Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387556T>A | CA379772914 | KCNJ11 | c.275A>T (p.Glu92Val) c.536A>T (p.Glu179Val) n.694A>T | |
11 | g.17387556T>C | CA379772911 | KCNJ11 | c.275A>G (p.Glu92Gly) c.536A>G (p.Glu179Gly) n.694A>G | |
11 | g.17387556T>G | CA172332 | KCNJ11 | c.275A>C (p.Glu92Ala) c.536A>C (p.Glu179Ala) n.694A>C | ClinVar dbSNP |
11 | g.17387556T= | CA1955119308 | KCNJ11 | c.275A= (p.Glu92=) c.536A= (p.Glu179=) n.694A= | |
11 | g.17387557C>A | CA379772919 | KCNJ11 | c.274G>T (p.Glu92Ter) c.535G>T (p.Glu179Ter) n.693G>T | |
11 | g.17387557C>G | CA379772923 | KCNJ11 | c.274G>C (p.Glu92Gln) c.535G>C (p.Glu179Gln) n.693G>C | |
11 | g.17387557C>T | CA379772927 | KCNJ11 | c.274G>A (p.Glu92Lys) c.535G>A (p.Glu179Lys) n.693G>A | |
11 | g.17387558A>C | CA473515495 | KCNJ11 | c.273T>G (p.Ala91=) c.534T>G (p.Ala178=) n.692T>G | |
11 | g.17387558A>G | CA473515497 | KCNJ11 | c.273T>C (p.Ala91=) c.534T>C (p.Ala178=) n.692T>C | |
11 | g.17387558A>T | CA473515496 | KCNJ11 | c.273T>A (p.Ala91=) c.534T>A (p.Ala178=) n.692T>A | |
11 | g.17387559G>A | CA379772933 | KCNJ11 | c.272C>T (p.Ala91Val) c.533C>T (p.Ala178Val) n.691C>T | |
11 | g.17387559G>C | CA379772935 | KCNJ11 | c.272C>G (p.Ala91Gly) c.533C>G (p.Ala178Gly) n.691C>G | |
11 | g.17387559G>T | CA379772940 | KCNJ11 | c.272C>A (p.Ala91Asp) c.533C>A (p.Ala178Asp) n.691C>A | gnomAD v4 |
11 | g.17387559_17387560delinsGC | CA1955119309 | KCNJ11 | c.271_272delinsGC (p.Ala91=) c.532_533delinsGC (p.Ala178=) n.690_691delinsGC | |
11 | g.17387560C>A | CA379772947 | KCNJ11 | c.271G>T (p.Ala91Ser) c.532G>T (p.Ala178Ser) n.690G>T | |
11 | g.17387560C= | CA1955119310 | KCNJ11 | c.271G= (p.Ala91=) c.532G= (p.Ala178=) n.690G= | |
11 | g.17387560C>G | CA379772956 | KCNJ11 | c.271G>C (p.Ala91Pro) c.532G>C (p.Ala178Pro) n.690G>C | |
11 | g.17387560C>T | CA5902285 | KCNJ11 | c.271G>A (p.Ala91Thr) c.532G>A (p.Ala178Thr) n.690G>A | dbSNP ExAC gnomAD v2 COSMIC |
11 | g.17387562del | CA658656127 | KCNJ11 | c.271del (p.Ala91LeufsTer11) c.532del (p.Ala178LeufsTer11) n.690del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387561C>A | CA379772962 | KCNJ11 | c.270G>T (p.Arg90Ser) c.531G>T (p.Arg177Ser) n.689G>T | |
11 | g.17387561C>G | CA379772966 | KCNJ11 | c.270G>C (p.Arg90Ser) c.531G>C (p.Arg177Ser) n.689G>C | |
11 | g.17387561C>T | CA473515498 | KCNJ11 | c.270G>A (p.Arg90=) c.531G>A (p.Arg177=) n.689G>A | |
11 | g.17387562C>A | CA379772970 | KCNJ11 | c.269G>T (p.Arg90Met) c.530G>T (p.Arg177Met) n.688G>T | |
11 | g.17387562C>G | CA379772976 | KCNJ11 | c.269G>C (p.Arg90Thr) c.530G>C (p.Arg177Thr) n.688G>C | |
11 | g.17387562C>T | CA379772978 | KCNJ11 | c.269G>A (p.Arg90Lys) c.530G>A (p.Arg177Lys) n.688G>A | |
