UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.210804043G>A | CA344874292 | KCNH1 | c.1586C>T (p.Pro529Leu) c.1505C>T (p.Pro502Leu) c.919C>T c.434C>T (p.Pro145Leu) c.*91C>T (n.*91C>T) c.311-28499C>T (n.311-28499C>T) c.410C>T (p.Pro137Leu) | |
| 1 | g.210804043G>C | CA344874294 | KCNH1 | c.1586C>G (p.Pro529Arg) c.1505C>G (p.Pro502Arg) c.919C>G c.434C>G (p.Pro145Arg) c.*91C>G (n.*91C>G) c.311-28499C>G (n.311-28499C>G) c.410C>G (p.Pro137Arg) | |
| 1 | g.210804043G>T | CA344874295 | KCNH1 | c.1586C>A (p.Pro529Gln) c.1505C>A (p.Pro502Gln) c.919C>A c.434C>A (p.Pro145Gln) c.*91C>A (n.*91C>A) c.311-28499C>A (n.311-28499C>A) c.410C>A (p.Pro137Gln) | |
| 1 | g.210804044G>A | CA344874298 | KCNH1 | c.1585C>T (p.Pro529Ser) c.1504C>T (p.Pro502Ser) c.918C>T c.433C>T (p.Pro145Ser) c.*90C>T (n.*90C>T) c.311-28500C>T (n.311-28500C>T) c.409C>T (p.Pro137Ser) | |
| 1 | g.210804044G>C | CA344874300 | KCNH1 | c.1585C>G (p.Pro529Ala) c.1504C>G (p.Pro502Ala) c.918C>G c.433C>G (p.Pro145Ala) c.*90C>G (n.*90C>G) c.311-28500C>G (n.311-28500C>G) c.409C>G (p.Pro137Ala) | |
| 1 | g.210804044G>T | CA344874301 | KCNH1 | c.1585C>A (p.Pro529Thr) c.1504C>A (p.Pro502Thr) c.918C>A c.433C>A (p.Pro145Thr) c.*90C>A (n.*90C>A) c.311-28500C>A (n.311-28500C>A) c.409C>A (p.Pro137Thr) | |
| 1 | g.210804045C>A | CA423102110 | KCNH1 | c.1584G>T (p.Val528=) c.1503G>T (p.Val501=) c.917G>T c.432G>T (p.Val144=) c.*89G>T (n.*89G>T) c.311-28501G>T (n.311-28501G>T) c.408G>T (p.Val136=) | ClinVar |
| 1 | g.210804045C>G | CA423102109 | KCNH1 | c.1584G>C (p.Val528=) c.1503G>C (p.Val501=) c.917G>C c.432G>C (p.Val144=) c.*89G>C (n.*89G>C) c.311-28501G>C (n.311-28501G>C) c.408G>C (p.Val136=) | |
| 1 | g.210804045C>T | CA423102108 | KCNH1 | c.1584G>A (p.Val528=) c.1503G>A (p.Val501=) c.917G>A c.432G>A (p.Val144=) c.*89G>A (n.*89G>A) c.311-28501G>A (n.311-28501G>A) c.408G>A (p.Val136=) | |
| 1 | g.210804046A>C | CA344874304 | KCNH1 | c.1583T>G (p.Val528Gly) c.1502T>G (p.Val501Gly) c.916T>G c.431T>G (p.Val144Gly) c.*88T>G (n.*88T>G) c.311-28502T>G (n.311-28502T>G) c.407T>G (p.Val136Gly) | |
| 1 | g.210804046A>G | CA344874305 | KCNH1 | c.1583T>C (p.Val528Ala) c.1502T>C (p.Val501Ala) c.916T>C c.431T>C (p.Val144Ala) c.*88T>C (n.*88T>C) c.311-28502T>C (n.311-28502T>C) c.407T>C (p.Val136Ala) | |
| 1 | g.210804046A>T | CA344874307 | KCNH1 | c.1583T>A (p.Val528Glu) c.1502T>A (p.Val501Glu) c.916T>A c.431T>A (p.Val144Glu) c.*88T>A (n.*88T>A) c.311-28502T>A (n.311-28502T>A) c.407T>A (p.Val136Glu) | |
| 1 | g.210804047C>A | CA344874311 | KCNH1 | c.1582G>T (p.Val528Leu) c.1501G>T (p.Val501Leu) c.915G>T c.430G>T (p.Val144Leu) c.*87G>T (n.*87G>T) c.311-28503G>T (n.311-28503G>T) c.406G>T (p.Val136Leu) | gnomAD v4 |
| 1 | g.210804047C>G | CA344874312 | KCNH1 | c.1582G>C (p.Val528Leu) c.1501G>C (p.Val501Leu) c.915G>C c.430G>C (p.Val144Leu) c.*87G>C (n.*87G>C) c.311-28503G>C (n.311-28503G>C) c.406G>C (p.Val136Leu) | |
| 1 | g.210804047C>T | CA344874309 | KCNH1 | c.1582G>A (p.Val528Met) c.1501G>A (p.Val501Met) c.915G>A c.430G>A (p.Val144Met) c.*87G>A (n.*87G>A) c.311-28503G>A (n.311-28503G>A) c.406G>A (p.Val136Met) | gnomAD v4 |
| 1 | g.210804048C>A | CA344874313 | KCNH1 | c.1581G>T (p.Gln527His) c.1500G>T (p.Gln500His) c.914G>T c.429G>T (p.Gln143His) c.*86G>T (n.*86G>T) c.311-28504G>T (n.311-28504G>T) c.405G>T (p.Gln135His) | |
| 1 | g.210804048C>G | CA344874314 | KCNH1 | c.1581G>C (p.Gln527His) c.1500G>C (p.Gln500His) c.914G>C c.429G>C (p.Gln143His) c.*86G>C (n.*86G>C) c.311-28504G>C (n.311-28504G>C) c.405G>C (p.Gln135His) | |
| 1 | g.210804048C>T | CA423102111 | KCNH1 | c.1581G>A (p.Gln527=) c.1500G>A (p.Gln500=) c.914G>A c.429G>A (p.Gln143=) c.*86G>A (n.*86G>A) c.311-28504G>A (n.311-28504G>A) c.405G>A (p.Gln135=) | gnomAD v4 |
| 1 | g.210804049T>A | CA344874315 | KCNH1 | c.1580A>T (p.Gln527Leu) c.1499A>T (p.Gln500Leu) c.913A>T c.428A>T (p.Gln143Leu) c.*85A>T (n.*85A>T) c.311-28505A>T (n.311-28505A>T) c.404A>T (p.Gln135Leu) | |
| 1 | g.210804049T>C | CA344874316 | KCNH1 | c.1580A>G (p.Gln527Arg) c.1499A>G (p.Gln500Arg) c.913A>G c.428A>G (p.Gln143Arg) c.*85A>G (n.*85A>G) c.311-28505A>G (n.311-28505A>G) c.404A>G (p.Gln135Arg) | |
| 1 | g.210804049T>G | CA344874318 | KCNH1 | c.1580A>C (p.Gln527Pro) c.1499A>C (p.Gln500Pro) c.913A>C c.428A>C (p.Gln143Pro) c.*85A>C (n.*85A>C) c.311-28505A>C (n.311-28505A>C) c.404A>C (p.Gln135Pro) | |
| 1 | g.210804050G>A | CA344874326 | KCNH1 | c.1579C>T (p.Gln527Ter) c.1498C>T (p.Gln500Ter) c.912C>T c.427C>T (p.Gln143Ter) c.*84C>T (n.*84C>T) c.311-28506C>T (n.311-28506C>T) c.403C>T (p.Gln135Ter) | ClinVar |
| 1 | g.210804050G>C | CA344874321 | KCNH1 | c.1579C>G (p.Gln527Glu) c.1498C>G (p.Gln500Glu) c.912C>G c.427C>G (p.Gln143Glu) c.*84C>G (n.*84C>G) c.311-28506C>G (n.311-28506C>G) c.403C>G (p.Gln135Glu) | |
| 1 | g.210804050G>T | CA344874324 | KCNH1 | c.1579C>A (p.Gln527Lys) c.1498C>A (p.Gln500Lys) c.912C>A c.427C>A (p.Gln143Lys) c.*84C>A (n.*84C>A) c.311-28506C>A (n.311-28506C>A) c.403C>A (p.Gln135Lys) | |
| 1 | g.210804051G>A | CA423102112 | KCNH1 | c.1578C>T (p.Tyr526=) c.1497C>T (p.Tyr499=) c.911C>T c.426C>T (p.Tyr142=) c.*83C>T (n.*83C>T) c.311-28507C>T (n.311-28507C>T) c.402C>T (p.Tyr134=) | gnomAD v4 |
| 1 | g.210804051G>C | CA344874327 | KCNH1 | c.1578C>G (p.Tyr526Ter) c.1497C>G (p.Tyr499Ter) c.911C>G c.426C>G (p.Tyr142Ter) c.*83C>G (n.*83C>G) c.311-28507C>G (n.311-28507C>G) c.402C>G (p.Tyr134Ter) | |
| 1 | g.210804051G>T | CA344874329 | KCNH1 | c.1578C>A (p.Tyr526Ter) c.1497C>A (p.Tyr499Ter) c.911C>A c.426C>A (p.Tyr142Ter) c.*83C>A (n.*83C>A) c.311-28507C>A (n.311-28507C>A) c.402C>A (p.Tyr134Ter) | |
| 1 | g.210804052T>A | CA344874331 | KCNH1 | c.1577A>T (p.Tyr526Phe) c.1496A>T (p.Tyr499Phe) c.910A>T c.425A>T (p.Tyr142Phe) c.*82A>T (n.*82A>T) c.311-28508A>T (n.311-28508A>T) c.401A>T (p.Tyr134Phe) | |
| 1 | g.210804052T>C | CA344874333 | KCNH1 | c.1577A>G (p.Tyr526Cys) c.1496A>G (p.Tyr499Cys) c.910A>G c.425A>G (p.Tyr142Cys) c.*82A>G (n.*82A>G) c.311-28508A>G (n.311-28508A>G) c.401A>G (p.Tyr134Cys) | COSMIC |
| 1 | g.210804052T>G | CA344874335 | KCNH1 | c.1577A>C (p.Tyr526Ser) c.1496A>C (p.Tyr499Ser) c.910A>C c.425A>C (p.Tyr142Ser) c.*82A>C (n.*82A>C) c.311-28508A>C (n.311-28508A>C) c.401A>C (p.Tyr134Ser) | |
| 1 | g.210804053A>C | CA344874341 | KCNH1 | c.1576T>G (p.Tyr526Asp) c.1495T>G (p.Tyr499Asp) c.909T>G c.424T>G (p.Tyr142Asp) c.*81T>G (n.*81T>G) c.311-28509T>G (n.311-28509T>G) c.400T>G (p.Tyr134Asp) | |
| 1 | g.210804053A>G | CA344874339 | KCNH1 | c.1576T>C (p.Tyr526His) c.1495T>C (p.Tyr499His) c.909T>C c.424T>C (p.Tyr142His) c.*81T>C (n.*81T>C) c.311-28509T>C (n.311-28509T>C) c.400T>C (p.Tyr134His) | |
| 1 | g.210804053A>T | CA344874337 | KCNH1 | c.1576T>A (p.Tyr526Asn) c.1495T>A (p.Tyr499Asn) c.909T>A c.424T>A (p.Tyr142Asn) c.*81T>A (n.*81T>A) c.311-28509T>A (n.311-28509T>A) c.400T>A (p.Tyr134Asn) | |
| 1 | g.210804054G>A | CA423102113 | KCNH1 | c.1575C>T (p.Leu525=) c.1494C>T (p.Leu498=) c.908C>T c.423C>T (p.Leu141=) c.*80C>T (n.*80C>T) c.311-28510C>T (n.311-28510C>T) c.399C>T (p.Leu133=) | |
| 1 | g.210804054G>C | CA423102115 | KCNH1 | c.1575C>G (p.Leu525=) c.1494C>G (p.Leu498=) c.908C>G c.423C>G (p.Leu141=) c.*80C>G (n.*80C>G) c.311-28510C>G (n.311-28510C>G) c.399C>G (p.Leu133=) | |
| 1 | g.210804054G>T | CA423102114 | KCNH1 | c.1575C>A (p.Leu525=) c.1494C>A (p.Leu498=) c.908C>A c.423C>A (p.Leu141=) c.*80C>A (n.*80C>A) c.311-28510C>A (n.311-28510C>A) c.399C>A (p.Leu133=) | |
| 1 | g.210804055A>C | CA344874342 | KCNH1 | c.1574T>G (p.Leu525Arg) c.1493T>G (p.Leu498Arg) c.907T>G c.422T>G (p.Leu141Arg) c.*79T>G (n.*79T>G) c.311-28511T>G (n.311-28511T>G) c.398T>G (p.Leu133Arg) | |
| 1 | g.210804055A>G | CA344874343 | KCNH1 | c.1574T>C (p.Leu525Pro) c.1493T>C (p.Leu498Pro) c.907T>C c.422T>C (p.Leu141Pro) c.*79T>C (n.*79T>C) c.311-28511T>C (n.311-28511T>C) c.398T>C (p.Leu133Pro) | |
| 1 | g.210804055A>T | CA344874345 | KCNH1 | c.1574T>A (p.Leu525His) c.1493T>A (p.Leu498His) c.907T>A c.422T>A (p.Leu141His) c.*79T>A (n.*79T>A) c.311-28511T>A (n.311-28511T>A) c.398T>A (p.Leu133His) | |
| 1 | g.210804056G>A | CA344874347 | KCNH1 | c.1573C>T (p.Leu525Phe) c.1492C>T (p.Leu498Phe) c.906C>T c.421C>T (p.Leu141Phe) c.*78C>T (n.*78C>T) c.311-28512C>T (n.311-28512C>T) c.397C>T (p.Leu133Phe) | |
| 1 | g.210804056G>C | CA344874349 | KCNH1 | c.1573C>G (p.Leu525Val) c.1492C>G (p.Leu498Val) c.906C>G c.421C>G (p.Leu141Val) c.*78C>G (n.*78C>G) c.311-28512C>G (n.311-28512C>G) c.397C>G (p.Leu133Val) | |
| 1 | g.210804056G>T | CA344874350 | KCNH1 | c.1573C>A (p.Leu525Ile) c.1492C>A (p.Leu498Ile) c.906C>A c.421C>A (p.Leu141Ile) c.*78C>A (n.*78C>A) c.311-28512C>A (n.311-28512C>A) c.397C>A (p.Leu133Ile) | |
