Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73329711_73329727delinsCTGCCGCCCGTAGCCGA | CA2187167585 | HCN4 | c.1436_1452delinsTCGGCTACGGGCGGCAG (p.Ile479=) c.218_234delinsTCGGCTACGGGCGGCAG (p.Ile73=) | |
15 | g.73329715_73329730del | CA619410697 | HCN4 | c.1436_1451del (p.Ile479ArgfsTer16) c.218_233del (p.Ile73ArgfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73329719C>A | CA393093909 | HCN4 | c.1444G>T (p.Gly482Trp) c.226G>T (p.Gly76Trp) | |
15 | g.73329719C= | CA2187167606 | HCN4 | c.1444G= (p.Gly482=) c.226G= (p.Gly76=) | |
15 | g.73329719C>G | CA16043942 | HCN4 | c.1444G>C (p.Gly482Arg) c.226G>C (p.Gly76Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.73329719C>T | CA202778 | HCN4 | c.1444G>A (p.Gly482Arg) c.226G>A (p.Gly76Arg) | ClinVar dbSNP |
15 | g.73329720G>A | CA7649293 | HCN4 | c.1443C>T (p.Tyr481=) c.225C>T (p.Tyr75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73329720G>C | CA393093913 | HCN4 | c.1443C>G (p.Tyr481Ter) c.225C>G (p.Tyr75Ter) | |
15 | g.73329720G= | CA2187167618 | HCN4 | c.1443C= (p.Tyr481=) c.225C= (p.Tyr75=) | |
15 | g.73329720G>T | CA393093915 | HCN4 | c.1443C>A (p.Tyr481Ter) c.225C>A (p.Tyr75Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73329720_73329721delinsCA | CA2580089965 | HCN4 | c.1442_1443delinsTG (p.Tyr481Leu) c.224_225delinsTG (p.Tyr75Leu) | ClinVar |
15 | g.73329721T>A | CA393093917 | HCN4 | c.1442A>T (p.Tyr481Phe) c.224A>T (p.Tyr75Phe) | |
15 | g.73329721T>C | CA393093919 | HCN4 | c.1442A>G (p.Tyr481Cys) c.224A>G (p.Tyr75Cys) | ClinVar dbSNP gnomAD v4 |
15 | g.73329721T>G | CA393093921 | HCN4 | c.1442A>C (p.Tyr481Ser) c.224A>C (p.Tyr75Ser) | |
15 | g.73329722A= | CA2187167624 | HCN4 | c.1441T= (p.Tyr481=) c.223T= (p.Tyr75=) | |
15 | g.73329722A>C | CA393093923 | HCN4 | c.1441T>G (p.Tyr481Asp) c.223T>G (p.Tyr75Asp) | |
15 | g.73329722A>G | CA16043943 | HCN4 | c.1441T>C (p.Tyr481His) c.223T>C (p.Tyr75His) | ClinVar dbSNP |
15 | g.73329722A>T | CA393093925 | HCN4 | c.1441T>A (p.Tyr481Asn) c.223T>A (p.Tyr75Asn) | |
15 | g.73329723G>A | CA491151767 | HCN4 | c.1440C>T (p.Gly480=) c.222C>T (p.Gly74=) | |
15 | g.73329723G>C | CA491151763 | HCN4 | c.1440C>G (p.Gly480=) c.222C>G (p.Gly74=) | |
15 | g.73329723G>T | CA491151765 | HCN4 | c.1440C>A (p.Gly480=) c.222C>A (p.Gly74=) | gnomAD v4 |
15 | g.73329724C>A | CA16614737 | HCN4 | c.1439G>T (p.Gly480Val) c.221G>T (p.Gly74Val) | ClinVar dbSNP gnomAD v4 |
15 | g.73329724C= | CA2187167629 | HCN4 | c.1439G= (p.Gly480=) c.221G= (p.Gly74=) | |
