| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175284G>A | CA329657 | KCNJ2 | c.245G>A (p.Arg82Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175284G>C | CA400860180 | KCNJ2 | c.245G>C (p.Arg82Pro) | |
| 17 | g.70175284G= | CA2272996505 | KCNJ2 | c.245G= (p.Arg82=) | |
| 17 | g.70175284G>T | CA400860181 | KCNJ2 | c.245G>T (p.Arg82Leu) | |
| 17 | g.70175285G>A | CA501700412 | KCNJ2 | c.246G>A (p.Arg82=) | ClinVar |
| 17 | g.70175285G>C | CA501700413 | KCNJ2 | c.246G>C (p.Arg82=) | |
| 17 | g.70175285G>T | CA501700416 | KCNJ2 | c.246G>T (p.Arg82=) | gnomAD v4 |
| 17 | g.70175286T>A | CA400860184 | KCNJ2 | c.247T>A (p.Trp83Arg) | |
| 17 | g.70175286T>C | CA400860183 | KCNJ2 | c.247T>C (p.Trp83Arg) | |
| 17 | g.70175286T>G | CA400860182 | KCNJ2 | c.247T>G (p.Trp83Gly) | |
| 17 | g.70175287G>A | CA400860185 | KCNJ2 | c.248G>A (p.Trp83Ter) | |
| 17 | g.70175287G>C | CA400860187 | KCNJ2 | c.248G>C (p.Trp83Ser) | |
| 17 | g.70175287G>T | CA400860186 | KCNJ2 | c.248G>T (p.Trp83Leu) | |
| 17 | g.70175288G>A | CA400860188 | KCNJ2 | c.249G>A (p.Trp83Ter) | |
| 17 | g.70175288G>C | CA400860189 | KCNJ2 | c.249G>C (p.Trp83Cys) | |
| 17 | g.70175288G>T | CA400860190 | KCNJ2 | c.249G>T (p.Trp83Cys) | |
| 17 | g.70175289A>C | CA400860191 | KCNJ2 | c.250A>C (p.Met84Leu) | |
| 17 | g.70175289A>G | CA400860192 | KCNJ2 | c.250A>G (p.Met84Val) | |
| 17 | g.70175289A>T | CA400860193 | KCNJ2 | c.250A>T (p.Met84Leu) | |
| 17 | g.70175290T>A | CA400860194 | KCNJ2 | c.251T>A (p.Met84Lys) | |
| 17 | g.70175290T>C | CA400860195 | KCNJ2 | c.251T>C (p.Met84Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175290T>G | CA400860196 | KCNJ2 | c.251T>G (p.Met84Arg) | |
| 17 | g.70175290T= | CA2272996506 | KCNJ2 | c.251T= (p.Met84=) | |
| 17 | g.70175291G>A | CA400860197 | KCNJ2 | c.252G>A (p.Met84Ile) | ClinVar |
| 17 | g.70175291G>C | CA400860198 | KCNJ2 | c.252G>C (p.Met84Ile) | |
| 17 | g.70175291G>T | CA400860199 | KCNJ2 | c.252G>T (p.Met84Ile) | |
| 17 | g.70175292C>A | CA400860200 | KCNJ2 | c.253C>A (p.Leu85Met) | |
| 17 | g.70175292C= | CA2272996507 | KCNJ2 | c.253C= (p.Leu85=) | |
| 17 | g.70175292C>G | CA293702907 | KCNJ2 | c.253C>G (p.Leu85Val) | dbSNP |
| 17 | g.70175292C>T | CA501700431 | KCNJ2 | c.253C>T (p.Leu85=) | |
| 17 | g.70175293T>A | CA400860201 | KCNJ2 | c.254T>A (p.Leu85Gln) | |
| 17 | g.70175293T>C | CA400860202 | KCNJ2 | c.254T>C (p.Leu85Pro) | |
| 17 | g.70175293T>G | CA400860203 | KCNJ2 | c.254T>G (p.Leu85Arg) | |
| 17 | g.70175294G>A | CA501700435 | KCNJ2 | c.255G>A (p.Leu85=) | |
| 17 | g.70175294G>C | CA501700436 | KCNJ2 | c.255G>C (p.Leu85=) | |
| 17 | g.70175294G>T | CA501700437 | KCNJ2 | c.255G>T (p.Leu85=) | |
| 17 | g.70175295G>A | CA400860204 | KCNJ2 | c.256G>A (p.Val86Ile) | ClinVar COSMIC |
| 17 | g.70175295G>C | CA400860205 | KCNJ2 | c.256G>C (p.Val86Leu) | |
| 17 | g.70175295G= | CA2272996508 | KCNJ2 | c.256G= (p.Val86=) | |
| 17 | g.70175295G>T | CA302029 | KCNJ2 | c.256G>T (p.Val86Phe) | ClinVar dbSNP |
| 17 | g.70175296T>A | CA400860206 | KCNJ2 | c.257T>A (p.Val86Asp) | |
| 17 | g.70175296T>C | CA400860207 | KCNJ2 | c.257T>C (p.Val86Ala) | |
| 17 | g.70175296T>G | CA400860208 | KCNJ2 | c.257T>G (p.Val86Gly) | |
| 17 | g.70175297T>A | CA501700444 | KCNJ2 | c.258T>A (p.Val86=) | |
| 17 | g.70175297T>C | CA501700445 | KCNJ2 | c.258T>C (p.Val86=) | |
| 17 | g.70175297T>G | CA501700446 | KCNJ2 | c.258T>G (p.Val86=) | |
| 17 | g.70175298A= | CA2272996509 | KCNJ2 | c.259A= (p.Ile87=) | |
| 17 | g.70175298A>C | CA400860209 | KCNJ2 | c.259A>C (p.Ile87Leu) | |
| 17 | g.70175298A>G | CA8738705 | KCNJ2 | c.259A>G (p.Ile87Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |