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 |
|---|---|---|---|---|---|
| 9 | g.123376849_123376855delinsCCTGCCG | CA1877946341 | CRB2 | c.3645_3651delinsCCTGCCG (p.Pro1215=) c.2649_2655delinsCCTGCCG (p.Pro883=) n.2759_2765delinsCCTGCCG c.3618_3624delinsCCTGCCG (p.Pro1206=) c.3450_3456delinsCCTGCCG (p.Pro1150=) | |
| 9 | g.123376850C>A | CA374869543 | CRB2 | c.3646C>A (p.Leu1216Met) c.2650C>A (p.Leu884Met) n.2760C>A c.3619C>A (p.Leu1207Met) c.3451C>A (p.Leu1151Met) | |
| 9 | g.123376850C>G | CA374869544 | CRB2 | c.3646C>G (p.Leu1216Val) c.2650C>G (p.Leu884Val) n.2760C>G c.3619C>G (p.Leu1207Val) c.3451C>G (p.Leu1151Val) | |
| 9 | g.123376850C>T | CA467089769 | CRB2 | c.3646C>T (p.Leu1216=) c.2650C>T (p.Leu884=) n.2760C>T c.3619C>T (p.Leu1207=) c.3451C>T (p.Leu1151=) | |
| 9 | g.123376855_123376860dup | CA1877946346 | CRB2 | c.3651_3656dup (p.Pro1219_Phe1220insLeuPro) c.2655_2660dup (p.Pro887_Phe888insLeuPro) n.2765_2770dup c.3624_3629dup (p.Pro1210_Phe1211insLeuPro) c.3456_3461dup (p.Pro1154_Phe1155insLeuPro) | dbSNP |
| 9 | g.123376855_123376860del | CA1128947739 | CRB2 | c.3651_3656del (p.Leu1218_Pro1219del) c.2655_2660del (p.Leu886_Pro887del) n.2765_2770del c.3624_3629del (p.Leu1209_Pro1210del) c.3456_3461del (p.Leu1153_Pro1154del) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376851T>A | CA374869545 | CRB2 | c.3647T>A (p.Leu1216Gln) c.2651T>A (p.Leu884Gln) n.2761T>A c.3620T>A (p.Leu1207Gln) c.3452T>A (p.Leu1151Gln) | |
| 9 | g.123376851T>C | CA374869546 | CRB2 | c.3647T>C (p.Leu1216Pro) c.2651T>C (p.Leu884Pro) n.2761T>C c.3620T>C (p.Leu1207Pro) c.3452T>C (p.Leu1151Pro) | |
| 9 | g.123376851T>G | CA5232579 | CRB2 | c.3647T>G (p.Leu1216Arg) c.2651T>G (p.Leu884Arg) n.2761T>G c.3620T>G (p.Leu1207Arg) c.3452T>G (p.Leu1151Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376851T= | CA1877946348 | CRB2 | c.3647T= (p.Leu1216=) c.2651T= (p.Leu884=) n.2761T= c.3620T= (p.Leu1207=) c.3452T= (p.Leu1151=) | |
| 9 | g.123376852G>A | CA467089779 | CRB2 | c.3648G>A (p.Leu1216=) c.2652G>A (p.Leu884=) n.2762G>A c.3621G>A (p.Leu1207=) c.3453G>A (p.Leu1151=) | gnomAD v4 |
| 9 | g.123376852G>C | CA467089784 | CRB2 | c.3648G>C (p.Leu1216=) c.2652G>C (p.Leu884=) n.2762G>C c.3621G>C (p.Leu1207=) c.3453G>C (p.Leu1151=) | |
| 9 | g.123376852G>T | CA467089780 | CRB2 | c.3648G>T (p.Leu1216=) c.2652G>T (p.Leu884=) n.2762G>T c.3621G>T (p.Leu1207=) c.3453G>T (p.Leu1151=) | |
| 9 | g.123376853C>A | CA374869547 | CRB2 | c.3649C>A (p.Pro1217Thr) c.2653C>A (p.Pro885Thr) n.2763C>A c.3622C>A (p.Pro1208Thr) c.3454C>A (p.Pro1152Thr) | gnomAD v4 |
| 9 | g.123376853C>G | CA374869548 | CRB2 | c.3649C>G (p.Pro1217Ala) c.2653C>G (p.Pro885Ala) n.2763C>G c.3622C>G (p.Pro1208Ala) c.3454C>G (p.Pro1152Ala) | |
