UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23392890C= | CA2123413476 | MYH6 | c.3251+22G= (n.3251+22G=) | |
| 14 | g.23392890C>T | CA7115269 | MYH6 | c.3251+22G>A (n.3251+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392893G>T | CA2575485977 | MYH6 | c.3251+19C>A (n.3251+19C>A) | |
| 14 | g.23392894G>A | CA2123413478 | MYH6 | c.3251+18C>T (n.3251+18C>T) | dbSNP gnomAD v4 |
| 14 | g.23392894G= | CA2123413477 | MYH6 | c.3251+18C= (n.3251+18C=) | |
| 14 | g.23392894G>T | CA2624250943 | MYH6 | c.3251+18C>A (n.3251+18C>A) | gnomAD v4 |
| 14 | g.23392896C= | CA2123413479 | MYH6 | c.3251+16G= (n.3251+16G=) | |
| 14 | g.23392896C>T | CA7115270 | MYH6 | c.3251+16G>A (n.3251+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23392898_23392900delinsCCA | CA2123413480 | MYH6 | c.3251+12_3251+14delinsTGG (n.3251+12_3251+14delinsTGG) | |
| 14 | g.23392901_23392902del | CA612933440 | MYH6 | c.3251+12_3251+13del (n.3251+12_3251+13del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23392901C>T | CA2624250959 | MYH6 | c.3251+11G>A (n.3251+11G>A) | gnomAD v4 |
| 14 | g.23392902A= | CA2123413481 | MYH6 | c.3251+10T= (n.3251+10T=) | |
| 14 | g.23392902A>C | CA257785588 | MYH6 | c.3251+10T>G (n.3251+10T>G) | dbSNP |
| 14 | g.23392903G>C | CA2575485979 | MYH6 | c.3251+9C>G (n.3251+9C>G) | |
| 14 | g.23392903G= | CA2123413482 | MYH6 | c.3251+9C= (n.3251+9C=) | |
| 14 | g.23392903G>T | CA7115271 | MYH6 | c.3251+9C>A (n.3251+9C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392904T>C | CA961068529 | MYH6 | c.3251+8A>G (n.3251+8A>G) | dbSNP |
| 14 | g.23392904T= | CA2123413483 | MYH6 | c.3251+8A= (n.3251+8A=) | |
| 14 | g.23392905C= | CA2123413484 | MYH6 | c.3251+7G= (n.3251+7G=) | |
| 14 | g.23392905C>T | CA915948897 | MYH6 | c.3251+7G>A (n.3251+7G>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23392906T>G | CA704269889 | MYH6 | c.3251+6A>C (n.3251+6A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23392906T= | CA2123413485 | MYH6 | c.3251+6A= (n.3251+6A=) | |
| 14 | g.23392907C= | CA2123413486 | MYH6 | c.3251+5G= (n.3251+5G=) | |
| 14 | g.23392907C>T | CA612933442 | MYH6 | c.3251+5G>A (n.3251+5G>A) | dbSNP gnomAD v2 |
| 14 | g.23392910A= | CA2123413487 | MYH6 | c.3251+2T= (n.3251+2T=) | |
| 14 | g.23392910A>C | CA389007492 | MYH6 | c.3251+2T>G (n.3251+2T>G) | |
| 14 | g.23392910A>G | CA389007494 | MYH6 | c.3251+2T>C (n.3251+2T>C) | |
| 14 | g.23392910A>T | CA257785593 | MYH6 | c.3251+2T>A (n.3251+2T>A) | dbSNP |
| 14 | g.23392911C>A | CA389007497 | MYH6 | c.3251+1G>T (n.3251+1G>T) | |
| 14 | g.23392911C>G | CA389007499 | MYH6 | c.3251+1G>C (n.3251+1G>C) | |
| 14 | g.23392911C>T | CA389007501 | MYH6 | c.3251+1G>A (n.3251+1G>A) | gnomAD v4 |
| 14 | g.23392912T>A | CA389007507 | MYH6 | c.3251A>T (p.Lys1084Met) | |
| 14 | g.23392912T>C | CA389007505 | MYH6 | c.3251A>G (p.Lys1084Arg) | |
| 14 | g.23392912T>G | CA389007504 | MYH6 | c.3251A>C (p.Lys1084Thr) | |
| 14 | g.23392913T>A | CA389007510 | MYH6 | c.3250A>T (p.Lys1084Ter) | |
