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.54626039_54626138del | CA2740095044 | RP1 | c.2157_2256del (p.Ser719ArgfsTer11) c.787+3751_787+3850del (n.787+3751_787+3850del) c.2178_2277del (p.Ser726ArgfsTer11) | ClinVar |
| 8 | g.54626069_54626071dup | CA2579168459 | RP1 | c.2187_2189dup (p.Glu729_Asp730insGlu) c.787+3781_787+3783dup (n.787+3781_787+3783dup) c.2208_2210dup (p.Glu736_Asp737insGlu) | gnomAD v4 |
| 8 | g.54626069A= | CA1785188147 | RP1 | c.2187A= (p.Glu729=) c.787+3781A= (n.787+3781A=) c.2208A= (p.Glu736=) | |
| 8 | g.54626069A>C | CA370992926 | RP1 | c.2187A>C (p.Glu729Asp) c.787+3781A>C (n.787+3781A>C) c.2208A>C (p.Glu736Asp) | |
| 8 | g.54626069A>G | CA461098709 | RP1 | c.2187A>G (p.Glu729=) c.787+3781A>G (n.787+3781A>G) c.2208A>G (p.Glu736=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626069A>T | CA370992927 | RP1 | c.2187A>T (p.Glu729Asp) c.787+3781A>T (n.787+3781A>T) c.2208A>T (p.Glu736Asp) | COSMIC |
| 8 | g.54626070G>A | CA370992928 | RP1 | c.2188G>A (p.Asp730Asn) c.787+3782G>A (n.787+3782G>A) c.2209G>A (p.Asp737Asn) | gnomAD v4 |
| 8 | g.54626070G>C | CA177237046 | RP1 | c.2188G>C (p.Asp730His) c.787+3782G>C (n.787+3782G>C) c.2209G>C (p.Asp737His) | dbSNP gnomAD v4 |
| 8 | g.54626070G= | CA1785188148 | RP1 | c.2188G= (p.Asp730=) c.787+3782G= (n.787+3782G=) c.2209G= (p.Asp737=) | |
| 8 | g.54626070G>T | CA370992929 | RP1 | c.2188G>T (p.Asp730Tyr) c.787+3782G>T (n.787+3782G>T) c.2209G>T (p.Asp737Tyr) | |
| 8 | g.54626071A>C | CA370992931 | RP1 | c.2189A>C (p.Asp730Ala) c.787+3783A>C (n.787+3783A>C) c.2210A>C (p.Asp737Ala) | |
| 8 | g.54626071A>G | CA370992932 | RP1 | c.2189A>G (p.Asp730Gly) c.787+3783A>G (n.787+3783A>G) c.2210A>G (p.Asp737Gly) | |
| 8 | g.54626071A>T | CA370992930 | RP1 | c.2189A>T (p.Asp730Val) c.787+3783A>T (n.787+3783A>T) c.2210A>T (p.Asp737Val) | |
| 8 | g.54626072C>A | CA370992934 | RP1 | c.2190C>A (p.Asp730Glu) c.787+3784C>A (n.787+3784C>A) c.2211C>A (p.Asp737Glu) | |
| 8 | g.54626072C>G | CA370992933 | RP1 | c.2190C>G (p.Asp730Glu) c.787+3784C>G (n.787+3784C>G) c.2211C>G (p.Asp737Glu) | |
| 8 | g.54626072C>T | CA461098713 | RP1 | c.2190C>T (p.Asp730=) c.787+3784C>T (n.787+3784C>T) c.2211C>T (p.Asp737=) | |
| 8 | g.54626073del | CA2687301830 | RP1 | c.2191del (p.Leu731SerfsTer7) c.787+3785del (n.787+3785del) c.2212del (p.Leu738SerfsTer7) | gnomAD v4 |
| 8 | g.54626073C>A | CA370992937 | RP1 | c.2191C>A (p.Leu731Ile) c.787+3785C>A (n.787+3785C>A) c.2212C>A (p.Leu738Ile) | |
| 8 | g.54626073C>G | CA370992935 | RP1 | c.2191C>G (p.Leu731Val) c.787+3785C>G (n.787+3785C>G) c.2212C>G (p.Leu738Val) | |
| 8 | g.54626073C>T | CA370992936 | RP1 | c.2191C>T (p.Leu731Phe) c.787+3785C>T (n.787+3785C>T) c.2212C>T (p.Leu738Phe) | |
| 8 | g.54626074T>A | CA370992938 | RP1 | c.2192T>A (p.Leu731His) c.787+3786T>A (n.787+3786T>A) c.2213T>A (p.Leu738His) | |
| 8 | g.54626074T>C | CA4751492 | RP1 | c.2192T>C (p.Leu731Pro) c.787+3786T>C (n.787+3786T>C) c.2213T>C (p.Leu738Pro) | dbSNP ExAC gnomAD v2 |
| 8 | g.54626074T>G | CA370992940 | RP1 | c.2192T>G (p.Leu731Arg) c.787+3786T>G (n.787+3786T>G) c.2213T>G (p.Leu738Arg) | |
| 8 | g.54626074T= | CA1785188149 | RP1 | c.2192T= (p.Leu731=) c.787+3786T= (n.787+3786T=) c.2213T= (p.Leu738=) | |
| 8 | g.54626075C>A | CA461098717 | RP1 | c.2193C>A (p.Leu731=) c.787+3787C>A (n.787+3787C>A) c.2214C>A (p.Leu738=) | |
