| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570635T>A | CA379129805 | KCNQ1 | c.224T>A (p.Val75Glu) c.478-12800T>A (n.478-12800T>A) c.485T>A (p.Val162Glu) c.104T>A (p.Val35Glu) c.124-12800T>A (n.124-12800T>A) | |
| 11 | g.2570635T>C | CA379129806 | KCNQ1 | c.224T>C (p.Val75Ala) c.478-12800T>C (n.478-12800T>C) c.485T>C (p.Val162Ala) c.104T>C (p.Val35Ala) c.124-12800T>C (n.124-12800T>C) | |
| 11 | g.2570635T>G | CA379129807 | KCNQ1 | c.224T>G (p.Val75Gly) c.478-12800T>G (n.478-12800T>G) c.485T>G (p.Val162Gly) c.104T>G (p.Val35Gly) c.124-12800T>G (n.124-12800T>G) | |
| 11 | g.2570636G>A | CA472037742 | KCNQ1 | c.225G>A (p.Val75=) c.478-12799G>A (n.478-12799G>A) c.486G>A (p.Val162=) c.105G>A (p.Val35=) c.124-12799G>A (n.124-12799G>A) | gnomAD v4 |
| 11 | g.2570636G>C | CA472037743 | KCNQ1 | c.225G>C (p.Val75=) c.478-12799G>C (n.478-12799G>C) c.486G>C (p.Val162=) c.105G>C (p.Val35=) c.124-12799G>C (n.124-12799G>C) | |
| 11 | g.2570636G>T | CA472037744 | KCNQ1 | c.225G>T (p.Val75=) c.478-12799G>T (n.478-12799G>T) c.486G>T (p.Val162=) c.105G>T (p.Val35=) c.124-12799G>T (n.124-12799G>T) | |
| 11 | g.2570637C>A | CA379129808 | KCNQ1 | c.226C>A (p.Leu76Met) c.478-12798C>A (n.478-12798C>A) c.487C>A (p.Leu163Met) c.106C>A (p.Leu36Met) c.124-12798C>A (n.124-12798C>A) | |
| 11 | g.2570637C= | CA1948239357 | KCNQ1 | c.226C= (p.Leu76=) c.478-12798C= (n.478-12798C=) c.487C= (p.Leu163=) c.106C= (p.Leu36=) c.124-12798C= (n.124-12798C=) | |
| 11 | g.2570637C>G | CA379129809 | KCNQ1 | c.226C>G (p.Leu76Val) c.478-12798C>G (n.478-12798C>G) c.487C>G (p.Leu163Val) c.106C>G (p.Leu36Val) c.124-12798C>G (n.124-12798C>G) | |
| 11 | g.2570637C>T | CA472037748 | KCNQ1 | c.226C>T (p.Leu76=) c.478-12798C>T (n.478-12798C>T) c.487C>T (p.Leu163=) c.106C>T (p.Leu36=) c.124-12798C>T (n.124-12798C>T) | |
| 11 | g.2570637_2570638delinsCT | CA1948239356 | KCNQ1 | c.226_227delinsCT (p.Leu76=) c.478-12798_478-12797delinsCT (n.478-12798_478-12797delinsCT) c.487_488delinsCT (p.Leu163=) c.106_107delinsCT (p.Leu36=) c.124-12798_124-12797delinsCT (n.124-12798_124-12797delinsCT) | |
| 11 | g.2570638del | CA007232 | KCNQ1 | c.227del (p.Leu76ArgfsTer?) c.478-12797del (n.478-12797del) c.488del (p.Leu163ArgfsTer?) c.107del (p.Leu36ArgfsTer?) c.124-12797del (n.124-12797del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570638T>A | CA379129810 | KCNQ1 | c.227T>A (p.Leu76Gln) c.478-12797T>A (n.478-12797T>A) c.488T>A (p.Leu163Gln) c.107T>A (p.Leu36Gln) c.124-12797T>A (n.124-12797T>A) | |
| 11 | g.2570638T>C | CA379129811 | KCNQ1 | c.227T>C (p.Leu76Pro) c.478-12797T>C (n.478-12797T>C) c.488T>C (p.Leu163Pro) c.107T>C (p.Leu36Pro) c.124-12797T>C (n.124-12797T>C) | gnomAD v4 |
| 11 | g.2570638T>G | CA379129812 | KCNQ1 | c.227T>G (p.Leu76Arg) c.478-12797T>G (n.478-12797T>G) c.488T>G (p.Leu163Arg) c.107T>G (p.Leu36Arg) c.124-12797T>G (n.124-12797T>G) | gnomAD v4 |
| 11 | g.2570643_2570645dup | CA16613558 | KCNQ1 | c.232_234dup (p.Val78_Phe79insVal) c.478-12792_478-12790dup (n.478-12792_478-12790dup) c.493_495dup (p.Val165_Phe166insVal) c.112_114dup (p.Val38_Phe39insVal) c.124-12792_124-12790dup (n.124-12792_124-12790dup) | ClinVar dbSNP |
| 11 | g.2570639G>A | CA472037750 | KCNQ1 | c.228G>A (p.Leu76=) c.478-12796G>A (n.478-12796G>A) c.489G>A (p.Leu163=) c.108G>A (p.Leu36=) c.124-12796G>A (n.124-12796G>A) | |
