Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
15 | g.73323354C>T | CA234112 | HCN4 | c.2739G>A (p.Ala913=) c.1521G>A (p.Ala507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323355G>A | CA7648962 | HCN4 | c.2738C>T (p.Ala913Val) c.1520C>T (p.Ala507Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323355G>C | CA393088218 | HCN4 | c.2738C>G (p.Ala913Gly) c.1520C>G (p.Ala507Gly) | |
15 | g.73323355G= | CA2187188097 | HCN4 | c.2738C= (p.Ala913=) c.1520C= (p.Ala507=) | |
15 | g.73323355G>T | CA393088220 | HCN4 | c.2738C>A (p.Ala913Glu) c.1520C>A (p.Ala507Glu) | gnomAD v4 |
15 | g.73323356C>A | CA393088223 | HCN4 | c.2737G>T (p.Ala913Ser) c.1519G>T (p.Ala507Ser) | dbSNP |
15 | g.73323356C= | CA2187188103 | HCN4 | c.2737G= (p.Ala913=) c.1519G= (p.Ala507=) | |
15 | g.73323356C>G | CA393088224 | HCN4 | c.2737G>C (p.Ala913Pro) c.1519G>C (p.Ala507Pro) | |
15 | g.73323356C>T | CA393088225 | HCN4 | c.2737G>A (p.Ala913Thr) c.1519G>A (p.Ala507Thr) | |
15 | g.73323357C>A | CA393088226 | HCN4 | c.2736G>T (p.Lys912Asn) c.1518G>T (p.Lys506Asn) | gnomAD v4 |
15 | g.73323357C>G | CA393088227 | HCN4 | c.2736G>C (p.Lys912Asn) c.1518G>C (p.Lys506Asn) | |
15 | g.73323357C>T | CA491478346 | HCN4 | c.2736G>A (p.Lys912=) c.1518G>A (p.Lys506=) | |
15 | g.73323358T>A | CA393088230 | HCN4 | c.2735A>T (p.Lys912Met) c.1517A>T (p.Lys506Met) | gnomAD v4 COSMIC |
15 | g.73323358T>C | CA393088231 | HCN4 | c.2735A>G (p.Lys912Arg) c.1517A>G (p.Lys506Arg) | |
15 | g.73323358T>G | CA393088233 | HCN4 | c.2735A>C (p.Lys912Thr) c.1517A>C (p.Lys506Thr) | |
15 | g.73323358T= | CA2187188106 | HCN4 | c.2735A= (p.Lys912=) c.1517A= (p.Lys506=) | |
15 | g.73323359T>A | CA393088237 | HCN4 | c.2734A>T (p.Lys912Ter) c.1516A>T (p.Lys506Ter) | gnomAD v4 |
15 | g.73323359T>C | CA393088236 | HCN4 | c.2734A>G (p.Lys912Glu) c.1516A>G (p.Lys506Glu) | gnomAD v4 |
15 | g.73323359T>G | CA393088234 | HCN4 | c.2734A>C (p.Lys912Gln) c.1516A>C (p.Lys506Gln) | gnomAD v4 |