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.54626410C>A | CA370994044 | RP1 | c.2528C>A (p.Ala843Glu) c.787+4122C>A (n.787+4122C>A) c.2549C>A (p.Ala850Glu) | |
| 8 | g.54626410C>G | CA370994045 | RP1 | c.2528C>G (p.Ala843Gly) c.787+4122C>G (n.787+4122C>G) c.2549C>G (p.Ala850Gly) | |
| 8 | g.54626410C>T | CA370994046 | RP1 | c.2528C>T (p.Ala843Val) c.787+4122C>T (n.787+4122C>T) c.2549C>T (p.Ala850Val) | |
| 8 | g.54626411A= | CA1785188310 | RP1 | c.2529A= (p.Ala843=) c.787+4123A= (n.787+4123A=) c.2550A= (p.Ala850=) | |
| 8 | g.54626411A>C | CA4751556 | RP1 | c.2529A>C (p.Ala843=) c.787+4123A>C (n.787+4123A>C) c.2550A>C (p.Ala850=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626411A>G | CA461098937 | RP1 | c.2529A>G (p.Ala843=) c.787+4123A>G (n.787+4123A>G) c.2550A>G (p.Ala850=) | |
| 8 | g.54626411A>T | CA177237229 | RP1 | c.2529A>T (p.Ala843=) c.787+4123A>T (n.787+4123A>T) c.2550A>T (p.Ala850=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626412T>A | CA370994047 | RP1 | c.2530T>A (p.Ser844Thr) c.787+4124T>A (n.787+4124T>A) c.2551T>A (p.Ser851Thr) | |
| 8 | g.54626412T>C | CA370994048 | RP1 | c.2530T>C (p.Ser844Pro) c.787+4124T>C (n.787+4124T>C) c.2551T>C (p.Ser851Pro) | |
| 8 | g.54626412T>G | CA370994049 | RP1 | c.2530T>G (p.Ser844Ala) c.787+4124T>G (n.787+4124T>G) c.2551T>G (p.Ser851Ala) | |
| 8 | g.54626413C>A | CA370994050 | RP1 | c.2531C>A (p.Ser844Tyr) c.787+4125C>A (n.787+4125C>A) c.2552C>A (p.Ser851Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626413C= | CA1785188311 | RP1 | c.2531C= (p.Ser844=) c.787+4125C= (n.787+4125C=) c.2552C= (p.Ser851=) | |
| 8 | g.54626413C>G | CA370994051 | RP1 | c.2531C>G (p.Ser844Cys) c.787+4125C>G (n.787+4125C>G) c.2552C>G (p.Ser851Cys) | |
| 8 | g.54626413C>T | CA370994052 | RP1 | c.2531C>T (p.Ser844Phe) c.787+4125C>T (n.787+4125C>T) c.2552C>T (p.Ser851Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54626414T>A | CA461098938 | RP1 | c.2532T>A (p.Ser844=) c.787+4126T>A (n.787+4126T>A) c.2553T>A (p.Ser851=) | COSMIC |
| 8 | g.54626414T>C | CA461098940 | RP1 | c.2532T>C (p.Ser844=) c.787+4126T>C (n.787+4126T>C) c.2553T>C (p.Ser851=) | |
| 8 | g.54626414T>G | CA461098939 | RP1 | c.2532T>G (p.Ser844=) c.787+4126T>G (n.787+4126T>G) c.2553T>G (p.Ser851=) | |
| 8 | g.54626415G>A | CA370994053 | RP1 | c.2533G>A (p.Gly845Arg) c.787+4127G>A (n.787+4127G>A) c.2554G>A (p.Gly852Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626415G>C | CA370994054 | RP1 | c.2533G>C (p.Gly845Arg) c.787+4127G>C (n.787+4127G>C) c.2554G>C (p.Gly852Arg) | |
| 8 | g.54626415G= | CA1785188312 | RP1 | c.2533G= (p.Gly845=) c.787+4127G= (n.787+4127G=) c.2554G= (p.Gly852=) | |
| 8 | g.54626415G>T | CA370994055 | RP1 | c.2533G>T (p.Gly845Trp) c.787+4127G>T (n.787+4127G>T) c.2554G>T (p.Gly852Trp) | |
| 8 | g.54626416G>A | CA370994056 | RP1 | c.2534G>A (p.Gly845Glu) c.787+4128G>A (n.787+4128G>A) c.2555G>A (p.Gly852Glu) | |
| 8 | g.54626416G>C | CA370994058 | RP1 | c.2534G>C (p.Gly845Ala) c.787+4128G>C (n.787+4128G>C) c.2555G>C (p.Gly852Ala) | |
| 8 | g.54626416G>T | CA370994057 | RP1 | c.2534G>T (p.Gly845Val) c.787+4128G>T (n.787+4128G>T) c.2555G>T (p.Gly852Val) | |
| 8 | g.54626417G>A | CA461098941 | RP1 | c.2535G>A (p.Gly845=) c.787+4129G>A (n.787+4129G>A) c.2556G>A (p.Gly852=) | |
