| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38603749_38603751del | CA2665114727 | SCN5A | c.1856_1858del (p.Leu619del) c.1727_1729del (p.Leu576del) | gnomAD v4 |
| 3 | g.38603746A>C | CA352145885 | SCN5A | c.1856T>G (p.Leu619Arg) c.1727T>G (p.Leu576Arg) | |
| 3 | g.38603746A>G | CA352145887 | SCN5A | c.1856T>C (p.Leu619Pro) c.1727T>C (p.Leu576Pro) | gnomAD v4 |
| 3 | g.38603746A>T | CA352145888 | SCN5A | c.1856T>A (p.Leu619His) c.1727T>A (p.Leu576His) | |
| 3 | g.38603747G>A | CA015443 | SCN5A | c.1855C>T (p.Leu619Phe) c.1726C>T (p.Leu576Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603747G>C | CA352145893 | SCN5A | c.1855C>G (p.Leu619Val) c.1726C>G (p.Leu576Val) | |
| 3 | g.38603747G= | CA1358584720 | SCN5A | c.1855C= (p.Leu619=) c.1726C= (p.Leu576=) | |
| 3 | g.38603747G>T | CA352145891 | SCN5A | c.1855C>A (p.Leu619Ile) c.1726C>A (p.Leu576Ile) | gnomAD v4 |
| 3 | g.38603748G>A | CA433332815 | SCN5A | c.1854C>T (p.Leu618=) c.1725C>T (p.Leu575=) | COSMIC COSMIC COSMIC |
| 3 | g.38603748G>C | CA433332816 | SCN5A | c.1854C>G (p.Leu618=) c.1725C>G (p.Leu575=) | |
| 3 | g.38603748G>T | CA433332817 | SCN5A | c.1854C>A (p.Leu618=) c.1725C>A (p.Leu575=) | |
| 3 | g.38603749A>C | CA352145895 | SCN5A | c.1853T>G (p.Leu618Arg) c.1724T>G (p.Leu575Arg) | |
| 3 | g.38603749A>G | CA352145897 | SCN5A | c.1853T>C (p.Leu618Pro) c.1724T>C (p.Leu575Pro) | |
| 3 | g.38603749A>T | CA352145899 | SCN5A | c.1853T>A (p.Leu618His) c.1724T>A (p.Leu575His) | |
| 3 | g.38603750G>A | CA015435 | SCN5A | c.1852C>T (p.Leu618Phe) c.1723C>T (p.Leu575Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603750G>C | CA352145902 | SCN5A | c.1852C>G (p.Leu618Val) c.1723C>G (p.Leu575Val) | |
| 3 | g.38603750G= | CA1358584726 | SCN5A | c.1852C= (p.Leu618=) c.1723C= (p.Leu575=) | |
| 3 | g.38603750G>T | CA352145904 | SCN5A | c.1852C>A (p.Leu618Ile) c.1723C>A (p.Leu575Ile) | |
| 3 | g.38603751G>A | CA058930 | SCN5A | c.1851C>T (p.His617=) c.1722C>T (p.His574=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603751G>C | CA352145907 | SCN5A | c.1851C>G (p.His617Gln) c.1722C>G (p.His574Gln) | |
| 3 | g.38603751G= | CA1358584749 | SCN5A | c.1851C= (p.His617=) c.1722C= (p.His574=) | |
| 3 | g.38603751G>T | CA352145909 | SCN5A | c.1851C>A (p.His617Gln) c.1722C>A (p.His574Gln) | gnomAD v4 |
| 3 | g.38603752T>A | CA72939070 | SCN5A | c.1850A>T (p.His617Leu) c.1721A>T (p.His574Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603752T>C | CA352145914 | SCN5A | c.1850A>G (p.His617Arg) c.1721A>G (p.His574Arg) | ClinVar |
