| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387552G>A | CA473515491 | KCNJ11 | c.279C>T (p.Thr93=) c.540C>T (p.Thr180=) n.698C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387552G>C | CA5902284 | KCNJ11 | c.279C>G (p.Thr93=) c.540C>G (p.Thr180=) n.698C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387552G= | CA1955119306 | KCNJ11 | c.279C= (p.Thr93=) c.540C= (p.Thr180=) n.698C= | |
| 11 | g.17387552G>T | CA473515492 | KCNJ11 | c.279C>A (p.Thr93=) c.540C>A (p.Thr180=) n.698C>A | gnomAD v4 |
| 11 | g.17387553G>A | CA379772885 | KCNJ11 | c.278C>T (p.Thr93Ile) c.539C>T (p.Thr180Ile) n.697C>T | gnomAD v4 |
| 11 | g.17387553G>C | CA379772891 | KCNJ11 | c.278C>G (p.Thr93Ser) c.539C>G (p.Thr180Ser) n.697C>G | |
| 11 | g.17387553G= | CA1955119307 | KCNJ11 | c.278C= (p.Thr93=) c.539C= (p.Thr180=) n.697C= | |
| 11 | g.17387553G>T | CA379772882 | KCNJ11 | c.278C>A (p.Thr93Asn) c.539C>A (p.Thr180Asn) n.697C>A | ClinVar dbSNP |
| 11 | g.17387554T>A | CA379772896 | KCNJ11 | c.277A>T (p.Thr93Ser) c.538A>T (p.Thr180Ser) n.696A>T | |
| 11 | g.17387554T>C | CA379772901 | KCNJ11 | c.277A>G (p.Thr93Ala) c.538A>G (p.Thr180Ala) n.696A>G | |
| 11 | g.17387554T>G | CA379772904 | KCNJ11 | c.277A>C (p.Thr93Pro) c.538A>C (p.Thr180Pro) n.696A>C | |
| 11 | g.17387555C>A | CA379772905 | KCNJ11 | c.276G>T (p.Glu92Asp) c.537G>T (p.Glu179Asp) n.695G>T | |
| 11 | g.17387555C>G | CA379772906 | KCNJ11 | c.276G>C (p.Glu92Asp) c.537G>C (p.Glu179Asp) n.695G>C | |
| 11 | g.17387555C>T | CA473515494 | KCNJ11 | c.276G>A (p.Glu92=) c.537G>A (p.Glu179=) n.695G>A | ClinVar dbSNP gnomAD v4 |
| 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 |