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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 9 | g.123377032C>A | CA467091110 | CRB2 | c.3828C>A (p.Leu1276=) c.2832C>A (p.Leu944=) n.2942C>A c.3801C>A (p.Leu1267=) c.3633C>A (p.Leu1211=) | |
| 9 | g.123377032C= | CA1877946772 | CRB2 | c.3828C= (p.Leu1276=) c.2832C= (p.Leu944=) n.2942C= c.3801C= (p.Leu1267=) c.3633C= (p.Leu1211=) | |
| 9 | g.123377032C>G | CA467091107 | CRB2 | c.3828C>G (p.Leu1276=) c.2832C>G (p.Leu944=) n.2942C>G c.3801C>G (p.Leu1267=) c.3633C>G (p.Leu1211=) | gnomAD v4 |
| 9 | g.123377032C>T | CA467091103 | CRB2 | c.3828C>T (p.Leu1276=) c.2832C>T (p.Leu944=) n.2942C>T c.3801C>T (p.Leu1267=) c.3633C>T (p.Leu1211=) | dbSNP gnomAD v4 |
| 9 | g.123377033A= | CA1877946775 | CRB2 | c.3829A= (p.Lys1277=) c.2833A= (p.Lys945=) n.2943A= c.3802A= (p.Lys1268=) c.3634A= (p.Lys1212=) | |
| 9 | g.123377033A>C | CA374869906 | CRB2 | c.3829A>C (p.Lys1277Gln) c.2833A>C (p.Lys945Gln) n.2943A>C c.3802A>C (p.Lys1268Gln) c.3634A>C (p.Lys1212Gln) | |
| 9 | g.123377033A>G | CA5232620 | CRB2 | c.3829A>G (p.Lys1277Glu) c.2833A>G (p.Lys945Glu) n.2943A>G c.3802A>G (p.Lys1268Glu) c.3634A>G (p.Lys1212Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123377033A>T | CA374869907 | CRB2 | c.3829A>T (p.Lys1277Ter) c.2833A>T (p.Lys945Ter) n.2943A>T c.3802A>T (p.Lys1268Ter) c.3634A>T (p.Lys1212Ter) | |
| 9 | g.123377034A>C | CA374869908 | CRB2 | c.3830A>C (p.Lys1277Thr) c.2834A>C (p.Lys945Thr) n.2944A>C c.3803A>C (p.Lys1268Thr) c.3635A>C (p.Lys1212Thr) | |
| 9 | g.123377034A>G | CA374869909 | CRB2 | c.3830A>G (p.Lys1277Arg) c.2834A>G (p.Lys945Arg) n.2944A>G c.3803A>G (p.Lys1268Arg) c.3635A>G (p.Lys1212Arg) | |
| 9 | g.123377034A>T | CA374869910 | CRB2 | c.3830A>T (p.Lys1277Met) c.2834A>T (p.Lys945Met) n.2944A>T c.3803A>T (p.Lys1268Met) c.3635A>T (p.Lys1212Met) | |
| 9 | g.123377035G>A | CA467091131 | CRB2 | c.3831G>A (p.Lys1277=) c.2835G>A (p.Lys945=) n.2945G>A c.3804G>A (p.Lys1268=) c.3636G>A (p.Lys1212=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.123377035G>C | CA374869911 | CRB2 | c.3831G>C (p.Lys1277Asn) c.2835G>C (p.Lys945Asn) n.2945G>C c.3804G>C (p.Lys1268Asn) c.3636G>C (p.Lys1212Asn) | |
| 9 | g.123377035G= | CA1877946782 | CRB2 | c.3831G= (p.Lys1277=) c.2835G= (p.Lys945=) n.2945G= c.3804G= (p.Lys1268=) c.3636G= (p.Lys1212=) | |
| 9 | g.123377035G>T | CA374869912 | CRB2 | c.3831G>T (p.Lys1277Asn) c.2835G>T (p.Lys945Asn) n.2945G>T c.3804G>T (p.Lys1268Asn) c.3636G>T (p.Lys1212Asn) | |
| 9 | g.123377036G>A | CA374869915 | CRB2 | c.3832G>A (p.Val1278Met) c.2836G>A (p.Val946Met) n.2946G>A c.3805G>A (p.Val1269Met) c.3637G>A (p.Val1213Met) | gnomAD v4 |
| 9 | g.123377036G>C | CA374869914 | CRB2 | c.3832G>C (p.Val1278Leu) c.2836G>C (p.Val946Leu) n.2946G>C c.3805G>C (p.Val1269Leu) c.3637G>C (p.Val1213Leu) | |
| 9 | g.123377036G>T | CA374869913 | CRB2 | c.3832G>T (p.Val1278Leu) c.2836G>T (p.Val946Leu) n.2946G>T c.3805G>T (p.Val1269Leu) c.3637G>T (p.Val1213Leu) | |
| 9 | g.123377037T>A | CA374869916 | CRB2 | c.3833T>A (p.Val1278Glu) c.2837T>A (p.Val946Glu) n.2947T>A c.3806T>A (p.Val1269Glu) c.3638T>A (p.Val1213Glu) | |
