| 17 | g.63971685C>A | CA2639327417 | SCN4A | c.611+37G>T (n.611+37G>T)
| dbSNP gnomAD v4 |
| 17 | g.63971685C>T | CA2576356209 | SCN4A | c.611+37G>A (n.611+37G>A)
| gnomAD v4 |
| 17 | g.63971686A>C | CA2639327419 | SCN4A | c.611+36T>G (n.611+36T>G)
| gnomAD v4 |
| 17 | g.63971687C>T | CA2639327423 | SCN4A | c.611+35G>A (n.611+35G>A)
| gnomAD v4 |
| 17 | g.63971690del | CA2576356210 | SCN4A | c.611+35del (n.611+35del)
| gnomAD v4 |
| 17 | g.63971688C>A | CA2639327430 | SCN4A | c.611+34G>T (n.611+34G>T)
| gnomAD v4 |
| 17 | g.63971688C= | CA2270175463 | SCN4A | c.611+34G= (n.611+34G=)
| |
| 17 | g.63971688C>T | CA292972666 | SCN4A | c.611+34G>A (n.611+34G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971689C>A | CA2550299108 | SCN4A | c.611+33G>T (n.611+33G>T)
| gnomAD v4 |
| 17 | g.63971689C= | CA2270175464 | SCN4A | c.611+33G= (n.611+33G=)
| |
| 17 | g.63971689C>G | CA774008242 | SCN4A | c.611+33G>C (n.611+33G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971689C>T | CA2639327440 | SCN4A | c.611+33G>A (n.611+33G>A)
| gnomAD v4 |
| 17 | g.63971690C>A | CA2639327444 | SCN4A | c.611+32G>T (n.611+32G>T)
| gnomAD v4 |
| 17 | g.63971690C= | CA2270175465 | SCN4A | c.611+32G= (n.611+32G=)
| |
| 17 | g.63971690C>G | CA2810128078 | SCN4A | c.611+32G>C (n.611+32G>C)
| |
| 17 | g.63971690C>T | CA985437850 | SCN4A | c.611+32G>A (n.611+32G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971691A= | CA2270175466 | SCN4A | c.611+31T= (n.611+31T=)
| |
| 17 | g.63971691A>C | CA2639327448 | SCN4A | c.611+31T>G (n.611+31T>G)
| gnomAD v4 |
| 17 | g.63971691A>G | CA2270175467 | SCN4A | c.611+31T>C (n.611+31T>C)
| dbSNP |
| 17 | g.63971692G>T | CA2639327452 | SCN4A | c.611+30C>A (n.611+30C>A)
| gnomAD v4 |
| 17 | g.63971693C>A | CA2639327454 | SCN4A | c.611+29G>T (n.611+29G>T)
| gnomAD v4 |
| 17 | g.63971693C= | CA2270175468 | SCN4A | c.611+29G= (n.611+29G=)
| |
| 17 | g.63971693C>T | CA627150675 | SCN4A | c.611+29G>A (n.611+29G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971694C= | CA2270175469 | SCN4A | c.611+28G= (n.611+28G=)
| |
| 17 | g.63971694C>T | CA627150676 | SCN4A | c.611+28G>A (n.611+28G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971695T>A | CA2639327457 | SCN4A | c.611+27A>T (n.611+27A>T)
| gnomAD v4 |
| 17 | g.63971695T>C | CA774008246 | SCN4A | c.611+27A>G (n.611+27A>G)
| dbSNP gnomAD v4 |
| 17 | g.63971695T= | CA2270175470 | SCN4A | c.611+27A= (n.611+27A=)
| |
| 17 | g.63971696C= | CA2270175471 | SCN4A | c.611+26G= (n.611+26G=)
| |
| 17 | g.63971696C>T | CA2270175472 | SCN4A | c.611+26G>A (n.611+26G>A)
| dbSNP gnomAD v4 |
| 17 | g.63971697A= | CA2270175474 | SCN4A | c.611+25T= (n.611+25T=)
| |
| 17 | g.63971697A>T | CA774008247 | SCN4A | c.611+25T>A (n.611+25T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971697_63971706delinsAGGATGTCCT | CA2270175473 | SCN4A | c.611+16_611+25delinsAGGACATCCT (n.611+16_611+25delinsAGGACATCCT)
| |
| 17 | g.63971698G>T | CA2639327468 | SCN4A | c.611+24C>A (n.611+24C>A)
| gnomAD v4 |
| 17 | g.63971700_63971708del | CA292972668 | SCN4A | c.611+16_611+24del (n.611+16_611+24del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971699G>A | CA2639327472 | SCN4A | c.611+23C>T (n.611+23C>T)
| gnomAD v4 |
