17 | g.63945469_63945471del | CA8709223 | SCN4A | c.3615_3617del (p.Asn1205del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945470T>A | CA400617918 | SCN4A | c.3610A>T (p.Asn1204Tyr)
| |
17 | g.63945470T>C | CA400617919 | SCN4A | c.3610A>G (p.Asn1204Asp)
| |
17 | g.63945470T>G | CA400617920 | SCN4A | c.3610A>C (p.Asn1204His)
| |
17 | g.63945471G>A | CA501348652 | SCN4A | c.3609C>T (p.Val1203=)
| ClinVar |
17 | g.63945471G>C | CA501348653 | SCN4A | c.3609C>G (p.Val1203=)
| |
17 | g.63945471G>T | CA501348651 | SCN4A | c.3609C>A (p.Val1203=)
| |
17 | g.63945472A= | CA2270162618 | SCN4A | c.3608T= (p.Val1203=)
| |
17 | g.63945472A>C | CA400617921 | SCN4A | c.3608T>G (p.Val1203Gly)
| gnomAD v4 |
17 | g.63945472A>G | CA292961654 | SCN4A | c.3608T>C (p.Val1203Ala)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945472A>T | CA400617922 | SCN4A | c.3608T>A (p.Val1203Asp)
| gnomAD v4 COSMIC |
17 | g.63945472_63945473delinsAC | CA2270162619 | SCN4A | c.3607_3608delinsGT (p.Val1203=)
| |
17 | g.63945473C>A | CA400617923 | SCN4A | c.3607G>T (p.Val1203Phe)
| |
17 | g.63945473C>G | CA400617924 | SCN4A | c.3607G>C (p.Val1203Leu)
| |
17 | g.63945473C>T | CA400617925 | SCN4A | c.3607G>A (p.Val1203Ile)
| |
17 | g.63945474del | CA627150332 | SCN4A | c.3607del (p.Val1203SerfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945474C>A | CA400617926 | SCN4A | c.3606G>T (p.Glu1202Asp)
| |
17 | g.63945474C>G | CA400617927 | SCN4A | c.3606G>C (p.Glu1202Asp)
| |
17 | g.63945474C>T | CA501348654 | SCN4A | c.3606G>A (p.Glu1202=)
| gnomAD v4 |
17 | g.63945475T>A | CA400617928 | SCN4A | c.3605A>T (p.Glu1202Val)
| |
17 | g.63945475T>C | CA400617929 | SCN4A | c.3605A>G (p.Glu1202Gly)
| |
17 | g.63945475T>G | CA400617930 | SCN4A | c.3605A>C (p.Glu1202Ala)
| |
17 | g.63945476C>A | CA400617931 | SCN4A | c.3604G>T (p.Glu1202Ter)
| dbSNP gnomAD v4 |
17 | g.63945476C= | CA2270162624 | SCN4A | c.3604G= (p.Glu1202=)
| |
17 | g.63945476C>G | CA400617932 | SCN4A | c.3604G>C (p.Glu1202Gln)
| gnomAD v4 |
17 | g.63945476C>T | CA155075 | SCN4A | c.3604G>A (p.Glu1202Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945477G>A | CA8709226 | SCN4A | c.3603C>T (p.Ser1201=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945477G>C | CA501348655 | SCN4A | c.3603C>G (p.Ser1201=)
| gnomAD v4 |
17 | g.63945477G= | CA2270162626 | SCN4A | c.3603C= (p.Ser1201=)
| |
17 | g.63945477G>T | CA8709225 | SCN4A | c.3603C>A (p.Ser1201=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945478_63945480del | CA2639312067 | SCN4A | c.3601_3603del (p.Ser1201del)
| gnomAD v4 |
17 | g.63945478G>A | CA400617933 | SCN4A | c.3602C>T (p.Ser1201Phe)
| |
17 | g.63945478G>C | CA400617934 | SCN4A | c.3602C>G (p.Ser1201Cys)
| |
17 | g.63945478G>T | CA400617935 | SCN4A | c.3602C>A (p.Ser1201Tyr)
| |
17 | g.63945479A>C | CA400617936 | SCN4A | c.3601T>G (p.Ser1201Ala)
| gnomAD v4 |
17 | g.63945479A>G | CA400617937 | SCN4A | c.3601T>C (p.Ser1201Pro)
| |
17 | g.63945479A>T | CA400617938 | SCN4A | c.3601T>A (p.Ser1201Thr)
| |
17 | g.63945480G>A | CA501348656 | SCN4A | c.3600C>T (p.Ile1200=)
| |
17 | g.63945480G>C | CA400617939 | SCN4A | c.3600C>G (p.Ile1200Met)
| dbSNP gnomAD v4 COSMIC |
17 | g.63945480G= | CA2270162629 | SCN4A | c.3600C= (p.Ile1200=)
| |
17 | g.63945480G>T | CA501348657 | SCN4A | c.3600C>A (p.Ile1200=)
| |
17 | g.63945481A>C | CA400617940 | SCN4A | c.3599T>G (p.Ile1200Ser)
