PiSITE

PDB ID	1HLU	CHAIN	A
Protein name	BETA-ACTIN
Uniprot Accession	P60712
The number of similar proteins	208
The number of binding states	56
The number of binding partners	43

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	1HLU (CHAIN: A)
1	P02584
2	Monomeric state
3	P60712
4	P06396
5	Q6P5Q4
6	3MN7
7	Q93KQ6
8	P00639
9	P02774
10	P41832
11	Q9NG25
12	O00401
13	Q87GE5
14	Q46220
15	P40124
16	Q91YR1
17	A0A135VMT5
18	Q8K4J6
19	P06396
20	P41697
21	A0A0F8V8L2
22	Q8C0D4
23	O97428
24	A0A6N3LUE9
25	A0A135VHY8
26	A0A135VDL7
27	G5E8P7
28	G5E8P7
29	G5E8P7
30	P07737 Q93015
31	P10987 Q5NBX1
32	P10987 L0I5A1
33	P00639 26454860
34	P00639 O43516
35	P68135 P62328
36	Q91YR1 P40124
37	P68135 2V51
38	P68135 Q8K4J6
39	P06396 P00639
40	Q6ZPF4 Q6ZPF4
41	P00639 O75807
42	P07737 A0A6N3LUE9
43	P07737 P50552
44	P68135 7WHG
45	P68135 G5E8P7
46	P10987 L0I5A1 L0I5A1
47	P68135 P68135 Q9Y281
48	P68135 P68135 Q8K4J6
49	P10987 P10987 L0I5A1 L0I5A1
50	P68135 P68135 P68135 Q9Y281
51	P68135 P68135 P68135 3TPQ
52	P68135 Q923G3 Q5RKN9 Q12792
53	P68135 P68135 P68135 G5E8P7
54	P68135 P68135 G5E8P7 G5E8P7
55	P68135 P68135 P68135 P68135 Q9Y281 Q9Y281
56	P68135 P68135 P68135 P68135 G5E8P7 G5E8P7

