| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 9 | g.123376864C= | CA1877946362 | CRB2 | c.3660C= (p.Phe1220=) c.2664C= (p.Phe888=) n.2774C= c.3633C= (p.Phe1211=) c.3465C= (p.Phe1155=) | |
| 9 | g.123376864C>G | CA374869570 | CRB2 | c.3660C>G (p.Phe1220Leu) c.2664C>G (p.Phe888Leu) n.2774C>G c.3633C>G (p.Phe1211Leu) c.3465C>G (p.Phe1155Leu) | dbSNP gnomAD v2 |
| 9 | g.123376864C>T | CA467089859 | CRB2 | c.3660C>T (p.Phe1220=) c.2664C>T (p.Phe888=) n.2774C>T c.3633C>T (p.Phe1211=) c.3465C>T (p.Phe1155=) | |
| 9 | g.123376865C>A | CA374869571 | CRB2 | c.3661C>A (p.Pro1221Thr) c.2665C>A (p.Pro889Thr) n.2775C>A c.3634C>A (p.Pro1212Thr) c.3466C>A (p.Pro1156Thr) | gnomAD v4 |
| 9 | g.123376865C>G | CA374869572 | CRB2 | c.3661C>G (p.Pro1221Ala) c.2665C>G (p.Pro889Ala) n.2775C>G c.3634C>G (p.Pro1212Ala) c.3466C>G (p.Pro1156Ala) | |
| 9 | g.123376865C>T | CA374869573 | CRB2 | c.3661C>T (p.Pro1221Ser) c.2665C>T (p.Pro889Ser) n.2775C>T c.3634C>T (p.Pro1212Ser) c.3466C>T (p.Pro1156Ser) | |
| 9 | g.123376866C>A | CA374869574 | CRB2 | c.3662C>A (p.Pro1221Gln) c.2666C>A (p.Pro889Gln) n.2776C>A c.3635C>A (p.Pro1212Gln) c.3467C>A (p.Pro1156Gln) | gnomAD v4 |
| 9 | g.123376866C= | CA1877946369 | CRB2 | c.3662C= (p.Pro1221=) c.2666C= (p.Pro889=) n.2776C= c.3635C= (p.Pro1212=) c.3467C= (p.Pro1156=) | |
| 9 | g.123376866C>G | CA374869575 | CRB2 | c.3662C>G (p.Pro1221Arg) c.2666C>G (p.Pro889Arg) n.2776C>G c.3635C>G (p.Pro1212Arg) c.3467C>G (p.Pro1156Arg) | gnomAD v4 |
| 9 | g.123376866C>T | CA5232582 | CRB2 | c.3662C>T (p.Pro1221Leu) c.2666C>T (p.Pro889Leu) n.2776C>T c.3635C>T (p.Pro1212Leu) c.3467C>T (p.Pro1156Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376867A>C | CA467089872 | CRB2 | c.3663A>C (p.Pro1221=) c.2667A>C (p.Pro889=) n.2777A>C c.3636A>C (p.Pro1212=) c.3468A>C (p.Pro1156=) | gnomAD v4 |
| 9 | g.123376867A>G | CA467089874 | CRB2 | c.3663A>G (p.Pro1221=) c.2667A>G (p.Pro889=) n.2777A>G c.3636A>G (p.Pro1212=) c.3468A>G (p.Pro1156=) | |
| 9 | g.123376867A>T | CA467089876 | CRB2 | c.3663A>T (p.Pro1221=) c.2667A>T (p.Pro889=) n.2777A>T c.3636A>T (p.Pro1212=) c.3468A>T (p.Pro1156=) | |
| 9 | g.123376868C>A | CA374869576 | CRB2 | c.3664C>A (p.Leu1222Met) c.2668C>A (p.Leu890Met) n.2778C>A c.3637C>A (p.Leu1213Met) c.3469C>A (p.Leu1157Met) | gnomAD v4 |
| 9 | g.123376868C= | CA1877946372 | CRB2 | c.3664C= (p.Leu1222=) c.2668C= (p.Leu890=) n.2778C= c.3637C= (p.Leu1213=) c.3469C= (p.Leu1157=) | |
| 9 | g.123376868C>G | CA374869577 | CRB2 | c.3664C>G (p.Leu1222Val) c.2668C>G (p.Leu890Val) n.2778C>G c.3637C>G (p.Leu1213Val) c.3469C>G (p.Leu1157Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376868C>T | CA467089881 | CRB2 | c.3664C>T (p.Leu1222=) c.2668C>T (p.Leu890=) n.2778C>T c.3637C>T (p.Leu1213=) c.3469C>T (p.Leu1157=) | |
| 9 | g.123376869T>A | CA374869578 | CRB2 | c.3665T>A (p.Leu1222Gln) c.2669T>A (p.Leu890Gln) n.2779T>A c.3638T>A (p.Leu1213Gln) c.3470T>A (p.Leu1157Gln) | |
| 9 | g.123376869T>C | CA5232583 | CRB2 | c.3665T>C (p.Leu1222Pro) c.2669T>C (p.Leu890Pro) n.2779T>C c.3638T>C (p.Leu1213Pro) c.3470T>C (p.Leu1157Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376869T>G | CA374869579 | CRB2 | c.3665T>G (p.Leu1222Arg) c.2669T>G (p.Leu890Arg) n.2779T>G c.3638T>G (p.Leu1213Arg) c.3470T>G (p.Leu1157Arg) | |
| 9 | g.123376869T= | CA1877946375 | CRB2 | c.3665T= (p.Leu1222=) c.2669T= (p.Leu890=) n.2779T= c.3638T= (p.Leu1213=) c.3470T= (p.Leu1157=) | |
| 9 | g.123376870G>A | CA467089893 | CRB2 | c.3666G>A (p.Leu1222=) c.2670G>A (p.Leu890=) n.2780G>A c.3639G>A (p.Leu1213=) c.3471G>A (p.Leu1157=) | gnomAD v4 |
| 9 | g.123376870G>C | CA467089895 | CRB2 | c.3666G>C (p.Leu1222=) c.2670G>C (p.Leu890=) n.2780G>C c.3639G>C (p.Leu1213=) c.3471G>C (p.Leu1157=) | |
| 9 | g.123376870G>T | CA467089898 | CRB2 | c.3666G>T (p.Leu1222=) c.2670G>T (p.Leu890=) n.2780G>T c.3639G>T (p.Leu1213=) c.3471G>T (p.Leu1157=) | gnomAD v4 |
| 9 | g.123376871C>A | CA374869580 | CRB2 | c.3667C>A (p.Leu1223Met) c.2671C>A (p.Leu891Met) n.2781C>A c.3640C>A (p.Leu1214Met) c.3472C>A (p.Leu1158Met) | gnomAD v4 |
| 9 | g.123376871C>G | CA374869581 | CRB2 | c.3667C>G (p.Leu1223Val) c.2671C>G (p.Leu891Val) n.2781C>G c.3640C>G (p.Leu1214Val) c.3472C>G (p.Leu1158Val) | |
| 9 | g.123376871C>T | CA467089905 | CRB2 | c.3667C>T (p.Leu1223=) c.2671C>T (p.Leu891=) n.2781C>T c.3640C>T (p.Leu1214=) c.3472C>T (p.Leu1158=) | gnomAD v4 |
| 9 | g.123376872T>A | CA374869582 | CRB2 | c.3668T>A (p.Leu1223Gln) c.2672T>A (p.Leu891Gln) n.2782T>A c.3641T>A (p.Leu1214Gln) c.3473T>A (p.Leu1158Gln) | |
| 9 | g.123376872T>C | CA374869583 | CRB2 | c.3668T>C (p.Leu1223Pro) c.2672T>C (p.Leu891Pro) n.2782T>C c.3641T>C (p.Leu1214Pro) c.3473T>C (p.Leu1158Pro) | |
| 9 | g.123376872T>G | CA374869584 | CRB2 | c.3668T>G (p.Leu1223Arg) c.2672T>G (p.Leu891Arg) n.2782T>G c.3641T>G (p.Leu1214Arg) c.3473T>G (p.Leu1158Arg) | |
| 9 | g.123376873G>A | CA467089920 | CRB2 | c.3669G>A (p.Leu1223=) c.2673G>A (p.Leu891=) n.2783G>A c.3642G>A (p.Leu1214=) c.3474G>A (p.Leu1158=) | |
| 9 | g.123376873G>C | CA467089918 | CRB2 | c.3669G>C (p.Leu1223=) c.2673G>C (p.Leu891=) n.2783G>C c.3642G>C (p.Leu1214=) c.3474G>C (p.Leu1158=) | |
| 9 | g.123376873G>T | CA467089915 | CRB2 | c.3669G>T (p.Leu1223=) c.2673G>T (p.Leu891=) n.2783G>T c.3642G>T (p.Leu1214=) c.3474G>T (p.Leu1158=) | |
| 9 | g.123376874G>A | CA374869585 | CRB2 | c.3670G>A (p.Glu1224Lys) c.2674G>A (p.Glu892Lys) n.2784G>A c.3643G>A (p.Glu1215Lys) c.3475G>A (p.Glu1159Lys) | |
| 9 | g.123376874G>C | CA374869586 | CRB2 | c.3670G>C (p.Glu1224Gln) c.2674G>C (p.Glu892Gln) n.2784G>C c.3643G>C (p.Glu1215Gln) c.3475G>C (p.Glu1159Gln) | gnomAD v4 |
| 9 | g.123376874G= | CA1877946379 | CRB2 | c.3670G= (p.Glu1224=) c.2674G= (p.Glu892=) n.2784G= c.3643G= (p.Glu1215=) c.3475G= (p.Glu1159=) | |
| 9 | g.123376874G>T | CA374869587 | CRB2 | c.3670G>T (p.Glu1224Ter) c.2674G>T (p.Glu892Ter) n.2784G>T c.3643G>T (p.Glu1215Ter) c.3475G>T (p.Glu1159Ter) | dbSNP gnomAD v2 |
| 9 | g.123376875A= | CA1877946382 | CRB2 | c.3671A= (p.Glu1224=) c.2675A= (p.Glu892=) n.2785A= c.3644A= (p.Glu1215=) c.3476A= (p.Glu1159=) | |
| 9 | g.123376875A>C | CA374869588 | CRB2 | c.3671A>C (p.Glu1224Ala) c.2675A>C (p.Glu892Ala) n.2785A>C c.3644A>C (p.Glu1215Ala) c.3476A>C (p.Glu1159Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376875A>G | CA374869589 | CRB2 | c.3671A>G (p.Glu1224Gly) c.2675A>G (p.Glu892Gly) n.2785A>G c.3644A>G (p.Glu1215Gly) c.3476A>G (p.Glu1159Gly) | dbSNP |
| 9 | g.123376875A>T | CA374869590 | CRB2 | c.3671A>T (p.Glu1224Val) c.2675A>T (p.Glu892Val) n.2785A>T c.3644A>T (p.Glu1215Val) c.3476A>T (p.Glu1159Val) | |
| 9 | g.123376876G>A | CA467089939 | CRB2 | c.3672G>A (p.Glu1224=) c.2676G>A (p.Glu892=) n.2786G>A c.3645G>A (p.Glu1215=) c.3477G>A (p.Glu1159=) | dbSNP |
| 9 | g.123376876G>C | CA374869592 | CRB2 | c.3672G>C (p.Glu1224Asp) c.2676G>C (p.Glu892Asp) n.2786G>C c.3645G>C (p.Glu1215Asp) c.3477G>C (p.Glu1159Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376876G= | CA1877946385 | CRB2 | c.3672G= (p.Glu1224=) c.2676G= (p.Glu892=) n.2786G= c.3645G= (p.Glu1215=) c.3477G= (p.Glu1159=) | |
