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.2570704_2570725del | CA2580082606 | KCNQ1 | c.293_314del (p.Val98AlafsTer?) c.478-12731_478-12710del (n.478-12731_478-12710del) c.554_575del (p.Val185AlafsTer?) c.173_194del (p.Val58AlafsTer?) c.124-12731_124-12710del (n.124-12731_124-12710del) | ClinVar |
| 11 | g.2570705_2570710del | CA2695213145 | KCNQ1 | c.294_299del (p.Gly99_Leu100del) c.478-12730_478-12725del (n.478-12730_478-12725del) c.555_560del (p.Gly186_Leu187del) c.174_179del (p.Gly59_Leu60del) c.124-12730_124-12725del (n.124-12730_124-12725del) | |
| 11 | g.2570706G>A | CA007432 | KCNQ1 | c.295G>A (p.Gly99Ser) c.478-12729G>A (n.478-12729G>A) c.556G>A (p.Gly186Ser) c.175G>A (p.Gly59Ser) c.124-12729G>A (n.124-12729G>A) | ClinVar dbSNP |
| 11 | g.2570706G>C | CA007440 | KCNQ1 | c.295G>C (p.Gly99Arg) c.478-12729G>C (n.478-12729G>C) c.556G>C (p.Gly186Arg) c.175G>C (p.Gly59Arg) c.124-12729G>C (n.124-12729G>C) | ClinVar dbSNP |
| 11 | g.2570706G= | CA1948239767 | KCNQ1 | c.295G= (p.Gly99=) c.478-12729G= (n.478-12729G=) c.556G= (p.Gly186=) c.175G= (p.Gly59=) c.124-12729G= (n.124-12729G=) | |
| 11 | g.2570706G>T | CA379129938 | KCNQ1 | c.295G>T (p.Gly99Cys) c.478-12729G>T (n.478-12729G>T) c.556G>T (p.Gly186Cys) c.175G>T (p.Gly59Cys) c.124-12729G>T (n.124-12729G>T) | ClinVar dbSNP |
| 11 | g.2570706_2570711del | CA2695213146 | KCNQ1 | c.295_300del (p.Gly99_Leu100del) c.478-12729_478-12724del (n.478-12729_478-12724del) c.556_561del (p.Gly186_Leu187del) c.175_180del (p.Gly59_Leu60del) c.124-12729_124-12724del (n.124-12729_124-12724del) | |
| 11 | g.2570707G>A | CA10575751 | KCNQ1 | c.296G>A (p.Gly99Asp) c.478-12728G>A (n.478-12728G>A) c.557G>A (p.Gly186Asp) c.176G>A (p.Gly59Asp) c.124-12728G>A (n.124-12728G>A) | ClinVar dbSNP |
| 11 | g.2570707G>C | CA379129939 | KCNQ1 | c.296G>C (p.Gly99Ala) c.478-12728G>C (n.478-12728G>C) c.557G>C (p.Gly186Ala) c.176G>C (p.Gly59Ala) c.124-12728G>C (n.124-12728G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570707G= | CA1948239776 | KCNQ1 | c.296G= (p.Gly99=) c.478-12728G= (n.478-12728G=) c.557G= (p.Gly186=) c.176G= (p.Gly59=) c.124-12728G= (n.124-12728G=) | |
| 11 | g.2570707G>T | CA007449 | KCNQ1 | c.296G>T (p.Gly99Val) c.478-12728G>T (n.478-12728G>T) c.557G>T (p.Gly186Val) c.176G>T (p.Gly59Val) c.124-12728G>T (n.124-12728G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570708C>A | CA038388 | KCNQ1 | c.297C>A (p.Gly99=) c.478-12727C>A (n.478-12727C>A) c.558C>A (p.Gly186=) c.177C>A (p.Gly59=) c.124-12727C>A (n.124-12727C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2570708C= | CA1948239783 | KCNQ1 | c.297C= (p.Gly99=) c.478-12727C= (n.478-12727C=) c.558C= (p.Gly186=) c.177C= (p.Gly59=) c.124-12727C= (n.124-12727C=) | |
| 11 | g.2570708C>G | CA472037858 | KCNQ1 | c.297C>G (p.Gly99=) c.478-12727C>G (n.478-12727C>G) c.558C>G (p.Gly186=) c.177C>G (p.Gly59=) c.124-12727C>G (n.124-12727C>G) | |
| 11 | g.2570708C>T | CA472037859 | KCNQ1 | c.297C>T (p.Gly99=) c.478-12727C>T (n.478-12727C>T) c.558C>T (p.Gly186=) c.177C>T (p.Gly59=) c.124-12727C>T (n.124-12727C>T) | |
| 11 | g.2570709C>A | CA379129940 | KCNQ1 | c.298C>A (p.Leu100Ile) c.478-12726C>A (n.478-12726C>A) c.559C>A (p.Leu187Ile) c.178C>A (p.Leu60Ile) c.124-12726C>A (n.124-12726C>A) | |
| 11 | g.2570709C= | CA1948239787 | KCNQ1 | c.298C= (p.Leu100=) c.478-12726C= (n.478-12726C=) c.559C= (p.Leu187=) c.178C= (p.Leu60=) c.124-12726C= (n.124-12726C=) | |