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Molecule viewer

Only interaction residues

#binding
partners

	>9
	8
	7
	6
	5
	4
	3
	2
	1
	0

Sequence information

DDDIAALVVD

NGSGMCKAGF

AGDDAPRAVF

PSIVGRPRHQ

GVMVGMGQKD

SYVGDEAQSK

RGILTLKYPI

EXGIVTNWDD

MEKIWHHTFY

NELRVAPEEH

100

101

PVLLTEAPLN

PKANREKMTQ

IMFETFNTPA

MYVAIQAVLS

LYASGRTTGI

150

151

VMDSGDGVTH

TVPIYEGYAL

PHAILRLDLA

GRDLTDYLMK

ILTERGYSFT

200

201

TTAEREIVRD

IKEKLCYVAL

DFEQEMATAA

SSSSLEKSYE

LPDGQVITIG

250

251

NERFRCPEAL

FQPSFLGMES

CGIHETTFNS

IMKCDVDIRK

DLYANTVLSG

300

301

GTTMYPGIAD

RMQKEITALA

PSTMKIKIIA

PPERKYSVWI

GGSILASLST

350

351

FQQMWISKQE

YDESGPSIVH

RKCF

400

Variants

Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
2_ASP	TYR	ClinVar chr7:5569285 rs1784841309	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
2_ASP	ASN	8.3kJPN chr2:132021132 -	-	0.0001	-	-
3_ASP	VAL	8.3kJPN chr2:132021136 -	-	0.0001	-	-
4_GLU	LYS	ClinVar chr1:229568847 rs367543048	Pathogenic/Likely pathogenic	-	-	Congenital myopathy with fiber type disproportion\|Progressive scapulohumeroperoneal distal myopathy\|Actin accumulation myopathy [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020\|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
6_ALA	THR	gnomAD chr2:131221501 rs1332199716	-	0.000254065	-	-
6_ALA	THR	gnomAD chr2:131414338 rs201265731	-	0.102886	-	-
6_ALA	THR	8.3kJPN chr2:130832929 rs373944612	-	0.0001	-	-
6_ALA	THR	8.3kJPN chr2:131221501 rs1332199716	-	0.0001	-	-
6_ALA	THR	8.3kJPN chr2:131414338 rs201265731	-	0.2723	-	-
7_ALA	THR	ClinVar chr7:5569270 rs1562720119	Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|Intellectual disability [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
9_VAL	ILE	gnomAD chr2:131414347 rs369601422	-	0.000174562	-	-
10_CYS	TER	ClinVar chr1:229568827 rs1025502215	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
11_ASP	VAL	gnomAD chr2:131414354 rs199811130	-	0.00514982	-	-
11_ASP	GLU	8.3kJPN chr2:132021161 rs772893062	-	0.0008	-	-
12_ASN	ASP	ClinVar chr7:5569255 rs281875331	Pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:CN517202]
12_ASN	HIS	ClinVar chr7:5569255 rs281875331	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
13_GLY	SER	gnomAD chr2:131221480 rs1409478520	-	0.000158781	-	-
13_GLY	SER	8.3kJPN chr2:131414359 rs750203790	-	0.0001	-	-
13_GLY	VAL	8.3kJPN chr2:131414360 -	-	0.0001	-	-
14_SER	PRO	ClinVar chr10:90708642 rs1554841990	Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
15_GLY	ARG	ClinVar chr1:229568814 rs121909521	Pathogenic/Likely pathogenic	-	-	not provided\|Congenital myopathy 2c, severe infantile, autosomal dominant [MedGen:C3661900\|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
15_GLY	ARG	ClinVar chr17:79479338 rs1057518086	Likely pathogenic	-	-	not provided [MedGen:CN517202]
15_GLY	SER	ClinVar chr1:229568814 rs121909521	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
15_GLY	ASP	ClinVar chr1:229568813 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
15_GLY	ALA	8.3kJPN chr2:132021172 -	-	0.0001	-	-
17_CYS	ARG	ClinVar chr10:90708633 rs2133273980	Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
17_CYS	TYR	gnomAD chr2:132021178 rs572380570	-	0.00178255	-	-
17_CYS	TRP	8.3kJPN chr2:130832894 rs752127722	-	0.0007	-	-
17_CYS	TRP	8.3kJPN chr2:132021179 -	-	0.0004	-	-
18_LYS	ASN	ClinVar chr1:229568803 rs1659986226	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
20_GLY	SER	gnomAD chr2:131221459 rs763977846	-	0.000384848	-	-
20_GLY	SER	gnomAD chr2:131414380 rs62165277	-	0.00625704	-	-
20_GLY	SER	gnomAD chr2:132021186 rs576069372	-	0.000516335	-	-
20_GLY	SER	8.3kJPN chr2:131221459 rs763977846	-	0.0001	-	-
21_PHE	LEU	8.3kJPN chr2:130832882 -	-	0.0001	-	-
22_ALA	THR	ClinVar chr7:5569225 rs587780273	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
22_ALA	VAL	gnomAD chr2:130832880 rs550448684	-	0.000152825	-	-
22_ALA	VAL	gnomAD chr2:131221452 rs545218271	-	0.000222061	-	-
22_ALA	VAL	gnomAD chr2:131414387 rs770279792	-	0.000137744	-	-
22_ALA	VAL	8.3kJPN chr2:130832880 rs550448684	-	0.0035	-	-
22_ALA	VAL	8.3kJPN chr2:131414387 rs770279792	-	0.0011	-	-
22_ALA	THR	8.3kJPN chr2:132021192 -	-	0.0001	-	-
24_ASP	ASN	ClinVar chr7:5569219 rs2128241451	Likely pathogenic	-	-	ACTB-related BAFopathy [-]
24_ASP	ASN	gnomAD chr2:131414392 rs572289826	-	0.000151467	-	-
24_ASP	ASN	8.3kJPN chr2:131414392 rs572289826	-	0.0002	-	-
25_ASP	GLY	ClinVar chr1:229568783 rs1553255534	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
25_ASP	ASN	ClinVar chr7:5569216 rs1784839731	Likely pathogenic	-	-	not provided [MedGen:CN517202]
25_ASP	VAL	8.3kJPN chr2:130832871 -	-	0.0001	-	-
25_ASP	GLU	8.3kJPN chr5:56778457 -	-	0.0001	-	-
26_ALA	VAL	ClinVar chr17:79479304 rs371967814	Likely pathogenic	-	-	not provided [MedGen:C3661900]
26_ALA	VAL	gnomAD chr2:131221440 rs777332284	-	0.00012477	-	-
26_ALA	ASP	8.3kJPN chr2:131221440 rs777332284	-	0.0001	-	-
28_ARG	LYS	ClinVar chr1:229568774 -	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
28_ARG	TRP	gnomAD chr2:131414404 rs201522325	-	0.00779991	-	-
28_ARG	TRP	gnomAD chr2:132021210 rs545154090	-	0.000809239	-	-
28_ARG	GLN	8.3kJPN chr2:130832862 rs755975114	-	0.0001	-	-
28_ARG	TRP	8.3kJPN chr2:131414404 rs201522325	-	0.0002	-	-
28_ARG	GLN	8.3kJPN chr2:132021211 rs1443877295	-	0.0001	-	-
30_VAL	LEU	gnomAD chr2:131414410 rs199621042	-	0.00366486	-	-
32_PRO	SER	ClinVar chr17:79479287 rs1598551290	Pathogenic/Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|not provided\|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MedGen:C3661900\|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
32_PRO	ARG	ClinVar chr7:5569194 -	Likely pathogenic	-	-	ACTB-related condition [-]
32_PRO	ALA	8.3kJPN chr2:74128535 -	-	0.0001	-	-
35_VAL	LEU	ClinVar chr1:229568754 rs1553255521	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
35_VAL	LEU	ClinVar chr1:229568754 rs1553255521	Pathogenic	-	-	Actin accumulation myopathy\|not provided\|See cases [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MedGen:C3661900\|]
35_VAL	MET	8.3kJPN chr2:131414425 rs761434672	-	0.0001	-	-
36_GLY	ALA	ClinVar chr1:229568750 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
37_ARG	CYS	ClinVar chr10:90708573 rs112901682	Pathogenic/Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6\|Familial thoracic aortic aneurysm and aortic dissection\|not provided\|See cases [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MedGen:C3661900\|]
37_ARG	HIS	ClinVar chr10:90708572 rs794728021	Pathogenic/Likely pathogenic	-	-	not provided\|Aortic aneurysm, familial thoracic 6\|Familial aortopathy\|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900\|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MedGen:CN078214\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
37_ARG	GLY	ClinVar chr10:90708573 rs112901682	Pathogenic/Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6\|not provided\|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
37_ARG	HIS	ClinVar chr2:74128551 rs869312168	Pathogenic	-	-	Chronic intestinal pseudoobstruction [MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978]
37_ARG	SER	ClinVar chr10:90708573 rs112901682	Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
37_ARG	HIS	gnomAD chr2:131221407 rs573399018	-	0.000416926	-	-
37_ARG	CYS	gnomAD chr2:131221408 rs4588202	-	0.00104824	-	-
37_CYS	ARG	gnomAD chr2:131414431 rs71221348	-	0.0102863	-	-
37_ARG	SER	gnomAD chr5:56778423 rs78342986	-	0.00192919	-	-
37_ARG	CYS	8.3kJPN chr2:130832836 rs776009831	-	0.0001	-	-
37_ARG	HIS	8.3kJPN chr2:131221407 rs573399018	-	0.0002	-	-
37_CYS	ARG	8.3kJPN chr2:131414431 rs71221348	-	0.317	-	-
37_CYS	TYR	8.3kJPN chr2:131414432 rs1411955803	-	0.0002	-	-
37_ARG	CYS	8.3kJPN chr2:132021237 rs780573182	-	0.0002	-	-
37_ARG	HIS	8.3kJPN chr5:56778422 rs765705222	-	0.0001	-	-
38_PRO	LEU	ClinVar chr7:5569176 rs1554329646	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
38_PRO	LEU	ClinVar chr2:74128554 rs1573461481	Pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
38_PRO	ARG	ClinVar chr2:74128554 -	Likely pathogenic	-	-	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
38_PRO	SER	gnomAD chr2:131221405 rs200199864	-	0.000120323	-	-
38_PRO	ALA	gnomAD chr2:131221405 rs200199864	-	0.00224952	-	-
39_ARG	CYS	ClinVar chr2:74128556 rs587777385	Pathogenic/Likely pathogenic	-	-	Visceral myopathy 1\|not provided\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MedGen:C3661900\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
39_ARG	HIS	ClinVar chr2:74128557 rs587777386	Pathogenic/Likely pathogenic	-	-	Visceral myopathy 1\|Visceral neuropathy, familial, 3, autosomal dominant\|Chronic intestinal pseudoobstruction\|not provided\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MONDO:MONDO:0012317,MedGen:C1864996,OMIM:609629,Orphanet:2978\|MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978\|MedGen:C3661900\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]; Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
39_ARG	TER	ClinVar chr1:229568742 -	Pathogenic	-	-	Congenital myopathy 2b, severe infantile, autosomal recessive [MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265]
39_ARG	LEU	ClinVar chr1:229568741 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
40_HIS	TYR	ClinVar chr17:79479263 rs1057518673	Likely pathogenic	-	-	Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
40_HIS	TYR	ClinVar chr7:5569171 rs1373863123	Likely pathogenic	-	-	ACTB-related BAFopathy\|Baraitser-Winter syndrome 1 [\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
40_HIS	TYR	ClinVar chr1:229568739 rs2102736554	Pathogenic	-	-	Actin accumulation myopathy\|Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
40_GLN	HIS	gnomAD chr2:130832825 rs369584181	-	0.00452255	-	-
40_GLN	HIS	gnomAD chr2:131221397 rs539655972	-	0.00089631	-	-
40_GLN	HIS	8.3kJPN chr2:131221397 rs539655972	-	0.0054	-	-
40_GLN	HIS	8.3kJPN chr2:131414442 rs542301166	-	0.0014	-	-
40_HIS	GLN	8.3kJPN chr5:56778412 -	-	0.0001	-	-
41_GLN	ARG	ClinVar chr1:229568735 rs1659984269	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
41_GLN	GLU	8.3kJPN chr2:131414443 rs1394024885	-	0.0001	-	-
43_VAL	PHE	ClinVar chr1:229568624 rs398123562	Pathogenic/Likely pathogenic	-	-	Actin accumulation myopathy\|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MedGen:C3661900]
43_VAL	MET	ClinVar chr7:5569028 rs886041267	Pathogenic	-	-	not provided [MedGen:CN517202]
43_MET	THR	gnomAD chr2:131414450 rs749813601	-	0.000356104	-	-
43_VAL	ILE	gnomAD chr5:56778405 rs145144528	-	0.000609683	-	-
43_MET	ILE	8.3kJPN chr2:131414451 rs541398584	-	0.0001	-	-
44_MET	THR	ClinVar chr2:74129494 rs864309490	Pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
44_MET	ILE	ClinVar chr10:90707135 rs878854466	Pathogenic	-	-	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
44_MET	LYS	ClinVar chr17:79479161 rs886041280	Likely pathogenic	-	-	not provided [MedGen:CN517202]
44_MET	THR	ClinVar chr1:229568620 rs1057521120	Pathogenic/Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
44_MET	ARG	ClinVar chr10:90707136 rs1554841843	Likely pathogenic	-	-	not provided [MedGen:CN517202]
44_MET	ILE	ClinVar chr10:90707135 rs878854466	Pathogenic/Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6\|not provided [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MedGen:C3661900]
44_MET	ILE	gnomAD chr2:131221385 rs550645367	-	0.00126733	-	-
44_MET	ILE	8.3kJPN chr2:130832813 rs1160949599	-	0.0005	-	-
44_MET	VAL	8.3kJPN chr2:130832815 rs747907032	-	0.0008	-	-
44_MET	ILE	8.3kJPN chr2:131221385 rs550645367	-	0.0059	-	-
44_MET	ILE	8.3kJPN chr2:131414454 rs1173838414	-	0.0026	-	-
45_GLY	GLU	gnomAD chr2:131221383 rs535405991	-	0.000898709	-	-
45_GLY	ARG	gnomAD chr2:131414455 rs776457920	-	0.00022774	-	-
45_GLY	GLU	8.3kJPN chr2:131221383 rs535405991	-	0.0054	-	-
45_GLY	GLU	8.3kJPN chr2:131414456 rs747737493	-	0.0016	-	-
46_GLY	ASP	ClinVar chr1:229568614 rs367543049	Pathogenic	-	-	Congenital myopathy with fiber type disproportion\|Actin accumulation myopathy [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
46_GLY	SER	ClinVar chr1:229568615 rs794727488	Pathogenic/Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
46_GLY	VAL	ClinVar chr1:229568614 rs367543049	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