| 1 | g.210804057C>A | CA344874355 | KCNH1 | c.1572G>T (p.Lys524Asn) c.1491G>T (p.Lys497Asn) c.905G>T c.420G>T (p.Lys140Asn) c.*77G>T (n.*77G>T) c.311-28513G>T (n.311-28513G>T) c.396G>T (p.Lys132Asn) | gnomAD v4 |
| 1 | g.210804057C= | CA2484788387 | KCNH1 | c.1572G= (p.Lys524=) c.1491G= (p.Lys497=) c.905G= c.420G= (p.Lys140=) c.*77G= (n.*77G=) c.311-28513G= (n.311-28513G=) c.396G= (p.Lys132=) | |
| 1 | g.210804057C>G | CA344874353 | KCNH1 | c.1572G>C (p.Lys524Asn) c.1491G>C (p.Lys497Asn) c.905G>C c.420G>C (p.Lys140Asn) c.*77G>C (n.*77G>C) c.311-28513G>C (n.311-28513G>C) c.396G>C (p.Lys132Asn) | |
| 1 | g.210804057C>T | CA423102116 | KCNH1 | c.1572G>A (p.Lys524=) c.1491G>A (p.Lys497=) c.905G>A c.420G>A (p.Lys140=) c.*77G>A (n.*77G>A) c.311-28513G>A (n.311-28513G>A) c.396G>A (p.Lys132=) | dbSNP gnomAD v4 |
| 1 | g.210804058T>A | CA344874358 | KCNH1 | c.1571A>T (p.Lys524Met) c.1490A>T (p.Lys497Met) c.904A>T c.419A>T (p.Lys140Met) c.*76A>T (n.*76A>T) c.311-28514A>T (n.311-28514A>T) c.395A>T (p.Lys132Met) | |
| 1 | g.210804058T>C | CA344874359 | KCNH1 | c.1571A>G (p.Lys524Arg) c.1490A>G (p.Lys497Arg) c.904A>G c.419A>G (p.Lys140Arg) c.*76A>G (n.*76A>G) c.311-28514A>G (n.311-28514A>G) c.395A>G (p.Lys132Arg) | |
| 1 | g.210804058T>G | CA344874361 | KCNH1 | c.1571A>C (p.Lys524Thr) c.1490A>C (p.Lys497Thr) c.904A>C c.419A>C (p.Lys140Thr) c.*76A>C (n.*76A>C) c.311-28514A>C (n.311-28514A>C) c.395A>C (p.Lys132Thr) | |
| 1 | g.210804059T>A | CA344874363 | KCNH1 | c.1570A>T (p.Lys524Ter) c.1489A>T (p.Lys497Ter) c.903A>T c.418A>T (p.Lys140Ter) c.*75A>T (n.*75A>T) c.311-28515A>T (n.311-28515A>T) c.394A>T (p.Lys132Ter) | |
| 1 | g.210804059T>C | CA344874365 | KCNH1 | c.1570A>G (p.Lys524Glu) c.1489A>G (p.Lys497Glu) c.903A>G c.418A>G (p.Lys140Glu) c.*75A>G (n.*75A>G) c.311-28515A>G (n.311-28515A>G) c.394A>G (p.Lys132Glu) | |
| 1 | g.210804059T>G | CA344874367 | KCNH1 | c.1570A>C (p.Lys524Gln) c.1489A>C (p.Lys497Gln) c.903A>C c.418A>C (p.Lys140Gln) c.*75A>C (n.*75A>C) c.311-28515A>C (n.311-28515A>C) c.394A>C (p.Lys132Gln) | |
| 1 | g.210804060C>A | CA423102118 | KCNH1 | c.1569G>T (p.Leu523=) c.1488G>T (p.Leu496=) c.902G>T c.417G>T (p.Leu139=) c.*74G>T (n.*74G>T) c.311-28516G>T (n.311-28516G>T) c.393G>T (p.Leu131=) | |
| 1 | g.210804060C>G | CA423102117 | KCNH1 | c.1569G>C (p.Leu523=) c.1488G>C (p.Leu496=) c.902G>C c.417G>C (p.Leu139=) c.*74G>C (n.*74G>C) c.311-28516G>C (n.311-28516G>C) c.393G>C (p.Leu131=) | |
| 1 | g.210804060C>T | CA423102119 | KCNH1 | c.1569G>A (p.Leu523=) c.1488G>A (p.Leu496=) c.902G>A c.417G>A (p.Leu139=) c.*74G>A (n.*74G>A) c.311-28516G>A (n.311-28516G>A) c.393G>A (p.Leu131=) | |
| 1 | g.210804061A>C | CA344874370 | KCNH1 | c.1568T>G (p.Leu523Arg) c.1487T>G (p.Leu496Arg) c.901T>G c.416T>G (p.Leu139Arg) c.*73T>G (n.*73T>G) c.311-28517T>G (n.311-28517T>G) c.392T>G (p.Leu131Arg) | |
| 1 | g.210804061A>G | CA344874368 | KCNH1 | c.1568T>C (p.Leu523Pro) c.1487T>C (p.Leu496Pro) c.901T>C c.416T>C (p.Leu139Pro) c.*73T>C (n.*73T>C) c.311-28517T>C (n.311-28517T>C) c.392T>C (p.Leu131Pro) | ClinVar |
| 1 | g.210804061A>T | CA344874369 | KCNH1 | c.1568T>A (p.Leu523Gln) c.1487T>A (p.Leu496Gln) c.901T>A c.416T>A (p.Leu139Gln) c.*73T>A (n.*73T>A) c.311-28517T>A (n.311-28517T>A) c.392T>A (p.Leu131Gln) | |
| 1 | g.210804062G>A | CA423102120 | KCNH1 | c.1567C>T (p.Leu523=) c.1486C>T (p.Leu496=) c.900C>T c.415C>T (p.Leu139=) c.*72C>T (n.*72C>T) c.311-28518C>T (n.311-28518C>T) c.391C>T (p.Leu131=) | |
| 1 | g.210804062G>C | CA344874371 | KCNH1 | c.1567C>G (p.Leu523Val) c.1486C>G (p.Leu496Val) c.900C>G c.415C>G (p.Leu139Val) c.*72C>G (n.*72C>G) c.311-28518C>G (n.311-28518C>G) c.391C>G (p.Leu131Val) | |
| 1 | g.210804062G>T | CA344874372 | KCNH1 | c.1567C>A (p.Leu523Met) c.1486C>A (p.Leu496Met) c.900C>A c.415C>A (p.Leu139Met) c.*72C>A (n.*72C>A) c.311-28518C>A (n.311-28518C>A) c.391C>A (p.Leu131Met) | |
| 1 | g.210804063G>A | CA1379859 | KCNH1 | c.1566C>T (p.Phe522=) c.1485C>T (p.Phe495=) c.899C>T c.414C>T (p.Phe138=) c.*71C>T (n.*71C>T) c.311-28519C>T (n.311-28519C>T) c.390C>T (p.Phe130=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.210804063G>C | CA344874373 | KCNH1 | c.1566C>G (p.Phe522Leu) c.1485C>G (p.Phe495Leu) c.899C>G c.414C>G (p.Phe138Leu) c.*71C>G (n.*71C>G) c.311-28519C>G (n.311-28519C>G) c.390C>G (p.Phe130Leu) | gnomAD v4 |
| 1 | g.210804063G= | CA1148461014 | KCNH1 | c.1566C= (p.Phe522=) c.1485C= (p.Phe495=) c.899C= c.414C= (p.Phe138=) c.*71C= (n.*71C=) c.311-28519C= (n.311-28519C=) c.390C= (p.Phe130=) | |
| 1 | g.210804063G>T | CA344874374 | KCNH1 | c.1566C>A (p.Phe522Leu) c.1485C>A (p.Phe495Leu) c.899C>A c.414C>A (p.Phe138Leu) c.*71C>A (n.*71C>A) c.311-28519C>A (n.311-28519C>A) c.390C>A (p.Phe130Leu) | |
| 1 | g.210804064A>C | CA344874375 | KCNH1 | c.1565T>G (p.Phe522Cys) c.1484T>G (p.Phe495Cys) c.898T>G c.413T>G (p.Phe138Cys) c.*70T>G (n.*70T>G) c.311-28520T>G (n.311-28520T>G) c.389T>G (p.Phe130Cys) | |
| 1 | g.210804064A>G | CA344874376 | KCNH1 | c.1565T>C (p.Phe522Ser) c.1484T>C (p.Phe495Ser) c.898T>C c.413T>C (p.Phe138Ser) c.*70T>C (n.*70T>C) c.311-28520T>C (n.311-28520T>C) c.389T>C (p.Phe130Ser) | |
| 1 | g.210804064A>T | CA344874377 | KCNH1 | c.1565T>A (p.Phe522Tyr) c.1484T>A (p.Phe495Tyr) c.898T>A c.413T>A (p.Phe138Tyr) c.*70T>A (n.*70T>A) c.311-28520T>A (n.311-28520T>A) c.389T>A (p.Phe130Tyr) | |
| 1 | g.210804065A>C | CA344874378 | KCNH1 | c.1564T>G (p.Phe522Val) c.1483T>G (p.Phe495Val) c.897T>G c.412T>G (p.Phe138Val) c.*69T>G (n.*69T>G) c.311-28521T>G (n.311-28521T>G) c.388T>G (p.Phe130Val) | |
| 1 | g.210804065A>G | CA344874379 | KCNH1 | c.1564T>C (p.Phe522Leu) c.1483T>C (p.Phe495Leu) c.897T>C c.412T>C (p.Phe138Leu) c.*69T>C (n.*69T>C) c.311-28521T>C (n.311-28521T>C) c.388T>C (p.Phe130Leu) | |
| 1 | g.210804065A>T | CA344874380 | KCNH1 | c.1564T>A (p.Phe522Ile) c.1483T>A (p.Phe495Ile) c.897T>A c.412T>A (p.Phe138Ile) c.*69T>A (n.*69T>A) c.311-28521T>A (n.311-28521T>A) c.388T>A (p.Phe130Ile) | |
| 1 | g.210804066G>A | CA423102121 | KCNH1 | c.1563C>T (p.Asp521=) c.1482C>T (p.Asp494=) c.896C>T c.411C>T (p.Asp137=) c.*68C>T (n.*68C>T) c.311-28522C>T (n.311-28522C>T) c.387C>T (p.Asp129=) | |
| 1 | g.210804066G>C | CA344874381 | KCNH1 | c.1563C>G (p.Asp521Glu) c.1482C>G (p.Asp494Glu) c.896C>G c.411C>G (p.Asp137Glu) c.*68C>G (n.*68C>G) c.311-28522C>G (n.311-28522C>G) c.387C>G (p.Asp129Glu) | |
| 1 | g.210804066G>T | CA344874382 | KCNH1 | c.1563C>A (p.Asp521Glu) c.1482C>A (p.Asp494Glu) c.896C>A c.411C>A (p.Asp137Glu) c.*68C>A (n.*68C>A) c.311-28522C>A (n.311-28522C>A) c.387C>A (p.Asp129Glu) | |
| 1 | g.210804067T>A | CA344874383 | KCNH1 | c.1562A>T (p.Asp521Val) c.1481A>T (p.Asp494Val) c.895A>T c.410A>T (p.Asp137Val) c.*67A>T (n.*67A>T) c.311-28523A>T (n.311-28523A>T) c.386A>T (p.Asp129Val) | |
| 1 | g.210804067T>C | CA344874385 | KCNH1 | c.1562A>G (p.Asp521Gly) c.1481A>G (p.Asp494Gly) c.895A>G c.410A>G (p.Asp137Gly) c.*67A>G (n.*67A>G) c.311-28523A>G (n.311-28523A>G) c.386A>G (p.Asp129Gly) | |
| 1 | g.210804067T>G | CA344874384 | KCNH1 | c.1562A>C (p.Asp521Ala) c.1481A>C (p.Asp494Ala) c.895A>C c.410A>C (p.Asp137Ala) c.*67A>C (n.*67A>C) c.311-28523A>C (n.311-28523A>C) c.386A>C (p.Asp129Ala) | |
| 1 | g.210804068C>A | CA344874386 | KCNH1 | c.1561G>T (p.Asp521Tyr) c.1480G>T (p.Asp494Tyr) c.894G>T c.409G>T (p.Asp137Tyr) c.*66G>T (n.*66G>T) c.311-28524G>T (n.311-28524G>T) c.385G>T (p.Asp129Tyr) | |
| 1 | g.210804068C>G | CA344874387 | KCNH1 | c.1561G>C (p.Asp521His) c.1480G>C (p.Asp494His) c.894G>C c.409G>C (p.Asp137His) c.*66G>C (n.*66G>C) c.311-28524G>C (n.311-28524G>C) c.385G>C (p.Asp129His) | |
| 1 | g.210804068C>T | CA344874388 | KCNH1 | c.1561G>A (p.Asp521Asn) c.1480G>A (p.Asp494Asn) c.894G>A c.409G>A (p.Asp137Asn) c.*66G>A (n.*66G>A) c.311-28524G>A (n.311-28524G>A) c.385G>A (p.Asp129Asn) | |
| 1 | g.210804069C>A | CA423102126 | KCNH1 | c.1560G>T (p.Arg520=) c.1479G>T (p.Arg493=) c.893G>T c.408G>T (p.Arg136=) c.*65G>T (n.*65G>T) c.311-28525G>T (n.311-28525G>T) c.384G>T (p.Arg128=) | |
| 1 | g.210804069C>G | CA423102124 | KCNH1 | c.1560G>C (p.Arg520=) c.1479G>C (p.Arg493=) c.893G>C c.408G>C (p.Arg136=) c.*65G>C (n.*65G>C) c.311-28525G>C (n.311-28525G>C) c.384G>C (p.Arg128=) | |
| 1 | g.210804069C>T | CA423102122 | KCNH1 | c.1560G>A (p.Arg520=) c.1479G>A (p.Arg493=) c.893G>A c.408G>A (p.Arg136=) c.*65G>A (n.*65G>A) c.311-28525G>A (n.311-28525G>A) c.384G>A (p.Arg128=) | |
| 1 | g.210804070C>A | CA344874389 | KCNH1 | c.1559G>T (p.Arg520Leu) c.1478G>T (p.Arg493Leu) c.892G>T c.407G>T (p.Arg136Leu) c.*64G>T (n.*64G>T) c.311-28526G>T (n.311-28526G>T) c.383G>T (p.Arg128Leu) | |
