Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2445173_2445270del | CA2790193839 | KCNQ1 | c.24-210_24-113del (n.24-210_24-113del) c.75_172del (p.Gly26ProfsTer?) | |
11 | g.2445234_2445341del | CA2611999957 | KCNQ1 | c.24-149_24-42del (n.24-149_24-42del) c.136_243del (p.Ala46_Pro81del) | gnomAD v4 |
11 | g.2445229_2445271delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC | CA1948160883 | KCNQ1 | c.24-154_24-112delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC (n.24-154_24-112delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC) c.131_173delinsGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGC (p.Gly44=) | |
11 | g.2445233_2445274del | CA674858310 | KCNQ1 | c.24-150_24-109del (n.24-150_24-109del) c.135_176del (p.Ala46_Pro59del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445258_2445273del | CA2499220864 | KCNQ1 | c.24-125_24-110del (n.24-125_24-110del) c.160_175del (p.Ile54GlnfsTer27) | ClinVar dbSNP |
11 | g.2445259_2445282delinsTCGCGCCCGGCGCCCCAGGTCCCG | CA1948160900 | KCNQ1 | c.24-124_24-101delinsTCGCGCCCGGCGCCCCAGGTCCCG (n.24-124_24-101delinsTCGCGCCCGGCGCCCCAGGTCCCG) c.161_184delinsTCGCGCCCGGCGCCCCAGGTCCCG (p.Ile54=) | |
11 | g.2445263_2445271del | CA2611999964 | KCNQ1 | c.24-120_24-112del (n.24-120_24-112del) c.165_173del (p.Pro56_Ala58del) | gnomAD v4 |
11 | g.2445263_2445285del | CA006108 | KCNQ1 | c.24-120_24-98del (n.24-120_24-98del) c.165_187del (p.Gly57CysfsTer?) | ClinVar dbSNP |
11 | g.2445267_2445273del | CA2695213179 | KCNQ1 | c.24-116_24-110del (n.24-116_24-110del) c.169_175del (p.Gly57GlnfsTer27) | |
11 | g.2445267G>A | CA379116462 | KCNQ1 | c.24-116G>A (n.24-116G>A) c.169G>A (p.Gly57Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445267G>C | CA379116463 | KCNQ1 | c.24-116G>C (n.24-116G>C) c.169G>C (p.Gly57Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445267G= | CA1948160906 | KCNQ1 | c.24-116G= (n.24-116G=) c.169G= (p.Gly57=) | |
11 | g.2445267G>T | CA379116464 | KCNQ1 | c.24-116G>T (n.24-116G>T) c.169G>T (p.Gly57Cys) | gnomAD v4 |
11 | g.2445267_2445268insATCGCGCCC | CA2499220866 | KCNQ1 | c.24-116_24-115insATCGCGCCC (n.24-116_24-115insATCGCGCCC) c.169_170insATCGCGCCC (p.Gly57delinsAspArgAlaArg) | ClinVar dbSNP |
11 | g.2445268G>A | CA379116468 | KCNQ1 | c.24-115G>A (n.24-115G>A) c.170G>A (p.Gly57Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.2445268G>C | CA379116466 | KCNQ1 | c.24-115G>C (n.24-115G>C) c.170G>C (p.Gly57Ala) | |
11 | g.2445268G= | CA1948160907 | KCNQ1 | c.24-115G= (n.24-115G=) c.170G= (p.Gly57=) | |
11 | g.2445268G>T | CA006256 | KCNQ1 | c.24-115G>T (n.24-115G>T) c.170G>T (p.Gly57Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445269C>A | CA472415801 | KCNQ1 | c.24-114C>A (n.24-114C>A) c.171C>A (p.Gly57=) | ClinVar gnomAD v4 |
11 | g.2445269C>G | CA472415803 | KCNQ1 | c.24-114C>G (n.24-114C>G) c.171C>G (p.Gly57=) | |
11 | g.2445269C>T | CA472415806 | KCNQ1 | c.24-114C>T (n.24-114C>T) c.171C>T (p.Gly57=) | gnomAD v4 |
11 | g.2445270G>A | CA379116473 | KCNQ1 | c.24-113G>A (n.24-113G>A) c.172G>A (p.Ala58Thr) | ClinVar gnomAD v4 |
