17 | g.63940974C>A | CA400612915 | SCN4A | c.5308G>T (p.Gly1770Trp)
| |
17 | g.63940974C= | CA2270160695 | SCN4A | c.5308G= (p.Gly1770=)
| |
17 | g.63940974C>G | CA400612916 | SCN4A | c.5308G>C (p.Gly1770Arg)
| |
17 | g.63940974C>T | CA400612917 | SCN4A | c.5308G>A (p.Gly1770Arg)
| ClinVar dbSNP |
17 | g.63940975C>A | CA400612918 | SCN4A | c.5307G>T (p.Glu1769Asp)
| |
17 | g.63940975C= | CA2270160696 | SCN4A | c.5307G= (p.Glu1769=)
| |
17 | g.63940975C>G | CA400612919 | SCN4A | c.5307G>C (p.Glu1769Asp)
| |
17 | g.63940975C>T | CA501347805 | SCN4A | c.5307G>A (p.Glu1769=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63940976T>A | CA400612920 | SCN4A | c.5306A>T (p.Glu1769Val)
| |
17 | g.63940976T>C | CA400612921 | SCN4A | c.5306A>G (p.Glu1769Gly)
| |
17 | g.63940976T>G | CA8708784 | SCN4A | c.5306A>C (p.Glu1769Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63940976T= | CA2270160697 | SCN4A | c.5306A= (p.Glu1769=)
| |
17 | g.63940977C>A | CA400612922 | SCN4A | c.5305G>T (p.Glu1769Ter)
| dbSNP |
17 | g.63940977C= | CA2270160698 | SCN4A | c.5305G= (p.Glu1769=)
| |
17 | g.63940977C>G | CA400612923 | SCN4A | c.5305G>C (p.Glu1769Gln)
| |
17 | g.63940977C>T | CA400612924 | SCN4A | c.5305G>A (p.Glu1769Lys)
| gnomAD v4 |
17 | g.63940978C>A | CA400612925 | SCN4A | c.5304G>T (p.Lys1768Asn)
| gnomAD v4 |
17 | g.63940978C>G | CA400612926 | SCN4A | c.5304G>C (p.Lys1768Asn)
| |
17 | g.63940978C>T | CA501347808 | SCN4A | c.5304G>A (p.Lys1768=)
| gnomAD v4 |
17 | g.63940979T>A | CA400612927 | SCN4A | c.5303A>T (p.Lys1768Met)
| |
17 | g.63940979T>C | CA292956267 | SCN4A | c.5303A>G (p.Lys1768Arg)
| dbSNP |
17 | g.63940979T>G | CA400612928 | SCN4A | c.5303A>C (p.Lys1768Thr)
| |
17 | g.63940979T= | CA2270160699 | SCN4A | c.5303A= (p.Lys1768=)
| |
17 | g.63940980T>A | CA400612929 | SCN4A | c.5302A>T (p.Lys1768Ter)
| dbSNP |
17 | g.63940980T>C | CA400612930 | SCN4A | c.5302A>G (p.Lys1768Glu)
| |
17 | g.63940980T>G | CA400612931 | SCN4A | c.5302A>C (p.Lys1768Gln)
| |
17 | g.63940980T= | CA2270160700 | SCN4A | c.5302A= (p.Lys1768=)
| |
17 | g.63940981C>A | CA400612933 | SCN4A | c.5301G>T (p.Glu1767Asp)
| |
17 | g.63940981C>G | CA400612932 | SCN4A | c.5301G>C (p.Glu1767Asp)
| |
17 | g.63940981C>T | CA501347813 | SCN4A | c.5301G>A (p.Glu1767=)
| |
17 | g.63940982T>A | CA400612936 | SCN4A | c.5300A>T (p.Glu1767Val)
| |
17 | g.63940982T>C | CA400612938 | SCN4A | c.5300A>G (p.Glu1767Gly)
| |
17 | g.63940982T>G | CA400612940 | SCN4A | c.5300A>C (p.Glu1767Ala)
| |
17 | g.63940983C>A | CA400612942 | SCN4A | c.5299G>T (p.Glu1767Ter)
| dbSNP |
17 | g.63940983C= | CA2270160701 | SCN4A | c.5299G= (p.Glu1767=)
| |
17 | g.63940983C>G | CA400612944 | SCN4A | c.5299G>C (p.Glu1767Gln)
| |
17 | g.63940983C>T | CA400612946 | SCN4A | c.5299G>A (p.Glu1767Lys)
| |
17 | g.63940984A>C | CA501347816 | SCN4A | c.5298T>G (p.Pro1766=)
| |
17 | g.63940984A>G | CA501347817 | SCN4A | c.5298T>C (p.Pro1766=)
| ClinVar gnomAD v4 |
17 | g.63940984A>T | CA501347818 | SCN4A | c.5298T>A (p.Pro1766=)
| |
17 | g.63940984_63940985delinsAG | CA2270160702 | SCN4A | c.5297_5298delinsCT (p.Pro1766=)
| |
17 | g.63940985G>A | CA8708786 | SCN4A | c.5297C>T (p.Pro1766Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63940985G>C | CA400612951 | SCN4A | c.5297C>G (p.Pro1766Arg)
| |
17 | g.63940985G= | CA2270160703 | SCN4A | c.5297C= (p.Pro1766=)
| |
17 | g.63940985G>T | CA400612953 | SCN4A | c.5297C>A (p.Pro1766His)
| |
17 | g.63940988dup | CA2838851099 | SCN4A | c.5297dup (p.Glu1767Ter)
| |
17 | g.63940988del | CA8708785 | SCN4A | c.5297del (p.Pro1766LeufsTer11)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63940986G>A | CA400612958 | SCN4A | c.5296C>T (p.Pro1766Ser)
| gnomAD v4 |
17 | g.63940986G>C | CA400612960 | SCN4A | c.5296C>G (p.Pro1766Ala)