46_GLY	ARG	ClinVar chr1:229568615 rs794727488	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
46_GLY	ALA	ClinVar chr1:229568614 -	Likely pathogenic	-	-	Congenital myopathy with fiber type disproportion [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020]
46_GLY	ASP	gnomAD chr2:131221380 rs749435746	-	0.00135913	-	-
46_GLY	ASP	gnomAD chr2:132021265 rs775605868	-	0.000295371	-	-
46_GLY	SER	gnomAD chr5:56778396 rs561247849	-	0.000151426	-	-
47_MET	VAL	ClinVar chr10:90707128 rs397515325	Pathogenic	-	-	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
47_MET	THR	ClinVar chr10:90707127 rs869025352	Likely pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection\|Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
47_MET	ARG	ClinVar chr1:229568611 rs1553255506	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
47_MET	ILE	ClinVar chr7:5569014 rs2128241411	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
47_MET	VAL	ClinVar chr1:229568612 -	Pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
48_GLY	VAL	ClinVar chr1:229568608 rs1659980066	Likely pathogenic	-	-	not provided [MedGen:C3661900]
48_GLY	CYS	ClinVar chr7:5569013 rs2128241410	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
49_GLN	HIS	8.3kJPN chr2:132021275 -	-	0.0001	-	-
50_LYS	THR	ClinVar chr15:35085745 rs2140432240	Likely pathogenic	-	-	Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]; Atrial septal defect 5 [MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]
51_ASP	ASN	ClinVar chr17:79479141 -	Pathogenic/Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|Baraitser-winter syndrome 2 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
51_GLU	TER	8.3kJPN chr2:131414473 rs767259354	-	0.0002	-	-
52_CYS	SER	8.3kJPN chr5:56778378 -	-	0.0001	-	-
53_TYR	CYS	ClinVar chr7:5568997 rs2128241408	Likely pathogenic	-	-	not provided\|Baraitser-Winter syndrome 1 [MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
53_TYR	ASN	gnomAD chr2:132021285 rs200763665	-	0.000889051	-	-
53_TYR	TER	8.3kJPN chr2:74129522 -	-	0.0001	-	-
54_VAL	ILE	8.3kJPN chr15:35085734 rs944740404	-	0.0001	-	-
55_GLY	ARG	ClinVar chr1:229568588 rs2102736416	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
55_GLY	ALA	gnomAD chr2:131414486 rs753854975	-	0.000243161	-	-
55_GLY	GLU	8.3kJPN chr2:74129527 -	-	0.0001	-	-
56_ASP	ASN	ClinVar chr1:229568585 rs1085308014	Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
56_ASP	ASN	ClinVar chr7:5568989 rs1584263049	Likely pathogenic	-	-	not provided [MedGen:C3661900]
56_ASP	TYR	ClinVar chr7:5568989 rs1584263049	Likely pathogenic	-	-	Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926]
56_LYS	GLU	gnomAD chr2:132021294 rs375157128	-	0.00118207	-	-
58_ALA	VAL	ClinVar chr7:5568982 rs1784832575	Likely pathogenic	-	-	Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
59_GLN	TER	ClinVar chr1:229568576 rs2102736408	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
59_GLN	PRO	8.3kJPN chr2:132021304 -	-	0.0001	-	-
60_SER	ASN	ClinVar chr7:5568976 rs755437923	Likely pathogenic	-	-	Microcephaly [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563]; Abnormal brain morphology [Human Phenotype Ontology:HP:0012443,MedGen:C4021085]; Short stature [Human Phenotype Ontology:HP:0001509,Human Phenotype Ontology:HP:0003501,Human Phenotype Ontology:HP:0003507,Human Phenotype Ontology:HP:0003512,Human Phenotype Ontology:HP:0003518,Human Phenotype Ontology:HP:0003519,Human Phenotype Ontology:HP:0004322,Human Phenotype Ontology:HP:0008871,Human Phenotype Ontology:HP:0008882,Human Phenotype Ontology:HP:0008888,Human Phenotype Ontology:HP:0008913,MedGen:C0349588]
60_SER	ARG	ClinVar chr7:5568975 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
60_SER	GLY	8.3kJPN chr15:35085716 -	-	0.0001	-	-
62_ARG	GLY	ClinVar chr2:74129547 rs864309491	Pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
62_ARG	GLN	ClinVar chr2:74129548 rs1573462811	Pathogenic	-	-	Visceral myopathy 1\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
62_ARG	LEU	ClinVar chr2:74129548 -	Likely pathogenic	-	-	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
63_GLY	ALA	ClinVar chr17:79479104 -	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
64_ILE	ASN	ClinVar chr1:229568560 rs1553255502	Pathogenic/Likely pathogenic	-	-	Actin accumulation myopathy\|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MedGen:C3661900]
64_ILE	SER	ClinVar chr1:229568560 rs1553255502	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
65_LEU	VAL	ClinVar chr7:5568962 rs281875332	Pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:CN517202]
65_LEU	PHE	ClinVar chr7:5568962 rs281875332	Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|Intellectual disability\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756\|MedGen:C3661900]
66_THR	ASN	8.3kJPN chr2:131414519 -	-	0.0001	-	-
68_LYS	ARG	ClinVar chr1:229568548 rs1571893885	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
69_TYR	CYS	ClinVar chr17:79479086 rs781953399	Likely pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
70_PRO	LEU	ClinVar chr7:5568946 rs587779769	Pathogenic/Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:CN517202]
70_PRO	ARG	ClinVar chr1:229568542 rs1659978909	Pathogenic/Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
70_PRO	LEU	ClinVar chr17:79479083 rs2143783696	Pathogenic	-	-	Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
71_ILE	VAL	ClinVar chr1:229568540 rs1131691728	Pathogenic	-	-	not provided [MedGen:CN517202]
71_ILE	SER	ClinVar chr1:229568539 rs1553255501	Likely pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
71_ILE	THR	ClinVar chr10:90707055 -	Pathogenic	-	-	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
72_GLU	GLY	ClinVar chr7:5568940 rs1131691341	Likely pathogenic	-	-	not provided\|Baraitser-Winter syndrome 1 [MedGen:CN517202\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
73_HIS	ASP	ClinVar chr7:5568938 rs786205585	Likely pathogenic	-	-	not provided [MedGen:C3661900]
73_HIS	TYR	ClinVar chr7:5568938 rs786205585	Pathogenic/Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|Neurodevelopmental delay [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
73_HIS	GLN	ClinVar chr7:5568936 -	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
74_GLY	SER	ClinVar chr7:5568935 rs587779770	Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:C3661900]
74_GLY	ARG	ClinVar chr1:229568531 rs1246861211	Pathogenic	-	-	Non-immune hydrops fetalis [Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999]
74_GLY	CYS	ClinVar chr7:5568935 -	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
74_GLY	SER	gnomAD chr2:131221297 rs528144716	-	0.000250765	-	-
74_GLY	ARG	8.3kJPN chr5:56778312 -	-	0.0001	-	-
75_ILE	THR	ClinVar chr7:5568931 rs587779771	Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:CN517202]
76_ILE	ASN	gnomAD chr2:132021355 rs763149872	-	0.00042001	-	-
76_VAL	ALA	gnomAD chr5:56778305 rs148214432	-	0.00316009	-	-
77_THR	ILE	ClinVar chr1:229568521 rs1659978452	Pathogenic/Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
78_ASN	THR	ClinVar chr1:229568518 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
79_TRP	TER	ClinVar chr1:229568514 rs886039302	Likely pathogenic	-	-	not provided [MedGen:CN517202]
85_ILE	VAL	8.3kJPN chr15:35085641 -	-	0.0001	-	-
86_TRP	CYS	ClinVar chr7:5568897 rs1554329554	Likely pathogenic	-	-	not provided [MedGen:CN517202]
86_TRP	SER	8.3kJPN chr2:131221260 rs563841880	-	0.0054	-	-
86_TRP	SER	8.3kJPN chr2:131414579 -	-	0.0005	-	-
87_HIS	ASP	ClinVar chr7:5568896 rs1554329552	Pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
87_HIS	GLN	8.3kJPN chr2:130832684 rs746928594	-	0.0001	-	-
89_THR	ILE	ClinVar chr17:79479026 rs28999111	Pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
92_ASN	LYS	ClinVar chr1:229568475 rs772124885	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
92_ASN	TYR	ClinVar chr1:229568477 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
92_ASN	LYS	8.3kJPN chr2:130832669 rs538524883	-	0.0001	-	-
93_GLU	LYS	ClinVar chr17:79479015 rs1568062529	Likely pathogenic	-	-	not provided [MedGen:CN517202]
93_GLU	LYS	gnomAD chr2:130832668 rs201364219	-	0.000259142	-	-
93_GLU	LYS	8.3kJPN chr2:130832668 rs201364219	-	0.0059	-	-
94_LEU	PRO	ClinVar chr1:229568470 rs121909519	Pathogenic/Likely pathogenic	-	-	Actin accumulation myopathy\|Congenital myopathy 2b, severe infantile, autosomal recessive\|ACTA1-related myopathies [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265\|]
94_LEU	VAL	ClinVar chr1:229568471 rs2102736312	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
95_ARG	HIS	gnomAD chr2:131414606 rs566028178	-	0.000154716	-	-
95_ARG	LEU	gnomAD chr2:131414606 rs566028178	-	0.000101787	-	-
95_ARG	CYS	gnomAD chr2:132021411 rs376647430	-	0.000108282	-	-
95_ARG	CYS	8.3kJPN chr2:131221234 rs781391909	-	0.0001	-	-
95_ARG	HIS	8.3kJPN chr2:131414606 rs566028178	-	0.0002	-	-
95_ARG	CYS	8.3kJPN chr2:132021411 rs376647430	-	0.0001	-	-
97_ALA	SER	8.3kJPN chr2:131221228 rs563175525	-	0.0001	-	-
97_ALA	SER	8.3kJPN chr2:131414611 rs1007933915	-	0.0001	-	-
99_GLU	LYS	ClinVar chr15:35085599 rs193922680	Pathogenic/Likely pathogenic	-	-	Hypertrophic cardiomyopathy 11\|Left ventricular noncompaction 4\|Primary familial hypertrophic cardiomyopathy\|not provided\|Atrial septal defect 5 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098\|MONDO:MONDO:0800350,MedGen:C3150682\|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155\|MedGen:C3661900\|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11\|Cardiomyopathy\|Hypertrophic cardiomyopathy\|Dilated cardiomyopathy 1R\|Cardiovascular phenotype [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569\|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260\|MedGen:CN230736]
99_GLU	LYS	gnomAD chr2:131414617 rs569835408	-	0.000512725	-	-
99_ASP	GLU	gnomAD chr5:56778235 rs147178651	-	0.00348686	-	-
99_GLU	TER	8.3kJPN chr1:229568456 -	-	0.0001	-	-
100_GLU	LYS	gnomAD chr2:131221219 rs544614951	-	0.000347486	-	-
101_HIS	LEU	gnomAD chr2:131221215 rs201456236	-	0.00153437	-	-
101_HIS	ARG	8.3kJPN chr2:131221215 -	-	0.0001	-	-
102_PRO	HIS	gnomAD chr2:131221212 rs773580422	-	0.000347725	-	-
102_PRO	ARG	8.3kJPN chr2:131221212 -	-	0.0001	-	-
103_ILE	VAL	gnomAD chr5:56778225 rs147643155	-	0.00131479	-	-
103_VAL	ILE	8.3kJPN chr2:130832638 rs4608469	-	0.0006	-	-
103_ILE	VAL	8.3kJPN chr2:131414629 rs762041881	-	0.0001	-	-
104_LEU	PRO	ClinVar chr1:229568440 -	Likely pathogenic	-	-	Neuromuscular disease [MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381]
104_LEU	PRO	8.3kJPN chr2:131414633 rs1481441001	-	0.0001	-	-
107_GLU	ASP	ClinVar chr1:229568430 -	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
107_GLU	LYS	gnomAD chr2:132021447 rs377464122	-	0.000120303	-	-
107_GLU	LYS	gnomAD chr5:56778213 rs73757391	-	0.00637031	-	-
107_GLU	LYS	8.3kJPN chr2:131414641 rs752054462	-	0.0001	-	-
108_ALA	ASP	ClinVar chr7:5568832 rs1411316425	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
108_ALA	THR	gnomAD chr2:130832623 rs201946907	-	0.000206799	-	-
108_ALA	THR	8.3kJPN chr2:131414644 rs755328446	-	0.0002	-	-
109_PRO	SER	ClinVar chr7:5568830 rs1784829872	Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:CN517202]
109_THR	ILE	8.3kJPN chr2:130832619 rs758907582	-	0.0001	-	-
109_THR	PRO	8.3kJPN chr2:130832620 rs4494683	-	0.0002	-	-
110_LEU	PRO	gnomAD chr5:56778203 rs76155491	-	0.00129865	-	-
111_ASN	ASP	ClinVar chr7:5568824 rs2128241389	Likely pathogenic	-	-	Congenital smooth muscle hamartoma [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435]
111_ASN	SER	ClinVar chr1:229568419 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
111_ASN	ASP	8.3kJPN chr2:131414653 rs558817093	-	0.001	-	-
112_PRO	ALA	ClinVar chr2:74135881 rs1573468797	Likely pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
112_PRO	ARG	gnomAD chr2:132021463 rs200002532	-	0.00363556	-	-
112_PRO	ALA	8.3kJPN chr2:131221183 rs755787111	-	0.0016	-	-
113_LYS	ARG	ClinVar chr15:35085556 rs2140431879	Likely pathogenic	-	-	not provided [MedGen:C3661900]
114_ALA	VAL	ClinVar chr1:229568410 rs1659975747	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
114_ALA	THR	ClinVar chr1:229568411 rs1659975786	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
115_ASN	SER	ClinVar chr1:229568407 rs121909520	Pathogenic	-	-	Actin accumulation myopathy\|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MedGen:C3661900]
