Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.197434845_197434927dup	CA2740090447	CRB1	c.2982_3064dup (p.Ser1022LysfsTer28) c.1863_1945dup (p.Ser649LysfsTer28) c.1125_1207dup (p.Ser403LysfsTer28) c.2646_2728dup (p.Ser910LysfsTer28) c.2910_2992dup (p.Ser998LysfsTer28) c.2129-755_2129-673dup (n.2129-755_2129-673dup) n.2983_3065dup n.3191_3273dup c.2400_2482dup (p.Ser828LysfsTer28) c.1425_1507dup (p.Ser503LysfsTer28) c.2139_2221dup (p.Ser741LysfsTer28) c.3117_3199dup (p.Ser1067LysfsTer28) n.2935_3017dup n.3143_3225dup	ClinVar
1	g.197434903A>C	CA344044835	CRB1	c.3040A>C (p.Ser1014Arg) c.1921A>C (p.Ser641Arg) c.1183A>C (p.Ser395Arg) c.2704A>C (p.Ser902Arg) c.2968A>C (p.Ser990Arg) c.2129-697A>C (n.2129-697A>C) n.3041A>C n.3249A>C c.2458A>C (p.Ser820Arg) c.1483A>C (p.Ser495Arg) c.2197A>C (p.Ser733Arg) c.3175A>C (p.Ser1059Arg) n.2993A>C n.3201A>C
1	g.197434903A>G	CA344044836	CRB1	c.3040A>G (p.Ser1014Gly) c.1921A>G (p.Ser641Gly) c.1183A>G (p.Ser395Gly) c.2704A>G (p.Ser902Gly) c.2968A>G (p.Ser990Gly) c.2129-697A>G (n.2129-697A>G) n.3041A>G n.3249A>G c.2458A>G (p.Ser820Gly) c.1483A>G (p.Ser495Gly) c.2197A>G (p.Ser733Gly) c.3175A>G (p.Ser1059Gly) n.2993A>G n.3201A>G
1	g.197434903A>T	CA344044838	CRB1	c.3040A>T (p.Ser1014Cys) c.1921A>T (p.Ser641Cys) c.1183A>T (p.Ser395Cys) c.2704A>T (p.Ser902Cys) c.2968A>T (p.Ser990Cys) c.2129-697A>T (n.2129-697A>T) n.3041A>T n.3249A>T c.2458A>T (p.Ser820Cys) c.1483A>T (p.Ser495Cys) c.2197A>T (p.Ser733Cys) c.3175A>T (p.Ser1059Cys) n.2993A>T n.3201A>T
1	g.197434904G>A	CA1312265	CRB1	c.3041G>A (p.Ser1014Asn) c.1922G>A (p.Ser641Asn) c.1184G>A (p.Ser395Asn) c.2705G>A (p.Ser902Asn) c.2969G>A (p.Ser990Asn) c.2129-696G>A (n.2129-696G>A) n.3042G>A n.3250G>A c.2459G>A (p.Ser820Asn) c.1484G>A (p.Ser495Asn) c.2198G>A (p.Ser733Asn) c.3176G>A (p.Ser1059Asn) n.2994G>A n.3202G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.197434904G>C	CA344044844	CRB1	c.3041G>C (p.Ser1014Thr) c.1922G>C (p.Ser641Thr) c.1184G>C (p.Ser395Thr) c.2705G>C (p.Ser902Thr) c.2969G>C (p.Ser990Thr) c.2129-696G>C (n.2129-696G>C) n.3042G>C n.3250G>C c.2459G>C (p.Ser820Thr) c.1484G>C (p.Ser495Thr) c.2198G>C (p.Ser733Thr) c.3176G>C (p.Ser1059Thr) n.2994G>C n.3202G>C
1	g.197434904G=	CA1145283285	CRB1	c.3041G= (p.Ser1014=) c.1922G= (p.Ser641=) c.1184G= (p.Ser395=) c.2705G= (p.Ser902=) c.2969G= (p.Ser990=) c.2129-696G= (n.2129-696G=) n.3042G= n.3250G= c.2459G= (p.Ser820=) c.1484G= (p.Ser495=) c.2198G= (p.Ser733=) c.3176G= (p.Ser1059=) n.2994G= n.3202G=
1	g.197434904G>T	CA344044847	CRB1	c.3041G>T (p.Ser1014Ile) c.1922G>T (p.Ser641Ile) c.1184G>T (p.Ser395Ile) c.2705G>T (p.Ser902Ile) c.2969G>T (p.Ser990Ile) c.2129-696G>T (n.2129-696G>T) n.3042G>T n.3250G>T c.2459G>T (p.Ser820Ile) c.1484G>T (p.Ser495Ile) c.2198G>T (p.Ser733Ile) c.3176G>T (p.Ser1059Ile) n.2994G>T n.3202G>T
1	g.197434905T>A	CA344044859	CRB1	c.3042T>A (p.Ser1014Arg) c.1923T>A (p.Ser641Arg) c.1185T>A (p.Ser395Arg) c.2706T>A (p.Ser902Arg) c.2970T>A (p.Ser990Arg) c.2129-695T>A (n.2129-695T>A) n.3043T>A n.3251T>A c.2460T>A (p.Ser820Arg) c.1485T>A (p.Ser495Arg) c.2199T>A (p.Ser733Arg) c.3177T>A (p.Ser1059Arg) n.2995T>A n.3203T>A
1	g.197434905T>C	CA1312266	CRB1	c.3042T>C (p.Ser1014=) c.1923T>C (p.Ser641=) c.1185T>C (p.Ser395=) c.2706T>C (p.Ser902=) c.2970T>C (p.Ser990=) c.2129-695T>C (n.2129-695T>C) n.3043T>C n.3251T>C c.2460T>C (p.Ser820=) c.1485T>C (p.Ser495=) c.2199T>C (p.Ser733=) c.3177T>C (p.Ser1059=) n.2995T>C n.3203T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.197434905T>G	CA344044868	CRB1	c.3042T>G (p.Ser1014Arg) c.1923T>G (p.Ser641Arg) c.1185T>G (p.Ser395Arg) c.2706T>G (p.Ser902Arg) c.2970T>G (p.Ser990Arg) c.2129-695T>G (n.2129-695T>G) n.3043T>G n.3251T>G c.2460T>G (p.Ser820Arg) c.1485T>G (p.Ser495Arg) c.2199T>G (p.Ser733Arg) c.3177T>G (p.Ser1059Arg) n.2995T>G n.3203T>G
1	g.197434905T=	CA1143993964	CRB1	c.3042T= (p.Ser1014=) c.1923T= (p.Ser641=) c.1185T= (p.Ser395=) c.2706T= (p.Ser902=) c.2970T= (p.Ser990=) c.2129-695T= (n.2129-695T=) n.3043T= n.3251T= c.2460T= (p.Ser820=) c.1485T= (p.Ser495=) c.2199T= (p.Ser733=) c.3177T= (p.Ser1059=) n.2995T= n.3203T=
1	g.197434906G>A	CA344044882	CRB1	c.3043G>A (p.Gly1015Ser) c.1924G>A (p.Gly642Ser) c.1186G>A (p.Gly396Ser) c.2707G>A (p.Gly903Ser) c.2971G>A (p.Gly991Ser) c.2129-694G>A (n.2129-694G>A) n.3044G>A n.3252G>A c.2461G>A (p.Gly821Ser) c.1486G>A (p.Gly496Ser) c.2200G>A (p.Gly734Ser) c.3178G>A (p.Gly1060Ser) n.2996G>A n.3204G>A
1	g.197434906G>C	CA344044881	CRB1	c.3043G>C (p.Gly1015Arg) c.1924G>C (p.Gly642Arg) c.1186G>C (p.Gly396Arg) c.2707G>C (p.Gly903Arg) c.2971G>C (p.Gly991Arg) c.2129-694G>C (n.2129-694G>C) n.3044G>C n.3252G>C c.2461G>C (p.Gly821Arg) c.1486G>C (p.Gly496Arg) c.2200G>C (p.Gly734Arg) c.3178G>C (p.Gly1060Arg) n.2996G>C n.3204G>C
1	g.197434906G>T	CA344044877	CRB1	c.3043G>T (p.Gly1015Cys) c.1924G>T (p.Gly642Cys) c.1186G>T (p.Gly396Cys) c.2707G>T (p.Gly903Cys) c.2971G>T (p.Gly991Cys) c.2129-694G>T (n.2129-694G>T) n.3044G>T n.3252G>T c.2461G>T (p.Gly821Cys) c.1486G>T (p.Gly496Cys) c.2200G>T (p.Gly734Cys) c.3178G>T (p.Gly1060Cys) n.2996G>T n.3204G>T
1	g.197434907G>A	CA344044883	CRB1	c.3044G>A (p.Gly1015Asp) c.1925G>A (p.Gly642Asp) c.1187G>A (p.Gly396Asp) c.2708G>A (p.Gly903Asp) c.2972G>A (p.Gly991Asp) c.2129-693G>A (n.2129-693G>A) n.3045G>A n.3253G>A c.2462G>A (p.Gly821Asp) c.1487G>A (p.Gly496Asp) c.2201G>A (p.Gly734Asp) c.3179G>A (p.Gly1060Asp) n.2997G>A n.3205G>A	dbSNP gnomAD v4
1	g.197434907G>C	CA344044885	CRB1	c.3044G>C (p.Gly1015Ala) c.1925G>C (p.Gly642Ala) c.1187G>C (p.Gly396Ala) c.2708G>C (p.Gly903Ala) c.2972G>C (p.Gly991Ala) c.2129-693G>C (n.2129-693G>C) n.3045G>C n.3253G>C c.2462G>C (p.Gly821Ala) c.1487G>C (p.Gly496Ala) c.2201G>C (p.Gly734Ala) c.3179G>C (p.Gly1060Ala) n.2997G>C n.3205G>C
1	g.197434907G=	CA1218068713	CRB1	c.3044G= (p.Gly1015=) c.1925G= (p.Gly642=) c.1187G= (p.Gly396=) c.2708G= (p.Gly903=) c.2972G= (p.Gly991=) c.2129-693G= (n.2129-693G=) n.3045G= n.3253G= c.2462G= (p.Gly821=) c.1487G= (p.Gly496=) c.2201G= (p.Gly734=) c.3179G= (p.Gly1060=) n.2997G= n.3205G=
1	g.197434907G>T	CA344044888	CRB1	c.3044G>T (p.Gly1015Val) c.1925G>T (p.Gly642Val) c.1187G>T (p.Gly396Val) c.2708G>T (p.Gly903Val) c.2972G>T (p.Gly991Val) c.2129-693G>T (n.2129-693G>T) n.3045G>T n.3253G>T c.2462G>T (p.Gly821Val) c.1487G>T (p.Gly496Val) c.2201G>T (p.Gly734Val) c.3179G>T (p.Gly1060Val) n.2997G>T n.3205G>T
1	g.197434908C>A	CA422808726	CRB1	c.3045C>A (p.Gly1015=) c.1926C>A (p.Gly642=) c.1188C>A (p.Gly396=) c.2709C>A (p.Gly903=) c.2973C>A (p.Gly991=) c.2129-692C>A (n.2129-692C>A) n.3046C>A n.3254C>A c.2463C>A (p.Gly821=) c.1488C>A (p.Gly496=) c.2202C>A (p.Gly734=) c.3180C>A (p.Gly1060=) n.2998C>A n.3206C>A
1	g.197434908C=	CA1218068714	CRB1	c.3045C= (p.Gly1015=) c.1926C= (p.Gly642=) c.1188C= (p.Gly396=) c.2709C= (p.Gly903=) c.2973C= (p.Gly991=) c.2129-692C= (n.2129-692C=) n.3046C= n.3254C= c.2463C= (p.Gly821=) c.1488C= (p.Gly496=) c.2202C= (p.Gly734=) c.3180C= (p.Gly1060=) n.2998C= n.3206C=
1	g.197434908C>G	CA422808727	CRB1	c.3045C>G (p.Gly1015=) c.1926C>G (p.Gly642=) c.1188C>G (p.Gly396=) c.2709C>G (p.Gly903=) c.2973C>G (p.Gly991=) c.2129-692C>G (n.2129-692C>G) n.3046C>G n.3254C>G c.2463C>G (p.Gly821=) c.1488C>G (p.Gly496=) c.2202C>G (p.Gly734=) c.3180C>G (p.Gly1060=) n.2998C>G n.3206C>G
1	g.197434908C>T	CA35906883	CRB1	c.3045C>T (p.Gly1015=) c.1926C>T (p.Gly642=) c.1188C>T (p.Gly396=) c.2709C>T (p.Gly903=) c.2973C>T (p.Gly991=) c.2129-692C>T (n.2129-692C>T) n.3046C>T n.3254C>T c.2463C>T (p.Gly821=) c.1488C>T (p.Gly496=) c.2202C>T (p.Gly734=) c.3180C>T (p.Gly1060=) n.2998C>T n.3206C>T	dbSNP gnomAD v3 gnomAD v4
1	g.197434909A>C	CA344044891	CRB1	c.3046A>C (p.Asn1016His) c.1927A>C (p.Asn643His) c.1189A>C (p.Asn397His) c.2710A>C (p.Asn904His) c.2974A>C (p.Asn992His) c.2129-691A>C (n.2129-691A>C) n.3047A>C n.3255A>C c.2464A>C (p.Asn822His) c.1489A>C (p.Asn497His) c.2203A>C (p.Asn735His) c.3181A>C (p.Asn1061His) n.2999A>C n.3207A>C
1	g.197434909A>G	CA344044893	CRB1	c.3046A>G (p.Asn1016Asp) c.1927A>G (p.Asn643Asp) c.1189A>G (p.Asn397Asp) c.2710A>G (p.Asn904Asp) c.2974A>G (p.Asn992Asp) c.2129-691A>G (n.2129-691A>G) n.3047A>G n.3255A>G c.2464A>G (p.Asn822Asp) c.1489A>G (p.Asn497Asp) c.2203A>G (p.Asn735Asp) c.3181A>G (p.Asn1061Asp) n.2999A>G n.3207A>G
1	g.197434909A>T	CA344044902	CRB1	c.3046A>T (p.Asn1016Tyr) c.1927A>T (p.Asn643Tyr) c.1189A>T (p.Asn397Tyr) c.2710A>T (p.Asn904Tyr) c.2974A>T (p.Asn992Tyr) c.2129-691A>T (n.2129-691A>T) n.3047A>T n.3255A>T c.2464A>T (p.Asn822Tyr) c.1489A>T (p.Asn497Tyr) c.2203A>T (p.Asn735Tyr) c.3181A>T (p.Asn1061Tyr) n.2999A>T n.3207A>T
1	g.197434910A>C	CA344044910	CRB1	c.3047A>C (p.Asn1016Thr) c.1928A>C (p.Asn643Thr) c.1190A>C (p.Asn397Thr) c.2711A>C (p.Asn904Thr) c.2975A>C (p.Asn992Thr) c.2129-690A>C (n.2129-690A>C) n.3048A>C n.3256A>C c.2465A>C (p.Asn822Thr) c.1490A>C (p.Asn497Thr) c.2204A>C (p.Asn735Thr) c.3182A>C (p.Asn1061Thr) n.3000A>C n.3208A>C
1	g.197434910A>G	CA344044907	CRB1	c.3047A>G (p.Asn1016Ser) c.1928A>G (p.Asn643Ser) c.1190A>G (p.Asn397Ser) c.2711A>G (p.Asn904Ser) c.2975A>G (p.Asn992Ser) c.2129-690A>G (n.2129-690A>G) n.3048A>G n.3256A>G c.2465A>G (p.Asn822Ser) c.1490A>G (p.Asn497Ser) c.2204A>G (p.Asn735Ser) c.3182A>G (p.Asn1061Ser) n.3000A>G n.3208A>G
1	g.197434910A>T	CA344044908	CRB1	c.3047A>T (p.Asn1016Ile) c.1928A>T (p.Asn643Ile) c.1190A>T (p.Asn397Ile) c.2711A>T (p.Asn904Ile) c.2975A>T (p.Asn992Ile) c.2129-690A>T (n.2129-690A>T) n.3048A>T n.3256A>T c.2465A>T (p.Asn822Ile) c.1490A>T (p.Asn497Ile) c.2204A>T (p.Asn735Ile) c.3182A>T (p.Asn1061Ile) n.3000A>T n.3208A>T
1	g.197434911C>A	CA344044915	CRB1	c.3048C>A (p.Asn1016Lys) c.1929C>A (p.Asn643Lys) c.1191C>A (p.Asn397Lys) c.2712C>A (p.Asn904Lys) c.2976C>A (p.Asn992Lys) c.2129-689C>A (n.2129-689C>A) n.3049C>A n.3257C>A c.2466C>A (p.Asn822Lys) c.1491C>A (p.Asn497Lys) c.2205C>A (p.Asn735Lys) c.3183C>A (p.Asn1061Lys) n.3001C>A n.3209C>A
1	g.197434911C>G	CA344044917	CRB1	c.3048C>G (p.Asn1016Lys) c.1929C>G (p.Asn643Lys) c.1191C>G (p.Asn397Lys) c.2712C>G (p.Asn904Lys) c.2976C>G (p.Asn992Lys) c.2129-689C>G (n.2129-689C>G) n.3049C>G n.3257C>G c.2466C>G (p.Asn822Lys) c.1491C>G (p.Asn497Lys) c.2205C>G (p.Asn735Lys) c.3183C>G (p.Asn1061Lys) n.3001C>G n.3209C>G
1	g.197434911C>T	CA422808730	CRB1	c.3048C>T (p.Asn1016=) c.1929C>T (p.Asn643=) c.1191C>T (p.Asn397=) c.2712C>T (p.Asn904=) c.2976C>T (p.Asn992=) c.2129-689C>T (n.2129-689C>T) n.3049C>T n.3257C>T c.2466C>T (p.Asn822=) c.1491C>T (p.Asn497=) c.2205C>T (p.Asn735=) c.3183C>T (p.Asn1061=) n.3001C>T n.3209C>T	ClinVar dbSNP gnomAD v4
1	g.197434912A>C	CA344044919	CRB1	c.3049A>C (p.Ser1017Arg) c.1930A>C (p.Ser644Arg) c.1192A>C (p.Ser398Arg) c.2713A>C (p.Ser905Arg) c.2977A>C (p.Ser993Arg) c.2129-688A>C (n.2129-688A>C) n.3050A>C n.3258A>C c.2467A>C (p.Ser823Arg) c.1492A>C (p.Ser498Arg) c.2206A>C (p.Ser736Arg) c.3184A>C (p.Ser1062Arg) n.3002A>C n.3210A>C
1	g.197434912A>G	CA344044929	CRB1	c.3049A>G (p.Ser1017Gly) c.1930A>G (p.Ser644Gly) c.1192A>G (p.Ser398Gly) c.2713A>G (p.Ser905Gly) c.2977A>G (p.Ser993Gly) c.2129-688A>G (n.2129-688A>G) n.3050A>G n.3258A>G c.2467A>G (p.Ser823Gly) c.1492A>G (p.Ser498Gly) c.2206A>G (p.Ser736Gly) c.3184A>G (p.Ser1062Gly) n.3002A>G n.3210A>G	ClinVar dbSNP
1	g.197434912A>T	CA344044931	CRB1	c.3049A>T (p.Ser1017Cys) c.1930A>T (p.Ser644Cys) c.1192A>T (p.Ser398Cys) c.2713A>T (p.Ser905Cys) c.2977A>T (p.Ser993Cys) c.2129-688A>T (n.2129-688A>T) n.3050A>T n.3258A>T c.2467A>T (p.Ser823Cys) c.1492A>T (p.Ser498Cys) c.2206A>T (p.Ser736Cys) c.3184A>T (p.Ser1062Cys) n.3002A>T n.3210A>T
1	g.197434913G>A	CA344044940	CRB1	c.3050G>A (p.Ser1017Asn) c.1931G>A (p.Ser644Asn) c.1193G>A (p.Ser398Asn) c.2714G>A (p.Ser905Asn) c.2978G>A (p.Ser993Asn) c.2129-687G>A (n.2129-687G>A) n.3051G>A n.3259G>A c.2468G>A (p.Ser823Asn) c.1493G>A (p.Ser498Asn) c.2207G>A (p.Ser736Asn) c.3185G>A (p.Ser1062Asn) n.3003G>A n.3211G>A
1	g.197434913G>C	CA344044957	CRB1	c.3050G>C (p.Ser1017Thr) c.1931G>C (p.Ser644Thr) c.1193G>C (p.Ser398Thr) c.2714G>C (p.Ser905Thr) c.2978G>C (p.Ser993Thr) c.2129-687G>C (n.2129-687G>C) n.3051G>C n.3259G>C c.2468G>C (p.Ser823Thr) c.1493G>C (p.Ser498Thr) c.2207G>C (p.Ser736Thr) c.3185G>C (p.Ser1062Thr) n.3003G>C n.3211G>C
1	g.197434913G>T	CA344044948	CRB1	c.3050G>T (p.Ser1017Ile) c.1931G>T (p.Ser644Ile) c.1193G>T (p.Ser398Ile) c.2714G>T (p.Ser905Ile) c.2978G>T (p.Ser993Ile) c.2129-687G>T (n.2129-687G>T) n.3051G>T n.3259G>T c.2468G>T (p.Ser823Ile) c.1493G>T (p.Ser498Ile) c.2207G>T (p.Ser736Ile) c.3185G>T (p.Ser1062Ile) n.3003G>T n.3211G>T
1	g.197434914C>A	CA344044962	CRB1	c.3051C>A (p.Ser1017Arg) c.1932C>A (p.Ser644Arg) c.1194C>A (p.Ser398Arg) c.2715C>A (p.Ser905Arg) c.2979C>A (p.Ser993Arg) c.2129-686C>A (n.2129-686C>A) n.3052C>A n.3260C>A c.2469C>A (p.Ser823Arg) c.1494C>A (p.Ser498Arg) c.2208C>A (p.Ser736Arg) c.3186C>A (p.Ser1062Arg) n.3004C>A n.3212C>A
1	g.197434914C>G	CA344044976	CRB1	c.3051C>G (p.Ser1017Arg) c.1932C>G (p.Ser644Arg) c.1194C>G (p.Ser398Arg) c.2715C>G (p.Ser905Arg) c.2979C>G (p.Ser993Arg) c.2129-686C>G (n.2129-686C>G) n.3052C>G n.3260C>G c.2469C>G (p.Ser823Arg) c.1494C>G (p.Ser498Arg) c.2208C>G (p.Ser736Arg) c.3186C>G (p.Ser1062Arg) n.3004C>G n.3212C>G
1	g.197434914C>T	CA422808733	CRB1	c.3051C>T (p.Ser1017=) c.1932C>T (p.Ser644=) c.1194C>T (p.Ser398=) c.2715C>T (p.Ser905=) c.2979C>T (p.Ser993=) c.2129-686C>T (n.2129-686C>T) n.3052C>T n.3260C>T c.2469C>T (p.Ser823=) c.1494C>T (p.Ser498=) c.2208C>T (p.Ser736=) c.3186C>T (p.Ser1062=) n.3004C>T n.3212C>T	ClinVar gnomAD v4 COSMIC
1	g.197434915T>A	CA344044980	CRB1	c.3052T>A (p.Phe1018Ile) c.1933T>A (p.Phe645Ile) c.1195T>A (p.Phe399Ile) c.2716T>A (p.Phe906Ile) c.2980T>A (p.Phe994Ile) c.2129-685T>A (n.2129-685T>A) n.3053T>A n.3261T>A c.2470T>A (p.Phe824Ile) c.1495T>A (p.Phe499Ile) c.2209T>A (p.Phe737Ile) c.3187T>A (p.Phe1063Ile) n.3005T>A n.3213T>A
1	g.197434915T>C	CA344044995	CRB1	c.3052T>C (p.Phe1018Leu) c.1933T>C (p.Phe645Leu) c.1195T>C (p.Phe399Leu) c.2716T>C (p.Phe906Leu) c.2980T>C (p.Phe994Leu) c.2129-685T>C (n.2129-685T>C) n.3053T>C n.3261T>C c.2470T>C (p.Phe824Leu) c.1495T>C (p.Phe499Leu) c.2209T>C (p.Phe737Leu) c.3187T>C (p.Phe1063Leu) n.3005T>C n.3213T>C	COSMIC COSMIC
1	g.197434915T>G	CA344044997	CRB1	c.3052T>G (p.Phe1018Val) c.1933T>G (p.Phe645Val) c.1195T>G (p.Phe399Val) c.2716T>G (p.Phe906Val) c.2980T>G (p.Phe994Val) c.2129-685T>G (n.2129-685T>G) n.3053T>G n.3261T>G c.2470T>G (p.Phe824Val) c.1495T>G (p.Phe499Val) c.2209T>G (p.Phe737Val) c.3187T>G (p.Phe1063Val) n.3005T>G n.3213T>G
1	g.197434916T>A	CA344045013	CRB1	c.3053T>A (p.Phe1018Tyr) c.1934T>A (p.Phe645Tyr) c.1196T>A (p.Phe399Tyr) c.2717T>A (p.Phe906Tyr) c.2981T>A (p.Phe994Tyr) c.2129-684T>A (n.2129-684T>A) n.3054T>A n.3262T>A c.2471T>A (p.Phe824Tyr) c.1496T>A (p.Phe499Tyr) c.2210T>A (p.Phe737Tyr) c.3188T>A (p.Phe1063Tyr) n.3006T>A n.3214T>A
1	g.197434916T>C	CA344045017	CRB1	c.3053T>C (p.Phe1018Ser) c.1934T>C (p.Phe645Ser) c.1196T>C (p.Phe399Ser) c.2717T>C (p.Phe906Ser) c.2981T>C (p.Phe994Ser) c.2129-684T>C (n.2129-684T>C) n.3054T>C n.3262T>C c.2471T>C (p.Phe824Ser) c.1496T>C (p.Phe499Ser) c.2210T>C (p.Phe737Ser) c.3188T>C (p.Phe1063Ser) n.3006T>C n.3214T>C	gnomAD v4
1	g.197434916T>G	CA344045023	CRB1	c.3053T>G (p.Phe1018Cys) c.1934T>G (p.Phe645Cys) c.1196T>G (p.Phe399Cys) c.2717T>G (p.Phe906Cys) c.2981T>G (p.Phe994Cys) c.2129-684T>G (n.2129-684T>G) n.3054T>G n.3262T>G c.2471T>G (p.Phe824Cys) c.1496T>G (p.Phe499Cys) c.2210T>G (p.Phe737Cys) c.3188T>G (p.Phe1063Cys) n.3006T>G n.3214T>G	dbSNP gnomAD v4