| |
17 | g.63945481A>G | CA400617941 | SCN4A | c.3599T>C (p.Ile1200Thr)
| |
17 | g.63945481A>T | CA400617942 | SCN4A | c.3599T>A (p.Ile1200Asn)
| gnomAD v4 |
17 | g.63945482T>A | CA400617943 | SCN4A | c.3598A>T (p.Ile1200Phe)
| |
17 | g.63945482T>C | CA292961666 | SCN4A | c.3598A>G (p.Ile1200Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945482T>G | CA400617944 | SCN4A | c.3598A>C (p.Ile1200Leu)
| |
17 | g.63945482T= | CA2270162631 | SCN4A | c.3598A= (p.Ile1200=)
| |
17 | g.63945483G>A | CA501348660 | SCN4A | c.3597C>T (p.Asp1199=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945483G>C | CA400617945 | SCN4A | c.3597C>G (p.Asp1199Glu)
| |
17 | g.63945483G= | CA2270162632 | SCN4A | c.3597C= (p.Asp1199=)
| |
17 | g.63945483G>T | CA400617946 | SCN4A | c.3597C>A (p.Asp1199Glu)
| |
17 | g.63945484T>A | CA400617947 | SCN4A | c.3596A>T (p.Asp1199Val)
| |
17 | g.63945484T>C | CA400617948 | SCN4A | c.3596A>G (p.Asp1199Gly)
| |
17 | g.63945484T>G | CA400617949 | SCN4A | c.3596A>C (p.Asp1199Ala)
| |
17 | g.63945485C>A | CA400617950 | SCN4A | c.3595G>T (p.Asp1199Tyr)
| |
17 | g.63945485C= | CA2270162635 | SCN4A | c.3595G= (p.Asp1199=)
| |
17 | g.63945485C>G | CA400617951 | SCN4A | c.3595G>C (p.Asp1199His)
| dbSNP gnomAD v4 |
17 | g.63945485C>T | CA8709227 | SCN4A | c.3595G>A (p.Asp1199Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945486G>A | CA292961673 | SCN4A | c.3594C>T (p.Phe1198=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945486G>C | CA8709228 | SCN4A | c.3594C>G (p.Phe1198Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945486G= | CA2270162637 | SCN4A | c.3594C= (p.Phe1198=)
| |
17 | g.63945486G>T | CA400617952 | SCN4A | c.3594C>A (p.Phe1198Leu)
| |
17 | g.63945487A>C | CA400617953 | SCN4A | c.3593T>G (p.Phe1198Cys)
| |
17 | g.63945487A>G | CA400617955 | SCN4A | c.3593T>C (p.Phe1198Ser)
| |
17 | g.63945487A>T | CA400617954 | SCN4A | c.3593T>A (p.Phe1198Tyr)
| |
17 | g.63945488dup | CA2576355621 | SCN4A | c.3593dup (p.Asp1199ArgfsTer10)
| gnomAD v4 |
17 | g.63945488A= | CA2270162639 | SCN4A | c.3592T= (p.Phe1198=)
| |
17 | g.63945488A>C | CA400617956 | SCN4A | c.3592T>G (p.Phe1198Val)
| |
17 | g.63945488A>G | CA400617958 | SCN4A | c.3592T>C (p.Phe1198Leu)
| |
17 | g.63945488A>T | CA400617957 | SCN4A | c.3592T>A (p.Phe1198Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945489C>A | CA400617959 | SCN4A | c.3591G>T (p.Arg1197Ser)
| |
17 | g.63945489C>G | CA400617960 | SCN4A | c.3591G>C (p.Arg1197Ser)
| |
17 | g.63945489C>T | CA501348661 | SCN4A | c.3591G>A (p.Arg1197=)
| ClinVar |
17 | g.63945490C>A | CA400617961 | SCN4A | c.3590G>T (p.Arg1197Met)
| |
17 | g.63945490C>G | CA400617962 | SCN4A | c.3590G>C (p.Arg1197Thr)
| |
17 | g.63945490C>T | CA400617963 | SCN4A | c.3590G>A (p.Arg1197Lys)
| |
17 | g.63945491T>A | CA400617964 | SCN4A | c.3589A>T (p.Arg1197Trp)
| |
17 | g.63945491T>C | CA400617965 | SCN4A | c.3589A>G (p.Arg1197Gly)
| |
17 | g.63945491T>G | CA501348662 | SCN4A | c.3589A>C (p.Arg1197=)
| |
17 | g.63945492C>A | CA400617966 | SCN4A | c.3588G>T (p.Glu1196Asp)
| |
17 | g.63945492C>G | CA400617967 | SCN4A | c.3588G>C (p.Glu1196Asp)
| |
17 | g.63945492C>T | CA501348663 | SCN4A | c.3588G>A (p.Glu1196=)
| |
17 | g.63945493T>A | CA400617968 | SCN4A | c.3587A>T (p.Glu1196Val)
| |
17 | g.63945493T>C | CA400617969 | SCN4A | c.3587A>G (p.Glu1196Gly)
| |
