PDB ID 3CJC     CHAIN A
Protein name Actin, alpha skeletal muscle
Uniprot Accession P68135
The number of similar proteins 154
The number of binding states 43
The number of binding partners 31

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MCDEDETTAL   VCDNGSGLVK   AGFAGDDAPR   AVFPSIVGRP   RHQGVMVGMG   50
51   QKDSYVGDEA   QSKRGILTLK   YPIEHGIITN   WDDMEKIWHH   TFYNELRVAP   100
101   EEHPTLLTEA   PLNPKANREK   MTQIMFETFN   VPAMYVAIQA   VLSLYASGRT   150
151   TGIVLDSGDG   VTHNVPIYEG   YALPHAIMRL   DLAGRDLTDY   LMKILTERGY   200
201   SFVTTAEREI   VRDIKEKLCY   VALDFENEMA   TAASSSSLEK   SYELPDGQVI   250
251   TIGNERFRCP   ETLFQPSFIG   MESAGIHETT   YNSIMKCDID   IRKDLYANNV   300
301   MSGGTTMYPG   IADRMQKEIT   ALAPSTMKIK   IIAPPERKYS   VWIGGSILAS   350
351   LSTFQQMWIT   KQEYDEAGPS   IVHRKCF       400

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
1_ASP TYR ClinVar
chr1:229568856 		rs121909527
Pathogenic - Myopathy, actin, congenital, with cores [MedGen:C2750537]
2_ASP HIS ClinVar
chr15:35087000 		rs730880408
Likely pathogenic - not provided [MedGen:CN517202]
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 - Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]; Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
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 		-
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
9_VAL ILE gnomAD
chr2:131414347 		rs369601422
- 0.000174562 -
10_CYS TER ClinVar
chr1:229568827 		-
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
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 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
12_ASN HIS ClinVar
chr7:5569255 		rs281875331
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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 -
15_GLY ARG ClinVar
chr1:229568814 		rs121909521
Pathogenic - Myopathy, actin, congenital, with excess of thin myofilaments [MedGen:C1834339]
15_GLY ARG ClinVar
chr17:79479338 		rs1057518086
Likely pathogenic - not provided [MedGen:CN517202]
15_GLY ALA 8.3kJPN
chr2:132021172 		-
- 0.0001 -
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 -
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 ClinVar
chr15:35086943 		rs193922681
Likely pathogenic - Primary familial hypertrophic cardiomyopathy [MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005]
21_PHE LEU 8.3kJPN
chr2:130832882 		-
- 0.0001 -
22_ALA THR ClinVar
chr7:5569225 		rs587780273
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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 gnomAD
chr2:131414392 		rs572289826
- 0.000151467 -
24_ASP ASN 8.3kJPN
chr2:131414392 		rs572289826
- 0.0002 -
25_ASP VAL 8.3kJPN
chr2:130832871 		-
- 0.0001 -
25_ASP GLU 8.3kJPN
chr5:56778457 		-
- 0.0001 -
26_ALA VAL gnomAD
chr2:131221440 		rs777332284
- 0.00012477 -
26_ALA ASP 8.3kJPN
chr2:131221440 		rs777332284
- 0.0001 -
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 ALA 8.3kJPN
chr2:74128535 		-
- 0.0001 -
35_VAL LEU ClinVar
chr1:229568754 		rs1553255521
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
35_VAL MET 8.3kJPN
chr2:131414425 		rs761434672
- 0.0001 -
37_ARG CYS ClinVar
chr10:90708573 		rs112901682
Pathogenic/Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202]
37_ARG HIS ClinVar
chr2:74128551 		rs869312168
Pathogenic - Chronic intestinal pseudoobstruction [MedGen:C0238062,Orphanet:ORPHA2978]
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 [MedGen:CN031204,OMIM:243310]
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 [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]; not provided [MedGen:CN517202]
40_HIS TYR ClinVar
chr17:79479263 		rs1057518673
Likely pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]
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 GLU 8.3kJPN
chr2:131414443 		rs1394024885
- 0.0001 -
42_GLY CYS ClinVar
chr1:229568627 		rs1131691941
Likely pathogenic - not provided [MedGen:CN517202]
42_GLY SER ClinVar
chr7:5569031 		-
Likely pathogenic - not provided [MedGen:CN517202]
43_VAL PHE ClinVar
chr1:229568624 		rs398123562
Pathogenic/Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
43_VAL MET ClinVar
chr7:5569028 		rs886041267
Likely 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 [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
44_MET LYS ClinVar
chr17:79479161 		rs886041280
Likely pathogenic - not provided [MedGen:CN517202]
44_MET THR ClinVar
chr1:229568620 		rs1057521120
Likely pathogenic - not provided [MedGen:CN517202]
44_MET ARG ClinVar
chr10:90707136 		rs1554841843
Likely pathogenic - not provided [MedGen:CN517202]
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 [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
46_GLY SER ClinVar