| 9 | g.123376876G>T | CA374869591 | CRB2 | c.3672G>T (p.Glu1224Asp) c.2676G>T (p.Glu892Asp) n.2786G>T c.3645G>T (p.Glu1215Asp) c.3477G>T (p.Glu1159Asp) | |
| 9 | g.123376877G>A | CA374869593 | CRB2 | c.3673G>A (p.Val1225Met) c.2677G>A (p.Val893Met) n.2787G>A c.3646G>A (p.Val1216Met) c.3478G>A (p.Val1160Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376877G>C | CA374869595 | CRB2 | c.3673G>C (p.Val1225Leu) c.2677G>C (p.Val893Leu) n.2787G>C c.3646G>C (p.Val1216Leu) c.3478G>C (p.Val1160Leu) | |
| 9 | g.123376877G= | CA1877946389 | CRB2 | c.3673G= (p.Val1225=) c.2677G= (p.Val893=) n.2787G= c.3646G= (p.Val1216=) c.3478G= (p.Val1160=) | |
| 9 | g.123376877G>T | CA374869594 | CRB2 | c.3673G>T (p.Val1225Leu) c.2677G>T (p.Val893Leu) n.2787G>T c.3646G>T (p.Val1216Leu) c.3478G>T (p.Val1160Leu) | |
| 9 | g.123376878T>A | CA374869596 | CRB2 | c.3674T>A (p.Val1225Glu) c.2678T>A (p.Val893Glu) n.2788T>A c.3647T>A (p.Val1216Glu) c.3479T>A (p.Val1160Glu) | |
| 9 | g.123376878T>C | CA374869597 | CRB2 | c.3674T>C (p.Val1225Ala) c.2678T>C (p.Val893Ala) n.2788T>C c.3647T>C (p.Val1216Ala) c.3479T>C (p.Val1160Ala) | |
| 9 | g.123376878T>G | CA374869598 | CRB2 | c.3674T>G (p.Val1225Gly) c.2678T>G (p.Val893Gly) n.2788T>G c.3647T>G (p.Val1216Gly) c.3479T>G (p.Val1160Gly) | dbSNP |
| 9 | g.123376878T= | CA1877946393 | CRB2 | c.3674T= (p.Val1225=) c.2678T= (p.Val893=) n.2788T= c.3647T= (p.Val1216=) c.3479T= (p.Val1160=) | |
| 9 | g.123376879G>A | CA467089971 | CRB2 | c.3675G>A (p.Val1225=) c.2679G>A (p.Val893=) n.2789G>A c.3648G>A (p.Val1216=) c.3480G>A (p.Val1160=) | gnomAD v4 |
| 9 | g.123376879G>C | CA467089976 | CRB2 | c.3675G>C (p.Val1225=) c.2679G>C (p.Val893=) n.2789G>C c.3648G>C (p.Val1216=) c.3480G>C (p.Val1160=) | |
| 9 | g.123376879G>T | CA467089973 | CRB2 | c.3675G>T (p.Val1225=) c.2679G>T (p.Val893=) n.2789G>T c.3648G>T (p.Val1216=) c.3480G>T (p.Val1160=) | gnomAD v4 |
| 9 | g.123376880G>A | CA374869599 | CRB2 | c.3676G>A (p.Ala1226Thr) c.2680G>A (p.Ala894Thr) n.2790G>A c.3649G>A (p.Ala1217Thr) c.3481G>A (p.Ala1161Thr) | gnomAD v4 |
| 9 | g.123376880G>C | CA374869600 | CRB2 | c.3676G>C (p.Ala1226Pro) c.2680G>C (p.Ala894Pro) n.2790G>C c.3649G>C (p.Ala1217Pro) c.3481G>C (p.Ala1161Pro) | |
| 9 | g.123376880G>T | CA374869601 | CRB2 | c.3676G>T (p.Ala1226Ser) c.2680G>T (p.Ala894Ser) n.2790G>T c.3649G>T (p.Ala1217Ser) c.3481G>T (p.Ala1161Ser) | |
| 9 | g.123376881C>A | CA374869602 | CRB2 | c.3677C>A (p.Ala1226Asp) c.2681C>A (p.Ala894Asp) n.2791C>A c.3650C>A (p.Ala1217Asp) c.3482C>A (p.Ala1161Asp) | gnomAD v4 |
| 9 | g.123376881C= | CA1877946396 | CRB2 | c.3677C= (p.Ala1226=) c.2681C= (p.Ala894=) n.2791C= c.3650C= (p.Ala1217=) c.3482C= (p.Ala1161=) | |
| 9 | g.123376881C>G | CA374869603 | CRB2 | c.3677C>G (p.Ala1226Gly) c.2681C>G (p.Ala894Gly) n.2791C>G c.3650C>G (p.Ala1217Gly) c.3482C>G (p.Ala1161Gly) | dbSNP gnomAD v2 |
| 9 | g.123376881C>T | CA374869604 | CRB2 | c.3677C>T (p.Ala1226Val) c.2681C>T (p.Ala894Val) n.2791C>T c.3650C>T (p.Ala1217Val) c.3482C>T (p.Ala1161Val) | gnomAD v4 |
| 9 | g.123376882C>A | CA467089992 | CRB2 | c.3678C>A (p.Ala1226=) c.2682C>A (p.Ala894=) n.2792C>A c.3651C>A (p.Ala1217=) c.3483C>A (p.Ala1161=) | gnomAD v4 |
| 9 | g.123376882C= | CA1877946407 | CRB2 | c.3678C= (p.Ala1226=) c.2682C= (p.Ala894=) n.2792C= c.3651C= (p.Ala1217=) c.3483C= (p.Ala1161=) | |
| 9 | g.123376882C>G | CA5232585 | CRB2 | c.3678C>G (p.Ala1226=) c.2682C>G (p.Ala894=) n.2792C>G c.3651C>G (p.Ala1217=) c.3483C>G (p.Ala1161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376882C>T | CA5232584 | CRB2 | c.3678C>T (p.Ala1226=) c.2682C>T (p.Ala894=) n.2792C>T c.3651C>T (p.Ala1217=) c.3483C>T (p.Ala1161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376883G>A | CA5232586 | CRB2 | c.3679G>A (p.Val1227Ile) c.2683G>A (p.Val895Ile) n.2793G>A c.3652G>A (p.Val1218Ile) c.3484G>A (p.Val1162Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376883G>C | CA374869606 | CRB2 | c.3679G>C (p.Val1227Leu) c.2683G>C (p.Val895Leu) n.2793G>C c.3652G>C (p.Val1218Leu) c.3484G>C (p.Val1162Leu) | |
| 9 | g.123376883G= | CA1877946411 | CRB2 | c.3679G= (p.Val1227=) c.2683G= (p.Val895=) n.2793G= c.3652G= (p.Val1218=) c.3484G= (p.Val1162=) | |
| 9 | g.123376883G>T | CA374869605 | CRB2 | c.3679G>T (p.Val1227Leu) c.2683G>T (p.Val895Leu) n.2793G>T c.3652G>T (p.Val1218Leu) c.3484G>T (p.Val1162Leu) | |
| 9 | g.123376885_123376897del | CA2691592047 | CRB2 | c.3681_3693del (p.Ala1230SerfsTer?) c.2685_2697del (p.Ala898SerfsTer?) n.2795_2807del c.3654_3666del (p.Ala1221SerfsTer?) c.3486_3498del (p.Ala1165SerfsTer?) | gnomAD v4 |
| 9 | g.123376884T>A | CA374869607 | CRB2 | c.3680T>A (p.Val1227Glu) c.2684T>A (p.Val895Glu) n.2794T>A c.3653T>A (p.Val1218Glu) c.3485T>A (p.Val1162Glu) | |
| 9 | g.123376884T>C | CA374869608 | CRB2 | c.3680T>C (p.Val1227Ala) c.2684T>C (p.Val895Ala) n.2794T>C c.3653T>C (p.Val1218Ala) c.3485T>C (p.Val1162Ala) | |
| 9 | g.123376884T>G | CA374869609 | CRB2 | c.3680T>G (p.Val1227Gly) c.2684T>G (p.Val895Gly) n.2794T>G c.3653T>G (p.Val1218Gly) c.3485T>G (p.Val1162Gly) | |
| 9 | g.123376885A= | CA1877946416 | CRB2 | c.3681A= (p.Val1227=) c.2685A= (p.Val895=) n.2795A= c.3654A= (p.Val1218=) c.3486A= (p.Val1162=) | |
| 9 | g.123376885A>C | CA467090006 | CRB2 | c.3681A>C (p.Val1227=) c.2685A>C (p.Val895=) n.2795A>C c.3654A>C (p.Val1218=) c.3486A>C (p.Val1162=) | dbSNP |
| 9 | g.123376885A>G | CA467090008 | CRB2 | c.3681A>G (p.Val1227=) c.2685A>G (p.Val895=) n.2795A>G c.3654A>G (p.Val1218=) c.3486A>G (p.Val1162=) | gnomAD v4 |
| 9 | g.123376885A>T | CA467090011 | CRB2 | c.3681A>T (p.Val1227=) c.2685A>T (p.Val895=) n.2795A>T c.3654A>T (p.Val1218=) c.3486A>T (p.Val1162=) | |
| 9 | g.123376886C>A | CA5232587 | CRB2 | c.3682C>A (p.Pro1228Thr) c.2686C>A (p.Pro896Thr) n.2796C>A c.3655C>A (p.Pro1219Thr) c.3487C>A (p.Pro1163Thr) | dbSNP ExAC gnomAD v2 |
| 9 | g.123376886C= | CA1877946418 | CRB2 | c.3682C= (p.Pro1228=) c.2686C= (p.Pro896=) n.2796C= c.3655C= (p.Pro1219=) c.3487C= (p.Pro1163=) | |
| 9 | g.123376886C>G | CA374869610 | CRB2 | c.3682C>G (p.Pro1228Ala) c.2686C>G (p.Pro896Ala) n.2796C>G c.3655C>G (p.Pro1219Ala) c.3487C>G (p.Pro1163Ala) | |
| 9 | g.123376886C>T | CA374869611 | CRB2 | c.3682C>T (p.Pro1228Ser) c.2686C>T (p.Pro896Ser) n.2796C>T c.3655C>T (p.Pro1219Ser) c.3487C>T (p.Pro1163Ser) | |
| 9 | g.123376887C>A | CA374869612 | CRB2 | c.3683C>A (p.Pro1228His) c.2687C>A (p.Pro896His) n.2797C>A c.3656C>A (p.Pro1219His) c.3488C>A (p.Pro1163His) | dbSNP gnomAD v4 COSMIC |
| 9 | g.123376887C= | CA1877946421 | CRB2 | c.3683C= (p.Pro1228=) c.2687C= (p.Pro896=) n.2797C= c.3656C= (p.Pro1219=) c.3488C= (p.Pro1163=) | |
| 9 | g.123376887C>G | CA374869613 | CRB2 | c.3683C>G (p.Pro1228Arg) c.2687C>G (p.Pro896Arg) n.2797C>G c.3656C>G (p.Pro1219Arg) c.3488C>G (p.Pro1163Arg) | |
| 9 | g.123376887C>T | CA374869614 | CRB2 | c.3683C>T (p.Pro1228Leu) c.2687C>T (p.Pro896Leu) n.2797C>T c.3656C>T (p.Pro1219Leu) c.3488C>T (p.Pro1163Leu) | |
