| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175139A>C | CA400859862 | KCNJ2 | c.100A>C (p.Lys34Gln) | |
| 17 | g.70175139A>G | CA400859860 | KCNJ2 | c.100A>G (p.Lys34Glu) | |
| 17 | g.70175139A>T | CA400859861 | KCNJ2 | c.100A>T (p.Lys34Ter) | |
| 17 | g.70175140A= | CA2272996442 | KCNJ2 | c.101A= (p.Lys34=) | |
| 17 | g.70175140A>C | CA400859863 | KCNJ2 | c.101A>C (p.Lys34Thr) | gnomAD v4 |
| 17 | g.70175140A>G | CA8738690 | KCNJ2 | c.101A>G (p.Lys34Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.70175140A>T | CA400859864 | KCNJ2 | c.101A>T (p.Lys34Met) | |
| 17 | g.70175141G>A | CA501700205 | KCNJ2 | c.102G>A (p.Lys34=) | ClinVar dbSNP |
| 17 | g.70175141G>C | CA400859865 | KCNJ2 | c.102G>C (p.Lys34Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175141G= | CA2272996443 | KCNJ2 | c.102G= (p.Lys34=) | |
| 17 | g.70175141G>T | CA400859866 | KCNJ2 | c.102G>T (p.Lys34Asn) | ClinVar dbSNP COSMIC |
| 17 | g.70175142A= | CA2272996444 | KCNJ2 | c.103A= (p.Ser35=) | |
| 17 | g.70175142A>C | CA400859867 | KCNJ2 | c.103A>C (p.Ser35Arg) | |
| 17 | g.70175142A>G | CA400859868 | KCNJ2 | c.103A>G (p.Ser35Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175142A>T | CA400859869 | KCNJ2 | c.103A>T (p.Ser35Cys) | |
| 17 | g.70175143G>A | CA400859870 | KCNJ2 | c.104G>A (p.Ser35Asn) | |
| 17 | g.70175143G>C | CA8738691 | KCNJ2 | c.104G>C (p.Ser35Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.70175143G= | CA2272996445 | KCNJ2 | c.104G= (p.Ser35=) | |
| 17 | g.70175143G>T | CA400859871 | KCNJ2 | c.104G>T (p.Ser35Ile) | |
| 17 | g.70175144T>A | CA400859872 | KCNJ2 | c.105T>A (p.Ser35Arg) | |
| 17 | g.70175144T>C | CA501700209 | KCNJ2 | c.105T>C (p.Ser35=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.70175144T>G | CA400859873 | KCNJ2 | c.105T>G (p.Ser35Arg) | |
| 17 | g.70175144T= | CA2272996446 | KCNJ2 | c.105T= (p.Ser35=) | |
| 17 | g.70175145A>C | CA400859874 | KCNJ2 | c.106A>C (p.Lys36Gln) | |
| 17 | g.70175145A>G | CA400859876 | KCNJ2 | c.106A>G (p.Lys36Glu) | ClinVar gnomAD v4 |
| 17 | g.70175145A>T | CA400859875 | KCNJ2 | c.106A>T (p.Lys36Ter) | |
| 17 | g.70175146A>C | CA400859877 | KCNJ2 | c.107A>C (p.Lys36Thr) | gnomAD v4 |
| 17 | g.70175146A>G | CA400859878 | KCNJ2 | c.107A>G (p.Lys36Arg) | |
| 17 | g.70175146A>T | CA400859879 | KCNJ2 | c.107A>T (p.Lys36Ile) | |
| 17 | g.70175147A>C | CA400859880 | KCNJ2 | c.108A>C (p.Lys36Asn) | |
| 17 | g.70175147A>G | CA501700214 | KCNJ2 | c.108A>G (p.Lys36=) | |
| 17 | g.70175147A>T | CA400859881 | KCNJ2 | c.108A>T (p.Lys36Asn) | |
| 17 | g.70175148del | CA2639594070 | KCNJ2 | c.109del (p.Val37SerfsTer12) | gnomAD v4 |
| 17 | g.70175148G>A | CA400859884 | KCNJ2 | c.109G>A (p.Val37Ile) | |
| 17 | g.70175148G>C | CA400859883 | KCNJ2 | c.109G>C (p.Val37Leu) | |
| 17 | g.70175148G>T | CA400859882 | KCNJ2 | c.109G>T (p.Val37Phe) | |
| 17 | g.70175149T>A | CA400859885 | KCNJ2 | c.110T>A (p.Val37Asp) | |
| 17 | g.70175149T>C | CA400859886 | KCNJ2 | c.110T>C (p.Val37Ala) | |
| 17 | g.70175149T>G | CA400859887 | KCNJ2 | c.110T>G (p.Val37Gly) | |
| 17 | g.70175150C>A | CA501700222 | KCNJ2 | c.111C>A (p.Val37=) | |
| 17 | g.70175150C>G | CA501700217 | KCNJ2 | c.111C>G (p.Val37=) | |
| 17 | g.70175150C>T | CA501700219 | KCNJ2 | c.111C>T (p.Val37=) | gnomAD v4 |
| 17 | g.70175151C>A | CA400859888 | KCNJ2 | c.112C>A (p.His38Asn) | |
| 17 | g.70175151C= | CA2272996447 | KCNJ2 | c.112C= (p.His38=) | |
| 17 | g.70175151C>G | CA400859889 | KCNJ2 | c.112C>G (p.His38Asp) | |
| 17 | g.70175151C>T | CA400859890 | KCNJ2 | c.112C>T (p.His38Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.70175152A>C | CA400859891 | KCNJ2 | c.113A>C (p.His38Pro) | |
| 17 | g.70175152A>G | CA400859893 | KCNJ2 | c.113A>G (p.His38Arg) | |
| 17 | g.70175152A>T | CA400859892 | KCNJ2 | c.113A>T (p.His38Leu) |