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 |
|---|---|---|---|---|---|
| 8 | g.54625729C>A | CA370992182 | RP1 | c.1847C>A (p.Ser616Ter) c.787+3441C>A (n.787+3441C>A) c.1868C>A (p.Ser623Ter) | |
| 8 | g.54625729C>G | CA370992184 | RP1 | c.1847C>G (p.Ser616Ter) c.787+3441C>G (n.787+3441C>G) c.1868C>G (p.Ser623Ter) | |
| 8 | g.54625729C>T | CA370992183 | RP1 | c.1847C>T (p.Ser616Leu) c.787+3441C>T (n.787+3441C>T) c.1868C>T (p.Ser623Leu) | COSMIC |
| 8 | g.54625730A>C | CA461098431 | RP1 | c.1848A>C (p.Ser616=) c.787+3442A>C (n.787+3442A>C) c.1869A>C (p.Ser623=) | |
| 8 | g.54625730A>G | CA461098433 | RP1 | c.1848A>G (p.Ser616=) c.787+3442A>G (n.787+3442A>G) c.1869A>G (p.Ser623=) | |
| 8 | g.54625730A>T | CA461098434 | RP1 | c.1848A>T (p.Ser616=) c.787+3442A>T (n.787+3442A>T) c.1869A>T (p.Ser623=) | |
| 8 | g.54625731A>C | CA370992185 | RP1 | c.1849A>C (p.Ser617Arg) c.787+3443A>C (n.787+3443A>C) c.1870A>C (p.Ser624Arg) | |
| 8 | g.54625731A>G | CA370992186 | RP1 | c.1849A>G (p.Ser617Gly) c.787+3443A>G (n.787+3443A>G) c.1870A>G (p.Ser624Gly) | |
| 8 | g.54625731A>T | CA370992187 | RP1 | c.1849A>T (p.Ser617Cys) c.787+3443A>T (n.787+3443A>T) c.1870A>T (p.Ser624Cys) | |
| 8 | g.54625732G>A | CA370992188 | RP1 | c.1850G>A (p.Ser617Asn) c.787+3444G>A (n.787+3444G>A) c.1871G>A (p.Ser624Asn) | dbSNP |
| 8 | g.54625732G>C | CA370992189 | RP1 | c.1850G>C (p.Ser617Thr) c.787+3444G>C (n.787+3444G>C) c.1871G>C (p.Ser624Thr) | |
| 8 | g.54625732G= | CA1785188009 | RP1 | c.1850G= (p.Ser617=) c.787+3444G= (n.787+3444G=) c.1871G= (p.Ser624=) | |
| 8 | g.54625732G>T | CA370992190 | RP1 | c.1850G>T (p.Ser617Ile) c.787+3444G>T (n.787+3444G>T) c.1871G>T (p.Ser624Ile) | gnomAD v4 |
| 8 | g.54625733T>A | CA370992191 | RP1 | c.1851T>A (p.Ser617Arg) c.787+3445T>A (n.787+3445T>A) c.1872T>A (p.Ser624Arg) | |
| 8 | g.54625733T>C | CA461098438 | RP1 | c.1851T>C (p.Ser617=) c.787+3445T>C (n.787+3445T>C) c.1872T>C (p.Ser624=) | |
| 8 | g.54625733T>G | CA370992192 | RP1 | c.1851T>G (p.Ser617Arg) c.787+3445T>G (n.787+3445T>G) c.1872T>G (p.Ser624Arg) | dbSNP gnomAD v4 |
| 8 | g.54625733T= | CA1785188010 | RP1 | c.1851T= (p.Ser617=) c.787+3445T= (n.787+3445T=) c.1872T= (p.Ser624=) | |
| 8 | g.54625734A>C | CA370992193 | RP1 | c.1852A>C (p.Asn618His) c.787+3446A>C (n.787+3446A>C) c.1873A>C (p.Asn625His) | |
| 8 | g.54625734A>G | CA370992194 | RP1 | c.1852A>G (p.Asn618Asp) c.787+3446A>G (n.787+3446A>G) c.1873A>G (p.Asn625Asp) | |
| 8 | g.54625734A>T | CA370992195 | RP1 | c.1852A>T (p.Asn618Tyr) c.787+3446A>T (n.787+3446A>T) c.1873A>T (p.Asn625Tyr) | |
| 8 | g.54625735A>C | CA370992196 | RP1 | c.1853A>C (p.Asn618Thr) c.787+3447A>C (n.787+3447A>C) c.1874A>C (p.Asn625Thr) | |
| 8 | g.54625735A>G | CA370992197 | RP1 | c.1853A>G (p.Asn618Ser) c.787+3447A>G (n.787+3447A>G) c.1874A>G (p.Asn625Ser) | |
| 8 | g.54625735A>T | CA370992198 | RP1 | c.1853A>T (p.Asn618Ile) c.787+3447A>T (n.787+3447A>T) c.1874A>T (p.Asn625Ile) | |
| 8 | g.54625736T>A | CA370992200 | RP1 | c.1854T>A (p.Asn618Lys) c.787+3448T>A (n.787+3448T>A) c.1875T>A (p.Asn625Lys) | |
| 8 | g.54625736T>C | CA461098445 | RP1 | c.1854T>C (p.Asn618=) c.787+3448T>C (n.787+3448T>C) c.1875T>C (p.Asn625=) | |
