Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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 |