| 9 | g.123377037T>C | CA374869917 | CRB2 | c.3833T>C (p.Val1278Ala) c.2837T>C (p.Val946Ala) n.2947T>C c.3806T>C (p.Val1269Ala) c.3638T>C (p.Val1213Ala) | |
| 9 | g.123377037T>G | CA374869918 | CRB2 | c.3833T>G (p.Val1278Gly) c.2837T>G (p.Val946Gly) n.2947T>G c.3806T>G (p.Val1269Gly) c.3638T>G (p.Val1213Gly) | |
| 9 | g.123377038G>A | CA467091151 | CRB2 | c.3834G>A (p.Val1278=) c.2838G>A (p.Val946=) n.2948G>A c.3807G>A (p.Val1269=) c.3639G>A (p.Val1213=) | |
| 9 | g.123377038G>C | CA467091159 | CRB2 | c.3834G>C (p.Val1278=) c.2838G>C (p.Val946=) n.2948G>C c.3807G>C (p.Val1269=) c.3639G>C (p.Val1213=) | |
| 9 | g.123377038G>T | CA467091162 | CRB2 | c.3834G>T (p.Val1278=) c.2838G>T (p.Val946=) n.2948G>T c.3807G>T (p.Val1269=) c.3639G>T (p.Val1213=) | gnomAD v4 |
| 9 | g.123377039C>A | CA374869919 | CRB2 | c.3835C>A (p.Pro1279Thr) c.2839C>A (p.Pro947Thr) n.2949C>A c.3808C>A (p.Pro1270Thr) c.3640C>A (p.Pro1214Thr) | gnomAD v4 |
| 9 | g.123377039C>G | CA374869920 | CRB2 | c.3835C>G (p.Pro1279Ala) c.2839C>G (p.Pro947Ala) n.2949C>G c.3808C>G (p.Pro1270Ala) c.3640C>G (p.Pro1214Ala) | |
| 9 | g.123377039C>T | CA374869921 | CRB2 | c.3835C>T (p.Pro1279Ser) c.2839C>T (p.Pro947Ser) n.2949C>T c.3808C>T (p.Pro1270Ser) c.3640C>T (p.Pro1214Ser) | gnomAD v4 |
| 9 | g.123377040C>A | CA374869922 | CRB2 | c.3836C>A (p.Pro1279Gln) c.2840C>A (p.Pro947Gln) n.2950C>A c.3809C>A (p.Pro1270Gln) c.3641C>A (p.Pro1214Gln) | gnomAD v4 |
| 9 | g.123377040C>G | CA374869923 | CRB2 | c.3836C>G (p.Pro1279Arg) c.2840C>G (p.Pro947Arg) n.2950C>G c.3809C>G (p.Pro1270Arg) c.3641C>G (p.Pro1214Arg) | |
| 9 | g.123377040C>T | CA374869924 | CRB2 | c.3836C>T (p.Pro1279Leu) c.2840C>T (p.Pro947Leu) n.2950C>T c.3809C>T (p.Pro1270Leu) c.3641C>T (p.Pro1214Leu) | |
| 9 | g.123377041A= | CA1877946787 | CRB2 | c.3837A= (p.Pro1279=) c.2841A= (p.Pro947=) n.2951A= c.3810A= (p.Pro1270=) c.3642A= (p.Pro1214=) | |
| 9 | g.123377041A>C | CA467091181 | CRB2 | c.3837A>C (p.Pro1279=) c.2841A>C (p.Pro947=) n.2951A>C c.3810A>C (p.Pro1270=) c.3642A>C (p.Pro1214=) | |
| 9 | g.123377041A>G | CA199643118 | CRB2 | c.3837A>G (p.Pro1279=) c.2841A>G (p.Pro947=) n.2951A>G c.3810A>G (p.Pro1270=) c.3642A>G (p.Pro1214=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377041A>T | CA467091189 | CRB2 | c.3837A>T (p.Pro1279=) c.2841A>T (p.Pro947=) n.2951A>T c.3810A>T (p.Pro1270=) c.3642A>T (p.Pro1214=) | |
| 9 | g.123377042C>A | CA374869925 | CRB2 | c.3838C>A (p.Pro1280Thr) c.2842C>A (p.Pro948Thr) n.2952C>A c.3811C>A (p.Pro1271Thr) c.3643C>A (p.Pro1215Thr) | gnomAD v4 |
| 9 | g.123377042C= | CA1877946790 | CRB2 | c.3838C= (p.Pro1280=) c.2842C= (p.Pro948=) n.2952C= c.3811C= (p.Pro1271=) c.3643C= (p.Pro1215=) | |
| 9 | g.123377042C>G | CA374869926 | CRB2 | c.3838C>G (p.Pro1280Ala) c.2842C>G (p.Pro948Ala) n.2952C>G c.3811C>G (p.Pro1271Ala) c.3643C>G (p.Pro1215Ala) | |
| 9 | g.123377042C>T | CA374869927 | CRB2 | c.3838C>T (p.Pro1280Ser) c.2842C>T (p.Pro948Ser) n.2952C>T c.3811C>T (p.Pro1271Ser) c.3643C>T (p.Pro1215Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.123377043C>A | CA374869928 | CRB2 | c.3839C>A (p.Pro1280Gln) c.2843C>A (p.Pro948Gln) n.2953C>A c.3812C>A (p.Pro1271Gln) c.3644C>A (p.Pro1215Gln) | gnomAD v4 |
