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 |
|---|---|---|---|---|---|
| 13 | g.93830154_93830545del | CA212589 | GPC6,GPC6-AS2 | c.320_711del n.380+273_380+664del c.110_501del c.-47_345del | |
| 13 | g.93830534C>A | CA484761723 | GPC6,GPC6-AS2 | c.700C>A (p.Arg234=) n.380+282G>T c.490C>A (p.Arg164=) c.334C>A (p.Arg112=) | |
| 13 | g.93830534C= | CA2111541795 | GPC6,GPC6-AS2 | c.700C= (p.Arg234=) n.380+282G= c.490C= (p.Arg164=) c.334C= (p.Arg112=) | |
| 13 | g.93830534C>G | CA388465879 | GPC6,GPC6-AS2 | c.700C>G (p.Arg234Gly) n.380+282G>C c.490C>G (p.Arg164Gly) c.334C>G (p.Arg112Gly) | |
| 13 | g.93830534C>T | CA117584 | GPC6,GPC6-AS2 | c.700C>T (p.Arg234Ter) n.380+282G>A c.490C>T (p.Arg164Ter) c.334C>T (p.Arg112Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.93830535G>A | CA388465880 | GPC6,GPC6-AS2 | c.701G>A (p.Arg234Gln) n.380+281C>T c.491G>A (p.Arg164Gln) c.335G>A (p.Arg112Gln) | gnomAD v4 |
| 13 | g.93830535G>C | CA388465881 | GPC6,GPC6-AS2 | c.701G>C (p.Arg234Pro) n.380+281C>G c.491G>C (p.Arg164Pro) c.335G>C (p.Arg112Pro) | |
| 13 | g.93830535G>T | CA388465882 | GPC6,GPC6-AS2 | c.701G>T (p.Arg234Leu) n.380+281C>A c.491G>T (p.Arg164Leu) c.335G>T (p.Arg112Leu) | |
| 13 | g.93830536A= | CA2111541798 | GPC6,GPC6-AS2 | c.702A= (p.Arg234=) n.380+280T= c.492A= (p.Arg164=) c.336A= (p.Arg112=) | |
| 13 | g.93830536A>C | CA484761724 | GPC6,GPC6-AS2 | c.702A>C (p.Arg234=) n.380+280T>G c.492A>C (p.Arg164=) c.336A>C (p.Arg112=) | |
| 13 | g.93830536A>G | CA255001064 | GPC6,GPC6-AS2 | c.702A>G (p.Arg234=) n.380+280T>C c.492A>G (p.Arg164=) c.336A>G (p.Arg112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.93830536A>T | CA484761725 | GPC6,GPC6-AS2 | c.702A>T (p.Arg234=) n.380+280T>A c.492A>T (p.Arg164=) c.336A>T (p.Arg112=) | |
| 13 | g.93830537G>A | CA388465883 | GPC6,GPC6-AS2 | c.703G>A (p.Val235Ile) n.380+279C>T c.493G>A (p.Val165Ile) c.337G>A (p.Val113Ile) | |
| 13 | g.93830537G>C | CA388465885 | GPC6,GPC6-AS2 | c.703G>C (p.Val235Leu) n.380+279C>G c.493G>C (p.Val165Leu) c.337G>C (p.Val113Leu) | |
| 13 | g.93830537G>T | CA388465884 | GPC6,GPC6-AS2 | c.703G>T (p.Val235Phe) n.380+279C>A c.493G>T (p.Val165Phe) c.337G>T (p.Val113Phe) | |
| 13 | g.93830538T>A | CA388465886 | GPC6,GPC6-AS2 | c.704T>A (p.Val235Asp) n.380+278A>T c.494T>A (p.Val165Asp) c.338T>A (p.Val113Asp) | |