1	g.197434916T=	CA1218068715	CRB1	c.3053T= (p.Phe1018=) c.1934T= (p.Phe645=) c.1196T= (p.Phe399=) c.2717T= (p.Phe906=) c.2981T= (p.Phe994=) c.2129-684T= (n.2129-684T=) n.3054T= n.3262T= c.2471T= (p.Phe824=) c.1496T= (p.Phe499=) c.2210T= (p.Phe737=) c.3188T= (p.Phe1063=) n.3006T= n.3214T=
1	g.197434917T>A	CA344045027	CRB1	c.3054T>A (p.Phe1018Leu) c.1935T>A (p.Phe645Leu) c.1197T>A (p.Phe399Leu) c.2718T>A (p.Phe906Leu) c.2982T>A (p.Phe994Leu) c.2129-683T>A (n.2129-683T>A) n.3055T>A n.3263T>A c.2472T>A (p.Phe824Leu) c.1497T>A (p.Phe499Leu) c.2211T>A (p.Phe737Leu) c.3189T>A (p.Phe1063Leu) n.3007T>A n.3215T>A
1	g.197434917T>C	CA35906890	CRB1	c.3054T>C (p.Phe1018=) c.1935T>C (p.Phe645=) c.1197T>C (p.Phe399=) c.2718T>C (p.Phe906=) c.2982T>C (p.Phe994=) c.2129-683T>C (n.2129-683T>C) n.3055T>C n.3263T>C c.2472T>C (p.Phe824=) c.1497T>C (p.Phe499=) c.2211T>C (p.Phe737=) c.3189T>C (p.Phe1063=) n.3007T>C n.3215T>C	ClinVar dbSNP gnomAD v4
1	g.197434917T>G	CA344045033	CRB1	c.3054T>G (p.Phe1018Leu) c.1935T>G (p.Phe645Leu) c.1197T>G (p.Phe399Leu) c.2718T>G (p.Phe906Leu) c.2982T>G (p.Phe994Leu) c.2129-683T>G (n.2129-683T>G) n.3055T>G n.3263T>G c.2472T>G (p.Phe824Leu) c.1497T>G (p.Phe499Leu) c.2211T>G (p.Phe737Leu) c.3189T>G (p.Phe1063Leu) n.3007T>G n.3215T>G
1	g.197434917T=	CA1218068716	CRB1	c.3054T= (p.Phe1018=) c.1935T= (p.Phe645=) c.1197T= (p.Phe399=) c.2718T= (p.Phe906=) c.2982T= (p.Phe994=) c.2129-683T= (n.2129-683T=) n.3055T= n.3263T= c.2472T= (p.Phe824=) c.1497T= (p.Phe499=) c.2211T= (p.Phe737=) c.3189T= (p.Phe1063=) n.3007T= n.3215T=
1	g.197434918_197434922dup	CA2586967864	CRB1	c.3055_3059dup (p.Met1020IlefsTer4) c.1936_1940dup (p.Met647IlefsTer4) c.1198_1202dup (p.Met401IlefsTer4) c.2719_2723dup (p.Met908IlefsTer4) c.2983_2987dup (p.Met996IlefsTer4) c.2129-682_2129-678dup (n.2129-682_2129-678dup) n.3056_3060dup n.3264_3268dup c.2473_2477dup (p.Met826IlefsTer4) c.1498_1502dup (p.Met501IlefsTer4) c.2212_2216dup (p.Met739IlefsTer4) c.3190_3194dup (p.Met1065IlefsTer4) n.3008_3012dup n.3216_3220dup	ClinVar
1	g.197434918T>A	CA344045037	CRB1	c.3055T>A (p.Tyr1019Asn) c.1936T>A (p.Tyr646Asn) c.1198T>A (p.Tyr400Asn) c.2719T>A (p.Tyr907Asn) c.2983T>A (p.Tyr995Asn) c.2129-682T>A (n.2129-682T>A) n.3056T>A n.3264T>A c.2473T>A (p.Tyr825Asn) c.1498T>A (p.Tyr500Asn) c.2212T>A (p.Tyr738Asn) c.3190T>A (p.Tyr1064Asn) n.3008T>A n.3216T>A
1	g.197434918T>C	CA344045036	CRB1	c.3055T>C (p.Tyr1019His) c.1936T>C (p.Tyr646His) c.1198T>C (p.Tyr400His) c.2719T>C (p.Tyr907His) c.2983T>C (p.Tyr995His) c.2129-682T>C (n.2129-682T>C) n.3056T>C n.3264T>C c.2473T>C (p.Tyr825His) c.1498T>C (p.Tyr500His) c.2212T>C (p.Tyr738His) c.3190T>C (p.Tyr1064His) n.3008T>C n.3216T>C
1	g.197434918T>G	CA344045035	CRB1	c.3055T>G (p.Tyr1019Asp) c.1936T>G (p.Tyr646Asp) c.1198T>G (p.Tyr400Asp) c.2719T>G (p.Tyr907Asp) c.2983T>G (p.Tyr995Asp) c.2129-682T>G (n.2129-682T>G) n.3056T>G n.3264T>G c.2473T>G (p.Tyr825Asp) c.1498T>G (p.Tyr500Asp) c.2212T>G (p.Tyr738Asp) c.3190T>G (p.Tyr1064Asp) n.3008T>G n.3216T>G
1	g.197434919A=	CA1218068717	CRB1	c.3056A= (p.Tyr1019=) c.1937A= (p.Tyr646=) c.1199A= (p.Tyr400=) c.2720A= (p.Tyr907=) c.2984A= (p.Tyr995=) c.2129-681A= (n.2129-681A=) n.3057A= n.3265A= c.2474A= (p.Tyr825=) c.1499A= (p.Tyr500=) c.2213A= (p.Tyr738=) c.3191A= (p.Tyr1064=) n.3009A= n.3217A=
1	g.197434919A>C	CA344045038	CRB1	c.3056A>C (p.Tyr1019Ser) c.1937A>C (p.Tyr646Ser) c.1199A>C (p.Tyr400Ser) c.2720A>C (p.Tyr907Ser) c.2984A>C (p.Tyr995Ser) c.2129-681A>C (n.2129-681A>C) n.3057A>C n.3265A>C c.2474A>C (p.Tyr825Ser) c.1499A>C (p.Tyr500Ser) c.2213A>C (p.Tyr738Ser) c.3191A>C (p.Tyr1064Ser) n.3009A>C n.3217A>C
1	g.197434919A>G	CA344045044	CRB1	c.3056A>G (p.Tyr1019Cys) c.1937A>G (p.Tyr646Cys) c.1199A>G (p.Tyr400Cys) c.2720A>G (p.Tyr907Cys) c.2984A>G (p.Tyr995Cys) c.2129-681A>G (n.2129-681A>G) n.3057A>G n.3265A>G c.2474A>G (p.Tyr825Cys) c.1499A>G (p.Tyr500Cys) c.2213A>G (p.Tyr738Cys) c.3191A>G (p.Tyr1064Cys) n.3009A>G n.3217A>G
1	g.197434919A>T	CA344045040	CRB1	c.3056A>T (p.Tyr1019Phe) c.1937A>T (p.Tyr646Phe) c.1199A>T (p.Tyr400Phe) c.2720A>T (p.Tyr907Phe) c.2984A>T (p.Tyr995Phe) c.2129-681A>T (n.2129-681A>T) n.3057A>T n.3265A>T c.2474A>T (p.Tyr825Phe) c.1499A>T (p.Tyr500Phe) c.2213A>T (p.Tyr738Phe) c.3191A>T (p.Tyr1064Phe) n.3009A>T n.3217A>T	dbSNP
1	g.197434920T>A	CA344045048	CRB1	c.3057T>A (p.Tyr1019Ter) c.1938T>A (p.Tyr646Ter) c.1200T>A (p.Tyr400Ter) c.2721T>A (p.Tyr907Ter) c.2985T>A (p.Tyr995Ter) c.2129-680T>A (n.2129-680T>A) n.3058T>A n.3266T>A c.2475T>A (p.Tyr825Ter) c.1500T>A (p.Tyr500Ter) c.2214T>A (p.Tyr738Ter) c.3192T>A (p.Tyr1064Ter) n.3010T>A n.3218T>A	gnomAD v4
1	g.197434920T>C	CA422808736	CRB1	c.3057T>C (p.Tyr1019=) c.1938T>C (p.Tyr646=) c.1200T>C (p.Tyr400=) c.2721T>C (p.Tyr907=) c.2985T>C (p.Tyr995=) c.2129-680T>C (n.2129-680T>C) n.3058T>C n.3266T>C c.2475T>C (p.Tyr825=) c.1500T>C (p.Tyr500=) c.2214T>C (p.Tyr738=) c.3192T>C (p.Tyr1064=) n.3010T>C n.3218T>C	gnomAD v4
1	g.197434920T>G	CA344045051	CRB1	c.3057T>G (p.Tyr1019Ter) c.1938T>G (p.Tyr646Ter) c.1200T>G (p.Tyr400Ter) c.2721T>G (p.Tyr907Ter) c.2985T>G (p.Tyr995Ter) c.2129-680T>G (n.2129-680T>G) n.3058T>G n.3266T>G c.2475T>G (p.Tyr825Ter) c.1500T>G (p.Tyr500Ter) c.2214T>G (p.Tyr738Ter) c.3192T>G (p.Tyr1064Ter) n.3010T>G n.3218T>G
1	g.197434921A=	CA1144215017	CRB1	c.3058A= (p.Met1020=) c.1939A= (p.Met647=) c.1201A= (p.Met401=) c.2722A= (p.Met908=) c.2986A= (p.Met996=) c.2129-679A= (n.2129-679A=) n.3059A= n.3267A= c.2476A= (p.Met826=) c.1501A= (p.Met501=) c.2215A= (p.Met739=) c.3193A= (p.Met1065=) n.3011A= n.3219A=
1	g.197434921A>C	CA344045061	CRB1	c.3058A>C (p.Met1020Leu) c.1939A>C (p.Met647Leu) c.1201A>C (p.Met401Leu) c.2722A>C (p.Met908Leu) c.2986A>C (p.Met996Leu) c.2129-679A>C (n.2129-679A>C) n.3059A>C n.3267A>C c.2476A>C (p.Met826Leu) c.1501A>C (p.Met501Leu) c.2215A>C (p.Met739Leu) c.3193A>C (p.Met1065Leu) n.3011A>C n.3219A>C
1	g.197434921A>G	CA1312267	CRB1	c.3058A>G (p.Met1020Val) c.1939A>G (p.Met647Val) c.1201A>G (p.Met401Val) c.2722A>G (p.Met908Val) c.2986A>G (p.Met996Val) c.2129-679A>G (n.2129-679A>G) n.3059A>G n.3267A>G c.2476A>G (p.Met826Val) c.1501A>G (p.Met501Val) c.2215A>G (p.Met739Val) c.3193A>G (p.Met1065Val) n.3011A>G n.3219A>G	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.197434921A>T	CA344045065	CRB1	c.3058A>T (p.Met1020Leu) c.1939A>T (p.Met647Leu) c.1201A>T (p.Met401Leu) c.2722A>T (p.Met908Leu) c.2986A>T (p.Met996Leu) c.2129-679A>T (n.2129-679A>T) n.3059A>T n.3267A>T c.2476A>T (p.Met826Leu) c.1501A>T (p.Met501Leu) c.2215A>T (p.Met739Leu) c.3193A>T (p.Met1065Leu) n.3011A>T n.3219A>T
1	g.197434922del	CA2586967865	CRB1	c.3059del (p.Met1020SerfsTer2) c.1940del (p.Met647SerfsTer2) c.1202del (p.Met401SerfsTer2) c.2723del (p.Met908SerfsTer2) c.2987del (p.Met996SerfsTer2) c.2129-678del (n.2129-678del) n.3060del n.3268del c.2477del (p.Met826SerfsTer2) c.1502del (p.Met501SerfsTer2) c.2216del (p.Met739SerfsTer2) c.3194del (p.Met1065SerfsTer2) n.3012del n.3220del
1	g.197434922T>A	CA344045072	CRB1	c.3059T>A (p.Met1020Lys) c.1940T>A (p.Met647Lys) c.1202T>A (p.Met401Lys) c.2723T>A (p.Met908Lys) c.2987T>A (p.Met996Lys) c.2129-678T>A (n.2129-678T>A) n.3060T>A n.3268T>A c.2477T>A (p.Met826Lys) c.1502T>A (p.Met501Lys) c.2216T>A (p.Met739Lys) c.3194T>A (p.Met1065Lys) n.3012T>A n.3220T>A	gnomAD v4
1	g.197434922T>C	CA1312268	CRB1	c.3059T>C (p.Met1020Thr) c.1940T>C (p.Met647Thr) c.1202T>C (p.Met401Thr) c.2723T>C (p.Met908Thr) c.2987T>C (p.Met996Thr) c.2129-678T>C (n.2129-678T>C) n.3060T>C n.3268T>C c.2477T>C (p.Met826Thr) c.1502T>C (p.Met501Thr) c.2216T>C (p.Met739Thr) c.3194T>C (p.Met1065Thr) n.3012T>C n.3220T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.197434922T>G	CA344045081	CRB1	c.3059T>G (p.Met1020Arg) c.1940T>G (p.Met647Arg) c.1202T>G (p.Met401Arg) c.2723T>G (p.Met908Arg) c.2987T>G (p.Met996Arg) c.2129-678T>G (n.2129-678T>G) n.3060T>G n.3268T>G c.2477T>G (p.Met826Arg) c.1502T>G (p.Met501Arg) c.2216T>G (p.Met739Arg) c.3194T>G (p.Met1065Arg) n.3012T>G n.3220T>G
1	g.197434922T=	CA1218068718	CRB1	c.3059T= (p.Met1020=) c.1940T= (p.Met647=) c.1202T= (p.Met401=) c.2723T= (p.Met908=) c.2987T= (p.Met996=) c.2129-678T= (n.2129-678T=) n.3060T= n.3268T= c.2477T= (p.Met826=) c.1502T= (p.Met501=) c.2216T= (p.Met739=) c.3194T= (p.Met1065=) n.3012T= n.3220T=
1	g.197434923G>A	CA344045100	CRB1	c.3060G>A (p.Met1020Ile) c.1941G>A (p.Met647Ile) c.1203G>A (p.Met401Ile) c.2724G>A (p.Met908Ile) c.2988G>A (p.Met996Ile) c.2129-677G>A (n.2129-677G>A) n.3061G>A n.3269G>A c.2478G>A (p.Met826Ile) c.1503G>A (p.Met501Ile) c.2217G>A (p.Met739Ile) c.3195G>A (p.Met1065Ile) n.3013G>A n.3221G>A
1	g.197434923G>C	CA344045105	CRB1	c.3060G>C (p.Met1020Ile) c.1941G>C (p.Met647Ile) c.1203G>C (p.Met401Ile) c.2724G>C (p.Met908Ile) c.2988G>C (p.Met996Ile) c.2129-677G>C (n.2129-677G>C) n.3061G>C n.3269G>C c.2478G>C (p.Met826Ile) c.1503G>C (p.Met501Ile) c.2217G>C (p.Met739Ile) c.3195G>C (p.Met1065Ile) n.3013G>C n.3221G>C
1	g.197434923G>T	CA344045107	CRB1	c.3060G>T (p.Met1020Ile) c.1941G>T (p.Met647Ile) c.1203G>T (p.Met401Ile) c.2724G>T (p.Met908Ile) c.2988G>T (p.Met996Ile) c.2129-677G>T (n.2129-677G>T) n.3061G>T n.3269G>T c.2478G>T (p.Met826Ile) c.1503G>T (p.Met501Ile) c.2217G>T (p.Met739Ile) c.3195G>T (p.Met1065Ile) n.3013G>T n.3221G>T
1	g.197434924C>A	CA344045109	CRB1	c.3061C>A (p.Leu1021Ile) c.1942C>A (p.Leu648Ile) c.1204C>A (p.Leu402Ile) c.2725C>A (p.Leu909Ile) c.2989C>A (p.Leu997Ile) c.2129-676C>A (n.2129-676C>A) n.3062C>A n.3270C>A c.2479C>A (p.Leu827Ile) c.1504C>A (p.Leu502Ile) c.2218C>A (p.Leu740Ile) c.3196C>A (p.Leu1066Ile) n.3014C>A n.3222C>A
1	g.197434924C>G	CA344045111	CRB1	c.3061C>G (p.Leu1021Val) c.1942C>G (p.Leu648Val) c.1204C>G (p.Leu402Val) c.2725C>G (p.Leu909Val) c.2989C>G (p.Leu997Val) c.2129-676C>G (n.2129-676C>G) n.3062C>G n.3270C>G c.2479C>G (p.Leu827Val) c.1504C>G (p.Leu502Val) c.2218C>G (p.Leu740Val) c.3196C>G (p.Leu1066Val) n.3014C>G n.3222C>G
1	g.197434924C>T	CA422808743	CRB1	c.3061C>T (p.Leu1021=) c.1942C>T (p.Leu648=) c.1204C>T (p.Leu402=) c.2725C>T (p.Leu909=) c.2989C>T (p.Leu997=) c.2129-676C>T (n.2129-676C>T) n.3062C>T n.3270C>T c.2479C>T (p.Leu827=) c.1504C>T (p.Leu502=) c.2218C>T (p.Leu740=) c.3196C>T (p.Leu1066=) n.3014C>T n.3222C>T	dbSNP
1	g.197434925T>A	CA344045122	CRB1	c.3062T>A (p.Leu1021Gln) c.1943T>A (p.Leu648Gln) c.1205T>A (p.Leu402Gln) c.2726T>A (p.Leu909Gln) c.2990T>A (p.Leu997Gln) c.2129-675T>A (n.2129-675T>A) n.3063T>A n.3271T>A c.2480T>A (p.Leu827Gln) c.1505T>A (p.Leu502Gln) c.2219T>A (p.Leu740Gln) c.3197T>A (p.Leu1066Gln) n.3015T>A n.3223T>A
1	g.197434925T>C	CA344045114	CRB1	c.3062T>C (p.Leu1021Pro) c.1943T>C (p.Leu648Pro) c.1205T>C (p.Leu402Pro) c.2726T>C (p.Leu909Pro) c.2990T>C (p.Leu997Pro) c.2129-675T>C (n.2129-675T>C) n.3063T>C n.3271T>C c.2480T>C (p.Leu827Pro) c.1505T>C (p.Leu502Pro) c.2219T>C (p.Leu740Pro) c.3197T>C (p.Leu1066Pro) n.3015T>C n.3223T>C	ClinVar dbSNP
1	g.197434925T>G	CA344045118	CRB1	c.3062T>G (p.Leu1021Arg) c.1943T>G (p.Leu648Arg) c.1205T>G (p.Leu402Arg) c.2726T>G (p.Leu909Arg) c.2990T>G (p.Leu997Arg) c.2129-675T>G (n.2129-675T>G) n.3063T>G n.3271T>G c.2480T>G (p.Leu827Arg) c.1505T>G (p.Leu502Arg) c.2219T>G (p.Leu740Arg) c.3197T>G (p.Leu1066Arg) n.3015T>G n.3223T>G
1	g.197434925T=	CA1218068719	CRB1	c.3062T= (p.Leu1021=) c.1943T= (p.Leu648=) c.1205T= (p.Leu402=) c.2726T= (p.Leu909=) c.2990T= (p.Leu997=) c.2129-675T= (n.2129-675T=) n.3063T= n.3271T= c.2480T= (p.Leu827=) c.1505T= (p.Leu502=) c.2219T= (p.Leu740=) c.3197T= (p.Leu1066=) n.3015T= n.3223T=
1	g.197434925_197434927delinsTAA	CA1218068720	CRB1	c.3062_3064delinsTAA (p.Leu1021=) c.1943_1945delinsTAA (p.Leu648=) c.1205_1207delinsTAA (p.Leu402=) c.2726_2728delinsTAA (p.Leu909=) c.2990_2992delinsTAA (p.Leu997=) c.2129-675_2129-673delinsTAA (n.2129-675_2129-673delinsTAA) n.3063_3065delinsTAA n.3271_3273delinsTAA c.2480_2482delinsTAA (p.Leu827=) c.1505_1507delinsTAA (p.Leu502=) c.2219_2221delinsTAA (p.Leu740=) c.3197_3199delinsTAA (p.Leu1066=) n.3015_3017delinsTAA n.3223_3225delinsTAA
1	g.197434926A>C	CA422808744	CRB1	c.3063A>C (p.Leu1021=) c.1944A>C (p.Leu648=) c.1206A>C (p.Leu402=) c.2727A>C (p.Leu909=) c.2991A>C (p.Leu997=) c.2129-674A>C (n.2129-674A>C) n.3064A>C n.3272A>C c.2481A>C (p.Leu827=) c.1506A>C (p.Leu502=) c.2220A>C (p.Leu740=) c.3198A>C (p.Leu1066=) n.3016A>C n.3224A>C
1	g.197434926A>G	CA422808745	CRB1	c.3063A>G (p.Leu1021=) c.1944A>G (p.Leu648=) c.1206A>G (p.Leu402=) c.2727A>G (p.Leu909=) c.2991A>G (p.Leu997=) c.2129-674A>G (n.2129-674A>G) n.3064A>G n.3272A>G c.2481A>G (p.Leu827=) c.1506A>G (p.Leu502=) c.2220A>G (p.Leu740=) c.3198A>G (p.Leu1066=) n.3016A>G n.3224A>G	gnomAD v4
1	g.197434926A>T	CA422808746	CRB1	c.3063A>T (p.Leu1021=) c.1944A>T (p.Leu648=) c.1206A>T (p.Leu402=) c.2727A>T (p.Leu909=) c.2991A>T (p.Leu997=) c.2129-674A>T (n.2129-674A>T) n.3064A>T n.3272A>T c.2481A>T (p.Leu827=) c.1506A>T (p.Leu502=) c.2220A>T (p.Leu740=) c.3198A>T (p.Leu1066=) n.3016A>T n.3224A>T
1	g.197434926_197434927del	CA1218068721	CRB1	c.3063_3064del (p.Leu1023AspfsTer8) c.1944_1945del (p.Leu650AspfsTer8) c.1206_1207del (p.Leu404AspfsTer8) c.2727_2728del (p.Leu911AspfsTer8) c.2991_2992del (p.Leu999AspfsTer8) c.2129-674_2129-673del (n.2129-674_2129-673del) n.3064_3065del n.3272_3273del c.2481_2482del (p.Leu829AspfsTer8) c.1506_1507del (p.Leu504AspfsTer8) c.2220_2221del (p.Leu742AspfsTer8) c.3198_3199del (p.Leu1068AspfsTer8) n.3016_3017del n.3224_3225del	dbSNP
1	g.197434927A=	CA1218068722	CRB1	c.3064A= (p.Ser1022=) c.1945A= (p.Ser649=) c.1207A= (p.Ser403=) c.2728A= (p.Ser910=) c.2992A= (p.Ser998=) c.2129-673A= (n.2129-673A=) n.3065A= n.3273A= c.2482A= (p.Ser828=) c.1507A= (p.Ser503=) c.2221A= (p.Ser741=) c.3199A= (p.Ser1067=) n.3017A= n.3225A=
1	g.197434927A>C	CA344045130	CRB1	c.3064A>C (p.Ser1022Arg) c.1945A>C (p.Ser649Arg) c.1207A>C (p.Ser403Arg) c.2728A>C (p.Ser910Arg) c.2992A>C (p.Ser998Arg) c.2129-673A>C (n.2129-673A>C) n.3065A>C n.3273A>C c.2482A>C (p.Ser828Arg) c.1507A>C (p.Ser503Arg) c.2221A>C (p.Ser741Arg) c.3199A>C (p.Ser1067Arg) n.3017A>C n.3225A>C	COSMIC COSMIC
1	g.197434927A>G	CA344045133	CRB1	c.3064A>G (p.Ser1022Gly) c.1945A>G (p.Ser649Gly) c.1207A>G (p.Ser403Gly) c.2728A>G (p.Ser910Gly) c.2992A>G (p.Ser998Gly) c.2129-673A>G (n.2129-673A>G) n.3065A>G n.3273A>G c.2482A>G (p.Ser828Gly) c.1507A>G (p.Ser503Gly) c.2221A>G (p.Ser741Gly) c.3199A>G (p.Ser1067Gly) n.3017A>G n.3225A>G
1	g.197434927A>T	CA35906928	CRB1	c.3064A>T (p.Ser1022Cys) c.1945A>T (p.Ser649Cys) c.1207A>T (p.Ser403Cys) c.2728A>T (p.Ser910Cys) c.2992A>T (p.Ser998Cys) c.2129-673A>T (n.2129-673A>T) n.3065A>T n.3273A>T c.2482A>T (p.Ser828Cys) c.1507A>T (p.Ser503Cys) c.2221A>T (p.Ser741Cys) c.3199A>T (p.Ser1067Cys) n.3017A>T n.3225A>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.197434928G>A	CA344045141	CRB1	c.3065G>A (p.Ser1022Asn) c.1946G>A (p.Ser649Asn) c.1208G>A (p.Ser403Asn) c.2729G>A (p.Ser910Asn) c.2993G>A (p.Ser998Asn) c.2129-672G>A (n.2129-672G>A) n.3066G>A n.3274G>A c.2483G>A (p.Ser828Asn) c.1508G>A (p.Ser503Asn) c.2222G>A (p.Ser741Asn) c.3200G>A (p.Ser1067Asn) n.3018G>A n.3226G>A
