Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387512C>A | CA379772471 | KCNJ11 | c.319G>T (p.Gly107Cys) c.580G>T (p.Gly194Cys) n.738G>T | |
11 | g.17387512C= | CA1955119288 | KCNJ11 | c.319G= (p.Gly107=) c.580G= (p.Gly194=) n.738G= | |
11 | g.17387512C>G | CA379772475 | KCNJ11 | c.319G>C (p.Gly107Arg) c.580G>C (p.Gly194Arg) n.738G>C | |
11 | g.17387512C>T | CA379772468 | KCNJ11 | c.319G>A (p.Gly107Ser) c.580G>A (p.Gly194Ser) n.738G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387513G>A | CA5902276 | KCNJ11 | c.318C>T (p.His106=) c.579C>T (p.His193=) n.737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387513G>C | CA379772479 | KCNJ11 | c.318C>G (p.His106Gln) c.579C>G (p.His193Gln) n.737C>G | |
11 | g.17387513G= | CA1955119289 | KCNJ11 | c.318C= (p.His106=) c.579C= (p.His193=) n.737C= | |
11 | g.17387513G>T | CA379772489 | KCNJ11 | c.318C>A (p.His106Gln) c.579C>A (p.His193Gln) n.737C>A | gnomAD v4 |
11 | g.17387514T>A | CA379772493 | KCNJ11 | c.317A>T (p.His106Leu) c.578A>T (p.His193Leu) n.736A>T | |
11 | g.17387514T>C | CA5902277 | KCNJ11 | c.317A>G (p.His106Arg) c.578A>G (p.His193Arg) n.736A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387514T>G | CA379772513 | KCNJ11 | c.317A>C (p.His106Pro) c.578A>C (p.His193Pro) n.736A>C | dbSNP |
11 | g.17387514T= | CA1955119290 | KCNJ11 | c.317A= (p.His106=) c.578A= (p.His193=) n.736A= | |
11 | g.17387515G>A | CA379772516 | KCNJ11 | c.316C>T (p.His106Tyr) c.577C>T (p.His193Tyr) n.735C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387515G>C | CA379772521 | KCNJ11 | c.316C>G (p.His106Asp) c.577C>G (p.His193Asp) n.735C>G | |
11 | g.17387515G= | CA1955119291 | KCNJ11 | c.316C= (p.His106=) c.577C= (p.His193=) n.735C= | |
11 | g.17387515G>T | CA379772530 | KCNJ11 | c.316C>A (p.His106Asn) c.577C>A (p.His193Asn) n.735C>A | |
11 | g.17387516G>A | CA473515446 | KCNJ11 | c.315C>T (p.Arg105=) c.576C>T (p.Arg192=) n.734C>T | gnomAD v4 |
11 | g.17387516G>C | CA473515448 | KCNJ11 | c.315C>G (p.Arg105=) c.576C>G (p.Arg192=) n.734C>G | gnomAD v4 |
11 | g.17387516G>T | CA473515447 | KCNJ11 | c.315C>A (p.Arg105=) c.576C>A (p.Arg192=) n.734C>A | gnomAD v4 |
11 | g.17387517C>A | CA5902278 | KCNJ11 | c.314G>T (p.Arg105Leu) c.575G>T (p.Arg192Leu) n.733G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387517C= | CA1955119292 | KCNJ11 | c.314G= (p.Arg105=) c.575G= (p.Arg192=) n.733G= | |
11 | g.17387517C>G | CA379772540 | KCNJ11 | c.314G>C (p.Arg105Pro) c.575G>C (p.Arg192Pro) n.733G>C | |
11 | g.17387517C>T | CA5902279 | KCNJ11 | c.314G>A (p.Arg105His) c.575G>A (p.Arg192His) n.733G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387518G>A | CA5902280 | KCNJ11 | c.313C>T (p.Arg105Cys) c.574C>T (p.Arg192Cys) n.732C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.17387518G>C | CA379772552 | KCNJ11 | c.313C>G (p.Arg105Gly) c.574C>G (p.Arg192Gly) n.732C>G | |
