| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572963G>A | CA008554 | KCNQ1 | c.637G>A (p.Ala213Thr) c.478-10472G>A (n.478-10472G>A) c.898G>A (p.Ala300Thr) c.517G>A (p.Ala173Thr) c.124-10472G>A (n.124-10472G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572963G>C | CA379131695 | KCNQ1 | c.637G>C (p.Ala213Pro) c.478-10472G>C (n.478-10472G>C) c.898G>C (p.Ala300Pro) c.517G>C (p.Ala173Pro) c.124-10472G>C (n.124-10472G>C) | |
| 11 | g.2572963G= | CA1948212285 | KCNQ1 | c.637G= (p.Ala213=) c.478-10472G= (n.478-10472G=) c.898G= (p.Ala300=) c.517G= (p.Ala173=) c.124-10472G= (n.124-10472G=) | |
| 11 | g.2572963G>T | CA379131697 | KCNQ1 | c.637G>T (p.Ala213Ser) c.478-10472G>T (n.478-10472G>T) c.898G>T (p.Ala300Ser) c.517G>T (p.Ala173Ser) c.124-10472G>T (n.124-10472G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572964C>A | CA16613563 | KCNQ1 | c.638C>A (p.Ala213Glu) c.478-10471C>A (n.478-10471C>A) c.899C>A (p.Ala300Glu) c.518C>A (p.Ala173Glu) c.124-10471C>A (n.124-10471C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572964C= | CA1948212297 | KCNQ1 | c.638C= (p.Ala213=) c.478-10471C= (n.478-10471C=) c.899C= (p.Ala300=) c.518C= (p.Ala173=) c.124-10471C= (n.124-10471C=) | |
| 11 | g.2572964C>G | CA379131700 | KCNQ1 | c.638C>G (p.Ala213Gly) c.478-10471C>G (n.478-10471C>G) c.899C>G (p.Ala300Gly) c.518C>G (p.Ala173Gly) c.124-10471C>G (n.124-10471C>G) | dbSNP gnomAD v4 |
| 11 | g.2572964C>T | CA379131701 | KCNQ1 | c.638C>T (p.Ala213Val) c.478-10471C>T (n.478-10471C>T) c.899C>T (p.Ala300Val) c.518C>T (p.Ala173Val) c.124-10471C>T (n.124-10471C>T) | |
| 11 | g.2572965A= | CA1948212305 | KCNQ1 | c.639A= (p.Ala213=) c.478-10470A= (n.478-10470A=) c.900A= (p.Ala300=) c.519A= (p.Ala173=) c.124-10470A= (n.124-10470A=) | |
| 11 | g.2572965A>C | CA008569 | KCNQ1 | c.639A>C (p.Ala213=) c.478-10470A>C (n.478-10470A>C) c.900A>C (p.Ala300=) c.519A>C (p.Ala173=) c.124-10470A>C (n.124-10470A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572965A>G | CA472038194 | KCNQ1 | c.639A>G (p.Ala213=) c.478-10470A>G (n.478-10470A>G) c.900A>G (p.Ala300=) c.519A>G (p.Ala173=) c.124-10470A>G (n.124-10470A>G) | gnomAD v4 |
| 11 | g.2572965A>T | CA472038195 | KCNQ1 | c.639A>T (p.Ala213=) c.478-10470A>T (n.478-10470A>T) c.900A>T (p.Ala300=) c.519A>T (p.Ala173=) c.124-10470A>T (n.124-10470A>T) | |
| 11 | g.2572966G>A | CA379131710 | KCNQ1 | c.640G>A (p.Asp214Asn) c.478-10469G>A (n.478-10469G>A) c.901G>A (p.Asp301Asn) c.520G>A (p.Asp174Asn) c.124-10469G>A (n.124-10469G>A) | COSMIC |
| 11 | g.2572966G>C | CA379131707 | KCNQ1 | c.640G>C (p.Asp214His) c.478-10469G>C (n.478-10469G>C) c.901G>C (p.Asp301His) c.520G>C (p.Asp174His) c.124-10469G>C (n.124-10469G>C) | |
| 11 | g.2572966G>T | CA379131713 | KCNQ1 | c.640G>T (p.Asp214Tyr) c.478-10469G>T (n.478-10469G>T) c.901G>T (p.Asp301Tyr) c.520G>T (p.Asp174Tyr) c.124-10469G>T (n.124-10469G>T) | |
| 11 | g.2572967A= | CA1948212316 | KCNQ1 | c.641A= (p.Asp214=) c.478-10468A= (n.478-10468A=) c.902A= (p.Asp301=) c.521A= (p.Asp174=) c.124-10468A= (n.124-10468A=) | |