17 | g.63945493T>G | CA400617970 | SCN4A | c.3587A>C (p.Glu1196Ala)
| |
17 | g.63945494C>A | CA400617971 | SCN4A | c.3586G>T (p.Glu1196Ter)
| dbSNP gnomAD v4 |
17 | g.63945494C= | CA2270162640 | SCN4A | c.3586G= (p.Glu1196=)
| |
17 | g.63945494C>G | CA400617972 | SCN4A | c.3586G>C (p.Glu1196Gln)
| |
17 | g.63945494C>T | CA8709229 | SCN4A | c.3586G>A (p.Glu1196Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945495A= | CA2270162642 | SCN4A | c.3585T= (p.Ser1195=)
| |
17 | g.63945495A>C | CA8709230 | SCN4A | c.3585T>G (p.Ser1195=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945495A>G | CA501348665 | SCN4A | c.3585T>C (p.Ser1195=)
| |
17 | g.63945495A>T | CA501348664 | SCN4A | c.3585T>A (p.Ser1195=)
| |
17 | g.63945496G>A | CA400617973 | SCN4A | c.3584C>T (p.Ser1195Phe)
| |
17 | g.63945496G>C | CA8709231 | SCN4A | c.3584C>G (p.Ser1195Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945496G= | CA2270162644 | SCN4A | c.3584C= (p.Ser1195=)
| |
17 | g.63945496G>T | CA400617974 | SCN4A | c.3584C>A (p.Ser1195Tyr)
| |
17 | g.63945497A>C | CA400617975 | SCN4A | c.3583T>G (p.Ser1195Ala)
| |
17 | g.63945497A>G | CA400617976 | SCN4A | c.3583T>C (p.Ser1195Pro)
| |
17 | g.63945497A>T | CA400617977 | SCN4A | c.3583T>A (p.Ser1195Thr)
| COSMIC |
17 | g.63945498G>A | CA8709232 | SCN4A | c.3582C>T (p.Thr1194=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945498G>C | CA501348666 | SCN4A | c.3582C>G (p.Thr1194=)
| |
17 | g.63945498G= | CA2270162645 | SCN4A | c.3582C= (p.Thr1194=)
| |
17 | g.63945498G>T | CA501348667 | SCN4A | c.3582C>A (p.Thr1194=)
| |
17 | g.63945499G>A | CA400617978 | SCN4A | c.3581C>T (p.Thr1194Ile)
| |
17 | g.63945499G>C | CA400617979 | SCN4A | c.3581C>G (p.Thr1194Ser)
| |
17 | g.63945499G>T | CA400617980 | SCN4A | c.3581C>A (p.Thr1194Asn)
| |
17 | g.63945500T>A | CA400617981 | SCN4A | c.3580A>T (p.Thr1194Ser)
| |
17 | g.63945500T>C | CA400617982 | SCN4A | c.3580A>G (p.Thr1194Ala)
| |
17 | g.63945500T>G | CA400617983 | SCN4A | c.3580A>C (p.Thr1194Pro)
| |
17 | g.63945501G>A | CA501348668 | SCN4A | c.3579C>T (p.Thr1193=)
| COSMIC |
17 | g.63945501G>C | CA501348669 | SCN4A | c.3579C>G (p.Thr1193=)
| |
17 | g.63945501G>T | CA501348670 | SCN4A | c.3579C>A (p.Thr1193=)
| |
17 | g.63945502G>A | CA292961693 | SCN4A | c.3578C>T (p.Thr1193Ile)
| dbSNP COSMIC |
17 | g.63945502G>C | CA400617985 | SCN4A | c.3578C>G (p.Thr1193Ser)
| |
17 | g.63945502G= | CA2270162647 | SCN4A | c.3578C= (p.Thr1193=)
| |
17 | g.63945502G>T | CA400617984 | SCN4A | c.3578C>A (p.Thr1193Asn)
| |
17 | g.63945503T>A | CA400617986 | SCN4A | c.3577A>T (p.Thr1193Ser)
| |
17 | g.63945503T>C | CA400617987 | SCN4A | c.3577A>G (p.Thr1193Ala)
| |
17 | g.63945503T>G | CA400617988 | SCN4A | c.3577A>C (p.Thr1193Pro)
| |
17 | g.63945504G>A | CA501348671 | SCN4A | c.3576C>T (p.Thr1192=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63945504G>C | CA501348672 | SCN4A | c.3576C>G (p.Thr1192=)
| |
17 | g.63945504G= | CA2270162649 | SCN4A | c.3576C= (p.Thr1192=)
| |
17 | g.63945504G>T | CA501348673 | SCN4A | c.3576C>A (p.Thr1192=)
| |
17 | g.63945505G>A | CA400617991 | SCN4A | c.3575C>T (p.Thr1192Ile)
| |
17 | g.63945505G>C | CA400617993 | SCN4A | c.3575C>G (p.Thr1192Ser)
| |
17 | g.63945505G>T | CA400617995 | SCN4A | c.3575C>A (p.Thr1192Asn)
| |
17 | g.63945506T>A | CA400617998 | SCN4A | c.3574A>T (p.Thr1192Ser)
| |