15 | g.73329724C>G | CA393093928 | HCN4 | c.1439G>C (p.Gly480Ala) c.221G>C (p.Gly74Ala) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.73329724C>T | CA393093930 | HCN4 | c.1439G>A (p.Gly480Asp) c.221G>A (p.Gly74Asp) | |
15 | g.73329725C>A | CA393093937 | HCN4 | c.1438G>T (p.Gly480Cys) c.220G>T (p.Gly74Cys) | COSMIC |
15 | g.73329725C= | CA2187167635 | HCN4 | c.1438G= (p.Gly480=) c.220G= (p.Gly74=) | |
15 | g.73329725C>G | CA117313 | HCN4 | c.1438G>C (p.Gly480Arg) c.220G>C (p.Gly74Arg) | ClinVar dbSNP |
15 | g.73329725C>T | CA393093935 | HCN4 | c.1438G>A (p.Gly480Ser) c.220G>A (p.Gly74Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
15 | g.73329726G>A | CA7649294 | HCN4 | c.1437C>T (p.Ile479=) c.219C>T (p.Ile73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73329726G>C | CA393093940 | HCN4 | c.1437C>G (p.Ile479Met) c.219C>G (p.Ile73Met) | |
15 | g.73329726G= | CA2187167641 | HCN4 | c.1437C= (p.Ile479=) c.219C= (p.Ile73=) | |
15 | g.73329726G>T | CA491151777 | HCN4 | c.1437C>A (p.Ile479=) c.219C>A (p.Ile73=) | |
15 | g.73329727A>C | CA393093943 | HCN4 | c.1436T>G (p.Ile479Ser) c.218T>G (p.Ile73Ser) | |
15 | g.73329727A>G | CA393093945 | HCN4 | c.1436T>C (p.Ile479Thr) c.218T>C (p.Ile73Thr) | |
15 | g.73329727A>T | CA393093947 | HCN4 | c.1436T>A (p.Ile479Asn) c.218T>A (p.Ile73Asn) | |
15 | g.73329728T>A | CA393093949 | HCN4 | c.1435A>T (p.Ile479Phe) c.217A>T (p.Ile73Phe) | |
15 | g.73329728T>C | CA393093950 | HCN4 | c.1435A>G (p.Ile479Val) c.217A>G (p.Ile73Val) | gnomAD v4 |
15 | g.73329728T>G | CA393093951 | HCN4 | c.1435A>C (p.Ile479Leu) c.217A>C (p.Ile73Leu) | ClinVar dbSNP |
15 | g.73329728T= | CA2187167646 | HCN4 | c.1435A= (p.Ile479=) c.217A= (p.Ile73=) | |
15 | g.73329729G>A | CA272672110 | HCN4 | c.1434C>T (p.Cys478=) c.216C>T (p.Cys72=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.73329729G>C | CA393093952 | HCN4 | c.1434C>G (p.Cys478Trp) c.216C>G (p.Cys72Trp) | |
15 | g.73329729G= | CA2187167649 | HCN4 | c.1434C= (p.Cys478=) c.216C= (p.Cys72=) | |
15 | g.73329729G>T | CA393093954 | HCN4 | c.1434C>A (p.Cys478Ter) c.216C>A (p.Cys72Ter) | |
15 | g.73329730C>A | CA393093961 | HCN4 | c.1433G>T (p.Cys478Phe) c.215G>T (p.Cys72Phe) | |
15 | g.73329730C>G | CA393093959 | HCN4 | c.1433G>C (p.Cys478Ser) c.215G>C (p.Cys72Ser) | |
15 | g.73329730C>T | CA393093957 | HCN4 | c.1433G>A (p.Cys478Tyr) c.215G>A (p.Cys72Tyr) | ClinVar |
15 | g.73329731A>C | CA393093962 | HCN4 | c.1432T>G (p.Cys478Gly) c.214T>G (p.Cys72Gly) | |
15 | g.73329731A>G | CA393093964 | HCN4 | c.1432T>C (p.Cys478Arg) c.214T>C (p.Cys72Arg) | |
15 | g.73329731A>T | CA393093967 | HCN4 | c.1432T>A (p.Cys478Ser) c.214T>A (p.Cys72Ser) | gnomAD v4 |