| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 17 | g.70175567T>G | CA400860867 | KCNJ2 | c.528T>G (p.Ile176Met) | |
| 17 | g.70175567T= | CA2272996608 | KCNJ2 | c.528T= (p.Ile176=) | |
| 17 | g.70175568G>A | CA400860870 | KCNJ2 | c.529G>A (p.Gly177Ser) | ClinVar dbSNP |
| 17 | g.70175568G>C | CA400860872 | KCNJ2 | c.529G>C (p.Gly177Arg) | |
| 17 | g.70175568G= | CA2272996609 | KCNJ2 | c.529G= (p.Gly177=) | |
| 17 | g.70175568G>T | CA400860874 | KCNJ2 | c.529G>T (p.Gly177Cys) | |
| 17 | g.70175569G>A | CA400860878 | KCNJ2 | c.530G>A (p.Gly177Asp) | |
| 17 | g.70175569G>C | CA293702917 | KCNJ2 | c.530G>C (p.Gly177Ala) | dbSNP |
| 17 | g.70175569G= | CA2272996610 | KCNJ2 | c.530G= (p.Gly177=) | |
| 17 | g.70175569G>T | CA400860876 | KCNJ2 | c.530G>T (p.Gly177Val) | COSMIC |
| 17 | g.70175570C>A | CA501700810 | KCNJ2 | c.531C>A (p.Gly177=) | ClinVar |
| 17 | g.70175570C= | CA2272996611 | KCNJ2 | c.531C= (p.Gly177=) | |
| 17 | g.70175570C>G | CA501700811 | KCNJ2 | c.531C>G (p.Gly177=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175570C>T | CA8738740 | KCNJ2 | c.531C>T (p.Gly177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175571G>A | CA400860881 | KCNJ2 | c.532G>A (p.Ala178Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175571G>C | CA400860884 | KCNJ2 | c.532G>C (p.Ala178Pro) | |
| 17 | g.70175571G= | CA2272996612 | KCNJ2 | c.532G= (p.Ala178=) | |
| 17 | g.70175571G>T | CA8738741 | KCNJ2 | c.532G>T (p.Ala178Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.70175572C>A | CA400860887 | KCNJ2 | c.533C>A (p.Ala178Glu) | |
| 17 | g.70175572C>G | CA400860889 | KCNJ2 | c.533C>G (p.Ala178Gly) | |
| 17 | g.70175572C>T | CA400860891 | KCNJ2 | c.533C>T (p.Ala178Val) |