WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2571364T>A | CA379130543 | KCNQ1 | c.383T>A (p.Val128Glu) c.478-12071T>A (n.478-12071T>A) c.644T>A (p.Val215Glu) c.263T>A (p.Val88Glu) c.124-12071T>A (n.124-12071T>A) | |
| 11 | g.2571364T>C | CA379130545 | KCNQ1 | c.383T>C (p.Val128Ala) c.478-12071T>C (n.478-12071T>C) c.644T>C (p.Val215Ala) c.263T>C (p.Val88Ala) c.124-12071T>C (n.124-12071T>C) | |
| 11 | g.2571364T>G | CA039326 | KCNQ1 | c.383T>G (p.Val128Gly) c.478-12071T>G (n.478-12071T>G) c.644T>G (p.Val215Gly) c.263T>G (p.Val88Gly) c.124-12071T>G (n.124-12071T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2571364T= | CA1948241537 | KCNQ1 | c.383T= (p.Val128=) c.478-12071T= (n.478-12071T=) c.644T= (p.Val215=) c.263T= (p.Val88=) c.124-12071T= (n.124-12071T=) | |
| 11 | g.2571364_2571365delinsTG | CA1948241536 | KCNQ1 | c.383_384delinsTG (p.Val128=) c.478-12071_478-12070delinsTG (n.478-12071_478-12070delinsTG) c.644_645delinsTG (p.Val215=) c.263_264delinsTG (p.Val88=) c.124-12071_124-12070delinsTG (n.124-12071_124-12070delinsTG) | |
| 11 | g.2571365G>A | CA039347 | KCNQ1 | c.384G>A (p.Val128=) c.478-12070G>A (n.478-12070G>A) c.645G>A (p.Val215=) c.264G>A (p.Val88=) c.124-12070G>A (n.124-12070G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2571365G>C | CA472038012 | KCNQ1 | c.384G>C (p.Val128=) c.478-12070G>C (n.478-12070G>C) c.645G>C (p.Val215=) c.264G>C (p.Val88=) c.124-12070G>C (n.124-12070G>C) | |
| 11 | g.2571365G= | CA1948241544 | KCNQ1 | c.384G= (p.Val128=) c.478-12070G= (n.478-12070G=) c.645G= (p.Val215=) c.264G= (p.Val88=) c.124-12070G= (n.124-12070G=) | |
| 11 | g.2571365G>T | CA472038013 | KCNQ1 | c.384G>T (p.Val128=) c.478-12070G>T (n.478-12070G>T) c.645G>T (p.Val215=) c.264G>T (p.Val88=) c.124-12070G>T (n.124-12070G>T) | gnomAD v4 |
| 11 | g.2571367del | CA216310679 | KCNQ1 | c.386del (p.Gly129AlafsTer21) c.478-12068del (n.478-12068del) c.647del (p.Gly216AlafsTer21) c.266del (p.Gly89AlafsTer21) c.124-12068del (n.124-12068del) | ClinVar dbSNP |
| 11 | g.2571366_2571367del | CA2739291415 | KCNQ1 | c.385_386del (p.Gly129LeufsTer?) c.478-12069_478-12068del (n.478-12069_478-12068del) c.646_647del (p.Gly216LeufsTer?) c.265_266del (p.Gly89LeufsTer?) c.124-12069_124-12068del (n.124-12069_124-12068del) | |
| 11 | g.2571366G>A | CA379130553 | KCNQ1 | c.385G>A (p.Gly129Ser) c.478-12069G>A (n.478-12069G>A) c.646G>A (p.Gly216Ser) c.265G>A (p.Gly89Ser) c.124-12069G>A (n.124-12069G>A) | |
| 11 | g.2571366G>C | CA379130559 | KCNQ1 | c.385G>C (p.Gly129Arg) c.478-12069G>C (n.478-12069G>C) c.646G>C (p.Gly216Arg) c.265G>C (p.Gly89Arg) c.124-12069G>C (n.124-12069G>C) | |
| 11 | g.2571366G>T | CA379130556 | KCNQ1 | c.385G>T (p.Gly129Cys) c.478-12069G>T (n.478-12069G>T) c.646G>T (p.Gly216Cys) c.265G>T (p.Gly89Cys) c.124-12069G>T (n.124-12069G>T) | |
| 11 | g.2571367G>A | CA379130562 | KCNQ1 | c.386G>A (p.Gly129Asp) c.478-12068G>A (n.478-12068G>A) c.647G>A (p.Gly216Asp) c.266G>A (p.Gly89Asp) c.124-12068G>A (n.124-12068G>A) | gnomAD v4 |
| 11 | g.2571367G>C | CA379130565 | KCNQ1 | c.386G>C (p.Gly129Ala) c.478-12068G>C (n.478-12068G>C) c.647G>C (p.Gly216Ala) c.266G>C (p.Gly89Ala) c.124-12068G>C (n.124-12068G>C) | |