| 14 | g.23392913T>C | CA389007512 | MYH6 | c.3250A>G (p.Lys1084Glu) | |
| 14 | g.23392913T>G | CA389007514 | MYH6 | c.3250A>C (p.Lys1084Gln) | |
| 14 | g.23392914C>A | CA389007516 | MYH6 | c.3249G>T (p.Lys1083Asn) | |
| 14 | g.23392914C>G | CA389007518 | MYH6 | c.3249G>C (p.Lys1083Asn) | |
| 14 | g.23392914C>T | CA485609802 | MYH6 | c.3249G>A (p.Lys1083=) | |
| 14 | g.23392915T>A | CA389007520 | MYH6 | c.3248A>T (p.Lys1083Met) | |
| 14 | g.23392915T>C | CA389007523 | MYH6 | c.3248A>G (p.Lys1083Arg) | gnomAD v4 |
| 14 | g.23392915T>G | CA389007524 | MYH6 | c.3248A>C (p.Lys1083Thr) | |
| 14 | g.23392916T>A | CA389007527 | MYH6 | c.3247A>T (p.Lys1083Ter) | |
| 14 | g.23392916T>C | CA389007528 | MYH6 | c.3247A>G (p.Lys1083Glu) | |
| 14 | g.23392916T>G | CA389007530 | MYH6 | c.3247A>C (p.Lys1083Gln) | |
| 14 | g.23392917A= | CA2123413488 | MYH6 | c.3246T= (p.Leu1082=) | |
| 14 | g.23392917A>C | CA485609805 | MYH6 | c.3246T>G (p.Leu1082=) | |
| 14 | g.23392917A>G | CA485609804 | MYH6 | c.3246T>C (p.Leu1082=) | dbSNP |
| 14 | g.23392917A>T | CA485609803 | MYH6 | c.3246T>A (p.Leu1082=) | |
| 14 | g.23392918A>C | CA389007533 | MYH6 | c.3245T>G (p.Leu1082Arg) | |
| 14 | g.23392918A>G | CA389007535 | MYH6 | c.3245T>C (p.Leu1082Pro) | |
| 14 | g.23392918A>T | CA389007537 | MYH6 | c.3245T>A (p.Leu1082His) | |
| 14 | g.23392919G>A | CA389007543 | MYH6 | c.3244C>T (p.Leu1082Phe) | ClinVar gnomAD v4 |
| 14 | g.23392919G>C | CA389007541 | MYH6 | c.3244C>G (p.Leu1082Val) | |
| 14 | g.23392919G>T | CA389007539 | MYH6 | c.3244C>A (p.Leu1082Ile) | |
| 14 | g.23392920C>A | CA389007545 | MYH6 | c.3243G>T (p.Lys1081Asn) | ClinVar dbSNP |
| 14 | g.23392920C= | CA2123413489 | MYH6 | c.3243G= (p.Lys1081=) | |
| 14 | g.23392920C>G | CA389007547 | MYH6 | c.3243G>C (p.Lys1081Asn) | |
| 14 | g.23392920C>T | CA485609806 | MYH6 | c.3243G>A (p.Lys1081=) | gnomAD v4 |
| 14 | g.23392921T>A | CA389007549 | MYH6 | c.3242A>T (p.Lys1081Met) | |
| 14 | g.23392921T>C | CA389007552 | MYH6 | c.3242A>G (p.Lys1081Arg) | |
| 14 | g.23392921T>G | CA389007554 | MYH6 | c.3242A>C (p.Lys1081Thr) | |
| 14 | g.23392922T>A | CA389007556 | MYH6 | c.3241A>T (p.Lys1081Ter) | |
| 14 | g.23392922T>C | CA389007558 | MYH6 | c.3241A>G (p.Lys1081Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23392922T>G | CA389007559 | MYH6 | c.3241A>C (p.Lys1081Gln) | |
| 14 | g.23392922T= | CA2123413490 | MYH6 | c.3241A= (p.Lys1081=) | |
| 14 | g.23392923T>A | CA389008830 | MYH6 | c.3240A>T (p.Glu1080Asp) | |
| 14 | g.23392923T>C | CA485764900 | MYH6 | c.3240A>G (p.Glu1080=) | |
| 14 | g.23392923T>G | CA389008834 | MYH6 | c.3240A>C (p.Glu1080Asp) | |
| 14 | g.23392924T>A | CA389008840 | MYH6 | c.3239A>T (p.Glu1080Val) | |
| 14 | g.23392924T>C | CA389008841 | MYH6 | c.3239A>G (p.Glu1080Gly) | |
| 14 | g.23392924T>G | CA389008844 | MYH6 | c.3239A>C (p.Glu1080Ala) | |
| 14 | g.23392925C>A | CA389008856 | MYH6 | c.3238G>T (p.Glu1080Ter) | |
| 14 | g.23392925C>G | CA389008850 | MYH6 | c.3238G>C (p.Glu1080Gln) | |