115_ASN	SER	ClinVar chr2:74135891 rs1057522054	Likely pathogenic	-	-	not provided [MedGen:CN517202]
115_ASN	LYS	ClinVar chr2:74135892 rs757905857	Likely pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
115_ASN	ILE	8.3kJPN chr2:131221173 rs765608208	-	0.0002	-	-
116_ARG	GLN	ClinVar chr10:90703570 rs112602953	Pathogenic/Likely pathogenic	-	-	not provided\|Aortic aneurysm, familial thoracic 6\|Familial thoracic aortic aneurysm and aortic dissection\|Aortic aneurysm, familial thoracic 6 [MedGen:C3661900\|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]; Multisystemic smooth muscle dysfunction syndrome [MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]; Moyamoya disease 5 [MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573]
116_ARG	HIS	gnomAD chr2:131221170 rs4369872	-	0.894368	-	-
116_ARG	HIS	gnomAD chr2:131414669 rs541111504	-	0.00274702	-	-
116_ARG	CYS	gnomAD chr2:132021474 rs777240667	-	0.000261074	-	-
116_ARG	HIS	8.3kJPN chr2:130832598 rs3948036	-	0.001	-	-
116_ARG	HIS	8.3kJPN chr2:131221170 rs4369872	-	0.9766	-	-
116_ARG	HIS	8.3kJPN chr2:131414669 rs541111504	-	0.1205	-	-
116_ARG	CYS	8.3kJPN chr2:132021474 rs777240667	-	0.0001	-	-
116_ARG	HIS	8.3kJPN chr2:132021475 rs11546936	-	0.0058	-	-
116_ARG	GLN	8.3kJPN chr5:56778185 rs780632687	-	0.0001	-	-
117_GLU	LYS	ClinVar chr7:5568806 rs397515470	Pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:C3661900]
117_GLU	ASP	ClinVar chr7:5568804 rs765265404	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
117_GLU	VAL	ClinVar chr7:5568805 rs1554329516	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
117_GLU	LYS	8.3kJPN chr2:131221168 rs760790422	-	0.0002	-	-
117_GLU	LYS	8.3kJPN chr2:131414671 rs773477590	-	0.0001	-	-
117_GLU	GLY	8.3kJPN chr2:131414672 -	-	0.0001	-	-
118_LYS	MET	ClinVar chr17:79478939 rs104894544	Pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|not provided\|Nonsyndromic genetic hearing loss [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MedGen:C3661900\|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884]
118_LYS	ASN	ClinVar chr17:79478938 rs267606630	Pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|not provided [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MedGen:CN517202]
118_LYS	ASN	ClinVar chr17:79478938 rs267606630	Pathogenic	-	-	not provided [MedGen:C3661900]
118_LYS	MET	ClinVar chr1:229568398 rs2102736219	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
119_MET	THR	ClinVar chr7:5568799 rs587779773	Pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:CN517202]
119_MET	LEU	gnomAD chr2:131414677 rs763146288	-	0.000100937	-	-
119_MET	ILE	8.3kJPN chr2:131414679 rs766525244	-	0.0001	-	-
120_THR	ILE	ClinVar chr17:79478933 rs281875325	Pathogenic/Likely pathogenic	-	-	Baraitser-winter syndrome 2\|not provided\|See cases [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|MedGen:CN517202\|]
120_THR	ILE	ClinVar chr7:5568796 rs587779774	Pathogenic	-	-	Baraitser-Winter syndrome 1\|Baraitser-Winter syndrome [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MONDO:MONDO:0017579,MedGen:C1853623,OMIM:PS243310,Orphanet:2995]
120_THR	PRO	ClinVar chr1:229568393 -	Likely pathogenic	-	-	Myopathy [Human Phenotype Ontology:HP:0003198,Human Phenotype Ontology:HP:0003569,Human Phenotype Ontology:HP:0003705,Human Phenotype Ontology:HP:0003742,Human Phenotype Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848]
122_ILE	THR	gnomAD chr2:131414687 rs760030744	-	0.000113968	-	-
123_MET	VAL	ClinVar chr15:35085527 rs121912677	Pathogenic	-	-	Atrial septal defect 5 [MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]
123_MET	THR	gnomAD chr2:131414690 rs767825200	-	0.00115681	-	-
123_MET	THR	8.3kJPN chr17:79478648 -	-	0.0001	-	-
124_PHE	LEU	8.3kJPN chr2:132021500 rs746151227	-	0.0001	-	-
128_ASN	ASP	8.3kJPN chr2:131221135 rs568363873	-	0.0017	-	-
128_ASN	ASP	8.3kJPN chr2:131414704 -	-	0.0002	-	-
128_ASN	SER	8.3kJPN chr2:132021511 rs1479966238	-	0.0001	-	-
129_THR	PRO	gnomAD chr2:131221132 rs780643718	-	0.000219714	-	-
132_MET	ILE	ClinVar chr1:229568355 rs1553255486	Likely pathogenic	-	-	Actin accumulation myopathy\|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MedGen:C3661900]
132_MET	ILE	ClinVar chr1:229568355 rs1553255486	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
132_MET	VAL	ClinVar chr1:229568357 rs1659974377	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
132_MET	THR	8.3kJPN chr2:74136213 rs762026736	-	0.0001	-	-
132_MET	ILE	8.3kJPN chr2:130832549 -	-	0.0001	-	-
132_MET	THR	8.3kJPN chr2:132021523 rs762400742	-	0.0001	-	-
133_TYR	ASN	ClinVar chr2:74136215 rs587777388	Pathogenic	-	-	Visceral myopathy 1\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
134_VAL	MET	gnomAD chr2:130832545 rs199777567	-	0.00248706	-	-
135_ALA	VAL	ClinVar chr17:79478612 rs11549190	Pathogenic/Likely pathogenic	-	-	Baraitser-winter syndrome 2\|not provided\|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|MedGen:C3661900\|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
136_ILE	MET	ClinVar chr1:229568343 rs121909526	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
136_ILE	ASN	ClinVar chr1:229568344 rs587780271	Likely pathogenic	-	-	Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]
137_GLN	HIS	ClinVar chr7:5568303 rs1388870915	Likely pathogenic	-	-	Congenital smooth muscle hamartoma [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435]
137_GLN	ARG	8.3kJPN chr5:56778122 -	-	0.0001	-	-
138_ALA	GLY	ClinVar chr1:229568338 rs1435160117	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
138_ALA	ASP	ClinVar chr1:229568338 rs1435160117	Pathogenic/Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
139_MET	VAL	gnomAD chr2:131221102 rs4531942	-	0.996794	-	-
139_MET	VAL	gnomAD chr2:131414737 rs773598134	-	0.00869711	-	-
139_VAL	MET	8.3kJPN chr2:130832530 rs2599795	-	0.0001	-	-
139_MET	VAL	8.3kJPN chr2:131221102 rs4531942	-	0.9932	-	-
139_MET	VAL	8.3kJPN chr2:131414737 rs773598134	-	0.2871	-	-
139_VAL	MET	8.3kJPN chr2:132021543 rs753827162	-	0.0002	-	-
140_LEU	PRO	ClinVar chr1:229568332 rs1553255482	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
140_PRO	LEU	8.3kJPN chr2:132021547 rs7425410	-	0.0956	-	-
142_LEU	PHE	ClinVar chr1:229568327 rs886039557	Pathogenic/Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
142_LEU	ARG	8.3kJPN chr2:132021553 -	-	0.0001	-	-
143_TYR	TER	ClinVar chr1:229568322 rs371410845	Pathogenic/Likely pathogenic	-	-	not provided\|Progressive scapulohumeroperoneal distal myopathy [MedGen:C3661900\|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]; Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]; Congenital myopathy with fiber type disproportion\|Actin accumulation myopathy [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
144_ALA	VAL	ClinVar chr17:79478585 -	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
144_ALA	THR	ClinVar chr7:5568284 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
144_THR	PRO	8.3kJPN chr2:130832515 -	-	0.0001	-	-
144_ALA	VAL	8.3kJPN chr5:56778101 -	-	0.0001	-	-
145_SER	PHE	ClinVar chr17:79478582 rs2143779274	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
145_SER	PHE	ClinVar chr1:229568317 -	Likely pathogenic	-	-	Neuromuscular disease [MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381]
145_SER	TYR	ClinVar chr1:229568317 -	Pathogenic/Likely pathogenic	-	-	Fetal akinesia deformation sequence\|Fetal akinesia [MONDO:MONDO:0008824,MedGen:CN263240,OMIM:PS208150\|]
146_GLY	ALA	ClinVar chr7:5568277 rs2128241303	Pathogenic/Likely pathogenic	-	-	Congenital smooth muscle hamartoma\|CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435\|]
146_GLY	SER	ClinVar chr7:5568278 rs2128241304	Pathogenic/Likely pathogenic	-	-	Congenital smooth muscle hamartoma\|CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435\|]
146_GLY	ARG	ClinVar chr2:74136254 rs2104815901	Likely pathogenic	-	-	Megacystis, microcolon, hypoperistalsis syndrome [MONDO:MONDO:0025986,MedGen:C1608393,OMIM:PS249210,Orphanet:2241]
146_GLY	VAL	ClinVar chr7:5568277 -	Pathogenic	-	-	CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [-]
146_GLY	ASP	ClinVar chr7:5568277 -	Pathogenic	-	-	CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [-]
146_GLY	VAL	ClinVar chr1:229568314 -	Likely pathogenic	-	-	Centronuclear myopathy\|Nemaline myopathy [MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595\|MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607]
147_ARG	CYS	ClinVar chr10:90701551 rs121434526	Pathogenic	-	-	Aortic aneurysm, familial thoracic 6\|Familial thoracic aortic aneurysm and aortic dissection\|not provided\|Aortic aneurysm, familial thoracic 2 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0011770,MedGen:C1846837,OMIM:607087]
147_ARG	SER	ClinVar chr2:74136257 rs587777383	Pathogenic	-	-	Visceral myopathy 1\|Chronic intestinal pseudoobstruction [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978]
147_ARG	LEU	ClinVar chr2:74136258 rs730880256	Pathogenic/Likely pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
147_ARG	LEU	ClinVar chr10:90701550 rs794728025	Pathogenic/Likely pathogenic	-	-	not provided\|Aortic aneurysm, familial thoracic 6 [MedGen:C3661900\|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
147_ARG	CYS	ClinVar chr17:79478577 rs2031775804	Likely pathogenic	-	-	Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
147_ARG	HIS	ClinVar chr17:79478576 rs2143779222	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
147_ARG	CYS	ClinVar chr2:74136257 rs587777383	Likely pathogenic	-	-	Intestinal obstruction [Human Phenotype Ontology:HP:0005214,Human Phenotype Ontology:HP:0005239,MONDO:MONDO:0004565,MedGen:C0021843]
147_ARG	CYS	ClinVar chr7:5568275 rs2128241302	Pathogenic	-	-	Baraitser-Winter syndrome 1\|BECKER NEVUS, SOMATIC, MOSAIC\|BECKER NEVUS SYNDROME, SOMATIC, MOSAIC\|CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|\|\|]
147_ARG	SER	ClinVar chr7:5568275 rs2128241302	Pathogenic/Likely pathogenic	-	-	Congenital smooth muscle hamartoma\|BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC\|CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC [MONDO:MONDO:0016986,MedGen:C0406819,Orphanet:263435\|\|]
147_ARG	HIS	gnomAD chr2:131221077 rs551881810	-	0.000482702	-	-
147_ARG	HIS	gnomAD chr2:131414762 rs200003563	-	0.000196114	-	-
147_ARG	HIS	gnomAD chr2:132021568 rs201044102	-	0.00191235	-	-
147_ARG	CYS	8.3kJPN chr2:130832506 rs755247969	-	0.0001	-	-
147_ARG	HIS	8.3kJPN chr2:131221077 rs551881810	-	0.0002	-	-
147_ARG	HIS	8.3kJPN chr2:131414762 rs200003563	-	0.0001	-	-
148_THR	SER	ClinVar chr1:229568308 rs1553255479	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
148_THR	SER	ClinVar chr1:229568309 -	Likely pathogenic	-	-	Progressive scapulohumeroperoneal distal myopathy [MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]
149_THR	ILE	ClinVar chr7:5568268 rs587779775	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
149_THR	SER	gnomAD chr2:131414767 rs542082063	-	0.00146001	-	-
149_THR	ALA	gnomAD chr2:132021573 rs202144960	-	0.000338967	-	-
152_VAL	LEU	ClinVar chr1:229568173 rs768144106	Likely pathogenic	-	-	Congenital muscular dystrophy with rigid spine\|Congenital myopathy 2b, severe infantile, autosomal recessive [MedGen:CN235626\|MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265]
152_VAL	ALA	ClinVar chr1:229568172 rs1553255446	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
152_VAL	LEU	ClinVar chr1:229568173 rs768144106	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
152_VAL	ILE	8.3kJPN chr2:74140617 rs762871917	-	0.0001	-	-
153_MET	VAL	ClinVar chr17:79478559 rs1555666789	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
153_MET	ILE	ClinVar chr17:79478557 rs2143779081	Likely pathogenic	-	-	Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
153_MET	LEU	8.3kJPN chr2:131414779 -	-	0.0001	-	-
154_ASP	ASN	gnomAD chr2:130832485 rs540232366	-	0.000164582	-	-
155_SER	PHE	ClinVar chr17:79478552 rs281875326	Pathogenic	-	-	Baraitser-winter syndrome 2\|not provided\|Congenital anomaly of kidney and urinary tract\|Inborn genetic diseases [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|MedGen:CN517202\|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545\|MeSH:D030342,MedGen:C0950123]
155_SER	CYS	8.3kJPN chr2:132021592 -	-	0.0001	-	-