17 | g.63945506T>C | CA400617999 | SCN4A | c.3574A>G (p.Thr1192Ala)
| |
17 | g.63945506T>G | CA400618001 | SCN4A | c.3574A>C (p.Thr1192Pro)
| COSMIC |
17 | g.63945507G>A | CA501348674 | SCN4A | c.3573C>T (p.Asn1191=)
| gnomAD v4 |
17 | g.63945507G>C | CA400618003 | SCN4A | c.3573C>G (p.Asn1191Lys)
| |
17 | g.63945507G>T | CA400618004 | SCN4A | c.3573C>A (p.Asn1191Lys)
| |
17 | g.63945508T>A | CA400618010 | SCN4A | c.3572A>T (p.Asn1191Ile)
| |
17 | g.63945508T>C | CA400618009 | SCN4A | c.3572A>G (p.Asn1191Ser)
| |
17 | g.63945508T>G | CA400618007 | SCN4A | c.3572A>C (p.Asn1191Thr)
| |
17 | g.63945509T>A | CA400618011 | SCN4A | c.3571A>T (p.Asn1191Tyr)
| |
17 | g.63945509T>C | CA400618012 | SCN4A | c.3571A>G (p.Asn1191Asp)
| |
17 | g.63945509T>G | CA400618014 | SCN4A | c.3571A>C (p.Asn1191His)
| |
17 | g.63945510G>A | CA501348675 | SCN4A | c.3570C>T (p.Ile1190=)
| |
17 | g.63945510G>C | CA400618016 | SCN4A | c.3570C>G (p.Ile1190Met)
| |
17 | g.63945510G>T | CA501348676 | SCN4A | c.3570C>A (p.Ile1190=)
| |
17 | g.63945511A>C | CA400618018 | SCN4A | c.3569T>G (p.Ile1190Ser)
| |
17 | g.63945511A>G | CA400618020 | SCN4A | c.3569T>C (p.Ile1190Thr)
| |
17 | g.63945511A>T | CA400618022 | SCN4A | c.3569T>A (p.Ile1190Asn)
| |
17 | g.63945512T>A | CA400618024 | SCN4A | c.3568A>T (p.Ile1190Phe)
| dbSNP |
17 | g.63945512T>C | CA400618025 | SCN4A | c.3568A>G (p.Ile1190Val)
| |
17 | g.63945512T>G | CA400618027 | SCN4A | c.3568A>C (p.Ile1190Leu)
| |
17 | g.63945512T= | CA2270162651 | SCN4A | c.3568A= (p.Ile1190=)
| |
17 | g.63945513G>A | CA501348677 | SCN4A | c.3567C>T (p.Cys1189=)
| |
17 | g.63945513G>C | CA400618030 | SCN4A | c.3567C>G (p.Cys1189Trp)
| |
17 | g.63945513G= | CA2270162653 | SCN4A | c.3567C= (p.Cys1189=)
| |
17 | g.63945513G>T | CA400618032 | SCN4A | c.3567C>A (p.Cys1189Ter)
| dbSNP |
17 | g.63945514C>A | CA400618038 | SCN4A | c.3566G>T (p.Cys1189Phe)
| |
17 | g.63945514C>G | CA400618037 | SCN4A | c.3566G>C (p.Cys1189Ser)
| |
17 | g.63945514C>T | CA400618035 | SCN4A | c.3566G>A (p.Cys1189Tyr)
| |
17 | g.63945515A>C | CA400618044 | SCN4A | c.3565T>G (p.Cys1189Gly)
| |
17 | g.63945515A>G | CA400618042 | SCN4A | c.3565T>C (p.Cys1189Arg)
| |
17 | g.63945515A>T | CA400618046 | SCN4A | c.3565T>A (p.Cys1189Ser)
| |
17 | g.63945516G>A | CA8709233 | SCN4A | c.3564C>T (p.Tyr1188=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945516G>C | CA400618049 | SCN4A | c.3564C>G (p.Tyr1188Ter)
| |
17 | g.63945516G= | CA2270162655 | SCN4A | c.3564C= (p.Tyr1188=)
| |
17 | g.63945516G>T | CA400618051 | SCN4A | c.3564C>A (p.Tyr1188Ter)
| |
17 | g.63945517T>A | CA400618055 | SCN4A | c.3563A>T (p.Tyr1188Phe)
| |
17 | g.63945517T>C | CA400618057 | SCN4A | c.3563A>G (p.Tyr1188Cys)
| |
17 | g.63945517T>G | CA400618058 | SCN4A | c.3563A>C (p.Tyr1188Ser)
| |
17 | g.63945518A= | CA2270162657 | SCN4A | c.3562T= (p.Tyr1188=)
| |
17 | g.63945518A>C | CA400618066 | SCN4A | c.3562T>G (p.Tyr1188Asp)
| |
17 | g.63945518A>G | CA8709234 | SCN4A | c.3562T>C (p.Tyr1188His)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.63945518A>T | CA400618064 | SCN4A | c.3562T>A (p.Tyr1188Asn)
| |
17 | g.63945519G>A | CA501348678 | SCN4A | c.3561C>T (p.Tyr1187=)
| |
17 | g.63945519G>C | CA400618069 | SCN4A | c.3561C>G (p.Tyr1187Ter)
| |
17 | g.63945519G>T | CA400618071 | SCN4A | c.3561C>A (p.Tyr1187Ter)
| |
17 | g.63945520T>A | CA400618074 | SCN4A | c.3560A>T (p.Tyr1187Phe)
| |
