| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583535C>A | CA004880 | KCNQ1 | c.761C>A (p.Ala254Glu) c.578C>A (p.Ala193Glu) c.1022C>A (p.Ala341Glu) c.641C>A (p.Ala214Glu) c.224C>A (p.Ala75Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583535C= | CA1948225116 | KCNQ1 | c.761C= (p.Ala254=) c.578C= (p.Ala193=) c.1022C= (p.Ala341=) c.641C= (p.Ala214=) c.224C= (p.Ala75=) | |
| 11 | g.2583535C>G | CA004889 | KCNQ1 | c.761C>G (p.Ala254Gly) c.578C>G (p.Ala193Gly) c.1022C>G (p.Ala341Gly) c.641C>G (p.Ala214Gly) c.224C>G (p.Ala75Gly) | ClinVar dbSNP |
| 11 | g.2583535C>T | CA004897 | KCNQ1 | c.761C>T (p.Ala254Val) c.578C>T (p.Ala193Val) c.1022C>T (p.Ala341Val) c.641C>T (p.Ala214Val) c.224C>T (p.Ala75Val) | ClinVar dbSNP COSMIC |
| 11 | g.2583536G>A | CA026730 | KCNQ1 | c.762G>A (p.Ala254=) c.579G>A (p.Ala193=) c.1023G>A (p.Ala341=) c.642G>A (p.Ala214=) c.225G>A (p.Ala75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583536G>C | CA472038453 | KCNQ1 | c.762G>C (p.Ala254=) c.579G>C (p.Ala193=) c.1023G>C (p.Ala341=) c.642G>C (p.Ala214=) c.225G>C (p.Ala75=) | |
| 11 | g.2583536G= | CA1948225124 | KCNQ1 | c.762G= (p.Ala254=) c.579G= (p.Ala193=) c.1023G= (p.Ala341=) c.642G= (p.Ala214=) c.225G= (p.Ala75=) | |
| 11 | g.2583536G>T | CA472038454 | KCNQ1 | c.762G>T (p.Ala254=) c.579G>T (p.Ala193=) c.1023G>T (p.Ala341=) c.642G>T (p.Ala214=) c.225G>T (p.Ala75=) | |
| 11 | g.2583536_2583537delinsTT | CA2695213189 | KCNQ1 | c.762_763delinsTT (p.Leu255Phe) c.579_580delinsTT (p.Leu194Phe) c.1023_1024delinsTT (p.Leu342Phe) c.642_643delinsTT (p.Leu215Phe) c.225_226delinsTT (p.Leu76Phe) | |
| 11 | g.2583537C>A | CA379133126 | KCNQ1 | c.763C>A (p.Leu255Ile) c.580C>A (p.Leu194Ile) c.1024C>A (p.Leu342Ile) c.643C>A (p.Leu215Ile) c.226C>A (p.Leu76Ile) | |
| 11 | g.2583537C= | CA1948225134 | KCNQ1 | c.763C= (p.Leu255=) c.580C= (p.Leu194=) c.1024C= (p.Leu342=) c.643C= (p.Leu215=) c.226C= (p.Leu76=) | |
| 11 | g.2583537C>G | CA379133127 | KCNQ1 | c.763C>G (p.Leu255Val) c.580C>G (p.Leu194Val) c.1024C>G (p.Leu342Val) c.643C>G (p.Leu215Val) c.226C>G (p.Leu76Val) | |
| 11 | g.2583537C>T | CA004906 | KCNQ1 | c.763C>T (p.Leu255Phe) c.580C>T (p.Leu194Phe) c.1024C>T (p.Leu342Phe) c.643C>T (p.Leu215Phe) c.226C>T (p.Leu76Phe) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2583538T>A | CA16613516 | KCNQ1 | c.764T>A (p.Leu255His) c.581T>A (p.Leu194His) c.1025T>A (p.Leu342His) c.644T>A (p.Leu215His) c.227T>A (p.Leu76His) | ClinVar dbSNP |
| 11 | g.2583538T>C | CA004915 | KCNQ1 | c.764T>C (p.Leu255Pro) c.581T>C (p.Leu194Pro) c.1025T>C (p.Leu342Pro) c.644T>C (p.Leu215Pro) c.227T>C (p.Leu76Pro) | dbSNP gnomAD v4 |
| 11 | g.2583538T>G | CA379133128 | KCNQ1 | c.764T>G (p.Leu255Arg) c.581T>G (p.Leu194Arg) c.1025T>G (p.Leu342Arg) c.644T>G (p.Leu215Arg) c.227T>G (p.Leu76Arg) | gnomAD v4 |
