| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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=) | |
| 9 | g.123376958C>A | CA374869743 | CRB2 | c.3754C>A (p.Arg1252Ser) c.2758C>A (p.Arg920Ser) n.2868C>A c.3727C>A (p.Arg1243Ser) c.3559C>A (p.Arg1187Ser) | |
| 9 | g.123376958C= | CA1877946629 | CRB2 | c.3754C= (p.Arg1252=) c.2758C= (p.Arg920=) n.2868C= c.3727C= (p.Arg1243=) c.3559C= (p.Arg1187=) | |
| 9 | g.123376958C>G | CA374869744 | CRB2 | c.3754C>G (p.Arg1252Gly) c.2758C>G (p.Arg920Gly) n.2868C>G c.3727C>G (p.Arg1243Gly) c.3559C>G (p.Arg1187Gly) | |
| 9 | g.123376958C>T | CA5232608 | CRB2 | c.3754C>T (p.Arg1252Cys) c.2758C>T (p.Arg920Cys) n.2868C>T c.3727C>T (p.Arg1243Cys) c.3559C>T (p.Arg1187Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376959G>A | CA5232609 | CRB2 | c.3755G>A (p.Arg1252His) c.2759G>A (p.Arg920His) n.2869G>A c.3728G>A (p.Arg1243His) c.3560G>A (p.Arg1187His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376959G>C | CA374869745 | CRB2 | c.3755G>C (p.Arg1252Pro) c.2759G>C (p.Arg920Pro) n.2869G>C c.3728G>C (p.Arg1243Pro) c.3560G>C (p.Arg1187Pro) | |
| 9 | g.123376959G= | CA1877946633 | CRB2 | c.3755G= (p.Arg1252=) c.2759G= (p.Arg920=) n.2869G= c.3728G= (p.Arg1243=) c.3560G= (p.Arg1187=) | |
| 9 | g.123376959G>T | CA374869746 | CRB2 | c.3755G>T (p.Arg1252Leu) c.2759G>T (p.Arg920Leu) n.2869G>T c.3728G>T (p.Arg1243Leu) c.3560G>T (p.Arg1187Leu) | gnomAD v4 |
| 9 | g.123376960C>A | CA467090554 | CRB2 | c.3756C>A (p.Arg1252=) c.2760C>A (p.Arg920=) n.2870C>A c.3729C>A (p.Arg1243=) c.3561C>A (p.Arg1187=) | |
| 9 | g.123376960C>G | CA467090560 | CRB2 | c.3756C>G (p.Arg1252=) c.2760C>G (p.Arg920=) n.2870C>G c.3729C>G (p.Arg1243=) c.3561C>G (p.Arg1187=) | |
| 9 | g.123376960C>T | CA467090557 | CRB2 | c.3756C>T (p.Arg1252=) c.2760C>T (p.Arg920=) n.2870C>T c.3729C>T (p.Arg1243=) c.3561C>T (p.Arg1187=) | |
| 9 | g.123376961C>A | CA374869747 | CRB2 | c.3757C>A (p.Gln1253Lys) c.2761C>A (p.Gln921Lys) n.2871C>A c.3730C>A (p.Gln1244Lys) c.3562C>A (p.Gln1188Lys) | |
| 9 | g.123376961C>G | CA374869748 | CRB2 | c.3757C>G (p.Gln1253Glu) c.2761C>G (p.Gln921Glu) n.2871C>G c.3730C>G (p.Gln1244Glu) c.3562C>G (p.Gln1188Glu) | |
| 9 | g.123376961C>T | CA374869749 | CRB2 | c.3757C>T (p.Gln1253Ter) c.2761C>T (p.Gln921Ter) n.2871C>T c.3730C>T (p.Gln1244Ter) c.3562C>T (p.Gln1188Ter) | gnomAD v4 |
| 9 | g.123376962A= | CA1877946636 | CRB2 | c.3758A= (p.Gln1253=) c.2762A= (p.Gln921=) n.2872A= c.3731A= (p.Gln1244=) c.3563A= (p.Gln1188=) | |
| 9 | g.123376962A>C | CA374869750 | CRB2 | c.3758A>C (p.Gln1253Pro) c.2762A>C (p.Gln921Pro) n.2872A>C c.3731A>C (p.Gln1244Pro) c.3563A>C (p.Gln1188Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376962A>G | CA374869751 | CRB2 | c.3758A>G (p.Gln1253Arg) c.2762A>G (p.Gln921Arg) n.2872A>G c.3731A>G (p.Gln1244Arg) c.3563A>G (p.Gln1188Arg) | gnomAD v4 |
| 9 | g.123376962A>T | CA374869752 | CRB2 | c.3758A>T (p.Gln1253Leu) c.2762A>T (p.Gln921Leu) n.2872A>T c.3731A>T (p.Gln1244Leu) c.3563A>T (p.Gln1188Leu) | |
| 9 | g.123376963G>A | CA467090572 | CRB2 | c.3759G>A (p.Gln1253=) c.2763G>A (p.Gln921=) n.2873G>A c.3732G>A (p.Gln1244=) c.3564G>A (p.Gln1188=) | |
| 9 | g.123376963G>C | CA374869753 | CRB2 | c.3759G>C (p.Gln1253His) c.2763G>C (p.Gln921His) n.2873G>C c.3732G>C (p.Gln1244His) c.3564G>C (p.Gln1188His) | |
| 9 | g.123376963G>T | CA374869754 | CRB2 | c.3759G>T (p.Gln1253His) c.2763G>T (p.Gln921His) n.2873G>T c.3732G>T (p.Gln1244His) c.3564G>T (p.Gln1188His) | |
| 9 | g.123376964T>A | CA374869755 | CRB2 | c.3760T>A (p.Ser1254Thr) c.2764T>A (p.Ser922Thr) n.2874T>A c.3733T>A (p.Ser1245Thr) c.3565T>A (p.Ser1189Thr) | gnomAD v4 |
| 9 | g.123376964T>C | CA374869757 | CRB2 | c.3760T>C (p.Ser1254Pro) c.2764T>C (p.Ser922Pro) n.2874T>C c.3733T>C (p.Ser1245Pro) c.3565T>C (p.Ser1189Pro) | |
| 9 | g.123376964T>G | CA374869756 | CRB2 | c.3760T>G (p.Ser1254Ala) c.2764T>G (p.Ser922Ala) n.2874T>G c.3733T>G (p.Ser1245Ala) c.3565T>G (p.Ser1189Ala) | |
| 9 | g.123376965C>A | CA374869758 | CRB2 | c.3761C>A (p.Ser1254Tyr) c.2765C>A (p.Ser922Tyr) n.2875C>A c.3734C>A (p.Ser1245Tyr) c.3566C>A (p.Ser1189Tyr) | |
| 9 | g.123376965C= | CA1877946638 | CRB2 | c.3761C= (p.Ser1254=) c.2765C= (p.Ser922=) n.2875C= c.3734C= (p.Ser1245=) c.3566C= (p.Ser1189=) | |
| 9 | g.123376965C>G | CA374869760 | CRB2 | c.3761C>G (p.Ser1254Cys) c.2765C>G (p.Ser922Cys) n.2875C>G c.3734C>G (p.Ser1245Cys) c.3566C>G (p.Ser1189Cys) | dbSNP |
| 9 | g.123376965C>T | CA374869759 | CRB2 | c.3761C>T (p.Ser1254Phe) c.2765C>T (p.Ser922Phe) n.2875C>T c.3734C>T (p.Ser1245Phe) c.3566C>T (p.Ser1189Phe) | |
| 9 | g.123376966T>A | CA467090587 | CRB2 | c.3762T>A (p.Ser1254=) c.2766T>A (p.Ser922=) n.2876T>A c.3735T>A (p.Ser1245=) c.3567T>A (p.Ser1189=) | |
| 9 | g.123376966T>C | CA467090590 | CRB2 | c.3762T>C (p.Ser1254=) c.2766T>C (p.Ser922=) n.2876T>C c.3735T>C (p.Ser1245=) c.3567T>C (p.Ser1189=) | gnomAD v4 |
| 9 | g.123376966T>G | CA467090592 | CRB2 | c.3762T>G (p.Ser1254=) c.2766T>G (p.Ser922=) n.2876T>G c.3735T>G (p.Ser1245=) c.3567T>G (p.Ser1189=) | |
| 9 | g.123376967G>A | CA199643087 | CRB2 | c.3763G>A (p.Glu1255Lys) c.2767G>A (p.Glu923Lys) n.2877G>A c.3736G>A (p.Glu1246Lys) c.3568G>A (p.Glu1190Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376967G>C | CA374869762 | CRB2 | c.3763G>C (p.Glu1255Gln) c.2767G>C (p.Glu923Gln) n.2877G>C c.3736G>C (p.Glu1246Gln) c.3568G>C (p.Glu1190Gln) | |