17 | g.63945520T>C | CA400618075 | SCN4A | c.3560A>G (p.Tyr1187Cys)
| gnomAD v4 |
17 | g.63945520T>G | CA400618077 | SCN4A | c.3560A>C (p.Tyr1187Ser)
| |
17 | g.63945521A>C | CA400618080 | SCN4A | c.3559T>G (p.Tyr1187Asp)
| |
17 | g.63945521A>G | CA400618083 | SCN4A | c.3559T>C (p.Tyr1187His)
| |
17 | g.63945521A>T | CA400618082 | SCN4A | c.3559T>A (p.Tyr1187Asn)
| |
17 | g.63945522G>A | CA501348679 | SCN4A | c.3558C>T (p.Phe1186=)
| |
17 | g.63945522G>C | CA400618084 | SCN4A | c.3558C>G (p.Phe1186Leu)
| |
17 | g.63945522G= | CA2270162659 | SCN4A | c.3558C= (p.Phe1186=)
| |
17 | g.63945522G>T | CA8709235 | SCN4A | c.3558C>A (p.Phe1186Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945523A>C | CA400618088 | SCN4A | c.3557T>G (p.Phe1186Cys)
| |
17 | g.63945523A>G | CA400618091 | SCN4A | c.3557T>C (p.Phe1186Ser)
| |
17 | g.63945523A>T | CA400618093 | SCN4A | c.3557T>A (p.Phe1186Tyr)
| |
17 | g.63945524A>C | CA400618096 | SCN4A | c.3556T>G (p.Phe1186Val)
| |
17 | g.63945524A>G | CA400618097 | SCN4A | c.3556T>C (p.Phe1186Leu)
| COSMIC |
17 | g.63945524A>T | CA400618099 | SCN4A | c.3556T>A (p.Phe1186Ile)
| |
17 | g.63945525C>A | CA400618101 | SCN4A | c.3555G>T (p.Lys1185Asn)
| |
17 | g.63945525C>G | CA400618104 | SCN4A | c.3555G>C (p.Lys1185Asn)
| |
17 | g.63945525C>T | CA501348680 | SCN4A | c.3555G>A (p.Lys1185=)
| gnomAD v4 |
17 | g.63945526T>A | CA400618111 | SCN4A | c.3554A>T (p.Lys1185Met)
| |
17 | g.63945526T>C | CA400618109 | SCN4A | c.3554A>G (p.Lys1185Arg)
| |
17 | g.63945526T>G | CA400618106 | SCN4A | c.3554A>C (p.Lys1185Thr)
| |
17 | g.63945527T>A | CA400618115 | SCN4A | c.3553A>T (p.Lys1185Ter)
| dbSNP |
17 | g.63945527T>C | CA400618116 | SCN4A | c.3553A>G (p.Lys1185Glu)
| |
17 | g.63945527T>G | CA400618119 | SCN4A | c.3553A>C (p.Lys1185Gln)
| |
17 | g.63945527T= | CA2270162661 | SCN4A | c.3553A= (p.Lys1185=)
| |
17 | g.63945528G>A | CA501348681 | SCN4A | c.3552C>T (p.Gly1184=)
| |
17 | g.63945528G>C | CA501348682 | SCN4A | c.3552C>G (p.Gly1184=)
| |
17 | g.63945528G>T | CA501348683 | SCN4A | c.3552C>A (p.Gly1184=)
| |
17 | g.63945529C>A | CA400618122 | SCN4A | c.3551G>T (p.Gly1184Val)
| |
17 | g.63945529C>G | CA400618124 | SCN4A | c.3551G>C (p.Gly1184Ala)
| |
17 | g.63945529C>T | CA400618126 | SCN4A | c.3551G>A (p.Gly1184Asp)
| |
17 | g.63945530C>A | CA400618129 | SCN4A | c.3550G>T (p.Gly1184Cys)
| |
17 | g.63945530C= | CA2270162663 | SCN4A | c.3550G= (p.Gly1184=)
| |
17 | g.63945530C>G | CA400618131 | SCN4A | c.3550G>C (p.Gly1184Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945530C>T | CA8709236 | SCN4A | c.3550G>A (p.Gly1184Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945531G>A | CA8709237 | SCN4A | c.3549C>T (p.Ala1183=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945531G>C | CA501348684 | SCN4A | c.3549C>G (p.Ala1183=)
| |
17 | g.63945531G= | CA2270162665 | SCN4A | c.3549C= (p.Ala1183=)
| |
17 | g.63945531G>T | CA501348685 | SCN4A | c.3549C>A (p.Ala1183=)
| COSMIC |
17 | g.63945532G>A | CA400618137 | SCN4A | c.3548C>T (p.Ala1183Val)
| COSMIC |
17 | g.63945532G>C | CA400618139 | SCN4A | c.3548C>G (p.Ala1183Gly)
| |
17 | g.63945532G>T | CA400618141 | SCN4A | c.3548C>A (p.Ala1183Asp)
| |
17 | g.63945533C>A | CA400618148 | SCN4A | c.3547G>T (p.Ala1183Ser)
| |
17 | g.63945533C>G | CA400618143 | SCN4A | c.3547G>C (p.Ala1183Pro)
| |
17 | g.63945533C>T | CA400618145 | SCN4A | c.3547G>A (p.Ala1183Thr)