1	g.197434928G>C	CA344045174	CRB1	c.3065G>C (p.Ser1022Thr) c.1946G>C (p.Ser649Thr) c.1208G>C (p.Ser403Thr) c.2729G>C (p.Ser910Thr) c.2993G>C (p.Ser998Thr) c.2129-672G>C (n.2129-672G>C) n.3066G>C n.3274G>C c.2483G>C (p.Ser828Thr) c.1508G>C (p.Ser503Thr) c.2222G>C (p.Ser741Thr) c.3200G>C (p.Ser1067Thr) n.3018G>C n.3226G>C
1	g.197434928G>T	CA344045179	CRB1	c.3065G>T (p.Ser1022Ile) c.1946G>T (p.Ser649Ile) c.1208G>T (p.Ser403Ile) c.2729G>T (p.Ser910Ile) c.2993G>T (p.Ser998Ile) c.2129-672G>T (n.2129-672G>T) n.3066G>T n.3274G>T c.2483G>T (p.Ser828Ile) c.1508G>T (p.Ser503Ile) c.2222G>T (p.Ser741Ile) c.3200G>T (p.Ser1067Ile) n.3018G>T n.3226G>T
1	g.197434929T>A	CA344045182	CRB1	c.3066T>A (p.Ser1022Arg) c.1947T>A (p.Ser649Arg) c.1209T>A (p.Ser403Arg) c.2730T>A (p.Ser910Arg) c.2994T>A (p.Ser998Arg) c.2129-671T>A (n.2129-671T>A) n.3067T>A n.3275T>A c.2484T>A (p.Ser828Arg) c.1509T>A (p.Ser503Arg) c.2223T>A (p.Ser741Arg) c.3201T>A (p.Ser1067Arg) n.3019T>A n.3227T>A
1	g.197434929T>C	CA422808749	CRB1	c.3066T>C (p.Ser1022=) c.1947T>C (p.Ser649=) c.1209T>C (p.Ser403=) c.2730T>C (p.Ser910=) c.2994T>C (p.Ser998=) c.2129-671T>C (n.2129-671T>C) n.3067T>C n.3275T>C c.2484T>C (p.Ser828=) c.1509T>C (p.Ser503=) c.2223T>C (p.Ser741=) c.3201T>C (p.Ser1067=) n.3019T>C n.3227T>C	gnomAD v4
1	g.197434929T>G	CA344045185	CRB1	c.3066T>G (p.Ser1022Arg) c.1947T>G (p.Ser649Arg) c.1209T>G (p.Ser403Arg) c.2730T>G (p.Ser910Arg) c.2994T>G (p.Ser998Arg) c.2129-671T>G (n.2129-671T>G) n.3067T>G n.3275T>G c.2484T>G (p.Ser828Arg) c.1509T>G (p.Ser503Arg) c.2223T>G (p.Ser741Arg) c.3201T>G (p.Ser1067Arg) n.3019T>G n.3227T>G	gnomAD v4
1	g.197434930C>A	CA344045186	CRB1	c.3067C>A (p.Leu1023Met) c.1948C>A (p.Leu650Met) c.1210C>A (p.Leu404Met) c.2731C>A (p.Leu911Met) c.2995C>A (p.Leu999Met) c.2129-670C>A (n.2129-670C>A) n.3068C>A n.3276C>A c.2485C>A (p.Leu829Met) c.1510C>A (p.Leu504Met) c.2224C>A (p.Leu742Met) c.3202C>A (p.Leu1068Met) n.3020C>A n.3228C>A
1	g.197434930C=	CA1218068723	CRB1	c.3067C= (p.Leu1023=) c.1948C= (p.Leu650=) c.1210C= (p.Leu404=) c.2731C= (p.Leu911=) c.2995C= (p.Leu999=) c.2129-670C= (n.2129-670C=) n.3068C= n.3276C= c.2485C= (p.Leu829=) c.1510C= (p.Leu504=) c.2224C= (p.Leu742=) c.3202C= (p.Leu1068=) n.3020C= n.3228C=
1	g.197434930C>G	CA344045187	CRB1	c.3067C>G (p.Leu1023Val) c.1948C>G (p.Leu650Val) c.1210C>G (p.Leu404Val) c.2731C>G (p.Leu911Val) c.2995C>G (p.Leu999Val) c.2129-670C>G (n.2129-670C>G) n.3068C>G n.3276C>G c.2485C>G (p.Leu829Val) c.1510C>G (p.Leu504Val) c.2224C>G (p.Leu742Val) c.3202C>G (p.Leu1068Val) n.3020C>G n.3228C>G	dbSNP
1	g.197434930C>T	CA422808750	CRB1	c.3067C>T (p.Leu1023=) c.1948C>T (p.Leu650=) c.1210C>T (p.Leu404=) c.2731C>T (p.Leu911=) c.2995C>T (p.Leu999=) c.2129-670C>T (n.2129-670C>T) n.3068C>T n.3276C>T c.2485C>T (p.Leu829=) c.1510C>T (p.Leu504=) c.2224C>T (p.Leu742=) c.3202C>T (p.Leu1068=) n.3020C>T n.3228C>T	COSMIC COSMIC
1	g.197434931T>A	CA344045190	CRB1	c.3068T>A (p.Leu1023Gln) c.1949T>A (p.Leu650Gln) c.1211T>A (p.Leu404Gln) c.2732T>A (p.Leu911Gln) c.2996T>A (p.Leu999Gln) c.2129-669T>A (n.2129-669T>A) n.3069T>A n.3277T>A c.2486T>A (p.Leu829Gln) c.1511T>A (p.Leu504Gln) c.2225T>A (p.Leu742Gln) c.3203T>A (p.Leu1068Gln) n.3021T>A n.3229T>A
1	g.197434931T>C	CA344045194	CRB1	c.3068T>C (p.Leu1023Pro) c.1949T>C (p.Leu650Pro) c.1211T>C (p.Leu404Pro) c.2732T>C (p.Leu911Pro) c.2996T>C (p.Leu999Pro) c.2129-669T>C (n.2129-669T>C) n.3069T>C n.3277T>C c.2486T>C (p.Leu829Pro) c.1511T>C (p.Leu504Pro) c.2225T>C (p.Leu742Pro) c.3203T>C (p.Leu1068Pro) n.3021T>C n.3229T>C
1	g.197434931T>G	CA344045188	CRB1	c.3068T>G (p.Leu1023Arg) c.1949T>G (p.Leu650Arg) c.1211T>G (p.Leu404Arg) c.2732T>G (p.Leu911Arg) c.2996T>G (p.Leu999Arg) c.2129-669T>G (n.2129-669T>G) n.3069T>G n.3277T>G c.2486T>G (p.Leu829Arg) c.1511T>G (p.Leu504Arg) c.2225T>G (p.Leu742Arg) c.3203T>G (p.Leu1068Arg) n.3021T>G n.3229T>G	ClinVar dbSNP gnomAD v4
1	g.197434931T=	CA1218068724	CRB1	c.3068T= (p.Leu1023=) c.1949T= (p.Leu650=) c.1211T= (p.Leu404=) c.2732T= (p.Leu911=) c.2996T= (p.Leu999=) c.2129-669T= (n.2129-669T=) n.3069T= n.3277T= c.2486T= (p.Leu829=) c.1511T= (p.Leu504=) c.2225T= (p.Leu742=) c.3203T= (p.Leu1068=) n.3021T= n.3229T=
1	g.197434932del	CA2649670639	CRB1	c.3069del (p.Thr1024GlnfsTer6) c.1950del (p.Thr651GlnfsTer6) c.1212del (p.Thr405GlnfsTer6) c.2733del (p.Thr912GlnfsTer6) c.2997del (p.Thr1000GlnfsTer6) c.2129-668del (n.2129-668del) n.3070del n.3278del c.2487del (p.Thr830GlnfsTer6) c.1512del (p.Thr505GlnfsTer6) c.2226del (p.Thr743GlnfsTer6) c.3204del (p.Thr1069GlnfsTer6) n.3022del n.3230del	gnomAD v4
1	g.197434932G>A	CA35906929	CRB1	c.3069G>A (p.Leu1023=) c.1950G>A (p.Leu650=) c.1212G>A (p.Leu404=) c.2733G>A (p.Leu911=) c.2997G>A (p.Leu999=) c.2129-668G>A (n.2129-668G>A) n.3070G>A n.3278G>A c.2487G>A (p.Leu829=) c.1512G>A (p.Leu504=) c.2226G>A (p.Leu742=) c.3204G>A (p.Leu1068=) n.3022G>A n.3230G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
1	g.197434932G>C	CA422808753	CRB1	c.3069G>C (p.Leu1023=) c.1950G>C (p.Leu650=) c.1212G>C (p.Leu404=) c.2733G>C (p.Leu911=) c.2997G>C (p.Leu999=) c.2129-668G>C (n.2129-668G>C) n.3070G>C n.3278G>C c.2487G>C (p.Leu829=) c.1512G>C (p.Leu504=) c.2226G>C (p.Leu742=) c.3204G>C (p.Leu1068=) n.3022G>C n.3230G>C
1	g.197434932G=	CA1143515758	CRB1	c.3069G= (p.Leu1023=) c.1950G= (p.Leu650=) c.1212G= (p.Leu404=) c.2733G= (p.Leu911=) c.2997G= (p.Leu999=) c.2129-668G= (n.2129-668G=) n.3070G= n.3278G= c.2487G= (p.Leu829=) c.1512G= (p.Leu504=) c.2226G= (p.Leu742=) c.3204G= (p.Leu1068=) n.3022G= n.3230G=
1	g.197434932G>T	CA422808755	CRB1	c.3069G>T (p.Leu1023=) c.1950G>T (p.Leu650=) c.1212G>T (p.Leu404=) c.2733G>T (p.Leu911=) c.2997G>T (p.Leu999=) c.2129-668G>T (n.2129-668G>T) n.3070G>T n.3278G>T c.2487G>T (p.Leu829=) c.1512G>T (p.Leu504=) c.2226G>T (p.Leu742=) c.3204G>T (p.Leu1068=) n.3022G>T n.3230G>T
1	g.197434933del	CA2573051458	CRB1	c.3070del (p.Thr1024GlnfsTer6) c.1951del (p.Thr651GlnfsTer6) c.1213del (p.Thr405GlnfsTer6) c.2734del (p.Thr912GlnfsTer6) c.2998del (p.Thr1000GlnfsTer6) c.2129-667del (n.2129-667del) n.3071del n.3279del c.2488del (p.Thr830GlnfsTer6) c.1513del (p.Thr505GlnfsTer6) c.2227del (p.Thr743GlnfsTer6) c.3205del (p.Thr1069GlnfsTer6) n.3023del n.3231del	ClinVar dbSNP
1	g.197434933A>C	CA344045198	CRB1	c.3070A>C (p.Thr1024Pro) c.1951A>C (p.Thr651Pro) c.1213A>C (p.Thr405Pro) c.2734A>C (p.Thr912Pro) c.2998A>C (p.Thr1000Pro) c.2129-667A>C (n.2129-667A>C) n.3071A>C n.3279A>C c.2488A>C (p.Thr830Pro) c.1513A>C (p.Thr505Pro) c.2227A>C (p.Thr743Pro) c.3205A>C (p.Thr1069Pro) n.3023A>C n.3231A>C
1	g.197434933A>G	CA344045199	CRB1	c.3070A>G (p.Thr1024Ala) c.1951A>G (p.Thr651Ala) c.1213A>G (p.Thr405Ala) c.2734A>G (p.Thr912Ala) c.2998A>G (p.Thr1000Ala) c.2129-667A>G (n.2129-667A>G) n.3071A>G n.3279A>G c.2488A>G (p.Thr830Ala) c.1513A>G (p.Thr505Ala) c.2227A>G (p.Thr743Ala) c.3205A>G (p.Thr1069Ala) n.3023A>G n.3231A>G
1	g.197434933A>T	CA344045202	CRB1	c.3070A>T (p.Thr1024Ser) c.1951A>T (p.Thr651Ser) c.1213A>T (p.Thr405Ser) c.2734A>T (p.Thr912Ser) c.2998A>T (p.Thr1000Ser) c.2129-667A>T (n.2129-667A>T) n.3071A>T n.3279A>T c.2488A>T (p.Thr830Ser) c.1513A>T (p.Thr505Ser) c.2227A>T (p.Thr743Ser) c.3205A>T (p.Thr1069Ser) n.3023A>T n.3231A>T
1	g.197434934C>A	CA344045206	CRB1	c.3071C>A (p.Thr1024Lys) c.1952C>A (p.Thr651Lys) c.1214C>A (p.Thr405Lys) c.2735C>A (p.Thr912Lys) c.2999C>A (p.Thr1000Lys) c.2129-666C>A (n.2129-666C>A) n.3072C>A n.3280C>A c.2489C>A (p.Thr830Lys) c.1514C>A (p.Thr505Lys) c.2228C>A (p.Thr743Lys) c.3206C>A (p.Thr1069Lys) n.3024C>A n.3232C>A
1	g.197434934C>G	CA344045208	CRB1	c.3071C>G (p.Thr1024Arg) c.1952C>G (p.Thr651Arg) c.1214C>G (p.Thr405Arg) c.2735C>G (p.Thr912Arg) c.2999C>G (p.Thr1000Arg) c.2129-666C>G (n.2129-666C>G) n.3072C>G n.3280C>G c.2489C>G (p.Thr830Arg) c.1514C>G (p.Thr505Arg) c.2228C>G (p.Thr743Arg) c.3206C>G (p.Thr1069Arg) n.3024C>G n.3232C>G
1	g.197434934C>T	CA344045212	CRB1	c.3071C>T (p.Thr1024Ile) c.1952C>T (p.Thr651Ile) c.1214C>T (p.Thr405Ile) c.2735C>T (p.Thr912Ile) c.2999C>T (p.Thr1000Ile) c.2129-666C>T (n.2129-666C>T) n.3072C>T n.3280C>T c.2489C>T (p.Thr830Ile) c.1514C>T (p.Thr505Ile) c.2228C>T (p.Thr743Ile) c.3206C>T (p.Thr1069Ile) n.3024C>T n.3232C>T
1	g.197434935A>C	CA422808757	CRB1	c.3072A>C (p.Thr1024=) c.1953A>C (p.Thr651=) c.1215A>C (p.Thr405=) c.2736A>C (p.Thr912=) c.3000A>C (p.Thr1000=) c.2129-665A>C (n.2129-665A>C) n.3073A>C n.3281A>C c.2490A>C (p.Thr830=) c.1515A>C (p.Thr505=) c.2229A>C (p.Thr743=) c.3207A>C (p.Thr1069=) n.3025A>C n.3233A>C
1	g.197434935A>G	CA422808761	CRB1	c.3072A>G (p.Thr1024=) c.1953A>G (p.Thr651=) c.1215A>G (p.Thr405=) c.2736A>G (p.Thr912=) c.3000A>G (p.Thr1000=) c.2129-665A>G (n.2129-665A>G) n.3073A>G n.3281A>G c.2490A>G (p.Thr830=) c.1515A>G (p.Thr505=) c.2229A>G (p.Thr743=) c.3207A>G (p.Thr1069=) n.3025A>G n.3233A>G
1	g.197434935A>T	CA422808759	CRB1	c.3072A>T (p.Thr1024=) c.1953A>T (p.Thr651=) c.1215A>T (p.Thr405=) c.2736A>T (p.Thr912=) c.3000A>T (p.Thr1000=) c.2129-665A>T (n.2129-665A>T) n.3073A>T n.3281A>T c.2490A>T (p.Thr830=) c.1515A>T (p.Thr505=) c.2229A>T (p.Thr743=) c.3207A>T (p.Thr1069=) n.3025A>T n.3233A>T
1	g.197434936A=	CA1218068725	CRB1	c.3073A= (p.Ser1025=) c.1954A= (p.Ser652=) c.1216A= (p.Ser406=) c.2737A= (p.Ser913=) c.3001A= (p.Ser1001=) c.2129-664A= (n.2129-664A=) n.3074A= n.3282A= c.2491A= (p.Ser831=) c.1516A= (p.Ser506=) c.2230A= (p.Ser744=) c.3208A= (p.Ser1070=) n.3026A= n.3234A=
1	g.197434936A>C	CA344045217	CRB1	c.3073A>C (p.Ser1025Arg) c.1954A>C (p.Ser652Arg) c.1216A>C (p.Ser406Arg) c.2737A>C (p.Ser913Arg) c.3001A>C (p.Ser1001Arg) c.2129-664A>C (n.2129-664A>C) n.3074A>C n.3282A>C c.2491A>C (p.Ser831Arg) c.1516A>C (p.Ser506Arg) c.2230A>C (p.Ser744Arg) c.3208A>C (p.Ser1070Arg) n.3026A>C n.3234A>C
1	g.197434936A>G	CA1312269	CRB1	c.3073A>G (p.Ser1025Gly) c.1954A>G (p.Ser652Gly) c.1216A>G (p.Ser406Gly) c.2737A>G (p.Ser913Gly) c.3001A>G (p.Ser1001Gly) c.2129-664A>G (n.2129-664A>G) n.3074A>G n.3282A>G c.2491A>G (p.Ser831Gly) c.1516A>G (p.Ser506Gly) c.2230A>G (p.Ser744Gly) c.3208A>G (p.Ser1070Gly) n.3026A>G n.3234A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.197434936A>T	CA344045219	CRB1	c.3073A>T (p.Ser1025Cys) c.1954A>T (p.Ser652Cys) c.1216A>T (p.Ser406Cys) c.2737A>T (p.Ser913Cys) c.3001A>T (p.Ser1001Cys) c.2129-664A>T (n.2129-664A>T) n.3074A>T n.3282A>T c.2491A>T (p.Ser831Cys) c.1516A>T (p.Ser506Cys) c.2230A>T (p.Ser744Cys) c.3208A>T (p.Ser1070Cys) n.3026A>T n.3234A>T
1	g.197434937G>A	CA344045220	CRB1	c.3074G>A (p.Ser1025Asn) c.1955G>A (p.Ser652Asn) c.1217G>A (p.Ser406Asn) c.2738G>A (p.Ser913Asn) c.3002G>A (p.Ser1001Asn) c.2129-663G>A (n.2129-663G>A) n.3075G>A n.3283G>A c.2492G>A (p.Ser831Asn) c.1517G>A (p.Ser506Asn) c.2231G>A (p.Ser744Asn) c.3209G>A (p.Ser1070Asn) n.3027G>A n.3235G>A	ClinVar dbSNP gnomAD v4
1	g.197434937G>C	CA344045223	CRB1	c.3074G>C (p.Ser1025Thr) c.1955G>C (p.Ser652Thr) c.1217G>C (p.Ser406Thr) c.2738G>C (p.Ser913Thr) c.3002G>C (p.Ser1001Thr) c.2129-663G>C (n.2129-663G>C) n.3075G>C n.3283G>C c.2492G>C (p.Ser831Thr) c.1517G>C (p.Ser506Thr) c.2231G>C (p.Ser744Thr) c.3209G>C (p.Ser1070Thr) n.3027G>C n.3235G>C
1	g.197434937G=	CA1140762959	CRB1	c.3074G= (p.Ser1025=) c.1955G= (p.Ser652=) c.1217G= (p.Ser406=) c.2738G= (p.Ser913=) c.3002G= (p.Ser1001=) c.2129-663G= (n.2129-663G=) n.3075G= n.3283G= c.2492G= (p.Ser831=) c.1517G= (p.Ser506=) c.2231G= (p.Ser744=) c.3209G= (p.Ser1070=) n.3027G= n.3235G=
1	g.197434937G>T	CA228030	CRB1	c.3074G>T (p.Ser1025Ile) c.1955G>T (p.Ser652Ile) c.1217G>T (p.Ser406Ile) c.2738G>T (p.Ser913Ile) c.3002G>T (p.Ser1001Ile) c.2129-663G>T (n.2129-663G>T) n.3075G>T n.3283G>T c.2492G>T (p.Ser831Ile) c.1517G>T (p.Ser506Ile) c.2231G>T (p.Ser744Ile) c.3209G>T (p.Ser1070Ile) n.3027G>T n.3235G>T	ClinVar dbSNP
1	g.197434938T>A	CA344045228	CRB1	c.3075T>A (p.Ser1025Arg) c.1956T>A (p.Ser652Arg) c.1218T>A (p.Ser406Arg) c.2739T>A (p.Ser913Arg) c.3003T>A (p.Ser1001Arg) c.2129-662T>A (n.2129-662T>A) n.3076T>A n.3284T>A c.2493T>A (p.Ser831Arg) c.1518T>A (p.Ser506Arg) c.2232T>A (p.Ser744Arg) c.3210T>A (p.Ser1070Arg) n.3028T>A n.3236T>A
1	g.197434938T>C	CA422808763	CRB1	c.3075T>C (p.Ser1025=) c.1956T>C (p.Ser652=) c.1218T>C (p.Ser406=) c.2739T>C (p.Ser913=) c.3003T>C (p.Ser1001=) c.2129-662T>C (n.2129-662T>C) n.3076T>C n.3284T>C c.2493T>C (p.Ser831=) c.1518T>C (p.Ser506=) c.2232T>C (p.Ser744=) c.3210T>C (p.Ser1070=) n.3028T>C n.3236T>C	ClinVar
1	g.197434938T>G	CA344045232	CRB1	c.3075T>G (p.Ser1025Arg) c.1956T>G (p.Ser652Arg) c.1218T>G (p.Ser406Arg) c.2739T>G (p.Ser913Arg) c.3003T>G (p.Ser1001Arg) c.2129-662T>G (n.2129-662T>G) n.3076T>G n.3284T>G c.2493T>G (p.Ser831Arg) c.1518T>G (p.Ser506Arg) c.2232T>G (p.Ser744Arg) c.3210T>G (p.Ser1070Arg) n.3028T>G n.3236T>G
1	g.197434939T>A	CA344045233	CRB1	c.3076T>A (p.Leu1026Met) c.1957T>A (p.Leu653Met) c.1219T>A (p.Leu407Met) c.2740T>A (p.Leu914Met) c.3004T>A (p.Leu1002Met) c.2129-661T>A (n.2129-661T>A) n.3077T>A n.3285T>A c.2494T>A (p.Leu832Met) c.1519T>A (p.Leu507Met) c.2233T>A (p.Leu745Met) c.3211T>A (p.Leu1071Met) n.3029T>A n.3237T>A
1	g.197434939T>C	CA422808765	CRB1	c.3076T>C (p.Leu1026=) c.1957T>C (p.Leu653=) c.1219T>C (p.Leu407=) c.2740T>C (p.Leu914=) c.3004T>C (p.Leu1002=) c.2129-661T>C (n.2129-661T>C) n.3077T>C n.3285T>C c.2494T>C (p.Leu832=) c.1519T>C (p.Leu507=) c.2233T>C (p.Leu745=) c.3211T>C (p.Leu1071=) n.3029T>C n.3237T>C	gnomAD v4
1	g.197434939T>G	CA344045234	CRB1	c.3076T>G (p.Leu1026Val) c.1957T>G (p.Leu653Val) c.1219T>G (p.Leu407Val) c.2740T>G (p.Leu914Val) c.3004T>G (p.Leu1002Val) c.2129-661T>G (n.2129-661T>G) n.3077T>G n.3285T>G c.2494T>G (p.Leu832Val) c.1519T>G (p.Leu507Val) c.2233T>G (p.Leu745Val) c.3211T>G (p.Leu1071Val) n.3029T>G n.3237T>G
1	g.197434940T>A	CA344045236	CRB1	c.3077T>A (p.Leu1026Ter) c.1958T>A (p.Leu653Ter) c.1220T>A (p.Leu407Ter) c.2741T>A (p.Leu914Ter) c.3005T>A (p.Leu1002Ter) c.2129-660T>A (n.2129-660T>A) n.3078T>A n.3286T>A c.2495T>A (p.Leu832Ter) c.1520T>A (p.Leu507Ter) c.2234T>A (p.Leu745Ter) c.3212T>A (p.Leu1071Ter) n.3030T>A n.3238T>A
1	g.197434940T>C	CA344045239	CRB1	c.3077T>C (p.Leu1026Ser) c.1958T>C (p.Leu653Ser) c.1220T>C (p.Leu407Ser) c.2741T>C (p.Leu914Ser) c.3005T>C (p.Leu1002Ser) c.2129-660T>C (n.2129-660T>C) n.3078T>C n.3286T>C c.2495T>C (p.Leu832Ser) c.1520T>C (p.Leu507Ser) c.2234T>C (p.Leu745Ser) c.3212T>C (p.Leu1071Ser) n.3030T>C n.3238T>C	gnomAD v4
1	g.197434940T>G	CA344045242	CRB1	c.3077T>G (p.Leu1026Trp) c.1958T>G (p.Leu653Trp) c.1220T>G (p.Leu407Trp) c.2741T>G (p.Leu914Trp) c.3005T>G (p.Leu1002Trp) c.2129-660T>G (n.2129-660T>G) n.3078T>G n.3286T>G c.2495T>G (p.Leu832Trp) c.1520T>G (p.Leu507Trp) c.2234T>G (p.Leu745Trp) c.3212T>G (p.Leu1071Trp) n.3030T>G n.3238T>G
1	g.197434941G>A	CA422808766	CRB1	c.3078G>A (p.Leu1026=) c.1959G>A (p.Leu653=) c.1221G>A (p.Leu407=) c.2742G>A (p.Leu914=) c.3006G>A (p.Leu1002=) c.2129-659G>A (n.2129-659G>A) n.3079G>A n.3287G>A c.2496G>A (p.Leu832=) c.1521G>A (p.Leu507=) c.2235G>A (p.Leu745=) c.3213G>A (p.Leu1071=) n.3031G>A n.3239G>A
1	g.197434941G>C	CA344045247	CRB1	c.3078G>C (p.Leu1026Phe) c.1959G>C (p.Leu653Phe) c.1221G>C (p.Leu407Phe) c.2742G>C (p.Leu914Phe) c.3006G>C (p.Leu1002Phe) c.2129-659G>C (n.2129-659G>C) n.3079G>C n.3287G>C c.2496G>C (p.Leu832Phe) c.1521G>C (p.Leu507Phe) c.2235G>C (p.Leu745Phe) c.3213G>C (p.Leu1071Phe) n.3031G>C n.3239G>C