| 11 | g.2571367G>T | CA379130568 | KCNQ1 | c.386G>T (p.Gly129Val) c.478-12068G>T (n.478-12068G>T) c.647G>T (p.Gly216Val) c.266G>T (p.Gly89Val) c.124-12068G>T (n.124-12068G>T) | |
| 11 | g.2571368C>A | CA039362 | KCNQ1 | c.387C>A (p.Gly129=) c.478-12067C>A (n.478-12067C>A) c.648C>A (p.Gly216=) c.267C>A (p.Gly89=) c.124-12067C>A (n.124-12067C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2571368C= | CA1948241554 | KCNQ1 | c.387C= (p.Gly129=) c.478-12067C= (n.478-12067C=) c.648C= (p.Gly216=) c.267C= (p.Gly89=) c.124-12067C= (n.124-12067C=) | |
| 11 | g.2571368C>G | CA472038014 | KCNQ1 | c.387C>G (p.Gly129=) c.478-12067C>G (n.478-12067C>G) c.648C>G (p.Gly216=) c.267C>G (p.Gly89=) c.124-12067C>G (n.124-12067C>G) | |
| 11 | g.2571368C>T | CA472038015 | KCNQ1 | c.387C>T (p.Gly129=) c.478-12067C>T (n.478-12067C>T) c.648C>T (p.Gly216=) c.267C>T (p.Gly89=) c.124-12067C>T (n.124-12067C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2571369T>A | CA379130573 | KCNQ1 | c.388T>A (p.Ser130Thr) c.478-12066T>A (n.478-12066T>A) c.649T>A (p.Ser217Thr) c.268T>A (p.Ser90Thr) c.124-12066T>A (n.124-12066T>A) | |
| 11 | g.2571369T>C | CA379130577 | KCNQ1 | c.388T>C (p.Ser130Pro) c.478-12066T>C (n.478-12066T>C) c.649T>C (p.Ser217Pro) c.268T>C (p.Ser90Pro) c.124-12066T>C (n.124-12066T>C) | |
| 11 | g.2571369T>G | CA379130575 | KCNQ1 | c.388T>G (p.Ser130Ala) c.478-12066T>G (n.478-12066T>G) c.649T>G (p.Ser217Ala) c.268T>G (p.Ser90Ala) c.124-12066T>G (n.124-12066T>G) | |
| 11 | g.2571370C>A | CA379130582 | KCNQ1 | c.389C>A (p.Ser130Tyr) c.478-12065C>A (n.478-12065C>A) c.650C>A (p.Ser217Tyr) c.269C>A (p.Ser90Tyr) c.124-12065C>A (n.124-12065C>A) | |
| 11 | g.2571370C= | CA1948241563 | KCNQ1 | c.389C= (p.Ser130=) c.478-12065C= (n.478-12065C=) c.650C= (p.Ser217=) c.269C= (p.Ser90=) c.124-12065C= (n.124-12065C=) | |
| 11 | g.2571370C>G | CA379130585 | KCNQ1 | c.389C>G (p.Ser130Cys) c.478-12065C>G (n.478-12065C>G) c.650C>G (p.Ser217Cys) c.269C>G (p.Ser90Cys) c.124-12065C>G (n.124-12065C>G) | |
| 11 | g.2571370C>T | CA10638844 | KCNQ1 | c.389C>T (p.Ser130Phe) c.478-12065C>T (n.478-12065C>T) c.650C>T (p.Ser217Phe) c.269C>T (p.Ser90Phe) c.124-12065C>T (n.124-12065C>T) | ClinVar dbSNP |
| 11 | g.2571371C>A | CA472038016 | KCNQ1 | c.390C>A (p.Ser130=) c.478-12064C>A (n.478-12064C>A) c.651C>A (p.Ser217=) c.270C>A (p.Ser90=) c.124-12064C>A (n.124-12064C>A) | |
| 11 | g.2571371C>G | CA472038017 | KCNQ1 | c.390C>G (p.Ser130=) c.478-12064C>G (n.478-12064C>G) c.651C>G (p.Ser217=) c.270C>G (p.Ser90=) c.124-12064C>G (n.124-12064C>G) | |
| 11 | g.2571371C>T | CA472038018 | KCNQ1 | c.390C>T (p.Ser130=) c.478-12064C>T (n.478-12064C>T) c.651C>T (p.Ser217=) c.270C>T (p.Ser90=) c.124-12064C>T (n.124-12064C>T) | gnomAD v4 |
| 11 | g.2571372A= | CA1948241571 | KCNQ1 | c.391A= (p.Lys131=) c.478-12063A= (n.478-12063A=) c.652A= (p.Lys218=) c.271A= (p.Lys91=) c.124-12063A= (n.124-12063A=) | |
| 11 | g.2571372A>C | CA379130590 | KCNQ1 | c.391A>C (p.Lys131Gln) c.478-12063A>C (n.478-12063A>C) c.652A>C (p.Lys218Gln) c.271A>C (p.Lys91Gln) c.124-12063A>C (n.124-12063A>C) | |