| 9 | g.123376888T>A | CA467090025 | CRB2 | c.3684T>A (p.Pro1228=) c.2688T>A (p.Pro896=) n.2798T>A c.3657T>A (p.Pro1219=) c.3489T>A (p.Pro1163=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376888T>C | CA467090027 | CRB2 | c.3684T>C (p.Pro1228=) c.2688T>C (p.Pro896=) n.2798T>C c.3657T>C (p.Pro1219=) c.3489T>C (p.Pro1163=) | |
| 9 | g.123376888T>G | CA467090029 | CRB2 | c.3684T>G (p.Pro1228=) c.2688T>G (p.Pro896=) n.2798T>G c.3657T>G (p.Pro1219=) c.3489T>G (p.Pro1163=) | |
| 9 | g.123376888T= | CA1877946426 | CRB2 | c.3684T= (p.Pro1228=) c.2688T= (p.Pro896=) n.2798T= c.3657T= (p.Pro1219=) c.3489T= (p.Pro1163=) | |
| 9 | g.123376889G>A | CA374869615 | CRB2 | c.3685G>A (p.Ala1229Thr) c.2689G>A (p.Ala897Thr) n.2799G>A c.3658G>A (p.Ala1220Thr) c.3490G>A (p.Ala1164Thr) | gnomAD v4 |
| 9 | g.123376889G>C | CA374869616 | CRB2 | c.3685G>C (p.Ala1229Pro) c.2689G>C (p.Ala897Pro) n.2799G>C c.3658G>C (p.Ala1220Pro) c.3490G>C (p.Ala1164Pro) | |
| 9 | g.123376889G>T | CA374869617 | CRB2 | c.3685G>T (p.Ala1229Ser) c.2689G>T (p.Ala897Ser) n.2799G>T c.3658G>T (p.Ala1220Ser) c.3490G>T (p.Ala1164Ser) | |
| 9 | g.123376890C>A | CA374869618 | CRB2 | c.3686C>A (p.Ala1229Glu) c.2690C>A (p.Ala897Glu) n.2800C>A c.3659C>A (p.Ala1220Glu) c.3491C>A (p.Ala1164Glu) | |
| 9 | g.123376890C= | CA1877946432 | CRB2 | c.3686C= (p.Ala1229=) c.2690C= (p.Ala897=) n.2800C= c.3659C= (p.Ala1220=) c.3491C= (p.Ala1164=) | |
| 9 | g.123376890C>G | CA199643034 | CRB2 | c.3686C>G (p.Ala1229Gly) c.2690C>G (p.Ala897Gly) n.2800C>G c.3659C>G (p.Ala1220Gly) c.3491C>G (p.Ala1164Gly) | dbSNP gnomAD v4 |
| 9 | g.123376890C>T | CA199643037 | CRB2 | c.3686C>T (p.Ala1229Val) c.2690C>T (p.Ala897Val) n.2800C>T c.3659C>T (p.Ala1220Val) c.3491C>T (p.Ala1164Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376891A>C | CA467090044 | CRB2 | c.3687A>C (p.Ala1229=) c.2691A>C (p.Ala897=) n.2801A>C c.3660A>C (p.Ala1220=) c.3492A>C (p.Ala1164=) | |
| 9 | g.123376891A>G | CA467090046 | CRB2 | c.3687A>G (p.Ala1229=) c.2691A>G (p.Ala897=) n.2801A>G c.3660A>G (p.Ala1220=) c.3492A>G (p.Ala1164=) | |
| 9 | g.123376891A>T | CA467090048 | CRB2 | c.3687A>T (p.Ala1229=) c.2691A>T (p.Ala897=) n.2801A>T c.3660A>T (p.Ala1220=) c.3492A>T (p.Ala1164=) | |
| 9 | g.123376892G>A | CA374869619 | CRB2 | c.3688G>A (p.Ala1230Thr) c.2692G>A (p.Ala898Thr) n.2802G>A c.3661G>A (p.Ala1221Thr) c.3493G>A (p.Ala1165Thr) | |
| 9 | g.123376892G>C | CA374869620 | CRB2 | c.3688G>C (p.Ala1230Pro) c.2692G>C (p.Ala898Pro) n.2802G>C c.3661G>C (p.Ala1221Pro) c.3493G>C (p.Ala1165Pro) | |
| 9 | g.123376892G>T | CA374869621 | CRB2 | c.3688G>T (p.Ala1230Ser) c.2692G>T (p.Ala898Ser) n.2802G>T c.3661G>T (p.Ala1221Ser) c.3493G>T (p.Ala1165Ser) | gnomAD v4 |
| 9 | g.123376893C>A | CA374869622 | CRB2 | c.3689C>A (p.Ala1230Asp) c.2693C>A (p.Ala898Asp) n.2803C>A c.3662C>A (p.Ala1221Asp) c.3494C>A (p.Ala1165Asp) | |
| 9 | g.123376893C>G | CA374869623 | CRB2 | c.3689C>G (p.Ala1230Gly) c.2693C>G (p.Ala898Gly) n.2803C>G c.3662C>G (p.Ala1221Gly) c.3494C>G (p.Ala1165Gly) | |
| 9 | g.123376893C>T | CA374869624 | CRB2 | c.3689C>T (p.Ala1230Val) c.2693C>T (p.Ala898Val) n.2803C>T c.3662C>T (p.Ala1221Val) c.3494C>T (p.Ala1165Val) | gnomAD v4 COSMIC |
| 9 | g.123376894C>A | CA467090063 | CRB2 | c.3690C>A (p.Ala1230=) c.2694C>A (p.Ala898=) n.2804C>A c.3663C>A (p.Ala1221=) c.3495C>A (p.Ala1165=) | |
| 9 | g.123376894C>G | CA467090064 | CRB2 | c.3690C>G (p.Ala1230=) c.2694C>G (p.Ala898=) n.2804C>G c.3663C>G (p.Ala1221=) c.3495C>G (p.Ala1165=) | |
| 9 | g.123376894C>T | CA467090067 | CRB2 | c.3690C>T (p.Ala1230=) c.2694C>T (p.Ala898=) n.2804C>T c.3663C>T (p.Ala1221=) c.3495C>T (p.Ala1165=) | |
| 9 | g.123376895T>A | CA374869626 | CRB2 | c.3691T>A (p.Cys1231Ser) c.2695T>A (p.Cys899Ser) n.2805T>A c.3664T>A (p.Cys1222Ser) c.3496T>A (p.Cys1166Ser) | |
| 9 | g.123376895T>C | CA374869625 | CRB2 | c.3691T>C (p.Cys1231Arg) c.2695T>C (p.Cys899Arg) n.2805T>C c.3664T>C (p.Cys1222Arg) c.3496T>C (p.Cys1166Arg) | |
| 9 | g.123376895T>G | CA199643040 | CRB2 | c.3691T>G (p.Cys1231Gly) c.2695T>G (p.Cys899Gly) n.2805T>G c.3664T>G (p.Cys1222Gly) c.3496T>G (p.Cys1166Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376895T= | CA1877946438 | CRB2 | c.3691T= (p.Cys1231=) c.2695T= (p.Cys899=) n.2805T= c.3664T= (p.Cys1222=) c.3496T= (p.Cys1166=) | |
| 9 | g.123376896G>A | CA5232588 | CRB2 | c.3692G>A (p.Cys1231Tyr) c.2696G>A (p.Cys899Tyr) n.2806G>A c.3665G>A (p.Cys1222Tyr) c.3497G>A (p.Cys1166Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376896G>C | CA374869627 | CRB2 | c.3692G>C (p.Cys1231Ser) c.2696G>C (p.Cys899Ser) n.2806G>C c.3665G>C (p.Cys1222Ser) c.3497G>C (p.Cys1166Ser) | |
| 9 | g.123376896G= | CA1877946441 | CRB2 | c.3692G= (p.Cys1231=) c.2696G= (p.Cys899=) n.2806G= c.3665G= (p.Cys1222=) c.3497G= (p.Cys1166=) | |
| 9 | g.123376896G>T | CA374869628 | CRB2 | c.3692G>T (p.Cys1231Phe) c.2696G>T (p.Cys899Phe) n.2806G>T c.3665G>T (p.Cys1222Phe) c.3497G>T (p.Cys1166Phe) | |
| 9 | g.123376897T>A | CA374869629 | CRB2 | c.3693T>A (p.Cys1231Ter) c.2697T>A (p.Cys899Ter) n.2807T>A c.3666T>A (p.Cys1222Ter) c.3498T>A (p.Cys1166Ter) | |
| 9 | g.123376897T>C | CA467090082 | CRB2 | c.3693T>C (p.Cys1231=) c.2697T>C (p.Cys899=) n.2807T>C c.3666T>C (p.Cys1222=) c.3498T>C (p.Cys1166=) | |
| 9 | g.123376897T>G | CA374869630 | CRB2 | c.3693T>G (p.Cys1231Trp) c.2697T>G (p.Cys899Trp) n.2807T>G c.3666T>G (p.Cys1222Trp) c.3498T>G (p.Cys1166Trp) | |
| 9 | g.123376898G>A | CA374869631 | CRB2 | c.3694G>A (p.Ala1232Thr) c.2698G>A (p.Ala900Thr) n.2808G>A c.3667G>A (p.Ala1223Thr) c.3499G>A (p.Ala1167Thr) | |
| 9 | g.123376898G>C | CA374869633 | CRB2 | c.3694G>C (p.Ala1232Pro) c.2698G>C (p.Ala900Pro) n.2808G>C c.3667G>C (p.Ala1223Pro) c.3499G>C (p.Ala1167Pro) | |
| 9 | g.123376898G>T | CA374869632 | CRB2 | c.3694G>T (p.Ala1232Ser) c.2698G>T (p.Ala900Ser) n.2808G>T c.3667G>T (p.Ala1223Ser) c.3499G>T (p.Ala1167Ser) | gnomAD v4 |
| 9 | g.123376899C>A | CA374869634 | CRB2 | c.3695C>A (p.Ala1232Asp) c.2699C>A (p.Ala900Asp) n.2809C>A c.3668C>A (p.Ala1223Asp) c.3500C>A (p.Ala1167Asp) | gnomAD v4 |
| 9 | g.123376899C>G | CA374869635 | CRB2 | c.3695C>G (p.Ala1232Gly) c.2699C>G (p.Ala900Gly) n.2809C>G c.3668C>G (p.Ala1223Gly) c.3500C>G (p.Ala1167Gly) | |
| 9 | g.123376899C>T | CA374869636 | CRB2 | c.3695C>T (p.Ala1232Val) c.2699C>T (p.Ala900Val) n.2809C>T c.3668C>T (p.Ala1223Val) c.3500C>T (p.Ala1167Val) | gnomAD v4 |
| 9 | g.123376900C>A | CA467090102 | CRB2 | c.3696C>A (p.Ala1232=) c.2700C>A (p.Ala900=) n.2810C>A c.3669C>A (p.Ala1223=) c.3501C>A (p.Ala1167=) | gnomAD v4 |
| 9 | g.123376900C>G | CA467090100 | CRB2 | c.3696C>G (p.Ala1232=) c.2700C>G (p.Ala900=) n.2810C>G c.3669C>G (p.Ala1223=) c.3501C>G (p.Ala1167=) | |
| 9 | g.123376900C>T | CA467090099 | CRB2 | c.3696C>T (p.Ala1232=) c.2700C>T (p.Ala900=) n.2810C>T c.3669C>T (p.Ala1223=) c.3501C>T (p.Ala1167=) | |
| 9 | g.123376901T>A | CA374869637 | CRB2 | c.3697T>A (p.Cys1233Ser) c.2701T>A (p.Cys901Ser) n.2811T>A c.3670T>A (p.Cys1224Ser) c.3502T>A (p.Cys1168Ser) | |
