Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23415225C>A | CA389035807 | MYH7 | c.5329G>T (p.Ala1777Ser) | |
14 | g.23415225C= | CA2123462531 | MYH7 | c.5329G= (p.Ala1777=) | |
14 | g.23415225C>G | CA389035808 | MYH7 | c.5329G>C (p.Ala1777Pro) | |
14 | g.23415225C>T | CA015952 | MYH7 | c.5329G>A (p.Ala1777Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415226G>A | CA046493 | MYH7 | c.5328C>T (p.Ser1776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415226G>C | CA389035811 | MYH7 | c.5328C>G (p.Ser1776Arg) | |
14 | g.23415226G= | CA2123462543 | MYH7 | c.5328C= (p.Ser1776=) | |
14 | g.23415226G>T | CA389035813 | MYH7 | c.5328C>A (p.Ser1776Arg) | |
14 | g.23415227C>A | CA389035815 | MYH7 | c.5327G>T (p.Ser1776Ile) | |
14 | g.23415227C>G | CA389035816 | MYH7 | c.5327G>C (p.Ser1776Thr) | |
14 | g.23415227C>T | CA389035818 | MYH7 | c.5327G>A (p.Ser1776Asn) | |
14 | g.23415228T>A | CA389035821 | MYH7 | c.5326A>T (p.Ser1776Cys) | |
14 | g.23415228T>C | CA015944 | MYH7 | c.5326A>G (p.Ser1776Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415228T>G | CA389035820 | MYH7 | c.5326A>C (p.Ser1776Arg) | |
14 | g.23415228T= | CA2123462558 | MYH7 | c.5326A= (p.Ser1776=) | |
14 | g.23415229G>A | CA485765859 | MYH7 | c.5325C>T (p.Thr1775=) | ClinVar |
14 | g.23415229G>C | CA485765860 | MYH7 | c.5325C>G (p.Thr1775=) | |
14 | g.23415229G>T | CA485765861 | MYH7 | c.5325C>A (p.Thr1775=) | |
14 | g.23415230G>A | CA389035823 | MYH7 | c.5324C>T (p.Thr1775Ile) | ClinVar dbSNP |
14 | g.23415230G>C | CA389035825 | MYH7 | c.5324C>G (p.Thr1775Ser) | |
14 | g.23415230G>T | CA389035826 | MYH7 | c.5324C>A (p.Thr1775Asn) | |
14 | g.23415231T>A | CA389035828 | MYH7 | c.5323A>T (p.Thr1775Ser) | |
14 | g.23415231T>C | CA389035829 | MYH7 | c.5323A>G (p.Thr1775Ala) | gnomAD v4 COSMIC |
14 | g.23415231T>G | CA389035831 | MYH7 | c.5323A>C (p.Thr1775Pro) | |
14 | g.23415232G>A | CA485765863 | MYH7 | c.5322C>T (p.Asp1774=) | |
14 | g.23415232G>C | CA389035833 | MYH7 | c.5322C>G (p.Asp1774Glu) | |
14 | g.23415232G>T | CA389035835 | MYH7 | c.5322C>A (p.Asp1774Glu) | |
14 | g.23415233T>A | CA389035836 | MYH7 | c.5321A>T (p.Asp1774Val) | |
14 | g.23415233T>C | CA389035837 | MYH7 | c.5321A>G (p.Asp1774Gly) | |
14 | g.23415233T>G | CA389035839 | MYH7 | c.5321A>C (p.Asp1774Ala) | |
14 | g.23415233_23415234delinsTC | CA2123462569 | MYH7 | c.5320_5321delinsGA (p.Asp1774=) | |
14 | g.23415234C>A | CA389035841 | MYH7 | c.5320G>T (p.Asp1774Tyr) | gnomAD v4 |
14 | g.23415234C>G | CA389035843 | MYH7 | c.5320G>C (p.Asp1774His) | |
14 | g.23415234C>T | CA389035844 | MYH7 | c.5320G>A (p.Asp1774Asn) | |
14 | g.23415235del | CA613317638 | MYH7 | c.5320del (p.Asp1774ThrfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23415235C>A | CA389035846 | MYH7 | c.5319G>T (p.Gln1773His) | |
14 | g.23415235C>G | CA389035845 | MYH7 | c.5319G>C (p.Gln1773His) | |
14 | g.23415235C>T | CA485765868 | MYH7 | c.5319G>A (p.Gln1773=) | ClinVar gnomAD v4 |
14 | g.23415236T>A | CA389035847 | MYH7 | c.5318A>T (p.Gln1773Leu) | |
14 | g.23415236T>C | CA389035850 | MYH7 | c.5318A>G (p.Gln1773Arg) | |
14 | g.23415236T>G | CA389035849 | MYH7 | c.5318A>C (p.Gln1773Pro) | |
14 | g.23415237G>A | CA389035852 | MYH7 | c.5317C>T (p.Gln1773Ter) | COSMIC |
14 | g.23415237G>C | CA389035853 | MYH7 | c.5317C>G (p.Gln1773Glu) | |
14 | g.23415237G= | CA2123462585 | MYH7 | c.5317C= (p.Gln1773=) | |
14 | g.23415237G>T | CA015939 | MYH7 | c.5317C>A (p.Gln1773Lys) | ClinVar dbSNP |
14 | g.23415237dup | CA2580087929 | MYH7 | c.5317dup (p.Gln1773ProfsTer19) | ClinVar |
14 | g.23415238C>A | CA389035854 | MYH7 | c.5316G>T (p.Glu1772Asp) | ClinVar |
14 | g.23415238C= | CA2123462590 | MYH7 | c.5316G= (p.Glu1772=) | |
14 | g.23415238C>G | CA389035856 | MYH7 | c.5316G>C (p.Glu1772Asp) | |
14 | g.23415238C>T | CA046459 | MYH7 | c.5316G>A (p.Glu1772=) | dbSNP ExAC gnomAD v2 gnomAD v4 |