11 | g.17387563T>A | CA379772983 | KCNJ11 | c.268A>T (p.Arg90Trp) c.529A>T (p.Arg177Trp) n.687A>T | |
11 | g.17387563T>C | CA379772987 | KCNJ11 | c.268A>G (p.Arg90Gly) c.529A>G (p.Arg177Gly) n.687A>G | |
11 | g.17387563T>G | CA473515499 | KCNJ11 | c.268A>C (p.Arg90=) c.529A>C (p.Arg177=) n.687A>C | ClinVar |
11 | g.17387564G>A | CA473515500 | KCNJ11 | c.267C>T (p.Arg89=) c.528C>T (p.Arg176=) n.686C>T | |
11 | g.17387564G>C | CA473515501 | KCNJ11 | c.267C>G (p.Arg89=) c.528C>G (p.Arg176=) n.686C>G | |
11 | g.17387564G= | CA1955119311 | KCNJ11 | c.267C= (p.Arg89=) c.528C= (p.Arg176=) n.686C= | |
11 | g.17387564G>T | CA473515502 | KCNJ11 | c.267C>A (p.Arg89=) c.528C>A (p.Arg176=) n.686C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387565C>A | CA379772992 | KCNJ11 | c.266G>T (p.Arg89Leu) c.527G>T (p.Arg176Leu) n.685G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387565C= | CA1955119312 | KCNJ11 | c.266G= (p.Arg89=) c.527G= (p.Arg176=) n.685G= | |
11 | g.17387565C>G | CA379772999 | KCNJ11 | c.266G>C (p.Arg89Pro) c.527G>C (p.Arg176Pro) n.685G>C | |
11 | g.17387565C>T | CA379773008 | KCNJ11 | c.266G>A (p.Arg89His) c.527G>A (p.Arg176His) n.685G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387566G>A | CA205789 | KCNJ11 | c.265C>T (p.Arg89Cys) c.526C>T (p.Arg176Cys) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387566G>C | CA379773015 | KCNJ11 | c.265C>G (p.Arg89Gly) c.526C>G (p.Arg176Gly) n.684C>G | |
11 | g.17387566G= | CA1955119313 | KCNJ11 | c.265C= (p.Arg89=) c.526C= (p.Arg176=) n.684C= | |
11 | g.17387566G>T | CA379773013 | KCNJ11 | c.265C>A (p.Arg89Ser) c.526C>A (p.Arg176Ser) n.684C>A | |
11 | g.17387567G>A | CA218399854 | KCNJ11 | c.264C>T (p.His88=) c.525C>T (p.His175=) n.683C>T | ClinVar dbSNP |
11 | g.17387567G>C | CA379773029 | KCNJ11 | c.264C>G (p.His88Gln) c.525C>G (p.His175Gln) n.683C>G | |
11 | g.17387567G= | CA1955119314 | KCNJ11 | c.264C= (p.His88=) c.525C= (p.His175=) n.683C= | |
11 | g.17387567G>T | CA10630460 | KCNJ11 | c.264C>A (p.His88Gln) c.525C>A (p.His175Gln) n.683C>A | ClinVar dbSNP gnomAD v4 |
11 | g.17387568T>A | CA379773037 | KCNJ11 | c.263A>T (p.His88Leu) c.524A>T (p.His175Leu) n.682A>T | |
11 | g.17387568T>C | CA379773038 | KCNJ11 | c.263A>G (p.His88Arg) c.524A>G (p.His175Arg) n.682A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387568T>G | CA379773044 | KCNJ11 | c.263A>C (p.His88Pro) c.524A>C (p.His175Pro) n.682A>C | |
11 | g.17387568T= | CA1955119315 | KCNJ11 | c.263A= (p.His88=) c.524A= (p.His175=) n.682A= | |
11 | g.17387569G>A | CA379773050 | KCNJ11 | c.262C>T (p.His88Tyr) c.523C>T (p.His175Tyr) n.681C>T | |
11 | g.17387569G>C | CA379773051 | KCNJ11 | c.262C>G (p.His88Asp) c.523C>G (p.His175Asp) n.681C>G |