11 | g.17387518G= | CA1955119293 | KCNJ11 | c.313C= (p.Arg105=) c.574C= (p.Arg192=) n.732C= | |
11 | g.17387518G>T | CA379772555 | KCNJ11 | c.313C>A (p.Arg105Ser) c.574C>A (p.Arg192Ser) n.732C>A | gnomAD v4 |
11 | g.17387519C>A | CA473515450 | KCNJ11 | c.312G>T (p.Leu104=) c.573G>T (p.Leu191=) n.731G>T | |
11 | g.17387519C>G | CA473515451 | KCNJ11 | c.312G>C (p.Leu104=) c.573G>C (p.Leu191=) n.731G>C | |
11 | g.17387519C>T | CA473515452 | KCNJ11 | c.312G>A (p.Leu104=) c.573G>A (p.Leu191=) n.731G>A | gnomAD v4 |
11 | g.17387520A= | CA1955119294 | KCNJ11 | c.311T= (p.Leu104=) c.572T= (p.Leu191=) n.730T= | |
11 | g.17387520A>C | CA379772567 | KCNJ11 | c.311T>G (p.Leu104Arg) c.572T>G (p.Leu191Arg) n.730T>G | dbSNP |
11 | g.17387520A>G | CA379772566 | KCNJ11 | c.311T>C (p.Leu104Pro) c.572T>C (p.Leu191Pro) n.730T>C | |
11 | g.17387520A>T | CA379772562 | KCNJ11 | c.311T>A (p.Leu104Gln) c.572T>A (p.Leu191Gln) n.730T>A | |
11 | g.17387521G>A | CA473515453 | KCNJ11 | c.310C>T (p.Leu104=) c.571C>T (p.Leu191=) n.729C>T | |
11 | g.17387521G>C | CA379772568 | KCNJ11 | c.310C>G (p.Leu104Val) c.571C>G (p.Leu191Val) n.729C>G | gnomAD v4 |
11 | g.17387521G>T | CA379772569 | KCNJ11 | c.310C>A (p.Leu104Met) c.571C>A (p.Leu191Met) n.729C>A | |
11 | g.17387522G>A | CA172336 | KCNJ11 | c.309C>T (p.Ala103=) c.570C>T (p.Ala190=) n.728C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387522G>C | CA473515457 | KCNJ11 | c.309C>G (p.Ala103=) c.570C>G (p.Ala190=) n.728C>G | |
11 | g.17387522G= | CA1955119295 | KCNJ11 | c.309C= (p.Ala103=) c.570C= (p.Ala190=) n.728C= | |
11 | g.17387522G>T | CA5902281 | KCNJ11 | c.309C>A (p.Ala103=) c.570C>A (p.Ala190=) n.728C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387523G>A | CA379772578 | KCNJ11 | c.308C>T (p.Ala103Val) c.569C>T (p.Ala190Val) n.727C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387523G>C | CA379772582 | KCNJ11 | c.308C>G (p.Ala103Gly) c.569C>G (p.Ala190Gly) n.727C>G | |
11 | g.17387523G= | CA1955119296 | KCNJ11 | c.308C= (p.Ala103=) c.569C= (p.Ala190=) n.727C= | |
11 | g.17387523G>T | CA379772586 | KCNJ11 | c.308C>A (p.Ala103Asp) c.569C>A (p.Ala190Asp) n.727C>A | dbSNP gnomAD v4 |
11 | g.17387524C>A | CA379772592 | KCNJ11 | c.307G>T (p.Ala103Ser) c.568G>T (p.Ala190Ser) n.726G>T | gnomAD v4 |
11 | g.17387524C= | CA1955119297 | KCNJ11 | c.307G= (p.Ala103=) c.568G= (p.Ala190=) n.726G= | |
11 | g.17387524C>G | CA218399831 | KCNJ11 | c.307G>C (p.Ala103Pro) c.568G>C (p.Ala190Pro) n.726G>C | dbSNP |
11 | g.17387524C>T | CA5902282 | KCNJ11 | c.307G>A (p.Ala103Thr) c.568G>A (p.Ala190Thr) n.726G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387525G>A | CA207806 | KCNJ11 | c.306C>T (p.Ile102=) c.567C>T (p.Ile189=) n.725C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |