Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603697T>C | CA2665114714 | SCN5A | c.1890+15A>G (n.1890+15A>G) c.1761+15A>G (n.1761+15A>G) | gnomAD v4 |
3 | g.38603698C>A | CA2839403157 | SCN5A | c.1890+14G>T (n.1890+14G>T) c.1761+14G>T (n.1761+14G>T) | |
3 | g.38603698C= | CA1358584602 | SCN5A | c.1890+14G= (n.1890+14G=) c.1761+14G= (n.1761+14G=) | |
3 | g.38603698C>T | CA015489 | SCN5A | c.1890+14G>A (n.1890+14G>A) c.1761+14G>A (n.1761+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603699G>A | CA059032 | SCN5A | c.1890+13C>T (n.1890+13C>T) c.1761+13C>T (n.1761+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603699G>C | CA2553966745 | SCN5A | c.1890+13C>G (n.1890+13C>G) c.1761+13C>G (n.1761+13C>G) | |
3 | g.38603699G= | CA1358584607 | SCN5A | c.1890+13C= (n.1890+13C=) c.1761+13C= (n.1761+13C=) | |
3 | g.38603699G>T | CA647554514 | SCN5A | c.1890+13C>A (n.1890+13C>A) c.1761+13C>A (n.1761+13C>A) | gnomAD v4 COSMIC |
3 | g.38603702del | CA542615620 | SCN5A | c.1890+13del (n.1890+13del) c.1761+13del (n.1761+13del) | gnomAD v2 gnomAD v4 |
3 | g.38603700G>A | CA2665114715 | SCN5A | c.1890+12C>T (n.1890+12C>T) c.1761+12C>T (n.1761+12C>T) | gnomAD v4 |
3 | g.38603700G>C | CA2739279648 | SCN5A | c.1890+12C>G (n.1890+12C>G) c.1761+12C>G (n.1761+12C>G) | ClinVar |
3 | g.38603700G>T | CA2665114716 | SCN5A | c.1890+12C>A (n.1890+12C>A) c.1761+12C>A (n.1761+12C>A) | gnomAD v4 |
3 | g.38603701G>A | CA2665114717 | SCN5A | c.1890+11C>T (n.1890+11C>T) c.1761+11C>T (n.1761+11C>T) | gnomAD v4 |
3 | g.38603701G>C | CA542615621 | SCN5A | c.1890+11C>G (n.1890+11C>G) c.1761+11C>G (n.1761+11C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603701G= | CA1358584609 | SCN5A | c.1890+11C= (n.1890+11C=) c.1761+11C= (n.1761+11C=) | |
3 | g.38603701G>T | CA2665114718 | SCN5A | c.1890+11C>A (n.1890+11C>A) c.1761+11C>A (n.1761+11C>A) | gnomAD v4 |
3 | g.38603702G>A | CA2665114719 | SCN5A | c.1890+10C>T (n.1890+10C>T) c.1761+10C>T (n.1761+10C>T) | gnomAD v4 |
3 | g.38603702G>C | CA2577553435 | SCN5A | c.1890+10C>G (n.1890+10C>G) c.1761+10C>G (n.1761+10C>G) | ClinVar |
3 | g.38603702G>T | CA2840078118 | SCN5A | c.1890+10C>A (n.1890+10C>A) c.1761+10C>A (n.1761+10C>A) | |
3 | g.38603703C>A | CA2665114720 | SCN5A | c.1890+9G>T (n.1890+9G>T) c.1761+9G>T (n.1761+9G>T) | gnomAD v4 |
3 | g.38603703C>T | CA2665114721 | SCN5A | c.1890+9G>A (n.1890+9G>A) c.1761+9G>A (n.1761+9G>A) | gnomAD v4 |
3 | g.38603704T>G | CA2665114722 | SCN5A | c.1890+8A>C (n.1890+8A>C) c.1761+8A>C (n.1761+8A>C) | gnomAD v4 |
3 | g.38603705G>A | CA059099 | SCN5A | c.1890+7C>T (n.1890+7C>T) c.1761+7C>T (n.1761+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603705G>C | CA2577553436 | SCN5A | c.1890+7C>G (n.1890+7C>G) c.1761+7C>G (n.1761+7C>G) | ClinVar |
3 | g.38603705G= | CA1358584614 | SCN5A | c.1890+7C= (n.1890+7C=) c.1761+7C= (n.1761+7C=) | |
3 | g.38603705G>T | CA2840078119 | SCN5A | c.1890+7C>A (n.1890+7C>A) c.1761+7C>A (n.1761+7C>A) | |
3 | g.38603706G>A | CA2665114724 | SCN5A | c.1890+6C>T (n.1890+6C>T) c.1761+6C>T (n.1761+6C>T) | gnomAD v4 |
3 | g.38603706G>T | CA2665114723 | SCN5A | c.1890+6C>A (n.1890+6C>A) c.1761+6C>A (n.1761+6C>A) | gnomAD v4 |
3 | g.38603707C>A | CA2665114725 | SCN5A | c.1890+5G>T (n.1890+5G>T) c.1761+5G>T (n.1761+5G>T) | gnomAD v4 |
3 | g.38603707C>T | CA2586971907 | SCN5A | c.1890+5G>A (n.1890+5G>A) c.1761+5G>A (n.1761+5G>A) | |
3 | g.38603707dup | CA2838390418 | SCN5A | c.1890+5dup (n.1890+5dup) c.1761+5dup (n.1761+5dup) | |
3 | g.38603708T>C | CA2665114726 | SCN5A | c.1890+4A>G (n.1890+4A>G) c.1761+4A>G (n.1761+4A>G) | gnomAD v4 |
3 | g.38603709C>T | CA2840048928 | SCN5A | c.1890+3G>A (n.1890+3G>A) c.1761+3G>A (n.1761+3G>A) | |
3 | g.38603710A>C | CA352145755 | SCN5A | c.1890+2T>G (n.1890+2T>G) c.1761+2T>G (n.1761+2T>G) | ClinVar |
3 | g.38603710A>G | CA352145756 | SCN5A | c.1890+2T>C (n.1890+2T>C) c.1761+2T>C (n.1761+2T>C) | |