| 9 | g.123376967G= | CA1877946643 | CRB2 | c.3763G= (p.Glu1255=) c.2767G= (p.Glu923=) n.2877G= c.3736G= (p.Glu1246=) c.3568G= (p.Glu1190=) | |
| 9 | g.123376967G>T | CA374869761 | CRB2 | c.3763G>T (p.Glu1255Ter) c.2767G>T (p.Glu923Ter) n.2877G>T c.3736G>T (p.Glu1246Ter) c.3568G>T (p.Glu1190Ter) | |
| 9 | g.123376968A>C | CA374869763 | CRB2 | c.3764A>C (p.Glu1255Ala) c.2768A>C (p.Glu923Ala) n.2878A>C c.3737A>C (p.Glu1246Ala) c.3569A>C (p.Glu1190Ala) | |
| 9 | g.123376968A>G | CA374869764 | CRB2 | c.3764A>G (p.Glu1255Gly) c.2768A>G (p.Glu923Gly) n.2878A>G c.3737A>G (p.Glu1246Gly) c.3569A>G (p.Glu1190Gly) | |
| 9 | g.123376968A>T | CA374869765 | CRB2 | c.3764A>T (p.Glu1255Val) c.2768A>T (p.Glu923Val) n.2878A>T c.3737A>T (p.Glu1246Val) c.3569A>T (p.Glu1190Val) | |
| 9 | g.123376969G>A | CA467090607 | CRB2 | c.3765G>A (p.Glu1255=) c.2769G>A (p.Glu923=) n.2879G>A c.3738G>A (p.Glu1246=) c.3570G>A (p.Glu1190=) | |
| 9 | g.123376969G>C | CA374869766 | CRB2 | c.3765G>C (p.Glu1255Asp) c.2769G>C (p.Glu923Asp) n.2879G>C c.3738G>C (p.Glu1246Asp) c.3570G>C (p.Glu1190Asp) | |
| 9 | g.123376969G>T | CA374869767 | CRB2 | c.3765G>T (p.Glu1255Asp) c.2769G>T (p.Glu923Asp) n.2879G>T c.3738G>T (p.Glu1246Asp) c.3570G>T (p.Glu1190Asp) | |
| 9 | g.123376970G>A | CA199643090 | CRB2 | c.3766G>A (p.Gly1256Ser) c.2770G>A (p.Gly924Ser) n.2880G>A c.3739G>A (p.Gly1247Ser) c.3571G>A (p.Gly1191Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376970G>C | CA374869768 | CRB2 | c.3766G>C (p.Gly1256Arg) c.2770G>C (p.Gly924Arg) n.2880G>C c.3739G>C (p.Gly1247Arg) c.3571G>C (p.Gly1191Arg) | |
| 9 | g.123376970G= | CA1877946647 | CRB2 | c.3766G= (p.Gly1256=) c.2770G= (p.Gly924=) n.2880G= c.3739G= (p.Gly1247=) c.3571G= (p.Gly1191=) | |
| 9 | g.123376970G>T | CA374869769 | CRB2 | c.3766G>T (p.Gly1256Cys) c.2770G>T (p.Gly924Cys) n.2880G>T c.3739G>T (p.Gly1247Cys) c.3571G>T (p.Gly1191Cys) | |
| 9 | g.123376971G>A | CA374869770 | CRB2 | c.3767G>A (p.Gly1256Asp) c.2771G>A (p.Gly924Asp) n.2881G>A c.3740G>A (p.Gly1247Asp) c.3572G>A (p.Gly1191Asp) | |
| 9 | g.123376971G>C | CA374869771 | CRB2 | c.3767G>C (p.Gly1256Ala) c.2771G>C (p.Gly924Ala) n.2881G>C c.3740G>C (p.Gly1247Ala) c.3572G>C (p.Gly1191Ala) | |
| 9 | g.123376971G= | CA1877946651 | CRB2 | c.3767G= (p.Gly1256=) c.2771G= (p.Gly924=) n.2881G= c.3740G= (p.Gly1247=) c.3572G= (p.Gly1191=) | |
| 9 | g.123376971G>T | CA374869772 | CRB2 | c.3767G>T (p.Gly1256Val) c.2771G>T (p.Gly924Val) n.2881G>T c.3740G>T (p.Gly1247Val) c.3572G>T (p.Gly1191Val) | dbSNP gnomAD v4 |
| 9 | g.123376972C>A | CA467090625 | CRB2 | c.3768C>A (p.Gly1256=) c.2772C>A (p.Gly924=) n.2882C>A c.3741C>A (p.Gly1247=) c.3573C>A (p.Gly1191=) | gnomAD v4 |
| 9 | g.123376972C= | CA1877946654 | CRB2 | c.3768C= (p.Gly1256=) c.2772C= (p.Gly924=) n.2882C= c.3741C= (p.Gly1247=) c.3573C= (p.Gly1191=) | |
| 9 | g.123376972C>G | CA467090627 | CRB2 | c.3768C>G (p.Gly1256=) c.2772C>G (p.Gly924=) n.2882C>G c.3741C>G (p.Gly1247=) c.3573C>G (p.Gly1191=) | |
| 9 | g.123376972C>T | CA5232610 | CRB2 | c.3768C>T (p.Gly1256=) c.2772C>T (p.Gly924=) n.2882C>T c.3741C>T (p.Gly1247=) c.3573C>T (p.Gly1191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376973A= | CA1877946657 | CRB2 | c.3769A= (p.Thr1257=) c.2773A= (p.Thr925=) n.2883A= c.3742A= (p.Thr1248=) c.3574A= (p.Thr1192=) | |
| 9 | g.123376973A>C | CA374869773 | CRB2 | c.3769A>C (p.Thr1257Pro) c.2773A>C (p.Thr925Pro) n.2883A>C c.3742A>C (p.Thr1248Pro) c.3574A>C (p.Thr1192Pro) | |
| 9 | g.123376973A>G | CA374869775 | CRB2 | c.3769A>G (p.Thr1257Ala) c.2773A>G (p.Thr925Ala) n.2883A>G c.3742A>G (p.Thr1248Ala) c.3574A>G (p.Thr1192Ala) | dbSNP |
| 9 | g.123376973A>T | CA374869774 | CRB2 | c.3769A>T (p.Thr1257Ser) c.2773A>T (p.Thr925Ser) n.2883A>T c.3742A>T (p.Thr1248Ser) c.3574A>T (p.Thr1192Ser) | |
| 9 | g.123376974C>A | CA374869776 | CRB2 | c.3770C>A (p.Thr1257Asn) c.2774C>A (p.Thr925Asn) n.2884C>A c.3743C>A (p.Thr1248Asn) c.3575C>A (p.Thr1192Asn) | dbSNP |
| 9 | g.123376974C= | CA1877946660 | CRB2 | c.3770C= (p.Thr1257=) c.2774C= (p.Thr925=) n.2884C= c.3743C= (p.Thr1248=) c.3575C= (p.Thr1192=) | |
| 9 | g.123376974C>G | CA374869777 | CRB2 | c.3770C>G (p.Thr1257Ser) c.2774C>G (p.Thr925Ser) n.2884C>G c.3743C>G (p.Thr1248Ser) c.3575C>G (p.Thr1192Ser) | |
| 9 | g.123376974C>T | CA374869778 | CRB2 | c.3770C>T (p.Thr1257Ile) c.2774C>T (p.Thr925Ile) n.2884C>T c.3743C>T (p.Thr1248Ile) c.3575C>T (p.Thr1192Ile) | gnomAD v4 |
| 9 | g.123376975C>A | CA467090648 | CRB2 | c.3771C>A (p.Thr1257=) c.2775C>A (p.Thr925=) n.2885C>A c.3744C>A (p.Thr1248=) c.3576C>A (p.Thr1192=) | |
| 9 | g.123376975C>G | CA467090650 | CRB2 | c.3771C>G (p.Thr1257=) c.2775C>G (p.Thr925=) n.2885C>G c.3744C>G (p.Thr1248=) c.3576C>G (p.Thr1192=) | |
| 9 | g.123376975C>T | CA467090653 | CRB2 | c.3771C>T (p.Thr1257=) c.2775C>T (p.Thr925=) n.2885C>T c.3744C>T (p.Thr1248=) c.3576C>T (p.Thr1192=) | |
| 9 | g.123376976T>A | CA374869779 | CRB2 | c.3772T>A (p.Tyr1258Asn) c.2776T>A (p.Tyr926Asn) n.2886T>A c.3745T>A (p.Tyr1249Asn) c.3577T>A (p.Tyr1193Asn) | |
| 9 | g.123376976T>C | CA374869780 | CRB2 | c.3772T>C (p.Tyr1258His) c.2776T>C (p.Tyr926His) n.2886T>C c.3745T>C (p.Tyr1249His) c.3577T>C (p.Tyr1193His) | gnomAD v4 |
| 9 | g.123376976T>G | CA374869781 | CRB2 | c.3772T>G (p.Tyr1258Asp) c.2776T>G (p.Tyr926Asp) n.2886T>G c.3745T>G (p.Tyr1249Asp) c.3577T>G (p.Tyr1193Asp) | |