| dbSNP gnomAD v4 |
17 | g.63940986G= | CA2270160704 | SCN4A | c.5296C= (p.Pro1766=)
| |
17 | g.63940986G>T | CA400612962 | SCN4A | c.5296C>A (p.Pro1766Thr)
| |
17 | g.63940987G>A | CA501347824 | SCN4A | c.5295C>T (p.Ala1765=)
| |
17 | g.63940987G>C | CA501347825 | SCN4A | c.5295C>G (p.Ala1765=)
| |
17 | g.63940987G>T | CA501347827 | SCN4A | c.5295C>A (p.Ala1765=)
| |
17 | g.63940988G>A | CA400612966 | SCN4A | c.5294C>T (p.Ala1765Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63940988G>C | CA10646441 | SCN4A | c.5294C>G (p.Ala1765Gly)
| ClinVar dbSNP |
17 | g.63940988G= | CA2270160705 | SCN4A | c.5294C= (p.Ala1765=)
| |
17 | g.63940988G>T | CA8708787 | SCN4A | c.5294C>A (p.Ala1765Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63940989C>A | CA400612968 | SCN4A | c.5293G>T (p.Ala1765Ser)
| gnomAD v4 |
17 | g.63940989C= | CA2270160706 | SCN4A | c.5293G= (p.Ala1765=)
| |
17 | g.63940989C>G | CA400612970 | SCN4A | c.5293G>C (p.Ala1765Pro)
| |
17 | g.63940989C>T | CA8708788 | SCN4A | c.5293G>A (p.Ala1765Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63940990G>A | CA8708789 | SCN4A | c.5292C>T (p.Asp1764=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63940990G>C | CA400612978 | SCN4A | c.5292C>G (p.Asp1764Glu)
| |
17 | g.63940990G= | CA2270160707 | SCN4A | c.5292C= (p.Asp1764=)
| |
17 | g.63940990G>T | CA400612981 | SCN4A | c.5292C>A (p.Asp1764Glu)
| |
17 | g.63940991T>A | CA400612984 | SCN4A | c.5291A>T (p.Asp1764Val)
| |
17 | g.63940991T>C | CA400612988 | SCN4A | c.5291A>G (p.Asp1764Gly)
| ClinVar dbSNP gnomAD v4 |
17 | g.63940991T>G | CA400612985 | SCN4A | c.5291A>C (p.Asp1764Ala)
| |
17 | g.63940991T= | CA2270160708 | SCN4A | c.5291A= (p.Asp1764=)
| |
17 | g.63940992C>A | CA400612990 | SCN4A | c.5290G>T (p.Asp1764Tyr)
| |
17 | g.63940992C>G | CA400612992 | SCN4A | c.5290G>C (p.Asp1764His)
| |
17 | g.63940992C>T | CA400612994 | SCN4A | c.5290G>A (p.Asp1764Asn)
| ClinVar dbSNP gnomAD v4 |
17 | g.63940992_63940993del | CA645580707 | SCN4A | c.5289_5290del (p.Asp1763GlufsTer4)
| COSMIC |
17 | g.63940993A>C | CA400612996 | SCN4A | c.5289T>G (p.Asp1763Glu)
| |
17 | g.63940993A>G | CA501347838 | SCN4A | c.5289T>C (p.Asp1763=)
| dbSNP |
17 | g.63940993A>T | CA400612999 | SCN4A | c.5289T>A (p.Asp1763Glu)
| |
17 | g.63940994T>A | CA400613004 | SCN4A | c.5288A>T (p.Asp1763Val)
| |
17 | g.63940994T>C | CA400613006 | SCN4A | c.5288A>G (p.Asp1763Gly)
| |
17 | g.63940994T>G | CA400613001 | SCN4A | c.5288A>C (p.Asp1763Ala)
| |
17 | g.63940994dup | CA2838479738 | SCN4A | c.5288dup (p.Asp1763GlufsTer2)
| |
17 | g.63940995C>A | CA400613008 | SCN4A | c.5287G>T (p.Asp1763Tyr)
| |
17 | g.63940995C>G | CA400613010 | SCN4A | c.5287G>C (p.Asp1763His)
| |
17 | g.63940995C>T | CA400613013 | SCN4A | c.5287G>A (p.Asp1763Asn)
| |
17 | g.63940996C>A | CA501347844 | SCN4A | c.5286G>T (p.Gly1762=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.63940996C= | CA2270160709 | SCN4A | c.5286G= (p.Gly1762=)
| |
17 | g.63940996C>G | CA501347846 | SCN4A | c.5286G>C (p.Gly1762=)
| ClinVar dbSNP |
17 | g.63940996C>T | CA501347845 | SCN4A | c.5286G>A (p.Gly1762=)
| gnomAD v4 |
17 | g.63940997C>A | CA400613016 | SCN4A | c.5285G>T (p.Gly1762Val)
| |
17 | g.63940997C= | CA2270160710 | SCN4A | c.5285G= (p.Gly1762=)
| |
17 | g.63940997C>G | CA400613018 | SCN4A | c.5285G>C (p.Gly1762Ala)
| gnomAD v4 |
17 | g.63940997C>T | CA400613020 | SCN4A | c.5285G>A (p.Gly1762Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63940998C>A | CA400613027 | SCN4A | c.5284G>T (p.Gly1762Trp)
| |
17 | g.63940998C= | CA2270160711 | SCN4A | c.5284G= (p.Gly1762=)
| |
17 | g.63940998C>G | CA400613025 | SCN4A | c.5284G>C (p.Gly1762Arg)
| |
