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.54625830G>A | CA370992399 | RP1 | c.1948G>A (p.Ala650Thr) c.787+3542G>A (n.787+3542G>A) c.1969G>A (p.Ala657Thr) | |
| 8 | g.54625830G>C | CA370992400 | RP1 | c.1948G>C (p.Ala650Pro) c.787+3542G>C (n.787+3542G>C) c.1969G>C (p.Ala657Pro) | |
| 8 | g.54625830G= | CA1785188040 | RP1 | c.1948G= (p.Ala650=) c.787+3542G= (n.787+3542G=) c.1969G= (p.Ala657=) | |
| 8 | g.54625830G>T | CA370992401 | RP1 | c.1948G>T (p.Ala650Ser) c.787+3542G>T (n.787+3542G>T) c.1969G>T (p.Ala657Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54625831C>A | CA370992404 | RP1 | c.1949C>A (p.Ala650Asp) c.787+3543C>A (n.787+3543C>A) c.1970C>A (p.Ala657Asp) | |
| 8 | g.54625831C= | CA1785188041 | RP1 | c.1949C= (p.Ala650=) c.787+3543C= (n.787+3543C=) c.1970C= (p.Ala657=) | |
| 8 | g.54625831C>G | CA370992403 | RP1 | c.1949C>G (p.Ala650Gly) c.787+3543C>G (n.787+3543C>G) c.1970C>G (p.Ala657Gly) | |
| 8 | g.54625831C>T | CA370992402 | RP1 | c.1949C>T (p.Ala650Val) c.787+3543C>T (n.787+3543C>T) c.1970C>T (p.Ala657Val) | dbSNP gnomAD v4 |
| 8 | g.54625832T>A | CA461098621 | RP1 | c.1950T>A (p.Ala650=) c.787+3544T>A (n.787+3544T>A) c.1971T>A (p.Ala657=) | |
| 8 | g.54625832T>C | CA461098623 | RP1 | c.1950T>C (p.Ala650=) c.787+3544T>C (n.787+3544T>C) c.1971T>C (p.Ala657=) | gnomAD v4 |
| 8 | g.54625832T>G | CA461098624 | RP1 | c.1950T>G (p.Ala650=) c.787+3544T>G (n.787+3544T>G) c.1971T>G (p.Ala657=) | |
| 8 | g.54625833C>A | CA370992405 | RP1 | c.1951C>A (p.Gln651Lys) c.787+3545C>A (n.787+3545C>A) c.1972C>A (p.Gln658Lys) | |
| 8 | g.54625833C>G | CA370992406 | RP1 | c.1951C>G (p.Gln651Glu) c.787+3545C>G (n.787+3545C>G) c.1972C>G (p.Gln658Glu) | |
| 8 | g.54625833C>T | CA370992407 | RP1 | c.1951C>T (p.Gln651Ter) c.787+3545C>T (n.787+3545C>T) c.1972C>T (p.Gln658Ter) | gnomAD v4 |
| 8 | g.54625833_54625849del | CA2780387002 | RP1 | c.1951_1967del (p.Gln651ThrfsTer5) c.787+3545_787+3561del (n.787+3545_787+3561del) c.1972_1988del (p.Gln658ThrfsTer5) | |
| 8 | g.54625834A>C | CA370992408 | RP1 | c.1952A>C (p.Gln651Pro) c.787+3546A>C (n.787+3546A>C) c.1973A>C (p.Gln658Pro) | |
| 8 | g.54625834A>G | CA370992409 | RP1 | c.1952A>G (p.Gln651Arg) c.787+3546A>G (n.787+3546A>G) c.1973A>G (p.Gln658Arg) | |
| 8 | g.54625834A>T | CA370992410 | RP1 | c.1952A>T (p.Gln651Leu) c.787+3546A>T (n.787+3546A>T) c.1973A>T (p.Gln658Leu) | |
| 8 | g.54625835G>A | CA4751450 | RP1 | c.1953G>A (p.Gln651=) c.787+3547G>A (n.787+3547G>A) c.1974G>A (p.Gln658=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625835G>C | CA370992411 | RP1 | c.1953G>C (p.Gln651His) c.787+3547G>C (n.787+3547G>C) c.1974G>C (p.Gln658His) | |
| 8 | g.54625835G= | CA1785188042 | RP1 | c.1953G= (p.Gln651=) c.787+3547G= (n.787+3547G=) c.1974G= (p.Gln658=) | |
| 8 | g.54625835G>T | CA370992412 | RP1 | c.1953G>T (p.Gln651His) c.787+3547G>T (n.787+3547G>T) c.1974G>T (p.Gln658His) | |
| 8 | g.54625836T>A | CA370992413 | RP1 | c.1954T>A (p.Cys652Ser) c.787+3548T>A (n.787+3548T>A) c.1975T>A (p.Cys659Ser) | |
| 8 | g.54625836T>C | CA4751451 | RP1 | c.1954T>C (p.Cys652Arg) c.787+3548T>C (n.787+3548T>C) c.1975T>C (p.Cys659Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625836T>G | CA370992414 | RP1 | c.1954T>G (p.Cys652Gly) c.787+3548T>G (n.787+3548T>G) c.1975T>G (p.Cys659Gly) | |