| 9 | g.123376977A>C | CA374869782 | CRB2 | c.3773A>C (p.Tyr1258Ser) c.2777A>C (p.Tyr926Ser) n.2887A>C c.3746A>C (p.Tyr1249Ser) c.3578A>C (p.Tyr1193Ser) | |
| 9 | g.123376977A>G | CA374869783 | CRB2 | c.3773A>G (p.Tyr1258Cys) c.2777A>G (p.Tyr926Cys) n.2887A>G c.3746A>G (p.Tyr1249Cys) c.3578A>G (p.Tyr1193Cys) | gnomAD v3 gnomAD v4 |
| 9 | g.123376977A>T | CA374869784 | CRB2 | c.3773A>T (p.Tyr1258Phe) c.2777A>T (p.Tyr926Phe) n.2887A>T c.3746A>T (p.Tyr1249Phe) c.3578A>T (p.Tyr1193Phe) | |
| 9 | g.123376978C>A | CA374869786 | CRB2 | c.3774C>A (p.Tyr1258Ter) c.2778C>A (p.Tyr926Ter) n.2888C>A c.3747C>A (p.Tyr1249Ter) c.3579C>A (p.Tyr1193Ter) | |
| 9 | g.123376978C= | CA1877946664 | CRB2 | c.3774C= (p.Tyr1258=) c.2778C= (p.Tyr926=) n.2888C= c.3747C= (p.Tyr1249=) c.3579C= (p.Tyr1193=) | |
| 9 | g.123376978C>G | CA374869785 | CRB2 | c.3774C>G (p.Tyr1258Ter) c.2778C>G (p.Tyr926Ter) n.2888C>G c.3747C>G (p.Tyr1249Ter) c.3579C>G (p.Tyr1193Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123376978C>T | CA5232611 | CRB2 | c.3774C>T (p.Tyr1258=) c.2778C>T (p.Tyr926=) n.2888C>T c.3747C>T (p.Tyr1249=) c.3579C>T (p.Tyr1193=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376979A>C | CA374869787 | CRB2 | c.3775A>C (p.Ser1259Arg) c.2779A>C (p.Ser927Arg) n.2889A>C c.3748A>C (p.Ser1250Arg) c.3580A>C (p.Ser1194Arg) | |
| 9 | g.123376979A>G | CA374869788 | CRB2 | c.3775A>G (p.Ser1259Gly) c.2779A>G (p.Ser927Gly) n.2889A>G c.3748A>G (p.Ser1250Gly) c.3580A>G (p.Ser1194Gly) | gnomAD v4 |
| 9 | g.123376979A>T | CA374869789 | CRB2 | c.3775A>T (p.Ser1259Cys) c.2779A>T (p.Ser927Cys) n.2889A>T c.3748A>T (p.Ser1250Cys) c.3580A>T (p.Ser1194Cys) | |
| 9 | g.123376980G>A | CA374869790 | CRB2 | c.3776G>A (p.Ser1259Asn) c.2780G>A (p.Ser927Asn) n.2890G>A c.3749G>A (p.Ser1250Asn) c.3581G>A (p.Ser1194Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123376980G>C | CA374869791 | CRB2 | c.3776G>C (p.Ser1259Thr) c.2780G>C (p.Ser927Thr) n.2890G>C c.3749G>C (p.Ser1250Thr) c.3581G>C (p.Ser1194Thr) | |
| 9 | g.123376980G= | CA1877946668 | CRB2 | c.3776G= (p.Ser1259=) c.2780G= (p.Ser927=) n.2890G= c.3749G= (p.Ser1250=) c.3581G= (p.Ser1194=) | |
| 9 | g.123376980G>T | CA374869792 | CRB2 | c.3776G>T (p.Ser1259Ile) c.2780G>T (p.Ser927Ile) n.2890G>T c.3749G>T (p.Ser1250Ile) c.3581G>T (p.Ser1194Ile) | |
| 9 | g.123376981C>A | CA374869793 | CRB2 | c.3777C>A (p.Ser1259Arg) c.2781C>A (p.Ser927Arg) n.2891C>A c.3750C>A (p.Ser1250Arg) c.3582C>A (p.Ser1194Arg) | |
| 9 | g.123376981C= | CA1877946672 | CRB2 | c.3777C= (p.Ser1259=) c.2781C= (p.Ser927=) n.2891C= c.3750C= (p.Ser1250=) c.3582C= (p.Ser1194=) | |
| 9 | g.123376981C>G | CA374869794 | CRB2 | c.3777C>G (p.Ser1259Arg) c.2781C>G (p.Ser927Arg) n.2891C>G c.3750C>G (p.Ser1250Arg) c.3582C>G (p.Ser1194Arg) | gnomAD v4 COSMIC |
| 9 | g.123376981C>T | CA467090686 | CRB2 | c.3777C>T (p.Ser1259=) c.2781C>T (p.Ser927=) n.2891C>T c.3750C>T (p.Ser1250=) c.3582C>T (p.Ser1194=) | dbSNP gnomAD v4 |
| 9 | g.123376983del | CA2691592052 | CRB2 | c.3779del (p.Pro1260GlnfsTer?) c.2783del (p.Pro928GlnfsTer?) n.2893del c.3752del (p.Pro1251GlnfsTer?) c.3584del (p.Pro1195GlnfsTer?) | gnomAD v4 |
| 9 | g.123376982C>A | CA374869795 | CRB2 | c.3778C>A (p.Pro1260Thr) c.2782C>A (p.Pro928Thr) n.2892C>A c.3751C>A (p.Pro1251Thr) c.3583C>A (p.Pro1195Thr) | |
| 9 | g.123376982C= | CA1877946676 | CRB2 | c.3778C= (p.Pro1260=) c.2782C= (p.Pro928=) n.2892C= c.3751C= (p.Pro1251=) c.3583C= (p.Pro1195=) | |
| 9 | g.123376982C>G | CA5232612 | CRB2 | c.3778C>G (p.Pro1260Ala) c.2782C>G (p.Pro928Ala) n.2892C>G c.3751C>G (p.Pro1251Ala) c.3583C>G (p.Pro1195Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123376982C>T | CA374869796 | CRB2 | c.3778C>T (p.Pro1260Ser) c.2782C>T (p.Pro928Ser) n.2892C>T c.3751C>T (p.Pro1251Ser) c.3583C>T (p.Pro1195Ser) | |
| 9 | g.123376983C>A | CA374869799 | CRB2 | c.3779C>A (p.Pro1260Gln) c.2783C>A (p.Pro928Gln) n.2893C>A c.3752C>A (p.Pro1251Gln) c.3584C>A (p.Pro1195Gln) | |
| 9 | g.123376983C>G | CA374869798 | CRB2 | c.3779C>G (p.Pro1260Arg) c.2783C>G (p.Pro928Arg) n.2893C>G c.3752C>G (p.Pro1251Arg) c.3584C>G (p.Pro1195Arg) | |
| 9 | g.123376983C>T | CA374869797 | CRB2 | c.3779C>T (p.Pro1260Leu) c.2783C>T (p.Pro928Leu) n.2893C>T c.3752C>T (p.Pro1251Leu) c.3584C>T (p.Pro1195Leu) | |
| 9 | g.123376984A= | CA1877946679 | CRB2 | c.3780A= (p.Pro1260=) c.2784A= (p.Pro928=) n.2894A= c.3753A= (p.Pro1251=) c.3585A= (p.Pro1195=) | |
| 9 | g.123376984A>C | CA467090708 | CRB2 | c.3780A>C (p.Pro1260=) c.2784A>C (p.Pro928=) n.2894A>C c.3753A>C (p.Pro1251=) c.3585A>C (p.Pro1195=) | |
| 9 | g.123376984A>G | CA5232613 | CRB2 | c.3780A>G (p.Pro1260=) c.2784A>G (p.Pro928=) n.2894A>G c.3753A>G (p.Pro1251=) c.3585A>G (p.Pro1195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123376984A>T | CA467090714 | CRB2 | c.3780A>T (p.Pro1260=) c.2784A>T (p.Pro928=) n.2894A>T c.3753A>T (p.Pro1251=) c.3585A>T (p.Pro1195=) | |
| 9 | g.123376985A>C | CA374869800 | CRB2 | c.3781A>C (p.Ser1261Arg) c.2785A>C (p.Ser929Arg) n.2895A>C c.3754A>C (p.Ser1252Arg) c.3586A>C (p.Ser1196Arg) | gnomAD v4 |
| 9 | g.123376985A>G | CA374869801 | CRB2 | c.3781A>G (p.Ser1261Gly) c.2785A>G (p.Ser929Gly) n.2895A>G c.3754A>G (p.Ser1252Gly) c.3586A>G (p.Ser1196Gly) | |
| 9 | g.123376985A>T | CA374869802 | CRB2 | c.3781A>T (p.Ser1261Cys) c.2785A>T (p.Ser929Cys) n.2895A>T c.3754A>T (p.Ser1252Cys) c.3586A>T (p.Ser1196Cys) | |
| 9 | g.123376986G>A | CA374869803 | CRB2 | c.3782G>A (p.Ser1261Asn) c.2786G>A (p.Ser929Asn) n.2896G>A c.3755G>A (p.Ser1252Asn) c.3587G>A (p.Ser1196Asn) | |
| 9 | g.123376986G>C | CA374869804 | CRB2 | c.3782G>C (p.Ser1261Thr) c.2786G>C (p.Ser929Thr) n.2896G>C c.3755G>C (p.Ser1252Thr) c.3587G>C (p.Ser1196Thr) | |
| 9 | g.123376986G>T | CA374869805 | CRB2 | c.3782G>T (p.Ser1261Ile) c.2786G>T (p.Ser929Ile) n.2896G>T c.3755G>T (p.Ser1252Ile) c.3587G>T (p.Ser1196Ile) | |
| 9 | g.123376987C>A | CA374869806 | CRB2 | c.3783C>A (p.Ser1261Arg) c.2787C>A (p.Ser929Arg) n.2897C>A c.3756C>A (p.Ser1252Arg) c.3588C>A (p.Ser1196Arg) | gnomAD v4 |
| 9 | g.123376987C>G | CA374869807 | CRB2 | c.3783C>G (p.Ser1261Arg) c.2787C>G (p.Ser929Arg) n.2897C>G c.3756C>G (p.Ser1252Arg) c.3588C>G (p.Ser1196Arg) | |
| 9 | g.123376987C>T | CA467090744 | CRB2 | c.3783C>T (p.Ser1261=) c.2787C>T (p.Ser929=) n.2897C>T c.3756C>T (p.Ser1252=) c.3588C>T (p.Ser1196=) | |
| 9 | g.123376988C>A | CA374869808 | CRB2 | c.3784C>A (p.Gln1262Lys) c.2788C>A (p.Gln930Lys) n.2898C>A c.3757C>A (p.Gln1253Lys) c.3589C>A (p.Gln1197Lys) | |
| 9 | g.123376988C>G | CA374869809 | CRB2 | c.3784C>G (p.Gln1262Glu) c.2788C>G (p.Gln930Glu) n.2898C>G c.3757C>G (p.Gln1253Glu) c.3589C>G (p.Gln1197Glu) | gnomAD v4 |
| 9 | g.123376988C>T | CA374869810 | CRB2 | c.3784C>T (p.Gln1262Ter) c.2788C>T (p.Gln930Ter) n.2898C>T c.3757C>T (p.Gln1253Ter) c.3589C>T (p.Gln1197Ter) | |
| 9 | g.123376989A>C | CA374869812 | CRB2 | c.3785A>C (p.Gln1262Pro) c.2789A>C (p.Gln930Pro) n.2899A>C c.3758A>C (p.Gln1253Pro) c.3590A>C (p.Gln1197Pro) | |
| 9 | g.123376989A>G | CA374869813 | CRB2 | c.3785A>G (p.Gln1262Arg) c.2789A>G (p.Gln930Arg) n.2899A>G c.3758A>G (p.Gln1253Arg) c.3590A>G (p.Gln1197Arg) | |
| 9 | g.123376989A>T | CA374869811 | CRB2 | c.3785A>T (p.Gln1262Leu) c.2789A>T (p.Gln930Leu) n.2899A>T c.3758A>T (p.Gln1253Leu) c.3590A>T (p.Gln1197Leu) | |
| 9 | g.123376990G>A | CA467090762 | CRB2 | c.3786G>A (p.Gln1262=) c.2790G>A (p.Gln930=) n.2900G>A c.3759G>A (p.Gln1253=) c.3591G>A (p.Gln1197=) | |
| 9 | g.123376990G>C | CA374869815 | CRB2 | c.3786G>C (p.Gln1262His) c.2790G>C (p.Gln930His) n.2900G>C c.3759G>C (p.Gln1253His) c.3591G>C (p.Gln1197His) | |
| 9 | g.123376990G>T | CA374869814 | CRB2 | c.3786G>T (p.Gln1262His) c.2790G>T (p.Gln930His) n.2900G>T c.3759G>T (p.Gln1253His) c.3591G>T (p.Gln1197His) | |
| 9 | g.123376991C>A | CA374869816 | CRB2 | c.3787C>A (p.Gln1263Lys) c.2791C>A (p.Gln931Lys) n.2901C>A c.3760C>A (p.Gln1254Lys) c.3592C>A (p.Gln1198Lys) | gnomAD v4 |
| 9 | g.123376991C= | CA1877946686 | CRB2 | c.3787C= (p.Gln1263=) c.2791C= (p.Gln931=) n.2901C= c.3760C= (p.Gln1254=) c.3592C= (p.Gln1198=) | |
| 9 | g.123376991C>G | CA374869817 | CRB2 | c.3787C>G (p.Gln1263Glu) c.2791C>G (p.Gln931Glu) n.2901C>G c.3760C>G (p.Gln1254Glu) c.3592C>G (p.Gln1198Glu) | dbSNP gnomAD v4 |
| 9 | g.123376991C>T | CA374869818 | CRB2 | c.3787C>T (p.Gln1263Ter) c.2791C>T (p.Gln931Ter) n.2901C>T c.3760C>T (p.Gln1254Ter) c.3592C>T (p.Gln1198Ter) | |
| 9 | g.123376992A>C | CA374869819 | CRB2 | c.3788A>C (p.Gln1263Pro) c.2792A>C (p.Gln931Pro) n.2902A>C c.3761A>C (p.Gln1254Pro) c.3593A>C (p.Gln1198Pro) | |
| 9 | g.123376992A>G | CA374869820 | CRB2 | c.3788A>G (p.Gln1263Arg) c.2792A>G (p.Gln931Arg) n.2902A>G c.3761A>G (p.Gln1254Arg) c.3593A>G (p.Gln1198Arg) | gnomAD v4 |
| 9 | g.123376992A>T | CA374869821 | CRB2 | c.3788A>T (p.Gln1263Leu) c.2792A>T (p.Gln931Leu) n.2902A>T c.3761A>T (p.Gln1254Leu) c.3593A>T (p.Gln1198Leu) | |
| 9 | g.123376993G>A | CA467090782 | CRB2 | c.3789G>A (p.Gln1263=) c.2793G>A (p.Gln931=) n.2903G>A c.3762G>A (p.Gln1254=) c.3594G>A (p.Gln1198=) | |
| 9 | g.123376993G>C | CA374869822 | CRB2 | c.3789G>C (p.Gln1263His) c.2793G>C (p.Gln931His) n.2903G>C c.3762G>C (p.Gln1254His) c.3594G>C (p.Gln1198His) | |
| 9 | g.123376993G>T | CA374869823 | CRB2 | c.3789G>T (p.Gln1263His) c.2793G>T (p.Gln931His) n.2903G>T c.3762G>T (p.Gln1254His) c.3594G>T (p.Gln1198His) | |
| 9 | g.123376994G>A | CA374869824 | CRB2 | c.3790G>A (p.Glu1264Lys) c.2794G>A (p.Glu932Lys) n.2904G>A c.3763G>A (p.Glu1255Lys) c.3595G>A (p.Glu1199Lys) | |
| 9 | g.123376994G>C | CA374869825 | CRB2 | c.3790G>C (p.Glu1264Gln) c.2794G>C (p.Glu932Gln) n.2904G>C c.3763G>C (p.Glu1255Gln) c.3595G>C (p.Glu1199Gln) | |
| 9 | g.123376994G= | CA1877946691 | CRB2 | c.3790G= (p.Glu1264=) c.2794G= (p.Glu932=) n.2904G= c.3763G= (p.Glu1255=) c.3595G= (p.Glu1199=) | |
| 9 | g.123376994G>T | CA199643101 | CRB2 | c.3790G>T (p.Glu1264Ter) c.2794G>T (p.Glu932Ter) n.2904G>T c.3763G>T (p.Glu1255Ter) c.3595G>T (p.Glu1199Ter) | dbSNP |
| 9 | g.123376995A>C | CA374869828 | CRB2 | c.3791A>C (p.Glu1264Ala) c.2795A>C (p.Glu932Ala) n.2905A>C c.3764A>C (p.Glu1255Ala) c.3596A>C (p.Glu1199Ala) | |
| 9 | g.123376995A>G | CA374869827 | CRB2 | c.3791A>G (p.Glu1264Gly) c.2795A>G (p.Glu932Gly) n.2905A>G c.3764A>G (p.Glu1255Gly) c.3596A>G (p.Glu1199Gly) | |
| 9 | g.123376995A>T | CA374869826 | CRB2 | c.3791A>T (p.Glu1264Val) c.2795A>T (p.Glu932Val) n.2905A>T c.3764A>T (p.Glu1255Val) c.3596A>T (p.Glu1199Val) | gnomAD v4 |
| 9 | g.123377000_123377038del | CA2691592053 | CRB2 | c.3796_3834del (p.Ala1266_Val1278del) c.2800_2838del (p.Ala934_Val946del) n.2910_2948del c.3769_3807del (p.Ala1257_Val1269del) c.3601_3639del (p.Ala1201_Val1213del) | gnomAD v4 |
| 9 | g.123376996G>A | CA5232614 | CRB2 | c.3792G>A (p.Glu1264=) c.2796G>A (p.Glu932=) n.2906G>A c.3765G>A (p.Glu1255=) c.3597G>A (p.Glu1199=) | dbSNP ExAC gnomAD v2 |