17 | g.63940998C>T | CA8708790 | SCN4A | c.5284G>A (p.Gly1762Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63940999G>A | CA8708791 | SCN4A | c.5283C>T (p.Ser1761=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63940999G>C | CA400613031 | SCN4A | c.5283C>G (p.Ser1761Arg)
| |
17 | g.63940999G= | CA2270160712 | SCN4A | c.5283C= (p.Ser1761=)
| |
17 | g.63940999G>T | CA400613033 | SCN4A | c.5283C>A (p.Ser1761Arg)
| |
17 | g.63940999dup | CA2839892163 | SCN4A | c.5283dup (p.Gly1762ArgfsTer3)
| |
17 | g.63941000C>A | CA400613036 | SCN4A | c.5282G>T (p.Ser1761Ile)
| |
17 | g.63941000C= | CA2270160713 | SCN4A | c.5282G= (p.Ser1761=)
| |
17 | g.63941000C>G | CA400613039 | SCN4A | c.5282G>C (p.Ser1761Thr)
| |
17 | g.63941000C>T | CA400613042 | SCN4A | c.5282G>A (p.Ser1761Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941001T>A | CA400613045 | SCN4A | c.5281A>T (p.Ser1761Cys)
| |
17 | g.63941001T>C | CA400613049 | SCN4A | c.5281A>G (p.Ser1761Gly)
| |
17 | g.63941001T>G | CA400613047 | SCN4A | c.5281A>C (p.Ser1761Arg)
| |
17 | g.63941002G>A | CA501347852 | SCN4A | c.5280C>T (p.Gly1760=)
| |
17 | g.63941002G>C | CA501347853 | SCN4A | c.5280C>G (p.Gly1760=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941002G= | CA2270160714 | SCN4A | c.5280C= (p.Gly1760=)
| |
17 | g.63941002G>T | CA501347854 | SCN4A | c.5280C>A (p.Gly1760=)
| |
17 | g.63941003C>A | CA400613051 | SCN4A | c.5279G>T (p.Gly1760Val)
| gnomAD v4 |
17 | g.63941003C>G | CA400613052 | SCN4A | c.5279G>C (p.Gly1760Ala)
| |
17 | g.63941003C>T | CA400613053 | SCN4A | c.5279G>A (p.Gly1760Asp)
| |
17 | g.63941004C>A | CA400613055 | SCN4A | c.5278G>T (p.Gly1760Cys)
| |
17 | g.63941004C= | CA2270160715 | SCN4A | c.5278G= (p.Gly1760=)
| |
17 | g.63941004C>G | CA400613057 | SCN4A | c.5278G>C (p.Gly1760Arg)
| |
17 | g.63941004C>T | CA8708792 | SCN4A | c.5278G>A (p.Gly1760Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63941005G>A | CA8708793 | SCN4A | c.5277C>T (p.Asp1759=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941005G>C | CA8708794 | SCN4A | c.5277C>G (p.Asp1759Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941005G= | CA2270160716 | SCN4A | c.5277C= (p.Asp1759=)
| |
17 | g.63941005G>T | CA400613062 | SCN4A | c.5277C>A (p.Asp1759Glu)
| |
17 | g.63941006T>A | CA400613065 | SCN4A | c.5276A>T (p.Asp1759Val)
| |
17 | g.63941006T>C | CA400613066 | SCN4A | c.5276A>G (p.Asp1759Gly)
| |
17 | g.63941006T>G | CA400613068 | SCN4A | c.5276A>C (p.Asp1759Ala)
| |
17 | g.63941007C>A | CA292956342 | SCN4A | c.5275G>T (p.Asp1759Tyr)
| dbSNP |
17 | g.63941007C= | CA2270160717 | SCN4A | c.5275G= (p.Asp1759=)
| |
17 | g.63941007C>G | CA400613070 | SCN4A | c.5275G>C (p.Asp1759His)
| |
17 | g.63941007C>T | CA400613072 | SCN4A | c.5275G>A (p.Asp1759Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941008G>A | CA8708795 | SCN4A | c.5274C>T (p.His1758=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941008G>C | CA400613076 | SCN4A | c.5274C>G (p.His1758Gln)
| |
17 | g.63941008G= | CA2270160718 | SCN4A | c.5274C= (p.His1758=)
| |
17 | g.63941008G>T | CA400613078 | SCN4A | c.5274C>A (p.His1758Gln)
| dbSNP |
17 | g.63941009T>A | CA400613081 | SCN4A | c.5273A>T (p.His1758Leu)
| |
17 | g.63941009T>C | CA400613084 | SCN4A | c.5273A>G (p.His1758Arg)
| |
17 | g.63941009T>G | CA400613085 | SCN4A | c.5273A>C (p.His1758Pro)
| |
17 | g.63941010G>A | CA400613091 | SCN4A | c.5272C>T (p.His1758Tyr)
| |
17 | g.63941010G>C | CA400613088 | SCN4A | c.5272C>G (p.His1758Asp)
| gnomAD v4 |
17 | g.63941010G>T | CA400613089 | SCN4A | c.5272C>A (p.His1758Asn)
| |
17 | g.63941011G>A | CA501347871 | SCN4A | c.5271C>T (p.Ser1757=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941011G>C | CA400613094 | SCN4A | c.5271C>G (p.Ser1757Arg)
| |
17 | g.63941011G= | CA2270160719 | SCN4A | c.5271C= (p.Ser1757=)
