Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73323341G>A | CA491478291 | HCN4 | c.2752C>T (p.Leu918=) c.1534C>T (p.Leu512=) | |
15 | g.73323341G>C | CA393088171 | HCN4 | c.2752C>G (p.Leu918Val) c.1534C>G (p.Leu512Val) | |
15 | g.73323341G>T | CA393088172 | HCN4 | c.2752C>A (p.Leu918Met) c.1534C>A (p.Leu512Met) | gnomAD v4 |
15 | g.73323342G>A | CA491478292 | HCN4 | c.2751C>T (p.Ser917=) c.1533C>T (p.Ser511=) | gnomAD v4 |
15 | g.73323342G>C | CA491478293 | HCN4 | c.2751C>G (p.Ser917=) c.1533C>G (p.Ser511=) | |
15 | g.73323342G>T | CA491478294 | HCN4 | c.2751C>A (p.Ser917=) c.1533C>A (p.Ser511=) | gnomAD v4 |
15 | g.73323343G>A | CA393088174 | HCN4 | c.2750C>T (p.Ser917Phe) c.1532C>T (p.Ser511Phe) | |
15 | g.73323343G>C | CA393088175 | HCN4 | c.2750C>G (p.Ser917Cys) c.1532C>G (p.Ser511Cys) | gnomAD v4 |
15 | g.73323343G>T | CA393088177 | HCN4 | c.2750C>A (p.Ser917Tyr) c.1532C>A (p.Ser511Tyr) | gnomAD v4 |
15 | g.73323344A>C | CA393088182 | HCN4 | c.2749T>G (p.Ser917Ala) c.1531T>G (p.Ser511Ala) | |
15 | g.73323344A>G | CA393088180 | HCN4 | c.2749T>C (p.Ser917Pro) c.1531T>C (p.Ser511Pro) | gnomAD v4 |
15 | g.73323344A>T | CA393088179 | HCN4 | c.2749T>A (p.Ser917Thr) c.1531T>A (p.Ser511Thr) | |
15 | g.73323345G>A | CA491478300 | HCN4 | c.2748C>T (p.Gly916=) c.1530C>T (p.Gly510=) | gnomAD v4 |
15 | g.73323345G>C | CA491478302 | HCN4 | c.2748C>G (p.Gly916=) c.1530C>G (p.Gly510=) | |
15 | g.73323345G>T | CA491478304 | HCN4 | c.2748C>A (p.Gly916=) c.1530C>A (p.Gly510=) | gnomAD v4 |
15 | g.73323346C>A | CA272664298 | HCN4 | c.2747G>T (p.Gly916Val) c.1529G>T (p.Gly510Val) | dbSNP gnomAD v4 |
15 | g.73323346C= | CA2187188072 | HCN4 | c.2747G= (p.Gly916=) c.1529G= (p.Gly510=) | |
15 | g.73323346C>G | CA393088189 | HCN4 | c.2747G>C (p.Gly916Ala) c.1529G>C (p.Gly510Ala) | |
15 | g.73323346C>T | CA393088185 | HCN4 | c.2747G>A (p.Gly916Asp) c.1529G>A (p.Gly510Asp) | gnomAD v4 |
15 | g.73323347C>A | CA393088191 | HCN4 | c.2746G>T (p.Gly916Cys) c.1528G>T (p.Gly510Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.73323347C= | CA2187188075 | HCN4 | c.2746G= (p.Gly916=) c.1528G= (p.Gly510=) | |
15 | g.73323347C>G | CA393088193 | HCN4 | c.2746G>C (p.Gly916Arg) c.1528G>C (p.Gly510Arg) | |
15 | g.73323347C>T | CA393088195 | HCN4 | c.2746G>A (p.Gly916Ser) c.1528G>A (p.Gly510Ser) | dbSNP gnomAD v4 |
15 | g.73323348A= | CA2187188080 | HCN4 | c.2745T= (p.Gly915=) c.1527T= (p.Gly509=) | |
15 | g.73323348A>C | CA491478311 | HCN4 | c.2745T>G (p.Gly915=) c.1527T>G (p.Gly509=) | |