| 11 | g.2570639G>C | CA472037751 | KCNQ1 | c.228G>C (p.Leu76=) c.478-12796G>C (n.478-12796G>C) c.489G>C (p.Leu163=) c.108G>C (p.Leu36=) c.124-12796G>C (n.124-12796G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2570639G= | CA1948239367 | KCNQ1 | c.228G= (p.Leu76=) c.478-12796G= (n.478-12796G=) c.489G= (p.Leu163=) c.108G= (p.Leu36=) c.124-12796G= (n.124-12796G=) | |
| 11 | g.2570639G>T | CA472037752 | KCNQ1 | c.228G>T (p.Leu76=) c.478-12796G>T (n.478-12796G>T) c.489G>T (p.Leu163=) c.108G>T (p.Leu36=) c.124-12796G>T (n.124-12796G>T) | |
| 11 | g.2570639_2570640insAG | CA2612002337 | KCNQ1 | c.228_229insAG (p.Val77ArgfsTer?) c.478-12796_478-12795insAG (n.478-12796_478-12795insAG) c.489_490insAG (p.Val164ArgfsTer?) c.108_109insAG (p.Val37ArgfsTer?) c.124-12796_124-12795insAG (n.124-12796_124-12795insAG) | gnomAD v4 |
| 11 | g.2570640G>A | CA379129815 | KCNQ1 | c.229G>A (p.Val77Met) c.478-12795G>A (n.478-12795G>A) c.490G>A (p.Val164Met) c.109G>A (p.Val37Met) c.124-12795G>A (n.124-12795G>A) | |
| 11 | g.2570640G>C | CA379129814 | KCNQ1 | c.229G>C (p.Val77Leu) c.478-12795G>C (n.478-12795G>C) c.490G>C (p.Val164Leu) c.109G>C (p.Val37Leu) c.124-12795G>C (n.124-12795G>C) | |
| 11 | g.2570640G>T | CA379129813 | KCNQ1 | c.229G>T (p.Val77Leu) c.478-12795G>T (n.478-12795G>T) c.490G>T (p.Val164Leu) c.109G>T (p.Val37Leu) c.124-12795G>T (n.124-12795G>T) | gnomAD v4 |
| 11 | g.2570641T>A | CA379129816 | KCNQ1 | c.230T>A (p.Val77Glu) c.478-12794T>A (n.478-12794T>A) c.491T>A (p.Val164Glu) c.110T>A (p.Val37Glu) c.124-12794T>A (n.124-12794T>A) | |
| 11 | g.2570641T>C | CA379129817 | KCNQ1 | c.230T>C (p.Val77Ala) c.478-12794T>C (n.478-12794T>C) c.491T>C (p.Val164Ala) c.110T>C (p.Val37Ala) c.124-12794T>C (n.124-12794T>C) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2570641T>G | CA379129818 | KCNQ1 | c.230T>G (p.Val77Gly) c.478-12794T>G (n.478-12794T>G) c.491T>G (p.Val164Gly) c.110T>G (p.Val37Gly) c.124-12794T>G (n.124-12794T>G) | |
| 11 | g.2570641T= | CA1948239374 | KCNQ1 | c.230T= (p.Val77=) c.478-12794T= (n.478-12794T=) c.491T= (p.Val164=) c.110T= (p.Val37=) c.124-12794T= (n.124-12794T=) | |
| 11 | g.2570642G>A | CA472037754 | KCNQ1 | c.231G>A (p.Val77=) c.478-12793G>A (n.478-12793G>A) c.492G>A (p.Val164=) c.111G>A (p.Val37=) c.124-12793G>A (n.124-12793G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2570642G>C | CA472037756 | KCNQ1 | c.231G>C (p.Val77=) c.478-12793G>C (n.478-12793G>C) c.492G>C (p.Val164=) c.111G>C (p.Val37=) c.124-12793G>C (n.124-12793G>C) | |
| 11 | g.2570642G= | CA1948239383 | KCNQ1 | c.231G= (p.Val77=) c.478-12793G= (n.478-12793G=) c.492G= (p.Val164=) c.111G= (p.Val37=) c.124-12793G= (n.124-12793G=) | |
| 11 | g.2570642G>T | CA472037757 | KCNQ1 | c.231G>T (p.Val77=) c.478-12793G>T (n.478-12793G>T) c.492G>T (p.Val164=) c.111G>T (p.Val37=) c.124-12793G>T (n.124-12793G>T) | gnomAD v4 |
| 11 | g.2570643G>A | CA379129819 | KCNQ1 | c.232G>A (p.Val78Met) c.478-12792G>A (n.478-12792G>A) c.493G>A (p.Val165Met) c.112G>A (p.Val38Met) c.124-12792G>A (n.124-12792G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570643G>C | CA379129820 | KCNQ1 | c.232G>C (p.Val78Leu) c.478-12792G>C (n.478-12792G>C) c.493G>C (p.Val165Leu) c.112G>C (p.Val38Leu) c.124-12792G>C (n.124-12792G>C) | |