| 9 | g.123376996G>C | CA374869829 | CRB2 | c.3792G>C (p.Glu1264Asp) c.2796G>C (p.Glu932Asp) n.2906G>C c.3765G>C (p.Glu1255Asp) c.3597G>C (p.Glu1199Asp) | |
| 9 | g.123376996G= | CA1877946696 | CRB2 | c.3792G= (p.Glu1264=) c.2796G= (p.Glu932=) n.2906G= c.3765G= (p.Glu1255=) c.3597G= (p.Glu1199=) | |
| 9 | g.123376996G>T | CA374869830 | CRB2 | c.3792G>T (p.Glu1264Asp) c.2796G>T (p.Glu932Asp) n.2906G>T c.3765G>T (p.Glu1255Asp) c.3597G>T (p.Glu1199Asp) | |
| 9 | g.123376997G>A | CA374869831 | CRB2 | c.3793G>A (p.Val1265Met) c.2797G>A (p.Val933Met) n.2907G>A c.3766G>A (p.Val1256Met) c.3598G>A (p.Val1200Met) | gnomAD v4 |
| 9 | g.123376997G>C | CA374869832 | CRB2 | c.3793G>C (p.Val1265Leu) c.2797G>C (p.Val933Leu) n.2907G>C c.3766G>C (p.Val1256Leu) c.3598G>C (p.Val1200Leu) | |
| 9 | g.123376997G>T | CA374869833 | CRB2 | c.3793G>T (p.Val1265Leu) c.2797G>T (p.Val933Leu) n.2907G>T c.3766G>T (p.Val1256Leu) c.3598G>T (p.Val1200Leu) | |
| 9 | g.123376998T>A | CA374869834 | CRB2 | c.3794T>A (p.Val1265Glu) c.2798T>A (p.Val933Glu) n.2908T>A c.3767T>A (p.Val1256Glu) c.3599T>A (p.Val1200Glu) | |
| 9 | g.123376998T>C | CA374869835 | CRB2 | c.3794T>C (p.Val1265Ala) c.2798T>C (p.Val933Ala) n.2908T>C c.3767T>C (p.Val1256Ala) c.3599T>C (p.Val1200Ala) | gnomAD v4 |
| 9 | g.123376998T>G | CA374869836 | CRB2 | c.3794T>G (p.Val1265Gly) c.2798T>G (p.Val933Gly) n.2908T>G c.3767T>G (p.Val1256Gly) c.3599T>G (p.Val1200Gly) | |
| 9 | g.123376999G>A | CA467090832 | CRB2 | c.3795G>A (p.Val1265=) c.2799G>A (p.Val933=) n.2909G>A c.3768G>A (p.Val1256=) c.3600G>A (p.Val1200=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123376999G>C | CA467090835 | CRB2 | c.3795G>C (p.Val1265=) c.2799G>C (p.Val933=) n.2909G>C c.3768G>C (p.Val1256=) c.3600G>C (p.Val1200=) | |
| 9 | g.123376999G= | CA1877946699 | CRB2 | c.3795G= (p.Val1265=) c.2799G= (p.Val933=) n.2909G= c.3768G= (p.Val1256=) c.3600G= (p.Val1200=) | |
| 9 | g.123376999G>T | CA467090837 | CRB2 | c.3795G>T (p.Val1265=) c.2799G>T (p.Val933=) n.2909G>T c.3768G>T (p.Val1256=) c.3600G>T (p.Val1200=) | |
| 9 | g.123377000G>A | CA374869837 | CRB2 | c.3796G>A (p.Ala1266Thr) c.2800G>A (p.Ala934Thr) n.2910G>A c.3769G>A (p.Ala1257Thr) c.3601G>A (p.Ala1201Thr) | |
| 9 | g.123377000G>C | CA374869838 | CRB2 | c.3796G>C (p.Ala1266Pro) c.2800G>C (p.Ala934Pro) n.2910G>C c.3769G>C (p.Ala1257Pro) c.3601G>C (p.Ala1201Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377000G= | CA1877946704 | CRB2 | c.3796G= (p.Ala1266=) c.2800G= (p.Ala934=) n.2910G= c.3769G= (p.Ala1257=) c.3601G= (p.Ala1201=) | |
| 9 | g.123377000G>T | CA374869839 | CRB2 | c.3796G>T (p.Ala1266Ser) c.2800G>T (p.Ala934Ser) n.2910G>T c.3769G>T (p.Ala1257Ser) c.3601G>T (p.Ala1201Ser) | |
| 9 | g.123377001C>A | CA374869842 | CRB2 | c.3797C>A (p.Ala1266Asp) c.2801C>A (p.Ala934Asp) n.2911C>A c.3770C>A (p.Ala1257Asp) c.3602C>A (p.Ala1201Asp) | gnomAD v4 |
| 9 | g.123377001C= | CA1877946707 | CRB2 | c.3797C= (p.Ala1266=) c.2801C= (p.Ala934=) n.2911C= c.3770C= (p.Ala1257=) c.3602C= (p.Ala1201=) | |
| 9 | g.123377001C>G | CA374869841 | CRB2 | c.3797C>G (p.Ala1266Gly) c.2801C>G (p.Ala934Gly) n.2911C>G c.3770C>G (p.Ala1257Gly) c.3602C>G (p.Ala1201Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377001C>T | CA374869840 | CRB2 | c.3797C>T (p.Ala1266Val) c.2801C>T (p.Ala934Val) n.2911C>T c.3770C>T (p.Ala1257Val) c.3602C>T (p.Ala1201Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123377002T>A | CA5232615 | CRB2 | c.3798T>A (p.Ala1266=) c.2802T>A (p.Ala934=) n.2912T>A c.3771T>A (p.Ala1257=) c.3603T>A (p.Ala1201=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123377002T>C | CA467090857 | CRB2 | c.3798T>C (p.Ala1266=) c.2802T>C (p.Ala934=) n.2912T>C c.3771T>C (p.Ala1257=) c.3603T>C (p.Ala1201=) | |
| 9 | g.123377002T>G | CA467090860 | CRB2 | c.3798T>G (p.Ala1266=) c.2802T>G (p.Ala934=) n.2912T>G c.3771T>G (p.Ala1257=) c.3603T>G (p.Ala1201=) | gnomAD v4 |
| 9 | g.123377002T= | CA1877946711 | CRB2 | c.3798T= (p.Ala1266=) c.2802T= (p.Ala934=) n.2912T= c.3771T= (p.Ala1257=) c.3603T= (p.Ala1201=) | |
| 9 | g.123377003G>A | CA374869843 | CRB2 | c.3799G>A (p.Gly1267Arg) c.2803G>A (p.Gly935Arg) n.2913G>A c.3772G>A (p.Gly1258Arg) c.3604G>A (p.Gly1202Arg) | gnomAD v4 |
| 9 | g.123377003G>C | CA374869844 | CRB2 | c.3799G>C (p.Gly1267Arg) c.2803G>C (p.Gly935Arg) n.2913G>C c.3772G>C (p.Gly1258Arg) c.3604G>C (p.Gly1202Arg) | |
| 9 | g.123377003G>T | CA374869845 | CRB2 | c.3799G>T (p.Gly1267Trp) c.2803G>T (p.Gly935Trp) n.2913G>T c.3772G>T (p.Gly1258Trp) c.3604G>T (p.Gly1202Trp) | |
| 9 | g.123377006del | CA2691592055 | CRB2 | c.3802del (p.Ala1268ProfsTer?) c.2806del (p.Ala936ProfsTer?) n.2916del c.3775del (p.Ala1259ProfsTer?) c.3607del (p.Ala1203ProfsTer?) | gnomAD v4 |
| 9 | g.123377004G>A | CA374869846 | CRB2 | c.3800G>A (p.Gly1267Glu) c.2804G>A (p.Gly935Glu) n.2914G>A c.3773G>A (p.Gly1258Glu) c.3605G>A (p.Gly1202Glu) | |
| 9 | g.123377004G>C | CA374869847 | CRB2 | c.3800G>C (p.Gly1267Ala) c.2804G>C (p.Gly935Ala) n.2914G>C c.3773G>C (p.Gly1258Ala) c.3605G>C (p.Gly1202Ala) | |
| 9 | g.123377004G>T | CA374869848 | CRB2 | c.3800G>T (p.Gly1267Val) c.2804G>T (p.Gly935Val) n.2914G>T c.3773G>T (p.Gly1258Val) c.3605G>T (p.Gly1202Val) | |
| 9 | g.123377005G>A | CA467090887 | CRB2 | c.3801G>A (p.Gly1267=) c.2805G>A (p.Gly935=) n.2915G>A c.3774G>A (p.Gly1258=) c.3606G>A (p.Gly1202=) | |