| 11 | g.2583538T= | CA1948225138 | KCNQ1 | c.764T= (p.Leu255=) c.581T= (p.Leu194=) c.1025T= (p.Leu342=) c.644T= (p.Leu215=) c.227T= (p.Leu76=) | |
| 11 | g.2583539C>A | CA472038455 | KCNQ1 | c.765C>A (p.Leu255=) c.582C>A (p.Leu194=) c.1026C>A (p.Leu342=) c.645C>A (p.Leu215=) c.228C>A (p.Leu76=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583539C= | CA1948225139 | KCNQ1 | c.765C= (p.Leu255=) c.582C= (p.Leu194=) c.1026C= (p.Leu342=) c.645C= (p.Leu215=) c.228C= (p.Leu76=) | |
| 11 | g.2583539C>G | CA472038456 | KCNQ1 | c.765C>G (p.Leu255=) c.582C>G (p.Leu194=) c.1026C>G (p.Leu342=) c.645C>G (p.Leu215=) c.228C>G (p.Leu76=) | dbSNP |
| 11 | g.2583539C>T | CA472038457 | KCNQ1 | c.765C>T (p.Leu255=) c.582C>T (p.Leu194=) c.1026C>T (p.Leu342=) c.645C>T (p.Leu215=) c.228C>T (p.Leu76=) | gnomAD v4 |
| 11 | g.2583540C>A | CA379133129 | KCNQ1 | c.766C>A (p.Pro256Thr) c.583C>A (p.Pro195Thr) c.1027C>A (p.Pro343Thr) c.646C>A (p.Pro216Thr) c.229C>A (p.Pro77Thr) | |
| 11 | g.2583540C= | CA1948225144 | KCNQ1 | c.766C= (p.Pro256=) c.583C= (p.Pro195=) c.1027C= (p.Pro343=) c.646C= (p.Pro216=) c.229C= (p.Pro77=) | |
| 11 | g.2583540C>G | CA379133130 | KCNQ1 | c.766C>G (p.Pro256Ala) c.583C>G (p.Pro195Ala) c.1027C>G (p.Pro343Ala) c.646C>G (p.Pro216Ala) c.229C>G (p.Pro77Ala) | |
| 11 | g.2583540C>T | CA004923 | KCNQ1 | c.766C>T (p.Pro256Ser) c.583C>T (p.Pro195Ser) c.1027C>T (p.Pro343Ser) c.646C>T (p.Pro216Ser) c.229C>T (p.Pro77Ser) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2583541C>A | CA379133131 | KCNQ1 | c.767C>A (p.Pro256Gln) c.584C>A (p.Pro195Gln) c.1028C>A (p.Pro343Gln) c.647C>A (p.Pro216Gln) c.230C>A (p.Pro77Gln) | |
| 11 | g.2583541C= | CA1948225165 | KCNQ1 | c.767C= (p.Pro256=) c.584C= (p.Pro195=) c.1028C= (p.Pro343=) c.647C= (p.Pro216=) c.230C= (p.Pro77=) | |
| 11 | g.2583541C>G | CA004932 | KCNQ1 | c.767C>G (p.Pro256Arg) c.584C>G (p.Pro195Arg) c.1028C>G (p.Pro343Arg) c.647C>G (p.Pro216Arg) c.230C>G (p.Pro77Arg) | ClinVar dbSNP |
| 11 | g.2583541C>T | CA004942 | KCNQ1 | c.767C>T (p.Pro256Leu) c.584C>T (p.Pro195Leu) c.1028C>T (p.Pro343Leu) c.647C>T (p.Pro216Leu) c.230C>T (p.Pro77Leu) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2583542_2583544dup | CA305978 | KCNQ1 | c.768_770dup (p.Ala257_Thr258insAla) c.585_587dup (p.Ala196_Thr197insAla) c.1029_1031dup (p.Ala344_Gly345insAla) c.648_650dup (p.Ala217_Gly218insAla) c.231_233dup (p.Ala78_Thr79insAla) | ClinVar dbSNP |
| 11 | g.2583542A= | CA1948225177 | KCNQ1 | c.768A= (p.Pro256=) c.585A= (p.Pro195=) c.1029A= (p.Pro343=) c.648A= (p.Pro216=) c.231A= (p.Pro77=) | |
| 11 | g.2583542A>C | CA472038458 | KCNQ1 | c.768A>C (p.Pro256=) c.585A>C (p.Pro195=) c.1029A>C (p.Pro343=) c.648A>C (p.Pro216=) c.231A>C (p.Pro77=) | |
| 11 | g.2583542A>G | CA472038459 | KCNQ1 | c.768A>G (p.Pro256=) c.585A>G (p.Pro195=) c.1029A>G (p.Pro343=) c.648A>G (p.Pro216=) c.231A>G (p.Pro77=) | |
