| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175400G>A | CA400860428 | KCNJ2 | c.361G>A (p.Ala121Thr) | |
| 17 | g.70175400G>C | CA400860429 | KCNJ2 | c.361G>C (p.Ala121Pro) | |
| 17 | g.70175400G>T | CA400860430 | KCNJ2 | c.361G>T (p.Ala121Ser) | |
| 17 | g.70175401C>A | CA400860431 | KCNJ2 | c.362C>A (p.Ala121Asp) | |
| 17 | g.70175401C>G | CA400860432 | KCNJ2 | c.362C>G (p.Ala121Gly) | |
| 17 | g.70175401C>T | CA400860433 | KCNJ2 | c.362C>T (p.Ala121Val) | |
| 17 | g.70175401dup | CA2567199791 | KCNJ2 | c.362dup (p.Cys122LeufsTer17) | |
| 17 | g.70175402T>A | CA501700499 | KCNJ2 | c.363T>A (p.Ala121=) | gnomAD v4 |
| 17 | g.70175402T>C | CA501700498 | KCNJ2 | c.363T>C (p.Ala121=) | |
| 17 | g.70175402T>G | CA501700496 | KCNJ2 | c.363T>G (p.Ala121=) | |
| 17 | g.70175402_70175403del | CA2518498541 | KCNJ2 | c.363_364del (p.Ser124ArgfsTer14) | |
| 17 | g.70175403T>A | CA400860434 | KCNJ2 | c.364T>A (p.Cys122Ser) | |
| 17 | g.70175403T>C | CA400860435 | KCNJ2 | c.364T>C (p.Cys122Arg) | |
| 17 | g.70175403T>G | CA400860436 | KCNJ2 | c.364T>G (p.Cys122Gly) | |
| 17 | g.70175404G>A | CA400860437 | KCNJ2 | c.365G>A (p.Cys122Tyr) | ClinVar dbSNP |
| 17 | g.70175404G>C | CA400860438 | KCNJ2 | c.365G>C (p.Cys122Ser) | |
| 17 | g.70175404G= | CA2272996550 | KCNJ2 | c.365G= (p.Cys122=) | |
| 17 | g.70175404G>T | CA400860439 | KCNJ2 | c.365G>T (p.Cys122Phe) | |
| 17 | g.70175405T>A | CA400860441 | KCNJ2 | c.366T>A (p.Cys122Ter) | |
| 17 | g.70175405T>C | CA8738721 | KCNJ2 | c.366T>C (p.Cys122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175405T>G | CA400860440 | KCNJ2 | c.366T>G (p.Cys122Trp) | |
| 17 | g.70175405T= | CA2272996551 | KCNJ2 | c.366T= (p.Cys122=) | |
| 17 | g.70175406G>A | CA400860442 | KCNJ2 | c.367G>A (p.Val123Met) | |
| 17 | g.70175406G>C | CA400860443 | KCNJ2 | c.367G>C (p.Val123Leu) | |
| 17 | g.70175406G>T | CA400860444 | KCNJ2 | c.367G>T (p.Val123Leu) | |
| 17 | g.70175407T>A | CA400860445 | KCNJ2 | c.368T>A (p.Val123Glu) | |
| 17 | g.70175407T>C | CA400860446 | KCNJ2 | c.368T>C (p.Val123Ala) | |
| 17 | g.70175407T>G | CA329660 | KCNJ2 | c.368T>G (p.Val123Gly) | ClinVar dbSNP |
| 17 | g.70175407T= | CA2272996552 | KCNJ2 | c.368T= (p.Val123=) | |
| 17 | g.70175408G>A | CA501700508 | KCNJ2 | c.369G>A (p.Val123=) | |
| 17 | g.70175408G>C | CA501700513 | KCNJ2 | c.369G>C (p.Val123=) | |
| 17 | g.70175408G>T | CA501700512 | KCNJ2 | c.369G>T (p.Val123=) | |
| 17 | g.70175409T>A | CA400860447 | KCNJ2 | c.370T>A (p.Ser124Thr) | |
| 17 | g.70175409T>C | CA400860448 | KCNJ2 | c.370T>C (p.Ser124Pro) | |
| 17 | g.70175409T>G | CA400860449 | KCNJ2 | c.370T>G (p.Ser124Ala) | |
| 17 | g.70175410C>A | CA400860450 | KCNJ2 | c.371C>A (p.Ser124Tyr) | |
| 17 | g.70175410C>G | CA400860451 | KCNJ2 | c.371C>G (p.Ser124Cys) | ClinVar dbSNP |
| 17 | g.70175410C>T | CA400860452 | KCNJ2 | c.371C>T (p.Ser124Phe) | |
| 17 | g.70175410_70175411insT | CA2525009054 | KCNJ2 | c.371_372insT (p.Glu125ArgfsTer14) | |
| 17 | g.70175411C>A | CA501700517 | KCNJ2 | c.372C>A (p.Ser124=) | |
| 17 | g.70175411C= | CA2272996553 | KCNJ2 | c.372C= (p.Ser124=) | |
| 17 | g.70175411C>G | CA501700521 | KCNJ2 | c.372C>G (p.Ser124=) | |
| 17 | g.70175411C>T | CA291733 | KCNJ2 | c.372C>T (p.Ser124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.70175412G>A | CA400860455 | KCNJ2 | c.373G>A (p.Glu125Lys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.70175412G>C | CA400860454 | KCNJ2 | c.373G>C (p.Glu125Gln) | |
| 17 | g.70175412G= | CA2272996554 | KCNJ2 | c.373G= (p.Glu125=) | |
| 17 | g.70175412G>T | CA400860453 | KCNJ2 | c.373G>T (p.Glu125Ter) | |
| 17 | g.70175412_70175413insC | CA2569970912 | KCNJ2 | c.373_374insC (p.Glu125AlafsTer14) | |
| 17 | g.70175413A>C | CA400860456 | KCNJ2 | c.374A>C (p.Glu125Ala) |