158_GLY	SER	ClinVar chr1:229568155 rs1064794652	Pathogenic/Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
158_GLY	ARG	gnomAD chr2:131414794 rs771270515	-	0.000126748	-	-
159_VAL	ALA	ClinVar chr7:5568238 rs2128241291	Likely pathogenic	-	-	not provided [MedGen:C3661900]
160_THR	ILE	ClinVar chr7:5568235 rs1057518073	Likely pathogenic	-	-	not provided [MedGen:CN517202]
160_THR	ALA	ClinVar chr7:5568236 rs1784814961	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
161_HIS	GLN	ClinVar chr1:229568144 rs1571893383	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
162_THR	ALA	ClinVar chr7:5568230 rs2128241289	Pathogenic	-	-	not provided [MedGen:C3661900]
162_THR	ALA	8.3kJPN chr2:131221033 -	-	0.0001	-	-
162_THR	ALA	8.3kJPN chr2:131414806 rs1244046157	-	0.0001	-	-
163_VAL	LEU	ClinVar chr1:229568140 rs121909522	Pathogenic	-	-	Actin accumulation myopathy\|Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
163_VAL	MET	ClinVar chr1:229568140 rs121909522	Pathogenic	-	-	Actin accumulation myopathy\|not provided [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MedGen:C3661900]
163_VAL	LEU	ClinVar chr1:229568140 rs121909522	Pathogenic	-	-	Progressive scapulohumeroperoneal distal myopathy [MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]
164_PRO	HIS	ClinVar chr7:5568223 rs1784814819	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
164_PRO	THR	8.3kJPN chr2:132021618 -	-	0.0001	-	-
165_ILE	MET	ClinVar chr7:5568219 rs768401130	Likely pathogenic	-	-	not provided [MedGen:CN517202]
165_ILE	VAL	ClinVar chr17:79478523 rs2031770749	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
165_ILE	MET	gnomAD chr2:132021623 rs377356093	-	0.000120811	-	-
165_ILE	VAL	8.3kJPN chr2:131221024 -	-	0.0001	-	-
167_GLU	GLY	ClinVar chr1:229568127 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
167_GLU	ASP	gnomAD chr2:130832444 rs2599794	-	0.607599	-	-
167_ASP	GLU	gnomAD chr2:131221016 rs1356135791	-	0.000130766	-	-
167_GLU	ASP	gnomAD chr2:132021629 rs7424029	-	0.00301359	-	-
167_GLU	ASP	8.3kJPN chr2:130832444 rs2599794	-	-	-	-
167_GLU	TER	8.3kJPN chr2:130832446 -	-	0.0001	-	-
167_ASP	GLU	8.3kJPN chr2:131414823 rs1257604920	-	0.0004	-	-
167_GLU	ASP	8.3kJPN chr2:132021629 rs7424029	-	0.2288	-	-
168_GLY	ASP	ClinVar chr1:229568124 rs2102735950	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
170_ALA	GLU	ClinVar chr1:229568118 rs587780272	Pathogenic	-	-	Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]
170_ALA	VAL	gnomAD chr2:131221008 rs569318507	-	0.000400374	-	-
170_ALA	VAL	gnomAD chr5:56778023 rs763832753	-	0.000302878	-	-
170_ALA	SER	8.3kJPN chr2:131414830 -	-	0.0001	-	-
171_LEU	PHE	ClinVar chr7:5568203 -	Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|Thrombocytopenia 8, with dysmorphic features and developmental delay [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:CN372714,OMIM:620475]
172_PRO	LEU	ClinVar chr1:229568112 rs1057519311	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
173_HIS	ASN	gnomAD chr2:130832428 rs368978604	-	0.000161427	-	-
173_HIS	ARG	8.3kJPN chr5:56778014 rs771324969	-	0.0001	-	-
174_ALA	SER	gnomAD chr2:131414842 rs531039180	-	0.0014263	-	-
175_ILE	VAL	ClinVar chr1:229568104 rs1558081804	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
176_LEU	PRO	ClinVar chr7:5568187 rs1554329331	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
177_ARG	HIS	ClinVar chr10:90701066 rs387906592	Pathogenic	-	-	Multisystemic smooth muscle dysfunction syndrome\|Moyamoya disease 5\|Aortic aneurysm, familial thoracic 6\|Familial thoracic aortic aneurysm and aortic dissection\|not provided\|alterations of great arteries and veins [MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463\|MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573\|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MedGen:C3661900\|MedGen:CN239849]; Connective tissue disorder\|Multisystemic smooth muscle dysfunction syndrome [MONDO:MONDO:0003900,MedGen:C0009782\|MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]; Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]; Moyamoya disease 5 [MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573]
177_ARG	LEU	ClinVar chr2:74140693 rs587777384	Pathogenic	-	-	Visceral myopathy 1\|Inborn genetic diseases\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5\|not provided [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431\|MedGen:CN517202]
177_ARG	CYS	ClinVar chr2:74140692 rs78001248	Pathogenic	-	-	Visceral myopathy 1\|not provided\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MedGen:C3661900\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
177_ARG	HIS	ClinVar chr2:74140693 rs587777384	Pathogenic	-	-	Visceral myopathy 1\|Inborn genetic diseases\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5\|not provided [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431\|MedGen:CN517202]
177_ARG	LEU	ClinVar chr1:229568097 rs727503797	Likely pathogenic	-	-	not provided [MedGen:CN517202]
177_ARG	CYS	ClinVar chr10:90701067 rs886039303	Pathogenic	-	-	not provided\|Familial aortopathy\|Aortic aneurysm, familial thoracic 6\|Multisystemic smooth muscle dysfunction syndrome [MedGen:C3661900\|MedGen:CN078214\|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]
177_ARG	SER	ClinVar chr10:90701067 rs886039303	Pathogenic	-	-	Multisystemic smooth muscle dysfunction syndrome [MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]
177_ARG	LEU	ClinVar chr10:90701066 rs387906592	Pathogenic	-	-	Multisystemic smooth muscle dysfunction syndrome [MONDO:MONDO:0013452,MedGen:C3151201,OMIM:613834,Orphanet:404463]
177_ARG	HIS	ClinVar chr1:229568097 -	Likely pathogenic	-	-	ACTA1-related condition [-]
177_ARG	SER	ClinVar chr2:74140692 -	Pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
177_ARG	HIS	gnomAD chr2:131220987 rs529516175	-	0.000631192	-	-
177_ARG	CYS	gnomAD chr2:131220988 rs551179676	-	0.000246305	-	-
177_ARG	CYS	gnomAD chr2:131414851 rs546363432	-	0.000704257	-	-
177_ARG	HIS	gnomAD chr2:131414852 rs759119194	-	0.000160075	-	-
177_ARG	HIS	8.3kJPN chr2:131220987 rs529516175	-	0.0004	-	-
177_ARG	CYS	8.3kJPN chr2:131220988 rs551179676	-	0.0001	-	-
177_ARG	CYS	8.3kJPN chr2:131414851 rs546363432	-	0.0002	-	-
177_ARG	HIS	8.3kJPN chr2:131414852 rs759119194	-	0.0004	-	-
177_ARG	CYS	8.3kJPN chr2:132021657 rs754774291	-	0.0001	-	-
177_ARG	HIS	8.3kJPN chr2:132021658 rs767885982	-	0.0001	-	-
179_ASP	HIS	ClinVar chr1:229568092 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
179_ASP	HIS	8.3kJPN chr2:131220982 -	-	0.0001	-	-
179_ASP	HIS	8.3kJPN chr2:131414857 rs766870292	-	0.0001	-	-
179_ASP	GLU	8.3kJPN chr5:56777995 -	-	0.0001	-	-
182_GLY	ASP	ClinVar chr1:229568082 -	Pathogenic	-	-	not provided [MedGen:CN517202]
183_ARG	TRP	ClinVar chr7:5568167 rs104894003	Pathogenic	-	-	Developmental malformations-deafness-dystonia syndrome\|Baraitser-Winter syndrome 1\|Inborn genetic diseases\|not provided\|ACTB-related BAFopathy [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|]
183_ARG	TRP	ClinVar chr15:35084672 rs397517065	Likely pathogenic	-	-	Primary dilated cardiomyopathy\|Inborn genetic diseases [EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604\|MeSH:D030342,MedGen:C0950123]
183_ARG	SER	ClinVar chr1:229568080 rs1064794287	Pathogenic/Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
183_ARG	CYS	ClinVar chr1:229568080 rs1064794287	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
183_ARG	TRP	ClinVar chr17:79478469 rs1362994447	Likely pathogenic	-	-	not provided\|Autosomal dominant nonsyndromic hearing loss 20 [MedGen:C3661900\|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
183_ARG	GLY	ClinVar chr7:5568167 rs104894003	Likely pathogenic	-	-	ACTB-related disorders [-]
183_ARG	TRP	gnomAD chr2:132021675 rs757786218	-	0.000136692	-	-
184_ASP	GLY	ClinVar chr1:229568076 rs1571893319	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
184_ASP	ASN	ClinVar chr1:229568077 rs2102735904	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
184_ASP	HIS	ClinVar chr1:229568077 -	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
184_ASP	ASN	8.3kJPN chr5:56777982 rs527573101	-	0.0002	-	-
185_LEU	PRO	8.3kJPN chr2:132021682 -	-	0.0001	-	-
186_PRO	THR	gnomAD chr2:130832389 rs199761904	-	0.0401203	-	-
186_THR	PRO	gnomAD chr2:131414878 rs201354416	-	0.0798432	-	-
186_PRO	THR	gnomAD chr2:132021684 rs2672150	-	0.00331467	-	-
186_PRO	THR	8.3kJPN chr2:130832389 rs199761904	-	0.0043	-	-
186_THR	PRO	8.3kJPN chr2:131220961 rs62163561	-	0.0018	-	-
186_THR	PRO	8.3kJPN chr2:131414878 rs201354416	-	0.2745	-	-
186_PRO	THR	8.3kJPN chr2:132021684 rs2672150	-	0.0005	-	-
187_ASP	GLU	gnomAD chr2:130832384 rs201255735	-	0.00737818	-	-
187_ASP	ASN	gnomAD chr2:131220958 rs746554335	-	0.000481472	-	-
189_LEU	PHE	gnomAD chr2:132021693 rs569980375	-	0.000164445	-	-
190_MET	VAL	gnomAD chr2:132021696 rs374662832	-	0.000569636	-	-
190_MET	ARG	8.3kJPN chr5:56777963 -	-	0.0002	-	-
192_ILE	ASN	ClinVar chr15:35084644 -	Likely pathogenic	-	-	Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Atrial septal defect 5 [MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]
192_ILE	VAL	gnomAD chr2:132021702 rs202129718	-	0.00797614	-	-
192_ILE	VAL	8.3kJPN chr2:130832371 rs760765828	-	0.0001	-	-
192_ILE	PHE	8.3kJPN chr2:131414896 rs547084134	-	0.0001	-	-
194_THR	PRO	ClinVar chr1:229568047 -	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
194_THR	ILE	gnomAD chr2:130832364 rs185469611	-	0.0110298	-	-
195_GLU	ASP	ClinVar chr1:229568042 rs869312739	Pathogenic	-	-	Progressive scapulohumeroperoneal distal myopathy\|not provided\|Actin accumulation myopathy [MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977\|MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
195_GLU	ASP	ClinVar chr2:74140748 rs140943831	Likely pathogenic	-	-	not provided [MedGen:CN517202]
195_GLU	LYS	ClinVar chr7:5568131 rs1784813193	Likely pathogenic	-	-	not provided [MedGen:C3661900]
195_GLU	ASP	ClinVar chr2:74140748 rs140943831	Likely pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
195_GLU	LYS	gnomAD chr2:131414905 rs530033416	-	0.000181449	-	-
196_ARG	HIS	ClinVar chr7:5568127 rs281875334	Pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:C3661900]
196_ARG	CYS	ClinVar chr7:5568128 rs281875333	Pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:C3661900]
196_ARG	SER	ClinVar chr7:5568128 rs281875333	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
196_ARG	HIS	ClinVar chr10:90701009 rs746972765	Pathogenic/Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6\|Familial thoracic aortic aneurysm and aortic dissection\|not provided [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MedGen:C3661900]
196_ARG	HIS	ClinVar chr1:229568040 -	Pathogenic	-	-	Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
196_ARG	CYS	ClinVar chr1:229568041 rs1659962016	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
196_ARG	LEU	ClinVar chr7:5568127 rs281875334	Likely pathogenic	-	-	ACTB-related BAFopathy\|Aminoacylase 1 deficiency [\|MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754]
196_ARG	GLY	ClinVar chr7:5568128 rs281875333	Pathogenic	-	-	not provided [MedGen:C3661900]
196_ARG	THR	ClinVar chr2:74140750 rs2104821169	Likely pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
196_HIS	ARG	gnomAD chr2:130832358 rs2599793	-	0.392138	-	-
196_ARG	HIS	gnomAD chr2:131414909 rs548530110	-	0.000371448	-	-
196_ARG	GLN	gnomAD chr5:56777945 rs149395843	-	0.000712983	-	-
196_HIS	ARG	8.3kJPN chr2:130832358 rs2599793	-	0.5573	-	-
196_ARG	HIS	8.3kJPN chr2:131414909 rs548530110	-	0.0002	-	-
196_ARG	HIS	8.3kJPN chr2:132021715 rs780394961	-	0.001	-	-
197_GLY	ASP	ClinVar chr2:74140753 rs864309492	Pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
197_GLY	SER	ClinVar chr7:5568125 rs1554329317	Pathogenic/Likely pathogenic	-	-	Inborn genetic diseases\|Baraitser-Winter syndrome 1\|not provided [MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:C3661900]
197_GLY	VAL	ClinVar chr2:74140753 -	Likely pathogenic	-	-	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
197_GLY	ASP	8.3kJPN chr2:131220927 rs1349939724	-	0.0002	-	-
197_GLY	ALA	8.3kJPN chr2:132021718 -	-	0.0001	-	-
198_TYR	ASN	ClinVar chr1:229568035 rs1553255432	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
198_TYR	CYS	ClinVar chr1:229568034 rs2102735854	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
