Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175336_70175343delinsTGGCTGTG | CA2272996526 | KCNJ2 | c.297_304delinsTGGCTGTG (p.Phe99=) | |
17 | g.70175337_70175343del | CA293702910 | KCNJ2 | c.298_304del (p.Gly100CysfsTer4) | dbSNP |
17 | g.70175340T>A | CA400860299 | KCNJ2 | c.301T>A (p.Cys101Ser) | |
17 | g.70175340T>C | CA145016 | KCNJ2 | c.301T>C (p.Cys101Arg) | ClinVar dbSNP |
17 | g.70175340T>G | CA400860300 | KCNJ2 | c.301T>G (p.Cys101Gly) | |
17 | g.70175340T= | CA2272996529 | KCNJ2 | c.301T= (p.Cys101=) | |
17 | g.70175345_70175346del | CA2639593662 | KCNJ2 | c.306_307del (p.Phe103LeufsTer?) | gnomAD v4 |
17 | g.70175341G>A | CA400860301 | KCNJ2 | c.302G>A (p.Cys101Tyr) | gnomAD v4 |
17 | g.70175341G>C | CA400860302 | KCNJ2 | c.302G>C (p.Cys101Ser) | |
17 | g.70175341G= | CA2272996530 | KCNJ2 | c.302G= (p.Cys101=) | |
17 | g.70175341G>T | CA8738712 | KCNJ2 | c.302G>T (p.Cys101Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175342T>A | CA400860303 | KCNJ2 | c.303T>A (p.Cys101Ter) | |
17 | g.70175342T>C | CA8738713 | KCNJ2 | c.303T>C (p.Cys101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175342T>G | CA400860304 | KCNJ2 | c.303T>G (p.Cys101Trp) | |
17 | g.70175342T= | CA2272996531 | KCNJ2 | c.303T= (p.Cys101=) | |
17 | g.70175343G>A | CA8738714 | KCNJ2 | c.304G>A (p.Val102Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175343G>C | CA400860305 | KCNJ2 | c.304G>C (p.Val102Leu) | |
17 | g.70175343G= | CA2272996532 | KCNJ2 | c.304G= (p.Val102=) | |
17 | g.70175343G>T | CA400860306 | KCNJ2 | c.304G>T (p.Val102Leu) | COSMIC |
17 | g.70175344T>A | CA400860307 | KCNJ2 | c.305T>A (p.Val102Glu) | |
17 | g.70175344T>C | CA400860308 | KCNJ2 | c.305T>C (p.Val102Ala) | |
17 | g.70175344T>G | CA400860309 | KCNJ2 | c.305T>G (p.Val102Gly) | |
17 | g.70175345G>A | CA501700384 | KCNJ2 | c.306G>A (p.Val102=) | gnomAD v4 |
17 | g.70175345G>C | CA501700385 | KCNJ2 | c.306G>C (p.Val102=) | ClinVar dbSNP |
17 | g.70175345G>T | CA501700386 | KCNJ2 | c.306G>T (p.Val102=) | |
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) |