| 1 | g.210804070C= | CA2484788388 | KCNH1 | c.1559G= (p.Arg520=) c.1478G= (p.Arg493=) c.892G= c.407G= (p.Arg136=) c.*64G= (n.*64G=) c.311-28526G= (n.311-28526G=) c.383G= (p.Arg128=) | |
| 1 | g.210804070C>G | CA344874390 | KCNH1 | c.1559G>C (p.Arg520Pro) c.1478G>C (p.Arg493Pro) c.892G>C c.407G>C (p.Arg136Pro) c.*64G>C (n.*64G>C) c.311-28526G>C (n.311-28526G>C) c.383G>C (p.Arg128Pro) | |
| 1 | g.210804070C>T | CA344874391 | KCNH1 | c.1559G>A (p.Arg520Gln) c.1478G>A (p.Arg493Gln) c.892G>A c.407G>A (p.Arg136Gln) c.*64G>A (n.*64G>A) c.311-28526G>A (n.311-28526G>A) c.383G>A (p.Arg128Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.210804071G>A | CA344874392 | KCNH1 | c.1558C>T (p.Arg520Trp) c.1477C>T (p.Arg493Trp) c.891C>T c.406C>T (p.Arg136Trp) c.*63C>T (n.*63C>T) c.311-28527C>T (n.311-28527C>T) c.382C>T (p.Arg128Trp) | ClinVar COSMIC |
| 1 | g.210804071G>C | CA344874393 | KCNH1 | c.1558C>G (p.Arg520Gly) c.1477C>G (p.Arg493Gly) c.891C>G c.406C>G (p.Arg136Gly) c.*63C>G (n.*63C>G) c.311-28527C>G (n.311-28527C>G) c.382C>G (p.Arg128Gly) | |
| 1 | g.210804071G>T | CA423102127 | KCNH1 | c.1558C>A (p.Arg520=) c.1477C>A (p.Arg493=) c.891C>A c.406C>A (p.Arg136=) c.*63C>A (n.*63C>A) c.311-28527C>A (n.311-28527C>A) c.382C>A (p.Arg128=) | |
| 1 | g.210804072A>C | CA423102129 | KCNH1 | c.1557T>G (p.Val519=) c.1476T>G (p.Val492=) c.890T>G c.405T>G (p.Val135=) c.*62T>G (n.*62T>G) c.311-28528T>G (n.311-28528T>G) c.381T>G (p.Val127=) | |
| 1 | g.210804072A>G | CA423102128 | KCNH1 | c.1557T>C (p.Val519=) c.1476T>C (p.Val492=) c.890T>C c.405T>C (p.Val135=) c.*62T>C (n.*62T>C) c.311-28528T>C (n.311-28528T>C) c.381T>C (p.Val127=) | |
| 1 | g.210804072A>T | CA423102130 | KCNH1 | c.1557T>A (p.Val519=) c.1476T>A (p.Val492=) c.890T>A c.405T>A (p.Val135=) c.*62T>A (n.*62T>A) c.311-28528T>A (n.311-28528T>A) c.381T>A (p.Val127=) | |
| 1 | g.210804073A>C | CA344874394 | KCNH1 | c.1556T>G (p.Val519Gly) c.1475T>G (p.Val492Gly) c.889T>G c.404T>G (p.Val135Gly) c.*61T>G (n.*61T>G) c.311-28529T>G (n.311-28529T>G) c.380T>G (p.Val127Gly) | |
| 1 | g.210804073A>G | CA344874395 | KCNH1 | c.1556T>C (p.Val519Ala) c.1475T>C (p.Val492Ala) c.889T>C c.404T>C (p.Val135Ala) c.*61T>C (n.*61T>C) c.311-28529T>C (n.311-28529T>C) c.380T>C (p.Val127Ala) | |
| 1 | g.210804073A>T | CA344874396 | KCNH1 | c.1556T>A (p.Val519Asp) c.1475T>A (p.Val492Asp) c.889T>A c.404T>A (p.Val135Asp) c.*61T>A (n.*61T>A) c.311-28529T>A (n.311-28529T>A) c.380T>A (p.Val127Asp) | |
| 1 | g.210804074C>A | CA344874397 | KCNH1 | c.1555G>T (p.Val519Phe) c.1474G>T (p.Val492Phe) c.888G>T c.403G>T (p.Val135Phe) c.*60G>T (n.*60G>T) c.311-28530G>T (n.311-28530G>T) c.379G>T (p.Val127Phe) | |
| 1 | g.210804074C>G | CA344874398 | KCNH1 | c.1555G>C (p.Val519Leu) c.1474G>C (p.Val492Leu) c.888G>C c.403G>C (p.Val135Leu) c.*60G>C (n.*60G>C) c.311-28530G>C (n.311-28530G>C) c.379G>C (p.Val127Leu) | |
| 1 | g.210804074C>T | CA344874399 | KCNH1 | c.1555G>A (p.Val519Ile) c.1474G>A (p.Val492Ile) c.888G>A c.403G>A (p.Val135Ile) c.*60G>A (n.*60G>A) c.311-28530G>A (n.311-28530G>A) c.379G>A (p.Val127Ile) | gnomAD v4 |
| 1 | g.210804075A>C | CA344874400 | KCNH1 | c.1554T>G (p.Ser518Arg) c.1473T>G (p.Ser491Arg) c.887T>G c.402T>G (p.Ser134Arg) c.*59T>G (n.*59T>G) c.311-28531T>G (n.311-28531T>G) c.378T>G (p.Ser126Arg) | |
| 1 | g.210804075A>G | CA423102131 | KCNH1 | c.1554T>C (p.Ser518=) c.1473T>C (p.Ser491=) c.887T>C c.402T>C (p.Ser134=) c.*59T>C (n.*59T>C) c.311-28531T>C (n.311-28531T>C) c.378T>C (p.Ser126=) | gnomAD v4 |
| 1 | g.210804075A>T | CA344874401 | KCNH1 | c.1554T>A (p.Ser518Arg) c.1473T>A (p.Ser491Arg) c.887T>A c.402T>A (p.Ser134Arg) c.*59T>A (n.*59T>A) c.311-28531T>A (n.311-28531T>A) c.378T>A (p.Ser126Arg) | |
| 1 | g.210804076C>A | CA344874402 | KCNH1 | c.1553G>T (p.Ser518Ile) c.1472G>T (p.Ser491Ile) c.886G>T c.401G>T (p.Ser134Ile) c.*58G>T (n.*58G>T) c.311-28532G>T (n.311-28532G>T) c.377G>T (p.Ser126Ile) | |
| 1 | g.210804076C>G | CA344874403 | KCNH1 | c.1553G>C (p.Ser518Thr) c.1472G>C (p.Ser491Thr) c.886G>C c.401G>C (p.Ser134Thr) c.*58G>C (n.*58G>C) c.311-28532G>C (n.311-28532G>C) c.377G>C (p.Ser126Thr) | |
| 1 | g.210804076C>T | CA344874404 | KCNH1 | c.1553G>A (p.Ser518Asn) c.1472G>A (p.Ser491Asn) c.886G>A c.401G>A (p.Ser134Asn) c.*58G>A (n.*58G>A) c.311-28532G>A (n.311-28532G>A) c.377G>A (p.Ser126Asn) | |
| 1 | g.210804077T>A | CA344874405 | KCNH1 | c.1552A>T (p.Ser518Cys) c.1471A>T (p.Ser491Cys) c.885A>T c.400A>T (p.Ser134Cys) c.*57A>T (n.*57A>T) c.311-28533A>T (n.311-28533A>T) c.376A>T (p.Ser126Cys) | |
| 1 | g.210804077T>C | CA344874406 | KCNH1 | c.1552A>G (p.Ser518Gly) c.1471A>G (p.Ser491Gly) c.885A>G c.400A>G (p.Ser134Gly) c.*57A>G (n.*57A>G) c.311-28533A>G (n.311-28533A>G) c.376A>G (p.Ser126Gly) | |
| 1 | g.210804077T>G | CA344874407 | KCNH1 | c.1552A>C (p.Ser518Arg) c.1471A>C (p.Ser491Arg) c.885A>C c.400A>C (p.Ser134Arg) c.*57A>C (n.*57A>C) c.311-28533A>C (n.311-28533A>C) c.376A>C (p.Ser126Arg) | |
| 1 | g.210804078G>A | CA423102132 | KCNH1 | c.1551C>T (p.Asn517=) c.1470C>T (p.Asn490=) c.884C>T c.399C>T (p.Asn133=) c.*56C>T (n.*56C>T) c.311-28534C>T (n.311-28534C>T) c.375C>T (p.Asn125=) | gnomAD v4 COSMIC |
| 1 | g.210804078G>C | CA344874408 | KCNH1 | c.1551C>G (p.Asn517Lys) c.1470C>G (p.Asn490Lys) c.884C>G c.399C>G (p.Asn133Lys) c.*56C>G (n.*56C>G) c.311-28534C>G (n.311-28534C>G) c.375C>G (p.Asn125Lys) | |
| 1 | g.210804078G>T | CA344874409 | KCNH1 | c.1551C>A (p.Asn517Lys) c.1470C>A (p.Asn490Lys) c.884C>A c.399C>A (p.Asn133Lys) c.*56C>A (n.*56C>A) c.311-28534C>A (n.311-28534C>A) c.375C>A (p.Asn125Lys) | |
| 1 | g.210804079T>A | CA344874410 | KCNH1 | c.1550A>T (p.Asn517Ile) c.1469A>T (p.Asn490Ile) c.883A>T c.398A>T (p.Asn133Ile) c.*55A>T (n.*55A>T) c.311-28535A>T (n.311-28535A>T) c.374A>T (p.Asn125Ile) | |
| 1 | g.210804079T>C | CA344874411 | KCNH1 | c.1550A>G (p.Asn517Ser) c.1469A>G (p.Asn490Ser) c.883A>G c.398A>G (p.Asn133Ser) c.*55A>G (n.*55A>G) c.311-28535A>G (n.311-28535A>G) c.374A>G (p.Asn125Ser) | |
| 1 | g.210804079T>G | CA344874412 | KCNH1 | c.1550A>C (p.Asn517Thr) c.1469A>C (p.Asn490Thr) c.883A>C c.398A>C (p.Asn133Thr) c.*55A>C (n.*55A>C) c.311-28535A>C (n.311-28535A>C) c.374A>C (p.Asn125Thr) | |
| 1 | g.210804080T>A | CA344874415 | KCNH1 | c.1549A>T (p.Asn517Tyr) c.1468A>T (p.Asn490Tyr) c.882A>T c.397A>T (p.Asn133Tyr) c.*54A>T (n.*54A>T) c.311-28536A>T (n.311-28536A>T) c.373A>T (p.Asn125Tyr) | dbSNP |
| 1 | g.210804080T>C | CA344874414 | KCNH1 | c.1549A>G (p.Asn517Asp) c.1468A>G (p.Asn490Asp) c.882A>G c.397A>G (p.Asn133Asp) c.*54A>G (n.*54A>G) c.311-28536A>G (n.311-28536A>G) c.373A>G (p.Asn125Asp) | |
| 1 | g.210804080T>G | CA344874413 | KCNH1 | c.1549A>C (p.Asn517His) c.1468A>C (p.Asn490His) c.882A>C c.397A>C (p.Asn133His) c.*54A>C (n.*54A>C) c.311-28536A>C (n.311-28536A>C) c.373A>C (p.Asn125His) | |
| 1 | g.210804080T= | CA2484788389 | KCNH1 | c.1549A= (p.Asn517=) c.1468A= (p.Asn490=) c.882A= c.397A= (p.Asn133=) c.*54A= (n.*54A=) c.311-28536A= (n.311-28536A=) c.373A= (p.Asn125=) | |
| 1 | g.210804081G>A | CA423102135 | KCNH1 | c.1548C>T (p.Leu516=) c.1467C>T (p.Leu489=) c.881C>T c.396C>T (p.Leu132=) c.*53C>T (n.*53C>T) c.311-28537C>T (n.311-28537C>T) c.372C>T (p.Leu124=) | gnomAD v4 |
| 1 | g.210804081G>C | CA423102134 | KCNH1 | c.1548C>G (p.Leu516=) c.1467C>G (p.Leu489=) c.881C>G c.396C>G (p.Leu132=) c.*53C>G (n.*53C>G) c.311-28537C>G (n.311-28537C>G) c.372C>G (p.Leu124=) | |
| 1 | g.210804081G>T | CA423102133 | KCNH1 | c.1548C>A (p.Leu516=) c.1467C>A (p.Leu489=) c.881C>A c.396C>A (p.Leu132=) c.*53C>A (n.*53C>A) c.311-28537C>A (n.311-28537C>A) c.372C>A (p.Leu124=) | |
| 1 | g.210804082A= | CA2484788390 | KCNH1 | c.1547T= (p.Leu516=) c.1466T= (p.Leu489=) c.880T= c.395T= (p.Leu132=) c.*52T= (n.*52T=) c.311-28538T= (n.311-28538T=) c.371T= (p.Leu124=) | |
| 1 | g.210804082A>C | CA344874416 | KCNH1 | c.1547T>G (p.Leu516Arg) c.1466T>G (p.Leu489Arg) c.880T>G c.395T>G (p.Leu132Arg) c.*52T>G (n.*52T>G) c.311-28538T>G (n.311-28538T>G) c.371T>G (p.Leu124Arg) | dbSNP |
| 1 | g.210804082A>G | CA344874418 | KCNH1 | c.1547T>C (p.Leu516Pro) c.1466T>C (p.Leu489Pro) c.880T>C c.395T>C (p.Leu132Pro) c.*52T>C (n.*52T>C) c.311-28538T>C (n.311-28538T>C) c.371T>C (p.Leu124Pro) | ClinVar COSMIC |
| 1 | g.210804082A>T | CA344874417 | KCNH1 | c.1547T>A (p.Leu516His) c.1466T>A (p.Leu489His) c.880T>A c.395T>A (p.Leu132His) c.*52T>A (n.*52T>A) c.311-28538T>A (n.311-28538T>A) c.371T>A (p.Leu124His) | |