| 9 | g.123376853C>T | CA374869549 | CRB2 | c.3649C>T (p.Pro1217Ser) c.2653C>T (p.Pro885Ser) n.2763C>T c.3622C>T (p.Pro1208Ser) c.3454C>T (p.Pro1152Ser) | |
| 9 | g.123376854C>A | CA374869551 | CRB2 | c.3650C>A (p.Pro1217Gln) c.2654C>A (p.Pro885Gln) n.2764C>A c.3623C>A (p.Pro1208Gln) c.3455C>A (p.Pro1152Gln) | gnomAD v4 |
| 9 | g.123376854C= | CA1877946351 | CRB2 | c.3650C= (p.Pro1217=) c.2654C= (p.Pro885=) n.2764C= c.3623C= (p.Pro1208=) c.3455C= (p.Pro1152=) | |
| 9 | g.123376854C>G | CA374869550 | CRB2 | c.3650C>G (p.Pro1217Arg) c.2654C>G (p.Pro885Arg) n.2764C>G c.3623C>G (p.Pro1208Arg) c.3455C>G (p.Pro1152Arg) | |
| 9 | g.123376854C>T | CA5232580 | CRB2 | c.3650C>T (p.Pro1217Leu) c.2654C>T (p.Pro885Leu) n.2764C>T c.3623C>T (p.Pro1208Leu) c.3455C>T (p.Pro1152Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376855G>A | CA5232581 | CRB2 | c.3651G>A (p.Pro1217=) c.2655G>A (p.Pro885=) n.2765G>A c.3624G>A (p.Pro1208=) c.3456G>A (p.Pro1152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376855G>C | CA467089806 | CRB2 | c.3651G>C (p.Pro1217=) c.2655G>C (p.Pro885=) n.2765G>C c.3624G>C (p.Pro1208=) c.3456G>C (p.Pro1152=) | |
| 9 | g.123376855G= | CA1877946355 | CRB2 | c.3651G= (p.Pro1217=) c.2655G= (p.Pro885=) n.2765G= c.3624G= (p.Pro1208=) c.3456G= (p.Pro1152=) | |
| 9 | g.123376855G>T | CA467089808 | CRB2 | c.3651G>T (p.Pro1217=) c.2655G>T (p.Pro885=) n.2765G>T c.3624G>T (p.Pro1208=) c.3456G>T (p.Pro1152=) | |
| 9 | g.123376856C>A | CA374869552 | CRB2 | c.3652C>A (p.Leu1218Met) c.2656C>A (p.Leu886Met) n.2766C>A c.3625C>A (p.Leu1209Met) c.3457C>A (p.Leu1153Met) | |
| 9 | g.123376856C>G | CA374869553 | CRB2 | c.3652C>G (p.Leu1218Val) c.2656C>G (p.Leu886Val) n.2766C>G c.3625C>G (p.Leu1209Val) c.3457C>G (p.Leu1153Val) | |
| 9 | g.123376856C>T | CA467089814 | CRB2 | c.3652C>T (p.Leu1218=) c.2656C>T (p.Leu886=) n.2766C>T c.3625C>T (p.Leu1209=) c.3457C>T (p.Leu1153=) | |
| 9 | g.123376857T>A | CA374869554 | CRB2 | c.3653T>A (p.Leu1218Gln) c.2657T>A (p.Leu886Gln) n.2767T>A c.3626T>A (p.Leu1209Gln) c.3458T>A (p.Leu1153Gln) | |
| 9 | g.123376857T>C | CA374869555 | CRB2 | c.3653T>C (p.Leu1218Pro) c.2657T>C (p.Leu886Pro) n.2767T>C c.3626T>C (p.Leu1209Pro) c.3458T>C (p.Leu1153Pro) | |
| 9 | g.123376857T>G | CA374869556 | CRB2 | c.3653T>G (p.Leu1218Arg) c.2657T>G (p.Leu886Arg) n.2767T>G c.3626T>G (p.Leu1209Arg) c.3458T>G (p.Leu1153Arg) | |
| 9 | g.123376858G>A | CA467089824 | CRB2 | c.3654G>A (p.Leu1218=) c.2658G>A (p.Leu886=) n.2768G>A c.3627G>A (p.Leu1209=) c.3459G>A (p.Leu1153=) | gnomAD v4 |
| 9 | g.123376858G>C | CA467089826 | CRB2 | c.3654G>C (p.Leu1218=) c.2658G>C (p.Leu886=) n.2768G>C c.3627G>C (p.Leu1209=) c.3459G>C (p.Leu1153=) | |
| 9 | g.123376858G>T | CA467089829 | CRB2 | c.3654G>T (p.Leu1218=) c.2658G>T (p.Leu886=) n.2768G>T c.3627G>T (p.Leu1209=) c.3459G>T (p.Leu1153=) | |