| 14 | g.23392925C>T | CA389008853 | MYH6 | c.3238G>A (p.Glu1080Lys) | |
| 14 | g.23392926T>A | CA389008860 | MYH6 | c.3237A>T (p.Glu1079Asp) | |
| 14 | g.23392926T>C | CA485764902 | MYH6 | c.3237A>G (p.Glu1079=) | dbSNP |
| 14 | g.23392926T>G | CA389008863 | MYH6 | c.3237A>C (p.Glu1079Asp) | |
| 14 | g.23392926T= | CA2123413491 | MYH6 | c.3237A= (p.Glu1079=) | |
| 14 | g.23392927T>A | CA389008867 | MYH6 | c.3236A>T (p.Glu1079Val) | |
| 14 | g.23392927T>C | CA389008870 | MYH6 | c.3236A>G (p.Glu1079Gly) | |
| 14 | g.23392927T>G | CA389008876 | MYH6 | c.3236A>C (p.Glu1079Ala) | |
| 14 | g.23392928C>A | CA389008879 | MYH6 | c.3235G>T (p.Glu1079Ter) | |
| 14 | g.23392928C= | CA2123413492 | MYH6 | c.3235G= (p.Glu1079=) | |
| 14 | g.23392928C>G | CA7115272 | MYH6 | c.3235G>C (p.Glu1079Gln) | dbSNP ExAC gnomAD v2 |
| 14 | g.23392928C>T | CA389008885 | MYH6 | c.3235G>A (p.Glu1079Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392929C>A | CA485764903 | MYH6 | c.3234G>T (p.Leu1078=) | COSMIC |
| 14 | g.23392929C= | CA2123413493 | MYH6 | c.3234G= (p.Leu1078=) | |
| 14 | g.23392929C>G | CA485764904 | MYH6 | c.3234G>C (p.Leu1078=) | |
| 14 | g.23392929C>T | CA7115273 | MYH6 | c.3234G>A (p.Leu1078=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392930A>C | CA389008892 | MYH6 | c.3233T>G (p.Leu1078Arg) | |
| 14 | g.23392930A>G | CA389008896 | MYH6 | c.3233T>C (p.Leu1078Pro) | |
| 14 | g.23392930A>T | CA389008899 | MYH6 | c.3233T>A (p.Leu1078Gln) | |
| 14 | g.23392931G>A | CA7115274 | MYH6 | c.3232C>T (p.Leu1078=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23392931G>C | CA389008902 | MYH6 | c.3232C>G (p.Leu1078Val) | |
| 14 | g.23392931G= | CA2123413494 | MYH6 | c.3232C= (p.Leu1078=) | |
| 14 | g.23392931G>T | CA389008901 | MYH6 | c.3232C>A (p.Leu1078Met) | gnomAD v4 |
| 14 | g.23392932C>A | CA389008904 | MYH6 | c.3231G>T (p.Gln1077His) | |
| 14 | g.23392932C>G | CA389008906 | MYH6 | c.3231G>C (p.Gln1077His) | |
| 14 | g.23392932C>T | CA485764908 | MYH6 | c.3231G>A (p.Gln1077=) | COSMIC |
| 14 | g.23392933T>A | CA7115275 | MYH6 | c.3230A>T (p.Gln1077Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392933T>C | CA389008913 | MYH6 | c.3230A>G (p.Gln1077Arg) | ClinVar dbSNP |
| 14 | g.23392933T>G | CA389008915 | MYH6 | c.3230A>C (p.Gln1077Pro) | |
| 14 | g.23392933T= | CA2123413495 | MYH6 | c.3230A= (p.Gln1077=) | |
| 14 | g.23392934G>A | CA7115276 | MYH6 | c.3229C>T (p.Gln1077Ter) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.23392934G>C | CA389008920 | MYH6 | c.3229C>G (p.Gln1077Glu) | COSMIC |
| 14 | g.23392934G= | CA2123413496 | MYH6 | c.3229C= (p.Gln1077=) | |
| 14 | g.23392934G>T | CA389008924 | MYH6 | c.3229C>A (p.Gln1077Lys) | |
| 14 | g.23392935C>A | CA485764911 | MYH6 | c.3228G>T (p.Leu1076=) | |
| 14 | g.23392935C= | CA2123413497 | MYH6 | c.3228G= (p.Leu1076=) | |
| 14 | g.23392935C>G | CA485764912 | MYH6 | c.3228G>C (p.Leu1076=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23392935C>T | CA485764913 | MYH6 | c.3228G>A (p.Leu1076=) | |