| 9 | g.123377005G>C | CA467090889 | CRB2 | c.3801G>C (p.Gly1267=) c.2805G>C (p.Gly935=) n.2915G>C c.3774G>C (p.Gly1258=) c.3606G>C (p.Gly1202=) | |
| 9 | g.123377005G>T | CA467090892 | CRB2 | c.3801G>T (p.Gly1267=) c.2805G>T (p.Gly935=) n.2915G>T c.3774G>T (p.Gly1258=) c.3606G>T (p.Gly1202=) | |
| 9 | g.123377006G>A | CA374869849 | CRB2 | c.3802G>A (p.Ala1268Thr) c.2806G>A (p.Ala936Thr) n.2916G>A c.3775G>A (p.Ala1259Thr) c.3607G>A (p.Ala1203Thr) | COSMIC |
| 9 | g.123377006G>C | CA374869850 | CRB2 | c.3802G>C (p.Ala1268Pro) c.2806G>C (p.Ala936Pro) n.2916G>C c.3775G>C (p.Ala1259Pro) c.3607G>C (p.Ala1203Pro) | |
| 9 | g.123377006G>T | CA374869851 | CRB2 | c.3802G>T (p.Ala1268Ser) c.2806G>T (p.Ala936Ser) n.2916G>T c.3775G>T (p.Ala1259Ser) c.3607G>T (p.Ala1203Ser) | |
| 9 | g.123377007C>A | CA374869852 | CRB2 | c.3803C>A (p.Ala1268Asp) c.2807C>A (p.Ala936Asp) n.2917C>A c.3776C>A (p.Ala1259Asp) c.3608C>A (p.Ala1203Asp) | gnomAD v4 |
| 9 | g.123377007C>G | CA374869853 | CRB2 | c.3803C>G (p.Ala1268Gly) c.2807C>G (p.Ala936Gly) n.2917C>G c.3776C>G (p.Ala1259Gly) c.3608C>G (p.Ala1203Gly) | |
| 9 | g.123377007C>T | CA374869854 | CRB2 | c.3803C>T (p.Ala1268Val) c.2807C>T (p.Ala936Val) n.2917C>T c.3776C>T (p.Ala1259Val) c.3608C>T (p.Ala1203Val) | |
| 9 | g.123377007_123377009dup | CA2579446752 | CRB2 | c.3803_3805dup (p.Ala1268_Arg1269insPro) c.2807_2809dup (p.Ala936_Arg937insPro) n.2917_2919dup c.3776_3778dup (p.Ala1259_Arg1260insPro) c.3608_3610dup (p.Ala1203_Arg1204insPro) | |
| 9 | g.123377008C>A | CA467090896 | CRB2 | c.3804C>A (p.Ala1268=) c.2808C>A (p.Ala936=) n.2918C>A c.3777C>A (p.Ala1259=) c.3609C>A (p.Ala1203=) | |
| 9 | g.123377008C>G | CA467090899 | CRB2 | c.3804C>G (p.Ala1268=) c.2808C>G (p.Ala936=) n.2918C>G c.3777C>G (p.Ala1259=) c.3609C>G (p.Ala1203=) | |
| 9 | g.123377008C>T | CA467090901 | CRB2 | c.3804C>T (p.Ala1268=) c.2808C>T (p.Ala936=) n.2918C>T c.3777C>T (p.Ala1259=) c.3609C>T (p.Ala1203=) | |
| 9 | g.123377009C>A | CA467090905 | CRB2 | c.3805C>A (p.Arg1269=) c.2809C>A (p.Arg937=) n.2919C>A c.3778C>A (p.Arg1260=) c.3610C>A (p.Arg1204=) | gnomAD v4 |
| 9 | g.123377009C= | CA1877946716 | CRB2 | c.3805C= (p.Arg1269=) c.2809C= (p.Arg937=) n.2919C= c.3778C= (p.Arg1260=) c.3610C= (p.Arg1204=) | |
| 9 | g.123377009C>G | CA374869856 | CRB2 | c.3805C>G (p.Arg1269Gly) c.2809C>G (p.Arg937Gly) n.2919C>G c.3778C>G (p.Arg1260Gly) c.3610C>G (p.Arg1204Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.123377009C>T | CA374869855 | CRB2 | c.3805C>T (p.Arg1269Trp) c.2809C>T (p.Arg937Trp) n.2919C>T c.3778C>T (p.Arg1260Trp) c.3610C>T (p.Arg1204Trp) | gnomAD v4 |
| 9 | g.123377010G>A | CA5232616 | CRB2 | c.3806G>A (p.Arg1269Gln) c.2810G>A (p.Arg937Gln) n.2920G>A c.3779G>A (p.Arg1260Gln) c.3611G>A (p.Arg1204Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123377010G>C | CA374869857 | CRB2 | c.3806G>C (p.Arg1269Pro) c.2810G>C (p.Arg937Pro) n.2920G>C c.3779G>C (p.Arg1260Pro) c.3611G>C (p.Arg1204Pro) | dbSNP |
| 9 | g.123377010G= | CA1877946721 | CRB2 | c.3806G= (p.Arg1269=) c.2810G= (p.Arg937=) n.2920G= c.3779G= (p.Arg1260=) c.3611G= (p.Arg1204=) | |
| 9 | g.123377010G>T | CA374869858 | CRB2 | c.3806G>T (p.Arg1269Leu) c.2810G>T (p.Arg937Leu) n.2920G>T c.3779G>T (p.Arg1260Leu) c.3611G>T (p.Arg1204Leu) | |
| 9 | g.123377011G>A | CA467090923 | CRB2 | c.3807G>A (p.Arg1269=) c.2811G>A (p.Arg937=) n.2921G>A c.3780G>A (p.Arg1260=) c.3612G>A (p.Arg1204=) | gnomAD v4 |
| 9 | g.123377011G>C | CA467090926 | CRB2 | c.3807G>C (p.Arg1269=) c.2811G>C (p.Arg937=) n.2921G>C c.3780G>C (p.Arg1260=) c.3612G>C (p.Arg1204=) | gnomAD v2 gnomAD v4 |
| 9 | g.123377011G>T | CA467090928 | CRB2 | c.3807G>T (p.Arg1269=) c.2811G>T (p.Arg937=) n.2921G>T c.3780G>T (p.Arg1260=) c.3612G>T (p.Arg1204=) | gnomAD v4 |
| 9 | g.123377012C>A | CA374869859 | CRB2 | c.3808C>A (p.Leu1270Met) c.2812C>A (p.Leu938Met) n.2922C>A c.3781C>A (p.Leu1261Met) c.3613C>A (p.Leu1205Met) | |
| 9 | g.123377012C= | CA1877946726 | CRB2 | c.3808C= (p.Leu1270=) c.2812C= (p.Leu938=) n.2922C= c.3781C= (p.Leu1261=) c.3613C= (p.Leu1205=) | |
| 9 | g.123377012C>G | CA374869860 | CRB2 | c.3808C>G (p.Leu1270Val) c.2812C>G (p.Leu938Val) n.2922C>G c.3781C>G (p.Leu1261Val) c.3613C>G (p.Leu1205Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377012C>T | CA467090941 | CRB2 | c.3808C>T (p.Leu1270=) c.2812C>T (p.Leu938=) n.2922C>T c.3781C>T (p.Leu1261=) c.3613C>T (p.Leu1205=) | |
| 9 | g.123377013T>A | CA374869861 | CRB2 | c.3809T>A (p.Leu1270Gln) c.2813T>A (p.Leu938Gln) n.2923T>A c.3782T>A (p.Leu1261Gln) c.3614T>A (p.Leu1205Gln) | |
| 9 | g.123377013T>C | CA374869862 | CRB2 | c.3809T>C (p.Leu1270Pro) c.2813T>C (p.Leu938Pro) n.2923T>C c.3782T>C (p.Leu1261Pro) c.3614T>C (p.Leu1205Pro) | |
| 9 | g.123377013T>G | CA374869863 | CRB2 | c.3809T>G (p.Leu1270Arg) c.2813T>G (p.Leu938Arg) n.2923T>G c.3782T>G (p.Leu1261Arg) c.3614T>G (p.Leu1205Arg) | |
| 9 | g.123377014G>A | CA467090954 | CRB2 | c.3810G>A (p.Leu1270=) c.2814G>A (p.Leu938=) n.2924G>A c.3783G>A (p.Leu1261=) c.3615G>A (p.Leu1205=) | |
| 9 | g.123377014G>C | CA467090957 | CRB2 | c.3810G>C (p.Leu1270=) c.2814G>C (p.Leu938=) n.2924G>C c.3783G>C (p.Leu1261=) c.3615G>C (p.Leu1205=) | dbSNP |
| 9 | g.123377014G= | CA1877946731 | CRB2 | c.3810G= (p.Leu1270=) c.2814G= (p.Leu938=) n.2924G= c.3783G= (p.Leu1261=) c.3615G= (p.Leu1205=) | |
