17 | g.63945394T>A | CA400617744 | SCN4A | c.3686A>T (p.Asn1229Ile)
| |
17 | g.63945394T>C | CA292961573 | SCN4A | c.3686A>G (p.Asn1229Ser)
| ClinVar dbSNP |
17 | g.63945394T>G | CA400617745 | SCN4A | c.3686A>C (p.Asn1229Thr)
| |
17 | g.63945394T= | CA2270162507 | SCN4A | c.3686A= (p.Asn1229=)
| |
17 | g.63945395T>A | CA400617746 | SCN4A | c.3685A>T (p.Asn1229Tyr)
| |
17 | g.63945395T>C | CA8709208 | SCN4A | c.3685A>G (p.Asn1229Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945395T>G | CA400617747 | SCN4A | c.3685A>C (p.Asn1229His)
| |
17 | g.63945395T= | CA2270162510 | SCN4A | c.3685A= (p.Asn1229=)
| |
17 | g.63945396G>A | CA501348612 | SCN4A | c.3684C>T (p.Asp1228=)
| |
17 | g.63945396G>C | CA400617748 | SCN4A | c.3684C>G (p.Asp1228Glu)
| |
17 | g.63945396G>T | CA400617749 | SCN4A | c.3684C>A (p.Asp1228Glu)
| |
17 | g.63945397T>A | CA400617750 | SCN4A | c.3683A>T (p.Asp1228Val)
| |
17 | g.63945397T>C | CA400617751 | SCN4A | c.3683A>G (p.Asp1228Gly)
| gnomAD v4 |
17 | g.63945397T>G | CA400617752 | SCN4A | c.3683A>C (p.Asp1228Ala)
| |
17 | g.63945398C>A | CA400617754 | SCN4A | c.3682G>T (p.Asp1228Tyr)
| |
17 | g.63945398C= | CA2270162513 | SCN4A | c.3682G= (p.Asp1228=)
| |
17 | g.63945398C>G | CA400617753 | SCN4A | c.3682G>C (p.Asp1228His)
| |
17 | g.63945398C>T | CA8709209 | SCN4A | c.3682G>A (p.Asp1228Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945399del | CA2639311853 | SCN4A | c.3681del (p.Tyr1227Ter)
| gnomAD v4 |
17 | g.63945399G>A | CA8709210 | SCN4A | c.3681C>T (p.Tyr1227=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945399G>C | CA400617755 | SCN4A | c.3681C>G (p.Tyr1227Ter)
| |
17 | g.63945399G= | CA2270162520 | SCN4A | c.3681C= (p.Tyr1227=)
| |
17 | g.63945399G>T | CA400617756 | SCN4A | c.3681C>A (p.Tyr1227Ter)
| |
17 | g.63945400T>A | CA400617757 | SCN4A | c.3680A>T (p.Tyr1227Phe)
| |
17 | g.63945400T>C | CA400617758 | SCN4A | c.3680A>G (p.Tyr1227Cys)
| |
17 | g.63945400T>G | CA400617759 | SCN4A | c.3680A>C (p.Tyr1227Ser)
| |
17 | g.63945401A= | CA2270162525 | SCN4A | c.3679T= (p.Tyr1227=)
| |
17 | g.63945401A>C | CA400617762 | SCN4A | c.3679T>G (p.Tyr1227Asp)
| ClinVar |
17 | g.63945401A>G | CA400617760 | SCN4A | c.3679T>C (p.Tyr1227His)
| ClinVar dbSNP gnomAD v4 |
17 | g.63945401A>T | CA400617761 | SCN4A | c.3679T>A (p.Tyr1227Asn)
| |
17 | g.63945402G>A | CA501348617 | SCN4A | c.3678C>T (p.Asn1226=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945402G>C | CA400617763 | SCN4A | c.3678C>G (p.Asn1226Lys)
| |
17 | g.63945402G= | CA2270162529 | SCN4A | c.3678C= (p.Asn1226=)
| |
