| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175261_70175263dup | CA913184886 | KCNJ2 | c.222_224dup (p.Thr75_Cys76insThr) | |
| 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 |
| 17 | g.70175264G>A | CA8738702 | KCNJ2 | c.225G>A (p.Thr75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175264G>C | CA501700370 | KCNJ2 | c.225G>C (p.Thr75=) | |
| 17 | g.70175264G= | CA2272996496 | KCNJ2 | c.225G= (p.Thr75=) | |
| 17 | g.70175264G>T | CA8738703 | KCNJ2 | c.225G>T (p.Thr75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175265T>A | CA400860139 | KCNJ2 | c.226T>A (p.Cys76Ser) | |
| 17 | g.70175265T>C | CA400860140 | KCNJ2 | c.226T>C (p.Cys76Arg) | ClinVar |
| 17 | g.70175265T>G | CA302023 | KCNJ2 | c.226T>G (p.Cys76Gly) | ClinVar dbSNP |
| 17 | g.70175265T= | CA2272996497 | KCNJ2 | c.226T= (p.Cys76=) | |
| 17 | g.70175266G>A | CA400860143 | KCNJ2 | c.227G>A (p.Cys76Tyr) | |
| 17 | g.70175266G>C | CA400860142 | KCNJ2 | c.227G>C (p.Cys76Ser) | COSMIC |
| 17 | g.70175266G>T | CA400860141 | KCNJ2 | c.227G>T (p.Cys76Phe) | |
| 17 | g.70175267T>A | CA400860144 | KCNJ2 | c.228T>A (p.Cys76Ter) | |
| 17 | g.70175267T>C | CA501700374 | KCNJ2 | c.228T>C (p.Cys76=) | |
| 17 | g.70175267T>G | CA400860145 | KCNJ2 | c.228T>G (p.Cys76Trp) | |
| 17 | g.70175268G>A | CA400860146 | KCNJ2 | c.229G>A (p.Val77Met) | |
| 17 | g.70175268G>C | CA400860147 | KCNJ2 | c.229G>C (p.Val77Leu) | |
| 17 | g.70175268G>T | CA400860148 | KCNJ2 | c.229G>T (p.Val77Leu) | |
| 17 | g.70175269T>A | CA400860149 | KCNJ2 | c.230T>A (p.Val77Glu) | |
| 17 | g.70175269T>C | CA400860150 | KCNJ2 | c.230T>C (p.Val77Ala) | |
| 17 | g.70175269T>G | CA400860151 | KCNJ2 | c.230T>G (p.Val77Gly) | |
| 17 | g.70175270G>A | CA8738704 | KCNJ2 | c.231G>A (p.Val77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175270G>C | CA501700382 | KCNJ2 | c.231G>C (p.Val77=) | gnomAD v4 |
| 17 | g.70175270G= | CA2272996498 | KCNJ2 | c.231G= (p.Val77=) | |
| 17 | g.70175270G>T | CA501700381 | KCNJ2 | c.231G>T (p.Val77=) | |
| 17 | g.70175271G>A | CA400860152 | KCNJ2 | c.232G>A (p.Asp78Asn) | ClinVar |
| 17 | g.70175271G>C | CA400860153 | KCNJ2 | c.232G>C (p.Asp78His) | ClinVar dbSNP |
| 17 | g.70175271G= | CA2272996499 | KCNJ2 | c.232G= (p.Asp78=) | |
| 17 | g.70175271G>T | CA329651 | KCNJ2 | c.232G>T (p.Asp78Tyr) | ClinVar dbSNP |
| 17 | g.70175272A= | CA2272996500 | KCNJ2 | c.233A= (p.Asp78=) | |
| 17 | g.70175272A>C | CA400860155 | KCNJ2 | c.233A>C (p.Asp78Ala) | |
| 17 | g.70175272A>G | CA329654 | KCNJ2 | c.233A>G (p.Asp78Gly) | ClinVar dbSNP |
| 17 | g.70175272A>T | CA400860154 | KCNJ2 | c.233A>T (p.Asp78Val) | gnomAD v4 |
| 17 | g.70175273C>A | CA400860156 | KCNJ2 | c.234C>A (p.Asp78Glu) | |
| 17 | g.70175273C= | CA2272996501 | KCNJ2 | c.234C= (p.Asp78=) | |
| 17 | g.70175273C>G | CA400860157 | KCNJ2 | c.234C>G (p.Asp78Glu) | |
| 17 | g.70175273C>T | CA501700391 | KCNJ2 | c.234C>T (p.Asp78=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175274A>C | CA400860158 | KCNJ2 | c.235A>C (p.Ile79Leu) | |
| 17 | g.70175274A>G | CA400860159 | KCNJ2 | c.235A>G (p.Ile79Val) | ClinVar |
| 17 | g.70175274A>T | CA400860160 | KCNJ2 | c.235A>T (p.Ile79Phe) | |
| 17 | g.70175275T>A | CA400860161 | KCNJ2 | c.236T>A (p.Ile79Asn) |