| 9 | g.123376901T>C | CA374869638 | CRB2 | c.3697T>C (p.Cys1233Arg) c.2701T>C (p.Cys901Arg) n.2811T>C c.3670T>C (p.Cys1224Arg) c.3502T>C (p.Cys1168Arg) | |
| 9 | g.123376901T>G | CA374869639 | CRB2 | c.3697T>G (p.Cys1233Gly) c.2701T>G (p.Cys901Gly) n.2811T>G c.3670T>G (p.Cys1224Gly) c.3502T>G (p.Cys1168Gly) | |
| 9 | g.123376901T= | CA1877946450 | CRB2 | c.3697T= (p.Cys1233=) c.2701T= (p.Cys901=) n.2811T= c.3670T= (p.Cys1224=) c.3502T= (p.Cys1168=) | |
| 9 | g.123376902G>A | CA374869640 | CRB2 | c.3698G>A (p.Cys1233Tyr) c.2702G>A (p.Cys901Tyr) n.2812G>A c.3671G>A (p.Cys1224Tyr) c.3503G>A (p.Cys1168Tyr) | gnomAD v4 |
| 9 | g.123376902G>C | CA374869641 | CRB2 | c.3698G>C (p.Cys1233Ser) c.2702G>C (p.Cys901Ser) n.2812G>C c.3671G>C (p.Cys1224Ser) c.3503G>C (p.Cys1168Ser) | |
| 9 | g.123376902G= | CA1877946456 | CRB2 | c.3698G= (p.Cys1233=) c.2702G= (p.Cys901=) n.2812G= c.3671G= (p.Cys1224=) c.3503G= (p.Cys1168=) | |
| 9 | g.123376902G>T | CA374869642 | CRB2 | c.3698G>T (p.Cys1233Phe) c.2702G>T (p.Cys901Phe) n.2812G>T c.3671G>T (p.Cys1224Phe) c.3503G>T (p.Cys1168Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376902_123376906delinsGCCTC | CA1877946455 | CRB2 | c.3698_3702delinsGCCTC (p.Cys1233=) c.2702_2706delinsGCCTC (p.Cys901=) n.2812_2816delinsGCCTC c.3671_3675delinsGCCTC (p.Cys1224=) c.3503_3507delinsGCCTC (p.Cys1168=) | |
| 9 | g.123376902_123376910dup | CA5232589 | CRB2 | c.3698_3706dup (p.Leu1235_Leu1236insArgLeuLeu) c.2702_2710dup (p.Leu903_Leu904insArgLeuLeu) n.2812_2820dup c.3671_3679dup (p.Leu1226_Leu1227insArgLeuLeu) c.3503_3511dup (p.Leu1170_Leu1171insArgLeuLeu) | dbSNP ExAC gnomAD v2 |
| 9 | g.123376902_123376911delinsGCCTCCTCCT | CA1877946458 | CRB2 | c.3698_3707delinsGCCTCCTCCT (p.Cys1233=) c.2702_2711delinsGCCTCCTCCT (p.Cys901=) n.2812_2821delinsGCCTCCTCCT c.3671_3680delinsGCCTCCTCCT (p.Cys1224=) c.3503_3512delinsGCCTCCTCCT (p.Cys1168=) | |
| 9 | g.123376903C>A | CA374869643 | CRB2 | c.3699C>A (p.Cys1233Ter) c.2703C>A (p.Cys901Ter) n.2813C>A c.3672C>A (p.Cys1224Ter) c.3504C>A (p.Cys1168Ter) | gnomAD v4 |
| 9 | g.123376903C>G | CA374869644 | CRB2 | c.3699C>G (p.Cys1233Trp) c.2703C>G (p.Cys901Trp) n.2813C>G c.3672C>G (p.Cys1224Trp) c.3504C>G (p.Cys1168Trp) | |
| 9 | g.123376903C>T | CA467090166 | CRB2 | c.3699C>T (p.Cys1233=) c.2703C>T (p.Cys901=) n.2813C>T c.3672C>T (p.Cys1224=) c.3504C>T (p.Cys1168=) | |
| 9 | g.123376904_123376907del | CA891862795 | CRB2 | c.3700_3703del (p.Leu1234SerfsTer?) c.2704_2707del (p.Leu902SerfsTer?) n.2814_2817del c.3673_3676del (p.Leu1225SerfsTer?) c.3505_3508del (p.Leu1169SerfsTer?) | ClinVar dbSNP |
| 9 | g.123376918_123376920dup | CA5232590 | CRB2 | c.3714_3716dup (p.Leu1239_Gly1240insLeu) c.2718_2720dup (p.Leu907_Gly908insLeu) n.2828_2830dup c.3687_3689dup (p.Leu1230_Gly1231insLeu) c.3519_3521dup (p.Leu1174_Gly1175insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376915_123376920dup | CA5232592 | CRB2 | c.3711_3716dup (p.Leu1239_Gly1240insLeuLeu) c.2715_2720dup (p.Leu907_Gly908insLeuLeu) n.2825_2830dup c.3684_3689dup (p.Leu1230_Gly1231insLeuLeu) c.3516_3521dup (p.Leu1174_Gly1175insLeuLeu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376918_123376920del | CA5232591 | CRB2 | c.3714_3716del (p.Leu1239del) c.2718_2720del (p.Leu907del) n.2828_2830del c.3687_3689del (p.Leu1230del) c.3519_3521del (p.Leu1174del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.123376915_123376920del | CA5232593 | CRB2 | c.3711_3716del (p.Leu1238_Leu1239del) c.2715_2720del (p.Leu906_Leu907del) n.2825_2830del c.3684_3689del (p.Leu1229_Leu1230del) c.3516_3521del (p.Leu1173_Leu1174del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376912_123376920del | CA467090158 | CRB2 | c.3708_3716del (p.Leu1237_Leu1239del) c.2712_2720del (p.Leu905_Leu907del) n.2822_2830del c.3681_3689del (p.Leu1228_Leu1230del) c.3513_3521del (p.Leu1172_Leu1174del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376904C>A | CA374869645 | CRB2 | c.3700C>A (p.Leu1234Ile) c.2704C>A (p.Leu902Ile) n.2814C>A c.3673C>A (p.Leu1225Ile) c.3505C>A (p.Leu1169Ile) | gnomAD v4 |
| 9 | g.123376904C= | CA1877946488 | CRB2 | c.3700C= (p.Leu1234=) c.2704C= (p.Leu902=) n.2814C= c.3673C= (p.Leu1225=) c.3505C= (p.Leu1169=) | |
| 9 | g.123376904C>G | CA374869647 | CRB2 | c.3700C>G (p.Leu1234Val) c.2704C>G (p.Leu902Val) n.2814C>G c.3673C>G (p.Leu1225Val) c.3505C>G (p.Leu1169Val) | dbSNP |
| 9 | g.123376904C>T | CA374869646 | CRB2 | c.3700C>T (p.Leu1234Phe) c.2704C>T (p.Leu902Phe) n.2814C>T c.3673C>T (p.Leu1225Phe) c.3505C>T (p.Leu1169Phe) | |
| 9 | g.123376905T>A | CA374869648 | CRB2 | c.3701T>A (p.Leu1234His) c.2705T>A (p.Leu902His) n.2815T>A c.3674T>A (p.Leu1225His) c.3506T>A (p.Leu1169His) | |
| 9 | g.123376905T>C | CA374869649 | CRB2 | c.3701T>C (p.Leu1234Pro) c.2705T>C (p.Leu902Pro) n.2815T>C c.3674T>C (p.Leu1225Pro) c.3506T>C (p.Leu1169Pro) | |
| 9 | g.123376905T>G | CA374869650 | CRB2 | c.3701T>G (p.Leu1234Arg) c.2705T>G (p.Leu902Arg) n.2815T>G c.3674T>G (p.Leu1225Arg) c.3506T>G (p.Leu1169Arg) | |
| 9 | g.123376906_123376907insTTC | CA2691592048 | CRB2 | c.3702_3703insTTC (p.Leu1234_Leu1235insPhe) c.2706_2707insTTC (p.Leu902_Leu903insPhe) n.2816_2817insTTC c.3675_3676insTTC (p.Leu1225_Leu1226insPhe) c.3507_3508insTTC (p.Leu1169_Leu1170insPhe) | gnomAD v4 |
| 9 | g.123376906C>A | CA467090186 | CRB2 | c.3702C>A (p.Leu1234=) c.2706C>A (p.Leu902=) n.2816C>A c.3675C>A (p.Leu1225=) c.3507C>A (p.Leu1169=) | |
| 9 | g.123376906C= | CA1877946491 | CRB2 | c.3702C= (p.Leu1234=) c.2706C= (p.Leu902=) n.2816C= c.3675C= (p.Leu1225=) c.3507C= (p.Leu1169=) | |
| 9 | g.123376906C>G | CA5232594 | CRB2 | c.3702C>G (p.Leu1234=) c.2706C>G (p.Leu902=) n.2816C>G c.3675C>G (p.Leu1225=) c.3507C>G (p.Leu1169=) | dbSNP ExAC gnomAD v2 |
| 9 | g.123376906C>T | CA467090189 | CRB2 | c.3702C>T (p.Leu1234=) c.2706C>T (p.Leu902=) n.2816C>T c.3675C>T (p.Leu1225=) c.3507C>T (p.Leu1169=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123376907C>A | CA374869651 | CRB2 | c.3703C>A (p.Leu1235Ile) c.2707C>A (p.Leu903Ile) n.2817C>A c.3676C>A (p.Leu1226Ile) c.3508C>A (p.Leu1170Ile) | |
| 9 | g.123376907C>G | CA374869652 | CRB2 | c.3703C>G (p.Leu1235Val) c.2707C>G (p.Leu903Val) n.2817C>G c.3676C>G (p.Leu1226Val) c.3508C>G (p.Leu1170Val) | |
| 9 | g.123376907C>T | CA374869653 | CRB2 | c.3703C>T (p.Leu1235Phe) c.2707C>T (p.Leu903Phe) n.2817C>T c.3676C>T (p.Leu1226Phe) c.3508C>T (p.Leu1170Phe) | gnomAD v4 |
| 9 | g.123376908T>A | CA374869654 | CRB2 | c.3704T>A (p.Leu1235His) c.2708T>A (p.Leu903His) n.2818T>A c.3677T>A (p.Leu1226His) c.3509T>A (p.Leu1170His) | |
| 9 | g.123376908T>C | CA374869655 | CRB2 | c.3704T>C (p.Leu1235Pro) c.2708T>C (p.Leu903Pro) n.2818T>C c.3677T>C (p.Leu1226Pro) c.3509T>C (p.Leu1170Pro) | |
| 9 | g.123376908T>G | CA374869656 | CRB2 | c.3704T>G (p.Leu1235Arg) c.2708T>G (p.Leu903Arg) n.2818T>G c.3677T>G (p.Leu1226Arg) c.3509T>G (p.Leu1170Arg) | |
| 9 | g.123376908T= | CA1877946494 | CRB2 | c.3704T= (p.Leu1235=) c.2708T= (p.Leu903=) n.2818T= c.3677T= (p.Leu1226=) c.3509T= (p.Leu1170=) | |