| 8 | g.54625836T= | CA1785188043 | RP1 | c.1954T= (p.Cys652=) c.787+3548T= (n.787+3548T=) c.1975T= (p.Cys659=) | |
| 8 | g.54625837G>A | CA370992417 | RP1 | c.1955G>A (p.Cys652Tyr) c.787+3549G>A (n.787+3549G>A) c.1976G>A (p.Cys659Tyr) | |
| 8 | g.54625837G>C | CA370992416 | RP1 | c.1955G>C (p.Cys652Ser) c.787+3549G>C (n.787+3549G>C) c.1976G>C (p.Cys659Ser) | |
| 8 | g.54625837G>T | CA370992415 | RP1 | c.1955G>T (p.Cys652Phe) c.787+3549G>T (n.787+3549G>T) c.1976G>T (p.Cys659Phe) | |
| 8 | g.54625838T>A | CA370992418 | RP1 | c.1956T>A (p.Cys652Ter) c.787+3550T>A (n.787+3550T>A) c.1977T>A (p.Cys659Ter) | |
| 8 | g.54625838T>C | CA461098634 | RP1 | c.1956T>C (p.Cys652=) c.787+3550T>C (n.787+3550T>C) c.1977T>C (p.Cys659=) | |
| 8 | g.54625838T>G | CA370992419 | RP1 | c.1956T>G (p.Cys652Trp) c.787+3550T>G (n.787+3550T>G) c.1977T>G (p.Cys659Trp) | |
| 8 | g.54625839G>A | CA4751452 | RP1 | c.1957G>A (p.Gly653Ser) c.787+3551G>A (n.787+3551G>A) c.1978G>A (p.Gly660Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625839G>C | CA370992420 | RP1 | c.1957G>C (p.Gly653Arg) c.787+3551G>C (n.787+3551G>C) c.1978G>C (p.Gly660Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54625839G= | CA1785188044 | RP1 | c.1957G= (p.Gly653=) c.787+3551G= (n.787+3551G=) c.1978G= (p.Gly660=) | |
| 8 | g.54625839G>T | CA370992421 | RP1 | c.1957G>T (p.Gly653Cys) c.787+3551G>T (n.787+3551G>T) c.1978G>T (p.Gly660Cys) | |
| 8 | g.54625840G>A | CA370992422 | RP1 | c.1958G>A (p.Gly653Asp) c.787+3552G>A (n.787+3552G>A) c.1979G>A (p.Gly660Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54625840G>C | CA370992423 | RP1 | c.1958G>C (p.Gly653Ala) c.787+3552G>C (n.787+3552G>C) c.1979G>C (p.Gly660Ala) | |
| 8 | g.54625840G= | CA1785188045 | RP1 | c.1958G= (p.Gly653=) c.787+3552G= (n.787+3552G=) c.1979G= (p.Gly660=) | |
| 8 | g.54625840G>T | CA370992424 | RP1 | c.1958G>T (p.Gly653Val) c.787+3552G>T (n.787+3552G>T) c.1979G>T (p.Gly660Val) | |
| 8 | g.54625840_54625841delinsGT | CA1785188046 | RP1 | c.1958_1959delinsGT (p.Gly653=) c.787+3552_787+3553delinsGT (n.787+3552_787+3553delinsGT) c.1979_1980delinsGT (p.Gly660=) | |
| 8 | g.54625841T>A | CA461098638 | RP1 | c.1959T>A (p.Gly653=) c.787+3553T>A (n.787+3553T>A) c.1980T>A (p.Gly660=) | |
| 8 | g.54625841T>C | CA461098639 | RP1 | c.1959T>C (p.Gly653=) c.787+3553T>C (n.787+3553T>C) c.1980T>C (p.Gly660=) | |
| 8 | g.54625841T>G | CA461098640 | RP1 | c.1959T>G (p.Gly653=) c.787+3553T>G (n.787+3553T>G) c.1980T>G (p.Gly660=) | |
| 8 | g.54625843del | CA370992425 | RP1 | c.1961del (p.Leu654Ter) c.787+3555del (n.787+3555del) c.1982del (p.Leu661Ter) | ClinVar dbSNP |
| 8 | g.54625842T>A | CA370992426 | RP1 | c.1960T>A (p.Leu654Ile) c.787+3554T>A (n.787+3554T>A) c.1981T>A (p.Leu661Ile) | |
| 8 | g.54625842T>C | CA461098643 | RP1 | c.1960T>C (p.Leu654=) c.787+3554T>C (n.787+3554T>C) c.1981T>C (p.Leu661=) | |
| 8 | g.54625842T>G | CA370992427 | RP1 | c.1960T>G (p.Leu654Val) c.787+3554T>G (n.787+3554T>G) c.1981T>G (p.Leu661Val) | |
| 8 | g.54625843T>A | CA370992428 | RP1 | c.1961T>A (p.Leu654Ter) c.787+3555T>A (n.787+3555T>A) c.1982T>A (p.Leu661Ter) | |
| 8 | g.54625843T>C | CA370992429 | RP1 | c.1961T>C (p.Leu654Ser) c.787+3555T>C (n.787+3555T>C) c.1982T>C (p.Leu661Ser) | gnomAD v4 |