| |
17 | g.63945534A= | CA2270162667 | SCN4A | c.3546T= (p.Phe1182=)
| |
17 | g.63945534A>C | CA400618151 | SCN4A | c.3546T>G (p.Phe1182Leu)
| |
17 | g.63945534A>G | CA8709238 | SCN4A | c.3546T>C (p.Phe1182=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945534A>T | CA400618153 | SCN4A | c.3546T>A (p.Phe1182Leu)
| |
17 | g.63945535A= | CA2270162668 | SCN4A | c.3545T= (p.Phe1182=)
| |
17 | g.63945535A>C | CA292961704 | SCN4A | c.3545T>G (p.Phe1182Cys)
| dbSNP |
17 | g.63945535A>G | CA400618155 | SCN4A | c.3545T>C (p.Phe1182Ser)
| |
17 | g.63945535A>T | CA400618157 | SCN4A | c.3545T>A (p.Phe1182Tyr)
| |
17 | g.63945536A>C | CA400618159 | SCN4A | c.3544T>G (p.Phe1182Val)
| |
17 | g.63945536A>G | CA400618161 | SCN4A | c.3544T>C (p.Phe1182Leu)
| |
17 | g.63945536A>T | CA400618164 | SCN4A | c.3544T>A (p.Phe1182Ile)
| |
17 | g.63945537C>A | CA501348686 | SCN4A | c.3543G>T (p.Leu1181=)
| |
17 | g.63945537C>G | CA501348687 | SCN4A | c.3543G>C (p.Leu1181=)
| |
17 | g.63945537C>T | CA501348688 | SCN4A | c.3543G>A (p.Leu1181=)
| |
17 | g.63945538A>C | CA400618167 | SCN4A | c.3542T>G (p.Leu1181Arg)
| |
17 | g.63945538A>G | CA400618169 | SCN4A | c.3542T>C (p.Leu1181Pro)
| |
17 | g.63945538A>T | CA400618170 | SCN4A | c.3542T>A (p.Leu1181Gln)
| |
17 | g.63945539G>A | CA8709240 | SCN4A | c.3541C>T (p.Leu1181=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945539G>C | CA400618175 | SCN4A | c.3541C>G (p.Leu1181Val)
| |
17 | g.63945539G= | CA2270162670 | SCN4A | c.3541C= (p.Leu1181=)
| |
17 | g.63945539G>T | CA8709239 | SCN4A | c.3541C>A (p.Leu1181Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945540G>A | CA501348689 | SCN4A | c.3540C>T (p.Asn1180=)
| |
17 | g.63945540G>C | CA400618178 | SCN4A | c.3540C>G (p.Asn1180Lys)
| |
17 | g.63945540G= | CA2270162672 | SCN4A | c.3540C= (p.Asn1180=)
| |
17 | g.63945540G>T | CA400618180 | SCN4A | c.3540C>A (p.Asn1180Lys)
| dbSNP gnomAD v4 |
17 | g.63945541T>A | CA400618183 | SCN4A | c.3539A>T (p.Asn1180Ile)
| ClinVar dbSNP |
17 | g.63945541T>C | CA400618184 | SCN4A | c.3539A>G (p.Asn1180Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.63945541T>G | CA400618185 | SCN4A | c.3539A>C (p.Asn1180Thr)
| |
17 | g.63945541T= | CA2270162674 | SCN4A | c.3539A= (p.Asn1180=)
| |
17 | g.63945542T>A | CA400618188 | SCN4A | c.3538A>T (p.Asn1180Tyr)
| |
17 | g.63945542T>C | CA400618187 | SCN4A | c.3538A>G (p.Asn1180Asp)
| |
17 | g.63945542T>G | CA400618186 | SCN4A | c.3538A>C (p.Asn1180His)
| |
17 | g.63945543G>A | CA501348690 | SCN4A | c.3537C>T (p.Val1179=)
| |
17 | g.63945543G>C | CA501348691 | SCN4A | c.3537C>G (p.Val1179=)
| |
17 | g.63945543G>T | CA501348692 | SCN4A | c.3537C>A (p.Val1179=)
| |
17 | g.63945544A= | CA2270162676 | SCN4A | c.3536T= (p.Val1179=)
| |
17 | g.63945544A>C | CA400618190 | SCN4A | c.3536T>G (p.Val1179Gly)
| |
17 | g.63945544A>G | CA400618192 | SCN4A | c.3536T>C (p.Val1179Ala)
| dbSNP |
17 | g.63945544A>T | CA400618194 | SCN4A | c.3536T>A (p.Val1179Asp)
| |
17 | g.63945545C>A | CA400618197 | SCN4A | c.3535G>T (p.Val1179Phe)
| |
17 | g.63945545C= | CA2270162678 | SCN4A | c.3535G= (p.Val1179=)
| |
17 | g.63945545C>G | CA400618199 | SCN4A | c.3535G>C (p.Val1179Leu)
| |
17 | g.63945545C>T | CA400618201 | SCN4A | c.3535G>A (p.Val1179Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945545_63945546insT | CA2596764799 | SCN4A | c.3534_3535insA (p.Val1179SerfsTer18)
