Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
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) | |
17 | g.70175389A>G | CA400860405 | KCNJ2 | c.350A>G (p.Lys117Arg) | |
17 | g.70175389A>T | CA400860404 | KCNJ2 | c.350A>T (p.Lys117Ile) | |
17 | g.70175390A>C | CA400860406 | KCNJ2 | c.351A>C (p.Lys117Asn) | |
17 | g.70175390A>G | CA501700473 | KCNJ2 | c.351A>G (p.Lys117=) | |
17 | g.70175390A>T | CA400860407 | KCNJ2 | c.351A>T (p.Lys117Asn) | |
17 | g.70175390_70175394del | CA2501509048 | KCNJ2 | c.351_355del (p.Glu118GlnfsTer19) | |
17 | g.70175391G>A | CA400860408 | KCNJ2 | c.352G>A (p.Glu118Lys) | gnomAD v4 |
17 | g.70175391G>C | CA400860409 | KCNJ2 | c.352G>C (p.Glu118Gln) | |
17 | g.70175391G>T | CA400860410 | KCNJ2 | c.352G>T (p.Glu118Ter) | COSMIC |
17 | g.70175392A>C | CA400860412 | KCNJ2 | c.353A>C (p.Glu118Ala) | |
17 | g.70175392A>G | CA400860413 | KCNJ2 | c.353A>G (p.Glu118Gly) | |
17 | g.70175392A>T | CA400860411 | KCNJ2 | c.353A>T (p.Glu118Val) | |
17 | g.70175393G>A | CA501700480 | KCNJ2 | c.354G>A (p.Glu118=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175393G>C | CA8738719 | KCNJ2 | c.354G>C (p.Glu118Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175393G= | CA2272996547 | KCNJ2 | c.354G= (p.Glu118=) | |
17 | g.70175393G>T | CA400860414 | KCNJ2 | c.354G>T (p.Glu118Asp) | |
17 | g.70175393_70175396del | CA2500676983 | KCNJ2 | c.354_357del (p.Gly119LysfsTer24) | |
17 | g.70175394G>A | CA400860415 | KCNJ2 | c.355G>A (p.Gly119Ser) | |
17 | g.70175394G>C | CA400860416 | KCNJ2 | c.355G>C (p.Gly119Arg) | |
17 | g.70175394G>T | CA400860417 | KCNJ2 | c.355G>T (p.Gly119Cys) | |
17 | g.70175395G>A | CA400860418 | KCNJ2 | c.356G>A (p.Gly119Asp) | |
17 | g.70175395G>C | CA400860419 | KCNJ2 | c.356G>C (p.Gly119Ala) | |
17 | g.70175395G= | CA2272996548 | KCNJ2 | c.356G= (p.Gly119=) | |
17 | g.70175395G>T | CA400860420 | KCNJ2 | c.356G>T (p.Gly119Val) | dbSNP gnomAD v4 |
17 | g.70175395_70175396insAAAATAA | CA2518234900 | KCNJ2 | c.356_357insAAAATAA (p.Ala121Ter) | |
17 | g.70175396C>A | CA501700486 | KCNJ2 | c.357C>A (p.Gly119=) | |
17 | g.70175396C>G | CA501700488 | KCNJ2 | c.357C>G (p.Gly119=) | |
17 | g.70175396C>T | CA501700489 | KCNJ2 | c.357C>T (p.Gly119=) | |
17 | g.70175397A>C | CA400860421 | KCNJ2 | c.358A>C (p.Lys120Gln) | |
17 | g.70175397A>G | CA400860422 | KCNJ2 | c.358A>G (p.Lys120Glu) | |
17 | g.70175397A>T | CA400860423 | KCNJ2 | c.358A>T (p.Lys120Ter) | |
17 | g.70175398A= | CA2272996549 | KCNJ2 | c.359A= (p.Lys120=) |