17 | g.63940947T>A | CA8708781 | SCN4A | c.5335A>T (p.Met1779Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63940947T>C | CA400610840 | SCN4A | c.5335A>G (p.Met1779Val)
| |
17 | g.63940947T>G | CA400610842 | SCN4A | c.5335A>C (p.Met1779Leu)
| |
17 | g.63940947T= | CA2270160682 | SCN4A | c.5335A= (p.Met1779=)
| |
17 | g.63940948C>A | CA400610848 | SCN4A | c.5334G>T (p.Lys1778Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63940948C= | CA2270160683 | SCN4A | c.5334G= (p.Lys1778=)
| |
17 | g.63940948C>G | CA400610851 | SCN4A | c.5334G>C (p.Lys1778Asn)
| dbSNP gnomAD v4 |
17 | g.63940948C>T | CA8708782 | SCN4A | c.5334G>A (p.Lys1778=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63940949T>A | CA400610857 | SCN4A | c.5333A>T (p.Lys1778Met)
| |
17 | g.63940949T>C | CA400610864 | SCN4A | c.5333A>G (p.Lys1778Arg)
| |
17 | g.63940949T>G | CA400610862 | SCN4A | c.5333A>C (p.Lys1778Thr)
| |
17 | g.63940950T>A | CA400610867 | SCN4A | c.5332A>T (p.Lys1778Ter)
| dbSNP |
17 | g.63940950T>C | CA400610870 | SCN4A | c.5332A>G (p.Lys1778Glu)
| |
17 | g.63940950T>G | CA400610873 | SCN4A | c.5332A>C (p.Lys1778Gln)
| |
17 | g.63940950T= | CA2270160684 | SCN4A | c.5332A= (p.Lys1778=)
| |
17 | g.63940951G>A | CA501214141 | SCN4A | c.5331C>T (p.Ser1777=)
| |
17 | g.63940951G>C | CA400610877 | SCN4A | c.5331C>G (p.Ser1777Arg)
| |
17 | g.63940951G>T | CA400610879 | SCN4A | c.5331C>A (p.Ser1777Arg)
| gnomAD v4 |
17 | g.63940952C>A | CA400610882 | SCN4A | c.5330G>T (p.Ser1777Ile)
| |
17 | g.63940952C= | CA2270160685 | SCN4A | c.5330G= (p.Ser1777=)
| |
17 | g.63940952C>G | CA400610883 | SCN4A | c.5330G>C (p.Ser1777Thr)
| |
17 | g.63940952C>T | CA400610887 | SCN4A | c.5330G>A (p.Ser1777Asn)
| dbSNP gnomAD v4 |
17 | g.63940953T>A | CA400610891 | SCN4A | c.5329A>T (p.Ser1777Cys)
| |
17 | g.63940953T>C | CA400610901 | SCN4A | c.5329A>G (p.Ser1777Gly)
| |
17 | g.63940953T>G | CA400610903 | SCN4A | c.5329A>C (p.Ser1777Arg)
| |
17 | g.63940954C>A | CA400610906 | SCN4A | c.5328G>T (p.Met1776Ile)
| |
17 | g.63940954C>G | CA400610913 | SCN4A | c.5328G>C (p.Met1776Ile)
| |
17 | g.63940954C>T | CA400610909 | SCN4A | c.5328G>A (p.Met1776Ile)
| gnomAD v4 |
17 | g.63940955A= | CA2270160686 | SCN4A | c.5327T= (p.Met1776=)
| |
17 | g.63940955A>C | CA400610917 | SCN4A | c.5327T>G (p.Met1776Arg)
| |
17 | g.63940955A>G | CA400610919 | SCN4A | c.5327T>C (p.Met1776Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63940955A>T | CA400610921 | SCN4A | c.5327T>A (p.Met1776Lys)
| |
17 | g.63940956T>A | CA400612880 | SCN4A | c.5326A>T (p.Met1776Leu)
| |
17 | g.63940956T>C | CA400612881 | SCN4A | c.5326A>G (p.Met1776Val)
| |
17 | g.63940956T>G | CA400612882 | SCN4A | c.5326A>C (p.Met1776Leu)
| |
17 | g.63940957G>A | CA501347760 | SCN4A | c.5325C>T (p.Thr1775=)
| |
17 | g.63940957G>C | CA501347761 | SCN4A | c.5325C>G (p.Thr1775=)
| |
17 | g.63940957G>T | CA501347762 | SCN4A | c.5325C>A (p.Thr1775=)
| |
17 | g.63940958G>A | CA400612883 | SCN4A | c.5324C>T (p.Thr1775Ile)
| |
17 | g.63940958G>C | CA400612884 | SCN4A | c.5324C>G (p.Thr1775Ser)
| |
17 | g.63940958G>T | CA400612885 | SCN4A | c.5324C>A (p.Thr1775Asn)
| |
17 | g.63940959T>A | CA400612886 | SCN4A | c.5323A>T (p.Thr1775Ser)
| |
17 | g.63940959T>C | CA400612887 | SCN4A | c.5323A>G (p.Thr1775Ala)
| |
17 | g.63940959T>G | CA400612888 | SCN4A | c.5323A>C (p.Thr1775Pro)
| gnomAD v4 |
17 | g.63940960G>A | CA501347766 | SCN4A | c.5322C>T (p.Asn1774=)
| |
17 | g.63940960G>C | CA400612890 | SCN4A | c.5322C>G (p.Asn1774Lys)
| |
17 | g.63940960G>T | CA400612889 | SCN4A | c.5322C>A (p.Asn1774Lys)
| |
17 | g.63940961T>A | CA400612891 | SCN4A | c.5321A>T (p.Asn1774Ile)
| |
17 | g.63940961T>C | CA400612892 | SCN4A | c.5321A>G (p.Asn1774Ser)
| |
17 | g.63940961T>G | CA400612893 | SCN4A | c.5321A>C (p.Asn1774Thr)
| gnomAD v4 |
17 | g.63940962T>A | CA400612894 | SCN4A | c.5320A>T (p.Asn1774Tyr)
| |
17 | g.63940962T>C | CA400612895 | SCN4A | c.5320A>G (p.Asn1774Asp)
| |
17 | g.63940962T>G | CA400612896 | SCN4A | c.5320A>C (p.Asn1774His)
| |
17 | g.63940962_63940969del | CA2639321690 | SCN4A | c.5313_5320del (p.Leu1772HisfsTer?)