| 8 | g.54626075C>G | CA461098719 | RP1 | c.2193C>G (p.Leu731=) c.787+3787C>G (n.787+3787C>G) c.2214C>G (p.Leu738=) | |
| 8 | g.54626075C>T | CA461098720 | RP1 | c.2193C>T (p.Leu731=) c.787+3787C>T (n.787+3787C>T) c.2214C>T (p.Leu738=) | |
| 8 | g.54626076C>A | CA370992941 | RP1 | c.2194C>A (p.Gln732Lys) c.787+3788C>A (n.787+3788C>A) c.2215C>A (p.Gln739Lys) | |
| 8 | g.54626076C>G | CA370992943 | RP1 | c.2194C>G (p.Gln732Glu) c.787+3788C>G (n.787+3788C>G) c.2215C>G (p.Gln739Glu) | |
| 8 | g.54626076C>T | CA370992944 | RP1 | c.2194C>T (p.Gln732Ter) c.787+3788C>T (n.787+3788C>T) c.2215C>T (p.Gln739Ter) | ClinVar dbSNP |
| 8 | g.54626077A>C | CA370992945 | RP1 | c.2195A>C (p.Gln732Pro) c.787+3789A>C (n.787+3789A>C) c.2216A>C (p.Gln739Pro) | |
| 8 | g.54626077A>G | CA370992946 | RP1 | c.2195A>G (p.Gln732Arg) c.787+3789A>G (n.787+3789A>G) c.2216A>G (p.Gln739Arg) | |
| 8 | g.54626077A>T | CA370992948 | RP1 | c.2195A>T (p.Gln732Leu) c.787+3789A>T (n.787+3789A>T) c.2216A>T (p.Gln739Leu) | |
| 8 | g.54626078G>A | CA461098722 | RP1 | c.2196G>A (p.Gln732=) c.787+3790G>A (n.787+3790G>A) c.2217G>A (p.Gln739=) | |
| 8 | g.54626078G>C | CA370992950 | RP1 | c.2196G>C (p.Gln732His) c.787+3790G>C (n.787+3790G>C) c.2217G>C (p.Gln739His) | |
| 8 | g.54626078G>T | CA370992951 | RP1 | c.2196G>T (p.Gln732His) c.787+3790G>T (n.787+3790G>T) c.2217G>T (p.Gln739His) | |
| 8 | g.54626078_54626079delinsGA | CA1785188150 | RP1 | c.2196_2197delinsGA (p.Gln732=) c.787+3790_787+3791delinsGA (n.787+3790_787+3791delinsGA) c.2217_2218delinsGA (p.Gln739=) | |
| 8 | g.54626079A= | CA1785188151 | RP1 | c.2197A= (p.Lys733=) c.787+3791A= (n.787+3791A=) c.2218A= (p.Lys740=) | |
| 8 | g.54626079A>C | CA370992952 | RP1 | c.2197A>C (p.Lys733Gln) c.787+3791A>C (n.787+3791A>C) c.2218A>C (p.Lys740Gln) | |
| 8 | g.54626079A>G | CA4751493 | RP1 | c.2197A>G (p.Lys733Glu) c.787+3791A>G (n.787+3791A>G) c.2218A>G (p.Lys740Glu) | dbSNP ExAC gnomAD v4 |
| 8 | g.54626079A>T | CA370992954 | RP1 | c.2197A>T (p.Lys733Ter) c.787+3791A>T (n.787+3791A>T) c.2218A>T (p.Lys740Ter) | |
| 8 | g.54626082del | CA916082989 | RP1 | c.2200del (p.Ser734ValfsTer4) c.787+3794del (n.787+3794del) c.2221del (p.Ser741ValfsTer4) | ClinVar dbSNP |
| 8 | g.54626081_54626082del | CA2695209271 | RP1 | c.2199_2200del (p.Ser734Ter) c.787+3793_787+3794del (n.787+3793_787+3794del) c.2220_2221del (p.Ser741Ter) | |
| 8 | g.54626080A= | CA1785188152 | RP1 | c.2198A= (p.Lys733=) c.787+3792A= (n.787+3792A=) c.2219A= (p.Lys740=) | |
| 8 | g.54626080A>C | CA370992957 | RP1 | c.2198A>C (p.Lys733Thr) c.787+3792A>C (n.787+3792A>C) c.2219A>C (p.Lys740Thr) | dbSNP |
| 8 | g.54626080A>G | CA370992958 | RP1 | c.2198A>G (p.Lys733Arg) c.787+3792A>G (n.787+3792A>G) c.2219A>G (p.Lys740Arg) | dbSNP |
| 8 | g.54626080A>T | CA370992959 | RP1 | c.2198A>T (p.Lys733Ile) c.787+3792A>T (n.787+3792A>T) c.2219A>T (p.Lys740Ile) | |
| 8 | g.54626081A>C | CA370992960 | RP1 | c.2199A>C (p.Lys733Asn) c.787+3793A>C (n.787+3793A>C) c.2220A>C (p.Lys740Asn) | |
| 8 | g.54626081A>G | CA461098726 | RP1 | c.2199A>G (p.Lys733=) c.787+3793A>G (n.787+3793A>G) c.2220A>G (p.Lys740=) | |
| 8 | g.54626081A>T | CA370992962 | RP1 | c.2199A>T (p.Lys733Asn) c.787+3793A>T (n.787+3793A>T) c.2220A>T (p.Lys740Asn) |