| 11 | g.2572967A>C | CA379131715 | KCNQ1 | c.641A>C (p.Asp214Ala) c.478-10468A>C (n.478-10468A>C) c.902A>C (p.Asp301Ala) c.521A>C (p.Asp174Ala) c.124-10468A>C (n.124-10468A>C) | |
| 11 | g.2572967A>G | CA379131718 | KCNQ1 | c.641A>G (p.Asp214Gly) c.478-10468A>G (n.478-10468A>G) c.902A>G (p.Asp301Gly) c.521A>G (p.Asp174Gly) c.124-10468A>G (n.124-10468A>G) | dbSNP |
| 11 | g.2572967A>T | CA379131717 | KCNQ1 | c.641A>T (p.Asp214Val) c.478-10468A>T (n.478-10468A>T) c.902A>T (p.Asp301Val) c.521A>T (p.Asp174Val) c.124-10468A>T (n.124-10468A>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572968T>A | CA379131721 | KCNQ1 | c.642T>A (p.Asp214Glu) c.478-10467T>A (n.478-10467T>A) c.903T>A (p.Asp301Glu) c.522T>A (p.Asp174Glu) c.124-10467T>A (n.124-10467T>A) | |
| 11 | g.2572968T>C | CA472038196 | KCNQ1 | c.642T>C (p.Asp214=) c.478-10467T>C (n.478-10467T>C) c.903T>C (p.Asp301=) c.522T>C (p.Asp174=) c.124-10467T>C (n.124-10467T>C) | dbSNP |
| 11 | g.2572968T>G | CA379131723 | KCNQ1 | c.642T>G (p.Asp214Glu) c.478-10467T>G (n.478-10467T>G) c.903T>G (p.Asp301Glu) c.522T>G (p.Asp174Glu) c.124-10467T>G (n.124-10467T>G) | |
| 11 | g.2572969G>A | CA008575 | KCNQ1 | c.643G>A (p.Ala215Thr) c.478-10466G>A (n.478-10466G>A) c.904G>A (p.Ala302Thr) c.523G>A (p.Ala175Thr) c.124-10466G>A (n.124-10466G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572969G>C | CA379131729 | KCNQ1 | c.643G>C (p.Ala215Pro) c.478-10466G>C (n.478-10466G>C) c.904G>C (p.Ala302Pro) c.523G>C (p.Ala175Pro) c.124-10466G>C (n.124-10466G>C) | |
| 11 | g.2572969G= | CA1948212324 | KCNQ1 | c.643G= (p.Ala215=) c.478-10466G= (n.478-10466G=) c.904G= (p.Ala302=) c.523G= (p.Ala175=) c.124-10466G= (n.124-10466G=) | |
| 11 | g.2572969G>T | CA379131727 | KCNQ1 | c.643G>T (p.Ala215Ser) c.478-10466G>T (n.478-10466G>T) c.904G>T (p.Ala302Ser) c.523G>T (p.Ala175Ser) c.124-10466G>T (n.124-10466G>T) | |
| 11 | g.2572970C>A | CA008583 | KCNQ1 | c.644C>A (p.Ala215Glu) c.478-10465C>A (n.478-10465C>A) c.905C>A (p.Ala302Glu) c.524C>A (p.Ala175Glu) c.124-10465C>A (n.124-10465C>A) | ClinVar dbSNP |
| 11 | g.2572970C= | CA1948212334 | KCNQ1 | c.644C= (p.Ala215=) c.478-10465C= (n.478-10465C=) c.905C= (p.Ala302=) c.524C= (p.Ala175=) c.124-10465C= (n.124-10465C=) | |
| 11 | g.2572970C>G | CA379131737 | KCNQ1 | c.644C>G (p.Ala215Gly) c.478-10465C>G (n.478-10465C>G) c.905C>G (p.Ala302Gly) c.524C>G (p.Ala175Gly) c.124-10465C>G (n.124-10465C>G) | |
| 11 | g.2572970C>T | CA008587 | KCNQ1 | c.644C>T (p.Ala215Val) c.478-10465C>T (n.478-10465C>T) c.905C>T (p.Ala302Val) c.524C>T (p.Ala175Val) c.124-10465C>T (n.124-10465C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572971G>A | CA041359 | KCNQ1 | c.645G>A (p.Ala215=) c.478-10464G>A (n.478-10464G>A) c.906G>A (p.Ala302=) c.525G>A (p.Ala175=) c.124-10464G>A (n.124-10464G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572971G>C | CA472038197 | KCNQ1 | c.645G>C (p.Ala215=) c.478-10464G>C (n.478-10464G>C) c.906G>C (p.Ala302=) c.525G>C (p.Ala175=) c.124-10464G>C (n.124-10464G>C) | |
| 11 | g.2572971G= | CA1948212345 | KCNQ1 | c.645G= (p.Ala215=) c.478-10464G= (n.478-10464G=) c.906G= (p.Ala302=) c.525G= (p.Ala175=) c.124-10464G= (n.124-10464G=) | |