| 17 | g.63971699G>C | CA627150677 | SCN4A | c.611+23C>G (n.611+23C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971699G= | CA2270175475 | SCN4A | c.611+23C= (n.611+23C=)
| |
| 17 | g.63971699G>T | CA627150678 | SCN4A | c.611+23C>A (n.611+23C>A)
| dbSNP gnomAD v2 |
| 17 | g.63971700A>G | CA2639327474 | SCN4A | c.611+22T>C (n.611+22T>C)
| gnomAD v4 |
| 17 | g.63971701T>C | CA627150679 | SCN4A | c.611+21A>G (n.611+21A>G)
| dbSNP gnomAD v2 |
| 17 | g.63971701T= | CA2270175476 | SCN4A | c.611+21A= (n.611+21A=)
| |
| 17 | g.63971702G>A | CA627150680 | SCN4A | c.611+20C>T (n.611+20C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971702G= | CA2270175477 | SCN4A | c.611+20C= (n.611+20C=)
| |
| 17 | g.63971702G>T | CA2639327479 | SCN4A | c.611+20C>A (n.611+20C>A)
| gnomAD v4 |
| 17 | g.63971703T>A | CA2270175479 | SCN4A | c.611+19A>T (n.611+19A>T)
| dbSNP gnomAD v4 |
| 17 | g.63971703T>C | CA8710102 | SCN4A | c.611+19A>G (n.611+19A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971703T= | CA2270175478 | SCN4A | c.611+19A= (n.611+19A=)
| |
| 17 | g.63971704C>T | CA2639327485 | SCN4A | c.611+18G>A (n.611+18G>A)
| gnomAD v4 |
| 17 | g.63971705C>A | CA2639327486 | SCN4A | c.611+17G>T (n.611+17G>T)
| gnomAD v4 |
| 17 | g.63971706T>A | CA2639327491 | SCN4A | c.611+16A>T (n.611+16A>T)
| gnomAD v4 |
| 17 | g.63971706T>C | CA2270175481 | SCN4A | c.611+16A>G (n.611+16A>G)
| dbSNP |
| 17 | g.63971706T= | CA2270175480 | SCN4A | c.611+16A= (n.611+16A=)
| |
| 17 | g.63971707G>A | CA627150681 | SCN4A | c.611+15C>T (n.611+15C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971707G= | CA2270175482 | SCN4A | c.611+15C= (n.611+15C=)
| |
| 17 | g.63971707G>T | CA2639327495 | SCN4A | c.611+15C>A (n.611+15C>A)
| gnomAD v4 |
| 17 | g.63971708G>A | CA8710103 | SCN4A | c.611+14C>T (n.611+14C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971708G= | CA2270175483 | SCN4A | c.611+14C= (n.611+14C=)
| |
| 17 | g.63971708G>T | CA2639327497 | SCN4A | c.611+14C>A (n.611+14C>A)
| gnomAD v4 |
| 17 | g.63971709G>A | CA627150682 | SCN4A | c.611+13C>T (n.611+13C>T)
| dbSNP gnomAD v2 |
| 17 | g.63971709G= | CA2270175484 | SCN4A | c.611+13C= (n.611+13C=)
| |
| 17 | g.63971709G>T | CA2639327500 | SCN4A | c.611+13C>A (n.611+13C>A)
| gnomAD v4 |
| 17 | g.63971710G>A | CA2740093879 | SCN4A | c.611+12C>T (n.611+12C>T)
| ClinVar |
| 17 | g.63971710G>T | CA2639327504 | SCN4A | c.611+12C>A (n.611+12C>A)
| gnomAD v4 |
| 17 | g.63971710_63971711delinsGC | CA2270175485 | SCN4A | c.611+11_611+12delinsGC (n.611+11_611+12delinsGC)
| |
| 17 | g.63971711C>A | CA2639327507 | SCN4A | c.611+11G>T (n.611+11G>T)
| gnomAD v4 |
| 17 | g.63971711C>T | CA2639327506 | SCN4A | c.611+11G>A (n.611+11G>A)
| gnomAD v4 |
| 17 | g.63971714del | CA292972672 | SCN4A | c.611+11del (n.611+11del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971712C>A | CA2639327509 | SCN4A | c.611+10G>T (n.611+10G>T)
| gnomAD v4 |
| 17 | g.63971712C>T | CA2639327510 | SCN4A | c.611+10G>A (n.611+10G>A)
| gnomAD v4 |
| 17 | g.63971713C>A | CA627150683 | SCN4A | c.611+9G>T (n.611+9G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971713C= | CA2270175487 | SCN4A | c.611+9G= (n.611+9G=)
| |
| 17 | g.63971713C>G | CA2270175486 | SCN4A | c.611+9G>C (n.611+9G>C)
| dbSNP |