15 | g.73323348A>G | CA491478313 | HCN4 | c.2745T>C (p.Gly915=) c.1527T>C (p.Gly509=) | |
15 | g.73323348A>T | CA491478314 | HCN4 | c.2745T>A (p.Gly915=) c.1527T>A (p.Gly509=) | ClinVar dbSNP gnomAD v4 |
15 | g.73323348dup | CA2629370566 | HCN4 | c.2745dup (p.Gly916TrpfsTer?) c.1527dup (p.Gly510TrpfsTer?) | gnomAD v4 |
15 | g.73323349C>A | CA393088197 | HCN4 | c.2744G>T (p.Gly915Val) c.1526G>T (p.Gly509Val) | |
15 | g.73323349C= | CA2187188083 | HCN4 | c.2744G= (p.Gly915=) c.1526G= (p.Gly509=) | |
15 | g.73323349C>G | CA393088198 | HCN4 | c.2744G>C (p.Gly915Ala) c.1526G>C (p.Gly509Ala) | |
15 | g.73323349C>T | CA393088200 | HCN4 | c.2744G>A (p.Gly915Asp) c.1526G>A (p.Gly509Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.73323351del | CA2580089981 | HCN4 | c.2744del (p.Gly915ValfsTer?) c.1526del (p.Gly509ValfsTer?) | ClinVar |
15 | g.73323350C>A | CA393088202 | HCN4 | c.2743G>T (p.Gly915Cys) c.1525G>T (p.Gly509Cys) | gnomAD v4 |
15 | g.73323350C= | CA2187188086 | HCN4 | c.2743G= (p.Gly915=) c.1525G= (p.Gly509=) | |
15 | g.73323350C>G | CA393088203 | HCN4 | c.2743G>C (p.Gly915Arg) c.1525G>C (p.Gly509Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73323350C>T | CA393088205 | HCN4 | c.2743G>A (p.Gly915Ser) c.1525G>A (p.Gly509Ser) | ClinVar gnomAD v4 |
15 | g.73323351C>A | CA491478319 | HCN4 | c.2742G>T (p.Leu914=) c.1524G>T (p.Leu508=) | gnomAD v4 |
15 | g.73323351C>G | CA491478320 | HCN4 | c.2742G>C (p.Leu914=) c.1524G>C (p.Leu508=) | |
15 | g.73323351C>T | CA491478321 | HCN4 | c.2742G>A (p.Leu914=) c.1524G>A (p.Leu508=) | |
15 | g.73323352A>C | CA393088207 | HCN4 | c.2741T>G (p.Leu914Arg) c.1523T>G (p.Leu508Arg) | |
15 | g.73323352A>G | CA393088209 | HCN4 | c.2741T>C (p.Leu914Pro) c.1523T>C (p.Leu508Pro) | |
15 | g.73323352A>T | CA393088211 | HCN4 | c.2741T>A (p.Leu914Gln) c.1523T>A (p.Leu508Gln) | gnomAD v4 |
15 | g.73323353G>A | CA491478332 | HCN4 | c.2740C>T (p.Leu914=) c.1522C>T (p.Leu508=) | gnomAD v4 |
15 | g.73323353G>C | CA393088215 | HCN4 | c.2740C>G (p.Leu914Val) c.1522C>G (p.Leu508Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73323353G= | CA2187188089 | HCN4 | c.2740C= (p.Leu914=) c.1522C= (p.Leu508=) | |
15 | g.73323353G>T | CA393088213 | HCN4 | c.2740C>A (p.Leu914Met) c.1522C>A (p.Leu508Met) | gnomAD v4 |
15 | g.73323354C>A | CA491478336 | HCN4 | c.2739G>T (p.Ala913=) c.1521G>T (p.Ala507=) | ClinVar dbSNP gnomAD v4 |
15 | g.73323354C= | CA2187188093 | HCN4 | c.2739G= (p.Ala913=) c.1521G= (p.Ala507=) | |
15 | g.73323354C>G | CA491478333 | HCN4 | c.2739G>C (p.Ala913=) c.1521G>C (p.Ala507=) | gnomAD v4 |