Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839964G>A | CA383246259 | KCNJ1 | c.280C>T (p.His94Tyr) c.337C>T (p.His113Tyr) c.331C>T (p.His111Tyr) | |
11 | g.128839964G>C | CA383246264 | KCNJ1 | c.280C>G (p.His94Asp) c.337C>G (p.His113Asp) c.331C>G (p.His111Asp) | |
11 | g.128839964G= | CA2008251427 | KCNJ1 | c.280C= (p.His94=) c.337C= (p.His113=) c.331C= (p.His111=) | |
11 | g.128839964G>T | CA383246273 | KCNJ1 | c.280C>A (p.His94Asn) c.337C>A (p.His113Asn) c.331C>A (p.His111Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839965G>A | CA477703098 | KCNJ1 | c.279C>T (p.Phe93=) c.336C>T (p.Phe112=) c.330C>T (p.Phe110=) | COSMIC |
11 | g.128839965G>C | CA383246276 | KCNJ1 | c.279C>G (p.Phe93Leu) c.336C>G (p.Phe112Leu) c.330C>G (p.Phe110Leu) | |
11 | g.128839965G>T | CA383246282 | KCNJ1 | c.279C>A (p.Phe93Leu) c.336C>A (p.Phe112Leu) c.330C>A (p.Phe110Leu) | |
11 | g.128839966A>C | CA383246284 | KCNJ1 | c.278T>G (p.Phe93Cys) c.335T>G (p.Phe112Cys) c.329T>G (p.Phe110Cys) | |
11 | g.128839966A>G | CA383246294 | KCNJ1 | c.278T>C (p.Phe93Ser) c.335T>C (p.Phe112Ser) c.329T>C (p.Phe110Ser) | |
11 | g.128839966A>T | CA383246286 | KCNJ1 | c.278T>A (p.Phe93Tyr) c.335T>A (p.Phe112Tyr) c.329T>A (p.Phe110Tyr) | |
11 | g.128839967A>C | CA383246295 | KCNJ1 | c.277T>G (p.Phe93Val) c.334T>G (p.Phe112Val) c.328T>G (p.Phe110Val) | |
11 | g.128839967A>G | CA383246296 | KCNJ1 | c.277T>C (p.Phe93Leu) c.334T>C (p.Phe112Leu) c.328T>C (p.Phe110Leu) | |
11 | g.128839967A>T | CA383246298 | KCNJ1 | c.277T>A (p.Phe93Ile) c.334T>A (p.Phe112Ile) c.328T>A (p.Phe110Ile) | gnomAD v4 |
11 | g.128839968T>A | CA383246302 | KCNJ1 | c.276A>T (p.Glu92Asp) c.333A>T (p.Glu111Asp) c.327A>T (p.Glu109Asp) | |
11 | g.128839968T>C | CA477703103 | KCNJ1 | c.276A>G (p.Glu92=) c.333A>G (p.Glu111=) c.327A>G (p.Glu109=) | gnomAD v4 |
11 | g.128839968T>G | CA383246303 | KCNJ1 | c.276A>C (p.Glu92Asp) c.333A>C (p.Glu111Asp) c.327A>C (p.Glu109Asp) | |
11 | g.128839969T>A | CA383246313 | KCNJ1 | c.275A>T (p.Glu92Val) c.332A>T (p.Glu111Val) c.326A>T (p.Glu109Val) | |
11 | g.128839969T>C | CA383246319 | KCNJ1 | c.275A>G (p.Glu92Gly) c.332A>G (p.Glu111Gly) c.326A>G (p.Glu109Gly) | |
11 | g.128839969T>G | CA383246321 | KCNJ1 | c.275A>C (p.Glu92Ala) c.332A>C (p.Glu111Ala) c.326A>C (p.Glu109Ala) | |
11 | g.128839970C>A | CA383246322 | KCNJ1 | c.274G>T (p.Glu92Ter) c.331G>T (p.Glu111Ter) c.325G>T (p.Glu109Ter) | |
11 | g.128839970C>G | CA383246323 | KCNJ1 | c.274G>C (p.Glu92Gln) c.331G>C (p.Glu111Gln) c.325G>C (p.Glu109Gln) | gnomAD v4 |
11 | g.128839970C>T | CA383246326 | KCNJ1 | c.274G>A (p.Glu92Lys) c.331G>A (p.Glu111Lys) c.325G>A (p.Glu109Lys) | COSMIC |
11 | g.128839971C>A | CA477703107 | KCNJ1 | c.273G>T (p.Pro91=) c.330G>T (p.Pro110=) c.324G>T (p.Pro108=) | |
11 | g.128839971C= | CA2008251431 | KCNJ1 | c.273G= (p.Pro91=) c.330G= (p.Pro110=) c.324G= (p.Pro108=) | |
11 | g.128839971C>G | CA477703105 | KCNJ1 | c.273G>C (p.Pro91=) c.330G>C (p.Pro110=) c.324G>C (p.Pro108=) | |