| 9 | g.123376859C>A | CA374869557 | CRB2 | c.3655C>A (p.Pro1219Thr) c.2659C>A (p.Pro887Thr) n.2769C>A c.3628C>A (p.Pro1210Thr) c.3460C>A (p.Pro1154Thr) | |
| 9 | g.123376859C>G | CA374869558 | CRB2 | c.3655C>G (p.Pro1219Ala) c.2659C>G (p.Pro887Ala) n.2769C>G c.3628C>G (p.Pro1210Ala) c.3460C>G (p.Pro1154Ala) | |
| 9 | g.123376859C>T | CA374869559 | CRB2 | c.3655C>T (p.Pro1219Ser) c.2659C>T (p.Pro887Ser) n.2769C>T c.3628C>T (p.Pro1210Ser) c.3460C>T (p.Pro1154Ser) | |
| 9 | g.123376860C>A | CA374869560 | CRB2 | c.3656C>A (p.Pro1219Gln) c.2660C>A (p.Pro887Gln) n.2770C>A c.3629C>A (p.Pro1210Gln) c.3461C>A (p.Pro1154Gln) | |
| 9 | g.123376860C>G | CA374869561 | CRB2 | c.3656C>G (p.Pro1219Arg) c.2660C>G (p.Pro887Arg) n.2770C>G c.3629C>G (p.Pro1210Arg) c.3461C>G (p.Pro1154Arg) | |
| 9 | g.123376860C>T | CA374869562 | CRB2 | c.3656C>T (p.Pro1219Leu) c.2660C>T (p.Pro887Leu) n.2770C>T c.3629C>T (p.Pro1210Leu) c.3461C>T (p.Pro1154Leu) | |
| 9 | g.123376861A= | CA1877946359 | CRB2 | c.3657A= (p.Pro1219=) c.2661A= (p.Pro887=) n.2771A= c.3630A= (p.Pro1210=) c.3462A= (p.Pro1154=) | |
| 9 | g.123376861A>C | CA467089842 | CRB2 | c.3657A>C (p.Pro1219=) c.2661A>C (p.Pro887=) n.2771A>C c.3630A>C (p.Pro1210=) c.3462A>C (p.Pro1154=) | |
| 9 | g.123376861A>G | CA199643020 | CRB2 | c.3657A>G (p.Pro1219=) c.2661A>G (p.Pro887=) n.2771A>G c.3630A>G (p.Pro1210=) c.3462A>G (p.Pro1154=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123376861A>T | CA467089846 | CRB2 | c.3657A>T (p.Pro1219=) c.2661A>T (p.Pro887=) n.2771A>T c.3630A>T (p.Pro1210=) c.3462A>T (p.Pro1154=) | |
| 9 | g.123376862T>A | CA374869565 | CRB2 | c.3658T>A (p.Phe1220Ile) c.2662T>A (p.Phe888Ile) n.2772T>A c.3631T>A (p.Phe1211Ile) c.3463T>A (p.Phe1155Ile) | |
| 9 | g.123376862T>C | CA374869564 | CRB2 | c.3658T>C (p.Phe1220Leu) c.2662T>C (p.Phe888Leu) n.2772T>C c.3631T>C (p.Phe1211Leu) c.3463T>C (p.Phe1155Leu) | |
| 9 | g.123376862T>G | CA374869563 | CRB2 | c.3658T>G (p.Phe1220Val) c.2662T>G (p.Phe888Val) n.2772T>G c.3631T>G (p.Phe1211Val) c.3463T>G (p.Phe1155Val) | gnomAD v4 |
| 9 | g.123376863T>A | CA374869566 | CRB2 | c.3659T>A (p.Phe1220Tyr) c.2663T>A (p.Phe888Tyr) n.2773T>A c.3632T>A (p.Phe1211Tyr) c.3464T>A (p.Phe1155Tyr) | |
| 9 | g.123376863T>C | CA374869567 | CRB2 | c.3659T>C (p.Phe1220Ser) c.2663T>C (p.Phe888Ser) n.2773T>C c.3632T>C (p.Phe1211Ser) c.3464T>C (p.Phe1155Ser) | |
| 9 | g.123376863T>G | CA374869568 | CRB2 | c.3659T>G (p.Phe1220Cys) c.2663T>G (p.Phe888Cys) n.2773T>G c.3632T>G (p.Phe1211Cys) c.3464T>G (p.Phe1155Cys) | |
| 9 | g.123376864C>A | CA374869569 | CRB2 | c.3660C>A (p.Phe1220Leu) c.2664C>A (p.Phe888Leu) n.2774C>A c.3633C>A (p.Phe1211Leu) c.3465C>A (p.Phe1155Leu) |