| 8 | g.54626417G>C | CA461098942 | RP1 | c.2535G>C (p.Gly845=) c.787+4129G>C (n.787+4129G>C) c.2556G>C (p.Gly852=) | |
| 8 | g.54626417G= | CA1785188313 | RP1 | c.2535G= (p.Gly845=) c.787+4129G= (n.787+4129G=) c.2556G= (p.Gly852=) | |
| 8 | g.54626417G>T | CA461098943 | RP1 | c.2535G>T (p.Gly845=) c.787+4129G>T (n.787+4129G>T) c.2556G>T (p.Gly852=) | dbSNP gnomAD v4 |
| 8 | g.54626418T>A | CA370994059 | RP1 | c.2536T>A (p.Tyr846Asn) c.787+4130T>A (n.787+4130T>A) c.2557T>A (p.Tyr853Asn) | |
| 8 | g.54626418T>C | CA370994060 | RP1 | c.2536T>C (p.Tyr846His) c.787+4130T>C (n.787+4130T>C) c.2557T>C (p.Tyr853His) | |
| 8 | g.54626418T>G | CA370994061 | RP1 | c.2536T>G (p.Tyr846Asp) c.787+4130T>G (n.787+4130T>G) c.2557T>G (p.Tyr853Asp) | |
| 8 | g.54626419A>C | CA370994062 | RP1 | c.2537A>C (p.Tyr846Ser) c.787+4131A>C (n.787+4131A>C) c.2558A>C (p.Tyr853Ser) | |
| 8 | g.54626419A>G | CA370994063 | RP1 | c.2537A>G (p.Tyr846Cys) c.787+4131A>G (n.787+4131A>G) c.2558A>G (p.Tyr853Cys) | gnomAD v4 |
| 8 | g.54626419A>T | CA370994064 | RP1 | c.2537A>T (p.Tyr846Phe) c.787+4131A>T (n.787+4131A>T) c.2558A>T (p.Tyr853Phe) | gnomAD v4 |
| 8 | g.54626420T>A | CA370994065 | RP1 | c.2538T>A (p.Tyr846Ter) c.787+4132T>A (n.787+4132T>A) c.2559T>A (p.Tyr853Ter) | |
| 8 | g.54626420T>C | CA461098944 | RP1 | c.2538T>C (p.Tyr846=) c.787+4132T>C (n.787+4132T>C) c.2559T>C (p.Tyr853=) | gnomAD v4 |
| 8 | g.54626420T>G | CA370994066 | RP1 | c.2538T>G (p.Tyr846Ter) c.787+4132T>G (n.787+4132T>G) c.2559T>G (p.Tyr853Ter) | |
| 8 | g.54626421T>A | CA370994067 | RP1 | c.2539T>A (p.Leu847Met) c.787+4133T>A (n.787+4133T>A) c.2560T>A (p.Leu854Met) | |
| 8 | g.54626421T>C | CA461098945 | RP1 | c.2539T>C (p.Leu847=) c.787+4133T>C (n.787+4133T>C) c.2560T>C (p.Leu854=) | |
| 8 | g.54626421T>G | CA370994068 | RP1 | c.2539T>G (p.Leu847Val) c.787+4133T>G (n.787+4133T>G) c.2560T>G (p.Leu854Val) | |
| 8 | g.54626422T>A | CA370994071 | RP1 | c.2540T>A (p.Leu847Ter) c.787+4134T>A (n.787+4134T>A) c.2561T>A (p.Leu854Ter) | |
| 8 | g.54626422T>C | CA370994070 | RP1 | c.2540T>C (p.Leu847Ser) c.787+4134T>C (n.787+4134T>C) c.2561T>C (p.Leu854Ser) | |
| 8 | g.54626422T>G | CA370994069 | RP1 | c.2540T>G (p.Leu847Trp) c.787+4134T>G (n.787+4134T>G) c.2561T>G (p.Leu854Trp) | gnomAD v4 |
| 8 | g.54626423G>A | CA461098946 | RP1 | c.2541G>A (p.Leu847=) c.787+4135G>A (n.787+4135G>A) c.2562G>A (p.Leu854=) | |
| 8 | g.54626423G>C | CA370994072 | RP1 | c.2541G>C (p.Leu847Phe) c.787+4135G>C (n.787+4135G>C) c.2562G>C (p.Leu854Phe) | COSMIC |
| 8 | g.54626423G>T | CA370994073 | RP1 | c.2541G>T (p.Leu847Phe) c.787+4135G>T (n.787+4135G>T) c.2562G>T (p.Leu854Phe) | |
| 8 | g.54626424A>C | CA461098947 | RP1 | c.2542A>C (p.Arg848=) c.787+4136A>C (n.787+4136A>C) c.2563A>C (p.Arg855=) | gnomAD v4 |
| 8 | g.54626424A>G | CA370994074 | RP1 | c.2542A>G (p.Arg848Gly) c.787+4136A>G (n.787+4136A>G) c.2563A>G (p.Arg855Gly) | |
| 8 | g.54626424A>T | CA370994075 | RP1 | c.2542A>T (p.Arg848Ter) c.787+4136A>T (n.787+4136A>T) c.2563A>T (p.Arg855Ter) | |
| 8 | g.54626425G>A | CA370994076 | RP1 | c.2543G>A (p.Arg848Lys) c.787+4137G>A (n.787+4137G>A) c.2564G>A (p.Arg855Lys) | ClinVar dbSNP gnomAD v4 COSMIC |