Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | ClinVar 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=) | |
11 | g.2583546G>T | CA379133136 | KCNQ1 | c.771+1G>T (n.771+1G>T) c.588+1G>T (n.588+1G>T) c.1032+1G>T (n.1032+1G>T) c.651+1G>T (n.651+1G>T) c.234+1G>T (n.234+1G>T) | ClinVar |
11 | g.2583547T>A | CA379133137 | KCNQ1 | c.771+2T>A (n.771+2T>A) c.588+2T>A (n.588+2T>A) c.1032+2T>A (n.1032+2T>A) c.651+2T>A (n.651+2T>A) c.234+2T>A (n.234+2T>A) | |
11 | g.2583547T>C | CA379133138 | KCNQ1 | c.771+2T>C (n.771+2T>C) c.588+2T>C (n.588+2T>C) c.1032+2T>C (n.1032+2T>C) c.651+2T>C (n.651+2T>C) c.234+2T>C (n.234+2T>C) | ClinVar dbSNP |
11 | g.2583547T>G | CA379133139 | KCNQ1 | c.771+2T>G (n.771+2T>G) c.588+2T>G (n.588+2T>G) c.1032+2T>G (n.1032+2T>G) c.651+2T>G (n.651+2T>G) c.234+2T>G (n.234+2T>G) | |
11 | g.2583547T= | CA1948225225 | KCNQ1 | c.771+2T= (n.771+2T=) c.588+2T= (n.588+2T=) c.1032+2T= (n.1032+2T=) c.651+2T= (n.651+2T=) c.234+2T= (n.234+2T=) | |
11 | g.2583548del | CA2612002617 | KCNQ1 | c.771+3del (n.771+3del) c.588+3del (n.588+3del) c.1032+3del (n.1032+3del) c.651+3del (n.651+3del) c.234+3del (n.234+3del) | gnomAD v4 |
11 | g.2583548A= | CA1948225227 | KCNQ1 | c.771+3A= (n.771+3A=) c.588+3A= (n.588+3A=) c.1032+3A= (n.1032+3A=) c.651+3A= (n.651+3A=) c.234+3A= (n.234+3A=) | |
11 | g.2583548A>G | CA2580082607 | KCNQ1 | c.771+3A>G (n.771+3A>G) c.588+3A>G (n.588+3A>G) c.1032+3A>G (n.1032+3A>G) c.651+3A>G (n.651+3A>G) c.234+3A>G (n.234+3A>G) | ClinVar |
11 | g.2583548A>T | CA2580082608 | KCNQ1 | c.771+3A>T (n.771+3A>T) c.588+3A>T (n.588+3A>T) c.1032+3A>T (n.1032+3A>T) c.651+3A>T (n.651+3A>T) c.234+3A>T (n.234+3A>T) | ClinVar |
11 | g.2583549G>C | CA2740093573 | KCNQ1 | c.771+4G>C (n.771+4G>C) c.588+4G>C (n.588+4G>C) c.1032+4G>C (n.1032+4G>C) c.651+4G>C (n.651+4G>C) c.234+4G>C (n.234+4G>C) | ClinVar |
11 | g.2583550dup | CA305983 | KCNQ1 | c.771+5dup (n.771+5dup) c.588+5dup (n.588+5dup) c.1032+5dup (n.1032+5dup) c.651+5dup (n.651+5dup) c.234+5dup (n.234+5dup) | ClinVar dbSNP |
11 | g.2583550G>A | CA004997 | KCNQ1 | c.771+5G>A (n.771+5G>A) c.588+5G>A (n.588+5G>A) c.1032+5G>A (n.1032+5G>A) c.651+5G>A (n.651+5G>A) c.234+5G>A (n.234+5G>A) | ClinVar dbSNP |
11 | g.2583550G>C | CA2695213190 | KCNQ1 | c.771+5G>C (n.771+5G>C) c.588+5G>C (n.588+5G>C) c.1032+5G>C (n.1032+5G>C) c.651+5G>C (n.651+5G>C) c.234+5G>C (n.234+5G>C) |