3 | g.38603710A>T | CA352145753 | SCN5A | c.1890+2T>A (n.1890+2T>A) c.1761+2T>A (n.1761+2T>A) | |
3 | g.38603711C>A | CA352145762 | SCN5A | c.1890+1G>T (n.1890+1G>T) c.1761+1G>T (n.1761+1G>T) | |
3 | g.38603711C= | CA1358584619 | SCN5A | c.1890+1G= (n.1890+1G=) c.1761+1G= (n.1761+1G=) | |
3 | g.38603711C>G | CA352145759 | SCN5A | c.1890+1G>C (n.1890+1G>C) c.1761+1G>C (n.1761+1G>C) | |
3 | g.38603711C>T | CA352145761 | SCN5A | c.1890+1G>A (n.1890+1G>A) c.1761+1G>A (n.1761+1G>A) | dbSNP COSMIC COSMIC COSMIC |
3 | g.38603712C>A | CA433332788 | SCN5A | c.1890G>T (p.Thr630=) c.1761G>T (p.Thr587=) | gnomAD v4 |
3 | g.38603712C= | CA1358584624 | SCN5A | c.1890G= (p.Thr630=) c.1761G= (p.Thr587=) | |
3 | g.38603712C>G | CA433332789 | SCN5A | c.1890G>C (p.Thr630=) c.1761G>C (p.Thr587=) | |
3 | g.38603712C>T | CA433332790 | SCN5A | c.1890G>A (p.Thr630=) c.1761G>A (p.Thr587=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603713G>A | CA015482 | SCN5A | c.1889C>T (p.Thr630Met) c.1760C>T (p.Thr587Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603713G>C | CA352145765 | SCN5A | c.1889C>G (p.Thr630Arg) c.1760C>G (p.Thr587Arg) | ClinVar |
3 | g.38603713G= | CA1358584628 | SCN5A | c.1889C= (p.Thr630=) c.1760C= (p.Thr587=) | |
3 | g.38603713G>T | CA352145767 | SCN5A | c.1889C>A (p.Thr630Lys) c.1760C>A (p.Thr587Lys) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603714T>A | CA352145769 | SCN5A | c.1888A>T (p.Thr630Ser) c.1759A>T (p.Thr587Ser) | |
3 | g.38603714T>C | CA352145772 | SCN5A | c.1888A>G (p.Thr630Ala) c.1759A>G (p.Thr587Ala) | |
3 | g.38603714T>G | CA352145773 | SCN5A | c.1888A>C (p.Thr630Pro) c.1759A>C (p.Thr587Pro) | |
3 | g.38603715G>A | CA433332791 | SCN5A | c.1887C>T (p.Asp629=) c.1758C>T (p.Asp586=) | gnomAD v4 |
3 | g.38603715G>C | CA352145776 | SCN5A | c.1887C>G (p.Asp629Glu) c.1758C>G (p.Asp586Glu) | |
3 | g.38603715G>T | CA352145777 | SCN5A | c.1887C>A (p.Asp629Glu) c.1758C>A (p.Asp586Glu) | |
3 | g.38603716T>A | CA352145779 | SCN5A | c.1886A>T (p.Asp629Val) c.1757A>T (p.Asp586Val) | |
3 | g.38603716T>C | CA352145780 | SCN5A | c.1886A>G (p.Asp629Gly) c.1757A>G (p.Asp586Gly) | ClinVar |
3 | g.38603716T>G | CA352145781 | SCN5A | c.1886A>C (p.Asp629Ala) c.1757A>C (p.Asp586Ala) | ClinVar dbSNP |
3 | g.38603717C>A | CA72939030 | SCN5A | c.1885G>T (p.Asp629Tyr) c.1756G>T (p.Asp586Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603717C= | CA1358584632 | SCN5A | c.1885G= (p.Asp629=) c.1756G= (p.Asp586=) | |
3 | g.38603717C>G | CA352145784 | SCN5A | c.1885G>C (p.Asp629His) c.1756G>C (p.Asp586His) | |
3 | g.38603717C>T | CA352145786 | SCN5A | c.1885G>A (p.Asp629Asn) c.1756G>A (p.Asp586Asn) | |
3 | g.38603718T>A | CA433332792 | SCN5A | c.1884A>T (p.Pro628=) c.1755A>T (p.Pro585=) | |
3 | g.38603718T>C | CA433332793 | SCN5A | c.1884A>G (p.Pro628=) c.1755A>G (p.Pro585=) | |
3 | g.38603718T>G | CA433332794 | SCN5A | c.1884A>C (p.Pro628=) c.1755A>C (p.Pro585=) | |
3 | g.38603719G>A | CA352145789 | SCN5A | c.1883C>T (p.Pro628Leu) c.1754C>T (p.Pro585Leu) | |
3 | g.38603719G>C | CA352145790 | SCN5A | c.1883C>G (p.Pro628Arg) c.1754C>G (p.Pro585Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603719G= | CA1358584636 | SCN5A | c.1883C= (p.Pro628=) c.1754C= (p.Pro585=) | |
3 | g.38603719G>T | CA352145792 | SCN5A | c.1883C>A (p.Pro628Gln) c.1754C>A (p.Pro585Gln) | |
3 | g.38603720G>A | CA352145794 | SCN5A | c.1882C>T (p.Pro628Ser) c.1753C>T (p.Pro585Ser) | dbSNP gnomAD v4 |
3 | g.38603720G>C | CA352145796 | SCN5A | c.1882C>G (p.Pro628Ala) c.1753C>G (p.Pro585Ala) | |
3 | g.38603720G= | CA1358584639 | SCN5A | c.1882C= (p.Pro628=) c.1753C= (p.Pro585=) | |
3 | g.38603720G>T | CA352145797 | SCN5A | c.1882C>A (p.Pro628Thr) c.1753C>A (p.Pro585Thr) | gnomAD v4 |
3 | g.38603721C>A | CA433332795 | SCN5A | c.1881G>T (p.Pro627=) c.1752G>T (p.Pro584=) | |