| 1 | g.210804083G>A | CA215047 | KCNH1 | c.1546C>T (p.Leu516Phe) c.1465C>T (p.Leu489Phe) c.879C>T c.394C>T (p.Leu132Phe) c.*51C>T (n.*51C>T) c.311-28539C>T (n.311-28539C>T) c.370C>T (p.Leu124Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.210804083G>C | CA344874420 | KCNH1 | c.1546C>G (p.Leu516Val) c.1465C>G (p.Leu489Val) c.879C>G c.394C>G (p.Leu132Val) c.*51C>G (n.*51C>G) c.311-28539C>G (n.311-28539C>G) c.370C>G (p.Leu124Val) | |
| 1 | g.210804083G= | CA1148224956 | KCNH1 | c.1546C= (p.Leu516=) c.1465C= (p.Leu489=) c.879C= c.394C= (p.Leu132=) c.*51C= (n.*51C=) c.311-28539C= (n.311-28539C=) c.370C= (p.Leu124=) | |
| 1 | g.210804083G>T | CA344874419 | KCNH1 | c.1546C>A (p.Leu516Ile) c.1465C>A (p.Leu489Ile) c.879C>A c.394C>A (p.Leu132Ile) c.*51C>A (n.*51C>A) c.311-28539C>A (n.311-28539C>A) c.370C>A (p.Leu124Ile) | ClinVar |
| 1 | g.210804084C>A | CA344874421 | KCNH1 | c.1545G>T (p.Met515Ile) c.1464G>T (p.Met488Ile) c.878G>T c.393G>T (p.Met131Ile) c.*50G>T (n.*50G>T) c.311-28540G>T (n.311-28540G>T) c.369G>T (p.Met123Ile) | |
| 1 | g.210804084C>G | CA344874423 | KCNH1 | c.1545G>C (p.Met515Ile) c.1464G>C (p.Met488Ile) c.878G>C c.393G>C (p.Met131Ile) c.*50G>C (n.*50G>C) c.311-28540G>C (n.311-28540G>C) c.369G>C (p.Met123Ile) | |
| 1 | g.210804084C>T | CA344874422 | KCNH1 | c.1545G>A (p.Met515Ile) c.1464G>A (p.Met488Ile) c.878G>A c.393G>A (p.Met131Ile) c.*50G>A (n.*50G>A) c.311-28540G>A (n.311-28540G>A) c.369G>A (p.Met123Ile) | ClinVar |
| 1 | g.210804085A= | CA2484788391 | KCNH1 | c.1544T= (p.Met515=) c.1463T= (p.Met488=) c.877T= c.392T= (p.Met131=) c.*49T= (n.*49T=) c.311-28541T= (n.311-28541T=) c.368T= (p.Met123=) | |
| 1 | g.210804085A>C | CA344874424 | KCNH1 | c.1544T>G (p.Met515Arg) c.1463T>G (p.Met488Arg) c.877T>G c.392T>G (p.Met131Arg) c.*49T>G (n.*49T>G) c.311-28541T>G (n.311-28541T>G) c.368T>G (p.Met123Arg) | |
| 1 | g.210804085A>G | CA344874426 | KCNH1 | c.1544T>C (p.Met515Thr) c.1463T>C (p.Met488Thr) c.877T>C c.392T>C (p.Met131Thr) c.*49T>C (n.*49T>C) c.311-28541T>C (n.311-28541T>C) c.368T>C (p.Met123Thr) | |
| 1 | g.210804085A>T | CA344874425 | KCNH1 | c.1544T>A (p.Met515Lys) c.1463T>A (p.Met488Lys) c.877T>A c.392T>A (p.Met131Lys) c.*49T>A (n.*49T>A) c.311-28541T>A (n.311-28541T>A) c.368T>A (p.Met123Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.210804086T>A | CA344874427 | KCNH1 | c.1543A>T (p.Met515Leu) c.1462A>T (p.Met488Leu) c.876A>T c.391A>T (p.Met131Leu) c.*48A>T (n.*48A>T) c.311-28542A>T (n.311-28542A>T) c.367A>T (p.Met123Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.210804086T>C | CA344874428 | KCNH1 | c.1543A>G (p.Met515Val) c.1462A>G (p.Met488Val) c.876A>G c.391A>G (p.Met131Val) c.*48A>G (n.*48A>G) c.311-28542A>G (n.311-28542A>G) c.367A>G (p.Met123Val) | |
| 1 | g.210804086T>G | CA344874429 | KCNH1 | c.1543A>C (p.Met515Leu) c.1462A>C (p.Met488Leu) c.876A>C c.391A>C (p.Met131Leu) c.*48A>C (n.*48A>C) c.311-28542A>C (n.311-28542A>C) c.367A>C (p.Met123Leu) | |
| 1 | g.210804086T= | CA2484788392 | KCNH1 | c.1543A= (p.Met515=) c.1462A= (p.Met488=) c.876A= c.391A= (p.Met131=) c.*48A= (n.*48A=) c.311-28542A= (n.311-28542A=) c.367A= (p.Met123=) | |
| 1 | g.210804087C>A | CA344874430 | KCNH1 | c.1542G>T (p.Glu514Asp) c.1461G>T (p.Glu487Asp) c.875G>T c.390G>T (p.Glu130Asp) c.*47G>T (n.*47G>T) c.311-28543G>T (n.311-28543G>T) c.366G>T (p.Glu122Asp) | |
| 1 | g.210804087C>G | CA344874431 | KCNH1 | c.1542G>C (p.Glu514Asp) c.1461G>C (p.Glu487Asp) c.875G>C c.390G>C (p.Glu130Asp) c.*47G>C (n.*47G>C) c.311-28543G>C (n.311-28543G>C) c.366G>C (p.Glu122Asp) | |
| 1 | g.210804087C>T | CA423102136 | KCNH1 | c.1542G>A (p.Glu514=) c.1461G>A (p.Glu487=) c.875G>A c.390G>A (p.Glu130=) c.*47G>A (n.*47G>A) c.311-28543G>A (n.311-28543G>A) c.366G>A (p.Glu122=) | |
| 1 | g.210804088T>A | CA344874432 | KCNH1 | c.1541A>T (p.Glu514Val) c.1460A>T (p.Glu487Val) c.874A>T c.389A>T (p.Glu130Val) c.*46A>T (n.*46A>T) c.311-28544A>T (n.311-28544A>T) c.365A>T (p.Glu122Val) | |
| 1 | g.210804088T>C | CA344874433 | KCNH1 | c.1541A>G (p.Glu514Gly) c.1460A>G (p.Glu487Gly) c.874A>G c.389A>G (p.Glu130Gly) c.*46A>G (n.*46A>G) c.311-28544A>G (n.311-28544A>G) c.365A>G (p.Glu122Gly) | |
| 1 | g.210804088T>G | CA344874434 | KCNH1 | c.1541A>C (p.Glu514Ala) c.1460A>C (p.Glu487Ala) c.874A>C c.389A>C (p.Glu130Ala) c.*46A>C (n.*46A>C) c.311-28544A>C (n.311-28544A>C) c.365A>C (p.Glu122Ala) | |
| 1 | g.210804089C>A | CA344874435 | KCNH1 | c.1540G>T (p.Glu514Ter) c.1459G>T (p.Glu487Ter) c.873G>T c.388G>T (p.Glu130Ter) c.*45G>T (n.*45G>T) c.311-28545G>T (n.311-28545G>T) c.364G>T (p.Glu122Ter) | |
| 1 | g.210804089C>G | CA344874436 | KCNH1 | c.1540G>C (p.Glu514Gln) c.1459G>C (p.Glu487Gln) c.873G>C c.388G>C (p.Glu130Gln) c.*45G>C (n.*45G>C) c.311-28545G>C (n.311-28545G>C) c.364G>C (p.Glu122Gln) | |
| 1 | g.210804089C>T | CA344874437 | KCNH1 | c.1540G>A (p.Glu514Lys) c.1459G>A (p.Glu487Lys) c.873G>A c.388G>A (p.Glu130Lys) c.*45G>A (n.*45G>A) c.311-28545G>A (n.311-28545G>A) c.364G>A (p.Glu122Lys) | |
| 1 | g.210804090A= | CA1148070555 | KCNH1 | c.1539T= (p.His513=) c.1458T= (p.His486=) c.872T= c.387T= (p.His129=) c.*44T= (n.*44T=) c.311-28546T= (n.311-28546T=) c.363T= (p.His121=) | |
| 1 | g.210804090A>C | CA344874439 | KCNH1 | c.1539T>G (p.His513Gln) c.1458T>G (p.His486Gln) c.872T>G c.387T>G (p.His129Gln) c.*44T>G (n.*44T>G) c.311-28546T>G (n.311-28546T>G) c.363T>G (p.His121Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.210804090A>G | CA37124780 | KCNH1 | c.1539T>C (p.His513=) c.1458T>C (p.His486=) c.872T>C c.387T>C (p.His129=) c.*44T>C (n.*44T>C) c.311-28546T>C (n.311-28546T>C) c.363T>C (p.His121=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.210804090A>T | CA344874438 | KCNH1 | c.1539T>A (p.His513Gln) c.1458T>A (p.His486Gln) c.872T>A c.387T>A (p.His129Gln) c.*44T>A (n.*44T>A) c.311-28546T>A (n.311-28546T>A) c.363T>A (p.His121Gln) | |
| 1 | g.210804091T>A | CA344874440 | KCNH1 | c.1538A>T (p.His513Leu) c.1457A>T (p.His486Leu) c.871A>T c.386A>T (p.His129Leu) c.*43A>T (n.*43A>T) c.311-28547A>T (n.311-28547A>T) c.362A>T (p.His121Leu) | |
| 1 | g.210804091T>C | CA344874441 | KCNH1 | c.1538A>G (p.His513Arg) c.1457A>G (p.His486Arg) c.871A>G c.386A>G (p.His129Arg) c.*43A>G (n.*43A>G) c.311-28547A>G (n.311-28547A>G) c.362A>G (p.His121Arg) | |
| 1 | g.210804091T>G | CA344874442 | KCNH1 | c.1538A>C (p.His513Pro) c.1457A>C (p.His486Pro) c.871A>C c.386A>C (p.His129Pro) c.*43A>C (n.*43A>C) c.311-28547A>C (n.311-28547A>C) c.362A>C (p.His121Pro) | |
| 1 | g.210804092G>A | CA344874443 | KCNH1 | c.1537C>T (p.His513Tyr) c.1456C>T (p.His486Tyr) c.870C>T c.385C>T (p.His129Tyr) c.*42C>T (n.*42C>T) c.311-28548C>T (n.311-28548C>T) c.361C>T (p.His121Tyr) | |
| 1 | g.210804092G>C | CA344874444 | KCNH1 | c.1537C>G (p.His513Asp) c.1456C>G (p.His486Asp) c.870C>G c.385C>G (p.His129Asp) c.*42C>G (n.*42C>G) c.311-28548C>G (n.311-28548C>G) c.361C>G (p.His121Asp) | |
| 1 | g.210804092G>T | CA344874445 | KCNH1 | c.1537C>A (p.His513Asn) c.1456C>A (p.His486Asn) c.870C>A c.385C>A (p.His129Asn) c.*42C>A (n.*42C>A) c.311-28548C>A (n.311-28548C>A) c.361C>A (p.His121Asn) | |
| 1 | g.210804092_210804093delinsAA | CA645531677 | KCNH1 | c.1536_1537delinsTT (p.His513Tyr) c.1455_1456delinsTT (p.His486Tyr) c.869_870delinsTT c.384_385delinsTT (p.His129Tyr) c.*41_*42delinsTT (n.*41_*42delinsTT) c.311-28549_311-28548delinsTT (n.311-28549_311-28548delinsTT) c.360_361delinsTT (p.His121Tyr) | COSMIC |
| 1 | g.210804093G>A | CA1379860 | KCNH1 | c.1536C>T (p.Tyr512=) c.1455C>T (p.Tyr485=) c.869C>T c.384C>T (p.Tyr128=) c.*41C>T (n.*41C>T) c.311-28549C>T (n.311-28549C>T) c.360C>T (p.Tyr120=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.210804093G>C | CA344874446 | KCNH1 | c.1536C>G (p.Tyr512Ter) c.1455C>G (p.Tyr485Ter) c.869C>G c.384C>G (p.Tyr128Ter) c.*41C>G (n.*41C>G) c.311-28549C>G (n.311-28549C>G) c.360C>G (p.Tyr120Ter) | |
| 1 | g.210804093G= | CA2484788393 | KCNH1 | c.1536C= (p.Tyr512=) c.1455C= (p.Tyr485=) c.869C= c.384C= (p.Tyr128=) c.*41C= (n.*41C=) c.311-28549C= (n.311-28549C=) c.360C= (p.Tyr120=) | |
| 1 | g.210804093G>T | CA344874447 | KCNH1 | c.1536C>A (p.Tyr512Ter) c.1455C>A (p.Tyr485Ter) c.869C>A c.384C>A (p.Tyr128Ter) c.*41C>A (n.*41C>A) c.311-28549C>A (n.311-28549C>A) c.360C>A (p.Tyr120Ter) | |
| 1 | g.210804094T>A | CA344874448 | KCNH1 | c.1535A>T (p.Tyr512Phe) c.1454A>T (p.Tyr485Phe) c.868A>T c.383A>T (p.Tyr128Phe) c.*40A>T (n.*40A>T) c.311-28550A>T (n.311-28550A>T) c.359A>T (p.Tyr120Phe) | |
| 1 | g.210804094T>C | CA344874449 | KCNH1 | c.1535A>G (p.Tyr512Cys) c.1454A>G (p.Tyr485Cys) c.868A>G c.383A>G (p.Tyr128Cys) c.*40A>G (n.*40A>G) c.311-28550A>G (n.311-28550A>G) c.359A>G (p.Tyr120Cys) | |
| 1 | g.210804094T>G | CA344874450 | KCNH1 | c.1535A>C (p.Tyr512Ser) c.1454A>C (p.Tyr485Ser) c.868A>C c.383A>C (p.Tyr128Ser) c.*40A>C (n.*40A>C) c.311-28550A>C (n.311-28550A>C) c.359A>C (p.Tyr120Ser) | |