| |
17 | g.63941011G>T | CA400613096 | SCN4A | c.5271C>A (p.Ser1757Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941012C>A | CA400613099 | SCN4A | c.5270G>T (p.Ser1757Ile)
| |
17 | g.63941012C>G | CA400613102 | SCN4A | c.5270G>C (p.Ser1757Thr)
| |
17 | g.63941012C>T | CA400613104 | SCN4A | c.5270G>A (p.Ser1757Asn)
| gnomAD v4 |
17 | g.63941013T>A | CA400613111 | SCN4A | c.5269A>T (p.Ser1757Cys)
| |
17 | g.63941013T>C | CA400613106 | SCN4A | c.5269A>G (p.Ser1757Gly)
| |
17 | g.63941013T>G | CA400613108 | SCN4A | c.5269A>C (p.Ser1757Arg)
| |
17 | g.63941013T= | CA2270160720 | SCN4A | c.5269A= (p.Ser1757=)
| |
17 | g.63941014G>A | CA501347880 | SCN4A | c.5268C>T (p.His1756=)
| |
17 | g.63941014G>C | CA400613115 | SCN4A | c.5268C>G (p.His1756Gln)
| |
17 | g.63941014G>T | CA400613117 | SCN4A | c.5268C>A (p.His1756Gln)
| COSMIC |
17 | g.63941014_63941015insGGGGG | CA292956347 | SCN4A | c.5268_5269insCCCCC (p.Ser1757ProfsTer22)
| dbSNP |
17 | g.63941015T>A | CA400613121 | SCN4A | c.5267A>T (p.His1756Leu)
| |
17 | g.63941015T>C | CA400613123 | SCN4A | c.5267A>G (p.His1756Arg)
| |
17 | g.63941015T>G | CA8708796 | SCN4A | c.5267A>C (p.His1756Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941015T= | CA2270160721 | SCN4A | c.5267A= (p.His1756=)
| |
17 | g.63941016G>A | CA400613127 | SCN4A | c.5266C>T (p.His1756Tyr)
| |
17 | g.63941016G>C | CA400613129 | SCN4A | c.5266C>G (p.His1756Asp)
| |
17 | g.63941016G>T | CA400613131 | SCN4A | c.5266C>A (p.His1756Asn)
| |
17 | g.63941017G>A | CA501347889 | SCN4A | c.5265C>T (p.Arg1755=)
| |
17 | g.63941017G>C | CA501347891 | SCN4A | c.5265C>G (p.Arg1755=)
| |
17 | g.63941017G= | CA2270160722 | SCN4A | c.5265C= (p.Arg1755=)
| |
17 | g.63941017G>T | CA501347895 | SCN4A | c.5265C>A (p.Arg1755=)
| dbSNP |
17 | g.63941018C>A | CA400613134 | SCN4A | c.5264G>T (p.Arg1755Leu)
| ClinVar gnomAD v4 |
17 | g.63941018C= | CA2270160723 | SCN4A | c.5264G= (p.Arg1755=)
| |
17 | g.63941018C>G | CA8708797 | SCN4A | c.5264G>C (p.Arg1755Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941018C>T | CA8708798 | SCN4A | c.5264G>A (p.Arg1755His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941019G>A | CA8708799 | SCN4A | c.5263C>T (p.Arg1755Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941019G>C | CA400613142 | SCN4A | c.5263C>G (p.Arg1755Gly)
| |
17 | g.63941019G= | CA2270160724 | SCN4A | c.5263C= (p.Arg1755=)
| |
17 | g.63941019G>T | CA400613140 | SCN4A | c.5263C>A (p.Arg1755Ser)
| |
17 | g.63941020G>A | CA501347903 | SCN4A | c.5262C>T (p.Tyr1754=)
| gnomAD v4 |
17 | g.63941020G>C | CA400613145 | SCN4A | c.5262C>G (p.Tyr1754Ter)
| |
17 | g.63941020G>T | CA400613147 | SCN4A | c.5262C>A (p.Tyr1754Ter)
| |
17 | g.63941020_63941025delinsGTACAT | CA2270160725 | SCN4A | c.5257_5262delinsATGTAC (p.Met1753=)
| |
17 | g.63941021T>A | CA400613150 | SCN4A | c.5261A>T (p.Tyr1754Phe)
| |
17 | g.63941021T>C | CA400613152 | SCN4A | c.5261A>G (p.Tyr1754Cys)
| |
17 | g.63941021T>G | CA400613155 | SCN4A | c.5261A>C (p.Tyr1754Ser)
| dbSNP |
17 | g.63941021T= | CA2270160726 | SCN4A | c.5261A= (p.Tyr1754=)
| |
17 | g.63941021_63941025del | CA919876629 | SCN4A | c.5257_5261del (p.Met1753ProfsTer10)
| dbSNP |
17 | g.63941022A>C | CA400613157 | SCN4A | c.5260T>G (p.Tyr1754Asp)
| |
17 | g.63941022A>G | CA400613159 | SCN4A | c.5260T>C (p.Tyr1754His)
| |
17 | g.63941022A>T | CA400613161 | SCN4A | c.5260T>A (p.Tyr1754Asn)
| |
17 | g.63941023C>A | CA400613164 | SCN4A | c.5259G>T (p.Met1753Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941023C= | CA2270160727 | SCN4A | c.5259G= (p.Met1753=)
| |
17 | g.63941023C>G | CA400613165 | SCN4A | c.5259G>C (p.Met1753Ile)
| |
17 | g.63941023C>T | CA400613167 | SCN4A | c.5259G>A (p.Met1753Ile)