1	g.197434941G=	CA1218068726	CRB1	c.3078G= (p.Leu1026=) c.1959G= (p.Leu653=) c.1221G= (p.Leu407=) c.2742G= (p.Leu914=) c.3006G= (p.Leu1002=) c.2129-659G= (n.2129-659G=) n.3079G= n.3287G= c.2496G= (p.Leu832=) c.1521G= (p.Leu507=) c.2235G= (p.Leu745=) c.3213G= (p.Leu1071=) n.3031G= n.3239G=
1	g.197434941G>T	CA344045261	CRB1	c.3078G>T (p.Leu1026Phe) c.1959G>T (p.Leu653Phe) c.1221G>T (p.Leu407Phe) c.2742G>T (p.Leu914Phe) c.3006G>T (p.Leu1002Phe) c.2129-659G>T (n.2129-659G>T) n.3079G>T n.3287G>T c.2496G>T (p.Leu832Phe) c.1521G>T (p.Leu507Phe) c.2235G>T (p.Leu745Phe) c.3213G>T (p.Leu1071Phe) n.3031G>T n.3239G>T	dbSNP
1	g.197434942C>A	CA344045268	CRB1	c.3079C>A (p.Gln1027Lys) c.1960C>A (p.Gln654Lys) c.1222C>A (p.Gln408Lys) c.2743C>A (p.Gln915Lys) c.3007C>A (p.Gln1003Lys) c.2129-658C>A (n.2129-658C>A) n.3080C>A n.3288C>A c.2497C>A (p.Gln833Lys) c.1522C>A (p.Gln508Lys) c.2236C>A (p.Gln746Lys) c.3214C>A (p.Gln1072Lys) n.3032C>A n.3240C>A
1	g.197434942C>G	CA344045271	CRB1	c.3079C>G (p.Gln1027Glu) c.1960C>G (p.Gln654Glu) c.1222C>G (p.Gln408Glu) c.2743C>G (p.Gln915Glu) c.3007C>G (p.Gln1003Glu) c.2129-658C>G (n.2129-658C>G) n.3080C>G n.3288C>G c.2497C>G (p.Gln833Glu) c.1522C>G (p.Gln508Glu) c.2236C>G (p.Gln746Glu) c.3214C>G (p.Gln1072Glu) n.3032C>G n.3240C>G
1	g.197434942C>T	CA344045274	CRB1	c.3079C>T (p.Gln1027Ter) c.1960C>T (p.Gln654Ter) c.1222C>T (p.Gln408Ter) c.2743C>T (p.Gln915Ter) c.3007C>T (p.Gln1003Ter) c.2129-658C>T (n.2129-658C>T) n.3080C>T n.3288C>T c.2497C>T (p.Gln833Ter) c.1522C>T (p.Gln508Ter) c.2236C>T (p.Gln746Ter) c.3214C>T (p.Gln1072Ter) n.3032C>T n.3240C>T	COSMIC
1	g.197434942_197434943delinsCA	CA1218068727	CRB1	c.3079_3080delinsCA (p.Gln1027=) c.1960_1961delinsCA (p.Gln654=) c.1222_1223delinsCA (p.Gln408=) c.2743_2744delinsCA (p.Gln915=) c.3007_3008delinsCA (p.Gln1003=) c.2129-658_2129-657delinsCA (n.2129-658_2129-657delinsCA) n.3080_3081delinsCA n.3288_3289delinsCA c.2497_2498delinsCA (p.Gln833=) c.1522_1523delinsCA (p.Gln508=) c.2236_2237delinsCA (p.Gln746=) c.3214_3215delinsCA (p.Gln1072=) n.3032_3033delinsCA n.3240_3241delinsCA
1	g.197434943del	CA913189557	CRB1	c.3080del (p.Gln1027ArgfsTer3) c.1961del (p.Gln654ArgfsTer3) c.1223del (p.Gln408ArgfsTer3) c.2744del (p.Gln915ArgfsTer3) c.3008del (p.Gln1003ArgfsTer3) c.2129-657del (n.2129-657del) n.3081del n.3289del c.2498del (p.Gln833ArgfsTer3) c.1523del (p.Gln508ArgfsTer3) c.2237del (p.Gln746ArgfsTer3) c.3215del (p.Gln1072ArgfsTer3) n.3033del n.3241del	ClinVar dbSNP
1	g.197434943A>C	CA344045278	CRB1	c.3080A>C (p.Gln1027Pro) c.1961A>C (p.Gln654Pro) c.1223A>C (p.Gln408Pro) c.2744A>C (p.Gln915Pro) c.3008A>C (p.Gln1003Pro) c.2129-657A>C (n.2129-657A>C) n.3081A>C n.3289A>C c.2498A>C (p.Gln833Pro) c.1523A>C (p.Gln508Pro) c.2237A>C (p.Gln746Pro) c.3215A>C (p.Gln1072Pro) n.3033A>C n.3241A>C
1	g.197434943A>G	CA344045280	CRB1	c.3080A>G (p.Gln1027Arg) c.1961A>G (p.Gln654Arg) c.1223A>G (p.Gln408Arg) c.2744A>G (p.Gln915Arg) c.3008A>G (p.Gln1003Arg) c.2129-657A>G (n.2129-657A>G) n.3081A>G n.3289A>G c.2498A>G (p.Gln833Arg) c.1523A>G (p.Gln508Arg) c.2237A>G (p.Gln746Arg) c.3215A>G (p.Gln1072Arg) n.3033A>G n.3241A>G
1	g.197434943A>T	CA344045282	CRB1	c.3080A>T (p.Gln1027Leu) c.1961A>T (p.Gln654Leu) c.1223A>T (p.Gln408Leu) c.2744A>T (p.Gln915Leu) c.3008A>T (p.Gln1003Leu) c.2129-657A>T (n.2129-657A>T) n.3081A>T n.3289A>T c.2498A>T (p.Gln833Leu) c.1523A>T (p.Gln508Leu) c.2237A>T (p.Gln746Leu) c.3215A>T (p.Gln1072Leu) n.3033A>T n.3241A>T	ClinVar
1	g.197434944G>A	CA422808769	CRB1	c.3081G>A (p.Gln1027=) c.1962G>A (p.Gln654=) c.1224G>A (p.Gln408=) c.2745G>A (p.Gln915=) c.3009G>A (p.Gln1003=) c.2129-656G>A (n.2129-656G>A) n.3082G>A n.3290G>A c.2499G>A (p.Gln833=) c.1524G>A (p.Gln508=) c.2238G>A (p.Gln746=) c.3216G>A (p.Gln1072=) n.3034G>A n.3242G>A	dbSNP
1	g.197434944G>C	CA344045289	CRB1	c.3081G>C (p.Gln1027His) c.1962G>C (p.Gln654His) c.1224G>C (p.Gln408His) c.2745G>C (p.Gln915His) c.3009G>C (p.Gln1003His) c.2129-656G>C (n.2129-656G>C) n.3082G>C n.3290G>C c.2499G>C (p.Gln833His) c.1524G>C (p.Gln508His) c.2238G>C (p.Gln746His) c.3216G>C (p.Gln1072His) n.3034G>C n.3242G>C
1	g.197434944G=	CA1218068728	CRB1	c.3081G= (p.Gln1027=) c.1962G= (p.Gln654=) c.1224G= (p.Gln408=) c.2745G= (p.Gln915=) c.3009G= (p.Gln1003=) c.2129-656G= (n.2129-656G=) n.3082G= n.3290G= c.2499G= (p.Gln833=) c.1524G= (p.Gln508=) c.2238G= (p.Gln746=) c.3216G= (p.Gln1072=) n.3034G= n.3242G=
1	g.197434944G>T	CA344045286	CRB1	c.3081G>T (p.Gln1027His) c.1962G>T (p.Gln654His) c.1224G>T (p.Gln408His) c.2745G>T (p.Gln915His) c.3009G>T (p.Gln1003His) c.2129-656G>T (n.2129-656G>T) n.3082G>T n.3290G>T c.2499G>T (p.Gln833His) c.1524G>T (p.Gln508His) c.2238G>T (p.Gln746His) c.3216G>T (p.Gln1072His) n.3034G>T n.3242G>T	dbSNP gnomAD v2 gnomAD v4
1	g.197434945T>A	CA344045294	CRB1	c.3082T>A (p.Ser1028Thr) c.1963T>A (p.Ser655Thr) c.1225T>A (p.Ser409Thr) c.2746T>A (p.Ser916Thr) c.3010T>A (p.Ser1004Thr) c.2129-655T>A (n.2129-655T>A) n.3083T>A n.3291T>A c.2500T>A (p.Ser834Thr) c.1525T>A (p.Ser509Thr) c.2239T>A (p.Ser747Thr) c.3217T>A (p.Ser1073Thr) n.3035T>A n.3243T>A
1	g.197434945T>C	CA344045300	CRB1	c.3082T>C (p.Ser1028Pro) c.1963T>C (p.Ser655Pro) c.1225T>C (p.Ser409Pro) c.2746T>C (p.Ser916Pro) c.3010T>C (p.Ser1004Pro) c.2129-655T>C (n.2129-655T>C) n.3083T>C n.3291T>C c.2500T>C (p.Ser834Pro) c.1525T>C (p.Ser509Pro) c.2239T>C (p.Ser747Pro) c.3217T>C (p.Ser1073Pro) n.3035T>C n.3243T>C	gnomAD v4
1	g.197434945T>G	CA344045299	CRB1	c.3082T>G (p.Ser1028Ala) c.1963T>G (p.Ser655Ala) c.1225T>G (p.Ser409Ala) c.2746T>G (p.Ser916Ala) c.3010T>G (p.Ser1004Ala) c.2129-655T>G (n.2129-655T>G) n.3083T>G n.3291T>G c.2500T>G (p.Ser834Ala) c.1525T>G (p.Ser509Ala) c.2239T>G (p.Ser747Ala) c.3217T>G (p.Ser1073Ala) n.3035T>G n.3243T>G
1	g.197434946C>A	CA344045301	CRB1	c.3083C>A (p.Ser1028Ter) c.1964C>A (p.Ser655Ter) c.1226C>A (p.Ser409Ter) c.2747C>A (p.Ser916Ter) c.3011C>A (p.Ser1004Ter) c.2129-654C>A (n.2129-654C>A) n.3084C>A n.3292C>A c.2501C>A (p.Ser834Ter) c.1526C>A (p.Ser509Ter) c.2240C>A (p.Ser747Ter) c.3218C>A (p.Ser1073Ter) n.3036C>A n.3244C>A	gnomAD v4
1	g.197434946C=	CA1218068729	CRB1	c.3083C= (p.Ser1028=) c.1964C= (p.Ser655=) c.1226C= (p.Ser409=) c.2747C= (p.Ser916=) c.3011C= (p.Ser1004=) c.2129-654C= (n.2129-654C=) n.3084C= n.3292C= c.2501C= (p.Ser834=) c.1526C= (p.Ser509=) c.2240C= (p.Ser747=) c.3218C= (p.Ser1073=) n.3036C= n.3244C=
1	g.197434946C>G	CA344045302	CRB1	c.3083C>G (p.Ser1028Ter) c.1964C>G (p.Ser655Ter) c.1226C>G (p.Ser409Ter) c.2747C>G (p.Ser916Ter) c.3011C>G (p.Ser1004Ter) c.2129-654C>G (n.2129-654C>G) n.3084C>G n.3292C>G c.2501C>G (p.Ser834Ter) c.1526C>G (p.Ser509Ter) c.2240C>G (p.Ser747Ter) c.3218C>G (p.Ser1073Ter) n.3036C>G n.3244C>G	dbSNP gnomAD v2 gnomAD v4
1	g.197434946C>T	CA344045304	CRB1	c.3083C>T (p.Ser1028Leu) c.1964C>T (p.Ser655Leu) c.1226C>T (p.Ser409Leu) c.2747C>T (p.Ser916Leu) c.3011C>T (p.Ser1004Leu) c.2129-654C>T (n.2129-654C>T) n.3084C>T n.3292C>T c.2501C>T (p.Ser834Leu) c.1526C>T (p.Ser509Leu) c.2240C>T (p.Ser747Leu) c.3218C>T (p.Ser1073Leu) n.3036C>T n.3244C>T
1	g.197434947A>C	CA422808773	CRB1	c.3084A>C (p.Ser1028=) c.1965A>C (p.Ser655=) c.1227A>C (p.Ser409=) c.2748A>C (p.Ser916=) c.3012A>C (p.Ser1004=) c.2129-653A>C (n.2129-653A>C) n.3085A>C n.3293A>C c.2502A>C (p.Ser834=) c.1527A>C (p.Ser509=) c.2241A>C (p.Ser747=) c.3219A>C (p.Ser1073=) n.3037A>C n.3245A>C
1	g.197434947A>G	CA422808774	CRB1	c.3084A>G (p.Ser1028=) c.1965A>G (p.Ser655=) c.1227A>G (p.Ser409=) c.2748A>G (p.Ser916=) c.3012A>G (p.Ser1004=) c.2129-653A>G (n.2129-653A>G) n.3085A>G n.3293A>G c.2502A>G (p.Ser834=) c.1527A>G (p.Ser509=) c.2241A>G (p.Ser747=) c.3219A>G (p.Ser1073=) n.3037A>G n.3245A>G
1	g.197434947A>T	CA422808776	CRB1	c.3084A>T (p.Ser1028=) c.1965A>T (p.Ser655=) c.1227A>T (p.Ser409=) c.2748A>T (p.Ser916=) c.3012A>T (p.Ser1004=) c.2129-653A>T (n.2129-653A>T) n.3085A>T n.3293A>T c.2502A>T (p.Ser834=) c.1527A>T (p.Ser509=) c.2241A>T (p.Ser747=) c.3219A>T (p.Ser1073=) n.3037A>T n.3245A>T
1	g.197434948G>A	CA1312270	CRB1	c.3085G>A (p.Val1029Met) c.1966G>A (p.Val656Met) c.1228G>A (p.Val410Met) c.2749G>A (p.Val917Met) c.3013G>A (p.Val1005Met) c.2129-652G>A (n.2129-652G>A) n.3086G>A n.3294G>A c.2503G>A (p.Val835Met) c.1528G>A (p.Val510Met) c.2242G>A (p.Val748Met) c.3220G>A (p.Val1074Met) n.3038G>A n.3246G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1	g.197434948G>C	CA344045312	CRB1	c.3085G>C (p.Val1029Leu) c.1966G>C (p.Val656Leu) c.1228G>C (p.Val410Leu) c.2749G>C (p.Val917Leu) c.3013G>C (p.Val1005Leu) c.2129-652G>C (n.2129-652G>C) n.3086G>C n.3294G>C c.2503G>C (p.Val835Leu) c.1528G>C (p.Val510Leu) c.2242G>C (p.Val748Leu) c.3220G>C (p.Val1074Leu) n.3038G>C n.3246G>C
1	g.197434948G=	CA1218068730	CRB1	c.3085G= (p.Val1029=) c.1966G= (p.Val656=) c.1228G= (p.Val410=) c.2749G= (p.Val917=) c.3013G= (p.Val1005=) c.2129-652G= (n.2129-652G=) n.3086G= n.3294G= c.2503G= (p.Val835=) c.1528G= (p.Val510=) c.2242G= (p.Val748=) c.3220G= (p.Val1074=) n.3038G= n.3246G=
1	g.197434948G>T	CA344045316	CRB1	c.3085G>T (p.Val1029Leu) c.1966G>T (p.Val656Leu) c.1228G>T (p.Val410Leu) c.2749G>T (p.Val917Leu) c.3013G>T (p.Val1005Leu) c.2129-652G>T (n.2129-652G>T) n.3086G>T n.3294G>T c.2503G>T (p.Val835Leu) c.1528G>T (p.Val510Leu) c.2242G>T (p.Val748Leu) c.3220G>T (p.Val1074Leu) n.3038G>T n.3246G>T
1	g.197434949T>A	CA16621584	CRB1	c.3086T>A (p.Val1029Glu) c.1967T>A (p.Val656Glu) c.1229T>A (p.Val410Glu) c.2750T>A (p.Val917Glu) c.3014T>A (p.Val1005Glu) c.2129-651T>A (n.2129-651T>A) n.3087T>A n.3295T>A c.2504T>A (p.Val835Glu) c.1529T>A (p.Val510Glu) c.2243T>A (p.Val748Glu) c.3221T>A (p.Val1074Glu) n.3039T>A n.3247T>A	ClinVar dbSNP
1	g.197434949T>C	CA344045342	CRB1	c.3086T>C (p.Val1029Ala) c.1967T>C (p.Val656Ala) c.1229T>C (p.Val410Ala) c.2750T>C (p.Val917Ala) c.3014T>C (p.Val1005Ala) c.2129-651T>C (n.2129-651T>C) n.3087T>C n.3295T>C c.2504T>C (p.Val835Ala) c.1529T>C (p.Val510Ala) c.2243T>C (p.Val748Ala) c.3221T>C (p.Val1074Ala) n.3039T>C n.3247T>C	ClinVar dbSNP
1	g.197434949T>G	CA344045343	CRB1	c.3086T>G (p.Val1029Gly) c.1967T>G (p.Val656Gly) c.1229T>G (p.Val410Gly) c.2750T>G (p.Val917Gly) c.3014T>G (p.Val1005Gly) c.2129-651T>G (n.2129-651T>G) n.3087T>G n.3295T>G c.2504T>G (p.Val835Gly) c.1529T>G (p.Val510Gly) c.2243T>G (p.Val748Gly) c.3221T>G (p.Val1074Gly) n.3039T>G n.3247T>G
1	g.197434949T=	CA1218068731	CRB1	c.3086T= (p.Val1029=) c.1967T= (p.Val656=) c.1229T= (p.Val410=) c.2750T= (p.Val917=) c.3014T= (p.Val1005=) c.2129-651T= (n.2129-651T=) n.3087T= n.3295T= c.2504T= (p.Val835=) c.1529T= (p.Val510=) c.2243T= (p.Val748=) c.3221T= (p.Val1074=) n.3039T= n.3247T=
1	g.197434950G>A	CA1312271	CRB1	c.3087G>A (p.Val1029=) c.1968G>A (p.Val656=) c.1230G>A (p.Val410=) c.2751G>A (p.Val917=) c.3015G>A (p.Val1005=) c.2129-650G>A (n.2129-650G>A) n.3088G>A n.3296G>A c.2505G>A (p.Val835=) c.1530G>A (p.Val510=) c.2244G>A (p.Val748=) c.3222G>A (p.Val1074=) n.3040G>A n.3248G>A	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.197434950G>C	CA422808779	CRB1	c.3087G>C (p.Val1029=) c.1968G>C (p.Val656=) c.1230G>C (p.Val410=) c.2751G>C (p.Val917=) c.3015G>C (p.Val1005=) c.2129-650G>C (n.2129-650G>C) n.3088G>C n.3296G>C c.2505G>C (p.Val835=) c.1530G>C (p.Val510=) c.2244G>C (p.Val748=) c.3222G>C (p.Val1074=) n.3040G>C n.3248G>C
1	g.197434950G=	CA1218068732	CRB1	c.3087G= (p.Val1029=) c.1968G= (p.Val656=) c.1230G= (p.Val410=) c.2751G= (p.Val917=) c.3015G= (p.Val1005=) c.2129-650G= (n.2129-650G=) n.3088G= n.3296G= c.2505G= (p.Val835=) c.1530G= (p.Val510=) c.2244G= (p.Val748=) c.3222G= (p.Val1074=) n.3040G= n.3248G=
1	g.197434950G>T	CA422808781	CRB1	c.3087G>T (p.Val1029=) c.1968G>T (p.Val656=) c.1230G>T (p.Val410=) c.2751G>T (p.Val917=) c.3015G>T (p.Val1005=) c.2129-650G>T (n.2129-650G>T) n.3088G>T n.3296G>T c.2505G>T (p.Val835=) c.1530G>T (p.Val510=) c.2244G>T (p.Val748=) c.3222G>T (p.Val1074=) n.3040G>T n.3248G>T	dbSNP
1	g.197434951A>C	CA344045348	CRB1	c.3088A>C (p.Asn1030His) c.1969A>C (p.Asn657His) c.1231A>C (p.Asn411His) c.2752A>C (p.Asn918His) c.3016A>C (p.Asn1006His) c.2129-649A>C (n.2129-649A>C) n.3089A>C n.3297A>C c.2506A>C (p.Asn836His) c.1531A>C (p.Asn511His) c.2245A>C (p.Asn749His) c.3223A>C (p.Asn1075His) n.3041A>C n.3249A>C
1	g.197434951A>G	CA344045351	CRB1	c.3088A>G (p.Asn1030Asp) c.1969A>G (p.Asn657Asp) c.1231A>G (p.Asn411Asp) c.2752A>G (p.Asn918Asp) c.3016A>G (p.Asn1006Asp) c.2129-649A>G (n.2129-649A>G) n.3089A>G n.3297A>G c.2506A>G (p.Asn836Asp) c.1531A>G (p.Asn511Asp) c.2245A>G (p.Asn749Asp) c.3223A>G (p.Asn1075Asp) n.3041A>G n.3249A>G
1	g.197434951A>T	CA344045354	CRB1	c.3088A>T (p.Asn1030Tyr) c.1969A>T (p.Asn657Tyr) c.1231A>T (p.Asn411Tyr) c.2752A>T (p.Asn918Tyr) c.3016A>T (p.Asn1006Tyr) c.2129-649A>T (n.2129-649A>T) n.3089A>T n.3297A>T c.2506A>T (p.Asn836Tyr) c.1531A>T (p.Asn511Tyr) c.2245A>T (p.Asn749Tyr) c.3223A>T (p.Asn1075Tyr) n.3041A>T n.3249A>T
1	g.197434952A>C	CA344045361	CRB1	c.3089A>C (p.Asn1030Thr) c.1970A>C (p.Asn657Thr) c.1232A>C (p.Asn411Thr) c.2753A>C (p.Asn918Thr) c.3017A>C (p.Asn1006Thr) c.2129-648A>C (n.2129-648A>C) n.3090A>C n.3298A>C c.2507A>C (p.Asn836Thr) c.1532A>C (p.Asn511Thr) c.2246A>C (p.Asn749Thr) c.3224A>C (p.Asn1075Thr) n.3042A>C n.3250A>C
1	g.197434952A>G	CA344045369	CRB1	c.3089A>G (p.Asn1030Ser) c.1970A>G (p.Asn657Ser) c.1232A>G (p.Asn411Ser) c.2753A>G (p.Asn918Ser) c.3017A>G (p.Asn1006Ser) c.2129-648A>G (n.2129-648A>G) n.3090A>G n.3298A>G c.2507A>G (p.Asn836Ser) c.1532A>G (p.Asn511Ser) c.2246A>G (p.Asn749Ser) c.3224A>G (p.Asn1075Ser) n.3042A>G n.3250A>G
1	g.197434952A>T	CA344045367	CRB1	c.3089A>T (p.Asn1030Ile) c.1970A>T (p.Asn657Ile) c.1232A>T (p.Asn411Ile) c.2753A>T (p.Asn918Ile) c.3017A>T (p.Asn1006Ile) c.2129-648A>T (n.2129-648A>T) n.3090A>T n.3298A>T c.2507A>T (p.Asn836Ile) c.1532A>T (p.Asn511Ile) c.2246A>T (p.Asn749Ile) c.3224A>T (p.Asn1075Ile) n.3042A>T n.3250A>T
1	g.197434953T>A	CA344045374	CRB1	c.3090T>A (p.Asn1030Lys) c.1971T>A (p.Asn657Lys) c.1233T>A (p.Asn411Lys) c.2754T>A (p.Asn918Lys) c.3018T>A (p.Asn1006Lys) c.2129-647T>A (n.2129-647T>A) n.3091T>A n.3299T>A c.2508T>A (p.Asn836Lys) c.1533T>A (p.Asn511Lys) c.2247T>A (p.Asn749Lys) c.3225T>A (p.Asn1075Lys) n.3043T>A n.3251T>A
1	g.197434953T>C	CA422808784	CRB1	c.3090T>C (p.Asn1030=) c.1971T>C (p.Asn657=) c.1233T>C (p.Asn411=) c.2754T>C (p.Asn918=) c.3018T>C (p.Asn1006=) c.2129-647T>C (n.2129-647T>C) n.3091T>C n.3299T>C c.2508T>C (p.Asn836=) c.1533T>C (p.Asn511=) c.2247T>C (p.Asn749=) c.3225T>C (p.Asn1075=) n.3043T>C n.3251T>C
1	g.197434953T>G	CA344045378	CRB1	c.3090T>G (p.Asn1030Lys) c.1971T>G (p.Asn657Lys) c.1233T>G (p.Asn411Lys) c.2754T>G (p.Asn918Lys) c.3018T>G (p.Asn1006Lys) c.2129-647T>G (n.2129-647T>G) n.3091T>G n.3299T>G c.2508T>G (p.Asn836Lys) c.1533T>G (p.Asn511Lys) c.2247T>G (p.Asn749Lys) c.3225T>G (p.Asn1075Lys) n.3043T>G n.3251T>G
1	g.197434953_197434954insAATCTG	CA2564676228	CRB1	c.3090_3091insAATCTG (p.Asn1030_Asp1031insAsnLeu) c.1971_1972insAATCTG (p.Asn657_Asp658insAsnLeu) c.1233_1234insAATCTG (p.Asn411_Asp412insAsnLeu) c.2754_2755insAATCTG (p.Asn918_Asp919insAsnLeu) c.3018_3019insAATCTG (p.Asn1006_Asp1007insAsnLeu) c.2129-647_2129-646insAATCTG (n.2129-647_2129-646insAATCTG) n.3091_3092insAATCTG n.3299_3300insAATCTG c.2508_2509insAATCTG (p.Asn836_Asp837insAsnLeu) c.1533_1534insAATCTG (p.Asn511_Asp512insAsnLeu) c.2247_2248insAATCTG (p.Asn749_Asp750insAsnLeu) c.3225_3226insAATCTG (p.Asn1075_Asp1076insAsnLeu) n.3043_3044insAATCTG n.3251_3252insAATCTG
