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.54625820_54625823del | CA2687301828 | RP1 | c.1938_1941del (p.Ile646MetfsTer8) c.787+3532_787+3535del (n.787+3532_787+3535del) c.1959_1962del (p.Ile653MetfsTer8) | ClinVar gnomAD v4 |
| 8 | g.54625820T>A | CA461098609 | RP1 | c.1938T>A (p.Ile646=) c.787+3532T>A (n.787+3532T>A) c.1959T>A (p.Ile653=) | |
| 8 | g.54625820T>C | CA461098610 | RP1 | c.1938T>C (p.Ile646=) c.787+3532T>C (n.787+3532T>C) c.1959T>C (p.Ile653=) | |
| 8 | g.54625820T>G | CA370992375 | RP1 | c.1938T>G (p.Ile646Met) c.787+3532T>G (n.787+3532T>G) c.1959T>G (p.Ile653Met) | |
| 8 | g.54625821A>C | CA370992378 | RP1 | c.1939A>C (p.Asn647His) c.787+3533A>C (n.787+3533A>C) c.1960A>C (p.Asn654His) | |
| 8 | g.54625821A>G | CA370992376 | RP1 | c.1939A>G (p.Asn647Asp) c.787+3533A>G (n.787+3533A>G) c.1960A>G (p.Asn654Asp) | |
| 8 | g.54625821A>T | CA370992377 | RP1 | c.1939A>T (p.Asn647Tyr) c.787+3533A>T (n.787+3533A>T) c.1960A>T (p.Asn654Tyr) | |
| 8 | g.54625822A>C | CA370992379 | RP1 | c.1940A>C (p.Asn647Thr) c.787+3534A>C (n.787+3534A>C) c.1961A>C (p.Asn654Thr) | gnomAD v4 |
| 8 | g.54625822A>G | CA370992380 | RP1 | c.1940A>G (p.Asn647Ser) c.787+3534A>G (n.787+3534A>G) c.1961A>G (p.Asn654Ser) | |
| 8 | g.54625822A>T | CA370992381 | RP1 | c.1940A>T (p.Asn647Ile) c.787+3534A>T (n.787+3534A>T) c.1961A>T (p.Asn654Ile) | |
| 8 | g.54625823T>A | CA370992382 | RP1 | c.1941T>A (p.Asn647Lys) c.787+3535T>A (n.787+3535T>A) c.1962T>A (p.Asn654Lys) | |
| 8 | g.54625823T>C | CA461098612 | RP1 | c.1941T>C (p.Asn647=) c.787+3535T>C (n.787+3535T>C) c.1962T>C (p.Asn654=) | gnomAD v4 |
| 8 | g.54625823T>G | CA370992383 | RP1 | c.1941T>G (p.Asn647Lys) c.787+3535T>G (n.787+3535T>G) c.1962T>G (p.Asn654Lys) | |
| 8 | g.54625824G>A | CA370992384 | RP1 | c.1942G>A (p.Glu648Lys) c.787+3536G>A (n.787+3536G>A) c.1963G>A (p.Glu655Lys) | COSMIC |
| 8 | g.54625824G>C | CA370992385 | RP1 | c.1942G>C (p.Glu648Gln) c.787+3536G>C (n.787+3536G>C) c.1963G>C (p.Glu655Gln) | |
| 8 | g.54625824G>T | CA370992386 | RP1 | c.1942G>T (p.Glu648Ter) c.787+3536G>T (n.787+3536G>T) c.1963G>T (p.Glu655Ter) | |
| 8 | g.54625825A= | CA1785188039 | RP1 | c.1943A= (p.Glu648=) c.787+3537A= (n.787+3537A=) c.1964A= (p.Glu655=) | |
| 8 | g.54625825A>C | CA4751449 | RP1 | c.1943A>C (p.Glu648Ala) c.787+3537A>C (n.787+3537A>C) c.1964A>C (p.Glu655Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54625825A>G | CA370992387 | RP1 | c.1943A>G (p.Glu648Gly) c.787+3537A>G (n.787+3537A>G) c.1964A>G (p.Glu655Gly) | |
| 8 | g.54625825A>T | CA370992388 | RP1 | c.1943A>T (p.Glu648Val) c.787+3537A>T (n.787+3537A>T) c.1964A>T (p.Glu655Val) | gnomAD v4 |
| 8 | g.54625826A>C | CA370992389 | RP1 | c.1944A>C (p.Glu648Asp) c.787+3538A>C (n.787+3538A>C) c.1965A>C (p.Glu655Asp) | |
| 8 | g.54625826A>G | CA461098614 | RP1 | c.1944A>G (p.Glu648=) c.787+3538A>G (n.787+3538A>G) c.1965A>G (p.Glu655=) | |
| 8 | g.54625826A>T | CA370992390 | RP1 | c.1944A>T (p.Glu648Asp) c.787+3538A>T (n.787+3538A>T) c.1965A>T (p.Glu655Asp) | |
| 8 | g.54625827T>A | CA370992391 | RP1 | c.1945T>A (p.Phe649Ile) c.787+3539T>A (n.787+3539T>A) c.1966T>A (p.Phe656Ile) | |
| 8 | g.54625827T>C | CA370992392 | RP1 | c.1945T>C (p.Phe649Leu) c.787+3539T>C (n.787+3539T>C) c.1966T>C (p.Phe656Leu) | |
| 8 | g.54625827T>G | CA370992393 | RP1 | c.1945T>G (p.Phe649Val) c.787+3539T>G (n.787+3539T>G) c.1966T>G (p.Phe656Val) | |
| 8 | g.54625828T>A | CA370992394 | RP1 | c.1946T>A (p.Phe649Tyr) c.787+3540T>A (n.787+3540T>A) c.1967T>A (p.Phe656Tyr) | |
| 8 | g.54625828T>C | CA370992395 | RP1 | c.1946T>C (p.Phe649Ser) c.787+3540T>C (n.787+3540T>C) c.1967T>C (p.Phe656Ser) | |
| 8 | g.54625828T>G | CA370992396 | RP1 | c.1946T>G (p.Phe649Cys) c.787+3540T>G (n.787+3540T>G) c.1967T>G (p.Phe656Cys) | |
| 8 | g.54625829T>A | CA370992397 | RP1 | c.1947T>A (p.Phe649Leu) c.787+3541T>A (n.787+3541T>A) c.1968T>A (p.Phe656Leu) | |
| 8 | g.54625829T>C | CA461098617 | RP1 | c.1947T>C (p.Phe649=) c.787+3541T>C (n.787+3541T>C) c.1968T>C (p.Phe656=) | |
| 8 | g.54625829T>G | CA370992398 | RP1 | c.1947T>G (p.Phe649Leu) c.787+3541T>G (n.787+3541T>G) c.1968T>G (p.Phe656Leu) | |
| 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) |