| 9 | g.123377043C= | CA1877946797 | CRB2 | c.3839C= (p.Pro1280=) c.2843C= (p.Pro948=) n.2953C= c.3812C= (p.Pro1271=) c.3644C= (p.Pro1215=) | |
| 9 | g.123377043C>G | CA199643121 | CRB2 | c.3839C>G (p.Pro1280Arg) c.2843C>G (p.Pro948Arg) n.2953C>G c.3812C>G (p.Pro1271Arg) c.3644C>G (p.Pro1215Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377043C>T | CA5232621 | CRB2 | c.3839C>T (p.Pro1280Leu) c.2843C>T (p.Pro948Leu) n.2953C>T c.3812C>T (p.Pro1271Leu) c.3644C>T (p.Pro1215Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377043_123377046delinsCGGA | CA1877946796 | CRB2 | c.3839_3842delinsCGGA (p.Pro1280=) c.2843_2846delinsCGGA (p.Pro948=) n.2953_2956delinsCGGA c.3812_3815delinsCGGA (p.Pro1271=) c.3644_3647delinsCGGA (p.Pro1215=) | |
| 9 | g.123377044G>A | CA5232623 | CRB2 | c.3840G>A (p.Pro1280=) c.2844G>A (p.Pro948=) n.2954G>A c.3813G>A (p.Pro1271=) c.3645G>A (p.Pro1215=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377044G>C | CA467091217 | CRB2 | c.3840G>C (p.Pro1280=) c.2844G>C (p.Pro948=) n.2954G>C c.3813G>C (p.Pro1271=) c.3645G>C (p.Pro1215=) | |
| 9 | g.123377044G= | CA1877946807 | CRB2 | c.3840G= (p.Pro1280=) c.2844G= (p.Pro948=) n.2954G= c.3813G= (p.Pro1271=) c.3645G= (p.Pro1215=) | |
| 9 | g.123377044G>T | CA467091218 | CRB2 | c.3840G>T (p.Pro1280=) c.2844G>T (p.Pro948=) n.2954G>T c.3813G>T (p.Pro1271=) c.3645G>T (p.Pro1215=) | gnomAD v4 |
| 9 | g.123377048_123377050del | CA5232622 | CRB2 | c.3844_3846del (p.Glu1282del) c.2848_2850del (p.Glu950del) n.2958_2960del c.3817_3819del (p.Glu1273del) c.3649_3651del (p.Glu1217del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123377045G>A | CA374869929 | CRB2 | c.3841G>A (p.Glu1281Lys) c.2845G>A (p.Glu949Lys) n.2955G>A c.3814G>A (p.Glu1272Lys) c.3646G>A (p.Glu1216Lys) | |
| 9 | g.123377045G>C | CA374869930 | CRB2 | c.3841G>C (p.Glu1281Gln) c.2845G>C (p.Glu949Gln) n.2955G>C c.3814G>C (p.Glu1272Gln) c.3646G>C (p.Glu1216Gln) | |
| 9 | g.123377045G>T | CA374869931 | CRB2 | c.3841G>T (p.Glu1281Ter) c.2845G>T (p.Glu949Ter) n.2955G>T c.3814G>T (p.Glu1272Ter) c.3646G>T (p.Glu1216Ter) | gnomAD v4 |
| 9 | g.123377046A>C | CA374869932 | CRB2 | c.3842A>C (p.Glu1281Ala) c.2846A>C (p.Glu949Ala) n.2956A>C c.3815A>C (p.Glu1272Ala) c.3647A>C (p.Glu1216Ala) | |
| 9 | g.123377046A>G | CA374869933 | CRB2 | c.3842A>G (p.Glu1281Gly) c.2846A>G (p.Glu949Gly) n.2956A>G c.3815A>G (p.Glu1272Gly) c.3647A>G (p.Glu1216Gly) | |
| 9 | g.123377046A>T | CA374869934 | CRB2 | c.3842A>T (p.Glu1281Val) c.2846A>T (p.Glu949Val) n.2956A>T c.3815A>T (p.Glu1272Val) c.3647A>T (p.Glu1216Val) | |
| 9 | g.123377047G>A | CA467091240 | CRB2 | c.3843G>A (p.Glu1281=) c.2847G>A (p.Glu949=) n.2957G>A c.3816G>A (p.Glu1272=) c.3648G>A (p.Glu1216=) | |
| 9 | g.123377047G>C | CA374869935 | CRB2 | c.3843G>C (p.Glu1281Asp) c.2847G>C (p.Glu949Asp) n.2957G>C c.3816G>C (p.Glu1272Asp) c.3648G>C (p.Glu1216Asp) | gnomAD v4 |
| 9 | g.123377047G>T | CA374869936 | CRB2 | c.3843G>T (p.Glu1281Asp) c.2847G>T (p.Glu949Asp) n.2957G>T c.3816G>T (p.Glu1272Asp) c.3648G>T (p.Glu1216Asp) | gnomAD v4 |
