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 |
|---|---|---|---|---|---|
| 8 | g.54625720C>A | CA370991794 | RP1 | c.1838C>A (p.Thr613Asn) c.787+3432C>A (n.787+3432C>A) c.1859C>A (p.Thr620Asn) | |
| 8 | g.54625720C>G | CA370991795 | RP1 | c.1838C>G (p.Thr613Ser) c.787+3432C>G (n.787+3432C>G) c.1859C>G (p.Thr620Ser) | |
| 8 | g.54625720C>T | CA370991797 | RP1 | c.1838C>T (p.Thr613Ile) c.787+3432C>T (n.787+3432C>T) c.1859C>T (p.Thr620Ile) | gnomAD v4 |
| 8 | g.54625721C>A | CA461098554 | RP1 | c.1839C>A (p.Thr613=) c.787+3433C>A (n.787+3433C>A) c.1860C>A (p.Thr620=) | |
| 8 | g.54625721C>G | CA461098555 | RP1 | c.1839C>G (p.Thr613=) c.787+3433C>G (n.787+3433C>G) c.1860C>G (p.Thr620=) | |
| 8 | g.54625721C>T | CA461098556 | RP1 | c.1839C>T (p.Thr613=) c.787+3433C>T (n.787+3433C>T) c.1860C>T (p.Thr620=) | COSMIC |
| 8 | g.54625722C>A | CA370991799 | RP1 | c.1840C>A (p.His614Asn) c.787+3434C>A (n.787+3434C>A) c.1861C>A (p.His621Asn) | gnomAD v4 |
| 8 | g.54625722C>G | CA370991800 | RP1 | c.1840C>G (p.His614Asp) c.787+3434C>G (n.787+3434C>G) c.1861C>G (p.His621Asp) | |
| 8 | g.54625722C>T | CA370991801 | RP1 | c.1840C>T (p.His614Tyr) c.787+3434C>T (n.787+3434C>T) c.1861C>T (p.His621Tyr) | ClinVar gnomAD v4 |
| 8 | g.54625723A= | CA1785188006 | RP1 | c.1841A= (p.His614=) c.787+3435A= (n.787+3435A=) c.1862A= (p.His621=) | |
| 8 | g.54625723A>C | CA370991803 | RP1 | c.1841A>C (p.His614Pro) c.787+3435A>C (n.787+3435A>C) c.1862A>C (p.His621Pro) | |
| 8 | g.54625723A>G | CA4751438 | RP1 | c.1841A>G (p.His614Arg) c.787+3435A>G (n.787+3435A>G) c.1862A>G (p.His621Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625723A>T | CA370991805 | RP1 | c.1841A>T (p.His614Leu) c.787+3435A>T (n.787+3435A>T) c.1862A>T (p.His621Leu) | |
| 8 | g.54625724T>A | CA370992170 | RP1 | c.1842T>A (p.His614Gln) c.787+3436T>A (n.787+3436T>A) c.1863T>A (p.His621Gln) | |
| 8 | g.54625724T>C | CA461098417 | RP1 | c.1842T>C (p.His614=) c.787+3436T>C (n.787+3436T>C) c.1863T>C (p.His621=) | |
| 8 | g.54625724T>G | CA4751439 | RP1 | c.1842T>G (p.His614Gln) c.787+3436T>G (n.787+3436T>G) c.1863T>G (p.His621Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54625724T= | CA1785188007 | RP1 | c.1842T= (p.His614=) c.787+3436T= (n.787+3436T=) c.1863T= (p.His621=) | |
| 8 | g.54625728dup | CA2573143217 | RP1 | c.1846dup (p.Ser616PhefsTer3) c.787+3440dup (n.787+3440dup) c.1867dup (p.Ser623PhefsTer3) | ClinVar dbSNP |
| 8 | g.54625728del | CA461098416 | RP1 | c.1846del (p.Ser616GlnfsTer30) c.787+3440del (n.787+3440del) c.1867del (p.Ser623GlnfsTer30) | COSMIC |
| 8 | g.54625725T>A | CA370992171 | RP1 | c.1843T>A (p.Phe615Ile) c.787+3437T>A (n.787+3437T>A) c.1864T>A (p.Phe622Ile) | COSMIC |
| 8 | g.54625725T>C | CA370992172 | RP1 | c.1843T>C (p.Phe615Leu) c.787+3437T>C (n.787+3437T>C) c.1864T>C (p.Phe622Leu) | |
| 8 | g.54625725T>G | CA370992173 | RP1 | c.1843T>G (p.Phe615Val) c.787+3437T>G (n.787+3437T>G) c.1864T>G (p.Phe622Val) | |
| 8 | g.54625726T>A | CA370992174 | RP1 | c.1844T>A (p.Phe615Tyr) c.787+3438T>A (n.787+3438T>A) c.1865T>A (p.Phe622Tyr) | |
| 8 | g.54625726T>C | CA370992175 | RP1 | c.1844T>C (p.Phe615Ser) c.787+3438T>C (n.787+3438T>C) c.1865T>C (p.Phe622Ser) | |
| 8 | g.54625726T>G | CA370992176 | RP1 | c.1844T>G (p.Phe615Cys) c.787+3438T>G (n.787+3438T>G) c.1865T>G (p.Phe622Cys) | gnomAD v4 |
| 8 | g.54625727T>A | CA370992177 | RP1 | c.1845T>A (p.Phe615Leu) c.787+3439T>A (n.787+3439T>A) c.1866T>A (p.Phe622Leu) | |
| 8 | g.54625727T>C | CA177236883 | RP1 | c.1845T>C (p.Phe615=) c.787+3439T>C (n.787+3439T>C) c.1866T>C (p.Phe622=) | dbSNP gnomAD v4 |
| 8 | g.54625727T>G | CA370992178 | RP1 | c.1845T>G (p.Phe615Leu) c.787+3439T>G (n.787+3439T>G) c.1866T>G (p.Phe622Leu) | |
| 8 | g.54625727T= | CA1785188008 | RP1 | c.1845T= (p.Phe615=) c.787+3439T= (n.787+3439T=) c.1866T= (p.Phe622=) | |
| 8 | g.54625728T>A | CA370992179 | RP1 | c.1846T>A (p.Ser616Thr) c.787+3440T>A (n.787+3440T>A) c.1867T>A (p.Ser623Thr) | |
| 8 | g.54625728T>C | CA370992180 | RP1 | c.1846T>C (p.Ser616Pro) c.787+3440T>C (n.787+3440T>C) c.1867T>C (p.Ser623Pro) | |
| 8 | g.54625728T>G | CA370992181 | RP1 | c.1846T>G (p.Ser616Ala) c.787+3440T>G (n.787+3440T>G) c.1867T>G (p.Ser623Ala) | |
| 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) |