1	g.197434954G>A	CA344045388	CRB1	c.3091G>A (p.Asp1031Asn) c.1972G>A (p.Asp658Asn) c.1234G>A (p.Asp412Asn) c.2755G>A (p.Asp919Asn) c.3019G>A (p.Asp1007Asn) c.2129-646G>A (n.2129-646G>A) n.3092G>A n.3300G>A c.2509G>A (p.Asp837Asn) c.1534G>A (p.Asp512Asn) c.2248G>A (p.Asp750Asn) c.3226G>A (p.Asp1076Asn) n.3044G>A n.3252G>A	ClinVar dbSNP
1	g.197434954G>C	CA344045391	CRB1	c.3091G>C (p.Asp1031His) c.1972G>C (p.Asp658His) c.1234G>C (p.Asp412His) c.2755G>C (p.Asp919His) c.3019G>C (p.Asp1007His) c.2129-646G>C (n.2129-646G>C) n.3092G>C n.3300G>C c.2509G>C (p.Asp837His) c.1534G>C (p.Asp512His) c.2248G>C (p.Asp750His) c.3226G>C (p.Asp1076His) n.3044G>C n.3252G>C
1	g.197434954G>T	CA344045396	CRB1	c.3091G>T (p.Asp1031Tyr) c.1972G>T (p.Asp658Tyr) c.1234G>T (p.Asp412Tyr) c.2755G>T (p.Asp919Tyr) c.3019G>T (p.Asp1007Tyr) c.2129-646G>T (n.2129-646G>T) n.3092G>T n.3300G>T c.2509G>T (p.Asp837Tyr) c.1534G>T (p.Asp512Tyr) c.2248G>T (p.Asp750Tyr) c.3226G>T (p.Asp1076Tyr) n.3044G>T n.3252G>T
1	g.197434955A>C	CA344045415	CRB1	c.3092A>C (p.Asp1031Ala) c.1973A>C (p.Asp658Ala) c.1235A>C (p.Asp412Ala) c.2756A>C (p.Asp919Ala) c.3020A>C (p.Asp1007Ala) c.2129-645A>C (n.2129-645A>C) n.3093A>C n.3301A>C c.2510A>C (p.Asp837Ala) c.1535A>C (p.Asp512Ala) c.2249A>C (p.Asp750Ala) c.3227A>C (p.Asp1076Ala) n.3045A>C n.3253A>C
1	g.197434955A>G	CA344045417	CRB1	c.3092A>G (p.Asp1031Gly) c.1973A>G (p.Asp658Gly) c.1235A>G (p.Asp412Gly) c.2756A>G (p.Asp919Gly) c.3020A>G (p.Asp1007Gly) c.2129-645A>G (n.2129-645A>G) n.3093A>G n.3301A>G c.2510A>G (p.Asp837Gly) c.1535A>G (p.Asp512Gly) c.2249A>G (p.Asp750Gly) c.3227A>G (p.Asp1076Gly) n.3045A>G n.3253A>G
1	g.197434955A>T	CA344045418	CRB1	c.3092A>T (p.Asp1031Val) c.1973A>T (p.Asp658Val) c.1235A>T (p.Asp412Val) c.2756A>T (p.Asp919Val) c.3020A>T (p.Asp1007Val) c.2129-645A>T (n.2129-645A>T) n.3093A>T n.3301A>T c.2510A>T (p.Asp837Val) c.1535A>T (p.Asp512Val) c.2249A>T (p.Asp750Val) c.3227A>T (p.Asp1076Val) n.3045A>T n.3253A>T
1	g.197434955_197434956insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT	CA2510878745	CRB1	c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1031GlufsTer3) c.1973_1974insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp658GlufsTer3) c.1235_1236insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp412GlufsTer3) c.2756_2757insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp919GlufsTer3) c.3020_3021insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1007GlufsTer3) c.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (n.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT) n.3093_3094insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT n.3301_3302insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT c.2510_2511insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp837GlufsTer3) c.1535_1536insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp512GlufsTer3) c.2249_2250insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp750GlufsTer3) c.3227_3228insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1076GlufsTer3) n.3045_3046insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT n.3253_3254insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
1	g.197434956T>A	CA344045426	CRB1	c.3093T>A (p.Asp1031Glu) c.1974T>A (p.Asp658Glu) c.1236T>A (p.Asp412Glu) c.2757T>A (p.Asp919Glu) c.3021T>A (p.Asp1007Glu) c.2129-644T>A (n.2129-644T>A) n.3094T>A n.3302T>A c.2511T>A (p.Asp837Glu) c.1536T>A (p.Asp512Glu) c.2250T>A (p.Asp750Glu) c.3228T>A (p.Asp1076Glu) n.3046T>A n.3254T>A	gnomAD v4
1	g.197434956T>C	CA422808787	CRB1	c.3093T>C (p.Asp1031=) c.1974T>C (p.Asp658=) c.1236T>C (p.Asp412=) c.2757T>C (p.Asp919=) c.3021T>C (p.Asp1007=) c.2129-644T>C (n.2129-644T>C) n.3094T>C n.3302T>C c.2511T>C (p.Asp837=) c.1536T>C (p.Asp512=) c.2250T>C (p.Asp750=) c.3228T>C (p.Asp1076=) n.3046T>C n.3254T>C	ClinVar dbSNP
1	g.197434956T>G	CA344045431	CRB1	c.3093T>G (p.Asp1031Glu) c.1974T>G (p.Asp658Glu) c.1236T>G (p.Asp412Glu) c.2757T>G (p.Asp919Glu) c.3021T>G (p.Asp1007Glu) c.2129-644T>G (n.2129-644T>G) n.3094T>G n.3302T>G c.2511T>G (p.Asp837Glu) c.1536T>G (p.Asp512Glu) c.2250T>G (p.Asp750Glu) c.3228T>G (p.Asp1076Glu) n.3046T>G n.3254T>G
1	g.197434956T=	CA1218068733	CRB1	c.3093T= (p.Asp1031=) c.1974T= (p.Asp658=) c.1236T= (p.Asp412=) c.2757T= (p.Asp919=) c.3021T= (p.Asp1007=) c.2129-644T= (n.2129-644T=) n.3094T= n.3302T= c.2511T= (p.Asp837=) c.1536T= (p.Asp512=) c.2250T= (p.Asp750=) c.3228T= (p.Asp1076=) n.3046T= n.3254T=
1	g.197434957G>A	CA344045443	CRB1	c.3094G>A (p.Gly1032Ser) c.1975G>A (p.Gly659Ser) c.1237G>A (p.Gly413Ser) c.2758G>A (p.Gly920Ser) c.3022G>A (p.Gly1008Ser) c.2129-643G>A (n.2129-643G>A) n.3095G>A n.3303G>A c.2512G>A (p.Gly838Ser) c.1537G>A (p.Gly513Ser) c.2251G>A (p.Gly751Ser) c.3229G>A (p.Gly1077Ser) n.3047G>A n.3255G>A	COSMIC COSMIC
1	g.197434957G>C	CA344045440	CRB1	c.3094G>C (p.Gly1032Arg) c.1975G>C (p.Gly659Arg) c.1237G>C (p.Gly413Arg) c.2758G>C (p.Gly920Arg) c.3022G>C (p.Gly1008Arg) c.2129-643G>C (n.2129-643G>C) n.3095G>C n.3303G>C c.2512G>C (p.Gly838Arg) c.1537G>C (p.Gly513Arg) c.2251G>C (p.Gly751Arg) c.3229G>C (p.Gly1077Arg) n.3047G>C n.3255G>C
1	g.197434957G>T	CA344045436	CRB1	c.3094G>T (p.Gly1032Cys) c.1975G>T (p.Gly659Cys) c.1237G>T (p.Gly413Cys) c.2758G>T (p.Gly920Cys) c.3022G>T (p.Gly1008Cys) c.2129-643G>T (n.2129-643G>T) n.3095G>T n.3303G>T c.2512G>T (p.Gly838Cys) c.1537G>T (p.Gly513Cys) c.2251G>T (p.Gly751Cys) c.3229G>T (p.Gly1077Cys) n.3047G>T n.3255G>T
1	g.197434958G>A	CA1312272	CRB1	c.3095G>A (p.Gly1032Asp) c.1976G>A (p.Gly659Asp) c.1238G>A (p.Gly413Asp) c.2759G>A (p.Gly920Asp) c.3023G>A (p.Gly1008Asp) c.2129-642G>A (n.2129-642G>A) n.3096G>A n.3304G>A c.2513G>A (p.Gly838Asp) c.1538G>A (p.Gly513Asp) c.2252G>A (p.Gly751Asp) c.3230G>A (p.Gly1077Asp) n.3048G>A n.3256G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1	g.197434958G>C	CA344045447	CRB1	c.3095G>C (p.Gly1032Ala) c.1976G>C (p.Gly659Ala) c.1238G>C (p.Gly413Ala) c.2759G>C (p.Gly920Ala) c.3023G>C (p.Gly1008Ala) c.2129-642G>C (n.2129-642G>C) n.3096G>C n.3304G>C c.2513G>C (p.Gly838Ala) c.1538G>C (p.Gly513Ala) c.2252G>C (p.Gly751Ala) c.3230G>C (p.Gly1077Ala) n.3048G>C n.3256G>C
1	g.197434958G=	CA1147864130	CRB1	c.3095G= (p.Gly1032=) c.1976G= (p.Gly659=) c.1238G= (p.Gly413=) c.2759G= (p.Gly920=) c.3023G= (p.Gly1008=) c.2129-642G= (n.2129-642G=) n.3096G= n.3304G= c.2513G= (p.Gly838=) c.1538G= (p.Gly513=) c.2252G= (p.Gly751=) c.3230G= (p.Gly1077=) n.3048G= n.3256G=
1	g.197434958G>T	CA344045451	CRB1	c.3095G>T (p.Gly1032Val) c.1976G>T (p.Gly659Val) c.1238G>T (p.Gly413Val) c.2759G>T (p.Gly920Val) c.3023G>T (p.Gly1008Val) c.2129-642G>T (n.2129-642G>T) n.3096G>T n.3304G>T c.2513G>T (p.Gly838Val) c.1538G>T (p.Gly513Val) c.2252G>T (p.Gly751Val) c.3230G>T (p.Gly1077Val) n.3048G>T n.3256G>T
1	g.197434959C>A	CA422808788	CRB1	c.3096C>A (p.Gly1032=) c.1977C>A (p.Gly659=) c.1239C>A (p.Gly413=) c.2760C>A (p.Gly920=) c.3024C>A (p.Gly1008=) c.2129-641C>A (n.2129-641C>A) n.3097C>A n.3305C>A c.2514C>A (p.Gly838=) c.1539C>A (p.Gly513=) c.2253C>A (p.Gly751=) c.3231C>A (p.Gly1077=) n.3049C>A n.3257C>A
1	g.197434959C=	CA1218068734	CRB1	c.3096C= (p.Gly1032=) c.1977C= (p.Gly659=) c.1239C= (p.Gly413=) c.2760C= (p.Gly920=) c.3024C= (p.Gly1008=) c.2129-641C= (n.2129-641C=) n.3097C= n.3305C= c.2514C= (p.Gly838=) c.1539C= (p.Gly513=) c.2253C= (p.Gly751=) c.3231C= (p.Gly1077=) n.3049C= n.3257C=
1	g.197434959C>G	CA422808789	CRB1	c.3096C>G (p.Gly1032=) c.1977C>G (p.Gly659=) c.1239C>G (p.Gly413=) c.2760C>G (p.Gly920=) c.3024C>G (p.Gly1008=) c.2129-641C>G (n.2129-641C>G) n.3097C>G n.3305C>G c.2514C>G (p.Gly838=) c.1539C>G (p.Gly513=) c.2253C>G (p.Gly751=) c.3231C>G (p.Gly1077=) n.3049C>G n.3257C>G
1	g.197434959C>T	CA1312273	CRB1	c.3096C>T (p.Gly1032=) c.1977C>T (p.Gly659=) c.1239C>T (p.Gly413=) c.2760C>T (p.Gly920=) c.3024C>T (p.Gly1008=) c.2129-641C>T (n.2129-641C>T) n.3097C>T n.3305C>T c.2514C>T (p.Gly838=) c.1539C>T (p.Gly513=) c.2253C>T (p.Gly751=) c.3231C>T (p.Gly1077=) n.3049C>T n.3257C>T	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.197434960A>C	CA344045460	CRB1	c.3097A>C (p.Thr1033Pro) c.1978A>C (p.Thr660Pro) c.1240A>C (p.Thr414Pro) c.2761A>C (p.Thr921Pro) c.3025A>C (p.Thr1009Pro) c.2129-640A>C (n.2129-640A>C) n.3098A>C n.3306A>C c.2515A>C (p.Thr839Pro) c.1540A>C (p.Thr514Pro) c.2254A>C (p.Thr752Pro) c.3232A>C (p.Thr1078Pro) n.3050A>C n.3258A>C
1	g.197434960A>G	CA344045464	CRB1	c.3097A>G (p.Thr1033Ala) c.1978A>G (p.Thr660Ala) c.1240A>G (p.Thr414Ala) c.2761A>G (p.Thr921Ala) c.3025A>G (p.Thr1009Ala) c.2129-640A>G (n.2129-640A>G) n.3098A>G n.3306A>G c.2515A>G (p.Thr839Ala) c.1540A>G (p.Thr514Ala) c.2254A>G (p.Thr752Ala) c.3232A>G (p.Thr1078Ala) n.3050A>G n.3258A>G
1	g.197434960A>T	CA344045469	CRB1	c.3097A>T (p.Thr1033Ser) c.1978A>T (p.Thr660Ser) c.1240A>T (p.Thr414Ser) c.2761A>T (p.Thr921Ser) c.3025A>T (p.Thr1009Ser) c.2129-640A>T (n.2129-640A>T) n.3098A>T n.3306A>T c.2515A>T (p.Thr839Ser) c.1540A>T (p.Thr514Ser) c.2254A>T (p.Thr752Ser) c.3232A>T (p.Thr1078Ser) n.3050A>T n.3258A>T
1	g.197434961C>A	CA344045475	CRB1	c.3098C>A (p.Thr1033Lys) c.1979C>A (p.Thr660Lys) c.1241C>A (p.Thr414Lys) c.2762C>A (p.Thr921Lys) c.3026C>A (p.Thr1009Lys) c.2129-639C>A (n.2129-639C>A) n.3099C>A n.3307C>A c.2516C>A (p.Thr839Lys) c.1541C>A (p.Thr514Lys) c.2255C>A (p.Thr752Lys) c.3233C>A (p.Thr1078Lys) n.3051C>A n.3259C>A
1	g.197434961C=	CA1218068735	CRB1	c.3098C= (p.Thr1033=) c.1979C= (p.Thr660=) c.1241C= (p.Thr414=) c.2762C= (p.Thr921=) c.3026C= (p.Thr1009=) c.2129-639C= (n.2129-639C=) n.3099C= n.3307C= c.2516C= (p.Thr839=) c.1541C= (p.Thr514=) c.2255C= (p.Thr752=) c.3233C= (p.Thr1078=) n.3051C= n.3259C=
1	g.197434961C>G	CA344045476	CRB1	c.3098C>G (p.Thr1033Arg) c.1979C>G (p.Thr660Arg) c.1241C>G (p.Thr414Arg) c.2762C>G (p.Thr921Arg) c.3026C>G (p.Thr1009Arg) c.2129-639C>G (n.2129-639C>G) n.3099C>G n.3307C>G c.2516C>G (p.Thr839Arg) c.1541C>G (p.Thr514Arg) c.2255C>G (p.Thr752Arg) c.3233C>G (p.Thr1078Arg) n.3051C>G n.3259C>G
1	g.197434961C>T	CA1312274	CRB1	c.3098C>T (p.Thr1033Ile) c.1979C>T (p.Thr660Ile) c.1241C>T (p.Thr414Ile) c.2762C>T (p.Thr921Ile) c.3026C>T (p.Thr1009Ile) c.2129-639C>T (n.2129-639C>T) n.3099C>T n.3307C>T c.2516C>T (p.Thr839Ile) c.1541C>T (p.Thr514Ile) c.2255C>T (p.Thr752Ile) c.3233C>T (p.Thr1078Ile) n.3051C>T n.3259C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1	g.197434962A>C	CA422808794	CRB1	c.3099A>C (p.Thr1033=) c.1980A>C (p.Thr660=) c.1242A>C (p.Thr414=) c.2763A>C (p.Thr921=) c.3027A>C (p.Thr1009=) c.2129-638A>C (n.2129-638A>C) n.3100A>C n.3308A>C c.2517A>C (p.Thr839=) c.1542A>C (p.Thr514=) c.2256A>C (p.Thr752=) c.3234A>C (p.Thr1078=) n.3052A>C n.3260A>C	dbSNP
1	g.197434962A>G	CA422808795	CRB1	c.3099A>G (p.Thr1033=) c.1980A>G (p.Thr660=) c.1242A>G (p.Thr414=) c.2763A>G (p.Thr921=) c.3027A>G (p.Thr1009=) c.2129-638A>G (n.2129-638A>G) n.3100A>G n.3308A>G c.2517A>G (p.Thr839=) c.1542A>G (p.Thr514=) c.2256A>G (p.Thr752=) c.3234A>G (p.Thr1078=) n.3052A>G n.3260A>G	ClinVar dbSNP gnomAD v4
1	g.197434962A>T	CA422808796	CRB1	c.3099A>T (p.Thr1033=) c.1980A>T (p.Thr660=) c.1242A>T (p.Thr414=) c.2763A>T (p.Thr921=) c.3027A>T (p.Thr1009=) c.2129-638A>T (n.2129-638A>T) n.3100A>T n.3308A>T c.2517A>T (p.Thr839=) c.1542A>T (p.Thr514=) c.2256A>T (p.Thr752=) c.3234A>T (p.Thr1078=) n.3052A>T n.3260A>T	gnomAD v4
1	g.197434963T>A	CA344045477	CRB1	c.3100T>A (p.Trp1034Arg) c.1981T>A (p.Trp661Arg) c.1243T>A (p.Trp415Arg) c.2764T>A (p.Trp922Arg) c.3028T>A (p.Trp1010Arg) c.2129-637T>A (n.2129-637T>A) n.3101T>A n.3309T>A c.2518T>A (p.Trp840Arg) c.1543T>A (p.Trp515Arg) c.2257T>A (p.Trp753Arg) c.3235T>A (p.Trp1079Arg) n.3053T>A n.3261T>A
1	g.197434963T>C	CA344045480	CRB1	c.3100T>C (p.Trp1034Arg) c.1981T>C (p.Trp661Arg) c.1243T>C (p.Trp415Arg) c.2764T>C (p.Trp922Arg) c.3028T>C (p.Trp1010Arg) c.2129-637T>C (n.2129-637T>C) n.3101T>C n.3309T>C c.2518T>C (p.Trp840Arg) c.1543T>C (p.Trp515Arg) c.2257T>C (p.Trp753Arg) c.3235T>C (p.Trp1079Arg) n.3053T>C n.3261T>C	ClinVar dbSNP
1	g.197434963T>G	CA344045484	CRB1	c.3100T>G (p.Trp1034Gly) c.1981T>G (p.Trp661Gly) c.1243T>G (p.Trp415Gly) c.2764T>G (p.Trp922Gly) c.3028T>G (p.Trp1010Gly) c.2129-637T>G (n.2129-637T>G) n.3101T>G n.3309T>G c.2518T>G (p.Trp840Gly) c.1543T>G (p.Trp515Gly) c.2257T>G (p.Trp753Gly) c.3235T>G (p.Trp1079Gly) n.3053T>G n.3261T>G
1	g.197434963T=	CA1218068736	CRB1	c.3100T= (p.Trp1034=) c.1981T= (p.Trp661=) c.1243T= (p.Trp415=) c.2764T= (p.Trp922=) c.3028T= (p.Trp1010=) c.2129-637T= (n.2129-637T=) n.3101T= n.3309T= c.2518T= (p.Trp840=) c.1543T= (p.Trp515=) c.2257T= (p.Trp753=) c.3235T= (p.Trp1079=) n.3053T= n.3261T=
1	g.197434964G>A	CA344045514	CRB1	c.3101G>A (p.Trp1034Ter) c.1982G>A (p.Trp661Ter) c.1244G>A (p.Trp415Ter) c.2765G>A (p.Trp922Ter) c.3029G>A (p.Trp1010Ter) c.2129-636G>A (n.2129-636G>A) n.3102G>A n.3310G>A c.2519G>A (p.Trp840Ter) c.1544G>A (p.Trp515Ter) c.2258G>A (p.Trp753Ter) c.3236G>A (p.Trp1079Ter) n.3054G>A n.3262G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
1	g.197434964G>C	CA344045488	CRB1	c.3101G>C (p.Trp1034Ser) c.1982G>C (p.Trp661Ser) c.1244G>C (p.Trp415Ser) c.2765G>C (p.Trp922Ser) c.3029G>C (p.Trp1010Ser) c.2129-636G>C (n.2129-636G>C) n.3102G>C n.3310G>C c.2519G>C (p.Trp840Ser) c.1544G>C (p.Trp515Ser) c.2258G>C (p.Trp753Ser) c.3236G>C (p.Trp1079Ser) n.3054G>C n.3262G>C
1	g.197434964G=	CA1218068737	CRB1	c.3101G= (p.Trp1034=) c.1982G= (p.Trp661=) c.1244G= (p.Trp415=) c.2765G= (p.Trp922=) c.3029G= (p.Trp1010=) c.2129-636G= (n.2129-636G=) n.3102G= n.3310G= c.2519G= (p.Trp840=) c.1544G= (p.Trp515=) c.2258G= (p.Trp753=) c.3236G= (p.Trp1079=) n.3054G= n.3262G=
1	g.197434964G>T	CA344045491	CRB1	c.3101G>T (p.Trp1034Leu) c.1982G>T (p.Trp661Leu) c.1244G>T (p.Trp415Leu) c.2765G>T (p.Trp922Leu) c.3029G>T (p.Trp1010Leu) c.2129-636G>T (n.2129-636G>T) n.3102G>T n.3310G>T c.2519G>T (p.Trp840Leu) c.1544G>T (p.Trp515Leu) c.2258G>T (p.Trp753Leu) c.3236G>T (p.Trp1079Leu) n.3054G>T n.3262G>T	dbSNP
1	g.197434965G>A	CA344045516	CRB1	c.3102G>A (p.Trp1034Ter) c.1983G>A (p.Trp661Ter) c.1245G>A (p.Trp415Ter) c.2766G>A (p.Trp922Ter) c.3030G>A (p.Trp1010Ter) c.2129-635G>A (n.2129-635G>A) n.3103G>A n.3311G>A c.2520G>A (p.Trp840Ter) c.1545G>A (p.Trp515Ter) c.2259G>A (p.Trp753Ter) c.3237G>A (p.Trp1079Ter) n.3055G>A n.3263G>A	ClinVar dbSNP COSMIC
1	g.197434965G>C	CA344045518	CRB1	c.3102G>C (p.Trp1034Cys) c.1983G>C (p.Trp661Cys) c.1245G>C (p.Trp415Cys) c.2766G>C (p.Trp922Cys) c.3030G>C (p.Trp1010Cys) c.2129-635G>C (n.2129-635G>C) n.3103G>C n.3311G>C c.2520G>C (p.Trp840Cys) c.1545G>C (p.Trp515Cys) c.2259G>C (p.Trp753Cys) c.3237G>C (p.Trp1079Cys) n.3055G>C n.3263G>C
1	g.197434965G>T	CA344045523	CRB1	c.3102G>T (p.Trp1034Cys) c.1983G>T (p.Trp661Cys) c.1245G>T (p.Trp415Cys) c.2766G>T (p.Trp922Cys) c.3030G>T (p.Trp1010Cys) c.2129-635G>T (n.2129-635G>T) n.3103G>T n.3311G>T c.2520G>T (p.Trp840Cys) c.1545G>T (p.Trp515Cys) c.2259G>T (p.Trp753Cys) c.3237G>T (p.Trp1079Cys) n.3055G>T n.3263G>T
1	g.197434966C>A	CA344045530	CRB1	c.3103C>A (p.His1035Asn) c.1984C>A (p.His662Asn) c.1246C>A (p.His416Asn) c.2767C>A (p.His923Asn) c.3031C>A (p.His1011Asn) c.2129-634C>A (n.2129-634C>A) n.3104C>A n.3312C>A c.2521C>A (p.His841Asn) c.1546C>A (p.His516Asn) c.2260C>A (p.His754Asn) c.3238C>A (p.His1080Asn) n.3056C>A n.3264C>A