| 9 | g.123377047_123377051delinsGGAGA | CA1877946811 | CRB2 | c.3843_3847delinsGGAGA (p.Glu1281=) c.2847_2851delinsGGAGA (p.Glu949=) n.2957_2961delinsGGAGA c.3816_3820delinsGGAGA (p.Glu1272=) c.3648_3652delinsGGAGA (p.Glu1216=) | |
| 9 | g.123377048G>A | CA374869937 | CRB2 | c.3844G>A (p.Glu1282Lys) c.2848G>A (p.Glu950Lys) n.2958G>A c.3817G>A (p.Glu1273Lys) c.3649G>A (p.Glu1217Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.123377048G>C | CA374869938 | CRB2 | c.3844G>C (p.Glu1282Gln) c.2848G>C (p.Glu950Gln) n.2958G>C c.3817G>C (p.Glu1273Gln) c.3649G>C (p.Glu1217Gln) | |
| 9 | g.123377048G= | CA1877946815 | CRB2 | c.3844G= (p.Glu1282=) c.2848G= (p.Glu950=) n.2958G= c.3817G= (p.Glu1273=) c.3649G= (p.Glu1217=) | |
| 9 | g.123377048G>T | CA374869939 | CRB2 | c.3844G>T (p.Glu1282Ter) c.2848G>T (p.Glu950Ter) n.2958G>T c.3817G>T (p.Glu1273Ter) c.3649G>T (p.Glu1217Ter) | |
| 9 | g.123377050_123377053del | CA859794773 | CRB2 | c.3846_3849del (p.Glu1282AspfsTer?) c.2850_2853del (p.Glu950AspfsTer?) n.2960_2963del c.3819_3822del (p.Glu1273AspfsTer?) c.3651_3654del (p.Glu1217AspfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123377049A>C | CA374869942 | CRB2 | c.3845A>C (p.Glu1282Ala) c.2849A>C (p.Glu950Ala) n.2959A>C c.3818A>C (p.Glu1273Ala) c.3650A>C (p.Glu1217Ala) | |
| 9 | g.123377049A>G | CA374869940 | CRB2 | c.3845A>G (p.Glu1282Gly) c.2849A>G (p.Glu950Gly) n.2959A>G c.3818A>G (p.Glu1273Gly) c.3650A>G (p.Glu1217Gly) | gnomAD v4 |
| 9 | g.123377049A>T | CA374869941 | CRB2 | c.3845A>T (p.Glu1282Val) c.2849A>T (p.Glu950Val) n.2959A>T c.3818A>T (p.Glu1273Val) c.3650A>T (p.Glu1217Val) | |
| 9 | g.123377050G>A | CA467091266 | CRB2 | c.3846G>A (p.Glu1282=) c.2850G>A (p.Glu950=) n.2960G>A c.3819G>A (p.Glu1273=) c.3651G>A (p.Glu1217=) | |
| 9 | g.123377050G>C | CA374869943 | CRB2 | c.3846G>C (p.Glu1282Asp) c.2850G>C (p.Glu950Asp) n.2960G>C c.3819G>C (p.Glu1273Asp) c.3651G>C (p.Glu1217Asp) | |
| 9 | g.123377050G>T | CA374869944 | CRB2 | c.3846G>T (p.Glu1282Asp) c.2850G>T (p.Glu950Asp) n.2960G>T c.3819G>T (p.Glu1273Asp) c.3651G>T (p.Glu1217Asp) | gnomAD v4 |
| 9 | g.123377051A>C | CA467091274 | CRB2 | c.3847A>C (p.Arg1283=) c.2851A>C (p.Arg951=) n.2961A>C c.3820A>C (p.Arg1274=) c.3652A>C (p.Arg1218=) | |
| 9 | g.123377051A>G | CA374869945 | CRB2 | c.3847A>G (p.Arg1283Gly) c.2851A>G (p.Arg951Gly) n.2961A>G c.3820A>G (p.Arg1274Gly) c.3652A>G (p.Arg1218Gly) | |
| 9 | g.123377051A>T | CA374869946 | CRB2 | c.3847A>T (p.Arg1283Ter) c.2851A>T (p.Arg951Ter) n.2961A>T c.3820A>T (p.Arg1274Ter) c.3652A>T (p.Arg1218Ter) | |
| 9 | g.123377052G>A | CA374869947 | CRB2 | c.3848G>A (p.Arg1283Lys) c.2852G>A (p.Arg951Lys) n.2962G>A c.3821G>A (p.Arg1274Lys) c.3653G>A (p.Arg1218Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123377052G>C | CA5232624 | CRB2 | c.3848G>C (p.Arg1283Thr) c.2852G>C (p.Arg951Thr) n.2962G>C c.3821G>C (p.Arg1274Thr) c.3653G>C (p.Arg1218Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123377052G= | CA1877946818 | CRB2 | c.3848G= (p.Arg1283=) c.2852G= (p.Arg951=) n.2962G= c.3821G= (p.Arg1274=) c.3653G= (p.Arg1218=) | |