17 | g.63945402G>T | CA400617764 | SCN4A | c.3678C>A (p.Asn1226Lys)
| |
17 | g.63945403T>A | CA400617765 | SCN4A | c.3677A>T (p.Asn1226Ile)
| |
17 | g.63945403T>C | CA400617766 | SCN4A | c.3677A>G (p.Asn1226Ser)
| gnomAD v4 |
17 | g.63945403T>G | CA400617767 | SCN4A | c.3677A>C (p.Asn1226Thr)
| |
17 | g.63945404T>A | CA400617770 | SCN4A | c.3676A>T (p.Asn1226Tyr)
| |
17 | g.63945404T>C | CA400617768 | SCN4A | c.3676A>G (p.Asn1226Asp)
| |
17 | g.63945404T>G | CA400617769 | SCN4A | c.3676A>C (p.Asn1226His)
| |
17 | g.63945405G>A | CA501348618 | SCN4A | c.3675C>T (p.Val1225=)
| |
17 | g.63945405G>C | CA501348620 | SCN4A | c.3675C>G (p.Val1225=)
| |
17 | g.63945405G>T | CA501348619 | SCN4A | c.3675C>A (p.Val1225=)
| gnomAD v4 |
17 | g.63945406A>C | CA400617771 | SCN4A | c.3674T>G (p.Val1225Gly)
| gnomAD v4 |
17 | g.63945406A>G | CA400617772 | SCN4A | c.3674T>C (p.Val1225Ala)
| |
17 | g.63945406A>T | CA400617773 | SCN4A | c.3674T>A (p.Val1225Asp)
| |
17 | g.63945407C>A | CA400617774 | SCN4A | c.3673G>T (p.Val1225Phe)
| |
17 | g.63945407C>G | CA400617775 | SCN4A | c.3673G>C (p.Val1225Leu)
| |
17 | g.63945407C>T | CA400617776 | SCN4A | c.3673G>A (p.Val1225Ile)
| |
17 | g.63945408C>A | CA400617777 | SCN4A | c.3672G>T (p.Lys1224Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945408C= | CA2270162532 | SCN4A | c.3672G= (p.Lys1224=)
| |
17 | g.63945408C>G | CA400617778 | SCN4A | c.3672G>C (p.Lys1224Asn)
| |
17 | g.63945408C>T | CA8709211 | SCN4A | c.3672G>A (p.Lys1224=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945409T>A | CA400617779 | SCN4A | c.3671A>T (p.Lys1224Met)
| |
17 | g.63945409T>C | CA400617780 | SCN4A | c.3671A>G (p.Lys1224Arg)
| |
17 | g.63945409T>G | CA400617781 | SCN4A | c.3671A>C (p.Lys1224Thr)
| |
17 | g.63945410T>A | CA400617784 | SCN4A | c.3670A>T (p.Lys1224Ter)
| |
17 | g.63945410T>C | CA400617782 | SCN4A | c.3670A>G (p.Lys1224Glu)
| |
17 | g.63945410T>G | CA400617783 | SCN4A | c.3670A>C (p.Lys1224Gln)
| gnomAD v4 |
17 | g.63945411G>A | CA501348621 | SCN4A | c.3669C>T (p.Val1223=)
| |
17 | g.63945411G>C | CA501348622 | SCN4A | c.3669C>G (p.Val1223=)
| |
17 | g.63945411G>T | CA501348623 | SCN4A | c.3669C>A (p.Val1223=)
| |
17 | g.63945412A>C | CA400617785 | SCN4A | c.3668T>G (p.Val1223Gly)
| |
17 | g.63945412A>G | CA400617787 | SCN4A | c.3668T>C (p.Val1223Ala)
| |
17 | g.63945412A>T | CA400617786 | SCN4A | c.3668T>A (p.Val1223Asp)
| |
17 | g.63945413C>A | CA400617788 | SCN4A | c.3667G>T (p.Val1223Phe)
| |
17 | g.63945413C= | CA2270162535 | SCN4A | c.3667G= (p.Val1223=)
| |
17 | g.63945413C>G | CA400617789 | SCN4A | c.3667G>C (p.Val1223Leu)
| |
