| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.74457445_74457457delinsTCTGGCCCCAGCC | CA1982893319 | KCNE3 | c.107_119delinsGGCTGGGGCCAGA (p.Gly36=) c.239_251delinsGGCTGGGGCCAGA (p.Gly80=) | |
| 11 | g.74457453_74457464del | CA1982893320 | KCNE3 | c.107_118del (p.Gly36_Pro39del) c.239_250del (p.Gly80_Pro83del) | dbSNP |
| 11 | g.74457454A= | CA1982893328 | KCNE3 | c.110T= (p.Leu37=) c.242T= (p.Leu81=) | |
| 11 | g.74457454A>C | CA381974045 | KCNE3 | c.110T>G (p.Leu37Arg) c.242T>G (p.Leu81Arg) | dbSNP |
| 11 | g.74457454A>G | CA381974047 | KCNE3 | c.110T>C (p.Leu37Pro) c.242T>C (p.Leu81Pro) | |
| 11 | g.74457454A>T | CA381974046 | KCNE3 | c.110T>A (p.Leu37Gln) c.242T>A (p.Leu81Gln) | |
| 11 | g.74457455G>A | CA475888128 | KCNE3 | c.109C>T (p.Leu37=) c.241C>T (p.Leu81=) | |
| 11 | g.74457455G>C | CA381974048 | KCNE3 | c.109C>G (p.Leu37Val) c.241C>G (p.Leu81Val) | |
| 11 | g.74457455G>T | CA381974049 | KCNE3 | c.109C>A (p.Leu37Met) c.241C>A (p.Leu81Met) | |
| 11 | g.74457456C>A | CA475888129 | KCNE3 | c.108G>T (p.Gly36=) c.240G>T (p.Gly80=) | |
| 11 | g.74457456C= | CA1982893329 | KCNE3 | c.108G= (p.Gly36=) c.240G= (p.Gly80=) | |
| 11 | g.74457456C>G | CA475888130 | KCNE3 | c.108G>C (p.Gly36=) c.240G>C (p.Gly80=) | |
| 11 | g.74457456C>T | CA475888131 | KCNE3 | c.108G>A (p.Gly36=) c.240G>A (p.Gly80=) | dbSNP |
| 11 | g.74457457C>A | CA381974050 | KCNE3 | c.107G>T (p.Gly36Val) c.239G>T (p.Gly80Val) | |
| 11 | g.74457457C= | CA1982893330 | KCNE3 | c.107G= (p.Gly36=) c.239G= (p.Gly80=) | |
| 11 | g.74457457C>G | CA381974051 | KCNE3 | c.107G>C (p.Gly36Ala) c.239G>C (p.Gly80Ala) | |
| 11 | g.74457457C>T | CA381974052 | KCNE3 | c.107G>A (p.Gly36Glu) c.239G>A (p.Gly80Glu) | dbSNP gnomAD v4 |
| 11 | g.74457458C>A | CA381974053 | KCNE3 | c.106G>T (p.Gly36Trp) c.238G>T (p.Gly80Trp) | |
| 11 | g.74457458C>G | CA381974054 | KCNE3 | c.106G>C (p.Gly36Arg) c.238G>C (p.Gly80Arg) | |
| 11 | g.74457458C>T | CA381974055 | KCNE3 | c.106G>A (p.Gly36Arg) c.238G>A (p.Gly80Arg) | |
| 11 | g.74457459T>A | CA475888132 | KCNE3 | c.105A>T (p.Pro35=) c.237A>T (p.Pro79=) | |
| 11 | g.74457459T>C | CA475888134 | KCNE3 | c.105A>G (p.Pro35=) c.237A>G (p.Pro79=) | dbSNP |
| 11 | g.74457459T>G | CA475888135 | KCNE3 | c.105A>C (p.Pro35=) c.237A>C (p.Pro79=) | |
| 11 | g.74457459T= | CA1982893331 | KCNE3 | c.105A= (p.Pro35=) c.237A= (p.Pro79=) | |