| 9 | g.123377052G>T | CA374869948 | CRB2 | c.3848G>T (p.Arg1283Ile) c.2852G>T (p.Arg951Ile) n.2962G>T c.3821G>T (p.Arg1274Ile) c.3653G>T (p.Arg1218Ile) | gnomAD v4 |
| 9 | g.123377053A>C | CA374869949 | CRB2 | c.3849A>C (p.Arg1283Ser) c.2853A>C (p.Arg951Ser) n.2963A>C c.3822A>C (p.Arg1274Ser) c.3654A>C (p.Arg1218Ser) | |
| 9 | g.123377053A>G | CA467091293 | CRB2 | c.3849A>G (p.Arg1283=) c.2853A>G (p.Arg951=) n.2963A>G c.3822A>G (p.Arg1274=) c.3654A>G (p.Arg1218=) | |
| 9 | g.123377053A>T | CA374869950 | CRB2 | c.3849A>T (p.Arg1283Ser) c.2853A>T (p.Arg951Ser) n.2963A>T c.3822A>T (p.Arg1274Ser) c.3654A>T (p.Arg1218Ser) | |
| 9 | g.123377054C>A | CA374869951 | CRB2 | c.3850C>A (p.Leu1284Ile) c.2854C>A (p.Leu952Ile) n.2964C>A c.3823C>A (p.Leu1275Ile) c.3655C>A (p.Leu1219Ile) | gnomAD v4 |
| 9 | g.123377054C>G | CA374869952 | CRB2 | c.3850C>G (p.Leu1284Val) c.2854C>G (p.Leu952Val) n.2964C>G c.3823C>G (p.Leu1275Val) c.3655C>G (p.Leu1219Val) | |
| 9 | g.123377054C>T | CA374869953 | CRB2 | c.3850C>T (p.Leu1284Phe) c.2854C>T (p.Leu952Phe) n.2964C>T c.3823C>T (p.Leu1275Phe) c.3655C>T (p.Leu1219Phe) | |
| 9 | g.123377055T>A | CA374869955 | CRB2 | c.3851T>A (p.Leu1284His) c.2855T>A (p.Leu952His) n.2965T>A c.3824T>A (p.Leu1275His) c.3656T>A (p.Leu1219His) | |
| 9 | g.123377055T>C | CA374869956 | CRB2 | c.3851T>C (p.Leu1284Pro) c.2855T>C (p.Leu952Pro) n.2965T>C c.3824T>C (p.Leu1275Pro) c.3656T>C (p.Leu1219Pro) | |
| 9 | g.123377055T>G | CA374869954 | CRB2 | c.3851T>G (p.Leu1284Arg) c.2855T>G (p.Leu952Arg) n.2965T>G c.3824T>G (p.Leu1275Arg) c.3656T>G (p.Leu1219Arg) | |
| 9 | g.123377056C>A | CA467091311 | CRB2 | c.3852C>A (p.Leu1284=) c.2856C>A (p.Leu952=) n.2966C>A c.3825C>A (p.Leu1275=) c.3657C>A (p.Leu1219=) | gnomAD v4 |
| 9 | g.123377056C= | CA1877946825 | CRB2 | c.3852C= (p.Leu1284=) c.2856C= (p.Leu952=) n.2966C= c.3825C= (p.Leu1275=) c.3657C= (p.Leu1219=) | |
| 9 | g.123377056C>G | CA467091317 | CRB2 | c.3852C>G (p.Leu1284=) c.2856C>G (p.Leu952=) n.2966C>G c.3825C>G (p.Leu1275=) c.3657C>G (p.Leu1219=) | |
| 9 | g.123377056C>T | CA199643130 | CRB2 | c.3852C>T (p.Leu1284=) c.2856C>T (p.Leu952=) n.2966C>T c.3825C>T (p.Leu1275=) c.3657C>T (p.Leu1219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377057A>C | CA374869957 | CRB2 | c.3853A>C (p.Ile1285Leu) c.2857A>C (p.Ile953Leu) n.2967A>C c.3826A>C (p.Ile1276Leu) c.3658A>C (p.Ile1220Leu) | |
| 9 | g.123377057A>G | CA374869958 | CRB2 | c.3853A>G (p.Ile1285Val) c.2857A>G (p.Ile953Val) n.2967A>G c.3826A>G (p.Ile1276Val) c.3658A>G (p.Ile1220Val) | gnomAD v4 |
| 9 | g.123377057A>T | CA374869959 | CRB2 | c.3853A>T (p.Ile1285Phe) c.2857A>T (p.Ile953Phe) n.2967A>T c.3826A>T (p.Ile1276Phe) c.3658A>T (p.Ile1220Phe) | |
| 9 | g.123377058T>A | CA374869960 | CRB2 | c.3854T>A (p.Ile1285Asn) c.2858T>A (p.Ile953Asn) n.2968T>A c.3827T>A (p.Ile1276Asn) c.3659T>A (p.Ile1220Asn) | |
| 9 | g.123377058T>C | CA374869961 | CRB2 | c.3854T>C (p.Ile1285Thr) c.2858T>C (p.Ile953Thr) n.2968T>C c.3827T>C (p.Ile1276Thr) c.3659T>C (p.Ile1220Thr) | |
| 9 | g.123377058T>G | CA374869962 | CRB2 | c.3854T>G (p.Ile1285Ser) c.2858T>G (p.Ile953Ser) n.2968T>G c.3827T>G (p.Ile1276Ser) c.3659T>G (p.Ile1220Ser) | |