3 | g.38603721C= | CA1358584642 | SCN5A | c.1881G= (p.Pro627=) c.1752G= (p.Pro584=) | |
3 | g.38603721C>G | CA433332796 | SCN5A | c.1881G>C (p.Pro627=) c.1752G>C (p.Pro584=) | |
3 | g.38603721C>T | CA72939034 | SCN5A | c.1881G>A (p.Pro627=) c.1752G>A (p.Pro584=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603722G>A | CA015473 | SCN5A | c.1880C>T (p.Pro627Leu) c.1751C>T (p.Pro584Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603722G>C | CA352145801 | SCN5A | c.1880C>G (p.Pro627Arg) c.1751C>G (p.Pro584Arg) | |
3 | g.38603722G= | CA1358584649 | SCN5A | c.1880C= (p.Pro627=) c.1751C= (p.Pro584=) | |
3 | g.38603722G>T | CA352145802 | SCN5A | c.1880C>A (p.Pro627Gln) c.1751C>A (p.Pro584Gln) | |
3 | g.38603723G>A | CA352145805 | SCN5A | c.1879C>T (p.Pro627Ser) c.1750C>T (p.Pro584Ser) | |
3 | g.38603723G>C | CA352145806 | SCN5A | c.1879C>G (p.Pro627Ala) c.1750C>G (p.Pro584Ala) | ClinVar |
3 | g.38603723G>T | CA352145808 | SCN5A | c.1879C>A (p.Pro627Thr) c.1750C>A (p.Pro584Thr) | gnomAD v4 |
3 | g.38603724G>A | CA433332797 | SCN5A | c.1878C>T (p.His626=) c.1749C>T (p.His583=) | |
3 | g.38603724G>C | CA352145810 | SCN5A | c.1878C>G (p.His626Gln) c.1749C>G (p.His583Gln) | |
3 | g.38603724G= | CA1358584658 | SCN5A | c.1878C= (p.His626=) c.1749C= (p.His583=) | |
3 | g.38603724G>T | CA352145811 | SCN5A | c.1878C>A (p.His626Gln) c.1749C>A (p.His583Gln) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603725T>A | CA352145812 | SCN5A | c.1877A>T (p.His626Leu) c.1748A>T (p.His583Leu) | |
3 | g.38603725T>C | CA352145813 | SCN5A | c.1877A>G (p.His626Arg) c.1748A>G (p.His583Arg) | dbSNP gnomAD v4 |
3 | g.38603725T>G | CA059003 | SCN5A | c.1877A>C (p.His626Pro) c.1748A>C (p.His583Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603725T= | CA1358584661 | SCN5A | c.1877A= (p.His626=) c.1748A= (p.His583=) | |
3 | g.38603726G>A | CA352145814 | SCN5A | c.1876C>T (p.His626Tyr) c.1747C>T (p.His583Tyr) | gnomAD v4 |
3 | g.38603726G>C | CA352145816 | SCN5A | c.1876C>G (p.His626Asp) c.1747C>G (p.His583Asp) | |
3 | g.38603726G>T | CA352145817 | SCN5A | c.1876C>A (p.His626Asn) c.1747C>A (p.His583Asn) | gnomAD v4 |
3 | g.38603727C>A | CA352145820 | SCN5A | c.1875G>T (p.Glu625Asp) c.1746G>T (p.Glu582Asp) | |
3 | g.38603727C= | CA1358584664 | SCN5A | c.1875G= (p.Glu625=) c.1746G= (p.Glu582=) | |
3 | g.38603727C>G | CA058996 | SCN5A | c.1875G>C (p.Glu625Asp) c.1746G>C (p.Glu582Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603727C>T | CA433332798 | SCN5A | c.1875G>A (p.Glu625=) c.1746G>A (p.Glu582=) | |
3 | g.38603728T>A | CA352145822 | SCN5A | c.1874A>T (p.Glu625Val) c.1745A>T (p.Glu582Val) | |
3 | g.38603728T>C | CA352145824 | SCN5A | c.1874A>G (p.Glu625Gly) c.1745A>G (p.Glu582Gly) | |
3 | g.38603728T>G | CA352145825 | SCN5A | c.1874A>C (p.Glu625Ala) c.1745A>C (p.Glu582Ala) | |
3 | g.38603729C>A | CA352145827 | SCN5A | c.1873G>T (p.Glu625Ter) c.1744G>T (p.Glu582Ter) | dbSNP |
3 | g.38603729C= | CA1358584669 | SCN5A | c.1873G= (p.Glu625=) c.1744G= (p.Glu582=) | |
3 | g.38603729C>G | CA015460 | SCN5A | c.1873G>C (p.Glu625Gln) c.1744G>C (p.Glu582Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603729C>T | CA352145830 | SCN5A | c.1873G>A (p.Glu625Lys) c.1744G>A (p.Glu582Lys) | gnomAD v4 |
3 | g.38603730T>A | CA433332799 | SCN5A | c.1872A>T (p.Leu624=) c.1743A>T (p.Leu581=) | |
3 | g.38603730T>C | CA433332801 | SCN5A | c.1872A>G (p.Leu624=) c.1743A>G (p.Leu581=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603730T>G | CA433332800 | SCN5A | c.1872A>C (p.Leu624=) c.1743A>C (p.Leu581=) | |
3 | g.38603730dup | CA2586971908 | SCN5A | c.1872dup (p.Glu625ArgfsTer?) c.1743dup (p.Glu582ArgfsTer?) | |
3 | g.38603731A= | CA1358584673 | SCN5A | c.1871T= (p.Leu624=) c.1742T= (p.Leu581=) | |
3 | g.38603731A>C | CA352145832 | SCN5A | c.1871T>G (p.Leu624Arg) c.1742T>G (p.Leu581Arg) | |