| |
17 | g.63941024A= | CA2270160729 | SCN4A | c.5258T= (p.Met1753=)
| |
17 | g.63941024A>C | CA400613171 | SCN4A | c.5258T>G (p.Met1753Arg)
| |
17 | g.63941024A>G | CA400613173 | SCN4A | c.5258T>C (p.Met1753Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941024A>T | CA400613176 | SCN4A | c.5258T>A (p.Met1753Lys)
| |
17 | g.63941024_63941025delinsAT | CA2270160728 | SCN4A | c.5257_5258delinsAT (p.Met1753=)
| |
17 | g.63941025del | CA919876630 | SCN4A | c.5257del (p.Met1753CysfsTer24)
| dbSNP |
17 | g.63941025T>A | CA400613183 | SCN4A | c.5257A>T (p.Met1753Leu)
| |
17 | g.63941025T>C | CA400613178 | SCN4A | c.5257A>G (p.Met1753Val)
| gnomAD v4 |
17 | g.63941025T>G | CA400613181 | SCN4A | c.5257A>C (p.Met1753Leu)
| gnomAD v4 |
17 | g.63941026G>A | CA501347915 | SCN4A | c.5256C>T (p.Tyr1752=)
| |
17 | g.63941026G>C | CA400613186 | SCN4A | c.5256C>G (p.Tyr1752Ter)
| |
17 | g.63941026G>T | CA400613188 | SCN4A | c.5256C>A (p.Tyr1752Ter)
| |
17 | g.63941026_63941028delinsGTA | CA2270160730 | SCN4A | c.5254_5256delinsTAC (p.Tyr1752=)
| |
17 | g.63941027T>A | CA400613189 | SCN4A | c.5255A>T (p.Tyr1752Phe)
| |
17 | g.63941027T>C | CA400613191 | SCN4A | c.5255A>G (p.Tyr1752Cys)
| gnomAD v4 |
17 | g.63941027T>G | CA400613193 | SCN4A | c.5255A>C (p.Tyr1752Ser)
| |
17 | g.63941027_63941028del | CA919876633 | SCN4A | c.5254_5255del (p.Tyr1752HisfsTer12)
| dbSNP |
17 | g.63941028A>C | CA400613197 | SCN4A | c.5254T>G (p.Tyr1752Asp)
| |
17 | g.63941028A>G | CA400613199 | SCN4A | c.5254T>C (p.Tyr1752His)
| ClinVar |
17 | g.63941028A>T | CA400613201 | SCN4A | c.5254T>A (p.Tyr1752Asn)
| |
17 | g.63941029G>A | CA501347926 | SCN4A | c.5253C>T (p.Ser1751=)
| |
17 | g.63941029G>C | CA501347924 | SCN4A | c.5253C>G (p.Ser1751=)
| |
17 | g.63941029G>T | CA501347922 | SCN4A | c.5253C>A (p.Ser1751=)
| |
17 | g.63941030G>A | CA400613204 | SCN4A | c.5252C>T (p.Ser1751Phe)
| |
17 | g.63941030G>C | CA400613207 | SCN4A | c.5252C>G (p.Ser1751Cys)
| |
17 | g.63941030G>T | CA400613208 | SCN4A | c.5252C>A (p.Ser1751Tyr)
| |
17 | g.63941031A= | CA2270160731 | SCN4A | c.5251T= (p.Ser1751=)
| |
17 | g.63941031A>C | CA8708801 | SCN4A | c.5251T>G (p.Ser1751Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941031A>G | CA400613212 | SCN4A | c.5251T>C (p.Ser1751Pro)
| |
17 | g.63941031A>T | CA8708800 | SCN4A | c.5251T>A (p.Ser1751Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941032T>A | CA501347934 | SCN4A | c.5250A>T (p.Ala1750=)
| gnomAD v4 |
17 | g.63941032T>C | CA501347939 | SCN4A | c.5250A>G (p.Ala1750=)
| COSMIC |
17 | g.63941032T>G | CA501347938 | SCN4A | c.5250A>C (p.Ala1750=)
| |
17 | g.63941033G>A | CA8708802 | SCN4A | c.5249C>T (p.Ala1750Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941033G>C | CA400613216 | SCN4A | c.5249C>G (p.Ala1750Gly)
| |
17 | g.63941033G= | CA2270160732 | SCN4A | c.5249C= (p.Ala1750=)
| |
17 | g.63941033G>T | CA400613218 | SCN4A | c.5249C>A (p.Ala1750Glu)
| |
17 | g.63941034C>A | CA400613221 | SCN4A | c.5248G>T (p.Ala1750Ser)
| dbSNP |
17 | g.63941034C= | CA2270160733 | SCN4A | c.5248G= (p.Ala1750=)
| |
17 | g.63941034C>G | CA400613223 | SCN4A | c.5248G>C (p.Ala1750Pro)
| dbSNP |
17 | g.63941034C>T | CA400613225 | SCN4A | c.5248G>A (p.Ala1750Thr)
| ClinVar |
17 | g.63941035C>A | CA400613228 | SCN4A | c.5247G>T (p.Gln1749His)
| |
17 | g.63941035C= | CA2270160734 | SCN4A | c.5247G= (p.Gln1749=)
| |
17 | g.63941035C>G | CA400613230 | SCN4A | c.5247G>C (p.Gln1749His)
| COSMIC |
17 | g.63941035C>T | CA501347947 | SCN4A | c.5247G>A (p.Gln1749=)
| dbSNP |
17 | g.63941036T>A | CA400613233 | SCN4A | c.5246A>T (p.Gln1749Leu)
| |
17 | g.63941036T>C | CA400613236 | SCN4A | c.5246A>G (p.Gln1749Arg)
| |
17 | g.63941036T>G | CA400613238 | SCN4A | c.5246A>C (p.Gln1749Pro)