chr1:229568615 		rs794727488
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]; not provided [MedGen:CN517202]
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 [MedGen:C2673186,OMIM:611788]
47_MET THR ClinVar
chr10:90707127 		rs869025352
Likely pathogenic - Cardiovascular phenotype [MedGen:CN230736]
47_MET ARG ClinVar
chr1:229568611 		rs1553255506
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
49_GLN HIS 8.3kJPN
chr2:132021275 		-
- 0.0001 -
51_GLU TER 8.3kJPN
chr2:131414473 		rs767259354
- 0.0002 -
52_CYS SER 8.3kJPN
chr5:56778378 		-
- 0.0001 -
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 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 [MedGen:CN517202]
56_LYS GLU gnomAD
chr2:132021294 		rs375157128
- 0.00118207 -
59_GLN PRO 8.3kJPN
chr2:132021304 		-
- 0.0001 -
60_SER GLY 8.3kJPN
chr15:35085716 		-
- 0.0001 -
62_ARG GLY ClinVar
chr2:74129547 		rs864309491
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
64_ILE ASN ClinVar
chr1:229568560 		rs1553255502
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
65_LEU VAL ClinVar
chr7:5568962 		rs281875332
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
65_LEU PHE ClinVar
chr7:5568962 		rs281875332
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
66_THR ASN 8.3kJPN
chr2:131414519 		-
- 0.0001 -
70_PRO LEU ClinVar
chr7:5568946 		rs587779769
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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]
72_GLU GLY ClinVar
chr7:5568940 		rs1131691341
Likely pathogenic - not provided [MedGen:CN517202]
73_HIS ASP ClinVar
chr7:5568938 		rs786205585
Likely pathogenic - not provided [MedGen:CN517202]
73_HIS TYR ClinVar
chr7:5568938 		rs786205585
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
74_GLY SER ClinVar
chr7:5568935 		rs587779770
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
74_GLY SER ClinVar
chr10:90707047 		rs1064793016
Likely pathogenic - not provided [MedGen:CN517202]
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 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
76_ILE ASN gnomAD
chr2:132021355 		rs763149872
- 0.00042001 -
76_VAL ALA gnomAD
chr5:56778305 		rs148214432
- 0.00316009 -
79_TRP TER ClinVar
chr1:229568514 		rs886039302
Likely pathogenic - not provided [MedGen:CN517202]
80_ASP GLU ClinVar
chr10:90707027 		rs1254836237
Likely pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]
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 - Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]
92_ASN SER ClinVar
chr15:35085619 		rs767734253
Likely pathogenic - Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]
92_ASN LYS 8.3kJPN
chr2:130832669 		rs538524883
- 0.0001 -
93_GLU LYS ClinVar
chr17:79479015 		-
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 - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
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 - Atrial septal defect 5 [MedGen:C2748552,OMIM:612794]; Dilated cardiomyopathy 1R [MedGen:C3150681,OMIM:613424]; Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]; Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]; Left ventricular noncompaction 4 [MedGen:C3150682]; Primary familial hypertrophic cardiomyopathy [MedGen:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005]; not provided [MedGen:CN517202]
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_VAL LEU ClinVar
chr7:5568848 		rs587779772
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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 8.3kJPN
chr2:131414633 		rs1481441001
- 0.0001 -
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 THR gnomAD
chr2:130832623 		rs201946907
- 0.000206799 -
108_ALA THR 8.3kJPN
chr2:131414644 		rs755328446
- 0.0002 -
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 8.3kJPN
chr2:131414653 		rs558817093
- 0.001 -
112_PRO ARG gnomAD
chr2:132021463 		rs200002532
- 0.00363556 -
112_PRO ALA 8.3kJPN
chr2:131221183 		rs755787111
- 0.0016 -
115_ASN SER ClinVar
chr1:229568407 		rs121909520
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
115_ASN SER ClinVar
chr2:74135891 		rs1057522054
Likely pathogenic - not provided [MedGen:CN517202]
115_ASN ILE 8.3kJPN
chr2:131221173 		rs765608208
- 0.0002 -
116_ARG GLN ClinVar
chr10:90703570 		rs112602953
Pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Cardiovascular phenotype [MedGen:CN230736]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202]
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 [MedGen:CN031204,OMIM:243310]
117_GLU ASP ClinVar
chr7:5568804 		rs765265404
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
117_GLU VAL ClinVar
chr7:5568805 		rs1554329516
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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
