| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175369T>A | CA400860360 | KCNJ2 | c.330T>A (p.His110Gln) | |
| 17 | g.70175369T>C | CA501700434 | KCNJ2 | c.330T>C (p.His110=) | |
| 17 | g.70175369T>G | CA400860361 | KCNJ2 | c.330T>G (p.His110Gln) | |
| 17 | g.70175370G>A | CA400860362 | KCNJ2 | c.331G>A (p.Gly111Arg) | |
| 17 | g.70175370G>C | CA400860363 | KCNJ2 | c.331G>C (p.Gly111Arg) | |
| 17 | g.70175370G>T | CA400860364 | KCNJ2 | c.331G>T (p.Gly111Trp) | |
| 17 | g.70175371G>A | CA400860365 | KCNJ2 | c.332G>A (p.Gly111Glu) | |
| 17 | g.70175371G>C | CA400860366 | KCNJ2 | c.332G>C (p.Gly111Ala) | |
| 17 | g.70175371G>T | CA400860367 | KCNJ2 | c.332G>T (p.Gly111Val) | COSMIC |
| 17 | g.70175372G>A | CA501700438 | KCNJ2 | c.333G>A (p.Gly111=) | ClinVar dbSNP |
| 17 | g.70175372G>C | CA501700439 | KCNJ2 | c.333G>C (p.Gly111=) | |
| 17 | g.70175372G>T | CA501700440 | KCNJ2 | c.333G>T (p.Gly111=) | |
| 17 | g.70175373G>A | CA400860370 | KCNJ2 | c.334G>A (p.Asp112Asn) | |
| 17 | g.70175373G>C | CA400860368 | KCNJ2 | c.334G>C (p.Asp112His) | |
| 17 | g.70175373G>T | CA400860369 | KCNJ2 | c.334G>T (p.Asp112Tyr) | ClinVar |
| 17 | g.70175374A>C | CA400860371 | KCNJ2 | c.335A>C (p.Asp112Ala) | |
| 17 | g.70175374A>G | CA400860372 | KCNJ2 | c.335A>G (p.Asp112Gly) | |
| 17 | g.70175374A>T | CA400860373 | KCNJ2 | c.335A>T (p.Asp112Val) | |
| 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) |