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.2570628_2570630del | CA2573053482 | KCNQ1 | c.217_219del c.478-12807_478-12805del (n.478-12807_478-12805del) c.478_480del c.97_99del c.124-12807_124-12805del (n.124-12807_124-12805del) | ClinVar dbSNP |
| 11 | g.2570629A= | CA1948239329 | KCNQ1 | c.218A= (p.Glu73=) c.478-12806A= (n.478-12806A=) c.479A= (p.Glu160=) c.98A= (p.Glu33=) c.124-12806A= (n.124-12806A=) | |
| 11 | g.2570629A>C | CA379129792 | KCNQ1 | c.218A>C (p.Glu73Ala) c.478-12806A>C (n.478-12806A>C) c.479A>C (p.Glu160Ala) c.98A>C (p.Glu33Ala) c.124-12806A>C (n.124-12806A>C) | |
| 11 | g.2570629A>G | CA379129793 | KCNQ1 | c.218A>G (p.Glu73Gly) c.478-12806A>G (n.478-12806A>G) c.479A>G (p.Glu160Gly) c.98A>G (p.Glu33Gly) c.124-12806A>G (n.124-12806A>G) | |
| 11 | g.2570629A>T | CA007216 | KCNQ1 | c.218A>T (p.Glu73Val) c.478-12806A>T (n.478-12806A>T) c.479A>T (p.Glu160Val) c.98A>T (p.Glu33Val) c.124-12806A>T (n.124-12806A>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570630G>A | CA472037738 | KCNQ1 | c.219G>A (p.Glu73=) c.478-12805G>A (n.478-12805G>A) c.480G>A (p.Glu160=) c.99G>A (p.Glu33=) c.124-12805G>A (n.124-12805G>A) | |
| 11 | g.2570630G>C | CA379129794 | KCNQ1 | c.219G>C (p.Glu73Asp) c.478-12805G>C (n.478-12805G>C) c.480G>C (p.Glu160Asp) c.99G>C (p.Glu33Asp) c.124-12805G>C (n.124-12805G>C) | |
| 11 | g.2570630G>T | CA379129795 | KCNQ1 | c.219G>T (p.Glu73Asp) c.478-12805G>T (n.478-12805G>T) c.480G>T (p.Glu160Asp) c.99G>T (p.Glu33Asp) c.124-12805G>T (n.124-12805G>T) | gnomAD v4 |
| 11 | g.2570631A>C | CA379129796 | KCNQ1 | c.220A>C (p.Ile74Leu) c.478-12804A>C (n.478-12804A>C) c.481A>C (p.Ile161Leu) c.100A>C (p.Ile34Leu) c.124-12804A>C (n.124-12804A>C) | |
| 11 | g.2570631A>G | CA379129797 | KCNQ1 | c.220A>G (p.Ile74Val) c.478-12804A>G (n.478-12804A>G) c.481A>G (p.Ile161Val) c.100A>G (p.Ile34Val) c.124-12804A>G (n.124-12804A>G) | |
| 11 | g.2570631A>T | CA379129798 | KCNQ1 | c.220A>T (p.Ile74Phe) c.478-12804A>T (n.478-12804A>T) c.481A>T (p.Ile161Phe) c.100A>T (p.Ile34Phe) c.124-12804A>T (n.124-12804A>T) | |
| 11 | g.2570632T>A | CA379129799 | KCNQ1 | c.221T>A (p.Ile74Asn) c.478-12803T>A (n.478-12803T>A) c.482T>A (p.Ile161Asn) c.101T>A (p.Ile34Asn) c.124-12803T>A (n.124-12803T>A) | |
| 11 | g.2570632T>C | CA379129800 | KCNQ1 | c.221T>C (p.Ile74Thr) c.478-12803T>C (n.478-12803T>C) c.482T>C (p.Ile161Thr) c.101T>C (p.Ile34Thr) c.124-12803T>C (n.124-12803T>C) | |
| 11 | g.2570632T>G | CA379129801 | KCNQ1 | c.221T>G (p.Ile74Ser) c.478-12803T>G (n.478-12803T>G) c.482T>G (p.Ile161Ser) c.101T>G (p.Ile34Ser) c.124-12803T>G (n.124-12803T>G) | |
| 11 | g.2570633C>A | CA037951 | KCNQ1 | c.222C>A (p.Ile74=) c.478-12802C>A (n.478-12802C>A) c.483C>A (p.Ile161=) c.102C>A (p.Ile34=) c.124-12802C>A (n.124-12802C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570633C= | CA1948239342 | KCNQ1 | c.222C= (p.Ile74=) c.478-12802C= (n.478-12802C=) c.483C= (p.Ile161=) c.102C= (p.Ile34=) c.124-12802C= (n.124-12802C=) | |
| 11 | g.2570633C>G | CA379129802 | KCNQ1 | c.222C>G (p.Ile74Met) c.478-12802C>G (n.478-12802C>G) c.483C>G (p.Ile161Met) c.102C>G (p.Ile34Met) c.124-12802C>G (n.124-12802C>G) | dbSNP |
| 11 | g.2570633C>T | CA037967 | KCNQ1 | c.222C>T (p.Ile74=) c.478-12802C>T (n.478-12802C>T) c.483C>T (p.Ile161=) c.102C>T (p.Ile34=) c.124-12802C>T (n.124-12802C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570634G>A | CA007224 | KCNQ1 | c.223G>A (p.Val75Met) c.478-12801G>A (n.478-12801G>A) c.484G>A (p.Val162Met) c.103G>A (p.Val35Met) c.124-12801G>A (n.124-12801G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570634G>C | CA379129803 | KCNQ1 | c.223G>C (p.Val75Leu) c.478-12801G>C (n.478-12801G>C) c.484G>C (p.Val162Leu) c.103G>C (p.Val35Leu) c.124-12801G>C (n.124-12801G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570634G= | CA1948239352 | KCNQ1 | c.223G= (p.Val75=) c.478-12801G= (n.478-12801G=) c.484G= (p.Val162=) c.103G= (p.Val35=) c.124-12801G= (n.124-12801G=) | |
| 11 | g.2570634G>T | CA379129804 | KCNQ1 | c.223G>T (p.Val75Leu) c.478-12801G>T (n.478-12801G>T) c.484G>T (p.Val162Leu) c.103G>T (p.Val35Leu) c.124-12801G>T (n.124-12801G>T) | gnomAD v4 |
| 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=) |