| 13 | g.93830538T>C | CA388465887 | GPC6,GPC6-AS2 | c.704T>C (p.Val235Ala) n.380+278A>G c.494T>C (p.Val165Ala) c.338T>C (p.Val113Ala) | |
| 13 | g.93830538T>G | CA388465888 | GPC6,GPC6-AS2 | c.704T>G (p.Val235Gly) n.380+278A>C c.494T>G (p.Val165Gly) c.338T>G (p.Val113Gly) | |
| 13 | g.93830539T>A | CA484761726 | GPC6,GPC6-AS2 | c.705T>A (p.Val235=) n.380+277A>T c.495T>A (p.Val165=) c.339T>A (p.Val113=) | |
| 13 | g.93830539T>C | CA484761727 | GPC6,GPC6-AS2 | c.705T>C (p.Val235=) n.380+277A>G c.495T>C (p.Val165=) c.339T>C (p.Val113=) | gnomAD v4 |
| 13 | g.93830539T>G | CA255001065 | GPC6,GPC6-AS2 | c.705T>G (p.Val235=) n.380+277A>C c.495T>G (p.Val165=) c.339T>G (p.Val113=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.93830539T= | CA2111541809 | GPC6,GPC6-AS2 | c.705T= (p.Val235=) n.380+277A= c.495T= (p.Val165=) c.339T= (p.Val113=) | |
| 13 | g.93830540T>A | CA388465891 | GPC6,GPC6-AS2 | c.706T>A (p.Ser236Thr) n.380+276A>T c.496T>A (p.Ser166Thr) c.340T>A (p.Ser114Thr) | |
| 13 | g.93830540T>C | CA388465889 | GPC6,GPC6-AS2 | c.706T>C (p.Ser236Pro) n.380+276A>G c.496T>C (p.Ser166Pro) c.340T>C (p.Ser114Pro) | |
| 13 | g.93830540T>G | CA388465890 | GPC6,GPC6-AS2 | c.706T>G (p.Ser236Ala) n.380+276A>C c.496T>G (p.Ser166Ala) c.340T>G (p.Ser114Ala) | gnomAD v4 |
| 13 | g.93830541C>A | CA388465892 | GPC6,GPC6-AS2 | c.707C>A (p.Ser236Tyr) n.380+275G>T c.497C>A (p.Ser166Tyr) c.341C>A (p.Ser114Tyr) | |
| 13 | g.93830541C= | CA2111541818 | GPC6,GPC6-AS2 | c.707C= (p.Ser236=) n.380+275G= c.497C= (p.Ser166=) c.341C= (p.Ser114=) | |
| 13 | g.93830541C>G | CA388465893 | GPC6,GPC6-AS2 | c.707C>G (p.Ser236Cys) n.380+275G>C c.497C>G (p.Ser166Cys) c.341C>G (p.Ser114Cys) | dbSNP |
| 13 | g.93830541C>T | CA388465894 | GPC6,GPC6-AS2 | c.707C>T (p.Ser236Phe) n.380+275G>A c.497C>T (p.Ser166Phe) c.341C>T (p.Ser114Phe) | |
| 13 | g.93830542C>A | CA484761730 | GPC6,GPC6-AS2 | c.708C>A (p.Ser236=) n.380+274G>T c.498C>A (p.Ser166=) c.342C>A (p.Ser114=) | |
| 13 | g.93830542C>G | CA484761732 | GPC6,GPC6-AS2 | c.708C>G (p.Ser236=) n.380+274G>C c.498C>G (p.Ser166=) c.342C>G (p.Ser114=) | |
| 13 | g.93830542C>T | CA484761731 | GPC6,GPC6-AS2 | c.708C>T (p.Ser236=) n.380+274G>A c.498C>T (p.Ser166=) c.342C>T (p.Ser114=) | |
| 13 | g.93830543A= | CA2111541824 | GPC6,GPC6-AS2 | c.709A= (p.Lys237=) n.380+273T= c.499A= (p.Lys167=) c.343A= (p.Lys115=) | |