| 17 | g.63971713C>T | CA292972674 | SCN4A | c.611+9G>A (n.611+9G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971714C>A | CA2639327514 | SCN4A | c.611+8G>T (n.611+8G>T)
| gnomAD v4 |
| 17 | g.63971715T>C | CA2639327517 | SCN4A | c.611+7A>G (n.611+7A>G)
| gnomAD v4 |
| 17 | g.63971715_63971719delinsGGTT | CA2580094625 | SCN4A | c.611+3_611+7delinsAACC (n.611+3_611+7delinsAACC)
| ClinVar |
| 17 | g.63971716G>A | CA2639327521 | SCN4A | c.611+6C>T (n.611+6C>T)
| gnomAD v4 |
| 17 | g.63971716G>C | CA292972676 | SCN4A | c.611+6C>G (n.611+6C>G)
| dbSNP gnomAD v2 |
| 17 | g.63971716G= | CA2270175489 | SCN4A | c.611+6C= (n.611+6C=)
| |
| 17 | g.63971716G>T | CA2270175488 | SCN4A | c.611+6C>A (n.611+6C>A)
| dbSNP gnomAD v4 |
| 17 | g.63971717C>A | CA2639327522 | SCN4A | c.611+5G>T (n.611+5G>T)
| gnomAD v4 |
| 17 | g.63971717C>T | CA2639327523 | SCN4A | c.611+5G>A (n.611+5G>A)
| gnomAD v4 |
| 17 | g.63971719C>A | CA627150684 | SCN4A | c.611+3G>T (n.611+3G>T)
| dbSNP gnomAD v2 |
| 17 | g.63971719C= | CA2270175490 | SCN4A | c.611+3G= (n.611+3G=)
| |
| 17 | g.63971719C>T | CA2639327524 | SCN4A | c.611+3G>A (n.611+3G>A)
| gnomAD v4 |
| 17 | g.63971720A>C | CA400638819 | SCN4A | c.611+2T>G (n.611+2T>G)
| |
| 17 | g.63971720A>G | CA400638815 | SCN4A | c.611+2T>C (n.611+2T>C)
| |
| 17 | g.63971720A>T | CA400638817 | SCN4A | c.611+2T>A (n.611+2T>A)
| |
| 17 | g.63971721C>A | CA400638821 | SCN4A | c.611+1G>T (n.611+1G>T)
| |
| 17 | g.63971721C= | CA2270175491 | SCN4A | c.611+1G= (n.611+1G=)
| |
| 17 | g.63971721C>G | CA400638823 | SCN4A | c.611+1G>C (n.611+1G>C)
| |
| 17 | g.63971721C>T | CA400638825 | SCN4A | c.611+1G>A (n.611+1G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971722G>A | CA8710104 | SCN4A | c.611C>T (p.Ala204Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63971722G>C | CA400638828 | SCN4A | c.611C>G (p.Ala204Gly)
| |
| 17 | g.63971722G= | CA2270175492 | SCN4A | c.611C= (p.Ala204=)
| |
| 17 | g.63971722G>T | CA400638830 | SCN4A | c.611C>A (p.Ala204Glu)
| gnomAD v4 |
| 17 | g.63971723C>A | CA400638831 | SCN4A | c.610G>T (p.Ala204Ser)
| |
| 17 | g.63971723C= | CA2270175493 | SCN4A | c.610G= (p.Ala204=)
| |
| 17 | g.63971723C>G | CA400638833 | SCN4A | c.610G>C (p.Ala204Pro)
| gnomAD v4 |
| 17 | g.63971723C>T | CA400638834 | SCN4A | c.610G>A (p.Ala204Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971724C>A | CA400638837 | SCN4A | c.609G>T (p.Met203Ile)
| gnomAD v4 |
| 17 | g.63971724C>G | CA400638838 | SCN4A | c.609G>C (p.Met203Ile)
| |
| 17 | g.63971724C>T | CA400638840 | SCN4A | c.609G>A (p.Met203Ile)
| |
| 17 | g.63971725A= | CA2270175494 | SCN4A | c.608T= (p.Met203=)
| |
| 17 | g.63971725A>C | CA400638843 | SCN4A | c.608T>G (p.Met203Arg)
| |
| 17 | g.63971725A>G | CA400638845 | SCN4A | c.608T>C (p.Met203Thr)
| |
| 17 | g.63971725A>T | CA292972679 | SCN4A | c.608T>A (p.Met203Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971726T>A | CA400638850 | SCN4A | c.607A>T (p.Met203Leu)
| |
| 17 | g.63971726T>C | CA400638847 | SCN4A | c.607A>G (p.Met203Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971726T>G | CA400638849 | SCN4A | c.607A>C (p.Met203Leu)
| |
| 17 | g.63971726T= | CA2270175495 | SCN4A | c.607A= (p.Met203=)
| |