| 9 | g.123376909C>A | CA467090203 | CRB2 | c.3705C>A (p.Leu1235=) c.2709C>A (p.Leu903=) n.2819C>A c.3678C>A (p.Leu1226=) c.3510C>A (p.Leu1170=) | |
| 9 | g.123376909C= | CA1877946499 | CRB2 | c.3705C= (p.Leu1235=) c.2709C= (p.Leu903=) n.2819C= c.3678C= (p.Leu1226=) c.3510C= (p.Leu1170=) | |
| 9 | g.123376909C>G | CA467090205 | CRB2 | c.3705C>G (p.Leu1235=) c.2709C>G (p.Leu903=) n.2819C>G c.3678C>G (p.Leu1226=) c.3510C>G (p.Leu1170=) | gnomAD v4 |
| 9 | g.123376909C>T | CA5232595 | CRB2 | c.3705C>T (p.Leu1235=) c.2709C>T (p.Leu903=) n.2819C>T c.3678C>T (p.Leu1226=) c.3510C>T (p.Leu1170=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376910_123376911insCCC | CA1877946497 | CRB2 | c.3706_3707insCCC (p.Leu1235_Leu1236insPro) c.2710_2711insCCC (p.Leu903_Leu904insPro) n.2820_2821insCCC c.3679_3680insCCC (p.Leu1226_Leu1227insPro) c.3511_3512insCCC (p.Leu1170_Leu1171insPro) | dbSNP |
| 9 | g.123376910C>A | CA374869657 | CRB2 | c.3706C>A (p.Leu1236Ile) c.2710C>A (p.Leu904Ile) n.2820C>A c.3679C>A (p.Leu1227Ile) c.3511C>A (p.Leu1171Ile) | |
| 9 | g.123376910C= | CA1877946502 | CRB2 | c.3706C= (p.Leu1236=) c.2710C= (p.Leu904=) n.2820C= c.3679C= (p.Leu1227=) c.3511C= (p.Leu1171=) | |
| 9 | g.123376910C>G | CA374869658 | CRB2 | c.3706C>G (p.Leu1236Val) c.2710C>G (p.Leu904Val) n.2820C>G c.3679C>G (p.Leu1227Val) c.3511C>G (p.Leu1171Val) | |
| 9 | g.123376910C>T | CA374869659 | CRB2 | c.3706C>T (p.Leu1236Phe) c.2710C>T (p.Leu904Phe) n.2820C>T c.3679C>T (p.Leu1227Phe) c.3511C>T (p.Leu1171Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123376911T>A | CA374869662 | CRB2 | c.3707T>A (p.Leu1236His) c.2711T>A (p.Leu904His) n.2821T>A c.3680T>A (p.Leu1227His) c.3512T>A (p.Leu1171His) | |
| 9 | g.123376911T>C | CA374869661 | CRB2 | c.3707T>C (p.Leu1236Pro) c.2711T>C (p.Leu904Pro) n.2821T>C c.3680T>C (p.Leu1227Pro) c.3512T>C (p.Leu1171Pro) | |
| 9 | g.123376911T>G | CA374869660 | CRB2 | c.3707T>G (p.Leu1236Arg) c.2711T>G (p.Leu904Arg) n.2821T>G c.3680T>G (p.Leu1227Arg) c.3512T>G (p.Leu1171Arg) | |
| 9 | g.123376911_123376931del | CA2691592049 | CRB2 | c.3707_3727del (p.Leu1236_Ser1243delinsPro) c.2711_2731del (p.Leu904_Ser911delinsPro) n.2821_2841del c.3680_3700del (p.Leu1227_Ser1234delinsPro) c.3512_3532del (p.Leu1171_Ser1178delinsPro) | gnomAD v4 |
| 9 | g.123376912C>A | CA467090218 | CRB2 | c.3708C>A (p.Leu1236=) c.2712C>A (p.Leu904=) n.2822C>A c.3681C>A (p.Leu1227=) c.3513C>A (p.Leu1171=) | |
| 9 | g.123376912C>G | CA467090220 | CRB2 | c.3708C>G (p.Leu1236=) c.2712C>G (p.Leu904=) n.2822C>G c.3681C>G (p.Leu1227=) c.3513C>G (p.Leu1171=) | |
| 9 | g.123376912C>T | CA467090222 | CRB2 | c.3708C>T (p.Leu1236=) c.2712C>T (p.Leu904=) n.2822C>T c.3681C>T (p.Leu1227=) c.3513C>T (p.Leu1171=) | gnomAD v4 |
| 9 | g.123376913C>A | CA5232596 | CRB2 | c.3709C>A (p.Leu1237Ile) c.2713C>A (p.Leu905Ile) n.2823C>A c.3682C>A (p.Leu1228Ile) c.3514C>A (p.Leu1172Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376913C= | CA1877946508 | CRB2 | c.3709C= (p.Leu1237=) c.2713C= (p.Leu905=) n.2823C= c.3682C= (p.Leu1228=) c.3514C= (p.Leu1172=) | |
| 9 | g.123376913C>G | CA5232598 | CRB2 | c.3709C>G (p.Leu1237Val) c.2713C>G (p.Leu905Val) n.2823C>G c.3682C>G (p.Leu1228Val) c.3514C>G (p.Leu1172Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376913C>T | CA5232597 | CRB2 | c.3709C>T (p.Leu1237Phe) c.2713C>T (p.Leu905Phe) n.2823C>T c.3682C>T (p.Leu1228Phe) c.3514C>T (p.Leu1172Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376914T>A | CA374869663 | CRB2 | c.3710T>A (p.Leu1237His) c.2714T>A (p.Leu905His) n.2824T>A c.3683T>A (p.Leu1228His) c.3515T>A (p.Leu1172His) | |
| 9 | g.123376914T>C | CA374869664 | CRB2 | c.3710T>C (p.Leu1237Pro) c.2714T>C (p.Leu905Pro) n.2824T>C c.3683T>C (p.Leu1228Pro) c.3515T>C (p.Leu1172Pro) | |
| 9 | g.123376914T>G | CA374869665 | CRB2 | c.3710T>G (p.Leu1237Arg) c.2714T>G (p.Leu905Arg) n.2824T>G c.3683T>G (p.Leu1228Arg) c.3515T>G (p.Leu1172Arg) | |
| 9 | g.123376915C>A | CA467090240 | CRB2 | c.3711C>A (p.Leu1237=) c.2715C>A (p.Leu905=) n.2825C>A c.3684C>A (p.Leu1228=) c.3516C>A (p.Leu1172=) | gnomAD v4 |
| 9 | g.123376915C>G | CA467090243 | CRB2 | c.3711C>G (p.Leu1237=) c.2715C>G (p.Leu905=) n.2825C>G c.3684C>G (p.Leu1228=) c.3516C>G (p.Leu1172=) | gnomAD v4 |
| 9 | g.123376915C>T | CA467090245 | CRB2 | c.3711C>T (p.Leu1237=) c.2715C>T (p.Leu905=) n.2825C>T c.3684C>T (p.Leu1228=) c.3516C>T (p.Leu1172=) | gnomAD v4 |
| 9 | g.123376916C>A | CA374869666 | CRB2 | c.3712C>A (p.Leu1238Ile) c.2716C>A (p.Leu906Ile) n.2826C>A c.3685C>A (p.Leu1229Ile) c.3517C>A (p.Leu1173Ile) | |
| 9 | g.123376916C= | CA1877946516 | CRB2 | c.3712C= (p.Leu1238=) c.2716C= (p.Leu906=) n.2826C= c.3685C= (p.Leu1229=) c.3517C= (p.Leu1173=) | |
| 9 | g.123376916C>G | CA374869667 | CRB2 | c.3712C>G (p.Leu1238Val) c.2716C>G (p.Leu906Val) n.2826C>G c.3685C>G (p.Leu1229Val) c.3517C>G (p.Leu1173Val) | |
| 9 | g.123376916C>T | CA5232599 | CRB2 | c.3712C>T (p.Leu1238Phe) c.2716C>T (p.Leu906Phe) n.2826C>T c.3685C>T (p.Leu1229Phe) c.3517C>T (p.Leu1173Phe) | dbSNP ExAC gnomAD v4 |
| 9 | g.123376917T>A | CA374869668 | CRB2 | c.3713T>A (p.Leu1238His) c.2717T>A (p.Leu906His) n.2827T>A c.3686T>A (p.Leu1229His) c.3518T>A (p.Leu1173His) | |
| 9 | g.123376917T>C | CA374869669 | CRB2 | c.3713T>C (p.Leu1238Pro) c.2717T>C (p.Leu906Pro) n.2827T>C c.3686T>C (p.Leu1229Pro) c.3518T>C (p.Leu1173Pro) | |
| 9 | g.123376917T>G | CA374869670 | CRB2 | c.3713T>G (p.Leu1238Arg) c.2717T>G (p.Leu906Arg) n.2827T>G c.3686T>G (p.Leu1229Arg) c.3518T>G (p.Leu1173Arg) | gnomAD v4 |
| 9 | g.123376917_123376923delinsTCCTGGG | CA1877946520 | CRB2 | c.3713_3719delinsTCCTGGG (p.Leu1238=) c.2717_2723delinsTCCTGGG (p.Leu906=) n.2827_2833delinsTCCTGGG c.3686_3692delinsTCCTGGG (p.Leu1229=) c.3518_3524delinsTCCTGGG (p.Leu1173=) | |
| 9 | g.123376918C>A | CA467090262 | CRB2 | c.3714C>A (p.Leu1238=) c.2718C>A (p.Leu906=) n.2828C>A c.3687C>A (p.Leu1229=) c.3519C>A (p.Leu1173=) | gnomAD v4 |
| 9 | g.123376918C= | CA1877946529 | CRB2 | c.3714C= (p.Leu1238=) c.2718C= (p.Leu906=) n.2828C= c.3687C= (p.Leu1229=) c.3519C= (p.Leu1173=) | |
| 9 | g.123376918C>G | CA467090268 | CRB2 | c.3714C>G (p.Leu1238=) c.2718C>G (p.Leu906=) n.2828C>G c.3687C>G (p.Leu1229=) c.3519C>G (p.Leu1173=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123376918C>T | CA467090266 | CRB2 | c.3714C>T (p.Leu1238=) c.2718C>T (p.Leu906=) n.2828C>T c.3687C>T (p.Leu1229=) c.3519C>T (p.Leu1173=) | dbSNP gnomAD v2 |
| 9 | g.123376921_123376926del | CA5232600 | CRB2 | c.3717_3722del (p.Gly1240_Leu1241del) c.2721_2726del (p.Gly908_Leu909del) n.2831_2836del c.3690_3695del (p.Gly1231_Leu1232del) c.3522_3527del (p.Gly1175_Leu1176del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376919C>A | CA374869671 | CRB2 | c.3715C>A (p.Leu1239Met) c.2719C>A (p.Leu907Met) n.2829C>A c.3688C>A (p.Leu1230Met) c.3520C>A (p.Leu1174Met) | |
| 9 | g.123376919C>G | CA374869672 | CRB2 | c.3715C>G (p.Leu1239Val) c.2719C>G (p.Leu907Val) n.2829C>G c.3688C>G (p.Leu1230Val) c.3520C>G (p.Leu1174Val) | |