Likely pathogenic - Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]; not provided [MedGen:CN517202]
118_LYS ASN ClinVar
chr17:79478938 		rs267606630
Pathogenic - Deafness, autosomal dominant 20 [MedGen:C1858172,OMIM:604717]; not provided [MedGen:CN517202]
119_MET THR ClinVar
chr7:5568799 		rs587779773
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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 - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
120_THR ILE ClinVar
chr7:5568796 		rs587779774
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
122_ILE THR gnomAD
chr2:131414687 		rs760030744
- 0.000113968 -
123_MET VAL ClinVar
chr15:35085527 		rs121912677
Pathogenic - Atrial septal defect 5 [MedGen:C2748552,OMIM:612794]
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 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 [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
134_VAL MET gnomAD
chr2:130832545 		rs199777567
- 0.00248706 -
135_ALA VAL ClinVar
chr17:79478612 		rs11549190
Pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
136_ILE MET ClinVar
chr1:229568343 		rs121909526
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
136_ILE ASN ClinVar
chr1:229568344 		rs587780271
Likely pathogenic - Nemaline myopathy 3, autosomal dominant or recessive [MedGen:CN187050]
137_GLN ARG 8.3kJPN
chr5:56778122 		-
- 0.0001 -
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_PRO LEU 8.3kJPN
chr2:132021547 		rs7425410
- 0.0956 -
142_LEU PHE ClinVar
chr1:229568327 		rs886039557
Pathogenic - not provided [MedGen:CN517202]
142_LEU ARG 8.3kJPN
chr2:132021553 		-
- 0.0001 -
143_TYR TER ClinVar
chr1:229568322 		rs371410845
Pathogenic - not provided [MedGen:CN517202]
144_ALA THR ClinVar
chr17:79478586 		rs11549196
Likely pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]
144_THR PRO 8.3kJPN
chr2:130832515 		-
- 0.0001 -
144_ALA VAL 8.3kJPN
chr5:56778101 		-
- 0.0001 -
146_GLY SER ClinVar
chr1:229568315 		rs398123563
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
146_GLY ARG ClinVar
chr1:229568315 		rs398123563
Pathogenic - not provided [MedGen:CN517202]
147_ARG CYS ClinVar
chr10:90701551 		rs121434526
Pathogenic - Aortic aneurysm, familial thoracic 2 [MedGen:C1846837,OMIM:607087]; Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Cardiovascular phenotype [MedGen:CN230736]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202]
147_ARG SER ClinVar
chr2:74136257 		rs587777383
Pathogenic - Chronic intestinal pseudoobstruction [MedGen:C0238062,Orphanet:ORPHA2978]; Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
147_ARG LEU ClinVar
chr2:74136258 		rs730880256
Likely pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
147_ARG LEU ClinVar
chr10:90701550 		rs794728025
Likely pathogenic - not provided [MedGen:CN517202]
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 - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
149_THR ILE ClinVar
chr7:5568268 		rs587779775
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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 [MedGen:CN235626]
152_VAL ALA ClinVar
chr1:229568172 		rs1553255446
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
152_VAL ILE 8.3kJPN
chr2:74140617 		rs762871917
- 0.0001 -
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 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
155_SER CYS 8.3kJPN
chr2:132021592 		-
- 0.0001 -
158_GLY ARG gnomAD
chr2:131414794 		rs771270515
- 0.000126748 -
160_THR ILE ClinVar
chr7:5568235 		rs1057518073
Likely pathogenic - not provided [MedGen:CN517202]
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 - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
163_VAL MET ClinVar
chr1:229568140 		rs121909522
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
163_VAL LEU ClinVar
chr1:229568140 		rs121909522
Pathogenic - Myopathy, scapulohumeroperoneal [MedGen:C4225181,OMIM:616852,Orphanet:ORPHA447977]
164_PRO ALA ClinVar
chr15:35084729 		rs267606628
Pathogenic - Familial hypertrophic cardiomyopathy 11 [MedGen:C2677506,OMIM:612098]
164_PRO THR 8.3kJPN
chr2:132021618 		-
- 0.0001 -
165_ILE MET ClinVar
chr7:5568219 		-
Likely pathogenic - not provided [MedGen:CN517202]
165_ILE MET gnomAD
chr2:132021623 		rs377356093
- 0.000120811 -
165_ILE VAL 8.3kJPN
chr2:131221024 		-
- 0.0001 -
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 -
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 -
172_PRO LEU ClinVar
chr1:229568112 		rs1057519311
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
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 -
176_LEU PRO ClinVar
chr7:5568187 		rs1554329331
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