| 17 | g.63971727C>A | CA8710105 | SCN4A | c.606G>T (p.Met202Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971727C= | CA2270175496 | SCN4A | c.606G= (p.Met202=)
| |
| 17 | g.63971727C>G | CA400638853 | SCN4A | c.606G>C (p.Met202Ile)
| gnomAD v4 |
| 17 | g.63971727C>T | CA400638855 | SCN4A | c.606G>A (p.Met202Ile)
| gnomAD v4 |
| 17 | g.63971728A= | CA2270175497 | SCN4A | c.605T= (p.Met202=)
| |
| 17 | g.63971728A>C | CA8710106 | SCN4A | c.605T>G (p.Met202Arg)
| ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.63971728A>G | CA400638858 | SCN4A | c.605T>C (p.Met202Thr)
| ClinVar gnomAD v4 |
| 17 | g.63971728A>T | CA400638859 | SCN4A | c.605T>A (p.Met202Lys)
| dbSNP |
| 17 | g.63971729T>A | CA400638861 | SCN4A | c.604A>T (p.Met202Leu)
| |
| 17 | g.63971729T>C | CA8710107 | SCN4A | c.604A>G (p.Met202Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971729T>G | CA8710108 | SCN4A | c.604A>C (p.Met202Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971729T= | CA2270175498 | SCN4A | c.604A= (p.Met202=)
| |
| 17 | g.63971730G>A | CA501226922 | SCN4A | c.603C>T (p.Ile201=)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971730G>C | CA400638865 | SCN4A | c.603C>G (p.Ile201Met)
| |
| 17 | g.63971730G= | CA2270175499 | SCN4A | c.603C= (p.Ile201=)
| |
| 17 | g.63971730G>T | CA501226923 | SCN4A | c.603C>A (p.Ile201=)
| |
| 17 | g.63971731A>C | CA400638871 | SCN4A | c.602T>G (p.Ile201Ser)
| |
| 17 | g.63971731A>G | CA400638868 | SCN4A | c.602T>C (p.Ile201Thr)
| |
| 17 | g.63971731A>T | CA400638869 | SCN4A | c.602T>A (p.Ile201Asn)
| |
| 17 | g.63971732T>A | CA400638873 | SCN4A | c.601A>T (p.Ile201Phe)
| |
| 17 | g.63971732T>C | CA400638874 | SCN4A | c.601A>G (p.Ile201Val)
| gnomAD v4 |
| 17 | g.63971732T>G | CA400638875 | SCN4A | c.601A>C (p.Ile201Leu)
| |
| 17 | g.63971733del | CA2639327551 | SCN4A | c.600del (p.Ile201SerfsTer2)
| gnomAD v4 |
| 17 | g.63971733G>A | CA501226927 | SCN4A | c.600C>T (p.Val200=)
| |
| 17 | g.63971733G>C | CA501226928 | SCN4A | c.600C>G (p.Val200=)
| |
| 17 | g.63971733G= | CA2270175500 | SCN4A | c.600C= (p.Val200=)
| |
| 17 | g.63971733G>T | CA8710109 | SCN4A | c.600C>A (p.Val200=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971734A>C | CA400638878 | SCN4A | c.599T>G (p.Val200Gly)
| |
| 17 | g.63971734A>G | CA400638880 | SCN4A | c.599T>C (p.Val200Ala)
| |
| 17 | g.63971734A>T | CA400638882 | SCN4A | c.599T>A (p.Val200Asp)
| |
| 17 | g.63971735C>A | CA400638883 | SCN4A | c.598G>T (p.Val200Phe)
| |
| 17 | g.63971735C>G | CA400638884 | SCN4A | c.598G>C (p.Val200Leu)
| |
| 17 | g.63971735C>T | CA400638886 | SCN4A | c.598G>A (p.Val200Ile)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.63971736A>C | CA400638888 | SCN4A | c.597T>G (p.Ser199Arg)
| |
| 17 | g.63971736A>G | CA501226929 | SCN4A | c.597T>C (p.Ser199=)
| |
| 17 | g.63971736A>T | CA400638889 | SCN4A | c.597T>A (p.Ser199Arg)
| |
| 17 | g.63971737C>A | CA400638895 | SCN4A | c.596G>T (p.Ser199Ile)
| gnomAD v4 |
| 17 | g.63971737C>G | CA400638893 | SCN4A | c.596G>C (p.Ser199Thr)
| |
| 17 | g.63971737C>T | CA400638891 | SCN4A | c.596G>A (p.Ser199Asn)
| |
| 17 | g.63971738T>A | CA400638899 | SCN4A | c.595A>T (p.Ser199Cys)
| gnomAD v4 |
| 17 | g.63971738T>C | CA400638896 | SCN4A | c.595A>G (p.Ser199Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971738T>G | CA400638897 | SCN4A | c.595A>C (p.Ser199Arg)