| 9 | g.123376919C>T | CA467090276 | CRB2 | c.3715C>T (p.Leu1239=) c.2719C>T (p.Leu907=) n.2829C>T c.3688C>T (p.Leu1230=) c.3520C>T (p.Leu1174=) | |
| 9 | g.123376920T>A | CA374869674 | CRB2 | c.3716T>A (p.Leu1239Gln) c.2720T>A (p.Leu907Gln) n.2830T>A c.3689T>A (p.Leu1230Gln) c.3521T>A (p.Leu1174Gln) | |
| 9 | g.123376920T>C | CA374869675 | CRB2 | c.3716T>C (p.Leu1239Pro) c.2720T>C (p.Leu907Pro) n.2830T>C c.3689T>C (p.Leu1230Pro) c.3521T>C (p.Leu1174Pro) | |
| 9 | g.123376920T>G | CA374869673 | CRB2 | c.3716T>G (p.Leu1239Arg) c.2720T>G (p.Leu907Arg) n.2830T>G c.3689T>G (p.Leu1230Arg) c.3521T>G (p.Leu1174Arg) | |
| 9 | g.123376921G>A | CA5232601 | CRB2 | c.3717G>A (p.Leu1239=) c.2721G>A (p.Leu907=) n.2831G>A c.3690G>A (p.Leu1230=) c.3522G>A (p.Leu1174=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376921G>C | CA467090285 | CRB2 | c.3717G>C (p.Leu1239=) c.2721G>C (p.Leu907=) n.2831G>C c.3690G>C (p.Leu1230=) c.3522G>C (p.Leu1174=) | gnomAD v4 |
| 9 | g.123376921G= | CA1877946533 | CRB2 | c.3717G= (p.Leu1239=) c.2721G= (p.Leu907=) n.2831G= c.3690G= (p.Leu1230=) c.3522G= (p.Leu1174=) | |
| 9 | g.123376921G>T | CA467090287 | CRB2 | c.3717G>T (p.Leu1239=) c.2721G>T (p.Leu907=) n.2831G>T c.3690G>T (p.Leu1230=) c.3522G>T (p.Leu1174=) | |
| 9 | g.123376922G>A | CA5232602 | CRB2 | c.3718G>A (p.Gly1240Ser) c.2722G>A (p.Gly908Ser) n.2832G>A c.3691G>A (p.Gly1231Ser) c.3523G>A (p.Gly1175Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376922G>C | CA374869676 | CRB2 | c.3718G>C (p.Gly1240Arg) c.2722G>C (p.Gly908Arg) n.2832G>C c.3691G>C (p.Gly1231Arg) c.3523G>C (p.Gly1175Arg) | |
| 9 | g.123376922G= | CA1877946538 | CRB2 | c.3718G= (p.Gly1240=) c.2722G= (p.Gly908=) n.2832G= c.3691G= (p.Gly1231=) c.3523G= (p.Gly1175=) | |
| 9 | g.123376922G>T | CA374869677 | CRB2 | c.3718G>T (p.Gly1240Cys) c.2722G>T (p.Gly908Cys) n.2832G>T c.3691G>T (p.Gly1231Cys) c.3523G>T (p.Gly1175Cys) | |
| 9 | g.123376923G>A | CA374869678 | CRB2 | c.3719G>A (p.Gly1240Asp) c.2723G>A (p.Gly908Asp) n.2833G>A c.3692G>A (p.Gly1231Asp) c.3524G>A (p.Gly1175Asp) | |
| 9 | g.123376923G>C | CA374869679 | CRB2 | c.3719G>C (p.Gly1240Ala) c.2723G>C (p.Gly908Ala) n.2833G>C c.3692G>C (p.Gly1231Ala) c.3524G>C (p.Gly1175Ala) | |
| 9 | g.123376923G>T | CA374869680 | CRB2 | c.3719G>T (p.Gly1240Val) c.2723G>T (p.Gly908Val) n.2833G>T c.3692G>T (p.Gly1231Val) c.3524G>T (p.Gly1175Val) | gnomAD v4 |
| 9 | g.123376924C>A | CA467090307 | CRB2 | c.3720C>A (p.Gly1240=) c.2724C>A (p.Gly908=) n.2834C>A c.3693C>A (p.Gly1231=) c.3525C>A (p.Gly1175=) | |
| 9 | g.123376924C>G | CA467090309 | CRB2 | c.3720C>G (p.Gly1240=) c.2724C>G (p.Gly908=) n.2834C>G c.3693C>G (p.Gly1231=) c.3525C>G (p.Gly1175=) | |
| 9 | g.123376924C>T | CA467090311 | CRB2 | c.3720C>T (p.Gly1240=) c.2724C>T (p.Gly908=) n.2834C>T c.3693C>T (p.Gly1231=) c.3525C>T (p.Gly1175=) | |
| 9 | g.123376925C>A | CA374869681 | CRB2 | c.3721C>A (p.Leu1241Ile) c.2725C>A (p.Leu909Ile) n.2835C>A c.3694C>A (p.Leu1232Ile) c.3526C>A (p.Leu1176Ile) | |
| 9 | g.123376925C= | CA1877946541 | CRB2 | c.3721C= (p.Leu1241=) c.2725C= (p.Leu909=) n.2835C= c.3694C= (p.Leu1232=) c.3526C= (p.Leu1176=) | |
| 9 | g.123376925C>G | CA374869682 | CRB2 | c.3721C>G (p.Leu1241Val) c.2725C>G (p.Leu909Val) n.2835C>G c.3694C>G (p.Leu1232Val) c.3526C>G (p.Leu1176Val) | |
| 9 | g.123376925C>T | CA374869683 | CRB2 | c.3721C>T (p.Leu1241Phe) c.2725C>T (p.Leu909Phe) n.2835C>T c.3694C>T (p.Leu1232Phe) c.3526C>T (p.Leu1176Phe) | dbSNP gnomAD v4 |
| 9 | g.123376926T>A | CA374869684 | CRB2 | c.3722T>A (p.Leu1241His) c.2726T>A (p.Leu909His) n.2836T>A c.3695T>A (p.Leu1232His) c.3527T>A (p.Leu1176His) | |
| 9 | g.123376926T>C | CA374869685 | CRB2 | c.3722T>C (p.Leu1241Pro) c.2726T>C (p.Leu909Pro) n.2836T>C c.3695T>C (p.Leu1232Pro) c.3527T>C (p.Leu1176Pro) | gnomAD v4 |
| 9 | g.123376926T>G | CA374869686 | CRB2 | c.3722T>G (p.Leu1241Arg) c.2726T>G (p.Leu909Arg) n.2836T>G c.3695T>G (p.Leu1232Arg) c.3527T>G (p.Leu1176Arg) | |
| 9 | g.123376927C>A | CA467090325 | CRB2 | c.3723C>A (p.Leu1241=) c.2727C>A (p.Leu909=) n.2837C>A c.3696C>A (p.Leu1232=) c.3528C>A (p.Leu1176=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376927C= | CA1877946548 | CRB2 | c.3723C= (p.Leu1241=) c.2727C= (p.Leu909=) n.2837C= c.3696C= (p.Leu1232=) c.3528C= (p.Leu1176=) | |
| 9 | g.123376927C>G | CA467090327 | CRB2 | c.3723C>G (p.Leu1241=) c.2727C>G (p.Leu909=) n.2837C>G c.3696C>G (p.Leu1232=) c.3528C>G (p.Leu1176=) | |
| 9 | g.123376927C>T | CA467090329 | CRB2 | c.3723C>T (p.Leu1241=) c.2727C>T (p.Leu909=) n.2837C>T c.3696C>T (p.Leu1232=) c.3528C>T (p.Leu1176=) | |
| 9 | g.123376928C>A | CA374869689 | CRB2 | c.3724C>A (p.Leu1242Ile) c.2728C>A (p.Leu910Ile) n.2838C>A c.3697C>A (p.Leu1233Ile) c.3529C>A (p.Leu1177Ile) | |
| 9 | g.123376928C= | CA1877946549 | CRB2 | c.3724C= (p.Leu1242=) c.2728C= (p.Leu910=) n.2838C= c.3697C= (p.Leu1233=) c.3529C= (p.Leu1177=) | |
| 9 | g.123376928C>G | CA374869687 | CRB2 | c.3724C>G (p.Leu1242Val) c.2728C>G (p.Leu910Val) n.2838C>G c.3697C>G (p.Leu1233Val) c.3529C>G (p.Leu1177Val) | |
| 9 | g.123376928C>T | CA374869688 | CRB2 | c.3724C>T (p.Leu1242Phe) c.2728C>T (p.Leu910Phe) n.2838C>T c.3697C>T (p.Leu1233Phe) c.3529C>T (p.Leu1177Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376929T>A | CA374869690 | CRB2 | c.3725T>A (p.Leu1242His) c.2729T>A (p.Leu910His) n.2839T>A c.3698T>A (p.Leu1233His) c.3530T>A (p.Leu1177His) | |
| 9 | g.123376929T>C | CA374869691 | CRB2 | c.3725T>C (p.Leu1242Pro) c.2729T>C (p.Leu910Pro) n.2839T>C c.3698T>C (p.Leu1233Pro) c.3530T>C (p.Leu1177Pro) | |
| 9 | g.123376929T>G | CA374869692 | CRB2 | c.3725T>G (p.Leu1242Arg) c.2729T>G (p.Leu910Arg) n.2839T>G c.3698T>G (p.Leu1233Arg) c.3530T>G (p.Leu1177Arg) | |
| 9 | g.123376930T>A | CA467090343 | CRB2 | c.3726T>A (p.Leu1242=) c.2730T>A (p.Leu910=) n.2840T>A c.3699T>A (p.Leu1233=) c.3531T>A (p.Leu1177=) | |
| 9 | g.123376930T>C | CA467090345 | CRB2 | c.3726T>C (p.Leu1242=) c.2730T>C (p.Leu910=) n.2840T>C c.3699T>C (p.Leu1233=) c.3531T>C (p.Leu1177=) | |
| 9 | g.123376930T>G | CA467090347 | CRB2 | c.3726T>G (p.Leu1242=) c.2730T>G (p.Leu910=) n.2840T>G c.3699T>G (p.Leu1233=) c.3531T>G (p.Leu1177=) | |
| 9 | g.123376931T>A | CA374869693 | CRB2 | c.3727T>A (p.Ser1243Thr) c.2731T>A (p.Ser911Thr) n.2841T>A c.3700T>A (p.Ser1234Thr) c.3532T>A (p.Ser1178Thr) | |
| 9 | g.123376931T>C | CA374869694 | CRB2 | c.3727T>C (p.Ser1243Pro) c.2731T>C (p.Ser911Pro) n.2841T>C c.3700T>C (p.Ser1234Pro) c.3532T>C (p.Ser1178Pro) | |
| 9 | g.123376931T>G | CA374869695 | CRB2 | c.3727T>G (p.Ser1243Ala) c.2731T>G (p.Ser911Ala) n.2841T>G c.3700T>G (p.Ser1234Ala) c.3532T>G (p.Ser1178Ala) | |
| 9 | g.123376931_123376934dup | CA2691592050 | CRB2 | c.3727_3730dup (p.Gly1244ValfsTer13) c.2731_2734dup (p.Gly912ValfsTer13) n.2841_2844dup c.3700_3703dup (p.Gly1235ValfsTer13) c.3532_3535dup (p.Gly1179ValfsTer13) | gnomAD v4 |
| 9 | g.123376932C>A | CA374869696 | CRB2 | c.3728C>A (p.Ser1243Ter) c.2732C>A (p.Ser911Ter) n.2842C>A c.3701C>A (p.Ser1234Ter) c.3533C>A (p.Ser1178Ter) | |