17 | g.63945413C>T | CA8709212 | SCN4A | c.3667G>A (p.Val1223Ile)
| dbSNP ExAC gnomAD v2 |
17 | g.63945414A>C | CA400617790 | SCN4A | c.3666T>G (p.Asn1222Lys)
| gnomAD v4 |
17 | g.63945414A>G | CA501348624 | SCN4A | c.3666T>C (p.Asn1222=)
| |
17 | g.63945414A>T | CA400617791 | SCN4A | c.3666T>A (p.Asn1222Lys)
| |
17 | g.63945415T>A | CA400617792 | SCN4A | c.3665A>T (p.Asn1222Ile)
| |
17 | g.63945415T>C | CA400617793 | SCN4A | c.3665A>G (p.Asn1222Ser)
| |
17 | g.63945415T>G | CA400617794 | SCN4A | c.3665A>C (p.Asn1222Thr)
| |
17 | g.63945416dup | CA2576355620 | SCN4A | c.3665dup (p.Asn1222LysfsTer?)
| |
17 | g.63945416T>A | CA400617795 | SCN4A | c.3664A>T (p.Asn1222Tyr)
| |
17 | g.63945416T>C | CA400617796 | SCN4A | c.3664A>G (p.Asn1222Asp)
| |
17 | g.63945416T>G | CA400617797 | SCN4A | c.3664A>C (p.Asn1222His)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945416T= | CA2270162537 | SCN4A | c.3664A= (p.Asn1222=)
| |
17 | g.63945417G>A | CA501348625 | SCN4A | c.3663C>T (p.Leu1221=)
| |
17 | g.63945417G>C | CA501348626 | SCN4A | c.3663C>G (p.Leu1221=)
| gnomAD v4 |
17 | g.63945417G>T | CA501348627 | SCN4A | c.3663C>A (p.Leu1221=)
| |
17 | g.63945418A= | CA2270162543 | SCN4A | c.3662T= (p.Leu1221=)
| |
17 | g.63945418A>C | CA400617800 | SCN4A | c.3662T>G (p.Leu1221Arg)
| dbSNP |
17 | g.63945418A>G | CA400617799 | SCN4A | c.3662T>C (p.Leu1221Pro)
| |
17 | g.63945418A>T | CA400617798 | SCN4A | c.3662T>A (p.Leu1221His)
| |
17 | g.63945419G>A | CA400617801 | SCN4A | c.3661C>T (p.Leu1221Phe)
| |
17 | g.63945419G>C | CA400617802 | SCN4A | c.3661C>G (p.Leu1221Val)
| |
17 | g.63945419G>T | CA400617803 | SCN4A | c.3661C>A (p.Leu1221Ile)
| |
17 | g.63945420C>A | CA400617804 | SCN4A | c.3660G>T (p.Trp1220Cys)
| |
17 | g.63945420C= | CA2270162545 | SCN4A | c.3660G= (p.Trp1220=)
| |
17 | g.63945420C>G | CA400617805 | SCN4A | c.3660G>C (p.Trp1220Cys)
| |
17 | g.63945420C>T | CA400617806 | SCN4A | c.3660G>A (p.Trp1220Ter)
| dbSNP |
17 | g.63945421C>A | CA400617807 | SCN4A | c.3659G>T (p.Trp1220Leu)
| |
17 | g.63945421C>G | CA400617808 | SCN4A | c.3659G>C (p.Trp1220Ser)
| |
17 | g.63945421C>T | CA400617809 | SCN4A | c.3659G>A (p.Trp1220Ter)
| |
17 | g.63945422A>C | CA400617810 | SCN4A | c.3658T>G (p.Trp1220Gly)
| |
17 | g.63945422A>G | CA400617811 | SCN4A | c.3658T>C (p.Trp1220Arg)
| |
17 | g.63945422A>T | CA400617812 | SCN4A | c.3658T>A (p.Trp1220Arg)
| |
17 | g.63945423G>A | CA501348628 | SCN4A | c.3657C>T (p.Arg1219=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63945423G>C | CA501348629 | SCN4A | c.3657C>G (p.Arg1219=)
| gnomAD v4 |