| 11 | g.2583542A>T | CA472038460 | KCNQ1 | c.768A>T (p.Pro256=) c.585A>T (p.Pro195=) c.1029A>T (p.Pro343=) c.648A>T (p.Pro216=) c.231A>T (p.Pro77=) | dbSNP |
| 11 | g.2583543G>A | CA379133132 | KCNQ1 | c.769G>A (p.Ala257Thr) c.586G>A (p.Ala196Thr) c.1030G>A (p.Ala344Thr) c.649G>A (p.Ala217Thr) c.232G>A (p.Ala78Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583543G>C | CA379133133 | KCNQ1 | c.769G>C (p.Ala257Pro) c.586G>C (p.Ala196Pro) c.1030G>C (p.Ala344Pro) c.649G>C (p.Ala217Pro) c.232G>C (p.Ala78Pro) | |
| 11 | g.2583543G= | CA1948225183 | KCNQ1 | c.769G= (p.Ala257=) c.586G= (p.Ala196=) c.1030G= (p.Ala344=) c.649G= (p.Ala217=) c.232G= (p.Ala78=) | |
| 11 | g.2583543G>T | CA379133134 | KCNQ1 | c.769G>T (p.Ala257Ser) c.586G>T (p.Ala196Ser) c.1030G>T (p.Ala344Ser) c.649G>T (p.Ala217Ser) c.232G>T (p.Ala78Ser) | |
| 11 | g.2583544C>A | CA004955 | KCNQ1 | c.770C>A (p.Ala257Glu) c.587C>A (p.Ala196Glu) c.1031C>A (p.Ala344Glu) c.650C>A (p.Ala217Glu) c.233C>A (p.Ala78Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583544C= | CA1948225194 | KCNQ1 | c.770C= (p.Ala257=) c.587C= (p.Ala196=) c.1031C= (p.Ala344=) c.650C= (p.Ala217=) c.233C= (p.Ala78=) | |
| 11 | g.2583544C>G | CA004959 | KCNQ1 | c.770C>G (p.Ala257Gly) c.587C>G (p.Ala196Gly) c.1031C>G (p.Ala344Gly) c.650C>G (p.Ala217Gly) c.233C>G (p.Ala78Gly) | ClinVar dbSNP |
| 11 | g.2583544C>T | CA004967 | KCNQ1 | c.770C>T (p.Ala257Val) c.587C>T (p.Ala196Val) c.1031C>T (p.Ala344Val) c.650C>T (p.Ala217Val) c.233C>T (p.Ala78Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2583545G>A | CA005005 | KCNQ1 | c.771G>A (p.Ala257=) c.588G>A (p.Ala196=) c.1032G>A (p.Ala344=) c.651G>A (p.Ala217=) c.234G>A (p.Ala78=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583545G>C | CA005015 | KCNQ1 | c.771G>C (p.Ala257=) c.588G>C (p.Ala196=) c.1032G>C (p.Ala344=) c.651G>C (p.Ala217=) c.234G>C (p.Ala78=) | ClinVar dbSNP |
| 11 | g.2583545G= | CA1948225206 | KCNQ1 | c.771G= (p.Ala257=) c.588G= (p.Ala196=) c.1032G= (p.Ala344=) c.651G= (p.Ala217=) c.234G= (p.Ala78=) | |
| 11 | g.2583545G>T | CA472038461 | KCNQ1 | c.771G>T (p.Ala257=) c.588G>T (p.Ala196=) c.1032G>T (p.Ala344=) c.651G>T (p.Ala217=) c.234G>T (p.Ala78=) | ClinVar dbSNP |
| 11 | g.2583546_2587569del | CA1139661776 | KCNQ1 | c.771+1_772-1del c.588+1_589-1del c.1032+1_1129-1del c.651+1_748-1del c.234+1_235-1del | ClinVar |
| 11 | g.2583546G>A | CA004984 | KCNQ1 | c.771+1G>A (n.771+1G>A) c.588+1G>A (n.588+1G>A) c.1032+1G>A (n.1032+1G>A) c.651+1G>A (n.651+1G>A) c.234+1G>A (n.234+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2583546G>C | CA379133135 | KCNQ1 | c.771+1G>C (n.771+1G>C) c.588+1G>C (n.588+1G>C) c.1032+1G>C (n.1032+1G>C) c.651+1G>C (n.651+1G>C) c.234+1G>C (n.234+1G>C) | ClinVar |
| 11 | g.2583546G= | CA1948225219 | KCNQ1 | c.771+1G= (n.771+1G=) c.588+1G= (n.588+1G=) c.1032+1G= (n.1032+1G=) c.651+1G= (n.651+1G=) c.234+1G= (n.234+1G=) |