| 13 | g.93830543A>C | CA388465895 | GPC6,GPC6-AS2 | c.709A>C (p.Lys237Gln) n.380+273T>G c.499A>C (p.Lys167Gln) c.343A>C (p.Lys115Gln) | dbSNP |
| 13 | g.93830543A>G | CA388465896 | GPC6,GPC6-AS2 | c.709A>G (p.Lys237Glu) n.380+273T>C c.499A>G (p.Lys167Glu) c.343A>G (p.Lys115Glu) | |
| 13 | g.93830543A>T | CA388465897 | GPC6,GPC6-AS2 | c.709A>T (p.Lys237Ter) n.380+273T>A c.499A>T (p.Lys167Ter) c.343A>T (p.Lys115Ter) | |
| 13 | g.93830544A= | CA2111541828 | GPC6,GPC6-AS2 | c.710A= (p.Lys237=) n.380+272T= c.500A= (p.Lys167=) c.344A= (p.Lys115=) | |
| 13 | g.93830544A>C | CA388465898 | GPC6,GPC6-AS2 | c.710A>C (p.Lys237Thr) n.380+272T>G c.500A>C (p.Lys167Thr) c.344A>C (p.Lys115Thr) | |
| 13 | g.93830544A>G | CA7016908 | GPC6,GPC6-AS2 | c.710A>G (p.Lys237Arg) n.380+272T>C c.500A>G (p.Lys167Arg) c.344A>G (p.Lys115Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.93830544A>T | CA388465899 | GPC6,GPC6-AS2 | c.710A>T (p.Lys237Met) n.380+272T>A c.500A>T (p.Lys167Met) c.344A>T (p.Lys115Met) | |
| 13 | g.93830545G>A | CA7016909 | GPC6,GPC6-AS2 | c.711G>A (p.Lys237=) n.380+271C>T c.501G>A (p.Lys167=) c.345G>A (p.Lys115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.93830545G>C | CA388465900 | GPC6,GPC6-AS2 | c.711G>C (p.Lys237Asn) n.380+271C>G c.501G>C (p.Lys167Asn) c.345G>C (p.Lys115Asn) | |
| 13 | g.93830545G= | CA2111541836 | GPC6,GPC6-AS2 | c.711G= (p.Lys237=) n.380+271C= c.501G= (p.Lys167=) c.345G= (p.Lys115=) | |
| 13 | g.93830545G>T | CA388465901 | GPC6,GPC6-AS2 | c.711G>T (p.Lys237Asn) n.380+271C>A c.501G>T (p.Lys167Asn) c.345G>T (p.Lys115Asn) | COSMIC |
| 13 | g.93830546G>A | CA388465904 | GPC6,GPC6-AS2 | c.711+1G>A (n.711+1G>A) n.380+270C>T c.501+1G>A (n.501+1G>A) c.345+1G>A (n.345+1G>A) | |
| 13 | g.93830546G>C | CA388465902 | GPC6,GPC6-AS2 | c.711+1G>C (n.711+1G>C) n.380+270C>G c.501+1G>C (n.501+1G>C) c.345+1G>C (n.345+1G>C) | |
| 13 | g.93830546G>T | CA388465903 | GPC6,GPC6-AS2 | c.711+1G>T (n.711+1G>T) n.380+270C>A c.501+1G>T (n.501+1G>T) c.345+1G>T (n.345+1G>T) | |
| 13 | g.93830547T>A | CA388465905 | GPC6,GPC6-AS2 | c.711+2T>A (n.711+2T>A) n.380+269A>T c.501+2T>A (n.501+2T>A) c.345+2T>A (n.345+2T>A) | |
| 13 | g.93830547T>C | CA388465906 | GPC6,GPC6-AS2 | c.711+2T>C (n.711+2T>C) n.380+269A>G c.501+2T>C (n.501+2T>C) c.345+2T>C (n.345+2T>C) | |
| 13 | g.93830547T>G | CA388465907 | GPC6,GPC6-AS2 | c.711+2T>G (n.711+2T>G) n.380+269A>C c.501+2T>G (n.501+2T>G) c.345+2T>G (n.345+2T>G) |