| 3 | g.38603752T>G | CA352145911 | SCN5A | c.1850A>C (p.His617Pro) c.1721A>C (p.His574Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38603752T= | CA1358584753 | SCN5A | c.1850A= (p.His617=) c.1721A= (p.His574=) | |
| 3 | g.38603753G>A | CA352145916 | SCN5A | c.1849C>T (p.His617Tyr) c.1720C>T (p.His574Tyr) | |
| 3 | g.38603753G>C | CA352145917 | SCN5A | c.1849C>G (p.His617Asp) c.1720C>G (p.His574Asp) | |
| 3 | g.38603753G>T | CA352145919 | SCN5A | c.1849C>A (p.His617Asn) c.1720C>A (p.His574Asn) | gnomAD v4 |
| 3 | g.38603754G>A | CA433332818 | SCN5A | c.1848C>T (p.Ser616=) c.1719C>T (p.Ser573=) | gnomAD v4 |
| 3 | g.38603754G>C | CA352145920 | SCN5A | c.1848C>G (p.Ser616Arg) c.1719C>G (p.Ser573Arg) | |
| 3 | g.38603754G>T | CA352145921 | SCN5A | c.1848C>A (p.Ser616Arg) c.1719C>A (p.Ser573Arg) | |
| 3 | g.38603755C>A | CA352145924 | SCN5A | c.1847G>T (p.Ser616Ile) c.1718G>T (p.Ser573Ile) | |
| 3 | g.38603755C= | CA1358584761 | SCN5A | c.1847G= (p.Ser616=) c.1718G= (p.Ser573=) | |
| 3 | g.38603755C>G | CA352145925 | SCN5A | c.1847G>C (p.Ser616Thr) c.1718G>C (p.Ser573Thr) | |
| 3 | g.38603755C>T | CA058922 | SCN5A | c.1847G>A (p.Ser616Asn) c.1718G>A (p.Ser573Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38603756T>A | CA352145928 | SCN5A | c.1846A>T (p.Ser616Cys) c.1717A>T (p.Ser573Cys) | |
| 3 | g.38603756T>C | CA352145930 | SCN5A | c.1846A>G (p.Ser616Gly) c.1717A>G (p.Ser573Gly) | |
| 3 | g.38603756T>G | CA352145932 | SCN5A | c.1846A>C (p.Ser616Arg) c.1717A>C (p.Ser573Arg) | |
| 3 | g.38603757T>A | CA433332819 | SCN5A | c.1845A>T (p.Gly615=) c.1716A>T (p.Gly572=) | |
| 3 | g.38603757T>C | CA433332820 | SCN5A | c.1845A>G (p.Gly615=) c.1716A>G (p.Gly572=) | |
| 3 | g.38603757T>G | CA433332821 | SCN5A | c.1845A>C (p.Gly615=) c.1716A>C (p.Gly572=) | |
| 3 | g.38603758C>A | CA352145935 | SCN5A | c.1844G>T (p.Gly615Val) c.1715G>T (p.Gly572Val) | |
| 3 | g.38603758C= | CA1358584768 | SCN5A | c.1844G= (p.Gly615=) c.1715G= (p.Gly572=) | |
| 3 | g.38603758C>G | CA352145937 | SCN5A | c.1844G>C (p.Gly615Ala) c.1715G>C (p.Gly572Ala) | |
| 3 | g.38603758C>T | CA015428 | SCN5A | c.1844G>A (p.Gly615Glu) c.1715G>A (p.Gly572Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603759C>A | CA352145939 | SCN5A | c.1843G>T (p.Gly615Ter) c.1714G>T (p.Gly572Ter) | |
| 3 | g.38603759C>G | CA352145940 | SCN5A | c.1843G>C (p.Gly615Arg) c.1714G>C (p.Gly572Arg) | |
| 3 | g.38603759C>T | CA352145942 | SCN5A | c.1843G>A (p.Gly615Arg) c.1714G>A (p.Gly572Arg) | |
| 3 | g.38603760T>A | CA433332822 | SCN5A | c.1842A>T (p.Pro614=) c.1713A>T (p.Pro571=) |