UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar |
| 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=) | |
| 11 | g.2572976G>A | CA379131756 | KCNQ1 | c.650G>A (p.Trp217Ter) c.478-10459G>A (n.478-10459G>A) c.911G>A (p.Trp304Ter) c.530G>A (p.Trp177Ter) c.124-10459G>A (n.124-10459G>A) | ClinVar |
| 11 | g.2572976G>C | CA379131758 | KCNQ1 | c.650G>C (p.Trp217Ser) c.478-10459G>C (n.478-10459G>C) c.911G>C (p.Trp304Ser) c.530G>C (p.Trp177Ser) c.124-10459G>C (n.124-10459G>C) | ClinVar dbSNP |
| 11 | g.2572976G>T | CA379131760 | KCNQ1 | c.650G>T (p.Trp217Leu) c.478-10459G>T (n.478-10459G>T) c.911G>T (p.Trp304Leu) c.530G>T (p.Trp177Leu) c.124-10459G>T (n.124-10459G>T) | ClinVar |
| 11 | g.2572978_2572981dup | CA2573146076 | KCNQ1 | c.652_655dup (p.Gly219ValfsTer?) c.478-10457_478-10454dup (n.478-10457_478-10454dup) c.913_916dup (p.Gly306ValfsTer?) c.532_535dup (p.Gly179ValfsTer?) c.124-10457_124-10454dup (n.124-10457_124-10454dup) | ClinVar dbSNP |
| 11 | g.2572977G>A | CA379131762 | KCNQ1 | c.651G>A (p.Trp217Ter) c.478-10458G>A (n.478-10458G>A) c.912G>A (p.Trp304Ter) c.531G>A (p.Trp177Ter) c.124-10458G>A (n.124-10458G>A) | |
| 11 | g.2572977G>C | CA379131764 | KCNQ1 | c.651G>C (p.Trp217Cys) c.478-10458G>C (n.478-10458G>C) c.912G>C (p.Trp304Cys) c.531G>C (p.Trp177Cys) c.124-10458G>C (n.124-10458G>C) | |
| 11 | g.2572977G>T | CA379131763 | KCNQ1 | c.651G>T (p.Trp217Cys) c.478-10458G>T (n.478-10458G>T) c.912G>T (p.Trp304Cys) c.531G>T (p.Trp177Cys) c.124-10458G>T (n.124-10458G>T) | |
| 11 | g.2572978del | CA2612004140 | KCNQ1 | c.652del (p.Trp218GlyfsTer?) c.478-10457del (n.478-10457del) c.913del (p.Trp305GlyfsTer?) c.532del (p.Trp178GlyfsTer?) c.124-10457del (n.124-10457del) | gnomAD v4 |
| 11 | g.2572978T>A | CA379131765 | KCNQ1 | c.652T>A (p.Trp218Arg) c.478-10457T>A (n.478-10457T>A) c.913T>A (p.Trp305Arg) c.532T>A (p.Trp178Arg) c.124-10457T>A (n.124-10457T>A) | ClinVar |
| 11 | g.2572978T>C | CA008606 | KCNQ1 | c.652T>C (p.Trp218Arg) c.478-10457T>C (n.478-10457T>C) c.913T>C (p.Trp305Arg) c.532T>C (p.Trp178Arg) c.124-10457T>C (n.124-10457T>C) | ClinVar dbSNP |
| 11 | g.2572978T>G | CA379131766 | KCNQ1 | c.652T>G (p.Trp218Gly) c.478-10457T>G (n.478-10457T>G) c.913T>G (p.Trp305Gly) c.532T>G (p.Trp178Gly) c.124-10457T>G (n.124-10457T>G) | dbSNP |
| 11 | g.2572978T= | CA1948212383 | KCNQ1 | c.652T= (p.Trp218=) c.478-10457T= (n.478-10457T=) c.913T= (p.Trp305=) c.532T= (p.Trp178=) c.124-10457T= (n.124-10457T=) | |
| 11 | g.2572979G>A | CA008615 | KCNQ1 | c.653G>A (p.Trp218Ter) c.478-10456G>A (n.478-10456G>A) c.914G>A (p.Trp305Ter) c.533G>A (p.Trp178Ter) c.124-10456G>A (n.124-10456G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572979G>C | CA008623 | KCNQ1 | c.653G>C (p.Trp218Ser) c.478-10456G>C (n.478-10456G>C) c.914G>C (p.Trp305Ser) c.533G>C (p.Trp178Ser) c.124-10456G>C (n.124-10456G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572979G= | CA1948212397 | KCNQ1 | c.653G= (p.Trp218=) c.478-10456G= (n.478-10456G=) c.914G= (p.Trp305=) c.533G= (p.Trp178=) c.124-10456G= (n.124-10456G=) | |
| 11 | g.2572979G>T | CA008627 | KCNQ1 | c.653G>T (p.Trp218Leu) c.478-10456G>T (n.478-10456G>T) c.914G>T (p.Trp305Leu) c.533G>T (p.Trp178Leu) c.124-10456G>T (n.124-10456G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572984del | CA913188343 | KCNQ1 | c.658del (p.Val220TrpfsTer?) c.478-10451del (n.478-10451del) c.919del (p.Val307TrpfsTer?) c.538del (p.Val180TrpfsTer?) c.124-10451del (n.124-10451del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572983_2572984del | CA2612004141 | KCNQ1 | c.657_658del (p.Val220GlyfsTer?) c.478-10452_478-10451del (n.478-10452_478-10451del) c.918_919del (p.Val307GlyfsTer?) c.537_538del (p.Val180GlyfsTer?) c.124-10452_124-10451del (n.124-10452_124-10451del) | gnomAD v4 |
| 11 | g.2572980G>A | CA379131772 | KCNQ1 | c.654G>A (p.Trp218Ter) c.478-10455G>A (n.478-10455G>A) c.915G>A (p.Trp305Ter) c.534G>A (p.Trp178Ter) c.124-10455G>A (n.124-10455G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572980G>C | CA379131774 | KCNQ1 | c.654G>C (p.Trp218Cys) c.478-10455G>C (n.478-10455G>C) c.915G>C (p.Trp305Cys) c.534G>C (p.Trp178Cys) c.124-10455G>C (n.124-10455G>C) | ClinVar |
| 11 | g.2572980G= | CA1948212419 | KCNQ1 | c.654G= (p.Trp218=) c.478-10455G= (n.478-10455G=) c.915G= (p.Trp305=) c.534G= (p.Trp178=) c.124-10455G= (n.124-10455G=) | |
| 11 | g.2572980G>T | CA379131775 | KCNQ1 | c.654G>T (p.Trp218Cys) c.478-10455G>T (n.478-10455G>T) c.915G>T (p.Trp305Cys) c.534G>T (p.Trp178Cys) c.124-10455G>T (n.124-10455G>T) | dbSNP |