| gnomAD v4 |
17 | g.63940963G>A | CA8708783 | SCN4A | c.5319C>T (p.Ala1773=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63940963G>C | CA501347771 | SCN4A | c.5319C>G (p.Ala1773=)
| |
17 | g.63940963G= | CA2270160687 | SCN4A | c.5319C= (p.Ala1773=)
| |
17 | g.63940963G>T | CA501347772 | SCN4A | c.5319C>A (p.Ala1773=)
| |
17 | g.63940964G>A | CA292956251 | SCN4A | c.5318C>T (p.Ala1773Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63940964G>C | CA400612897 | SCN4A | c.5318C>G (p.Ala1773Gly)
| |
17 | g.63940964G= | CA2270160688 | SCN4A | c.5318C= (p.Ala1773=)
| |
17 | g.63940964G>T | CA400612898 | SCN4A | c.5318C>A (p.Ala1773Asp)
| |
17 | g.63940965C>A | CA400612899 | SCN4A | c.5317G>T (p.Ala1773Ser)
| |
17 | g.63940965C= | CA2270160689 | SCN4A | c.5317G= (p.Ala1773=)
| |
17 | g.63940965C>G | CA400612900 | SCN4A | c.5317G>C (p.Ala1773Pro)
| dbSNP |
17 | g.63940965C>T | CA400612901 | SCN4A | c.5317G>A (p.Ala1773Thr)
| dbSNP gnomAD v4 |
17 | g.63940966A= | CA2270160690 | SCN4A | c.5316T= (p.Leu1772=)
| |
17 | g.63940966A>C | CA501347779 | SCN4A | c.5316T>G (p.Leu1772=)
| |
17 | g.63940966A>G | CA501347780 | SCN4A | c.5316T>C (p.Leu1772=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63940966A>T | CA501347781 | SCN4A | c.5316T>A (p.Leu1772=)
| |
17 | g.63940967A= | CA2270160691 | SCN4A | c.5315T= (p.Leu1772=)
| |
17 | g.63940967A>C | CA400612903 | SCN4A | c.5315T>G (p.Leu1772Arg)
| |
17 | g.63940967A>G | CA292956255 | SCN4A | c.5315T>C (p.Leu1772Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.63940967A>T | CA400612902 | SCN4A | c.5315T>A (p.Leu1772His)
| |
17 | g.63940968G>A | CA400612905 | SCN4A | c.5314C>T (p.Leu1772Phe)
| dbSNP gnomAD v4 |
17 | g.63940968G>C | CA400612904 | SCN4A | c.5314C>G (p.Leu1772Val)
| |
17 | g.63940968G>T | CA400612906 | SCN4A | c.5314C>A (p.Leu1772Ile)
| |
17 | g.63940969C>A | CA501347791 | SCN4A | c.5313G>T (p.Leu1771=)
| |
17 | g.63940969C>G | CA501347788 | SCN4A | c.5313G>C (p.Leu1771=)
| |
17 | g.63940969C>T | CA501347790 | SCN4A | c.5313G>A (p.Leu1771=)
| |
17 | g.63940970A= | CA2270160692 | SCN4A | c.5312T= (p.Leu1771=)
| |
17 | g.63940970A>C | CA400612907 | SCN4A | c.5312T>G (p.Leu1771Arg)
| |
17 | g.63940970A>G | CA400612908 | SCN4A | c.5312T>C (p.Leu1771Pro)
| gnomAD v4 |
17 | g.63940970A>T | CA400612909 | SCN4A | c.5312T>A (p.Leu1771Gln)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63940970_63940971insT | CA2639321748 | SCN4A | c.5311_5312insA (p.Leu1771HisfsTer?)
| gnomAD v4 |
17 | g.63940971G>A | CA501347793 | SCN4A | c.5311C>T (p.Leu1771=)
| |
17 | g.63940971G>C | CA400612910 | SCN4A | c.5311C>G (p.Leu1771Val)
| |
17 | g.63940971G>T | CA400612911 | SCN4A | c.5311C>A (p.Leu1771Met)
| |
17 | g.63940972C>A | CA501347798 | SCN4A | c.5310G>T (p.Gly1770=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63940972C= | CA2270160693 | SCN4A | c.5310G= (p.Gly1770=)
| |
17 | g.63940972C>G | CA501347799 | SCN4A | c.5310G>C (p.Gly1770=)
| |
17 | g.63940972C>T | CA501347800 | SCN4A | c.5310G>A (p.Gly1770=)
| dbSNP gnomAD v4 |
17 | g.63940973C>A | CA400612912 | SCN4A | c.5309G>T (p.Gly1770Val)
| dbSNP |
17 | g.63940973C= | CA2270160694 | SCN4A | c.5309G= (p.Gly1770=)
| |
17 | g.63940973C>G | CA400612913 | SCN4A | c.5309G>C (p.Gly1770Ala)
| |
17 | g.63940973C>T | CA400612914 | SCN4A | c.5309G>A (p.Gly1770Glu)
| dbSNP |
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=)
| |