| 11 | g.2570709C>G | CA379129941 | KCNQ1 | c.298C>G (p.Leu100Val) c.478-12726C>G (n.478-12726C>G) c.559C>G (p.Leu187Val) c.178C>G (p.Leu60Val) c.124-12726C>G (n.124-12726C>G) | |
| 11 | g.2570709C>T | CA379129942 | KCNQ1 | c.298C>T (p.Leu100Phe) c.478-12726C>T (n.478-12726C>T) c.559C>T (p.Leu187Phe) c.178C>T (p.Leu60Phe) c.124-12726C>T (n.124-12726C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570710T>A | CA379129944 | KCNQ1 | c.299T>A (p.Leu100His) c.478-12725T>A (n.478-12725T>A) c.560T>A (p.Leu187His) c.179T>A (p.Leu60His) c.124-12725T>A (n.124-12725T>A) | |
| 11 | g.2570710T>C | CA007460 | KCNQ1 | c.299T>C (p.Leu100Pro) c.478-12725T>C (n.478-12725T>C) c.560T>C (p.Leu187Pro) c.179T>C (p.Leu60Pro) c.124-12725T>C (n.124-12725T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2570710T>G | CA379129943 | KCNQ1 | c.299T>G (p.Leu100Arg) c.478-12725T>G (n.478-12725T>G) c.560T>G (p.Leu187Arg) c.179T>G (p.Leu60Arg) c.124-12725T>G (n.124-12725T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570710T= | CA1948239792 | KCNQ1 | c.299T= (p.Leu100=) c.478-12725T= (n.478-12725T=) c.560T= (p.Leu187=) c.179T= (p.Leu60=) c.124-12725T= (n.124-12725T=) | |
| 11 | g.2570711C>A | CA472037862 | KCNQ1 | c.300C>A (p.Leu100=) c.478-12724C>A (n.478-12724C>A) c.561C>A (p.Leu187=) c.180C>A (p.Leu60=) c.124-12724C>A (n.124-12724C>A) | |
| 11 | g.2570711C>G | CA472037863 | KCNQ1 | c.300C>G (p.Leu100=) c.478-12724C>G (n.478-12724C>G) c.561C>G (p.Leu187=) c.180C>G (p.Leu60=) c.124-12724C>G (n.124-12724C>G) | |
| 11 | g.2570711C>T | CA472037864 | KCNQ1 | c.300C>T (p.Leu100=) c.478-12724C>T (n.478-12724C>T) c.561C>T (p.Leu187=) c.180C>T (p.Leu60=) c.124-12724C>T (n.124-12724C>T) | |
| 11 | g.2570711_2570712delinsCT | CA1948239796 | KCNQ1 | c.300_301delinsCT (p.Leu100=) c.478-12724_478-12723delinsCT (n.478-12724_478-12723delinsCT) c.561_562delinsCT (p.Leu187=) c.180_181delinsCT (p.Leu60=) c.124-12724_124-12723delinsCT (n.124-12724_124-12723delinsCT) | |
| 11 | g.2570712del | CA007472 | KCNQ1 | c.301del (p.Trp101GlyfsTer?) c.478-12723del (n.478-12723del) c.562del (p.Trp188GlyfsTer?) c.181del (p.Trp61GlyfsTer?) c.124-12723del (n.124-12723del) | ClinVar dbSNP |
| 11 | g.2570712T>A | CA379129945 | KCNQ1 | c.301T>A (p.Trp101Arg) c.478-12723T>A (n.478-12723T>A) c.562T>A (p.Trp188Arg) c.181T>A (p.Trp61Arg) c.124-12723T>A (n.124-12723T>A) | |
| 11 | g.2570712T>C | CA379129946 | KCNQ1 | c.301T>C (p.Trp101Arg) c.478-12723T>C (n.478-12723T>C) c.562T>C (p.Trp188Arg) c.181T>C (p.Trp61Arg) c.124-12723T>C (n.124-12723T>C) | ClinVar gnomAD v4 |
| 11 | g.2570712T>G | CA379129947 | KCNQ1 | c.301T>G (p.Trp101Gly) c.478-12723T>G (n.478-12723T>G) c.562T>G (p.Trp188Gly) c.181T>G (p.Trp61Gly) c.124-12723T>G (n.124-12723T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2570712T= | CA1948239800 | KCNQ1 | c.301T= (p.Trp101=) c.478-12723T= (n.478-12723T=) c.562T= (p.Trp188=) c.181T= (p.Trp61=) c.124-12723T= (n.124-12723T=) | |
| 11 | g.2570712_2570714delinsTGG | CA1948239798 | KCNQ1 | c.301_303delinsTGG (p.Trp101=) c.478-12723_478-12721delinsTGG (n.478-12723_478-12721delinsTGG) c.562_564delinsTGG (p.Trp188=) c.181_183delinsTGG (p.Trp61=) c.124-12723_124-12721delinsTGG (n.124-12723_124-12721delinsTGG) | |
