| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175375C>A | CA400860374 | KCNJ2 | c.336C>A (p.Asp112Glu) | |
| 17 | g.70175375C>G | CA400860375 | KCNJ2 | c.336C>G (p.Asp112Glu) | |
| 17 | g.70175375C>T | CA501700447 | KCNJ2 | c.336C>T (p.Asp112=) | gnomAD v4 |
| 17 | g.70175376C>A | CA400860376 | KCNJ2 | c.337C>A (p.Leu113Met) | |
| 17 | g.70175376C>G | CA400860377 | KCNJ2 | c.337C>G (p.Leu113Val) | |
| 17 | g.70175376C>T | CA501700448 | KCNJ2 | c.337C>T (p.Leu113=) | gnomAD v4 |
| 17 | g.70175377T>A | CA400860378 | KCNJ2 | c.338T>A (p.Leu113Gln) | |
| 17 | g.70175377T>C | CA400860379 | KCNJ2 | c.338T>C (p.Leu113Pro) | |
| 17 | g.70175377T>G | CA400860380 | KCNJ2 | c.338T>G (p.Leu113Arg) | |
| 17 | g.70175378G>A | CA8738718 | KCNJ2 | c.339G>A (p.Leu113=) | dbSNP ExAC |
| 17 | g.70175378G>C | CA501700452 | KCNJ2 | c.339G>C (p.Leu113=) | |
| 17 | g.70175378G= | CA2272996544 | KCNJ2 | c.339G= (p.Leu113=) | |
| 17 | g.70175378G>T | CA501700453 | KCNJ2 | c.339G>T (p.Leu113=) | |
| 17 | g.70175379G>A | CA400860382 | KCNJ2 | c.340G>A (p.Asp114Asn) | |
| 17 | g.70175379G>C | CA400860383 | KCNJ2 | c.340G>C (p.Asp114His) | |
| 17 | g.70175379G>T | CA400860381 | KCNJ2 | c.340G>T (p.Asp114Tyr) | |
| 17 | g.70175380A= | CA2272996545 | KCNJ2 | c.341A= (p.Asp114=) | |
| 17 | g.70175380A>C | CA400860384 | KCNJ2 | c.341A>C (p.Asp114Ala) | |
| 17 | g.70175380A>G | CA400860385 | KCNJ2 | c.341A>G (p.Asp114Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.70175380A>T | CA400860386 | KCNJ2 | c.341A>T (p.Asp114Val) | gnomAD v4 |
| 17 | g.70175381del | CA2525407177 | KCNJ2 | c.342del (p.Asp114GlufsTer30) | |
| 17 | g.70175381T>A | CA400860387 | KCNJ2 | c.342T>A (p.Asp114Glu) | |
| 17 | g.70175381T>C | CA501700456 | KCNJ2 | c.342T>C (p.Asp114=) | |
| 17 | g.70175381T>G | CA400860388 | KCNJ2 | c.342T>G (p.Asp114Glu) | |
| 17 | g.70175382G>A | CA400860389 | KCNJ2 | c.343G>A (p.Ala115Thr) | |
| 17 | g.70175382G>C | CA400860390 | KCNJ2 | c.343G>C (p.Ala115Pro) | |
| 17 | g.70175382G>T | CA400860391 | KCNJ2 | c.343G>T (p.Ala115Ser) | |
| 17 | g.70175383del | CA2539244539 | KCNJ2 | c.344del (p.Ala115AspfsTer29) | |
| 17 | g.70175383C>A | CA400860392 | KCNJ2 | c.344C>A (p.Ala115Glu) | |
| 17 | g.70175383C= | CA2272996546 | KCNJ2 | c.344C= (p.Ala115=) | |
| 17 | g.70175383C>G | CA400860393 | KCNJ2 | c.344C>G (p.Ala115Gly) | |
| 17 | g.70175383C>T | CA10650783 | KCNJ2 | c.344C>T (p.Ala115Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.70175384A>C | CA501700460 | KCNJ2 | c.345A>C (p.Ala115=) | |
| 17 | g.70175384A>G | CA501700461 | KCNJ2 | c.345A>G (p.Ala115=) | gnomAD v4 |
| 17 | g.70175384A>T | CA501700463 | KCNJ2 | c.345A>T (p.Ala115=) | |
| 17 | g.70175385T>A | CA400860395 | KCNJ2 | c.346T>A (p.Ser116Thr) | |
| 17 | g.70175385T>C | CA400860396 | KCNJ2 | c.346T>C (p.Ser116Pro) | ClinVar dbSNP |
| 17 | g.70175385T>G | CA400860394 | KCNJ2 | c.346T>G (p.Ser116Ala) | |
| 17 | g.70175386C>A | CA400860397 | KCNJ2 | c.347C>A (p.Ser116Tyr) | |
| 17 | g.70175386C>G | CA400860398 | KCNJ2 | c.347C>G (p.Ser116Cys) | |
| 17 | g.70175386C>T | CA400860399 | KCNJ2 | c.347C>T (p.Ser116Phe) | |
| 17 | g.70175387C>A | CA501700468 | KCNJ2 | c.348C>A (p.Ser116=) | |
| 17 | g.70175387C>G | CA501700467 | KCNJ2 | c.348C>G (p.Ser116=) | |
| 17 | g.70175387C>T | CA501700466 | KCNJ2 | c.348C>T (p.Ser116=) | |
| 17 | g.70175388A>C | CA400860400 | KCNJ2 | c.349A>C (p.Lys117Gln) | |
| 17 | g.70175388A>G | CA400860401 | KCNJ2 | c.349A>G (p.Lys117Glu) | |
| 17 | g.70175388A>T | CA400860402 | KCNJ2 | c.349A>T (p.Lys117Ter) | |
| 17 | g.70175390del | CA2555414749 | KCNJ2 | c.351del (p.Glu118ArgfsTer26) | |
| 17 | g.70175389A>C | CA400860403 | KCNJ2 | c.350A>C (p.Lys117Thr) |