| 9 | g.123376932C>G | CA374869697 | CRB2 | c.3728C>G (p.Ser1243Ter) c.2732C>G (p.Ser911Ter) n.2842C>G c.3701C>G (p.Ser1234Ter) c.3533C>G (p.Ser1178Ter) | |
| 9 | g.123376932C>T | CA374869698 | CRB2 | c.3728C>T (p.Ser1243Leu) c.2732C>T (p.Ser911Leu) n.2842C>T c.3701C>T (p.Ser1234Leu) c.3533C>T (p.Ser1178Leu) | |
| 9 | g.123376933A>C | CA467090364 | CRB2 | c.3729A>C (p.Ser1243=) c.2733A>C (p.Ser911=) n.2843A>C c.3702A>C (p.Ser1234=) c.3534A>C (p.Ser1178=) | |
| 9 | g.123376933A>G | CA467090370 | CRB2 | c.3729A>G (p.Ser1243=) c.2733A>G (p.Ser911=) n.2843A>G c.3702A>G (p.Ser1234=) c.3534A>G (p.Ser1178=) | gnomAD v4 |
| 9 | g.123376933A>T | CA467090367 | CRB2 | c.3729A>T (p.Ser1243=) c.2733A>T (p.Ser911=) n.2843A>T c.3702A>T (p.Ser1234=) c.3534A>T (p.Ser1178=) | |
| 9 | g.123376934G>A | CA374869699 | CRB2 | c.3730G>A (p.Gly1244Arg) c.2734G>A (p.Gly912Arg) n.2844G>A c.3703G>A (p.Gly1235Arg) c.3535G>A (p.Gly1179Arg) | |
| 9 | g.123376934G>C | CA5232603 | CRB2 | c.3730G>C (p.Gly1244Arg) c.2734G>C (p.Gly912Arg) n.2844G>C c.3703G>C (p.Gly1235Arg) c.3535G>C (p.Gly1179Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376934G= | CA1877946552 | CRB2 | c.3730G= (p.Gly1244=) c.2734G= (p.Gly912=) n.2844G= c.3703G= (p.Gly1235=) c.3535G= (p.Gly1179=) | |
| 9 | g.123376934G>T | CA374869700 | CRB2 | c.3730G>T (p.Gly1244Trp) c.2734G>T (p.Gly912Trp) n.2844G>T c.3703G>T (p.Gly1235Trp) c.3535G>T (p.Gly1179Trp) | |
| 9 | g.123376935G>A | CA374869701 | CRB2 | c.3731G>A (p.Gly1244Glu) c.2735G>A (p.Gly912Glu) n.2845G>A c.3704G>A (p.Gly1235Glu) c.3536G>A (p.Gly1179Glu) | |
| 9 | g.123376935G>C | CA374869703 | CRB2 | c.3731G>C (p.Gly1244Ala) c.2735G>C (p.Gly912Ala) n.2845G>C c.3704G>C (p.Gly1235Ala) c.3536G>C (p.Gly1179Ala) | |
| 9 | g.123376935G>T | CA374869702 | CRB2 | c.3731G>T (p.Gly1244Val) c.2735G>T (p.Gly912Val) n.2845G>T c.3704G>T (p.Gly1235Val) c.3536G>T (p.Gly1179Val) | |
| 9 | g.123376936G>A | CA467090385 | CRB2 | c.3732G>A (p.Gly1244=) c.2736G>A (p.Gly912=) n.2846G>A c.3705G>A (p.Gly1235=) c.3537G>A (p.Gly1179=) | gnomAD v4 |
| 9 | g.123376936G>C | CA467090387 | CRB2 | c.3732G>C (p.Gly1244=) c.2736G>C (p.Gly912=) n.2846G>C c.3705G>C (p.Gly1235=) c.3537G>C (p.Gly1179=) | |
| 9 | g.123376936G= | CA1877946555 | CRB2 | c.3732G= (p.Gly1244=) c.2736G= (p.Gly912=) n.2846G= c.3705G= (p.Gly1235=) c.3537G= (p.Gly1179=) | |
| 9 | g.123376936G>T | CA467090390 | CRB2 | c.3732G>T (p.Gly1244=) c.2736G>T (p.Gly912=) n.2846G>T c.3705G>T (p.Gly1235=) c.3537G>T (p.Gly1179=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376937A>C | CA374869704 | CRB2 | c.3733A>C (p.Ile1245Leu) c.2737A>C (p.Ile913Leu) n.2847A>C c.3706A>C (p.Ile1236Leu) c.3538A>C (p.Ile1180Leu) | |
| 9 | g.123376937A>G | CA374869706 | CRB2 | c.3733A>G (p.Ile1245Val) c.2737A>G (p.Ile913Val) n.2847A>G c.3706A>G (p.Ile1236Val) c.3538A>G (p.Ile1180Val) | |
| 9 | g.123376937A>T | CA374869705 | CRB2 | c.3733A>T (p.Ile1245Phe) c.2737A>T (p.Ile913Phe) n.2847A>T c.3706A>T (p.Ile1236Phe) c.3538A>T (p.Ile1180Phe) | |
| 9 | g.123376938T>A | CA374869707 | CRB2 | c.3734T>A (p.Ile1245Asn) c.2738T>A (p.Ile913Asn) n.2848T>A c.3707T>A (p.Ile1236Asn) c.3539T>A (p.Ile1180Asn) | dbSNP |
| 9 | g.123376938T>C | CA374869708 | CRB2 | c.3734T>C (p.Ile1245Thr) c.2738T>C (p.Ile913Thr) n.2848T>C c.3707T>C (p.Ile1236Thr) c.3539T>C (p.Ile1180Thr) | |
| 9 | g.123376938T>G | CA374869709 | CRB2 | c.3734T>G (p.Ile1245Ser) c.2738T>G (p.Ile913Ser) n.2848T>G c.3707T>G (p.Ile1236Ser) c.3539T>G (p.Ile1180Ser) | COSMIC |
| 9 | g.123376938T= | CA1877946570 | CRB2 | c.3734T= (p.Ile1245=) c.2738T= (p.Ile913=) n.2848T= c.3707T= (p.Ile1236=) c.3539T= (p.Ile1180=) | |
| 9 | g.123376939C>A | CA467090406 | CRB2 | c.3735C>A (p.Ile1245=) c.2739C>A (p.Ile913=) n.2849C>A c.3708C>A (p.Ile1236=) c.3540C>A (p.Ile1180=) | gnomAD v4 |
| 9 | g.123376939C= | CA1877946576 | CRB2 | c.3735C= (p.Ile1245=) c.2739C= (p.Ile913=) n.2849C= c.3708C= (p.Ile1236=) c.3540C= (p.Ile1180=) | |
| 9 | g.123376939C>G | CA374869710 | CRB2 | c.3735C>G (p.Ile1245Met) c.2739C>G (p.Ile913Met) n.2849C>G c.3708C>G (p.Ile1236Met) c.3540C>G (p.Ile1180Met) | dbSNP |
| 9 | g.123376939C>T | CA5232604 | CRB2 | c.3735C>T (p.Ile1245=) c.2739C>T (p.Ile913=) n.2849C>T c.3708C>T (p.Ile1236=) c.3540C>T (p.Ile1180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376940C>A | CA374869711 | CRB2 | c.3736C>A (p.Leu1246Met) c.2740C>A (p.Leu914Met) n.2850C>A c.3709C>A (p.Leu1237Met) c.3541C>A (p.Leu1181Met) | |
| 9 | g.123376940C>G | CA374869712 | CRB2 | c.3736C>G (p.Leu1246Val) c.2740C>G (p.Leu914Val) n.2850C>G c.3709C>G (p.Leu1237Val) c.3541C>G (p.Leu1181Val) | |
| 9 | g.123376940C>T | CA467090416 | CRB2 | c.3736C>T (p.Leu1246=) c.2740C>T (p.Leu914=) n.2850C>T c.3709C>T (p.Leu1237=) c.3541C>T (p.Leu1181=) | gnomAD v4 |
| 9 | g.123376941T>A | CA374869713 | CRB2 | c.3737T>A (p.Leu1246Gln) c.2741T>A (p.Leu914Gln) n.2851T>A c.3710T>A (p.Leu1237Gln) c.3542T>A (p.Leu1181Gln) | |
| 9 | g.123376941T>C | CA374869714 | CRB2 | c.3737T>C (p.Leu1246Pro) c.2741T>C (p.Leu914Pro) n.2851T>C c.3710T>C (p.Leu1237Pro) c.3542T>C (p.Leu1181Pro) | |
| 9 | g.123376941T>G | CA374869715 | CRB2 | c.3737T>G (p.Leu1246Arg) c.2741T>G (p.Leu914Arg) n.2851T>G c.3710T>G (p.Leu1237Arg) c.3542T>G (p.Leu1181Arg) | |
| 9 | g.123376942G>A | CA467090432 | CRB2 | c.3738G>A (p.Leu1246=) c.2742G>A (p.Leu914=) n.2852G>A c.3711G>A (p.Leu1237=) c.3543G>A (p.Leu1181=) | |
| 9 | g.123376942G>C | CA5232605 | CRB2 | c.3738G>C (p.Leu1246=) c.2742G>C (p.Leu914=) n.2852G>C c.3711G>C (p.Leu1237=) c.3543G>C (p.Leu1181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376942G= | CA1877946587 | CRB2 | c.3738G= (p.Leu1246=) c.2742G= (p.Leu914=) n.2852G= c.3711G= (p.Leu1237=) c.3543G= (p.Leu1181=) | |
| 9 | g.123376942G>T | CA467090437 | CRB2 | c.3738G>T (p.Leu1246=) c.2742G>T (p.Leu914=) n.2852G>T c.3711G>T (p.Leu1237=) c.3543G>T (p.Leu1181=) | |
| 9 | g.123376943G>A | CA374869718 | CRB2 | c.3739G>A (p.Ala1247Thr) c.2743G>A (p.Ala915Thr) n.2853G>A c.3712G>A (p.Ala1238Thr) c.3544G>A (p.Ala1182Thr) | gnomAD v4 |
| 9 | g.123376943G>C | CA374869716 | CRB2 | c.3739G>C (p.Ala1247Pro) c.2743G>C (p.Ala915Pro) n.2853G>C c.3712G>C (p.Ala1238Pro) c.3544G>C (p.Ala1182Pro) | |
| 9 | g.123376943G>T | CA374869717 | CRB2 | c.3739G>T (p.Ala1247Ser) c.2743G>T (p.Ala915Ser) n.2853G>T c.3712G>T (p.Ala1238Ser) c.3544G>T (p.Ala1182Ser) | |
| 9 | g.123376944C>A | CA374869719 | CRB2 | c.3740C>A (p.Ala1247Glu) c.2744C>A (p.Ala915Glu) n.2854C>A c.3713C>A (p.Ala1238Glu) c.3545C>A (p.Ala1182Glu) | |
| 9 | g.123376944C>G | CA374869720 | CRB2 | c.3740C>G (p.Ala1247Gly) c.2744C>G (p.Ala915Gly) n.2854C>G c.3713C>G (p.Ala1238Gly) c.3545C>G (p.Ala1182Gly) | |
| 9 | g.123376944C>T | CA374869721 | CRB2 | c.3740C>T (p.Ala1247Val) c.2744C>T (p.Ala915Val) n.2854C>T c.3713C>T (p.Ala1238Val) c.3545C>T (p.Ala1182Val) | |
| 9 | g.123376945A>C | CA467090454 | CRB2 | c.3741A>C (p.Ala1247=) c.2745A>C (p.Ala915=) n.2855A>C c.3714A>C (p.Ala1238=) c.3546A>C (p.Ala1182=) | |