| 9 | g.123377059C>A | CA467091333 | CRB2 | c.3855C>A (p.Ile1285=) c.2859C>A (p.Ile953=) n.2969C>A c.3828C>A (p.Ile1276=) c.3660C>A (p.Ile1220=) | gnomAD v4 |
| 9 | g.123377059C= | CA1877946827 | CRB2 | c.3855C= (p.Ile1285=) c.2859C= (p.Ile953=) n.2969C= c.3828C= (p.Ile1276=) c.3660C= (p.Ile1220=) | |
| 9 | g.123377059C>G | CA374869963 | CRB2 | c.3855C>G (p.Ile1285Met) c.2859C>G (p.Ile953Met) n.2969C>G c.3828C>G (p.Ile1276Met) c.3660C>G (p.Ile1220Met) | |
| 9 | g.123377059C>T | CA467091336 | CRB2 | c.3855C>T (p.Ile1285=) c.2859C>T (p.Ile953=) n.2969C>T c.3828C>T (p.Ile1276=) c.3660C>T (p.Ile1220=) | ClinVar dbSNP |
| 9 | g.123377060T>A | CA374869964 | CRB2 | c.3856T>A (p.Ter1286Lys) c.2860T>A (p.Ter954Lys) n.2970T>A c.3829T>A (p.Ter1277Lys) c.3661T>A (p.Ter1221Lys) | |
| 9 | g.123377060T>C | CA374869965 | CRB2 | c.3856T>C (p.Ter1286Gln) c.2860T>C (p.Ter954Gln) n.2970T>C c.3829T>C (p.Ter1277Gln) c.3661T>C (p.Ter1221Gln) | |
| 9 | g.123377060T>G | CA374869966 | CRB2 | c.3856T>G (p.Ter1286Glu) c.2860T>G (p.Ter954Glu) n.2970T>G c.3829T>G (p.Ter1277Glu) c.3661T>G (p.Ter1221Glu) | |
| 9 | g.123377061A>C | CA374869967 | CRB2 | c.3857A>C (p.Ter1286Ser) c.2861A>C (p.Ter954Ser) n.2971A>C c.3830A>C (p.Ter1277Ser) c.3662A>C (p.Ter1221Ser) | |
| 9 | g.123377061A>G | CA374869968 | CRB2 | c.3857A>G (p.Ter1286Trp) c.2861A>G (p.Ter954Trp) n.2971A>G c.3830A>G (p.Ter1277Trp) c.3662A>G (p.Ter1221Trp) | gnomAD v4 |
| 9 | g.123377061A>T | CA374869969 | CRB2 | c.3857A>T (p.Ter1286Leu) c.2861A>T (p.Ter954Leu) n.2971A>T c.3830A>T (p.Ter1277Leu) c.3662A>T (p.Ter1221Leu) | |
| 9 | g.123377062G>A | CA467091356 | CRB2 | c.3858G>A (p.Ter1286=) c.2862G>A (p.Ter954=) n.2972G>A c.3831G>A (p.Ter1277=) c.3663G>A (p.Ter1221=) | |
| 9 | g.123377062G>C | CA374869971 | CRB2 | c.3858G>C (p.Ter1286Tyr) c.2862G>C (p.Ter954Tyr) n.2972G>C c.3831G>C (p.Ter1277Tyr) c.3663G>C (p.Ter1221Tyr) | COSMIC |
| 9 | g.123377062G>T | CA374869970 | CRB2 | c.3858G>T (p.Ter1286Tyr) c.2862G>T (p.Ter954Tyr) n.2972G>T c.3831G>T (p.Ter1277Tyr) c.3663G>T (p.Ter1221Tyr) | |
| 9 | g.123377063G>A | CA2691592058 | CRB2 | c.*1G>A (n.*1G>A) n.2973G>A | gnomAD v4 |
| 9 | g.123377064C>A | CA2691592059 | CRB2 | c.*2C>A (n.*2C>A) n.2974C>A | gnomAD v4 |
| 9 | g.123377065C>A | CA2691592060 | CRB2 | c.*3C>A (n.*3C>A) n.2975C>A | gnomAD v4 |
| 9 | g.123377067G>A | CA2691592061 | CRB2 | c.*5G>A (n.*5G>A) n.2977G>A | gnomAD v4 |
| 9 | g.123377067G>T | CA2691592062 | CRB2 | c.*5G>T (n.*5G>T) n.2977G>T | gnomAD v4 |
| 9 | g.123377068C>A | CA1877946835 | CRB2 | c.*6C>A (n.*6C>A) n.2978C>A | dbSNP gnomAD v4 |
| 9 | g.123377068C= | CA1877946834 | CRB2 | c.*6C= (n.*6C=) n.2978C= | |
| 9 | g.123377068C>G | CA5232625 | CRB2 | c.*6C>G (n.*6C>G) n.2978C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377068C>T | CA2691592063 | CRB2 | c.*6C>T (n.*6C>T) n.2978C>T | gnomAD v4 |
| 9 | g.123377069C>A | CA2691592064 | CRB2 | c.*7C>A (n.*7C>A) n.2979C>A | gnomAD v4 |
| 9 | g.123377070T>C | CA5232626 | CRB2 | c.*8T>C (n.*8T>C) n.2980T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123377070T= | CA1877946838 | CRB2 | c.*8T= (n.*8T=) n.2980T= | |