17 | g.63945423G= | CA2270162548 | SCN4A | c.3657C= (p.Arg1219=)
| |
17 | g.63945423G>T | CA501348630 | SCN4A | c.3657C>A (p.Arg1219=)
| |
17 | g.63945424C>A | CA400617815 | SCN4A | c.3656G>T (p.Arg1219Leu)
| |
17 | g.63945424C= | CA2270162552 | SCN4A | c.3656G= (p.Arg1219=)
| |
17 | g.63945424C>G | CA400617814 | SCN4A | c.3656G>C (p.Arg1219Pro)
| |
17 | g.63945424C>T | CA400617813 | SCN4A | c.3656G>A (p.Arg1219His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63945425G>A | CA8709213 | SCN4A | c.3655C>T (p.Arg1219Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63945425G>C | CA400617816 | SCN4A | c.3655C>G (p.Arg1219Gly)
| |
17 | g.63945425G= | CA2270162555 | SCN4A | c.3655C= (p.Arg1219=)
| |
17 | g.63945425G>T | CA400617817 | SCN4A | c.3655C>A (p.Arg1219Ser)
| |
17 | g.63945426G>A | CA501348631 | SCN4A | c.3654C>T (p.Val1218=)
| |
17 | g.63945426G>C | CA501348632 | SCN4A | c.3654C>G (p.Val1218=)
| |
17 | g.63945426G>T | CA501348633 | SCN4A | c.3654C>A (p.Val1218=)
| |
17 | g.63945427A>C | CA400617818 | SCN4A | c.3653T>G (p.Val1218Gly)
| |
17 | g.63945427A>G | CA400617819 | SCN4A | c.3653T>C (p.Val1218Ala)
| |
17 | g.63945427A>T | CA400617820 | SCN4A | c.3653T>A (p.Val1218Asp)
| |
17 | g.63945428C>A | CA8709214 | SCN4A | c.3652G>T (p.Val1218Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63945428C= | CA2270162557 | SCN4A | c.3652G= (p.Val1218=)
| |
17 | g.63945428C>G | CA400617821 | SCN4A | c.3652G>C (p.Val1218Leu)
| |
17 | g.63945428C>T | CA400617822 | SCN4A | c.3652G>A (p.Val1218Ile)
| |
17 | g.63945429C>A | CA400617823 | SCN4A | c.3651G>T (p.Gln1217His)
| |
17 | g.63945429C= | CA2270162559 | SCN4A | c.3651G= (p.Gln1217=)
| |
17 | g.63945429C>G | CA400617824 | SCN4A | c.3651G>C (p.Gln1217His)
| dbSNP gnomAD v2 |
17 | g.63945429C>T | CA501348634 | SCN4A | c.3651G>A (p.Gln1217=)
| gnomAD v4 |
17 | g.63945430T>A | CA400617825 | SCN4A | c.3650A>T (p.Gln1217Leu)
| |
17 | g.63945430T>C | CA400617826 | SCN4A | c.3650A>G (p.Gln1217Arg)
| |
17 | g.63945430T>G | CA400617827 | SCN4A | c.3650A>C (p.Gln1217Pro)
| |
17 | g.63945431G>A | CA400617828 | SCN4A | c.3649C>T (p.Gln1217Ter)
| |
17 | g.63945431G>C | CA292961610 | SCN4A | c.3649C>G (p.Gln1217Glu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945431G= | CA2270162561 | SCN4A | c.3649C= (p.Gln1217=)
| |
17 | g.63945431G>T | CA8709215 | SCN4A | c.3649C>A (p.Gln1217Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945432G>A | CA501348635 | SCN4A | c.3648C>T (p.Gly1216=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945432G>C | CA501348636 | SCN4A | c.3648C>G (p.Gly1216=)
| gnomAD v4 |