| 1 | g.210804094T= | CA2484788394 | KCNH1 | c.1535A= (p.Tyr512=) c.1454A= (p.Tyr485=) c.868A= c.383A= (p.Tyr128=) c.*40A= (n.*40A=) c.311-28550A= (n.311-28550A=) c.359A= (p.Tyr120=) | |
| 1 | g.210804095A>C | CA344874453 | KCNH1 | c.1534T>G (p.Tyr512Asp) c.1453T>G (p.Tyr485Asp) c.867T>G c.382T>G (p.Tyr128Asp) c.*39T>G (n.*39T>G) c.311-28551T>G (n.311-28551T>G) c.358T>G (p.Tyr120Asp) | |
| 1 | g.210804095A>G | CA344874452 | KCNH1 | c.1534T>C (p.Tyr512His) c.1453T>C (p.Tyr485His) c.867T>C c.382T>C (p.Tyr128His) c.*39T>C (n.*39T>C) c.311-28551T>C (n.311-28551T>C) c.358T>C (p.Tyr120His) | gnomAD v4 COSMIC |
| 1 | g.210804095A>T | CA344874451 | KCNH1 | c.1534T>A (p.Tyr512Asn) c.1453T>A (p.Tyr485Asn) c.867T>A c.382T>A (p.Tyr128Asn) c.*39T>A (n.*39T>A) c.311-28551T>A (n.311-28551T>A) c.358T>A (p.Tyr120Asn) | |
| 1 | g.210804104_210804123dup | CA529003353 | KCNH1 | c.1515_1534dup (p.Tyr512CysfsTer19) c.1434_1453dup (p.Tyr485CysfsTer19) c.848_867dup c.363_382dup (p.Tyr128CysfsTer19) c.*20_*39dup (n.*20_*39dup) c.311-28570_311-28551dup (n.311-28570_311-28551dup) c.339_358dup (p.Tyr120CysfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.210804096T>A | CA344874455 | KCNH1 | c.1533A>T (p.Arg511Ser) c.1452A>T (p.Arg484Ser) c.866A>T c.381A>T (p.Arg127Ser) c.*38A>T (n.*38A>T) c.311-28552A>T (n.311-28552A>T) c.357A>T (p.Arg119Ser) | |
| 1 | g.210804096T>C | CA423102137 | KCNH1 | c.1533A>G (p.Arg511=) c.1452A>G (p.Arg484=) c.866A>G c.381A>G (p.Arg127=) c.*38A>G (n.*38A>G) c.311-28552A>G (n.311-28552A>G) c.357A>G (p.Arg119=) | |
| 1 | g.210804096T>G | CA344874454 | KCNH1 | c.1533A>C (p.Arg511Ser) c.1452A>C (p.Arg484Ser) c.866A>C c.381A>C (p.Arg127Ser) c.*38A>C (n.*38A>C) c.311-28552A>C (n.311-28552A>C) c.357A>C (p.Arg119Ser) | |
| 1 | g.210804097C>A | CA344874456 | KCNH1 | c.1532G>T (p.Arg511Ile) c.1451G>T (p.Arg484Ile) c.865G>T c.380G>T (p.Arg127Ile) c.*37G>T (n.*37G>T) c.311-28553G>T (n.311-28553G>T) c.356G>T (p.Arg119Ile) | |
| 1 | g.210804097C>G | CA344874457 | KCNH1 | c.1532G>C (p.Arg511Thr) c.1451G>C (p.Arg484Thr) c.865G>C c.380G>C (p.Arg127Thr) c.*37G>C (n.*37G>C) c.311-28553G>C (n.311-28553G>C) c.356G>C (p.Arg119Thr) | |
| 1 | g.210804097C>T | CA344874458 | KCNH1 | c.1532G>A (p.Arg511Lys) c.1451G>A (p.Arg484Lys) c.865G>A c.380G>A (p.Arg127Lys) c.*37G>A (n.*37G>A) c.311-28553G>A (n.311-28553G>A) c.356G>A (p.Arg119Lys) | |
| 1 | g.210804098T>A | CA344874459 | KCNH1 | c.1531A>T (p.Arg511Ter) c.1450A>T (p.Arg484Ter) c.864A>T c.379A>T (p.Arg127Ter) c.*36A>T (n.*36A>T) c.311-28554A>T (n.311-28554A>T) c.355A>T (p.Arg119Ter) | |
| 1 | g.210804098T>C | CA344874460 | KCNH1 | c.1531A>G (p.Arg511Gly) c.1450A>G (p.Arg484Gly) c.864A>G c.379A>G (p.Arg127Gly) c.*36A>G (n.*36A>G) c.311-28554A>G (n.311-28554A>G) c.355A>G (p.Arg119Gly) | |
| 1 | g.210804098T>G | CA423102138 | KCNH1 | c.1531A>C (p.Arg511=) c.1450A>C (p.Arg484=) c.864A>C c.379A>C (p.Arg127=) c.*36A>C (n.*36A>C) c.311-28554A>C (n.311-28554A>C) c.355A>C (p.Arg119=) | |
| 1 | g.210804099G>A | CA423102139 | KCNH1 | c.1530C>T (p.Asn510=) c.1449C>T (p.Asn483=) c.863C>T c.378C>T (p.Asn126=) c.*35C>T (n.*35C>T) c.311-28555C>T (n.311-28555C>T) c.354C>T (p.Asn118=) | |
| 1 | g.210804099G>C | CA344874462 | KCNH1 | c.1530C>G (p.Asn510Lys) c.1449C>G (p.Asn483Lys) c.863C>G c.378C>G (p.Asn126Lys) c.*35C>G (n.*35C>G) c.311-28555C>G (n.311-28555C>G) c.354C>G (p.Asn118Lys) | |
| 1 | g.210804099G>T | CA344874461 | KCNH1 | c.1530C>A (p.Asn510Lys) c.1449C>A (p.Asn483Lys) c.863C>A c.378C>A (p.Asn126Lys) c.*35C>A (n.*35C>A) c.311-28555C>A (n.311-28555C>A) c.354C>A (p.Asn118Lys) | |
| 1 | g.210804100T>A | CA344874463 | KCNH1 | c.1529A>T (p.Asn510Ile) c.1448A>T (p.Asn483Ile) c.862A>T c.377A>T (p.Asn126Ile) c.*34A>T (n.*34A>T) c.311-28556A>T (n.311-28556A>T) c.353A>T (p.Asn118Ile) | |
| 1 | g.210804100T>C | CA344874464 | KCNH1 | c.1529A>G (p.Asn510Ser) c.1448A>G (p.Asn483Ser) c.862A>G c.377A>G (p.Asn126Ser) c.*34A>G (n.*34A>G) c.311-28556A>G (n.311-28556A>G) c.353A>G (p.Asn118Ser) | |
| 1 | g.210804100T>G | CA344874465 | KCNH1 | c.1529A>C (p.Asn510Thr) c.1448A>C (p.Asn483Thr) c.862A>C c.377A>C (p.Asn126Thr) c.*34A>C (n.*34A>C) c.311-28556A>C (n.311-28556A>C) c.353A>C (p.Asn118Thr) | |
| 1 | g.210804101T>A | CA344874466 | KCNH1 | c.1528A>T (p.Asn510Tyr) c.1447A>T (p.Asn483Tyr) c.861A>T c.376A>T (p.Asn126Tyr) c.*33A>T (n.*33A>T) c.311-28557A>T (n.311-28557A>T) c.352A>T (p.Asn118Tyr) | |
| 1 | g.210804101T>C | CA344874467 | KCNH1 | c.1528A>G (p.Asn510Asp) c.1447A>G (p.Asn483Asp) c.861A>G c.376A>G (p.Asn126Asp) c.*33A>G (n.*33A>G) c.311-28557A>G (n.311-28557A>G) c.352A>G (p.Asn118Asp) | |
| 1 | g.210804101T>G | CA344874468 | KCNH1 | c.1528A>C (p.Asn510His) c.1447A>C (p.Asn483His) c.861A>C c.376A>C (p.Asn126His) c.*33A>C (n.*33A>C) c.311-28557A>C (n.311-28557A>C) c.352A>C (p.Asn118His) | |
| 1 | g.210804102G>A | CA423102140 | KCNH1 | c.1527C>T (p.Thr509=) c.1446C>T (p.Thr482=) c.860C>T c.375C>T (p.Thr125=) c.*32C>T (n.*32C>T) c.311-28558C>T (n.311-28558C>T) c.351C>T (p.Thr117=) | |
| 1 | g.210804102G>C | CA423102142 | KCNH1 | c.1527C>G (p.Thr509=) c.1446C>G (p.Thr482=) c.860C>G c.375C>G (p.Thr125=) c.*32C>G (n.*32C>G) c.311-28558C>G (n.311-28558C>G) c.351C>G (p.Thr117=) | |
| 1 | g.210804102G>T | CA423102141 | KCNH1 | c.1527C>A (p.Thr509=) c.1446C>A (p.Thr482=) c.860C>A c.375C>A (p.Thr125=) c.*32C>A (n.*32C>A) c.311-28558C>A (n.311-28558C>A) c.351C>A (p.Thr117=) | |
| 1 | g.210804103G>A | CA344874469 | KCNH1 | c.1526C>T (p.Thr509Ile) c.1445C>T (p.Thr482Ile) c.859C>T c.374C>T (p.Thr125Ile) c.*31C>T (n.*31C>T) c.311-28559C>T (n.311-28559C>T) c.350C>T (p.Thr117Ile) | gnomAD v4 |
| 1 | g.210804103G>C | CA344874471 | KCNH1 | c.1526C>G (p.Thr509Ser) c.1445C>G (p.Thr482Ser) c.859C>G c.374C>G (p.Thr125Ser) c.*31C>G (n.*31C>G) c.311-28559C>G (n.311-28559C>G) c.350C>G (p.Thr117Ser) | |
| 1 | g.210804103G>T | CA344874470 | KCNH1 | c.1526C>A (p.Thr509Asn) c.1445C>A (p.Thr482Asn) c.859C>A c.374C>A (p.Thr125Asn) c.*31C>A (n.*31C>A) c.311-28559C>A (n.311-28559C>A) c.350C>A (p.Thr117Asn) | |
| 1 | g.210804104T>A | CA344874472 | KCNH1 | c.1525A>T (p.Thr509Ser) c.1444A>T (p.Thr482Ser) c.858A>T c.373A>T (p.Thr125Ser) c.*30A>T (n.*30A>T) c.311-28560A>T (n.311-28560A>T) c.349A>T (p.Thr117Ser) | |
| 1 | g.210804104T>C | CA344874473 | KCNH1 | c.1525A>G (p.Thr509Ala) c.1444A>G (p.Thr482Ala) c.858A>G c.373A>G (p.Thr125Ala) c.*30A>G (n.*30A>G) c.311-28560A>G (n.311-28560A>G) c.349A>G (p.Thr117Ala) | |
| 1 | g.210804104T>G | CA344874474 | KCNH1 | c.1525A>C (p.Thr509Pro) c.1444A>C (p.Thr482Pro) c.858A>C c.373A>C (p.Thr125Pro) c.*30A>C (n.*30A>C) c.311-28560A>C (n.311-28560A>C) c.349A>C (p.Thr117Pro) | |
| 1 | g.210804105G>A | CA1379861 | KCNH1 | c.1524C>T (p.Asn508=) c.1443C>T (p.Asn481=) c.857C>T c.372C>T (p.Asn124=) c.*29C>T (n.*29C>T) c.311-28561C>T (n.311-28561C>T) c.348C>T (p.Asn116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.210804105G>C | CA344874475 | KCNH1 | c.1524C>G (p.Asn508Lys) c.1443C>G (p.Asn481Lys) c.857C>G c.372C>G (p.Asn124Lys) c.*29C>G (n.*29C>G) c.311-28561C>G (n.311-28561C>G) c.348C>G (p.Asn116Lys) | |
| 1 | g.210804105G= | CA1144203230 | KCNH1 | c.1524C= (p.Asn508=) c.1443C= (p.Asn481=) c.857C= c.372C= (p.Asn124=) c.*29C= (n.*29C=) c.311-28561C= (n.311-28561C=) c.348C= (p.Asn116=) | |
| 1 | g.210804105G>T | CA344874476 | KCNH1 | c.1524C>A (p.Asn508Lys) c.1443C>A (p.Asn481Lys) c.857C>A c.372C>A (p.Asn124Lys) c.*29C>A (n.*29C>A) c.311-28561C>A (n.311-28561C>A) c.348C>A (p.Asn116Lys) | |
| 1 | g.210804106T>A | CA344874477 | KCNH1 | c.1523A>T (p.Asn508Ile) c.1442A>T (p.Asn481Ile) c.856A>T c.371A>T (p.Asn124Ile) c.*28A>T (n.*28A>T) c.311-28562A>T (n.311-28562A>T) c.347A>T (p.Asn116Ile) | |
| 1 | g.210804106T>C | CA344874478 | KCNH1 | c.1523A>G (p.Asn508Ser) c.1442A>G (p.Asn481Ser) c.856A>G c.371A>G (p.Asn124Ser) c.*28A>G (n.*28A>G) c.311-28562A>G (n.311-28562A>G) c.347A>G (p.Asn116Ser) | gnomAD v4 |
| 1 | g.210804106T>G | CA344874479 | KCNH1 | c.1523A>C (p.Asn508Thr) c.1442A>C (p.Asn481Thr) c.856A>C c.371A>C (p.Asn124Thr) c.*28A>C (n.*28A>C) c.311-28562A>C (n.311-28562A>C) c.347A>C (p.Asn116Thr) | |
| 1 | g.210804107T>A | CA344874480 | KCNH1 | c.1522A>T (p.Asn508Tyr) c.1441A>T (p.Asn481Tyr) c.855A>T c.370A>T (p.Asn124Tyr) c.*27A>T (n.*27A>T) c.311-28563A>T (n.311-28563A>T) c.346A>T (p.Asn116Tyr) | |
| 1 | g.210804107T>C | CA344874481 | KCNH1 | c.1522A>G (p.Asn508Asp) c.1441A>G (p.Asn481Asp) c.855A>G c.370A>G (p.Asn124Asp) c.*27A>G (n.*27A>G) c.311-28563A>G (n.311-28563A>G) c.346A>G (p.Asn116Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.210804107T>G | CA344874482 | KCNH1 | c.1522A>C (p.Asn508His) c.1441A>C (p.Asn481His) c.855A>C c.370A>C (p.Asn124His) c.*27A>C (n.*27A>C) c.311-28563A>C (n.311-28563A>C) c.346A>C (p.Asn116His) | |