| 11 | g.2570643G= | CA1948239392 | KCNQ1 | c.232G= (p.Val78=) c.478-12792G= (n.478-12792G=) c.493G= (p.Val165=) c.112G= (p.Val38=) c.124-12792G= (n.124-12792G=) | |
| 11 | g.2570643G>T | CA379129821 | KCNQ1 | c.232G>T (p.Val78Leu) c.478-12792G>T (n.478-12792G>T) c.493G>T (p.Val165Leu) c.112G>T (p.Val38Leu) c.124-12792G>T (n.124-12792G>T) | |
| 11 | g.2570643_2570646delinsGTGT | CA1948239396 | KCNQ1 | c.232_235delinsGTGT (p.Val78=) c.478-12792_478-12789delinsGTGT (n.478-12792_478-12789delinsGTGT) c.493_496delinsGTGT (p.Val165=) c.112_115delinsGTGT (p.Val38=) c.124-12792_124-12789delinsGTGT (n.124-12792_124-12789delinsGTGT) | |
| 11 | g.2570644T>A | CA379129822 | KCNQ1 | c.233T>A (p.Val78Glu) c.478-12791T>A (n.478-12791T>A) c.494T>A (p.Val165Glu) c.113T>A (p.Val38Glu) c.124-12791T>A (n.124-12791T>A) | |
| 11 | g.2570644T>C | CA379129823 | KCNQ1 | c.233T>C (p.Val78Ala) c.478-12791T>C (n.478-12791T>C) c.494T>C (p.Val165Ala) c.113T>C (p.Val38Ala) c.124-12791T>C (n.124-12791T>C) | ClinVar dbSNP |
| 11 | g.2570644T>G | CA379129824 | KCNQ1 | c.233T>G (p.Val78Gly) c.478-12791T>G (n.478-12791T>G) c.494T>G (p.Val165Gly) c.113T>G (p.Val38Gly) c.124-12791T>G (n.124-12791T>G) | |
| 11 | g.2570644T= | CA1948239410 | KCNQ1 | c.233T= (p.Val78=) c.478-12791T= (n.478-12791T=) c.494T= (p.Val165=) c.113T= (p.Val38=) c.124-12791T= (n.124-12791T=) | |
| 11 | g.2570645_2570647del | CA915947932 | KCNQ1 | c.234_236del (p.Phe79del) c.478-12790_478-12788del (n.478-12790_478-12788del) c.495_497del (p.Phe166del) c.114_116del (p.Phe39del) c.124-12790_124-12788del (n.124-12790_124-12788del) | ClinVar dbSNP |
| 11 | g.2570645G>A | CA472037758 | KCNQ1 | c.234G>A (p.Val78=) c.478-12790G>A (n.478-12790G>A) c.495G>A (p.Val165=) c.114G>A (p.Val38=) c.124-12790G>A (n.124-12790G>A) | ClinVar gnomAD v4 |
| 11 | g.2570645G>C | CA472037759 | KCNQ1 | c.234G>C (p.Val78=) c.478-12790G>C (n.478-12790G>C) c.495G>C (p.Val165=) c.114G>C (p.Val38=) c.124-12790G>C (n.124-12790G>C) | |
| 11 | g.2570645G>T | CA472037760 | KCNQ1 | c.234G>T (p.Val78=) c.478-12790G>T (n.478-12790G>T) c.495G>T (p.Val165=) c.114G>T (p.Val38=) c.124-12790G>T (n.124-12790G>T) | |
| 11 | g.2570645_2570648delinsGTTC | CA1948239416 | KCNQ1 | c.234_237delinsGTTC (p.Val78=) c.478-12790_478-12787delinsGTTC (n.478-12790_478-12787delinsGTTC) c.495_498delinsGTTC (p.Val165=) c.114_117delinsGTTC (p.Val38=) c.124-12790_124-12787delinsGTTC (n.124-12790_124-12787delinsGTTC) | |
| 11 | g.2570646T>A | CA379129825 | KCNQ1 | c.235T>A (p.Phe79Ile) c.478-12789T>A (n.478-12789T>A) c.496T>A (p.Phe166Ile) c.115T>A (p.Phe39Ile) c.124-12789T>A (n.124-12789T>A) | |
| 11 | g.2570646T>C | CA379129826 | KCNQ1 | c.235T>C (p.Phe79Leu) c.478-12789T>C (n.478-12789T>C) c.496T>C (p.Phe166Leu) c.115T>C (p.Phe39Leu) c.124-12789T>C (n.124-12789T>C) | |
| 11 | g.2570646T>G | CA038022 | KCNQ1 | c.235T>G (p.Phe79Val) c.478-12789T>G (n.478-12789T>G) c.496T>G (p.Phe166Val) c.115T>G (p.Phe39Val) c.124-12789T>G (n.124-12789T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2570646T= | CA1948239428 | KCNQ1 | c.235T= (p.Phe79=) c.478-12789T= (n.478-12789T=) c.496T= (p.Phe166=) c.115T= (p.Phe39=) c.124-12789T= (n.124-12789T=) |