3 | g.38603731A>G | CA352145835 | SCN5A | c.1871T>C (p.Leu624Pro) c.1742T>C (p.Leu581Pro) | gnomAD v4 |
3 | g.38603731A>T | CA72939050 | SCN5A | c.1871T>A (p.Leu624Gln) c.1742T>A (p.Leu581Gln) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603732G>A | CA433332802 | SCN5A | c.1870C>T (p.Leu624=) c.1741C>T (p.Leu581=) | |
3 | g.38603732G>C | CA352145837 | SCN5A | c.1870C>G (p.Leu624Val) c.1741C>G (p.Leu581Val) | |
3 | g.38603732G= | CA1358584677 | SCN5A | c.1870C= (p.Leu624=) c.1741C= (p.Leu581=) | |
3 | g.38603732G>T | CA10616342 | SCN5A | c.1870C>A (p.Leu624Ile) c.1741C>A (p.Leu581Ile) | ClinVar dbSNP |
3 | g.38603733C>A | CA352145839 | SCN5A | c.1869G>T (p.Met623Ile) c.1740G>T (p.Met580Ile) | |
3 | g.38603733C>G | CA352145841 | SCN5A | c.1869G>C (p.Met623Ile) c.1740G>C (p.Met580Ile) | |
3 | g.38603733C>T | CA352145842 | SCN5A | c.1869G>A (p.Met623Ile) c.1740G>A (p.Met580Ile) | |
3 | g.38603734A= | CA1358584681 | SCN5A | c.1868T= (p.Met623=) c.1739T= (p.Met580=) | |
3 | g.38603734A>C | CA352145844 | SCN5A | c.1868T>G (p.Met623Arg) c.1739T>G (p.Met580Arg) | |
3 | g.38603734A>G | CA058987 | SCN5A | c.1868T>C (p.Met623Thr) c.1739T>C (p.Met580Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603734A>T | CA352145846 | SCN5A | c.1868T>A (p.Met623Lys) c.1739T>A (p.Met580Lys) | |
3 | g.38603735T>A | CA352145848 | SCN5A | c.1867A>T (p.Met623Leu) c.1738A>T (p.Met580Leu) | |
3 | g.38603735T>C | CA352145850 | SCN5A | c.1867A>G (p.Met623Val) c.1738A>G (p.Met580Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603735T>G | CA352145852 | SCN5A | c.1867A>C (p.Met623Leu) c.1738A>C (p.Met580Leu) | gnomAD v4 |
3 | g.38603735T= | CA1358584685 | SCN5A | c.1867A= (p.Met623=) c.1738A= (p.Met580=) | |
3 | g.38603736C>A | CA433332803 | SCN5A | c.1866G>T (p.Val622=) c.1737G>T (p.Val579=) | gnomAD v4 |
3 | g.38603736C>G | CA433332805 | SCN5A | c.1866G>C (p.Val622=) c.1737G>C (p.Val579=) | |
3 | g.38603736C>T | CA433332804 | SCN5A | c.1866G>A (p.Val622=) c.1737G>A (p.Val579=) | ClinVar COSMIC COSMIC COSMIC |
3 | g.38603737A>C | CA352145858 | SCN5A | c.1865T>G (p.Val622Gly) c.1736T>G (p.Val579Gly) | |
3 | g.38603737A>G | CA352145856 | SCN5A | c.1865T>C (p.Val622Ala) c.1736T>C (p.Val579Ala) | gnomAD v4 |
3 | g.38603737A>T | CA352145854 | SCN5A | c.1865T>A (p.Val622Glu) c.1736T>A (p.Val579Glu) | |
3 | g.38603738C>A | CA352145860 | SCN5A | c.1864G>T (p.Val622Leu) c.1735G>T (p.Val579Leu) | gnomAD v4 |
3 | g.38603738C>G | CA352145864 | SCN5A | c.1864G>C (p.Val622Leu) c.1735G>C (p.Val579Leu) | |
3 | g.38603738C>T | CA352145862 | SCN5A | c.1864G>A (p.Val622Met) c.1735G>A (p.Val579Met) | |
3 | g.38603739A= | CA1358584688 | SCN5A | c.1863T= (p.Pro621=) c.1734T= (p.Pro578=) | |
3 | g.38603739A>C | CA433332806 | SCN5A | c.1863T>G (p.Pro621=) c.1734T>G (p.Pro578=) | |
3 | g.38603739A>G | CA433332807 | SCN5A | c.1863T>C (p.Pro621=) c.1734T>C (p.Pro578=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603739A>T | CA433332808 | SCN5A | c.1863T>A (p.Pro621=) c.1734T>A (p.Pro578=) | |
3 | g.38603740G>A | CA352145866 | SCN5A | c.1862C>T (p.Pro621Leu) c.1733C>T (p.Pro578Leu) | COSMIC COSMIC COSMIC |
3 | g.38603740G>C | CA352145869 | SCN5A | c.1862C>G (p.Pro621Arg) c.1733C>G (p.Pro578Arg) | ClinVar dbSNP |
3 | g.38603740G>T | CA352145868 | SCN5A | c.1862C>A (p.Pro621His) c.1733C>A (p.Pro578His) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603741G>A | CA352145872 | SCN5A | c.1861C>T (p.Pro621Ser) c.1732C>T (p.Pro578Ser) | |
3 | g.38603741G>C | CA352145873 | SCN5A | c.1861C>G (p.Pro621Ala) c.1732C>G (p.Pro578Ala) | |
3 | g.38603741G>T | CA352145875 | SCN5A | c.1861C>A (p.Pro621Thr) c.1732C>A (p.Pro578Thr) | gnomAD v4 |
3 | g.38603742G>A | CA433332809 | SCN5A | c.1860C>T (p.Arg620=) c.1731C>T (p.Arg577=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603742G>C | CA433332810 | SCN5A | c.1860C>G (p.Arg620=) c.1731C>G (p.Arg577=) | |