| 9 | g.123377070dup | CA2691592065 | CRB2 | c.*8dup (n.*8dup) n.2980dup | gnomAD v4 |
| 9 | g.123377071G>A | CA199643135 | CRB2 | c.*9G>A (n.*9G>A) n.2981G>A | dbSNP gnomAD v4 |
| 9 | g.123377071G= | CA1877946841 | CRB2 | c.*9G= (n.*9G=) n.2981G= | |
| 9 | g.123377072G>A | CA2691592066 | CRB2 | c.*10G>A (n.*10G>A) n.2982G>A | gnomAD v4 |
| 9 | g.123377072G>C | CA2579446753 | CRB2 | c.*10G>C (n.*10G>C) n.2982G>C | gnomAD v4 |
| 9 | g.123377072G>T | CA2691592067 | CRB2 | c.*10G>T (n.*10G>T) n.2982G>T | gnomAD v4 |
| 9 | g.123377073C= | CA1877946843 | CRB2 | c.*11C= (n.*11C=) n.2983C= | |
| 9 | g.123377073C>T | CA199643138 | CRB2 | c.*11C>T (n.*11C>T) n.2983C>T | dbSNP gnomAD v4 |
| 9 | g.123377074_123377075insA | CA653866676 | CRB2 | c.*12_*13insA (n.*12_*13insA) n.2984_2985insA | COSMIC |
| 9 | g.123377075G>A | CA2579446754 | CRB2 | c.*13G>A (n.*13G>A) n.2985G>A | gnomAD v4 |
| 9 | g.123377075G>T | CA2691592068 | CRB2 | c.*13G>T (n.*13G>T) n.2985G>T | gnomAD v4 |
| 9 | g.123377076C= | CA1877946846 | CRB2 | c.*14C= (n.*14C=) n.2986C= | |
| 9 | g.123377076C>T | CA590936447 | CRB2 | c.*14C>T (n.*14C>T) n.2986C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377077T>C | CA2691592069 | CRB2 | c.*15T>C (n.*15T>C) n.2987T>C | gnomAD v4 |
| 9 | g.123377078G= | CA1877946848 | CRB2 | c.*16G= (n.*16G=) n.2988G= | |
| 9 | g.123377078G>T | CA2691592070 | CRB2 | c.*16G>T (n.*16G>T) n.2988G>T | gnomAD v4 |
| 9 | g.123377079G>A | CA2691592071 | CRB2 | c.*17G>A (n.*17G>A) n.2989G>A | gnomAD v4 |
| 9 | g.123377079G= | CA1877946851 | CRB2 | c.*17G= (n.*17G=) n.2989G= | |
| 9 | g.123377079G>T | CA1877946852 | CRB2 | c.*17G>T (n.*17G>T) n.2989G>T | dbSNP gnomAD v4 |
| 9 | g.123377084_123377089dup | CA590936448 | CRB2 | c.*22_*27dup (n.*22_*27dup) n.2994_2999dup | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377080C>A | CA2691592072 | CRB2 | c.*18C>A (n.*18C>A) n.2990C>A | dbSNP gnomAD v4 |
| 9 | g.123377081A>C | CA2691592073 | CRB2 | c.*19A>C (n.*19A>C) n.2991A>C | gnomAD v4 |
| 9 | g.123377082C>A | CA2691592074 | CRB2 | c.*20C>A (n.*20C>A) n.2992C>A | gnomAD v4 |
| 9 | g.123377082C= | CA1877946858 | CRB2 | c.*20C= (n.*20C=) n.2992C= | |
| 9 | g.123377082C>G | CA199643141 | CRB2 | c.*20C>G (n.*20C>G) n.2992C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377082C>T | CA1877946856 | CRB2 | c.*20C>T (n.*20C>T) n.2992C>T | dbSNP gnomAD v4 |
| 9 | g.123377083C>A | CA2579446755 | CRB2 | c.*21C>A (n.*21C>A) n.2993C>A | gnomAD v4 |
| 9 | g.123377083C= | CA1877946859 | CRB2 | c.*21C= (n.*21C=) n.2993C= | |
| 9 | g.123377083C>T | CA199643143 | CRB2 | c.*21C>T (n.*21C>T) n.2993C>T | dbSNP gnomAD v4 |
| 9 | g.123377084A= | CA1877946862 | CRB2 | c.*22A= (n.*22A=) n.2994A= | |
| 9 | g.123377084A>C | CA5232627 | CRB2 | c.*22A>C (n.*22A>C) n.2994A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123377084A>G | CA2691592075 | CRB2 | c.*22A>G (n.*22A>G) n.2994A>G | gnomAD v4 |
| 9 | g.123377085G>A | CA590936449 | CRB2 | c.*23G>A (n.*23G>A) n.2995G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377085G= | CA1877946871 | CRB2 | c.*23G= (n.*23G=) n.2995G= | |
| 9 | g.123377085G>T | CA2691592076 | CRB2 | c.*23G>T (n.*23G>T) n.2995G>T | gnomAD v4 |