| |
| 17 | g.63971738T= | CA2270175501 | SCN4A | c.595A= (p.Ser199=)
| |
| 17 | g.63971739G>A | CA501226933 | SCN4A | c.594C>T (p.Phe198=)
| |
| 17 | g.63971739G>C | CA400638901 | SCN4A | c.594C>G (p.Phe198Leu)
| |
| 17 | g.63971739G>T | CA400638903 | SCN4A | c.594C>A (p.Phe198Leu)
| |
| 17 | g.63971740A>C | CA400638905 | SCN4A | c.593T>G (p.Phe198Cys)
| |
| 17 | g.63971740A>G | CA400638907 | SCN4A | c.593T>C (p.Phe198Ser)
| |
| 17 | g.63971740A>T | CA400638908 | SCN4A | c.593T>A (p.Phe198Tyr)
| |
| 17 | g.63971741A= | CA2270175502 | SCN4A | c.592T= (p.Phe198=)
| |
| 17 | g.63971741A>C | CA400638909 | SCN4A | c.592T>G (p.Phe198Val)
| |
| 17 | g.63971741A>G | CA400638910 | SCN4A | c.592T>C (p.Phe198Leu)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.63971741A>T | CA400638912 | SCN4A | c.592T>A (p.Phe198Ile)
| |
| 17 | g.63971742G>A | CA501226937 | SCN4A | c.591C>T (p.Asp197=)
| COSMIC |
| 17 | g.63971742G>C | CA400638914 | SCN4A | c.591C>G (p.Asp197Glu)
| |
| 17 | g.63971742G>T | CA400638916 | SCN4A | c.591C>A (p.Asp197Glu)
| |
| 17 | g.63971743T>A | CA400638920 | SCN4A | c.590A>T (p.Asp197Val)
| |
| 17 | g.63971743T>C | CA400638922 | SCN4A | c.590A>G (p.Asp197Gly)
| dbSNP gnomAD v4 |
| 17 | g.63971743T>G | CA400638918 | SCN4A | c.590A>C (p.Asp197Ala)
| |
| 17 | g.63971743T= | CA2270175503 | SCN4A | c.590A= (p.Asp197=)
| |
| 17 | g.63971744C>A | CA400638924 | SCN4A | c.589G>T (p.Asp197Tyr)
| |
| 17 | g.63971744C= | CA2270175504 | SCN4A | c.589G= (p.Asp197=)
| |
| 17 | g.63971744C>G | CA400638926 | SCN4A | c.589G>C (p.Asp197His)
| |
| 17 | g.63971744C>T | CA400638928 | SCN4A | c.589G>A (p.Asp197Asn)
| dbSNP gnomAD v2 COSMIC |
| 17 | g.63971745C>A | CA501226942 | SCN4A | c.588G>T (p.Leu196=)
| gnomAD v4 |
| 17 | g.63971745C= | CA2270175505 | SCN4A | c.588G= (p.Leu196=)
| |
| 17 | g.63971745C>G | CA501226944 | SCN4A | c.588G>C (p.Leu196=)
| |
| 17 | g.63971745C>T | CA501226943 | SCN4A | c.588G>A (p.Leu196=)
| dbSNP |
| 17 | g.63971746A>C | CA400638929 | SCN4A | c.587T>G (p.Leu196Arg)
| |
| 17 | g.63971746A>G | CA400638931 | SCN4A | c.587T>C (p.Leu196Pro)
| |
| 17 | g.63971746A>T | CA400638933 | SCN4A | c.587T>A (p.Leu196Gln)
| |
| 17 | g.63971747G>A | CA501226946 | SCN4A | c.586C>T (p.Leu196=)
| |
| 17 | g.63971747G>C | CA400638935 | SCN4A | c.586C>G (p.Leu196Val)
| |
| 17 | g.63971747G>T | CA400638936 | SCN4A | c.586C>A (p.Leu196Met)
| |
| 17 | g.63971748C>A | CA400638939 | SCN4A | c.585G>T (p.Trp195Cys)
| |
| 17 | g.63971748C= | CA2270175506 | SCN4A | c.585G= (p.Trp195=)
| |
| 17 | g.63971748C>G | CA400638941 | SCN4A | c.585G>C (p.Trp195Cys)
| |
| 17 | g.63971748C>T | CA8710110 | SCN4A | c.585G>A (p.Trp195Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971749C>A | CA400638944 | SCN4A | c.584G>T (p.Trp195Leu)
| |
| 17 | g.63971749C= | CA2270175507 | SCN4A | c.584G= (p.Trp195=)
| |
| 17 | g.63971749C>G | CA400638946 | SCN4A | c.584G>C (p.Trp195Ser)
| |
| 17 | g.63971749C>T | CA400638948 | SCN4A | c.584G>A (p.Trp195Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971750A>C | CA400638952 | SCN4A | c.583T>G (p.Trp195Gly)
| |
| 17 | g.63971750A>G | CA400638954 | SCN4A | c.583T>C (p.Trp195Arg)
| |
| 17 | g.63971750A>T | CA400638950 | SCN4A | c.583T>A (p.Trp195Arg)