3 | g.38603742G= | CA1358584696 | SCN5A | c.1860C= (p.Arg620=) c.1731C= (p.Arg577=) | |
3 | g.38603742G>T | CA433332811 | SCN5A | c.1860C>A (p.Arg620=) c.1731C>A (p.Arg577=) | |
3 | g.38603743del | CA2840078120 | SCN5A | c.1859del (p.Arg620ProfsTer3) c.1730del (p.Arg577ProfsTer3) | |
3 | g.38603743C>A | CA72939056 | SCN5A | c.1859G>T (p.Arg620Leu) c.1730G>T (p.Arg577Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603743C= | CA1358584701 | SCN5A | c.1859G= (p.Arg620=) c.1730G= (p.Arg577=) | |
3 | g.38603743C>G | CA352145878 | SCN5A | c.1859G>C (p.Arg620Pro) c.1730G>C (p.Arg577Pro) | |
3 | g.38603743C>T | CA058963 | SCN5A | c.1859G>A (p.Arg620His) c.1730G>A (p.Arg577His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603744G>A | CA015449 | SCN5A | c.1858C>T (p.Arg620Cys) c.1729C>T (p.Arg577Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603744G>C | CA352145881 | SCN5A | c.1858C>G (p.Arg620Gly) c.1729C>G (p.Arg577Gly) | |
3 | g.38603744G= | CA1358584712 | SCN5A | c.1858C= (p.Arg620=) c.1729C= (p.Arg577=) | |
3 | g.38603744G>T | CA352145883 | SCN5A | c.1858C>A (p.Arg620Ser) c.1729C>A (p.Arg577Ser) | gnomAD v4 |
3 | g.38603749_38603751del | CA2665114727 | SCN5A | c.1856_1858del (p.Leu619del) c.1727_1729del (p.Leu576del) | gnomAD v4 |
3 | g.38603745G>A | CA433332814 | SCN5A | c.1857C>T (p.Leu619=) c.1728C>T (p.Leu576=) | |
3 | g.38603745G>C | CA433332812 | SCN5A | c.1857C>G (p.Leu619=) c.1728C>G (p.Leu576=) | |
3 | g.38603745G>T | CA433332813 | SCN5A | c.1857C>A (p.Leu619=) c.1728C>A (p.Leu576=) | |
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) | ClinVar 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=) | |
3 | g.38603760T>C | CA015419 | SCN5A | c.1842A>G (p.Pro614=) c.1713A>G (p.Pro571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603760T>G | CA433332823 | SCN5A | c.1842A>C (p.Pro614=) c.1713A>C (p.Pro571=) | |
3 | g.38603760T= | CA1358584772 | SCN5A | c.1842A= (p.Pro614=) c.1713A= (p.Pro571=) | |
3 | g.38603761G>A | CA352145947 | SCN5A | c.1841C>T (p.Pro614Leu) c.1712C>T (p.Pro571Leu) | |
3 | g.38603761G>C | CA352145946 | SCN5A | c.1841C>G (p.Pro614Arg) c.1712C>G (p.Pro571Arg) | gnomAD v4 |
3 | g.38603761G>T | CA352145944 | SCN5A | c.1841C>A (p.Pro614Gln) c.1712C>A (p.Pro571Gln) | |
3 | g.38603764del | CA2665114728 | SCN5A | c.1841del (p.Pro614GlnfsTer9) c.1712del (p.Pro571GlnfsTer9) | gnomAD v4 |
3 | g.38603762G>A | CA015410 | SCN5A | c.1840C>T (p.Pro614Ser) c.1711C>T (p.Pro571Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603762G>C | CA352145950 | SCN5A | c.1840C>G (p.Pro614Ala) c.1711C>G (p.Pro571Ala) | |
3 | g.38603762G= | CA1358584778 | SCN5A | c.1840C= (p.Pro614=) c.1711C= (p.Pro571=) | |
3 | g.38603762G>T | CA352145952 | SCN5A | c.1840C>A (p.Pro614Thr) c.1711C>A (p.Pro571Thr) | |
3 | g.38603763G>A | CA433332824 | SCN5A | c.1839C>T (p.Ser613=) c.1710C>T (p.Ser570=) | gnomAD v4 |
3 | g.38603763G>C | CA433332825 | SCN5A | c.1839C>G (p.Ser613=) c.1710C>G (p.Ser570=) | |
3 | g.38603763G>T | CA433332826 | SCN5A | c.1839C>A (p.Ser613=) c.1710C>A (p.Ser570=) | |
3 | g.38603764G>A | CA352145954 | SCN5A | c.1838C>T (p.Ser613Phe) c.1709C>T (p.Ser570Phe) | |
3 | g.38603764G>C | CA352145956 | SCN5A | c.1838C>G (p.Ser613Cys) c.1709C>G (p.Ser570Cys) | |
3 | g.38603764G>T | CA352145957 | SCN5A | c.1838C>A (p.Ser613Tyr) c.1709C>A (p.Ser570Tyr) | |
3 | g.38603765A>C | CA352145962 | SCN5A | c.1837T>G (p.Ser613Ala) c.1708T>G (p.Ser570Ala) | |
3 | g.38603765A>G | CA352145960 | SCN5A | c.1837T>C (p.Ser613Pro) c.1708T>C (p.Ser570Pro) | |
3 | g.38603765A>T | CA352145958 | SCN5A | c.1837T>A (p.Ser613Thr) c.1708T>A (p.Ser570Thr) | |
3 | g.38603766T>A | CA433332829 | SCN5A | c.1836A>T (p.Thr612=) c.1707A>T (p.Thr569=) | |
3 | g.38603766T>C | CA433332827 | SCN5A | c.1836A>G (p.Thr612=) c.1707A>G (p.Thr569=) | |
3 | g.38603766T>G | CA433332828 | SCN5A | c.1836A>C (p.Thr612=) c.1707A>C (p.Thr569=) | |