| 9 | g.123377086C>A | CA2691592077 | CRB2 | c.*24C>A (n.*24C>A) n.2996C>A | gnomAD v4 |
| 9 | g.123377087A>C | CA2785875864 | CRB2 | c.*25A>C (n.*25A>C) n.2997A>C | |
| 9 | g.123377087_123377141delinsACCTGGAGGTCCTGAATGGTTTCTACCTGGAGACCCAAGGAAGCTGCTTCCAGGG | CA1877946873 | CRB2 | c.*25_*79delinsACCTGGAGGTCCTGAATGGTTTCTACCTGGAGACCCAAGGAAGCTGCTTCCAGGG (n.*25_*79delinsACCTGGAGGTCCTGAATGGTTTCTACCTGGAGACCCAAGGAAGCTGCTTCCAGGG) n.2997_3051delinsACCTGGAGGTCCTGAATGGTTTCTACCTGGAGACCCAAGGAAGCTGCTTCCAGGG | |
| 9 | g.123377088C>A | CA2691592079 | CRB2 | c.*26C>A (n.*26C>A) n.2998C>A | gnomAD v4 |
| 9 | g.123377088C>T | CA2691592078 | CRB2 | c.*26C>T (n.*26C>T) n.2998C>T | gnomAD v4 |
| 9 | g.123377089_123377142del | CA590936450 | CRB2 | c.*27_*80del (n.*27_*80del) n.2999_3052del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123377089C>A | CA653866679 | CRB2 | c.*27C>A (n.*27C>A) n.2999C>A | gnomAD v4 COSMIC |
| 9 | g.123377090T>C | CA2691592080 | CRB2 | c.*28T>C (n.*28T>C) n.3000T>C | gnomAD v4 |
| 9 | g.123377090_123377091delinsTG | CA1877946875 | CRB2 | c.*28_*29delinsTG (n.*28_*29delinsTG) n.3000_3001delinsTG | |
| 9 | g.123377091G>A | CA1877946880 | CRB2 | c.*29G>A (n.*29G>A) n.3001G>A | dbSNP gnomAD v4 |
| 9 | g.123377091G= | CA1877946879 | CRB2 | c.*29G= (n.*29G=) n.3001G= | |
| 9 | g.123377092del | CA5232628 | CRB2 | c.*30del (n.*30del) n.3002del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377092G>A | CA2691592081 | CRB2 | c.*30G>A (n.*30G>A) n.3002G>A | gnomAD v4 |
| 9 | g.123377093A>G | CA2691592082 | CRB2 | c.*31A>G (n.*31A>G) n.3003A>G | gnomAD v4 |
| 9 | g.123377093_123377094delinsAG | CA1877946882 | CRB2 | c.*31_*32delinsAG (n.*31_*32delinsAG) n.3003_3004delinsAG | |
| 9 | g.123377095del | CA1128947767 | CRB2 | c.*33del (n.*33del) n.3005del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123377095G>A | CA2691592083 | CRB2 | c.*33G>A (n.*33G>A) n.3005G>A | gnomAD v4 |
| 9 | g.123377095G>T | CA2691592084 | CRB2 | c.*33G>T (n.*33G>T) n.3005G>T | gnomAD v4 |
| 9 | g.123377096T>G | CA1877946885 | CRB2 | c.*34T>G (n.*34T>G) n.3006T>G | dbSNP |
| 9 | g.123377096T= | CA1877946884 | CRB2 | c.*34T= (n.*34T=) n.3006T= | |
| 9 | g.123377097C>A | CA2691592085 | CRB2 | c.*35C>A (n.*35C>A) n.3007C>A | gnomAD v4 |
| 9 | g.123377097C= | CA1877946888 | CRB2 | c.*35C= (n.*35C=) n.3007C= | |
| 9 | g.123377097C>G | CA199643150 | CRB2 | c.*35C>G (n.*35C>G) n.3007C>G | dbSNP |
| 9 | g.123377097C>T | CA5232629 | CRB2 | c.*35C>T (n.*35C>T) n.3007C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377098C>A | CA2691592086 | CRB2 | c.*36C>A (n.*36C>A) n.3008C>A | gnomAD v4 |
| 9 | g.123377098C= | CA1877946892 | CRB2 | c.*36C= (n.*36C=) n.3008C= | |
| 9 | g.123377098C>G | CA2691592087 | CRB2 | c.*36C>G (n.*36C>G) n.3008C>G | gnomAD v4 |
| 9 | g.123377098C>T | CA1128947768 | CRB2 | c.*36C>T (n.*36C>T) n.3008C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123377099T>C | CA5232630 | CRB2 | c.*37T>C (n.*37T>C) n.3009T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123377099T= | CA1877946897 | CRB2 | c.*37T= (n.*37T=) n.3009T= |