Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175345_70175346del | CA2639593662 | KCNJ2 | c.306_307del (p.Phe103LeufsTer?) | gnomAD v4 |
17 | g.70175346T>A | CA400860310 | KCNJ2 | c.307T>A (p.Phe103Ile) | |
17 | g.70175346T>C | CA400860311 | KCNJ2 | c.307T>C (p.Phe103Leu) | gnomAD v4 |
17 | g.70175346T>G | CA400860312 | KCNJ2 | c.307T>G (p.Phe103Val) | |
17 | g.70175347T>A | CA400860315 | KCNJ2 | c.308T>A (p.Phe103Tyr) | |
17 | g.70175347T>C | CA400860313 | KCNJ2 | c.308T>C (p.Phe103Ser) | |
17 | g.70175347T>G | CA400860314 | KCNJ2 | c.308T>G (p.Phe103Cys) | |
17 | g.70175348T>A | CA400860316 | KCNJ2 | c.309T>A (p.Phe103Leu) | |
17 | g.70175348T>C | CA501700390 | KCNJ2 | c.309T>C (p.Phe103=) | |
17 | g.70175348T>G | CA400860317 | KCNJ2 | c.309T>G (p.Phe103Leu) | |
17 | g.70175349T>A | CA400860318 | KCNJ2 | c.310T>A (p.Trp104Arg) | |
17 | g.70175349T>C | CA400860319 | KCNJ2 | c.310T>C (p.Trp104Arg) | |
17 | g.70175349T>G | CA400860320 | KCNJ2 | c.310T>G (p.Trp104Gly) | |
17 | g.70175350G>A | CA400860321 | KCNJ2 | c.311G>A (p.Trp104Ter) | |
17 | g.70175350G>C | CA400860322 | KCNJ2 | c.311G>C (p.Trp104Ser) | |
17 | g.70175350G>T | CA400860323 | KCNJ2 | c.311G>T (p.Trp104Leu) | |
17 | g.70175351G>A | CA400860324 | KCNJ2 | c.312G>A (p.Trp104Ter) | |
17 | g.70175351G>C | CA400860325 | KCNJ2 | c.312G>C (p.Trp104Cys) | |
17 | g.70175351G= | CA2272996533 | KCNJ2 | c.312G= (p.Trp104=) | |
17 | g.70175351G>T | CA293702911 | KCNJ2 | c.312G>T (p.Trp104Cys) | dbSNP |
17 | g.70175352T>A | CA8738715 | KCNJ2 | c.313T>A (p.Leu105Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175352T>C | CA501700398 | KCNJ2 | c.313T>C (p.Leu105=) | gnomAD v4 |
17 | g.70175352T>G | CA400860326 | KCNJ2 | c.313T>G (p.Leu105Val) | |
17 | g.70175352T= | CA2272996534 | KCNJ2 | c.313T= (p.Leu105=) | |
17 | g.70175353T>A | CA400860327 | KCNJ2 | c.314T>A (p.Leu105Ter) | |
17 | g.70175353T>C | CA400860328 | KCNJ2 | c.314T>C (p.Leu105Ser) | |
17 | g.70175353T>G | CA400860329 | KCNJ2 | c.314T>G (p.Leu105Trp) | gnomAD v4 |
17 | g.70175354G>A | CA501700400 | KCNJ2 | c.315G>A (p.Leu105=) | gnomAD v4 |
17 | g.70175354G>C | CA400860330 | KCNJ2 | c.315G>C (p.Leu105Phe) | |
17 | g.70175354G>T | CA400860331 | KCNJ2 | c.315G>T (p.Leu105Phe) | |
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=) |