1	g.197434966C=	CA1218068738	CRB1	c.3103C= (p.His1035=) c.1984C= (p.His662=) c.1246C= (p.His416=) c.2767C= (p.His923=) c.3031C= (p.His1011=) c.2129-634C= (n.2129-634C=) n.3104C= n.3312C= c.2521C= (p.His841=) c.1546C= (p.His516=) c.2260C= (p.His754=) c.3238C= (p.His1080=) n.3056C= n.3264C=
1	g.197434966C>G	CA344045554	CRB1	c.3103C>G (p.His1035Asp) c.1984C>G (p.His662Asp) c.1246C>G (p.His416Asp) c.2767C>G (p.His923Asp) c.3031C>G (p.His1011Asp) c.2129-634C>G (n.2129-634C>G) n.3104C>G n.3312C>G c.2521C>G (p.His841Asp) c.1546C>G (p.His516Asp) c.2260C>G (p.His754Asp) c.3238C>G (p.His1080Asp) n.3056C>G n.3264C>G
1	g.197434966C>T	CA1312275	CRB1	c.3103C>T (p.His1035Tyr) c.1984C>T (p.His662Tyr) c.1246C>T (p.His416Tyr) c.2767C>T (p.His923Tyr) c.3031C>T (p.His1011Tyr) c.2129-634C>T (n.2129-634C>T) n.3104C>T n.3312C>T c.2521C>T (p.His841Tyr) c.1546C>T (p.His516Tyr) c.2260C>T (p.His754Tyr) c.3238C>T (p.His1080Tyr) n.3056C>T n.3264C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1	g.197434967A>C	CA344045573	CRB1	c.3104A>C (p.His1035Pro) c.1985A>C (p.His662Pro) c.1247A>C (p.His416Pro) c.2768A>C (p.His923Pro) c.3032A>C (p.His1011Pro) c.2129-633A>C (n.2129-633A>C) n.3105A>C n.3313A>C c.2522A>C (p.His841Pro) c.1547A>C (p.His516Pro) c.2261A>C (p.His754Pro) c.3239A>C (p.His1080Pro) n.3057A>C n.3265A>C
1	g.197434967A>G	CA344045576	CRB1	c.3104A>G (p.His1035Arg) c.1985A>G (p.His662Arg) c.1247A>G (p.His416Arg) c.2768A>G (p.His923Arg) c.3032A>G (p.His1011Arg) c.2129-633A>G (n.2129-633A>G) n.3105A>G n.3313A>G c.2522A>G (p.His841Arg) c.1547A>G (p.His516Arg) c.2261A>G (p.His754Arg) c.3239A>G (p.His1080Arg) n.3057A>G n.3265A>G
1	g.197434967A>T	CA344045581	CRB1	c.3104A>T (p.His1035Leu) c.1985A>T (p.His662Leu) c.1247A>T (p.His416Leu) c.2768A>T (p.His923Leu) c.3032A>T (p.His1011Leu) c.2129-633A>T (n.2129-633A>T) n.3105A>T n.3313A>T c.2522A>T (p.His841Leu) c.1547A>T (p.His516Leu) c.2261A>T (p.His754Leu) c.3239A>T (p.His1080Leu) n.3057A>T n.3265A>T
1	g.197434968C>A	CA344045584	CRB1	c.3105C>A (p.His1035Gln) c.1986C>A (p.His662Gln) c.1248C>A (p.His416Gln) c.2769C>A (p.His923Gln) c.3033C>A (p.His1011Gln) c.2129-632C>A (n.2129-632C>A) n.3106C>A n.3314C>A c.2523C>A (p.His841Gln) c.1548C>A (p.His516Gln) c.2262C>A (p.His754Gln) c.3240C>A (p.His1080Gln) n.3058C>A n.3266C>A
1	g.197434968C=	CA1145356366	CRB1	c.3105C= (p.His1035=) c.1986C= (p.His662=) c.1248C= (p.His416=) c.2769C= (p.His923=) c.3033C= (p.His1011=) c.2129-632C= (n.2129-632C=) n.3106C= n.3314C= c.2523C= (p.His841=) c.1548C= (p.His516=) c.2262C= (p.His754=) c.3240C= (p.His1080=) n.3058C= n.3266C=
1	g.197434968C>G	CA344045587	CRB1	c.3105C>G (p.His1035Gln) c.1986C>G (p.His662Gln) c.1248C>G (p.His416Gln) c.2769C>G (p.His923Gln) c.3033C>G (p.His1011Gln) c.2129-632C>G (n.2129-632C>G) n.3106C>G n.3314C>G c.2523C>G (p.His841Gln) c.1548C>G (p.His516Gln) c.2262C>G (p.His754Gln) c.3240C>G (p.His1080Gln) n.3058C>G n.3266C>G
1	g.197434968C>T	CA1312276	CRB1	c.3105C>T (p.His1035=) c.1986C>T (p.His662=) c.1248C>T (p.His416=) c.2769C>T (p.His923=) c.3033C>T (p.His1011=) c.2129-632C>T (n.2129-632C>T) n.3106C>T n.3314C>T c.2523C>T (p.His841=) c.1548C>T (p.His516=) c.2262C>T (p.His754=) c.3240C>T (p.His1080=) n.3058C>T n.3266C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.197434969G>A	CA1312277	CRB1	c.3106G>A (p.Glu1036Lys) c.1987G>A (p.Glu663Lys) c.1249G>A (p.Glu417Lys) c.2770G>A (p.Glu924Lys) c.3034G>A (p.Glu1012Lys) c.2129-631G>A (n.2129-631G>A) n.3107G>A n.3315G>A c.2524G>A (p.Glu842Lys) c.1549G>A (p.Glu517Lys) c.2263G>A (p.Glu755Lys) c.3241G>A (p.Glu1081Lys) n.3059G>A n.3267G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1	g.197434969G>C	CA344045600	CRB1	c.3106G>C (p.Glu1036Gln) c.1987G>C (p.Glu663Gln) c.1249G>C (p.Glu417Gln) c.2770G>C (p.Glu924Gln) c.3034G>C (p.Glu1012Gln) c.2129-631G>C (n.2129-631G>C) n.3107G>C n.3315G>C c.2524G>C (p.Glu842Gln) c.1549G>C (p.Glu517Gln) c.2263G>C (p.Glu755Gln) c.3241G>C (p.Glu1081Gln) n.3059G>C n.3267G>C
1	g.197434969G=	CA1147023661	CRB1	c.3106G= (p.Glu1036=) c.1987G= (p.Glu663=) c.1249G= (p.Glu417=) c.2770G= (p.Glu924=) c.3034G= (p.Glu1012=) c.2129-631G= (n.2129-631G=) n.3107G= n.3315G= c.2524G= (p.Glu842=) c.1549G= (p.Glu517=) c.2263G= (p.Glu755=) c.3241G= (p.Glu1081=) n.3059G= n.3267G=
1	g.197434969G>T	CA344045596	CRB1	c.3106G>T (p.Glu1036Ter) c.1987G>T (p.Glu663Ter) c.1249G>T (p.Glu417Ter) c.2770G>T (p.Glu924Ter) c.3034G>T (p.Glu1012Ter) c.2129-631G>T (n.2129-631G>T) n.3107G>T n.3315G>T c.2524G>T (p.Glu842Ter) c.1549G>T (p.Glu517Ter) c.2263G>T (p.Glu755Ter) c.3241G>T (p.Glu1081Ter) n.3059G>T n.3267G>T	COSMIC
1	g.197434970A=	CA1148378936	CRB1	c.3107A= (p.Glu1036=) c.1988A= (p.Glu663=) c.1250A= (p.Glu417=) c.2771A= (p.Glu924=) c.3035A= (p.Glu1012=) c.2129-630A= (n.2129-630A=) n.3108A= n.3316A= c.2525A= (p.Glu842=) c.1550A= (p.Glu517=) c.2264A= (p.Glu755=) c.3242A= (p.Glu1081=) n.3060A= n.3268A=
1	g.197434970A>C	CA1312278	CRB1	c.3107A>C (p.Glu1036Ala) c.1988A>C (p.Glu663Ala) c.1250A>C (p.Glu417Ala) c.2771A>C (p.Glu924Ala) c.3035A>C (p.Glu1012Ala) c.2129-630A>C (n.2129-630A>C) n.3108A>C n.3316A>C c.2525A>C (p.Glu842Ala) c.1550A>C (p.Glu517Ala) c.2264A>C (p.Glu755Ala) c.3242A>C (p.Glu1081Ala) n.3060A>C n.3268A>C	dbSNP ExAC gnomAD v2
1	g.197434970A>G	CA344045628	CRB1	c.3107A>G (p.Glu1036Gly) c.1988A>G (p.Glu663Gly) c.1250A>G (p.Glu417Gly) c.2771A>G (p.Glu924Gly) c.3035A>G (p.Glu1012Gly) c.2129-630A>G (n.2129-630A>G) n.3108A>G n.3316A>G c.2525A>G (p.Glu842Gly) c.1550A>G (p.Glu517Gly) c.2264A>G (p.Glu755Gly) c.3242A>G (p.Glu1081Gly) n.3060A>G n.3268A>G	gnomAD v4
1	g.197434970A>T	CA344045624	CRB1	c.3107A>T (p.Glu1036Val) c.1988A>T (p.Glu663Val) c.1250A>T (p.Glu417Val) c.2771A>T (p.Glu924Val) c.3035A>T (p.Glu1012Val) c.2129-630A>T (n.2129-630A>T) n.3108A>T n.3316A>T c.2525A>T (p.Glu842Val) c.1550A>T (p.Glu517Val) c.2264A>T (p.Glu755Val) c.3242A>T (p.Glu1081Val) n.3060A>T n.3268A>T
1	g.197434971A>C	CA344045630	CRB1	c.3108A>C (p.Glu1036Asp) c.1989A>C (p.Glu663Asp) c.1251A>C (p.Glu417Asp) c.2772A>C (p.Glu924Asp) c.3036A>C (p.Glu1012Asp) c.2129-629A>C (n.2129-629A>C) n.3109A>C n.3317A>C c.2526A>C (p.Glu842Asp) c.1551A>C (p.Glu517Asp) c.2265A>C (p.Glu755Asp) c.3243A>C (p.Glu1081Asp) n.3061A>C n.3269A>C
1	g.197434971A>G	CA422808808	CRB1	c.3108A>G (p.Glu1036=) c.1989A>G (p.Glu663=) c.1251A>G (p.Glu417=) c.2772A>G (p.Glu924=) c.3036A>G (p.Glu1012=) c.2129-629A>G (n.2129-629A>G) n.3109A>G n.3317A>G c.2526A>G (p.Glu842=) c.1551A>G (p.Glu517=) c.2265A>G (p.Glu755=) c.3243A>G (p.Glu1081=) n.3061A>G n.3269A>G	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1	g.197434971A>T	CA344045634	CRB1	c.3108A>T (p.Glu1036Asp) c.1989A>T (p.Glu663Asp) c.1251A>T (p.Glu417Asp) c.2772A>T (p.Glu924Asp) c.3036A>T (p.Glu1012Asp) c.2129-629A>T (n.2129-629A>T) n.3109A>T n.3317A>T c.2526A>T (p.Glu842Asp) c.1551A>T (p.Glu517Asp) c.2265A>T (p.Glu755Asp) c.3243A>T (p.Glu1081Asp) n.3061A>T n.3269A>T
1	g.197434972G>A	CA344045650	CRB1	c.3109G>A (p.Val1037Met) c.1990G>A (p.Val664Met) c.1252G>A (p.Val418Met) c.2773G>A (p.Val925Met) c.3037G>A (p.Val1013Met) c.2129-628G>A (n.2129-628G>A) n.3110G>A n.3318G>A c.2527G>A (p.Val843Met) c.1552G>A (p.Val518Met) c.2266G>A (p.Val756Met) c.3244G>A (p.Val1082Met) n.3062G>A n.3270G>A
1	g.197434972G>C	CA344045651	CRB1	c.3109G>C (p.Val1037Leu) c.1990G>C (p.Val664Leu) c.1252G>C (p.Val418Leu) c.2773G>C (p.Val925Leu) c.3037G>C (p.Val1013Leu) c.2129-628G>C (n.2129-628G>C) n.3110G>C n.3318G>C c.2527G>C (p.Val843Leu) c.1552G>C (p.Val518Leu) c.2266G>C (p.Val756Leu) c.3244G>C (p.Val1082Leu) n.3062G>C n.3270G>C
1	g.197434972G=	CA1218068739	CRB1	c.3109G= (p.Val1037=) c.1990G= (p.Val664=) c.1252G= (p.Val418=) c.2773G= (p.Val925=) c.3037G= (p.Val1013=) c.2129-628G= (n.2129-628G=) n.3110G= n.3318G= c.2527G= (p.Val843=) c.1552G= (p.Val518=) c.2266G= (p.Val756=) c.3244G= (p.Val1082=) n.3062G= n.3270G=
1	g.197434972G>T	CA344045655	CRB1	c.3109G>T (p.Val1037Leu) c.1990G>T (p.Val664Leu) c.1252G>T (p.Val418Leu) c.2773G>T (p.Val925Leu) c.3037G>T (p.Val1013Leu) c.2129-628G>T (n.2129-628G>T) n.3110G>T n.3318G>T c.2527G>T (p.Val843Leu) c.1552G>T (p.Val518Leu) c.2266G>T (p.Val756Leu) c.3244G>T (p.Val1082Leu) n.3062G>T n.3270G>T
1	g.197434973T>A	CA344045658	CRB1	c.3110T>A (p.Val1037Glu) c.1991T>A (p.Val664Glu) c.1253T>A (p.Val418Glu) c.2774T>A (p.Val925Glu) c.3038T>A (p.Val1013Glu) c.2129-627T>A (n.2129-627T>A) n.3111T>A n.3319T>A c.2528T>A (p.Val843Glu) c.1553T>A (p.Val518Glu) c.2267T>A (p.Val756Glu) c.3245T>A (p.Val1082Glu) n.3063T>A n.3271T>A
1	g.197434973T>C	CA35907029	CRB1	c.3110T>C (p.Val1037Ala) c.1991T>C (p.Val664Ala) c.1253T>C (p.Val418Ala) c.2774T>C (p.Val925Ala) c.3038T>C (p.Val1013Ala) c.2129-627T>C (n.2129-627T>C) n.3111T>C n.3319T>C c.2528T>C (p.Val843Ala) c.1553T>C (p.Val518Ala) c.2267T>C (p.Val756Ala) c.3245T>C (p.Val1082Ala) n.3063T>C n.3271T>C	dbSNP gnomAD v2 gnomAD v4
1	g.197434973T>G	CA344045676	CRB1	c.3110T>G (p.Val1037Gly) c.1991T>G (p.Val664Gly) c.1253T>G (p.Val418Gly) c.2774T>G (p.Val925Gly) c.3038T>G (p.Val1013Gly) c.2129-627T>G (n.2129-627T>G) n.3111T>G n.3319T>G c.2528T>G (p.Val843Gly) c.1553T>G (p.Val518Gly) c.2267T>G (p.Val756Gly) c.3245T>G (p.Val1082Gly) n.3063T>G n.3271T>G
1	g.197434973T=	CA1218068740	CRB1	c.3110T= (p.Val1037=) c.1991T= (p.Val664=) c.1253T= (p.Val418=) c.2774T= (p.Val925=) c.3038T= (p.Val1013=) c.2129-627T= (n.2129-627T=) n.3111T= n.3319T= c.2528T= (p.Val843=) c.1553T= (p.Val518=) c.2267T= (p.Val756=) c.3245T= (p.Val1082=) n.3063T= n.3271T=
1	g.197434973_197435006dup	CA1139656480	CRB1	c.3110_3143dup (p.Ser1049AspfsTer40) c.1991_2024dup (p.Ser676AspfsTer40) c.1253_1286dup (p.Ser430AspfsTer40) c.2774_2807dup (p.Ser937AspfsTer40) c.3038_3071dup (p.Ser1025AspfsTer40) c.2129-627_2129-594dup (n.2129-627_2129-594dup) n.3111_3144dup n.3319_3352dup c.2528_2561dup (p.Ser855AspfsTer40) c.1553_1586dup (p.Ser530AspfsTer40) c.2267_2300dup (p.Ser768AspfsTer40) c.3245_3278dup (p.Ser1094AspfsTer40) n.3063_3096dup n.3271_3304dup	ClinVar dbSNP gnomAD v4
1	g.197434974G>A	CA422808813	CRB1	c.3111G>A (p.Val1037=) c.1992G>A (p.Val664=) c.1254G>A (p.Val418=) c.2775G>A (p.Val925=) c.3039G>A (p.Val1013=) c.2129-626G>A (n.2129-626G>A) n.3112G>A n.3320G>A c.2529G>A (p.Val843=) c.1554G>A (p.Val518=) c.2268G>A (p.Val756=) c.3246G>A (p.Val1082=) n.3064G>A n.3272G>A
1	g.197434974G>C	CA422808814	CRB1	c.3111G>C (p.Val1037=) c.1992G>C (p.Val664=) c.1254G>C (p.Val418=) c.2775G>C (p.Val925=) c.3039G>C (p.Val1013=) c.2129-626G>C (n.2129-626G>C) n.3112G>C n.3320G>C c.2529G>C (p.Val843=) c.1554G>C (p.Val518=) c.2268G>C (p.Val756=) c.3246G>C (p.Val1082=) n.3064G>C n.3272G>C	ClinVar dbSNP
1	g.197434974G=	CA1218068741	CRB1	c.3111G= (p.Val1037=) c.1992G= (p.Val664=) c.1254G= (p.Val418=) c.2775G= (p.Val925=) c.3039G= (p.Val1013=) c.2129-626G= (n.2129-626G=) n.3112G= n.3320G= c.2529G= (p.Val843=) c.1554G= (p.Val518=) c.2268G= (p.Val756=) c.3246G= (p.Val1082=) n.3064G= n.3272G=
1	g.197434974G>T	CA422808815	CRB1	c.3111G>T (p.Val1037=) c.1992G>T (p.Val664=) c.1254G>T (p.Val418=) c.2775G>T (p.Val925=) c.3039G>T (p.Val1013=) c.2129-626G>T (n.2129-626G>T) n.3112G>T n.3320G>T c.2529G>T (p.Val843=) c.1554G>T (p.Val518=) c.2268G>T (p.Val756=) c.3246G>T (p.Val1082=) n.3064G>T n.3272G>T
1	g.197434975A>C	CA344045678	CRB1	c.3112A>C (p.Thr1038Pro) c.1993A>C (p.Thr665Pro) c.1255A>C (p.Thr419Pro) c.2776A>C (p.Thr926Pro) c.3040A>C (p.Thr1014Pro) c.2129-625A>C (n.2129-625A>C) n.3113A>C n.3321A>C c.2530A>C (p.Thr844Pro) c.1555A>C (p.Thr519Pro) c.2269A>C (p.Thr757Pro) c.3247A>C (p.Thr1083Pro) n.3065A>C n.3273A>C
1	g.197434975A>G	CA344045680	CRB1	c.3112A>G (p.Thr1038Ala) c.1993A>G (p.Thr665Ala) c.1255A>G (p.Thr419Ala) c.2776A>G (p.Thr926Ala) c.3040A>G (p.Thr1014Ala) c.2129-625A>G (n.2129-625A>G) n.3113A>G n.3321A>G c.2530A>G (p.Thr844Ala) c.1555A>G (p.Thr519Ala) c.2269A>G (p.Thr757Ala) c.3247A>G (p.Thr1083Ala) n.3065A>G n.3273A>G
1	g.197434975A>T	CA344045683	CRB1	c.3112A>T (p.Thr1038Ser) c.1993A>T (p.Thr665Ser) c.1255A>T (p.Thr419Ser) c.2776A>T (p.Thr926Ser) c.3040A>T (p.Thr1014Ser) c.2129-625A>T (n.2129-625A>T) n.3113A>T n.3321A>T c.2530A>T (p.Thr844Ser) c.1555A>T (p.Thr519Ser) c.2269A>T (p.Thr757Ser) c.3247A>T (p.Thr1083Ser) n.3065A>T n.3273A>T
1	g.197434975_197434976dup	CA2580061934	CRB1	c.3112_3113dup (p.Leu1039ProfsTer4) c.1993_1994dup (p.Leu666ProfsTer4) c.1255_1256dup (p.Leu420ProfsTer4) c.2776_2777dup (p.Leu927ProfsTer4) c.3040_3041dup (p.Leu1015ProfsTer4) c.2129-625_2129-624dup (n.2129-625_2129-624dup) n.3113_3114dup n.3321_3322dup c.2530_2531dup (p.Leu845ProfsTer4) c.1555_1556dup (p.Leu520ProfsTer4) c.2269_2270dup (p.Leu758ProfsTer4) c.3247_3248dup (p.Leu1084ProfsTer4) n.3065_3066dup n.3273_3274dup	ClinVar gnomAD v4
1	g.197434976C>A	CA344045689	CRB1	c.3113C>A (p.Thr1038Asn) c.1994C>A (p.Thr665Asn) c.1256C>A (p.Thr419Asn) c.2777C>A (p.Thr926Asn) c.3041C>A (p.Thr1014Asn) c.2129-624C>A (n.2129-624C>A) n.3114C>A n.3322C>A c.2531C>A (p.Thr844Asn) c.1556C>A (p.Thr519Asn) c.2270C>A (p.Thr757Asn) c.3248C>A (p.Thr1083Asn) n.3066C>A n.3274C>A
1	g.197434976C>G	CA344045691	CRB1	c.3113C>G (p.Thr1038Ser) c.1994C>G (p.Thr665Ser) c.1256C>G (p.Thr419Ser) c.2777C>G (p.Thr926Ser) c.3041C>G (p.Thr1014Ser) c.2129-624C>G (n.2129-624C>G) n.3114C>G n.3322C>G c.2531C>G (p.Thr844Ser) c.1556C>G (p.Thr519Ser) c.2270C>G (p.Thr757Ser) c.3248C>G (p.Thr1083Ser) n.3066C>G n.3274C>G	gnomAD v4
1	g.197434976C>T	CA344045693	CRB1	c.3113C>T (p.Thr1038Ile) c.1994C>T (p.Thr665Ile) c.1256C>T (p.Thr419Ile) c.2777C>T (p.Thr926Ile) c.3041C>T (p.Thr1014Ile) c.2129-624C>T (n.2129-624C>T) n.3114C>T n.3322C>T c.2531C>T (p.Thr844Ile) c.1556C>T (p.Thr519Ile) c.2270C>T (p.Thr757Ile) c.3248C>T (p.Thr1083Ile) n.3066C>T n.3274C>T	COSMIC COSMIC
1	g.197434977C>A	CA422808820	CRB1	c.3114C>A (p.Thr1038=) c.1995C>A (p.Thr665=) c.1257C>A (p.Thr419=) c.2778C>A (p.Thr926=) c.3042C>A (p.Thr1014=) c.2129-623C>A (n.2129-623C>A) n.3115C>A n.3323C>A c.2532C>A (p.Thr844=) c.1557C>A (p.Thr519=) c.2271C>A (p.Thr757=) c.3249C>A (p.Thr1083=) n.3067C>A n.3275C>A	gnomAD v4
1	g.197434977C=	CA1218068742	CRB1	c.3114C= (p.Thr1038=) c.1995C= (p.Thr665=) c.1257C= (p.Thr419=) c.2778C= (p.Thr926=) c.3042C= (p.Thr1014=) c.2129-623C= (n.2129-623C=) n.3115C= n.3323C= c.2532C= (p.Thr844=) c.1557C= (p.Thr519=) c.2271C= (p.Thr757=) c.3249C= (p.Thr1083=) n.3067C= n.3275C=
1	g.197434977C>G	CA422808821	CRB1	c.3114C>G (p.Thr1038=) c.1995C>G (p.Thr665=) c.1257C>G (p.Thr419=) c.2778C>G (p.Thr926=) c.3042C>G (p.Thr1014=) c.2129-623C>G (n.2129-623C>G) n.3115C>G n.3323C>G c.2532C>G (p.Thr844=) c.1557C>G (p.Thr519=) c.2271C>G (p.Thr757=) c.3249C>G (p.Thr1083=) n.3067C>G n.3275C>G
1	g.197434977C>T	CA422808822	CRB1	c.3114C>T (p.Thr1038=) c.1995C>T (p.Thr665=) c.1257C>T (p.Thr419=) c.2778C>T (p.Thr926=) c.3042C>T (p.Thr1014=) c.2129-623C>T (n.2129-623C>T) n.3115C>T n.3323C>T c.2532C>T (p.Thr844=) c.1557C>T (p.Thr519=) c.2271C>T (p.Thr757=) c.3249C>T (p.Thr1083=) n.3067C>T n.3275C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
1	g.197434978C>A	CA344045708	CRB1	c.3115C>A (p.Leu1039Ile) c.1996C>A (p.Leu666Ile) c.1258C>A (p.Leu420Ile) c.2779C>A (p.Leu927Ile) c.3043C>A (p.Leu1015Ile) c.2129-622C>A (n.2129-622C>A) n.3116C>A n.3324C>A c.2533C>A (p.Leu845Ile) c.1558C>A (p.Leu520Ile) c.2272C>A (p.Leu758Ile) c.3250C>A (p.Leu1084Ile) n.3068C>A n.3276C>A
1	g.197434978C=	CA1218068743	CRB1	c.3115C= (p.Leu1039=) c.1996C= (p.Leu666=) c.1258C= (p.Leu420=) c.2779C= (p.Leu927=) c.3043C= (p.Leu1015=) c.2129-622C= (n.2129-622C=) n.3116C= n.3324C= c.2533C= (p.Leu845=) c.1558C= (p.Leu520=) c.2272C= (p.Leu758=) c.3250C= (p.Leu1084=) n.3068C= n.3276C=
