| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175251A= | CA2272996487 | KCNJ2 | c.212A= (p.Asp71=) | |
| 17 | g.70175251A>C | CA400860113 | KCNJ2 | c.212A>C (p.Asp71Ala) | |
| 17 | g.70175251A>G | CA400860114 | KCNJ2 | c.212A>G (p.Asp71Gly) | |
| 17 | g.70175251A>T | CA254592 | KCNJ2 | c.212A>T (p.Asp71Val) | ClinVar dbSNP |
| 17 | g.70175252C>A | CA400860115 | KCNJ2 | c.213C>A (p.Asp71Glu) | |
| 17 | g.70175252C= | CA2272996488 | KCNJ2 | c.213C= (p.Asp71=) | |
| 17 | g.70175252C>G | CA400860116 | KCNJ2 | c.213C>G (p.Asp71Glu) | |
| 17 | g.70175252C>T | CA8738700 | KCNJ2 | c.213C>T (p.Asp71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175253A= | CA2272996489 | KCNJ2 | c.214A= (p.Ile72=) | |
| 17 | g.70175253A>C | CA400860119 | KCNJ2 | c.214A>C (p.Ile72Leu) | |
| 17 | g.70175253A>G | CA400860117 | KCNJ2 | c.214A>G (p.Ile72Val) | |
| 17 | g.70175253A>T | CA400860118 | KCNJ2 | c.214A>T (p.Ile72Phe) | dbSNP |
| 17 | g.70175254T>A | CA400860120 | KCNJ2 | c.215T>A (p.Ile72Asn) | |
| 17 | g.70175254T>C | CA400860121 | KCNJ2 | c.215T>C (p.Ile72Thr) | |
| 17 | g.70175254T>G | CA400860122 | KCNJ2 | c.215T>G (p.Ile72Ser) | |
| 17 | g.70175255C>A | CA501700352 | KCNJ2 | c.216C>A (p.Ile72=) | |
| 17 | g.70175255C= | CA2272996490 | KCNJ2 | c.216C= (p.Ile72=) | |
| 17 | g.70175255C>G | CA8738701 | KCNJ2 | c.216C>G (p.Ile72Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.70175255C>T | CA501700356 | KCNJ2 | c.216C>T (p.Ile72=) | COSMIC |
| 17 | g.70175256T>A | CA400860123 | KCNJ2 | c.217T>A (p.Phe73Ile) | |
| 17 | g.70175256T>C | CA400860124 | KCNJ2 | c.217T>C (p.Phe73Leu) | |
| 17 | g.70175256T>G | CA400860125 | KCNJ2 | c.217T>G (p.Phe73Val) | |
| 17 | g.70175257T>A | CA400860126 | KCNJ2 | c.218T>A (p.Phe73Tyr) | |
| 17 | g.70175257T>C | CA400860127 | KCNJ2 | c.218T>C (p.Phe73Ser) | |
| 17 | g.70175257T>G | CA400860128 | KCNJ2 | c.218T>G (p.Phe73Cys) | |
| 17 | g.70175258C>A | CA400860129 | KCNJ2 | c.219C>A (p.Phe73Leu) | COSMIC |
| 17 | g.70175258C= | CA2272996491 | KCNJ2 | c.219C= (p.Phe73=) | |
| 17 | g.70175258C>G | CA400860130 | KCNJ2 | c.219C>G (p.Phe73Leu) | |
| 17 | g.70175258C>T | CA501700360 | KCNJ2 | c.219C>T (p.Phe73=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175261_70175263dup | CA913184886 | KCNJ2 | c.222_224dup (p.Thr75_Cys76insThr) | |
| 17 | g.70175259A= | CA2272996492 | KCNJ2 | c.220A= (p.Thr74=) | |
| 17 | g.70175259A>C | CA400860132 | KCNJ2 | c.220A>C (p.Thr74Pro) | |
| 17 | g.70175259A>G | CA329645 | KCNJ2 | c.220A>G (p.Thr74Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.70175259A>T | CA400860131 | KCNJ2 | c.220A>T (p.Thr74Ser) | |
| 17 | g.70175260C>A | CA400860134 | KCNJ2 | c.221C>A (p.Thr74Asn) | |
| 17 | g.70175260C>G | CA400860133 | KCNJ2 | c.221C>G (p.Thr74Ser) | |
| 17 | g.70175260C>T | CA400860135 | KCNJ2 | c.221C>T (p.Thr74Ile) | gnomAD v4 |
| 17 | g.70175261C>A | CA501700366 | KCNJ2 | c.222C>A (p.Thr74=) | |
| 17 | g.70175261C= | CA2272996493 | KCNJ2 | c.222C= (p.Thr74=) | |
| 17 | g.70175261C>G | CA501700367 | KCNJ2 | c.222C>G (p.Thr74=) | |
| 17 | g.70175261C>T | CA293702906 | KCNJ2 | c.222C>T (p.Thr74=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175262A= | CA2272996494 | KCNJ2 | c.223A= (p.Thr75=) | |
| 17 | g.70175262A>C | CA400860136 | KCNJ2 | c.223A>C (p.Thr75Pro) | |
| 17 | g.70175262A>G | CA329648 | KCNJ2 | c.223A>G (p.Thr75Ala) | ClinVar dbSNP |
| 17 | g.70175262A>T | CA400860137 | KCNJ2 | c.223A>T (p.Thr75Ser) | |
| 17 | g.70175263C>A | CA400860138 | KCNJ2 | c.224C>A (p.Thr75Lys) | ClinVar COSMIC |
| 17 | g.70175263C= | CA2272996495 | KCNJ2 | c.224C= (p.Thr75=) | |
| 17 | g.70175263C>G | CA254602 | KCNJ2 | c.224C>G (p.Thr75Arg) | ClinVar dbSNP |
| 17 | g.70175263C>T | CA302067 | KCNJ2 | c.224C>T (p.Thr75Met) | ClinVar dbSNP COSMIC |