| 11 | g.2571372A>G | CA007838 | KCNQ1 | c.391A>G (p.Lys131Glu) c.478-12063A>G (n.478-12063A>G) c.652A>G (p.Lys218Glu) c.271A>G (p.Lys91Glu) c.124-12063A>G (n.124-12063A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2571372A>T | CA379130593 | KCNQ1 | c.391A>T (p.Lys131Ter) c.478-12063A>T (n.478-12063A>T) c.652A>T (p.Lys218Ter) c.271A>T (p.Lys91Ter) c.124-12063A>T (n.124-12063A>T) | |
| 11 | g.2571373A= | CA1948241578 | KCNQ1 | c.392A= (p.Lys131=) c.478-12062A= (n.478-12062A=) c.653A= (p.Lys218=) c.272A= (p.Lys91=) c.124-12062A= (n.124-12062A=) | |
| 11 | g.2571373A>C | CA379130596 | KCNQ1 | c.392A>C (p.Lys131Thr) c.478-12062A>C (n.478-12062A>C) c.653A>C (p.Lys218Thr) c.272A>C (p.Lys91Thr) c.124-12062A>C (n.124-12062A>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2571373A>G | CA379130598 | KCNQ1 | c.392A>G (p.Lys131Arg) c.478-12062A>G (n.478-12062A>G) c.653A>G (p.Lys218Arg) c.272A>G (p.Lys91Arg) c.124-12062A>G (n.124-12062A>G) | ClinVar dbSNP |
| 11 | g.2571373A>T | CA379130600 | KCNQ1 | c.392A>T (p.Lys131Met) c.478-12062A>T (n.478-12062A>T) c.653A>T (p.Lys218Met) c.272A>T (p.Lys91Met) c.124-12062A>T (n.124-12062A>T) | |
| 11 | g.2571374G>A | CA472038019 | KCNQ1 | c.393G>A (p.Lys131=) c.478-12061G>A (n.478-12061G>A) c.654G>A (p.Lys218=) c.273G>A (p.Lys91=) c.124-12061G>A (n.124-12061G>A) | COSMIC COSMIC |
| 11 | g.2571374G>C | CA379130603 | KCNQ1 | c.393G>C (p.Lys131Asn) c.478-12061G>C (n.478-12061G>C) c.654G>C (p.Lys218Asn) c.273G>C (p.Lys91Asn) c.124-12061G>C (n.124-12061G>C) | |
| 11 | g.2571374G>T | CA379130604 | KCNQ1 | c.393G>T (p.Lys131Asn) c.478-12061G>T (n.478-12061G>T) c.654G>T (p.Lys218Asn) c.273G>T (p.Lys91Asn) c.124-12061G>T (n.124-12061G>T) | |
| 11 | g.2571377dup | CA658656104 | KCNQ1 | c.396dup (p.Gln133AlafsTer?) c.478-12058dup (n.478-12058dup) c.657dup (p.Gln220AlafsTer?) c.276dup (p.Gln93AlafsTer?) c.124-12058dup (n.124-12058dup) | ClinVar dbSNP |
| 11 | g.2571377del | CA2590551916 | KCNQ1 | c.396del (p.Gln133ArgfsTer17) c.478-12058del (n.478-12058del) c.657del (p.Gln220ArgfsTer17) c.276del (p.Gln93ArgfsTer17) c.124-12058del (n.124-12058del) | gnomAD v3 gnomAD v4 |
| 11 | g.2571375G>A | CA379130611 | KCNQ1 | c.394G>A (p.Gly132Arg) c.478-12060G>A (n.478-12060G>A) c.655G>A (p.Gly219Arg) c.274G>A (p.Gly92Arg) c.124-12060G>A (n.124-12060G>A) | gnomAD v4 COSMIC COSMIC |
| 11 | g.2571375G>C | CA379130610 | KCNQ1 | c.394G>C (p.Gly132Arg) c.478-12060G>C (n.478-12060G>C) c.655G>C (p.Gly219Arg) c.274G>C (p.Gly92Arg) c.124-12060G>C (n.124-12060G>C) | |
| 11 | g.2571375G>T | CA379130607 | KCNQ1 | c.394G>T (p.Gly132Trp) c.478-12060G>T (n.478-12060G>T) c.655G>T (p.Gly219Trp) c.274G>T (p.Gly92Trp) c.124-12060G>T (n.124-12060G>T) | |
| 11 | g.2571376G>A | CA039377 | KCNQ1 | c.395G>A (p.Gly132Glu) c.478-12059G>A (n.478-12059G>A) c.656G>A (p.Gly219Glu) c.275G>A (p.Gly92Glu) c.124-12059G>A (n.124-12059G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.2571376G>C | CA379130613 | KCNQ1 | c.395G>C (p.Gly132Ala) c.478-12059G>C (n.478-12059G>C) c.656G>C (p.Gly219Ala) c.275G>C (p.Gly92Ala) c.124-12059G>C (n.124-12059G>C) | COSMIC COSMIC |
| 11 | g.2571376G= | CA1948241585 | KCNQ1 | c.395G= (p.Gly132=) c.478-12059G= (n.478-12059G=) c.656G= (p.Gly219=) c.275G= (p.Gly92=) c.124-12059G= (n.124-12059G=) |