| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
| 17 | g.70175184A>C | CA400859963 | KCNJ2 | c.145A>C (p.Lys49Gln) | |
| 17 | g.70175184A>G | CA400859962 | KCNJ2 | c.145A>G (p.Lys49Glu) | |
| 17 | g.70175184A>T | CA400859961 | KCNJ2 | c.145A>T (p.Lys49Ter) | |
| 17 | g.70175185A>C | CA400859964 | KCNJ2 | c.146A>C (p.Lys49Thr) | |
| 17 | g.70175185A>G | CA400859966 | KCNJ2 | c.146A>G (p.Lys49Arg) | gnomAD v4 |
| 17 | g.70175185A>T | CA400859965 | KCNJ2 | c.146A>T (p.Lys49Met) | |
| 17 | g.70175186G>A | CA8738695 | KCNJ2 | c.147G>A (p.Lys49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.70175186G>C | CA400859967 | KCNJ2 | c.147G>C (p.Lys49Asn) | |
| 17 | g.70175186G= | CA2272996462 | KCNJ2 | c.147G= (p.Lys49=) | |
| 17 | g.70175186G>T | CA400859968 | KCNJ2 | c.147G>T (p.Lys49Asn) | |
| 17 | g.70175187A>C | CA400859969 | KCNJ2 | c.148A>C (p.Lys50Gln) | gnomAD v4 |
| 17 | g.70175187A>G | CA400859970 | KCNJ2 | c.148A>G (p.Lys50Glu) | |
| 17 | g.70175187A>T | CA400859971 | KCNJ2 | c.148A>T (p.Lys50Ter) | |
| 17 | g.70175188A>C | CA400859972 | KCNJ2 | c.149A>C (p.Lys50Thr) | |
| 17 | g.70175188A>G | CA400859973 | KCNJ2 | c.149A>G (p.Lys50Arg) | ClinVar dbSNP |
| 17 | g.70175188A>T | CA400859974 | KCNJ2 | c.149A>T (p.Lys50Ile) | |
| 17 | g.70175189A>C | CA400859975 | KCNJ2 | c.150A>C (p.Lys50Asn) | |
| 17 | g.70175189A>G | CA501700297 | KCNJ2 | c.150A>G (p.Lys50=) | gnomAD v4 |
| 17 | g.70175189A>T | CA400859976 | KCNJ2 | c.150A>T (p.Lys50Asn) | |
| 17 | g.70175190G>A | CA400859979 | KCNJ2 | c.151G>A (p.Asp51Asn) | |
| 17 | g.70175190G>C | CA400859977 | KCNJ2 | c.151G>C (p.Asp51His) | COSMIC |
| 17 | g.70175190G>T | CA400859978 | KCNJ2 | c.151G>T (p.Asp51Tyr) | |
| 17 | g.70175191A= | CA2272996463 | KCNJ2 | c.152A= (p.Asp51=) | |
| 17 | g.70175191A>C | CA400859980 | KCNJ2 | c.152A>C (p.Asp51Ala) | |
| 17 | g.70175191A>G | CA400859981 | KCNJ2 | c.152A>G (p.Asp51Gly) | dbSNP |
| 17 | g.70175191A>T | CA400859982 | KCNJ2 | c.152A>T (p.Asp51Val) | |
| 17 | g.70175192T>A | CA400859983 | KCNJ2 | c.153T>A (p.Asp51Glu) | |
| 17 | g.70175192T>C | CA501700299 | KCNJ2 | c.153T>C (p.Asp51=) | gnomAD v4 |
| 17 | g.70175192T>G | CA400859984 | KCNJ2 | c.153T>G (p.Asp51Glu) | |
| 17 | g.70175193G>A | CA400859985 | KCNJ2 | c.154G>A (p.Gly52Ser) | |
| 17 | g.70175193G>C | CA400859986 | KCNJ2 | c.154G>C (p.Gly52Arg) | |
| 17 | g.70175193G>T | CA400859987 | KCNJ2 | c.154G>T (p.Gly52Cys) | |
| 17 | g.70175194G>A | CA400859988 | KCNJ2 | c.155G>A (p.Gly52Asp) | |
| 17 | g.70175194G>C | CA400859989 | KCNJ2 | c.155G>C (p.Gly52Ala) | |
| 17 | g.70175194G= | CA2272996464 | KCNJ2 | c.155G= (p.Gly52=) | |
| 17 | g.70175194G>T | CA400859990 | KCNJ2 | c.155G>T (p.Gly52Val) | ClinVar dbSNP |
| 17 | g.70175195C>A | CA501700302 | KCNJ2 | c.156C>A (p.Gly52=) | |
| 17 | g.70175195C>G | CA501700303 | KCNJ2 | c.156C>G (p.Gly52=) | |
| 17 | g.70175195C>T | CA501700304 | KCNJ2 | c.156C>T (p.Gly52=) | |
| 17 | g.70175196C>A | CA400859992 | KCNJ2 | c.157C>A (p.His53Asn) | |
| 17 | g.70175196C>G | CA400859993 | KCNJ2 | c.157C>G (p.His53Asp) | |
| 17 | g.70175196C>T | CA400859991 | KCNJ2 | c.157C>T (p.His53Tyr) | |
| 17 | g.70175197A= | CA2272996465 | KCNJ2 | c.158A= (p.His53=) | |
| 17 | g.70175197A>C | CA400859994 | KCNJ2 | c.158A>C (p.His53Pro) | |
| 17 | g.70175197A>G | CA400859995 | KCNJ2 | c.158A>G (p.His53Arg) | ClinVar dbSNP |
| 17 | g.70175197A>T | CA400859996 | KCNJ2 | c.158A>T (p.His53Leu) | |
| 17 | g.70175198C>A | CA400859997 | KCNJ2 | c.159C>A (p.His53Gln) | |
| 17 | g.70175198C>G | CA400859998 | KCNJ2 | c.159C>G (p.His53Gln) | |
| 17 | g.70175198C>T | CA501700316 | KCNJ2 | c.159C>T (p.His53=) |