| 1 | g.210804107T= | CA2484788395 | KCNH1 | c.1522A= (p.Asn508=) c.1441A= (p.Asn481=) c.855A= c.370A= (p.Asn124=) c.*27A= (n.*27A=) c.311-28563A= (n.311-28563A=) c.346A= (p.Asn116=) | |
| 1 | g.210804108G>A | CA423102144 | KCNH1 | c.1521C>T (p.Ala507=) c.1440C>T (p.Ala480=) c.854C>T c.369C>T (p.Ala123=) c.*26C>T (n.*26C>T) c.311-28564C>T (n.311-28564C>T) c.345C>T (p.Ala115=) | |
| 1 | g.210804108G>C | CA423102143 | KCNH1 | c.1521C>G (p.Ala507=) c.1440C>G (p.Ala480=) c.854C>G c.369C>G (p.Ala123=) c.*26C>G (n.*26C>G) c.311-28564C>G (n.311-28564C>G) c.345C>G (p.Ala115=) | |
| 1 | g.210804108G>T | CA423102145 | KCNH1 | c.1521C>A (p.Ala507=) c.1440C>A (p.Ala480=) c.854C>A c.369C>A (p.Ala123=) c.*26C>A (n.*26C>A) c.311-28564C>A (n.311-28564C>A) c.345C>A (p.Ala115=) | |
| 1 | g.210804109G>A | CA344874485 | KCNH1 | c.1520C>T (p.Ala507Val) c.1439C>T (p.Ala480Val) c.853C>T c.368C>T (p.Ala123Val) c.*25C>T (n.*25C>T) c.311-28565C>T (n.311-28565C>T) c.344C>T (p.Ala115Val) | gnomAD v4 |
| 1 | g.210804109G>C | CA344874484 | KCNH1 | c.1520C>G (p.Ala507Gly) c.1439C>G (p.Ala480Gly) c.853C>G c.368C>G (p.Ala123Gly) c.*25C>G (n.*25C>G) c.311-28565C>G (n.311-28565C>G) c.344C>G (p.Ala115Gly) | |
| 1 | g.210804109G>T | CA344874483 | KCNH1 | c.1520C>A (p.Ala507Asp) c.1439C>A (p.Ala480Asp) c.853C>A c.368C>A (p.Ala123Asp) c.*25C>A (n.*25C>A) c.311-28565C>A (n.311-28565C>A) c.344C>A (p.Ala115Asp) | |
| 1 | g.210804110C>A | CA344874486 | KCNH1 | c.1519G>T (p.Ala507Ser) c.1438G>T (p.Ala480Ser) c.852G>T c.367G>T (p.Ala123Ser) c.*24G>T (n.*24G>T) c.311-28566G>T (n.311-28566G>T) c.343G>T (p.Ala115Ser) | |
| 1 | g.210804110C>G | CA344874488 | KCNH1 | c.1519G>C (p.Ala507Pro) c.1438G>C (p.Ala480Pro) c.852G>C c.367G>C (p.Ala123Pro) c.*24G>C (n.*24G>C) c.311-28566G>C (n.311-28566G>C) c.343G>C (p.Ala115Pro) | |
| 1 | g.210804110C>T | CA344874487 | KCNH1 | c.1519G>A (p.Ala507Thr) c.1438G>A (p.Ala480Thr) c.852G>A c.367G>A (p.Ala123Thr) c.*24G>A (n.*24G>A) c.311-28566G>A (n.311-28566G>A) c.343G>A (p.Ala115Thr) | |
| 1 | g.210804111A= | CA2484788396 | KCNH1 | c.1518T= (p.Tyr506=) c.1437T= (p.Tyr479=) c.851T= c.366T= (p.Tyr122=) c.*23T= (n.*23T=) c.311-28567T= (n.311-28567T=) c.342T= (p.Tyr114=) | |
| 1 | g.210804111A>C | CA344874489 | KCNH1 | c.1518T>G (p.Tyr506Ter) c.1437T>G (p.Tyr479Ter) c.851T>G c.366T>G (p.Tyr122Ter) c.*23T>G (n.*23T>G) c.311-28567T>G (n.311-28567T>G) c.342T>G (p.Tyr114Ter) | |
| 1 | g.210804111A>G | CA423102146 | KCNH1 | c.1518T>C (p.Tyr506=) c.1437T>C (p.Tyr479=) c.851T>C c.366T>C (p.Tyr122=) c.*23T>C (n.*23T>C) c.311-28567T>C (n.311-28567T>C) c.342T>C (p.Tyr114=) | dbSNP |
| 1 | g.210804111A>T | CA344874490 | KCNH1 | c.1518T>A (p.Tyr506Ter) c.1437T>A (p.Tyr479Ter) c.851T>A c.366T>A (p.Tyr122Ter) c.*23T>A (n.*23T>A) c.311-28567T>A (n.311-28567T>A) c.342T>A (p.Tyr114Ter) | |
| 1 | g.210804112T>A | CA344874491 | KCNH1 | c.1517A>T (p.Tyr506Phe) c.1436A>T (p.Tyr479Phe) c.850A>T c.365A>T (p.Tyr122Phe) c.*22A>T (n.*22A>T) c.311-28568A>T (n.311-28568A>T) c.341A>T (p.Tyr114Phe) | |
| 1 | g.210804112T>C | CA344874492 | KCNH1 | c.1517A>G (p.Tyr506Cys) c.1436A>G (p.Tyr479Cys) c.850A>G c.365A>G (p.Tyr122Cys) c.*22A>G (n.*22A>G) c.311-28568A>G (n.311-28568A>G) c.341A>G (p.Tyr114Cys) | |
| 1 | g.210804112T>G | CA1379862 | KCNH1 | c.1517A>C (p.Tyr506Ser) c.1436A>C (p.Tyr479Ser) c.850A>C c.365A>C (p.Tyr122Ser) c.*22A>C (n.*22A>C) c.311-28568A>C (n.311-28568A>C) c.341A>C (p.Tyr114Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.210804112T= | CA2484788397 | KCNH1 | c.1517A= (p.Tyr506=) c.1436A= (p.Tyr479=) c.850A= c.365A= (p.Tyr122=) c.*22A= (n.*22A=) c.311-28568A= (n.311-28568A=) c.341A= (p.Tyr114=) | |
| 1 | g.210804113A= | CA2484788398 | KCNH1 | c.1516T= (p.Tyr506=) c.1435T= (p.Tyr479=) c.849T= c.364T= (p.Tyr122=) c.*21T= (n.*21T=) c.311-28569T= (n.311-28569T=) c.340T= (p.Tyr114=) | |
| 1 | g.210804113A>C | CA1379864 | KCNH1 | c.1516T>G (p.Tyr506Asp) c.1435T>G (p.Tyr479Asp) c.849T>G c.364T>G (p.Tyr122Asp) c.*21T>G (n.*21T>G) c.311-28569T>G (n.311-28569T>G) c.340T>G (p.Tyr114Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.210804113A>G | CA1379863 | KCNH1 | c.1516T>C (p.Tyr506His) c.1435T>C (p.Tyr479His) c.849T>C c.364T>C (p.Tyr122His) c.*21T>C (n.*21T>C) c.311-28569T>C (n.311-28569T>C) c.340T>C (p.Tyr114His) | dbSNP ExAC gnomAD v2 |
| 1 | g.210804113A>T | CA344874493 | KCNH1 | c.1516T>A (p.Tyr506Asn) c.1435T>A (p.Tyr479Asn) c.849T>A c.364T>A (p.Tyr122Asn) c.*21T>A (n.*21T>A) c.311-28569T>A (n.311-28569T>A) c.340T>A (p.Tyr114Asn) | |
| 1 | g.210804114C>A | CA344874494 | KCNH1 | c.1515G>T (p.Met505Ile) c.1434G>T (p.Met478Ile) c.848G>T c.363G>T (p.Met121Ile) c.*20G>T (n.*20G>T) c.311-28570G>T (n.311-28570G>T) c.339G>T (p.Met113Ile) | |
| 1 | g.210804114C>G | CA344874495 | KCNH1 | c.1515G>C (p.Met505Ile) c.1434G>C (p.Met478Ile) c.848G>C c.363G>C (p.Met121Ile) c.*20G>C (n.*20G>C) c.311-28570G>C (n.311-28570G>C) c.339G>C (p.Met113Ile) | |
| 1 | g.210804114C>T | CA344874496 | KCNH1 | c.1515G>A (p.Met505Ile) c.1434G>A (p.Met478Ile) c.848G>A c.363G>A (p.Met121Ile) c.*20G>A (n.*20G>A) c.311-28570G>A (n.311-28570G>A) c.339G>A (p.Met113Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.210804115A>C | CA344874499 | KCNH1 | c.1514T>G (p.Met505Arg) c.1433T>G (p.Met478Arg) c.847T>G c.362T>G (p.Met121Arg) c.*19T>G (n.*19T>G) c.311-28571T>G (n.311-28571T>G) c.338T>G (p.Met113Arg) | |
| 1 | g.210804115A>G | CA344874497 | KCNH1 | c.1514T>C (p.Met505Thr) c.1433T>C (p.Met478Thr) c.847T>C c.362T>C (p.Met121Thr) c.*19T>C (n.*19T>C) c.311-28571T>C (n.311-28571T>C) c.338T>C (p.Met113Thr) | |
| 1 | g.210804115A>T | CA344874498 | KCNH1 | c.1514T>A (p.Met505Lys) c.1433T>A (p.Met478Lys) c.847T>A c.362T>A (p.Met121Lys) c.*19T>A (n.*19T>A) c.311-28571T>A (n.311-28571T>A) c.338T>A (p.Met113Lys) | |
| 1 | g.210804116T>A | CA344874500 | KCNH1 | c.1513A>T (p.Met505Leu) c.1432A>T (p.Met478Leu) c.846A>T c.361A>T (p.Met121Leu) c.*18A>T (n.*18A>T) c.311-28572A>T (n.311-28572A>T) c.337A>T (p.Met113Leu) | |
| 1 | g.210804116T>C | CA344874501 | KCNH1 | c.1513A>G (p.Met505Val) c.1432A>G (p.Met478Val) c.846A>G c.361A>G (p.Met121Val) c.*18A>G (n.*18A>G) c.311-28572A>G (n.311-28572A>G) c.337A>G (p.Met113Val) | |
| 1 | g.210804116T>G | CA344874502 | KCNH1 | c.1513A>C (p.Met505Leu) c.1432A>C (p.Met478Leu) c.846A>C c.361A>C (p.Met121Leu) c.*18A>C (n.*18A>C) c.311-28572A>C (n.311-28572A>C) c.337A>C (p.Met113Leu) | |
| 1 | g.210804117C>A | CA344874503 | KCNH1 | c.1512G>T (p.Gln504His) c.1431G>T (p.Gln477His) c.845G>T c.360G>T (p.Gln120His) c.*17G>T (n.*17G>T) c.311-28573G>T (n.311-28573G>T) c.336G>T (p.Gln112His) | |
| 1 | g.210804117C>G | CA344874504 | KCNH1 | c.1512G>C (p.Gln504His) c.1431G>C (p.Gln477His) c.845G>C c.360G>C (p.Gln120His) c.*17G>C (n.*17G>C) c.311-28573G>C (n.311-28573G>C) c.336G>C (p.Gln112His) | |
| 1 | g.210804117C>T | CA423102147 | KCNH1 | c.1512G>A (p.Gln504=) c.1431G>A (p.Gln477=) c.845G>A c.360G>A (p.Gln120=) c.*17G>A (n.*17G>A) c.311-28573G>A (n.311-28573G>A) c.336G>A (p.Gln112=) | COSMIC |
| 1 | g.210804118T>A | CA344874505 | KCNH1 | c.1511A>T (p.Gln504Leu) c.1430A>T (p.Gln477Leu) c.844A>T c.359A>T (p.Gln120Leu) c.*16A>T (n.*16A>T) c.311-28574A>T (n.311-28574A>T) c.335A>T (p.Gln112Leu) | |
| 1 | g.210804118T>C | CA344874506 | KCNH1 | c.1511A>G (p.Gln504Arg) c.1430A>G (p.Gln477Arg) c.844A>G c.359A>G (p.Gln120Arg) c.*16A>G (n.*16A>G) c.311-28574A>G (n.311-28574A>G) c.335A>G (p.Gln112Arg) | |
| 1 | g.210804118T>G | CA344874507 | KCNH1 | c.1511A>C (p.Gln504Pro) c.1430A>C (p.Gln477Pro) c.844A>C c.359A>C (p.Gln120Pro) c.*16A>C (n.*16A>C) c.311-28574A>C (n.311-28574A>C) c.335A>C (p.Gln112Pro) | |
| 1 | g.210804119G>A | CA344874508 | KCNH1 | c.1510C>T (p.Gln504Ter) c.1429C>T (p.Gln477Ter) c.843C>T c.358C>T (p.Gln120Ter) c.*15C>T (n.*15C>T) c.311-28575C>T (n.311-28575C>T) c.334C>T (p.Gln112Ter) | |
| 1 | g.210804119G>C | CA344874509 | KCNH1 | c.1510C>G (p.Gln504Glu) c.1429C>G (p.Gln477Glu) c.843C>G c.358C>G (p.Gln120Glu) c.*15C>G (n.*15C>G) c.311-28575C>G (n.311-28575C>G) c.334C>G (p.Gln112Glu) | |
| 1 | g.210804119G>T | CA344874510 | KCNH1 | c.1510C>A (p.Gln504Lys) c.1429C>A (p.Gln477Lys) c.843C>A c.358C>A (p.Gln120Lys) c.*15C>A (n.*15C>A) c.311-28575C>A (n.311-28575C>A) c.334C>A (p.Gln112Lys) | |
| 1 | g.210804120T>A | CA344874512 | KCNH1 | c.1509A>T (p.Gln503His) c.1428A>T (p.Gln476His) c.842A>T c.357A>T (p.Gln119His) c.*14A>T (n.*14A>T) c.311-28576A>T (n.311-28576A>T) c.333A>T (p.Gln111His) | |