11 | g.128839971C>T | CA6357542 | KCNJ1 | c.273G>A (p.Pro91=) c.330G>A (p.Pro110=) c.324G>A (p.Pro108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839972G>A | CA6357543 | KCNJ1 | c.272C>T (p.Pro91Leu) c.329C>T (p.Pro110Leu) c.323C>T (p.Pro108Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839972G>C | CA383246345 | KCNJ1 | c.272C>G (p.Pro91Arg) c.329C>G (p.Pro110Arg) c.323C>G (p.Pro108Arg) | |
11 | g.128839972G= | CA2008251442 | KCNJ1 | c.272C= (p.Pro91=) c.329C= (p.Pro110=) c.323C= (p.Pro108=) | |
11 | g.128839972G>T | CA6357544 | KCNJ1 | c.272C>A (p.Pro91Gln) c.329C>A (p.Pro110Gln) c.323C>A (p.Pro108Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839973G>A | CA383246350 | KCNJ1 | c.271C>T (p.Pro91Ser) c.328C>T (p.Pro110Ser) c.322C>T (p.Pro108Ser) | dbSNP gnomAD v4 |
11 | g.128839973G>C | CA383246353 | KCNJ1 | c.271C>G (p.Pro91Ala) c.328C>G (p.Pro110Ala) c.322C>G (p.Pro108Ala) | |
11 | g.128839973G= | CA2008251455 | KCNJ1 | c.271C= (p.Pro91=) c.328C= (p.Pro110=) c.322C= (p.Pro108=) | |
11 | g.128839973G>T | CA383246355 | KCNJ1 | c.271C>A (p.Pro91Thr) c.328C>A (p.Pro110Thr) c.322C>A (p.Pro108Thr) | |
11 | g.128839974G>A | CA6357545 | KCNJ1 | c.270C>T (p.Leu90=) c.327C>T (p.Leu109=) c.321C>T (p.Leu107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839974G>C | CA477703116 | KCNJ1 | c.270C>G (p.Leu90=) c.327C>G (p.Leu109=) c.321C>G (p.Leu107=) | |
11 | g.128839974G= | CA2008251458 | KCNJ1 | c.270C= (p.Leu90=) c.327C= (p.Leu109=) c.321C= (p.Leu107=) | |
11 | g.128839974G>T | CA477703115 | KCNJ1 | c.270C>A (p.Leu90=) c.327C>A (p.Leu109=) c.321C>A (p.Leu107=) | |
11 | g.128839975A>C | CA383246363 | KCNJ1 | c.269T>G (p.Leu90Arg) c.326T>G (p.Leu109Arg) c.320T>G (p.Leu107Arg) | |
11 | g.128839975A>G | CA383246366 | KCNJ1 | c.269T>C (p.Leu90Pro) c.326T>C (p.Leu109Pro) c.320T>C (p.Leu107Pro) | |
11 | g.128839975A>T | CA383246368 | KCNJ1 | c.269T>A (p.Leu90His) c.326T>A (p.Leu109His) c.320T>A (p.Leu107His) | |
11 | g.128839976G>A | CA383246371 | KCNJ1 | c.268C>T (p.Leu90Phe) c.325C>T (p.Leu109Phe) c.319C>T (p.Leu107Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839976G>C | CA383246374 | KCNJ1 | c.268C>G (p.Leu90Val) c.325C>G (p.Leu109Val) c.319C>G (p.Leu107Val) | |
11 | g.128839976G= | CA2008251461 | KCNJ1 | c.268C= (p.Leu90=) c.325C= (p.Leu109=) c.319C= (p.Leu107=) | |
11 | g.128839976G>T | CA6357546 | KCNJ1 | c.268C>A (p.Leu90Ile) c.325C>A (p.Leu109Ile) c.319C>A (p.Leu107Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839977G>A | CA230628913 | KCNJ1 | c.267C>T (p.Asp89=) c.324C>T (p.Asp108=) c.318C>T (p.Asp106=) | ClinVar dbSNP gnomAD v4 |
11 | g.128839977G>C | CA6357547 | KCNJ1 | c.267C>G (p.Asp89Glu) c.324C>G (p.Asp108Glu) c.318C>G (p.Asp106Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839977G= | CA2008251466 | KCNJ1 | c.267C= (p.Asp89=) c.324C= (p.Asp108=) c.318C= (p.Asp106=) | |
11 | g.128839977G>T | CA230628922 | KCNJ1 | c.267C>A (p.Asp89Glu) c.324C>A (p.Asp108Glu) c.318C>A (p.Asp106Glu) | dbSNP |
11 | g.128839978T>A | CA383246392 | KCNJ1 | c.266A>T (p.Asp89Val) c.323A>T (p.Asp108Val) c.317A>T (p.Asp106Val) |