| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175363G>A | CA293702913 | KCNJ2 | c.324G>A (p.Leu108=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175363G>C | CA501700423 | KCNJ2 | c.324G>C (p.Leu108=) | |
| 17 | g.70175363G= | CA2272996538 | KCNJ2 | c.324G= (p.Leu108=) | |
| 17 | g.70175363G>T | CA501700424 | KCNJ2 | c.324G>T (p.Leu108=) | |
| 17 | g.70175364C>A | CA400860350 | KCNJ2 | c.325C>A (p.Leu109Ile) | |
| 17 | g.70175364C= | CA2272996539 | KCNJ2 | c.325C= (p.Leu109=) | |
| 17 | g.70175364C>G | CA400860351 | KCNJ2 | c.325C>G (p.Leu109Val) | |
| 17 | g.70175364C>T | CA400860352 | KCNJ2 | c.325C>T (p.Leu109Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175365T>A | CA400860355 | KCNJ2 | c.326T>A (p.Leu109His) | ClinVar |
| 17 | g.70175365T>C | CA400860354 | KCNJ2 | c.326T>C (p.Leu109Pro) | ClinVar dbSNP |
| 17 | g.70175365T>G | CA400860353 | KCNJ2 | c.326T>G (p.Leu109Arg) | |
| 17 | g.70175365T= | CA2272996540 | KCNJ2 | c.326T= (p.Leu109=) | |
| 17 | g.70175366C>A | CA501700426 | KCNJ2 | c.327C>A (p.Leu109=) | |
| 17 | g.70175366C= | CA2272996541 | KCNJ2 | c.327C= (p.Leu109=) | |
| 17 | g.70175366C>G | CA501700427 | KCNJ2 | c.327C>G (p.Leu109=) | gnomAD v4 |
| 17 | g.70175366C>T | CA8738716 | KCNJ2 | c.327C>T (p.Leu109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.70175367C>A | CA400860357 | KCNJ2 | c.328C>A (p.His110Asn) | |
| 17 | g.70175367C= | CA2272996542 | KCNJ2 | c.328C= (p.His110=) | |
| 17 | g.70175367C>G | CA400860356 | KCNJ2 | c.328C>G (p.His110Asp) | |
| 17 | g.70175367C>T | CA302032 | KCNJ2 | c.328C>T (p.His110Tyr) | ClinVar dbSNP |
| 17 | g.70175368A= | CA2272996543 | KCNJ2 | c.329A= (p.His110=) | |
| 17 | g.70175368A>C | CA400860358 | KCNJ2 | c.329A>C (p.His110Pro) | |
| 17 | g.70175368A>G | CA8738717 | KCNJ2 | c.329A>G (p.His110Arg) | dbSNP ExAC gnomAD v2 |
| 17 | g.70175368A>T | CA400860359 | KCNJ2 | c.329A>T (p.His110Leu) | |
| 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) |