| 11 | g.2572971G>T | CA041371 | KCNQ1 | c.645G>T (p.Ala215=) c.478-10464G>T (n.478-10464G>T) c.906G>T (p.Ala302=) c.525G>T (p.Ala175=) c.124-10464G>T (n.124-10464G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572972C>A | CA379131742 | KCNQ1 | c.646C>A (p.Leu216Met) c.478-10463C>A (n.478-10463C>A) c.907C>A (p.Leu303Met) c.526C>A (p.Leu176Met) c.124-10463C>A (n.124-10463C>A) | |
| 11 | g.2572972C>G | CA379131743 | KCNQ1 | c.646C>G (p.Leu216Val) c.478-10463C>G (n.478-10463C>G) c.907C>G (p.Leu303Val) c.526C>G (p.Leu176Val) c.124-10463C>G (n.124-10463C>G) | |
| 11 | g.2572972C>T | CA472038198 | KCNQ1 | c.646C>T (p.Leu216=) c.478-10463C>T (n.478-10463C>T) c.907C>T (p.Leu303=) c.526C>T (p.Leu176=) c.124-10463C>T (n.124-10463C>T) | |
| 11 | g.2572973T>A | CA379131745 | KCNQ1 | c.647T>A (p.Leu216Gln) c.478-10462T>A (n.478-10462T>A) c.908T>A (p.Leu303Gln) c.527T>A (p.Leu176Gln) c.124-10462T>A (n.124-10462T>A) | |
| 11 | g.2572973T>C | CA008593 | KCNQ1 | c.647T>C (p.Leu216Pro) c.478-10462T>C (n.478-10462T>C) c.908T>C (p.Leu303Pro) c.527T>C (p.Leu176Pro) c.124-10462T>C (n.124-10462T>C) | ClinVar dbSNP |
| 11 | g.2572973T>G | CA379131748 | KCNQ1 | c.647T>G (p.Leu216Arg) c.478-10462T>G (n.478-10462T>G) c.908T>G (p.Leu303Arg) c.527T>G (p.Leu176Arg) c.124-10462T>G (n.124-10462T>G) | |
| 11 | g.2572973T= | CA1948212348 | KCNQ1 | c.647T= (p.Leu216=) c.478-10462T= (n.478-10462T=) c.908T= (p.Leu303=) c.527T= (p.Leu176=) c.124-10462T= (n.124-10462T=) | |
| 11 | g.2572974G>A | CA472038199 | KCNQ1 | c.648G>A (p.Leu216=) c.478-10461G>A (n.478-10461G>A) c.909G>A (p.Leu303=) c.528G>A (p.Leu176=) c.124-10461G>A (n.124-10461G>A) | ClinVar dbSNP |
| 11 | g.2572974G>C | CA472038200 | KCNQ1 | c.648G>C (p.Leu216=) c.478-10461G>C (n.478-10461G>C) c.909G>C (p.Leu303=) c.528G>C (p.Leu176=) c.124-10461G>C (n.124-10461G>C) | |
| 11 | g.2572974G= | CA1948212354 | KCNQ1 | c.648G= (p.Leu216=) c.478-10461G= (n.478-10461G=) c.909G= (p.Leu303=) c.528G= (p.Leu176=) c.124-10461G= (n.124-10461G=) | |
| 11 | g.2572974G>T | CA472038201 | KCNQ1 | c.648G>T (p.Leu216=) c.478-10461G>T (n.478-10461G>T) c.909G>T (p.Leu303=) c.528G>T (p.Leu176=) c.124-10461G>T (n.124-10461G>T) | |
| 11 | g.2572974dup | CA674975228 | KCNQ1 | c.648dup (p.Trp217ValfsTer?) c.478-10461dup (n.478-10461dup) c.909dup (p.Trp304ValfsTer?) c.528dup (p.Trp177ValfsTer?) c.124-10461dup (n.124-10461dup) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2572975T>A | CA379131751 | KCNQ1 | c.649T>A (p.Trp217Arg) c.478-10460T>A (n.478-10460T>A) c.910T>A (p.Trp304Arg) c.529T>A (p.Trp177Arg) c.124-10460T>A (n.124-10460T>A) | |
| 11 | g.2572975T>C | CA008598 | KCNQ1 | c.649T>C (p.Trp217Arg) c.478-10460T>C (n.478-10460T>C) c.910T>C (p.Trp304Arg) c.529T>C (p.Trp177Arg) c.124-10460T>C (n.124-10460T>C) | ClinVar dbSNP |
| 11 | g.2572975T>G | CA379131753 | KCNQ1 | c.649T>G (p.Trp217Gly) c.478-10460T>G (n.478-10460T>G) c.910T>G (p.Trp304Gly) c.529T>G (p.Trp177Gly) c.124-10460T>G (n.124-10460T>G) | |
| 11 | g.2572975T= | CA1948212374 | KCNQ1 | c.649T= (p.Trp217=) c.478-10460T= (n.478-10460T=) c.910T= (p.Trp304=) c.529T= (p.Trp177=) c.124-10460T= (n.124-10460T=) |