| |
17 | g.63941037G>A | CA400613241 | SCN4A | c.5245C>T (p.Gln1749Ter)
| |
17 | g.63941037G>C | CA400613243 | SCN4A | c.5245C>G (p.Gln1749Glu)
| |
17 | g.63941037G>T | CA400613245 | SCN4A | c.5245C>A (p.Gln1749Lys)
| |
17 | g.63941038C>A | CA400613248 | SCN4A | c.5244G>T (p.Lys1748Asn)
| |
17 | g.63941038C>G | CA400613250 | SCN4A | c.5244G>C (p.Lys1748Asn)
| gnomAD v4 |
17 | g.63941038C>T | CA501347959 | SCN4A | c.5244G>A (p.Lys1748=)
| |
17 | g.63941039T>A | CA400613253 | SCN4A | c.5243A>T (p.Lys1748Met)
| |
17 | g.63941039T>C | CA400613256 | SCN4A | c.5243A>G (p.Lys1748Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941039T>G | CA400613258 | SCN4A | c.5243A>C (p.Lys1748Thr)
| |
17 | g.63941039T= | CA2270160735 | SCN4A | c.5243A= (p.Lys1748=)
| |
17 | g.63941040T>A | CA400613261 | SCN4A | c.5242A>T (p.Lys1748Ter)
| dbSNP |
17 | g.63941040T>C | CA400613263 | SCN4A | c.5242A>G (p.Lys1748Glu)
| |
17 | g.63941040T>G | CA400613265 | SCN4A | c.5242A>C (p.Lys1748Gln)
| |
17 | g.63941040T= | CA2270160736 | SCN4A | c.5242A= (p.Lys1748=)
| |
17 | g.63941041C>A | CA400613267 | SCN4A | c.5241G>T (p.Met1747Ile)
| |
17 | g.63941041C>G | CA400613270 | SCN4A | c.5241G>C (p.Met1747Ile)
| |
17 | g.63941041C>T | CA400613272 | SCN4A | c.5241G>A (p.Met1747Ile)
| COSMIC |
17 | g.63941042A= | CA2270160737 | SCN4A | c.5240T= (p.Met1747=)
| |
17 | g.63941042A>C | CA400613275 | SCN4A | c.5240T>G (p.Met1747Arg)
| |
17 | g.63941042A>G | CA8708803 | SCN4A | c.5240T>C (p.Met1747Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941042A>T | CA400613278 | SCN4A | c.5240T>A (p.Met1747Lys)
| |
17 | g.63941043T>A | CA400613282 | SCN4A | c.5239A>T (p.Met1747Leu)
| |
17 | g.63941043T>C | CA8708804 | SCN4A | c.5239A>G (p.Met1747Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941043T>G | CA400613284 | SCN4A | c.5239A>C (p.Met1747Leu)
| |
17 | g.63941043T= | CA2270160738 | SCN4A | c.5239A= (p.Met1747=)
| |
17 | g.63941044G>A | CA501347969 | SCN4A | c.5238C>T (p.Ser1746=)
| gnomAD v4 |
17 | g.63941044G>C | CA501347970 | SCN4A | c.5238C>G (p.Ser1746=)
| |
17 | g.63941044G>T | CA501347973 | SCN4A | c.5238C>A (p.Ser1746=)
| |
17 | g.63941045G>A | CA8708805 | SCN4A | c.5237C>T (p.Ser1746Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941045G>C | CA400613292 | SCN4A | c.5237C>G (p.Ser1746Cys)
| |
17 | g.63941045G= | CA2270160739 | SCN4A | c.5237C= (p.Ser1746=)
| |
17 | g.63941045G>T | CA400613290 | SCN4A | c.5237C>A (p.Ser1746Tyr)
| |
17 | g.63941046A= | CA2270160740 | SCN4A | c.5236T= (p.Ser1746=)
| |
17 | g.63941046A>C | CA400613296 | SCN4A | c.5236T>G (p.Ser1746Ala)
| |
17 | g.63941046A>G | CA400613301 | SCN4A | c.5236T>C (p.Ser1746Pro)
| dbSNP gnomAD v4 |
17 | g.63941046A>T | CA400613298 | SCN4A | c.5236T>A (p.Ser1746Thr)
| |
17 | g.63941047G>A | CA501347991 | SCN4A | c.5235C>T (p.Arg1745=)
| dbSNP |
17 | g.63941047G>C | CA501347996 | SCN4A | c.5235C>G (p.Arg1745=)
| |
17 | g.63941047G= | CA2270160741 | SCN4A | c.5235C= (p.Arg1745=)
| |
17 | g.63941047G>T | CA501347998 | SCN4A | c.5235C>A (p.Arg1745=)
| |
17 | g.63941048C>A | CA400613304 | SCN4A | c.5234G>T (p.Arg1745Leu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941048C= | CA2270160742 | SCN4A | c.5234G= (p.Arg1745=)
| |
17 | g.63941048C>G | CA400613306 | SCN4A | c.5234G>C (p.Arg1745Pro)
| |
17 | g.63941048C>T | CA8708806 | SCN4A | c.5234G>A (p.Arg1745His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941049G>A | CA8708807 | SCN4A | c.5233C>T (p.Arg1745Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941049G>C | CA400613311 | SCN4A | c.5233C>G (p.Arg1745Gly)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941049G= | CA2270160743 | SCN4A | c.5233C= (p.Arg1745=)
| |
17 | g.63941049G>T | CA400613313 | SCN4A | c.5233C>A (p.Arg1745Ser)