| 14 | g.23392936A>C | CA389008927 | MYH6 | c.3227T>G (p.Leu1076Arg) | |
| 14 | g.23392936A>G | CA389008931 | MYH6 | c.3227T>C (p.Leu1076Pro) | |
| 14 | g.23392936A>T | CA389008934 | MYH6 | c.3227T>A (p.Leu1076Gln) | |
| 14 | g.23392937G>A | CA485764915 | MYH6 | c.3226C>T (p.Leu1076=) | |
| 14 | g.23392937G>C | CA389008937 | MYH6 | c.3226C>G (p.Leu1076Val) | |
| 14 | g.23392937G= | CA2123413498 | MYH6 | c.3226C= (p.Leu1076=) | |
| 14 | g.23392937G>T | CA389008940 | MYH6 | c.3226C>A (p.Leu1076Met) | dbSNP |
| 14 | g.23392938T>A | CA389008944 | MYH6 | c.3225A>T (p.Lys1075Asn) | |
| 14 | g.23392938T>C | CA485764916 | MYH6 | c.3225A>G (p.Lys1075=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23392938T>G | CA389008949 | MYH6 | c.3225A>C (p.Lys1075Asn) | |
| 14 | g.23392938T= | CA2123413499 | MYH6 | c.3225A= (p.Lys1075=) | |
| 14 | g.23392939T>A | CA389008954 | MYH6 | c.3224A>T (p.Lys1075Ile) | |
| 14 | g.23392939T>C | CA389008959 | MYH6 | c.3224A>G (p.Lys1075Arg) | |
| 14 | g.23392939T>G | CA389008956 | MYH6 | c.3224A>C (p.Lys1075Thr) | |
| 14 | g.23392940T>A | CA389008965 | MYH6 | c.3223A>T (p.Lys1075Ter) | |
| 14 | g.23392940T>C | CA389008968 | MYH6 | c.3223A>G (p.Lys1075Glu) | |
| 14 | g.23392940T>G | CA389008970 | MYH6 | c.3223A>C (p.Lys1075Gln) | |
| 14 | g.23392941A= | CA2123413500 | MYH6 | c.3222T= (p.Asp1074=) | |
| 14 | g.23392941A>C | CA389008974 | MYH6 | c.3222T>G (p.Asp1074Glu) | |
| 14 | g.23392941A>G | CA485764922 | MYH6 | c.3222T>C (p.Asp1074=) | dbSNP |
| 14 | g.23392941A>T | CA389008992 | MYH6 | c.3222T>A (p.Asp1074Glu) | |
| 14 | g.23392942T>A | CA389008997 | MYH6 | c.3221A>T (p.Asp1074Val) | |
| 14 | g.23392942T>C | CA389008999 | MYH6 | c.3221A>G (p.Asp1074Gly) | |
| 14 | g.23392942T>G | CA389009001 | MYH6 | c.3221A>C (p.Asp1074Ala) | |
| 14 | g.23392943C>A | CA7115277 | MYH6 | c.3220G>T (p.Asp1074Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23392943C= | CA2123413501 | MYH6 | c.3220G= (p.Asp1074=) | |
| 14 | g.23392943C>G | CA389009009 | MYH6 | c.3220G>C (p.Asp1074His) | |
| 14 | g.23392943C>T | CA183532 | MYH6 | c.3220G>A (p.Asp1074Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23392944A= | CA2123413502 | MYH6 | c.3219T= (p.Asn1073=) | |
| 14 | g.23392944A>C | CA389009019 | MYH6 | c.3219T>G (p.Asn1073Lys) | |
| 14 | g.23392944A>G | CA485764926 | MYH6 | c.3219T>C (p.Asn1073=) | dbSNP |
| 14 | g.23392944A>T | CA389009022 | MYH6 | c.3219T>A (p.Asn1073Lys) | |
| 14 | g.23392945T>A | CA389009031 | MYH6 | c.3218A>T (p.Asn1073Ile) | |
| 14 | g.23392945T>C | CA389009036 | MYH6 | c.3218A>G (p.Asn1073Ser) | |
| 14 | g.23392945T>G | CA389009040 | MYH6 | c.3218A>C (p.Asn1073Thr) | |
| 14 | g.23392946T>A | CA389009045 | MYH6 | c.3217A>T (p.Asn1073Tyr) | |
| 14 | g.23392946T>C | CA389009047 | MYH6 | c.3217A>G (p.Asn1073Asp) | |
| 14 | g.23392946T>G | CA389009053 | MYH6 | c.3217A>C (p.Asn1073His) | |
| 14 | g.23392947T>A | CA389009056 | MYH6 | c.3216A>T (p.Glu1072Asp) | |
| 14 | g.23392947T>C | CA485764929 | MYH6 | c.3216A>G (p.Glu1072=) | dbSNP |