3 | g.38603767G>A | CA352145964 | SCN5A | c.1835C>T (p.Thr612Ile) c.1706C>T (p.Thr569Ile) | ClinVar gnomAD v4 |
3 | g.38603767G>C | CA352145967 | SCN5A | c.1835C>G (p.Thr612Arg) c.1706C>G (p.Thr569Arg) | |
3 | g.38603767G>T | CA352145965 | SCN5A | c.1835C>A (p.Thr612Lys) c.1706C>A (p.Thr569Lys) | |
3 | g.38603768T>A | CA352145970 | SCN5A | c.1834A>T (p.Thr612Ser) c.1705A>T (p.Thr569Ser) | |
3 | g.38603768T>C | CA352145971 | SCN5A | c.1834A>G (p.Thr612Ala) c.1705A>G (p.Thr569Ala) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38603768T>G | CA352145973 | SCN5A | c.1834A>C (p.Thr612Pro) c.1705A>C (p.Thr569Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603768T= | CA1358584786 | SCN5A | c.1834A= (p.Thr612=) c.1705A= (p.Thr569=) | |
3 | g.38603769G>A | CA433332830 | SCN5A | c.1833C>T (p.Ala611=) c.1704C>T (p.Ala568=) | |
3 | g.38603769G>C | CA433332831 | SCN5A | c.1833C>G (p.Ala611=) c.1704C>G (p.Ala568=) | ClinVar |
3 | g.38603769G>T | CA433332832 | SCN5A | c.1833C>A (p.Ala611=) c.1704C>A (p.Ala568=) | |
3 | g.38603770G>A | CA352145975 | SCN5A | c.1832C>T (p.Ala611Val) c.1703C>T (p.Ala568Val) | |
3 | g.38603770G>C | CA352145977 | SCN5A | c.1832C>G (p.Ala611Gly) c.1703C>G (p.Ala568Gly) | |
3 | g.38603770G>T | CA352145978 | SCN5A | c.1832C>A (p.Ala611Asp) c.1703C>A (p.Ala568Asp) | gnomAD v4 |
3 | g.38603771C>A | CA352145980 | SCN5A | c.1831G>T (p.Ala611Ser) c.1702G>T (p.Ala568Ser) | |
3 | g.38603771C>G | CA352145981 | SCN5A | c.1831G>C (p.Ala611Pro) c.1702G>C (p.Ala568Pro) | |
3 | g.38603771C>T | CA352145982 | SCN5A | c.1831G>A (p.Ala611Thr) c.1702G>A (p.Ala568Thr) | gnomAD v4 |
3 | g.38603772dup | CA2840078121 | SCN5A | c.1831dup (p.Ala611GlyfsTer?) c.1702dup (p.Ala568GlyfsTer?) | |
3 | g.38603772C>A | CA352145983 | SCN5A | c.1830G>T (p.Glu610Asp) c.1701G>T (p.Glu567Asp) | |
3 | g.38603772C= | CA1358584795 | SCN5A | c.1830G= (p.Glu610=) c.1701G= (p.Glu567=) | |
3 | g.38603772C>G | CA352145985 | SCN5A | c.1830G>C (p.Glu610Asp) c.1701G>C (p.Glu567Asp) | |
3 | g.38603772C>T | CA433332833 | SCN5A | c.1830G>A (p.Glu610=) c.1701G>A (p.Glu567=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603773T>A | CA352145990 | SCN5A | c.1829A>T (p.Glu610Val) c.1700A>T (p.Glu567Val) | |
3 | g.38603773T>C | CA352145987 | SCN5A | c.1829A>G (p.Glu610Gly) c.1700A>G (p.Glu567Gly) | |
3 | g.38603773T>G | CA352145989 | SCN5A | c.1829A>C (p.Glu610Ala) c.1700A>C (p.Glu567Ala) | |
3 | g.38603774C>A | CA352145992 | SCN5A | c.1828G>T (p.Glu610Ter) c.1699G>T (p.Glu567Ter) | dbSNP gnomAD v4 |
3 | g.38603774C= | CA1358584801 | SCN5A | c.1828G= (p.Glu610=) c.1699G= (p.Glu567=) | |
3 | g.38603774C>G | CA352145993 | SCN5A | c.1828G>C (p.Glu610Gln) c.1699G>C (p.Glu567Gln) | |
3 | g.38603774C>T | CA058894 | SCN5A | c.1828G>A (p.Glu610Lys) c.1699G>A (p.Glu567Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603775T>A | CA433332835 | SCN5A | c.1827A>T (p.Pro609=) c.1698A>T (p.Pro566=) | |
3 | g.38603775T>C | CA433332837 | SCN5A | c.1827A>G (p.Pro609=) c.1698A>G (p.Pro566=) | ClinVar |
3 | g.38603775T>G | CA433332840 | SCN5A | c.1827A>C (p.Pro609=) c.1698A>C (p.Pro566=) | |
3 | g.38603776G>A | CA352145996 | SCN5A | c.1826C>T (p.Pro609Leu) c.1697C>T (p.Pro566Leu) | ClinVar gnomAD v4 |
3 | g.38603776G>C | CA352145997 | SCN5A | c.1826C>G (p.Pro609Arg) c.1697C>G (p.Pro566Arg) | |
3 | g.38603776G>T | CA352145999 | SCN5A | c.1826C>A (p.Pro609Gln) c.1697C>A (p.Pro566Gln) | gnomAD v4 |
3 | g.38603778dup | CA2838602280 | SCN5A | c.1826dup (p.Glu610ArgfsTer?) c.1697dup (p.Glu567ArgfsTer?) | |
3 | g.38603778del | CA2838602278 | SCN5A | c.1826del (p.Pro609GlnfsTer14) c.1697del (p.Pro566GlnfsTer14) | |
3 | g.38603777_38603778del | CA2665114729 | SCN5A | c.1825_1826del (p.Pro609ArgfsTer?) c.1696_1697del (p.Pro566ArgfsTer?) | gnomAD v4 |
3 | g.38603777G>A | CA352146000 | SCN5A | c.1825C>T (p.Pro609Ser) c.1696C>T (p.Pro566Ser) | |