| |
| 17 | g.63971751G>A | CA501226950 | SCN4A | c.582C>T (p.Asn194=)
| dbSNP gnomAD v2 |
| 17 | g.63971751G>C | CA400638956 | SCN4A | c.582C>G (p.Asn194Lys)
| gnomAD v4 |
| 17 | g.63971751G= | CA2270175508 | SCN4A | c.582C= (p.Asn194=)
| |
| 17 | g.63971751G>T | CA400638957 | SCN4A | c.582C>A (p.Asn194Lys)
| |
| 17 | g.63971752T>A | CA400638960 | SCN4A | c.581A>T (p.Asn194Ile)
| |
| 17 | g.63971752T>C | CA400638961 | SCN4A | c.581A>G (p.Asn194Ser)
| |
| 17 | g.63971752T>G | CA400638963 | SCN4A | c.581A>C (p.Asn194Thr)
| |
| 17 | g.63971753T>A | CA400638965 | SCN4A | c.580A>T (p.Asn194Tyr)
| |
| 17 | g.63971753T>C | CA400638967 | SCN4A | c.580A>G (p.Asn194Asp)
| |
| 17 | g.63971753T>G | CA400638969 | SCN4A | c.580A>C (p.Asn194His)
| |
| 17 | g.63971754C>A | CA400638970 | SCN4A | c.579G>T (p.Trp193Cys)
| |
| 17 | g.63971754C= | CA2270175509 | SCN4A | c.579G= (p.Trp193=)
| |
| 17 | g.63971754C>G | CA400638972 | SCN4A | c.579G>C (p.Trp193Cys)
| |
| 17 | g.63971754C>T | CA400638974 | SCN4A | c.579G>A (p.Trp193Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971755C>A | CA400638976 | SCN4A | c.578G>T (p.Trp193Leu)
| |
| 17 | g.63971755C= | CA2270175510 | SCN4A | c.578G= (p.Trp193=)
| |
| 17 | g.63971755C>G | CA400638978 | SCN4A | c.578G>C (p.Trp193Ser)
| |
| 17 | g.63971755C>T | CA8710111 | SCN4A | c.578G>A (p.Trp193Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971756A>C | CA400638985 | SCN4A | c.577T>G (p.Trp193Gly)
| |
| 17 | g.63971756A>G | CA400638981 | SCN4A | c.577T>C (p.Trp193Arg)
| gnomAD v4 |
| 17 | g.63971756A>T | CA400638983 | SCN4A | c.577T>A (p.Trp193Arg)
| |
| 17 | g.63971757G>A | CA501226955 | SCN4A | c.576C>T (p.Pro192=)
| |
| 17 | g.63971757G>C | CA501226957 | SCN4A | c.576C>G (p.Pro192=)
| |
| 17 | g.63971757G>T | CA501226956 | SCN4A | c.576C>A (p.Pro192=)
| gnomAD v4 |
| 17 | g.63971758G>A | CA400638986 | SCN4A | c.575C>T (p.Pro192Leu)
| |
| 17 | g.63971758G>C | CA400638988 | SCN4A | c.575C>G (p.Pro192Arg)
| ClinVar dbSNP |
| 17 | g.63971758G= | CA2270175511 | SCN4A | c.575C= (p.Pro192=)
| |
| 17 | g.63971758G>T | CA400638990 | SCN4A | c.575C>A (p.Pro192His)
| |
| 17 | g.63971759G>A | CA8710112 | SCN4A | c.574C>T (p.Pro192Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971759G>C | CA400638992 | SCN4A | c.574C>G (p.Pro192Ala)
| |
| 17 | g.63971759G= | CA2270175512 | SCN4A | c.574C= (p.Pro192=)
| |
| 17 | g.63971759G>T | CA400638994 | SCN4A | c.574C>A (p.Pro192Thr)
| |
| 17 | g.63971760G>A | CA501226958 | SCN4A | c.573C>T (p.Asp191=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971760G>C | CA400638996 | SCN4A | c.573C>G (p.Asp191Glu)
| |
| 17 | g.63971760G= | CA2270175513 | SCN4A | c.573C= (p.Asp191=)
| |
| 17 | g.63971760G>T | CA400638998 | SCN4A | c.573C>A (p.Asp191Glu)
| |
| 17 | g.63971761T>A | CA400638999 | SCN4A | c.572A>T (p.Asp191Val)
| |
| 17 | g.63971761T>C | CA400639001 | SCN4A | c.572A>G (p.Asp191Gly)
| |
| 17 | g.63971761T>G | CA400639003 | SCN4A | c.572A>C (p.Asp191Ala)
| gnomAD v4 |
| 17 | g.63971762C>A | CA400639007 | SCN4A | c.571G>T (p.Asp191Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63971762C= | CA2270175514 | SCN4A | c.571G= (p.Asp191=)
| |
| 17 | g.63971762C>G | CA400639009 | SCN4A | c.571G>C (p.Asp191His)