| 14 | g.23392947T>G | CA389009055 | MYH6 | c.3216A>C (p.Glu1072Asp) | |
| 14 | g.23392947T= | CA2123413503 | MYH6 | c.3216A= (p.Glu1072=) | |
| 14 | g.23392948T>A | CA389009059 | MYH6 | c.3215A>T (p.Glu1072Val) | |
| 14 | g.23392948T>C | CA389009062 | MYH6 | c.3215A>G (p.Glu1072Gly) | |
| 14 | g.23392948T>G | CA389009065 | MYH6 | c.3215A>C (p.Glu1072Ala) | |
| 14 | g.23392949C>A | CA389009068 | MYH6 | c.3214G>T (p.Glu1072Ter) | |
| 14 | g.23392949C= | CA2123413504 | MYH6 | c.3214G= (p.Glu1072=) | |
| 14 | g.23392949C>G | CA389009071 | MYH6 | c.3214G>C (p.Glu1072Gln) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23392949C>T | CA389009073 | MYH6 | c.3214G>A (p.Glu1072Lys) | |
| 14 | g.23392950C>A | CA485764931 | MYH6 | c.3213G>T (p.Leu1071=) | |
| 14 | g.23392950C= | CA2123413505 | MYH6 | c.3213G= (p.Leu1071=) | |
| 14 | g.23392950C>G | CA485764934 | MYH6 | c.3213G>C (p.Leu1071=) | |
| 14 | g.23392950C>T | CA485764932 | MYH6 | c.3213G>A (p.Leu1071=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23392951A>C | CA389009077 | MYH6 | c.3212T>G (p.Leu1071Arg) | |
| 14 | g.23392951A>G | CA389009084 | MYH6 | c.3212T>C (p.Leu1071Pro) | |
| 14 | g.23392951A>T | CA389009081 | MYH6 | c.3212T>A (p.Leu1071Gln) | |
| 14 | g.23392952G>A | CA485764935 | MYH6 | c.3211C>T (p.Leu1071=) | ClinVar dbSNP |
| 14 | g.23392952G>C | CA389009087 | MYH6 | c.3211C>G (p.Leu1071Val) | gnomAD v4 |
| 14 | g.23392952G>T | CA389009088 | MYH6 | c.3211C>A (p.Leu1071Met) | |
| 14 | g.23392953G>A | CA485764936 | MYH6 | c.3210C>T (p.Asp1070=) | |
| 14 | g.23392953G>C | CA389009089 | MYH6 | c.3210C>G (p.Asp1070Glu) | |
| 14 | g.23392953G>T | CA389009091 | MYH6 | c.3210C>A (p.Asp1070Glu) | |
| 14 | g.23392954T>A | CA389009096 | MYH6 | c.3209A>T (p.Asp1070Val) | |
| 14 | g.23392954T>C | CA389009098 | MYH6 | c.3209A>G (p.Asp1070Gly) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23392954T>G | CA389009101 | MYH6 | c.3209A>C (p.Asp1070Ala) | |
| 14 | g.23392955C>A | CA389009105 | MYH6 | c.3208G>T (p.Asp1070Tyr) | |
| 14 | g.23392955C>G | CA389009107 | MYH6 | c.3208G>C (p.Asp1070His) | |
| 14 | g.23392955C>T | CA389009108 | MYH6 | c.3208G>A (p.Asp1070Asn) | COSMIC |
| 14 | g.23392956C>A | CA389009115 | MYH6 | c.3207G>T (p.Met1069Ile) | |
| 14 | g.23392956C>G | CA389009112 | MYH6 | c.3207G>C (p.Met1069Ile) | |
| 14 | g.23392956C>T | CA389009110 | MYH6 | c.3207G>A (p.Met1069Ile) | |
| 14 | g.23392957A>C | CA389009119 | MYH6 | c.3206T>G (p.Met1069Arg) | |
| 14 | g.23392957A>G | CA389009125 | MYH6 | c.3206T>C (p.Met1069Thr) | ClinVar gnomAD v4 |
| 14 | g.23392957A>T | CA389009122 | MYH6 | c.3206T>A (p.Met1069Lys) | ClinVar dbSNP |
| 14 | g.23392958T>A | CA389009129 | MYH6 | c.3205A>T (p.Met1069Leu) | |
| 14 | g.23392958T>C | CA389009133 | MYH6 | c.3205A>G (p.Met1069Val) | |
| 14 | g.23392958T>G | CA389009138 | MYH6 | c.3205A>C (p.Met1069Leu) | |
| 14 | g.23392959G>A | CA485764944 | MYH6 | c.3204C>T (p.Ile1068=) | gnomAD v4 |
| 14 | g.23392959G>C | CA389009142 | MYH6 | c.3204C>G (p.Ile1068Met) | |