| 11 | g.2570713G>A | CA379129948 | KCNQ1 | c.302G>A (p.Trp101Ter) c.478-12722G>A (n.478-12722G>A) c.563G>A (p.Trp188Ter) c.182G>A (p.Trp61Ter) c.124-12722G>A (n.124-12722G>A) | dbSNP |
| 11 | g.2570713G>C | CA379129949 | KCNQ1 | c.302G>C (p.Trp101Ser) c.478-12722G>C (n.478-12722G>C) c.563G>C (p.Trp188Ser) c.182G>C (p.Trp61Ser) c.124-12722G>C (n.124-12722G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2570713G= | CA1948239814 | KCNQ1 | c.302G= (p.Trp101=) c.478-12722G= (n.478-12722G=) c.563G= (p.Trp188=) c.182G= (p.Trp61=) c.124-12722G= (n.124-12722G=) | |
| 11 | g.2570713G>T | CA379129950 | KCNQ1 | c.302G>T (p.Trp101Leu) c.478-12722G>T (n.478-12722G>T) c.563G>T (p.Trp188Leu) c.182G>T (p.Trp61Leu) c.124-12722G>T (n.124-12722G>T) | |
| 11 | g.2570717dup | CA007508 | KCNQ1 | c.306dup (p.Arg103AlafsTer?) c.478-12718dup (n.478-12718dup) c.567dup (p.Arg190AlafsTer?) c.186dup (p.Arg63AlafsTer?) c.124-12718dup (n.124-12718dup) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570717del | CA2612002607 | KCNQ1 | c.306del (p.Arg103GlyfsTer?) c.478-12718del (n.478-12718del) c.567del (p.Arg190GlyfsTer?) c.186del (p.Arg63GlyfsTer?) c.124-12718del (n.124-12718del) | gnomAD v4 |
| 11 | g.2570716_2570717del | CA915947934 | KCNQ1 | c.305_306del (p.Gly102AlafsTer?) c.478-12719_478-12718del (n.478-12719_478-12718del) c.566_567del (p.Gly189AlafsTer?) c.185_186del (p.Gly62AlafsTer?) c.124-12719_124-12718del (n.124-12719_124-12718del) | ClinVar dbSNP |
| 11 | g.2570714G>A | CA10587720 | KCNQ1 | c.303G>A (p.Trp101Ter) c.478-12721G>A (n.478-12721G>A) c.564G>A (p.Trp188Ter) c.183G>A (p.Trp61Ter) c.124-12721G>A (n.124-12721G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570714G>C | CA038418 | KCNQ1 | c.303G>C (p.Trp101Cys) c.478-12721G>C (n.478-12721G>C) c.564G>C (p.Trp188Cys) c.183G>C (p.Trp61Cys) c.124-12721G>C (n.124-12721G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570714G= | CA1948239824 | KCNQ1 | c.303G= (p.Trp101=) c.478-12721G= (n.478-12721G=) c.564G= (p.Trp188=) c.183G= (p.Trp61=) c.124-12721G= (n.124-12721G=) | |
| 11 | g.2570714G>T | CA379129951 | KCNQ1 | c.303G>T (p.Trp101Cys) c.478-12721G>T (n.478-12721G>T) c.564G>T (p.Trp188Cys) c.183G>T (p.Trp61Cys) c.124-12721G>T (n.124-12721G>T) | |
| 11 | g.2570715G>A | CA007480 | KCNQ1 | c.304G>A (p.Gly102Arg) c.478-12720G>A (n.478-12720G>A) c.565G>A (p.Gly189Arg) c.184G>A (p.Gly62Arg) c.124-12720G>A (n.124-12720G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.2570715G>C | CA007488 | KCNQ1 | c.304G>C (p.Gly102Arg) c.478-12720G>C (n.478-12720G>C) c.565G>C (p.Gly189Arg) c.184G>C (p.Gly62Arg) c.124-12720G>C (n.124-12720G>C) | ClinVar dbSNP |
| 11 | g.2570715G= | CA1948239835 | KCNQ1 | c.304G= (p.Gly102=) c.478-12720G= (n.478-12720G=) c.565G= (p.Gly189=) c.184G= (p.Gly62=) c.124-12720G= (n.124-12720G=) | |
| 11 | g.2570715G>T | CA379129952 | KCNQ1 | c.304G>T (p.Gly102Trp) c.478-12720G>T (n.478-12720G>T) c.565G>T (p.Gly189Trp) c.184G>T (p.Gly62Trp) c.124-12720G>T (n.124-12720G>T) | |
| 11 | g.2570716G>A | CA007497 | KCNQ1 | c.305G>A (p.Gly102Glu) c.478-12719G>A (n.478-12719G>A) c.566G>A (p.Gly189Glu) c.185G>A (p.Gly62Glu) c.124-12719G>A (n.124-12719G>A) | ClinVar dbSNP |
| 11 | g.2570716G>C | CA379129954 | KCNQ1 | c.305G>C (p.Gly102Ala) c.478-12719G>C (n.478-12719G>C) c.566G>C (p.Gly189Ala) c.185G>C (p.Gly62Ala) c.124-12719G>C (n.124-12719G>C) | ClinVar |