199_SER	ARG	ClinVar chr7:5568117 rs886041266	Likely pathogenic	-	-	not provided [MedGen:CN517202]
200_PHE	ILE	ClinVar chr17:79478418 rs587780275	Likely pathogenic	-	-	Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
200_PHE	VAL	ClinVar chr7:5568116 rs2128241275	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]; Developmental malformations-deafness-dystonia syndrome [MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371,Orphanet:79107]
201_THR	ILE	ClinVar chr7:5568112 -	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
201_VAL	ILE	8.3kJPN chr10:90700995 rs397516684	-	0.0001	-	-
202_THR	ILE	ClinVar chr1:229568022 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
202_THR	PRO	8.3kJPN chr2:131414926 -	-	0.0001	-	-
203_THR	LYS	ClinVar chr17:79478408 rs281875327	Pathogenic	-	-	Baraitser-winter syndrome 2\|not provided [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|MedGen:CN517202]
203_THR	MET	ClinVar chr17:79478408 rs281875327	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|Baraitser-Winter syndrome [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MONDO:MONDO:0017579,MedGen:C1853623,OMIM:PS243310,Orphanet:2995]
203_MET	VAL	8.3kJPN chr2:131414929 rs569948094	-	0.0002	-	-
204_ALA	GLY	ClinVar chr7:5568103 rs587779776	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
204_ALA	THR	ClinVar chr2:74140773 rs1057516046	Pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
204_ALA	THR	ClinVar chr1:229568017 rs1057521119	Pathogenic/Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
204_ALA	GLY	ClinVar chr17:79478405 rs11549225	Likely pathogenic	-	-	not provided\|Baraitser-winter syndrome 2 [MedGen:CN517202\|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
204_ALA	VAL	ClinVar chr1:229567932 rs1571893145	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
205_GLU	VAL	ClinVar chr1:229567929 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
205_GLU	LYS	gnomAD chr2:132021741 rs200315167	-	0.00632675	-	-
206_ARG	GLN	ClinVar chr7:5568097 rs886039472	Pathogenic/Likely pathogenic	-	-	not provided\|Baraitser-Winter syndrome 1\|Inborn genetic diseases\|See cases [MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MeSH:D030342,MedGen:C0950123\|]
206_ARG	GLY	ClinVar chr7:5568098 rs1057518071	Likely pathogenic	-	-	not provided [MedGen:CN517202]
206_ARG	GLN	ClinVar chr17:79478399 rs1555666715	Likely pathogenic	-	-	Rare genetic deafness\|Baraitser-winter syndrome 2\|Baraitser-winter syndrome 2 [MedGen:C5680250,Orphanet:96210\|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
206_ARG	TRP	ClinVar chr7:5568098 rs1057518071	Pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:C3661900]
206_ARG	GLN	gnomAD chr2:130832328 rs759625747	-	0.000199511	-	-
206_ARG	GLN	gnomAD chr2:131220900 rs564547553	-	0.000500679	-	-
206_ARG	TRP	gnomAD chr2:131220901 rs1419461472	-	0.000142248	-	-
206_ARG	TRP	gnomAD chr2:132021744 rs577200385	-	0.000100946	-	-
206_ARG	GLN	gnomAD chr5:56777915 rs146468598	-	0.00203529	-	-
206_ARG	TRP	gnomAD chr5:56777916 rs139155991	-	0.000716943	-	-
206_ARG	GLN	8.3kJPN chr2:131220900 rs564547553	-	0.0003	-	-
206_ARG	TRP	8.3kJPN chr2:131220901 rs1419461472	-	0.0002	-	-
206_ARG	TRP	8.3kJPN chr2:132021744 rs577200385	-	0.0009	-	-
206_ARG	HIS	8.3kJPN chr15:35084476 rs142839840	-	0.0001	-	-
207_GLU	LYS	gnomAD chr2:132021747 rs369294973	-	0.000237995	-	-
207_GLU	GLY	8.3kJPN chr5:56777912 rs137915627	-	0.0007	-	-
209_VAL	MET	ClinVar chr7:5568089 rs587779777	Pathogenic/Likely pathogenic	-	-	Baraitser-Winter syndrome 1\|not provided\|ACTB-related BAFopathy\|Inborn genetic diseases [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995\|MedGen:C3661900\|\|MeSH:D030342,MedGen:C0950123]
209_VAL	LEU	ClinVar chr7:5568089 rs587779777	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
209_VAL	MET	gnomAD chr2:131414947 rs202097988	-	0.0011313	-	-
209_VAL	MET	8.3kJPN chr2:131414947 rs202097988	-	0.0002	-	-
210_ARG	GLN	ClinVar chr10:90699437 rs397516685	Pathogenic/Likely pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection\|not provided\|Aortic aneurysm, familial thoracic 6\|ACTA2-Related Disorders\|Isolated thoracic aortic aneurysm [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|\|]
210_ARG	HIS	ClinVar chr7:5568085 rs1064793444	Pathogenic/Likely pathogenic	-	-	not provided\|ACTB-related BAFopathy\|Baraitser-Winter syndrome 1 [MedGen:CN517202\|\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
210_ARG	CYS	ClinVar chr7:5568086 rs1584261979	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
210_ARG	CYS	ClinVar chr17:79478388 rs2031759596	Pathogenic	-	-	Microcephaly\|Baraitser-winter syndrome 2 [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563\|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
210_ARG	LEU	ClinVar chr2:74141825 -	Pathogenic	-	-	Visceral myopathy 1 [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]
210_ARG	CYS	gnomAD chr2:130832317 rs748161177	-	0.000137662	-	-
210_ARG	HIS	gnomAD chr2:131220888 rs756572758	-	0.000226689	-	-
210_ARG	HIS	gnomAD chr2:131414951 rs200010374	-	0.00607696	-	-
210_ARG	HIS	8.3kJPN chr2:130832316 rs550374458	-	0.0002	-	-
210_ARG	HIS	8.3kJPN chr2:131220888 rs756572758	-	0.0002	-	-
210_ARG	HIS	8.3kJPN chr2:131414951 rs200010374	-	0.0002	-	-
211_ASP	TYR	8.3kJPN chr2:131414953 -	-	0.0001	-	-
213_LYS	GLN	ClinVar chr17:79478379 rs1057524703	Likely pathogenic	-	-	not provided [MedGen:CN517202]
214_GLU	ASP	ClinVar chr10:90699424 -	Pathogenic	-	-	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
214_GLU	LYS	ClinVar chr1:229567903 -	Likely pathogenic	-	-	not provided [MedGen:C3661900]
214_GLU	LYS	gnomAD chr2:131414962 rs745596739	-	0.000131873	-	-
214_GLU	GLN	gnomAD chr5:56777892 rs534551351	-	0.000549639	-	-
217_CYS	ARG	ClinVar chr10:90699417 -	Pathogenic	-	-	Aortic aneurysm, familial thoracic 6 [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788]
217_CYS	TYR	8.3kJPN chr2:132021778 rs768302084	-	0.0001	-	-
218_TYR	TER	ClinVar chr1:229567889 rs201823652	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
218_TYR	PHE	gnomAD chr2:131220864 rs77172375	-	0.380035	-	-
218_TYR	PHE	gnomAD chr2:131414975 rs4850168	-	0.000716492	-	-
218_TYR	PHE	gnomAD chr2:132021781 rs553548999	-	0.000176646	-	-
218_TYR	PHE	8.3kJPN chr2:130832292 rs62165871	-	0.4225	-	-
218_TYR	PHE	8.3kJPN chr2:131220864 rs77172375	-	0.9769	-	-
218_TYR	PHE	8.3kJPN chr2:131414975 rs4850168	-	0.2864	-	-
218_TYR	PHE	8.3kJPN chr2:132021781 rs553548999	-	0.0005	-	-
219_VAL	ILE	gnomAD chr2:131220862 rs781598956	-	0.00121139	-	-
220_ALA	THR	gnomAD chr2:130832287 rs753144687	-	0.000255042	-	-
220_ALA	THR	8.3kJPN chr2:130832287 rs753144687	-	0.0001	-	-
222_ASP	HIS	gnomAD chr2:130832281 rs368461233	-	0.000440956	-	-
222_ASP	HIS	gnomAD chr2:131220853 rs1319703615	-	0.000266525	-	-
222_ASP	ALA	8.3kJPN chr2:131414987 -	-	0.0001	-	-
224_GLU	GLN	ClinVar chr1:229567873 rs1057521118	Pathogenic/Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
225_GLN	GLU	8.3kJPN chr2:130832272 -	-	0.0005	-	-
226_GLU	GLN	ClinVar chr1:229567867 rs1558081664	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
226_GLU	TER	ClinVar chr1:229567867 rs1558081664	Pathogenic	-	-	Congenital myopathy with fiber type disproportion\|Actin accumulation myopathy [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
226_GLU	GLN	8.3kJPN chr2:131220841 -	-	0.0001	-	-
226_GLU	VAL	8.3kJPN chr2:131414999 -	-	0.0001	-	-
227_MET	LEU	ClinVar chr1:229567864 rs794727714	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
227_MET	THR	ClinVar chr1:229567863 -	Pathogenic	-	-	ACTA1-related condition [-]
229_MET	ILE	gnomAD chr2:131220830 rs574350751	-	0.005	-	-
229_MET	ILE	gnomAD chr2:131220830 rs574350751	-	0.00133333	-	-
229_MET	THR	gnomAD chr2:131220831 rs2599792	-	0.0180965	-	-
229_MET	THR	gnomAD chr2:131415008 rs62165279	-	0.000217035	-	-
229_THR	MET	8.3kJPN chr2:130832259 rs1313492550	-	0.0001	-	-
229_MET	ILE	8.3kJPN chr2:131220830 rs574350751	-	0.0022	-	-
229_MET	THR	8.3kJPN chr2:131220831 rs2599792	-	0.9739	-	-
229_MET	LEU	8.3kJPN chr2:131220832 -	-	0.0002	-	-
229_MET	VAL	8.3kJPN chr2:131415007 rs766613702	-	0.0001	-	-
229_MET	THR	8.3kJPN chr2:131415008 rs62165279	-	0.1846	-	-
229_THR	MET	8.3kJPN chr2:132021814 rs1335497622	-	0.0041	-	-
230_VAL	ALA	gnomAD chr2:130832256 rs376938834	-	0.116389	-	-
230_ALA	VAL	gnomAD chr2:131220828 rs4850169	-	0.00399734	-	-
230_ALA	THR	gnomAD chr2:131220829 rs552890000	-	0.005	-	-
230_ALA	THR	gnomAD chr2:132021816 rs576267419	-	0.0014342	-	-
230_VAL	ALA	8.3kJPN chr2:130832256 rs376938834	-	0.4886	-	-
230_ALA	VAL	8.3kJPN chr2:131220828 rs4850169	-	0.9623	-	-
230_ALA	VAL	8.3kJPN chr2:132021817 rs1352115051	-	0.0007	-	-
233_SER	TYR	ClinVar chr1:229567845 rs2102735630	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
233_SER	THR	8.3kJPN chr2:130832247 rs1290431395	-	0.0001	-	-
233_SER	THR	8.3kJPN chr2:132021826 rs758028412	-	0.0001	-	-
236_LEU	VAL	8.3kJPN chr2:131415028 rs1193997837	-	0.0001	-	-
237_GLU	GLN	ClinVar chr15:35084384 rs1555418785	Likely pathogenic	-	-	not provided [MedGen:CN517202]
238_LYS	ARG	gnomAD chr2:130832232 rs200428206	-	0.00056809	-	-
238_LYS	ARG	gnomAD chr2:131220804 rs570148649	-	0.000626566	-	-
239_SER	ARG	ClinVar chr1:229567826 -	Likely pathogenic	-	-	Neuromuscular disease [MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381]
241_GLU	LYS	ClinVar chr17:79478295 rs267606631	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|not provided\|Rare genetic deafness\|Hearing impairment [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MedGen:C3661900\|MedGen:C5680250,Orphanet:96210\|Human Phenotype Ontology:HP:0000365,Human Phenotype Ontology:HP:0000404,Human Phenotype Ontology:HP:0001728,Human Phenotype Ontology:HP:0001729,Human Phenotype Ontology:HP:0001754,Human Phenotype Ontology:HP:0008560,Human Phenotype Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666]
241_GLU	ASP	8.3kJPN chr2:132021851 rs761160312	-	0.0001	-	-
243_PRO	LEU	ClinVar chr17:79478288 rs1598548256	Likely pathogenic	-	-	Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
244_ASP	ASN	8.3kJPN chr2:131220787 rs760161629	-	0.0001	-	-
244_ASP	ASN	8.3kJPN chr2:131415052 rs765064482	-	0.0001	-	-
245_GLY	ARG	ClinVar chr1:229567810 rs1057521117	Pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]; ACTA1 gene related myopathy\|Actin accumulation myopathy [\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
245_GLY	ASP	ClinVar chr15:35084359 rs1566967399	Pathogenic/Likely pathogenic	-	-	Cardiomyopathy\|Atrial septal defect 5 [Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848\|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11\|Cardiovascular phenotype [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098\|MedGen:CN230736]
245_GLY	ARG	ClinVar chr1:229567810 rs1057521117	Pathogenic	-	-	Fetal akinesia deformation sequence 1 [Human Phenotype Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994]; Arthrogryposis multiplex congenita\|Actin accumulation myopathy [Human Phenotype Ontology:HP:0001389,Human Phenotype Ontology:HP:0001390,Human Phenotype Ontology:HP:0002759,Human Phenotype Ontology:HP:0002804,Human Phenotype Ontology:HP:0005188,Human Phenotype Ontology:HP:0005663,Human Phenotype Ontology:HP:0005809,Human Phenotype Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
247_VAL	ILE	8.3kJPN chr1:229567804 rs149762697	-	0.0002	-	-
248_ILE	LEU	8.3kJPN chr2:130832203 -	-	0.0001	-	-
248_ILE	LEU	8.3kJPN chr2:131220775 -	-	0.0002	-	-
248_ILE	LEU	8.3kJPN chr2:131415064 -	-	0.0001	-	-
251_GLY	ASP	ClinVar chr1:229567791 -	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
251_GLY	SER	8.3kJPN chr2:130832194 rs781580394	-	0.0001	-	-
251_SER	GLY	8.3kJPN chr2:131415073 rs756689031	-	0.0163	-	-
252_ASN	LYS	ClinVar chr1:229567787 rs1571892988	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
253_GLU	GLY	gnomAD chr2:131220759 rs758587801	-	0.000187131	-	-
253_GLU	LYS	8.3kJPN chr2:130832188 rs752060293	-	0.0002	-	-
253_GLU	LYS	8.3kJPN chr2:131415079 rs564658802	-	0.0001	-	-
253_GLU	LYS	8.3kJPN chr2:132021885 rs775910106	-	0.0003	-	-
254_ARG	TRP	ClinVar chr17:79478256 rs281875328	Pathogenic/Likely pathogenic	-	-	Baraitser-winter syndrome 2\|not provided\|Lissencephaly\|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471\|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2\|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