| 14 | g.23392959G>T | CA485764943 | MYH6 | c.3204C>A (p.Ile1068=) | gnomAD v4 |
| 14 | g.23392960A= | CA2123413506 | MYH6 | c.3203T= (p.Ile1068=) | |
| 14 | g.23392960A>C | CA389009146 | MYH6 | c.3203T>G (p.Ile1068Ser) | |
| 14 | g.23392960A>G | CA7115278 | MYH6 | c.3203T>C (p.Ile1068Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23392960A>T | CA389009168 | MYH6 | c.3203T>A (p.Ile1068Asn) | |
| 14 | g.23392961T>A | CA389009172 | MYH6 | c.3202A>T (p.Ile1068Phe) | |
| 14 | g.23392961T>C | CA389009174 | MYH6 | c.3202A>G (p.Ile1068Val) | |
| 14 | g.23392961T>G | CA389009176 | MYH6 | c.3202A>C (p.Ile1068Leu) | gnomAD v4 |
| 14 | g.23392962G>A | CA485764948 | MYH6 | c.3201C>T (p.Ser1067=) | |
| 14 | g.23392962G>C | CA389009179 | MYH6 | c.3201C>G (p.Ser1067Arg) | |
| 14 | g.23392962G= | CA2123413507 | MYH6 | c.3201C= (p.Ser1067=) | |
| 14 | g.23392962G>T | CA389009182 | MYH6 | c.3201C>A (p.Ser1067Arg) | dbSNP gnomAD v4 |
| 14 | g.23392963C>A | CA389009191 | MYH6 | c.3200G>T (p.Ser1067Ile) | |
| 14 | g.23392963C= | CA2123413508 | MYH6 | c.3200G= (p.Ser1067=) | |
| 14 | g.23392963C>G | CA389009188 | MYH6 | c.3200G>C (p.Ser1067Thr) | |
| 14 | g.23392963C>T | CA257786314 | MYH6 | c.3200G>A (p.Ser1067Asn) | dbSNP |
| 14 | g.23392964T>A | CA389009194 | MYH6 | c.3199A>T (p.Ser1067Cys) | |
| 14 | g.23392964T>C | CA134313 | MYH6 | c.3199A>G (p.Ser1067Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392964T>G | CA389009200 | MYH6 | c.3199A>C (p.Ser1067Arg) | |
| 14 | g.23392964T= | CA2123413509 | MYH6 | c.3199A= (p.Ser1067=) | |
| 14 | g.23392965C>A | CA389009202 | MYH6 | c.3198G>T (p.Glu1066Asp) | COSMIC |
| 14 | g.23392965C= | CA2123413510 | MYH6 | c.3198G= (p.Glu1066=) | |
| 14 | g.23392965C>G | CA389009204 | MYH6 | c.3198G>C (p.Glu1066Asp) | |
| 14 | g.23392965C>T | CA485764951 | MYH6 | c.3198G>A (p.Glu1066=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23392966T>A | CA389009207 | MYH6 | c.3197A>T (p.Glu1066Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392966T>C | CA389009210 | MYH6 | c.3197A>G (p.Glu1066Gly) | |
| 14 | g.23392966T>G | CA389009213 | MYH6 | c.3197A>C (p.Glu1066Ala) | |
| 14 | g.23392966T= | CA2123413511 | MYH6 | c.3197A= (p.Glu1066=) | |
| 14 | g.23392967C>A | CA389009215 | MYH6 | c.3196G>T (p.Glu1066Ter) | |
| 14 | g.23392967C= | CA2123413512 | MYH6 | c.3196G= (p.Glu1066=) | |
| 14 | g.23392967C>G | CA389009216 | MYH6 | c.3196G>C (p.Glu1066Gln) | ClinVar |
| 14 | g.23392967C>T | CA7115279 | MYH6 | c.3196G>A (p.Glu1066Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23392968C>A | CA389009220 | MYH6 | c.3195G>T (p.Gln1065His) | |
| 14 | g.23392968C= | CA2123413513 | MYH6 | c.3195G= (p.Gln1065=) | |
| 14 | g.23392968C>G | CA123768 | MYH6 | c.3195G>C (p.Gln1065His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392968C>T | CA485764952 | MYH6 | c.3195G>A (p.Gln1065=) | |
| 14 | g.23392969T>A | CA389009224 | MYH6 | c.3194A>T (p.Gln1065Leu) | |
| 14 | g.23392969T>C | CA389009226 | MYH6 | c.3194A>G (p.Gln1065Arg) | |