| gnomAD v3 gnomAD v4 |
17 | g.63945546A>C | CA501348695 | SCN4A | c.3534T>G (p.Gly1178=)
| |
17 | g.63945546A>G | CA501348694 | SCN4A | c.3534T>C (p.Gly1178=)
| |
17 | g.63945546A>T | CA501348693 | SCN4A | c.3534T>A (p.Gly1178=)
| |
17 | g.63945547C>A | CA400618208 | SCN4A | c.3533G>T (p.Gly1178Val)
| |
17 | g.63945547C= | CA2270162680 | SCN4A | c.3533G= (p.Gly1178=)
| |
17 | g.63945547C>G | CA400618204 | SCN4A | c.3533G>C (p.Gly1178Ala)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945547C>T | CA400618205 | SCN4A | c.3533G>A (p.Gly1178Asp)
| gnomAD v4 |
17 | g.63945548C>A | CA400618211 | SCN4A | c.3532G>T (p.Gly1178Cys)
| |
17 | g.63945548C>G | CA400618213 | SCN4A | c.3532G>C (p.Gly1178Arg)
| |
17 | g.63945548C>T | CA400618215 | SCN4A | c.3532G>A (p.Gly1178Ser)
| |
17 | g.63945549C>A | CA400618217 | SCN4A | c.3531G>T (p.Met1177Ile)
| |
17 | g.63945549C>G | CA400618219 | SCN4A | c.3531G>C (p.Met1177Ile)
| gnomAD v4 |
17 | g.63945549C>T | CA400618221 | SCN4A | c.3531G>A (p.Met1177Ile)
| |
17 | g.63945550A>C | CA400618224 | SCN4A | c.3530T>G (p.Met1177Arg)
| |
17 | g.63945550A>G | CA400618227 | SCN4A | c.3530T>C (p.Met1177Thr)
| |
17 | g.63945550A>T | CA400618230 | SCN4A | c.3530T>A (p.Met1177Lys)
| |
17 | g.63945551T>A | CA400618234 | SCN4A | c.3529A>T (p.Met1177Leu)
| |
17 | g.63945551T>C | CA8709241 | SCN4A | c.3529A>G (p.Met1177Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945551T>G | CA400618239 | SCN4A | c.3529A>C (p.Met1177Leu)
| |
17 | g.63945551T= | CA2270162681 | SCN4A | c.3529A= (p.Met1177=)
| |
17 | g.63945552G>A | CA501348696 | SCN4A | c.3528C>T (p.Ile1176=)
| gnomAD v4 |
17 | g.63945552G>C | CA400618242 | SCN4A | c.3528C>G (p.Ile1176Met)
| |
17 | g.63945552G>T | CA501348697 | SCN4A | c.3528C>A (p.Ile1176=)
| |
17 | g.63945553A>C | CA400618245 | SCN4A | c.3527T>G (p.Ile1176Ser)
| |
17 | g.63945553A>G | CA400618243 | SCN4A | c.3527T>C (p.Ile1176Thr)
| gnomAD v4 |
17 | g.63945553A>T | CA400618244 | SCN4A | c.3527T>A (p.Ile1176Asn)
| |
17 | g.63945554T>A | CA400618247 | SCN4A | c.3526A>T (p.Ile1176Phe)
| |
17 | g.63945554T>C | CA400618249 | SCN4A | c.3526A>G (p.Ile1176Val)
| dbSNP |
17 | g.63945554T>G | CA400618250 | SCN4A | c.3526A>C (p.Ile1176Leu)
| |
17 | g.63945554T= | CA2270162683 | SCN4A | c.3526A= (p.Ile1176=)
| |
17 | g.63945555G>A | CA8709242 | SCN4A | c.3525C>T (p.Ser1175=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945555G>C | CA400618258 | SCN4A | c.3525C>G (p.Ser1175Arg)
| |
17 | g.63945555G= | CA2270162685 | SCN4A | c.3525C= (p.Ser1175=)
| |
17 | g.63945555G>T | CA400618261 | SCN4A | c.3525C>A (p.Ser1175Arg)
| |
17 | g.63945556C>A | CA400618271 | SCN4A | c.3524G>T (p.Ser1175Ile)
| |
17 | g.63945556C= | CA2270162687 | SCN4A | c.3524G= (p.Ser1175=)
| |
17 | g.63945556C>G | CA8709243 | SCN4A | c.3524G>C (p.Ser1175Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945556C>T | CA400618269 | SCN4A | c.3524G>A (p.Ser1175Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945557T>A | CA400618277 | SCN4A | c.3523A>T (p.Ser1175Cys)
| |
17 | g.63945557T>C | CA400618279 | SCN4A | c.3523A>G (p.Ser1175Gly)
| gnomAD v4 |
17 | g.63945557T>G | CA400618282 | SCN4A | c.3523A>C (p.Ser1175Arg)
| |
17 | g.63945558G>A | CA501348700 | SCN4A | c.3522C>T (p.Phe1174=)
| |
17 | g.63945558G>C | CA400618298 | SCN4A | c.3522C>G (p.Phe1174Leu)
| |