3 | g.38603777G>C | CA352146002 | SCN5A | c.1825C>G (p.Pro609Ala) c.1696C>G (p.Pro566Ala) | |
3 | g.38603777G>T | CA352146004 | SCN5A | c.1825C>A (p.Pro609Thr) c.1696C>A (p.Pro566Thr) | gnomAD v4 |
3 | g.38603778G>A | CA433332841 | SCN5A | c.1824C>T (p.Asp608=) c.1695C>T (p.Asp565=) | gnomAD v4 |
3 | g.38603778G>C | CA352146007 | SCN5A | c.1824C>G (p.Asp608Glu) c.1695C>G (p.Asp565Glu) | |
3 | g.38603778G>T | CA352146009 | SCN5A | c.1824C>A (p.Asp608Glu) c.1695C>A (p.Asp565Glu) | gnomAD v4 |
3 | g.38603779T>A | CA352146013 | SCN5A | c.1823A>T (p.Asp608Val) c.1694A>T (p.Asp565Val) | |
3 | g.38603779T>C | CA352146015 | SCN5A | c.1823A>G (p.Asp608Gly) c.1694A>G (p.Asp565Gly) | |
3 | g.38603779T>G | CA352146011 | SCN5A | c.1823A>C (p.Asp608Ala) c.1694A>C (p.Asp565Ala) | |
3 | g.38603779dup | CA2840078122 | SCN5A | c.1823dup (p.Asp608GlufsTer?) c.1694dup (p.Asp565GlufsTer?) | |
3 | g.38603780C>A | CA352146016 | SCN5A | c.1822G>T (p.Asp608Tyr) c.1693G>T (p.Asp565Tyr) | |
3 | g.38603780C= | CA1358584810 | SCN5A | c.1822G= (p.Asp608=) c.1693G= (p.Asp565=) | |
3 | g.38603780C>G | CA058882 | SCN5A | c.1822G>C (p.Asp608His) c.1693G>C (p.Asp565His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603780C>T | CA058871 | SCN5A | c.1822G>A (p.Asp608Asn) c.1693G>A (p.Asp565Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603781G>A | CA015401 | SCN5A | c.1821C>T (p.Gly607=) c.1692C>T (p.Gly564=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603781G>C | CA433332843 | SCN5A | c.1821C>G (p.Gly607=) c.1692C>G (p.Gly564=) | |
3 | g.38603781G= | CA1358584818 | SCN5A | c.1821C= (p.Gly607=) c.1692C= (p.Gly564=) | |
3 | g.38603781G>T | CA433332844 | SCN5A | c.1821C>A (p.Gly607=) c.1692C>A (p.Gly564=) | |
3 | g.38603782C>A | CA015393 | SCN5A | c.1820G>T (p.Gly607Val) c.1691G>T (p.Gly564Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603782C= | CA1358584826 | SCN5A | c.1820G= (p.Gly607=) c.1691G= (p.Gly564=) | |
3 | g.38603782C>G | CA352146023 | SCN5A | c.1820G>C (p.Gly607Ala) c.1691G>C (p.Gly564Ala) | |
3 | g.38603782C>T | CA015379 | SCN5A | c.1820G>A (p.Gly607Asp) c.1691G>A (p.Gly564Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603783C>A | CA352146028 | SCN5A | c.1819G>T (p.Gly607Cys) c.1690G>T (p.Gly564Cys) | |
3 | g.38603783C= | CA1358584835 | SCN5A | c.1819G= (p.Gly607=) c.1690G= (p.Gly564=) | |
3 | g.38603783C>G | CA352146029 | SCN5A | c.1819G>C (p.Gly607Arg) c.1690G>C (p.Gly564Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603783C>T | CA352146032 | SCN5A | c.1819G>A (p.Gly607Ser) c.1690G>A (p.Gly564Ser) | |
3 | g.38603784T>A | CA433332847 | SCN5A | c.1818A>T (p.Ala606=) c.1689A>T (p.Ala563=) | |
3 | g.38603784T>C | CA433332848 | SCN5A | c.1818A>G (p.Ala606=) c.1689A>G (p.Ala563=) | gnomAD v4 |
3 | g.38603784T>G | CA433332849 | SCN5A | c.1818A>C (p.Ala606=) c.1689A>C (p.Ala563=) | |
3 | g.38603785G>A | CA352146035 | SCN5A | c.1817C>T (p.Ala606Val) c.1688C>T (p.Ala563Val) | gnomAD v4 |
3 | g.38603785G>C | CA352146036 | SCN5A | c.1817C>G (p.Ala606Gly) c.1688C>G (p.Ala563Gly) | |
3 | g.38603785G>T | CA352146038 | SCN5A | c.1817C>A (p.Ala606Glu) c.1688C>A (p.Ala563Glu) | gnomAD v4 |
3 | g.38603786C>A | CA352146043 | SCN5A | c.1816G>T (p.Ala606Ser) c.1687G>T (p.Ala563Ser) | |
3 | g.38603786C= | CA1358584840 | SCN5A | c.1816G= (p.Ala606=) c.1687G= (p.Ala563=) | |
3 | g.38603786C>G | CA352146042 | SCN5A | c.1816G>C (p.Ala606Pro) c.1687G>C (p.Ala563Pro) | dbSNP gnomAD v4 |
3 | g.38603786C>T | CA352146041 | SCN5A | c.1816G>A (p.Ala606Thr) c.1687G>A (p.Ala563Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603790dup | CA2839660820 | SCN5A | c.1816dup (p.Ala606GlyfsTer?) c.1687dup (p.Ala563GlyfsTer?) | |
3 | g.38603790del | CA2499216744 | SCN5A | c.1816del (p.Ala606GlnfsTer17) c.1687del (p.Ala563GlnfsTer17) | ClinVar dbSNP gnomAD v4 |
3 | g.38603787C>A | CA433332853 | SCN5A | c.1815G>T (p.Gly605=) c.1686G>T (p.Gly562=) | gnomAD v4 |