| 14 | g.23392969T>G | CA389009222 | MYH6 | c.3194A>C (p.Gln1065Pro) | |
| 14 | g.23392969T= | CA2123413514 | MYH6 | c.3194A= (p.Gln1065=) | |
| 14 | g.23392970G>A | CA389009232 | MYH6 | c.3193C>T (p.Gln1065Ter) | |
| 14 | g.23392970G>C | CA389009233 | MYH6 | c.3193C>G (p.Gln1065Glu) | COSMIC |
| 14 | g.23392970G>T | CA389009236 | MYH6 | c.3193C>A (p.Gln1065Lys) | |
| 14 | g.23392972dup | CA279617 | MYH6 | c.3193dup (p.Gln1065ProfsTer10) | ClinVar dbSNP |
| 14 | g.23392971G>A | CA485764956 | MYH6 | c.3192C>T (p.Thr1064=) | |
| 14 | g.23392971G>C | CA485764958 | MYH6 | c.3192C>G (p.Thr1064=) | |
| 14 | g.23392971G>T | CA485764957 | MYH6 | c.3192C>A (p.Thr1064=) | |
| 14 | g.23392972G>A | CA7115280 | MYH6 | c.3191C>T (p.Thr1064Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23392972G>C | CA389009242 | MYH6 | c.3191C>G (p.Thr1064Ser) | |
| 14 | g.23392972G= | CA2123413515 | MYH6 | c.3191C= (p.Thr1064=) | |
| 14 | g.23392972G>T | CA389009244 | MYH6 | c.3191C>A (p.Thr1064Asn) | |
| 14 | g.23392973T>A | CA389009250 | MYH6 | c.3190A>T (p.Thr1064Ser) | |
| 14 | g.23392973T>C | CA389009252 | MYH6 | c.3190A>G (p.Thr1064Ala) | |
| 14 | g.23392973T>G | CA389009256 | MYH6 | c.3190A>C (p.Thr1064Pro) | |
| 14 | g.23392974C>A | CA485764959 | MYH6 | c.3189G>T (p.Leu1063=) | |
| 14 | g.23392974C= | CA2123413516 | MYH6 | c.3189G= (p.Leu1063=) | |
| 14 | g.23392974C>G | CA7115281 | MYH6 | c.3189G>C (p.Leu1063=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23392974C>T | CA485764960 | MYH6 | c.3189G>A (p.Leu1063=) | |
| 14 | g.23392975A>C | CA389009264 | MYH6 | c.3188T>G (p.Leu1063Arg) | |
| 14 | g.23392975A>G | CA389009267 | MYH6 | c.3188T>C (p.Leu1063Pro) | |
| 14 | g.23392975A>T | CA389009271 | MYH6 | c.3188T>A (p.Leu1063Gln) | |
| 14 | g.23392976G>A | CA485764962 | MYH6 | c.3187C>T (p.Leu1063=) | |
| 14 | g.23392976G>C | CA389009280 | MYH6 | c.3187C>G (p.Leu1063Val) | |
| 14 | g.23392976G>T | CA389009283 | MYH6 | c.3187C>A (p.Leu1063Met) | |
| 14 | g.23392977C>A | CA389009286 | MYH6 | c.3186G>T (p.Lys1062Asn) | |
| 14 | g.23392977C>G | CA389009287 | MYH6 | c.3186G>C (p.Lys1062Asn) | |
| 14 | g.23392977C>T | CA485764963 | MYH6 | c.3186G>A (p.Lys1062=) | |
| 14 | g.23392978T>A | CA389009290 | MYH6 | c.3185A>T (p.Lys1062Met) | gnomAD v4 |
| 14 | g.23392978T>C | CA389009291 | MYH6 | c.3185A>G (p.Lys1062Arg) | |
| 14 | g.23392978T>G | CA389009292 | MYH6 | c.3185A>C (p.Lys1062Thr) | gnomAD v4 |
| 14 | g.23392979T>A | CA389009293 | MYH6 | c.3184A>T (p.Lys1062Ter) | |
| 14 | g.23392979T>C | CA389009296 | MYH6 | c.3184A>G (p.Lys1062Glu) | |
| 14 | g.23392979T>G | CA389009302 | MYH6 | c.3184A>C (p.Lys1062Gln) | dbSNP |
| 14 | g.23392979T= | CA2123413517 | MYH6 | c.3184A= (p.Lys1062=) | |
| 14 | g.23392980C>A | CA485764974 | MYH6 | c.3183G>T (p.Leu1061=) | |
| 14 | g.23392980C>G | CA485764969 | MYH6 | c.3183G>C (p.Leu1061=) | |
| 14 | g.23392980C>T | CA485764972 | MYH6 | c.3183G>A (p.Leu1061=) | |