17 | g.63945432G= | CA2270162565 | SCN4A | c.3648C= (p.Gly1216=)
| |
17 | g.63945432G>T | CA501348637 | SCN4A | c.3648C>A (p.Gly1216=)
| |
17 | g.63945433C>A | CA400617829 | SCN4A | c.3647G>T (p.Gly1216Val)
| |
17 | g.63945433C>G | CA400617830 | SCN4A | c.3647G>C (p.Gly1216Ala)
| |
17 | g.63945433C>T | CA400617831 | SCN4A | c.3647G>A (p.Gly1216Asp)
| |
17 | g.63945434C>A | CA400617832 | SCN4A | c.3646G>T (p.Gly1216Cys)
| |
17 | g.63945434C>G | CA400617833 | SCN4A | c.3646G>C (p.Gly1216Arg)
| |
17 | g.63945434C>T | CA400617834 | SCN4A | c.3646G>A (p.Gly1216Ser)
| |
17 | g.63945435T>A | CA501348638 | SCN4A | c.3645A>T (p.Thr1215=)
| |
17 | g.63945435T>C | CA501348639 | SCN4A | c.3645A>G (p.Thr1215=)
| |
17 | g.63945435T>G | CA501348640 | SCN4A | c.3645A>C (p.Thr1215=)
| gnomAD v4 |
17 | g.63945436G>A | CA400617835 | SCN4A | c.3644C>T (p.Thr1215Ile)
| |
17 | g.63945436G>C | CA400617836 | SCN4A | c.3644C>G (p.Thr1215Arg)
| |
17 | g.63945436G>T | CA400617837 | SCN4A | c.3644C>A (p.Thr1215Lys)
| |
17 | g.63945437T>A | CA400617838 | SCN4A | c.3643A>T (p.Thr1215Ser)
| |
17 | g.63945437T>C | CA400617839 | SCN4A | c.3643A>G (p.Thr1215Ala)
| |
17 | g.63945437T>G | CA400617840 | SCN4A | c.3643A>C (p.Thr1215Pro)
| |
17 | g.63945438G>A | CA8709216 | SCN4A | c.3642C>T (p.His1214=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945438G>C | CA400617842 | SCN4A | c.3642C>G (p.His1214Gln)
| |
17 | g.63945438G= | CA2270162567 | SCN4A | c.3642C= (p.His1214=)
| |
17 | g.63945438G>T | CA400617841 | SCN4A | c.3642C>A (p.His1214Gln)
| |
17 | g.63945439T>A | CA400617843 | SCN4A | c.3641A>T (p.His1214Leu)
| |
17 | g.63945439T>C | CA400617845 | SCN4A | c.3641A>G (p.His1214Arg)
| |
17 | g.63945439T>G | CA400617844 | SCN4A | c.3641A>C (p.His1214Pro)
| |
17 | g.63945440G>A | CA400617846 | SCN4A | c.3640C>T (p.His1214Tyr)
| gnomAD v4 |
17 | g.63945440G>C | CA400617847 | SCN4A | c.3640C>G (p.His1214Asp)
| |
17 | g.63945440G= | CA2270162569 | SCN4A | c.3640C= (p.His1214=)
| |
17 | g.63945440G>T | CA400617848 | SCN4A | c.3640C>A (p.His1214Asn)
| dbSNP gnomAD v4 |
17 | g.63945441C>A | CA400617849 | SCN4A | c.3639G>T (p.Met1213Ile)
| |
17 | g.63945441C= | CA2270162572 | SCN4A | c.3639G= (p.Met1213=)
| |
17 | g.63945441C>G | CA400617850 | SCN4A | c.3639G>C (p.Met1213Ile)
| |
17 | g.63945441C>T | CA400617851 | SCN4A | c.3639G>A (p.Met1213Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945442A= | CA2270162575 | SCN4A | c.3638T= (p.Met1213=)
| |
17 | g.63945442A>C | CA400617853 | SCN4A | c.3638T>G (p.Met1213Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945442A>G | CA400617852 | SCN4A | c.3638T>C (p.Met1213Thr)