1	g.197434978C>G	CA1312279	CRB1	c.3115C>G (p.Leu1039Val) c.1996C>G (p.Leu666Val) c.1258C>G (p.Leu420Val) c.2779C>G (p.Leu927Val) c.3043C>G (p.Leu1015Val) c.2129-622C>G (n.2129-622C>G) n.3116C>G n.3324C>G c.2533C>G (p.Leu845Val) c.1558C>G (p.Leu520Val) c.2272C>G (p.Leu758Val) c.3250C>G (p.Leu1084Val) n.3068C>G n.3276C>G	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.197434978C>T	CA344045704	CRB1	c.3115C>T (p.Leu1039Phe) c.1996C>T (p.Leu666Phe) c.1258C>T (p.Leu420Phe) c.2779C>T (p.Leu927Phe) c.3043C>T (p.Leu1015Phe) c.2129-622C>T (n.2129-622C>T) n.3116C>T n.3324C>T c.2533C>T (p.Leu845Phe) c.1558C>T (p.Leu520Phe) c.2272C>T (p.Leu758Phe) c.3250C>T (p.Leu1084Phe) n.3068C>T n.3276C>T
1	g.197434979T>A	CA344045712	CRB1	c.3116T>A (p.Leu1039His) c.1997T>A (p.Leu666His) c.1259T>A (p.Leu420His) c.2780T>A (p.Leu927His) c.3044T>A (p.Leu1015His) c.2129-621T>A (n.2129-621T>A) n.3117T>A n.3325T>A c.2534T>A (p.Leu845His) c.1559T>A (p.Leu520His) c.2273T>A (p.Leu758His) c.3251T>A (p.Leu1084His) n.3069T>A n.3277T>A
1	g.197434979T>C	CA344045717	CRB1	c.3116T>C (p.Leu1039Pro) c.1997T>C (p.Leu666Pro) c.1259T>C (p.Leu420Pro) c.2780T>C (p.Leu927Pro) c.3044T>C (p.Leu1015Pro) c.2129-621T>C (n.2129-621T>C) n.3117T>C n.3325T>C c.2534T>C (p.Leu845Pro) c.1559T>C (p.Leu520Pro) c.2273T>C (p.Leu758Pro) c.3251T>C (p.Leu1084Pro) n.3069T>C n.3277T>C
1	g.197434979T>G	CA344045721	CRB1	c.3116T>G (p.Leu1039Arg) c.1997T>G (p.Leu666Arg) c.1259T>G (p.Leu420Arg) c.2780T>G (p.Leu927Arg) c.3044T>G (p.Leu1015Arg) c.2129-621T>G (n.2129-621T>G) n.3117T>G n.3325T>G c.2534T>G (p.Leu845Arg) c.1559T>G (p.Leu520Arg) c.2273T>G (p.Leu758Arg) c.3251T>G (p.Leu1084Arg) n.3069T>G n.3277T>G
1	g.197434981del	CA422808827	CRB1	c.3118del (p.Ser1040ProfsTer2) c.1999del (p.Ser667ProfsTer2) c.1261del (p.Ser421ProfsTer2) c.2782del (p.Ser928ProfsTer2) c.3046del (p.Ser1016ProfsTer2) c.2129-619del (n.2129-619del) n.3119del n.3327del c.2536del (p.Ser846ProfsTer2) c.1561del (p.Ser521ProfsTer2) c.2275del (p.Ser759ProfsTer2) c.3253del (p.Ser1085ProfsTer2) n.3071del n.3279del	COSMIC
1	g.197434980T>A	CA422808829	CRB1	c.3117T>A (p.Leu1039=) c.1998T>A (p.Leu666=) c.1260T>A (p.Leu420=) c.2781T>A (p.Leu927=) c.3045T>A (p.Leu1015=) c.2129-620T>A (n.2129-620T>A) n.3118T>A n.3326T>A c.2535T>A (p.Leu845=) c.1560T>A (p.Leu520=) c.2274T>A (p.Leu758=) c.3252T>A (p.Leu1084=) n.3070T>A n.3278T>A	COSMIC COSMIC
1	g.197434980T>C	CA422808831	CRB1	c.3117T>C (p.Leu1039=) c.1998T>C (p.Leu666=) c.1260T>C (p.Leu420=) c.2781T>C (p.Leu927=) c.3045T>C (p.Leu1015=) c.2129-620T>C (n.2129-620T>C) n.3118T>C n.3326T>C c.2535T>C (p.Leu845=) c.1560T>C (p.Leu520=) c.2274T>C (p.Leu758=) c.3252T>C (p.Leu1084=) n.3070T>C n.3278T>C
1	g.197434980T>G	CA422808832	CRB1	c.3117T>G (p.Leu1039=) c.1998T>G (p.Leu666=) c.1260T>G (p.Leu420=) c.2781T>G (p.Leu927=) c.3045T>G (p.Leu1015=) c.2129-620T>G (n.2129-620T>G) n.3118T>G n.3326T>G c.2535T>G (p.Leu845=) c.1560T>G (p.Leu520=) c.2274T>G (p.Leu758=) c.3252T>G (p.Leu1084=) n.3070T>G n.3278T>G
1	g.197434981T>A	CA344045727	CRB1	c.3118T>A (p.Ser1040Thr) c.1999T>A (p.Ser667Thr) c.1261T>A (p.Ser421Thr) c.2782T>A (p.Ser928Thr) c.3046T>A (p.Ser1016Thr) c.2129-619T>A (n.2129-619T>A) n.3119T>A n.3327T>A c.2536T>A (p.Ser846Thr) c.1561T>A (p.Ser521Thr) c.2275T>A (p.Ser759Thr) c.3253T>A (p.Ser1085Thr) n.3071T>A n.3279T>A	dbSNP gnomAD v2 gnomAD v4
1	g.197434981T>C	CA344045732	CRB1	c.3118T>C (p.Ser1040Pro) c.1999T>C (p.Ser667Pro) c.1261T>C (p.Ser421Pro) c.2782T>C (p.Ser928Pro) c.3046T>C (p.Ser1016Pro) c.2129-619T>C (n.2129-619T>C) n.3119T>C n.3327T>C c.2536T>C (p.Ser846Pro) c.1561T>C (p.Ser521Pro) c.2275T>C (p.Ser759Pro) c.3253T>C (p.Ser1085Pro) n.3071T>C n.3279T>C
1	g.197434981T>G	CA344045735	CRB1	c.3118T>G (p.Ser1040Ala) c.1999T>G (p.Ser667Ala) c.1261T>G (p.Ser421Ala) c.2782T>G (p.Ser928Ala) c.3046T>G (p.Ser1016Ala) c.2129-619T>G (n.2129-619T>G) n.3119T>G n.3327T>G c.2536T>G (p.Ser846Ala) c.1561T>G (p.Ser521Ala) c.2275T>G (p.Ser759Ala) c.3253T>G (p.Ser1085Ala) n.3071T>G n.3279T>G
1	g.197434981T=	CA1218068744	CRB1	c.3118T= (p.Ser1040=) c.1999T= (p.Ser667=) c.1261T= (p.Ser421=) c.2782T= (p.Ser928=) c.3046T= (p.Ser1016=) c.2129-619T= (n.2129-619T=) n.3119T= n.3327T= c.2536T= (p.Ser846=) c.1561T= (p.Ser521=) c.2275T= (p.Ser759=) c.3253T= (p.Ser1085=) n.3071T= n.3279T=
1	g.197434982C>A	CA344045743	CRB1	c.3119C>A (p.Ser1040Tyr) c.2000C>A (p.Ser667Tyr) c.1262C>A (p.Ser421Tyr) c.2783C>A (p.Ser928Tyr) c.3047C>A (p.Ser1016Tyr) c.2129-618C>A (n.2129-618C>A) n.3120C>A n.3328C>A c.2537C>A (p.Ser846Tyr) c.1562C>A (p.Ser521Tyr) c.2276C>A (p.Ser759Tyr) c.3254C>A (p.Ser1085Tyr) n.3072C>A n.3280C>A
1	g.197434982C=	CA1218068745	CRB1	c.3119C= (p.Ser1040=) c.2000C= (p.Ser667=) c.1262C= (p.Ser421=) c.2783C= (p.Ser928=) c.3047C= (p.Ser1016=) c.2129-618C= (n.2129-618C=) n.3120C= n.3328C= c.2537C= (p.Ser846=) c.1562C= (p.Ser521=) c.2276C= (p.Ser759=) c.3254C= (p.Ser1085=) n.3072C= n.3280C=
1	g.197434982C>G	CA344045747	CRB1	c.3119C>G (p.Ser1040Cys) c.2000C>G (p.Ser667Cys) c.1262C>G (p.Ser421Cys) c.2783C>G (p.Ser928Cys) c.3047C>G (p.Ser1016Cys) c.2129-618C>G (n.2129-618C>G) n.3120C>G n.3328C>G c.2537C>G (p.Ser846Cys) c.1562C>G (p.Ser521Cys) c.2276C>G (p.Ser759Cys) c.3254C>G (p.Ser1085Cys) n.3072C>G n.3280C>G
1	g.197434982C>T	CA344045751	CRB1	c.3119C>T (p.Ser1040Phe) c.2000C>T (p.Ser667Phe) c.1262C>T (p.Ser421Phe) c.2783C>T (p.Ser928Phe) c.3047C>T (p.Ser1016Phe) c.2129-618C>T (n.2129-618C>T) n.3120C>T n.3328C>T c.2537C>T (p.Ser846Phe) c.1562C>T (p.Ser521Phe) c.2276C>T (p.Ser759Phe) c.3254C>T (p.Ser1085Phe) n.3072C>T n.3280C>T	dbSNP gnomAD v4 COSMIC
1	g.197434983C>A	CA422808835	CRB1	c.3120C>A (p.Ser1040=) c.2001C>A (p.Ser667=) c.1263C>A (p.Ser421=) c.2784C>A (p.Ser928=) c.3048C>A (p.Ser1016=) c.2129-617C>A (n.2129-617C>A) n.3121C>A n.3329C>A c.2538C>A (p.Ser846=) c.1563C>A (p.Ser521=) c.2277C>A (p.Ser759=) c.3255C>A (p.Ser1085=) n.3073C>A n.3281C>A
1	g.197434983C=	CA1218068746	CRB1	c.3120C= (p.Ser1040=) c.2001C= (p.Ser667=) c.1263C= (p.Ser421=) c.2784C= (p.Ser928=) c.3048C= (p.Ser1016=) c.2129-617C= (n.2129-617C=) n.3121C= n.3329C= c.2538C= (p.Ser846=) c.1563C= (p.Ser521=) c.2277C= (p.Ser759=) c.3255C= (p.Ser1085=) n.3073C= n.3281C=
1	g.197434983C>G	CA422808836	CRB1	c.3120C>G (p.Ser1040=) c.2001C>G (p.Ser667=) c.1263C>G (p.Ser421=) c.2784C>G (p.Ser928=) c.3048C>G (p.Ser1016=) c.2129-617C>G (n.2129-617C>G) n.3121C>G n.3329C>G c.2538C>G (p.Ser846=) c.1563C>G (p.Ser521=) c.2277C>G (p.Ser759=) c.3255C>G (p.Ser1085=) n.3073C>G n.3281C>G
1	g.197434983C>T	CA422808837	CRB1	c.3120C>T (p.Ser1040=) c.2001C>T (p.Ser667=) c.1263C>T (p.Ser421=) c.2784C>T (p.Ser928=) c.3048C>T (p.Ser1016=) c.2129-617C>T (n.2129-617C>T) n.3121C>T n.3329C>T c.2538C>T (p.Ser846=) c.1563C>T (p.Ser521=) c.2277C>T (p.Ser759=) c.3255C>T (p.Ser1085=) n.3073C>T n.3281C>T	ClinVar dbSNP
1	g.197434984A=	CA1218068747	CRB1	c.3121A= (p.Met1041=) c.2002A= (p.Met668=) c.1264A= (p.Met422=) c.2785A= (p.Met929=) c.3049A= (p.Met1017=) c.2129-616A= (n.2129-616A=) n.3122A= n.3330A= c.2539A= (p.Met847=) c.1564A= (p.Met522=) c.2278A= (p.Met760=) c.3256A= (p.Met1086=) n.3074A= n.3282A=
1	g.197434984A>C	CA344045758	CRB1	c.3121A>C (p.Met1041Leu) c.2002A>C (p.Met668Leu) c.1264A>C (p.Met422Leu) c.2785A>C (p.Met929Leu) c.3049A>C (p.Met1017Leu) c.2129-616A>C (n.2129-616A>C) n.3122A>C n.3330A>C c.2539A>C (p.Met847Leu) c.1564A>C (p.Met522Leu) c.2278A>C (p.Met760Leu) c.3256A>C (p.Met1086Leu) n.3074A>C n.3282A>C
1	g.197434984A>G	CA1312280	CRB1	c.3121A>G (p.Met1041Val) c.2002A>G (p.Met668Val) c.1264A>G (p.Met422Val) c.2785A>G (p.Met929Val) c.3049A>G (p.Met1017Val) c.2129-616A>G (n.2129-616A>G) n.3122A>G n.3330A>G c.2539A>G (p.Met847Val) c.1564A>G (p.Met522Val) c.2278A>G (p.Met760Val) c.3256A>G (p.Met1086Val) n.3074A>G n.3282A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1	g.197434984A>T	CA344045766	CRB1	c.3121A>T (p.Met1041Leu) c.2002A>T (p.Met668Leu) c.1264A>T (p.Met422Leu) c.2785A>T (p.Met929Leu) c.3049A>T (p.Met1017Leu) c.2129-616A>T (n.2129-616A>T) n.3122A>T n.3330A>T c.2539A>T (p.Met847Leu) c.1564A>T (p.Met522Leu) c.2278A>T (p.Met760Leu) c.3256A>T (p.Met1086Leu) n.3074A>T n.3282A>T
1	g.197434985T>A	CA344045781	CRB1	c.3122T>A (p.Met1041Lys) c.2003T>A (p.Met668Lys) c.1265T>A (p.Met422Lys) c.2786T>A (p.Met929Lys) c.3050T>A (p.Met1017Lys) c.2129-615T>A (n.2129-615T>A) n.3123T>A n.3331T>A c.2540T>A (p.Met847Lys) c.1565T>A (p.Met522Lys) c.2279T>A (p.Met760Lys) c.3257T>A (p.Met1086Lys) n.3075T>A n.3283T>A
1	g.197434985T>C	CA228031	CRB1	c.3122T>C (p.Met1041Thr) c.2003T>C (p.Met668Thr) c.1265T>C (p.Met422Thr) c.2786T>C (p.Met929Thr) c.3050T>C (p.Met1017Thr) c.2129-615T>C (n.2129-615T>C) n.3123T>C n.3331T>C c.2540T>C (p.Met847Thr) c.1565T>C (p.Met522Thr) c.2279T>C (p.Met760Thr) c.3257T>C (p.Met1086Thr) n.3075T>C n.3283T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.197434985T>G	CA344045775	CRB1	c.3122T>G (p.Met1041Arg) c.2003T>G (p.Met668Arg) c.1265T>G (p.Met422Arg) c.2786T>G (p.Met929Arg) c.3050T>G (p.Met1017Arg) c.2129-615T>G (n.2129-615T>G) n.3123T>G n.3331T>G c.2540T>G (p.Met847Arg) c.1565T>G (p.Met522Arg) c.2279T>G (p.Met760Arg) c.3257T>G (p.Met1086Arg) n.3075T>G n.3283T>G
1	g.197434985T=	CA1140762960	CRB1	c.3122T= (p.Met1041=) c.2003T= (p.Met668=) c.1265T= (p.Met422=) c.2786T= (p.Met929=) c.3050T= (p.Met1017=) c.2129-615T= (n.2129-615T=) n.3123T= n.3331T= c.2540T= (p.Met847=) c.1565T= (p.Met522=) c.2279T= (p.Met760=) c.3257T= (p.Met1086=) n.3075T= n.3283T=
1	g.197434986G>A	CA344045791	CRB1	c.3123G>A (p.Met1041Ile) c.2004G>A (p.Met668Ile) c.1266G>A (p.Met422Ile) c.2787G>A (p.Met929Ile) c.3051G>A (p.Met1017Ile) c.2129-614G>A (n.2129-614G>A) n.3124G>A n.3332G>A c.2541G>A (p.Met847Ile) c.1566G>A (p.Met522Ile) c.2280G>A (p.Met760Ile) c.3258G>A (p.Met1086Ile) n.3076G>A n.3284G>A
1	g.197434986G>C	CA344045784	CRB1	c.3123G>C (p.Met1041Ile) c.2004G>C (p.Met668Ile) c.1266G>C (p.Met422Ile) c.2787G>C (p.Met929Ile) c.3051G>C (p.Met1017Ile) c.2129-614G>C (n.2129-614G>C) n.3124G>C n.3332G>C c.2541G>C (p.Met847Ile) c.1566G>C (p.Met522Ile) c.2280G>C (p.Met760Ile) c.3258G>C (p.Met1086Ile) n.3076G>C n.3284G>C
1	g.197434986G=	CA1218068748	CRB1	c.3123G= (p.Met1041=) c.2004G= (p.Met668=) c.1266G= (p.Met422=) c.2787G= (p.Met929=) c.3051G= (p.Met1017=) c.2129-614G= (n.2129-614G=) n.3124G= n.3332G= c.2541G= (p.Met847=) c.1566G= (p.Met522=) c.2280G= (p.Met760=) c.3258G= (p.Met1086=) n.3076G= n.3284G=
1	g.197434986G>T	CA344045788	CRB1	c.3123G>T (p.Met1041Ile) c.2004G>T (p.Met668Ile) c.1266G>T (p.Met422Ile) c.2787G>T (p.Met929Ile) c.3051G>T (p.Met1017Ile) c.2129-614G>T (n.2129-614G>T) n.3124G>T n.3332G>T c.2541G>T (p.Met847Ile) c.1566G>T (p.Met522Ile) c.2280G>T (p.Met760Ile) c.3258G>T (p.Met1086Ile) n.3076G>T n.3284G>T	dbSNP gnomAD v3 gnomAD v4
1	g.197434987A=	CA1218068749	CRB1	c.3124A= (p.Thr1042=) c.2005A= (p.Thr669=) c.1267A= (p.Thr423=) c.2788A= (p.Thr930=) c.3052A= (p.Thr1018=) c.2129-613A= (n.2129-613A=) n.3125A= n.3333A= c.2542A= (p.Thr848=) c.1567A= (p.Thr523=) c.2281A= (p.Thr761=) c.3259A= (p.Thr1087=) n.3077A= n.3285A=
1	g.197434987A>C	CA344045795	CRB1	c.3124A>C (p.Thr1042Pro) c.2005A>C (p.Thr669Pro) c.1267A>C (p.Thr423Pro) c.2788A>C (p.Thr930Pro) c.3052A>C (p.Thr1018Pro) c.2129-613A>C (n.2129-613A>C) n.3125A>C n.3333A>C c.2542A>C (p.Thr848Pro) c.1567A>C (p.Thr523Pro) c.2281A>C (p.Thr761Pro) c.3259A>C (p.Thr1087Pro) n.3077A>C n.3285A>C
1	g.197434987A>G	CA344045798	CRB1	c.3124A>G (p.Thr1042Ala) c.2005A>G (p.Thr669Ala) c.1267A>G (p.Thr423Ala) c.2788A>G (p.Thr930Ala) c.3052A>G (p.Thr1018Ala) c.2129-613A>G (n.2129-613A>G) n.3125A>G n.3333A>G c.2542A>G (p.Thr848Ala) c.1567A>G (p.Thr523Ala) c.2281A>G (p.Thr761Ala) c.3259A>G (p.Thr1087Ala) n.3077A>G n.3285A>G	dbSNP gnomAD v3 gnomAD v4
1	g.197434987A>T	CA344045799	CRB1	c.3124A>T (p.Thr1042Ser) c.2005A>T (p.Thr669Ser) c.1267A>T (p.Thr423Ser) c.2788A>T (p.Thr930Ser) c.3052A>T (p.Thr1018Ser) c.2129-613A>T (n.2129-613A>T) n.3125A>T n.3333A>T c.2542A>T (p.Thr848Ser) c.1567A>T (p.Thr523Ser) c.2281A>T (p.Thr761Ser) c.3259A>T (p.Thr1087Ser) n.3077A>T n.3285A>T
1	g.197434988C>A	CA344045800	CRB1	c.3125C>A (p.Thr1042Lys) c.2006C>A (p.Thr669Lys) c.1268C>A (p.Thr423Lys) c.2789C>A (p.Thr930Lys) c.3053C>A (p.Thr1018Lys) c.2129-612C>A (n.2129-612C>A) n.3126C>A n.3334C>A c.2543C>A (p.Thr848Lys) c.1568C>A (p.Thr523Lys) c.2282C>A (p.Thr761Lys) c.3260C>A (p.Thr1087Lys) n.3078C>A n.3286C>A
1	g.197434988C>G	CA344045801	CRB1	c.3125C>G (p.Thr1042Arg) c.2006C>G (p.Thr669Arg) c.1268C>G (p.Thr423Arg) c.2789C>G (p.Thr930Arg) c.3053C>G (p.Thr1018Arg) c.2129-612C>G (n.2129-612C>G) n.3126C>G n.3334C>G c.2543C>G (p.Thr848Arg) c.1568C>G (p.Thr523Arg) c.2282C>G (p.Thr761Arg) c.3260C>G (p.Thr1087Arg) n.3078C>G n.3286C>G
1	g.197434988C>T	CA344045803	CRB1	c.3125C>T (p.Thr1042Ile) c.2006C>T (p.Thr669Ile) c.1268C>T (p.Thr423Ile) c.2789C>T (p.Thr930Ile) c.3053C>T (p.Thr1018Ile) c.2129-612C>T (n.2129-612C>T) n.3126C>T n.3334C>T c.2543C>T (p.Thr848Ile) c.1568C>T (p.Thr523Ile) c.2282C>T (p.Thr761Ile) c.3260C>T (p.Thr1087Ile) n.3078C>T n.3286C>T	gnomAD v4
1	g.197434989A>C	CA422808850	CRB1	c.3126A>C (p.Thr1042=) c.2007A>C (p.Thr669=) c.1269A>C (p.Thr423=) c.2790A>C (p.Thr930=) c.3054A>C (p.Thr1018=) c.2129-611A>C (n.2129-611A>C) n.3127A>C n.3335A>C c.2544A>C (p.Thr848=) c.1569A>C (p.Thr523=) c.2283A>C (p.Thr761=) c.3261A>C (p.Thr1087=) n.3079A>C n.3287A>C
1	g.197434989A>G	CA422808852	CRB1	c.3126A>G (p.Thr1042=) c.2007A>G (p.Thr669=) c.1269A>G (p.Thr423=) c.2790A>G (p.Thr930=) c.3054A>G (p.Thr1018=) c.2129-611A>G (n.2129-611A>G) n.3127A>G n.3335A>G c.2544A>G (p.Thr848=) c.1569A>G (p.Thr523=) c.2283A>G (p.Thr761=) c.3261A>G (p.Thr1087=) n.3079A>G n.3287A>G
1	g.197434989A>T	CA422808853	CRB1	c.3126A>T (p.Thr1042=) c.2007A>T (p.Thr669=) c.1269A>T (p.Thr423=) c.2790A>T (p.Thr930=) c.3054A>T (p.Thr1018=) c.2129-611A>T (n.2129-611A>T) n.3127A>T n.3335A>T c.2544A>T (p.Thr848=) c.1569A>T (p.Thr523=) c.2283A>T (p.Thr761=) c.3261A>T (p.Thr1087=) n.3079A>T n.3287A>T
1	g.197434990G>A	CA344045807	CRB1	c.3127G>A (p.Asp1043Asn) c.2008G>A (p.Asp670Asn) c.1270G>A (p.Asp424Asn) c.2791G>A (p.Asp931Asn) c.3055G>A (p.Asp1019Asn) c.2129-610G>A (n.2129-610G>A) n.3128G>A n.3336G>A c.2545G>A (p.Asp849Asn) c.1570G>A (p.Asp524Asn) c.2284G>A (p.Asp762Asn) c.3262G>A (p.Asp1088Asn) n.3080G>A n.3288G>A	COSMIC COSMIC
1	g.197434990G>C	CA344045812	CRB1	c.3127G>C (p.Asp1043His) c.2008G>C (p.Asp670His) c.1270G>C (p.Asp424His) c.2791G>C (p.Asp931His) c.3055G>C (p.Asp1019His) c.2129-610G>C (n.2129-610G>C) n.3128G>C n.3336G>C c.2545G>C (p.Asp849His) c.1570G>C (p.Asp524His) c.2284G>C (p.Asp762His) c.3262G>C (p.Asp1088His) n.3080G>C n.3288G>C
1	g.197434990G>T	CA344045813	CRB1	c.3127G>T (p.Asp1043Tyr) c.2008G>T (p.Asp670Tyr) c.1270G>T (p.Asp424Tyr) c.2791G>T (p.Asp931Tyr) c.3055G>T (p.Asp1019Tyr) c.2129-610G>T (n.2129-610G>T) n.3128G>T n.3336G>T c.2545G>T (p.Asp849Tyr) c.1570G>T (p.Asp524Tyr) c.2284G>T (p.Asp762Tyr) c.3262G>T (p.Asp1088Tyr) n.3080G>T n.3288G>T
1	g.197434991A=	CA1218068750	CRB1	c.3128A= (p.Asp1043=) c.2009A= (p.Asp670=) c.1271A= (p.Asp424=) c.2792A= (p.Asp931=) c.3056A= (p.Asp1019=) c.2129-609A= (n.2129-609A=) n.3129A= n.3337A= c.2546A= (p.Asp849=) c.1571A= (p.Asp524=) c.2285A= (p.Asp762=) c.3263A= (p.Asp1088=) n.3081A= n.3289A=