254_ARG	CYS	ClinVar chr1:229567783 rs1558081624	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
254_ARG	HIS	ClinVar chr1:229567782 rs1659954003	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
254_ARG	SER	ClinVar chr10:90699306 rs886038852	Likely pathogenic	-	-	not provided [MedGen:C3661900]
254_ARG	GLY	ClinVar chr1:229567783 -	Likely pathogenic	-	-	Congenital myopathy\|Primary dilated cardiomyopathy [MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245\|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604]
254_ARG	TRP	gnomAD chr2:130832185 rs62165870	-	0.0986423	-	-
254_ARG	GLY	gnomAD chr2:130832185 rs62165870	-	0.000158334	-	-
254_TRP	CYS	gnomAD chr2:131220755 rs750648677	-	0.000234632	-	-
254_TRP	ARG	gnomAD chr2:131220757 rs1180587103	-	0.00157757	-	-
254_TRP	ARG	gnomAD chr2:131415082 rs200286757	-	0.00423049	-	-
254_ARG	TRP	gnomAD chr2:132021888 rs761248193	-	0.000646933	-	-
254_ARG	GLN	gnomAD chr2:132021889 rs375656111	-	0.00318996	-	-
254_ARG	CYS	gnomAD chr5:56777772 rs183478178	-	0.000171357	-	-
254_ARG	TRP	8.3kJPN chr2:130832185 rs62165870	-	0.4196	-	-
254_TRP	CYS	8.3kJPN chr2:131220755 -	-	0.0001	-	-
254_TRP	ARG	8.3kJPN chr2:131220757 rs1180587103	-	0.0039	-	-
254_TRP	ARG	8.3kJPN chr2:131415082 rs200286757	-	0.0001	-	-
254_ARG	TRP	8.3kJPN chr2:132021888 rs761248193	-	0.0029	-	-
254_ARG	CYS	8.3kJPN chr5:56777772 rs183478178	-	0.0002	-	-
256_ARG	HIS	ClinVar chr10:90699299 rs121434527	Pathogenic/Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6\|Moyamoya disease 5\|not provided\|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
256_ARG	CYS	ClinVar chr10:90699300 rs121434528	Pathogenic	-	-	Aortic aneurysm, familial thoracic 6\|Moyamoya disease 5\|not provided\|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0013542,MedGen:C3279690,OMIM:614042,Orphanet:2573\|MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
256_ARG	TRP	ClinVar chr17:79478250 rs281875329	Pathogenic	-	-	Baraitser-winter syndrome 2\|not provided\|Autosomal dominant nonsyndromic hearing loss 20\|Lissencephaly [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|MedGen:CN517202\|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432,Orphanet:48471]
256_ARG	CYS	ClinVar chr2:74141962 rs587777387	Pathogenic	-	-	Visceral myopathy 1\|Chronic intestinal pseudoobstruction [MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978]; Megacystis\|Inborn genetic diseases\|not provided\|Chronic intestinal pseudoobstruction\|Visceral neuropathy, familial, 3, autosomal dominant\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5\|Visceral myopathy 1 [Human Phenotype Ontology:HP:0000021,Human Phenotype Ontology:HP:0002838,MedGen:C1855311\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978\|MONDO:MONDO:0012317,MedGen:C1864996,OMIM:609629,Orphanet:2978\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431\|MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604]; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
256_ARG	HIS	ClinVar chr2:74141963 rs797044959	Pathogenic	-	-	Inborn genetic diseases\|Megacystis [MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0000021,Human Phenotype Ontology:HP:0002838,MedGen:C1855311]; Chronic intestinal pseudoobstruction\|Visceral myopathy 1\|not provided\|Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 [MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978\|MONDO:MONDO:0020754,MedGen:C5542197,OMIM:155310,Orphanet:2604\|MedGen:C3661900\|MONDO:MONDO:0030329,MedGen:C5543636,OMIM:619431]
256_ARG	HIS	ClinVar chr1:229567776 rs1659953887	Pathogenic	-	-	not provided [MedGen:C3661900]
256_ARG	GLY	ClinVar chr1:229567777 -	Likely pathogenic	-	-	Nemaline myopathy\|Congenital myopathy [MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607\|MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245]
256_ARG	CYS	gnomAD chr2:131415088 rs541088594	-	0.000148009	-	-
256_ARG	CYS	8.3kJPN chr2:130832179 rs764045936	-	0.0001	-	-
256_ARG	HIS	8.3kJPN chr2:131220750 rs1257613561	-	0.0002	-	-
256_ARG	CYS	8.3kJPN chr2:131220751 rs765608903	-	0.0003	-	-
256_ARG	CYS	8.3kJPN chr2:131415088 rs541088594	-	0.0001	-	-
256_ARG	CYS	8.3kJPN chr2:132021894 rs751194049	-	0.0001	-	-
257_CYS	TYR	8.3kJPN chr5:56777762 -	-	0.0001	-	-
258_PRO	LEU	ClinVar chr7:5567941 rs1554329281	Likely pathogenic	-	-	not provided\|Inborn genetic diseases [MedGen:CN517202\|MeSH:D030342,MedGen:C0950123]
259_GLU	VAL	ClinVar chr1:229567767 rs121909523	Pathogenic/Likely pathogenic	-	-	Actin accumulation myopathy\|ACTA1-related myopathies\|not provided\|Congenital myopathy 2b, severe infantile, autosomal recessive\|Congenital myopathy with fiber type disproportion [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|\|MedGen:C3661900\|MONDO:MONDO:0859517,MedGen:C5830300,OMIM:620265\|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020]; Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]; Progressive scapulohumeroperoneal distal myopathy [MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]
259_GLU	GLN	gnomAD chr2:130832170 rs201256864	-	0.000281891	-	-
259_GLU	LYS	gnomAD chr2:130832170 rs201256864	-	0.0139462	-	-
259_GLU	GLN	gnomAD chr2:131220742 rs200829486	-	0.00929887	-	-
259_GLU	LYS	gnomAD chr2:131415097 rs767608321	-	0.000144358	-	-
259_GLU	LYS	gnomAD chr2:132021903 rs756053566	-	0.00516108	-	-
259_GLU	LYS	8.3kJPN chr2:132021903 rs756053566	-	0.0001	-	-
260_ALA	GLU	ClinVar chr7:5567935 rs1784808970	Likely pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
260_ALA	VAL	gnomAD chr2:131220738 rs774943606	-	0.000257794	-	-
260_ALA	VAL	gnomAD chr2:131415101 rs559415455	-	0.000185852	-	-
260_ALA	VAL	gnomAD chr2:132021907 rs1362336739	-	0.000121977	-	-
260_ALA	VAL	8.3kJPN chr2:131220738 rs774943606	-	0.0001	-	-
260_ALA	VAL	8.3kJPN chr2:132021907 rs1362336739	-	0.0001	-	-
261_LEU	PHE	8.3kJPN chr2:131415103 -	-	0.0001	-	-
262_PHE	LEU	8.3kJPN chr17:79478230 -	-	0.0001	-	-
263_GLN	ARG	ClinVar chr1:229567755 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
264_PRO	LEU	ClinVar chr17:79478225 rs104894546	Pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|not provided [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MedGen:CN517202]
264_PRO	SER	8.3kJPN chr2:74141986 -	-	0.0001	-	-
266_PHE	SER	ClinVar chr1:229567746 rs1558081605	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
268_GLY	CYS	ClinVar chr1:229567741 rs121909525	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
268_GLY	ARG	ClinVar chr1:229567741 rs121909525	Pathogenic	-	-	Neuromuscular disease\|Actin accumulation myopathy [MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
268_GLY	ARG	ClinVar chr7:5567912 rs1554329269	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
268_GLY	ASP	ClinVar chr1:229567649 rs1553255362	Pathogenic/Likely pathogenic	-	-	Nemaline myopathy 3, autosomal dominant or recessive\|not provided\|Neurodevelopmental delay [MedGen:CN187050\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
268_GLY	CYS	ClinVar chr7:5567912 rs1554329269	Likely pathogenic	-	-	ACTB-related disorders [-]
268_GLY	SER	ClinVar chr1:229567741 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
269_MET	ARG	ClinVar chr1:229567646 rs1553255360	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
269_MET	VAL	ClinVar chr15:35083494 rs2140429730	Pathogenic	-	-	not provided [MedGen:C3661900]
271_SER	PHE	8.3kJPN chr2:130832133 -	-	0.0005	-	-
271_SER	PHE	8.3kJPN chr2:132021940 -	-	0.0005	-	-
272_ALA	VAL	ClinVar chr1:229567637 rs1553255357	Pathogenic	-	-	not provided\|Actin accumulation myopathy\|Progressive scapulohumeroperoneal distal myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852,Orphanet:447977]
272_ALA	GLU	ClinVar chr1:229567637 rs1553255357	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
273_GLY	ASP	gnomAD chr2:130832127 rs200243409	-	0.476053	-	-
273_GLY	ASP	8.3kJPN chr2:130832127 rs200243409	-	0.4535	-	-
273_GLY	ASP	8.3kJPN chr2:131220699 rs199773105	-	0.0016	-	-
273_GLY	ASP	8.3kJPN chr2:132021946 rs62178369	-	0.318	-	-
275_HIS	LEU	ClinVar chr17:79478113 rs2143775813	Likely pathogenic	-	-	not provided [MedGen:C3661900]
275_HIS	GLN	gnomAD chr2:132021953 rs1401664443	-	0.000190371	-	-
275_HIS	TYR	8.3kJPN chr2:130832122 -	-	0.0001	-	-
275_HIS	TYR	8.3kJPN chr2:131220694 rs1440485176	-	0.0002	-	-
276_GLU	LYS	ClinVar chr7:5567793 rs1554329216	Pathogenic/Likely pathogenic	-	-	not provided\|Baraitser-Winter syndrome 1 [MedGen:CN517202\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
276_GLU	LYS	ClinVar chr17:79478111 rs2143775790	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
276_GLU	ASP	ClinVar chr1:229567624 -	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
276_GLU	ASP	gnomAD chr2:132021956 rs569942842	-	0.0094699	-	-
276_GLU	LYS	gnomAD chr5:56777706 rs142178628	-	0.000808907	-	-
277_THR	ILE	ClinVar chr17:79478107 rs2143775764	Pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
278_THR	ILE	ClinVar chr17:79478104 rs28999112	Pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]; Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]
279_TYR	CYS	ClinVar chr1:229567616 rs1659944113	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
279_TYR	HIS	ClinVar chr1:229567617 rs2102735278	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
280_ASN	LYS	ClinVar chr1:229567612 rs2102735270	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
280_ASN	HIS	ClinVar chr1:229567614 -	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
282_ILE	THR	8.3kJPN chr2:130832100 rs1158409505	-	0.0072	-	-
282_ILE	THR	8.3kJPN chr2:132021973 rs1480716800	-	0.0017	-	-
283_MET	VAL	ClinVar chr17:79478090 rs1555666509	Likely pathogenic	-	-	not provided [MedGen:CN517202]
283_MET	THR	ClinVar chr17:79478089 rs2143775617	Likely pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
283_MET	ARG	ClinVar chr1:229567604 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
283_MET	VAL	gnomAD chr2:132021975 rs1445722323	-	0.000213614	-	-
283_MET	VAL	8.3kJPN chr2:132021975 rs1445722323	-	0.0005	-	-
286_ASP	GLY	ClinVar chr1:229567595 -	Pathogenic	-	-	Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
286_ASP	TYR	gnomAD chr5:56777676 rs191631227	-	0.000195171	-	-
286_ASP	GLY	8.3kJPN chr2:131220660 -	-	0.0001	-	-
286_ASP	TYR	8.3kJPN chr5:56777676 rs191631227	-	0.0016	-	-
287_ILE	THR	ClinVar chr15:35083439 rs727504379	Likely pathogenic	-	-	Primary dilated cardiomyopathy\|not provided [EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604\|MedGen:CN517202]
288_ASP	GLY	ClinVar chr17:79478074 rs886041756	Likely pathogenic	-	-	not provided [MedGen:CN517202]
288_ASP	HIS	ClinVar chr1:229567590 rs1553255354	Pathogenic	-	-	Inborn genetic diseases\|Actin accumulation myopathy [MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
288_ASP	ASN	ClinVar chr1:229567590 -	Pathogenic	-	-	Nemaline myopathy [MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607]
288_ASP	VAL	gnomAD chr2:132021991 rs552633031	-	0.000125768	-	-
290_ARG	CYS	ClinVar chr7:5567751 rs1057517888	Likely pathogenic	-	-	not provided [MedGen:CN517202]
290_ARG	CYS	gnomAD chr2:130832077 rs1331656730	-	0.00165533	-	-
290_ARG	HIS	gnomAD chr2:131220648 rs1403407431	-	0.000374392	-	-
290_ARG	HIS	gnomAD chr2:131415191 rs760892111	-	0.000263949	-	-
290_ARG	HIS	8.3kJPN chr2:130832076 rs1395920641	-	0.0001	-	-
290_ARG	CYS	8.3kJPN chr2:131415190 rs775579011	-	0.0001	-	-
290_ARG	HIS	8.3kJPN chr2:131415191 rs760892111	-	-	-	-
290_ARG	CYS	8.3kJPN chr2:132021996 rs746080412	-	0.0001	-	-
292_ASP	VAL	ClinVar chr1:229567577 rs121909529	Pathogenic	-	-	Congenital myopathy with fiber type disproportion\|Actin accumulation myopathy\|Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
292_ASP	GLU	gnomAD chr2:132022004 rs1205858676	-	0.000270309	-	-
292_ASP	TYR	8.3kJPN chr5:56777658 rs772032526	-	0.0005	-	-
293_LEU	ARG	8.3kJPN chr5:56777654 rs548697022	-	0.0004	-	-
294_TYR	CYS	8.3kJPN chr2:131415203 rs1452018722	-	0.0001	-	-
295_ALA	SER	ClinVar chr15:35083416 rs121912675	Pathogenic	-	-	Hypertrophic cardiomyopathy 11\|Atrial septal defect 5 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098\|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]