| 14 | g.23392981A>C | CA389009304 | MYH6 | c.3182T>G (p.Leu1061Arg) | |
| 14 | g.23392981A>G | CA389009306 | MYH6 | c.3182T>C (p.Leu1061Pro) | |
| 14 | g.23392981A>T | CA389009327 | MYH6 | c.3182T>A (p.Leu1061Gln) | |
| 14 | g.23392982G>A | CA485764978 | MYH6 | c.3181C>T (p.Leu1061=) | |
| 14 | g.23392982G>C | CA389009334 | MYH6 | c.3181C>G (p.Leu1061Val) | |
| 14 | g.23392982G= | CA2123413518 | MYH6 | c.3181C= (p.Leu1061=) | |
| 14 | g.23392982G>T | CA176952 | MYH6 | c.3181C>A (p.Leu1061Met) | ClinVar dbSNP |
| 14 | g.23392983G>A | CA7115282 | MYH6 | c.3180C>T (p.Asp1060=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392983G>C | CA389009350 | MYH6 | c.3180C>G (p.Asp1060Glu) | |
| 14 | g.23392983G= | CA2123413519 | MYH6 | c.3180C= (p.Asp1060=) | |
| 14 | g.23392983G>T | CA389009347 | MYH6 | c.3180C>A (p.Asp1060Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23392984T>A | CA389009356 | MYH6 | c.3179A>T (p.Asp1060Val) | |
| 14 | g.23392984T>C | CA389009360 | MYH6 | c.3179A>G (p.Asp1060Gly) | |
| 14 | g.23392984T>G | CA389009363 | MYH6 | c.3179A>C (p.Asp1060Ala) | |
| 14 | g.23392985C>A | CA389009367 | MYH6 | c.3178G>T (p.Asp1060Tyr) | |
| 14 | g.23392985C= | CA2123413520 | MYH6 | c.3178G= (p.Asp1060=) | |
| 14 | g.23392985C>G | CA389009368 | MYH6 | c.3178G>C (p.Asp1060His) | |
| 14 | g.23392985C>T | CA7115283 | MYH6 | c.3178G>A (p.Asp1060Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23392986G>A | CA7115284 | MYH6 | c.3177C>T (p.Gly1059=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392986G>C | CA7115285 | MYH6 | c.3177C>G (p.Gly1059=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392986G= | CA2123413521 | MYH6 | c.3177C= (p.Gly1059=) | |
| 14 | g.23392986G>T | CA485764987 | MYH6 | c.3177C>A (p.Gly1059=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23392987C>A | CA389009387 | MYH6 | c.3176G>T (p.Gly1059Val) | gnomAD v4 |
| 14 | g.23392987C= | CA2123413522 | MYH6 | c.3176G= (p.Gly1059=) | |
| 14 | g.23392987C>G | CA389009391 | MYH6 | c.3176G>C (p.Gly1059Ala) | |
| 14 | g.23392987C>T | CA257786348 | MYH6 | c.3176G>A (p.Gly1059Asp) | dbSNP gnomAD v4 |
| 14 | g.23392988C>A | CA389009403 | MYH6 | c.3175G>T (p.Gly1059Cys) | |
| 14 | g.23392988C= | CA2123413523 | MYH6 | c.3175G= (p.Gly1059=) | |
| 14 | g.23392988C>G | CA389009398 | MYH6 | c.3175G>C (p.Gly1059Arg) | |
| 14 | g.23392988C>T | CA389009395 | MYH6 | c.3175G>A (p.Gly1059Ser) | ClinVar dbSNP |
| 14 | g.23392989C>A | CA389009412 | MYH6 | c.3174G>T (p.Glu1058Asp) | |
| 14 | g.23392989C= | CA2123413524 | MYH6 | c.3174G= (p.Glu1058=) | |
| 14 | g.23392989C>G | CA389009415 | MYH6 | c.3174G>C (p.Glu1058Asp) | |
| 14 | g.23392989C>T | CA7115286 | MYH6 | c.3174G>A (p.Glu1058=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23392990T>A | CA389009423 | MYH6 | c.3173A>T (p.Glu1058Val) | |
| 14 | g.23392990T>C | CA389009425 | MYH6 | c.3173A>G (p.Glu1058Gly) | dbSNP |
| 14 | g.23392990T>G | CA389009427 | MYH6 | c.3173A>C (p.Glu1058Ala) | |
| 14 | g.23392990T= | CA2123413525 | MYH6 | c.3173A= (p.Glu1058=) |