| 9 | g.123376945A>G | CA467090456 | CRB2 | c.3741A>G (p.Ala1247=) c.2745A>G (p.Ala915=) n.2855A>G c.3714A>G (p.Ala1238=) c.3546A>G (p.Ala1182=) | gnomAD v4 |
| 9 | g.123376945A>T | CA467090458 | CRB2 | c.3741A>T (p.Ala1247=) c.2745A>T (p.Ala915=) n.2855A>T c.3714A>T (p.Ala1238=) c.3546A>T (p.Ala1182=) | |
| 9 | g.123376946G>A | CA374869722 | CRB2 | c.3742G>A (p.Ala1248Thr) c.2746G>A (p.Ala916Thr) n.2856G>A c.3715G>A (p.Ala1239Thr) c.3547G>A (p.Ala1183Thr) | dbSNP gnomAD v2 |
| 9 | g.123376946G>C | CA374869723 | CRB2 | c.3742G>C (p.Ala1248Pro) c.2746G>C (p.Ala916Pro) n.2856G>C c.3715G>C (p.Ala1239Pro) c.3547G>C (p.Ala1183Pro) | |
| 9 | g.123376946G= | CA1877946594 | CRB2 | c.3742G= (p.Ala1248=) c.2746G= (p.Ala916=) n.2856G= c.3715G= (p.Ala1239=) c.3547G= (p.Ala1183=) | |
| 9 | g.123376946G>T | CA374869724 | CRB2 | c.3742G>T (p.Ala1248Ser) c.2746G>T (p.Ala916Ser) n.2856G>T c.3715G>T (p.Ala1239Ser) c.3547G>T (p.Ala1183Ser) | gnomAD v4 |
| 9 | g.123376947C>A | CA374869725 | CRB2 | c.3743C>A (p.Ala1248Asp) c.2747C>A (p.Ala916Asp) n.2857C>A c.3716C>A (p.Ala1239Asp) c.3548C>A (p.Ala1183Asp) | |
| 9 | g.123376947C>G | CA374869726 | CRB2 | c.3743C>G (p.Ala1248Gly) c.2747C>G (p.Ala916Gly) n.2857C>G c.3716C>G (p.Ala1239Gly) c.3548C>G (p.Ala1183Gly) | |
| 9 | g.123376947C>T | CA374869727 | CRB2 | c.3743C>T (p.Ala1248Val) c.2747C>T (p.Ala916Val) n.2857C>T c.3716C>T (p.Ala1239Val) c.3548C>T (p.Ala1183Val) | gnomAD v4 |
| 9 | g.123376948C>A | CA467090479 | CRB2 | c.3744C>A (p.Ala1248=) c.2748C>A (p.Ala916=) n.2858C>A c.3717C>A (p.Ala1239=) c.3549C>A (p.Ala1183=) | |
| 9 | g.123376948C>G | CA467090481 | CRB2 | c.3744C>G (p.Ala1248=) c.2748C>G (p.Ala916=) n.2858C>G c.3717C>G (p.Ala1239=) c.3549C>G (p.Ala1183=) | |
| 9 | g.123376948C>T | CA467090483 | CRB2 | c.3744C>T (p.Ala1248=) c.2748C>T (p.Ala916=) n.2858C>T c.3717C>T (p.Ala1239=) c.3549C>T (p.Ala1183=) | |
| 9 | g.123376949C>A | CA467090490 | CRB2 | c.3745C>A (p.Arg1249=) c.2749C>A (p.Arg917=) n.2859C>A c.3718C>A (p.Arg1240=) c.3550C>A (p.Arg1184=) | gnomAD v4 |
| 9 | g.123376949C= | CA1877946597 | CRB2 | c.3745C= (p.Arg1249=) c.2749C= (p.Arg917=) n.2859C= c.3718C= (p.Arg1240=) c.3550C= (p.Arg1184=) | |
| 9 | g.123376949C>G | CA374869728 | CRB2 | c.3745C>G (p.Arg1249Gly) c.2749C>G (p.Arg917Gly) n.2859C>G c.3718C>G (p.Arg1240Gly) c.3550C>G (p.Arg1184Gly) | |
| 9 | g.123376949C>T | CA374869729 | CRB2 | c.3745C>T (p.Arg1249Ter) c.2749C>T (p.Arg917Ter) n.2859C>T c.3718C>T (p.Arg1240Ter) c.3550C>T (p.Arg1184Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376950G>A | CA185951 | CRB2 | c.3746G>A (p.Arg1249Gln) c.2750G>A (p.Arg917Gln) n.2860G>A c.3719G>A (p.Arg1240Gln) c.3551G>A (p.Arg1184Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376950G>C | CA199643076 | CRB2 | c.3746G>C (p.Arg1249Pro) c.2750G>C (p.Arg917Pro) n.2860G>C c.3719G>C (p.Arg1240Pro) c.3551G>C (p.Arg1184Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376950G= | CA1877946604 | CRB2 | c.3746G= (p.Arg1249=) c.2750G= (p.Arg917=) n.2860G= c.3719G= (p.Arg1240=) c.3551G= (p.Arg1184=) | |
| 9 | g.123376950G>T | CA374869730 | CRB2 | c.3746G>T (p.Arg1249Leu) c.2750G>T (p.Arg917Leu) n.2860G>T c.3719G>T (p.Arg1240Leu) c.3551G>T (p.Arg1184Leu) | |
| 9 | g.123376951A= | CA1877946614 | CRB2 | c.3747A= (p.Arg1249=) c.2751A= (p.Arg917=) n.2861A= c.3720A= (p.Arg1240=) c.3552A= (p.Arg1184=) | |
| 9 | g.123376951A>C | CA467090497 | CRB2 | c.3747A>C (p.Arg1249=) c.2751A>C (p.Arg917=) n.2861A>C c.3720A>C (p.Arg1240=) c.3552A>C (p.Arg1184=) | |
| 9 | g.123376951A>G | CA467090499 | CRB2 | c.3747A>G (p.Arg1249=) c.2751A>G (p.Arg917=) n.2861A>G c.3720A>G (p.Arg1240=) c.3552A>G (p.Arg1184=) | gnomAD v4 |
| 9 | g.123376951A>T | CA467090501 | CRB2 | c.3747A>T (p.Arg1249=) c.2751A>T (p.Arg917=) n.2861A>T c.3720A>T (p.Arg1240=) c.3552A>T (p.Arg1184=) | dbSNP gnomAD v4 |
| 9 | g.123376952A>C | CA374869731 | CRB2 | c.3748A>C (p.Lys1250Gln) c.2752A>C (p.Lys918Gln) n.2862A>C c.3721A>C (p.Lys1241Gln) c.3553A>C (p.Lys1185Gln) | |
| 9 | g.123376952A>G | CA374869732 | CRB2 | c.3748A>G (p.Lys1250Glu) c.2752A>G (p.Lys918Glu) n.2862A>G c.3721A>G (p.Lys1241Glu) c.3553A>G (p.Lys1185Glu) | |
| 9 | g.123376952A>T | CA374869733 | CRB2 | c.3748A>T (p.Lys1250Ter) c.2752A>T (p.Lys918Ter) n.2862A>T c.3721A>T (p.Lys1241Ter) c.3553A>T (p.Lys1185Ter) | |
| 9 | g.123376953A>C | CA374869734 | CRB2 | c.3749A>C (p.Lys1250Thr) c.2753A>C (p.Lys918Thr) n.2863A>C c.3722A>C (p.Lys1241Thr) c.3554A>C (p.Lys1185Thr) | |
| 9 | g.123376953A>G | CA374869735 | CRB2 | c.3749A>G (p.Lys1250Arg) c.2753A>G (p.Lys918Arg) n.2863A>G c.3722A>G (p.Lys1241Arg) c.3554A>G (p.Lys1185Arg) | |
| 9 | g.123376953A>T | CA374869736 | CRB2 | c.3749A>T (p.Lys1250Met) c.2753A>T (p.Lys918Met) n.2863A>T c.3722A>T (p.Lys1241Met) c.3554A>T (p.Lys1185Met) | |
| 9 | g.123376954G>A | CA467090519 | CRB2 | c.3750G>A (p.Lys1250=) c.2754G>A (p.Lys918=) n.2864G>A c.3723G>A (p.Lys1241=) c.3555G>A (p.Lys1185=) | |
| 9 | g.123376954G>C | CA374869738 | CRB2 | c.3750G>C (p.Lys1250Asn) c.2754G>C (p.Lys918Asn) n.2864G>C c.3723G>C (p.Lys1241Asn) c.3555G>C (p.Lys1185Asn) | |
| 9 | g.123376954G>T | CA374869737 | CRB2 | c.3750G>T (p.Lys1250Asn) c.2754G>T (p.Lys918Asn) n.2864G>T c.3723G>T (p.Lys1241Asn) c.3555G>T (p.Lys1185Asn) | |
| 9 | g.123376955C>A | CA374869739 | CRB2 | c.3751C>A (p.Arg1251Ser) c.2755C>A (p.Arg919Ser) n.2865C>A c.3724C>A (p.Arg1242Ser) c.3556C>A (p.Arg1186Ser) | |
| 9 | g.123376955C= | CA1877946620 | CRB2 | c.3751C= (p.Arg1251=) c.2755C= (p.Arg919=) n.2865C= c.3724C= (p.Arg1242=) c.3556C= (p.Arg1186=) | |
| 9 | g.123376955C>G | CA374869740 | CRB2 | c.3751C>G (p.Arg1251Gly) c.2755C>G (p.Arg919Gly) n.2865C>G c.3724C>G (p.Arg1242Gly) c.3556C>G (p.Arg1186Gly) | |
| 9 | g.123376955C>T | CA5232606 | CRB2 | c.3751C>T (p.Arg1251Cys) c.2755C>T (p.Arg919Cys) n.2865C>T c.3724C>T (p.Arg1242Cys) c.3556C>T (p.Arg1186Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376956G>A | CA5232607 | CRB2 | c.3752G>A (p.Arg1251His) c.2756G>A (p.Arg919His) n.2866G>A c.3725G>A (p.Arg1242His) c.3557G>A (p.Arg1186His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376956G>C | CA374869741 | CRB2 | c.3752G>C (p.Arg1251Pro) c.2756G>C (p.Arg919Pro) n.2866G>C c.3725G>C (p.Arg1242Pro) c.3557G>C (p.Arg1186Pro) | |
| 9 | g.123376956G= | CA1877946624 | CRB2 | c.3752G= (p.Arg1251=) c.2756G= (p.Arg919=) n.2866G= c.3725G= (p.Arg1242=) c.3557G= (p.Arg1186=) | |
| 9 | g.123376956G>T | CA374869742 | CRB2 | c.3752G>T (p.Arg1251Leu) c.2756G>T (p.Arg919Leu) n.2866G>T c.3725G>T (p.Arg1242Leu) c.3557G>T (p.Arg1186Leu) | |
| 9 | g.123376957C>A | CA467090540 | CRB2 | c.3753C>A (p.Arg1251=) c.2757C>A (p.Arg919=) n.2867C>A c.3726C>A (p.Arg1242=) c.3558C>A (p.Arg1186=) | |
| 9 | g.123376957C>G | CA467090538 | CRB2 | c.3753C>G (p.Arg1251=) c.2757C>G (p.Arg919=) n.2867C>G c.3726C>G (p.Arg1242=) c.3558C>G (p.Arg1186=) | |
| 9 | g.123376957C>T | CA467090535 | CRB2 | c.3753C>T (p.Arg1251=) c.2757C>T (p.Arg919=) n.2867C>T c.3726C>T (p.Arg1242=) c.3558C>T (p.Arg1186=) |