| gnomAD v4 |
17 | g.63945442A>T | CA8709217 | SCN4A | c.3638T>A (p.Met1213Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945443T>A | CA400617854 | SCN4A | c.3637A>T (p.Met1213Leu)
| |
17 | g.63945443T>C | CA400617855 | SCN4A | c.3637A>G (p.Met1213Val)
| |
17 | g.63945443T>G | CA400617856 | SCN4A | c.3637A>C (p.Met1213Leu)
| |
17 | g.63945444G>A | CA501348641 | SCN4A | c.3636C>T (p.Leu1212=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945444G>C | CA501348642 | SCN4A | c.3636C>G (p.Leu1212=)
| |
17 | g.63945444G= | CA2270162577 | SCN4A | c.3636C= (p.Leu1212=)
| |
17 | g.63945444G>T | CA501348643 | SCN4A | c.3636C>A (p.Leu1212=)
| |
17 | g.63945445A>C | CA400617857 | SCN4A | c.3635T>G (p.Leu1212Arg)
| |
17 | g.63945445A>G | CA400617858 | SCN4A | c.3635T>C (p.Leu1212Pro)
| |
17 | g.63945445A>T | CA400617859 | SCN4A | c.3635T>A (p.Leu1212His)
| |
17 | g.63945446G>A | CA400617860 | SCN4A | c.3634C>T (p.Leu1212Phe)
| gnomAD v4 |
17 | g.63945446G>C | CA400617862 | SCN4A | c.3634C>G (p.Leu1212Val)
| |
17 | g.63945446G>T | CA400617861 | SCN4A | c.3634C>A (p.Leu1212Ile)
| |
17 | g.63945447G>A | CA501348644 | SCN4A | c.3633C>T (p.Ser1211=)
| gnomAD v4 |
17 | g.63945447G>C | CA400617863 | SCN4A | c.3633C>G (p.Ser1211Arg)
| gnomAD v4 |
17 | g.63945447G= | CA2270162578 | SCN4A | c.3633C= (p.Ser1211=)
| |
17 | g.63945447G>T | CA292961636 | SCN4A | c.3633C>A (p.Ser1211Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945448C>A | CA400617864 | SCN4A | c.3632G>T (p.Ser1211Ile)
| |
17 | g.63945448C>G | CA400617865 | SCN4A | c.3632G>C (p.Ser1211Thr)
| gnomAD v4 |
17 | g.63945448C>T | CA400617866 | SCN4A | c.3632G>A (p.Ser1211Asn)
| |
17 | g.63945449T>A | CA400617867 | SCN4A | c.3631A>T (p.Ser1211Cys)
| |
17 | g.63945449T>C | CA400617868 | SCN4A | c.3631A>G (p.Ser1211Gly)
| |
17 | g.63945449T>G | CA400617869 | SCN4A | c.3631A>C (p.Ser1211Arg)
| |
17 | g.63945450C>A | CA400617870 | SCN4A | c.3630G>T (p.Glu1210Asp)
| |
17 | g.63945450C= | CA2270162579 | SCN4A | c.3630G= (p.Glu1210=)
| |
17 | g.63945450C>G | CA400617871 | SCN4A | c.3630G>C (p.Glu1210Asp)
| gnomAD v4 |
17 | g.63945450C>T | CA8709218 | SCN4A | c.3630G>A (p.Glu1210=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945451T>A | CA400617872 | SCN4A | c.3629A>T (p.Glu1210Val)
| |
17 | g.63945451T>C | CA8709219 | SCN4A | c.3629A>G (p.Glu1210Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945451T>G | CA400617873 | SCN4A | c.3629A>C (p.Glu1210Ala)
| |
17 | g.63945451T= | CA2270162581 | SCN4A | c.3629A= (p.Glu1210=)
| |
17 | g.63945452C>A | CA400617874 | SCN4A | c.3628G>T (p.Glu1210Ter)