| 9 | g.123377014G>T | CA467090961 | CRB2 | c.3810G>T (p.Leu1270=) c.2814G>T (p.Leu938=) n.2924G>T c.3783G>T (p.Leu1261=) c.3615G>T (p.Leu1205=) | |
| 9 | g.123377015G>A | CA374869864 | CRB2 | c.3811G>A (p.Glu1271Lys) c.2815G>A (p.Glu939Lys) n.2925G>A c.3784G>A (p.Glu1262Lys) c.3616G>A (p.Glu1206Lys) | COSMIC |
| 9 | g.123377015G>C | CA374869865 | CRB2 | c.3811G>C (p.Glu1271Gln) c.2815G>C (p.Glu939Gln) n.2925G>C c.3784G>C (p.Glu1262Gln) c.3616G>C (p.Glu1206Gln) | gnomAD v4 |
| 9 | g.123377015G>T | CA374869866 | CRB2 | c.3811G>T (p.Glu1271Ter) c.2815G>T (p.Glu939Ter) n.2925G>T c.3784G>T (p.Glu1262Ter) c.3616G>T (p.Glu1206Ter) | |
| 9 | g.123377016A>C | CA374869867 | CRB2 | c.3812A>C (p.Glu1271Ala) c.2816A>C (p.Glu939Ala) n.2926A>C c.3785A>C (p.Glu1262Ala) c.3617A>C (p.Glu1206Ala) | |
| 9 | g.123377016A>G | CA374869868 | CRB2 | c.3812A>G (p.Glu1271Gly) c.2816A>G (p.Glu939Gly) n.2926A>G c.3785A>G (p.Glu1262Gly) c.3617A>G (p.Glu1206Gly) | gnomAD v4 |
| 9 | g.123377016A>T | CA374869869 | CRB2 | c.3812A>T (p.Glu1271Val) c.2816A>T (p.Glu939Val) n.2926A>T c.3785A>T (p.Glu1262Val) c.3617A>T (p.Glu1206Val) | |
| 9 | g.123377017G>A | CA467090979 | CRB2 | c.3813G>A (p.Glu1271=) c.2817G>A (p.Glu939=) n.2927G>A c.3786G>A (p.Glu1262=) c.3618G>A (p.Glu1206=) | |
| 9 | g.123377017G>C | CA374869871 | CRB2 | c.3813G>C (p.Glu1271Asp) c.2817G>C (p.Glu939Asp) n.2927G>C c.3786G>C (p.Glu1262Asp) c.3618G>C (p.Glu1206Asp) | |
| 9 | g.123377017G>T | CA374869870 | CRB2 | c.3813G>T (p.Glu1271Asp) c.2817G>T (p.Glu939Asp) n.2927G>T c.3786G>T (p.Glu1262Asp) c.3618G>T (p.Glu1206Asp) | |
| 9 | g.123377018A>C | CA374869872 | CRB2 | c.3814A>C (p.Met1272Leu) c.2818A>C (p.Met940Leu) n.2928A>C c.3787A>C (p.Met1263Leu) c.3619A>C (p.Met1207Leu) | |
| 9 | g.123377018A>G | CA374869874 | CRB2 | c.3814A>G (p.Met1272Val) c.2818A>G (p.Met940Val) n.2928A>G c.3787A>G (p.Met1263Val) c.3619A>G (p.Met1207Val) | |
| 9 | g.123377018A>T | CA374869873 | CRB2 | c.3814A>T (p.Met1272Leu) c.2818A>T (p.Met940Leu) n.2928A>T c.3787A>T (p.Met1263Leu) c.3619A>T (p.Met1207Leu) | |
| 9 | g.123377019T>A | CA374869875 | CRB2 | c.3815T>A (p.Met1272Lys) c.2819T>A (p.Met940Lys) n.2929T>A c.3788T>A (p.Met1263Lys) c.3620T>A (p.Met1207Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377019T>C | CA374869877 | CRB2 | c.3815T>C (p.Met1272Thr) c.2819T>C (p.Met940Thr) n.2929T>C c.3788T>C (p.Met1263Thr) c.3620T>C (p.Met1207Thr) | gnomAD v4 |
| 9 | g.123377019T>G | CA374869876 | CRB2 | c.3815T>G (p.Met1272Arg) c.2819T>G (p.Met940Arg) n.2929T>G c.3788T>G (p.Met1263Arg) c.3620T>G (p.Met1207Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377019T= | CA1877946733 | CRB2 | c.3815T= (p.Met1272=) c.2819T= (p.Met940=) n.2929T= c.3788T= (p.Met1263=) c.3620T= (p.Met1207=) | |
| 9 | g.123377020G>A | CA199643109 | CRB2 | c.3816G>A (p.Met1272Ile) c.2820G>A (p.Met940Ile) n.2930G>A c.3789G>A (p.Met1263Ile) c.3621G>A (p.Met1207Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377020G>C | CA374869879 | CRB2 | c.3816G>C (p.Met1272Ile) c.2820G>C (p.Met940Ile) n.2930G>C c.3789G>C (p.Met1263Ile) c.3621G>C (p.Met1207Ile) | gnomAD v4 |
| 9 | g.123377020G= | CA1877946736 | CRB2 | c.3816G= (p.Met1272=) c.2820G= (p.Met940=) n.2930G= c.3789G= (p.Met1263=) c.3621G= (p.Met1207=) | |
| 9 | g.123377020G>T | CA374869878 | CRB2 | c.3816G>T (p.Met1272Ile) c.2820G>T (p.Met940Ile) n.2930G>T c.3789G>T (p.Met1263Ile) c.3621G>T (p.Met1207Ile) | gnomAD v4 |
| 9 | g.123377021G>A | CA374869880 | CRB2 | c.3817G>A (p.Asp1273Asn) c.2821G>A (p.Asp941Asn) n.2931G>A c.3790G>A (p.Asp1264Asn) c.3622G>A (p.Asp1208Asn) | |
| 9 | g.123377021G>C | CA374869881 | CRB2 | c.3817G>C (p.Asp1273His) c.2821G>C (p.Asp941His) n.2931G>C c.3790G>C (p.Asp1264His) c.3622G>C (p.Asp1208His) | |
| 9 | g.123377021G>T | CA374869882 | CRB2 | c.3817G>T (p.Asp1273Tyr) c.2821G>T (p.Asp941Tyr) n.2931G>T c.3790G>T (p.Asp1264Tyr) c.3622G>T (p.Asp1208Tyr) | |
| 9 | g.123377021_123377023delinsGAC | CA1877946742 | CRB2 | c.3817_3819delinsGAC (p.Asp1273=) c.2821_2823delinsGAC (p.Asp941=) n.2931_2933delinsGAC c.3790_3792delinsGAC (p.Asp1264=) c.3622_3624delinsGAC (p.Asp1208=) | |
| 9 | g.123377022A= | CA1877946745 | CRB2 | c.3818A= (p.Asp1273=) c.2822A= (p.Asp941=) n.2932A= c.3791A= (p.Asp1264=) c.3623A= (p.Asp1208=) | |
| 9 | g.123377022A>C | CA374869883 | CRB2 | c.3818A>C (p.Asp1273Ala) c.2822A>C (p.Asp941Ala) n.2932A>C c.3791A>C (p.Asp1264Ala) c.3623A>C (p.Asp1208Ala) | |
| 9 | g.123377022A>G | CA374869884 | CRB2 | c.3818A>G (p.Asp1273Gly) c.2822A>G (p.Asp941Gly) n.2932A>G c.3791A>G (p.Asp1264Gly) c.3623A>G (p.Asp1208Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377022A>T | CA374869885 | CRB2 | c.3818A>T (p.Asp1273Val) c.2822A>T (p.Asp941Val) n.2932A>T c.3791A>T (p.Asp1264Val) c.3623A>T (p.Asp1208Val) | |
| 9 | g.123377023_123377024del | CA590936445 | CRB2 | c.3819_3820del (p.Asp1273GlufsTer?) c.2823_2824del (p.Asp941GlufsTer?) n.2933_2934del c.3792_3793del (p.Asp1264GlufsTer?) c.3624_3625del (p.Asp1208GlufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377022_123377031delinsACAGTGTCCT | CA1877946746 | CRB2 | c.3818_3827delinsACAGTGTCCT (p.Asp1273=) c.2822_2831delinsACAGTGTCCT (p.Asp941=) n.2932_2941delinsACAGTGTCCT c.3791_3800delinsACAGTGTCCT (p.Asp1264=) c.3623_3632delinsACAGTGTCCT (p.Asp1208=) | |
| 9 | g.123377023C>A | CA374869886 | CRB2 | c.3819C>A (p.Asp1273Glu) c.2823C>A (p.Asp941Glu) n.2933C>A c.3792C>A (p.Asp1264Glu) c.3624C>A (p.Asp1208Glu) | gnomAD v4 |