| 8 | g.54625736T>G | CA370992199 | RP1 | c.1854T>G (p.Asn618Lys) c.787+3448T>G (n.787+3448T>G) c.1875T>G (p.Asn625Lys) | |
| 8 | g.54625737A>C | CA370992201 | RP1 | c.1855A>C (p.Asn619His) c.787+3449A>C (n.787+3449A>C) c.1876A>C (p.Asn626His) | |
| 8 | g.54625737A>G | CA370992202 | RP1 | c.1855A>G (p.Asn619Asp) c.787+3449A>G (n.787+3449A>G) c.1876A>G (p.Asn626Asp) | |
| 8 | g.54625737A>T | CA370992203 | RP1 | c.1855A>T (p.Asn619Tyr) c.787+3449A>T (n.787+3449A>T) c.1876A>T (p.Asn626Tyr) | |
| 8 | g.54625738A>C | CA370992204 | RP1 | c.1856A>C (p.Asn619Thr) c.787+3450A>C (n.787+3450A>C) c.1877A>C (p.Asn626Thr) | |
| 8 | g.54625738A>G | CA370992205 | RP1 | c.1856A>G (p.Asn619Ser) c.787+3450A>G (n.787+3450A>G) c.1877A>G (p.Asn626Ser) | |
| 8 | g.54625738A>T | CA370992206 | RP1 | c.1856A>T (p.Asn619Ile) c.787+3450A>T (n.787+3450A>T) c.1877A>T (p.Asn626Ile) | |
| 8 | g.54625739C>A | CA370992208 | RP1 | c.1857C>A (p.Asn619Lys) c.787+3451C>A (n.787+3451C>A) c.1878C>A (p.Asn626Lys) | |
| 8 | g.54625739C>G | CA370992207 | RP1 | c.1857C>G (p.Asn619Lys) c.787+3451C>G (n.787+3451C>G) c.1878C>G (p.Asn626Lys) | |
| 8 | g.54625739C>T | CA461098452 | RP1 | c.1857C>T (p.Asn619=) c.787+3451C>T (n.787+3451C>T) c.1878C>T (p.Asn626=) | |
| 8 | g.54625740T>A | CA370992209 | RP1 | c.1858T>A (p.Ser620Thr) c.787+3452T>A (n.787+3452T>A) c.1879T>A (p.Ser627Thr) | |
| 8 | g.54625740T>C | CA370992210 | RP1 | c.1858T>C (p.Ser620Pro) c.787+3452T>C (n.787+3452T>C) c.1879T>C (p.Ser627Pro) | |
| 8 | g.54625740T>G | CA370992211 | RP1 | c.1858T>G (p.Ser620Ala) c.787+3452T>G (n.787+3452T>G) c.1879T>G (p.Ser627Ala) | |
| 8 | g.54625741C>A | CA370992212 | RP1 | c.1859C>A (p.Ser620Tyr) c.787+3453C>A (n.787+3453C>A) c.1880C>A (p.Ser627Tyr) | |
| 8 | g.54625741C>G | CA370992213 | RP1 | c.1859C>G (p.Ser620Cys) c.787+3453C>G (n.787+3453C>G) c.1880C>G (p.Ser627Cys) | |
| 8 | g.54625741C>T | CA370992214 | RP1 | c.1859C>T (p.Ser620Phe) c.787+3453C>T (n.787+3453C>T) c.1880C>T (p.Ser627Phe) | |
| 8 | g.54625742T>A | CA461098463 | RP1 | c.1860T>A (p.Ser620=) c.787+3454T>A (n.787+3454T>A) c.1881T>A (p.Ser627=) | gnomAD v4 |
| 8 | g.54625742T>C | CA461098465 | RP1 | c.1860T>C (p.Ser620=) c.787+3454T>C (n.787+3454T>C) c.1881T>C (p.Ser627=) | |
| 8 | g.54625742T>G | CA461098466 | RP1 | c.1860T>G (p.Ser620=) c.787+3454T>G (n.787+3454T>G) c.1881T>G (p.Ser627=) | |
| 8 | g.54625743G>A | CA370992215 | RP1 | c.1861G>A (p.Gly621Arg) c.787+3455G>A (n.787+3455G>A) c.1882G>A (p.Gly628Arg) | COSMIC |
| 8 | g.54625743G>C | CA370992217 | RP1 | c.1861G>C (p.Gly621Arg) c.787+3455G>C (n.787+3455G>C) c.1882G>C (p.Gly628Arg) | |
| 8 | g.54625743G>T | CA370992216 | RP1 | c.1861G>T (p.Gly621Ter) c.787+3455G>T (n.787+3455G>T) c.1882G>T (p.Gly628Ter) | |
| 8 | g.54625744G>A | CA370992218 | RP1 | c.1862G>A (p.Gly621Glu) c.787+3456G>A (n.787+3456G>A) c.1883G>A (p.Gly628Glu) | |
| 8 | g.54625744G>C | CA370992219 | RP1 | c.1862G>C (p.Gly621Ala) c.787+3456G>C (n.787+3456G>C) c.1883G>C (p.Gly628Ala) | |
| 8 | g.54625744G>T | CA370992220 | RP1 | c.1862G>T (p.Gly621Val) c.787+3456G>T (n.787+3456G>T) c.1883G>T (p.Gly628Val) |