177_ARG HIS ClinVar
chr10:90701066 		rs387906592
Pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; Cardiovascular phenotype [MedGen:CN230736]; Connective tissue disorder [MedGen:C0009782]; Moyamoya disease 5 [MedGen:C3279690,OMIM:614042]; Multisystemic smooth muscle dysfunction syndrome [MedGen:C3151201,OMIM:613834,Orphanet:ORPHA404463]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; alterations of great arteries and veins [MedGen:CN239849]; not provided [MedGen:CN517202]
177_ARG LEU ClinVar
chr2:74140693 		rs587777384
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
177_ARG CYS ClinVar
chr2:74140692 		rs78001248
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]; not provided [MedGen:CN517202]
177_ARG HIS ClinVar
chr2:74140693 		rs587777384
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
177_ARG LEU ClinVar
chr1:229568097 		rs727503797
Likely pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
177_ARG CYS ClinVar
chr10:90701067 		rs886039303
Pathogenic - Aortic aneurysm, familial thoracic 6 [MedGen:C2673186,OMIM:611788]; not provided [MedGen:CN517202]
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 GLU ClinVar
chr7:5568177 		rs797044950
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
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 -
183_ARG TRP ClinVar
chr7:5568167 		rs104894003
Pathogenic/Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Juvenile-onset dystonia [MedGen:C1846331,OMIM:607371,Orphanet:ORPHA79107]; not provided [MedGen:CN517202]
183_ARG TRP ClinVar
chr15:35084672 		rs397517065
Likely pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Primary dilated cardiomyopathy [EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004]
183_ARG SER ClinVar
chr1:229568080 		rs1064794287
Pathogenic - not provided [MedGen:CN517202]
183_ARG CYS ClinVar
chr1:229568080 		rs1064794287
Pathogenic - Nemaline myopathy 3 [MedGen:C3711389,OMIM:161800,Orphanet:ORPHA98904]
183_ARG TRP gnomAD
chr2:132021675 		rs757786218
- 0.000136692 -
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 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 ILE ClinVar
chr2:74140744 		rs1057520694
Pathogenic - not provided [MedGen:CN517202]
194_THR ILE gnomAD
chr2:130832364 		rs185469611
- 0.0110298 -
195_GLU ASP ClinVar
chr1:229568042 		rs869312739
Pathogenic - Myopathy, scapulohumeroperoneal [MedGen:C4225181,OMIM:616852,Orphanet:ORPHA447977]; not provided [MedGen:CN517202]
195_GLU ASP ClinVar
chr2:74140748 		rs140943831
Likely pathogenic - not provided [MedGen:CN517202]
195_GLU LYS gnomAD
chr2:131414905 		rs530033416
- 0.000181449 -
196_ARG HIS ClinVar
chr7:5568127 		rs281875334
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
196_ARG CYS ClinVar
chr7:5568128 		rs281875333
Likely pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
196_ARG SER ClinVar
chr7:5568128 		rs281875333
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
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 [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
197_GLY ASP 8.3kJPN
chr2:131220927 		rs1349939724
- 0.0002 -
197_GLY ALA 8.3kJPN
chr2:132021718 		-
- 0.0001 -
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 [MedGen:C3281235,OMIM:614583]
201_VAL ILE 8.3kJPN
chr10:90700995 		rs397516684
- 0.0001 -
202_THR PRO 8.3kJPN
chr2:131414926 		-
- 0.0001 -
203_THR LYS ClinVar
chr17:79478408 		rs281875327
Pathogenic - Baraitser-Winter Syndrome 2 [MedGen:C3281235,OMIM:614583]; not provided [MedGen:CN517202]
203_MET VAL 8.3kJPN
chr2:131414929 		rs569948094
- 0.0002 -
204_ALA GLY ClinVar
chr7:5568103 		rs587779776
Pathogenic - Baraitser-Winter syndrome 1 [MedGen:CN031204,OMIM:243310]
204_ALA THR ClinVar
chr2:74140773 		rs1057516046
Pathogenic - Visceral myopathy [MedGen:C0042781,OMIM:155310,Orphanet:ORPHA2241]
204_ALA THR ClinVar
chr1:229568017 		rs1057521119
Likely pathogenic - not provided [MedGen:CN517202]
204_ALA GLY ClinVar
chr17:79478405 		rs11549225
Likely pathogenic - not provided [MedGen:CN517202]
205_GLU ASP ClinVar
chr1:229567928 		rs367543050
Pathogenic - Congenital myopathy with fiber type disproportion [MedGen:C0546264,OMIM:255310,Orphanet:ORPHA2020,SNOMED CT:240084007]
205_GLU LYS gnomAD
chr2:132021741 		rs200315167
- 0.00632675 -
206_ARG GLY ClinVar
chr7:5568098 		rs1057518071
Likely pathogenic - not provided [MedGen:CN517202]
206_ARG GLN ClinVar
chr17:79478399 		rs1555666715
Likely pathogenic - Nonsyndromic hearing loss and deafness [MedGen:CN043648,Orphanet:ORPHA87884]
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 [MedGen:CN031204,OMIM:243310]; not provided [MedGen:CN517202]
209_VAL MET gnomAD
chr2:131414947 		rs202097988
- 0.0011313 -
209_VAL MET 8.3kJPN
chr2:131414947 		rs202097988