| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175355A>C | CA400860332 | KCNJ2 | c.316A>C (p.Ile106Leu) | |
| 17 | g.70175355A>G | CA400860333 | KCNJ2 | c.316A>G (p.Ile106Val) | |
| 17 | g.70175355A>T | CA400860334 | KCNJ2 | c.316A>T (p.Ile106Leu) | |
| 17 | g.70175356T>A | CA400860335 | KCNJ2 | c.317T>A (p.Ile106Lys) | |
| 17 | g.70175356T>C | CA400860336 | KCNJ2 | c.317T>C (p.Ile106Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175356T>G | CA400860337 | KCNJ2 | c.317T>G (p.Ile106Arg) | |
| 17 | g.70175356T= | CA2272996535 | KCNJ2 | c.317T= (p.Ile106=) | |
| 17 | g.70175357A>C | CA501700406 | KCNJ2 | c.318A>C (p.Ile106=) | |
| 17 | g.70175357A>G | CA400860338 | KCNJ2 | c.318A>G (p.Ile106Met) | |
| 17 | g.70175357A>T | CA501700408 | KCNJ2 | c.318A>T (p.Ile106=) | |
| 17 | g.70175358G>A | CA400860341 | KCNJ2 | c.319G>A (p.Ala107Thr) | |
| 17 | g.70175358G>C | CA400860340 | KCNJ2 | c.319G>C (p.Ala107Pro) | |
| 17 | g.70175358G>T | CA400860339 | KCNJ2 | c.319G>T (p.Ala107Ser) | |
| 17 | g.70175359C>A | CA400860342 | KCNJ2 | c.320C>A (p.Ala107Asp) | |
| 17 | g.70175359C>G | CA400860343 | KCNJ2 | c.320C>G (p.Ala107Gly) | |
| 17 | g.70175359C>T | CA400860344 | KCNJ2 | c.320C>T (p.Ala107Val) | |
| 17 | g.70175360T>A | CA501700414 | KCNJ2 | c.321T>A (p.Ala107=) | |
| 17 | g.70175360T>C | CA501700415 | KCNJ2 | c.321T>C (p.Ala107=) | ClinVar dbSNP |
| 17 | g.70175360T>G | CA501700417 | KCNJ2 | c.321T>G (p.Ala107=) | |
| 17 | g.70175360T= | CA2272996536 | KCNJ2 | c.321T= (p.Ala107=) | |
| 17 | g.70175361C>A | CA400860345 | KCNJ2 | c.322C>A (p.Leu108Met) | |
| 17 | g.70175361C= | CA2272996537 | KCNJ2 | c.322C= (p.Leu108=) | |
| 17 | g.70175361C>G | CA400860346 | KCNJ2 | c.322C>G (p.Leu108Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.70175361C>T | CA293702912 | KCNJ2 | c.322C>T (p.Leu108=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175362T>A | CA400860347 | KCNJ2 | c.323T>A (p.Leu108Gln) | |
| 17 | g.70175362T>C | CA400860348 | KCNJ2 | c.323T>C (p.Leu108Pro) | |
| 17 | g.70175362T>G | CA400860349 | KCNJ2 | c.323T>G (p.Leu108Arg) | |
| 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) |