11 | g.2445270G>C | CA379116475 | KCNQ1 | c.24-113G>C (n.24-113G>C) c.172G>C (p.Ala58Pro) | gnomAD v4 |
11 | g.2445270G= | CA1948160909 | KCNQ1 | c.24-113G= (n.24-113G=) c.172G= (p.Ala58=) | |
11 | g.2445270G>T | CA379116478 | KCNQ1 | c.24-113G>T (n.24-113G>T) c.172G>T (p.Ala58Ser) | dbSNP gnomAD v4 |
11 | g.2445270_2445271delinsGC | CA1948160908 | KCNQ1 | c.24-113_24-112delinsGC (n.24-113_24-112delinsGC) c.172_173delinsGC (p.Ala58=) | |
11 | g.2445271C>A | CA379116479 | KCNQ1 | c.24-112C>A (n.24-112C>A) c.173C>A (p.Ala58Asp) | gnomAD v4 |
11 | g.2445271C= | CA1948160910 | KCNQ1 | c.24-112C= (n.24-112C=) c.173C= (p.Ala58=) | |
11 | g.2445271C>G | CA379116482 | KCNQ1 | c.24-112C>G (n.24-112C>G) c.173C>G (p.Ala58Gly) | |
11 | g.2445271C>T | CA216292634 | KCNQ1 | c.24-112C>T (n.24-112C>T) c.173C>T (p.Ala58Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445274del | CA658761309 | KCNQ1 | c.24-109del (n.24-109del) c.176del (p.Pro59GlnfsTer27) | ClinVar dbSNP gnomAD v4 |
11 | g.2445272C>A | CA472415808 | KCNQ1 | c.24-111C>A (n.24-111C>A) c.174C>A (p.Ala58=) | gnomAD v4 |
11 | g.2445272C= | CA1948160911 | KCNQ1 | c.24-111C= (n.24-111C=) c.174C= (p.Ala58=) | |
11 | g.2445272C>G | CA472415810 | KCNQ1 | c.24-111C>G (n.24-111C>G) c.174C>G (p.Ala58=) | |
11 | g.2445272C>T | CA472415809 | KCNQ1 | c.24-111C>T (n.24-111C>T) c.174C>T (p.Ala58=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445273C>A | CA379116486 | KCNQ1 | c.24-110C>A (n.24-110C>A) c.175C>A (p.Pro59Thr) | gnomAD v4 |
11 | g.2445273C= | CA1948160913 | KCNQ1 | c.24-110C= (n.24-110C=) c.175C= (p.Pro59=) | |
11 | g.2445273C>G | CA379116488 | KCNQ1 | c.24-110C>G (n.24-110C>G) c.175C>G (p.Pro59Ala) | ClinVar dbSNP |
11 | g.2445273C>T | CA379116490 | KCNQ1 | c.24-110C>T (n.24-110C>T) c.175C>T (p.Pro59Ser) | gnomAD v4 |
11 | g.2445273_2445275delinsCCA | CA1948160912 | KCNQ1 | c.24-110_24-108delinsCCA (n.24-110_24-108delinsCCA) c.175_177delinsCCA (p.Pro59=) | |
11 | g.2445274C>A | CA379116495 | KCNQ1 | c.24-109C>A (n.24-109C>A) c.176C>A (p.Pro59Gln) | gnomAD v4 |
11 | g.2445274C>G | CA379116496 | KCNQ1 | c.24-109C>G (n.24-109C>G) c.176C>G (p.Pro59Arg) | |
11 | g.2445274C>T | CA379116497 | KCNQ1 | c.24-109C>T (n.24-109C>T) c.176C>T (p.Pro59Leu) | |
11 | g.2445274_2445275del | CA597432440 | KCNQ1 | c.24-109_24-108del (n.24-109_24-108del) c.176_177del (p.Pro59ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445275A= | CA1948160914 | KCNQ1 | c.24-108A= (n.24-108A=) c.177A= (p.Pro59=) | |
11 | g.2445275A>C | CA472415811 | KCNQ1 | c.24-108A>C (n.24-108A>C) c.177A>C (p.Pro59=) | |
11 | g.2445275A>G | CA472415812 | KCNQ1 | c.24-108A>G (n.24-108A>G) c.177A>G (p.Pro59=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445275A>T | CA472415813 | KCNQ1 | c.24-108A>T (n.24-108A>T) c.177A>T (p.Pro59=) | |
11 | g.2445276G>A | CA379116508 | KCNQ1 | c.24-107G>A (n.24-107G>A) c.178G>A (p.Gly60Ser) | gnomAD v4 |
11 | g.2445276G>C | CA379116506 | KCNQ1 | c.24-107G>C (n.24-107G>C) c.178G>C (p.Gly60Arg) | gnomAD v4 |