17 | g.63945558G>T | CA400618302 | SCN4A | c.3522C>A (p.Phe1174Leu)
| |
17 | g.63945559A>C | CA400618312 | SCN4A | c.3521T>G (p.Phe1174Cys)
| |
17 | g.63945559A>G | CA400618307 | SCN4A | c.3521T>C (p.Phe1174Ser)
| |
17 | g.63945559A>T | CA400618309 | SCN4A | c.3521T>A (p.Phe1174Tyr)
| |
17 | g.63945560A= | CA2270162689 | SCN4A | c.3520T= (p.Phe1174=)
| |
17 | g.63945560A>C | CA400618317 | SCN4A | c.3520T>G (p.Phe1174Val)
| |
17 | g.63945560A>G | CA400618329 | SCN4A | c.3520T>C (p.Phe1174Leu)
| |
17 | g.63945560A>T | CA400618332 | SCN4A | c.3520T>A (p.Phe1174Ile)
| dbSNP gnomAD v2 |
17 | g.63945561G>A | CA501348702 | SCN4A | c.3519C>T (p.Ile1173=)
| gnomAD v4 |
17 | g.63945561G>C | CA400618334 | SCN4A | c.3519C>G (p.Ile1173Met)
| |
17 | g.63945561G= | CA2270162691 | SCN4A | c.3519C= (p.Ile1173=)
| |
17 | g.63945561G>T | CA8709244 | SCN4A | c.3519C>A (p.Ile1173=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945562A>C | CA400618338 | SCN4A | c.3518T>G (p.Ile1173Ser)
| |
17 | g.63945562A>G | CA400618341 | SCN4A | c.3518T>C (p.Ile1173Thr)
| gnomAD v4 |
17 | g.63945562A>T | CA400618344 | SCN4A | c.3518T>A (p.Ile1173Asn)
| |
17 | g.63945563T>A | CA400618349 | SCN4A | c.3517A>T (p.Ile1173Phe)
| |
17 | g.63945563T>C | CA400618352 | SCN4A | c.3517A>G (p.Ile1173Val)
| |
17 | g.63945563T>G | CA400618354 | SCN4A | c.3517A>C (p.Ile1173Leu)
| |
17 | g.63945564C>A | CA501218995 | SCN4A | c.3516G>T (p.Leu1172=)
| dbSNP gnomAD v4 COSMIC |
17 | g.63945564C= | CA2270162693 | SCN4A | c.3516G= (p.Leu1172=)
| |
17 | g.63945564C>G | CA501218998 | SCN4A | c.3516G>C (p.Leu1172=)
| gnomAD v4 |
17 | g.63945564C>T | CA8709245 | SCN4A | c.3516G>A (p.Leu1172=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945565A>C | CA400618363 | SCN4A | c.3515T>G (p.Leu1172Arg)
| |
17 | g.63945565A>G | CA400618371 | SCN4A | c.3515T>C (p.Leu1172Pro)
| |
17 | g.63945565A>T | CA400618366 | SCN4A | c.3515T>A (p.Leu1172Gln)
| |
17 | g.63945566G>A | CA501219006 | SCN4A | c.3514C>T (p.Leu1172=)
| |
17 | g.63945566G>C | CA400618375 | SCN4A | c.3514C>G (p.Leu1172Val)
| |
17 | g.63945566G= | CA2270162695 | SCN4A | c.3514C= (p.Leu1172=)
| |
17 | g.63945566G>T | CA400618377 | SCN4A | c.3514C>A (p.Leu1172Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945567C>A | CA400618383 | SCN4A | c.3513G>T (p.Trp1171Cys)
| |
17 | g.63945567C= | CA2270162697 | SCN4A | c.3513G= (p.Trp1171=)
| |
17 | g.63945567C>G | CA400618385 | SCN4A | c.3513G>C (p.Trp1171Cys)
| |
17 | g.63945567C>T | CA400618388 | SCN4A | c.3513G>A (p.Trp1171Ter)
| dbSNP |
17 | g.63945568C>A | CA400618393 | SCN4A | c.3512G>T (p.Trp1171Leu)
| |
17 | g.63945568C>G | CA400618396 | SCN4A | c.3512G>C (p.Trp1171Ser)
| |
17 | g.63945568C>T | CA400618399 | SCN4A | c.3512G>A (p.Trp1171Ter)
| |
17 | g.63945569A>C | CA400618404 | SCN4A | c.3511T>G (p.Trp1171Gly)
| |
17 | g.63945569A>G | CA400618407 | SCN4A | c.3511T>C (p.Trp1171Arg)
| |
17 | g.63945569A>T | CA400618411 | SCN4A | c.3511T>A (p.Trp1171Arg)
| |
17 | g.63945572_63945574del | CA2639312279 | SCN4A | c.3509_3511del (p.Phe1170del)
| gnomAD v4 |
17 | g.63945570G>A | CA8709246 | SCN4A | c.3510C>T (p.Phe1170=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945570G>C | CA400618419 | SCN4A | c.3510C>G (p.Phe1170Leu)
| |
17 | g.63945570G= | CA2270162698 | SCN4A | c.3510C= (p.Phe1170=)
| |
17 | g.63945570G>T | CA400618422 | SCN4A | c.3510C>A (p.Phe1170Leu)
| |