| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70175539_70175553dup | CA2573154860 | KCNJ2 | c.500_514dup (p.Ile171_Asp172insValGlyCysIleIle) | ClinVar dbSNP |
| 17 | g.70175553G>A | CA120002 | KCNJ2 | c.514G>A (p.Asp172Asn) | ClinVar dbSNP COSMIC |
| 17 | g.70175553G>C | CA400860801 | KCNJ2 | c.514G>C (p.Asp172His) | |
| 17 | g.70175553G= | CA2272996604 | KCNJ2 | c.514G= (p.Asp172=) | |
| 17 | g.70175553G>T | CA400860803 | KCNJ2 | c.514G>T (p.Asp172Tyr) | |
| 17 | g.70175554A>C | CA400860805 | KCNJ2 | c.515A>C (p.Asp172Ala) | |
| 17 | g.70175554A>G | CA400860806 | KCNJ2 | c.515A>G (p.Asp172Gly) | gnomAD v4 |
| 17 | g.70175554A>T | CA400860808 | KCNJ2 | c.515A>T (p.Asp172Val) | |
| 17 | g.70175555T>A | CA400860810 | KCNJ2 | c.516T>A (p.Asp172Glu) | |
| 17 | g.70175555T>C | CA501700795 | KCNJ2 | c.516T>C (p.Asp172=) | |
| 17 | g.70175555T>G | CA400860812 | KCNJ2 | c.516T>G (p.Asp172Glu) | |
| 17 | g.70175556G>A | CA8738739 | KCNJ2 | c.517G>A (p.Ala173Thr) | dbSNP ExAC |
| 17 | g.70175556G>C | CA400860816 | KCNJ2 | c.517G>C (p.Ala173Pro) | |
| 17 | g.70175556G= | CA2272996605 | KCNJ2 | c.517G= (p.Ala173=) | |
| 17 | g.70175556G>T | CA400860814 | KCNJ2 | c.517G>T (p.Ala173Ser) | ClinVar dbSNP |
| 17 | g.70175557C>A | CA400860819 | KCNJ2 | c.518C>A (p.Ala173Asp) | |
| 17 | g.70175557C>G | CA400860823 | KCNJ2 | c.518C>G (p.Ala173Gly) | |
| 17 | g.70175557C>T | CA400860821 | KCNJ2 | c.518C>T (p.Ala173Val) | |
| 17 | g.70175558T>A | CA501700798 | KCNJ2 | c.519T>A (p.Ala173=) | |
| 17 | g.70175558T>C | CA501700799 | KCNJ2 | c.519T>C (p.Ala173=) | |
| 17 | g.70175558T>G | CA501700801 | KCNJ2 | c.519T>G (p.Ala173=) | |
| 17 | g.70175559T>A | CA400860825 | KCNJ2 | c.520T>A (p.Phe174Ile) | |
| 17 | g.70175559T>C | CA400860827 | KCNJ2 | c.520T>C (p.Phe174Leu) | |
| 17 | g.70175559T>G | CA400860829 | KCNJ2 | c.520T>G (p.Phe174Val) | |
| 17 | g.70175560T>A | CA400860831 | KCNJ2 | c.521T>A (p.Phe174Tyr) | |
| 17 | g.70175560T>C | CA400860833 | KCNJ2 | c.521T>C (p.Phe174Ser) | |
| 17 | g.70175560T>G | CA400860835 | KCNJ2 | c.521T>G (p.Phe174Cys) | gnomAD v4 |
| 17 | g.70175561C>A | CA400860837 | KCNJ2 | c.522C>A (p.Phe174Leu) | |
| 17 | g.70175561C>G | CA400860839 | KCNJ2 | c.522C>G (p.Phe174Leu) | |
| 17 | g.70175561C>T | CA501700803 | KCNJ2 | c.522C>T (p.Phe174=) | |
| 17 | g.70175562A= | CA2272996606 | KCNJ2 | c.523A= (p.Ile175=) | |
| 17 | g.70175562A>C | CA293702916 | KCNJ2 | c.523A>C (p.Ile175Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175562A>G | CA400860843 | KCNJ2 | c.523A>G (p.Ile175Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175562A>T | CA400860844 | KCNJ2 | c.523A>T (p.Ile175Phe) | |
| 17 | g.70175563T>A | CA400860851 | KCNJ2 | c.524T>A (p.Ile175Asn) | |
| 17 | g.70175563T>C | CA400860849 | KCNJ2 | c.524T>C (p.Ile175Thr) | COSMIC |
| 17 | g.70175563T>G | CA400860847 | KCNJ2 | c.524T>G (p.Ile175Ser) | |
| 17 | g.70175563T= | CA2272996607 | KCNJ2 | c.524T= (p.Ile175=) | |
| 17 | g.70175564C>A | CA501700805 | KCNJ2 | c.525C>A (p.Ile175=) | gnomAD v4 |
| 17 | g.70175564C>G | CA400860853 | KCNJ2 | c.525C>G (p.Ile175Met) | |
| 17 | g.70175564C>T | CA501700806 | KCNJ2 | c.525C>T (p.Ile175=) | |
| 17 | g.70175565_70175570dup | CA915952198 | KCNJ2 | c.526_531dup (p.Gly177_Ala178insIleGly) | ClinVar dbSNP |
| 17 | g.70175565A>C | CA400860855 | KCNJ2 | c.526A>C (p.Ile176Leu) | |
| 17 | g.70175565A>G | CA400860858 | KCNJ2 | c.526A>G (p.Ile176Val) | |
| 17 | g.70175565A>T | CA400860860 | KCNJ2 | c.526A>T (p.Ile176Phe) | |
| 17 | g.70175566T>A | CA400860862 | KCNJ2 | c.527T>A (p.Ile176Asn) | |
| 17 | g.70175566T>C | CA400860863 | KCNJ2 | c.527T>C (p.Ile176Thr) | |
| 17 | g.70175566T>G | CA400860865 | KCNJ2 | c.527T>G (p.Ile176Ser) | |
| 17 | g.70175567T>A | CA501700807 | KCNJ2 | c.528T>A (p.Ile176=) | |
| 17 | g.70175567T>C | CA501700808 | KCNJ2 | c.528T>C (p.Ile176=) | dbSNP gnomAD v2 gnomAD v4 |