Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73323159_73323250del | CA619410578 | HCN4 | c.2852_2943del (p.Gly951ValfsTer21) c.1634_1725del (p.Gly545ValfsTer21) | gnomAD v2 |
15 | g.73323226_73323243delinsCC | CA2573151086 | HCN4 | c.2850_2867delinsGG (p.Leu952ThrfsTer28) c.1632_1649delinsGG (p.Leu546ThrfsTer28) | ClinVar dbSNP |
15 | g.73323228C>A | CA491478873 | HCN4 | c.2865G>T (p.Pro955=) c.1647G>T (p.Pro549=) | gnomAD v4 |
15 | g.73323228C= | CA2187187759 | HCN4 | c.2865G= (p.Pro955=) c.1647G= (p.Pro549=) | |
15 | g.73323228C>G | CA491478874 | HCN4 | c.2865G>C (p.Pro955=) c.1647G>C (p.Pro549=) | |
15 | g.73323228C>T | CA491478875 | HCN4 | c.2865G>A (p.Pro955=) c.1647G>A (p.Pro549=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.73323229G>A | CA7648936 | HCN4 | c.2864C>T (p.Pro955Leu) c.1646C>T (p.Pro549Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73323229G>C | CA393087235 | HCN4 | c.2864C>G (p.Pro955Arg) c.1646C>G (p.Pro549Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.73323229G= | CA2187187774 | HCN4 | c.2864C= (p.Pro955=) c.1646C= (p.Pro549=) | |
15 | g.73323229G>T | CA7648937 | HCN4 | c.2864C>A (p.Pro955Gln) c.1646C>A (p.Pro549Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73323231del | CA2629370555 | HCN4 | c.2864del (p.Pro955ArgfsTer30) c.1646del (p.Pro549ArgfsTer30) | gnomAD v4 |
15 | g.73323230G>A | CA7648938 | HCN4 | c.2863C>T (p.Pro955Ser) c.1645C>T (p.Pro549Ser) | ClinVar dbSNP ExAC gnomAD v4 |
15 | g.73323230G>C | CA393087242 | HCN4 | c.2863C>G (p.Pro955Ala) c.1645C>G (p.Pro549Ala) | |
15 | g.73323230G= | CA2187187776 | HCN4 | c.2863C= (p.Pro955=) c.1645C= (p.Pro549=) | |
15 | g.73323230G>T | CA393087245 | HCN4 | c.2863C>A (p.Pro955Thr) c.1645C>A (p.Pro549Thr) | gnomAD v4 |
15 | g.73323231G>A | CA491478880 | HCN4 | c.2862C>T (p.Leu954=) c.1644C>T (p.Leu548=) | gnomAD v4 COSMIC |
15 | g.73323231G>C | CA491478882 | HCN4 | c.2862C>G (p.Leu954=) c.1644C>G (p.Leu548=) | |
15 | g.73323231G>T | CA491478884 | HCN4 | c.2862C>A (p.Leu954=) c.1644C>A (p.Leu548=) | gnomAD v4 |
15 | g.73323232del | CA2629370556 | HCN4 | c.2861del (p.Leu954ProfsTer?) c.1643del (p.Leu548ProfsTer?) | gnomAD v4 |
15 | g.73323232A>C | CA393087253 | HCN4 | c.2861T>G (p.Leu954Arg) c.1643T>G (p.Leu548Arg) | |
15 | g.73323232A>G | CA393087251 | HCN4 | c.2861T>C (p.Leu954Pro) c.1643T>C (p.Leu548Pro) | |
15 | g.73323232A>T | CA393087248 | HCN4 | c.2861T>A (p.Leu954His) c.1643T>A (p.Leu548His) | |
15 | g.73323233G>A | CA393087256 | HCN4 | c.2860C>T (p.Leu954Phe) c.1642C>T (p.Leu548Phe) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73323233G>C | CA393087259 | HCN4 | c.2860C>G (p.Leu954Val) c.1642C>G (p.Leu548Val) | COSMIC |