| 11 | g.74457460G>A | CA6184858 | KCNE3 | c.104C>T (p.Pro35Leu) c.236C>T (p.Pro79Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457460G>C | CA381974056 | KCNE3 | c.104C>G (p.Pro35Arg) c.236C>G (p.Pro79Arg) | |
| 11 | g.74457460G= | CA1982893332 | KCNE3 | c.104C= (p.Pro35=) c.236C= (p.Pro79=) | |
| 11 | g.74457460G>T | CA381974057 | KCNE3 | c.104C>A (p.Pro35Gln) c.236C>A (p.Pro79Gln) | |
| 11 | g.74457461G>A | CA381974060 | KCNE3 | c.103C>T (p.Pro35Ser) c.235C>T (p.Pro79Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.74457461G>C | CA381974059 | KCNE3 | c.103C>G (p.Pro35Ala) c.235C>G (p.Pro79Ala) | |
| 11 | g.74457461G= | CA1982893333 | KCNE3 | c.103C= (p.Pro35=) c.235C= (p.Pro79=) | |
| 11 | g.74457461G>T | CA381974058 | KCNE3 | c.103C>A (p.Pro35Thr) c.235C>A (p.Pro79Thr) | |
| 11 | g.74457462C>A | CA475888137 | KCNE3 | c.102G>T (p.Gly34=) c.234G>T (p.Gly78=) | |
| 11 | g.74457462C>G | CA475888138 | KCNE3 | c.102G>C (p.Gly34=) c.234G>C (p.Gly78=) | |
| 11 | g.74457462C>T | CA475888139 | KCNE3 | c.102G>A (p.Gly34=) c.234G>A (p.Gly78=) | |
| 11 | g.74457463C>A | CA381974061 | KCNE3 | c.101G>T (p.Gly34Val) c.233G>T (p.Gly78Val) | |
| 11 | g.74457463C>G | CA381974063 | KCNE3 | c.101G>C (p.Gly34Ala) c.233G>C (p.Gly78Ala) | |
| 11 | g.74457463C>T | CA381974062 | KCNE3 | c.101G>A (p.Gly34Glu) c.233G>A (p.Gly78Glu) | gnomAD v4 |
| 11 | g.74457464C>A | CA381974064 | KCNE3 | c.100G>T (p.Gly34Trp) c.232G>T (p.Gly78Trp) | |
| 11 | g.74457464C>G | CA381974065 | KCNE3 | c.100G>C (p.Gly34Arg) c.232G>C (p.Gly78Arg) | |
| 11 | g.74457464C>T | CA381974066 | KCNE3 | c.100G>A (p.Gly34Arg) c.232G>A (p.Gly78Arg) | |
| 11 | g.74457465T>A | CA475888142 | KCNE3 | c.99A>T (p.Pro33=) c.231A>T (p.Pro77=) | |
| 11 | g.74457465T>C | CA475888143 | KCNE3 | c.99A>G (p.Pro33=) c.231A>G (p.Pro77=) | |
| 11 | g.74457465T>G | CA475888144 | KCNE3 | c.99A>C (p.Pro33=) c.231A>C (p.Pro77=) | |
| 11 | g.74457466G>A | CA381974067 | KCNE3 | c.98C>T (p.Pro33Leu) c.230C>T (p.Pro77Leu) | |
| 11 | g.74457466G>C | CA381974068 | KCNE3 | c.98C>G (p.Pro33Arg) c.230C>G (p.Pro77Arg) | |
| 11 | g.74457466G>T | CA381974069 | KCNE3 | c.98C>A (p.Pro33Gln) c.230C>A (p.Pro77Gln) | |
| 11 | g.74457467G>A | CA381974070 | KCNE3 | c.97C>T (p.Pro33Ser) c.229C>T (p.Pro77Ser) | |
| 11 | g.74457467G>C | CA381974071 | KCNE3 | c.97C>G (p.Pro33Ala) c.229C>G (p.Pro77Ala) | |
| 11 | g.74457467G>T | CA381974072 | KCNE3 | c.97C>A (p.Pro33Thr) c.229C>A (p.Pro77Thr) |