295_ALA	THR	ClinVar chr1:229567569 -	Pathogenic	-	-	Myopathy [Human Phenotype Ontology:HP:0003198,Human Phenotype Ontology:HP:0003569,Human Phenotype Ontology:HP:0003705,Human Phenotype Ontology:HP:0003742,Human Phenotype Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848]
296_ASN	LYS	ClinVar chr7:5567731 rs769182426	Likely pathogenic	-	-	Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
298_VAL	LEU	gnomAD chr2:131415214 rs548197110	-	0.00052849	-	-
298_VAL	MET	8.3kJPN chr2:132022020 -	-	0.0001	-	-
298_VAL	GLU	8.3kJPN chr2:132022021 rs1410274773	-	0.0003	-	-
302_GLY	ALA	ClinVar chr7:5567714 -	Pathogenic	-	-	not provided [MedGen:CN517202]
302_GLY	ASP	gnomAD chr2:131220612 rs1263685725	-	0.000641849	-	-
302_GLY	ASP	8.3kJPN chr2:130832040 rs1329985221	-	0.0001	-	-
302_GLY	SER	8.3kJPN chr2:130832041 rs1298799127	-	0.0004	-	-
302_GLY	SER	8.3kJPN chr2:131220613 rs1477361505	-	0.0003	-	-
302_GLY	SER	8.3kJPN chr2:131415226 rs530783531	-	0.0012	-	-
305_MET	ARG	ClinVar chr1:229567538 -	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
305_MET	ILE	gnomAD chr2:132022043 rs1441453486	-	0.00114704	-	-
305_MET	THR	8.3kJPN chr2:130832031 -	-	0.0001	-	-
307_PRO	SER	ClinVar chr1:229567533 -	Likely pathogenic	-	-	Congenital myopathy [MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245]
309_MET	VAL	8.3kJPN chr2:131415247 -	-	0.0002	-	-
311_ASP	HIS	ClinVar chr7:5567688 rs1784803432	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
312_ARG	HIS	ClinVar chr15:35083364 rs121912673	Likely pathogenic	-	-	Dilated cardiomyopathy 1R\|not provided\|Atrial septal defect 5 [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260\|MedGen:C3661900\|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]
312_ARG	TER	ClinVar chr10:90697868 rs886038978	Pathogenic/Likely pathogenic	-	-	Aortic aneurysm, familial thoracic 6\|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0012730,MedGen:C2673186,OMIM:611788\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
315_LYS	ASN	ClinVar chr15:35083354 -	Likely pathogenic	-	-	Atrial septal defect 5 [MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]
316_GLU	LYS	ClinVar chr15:35083353 rs730880403	Likely pathogenic	-	-	not provided [MedGen:CN517202]
318_ALA	THR	8.3kJPN chr2:130831993 rs1433532425	-	0.0001	-	-
318_ALA	THR	8.3kJPN chr2:131415274 rs1370046465	-	0.0001	-	-
318_ALA	THR	8.3kJPN chr2:132022080 rs1250055033	-	0.0001	-	-
319_ALA	SER	gnomAD chr2:130831990 rs1388288122	-	0.000280804	-	-
322_PRO	ARG	ClinVar chr7:5567654 rs1784802825	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
322_PRO	LEU	ClinVar chr2:74143873 rs2104825201	Likely pathogenic	-	-	Chronic intestinal pseudoobstruction [MONDO:MONDO:0017574,MedGen:C0238062,Orphanet:2978]
322_PRO	ARG	gnomAD chr2:131220552 rs1265992054	-	0.000825083	-	-
322_PRO	LEU	gnomAD chr2:131415287 rs552095587	-	0.00329082	-	-
323_SER	ASN	8.3kJPN chr2:132022096 -	-	0.0003	-	-
323_SER	ILE	8.3kJPN chr17:79477969 -	-	0.0001	-	-
324_MET	THR	gnomAD chr2:132022099 rs1169124532	-	0.0022774	-	-
324_MET	ILE	8.3kJPN chr2:130831973 -	-	0.0002	-	-
325_MET	LYS	ClinVar chr1:229567478 rs2102735175	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
325_LEU	MET	gnomAD chr2:131220544 rs769164031	-	0.700698	-	-
325_LEU	MET	8.3kJPN chr2:131220544 rs769164031	-	0.7665	-	-
326_LYS	ASN	ClinVar chr1:229567474 rs398122936	Pathogenic	-	-	Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
328_ARG	LYS	gnomAD chr2:131415305 rs570591655	-	0.000187767	-	-
328_ARG	LYS	gnomAD chr2:132022111 rs1419665113	-	0.000128875	-	-
330_ILE	VAL	8.3kJPN chr1:229567386 -	-	0.0001	-	-
330_ILE	VAL	8.3kJPN chr2:131415310 rs1203074814	-	0.0001	-	-
331_ALA	PRO	ClinVar chr15:35082750 rs267606629	Pathogenic	-	-	Hypertrophic cardiomyopathy 11\|Atrial septal defect 5 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098\|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478]; Dilated cardiomyopathy 1R [MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260]; Hypertrophic cardiomyopathy 11 [MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098]
332_PRO	SER	ClinVar chr1:229567380 rs121909531	Likely pathogenic	-	-	Congenital myopathy with fiber type disproportion\|Actin accumulation myopathy\|Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904\|MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
332_PRO	ALA	ClinVar chr17:79477850 rs104894545	Pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20\|Baraitser-winter syndrome 2 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635\|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
332_PRO	ARG	ClinVar chr1:229567379 rs1553255312	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
332_PRO	HIS	8.3kJPN chr2:132022123 -	-	0.0004	-	-
333_PRO	GLN	ClinVar chr1:229567376 rs1057518493	Likely pathogenic	-	-	not provided [MedGen:CN517202]
333_PRO	LEU	ClinVar chr1:229567376 rs1057518493	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
333_PRO	ALA	ClinVar chr1:229567377 rs1558081384	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
333_PRO	ARG	ClinVar chr1:229567376 rs1057518493	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
334_GLU	ALA	ClinVar chr1:229567373 rs121909528	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
334_GLU	ASP	ClinVar chr17:79477842 rs113262912	Likely pathogenic	-	-	Rare genetic deafness [MedGen:C5680250,Orphanet:96210]
334_GLU	ASP	ClinVar chr1:229567372 -	Likely pathogenic	-	-	ACTA1-related condition [-]
335_ARG	HIS	ClinVar chr17:79477840 rs1555666392	Pathogenic/Likely pathogenic	-	-	Inborn genetic diseases\|Baraitser-winter syndrome 2\|Neurodevelopmental delay [MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
335_ARG	CYS	ClinVar chr7:5567504 rs1784799038	Likely pathogenic	-	-	not provided [MedGen:C3661900]
335_ARG	LEU	gnomAD chr2:130831941 rs1208718953	-	0.000222198	-	-
335_ARG	GLN	8.3kJPN chr2:74146578 rs1247270735	-	0.0001	-	-
335_ARG	HIS	8.3kJPN chr2:131415326 rs1475294107	-	0.0001	-	-
335_ARG	HIS	8.3kJPN chr2:132022132 rs1405334512	-	0.0005	-	-
338_SER	PHE	ClinVar chr7:5567494 rs1554329113	Likely pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
338_SER	TRP	ClinVar chr17:79477831 rs1192977984	Likely pathogenic	-	-	Baraitser-winter syndrome 2 [MONDO:MONDO:0013812,MedGen:C3281235,OMIM:614583,Orphanet:2995]; Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
338_SER	PHE	gnomAD chr2:130831932 rs1316551481	-	0.000184795	-	-
339_VAL	MET	gnomAD chr2:130831930 rs200913020	-	0.00204886	-	-
339_VAL	MET	gnomAD chr2:131220502 rs4850284	-	0.150659	-	-
339_VAL	MET	gnomAD chr2:131415337 rs534828213	-	0.00555061	-	-
339_VAL	MET	gnomAD chr2:132022143 rs1340227061	-	0.000925515	-	-
339_VAL	MET	8.3kJPN chr2:130831930 rs200913020	-	0.2352	-	-
339_VAL	MET	8.3kJPN chr2:131220502 rs4850284	-	0.8528	-	-
339_VAL	MET	8.3kJPN chr2:131415337 rs534828213	-	0.3171	-	-
339_VAL	MET	8.3kJPN chr2:132022143 rs1340227061	-	0.0004	-	-
340_TRP	CYS	ClinVar chr7:5567487 rs886041790	Pathogenic	-	-	not provided [MedGen:CN517202]
340_TRP	CYS	ClinVar chr7:5567487 rs886041790	Likely pathogenic	-	-	not provided [MedGen:CN517202]
341_VAL	PHE	8.3kJPN chr2:131415343 rs1469949487	-	0.0001	-	-
342_GLY	SER	gnomAD chr2:130831921 rs1348356045	-	0.000128135	-	-
342_GLY	SER	gnomAD chr2:132022152 rs1361950856	-	0.000851347	-	-
342_GLY	SER	8.3kJPN chr2:130831921 rs1348356045	-	0.0002	-	-
342_GLY	SER	8.3kJPN chr2:131220493 rs1296351636	-	0.0003	-	-
342_GLY	SER	8.3kJPN chr2:131415346 rs773872488	-	0.0004	-	-
347_ALA	VAL	gnomAD chr2:130831905 rs1166832413	-	0.000135428	-	-
347_ALA	THR	8.3kJPN chr2:131415361 -	-	0.0005	-	-
348_SER	LEU	ClinVar chr7:5567464 rs886041309	Pathogenic/Likely pathogenic	-	-	not provided\|Intellectual disability\|Baraitser-Winter syndrome 1 [MedGen:C3661900\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
348_SER	LEU	ClinVar chr1:229567331 rs2102735031	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
348_SER	LEU	8.3kJPN chr2:132022171 rs1194969990	-	0.0001	-	-
349_LEU	VAL	ClinVar chr7:5567462 rs1584261177	Likely pathogenic	-	-	not provided [MedGen:C3661900]
350_SER	PRO	ClinVar chr1:229567326 rs1553255301	Pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
351_THR	ALA	gnomAD chr5:56777481 rs150894951	-	0.000915685	-	-
352_PHE	LEU	ClinVar chr1:229567320 rs2102735014	Likely pathogenic	-	-	ACTA1-related myopathies [-]
353_GLN	TER	8.3kJPN chr2:130831888 rs780382031	-	0.0004	-	-
355_MET	ILE	8.3kJPN chr10:90695043 -	-	0.0001	-	-
356_TRP	CYS	ClinVar chr1:229567306 rs587777354	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
357_ILE	LEU	ClinVar chr1:229567305 rs121909524	Pathogenic	-	-	Congenital myopathy 2c, severe infantile, autosomal dominant [MONDO:MONDO:0859523,MedGen:C5830333,OMIM:620278]
357_ILE	SER	ClinVar chr10:90695038 rs2133237860	Likely pathogenic	-	-	not provided [MedGen:C3661900]
357_ILE	VAL	ClinVar chr1:229567305 -	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
357_ILE	MET	8.3kJPN chr2:130831874 rs1186106272	-	0.0001	-	-
363_ASP	HIS	8.3kJPN chr2:131415409 -	-	0.0001	-	-
363_ASP	GLY	8.3kJPN chr2:132022216 -	-	0.0001	-	-
364_GLU	LYS	8.3kJPN chr5:56777442 rs182995342	-	0.0001	-	-
366_GLY	ASP	8.3kJPN chr2:130831848 rs370212198	-	0.0006	-	-
367_PRO	LEU	ClinVar chr1:229567274 rs1553255293	Likely pathogenic	-	-	not provided\|Actin accumulation myopathy [MedGen:C3661900\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
367_PRO	ALA	8.3kJPN chr2:130831846 -	-	0.0001	-	-
367_PRO	LEU	8.3kJPN chr10:90695008 rs1290905867	-	0.0001	-	-
369_ILE	VAL	8.3kJPN chr17:79477739 -	-	0.0001	-	-
370_VAL	ALA	ClinVar chr17:79477735 rs104894547	Pathogenic	-	-	Autosomal dominant nonsyndromic hearing loss 20 [MONDO:MONDO:0011480,MedGen:C1858172,OMIM:604717,Orphanet:90635]
371_HIS	GLN	ClinVar chr1:229567261 -	Likely pathogenic	-	-	not provided [MedGen:CN517202]
371_HIS	TYR	gnomAD chr2:130831834 rs199947681	-	0.0053325	-	-
372_ARG	HIS	gnomAD chr2:131220402 rs1479226927	-	0.000689655	-	-
372_ARG	HIS	gnomAD chr2:131415437 rs1485807700	-	0.00015528	-	-
372_ARG	CYS	gnomAD chr2:132022242 rs200308787	-	0.000278862	-	-
372_ARG	HIS	gnomAD chr2:132022243 rs1247402800	-	0.000855146	-	-
372_ARG	CYS	8.3kJPN chr2:131415436 rs1281797709	-	0.0001	-	-
372_ARG	HIS	8.3kJPN chr2:131415437 rs1485807700	-	0.0002	-	-
372_ARG	CYS	8.3kJPN chr2:132022242 rs200308787	-	0.0053	-	-
373_LYS	TER	ClinVar chr7:5567390 rs1554329068	Pathogenic	-	-	Baraitser-Winter syndrome 1 [MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310,Orphanet:2649,Orphanet:2995]
373_LYS	GLU	ClinVar chr1:229567257 rs1571892209	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
373_LYS	ASN	ClinVar chr1:229567255 -	Likely pathogenic	-	-	Nemaline myopathy [MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800,Orphanet:607]
374_CYS	PHE	ClinVar chr1:229567253 rs1571892196	Pathogenic/Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
374_CYS	TYR	gnomAD chr2:131415443 rs1209680458	-	0.000478717	-	-
375_PHE	SER	ClinVar chr1:229567250 rs1571892193	Likely pathogenic	-	-	Actin accumulation myopathy [MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800,Orphanet:98904]
375_PHE	LEU	gnomAD chr2:131220392 rs1250476936	-	0.192893	-	-
375_PHE	LEU	gnomAD chr2:131415447 rs1255188621	-	0.0017958	-	-
375_LEU	PHE	8.3kJPN chr2:130831820 rs1224565743	-	0.0001	-	-
375_PHE	LEU	8.3kJPN chr2:131220392 rs1250476936	-	0.0007	-	-
375_PHE	LEU	8.3kJPN chr2:131415447 rs1255188621	-	0.0007	-	-
375_PHE	LEU	8.3kJPN chr2:132022253 rs1206470114	-	0.0291	-	-

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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

	P10987	Actin-5C
	L0I5A1	T3SS2 effector VopL nucleation of actin polymerization

	P00639	Deoxyribonuclease-1
	26454860	Wiskott-Aldrich syndrome protein family member 2

	P00639	Deoxyribonuclease-1
	O43516	Wiskott-Aldrich syndrome protein interacting protein

	P68135	Actin, alpha skeletal muscle
	P62328	Thymosin beta-4,Protein cordon-bleu,Thymosin beta-4

	Q91YR1	Twinfilin-1
	P40124	Adenylyl cyclase-associated protein 1

	P68135	ACTIN, ALPHA SKELETAL MUSCLE
	2V51	MKL/MYOCARDIN-LIKE PROTEIN 1

	P00639	Deoxyribonuclease-1
	O75807	Protein phosphatase 1 regulatory subunit 15A

	P68135	Actin, alpha skeletal muscle
	7WHG	Lokiarchaeota gelsolin (2DGel)

	P68135	Actin, alpha skeletal muscle
	Q923G3	F-actin-capping protein subunit beta
	Q5RKN9	F-actin-capping protein subunit alpha
	Q12792	Twinfilin-1

	P07737	Profilin-1
	Q93015	N-alpha-acetyltransferase 80

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