15 | g.73323233G= | CA2187187778 | HCN4 | c.2860C= (p.Leu954=) c.1642C= (p.Leu548=) | |
15 | g.73323233G>T | CA393087262 | HCN4 | c.2860C>A (p.Leu954Ile) c.1642C>A (p.Leu548Ile) | gnomAD v4 |
15 | g.73323234T>A | CA491478891 | HCN4 | c.2859A>T (p.Gly953=) c.1641A>T (p.Gly547=) | |
15 | g.73323234T>C | CA491478892 | HCN4 | c.2859A>G (p.Gly953=) c.1641A>G (p.Gly547=) | |
15 | g.73323234T>G | CA491478890 | HCN4 | c.2859A>C (p.Gly953=) c.1641A>C (p.Gly547=) | |
15 | g.73323235C>A | CA393087265 | HCN4 | c.2858G>T (p.Gly953Val) c.1640G>T (p.Gly547Val) | gnomAD v4 |
15 | g.73323235C= | CA2187187782 | HCN4 | c.2858G= (p.Gly953=) c.1640G= (p.Gly547=) | |
15 | g.73323235C>G | CA393087268 | HCN4 | c.2858G>C (p.Gly953Ala) c.1640G>C (p.Gly547Ala) | |
15 | g.73323235C>T | CA393087270 | HCN4 | c.2858G>A (p.Gly953Glu) c.1640G>A (p.Gly547Glu) | ClinVar dbSNP gnomAD v4 |
15 | g.73323237del | CA2629370557 | HCN4 | c.2858del (p.Gly953AspfsTer?) c.1640del (p.Gly547AspfsTer?) | ClinVar gnomAD v4 |
15 | g.73323236_73323237del | CA2629370558 | HCN4 | c.2857_2858del (p.Gly953ThrfsTer18) c.1639_1640del (p.Gly547ThrfsTer18) | gnomAD v4 |
15 | g.73323236C>A | CA393087275 | HCN4 | c.2857G>T (p.Gly953Ter) c.1639G>T (p.Gly547Ter) | gnomAD v4 |
15 | g.73323236C>G | CA393087277 | HCN4 | c.2857G>C (p.Gly953Arg) c.1639G>C (p.Gly547Arg) | |
15 | g.73323236C>T | CA393087280 | HCN4 | c.2857G>A (p.Gly953Arg) c.1639G>A (p.Gly547Arg) | gnomAD v4 |
15 | g.73323237C>A | CA491478901 | HCN4 | c.2856G>T (p.Leu952=) c.1638G>T (p.Leu546=) | gnomAD v4 |
15 | g.73323237C>G | CA491478904 | HCN4 | c.2856G>C (p.Leu952=) c.1638G>C (p.Leu546=) | |
15 | g.73323237C>T | CA491478907 | HCN4 | c.2856G>A (p.Leu952=) c.1638G>A (p.Leu546=) | ClinVar dbSNP gnomAD v4 |
15 | g.73323238A>C | CA393087283 | HCN4 | c.2855T>G (p.Leu952Arg) c.1637T>G (p.Leu546Arg) | |
15 | g.73323238A>G | CA393087285 | HCN4 | c.2855T>C (p.Leu952Pro) c.1637T>C (p.Leu546Pro) | gnomAD v4 |
15 | g.73323238A>T | CA393087287 | HCN4 | c.2855T>A (p.Leu952Gln) c.1637T>A (p.Leu546Gln) | gnomAD v4 |
15 | g.73323239G>A | CA491478908 | HCN4 | c.2854C>T (p.Leu952=) c.1636C>T (p.Leu546=) | |
15 | g.73323239G>C | CA393087289 | HCN4 | c.2854C>G (p.Leu952Val) c.1636C>G (p.Leu546Val) | |
15 | g.73323239G>T | CA393087291 | HCN4 | c.2854C>A (p.Leu952Met) c.1636C>A (p.Leu546Met) | gnomAD v4 |
15 | g.73323240G>A | CA491478913 | HCN4 | c.2853C>T (p.Gly951=) c.1635C>T (p.Gly545=) | gnomAD v4 |
15 | g.73323240G>C | CA491478912 | HCN4 | c.2853C>G (p.Gly951=) c.1635C>G (p.Gly545=) | |
15 | g.73323240G>T | CA491478911 | HCN4 | c.2853C>A (p.Gly951=) c.1635C>A (p.Gly545=) | gnomAD v4 |