| |
17 | g.63941050C>A | CA400613318 | SCN4A | c.5232G>T (p.Gln1744His)
| |
17 | g.63941050C= | CA2270160744 | SCN4A | c.5232G= (p.Gln1744=)
| |
17 | g.63941050C>G | CA400613316 | SCN4A | c.5232G>C (p.Gln1744His)
| |
17 | g.63941050C>T | CA292956429 | SCN4A | c.5232G>A (p.Gln1744=)
| dbSNP |
17 | g.63941051T>A | CA8708808 | SCN4A | c.5231A>T (p.Gln1744Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941051T>C | CA400613322 | SCN4A | c.5231A>G (p.Gln1744Arg)
| gnomAD v4 |
17 | g.63941051T>G | CA400613325 | SCN4A | c.5231A>C (p.Gln1744Pro)
| |
17 | g.63941051T= | CA2270160745 | SCN4A | c.5231A= (p.Gln1744=)
| |
17 | g.63941052G>A | CA400613327 | SCN4A | c.5230C>T (p.Gln1744Ter)
| dbSNP |
17 | g.63941052G>C | CA400613330 | SCN4A | c.5230C>G (p.Gln1744Glu)
| |
17 | g.63941052G= | CA2270160746 | SCN4A | c.5230C= (p.Gln1744=)
| |
17 | g.63941052G>T | CA400613332 | SCN4A | c.5230C>A (p.Gln1744Lys)
| |
17 | g.63941053T>A | CA501348016 | SCN4A | c.5229A>T (p.Leu1743=)
| |
17 | g.63941053T>C | CA501348015 | SCN4A | c.5229A>G (p.Leu1743=)
| ClinVar dbSNP COSMIC |
17 | g.63941053T>G | CA501348014 | SCN4A | c.5229A>C (p.Leu1743=)
| |
17 | g.63941053T= | CA2270160747 | SCN4A | c.5229A= (p.Leu1743=)
| |
17 | g.63941054A>C | CA400613335 | SCN4A | c.5228T>G (p.Leu1743Arg)
| |
17 | g.63941054A>G | CA400613338 | SCN4A | c.5228T>C (p.Leu1743Pro)
| gnomAD v4 |
17 | g.63941054A>T | CA400613336 | SCN4A | c.5228T>A (p.Leu1743Gln)
| |
17 | g.63941055G>A | CA8708809 | SCN4A | c.5227C>T (p.Leu1743=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941055G>C | CA400613342 | SCN4A | c.5227C>G (p.Leu1743Val)
| |
17 | g.63941055G= | CA2270160748 | SCN4A | c.5227C= (p.Leu1743=)
| |
17 | g.63941055G>T | CA400613345 | SCN4A | c.5227C>A (p.Leu1743Ile)
| |
17 | g.63941056C>A | CA501348022 | SCN4A | c.5226G>T (p.Leu1742=)
| |
17 | g.63941056C= | CA2270160749 | SCN4A | c.5226G= (p.Leu1742=)
| |
17 | g.63941056C>G | CA501348024 | SCN4A | c.5226G>C (p.Leu1742=)
| gnomAD v4 |
17 | g.63941056C>T | CA501348026 | SCN4A | c.5226G>A (p.Leu1742=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941058_63941096dup | CA2639322252 | SCN4A | c.5188_5226dup (p.Leu1742_Leu1743insCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeu)
| gnomAD v4 |
17 | g.63941057A>C | CA400613348 | SCN4A | c.5225T>G (p.Leu1742Arg)
| |
17 | g.63941057A>G | CA400613350 | SCN4A | c.5225T>C (p.Leu1742Pro)
| |
17 | g.63941057A>T | CA400613352 | SCN4A | c.5225T>A (p.Leu1742Gln)
| |
17 | g.63941058G>A | CA292956434 | SCN4A | c.5224C>T (p.Leu1742=)
| dbSNP |
17 | g.63941058G>C | CA400613355 | SCN4A | c.5224C>G (p.Leu1742Val)
| |
17 | g.63941058G= | CA2270160750 | SCN4A | c.5224C= (p.Leu1742=)
| |
17 | g.63941058G>T | CA400613357 | SCN4A | c.5224C>A (p.Leu1742Met)
| |
17 | g.63941059G>A | CA501348035 | SCN4A | c.5223C>T (p.His1741=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941059G>C | CA400613360 | SCN4A | c.5223C>G (p.His1741Gln)
| |
17 | g.63941059G= | CA2270160751 | SCN4A | c.5223C= (p.His1741=)
| |
17 | g.63941059G>T | CA400613363 | SCN4A | c.5223C>A (p.His1741Gln)
| |
17 | g.63941060T>A | CA400613366 | SCN4A | c.5222A>T (p.His1741Leu)
| |
17 | g.63941060T>C | CA400613370 | SCN4A | c.5222A>G (p.His1741Arg)
| ClinVar |
17 | g.63941060T>G | CA400613368 | SCN4A | c.5222A>C (p.His1741Pro)
| |
17 | g.63941061G>A | CA8708810 | SCN4A | c.5221C>T (p.His1741Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941061G>C | CA400613374 | SCN4A | c.5221C>G (p.His1741Asp)
| |
17 | g.63941061G= | CA2270160752 | SCN4A | c.5221C= (p.His1741=)
| |
17 | g.63941061G>T | CA400613377 | SCN4A | c.5221C>A (p.His1741Asn)
| ClinVar |
17 | g.63941062C>A | CA501348044 | SCN4A | c.5220G>T (p.Arg1740=)
| |