1	g.197434991A>C	CA344045818	CRB1	c.3128A>C (p.Asp1043Ala) c.2009A>C (p.Asp670Ala) c.1271A>C (p.Asp424Ala) c.2792A>C (p.Asp931Ala) c.3056A>C (p.Asp1019Ala) c.2129-609A>C (n.2129-609A>C) n.3129A>C n.3337A>C c.2546A>C (p.Asp849Ala) c.1571A>C (p.Asp524Ala) c.2285A>C (p.Asp762Ala) c.3263A>C (p.Asp1088Ala) n.3081A>C n.3289A>C
1	g.197434991A>G	CA344045823	CRB1	c.3128A>G (p.Asp1043Gly) c.2009A>G (p.Asp670Gly) c.1271A>G (p.Asp424Gly) c.2792A>G (p.Asp931Gly) c.3056A>G (p.Asp1019Gly) c.2129-609A>G (n.2129-609A>G) n.3129A>G n.3337A>G c.2546A>G (p.Asp849Gly) c.1571A>G (p.Asp524Gly) c.2285A>G (p.Asp762Gly) c.3263A>G (p.Asp1088Gly) n.3081A>G n.3289A>G	dbSNP gnomAD v2 gnomAD v4
1	g.197434991A>T	CA344045827	CRB1	c.3128A>T (p.Asp1043Val) c.2009A>T (p.Asp670Val) c.1271A>T (p.Asp424Val) c.2792A>T (p.Asp931Val) c.3056A>T (p.Asp1019Val) c.2129-609A>T (n.2129-609A>T) n.3129A>T n.3337A>T c.2546A>T (p.Asp849Val) c.1571A>T (p.Asp524Val) c.2285A>T (p.Asp762Val) c.3263A>T (p.Asp1088Val) n.3081A>T n.3289A>T
1	g.197434992C>A	CA344045832	CRB1	c.3129C>A (p.Asp1043Glu) c.2010C>A (p.Asp670Glu) c.1272C>A (p.Asp424Glu) c.2793C>A (p.Asp931Glu) c.3057C>A (p.Asp1019Glu) c.2129-608C>A (n.2129-608C>A) n.3130C>A n.3338C>A c.2547C>A (p.Asp849Glu) c.1572C>A (p.Asp524Glu) c.2286C>A (p.Asp762Glu) c.3264C>A (p.Asp1088Glu) n.3082C>A n.3290C>A
1	g.197434992C>G	CA344045838	CRB1	c.3129C>G (p.Asp1043Glu) c.2010C>G (p.Asp670Glu) c.1272C>G (p.Asp424Glu) c.2793C>G (p.Asp931Glu) c.3057C>G (p.Asp1019Glu) c.2129-608C>G (n.2129-608C>G) n.3130C>G n.3338C>G c.2547C>G (p.Asp849Glu) c.1572C>G (p.Asp524Glu) c.2286C>G (p.Asp762Glu) c.3264C>G (p.Asp1088Glu) n.3082C>G n.3290C>G
1	g.197434992C>T	CA422808860	CRB1	c.3129C>T (p.Asp1043=) c.2010C>T (p.Asp670=) c.1272C>T (p.Asp424=) c.2793C>T (p.Asp931=) c.3057C>T (p.Asp1019=) c.2129-608C>T (n.2129-608C>T) n.3130C>T n.3338C>T c.2547C>T (p.Asp849=) c.1572C>T (p.Asp524=) c.2286C>T (p.Asp762=) c.3264C>T (p.Asp1088=) n.3082C>T n.3290C>T
1	g.197434993C>A	CA1312281	CRB1	c.3130C>A (p.Pro1044Thr) c.2011C>A (p.Pro671Thr) c.1273C>A (p.Pro425Thr) c.2794C>A (p.Pro932Thr) c.3058C>A (p.Pro1020Thr) c.2129-607C>A (n.2129-607C>A) n.3131C>A n.3339C>A c.2548C>A (p.Pro850Thr) c.1573C>A (p.Pro525Thr) c.2287C>A (p.Pro763Thr) c.3265C>A (p.Pro1089Thr) n.3083C>A n.3291C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.197434993C=	CA1148306416	CRB1	c.3130C= (p.Pro1044=) c.2011C= (p.Pro671=) c.1273C= (p.Pro425=) c.2794C= (p.Pro932=) c.3058C= (p.Pro1020=) c.2129-607C= (n.2129-607C=) n.3131C= n.3339C= c.2548C= (p.Pro850=) c.1573C= (p.Pro525=) c.2287C= (p.Pro763=) c.3265C= (p.Pro1089=) n.3083C= n.3291C=
1	g.197434993C>G	CA344045848	CRB1	c.3130C>G (p.Pro1044Ala) c.2011C>G (p.Pro671Ala) c.1273C>G (p.Pro425Ala) c.2794C>G (p.Pro932Ala) c.3058C>G (p.Pro1020Ala) c.2129-607C>G (n.2129-607C>G) n.3131C>G n.3339C>G c.2548C>G (p.Pro850Ala) c.1573C>G (p.Pro525Ala) c.2287C>G (p.Pro763Ala) c.3265C>G (p.Pro1089Ala) n.3083C>G n.3291C>G
1	g.197434993C>T	CA344045852	CRB1	c.3130C>T (p.Pro1044Ser) c.2011C>T (p.Pro671Ser) c.1273C>T (p.Pro425Ser) c.2794C>T (p.Pro932Ser) c.3058C>T (p.Pro1020Ser) c.2129-607C>T (n.2129-607C>T) n.3131C>T n.3339C>T c.2548C>T (p.Pro850Ser) c.1573C>T (p.Pro525Ser) c.2287C>T (p.Pro763Ser) c.3265C>T (p.Pro1089Ser) n.3083C>T n.3291C>T
1	g.197434994C>A	CA344045857	CRB1	c.3131C>A (p.Pro1044Gln) c.2012C>A (p.Pro671Gln) c.1274C>A (p.Pro425Gln) c.2795C>A (p.Pro932Gln) c.3059C>A (p.Pro1020Gln) c.2129-606C>A (n.2129-606C>A) n.3132C>A n.3340C>A c.2549C>A (p.Pro850Gln) c.1574C>A (p.Pro525Gln) c.2288C>A (p.Pro763Gln) c.3266C>A (p.Pro1089Gln) n.3084C>A n.3292C>A
1	g.197434994C>G	CA344045861	CRB1	c.3131C>G (p.Pro1044Arg) c.2012C>G (p.Pro671Arg) c.1274C>G (p.Pro425Arg) c.2795C>G (p.Pro932Arg) c.3059C>G (p.Pro1020Arg) c.2129-606C>G (n.2129-606C>G) n.3132C>G n.3340C>G c.2549C>G (p.Pro850Arg) c.1574C>G (p.Pro525Arg) c.2288C>G (p.Pro763Arg) c.3266C>G (p.Pro1089Arg) n.3084C>G n.3292C>G
1	g.197434994C>T	CA344045864	CRB1	c.3131C>T (p.Pro1044Leu) c.2012C>T (p.Pro671Leu) c.1274C>T (p.Pro425Leu) c.2795C>T (p.Pro932Leu) c.3059C>T (p.Pro1020Leu) c.2129-606C>T (n.2129-606C>T) n.3132C>T n.3340C>T c.2549C>T (p.Pro850Leu) c.1574C>T (p.Pro525Leu) c.2288C>T (p.Pro763Leu) c.3266C>T (p.Pro1089Leu) n.3084C>T n.3292C>T
1	g.197434995A=	CA1218068751	CRB1	c.3132A= (p.Pro1044=) c.2013A= (p.Pro671=) c.1275A= (p.Pro425=) c.2796A= (p.Pro932=) c.3060A= (p.Pro1020=) c.2129-605A= (n.2129-605A=) n.3133A= n.3341A= c.2550A= (p.Pro850=) c.1575A= (p.Pro525=) c.2289A= (p.Pro763=) c.3267A= (p.Pro1089=) n.3085A= n.3293A=
1	g.197434995A>C	CA422808868	CRB1	c.3132A>C (p.Pro1044=) c.2013A>C (p.Pro671=) c.1275A>C (p.Pro425=) c.2796A>C (p.Pro932=) c.3060A>C (p.Pro1020=) c.2129-605A>C (n.2129-605A>C) n.3133A>C n.3341A>C c.2550A>C (p.Pro850=) c.1575A>C (p.Pro525=) c.2289A>C (p.Pro763=) c.3267A>C (p.Pro1089=) n.3085A>C n.3293A>C	gnomAD v4
1	g.197434995A>G	CA1312282	CRB1	c.3132A>G (p.Pro1044=) c.2013A>G (p.Pro671=) c.1275A>G (p.Pro425=) c.2796A>G (p.Pro932=) c.3060A>G (p.Pro1020=) c.2129-605A>G (n.2129-605A>G) n.3133A>G n.3341A>G c.2550A>G (p.Pro850=) c.1575A>G (p.Pro525=) c.2289A>G (p.Pro763=) c.3267A>G (p.Pro1089=) n.3085A>G n.3293A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1	g.197434995A>T	CA422808869	CRB1	c.3132A>T (p.Pro1044=) c.2013A>T (p.Pro671=) c.1275A>T (p.Pro425=) c.2796A>T (p.Pro932=) c.3060A>T (p.Pro1020=) c.2129-605A>T (n.2129-605A>T) n.3133A>T n.3341A>T c.2550A>T (p.Pro850=) c.1575A>T (p.Pro525=) c.2289A>T (p.Pro763=) c.3267A>T (p.Pro1089=) n.3085A>T n.3293A>T
1	g.197434995_197435008del	CA2649670640	CRB1	c.3132_3145del (p.Leu1045GlnfsTer28) c.2013_2026del (p.Leu672GlnfsTer28) c.1275_1288del (p.Leu426GlnfsTer28) c.2796_2809del (p.Leu933GlnfsTer28) c.3060_3073del (p.Leu1021GlnfsTer28) c.2129-605_2129-592del (n.2129-605_2129-592del) n.3133_3146del n.3341_3354del c.2550_2563del (p.Leu851GlnfsTer28) c.1575_1588del (p.Leu526GlnfsTer28) c.2289_2302del (p.Leu764GlnfsTer28) c.3267_3280del (p.Leu1090GlnfsTer28) n.3085_3098del n.3293_3306del	gnomAD v4
1	g.197434996C>A	CA344045868	CRB1	c.3133C>A (p.Leu1045Met) c.2014C>A (p.Leu672Met) c.1276C>A (p.Leu426Met) c.2797C>A (p.Leu933Met) c.3061C>A (p.Leu1021Met) c.2129-604C>A (n.2129-604C>A) n.3134C>A n.3342C>A c.2551C>A (p.Leu851Met) c.1576C>A (p.Leu526Met) c.2290C>A (p.Leu764Met) c.3268C>A (p.Leu1090Met) n.3086C>A n.3294C>A
1	g.197434996C>G	CA344045869	CRB1	c.3133C>G (p.Leu1045Val) c.2014C>G (p.Leu672Val) c.1276C>G (p.Leu426Val) c.2797C>G (p.Leu933Val) c.3061C>G (p.Leu1021Val) c.2129-604C>G (n.2129-604C>G) n.3134C>G n.3342C>G c.2551C>G (p.Leu851Val) c.1576C>G (p.Leu526Val) c.2290C>G (p.Leu764Val) c.3268C>G (p.Leu1090Val) n.3086C>G n.3294C>G
1	g.197434996C>T	CA422808871	CRB1	c.3133C>T (p.Leu1045=) c.2014C>T (p.Leu672=) c.1276C>T (p.Leu426=) c.2797C>T (p.Leu933=) c.3061C>T (p.Leu1021=) c.2129-604C>T (n.2129-604C>T) n.3134C>T n.3342C>T c.2551C>T (p.Leu851=) c.1576C>T (p.Leu526=) c.2290C>T (p.Leu764=) c.3268C>T (p.Leu1090=) n.3086C>T n.3294C>T
1	g.197434997del	CA2499214382	CRB1	c.3134del (p.Leu1045ArgfsTer18) c.2015del (p.Leu672ArgfsTer18) c.1277del (p.Leu426ArgfsTer18) c.2798del (p.Leu933ArgfsTer18) c.3062del (p.Leu1021ArgfsTer18) c.2129-603del (n.2129-603del) n.3135del n.3343del c.2552del (p.Leu851ArgfsTer18) c.1577del (p.Leu526ArgfsTer18) c.2291del (p.Leu764ArgfsTer18) c.3269del (p.Leu1090ArgfsTer18) n.3087del n.3295del	ClinVar dbSNP
1	g.197434997T>A	CA344045871	CRB1	c.3134T>A (p.Leu1045Gln) c.2015T>A (p.Leu672Gln) c.1277T>A (p.Leu426Gln) c.2798T>A (p.Leu933Gln) c.3062T>A (p.Leu1021Gln) c.2129-603T>A (n.2129-603T>A) n.3135T>A n.3343T>A c.2552T>A (p.Leu851Gln) c.1577T>A (p.Leu526Gln) c.2291T>A (p.Leu764Gln) c.3269T>A (p.Leu1090Gln) n.3087T>A n.3295T>A
1	g.197434997T>C	CA344045874	CRB1	c.3134T>C (p.Leu1045Pro) c.2015T>C (p.Leu672Pro) c.1277T>C (p.Leu426Pro) c.2798T>C (p.Leu933Pro) c.3062T>C (p.Leu1021Pro) c.2129-603T>C (n.2129-603T>C) n.3135T>C n.3343T>C c.2552T>C (p.Leu851Pro) c.1577T>C (p.Leu526Pro) c.2291T>C (p.Leu764Pro) c.3269T>C (p.Leu1090Pro) n.3087T>C n.3295T>C
1	g.197434997T>G	CA344045876	CRB1	c.3134T>G (p.Leu1045Arg) c.2015T>G (p.Leu672Arg) c.1277T>G (p.Leu426Arg) c.2798T>G (p.Leu933Arg) c.3062T>G (p.Leu1021Arg) c.2129-603T>G (n.2129-603T>G) n.3135T>G n.3343T>G c.2552T>G (p.Leu851Arg) c.1577T>G (p.Leu526Arg) c.2291T>G (p.Leu764Arg) c.3269T>G (p.Leu1090Arg) n.3087T>G n.3295T>G
1	g.197434998G>A	CA422808873	CRB1	c.3135G>A (p.Leu1045=) c.2016G>A (p.Leu672=) c.1278G>A (p.Leu426=) c.2799G>A (p.Leu933=) c.3063G>A (p.Leu1021=) c.2129-602G>A (n.2129-602G>A) n.3136G>A n.3344G>A c.2553G>A (p.Leu851=) c.1578G>A (p.Leu526=) c.2292G>A (p.Leu764=) c.3270G>A (p.Leu1090=) n.3088G>A n.3296G>A
1	g.197434998G>C	CA422808874	CRB1	c.3135G>C (p.Leu1045=) c.2016G>C (p.Leu672=) c.1278G>C (p.Leu426=) c.2799G>C (p.Leu933=) c.3063G>C (p.Leu1021=) c.2129-602G>C (n.2129-602G>C) n.3136G>C n.3344G>C c.2553G>C (p.Leu851=) c.1578G>C (p.Leu526=) c.2292G>C (p.Leu764=) c.3270G>C (p.Leu1090=) n.3088G>C n.3296G>C
1	g.197434998G>T	CA422808875	CRB1	c.3135G>T (p.Leu1045=) c.2016G>T (p.Leu672=) c.1278G>T (p.Leu426=) c.2799G>T (p.Leu933=) c.3063G>T (p.Leu1021=) c.2129-602G>T (n.2129-602G>T) n.3136G>T n.3344G>T c.2553G>T (p.Leu851=) c.1578G>T (p.Leu526=) c.2292G>T (p.Leu764=) c.3270G>T (p.Leu1090=) n.3088G>T n.3296G>T
1	g.197434999T>A	CA344045886	CRB1	c.3136T>A (p.Ser1046Thr) c.2017T>A (p.Ser673Thr) c.1279T>A (p.Ser427Thr) c.2800T>A (p.Ser934Thr) c.3064T>A (p.Ser1022Thr) c.2129-601T>A (n.2129-601T>A) n.3137T>A n.3345T>A c.2554T>A (p.Ser852Thr) c.1579T>A (p.Ser527Thr) c.2293T>A (p.Ser765Thr) c.3271T>A (p.Ser1091Thr) n.3089T>A n.3297T>A
1	g.197434999T>C	CA344045894	CRB1	c.3136T>C (p.Ser1046Pro) c.2017T>C (p.Ser673Pro) c.1279T>C (p.Ser427Pro) c.2800T>C (p.Ser934Pro) c.3064T>C (p.Ser1022Pro) c.2129-601T>C (n.2129-601T>C) n.3137T>C n.3345T>C c.2554T>C (p.Ser852Pro) c.1579T>C (p.Ser527Pro) c.2293T>C (p.Ser765Pro) c.3271T>C (p.Ser1091Pro) n.3089T>C n.3297T>C
1	g.197434999T>G	CA344045882	CRB1	c.3136T>G (p.Ser1046Ala) c.2017T>G (p.Ser673Ala) c.1279T>G (p.Ser427Ala) c.2800T>G (p.Ser934Ala) c.3064T>G (p.Ser1022Ala) c.2129-601T>G (n.2129-601T>G) n.3137T>G n.3345T>G c.2554T>G (p.Ser852Ala) c.1579T>G (p.Ser527Ala) c.2293T>G (p.Ser765Ala) c.3271T>G (p.Ser1091Ala) n.3089T>G n.3297T>G
1	g.197435000C>A	CA344045899	CRB1	c.3137C>A (p.Ser1046Tyr) c.2018C>A (p.Ser673Tyr) c.1280C>A (p.Ser427Tyr) c.2801C>A (p.Ser934Tyr) c.3065C>A (p.Ser1022Tyr) c.2129-600C>A (n.2129-600C>A) n.3138C>A n.3346C>A c.2555C>A (p.Ser852Tyr) c.1580C>A (p.Ser527Tyr) c.2294C>A (p.Ser765Tyr) c.3272C>A (p.Ser1091Tyr) n.3090C>A n.3298C>A
1	g.197435000C=	CA1218068752	CRB1	c.3137C= (p.Ser1046=) c.2018C= (p.Ser673=) c.1280C= (p.Ser427=) c.2801C= (p.Ser934=) c.3065C= (p.Ser1022=) c.2129-600C= (n.2129-600C=) n.3138C= n.3346C= c.2555C= (p.Ser852=) c.1580C= (p.Ser527=) c.2294C= (p.Ser765=) c.3272C= (p.Ser1091=) n.3090C= n.3298C=
1	g.197435000C>G	CA344045912	CRB1	c.3137C>G (p.Ser1046Cys) c.2018C>G (p.Ser673Cys) c.1280C>G (p.Ser427Cys) c.2801C>G (p.Ser934Cys) c.3065C>G (p.Ser1022Cys) c.2129-600C>G (n.2129-600C>G) n.3138C>G n.3346C>G c.2555C>G (p.Ser852Cys) c.1580C>G (p.Ser527Cys) c.2294C>G (p.Ser765Cys) c.3272C>G (p.Ser1091Cys) n.3090C>G n.3298C>G
1	g.197435000C>T	CA344045907	CRB1	c.3137C>T (p.Ser1046Phe) c.2018C>T (p.Ser673Phe) c.1280C>T (p.Ser427Phe) c.2801C>T (p.Ser934Phe) c.3065C>T (p.Ser1022Phe) c.2129-600C>T (n.2129-600C>T) n.3138C>T n.3346C>T c.2555C>T (p.Ser852Phe) c.1580C>T (p.Ser527Phe) c.2294C>T (p.Ser765Phe) c.3272C>T (p.Ser1091Phe) n.3090C>T n.3298C>T	ClinVar dbSNP
1	g.197435001C>A	CA422808878	CRB1	c.3138C>A (p.Ser1046=) c.2019C>A (p.Ser673=) c.1281C>A (p.Ser427=) c.2802C>A (p.Ser934=) c.3066C>A (p.Ser1022=) c.2129-599C>A (n.2129-599C>A) n.3139C>A n.3347C>A c.2556C>A (p.Ser852=) c.1581C>A (p.Ser527=) c.2295C>A (p.Ser765=) c.3273C>A (p.Ser1091=) n.3091C>A n.3299C>A
1	g.197435001C>G	CA422808879	CRB1	c.3138C>G (p.Ser1046=) c.2019C>G (p.Ser673=) c.1281C>G (p.Ser427=) c.2802C>G (p.Ser934=) c.3066C>G (p.Ser1022=) c.2129-599C>G (n.2129-599C>G) n.3139C>G n.3347C>G c.2556C>G (p.Ser852=) c.1581C>G (p.Ser527=) c.2295C>G (p.Ser765=) c.3273C>G (p.Ser1091=) n.3091C>G n.3299C>G
1	g.197435001C>T	CA422808880	CRB1	c.3138C>T (p.Ser1046=) c.2019C>T (p.Ser673=) c.1281C>T (p.Ser427=) c.2802C>T (p.Ser934=) c.3066C>T (p.Ser1022=) c.2129-599C>T (n.2129-599C>T) n.3139C>T n.3347C>T c.2556C>T (p.Ser852=) c.1581C>T (p.Ser527=) c.2295C>T (p.Ser765=) c.3273C>T (p.Ser1091=) n.3091C>T n.3299C>T
1	g.197435005_197435012del	CA2580061935	CRB1	c.3142_3149del (p.Thr1048ValfsTer27) c.2023_2030del (p.Thr675ValfsTer27) c.1285_1292del (p.Thr429ValfsTer27) c.2806_2813del (p.Thr936ValfsTer27) c.3070_3077del (p.Thr1024ValfsTer27) c.2129-595_2129-588del (n.2129-595_2129-588del) n.3143_3150del n.3351_3358del c.2560_2567del (p.Thr854ValfsTer27) c.1585_1592del (p.Thr529ValfsTer27) c.2299_2306del (p.Thr767ValfsTer27) c.3277_3284del (p.Thr1093ValfsTer27) n.3095_3102del n.3303_3310del	ClinVar
1	g.197435002C>A	CA344045919	CRB1	c.3139C>A (p.Gln1047Lys) c.2020C>A (p.Gln674Lys) c.1282C>A (p.Gln428Lys) c.2803C>A (p.Gln935Lys) c.3067C>A (p.Gln1023Lys) c.2129-598C>A (n.2129-598C>A) n.3140C>A n.3348C>A c.2557C>A (p.Gln853Lys) c.1582C>A (p.Gln528Lys) c.2296C>A (p.Gln766Lys) c.3274C>A (p.Gln1092Lys) n.3092C>A n.3300C>A	gnomAD v4
1	g.197435002C=	CA1218068753	CRB1	c.3139C= (p.Gln1047=) c.2020C= (p.Gln674=) c.1282C= (p.Gln428=) c.2803C= (p.Gln935=) c.3067C= (p.Gln1023=) c.2129-598C= (n.2129-598C=) n.3140C= n.3348C= c.2557C= (p.Gln853=) c.1582C= (p.Gln528=) c.2296C= (p.Gln766=) c.3274C= (p.Gln1092=) n.3092C= n.3300C=
1	g.197435002C>G	CA344045923	CRB1	c.3139C>G (p.Gln1047Glu) c.2020C>G (p.Gln674Glu) c.1282C>G (p.Gln428Glu) c.2803C>G (p.Gln935Glu) c.3067C>G (p.Gln1023Glu) c.2129-598C>G (n.2129-598C>G) n.3140C>G n.3348C>G c.2557C>G (p.Gln853Glu) c.1582C>G (p.Gln528Glu) c.2296C>G (p.Gln766Glu) c.3274C>G (p.Gln1092Glu) n.3092C>G n.3300C>G
1	g.197435002C>T	CA344045924	CRB1	c.3139C>T (p.Gln1047Ter) c.2020C>T (p.Gln674Ter) c.1282C>T (p.Gln428Ter) c.2803C>T (p.Gln935Ter) c.3067C>T (p.Gln1023Ter) c.2129-598C>T (n.2129-598C>T) n.3140C>T n.3348C>T c.2557C>T (p.Gln853Ter) c.1582C>T (p.Gln528Ter) c.2296C>T (p.Gln766Ter) c.3274C>T (p.Gln1092Ter) n.3092C>T n.3300C>T	dbSNP gnomAD v2
1	g.197435003A>C	CA344045925	CRB1	c.3140A>C (p.Gln1047Pro) c.2021A>C (p.Gln674Pro) c.1283A>C (p.Gln428Pro) c.2804A>C (p.Gln935Pro) c.3068A>C (p.Gln1023Pro) c.2129-597A>C (n.2129-597A>C) n.3141A>C n.3349A>C c.2558A>C (p.Gln853Pro) c.1583A>C (p.Gln528Pro) c.2297A>C (p.Gln766Pro) c.3275A>C (p.Gln1092Pro) n.3093A>C n.3301A>C
1	g.197435003A>G	CA344045929	CRB1	c.3140A>G (p.Gln1047Arg) c.2021A>G (p.Gln674Arg) c.1283A>G (p.Gln428Arg) c.2804A>G (p.Gln935Arg) c.3068A>G (p.Gln1023Arg) c.2129-597A>G (n.2129-597A>G) n.3141A>G n.3349A>G c.2558A>G (p.Gln853Arg) c.1583A>G (p.Gln528Arg) c.2297A>G (p.Gln766Arg) c.3275A>G (p.Gln1092Arg) n.3093A>G n.3301A>G
1	g.197435003A>T	CA344045944	CRB1	c.3140A>T (p.Gln1047Leu) c.2021A>T (p.Gln674Leu) c.1283A>T (p.Gln428Leu) c.2804A>T (p.Gln935Leu) c.3068A>T (p.Gln1023Leu) c.2129-597A>T (n.2129-597A>T) n.3141A>T n.3349A>T c.2558A>T (p.Gln853Leu) c.1583A>T (p.Gln528Leu) c.2297A>T (p.Gln766Leu) c.3275A>T (p.Gln1092Leu) n.3093A>T n.3301A>T

Number of alleles fetched