| 9 | g.123377023C>G | CA374869887 | CRB2 | c.3819C>G (p.Asp1273Glu) c.2823C>G (p.Asp941Glu) n.2933C>G c.3792C>G (p.Asp1264Glu) c.3624C>G (p.Asp1208Glu) | |
| 9 | g.123377023C>T | CA467091022 | CRB2 | c.3819C>T (p.Asp1273=) c.2823C>T (p.Asp941=) n.2933C>T c.3792C>T (p.Asp1264=) c.3624C>T (p.Asp1208=) | |
| 9 | g.123377025_123377033del | CA590936446 | CRB2 | c.3821_3829del (p.Ser1274_Leu1276del) c.2825_2833del (p.Ser942_Leu944del) n.2935_2943del c.3794_3802del (p.Ser1265_Leu1267del) c.3626_3634del (p.Ser1209_Leu1211del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377024A>C | CA374869888 | CRB2 | c.3820A>C (p.Ser1274Arg) c.2824A>C (p.Ser942Arg) n.2934A>C c.3793A>C (p.Ser1265Arg) c.3625A>C (p.Ser1209Arg) | |
| 9 | g.123377024A>G | CA374869889 | CRB2 | c.3820A>G (p.Ser1274Gly) c.2824A>G (p.Ser942Gly) n.2934A>G c.3793A>G (p.Ser1265Gly) c.3625A>G (p.Ser1209Gly) | |
| 9 | g.123377024A>T | CA374869890 | CRB2 | c.3820A>T (p.Ser1274Cys) c.2824A>T (p.Ser942Cys) n.2934A>T c.3793A>T (p.Ser1265Cys) c.3625A>T (p.Ser1209Cys) | |
| 9 | g.123377025G>A | CA5232617 | CRB2 | c.3821G>A (p.Ser1274Asn) c.2825G>A (p.Ser942Asn) n.2935G>A c.3794G>A (p.Ser1265Asn) c.3626G>A (p.Ser1209Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377025G>C | CA374869892 | CRB2 | c.3821G>C (p.Ser1274Thr) c.2825G>C (p.Ser942Thr) n.2935G>C c.3794G>C (p.Ser1265Thr) c.3626G>C (p.Ser1209Thr) | |
| 9 | g.123377025G= | CA1877946755 | CRB2 | c.3821G= (p.Ser1274=) c.2825G= (p.Ser942=) n.2935G= c.3794G= (p.Ser1265=) c.3626G= (p.Ser1209=) | |
| 9 | g.123377025G>T | CA374869891 | CRB2 | c.3821G>T (p.Ser1274Ile) c.2825G>T (p.Ser942Ile) n.2935G>T c.3794G>T (p.Ser1265Ile) c.3626G>T (p.Ser1209Ile) | |
| 9 | g.123377026T>A | CA374869893 | CRB2 | c.3822T>A (p.Ser1274Arg) c.2826T>A (p.Ser942Arg) n.2936T>A c.3795T>A (p.Ser1265Arg) c.3627T>A (p.Ser1209Arg) | |
| 9 | g.123377026T>C | CA467091051 | CRB2 | c.3822T>C (p.Ser1274=) c.2826T>C (p.Ser942=) n.2936T>C c.3795T>C (p.Ser1265=) c.3627T>C (p.Ser1209=) | |
| 9 | g.123377026T>G | CA374869894 | CRB2 | c.3822T>G (p.Ser1274Arg) c.2826T>G (p.Ser942Arg) n.2936T>G c.3795T>G (p.Ser1265Arg) c.3627T>G (p.Ser1209Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123377026T= | CA1877946759 | CRB2 | c.3822T= (p.Ser1274=) c.2826T= (p.Ser942=) n.2936T= c.3795T= (p.Ser1265=) c.3627T= (p.Ser1209=) | |
| 9 | g.123377027G>A | CA374869895 | CRB2 | c.3823G>A (p.Val1275Ile) c.2827G>A (p.Val943Ile) n.2937G>A c.3796G>A (p.Val1266Ile) c.3628G>A (p.Val1210Ile) | gnomAD v4 |
| 9 | g.123377027G>C | CA374869896 | CRB2 | c.3823G>C (p.Val1275Leu) c.2827G>C (p.Val943Leu) n.2937G>C c.3796G>C (p.Val1266Leu) c.3628G>C (p.Val1210Leu) | |
| 9 | g.123377027G>T | CA374869897 | CRB2 | c.3823G>T (p.Val1275Phe) c.2827G>T (p.Val943Phe) n.2937G>T c.3796G>T (p.Val1266Phe) c.3628G>T (p.Val1210Phe) | |
| 9 | g.123377027_123377030delinsGTCC | CA1877946763 | CRB2 | c.3823_3826delinsGTCC (p.Val1275=) c.2827_2830delinsGTCC (p.Val943=) n.2937_2940delinsGTCC c.3796_3799delinsGTCC (p.Val1266=) c.3628_3631delinsGTCC (p.Val1210=) | |
| 9 | g.123377028T>A | CA374869898 | CRB2 | c.3824T>A (p.Val1275Asp) c.2828T>A (p.Val943Asp) n.2938T>A c.3797T>A (p.Val1266Asp) c.3629T>A (p.Val1210Asp) | |
| 9 | g.123377028T>C | CA374869899 | CRB2 | c.3824T>C (p.Val1275Ala) c.2828T>C (p.Val943Ala) n.2938T>C c.3797T>C (p.Val1266Ala) c.3629T>C (p.Val1210Ala) | COSMIC COSMIC |
| 9 | g.123377028T>G | CA374869900 | CRB2 | c.3824T>G (p.Val1275Gly) c.2828T>G (p.Val943Gly) n.2938T>G c.3797T>G (p.Val1266Gly) c.3629T>G (p.Val1210Gly) | |
| 9 | g.123377030_123377032del | CA5232618 | CRB2 | c.3826_3828del (p.Leu1276del) c.2830_2832del (p.Leu944del) n.2940_2942del c.3799_3801del (p.Leu1267del) c.3631_3633del (p.Leu1211del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377029C>A | CA467091080 | CRB2 | c.3825C>A (p.Val1275=) c.2829C>A (p.Val943=) n.2939C>A c.3798C>A (p.Val1266=) c.3630C>A (p.Val1210=) | gnomAD v4 |
| 9 | g.123377029C>G | CA467091076 | CRB2 | c.3825C>G (p.Val1275=) c.2829C>G (p.Val943=) n.2939C>G c.3798C>G (p.Val1266=) c.3630C>G (p.Val1210=) | |
| 9 | g.123377029C>T | CA467091083 | CRB2 | c.3825C>T (p.Val1275=) c.2829C>T (p.Val943=) n.2939C>T c.3798C>T (p.Val1266=) c.3630C>T (p.Val1210=) | |
| 9 | g.123377030C>A | CA374869901 | CRB2 | c.3826C>A (p.Leu1276Ile) c.2830C>A (p.Leu944Ile) n.2940C>A c.3799C>A (p.Leu1267Ile) c.3631C>A (p.Leu1211Ile) | |
| 9 | g.123377030C= | CA1877946770 | CRB2 | c.3826C= (p.Leu1276=) c.2830C= (p.Leu944=) n.2940C= c.3799C= (p.Leu1267=) c.3631C= (p.Leu1211=) | |
| 9 | g.123377030C>G | CA374869902 | CRB2 | c.3826C>G (p.Leu1276Val) c.2830C>G (p.Leu944Val) n.2940C>G c.3799C>G (p.Leu1267Val) c.3631C>G (p.Leu1211Val) | |
| 9 | g.123377030C>T | CA5232619 | CRB2 | c.3826C>T (p.Leu1276Phe) c.2830C>T (p.Leu944Phe) n.2940C>T c.3799C>T (p.Leu1267Phe) c.3631C>T (p.Leu1211Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377031T>A | CA374869903 | CRB2 | c.3827T>A (p.Leu1276His) c.2831T>A (p.Leu944His) n.2941T>A c.3800T>A (p.Leu1267His) c.3632T>A (p.Leu1211His) | |
| 9 | g.123377031T>C | CA374869904 | CRB2 | c.3827T>C (p.Leu1276Pro) c.2831T>C (p.Leu944Pro) n.2941T>C c.3800T>C (p.Leu1267Pro) c.3632T>C (p.Leu1211Pro) | gnomAD v4 |
| 9 | g.123377031T>G | CA374869905 | CRB2 | c.3827T>G (p.Leu1276Arg) c.2831T>G (p.Leu944Arg) n.2941T>G c.3800T>G (p.Leu1267Arg) c.3632T>G (p.Leu1211Arg) |