| |
| 17 | g.63971762C>T | CA400639005 | SCN4A | c.571G>A (p.Asp191Asn)
| |
| 17 | g.63971763C>A | CA501226960 | SCN4A | c.570G>T (p.Arg190=)
| |
| 17 | g.63971763C>G | CA501226962 | SCN4A | c.570G>C (p.Arg190=)
| |
| 17 | g.63971763C>T | CA501226964 | SCN4A | c.570G>A (p.Arg190=)
| |
| 17 | g.63971764C>A | CA400639011 | SCN4A | c.569G>T (p.Arg190Leu)
| |
| 17 | g.63971764C= | CA2270175515 | SCN4A | c.569G= (p.Arg190=)
| |
| 17 | g.63971764C>G | CA400639013 | SCN4A | c.569G>C (p.Arg190Pro)
| |
| 17 | g.63971764C>T | CA8710113 | SCN4A | c.569G>A (p.Arg190Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971765G>A | CA8710114 | SCN4A | c.568C>T (p.Arg190Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63971765G>C | CA400639016 | SCN4A | c.568C>G (p.Arg190Gly)
| |
| 17 | g.63971765G= | CA2270175516 | SCN4A | c.568C= (p.Arg190=)
| |
| 17 | g.63971765G>T | CA501226966 | SCN4A | c.568C>A (p.Arg190=)
| |
| 17 | g.63971766G>A | CA501226967 | SCN4A | c.567C>T (p.Leu189=)
| gnomAD v4 |
| 17 | g.63971766G>C | CA501226969 | SCN4A | c.567C>G (p.Leu189=)
| |
| 17 | g.63971766G= | CA2270175517 | SCN4A | c.567C= (p.Leu189=)
| |
| 17 | g.63971766G>T | CA8710115 | SCN4A | c.567C>A (p.Leu189=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971767A>C | CA400639018 | SCN4A | c.566T>G (p.Leu189Arg)
| |
| 17 | g.63971767A>G | CA400639019 | SCN4A | c.566T>C (p.Leu189Pro)
| |
| 17 | g.63971767A>T | CA400639021 | SCN4A | c.566T>A (p.Leu189His)
| |
| 17 | g.63971768G>A | CA400639023 | SCN4A | c.565C>T (p.Leu189Phe)
| |
| 17 | g.63971768G>C | CA400639025 | SCN4A | c.565C>G (p.Leu189Val)
| |
| 17 | g.63971768G>T | CA400639027 | SCN4A | c.565C>A (p.Leu189Ile)
| gnomAD v4 |
| 17 | g.63971769G>A | CA8710116 | SCN4A | c.564C>T (p.Phe188=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.63971769G>C | CA400639031 | SCN4A | c.564C>G (p.Phe188Leu)
| |
| 17 | g.63971769G= | CA2270175518 | SCN4A | c.564C= (p.Phe188=)
| |
| 17 | g.63971769G>T | CA400639029 | SCN4A | c.564C>A (p.Phe188Leu)
| dbSNP gnomAD v4 |
| 17 | g.63971770A>C | CA400639033 | SCN4A | c.563T>G (p.Phe188Cys)
| |
| 17 | g.63971770A>G | CA400639035 | SCN4A | c.563T>C (p.Phe188Ser)
| |
| 17 | g.63971770A>T | CA400639037 | SCN4A | c.563T>A (p.Phe188Tyr)
| |
| 17 | g.63971771A>C | CA400639039 | SCN4A | c.562T>G (p.Phe188Val)
| |
| 17 | g.63971771A>G | CA400639041 | SCN4A | c.562T>C (p.Phe188Leu)
| |
| 17 | g.63971771A>T | CA400639042 | SCN4A | c.562T>A (p.Phe188Ile)
| |
| 17 | g.63971772T>A | CA501226974 | SCN4A | c.561A>T (p.Thr187=)
| |
| 17 | g.63971772T>C | CA501226975 | SCN4A | c.561A>G (p.Thr187=)
| |
| 17 | g.63971772T>G | CA501226976 | SCN4A | c.561A>C (p.Thr187=)
| |
| 17 | g.63971773G>A | CA400639045 | SCN4A | c.560C>T (p.Thr187Ile)
| |
| 17 | g.63971773G>C | CA400639048 | SCN4A | c.560C>G (p.Thr187Arg)
| |
| 17 | g.63971773G>T | CA400639046 | SCN4A | c.560C>A (p.Thr187Lys)
| |
| 17 | g.63971774T>A | CA400639050 | SCN4A | c.559A>T (p.Thr187Ser)
| |
| 17 | g.63971774T>C | CA400639051 | SCN4A | c.559A>G (p.Thr187Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971774T>G | CA400639053 | SCN4A | c.559A>C (p.Thr187Pro)
| |
| 17 | g.63971774T= | CA2270175519 | SCN4A | c.559A= (p.Thr187=)
| |
| 17 | g.63971775G>A | CA501226980 | SCN4A | c.558C>T (p.Phe186=)