17 | g.63941062C= | CA2270160753 | SCN4A | c.5220G= (p.Arg1740=)
| |
17 | g.63941062C>G | CA501348045 | SCN4A | c.5220G>C (p.Arg1740=)
| |
17 | g.63941062C>T | CA8708811 | SCN4A | c.5220G>A (p.Arg1740=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941063C>A | CA400613380 | SCN4A | c.5219G>T (p.Arg1740Leu)
| |
17 | g.63941063C= | CA2270160754 | SCN4A | c.5219G= (p.Arg1740=)
| |
17 | g.63941063C>G | CA400613382 | SCN4A | c.5219G>C (p.Arg1740Pro)
| |
17 | g.63941063C>T | CA400613385 | SCN4A | c.5219G>A (p.Arg1740Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941064G>A | CA8708812 | SCN4A | c.5218C>T (p.Arg1740Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941064G>C | CA400613389 | SCN4A | c.5218C>G (p.Arg1740Gly)
| |
17 | g.63941064G= | CA2270160755 | SCN4A | c.5218C= (p.Arg1740=)
| |
17 | g.63941064G>T | CA292956442 | SCN4A | c.5218C>A (p.Arg1740=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941065G>A | CA501348055 | SCN4A | c.5217C>T (p.Arg1739=)
| |
17 | g.63941065G>C | CA501348057 | SCN4A | c.5217C>G (p.Arg1739=)
| |
17 | g.63941065G>T | CA501348056 | SCN4A | c.5217C>A (p.Arg1739=)
| |
17 | g.63941066C>A | CA400613398 | SCN4A | c.5216G>T (p.Arg1739Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941066C= | CA2270160756 | SCN4A | c.5216G= (p.Arg1739=)
| |
17 | g.63941066C>G | CA400613396 | SCN4A | c.5216G>C (p.Arg1739Pro)
| |
17 | g.63941066C>T | CA400613394 | SCN4A | c.5216G>A (p.Arg1739His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941067G>A | CA400613401 | SCN4A | c.5215C>T (p.Arg1739Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941067G>C | CA400613403 | SCN4A | c.5215C>G (p.Arg1739Gly)
| |
17 | g.63941067G= | CA2270160757 | SCN4A | c.5215C= (p.Arg1739=)
| |
17 | g.63941067G>T | CA400613406 | SCN4A | c.5215C>A (p.Arg1739Ser)
| |
17 | g.63941068G>A | CA8708813 | SCN4A | c.5214C>T (p.Tyr1738=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941068G>C | CA400613410 | SCN4A | c.5214C>G (p.Tyr1738Ter)
| |
17 | g.63941068G= | CA2270160758 | SCN4A | c.5214C= (p.Tyr1738=)
| |
17 | g.63941068G>T | CA400613413 | SCN4A | c.5214C>A (p.Tyr1738Ter)
| |
17 | g.63941069T>A | CA400613416 | SCN4A | c.5213A>T (p.Tyr1738Phe)
| |
17 | g.63941069T>C | CA400613418 | SCN4A | c.5213A>G (p.Tyr1738Cys)
| gnomAD v4 |
17 | g.63941069T>G | CA400613420 | SCN4A | c.5213A>C (p.Tyr1738Ser)
| |
17 | g.63941070A= | CA2270160759 | SCN4A | c.5212T= (p.Tyr1738=)
| |
17 | g.63941070A>C | CA8708814 | SCN4A | c.5212T>G (p.Tyr1738Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941070A>G | CA400613425 | SCN4A | c.5212T>C (p.Tyr1738His)
| |
17 | g.63941070A>T | CA400613426 | SCN4A | c.5212T>A (p.Tyr1738Asn)
| |
17 | g.63941071G>A | CA501348072 | SCN4A | c.5211C>T (p.Ala1737=)
| gnomAD v4 |
17 | g.63941071G>C | CA501348073 | SCN4A | c.5211C>G (p.Ala1737=)
| |
17 | g.63941071G>T | CA501348074 | SCN4A | c.5211C>A (p.Ala1737=)
| dbSNP gnomAD v4 |
17 | g.63941072G>A | CA8708815 | SCN4A | c.5210C>T (p.Ala1737Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941072G>C | CA400613431 | SCN4A | c.5210C>G (p.Ala1737Gly)
| |
17 | g.63941072G= | CA2270160760 | SCN4A | c.5210C= (p.Ala1737=)
| |
17 | g.63941072G>T | CA400613428 | SCN4A | c.5210C>A (p.Ala1737Asp)
| |
17 | g.63941073C>A | CA400613436 | SCN4A | c.5209G>T (p.Ala1737Ser)
| |
17 | g.63941073C= | CA2270160761 | SCN4A | c.5209G= (p.Ala1737=)
| |
17 | g.63941073C>G | CA400613434 | SCN4A | c.5209G>C (p.Ala1737Pro)
| |
17 | g.63941073C>T | CA8708816 | SCN4A | c.5209G>A (p.Ala1737Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941074C>A | CA400613439 | SCN4A | c.5208G>T (p.Arg1736Ser)
| |
17 | g.63941074C>G | CA400613440 | SCN4A | c.5208G>C (p.Arg1736Ser)
| |
17 | g.63941074C>T | CA501348081 | SCN4A | c.5208G>A (p.Arg1736=)
| ClinVar |