| dbSNP |
17 | g.63945452C= | CA2270162584 | SCN4A | c.3628G= (p.Glu1210=)
| |
17 | g.63945452C>G | CA400617875 | SCN4A | c.3628G>C (p.Glu1210Gln)
| |
17 | g.63945452C>T | CA8709220 | SCN4A | c.3628G>A (p.Glu1210Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945453G>A | CA8709221 | SCN4A | c.3627C>T (p.Cys1209=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945453G>C | CA400617876 | SCN4A | c.3627C>G (p.Cys1209Trp)
| gnomAD v4 |
17 | g.63945453G= | CA2270162587 | SCN4A | c.3627C= (p.Cys1209=)
| |
17 | g.63945453G>T | CA400617877 | SCN4A | c.3627C>A (p.Cys1209Ter)
| dbSNP |
17 | g.63945454C>A | CA400617878 | SCN4A | c.3626G>T (p.Cys1209Phe)
| ClinVar |
17 | g.63945454C>G | CA400617879 | SCN4A | c.3626G>C (p.Cys1209Ser)
| |
17 | g.63945454C>T | CA400617880 | SCN4A | c.3626G>A (p.Cys1209Tyr)
| gnomAD v4 |
17 | g.63945455A= | CA2270162591 | SCN4A | c.3625T= (p.Cys1209=)
| |
17 | g.63945455A>C | CA400617881 | SCN4A | c.3625T>G (p.Cys1209Gly)
| ClinVar |
17 | g.63945455A>G | CA400617882 | SCN4A | c.3625T>C (p.Cys1209Arg)
| ClinVar dbSNP |
17 | g.63945455A>T | CA400617883 | SCN4A | c.3625T>A (p.Cys1209Ser)
| |
17 | g.63945456C>A | CA400617885 | SCN4A | c.3624G>T (p.Glu1208Asp)
| |
17 | g.63945456C= | CA2270162593 | SCN4A | c.3624G= (p.Glu1208=)
| |
17 | g.63945456C>G | CA400617884 | SCN4A | c.3624G>C (p.Glu1208Asp)
| ClinVar gnomAD v4 |
17 | g.63945456C>T | CA501348645 | SCN4A | c.3624G>A (p.Glu1208=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945457T>A | CA400617886 | SCN4A | c.3623A>T (p.Glu1208Val)
| |
17 | g.63945457T>C | CA400617887 | SCN4A | c.3623A>G (p.Glu1208Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945457T>G | CA400617888 | SCN4A | c.3623A>C (p.Glu1208Ala)
| |
17 | g.63945457T= | CA2270162595 | SCN4A | c.3623A= (p.Glu1208=)
| |
17 | g.63945458C>A | CA400617889 | SCN4A | c.3622G>T (p.Glu1208Ter)
| dbSNP |
17 | g.63945458C= | CA2270162600 | SCN4A | c.3622G= (p.Glu1208=)
| |
17 | g.63945458C>G | CA8709222 | SCN4A | c.3622G>C (p.Glu1208Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945458C>T | CA400617890 | SCN4A | c.3622G>A (p.Glu1208Lys)
| COSMIC |
17 | g.63945459A>C | CA501348646 | SCN4A | c.3621T>G (p.Ser1207=)
| |
17 | g.63945459A>G | CA501348647 | SCN4A | c.3621T>C (p.Ser1207=)
| |
17 | g.63945459A>T | CA501348648 | SCN4A | c.3621T>A (p.Ser1207=)
| gnomAD v4 |
17 | g.63945460G>A | CA400617891 | SCN4A | c.3620C>T (p.Ser1207Phe)
| |
17 | g.63945460G>C | CA400617892 | SCN4A | c.3620C>G (p.Ser1207Cys)
| |
17 | g.63945460G>T | CA400617893 | SCN4A | c.3620C>A (p.Ser1207Tyr)
| |