| 1 | g.210804120T>C | CA1379865 | KCNH1 | c.1509A>G (p.Gln503=) c.1428A>G (p.Gln476=) c.842A>G c.357A>G (p.Gln119=) c.*14A>G (n.*14A>G) c.311-28576A>G (n.311-28576A>G) c.333A>G (p.Gln111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.210804120T>G | CA344874511 | KCNH1 | c.1509A>C (p.Gln503His) c.1428A>C (p.Gln476His) c.842A>C c.357A>C (p.Gln119His) c.*14A>C (n.*14A>C) c.311-28576A>C (n.311-28576A>C) c.333A>C (p.Gln111His) | |
| 1 | g.210804120T= | CA2484788399 | KCNH1 | c.1509A= (p.Gln503=) c.1428A= (p.Gln476=) c.842A= c.357A= (p.Gln119=) c.*14A= (n.*14A=) c.311-28576A= (n.311-28576A=) c.333A= (p.Gln111=) | |
| 1 | g.210804121T>A | CA344874514 | KCNH1 | c.1508A>T (p.Gln503Leu) c.1427A>T (p.Gln476Leu) c.841A>T c.356A>T (p.Gln119Leu) c.*13A>T (n.*13A>T) c.311-28577A>T (n.311-28577A>T) c.332A>T (p.Gln111Leu) | |
| 1 | g.210804121T>C | CA215049 | KCNH1 | c.1508A>G (p.Gln503Arg) c.1427A>G (p.Gln476Arg) c.841A>G c.356A>G (p.Gln119Arg) c.*13A>G (n.*13A>G) c.311-28577A>G (n.311-28577A>G) c.332A>G (p.Gln111Arg) | ClinVar dbSNP |
| 1 | g.210804121T>G | CA344874513 | KCNH1 | c.1508A>C (p.Gln503Pro) c.1427A>C (p.Gln476Pro) c.841A>C c.356A>C (p.Gln119Pro) c.*13A>C (n.*13A>C) c.311-28577A>C (n.311-28577A>C) c.332A>C (p.Gln111Pro) | |
| 1 | g.210804121T= | CA1148224957 | KCNH1 | c.1508A= (p.Gln503=) c.1427A= (p.Gln476=) c.841A= c.356A= (p.Gln119=) c.*13A= (n.*13A=) c.311-28577A= (n.311-28577A=) c.332A= (p.Gln111=) | |
| 1 | g.210804122G>A | CA344874515 | KCNH1 | c.1507C>T (p.Gln503Ter) c.1426C>T (p.Gln476Ter) c.840C>T c.355C>T (p.Gln119Ter) c.*12C>T (n.*12C>T) c.311-28578C>T (n.311-28578C>T) c.331C>T (p.Gln111Ter) | |
| 1 | g.210804122G>C | CA344874516 | KCNH1 | c.1507C>G (p.Gln503Glu) c.1426C>G (p.Gln476Glu) c.840C>G c.355C>G (p.Gln119Glu) c.*12C>G (n.*12C>G) c.311-28578C>G (n.311-28578C>G) c.331C>G (p.Gln111Glu) | |
| 1 | g.210804122G>T | CA344874517 | KCNH1 | c.1507C>A (p.Gln503Lys) c.1426C>A (p.Gln476Lys) c.840C>A c.355C>A (p.Gln119Lys) c.*12C>A (n.*12C>A) c.311-28578C>A (n.311-28578C>A) c.331C>A (p.Gln111Lys) | |
| 1 | g.210804123G>A | CA423102148 | KCNH1 | c.1506C>T (p.Phe502=) c.1425C>T (p.Phe475=) c.839C>T c.354C>T (p.Phe118=) c.*11C>T (n.*11C>T) c.311-28579C>T (n.311-28579C>T) c.330C>T (p.Phe110=) | COSMIC |
| 1 | g.210804123G>C | CA344874518 | KCNH1 | c.1506C>G (p.Phe502Leu) c.1425C>G (p.Phe475Leu) c.839C>G c.354C>G (p.Phe118Leu) c.*11C>G (n.*11C>G) c.311-28579C>G (n.311-28579C>G) c.330C>G (p.Phe110Leu) | |
| 1 | g.210804123G>T | CA344874519 | KCNH1 | c.1506C>A (p.Phe502Leu) c.1425C>A (p.Phe475Leu) c.839C>A c.354C>A (p.Phe118Leu) c.*11C>A (n.*11C>A) c.311-28579C>A (n.311-28579C>A) c.330C>A (p.Phe110Leu) | |
| 1 | g.210804124A= | CA2484788400 | KCNH1 | c.1505T= (p.Phe502=) c.1424T= (p.Phe475=) c.838T= c.353T= (p.Phe118=) c.*10T= (n.*10T=) c.311-28580T= (n.311-28580T=) c.329T= (p.Phe110=) | |
| 1 | g.210804124A>C | CA344874520 | KCNH1 | c.1505T>G (p.Phe502Cys) c.1424T>G (p.Phe475Cys) c.838T>G c.353T>G (p.Phe118Cys) c.*10T>G (n.*10T>G) c.311-28580T>G (n.311-28580T>G) c.329T>G (p.Phe110Cys) | |
| 1 | g.210804124A>G | CA344874522 | KCNH1 | c.1505T>C (p.Phe502Ser) c.1424T>C (p.Phe475Ser) c.838T>C c.353T>C (p.Phe118Ser) c.*10T>C (n.*10T>C) c.311-28580T>C (n.311-28580T>C) c.329T>C (p.Phe110Ser) | ClinVar dbSNP |
| 1 | g.210804124A>T | CA344874521 | KCNH1 | c.1505T>A (p.Phe502Tyr) c.1424T>A (p.Phe475Tyr) c.838T>A c.353T>A (p.Phe118Tyr) c.*10T>A (n.*10T>A) c.311-28580T>A (n.311-28580T>A) c.329T>A (p.Phe110Tyr) | |
| 1 | g.210804125A>C | CA344874523 | KCNH1 | c.1504T>G (p.Phe502Val) c.1423T>G (p.Phe475Val) c.837T>G c.352T>G (p.Phe118Val) c.*9T>G (n.*9T>G) c.311-28581T>G (n.311-28581T>G) c.328T>G (p.Phe110Val) | |
| 1 | g.210804125A>G | CA344874524 | KCNH1 | c.1504T>C (p.Phe502Leu) c.1423T>C (p.Phe475Leu) c.837T>C c.352T>C (p.Phe118Leu) c.*9T>C (n.*9T>C) c.311-28581T>C (n.311-28581T>C) c.328T>C (p.Phe110Leu) | |
| 1 | g.210804125A>T | CA344874525 | KCNH1 | c.1504T>A (p.Phe502Ile) c.1423T>A (p.Phe475Ile) c.837T>A c.352T>A (p.Phe118Ile) c.*9T>A (n.*9T>A) c.311-28581T>A (n.311-28581T>A) c.328T>A (p.Phe110Ile) | |
| 1 | g.210804126A>C | CA344874526 | KCNH1 | c.1503T>G (p.Ile501Met) c.1422T>G (p.Ile474Met) c.836T>G c.351T>G (p.Ile117Met) c.*8T>G (n.*8T>G) c.311-28582T>G (n.311-28582T>G) c.327T>G (p.Ile109Met) | |
| 1 | g.210804126A>G | CA423102149 | KCNH1 | c.1503T>C (p.Ile501=) c.1422T>C (p.Ile474=) c.836T>C c.351T>C (p.Ile117=) c.*8T>C (n.*8T>C) c.311-28582T>C (n.311-28582T>C) c.327T>C (p.Ile109=) | ClinVar gnomAD v4 |
| 1 | g.210804126A>T | CA423102150 | KCNH1 | c.1503T>A (p.Ile501=) c.1422T>A (p.Ile474=) c.836T>A c.351T>A (p.Ile117=) c.*8T>A (n.*8T>A) c.311-28582T>A (n.311-28582T>A) c.327T>A (p.Ile109=) | |
| 1 | g.210804127A>C | CA344874527 | KCNH1 | c.1502T>G (p.Ile501Ser) c.1421T>G (p.Ile474Ser) c.835T>G c.350T>G (p.Ile117Ser) c.*7T>G (n.*7T>G) c.311-28583T>G (n.311-28583T>G) c.326T>G (p.Ile109Ser) | |
| 1 | g.210804127A>G | CA344874529 | KCNH1 | c.1502T>C (p.Ile501Thr) c.1421T>C (p.Ile474Thr) c.835T>C c.350T>C (p.Ile117Thr) c.*7T>C (n.*7T>C) c.311-28583T>C (n.311-28583T>C) c.326T>C (p.Ile109Thr) | |
| 1 | g.210804127A>T | CA344874528 | KCNH1 | c.1502T>A (p.Ile501Asn) c.1421T>A (p.Ile474Asn) c.835T>A c.350T>A (p.Ile117Asn) c.*7T>A (n.*7T>A) c.311-28583T>A (n.311-28583T>A) c.326T>A (p.Ile109Asn) | gnomAD v4 |
| 1 | g.210804128T>A | CA344874530 | KCNH1 | c.1501A>T (p.Ile501Phe) c.1420A>T (p.Ile474Phe) c.834A>T c.349A>T (p.Ile117Phe) c.*6A>T (n.*6A>T) c.311-28584A>T (n.311-28584A>T) c.325A>T (p.Ile109Phe) | |
| 1 | g.210804128T>C | CA344874531 | KCNH1 | c.1501A>G (p.Ile501Val) c.1420A>G (p.Ile474Val) c.834A>G c.349A>G (p.Ile117Val) c.*6A>G (n.*6A>G) c.311-28584A>G (n.311-28584A>G) c.325A>G (p.Ile109Val) | gnomAD v4 |
| 1 | g.210804128T>G | CA344874532 | KCNH1 | c.1501A>C (p.Ile501Leu) c.1420A>C (p.Ile474Leu) c.834A>C c.349A>C (p.Ile117Leu) c.*6A>C (n.*6A>C) c.311-28584A>C (n.311-28584A>C) c.325A>C (p.Ile109Leu) | |
| 1 | g.210804129A= | CA1140964731 | KCNH1 | c.1500T= (p.Thr500=) c.1419T= (p.Thr473=) c.833T= c.348T= (p.Thr116=) c.*5T= (n.*5T=) c.311-28585T= (n.311-28585T=) c.324T= (p.Thr108=) | |
| 1 | g.210804129A>C | CA1379866 | KCNH1 | c.1500T>G (p.Thr500=) c.1419T>G (p.Thr473=) c.833T>G c.348T>G (p.Thr116=) c.*5T>G (n.*5T>G) c.311-28585T>G (n.311-28585T>G) c.324T>G (p.Thr108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.210804129A>G | CA423102152 | KCNH1 | c.1500T>C (p.Thr500=) c.1419T>C (p.Thr473=) c.833T>C c.348T>C (p.Thr116=) c.*5T>C (n.*5T>C) c.311-28585T>C (n.311-28585T>C) c.324T>C (p.Thr108=) | |
| 1 | g.210804129A>T | CA423102151 | KCNH1 | c.1500T>A (p.Thr500=) c.1419T>A (p.Thr473=) c.833T>A c.348T>A (p.Thr116=) c.*5T>A (n.*5T>A) c.311-28585T>A (n.311-28585T>A) c.324T>A (p.Thr108=) | dbSNP |
| 1 | g.210804130G>A | CA344874533 | KCNH1 | c.1499C>T (p.Thr500Ile) c.1418C>T (p.Thr473Ile) c.832C>T c.347C>T (p.Thr116Ile) c.*4C>T (n.*4C>T) c.311-28586C>T (n.311-28586C>T) c.323C>T (p.Thr108Ile) | |
| 1 | g.210804130G>C | CA344874534 | KCNH1 | c.1499C>G (p.Thr500Ser) c.1418C>G (p.Thr473Ser) c.832C>G c.347C>G (p.Thr116Ser) c.*4C>G (n.*4C>G) c.311-28586C>G (n.311-28586C>G) c.323C>G (p.Thr108Ser) | gnomAD v4 |
| 1 | g.210804130G>T | CA344874535 | KCNH1 | c.1499C>A (p.Thr500Asn) c.1418C>A (p.Thr473Asn) c.832C>A c.347C>A (p.Thr116Asn) c.*4C>A (n.*4C>A) c.311-28586C>A (n.311-28586C>A) c.323C>A (p.Thr108Asn) | |
| 1 | g.210804131T>A | CA344874536 | KCNH1 | c.1498A>T (p.Thr500Ser) c.1417A>T (p.Thr473Ser) c.831A>T c.346A>T (p.Thr116Ser) c.*3A>T (n.*3A>T) c.311-28587A>T (n.311-28587A>T) c.322A>T (p.Thr108Ser) | |
| 1 | g.210804131T>C | CA344874537 | KCNH1 | c.1498A>G (p.Thr500Ala) c.1417A>G (p.Thr473Ala) c.831A>G c.346A>G (p.Thr116Ala) c.*3A>G (n.*3A>G) c.311-28587A>G (n.311-28587A>G) c.322A>G (p.Thr108Ala) | |
| 1 | g.210804131T>G | CA344874538 | KCNH1 | c.1498A>C (p.Thr500Pro) c.1417A>C (p.Thr473Pro) c.831A>C c.346A>C (p.Thr116Pro) c.*3A>C (n.*3A>C) c.311-28587A>C (n.311-28587A>C) c.322A>C (p.Thr108Pro) | |
| 1 | g.210804132C>A | CA423102153 | KCNH1 | c.1497G>T (p.Thr499=) c.1416G>T (p.Thr472=) c.830G>T c.345G>T (p.Thr115=) c.*2G>T (n.*2G>T) c.311-28588G>T (n.311-28588G>T) c.321G>T (p.Thr107=) | |
| 1 | g.210804132C= | CA2484788401 | KCNH1 | c.1497G= (p.Thr499=) c.1416G= (p.Thr472=) c.830G= c.345G= (p.Thr115=) c.*2G= (n.*2G=) c.311-28588G= (n.311-28588G=) c.321G= (p.Thr107=) | |
| 1 | g.210804132C>G | CA423102154 | KCNH1 | c.1497G>C (p.Thr499=) c.1416G>C (p.Thr472=) c.830G>C c.345G>C (p.Thr115=) c.*2G>C (n.*2G>C) c.311-28588G>C (n.311-28588G>C) c.321G>C (p.Thr107=) | |