| |
| 17 | g.63971775G>C | CA400639055 | SCN4A | c.558C>G (p.Phe186Leu)
| |
| 17 | g.63971775G>T | CA400639056 | SCN4A | c.558C>A (p.Phe186Leu)
| |
| 17 | g.63971776A>C | CA400639061 | SCN4A | c.557T>G (p.Phe186Cys)
| |
| 17 | g.63971776A>G | CA400639062 | SCN4A | c.557T>C (p.Phe186Ser)
| |
| 17 | g.63971776A>T | CA400639059 | SCN4A | c.557T>A (p.Phe186Tyr)
| |
| 17 | g.63971777A>C | CA400639067 | SCN4A | c.556T>G (p.Phe186Val)
| gnomAD v4 |
| 17 | g.63971777A>G | CA400639065 | SCN4A | c.556T>C (p.Phe186Leu)
| gnomAD v4 |
| 17 | g.63971777A>T | CA400639068 | SCN4A | c.556T>A (p.Phe186Ile)
| |
| 17 | g.63971778G>A | CA501226982 | SCN4A | c.555C>T (p.Asp185=)
| |
| 17 | g.63971778G>C | CA400639070 | SCN4A | c.555C>G (p.Asp185Glu)
| |
| 17 | g.63971778G>T | CA400639072 | SCN4A | c.555C>A (p.Asp185Glu)
| |
| 17 | g.63971779_63971784del | CA2639327646 | SCN4A | c.550_555del (p.Asp184_Asp185del)
| gnomAD v4 |
| 17 | g.63971779T>A | CA400639074 | SCN4A | c.554A>T (p.Asp185Val)
| ClinVar |
| 17 | g.63971779T>C | CA400639076 | SCN4A | c.554A>G (p.Asp185Gly)
| |
| 17 | g.63971779T>G | CA400639078 | SCN4A | c.554A>C (p.Asp185Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971779T= | CA2270175520 | SCN4A | c.554A= (p.Asp185=)
| |
| 17 | g.63971780C>A | CA400639080 | SCN4A | c.553G>T (p.Asp185Tyr)
| |
| 17 | g.63971780C= | CA2270175521 | SCN4A | c.553G= (p.Asp185=)
| |
| 17 | g.63971780C>G | CA400639081 | SCN4A | c.553G>C (p.Asp185His)
| |
| 17 | g.63971780C>T | CA245096 | SCN4A | c.553G>A (p.Asp185Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63971781G>A | CA8710117 | SCN4A | c.552C>T (p.Asp184=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63971781G>C | CA400639083 | SCN4A | c.552C>G (p.Asp184Glu)
| |
| 17 | g.63971781G= | CA2270175522 | SCN4A | c.552C= (p.Asp184=)
| |
| 17 | g.63971781G>T | CA400639084 | SCN4A | c.552C>A (p.Asp184Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63971782T>A | CA400639088 | SCN4A | c.551A>T (p.Asp184Val)
| |
| 17 | g.63971782T>C | CA8710118 | SCN4A | c.551A>G (p.Asp184Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971782T>G | CA400639086 | SCN4A | c.551A>C (p.Asp184Ala)
| |
| 17 | g.63971782T= | CA2270175523 | SCN4A | c.551A= (p.Asp184=)
| |
| 17 | g.63971783C>A | CA400639090 | SCN4A | c.550G>T (p.Asp184Tyr)
| |
| 17 | g.63971783C= | CA2270175524 | SCN4A | c.550G= (p.Asp184=)
| |
| 17 | g.63971783C>G | CA400639092 | SCN4A | c.550G>C (p.Asp184His)
| |
| 17 | g.63971783C>T | CA292972691 | SCN4A | c.550G>A (p.Asp184Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971784G>A | CA8710120 | SCN4A | c.549C>T (p.Val183=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63971784G>C | CA501226990 | SCN4A | c.549C>G (p.Val183=)
| gnomAD v4 |
| 17 | g.63971784G= | CA2270175525 | SCN4A | c.549C= (p.Val183=)
| |
| 17 | g.63971784G>T | CA8710119 | SCN4A | c.549C>A (p.Val183=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63971785A= | CA2270175526 | SCN4A | c.548T= (p.Val183=)
| |
| 17 | g.63971785A>C | CA400639094 | SCN4A | c.548T>G (p.Val183Gly)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.63971785A>G | CA400639095 | SCN4A | c.548T>C (p.Val183Ala)
| |
| 17 | g.63971785A>T | CA400639097 | SCN4A | c.548T>A (p.Val183Asp)
| |