17 | g.63945461A>C | CA400617894 | SCN4A | c.3619T>G (p.Ser1207Ala)
| gnomAD v3 gnomAD v4 |
17 | g.63945461A>G | CA400617895 | SCN4A | c.3619T>C (p.Ser1207Pro)
| |
17 | g.63945461A>T | CA400617896 | SCN4A | c.3619T>A (p.Ser1207Thr)
| |
17 | g.63945462C>A | CA400617898 | SCN4A | c.3618G>T (p.Lys1206Asn)
| |
17 | g.63945462C= | CA2270162607 | SCN4A | c.3618G= (p.Lys1206=)
| |
17 | g.63945462C>G | CA400617897 | SCN4A | c.3618G>C (p.Lys1206Asn)
| |
17 | g.63945462C>T | CA8709224 | SCN4A | c.3618G>A (p.Lys1206=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945462_63945465delinsCTTG | CA2270162605 | SCN4A | c.3615_3618delinsCAAG (p.Asn1205=)
| |
17 | g.63945463T>A | CA400617899 | SCN4A | c.3617A>T (p.Lys1206Met)
| |
17 | g.63945463T>C | CA400617900 | SCN4A | c.3617A>G (p.Lys1206Arg)
| gnomAD v4 |
17 | g.63945463T>G | CA400617901 | SCN4A | c.3617A>C (p.Lys1206Thr)
| |
17 | g.63945469_63945471del | CA8709223 | SCN4A | c.3615_3617del (p.Asn1205del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945464T>A | CA400617902 | SCN4A | c.3616A>T (p.Lys1206Ter)
| dbSNP |
17 | g.63945464T>C | CA400617903 | SCN4A | c.3616A>G (p.Lys1206Glu)
| gnomAD v4 |
17 | g.63945464T>G | CA400617904 | SCN4A | c.3616A>C (p.Lys1206Gln)
| |
17 | g.63945464T= | CA2270162611 | SCN4A | c.3616A= (p.Lys1206=)
| |
17 | g.63945465G>A | CA501348649 | SCN4A | c.3615C>T (p.Asn1205=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945465G>C | CA400617905 | SCN4A | c.3615C>G (p.Asn1205Lys)
| ClinVar dbSNP |
17 | g.63945465G= | CA2270162614 | SCN4A | c.3615C= (p.Asn1205=)
| |
17 | g.63945465G>T | CA400617906 | SCN4A | c.3615C>A (p.Asn1205Lys)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945466T>A | CA400617907 | SCN4A | c.3614A>T (p.Asn1205Ile)
| |
17 | g.63945466T>C | CA400617908 | SCN4A | c.3614A>G (p.Asn1205Ser)
| |
17 | g.63945466T>G | CA400617909 | SCN4A | c.3614A>C (p.Asn1205Thr)
| |
17 | g.63945467T>A | CA400617910 | SCN4A | c.3613A>T (p.Asn1205Tyr)
| |
17 | g.63945467T>C | CA400617911 | SCN4A | c.3613A>G (p.Asn1205Asp)
| |
17 | g.63945467T>G | CA400617912 | SCN4A | c.3613A>C (p.Asn1205His)
| |
17 | g.63945468G>A | CA501348650 | SCN4A | c.3612C>T (p.Asn1204=)
| |
17 | g.63945468G>C | CA400617914 | SCN4A | c.3612C>G (p.Asn1204Lys)
| |
17 | g.63945468G>T | CA400617913 | SCN4A | c.3612C>A (p.Asn1204Lys)
| |
17 | g.63945469T>A | CA400617915 | SCN4A | c.3611A>T (p.Asn1204Ile)
| |
17 | g.63945469T>C | CA400617916 | SCN4A | c.3611A>G (p.Asn1204Ser)
| |
17 | g.63945469T>G | CA400617917 | SCN4A | c.3611A>C (p.Asn1204Thr)
| |
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 |