3 | g.38603787C>G | CA433332855 | SCN5A | c.1815G>C (p.Gly605=) c.1686G>C (p.Gly562=) | |
3 | g.38603787C>T | CA433332857 | SCN5A | c.1815G>A (p.Gly605=) c.1686G>A (p.Gly562=) | gnomAD v4 |
3 | g.38603788C>A | CA352146047 | SCN5A | c.1814G>T (p.Gly605Val) c.1685G>T (p.Gly562Val) | |
3 | g.38603788C= | CA1358584844 | SCN5A | c.1814G= (p.Gly605=) c.1685G= (p.Gly562=) | |
3 | g.38603788C>G | CA352146049 | SCN5A | c.1814G>C (p.Gly605Ala) c.1685G>C (p.Gly562Ala) | ClinVar dbSNP |
3 | g.38603788C>T | CA352146052 | SCN5A | c.1814G>A (p.Gly605Glu) c.1685G>A (p.Gly562Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603789C>A | CA352146054 | SCN5A | c.1813G>T (p.Gly605Trp) c.1684G>T (p.Gly562Trp) | |
3 | g.38603789C= | CA1358584848 | SCN5A | c.1813G= (p.Gly605=) c.1684G= (p.Gly562=) | |
3 | g.38603789C>G | CA352146057 | SCN5A | c.1813G>C (p.Gly605Arg) c.1684G>C (p.Gly562Arg) | |
3 | g.38603789C>T | CA352146060 | SCN5A | c.1813G>A (p.Gly605Arg) c.1684G>A (p.Gly562Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.38603790C>A | CA433332860 | SCN5A | c.1812G>T (p.Leu604=) c.1683G>T (p.Leu561=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603790C= | CA1358584856 | SCN5A | c.1812G= (p.Leu604=) c.1683G= (p.Leu561=) | |
3 | g.38603790C>G | CA433332862 | SCN5A | c.1812G>C (p.Leu604=) c.1683G>C (p.Leu561=) | |
3 | g.38603790C>T | CA433332864 | SCN5A | c.1812G>A (p.Leu604=) c.1683G>A (p.Leu561=) | ClinVar |
3 | g.38603791A>C | CA352146061 | SCN5A | c.1811T>G (p.Leu604Arg) c.1682T>G (p.Leu561Arg) | gnomAD v4 |
3 | g.38603791A>G | CA352146062 | SCN5A | c.1811T>C (p.Leu604Pro) c.1682T>C (p.Leu561Pro) | |
3 | g.38603791A>T | CA352146063 | SCN5A | c.1811T>A (p.Leu604Gln) c.1682T>A (p.Leu561Gln) | |
3 | g.38603792G>A | CA433332865 | SCN5A | c.1810C>T (p.Leu604=) c.1681C>T (p.Leu561=) | |
3 | g.38603792G>C | CA352146064 | SCN5A | c.1810C>G (p.Leu604Val) c.1681C>G (p.Leu561Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603792G= | CA1358584859 | SCN5A | c.1810C= (p.Leu604=) c.1681C= (p.Leu561=) | |
3 | g.38603792G>T | CA352146065 | SCN5A | c.1810C>A (p.Leu604Met) c.1681C>A (p.Leu561Met) | ClinVar |
3 | g.38603793T>A | CA352146066 | SCN5A | c.1809A>T (p.Leu603Phe) c.1680A>T (p.Leu560Phe) | |
3 | g.38603793T>C | CA433332867 | SCN5A | c.1809A>G (p.Leu603=) c.1680A>G (p.Leu560=) | gnomAD v4 |
3 | g.38603793T>G | CA352146067 | SCN5A | c.1809A>C (p.Leu603Phe) c.1680A>C (p.Leu560Phe) | |
3 | g.38603794A>C | CA352146070 | SCN5A | c.1808T>G (p.Leu603Ter) c.1679T>G (p.Leu560Ter) | |
3 | g.38603794A>G | CA352146072 | SCN5A | c.1808T>C (p.Leu603Ser) c.1679T>C (p.Leu560Ser) | |
3 | g.38603794A>T | CA352146069 | SCN5A | c.1808T>A (p.Leu603Ter) c.1679T>A (p.Leu560Ter) | |
3 | g.38603795A>C | CA352146076 | SCN5A | c.1807T>G (p.Leu603Val) c.1678T>G (p.Leu560Val) | |
3 | g.38603795A>G | CA433332869 | SCN5A | c.1807T>C (p.Leu603=) c.1678T>C (p.Leu560=) | |
3 | g.38603795A>T | CA352146074 | SCN5A | c.1807T>A (p.Leu603Ile) c.1678T>A (p.Leu560Ile) | |
3 | g.38603796T>A | CA433332872 | SCN5A | c.1806A>T (p.Ser602=) c.1677A>T (p.Ser559=) | |
3 | g.38603796T>C | CA058837 | SCN5A | c.1806A>G (p.Ser602=) c.1677A>G (p.Ser559=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603796T>G | CA433332871 | SCN5A | c.1806A>C (p.Ser602=) c.1677A>C (p.Ser559=) | ClinVar gnomAD v4 |
3 | g.38603796T= | CA1358584863 | SCN5A | c.1806A= (p.Ser602=) c.1677A= (p.Ser559=) | |
3 | g.38603797G>A | CA352146077 | SCN5A | c.1805C>T (p.Ser602Leu) c.1676C>T (p.Ser559Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603797G>C | CA352146081 | SCN5A | c.1805C>G (p.Ser602Ter) c.1676C>G (p.Ser559Ter) | |
3 | g.38603797G= | CA1358584868 | SCN5A | c.1805C= (p.Ser602=) c.1676C= (p.Ser559=) | |
3 | g.38603797G>T | CA352146079 | SCN5A | c.1805C>A (p.Ser602Ter) c.1676C>A (p.Ser559Ter) | COSMIC COSMIC COSMIC |