| 1 | g.210804132C>T | CA1379867 | KCNH1 | c.1497G>A (p.Thr499=) c.1416G>A (p.Thr472=) c.830G>A c.345G>A (p.Thr115=) c.*2G>A (n.*2G>A) c.311-28588G>A (n.311-28588G>A) c.321G>A (p.Thr107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.210804133G>A | CA37124781 | KCNH1 | c.1496C>T (p.Thr499Met) c.1415C>T (p.Thr472Met) c.829C>T c.344C>T (p.Thr115Met) c.*1C>T (n.*1C>T) c.311-28589C>T (n.311-28589C>T) c.320C>T (p.Thr107Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.210804133G>C | CA344874540 | KCNH1 | c.1496C>G (p.Thr499Arg) c.1415C>G (p.Thr472Arg) c.829C>G c.344C>G (p.Thr115Arg) c.*1C>G (n.*1C>G) c.311-28589C>G (n.311-28589C>G) c.320C>G (p.Thr107Arg) | |
| 1 | g.210804133G= | CA2484788402 | KCNH1 | c.1496C= (p.Thr499=) c.1415C= (p.Thr472=) c.829C= c.344C= (p.Thr115=) c.*1C= (n.*1C=) c.311-28589C= (n.311-28589C=) c.320C= (p.Thr107=) | |
| 1 | g.210804133G>T | CA344874539 | KCNH1 | c.1496C>A (p.Thr499Lys) c.1415C>A (p.Thr472Lys) c.829C>A c.344C>A (p.Thr115Lys) c.*1C>A (n.*1C>A) c.311-28589C>A (n.311-28589C>A) c.320C>A (p.Thr107Lys) | |
| 1 | g.210804134T>A | CA344874541 | KCNH1 | c.1495A>T (p.Thr499Ser) c.1414A>T (p.Thr472Ser) c.828A>T c.343A>T (p.Thr115Ser) c.984A>T (p.Ter328Cys) c.1065A>T (p.Ter355Cys) c.311-28590A>T (n.311-28590A>T) c.319A>T (p.Thr107Ser) | |
| 1 | g.210804134T>C | CA344874543 | KCNH1 | c.1495A>G (p.Thr499Ala) c.1414A>G (p.Thr472Ala) c.828A>G c.343A>G (p.Thr115Ala) c.984A>G (p.Ter328Trp) c.1065A>G (p.Ter355Trp) c.311-28590A>G (n.311-28590A>G) c.319A>G (p.Thr107Ala) | |
| 1 | g.210804134T>G | CA344874542 | KCNH1 | c.1495A>C (p.Thr499Pro) c.1414A>C (p.Thr472Pro) c.828A>C c.343A>C (p.Thr115Pro) c.984A>C (p.Ter328Cys) c.1065A>C (p.Ter355Cys) c.311-28590A>C (n.311-28590A>C) c.319A>C (p.Thr107Pro) | COSMIC |
| 1 | g.210804135C>A | CA423102155 | KCNH1 | c.1494G>T (p.Val498=) c.1413G>T (p.Val471=) c.827G>T c.342G>T (p.Val114=) c.983G>T (p.Ter328Leu) c.1064G>T (p.Ter355Leu) c.311-28591G>T (n.311-28591G>T) c.318G>T (p.Val106=) | gnomAD v4 |
| 1 | g.210804135C>G | CA423102156 | KCNH1 | c.1494G>C (p.Val498=) c.1413G>C (p.Val471=) c.827G>C c.342G>C (p.Val114=) c.983G>C (p.Ter328Ser) c.1064G>C (p.Ter355Ser) c.311-28591G>C (n.311-28591G>C) c.318G>C (p.Val106=) | |
| 1 | g.210804135C>T | CA423102157 | KCNH1 | c.1494G>A (p.Val498=) c.1413G>A (p.Val471=) c.827G>A c.342G>A (p.Val114=) c.983G>A (p.Ter328=) c.1064G>A (p.Ter355=) c.311-28591G>A (n.311-28591G>A) c.318G>A (p.Val106=) | |
| 1 | g.210804136A>C | CA344874544 | KCNH1 | c.1493T>G (p.Val498Gly) c.1412T>G (p.Val471Gly) c.826T>G c.341T>G (p.Val114Gly) c.982T>G (p.Ter328Gly) c.1063T>G (p.Ter355Gly) c.311-28592T>G (n.311-28592T>G) c.317T>G (p.Val106Gly) | |
| 1 | g.210804136A>G | CA344874545 | KCNH1 | c.1493T>C (p.Val498Ala) c.1412T>C (p.Val471Ala) c.826T>C c.341T>C (p.Val114Ala) c.982T>C (p.Ter328Arg) c.1063T>C (p.Ter355Arg) c.311-28592T>C (n.311-28592T>C) c.317T>C (p.Val106Ala) | ClinVar dbSNP |
| 1 | g.210804136A>T | CA344874546 | KCNH1 | c.1493T>A (p.Val498Glu) c.1412T>A (p.Val471Glu) c.826T>A c.341T>A (p.Val114Glu) c.982T>A (p.Ter328Arg) c.1063T>A (p.Ter355Arg) c.311-28592T>A (n.311-28592T>A) c.317T>A (p.Val106Glu) | |
| 1 | g.210804137C>A | CA344874547 | KCNH1 | c.1492G>T (p.Val498Leu) c.1411G>T (p.Val471Leu) c.825G>T c.340G>T (p.Val114Leu) c.981G>T (p.Met327Ile) c.1062G>T (p.Met354Ile) c.311-28593G>T (n.311-28593G>T) c.316G>T (p.Val106Leu) | |
| 1 | g.210804137C= | CA2484788403 | KCNH1 | c.1492G= (p.Val498=) c.1411G= (p.Val471=) c.825G= c.340G= (p.Val114=) c.981G= (p.Met327=) c.1062G= (p.Met354=) c.311-28593G= (n.311-28593G=) c.316G= (p.Val106=) | |
| 1 | g.210804137C>G | CA344874548 | KCNH1 | c.1492G>C (p.Val498Leu) c.1411G>C (p.Val471Leu) c.825G>C c.340G>C (p.Val114Leu) c.981G>C (p.Met327Ile) c.1062G>C (p.Met354Ile) c.311-28593G>C (n.311-28593G>C) c.316G>C (p.Val106Leu) | |
| 1 | g.210804137C>T | CA344874549 | KCNH1 | c.1492G>A (p.Val498Met) c.1411G>A (p.Val471Met) c.825G>A c.340G>A (p.Val114Met) c.981G>A (p.Met327Ile) c.1062G>A (p.Met354Ile) c.311-28593G>A (n.311-28593G>A) c.316G>A (p.Val106Met) | dbSNP gnomAD v2 |
| 1 | g.210804138A>C | CA344874551 | KCNH1 | c.1491T>G (p.Asn497Lys) c.1410T>G (p.Asn470Lys) c.824T>G c.339T>G (p.Asn113Lys) c.980T>G (p.Met327Arg) c.1061T>G (p.Met354Arg) c.311-28594T>G (n.311-28594T>G) c.315T>G (p.Asn105Lys) | |
| 1 | g.210804138A>G | CA423102158 | KCNH1 | c.1491T>C (p.Asn497=) c.1410T>C (p.Asn470=) c.824T>C c.339T>C (p.Asn113=) c.980T>C (p.Met327Thr) c.1061T>C (p.Met354Thr) c.311-28594T>C (n.311-28594T>C) c.315T>C (p.Asn105=) | |
| 1 | g.210804138A>T | CA344874550 | KCNH1 | c.1491T>A (p.Asn497Lys) c.1410T>A (p.Asn470Lys) c.824T>A c.339T>A (p.Asn113Lys) c.980T>A (p.Met327Lys) c.1061T>A (p.Met354Lys) c.311-28594T>A (n.311-28594T>A) c.315T>A (p.Asn105Lys) | |
| 1 | g.210804139T>A | CA344874552 | KCNH1 | c.1490A>T (p.Asn497Ile) c.1409A>T (p.Asn470Ile) c.823A>T c.338A>T (p.Asn113Ile) c.979A>T (p.Met327Leu) c.1060A>T (p.Met354Leu) c.311-28595A>T (n.311-28595A>T) c.314A>T (p.Asn105Ile) | |
| 1 | g.210804139T>C | CA344874553 | KCNH1 | c.1490A>G (p.Asn497Ser) c.1409A>G (p.Asn470Ser) c.823A>G c.338A>G (p.Asn113Ser) c.979A>G (p.Met327Val) c.1060A>G (p.Met354Val) c.311-28595A>G (n.311-28595A>G) c.314A>G (p.Asn105Ser) | ClinVar |
| 1 | g.210804139T>G | CA1379868 | KCNH1 | c.1490A>C (p.Asn497Thr) c.1409A>C (p.Asn470Thr) c.823A>C c.338A>C (p.Asn113Thr) c.979A>C (p.Met327Leu) c.1060A>C (p.Met354Leu) c.311-28595A>C (n.311-28595A>C) c.314A>C (p.Asn105Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.210804139T= | CA2484788404 | KCNH1 | c.1490A= (p.Asn497=) c.1409A= (p.Asn470=) c.823A= c.338A= (p.Asn113=) c.979A= (p.Met327=) c.1060A= (p.Met354=) c.311-28595A= (n.311-28595A=) c.314A= (p.Asn105=) | |
| 1 | g.210804140T>A | CA344874554 | KCNH1 | c.1489A>T (p.Asn497Tyr) c.1408A>T (p.Asn470Tyr) c.822A>T c.337A>T (p.Asn113Tyr) c.978A>T (p.Gly326=) c.1059A>T (p.Gly353=) c.311-28596A>T (n.311-28596A>T) c.313A>T (p.Asn105Tyr) | |
| 1 | g.210804140T>C | CA344874555 | KCNH1 | c.1489A>G (p.Asn497Asp) c.1408A>G (p.Asn470Asp) c.822A>G c.337A>G (p.Asn113Asp) c.978A>G (p.Gly326=) c.1059A>G (p.Gly353=) c.311-28596A>G (n.311-28596A>G) c.313A>G (p.Asn105Asp) | |
| 1 | g.210804140T>G | CA344874556 | KCNH1 | c.1489A>C (p.Asn497His) c.1408A>C (p.Asn470His) c.822A>C c.337A>C (p.Asn113His) c.978A>C (p.Gly326=) c.1059A>C (p.Gly353=) c.311-28596A>C (n.311-28596A>C) c.313A>C (p.Asn105His) | gnomAD v4 |
| 1 | g.210804141C>A | CA423102161 | KCNH1 | c.1488G>T (p.Gly496=) c.1407G>T (p.Gly469=) c.821G>T c.336G>T (p.Gly112=) c.977G>T (p.Gly326Val) c.1058G>T (p.Gly353Val) c.311-28597G>T (n.311-28597G>T) c.312G>T (p.Gly104=) | |
| 1 | g.210804141C>G | CA423102160 | KCNH1 | c.1488G>C (p.Gly496=) c.1407G>C (p.Gly469=) c.821G>C c.336G>C (p.Gly112=) c.977G>C (p.Gly326Ala) c.1058G>C (p.Gly353Ala) c.311-28597G>C (n.311-28597G>C) c.312G>C (p.Gly104=) | |
| 1 | g.210804141C>T | CA423102159 | KCNH1 | c.1488G>A (p.Gly496=) c.1407G>A (p.Gly469=) c.821G>A c.336G>A (p.Gly112=) c.977G>A (p.Gly326Glu) c.1058G>A (p.Gly353Glu) c.311-28597G>A (n.311-28597G>A) c.312G>A (p.Gly104=) | |
| 1 | g.210804142C>A | CA344874557 | KCNH1 | c.1487G>T (p.Gly496Val) c.1406G>T (p.Gly469Val) c.820G>T c.335G>T (p.Gly112Val) c.976G>T (p.Gly326Ter) c.1057G>T (p.Gly353Ter) c.311-28598G>T (n.311-28598G>T) c.311G>T (p.Gly104Val) | |
| 1 | g.210804142C>G | CA344874559 | KCNH1 | c.1487G>C (p.Gly496Ala) c.1406G>C (p.Gly469Ala) c.820G>C c.335G>C (p.Gly112Ala) c.976G>C (p.Gly326Arg) c.1057G>C (p.Gly353Arg) c.311-28598G>C (n.311-28598G>C) c.311G>C (p.Gly104Ala) | |
| 1 | g.210804142C>T | CA344874558 | KCNH1 | c.1487G>A (p.Gly496Glu) c.1406G>A (p.Gly469Glu) c.820G>A c.335G>A (p.Gly112Glu) c.976G>A (p.Gly326Arg) c.1057G>A (p.Gly353Arg) c.311-28598G>A (n.311-28598G>A) c.311G>A (p.Gly104Glu) | |
| 1 | g.210804143C>A | CA344874560 | KCNH1 | c.1486G>T (p.Gly496Trp) c.1405G>T (p.Gly469Trp) c.819G>T c.334G>T (p.Gly112Trp) c.975G>T (p.Ser325=) c.1056G>T (p.Ser352=) c.311-28599G>T (n.311-28599G>T) c.310G>T (p.Gly104Trp) | |
| 1 | g.210804143C= | CA1148225808 | KCNH1 | c.1486G= (p.Gly496=) c.1405G= (p.Gly469=) c.819G= c.334G= (p.Gly112=) c.975G= (p.Ser325=) c.1056G= (p.Ser352=) c.311-28599G= (n.311-28599G=) c.310G= (p.Gly104=) | |
| 1 | g.210804143C>G | CA344874561 | KCNH1 | c.1486G>C (p.Gly496Arg) c.1405G>C (p.Gly469Arg) c.819G>C c.334G>C (p.Gly112Arg) c.975G>C (p.Ser325=) c.1056G>C (p.Ser352=) c.311-28599G>C (n.311-28599G>C) c.310G>C (p.Gly104Arg) | |
| 1 | g.210804143C>T | CA215108 | KCNH1 | c.1486G>A (p.Gly496Arg) c.1405G>A (p.Gly469Arg) c.819G>A c.334G>A (p.Gly112Arg) c.975G>A (p.Ser325=) c.1056G>A (p.Ser352=) c.311-28599G>A (n.311-28599G>A) c.310G>A (p.Gly104Arg) | ClinVar dbSNP gnomAD v4 COSMIC |