NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)
|
rs764256655
|
0.00006
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)
|
rs1409490389
|
0.00003
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)
|
rs763324776
|
0.00003
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)
|
rs768905244
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys)
|
rs1180527322
|
0.00001
|
NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys)
|
rs62645755
|
0.00001
|
NM_201253.3(CRB1):c.2159A>T (p.Asp720Val)
|
rs766989894
|
0.00001
|
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)
|
rs765676754
|
0.00001
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg)
|
rs767368951
|
0.00001
|
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)
|
rs1031415706
|
0.00001
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter)
|
rs1246546027
|
0.00001
|
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr)
|
rs752559648
|
0.00001
|
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)
|
rs1658691162
|
0.00001
|
NM_201253.3(CRB1):c.716G>C (p.Cys239Ser)
|
rs771079655
|
0.00001
|
NM_201253.3(CRB1):c.849-2A>G
|
rs988534225
|
0.00001
|
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)
|
rs778232235
|
0.00001
|
NC_000001.10:g.(?_197297542)_(197298143_?)del
|
|
|
NC_000001.10:g.(?_197313391)_(197411442_?)dup
|
|
|
NC_000001.10:g.(?_197325941)_(197326163_?)del
|
|
|
NC_000001.10:g.(?_197325951)_(197326153_?)del
|
|
|
NC_000001.10:g.(?_197446965)_(197449864_?)del
|
|
|
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)
|
|
|
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr)
|
rs886039871
|
|
NM_201253.3(CRB1):c.1055_1063del (p.Gly352_Cys354del)
|
|
|
NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)
|
|
|
NM_201253.3(CRB1):c.112del (p.Ser38fs)
|
rs62645750
|
|
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)
|
rs1660516364
|
|
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg)
|
rs1571897130
|
|
NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)
|
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1171+1G>A
|
|
|
NM_201253.3(CRB1):c.1172-1G>T
|
rs2125468776
|
|
NM_201253.3(CRB1):c.1172-2A>G
|
rs2125468772
|
|
NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)
|
|
|
NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter)
|
|
|
NM_201253.3(CRB1):c.1268del (p.Cys423fs)
|
|
|
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
|
|
|
NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)
|
|
|
NM_201253.3(CRB1):c.132dup (p.Cys45fs)
|
rs2125303667
|
|
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)
|
rs1664290387
|
|
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)
|
rs1664290387
|
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
|
|
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
|
|
|
NM_201253.3(CRB1):c.1426del (p.Thr476fs)
|
|
|
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)
|
rs866822473
|
|
NM_201253.3(CRB1):c.1430G>T (p.Gly477Val)
|
rs1277758473
|
|
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)
|
rs963201816
|
|
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)
|
rs780580887
|
|
NM_201253.3(CRB1):c.1499C>G (p.Ser500Ter)
|
|
|
NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu)
|
rs2125470125
|
|
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
|
rs1571524102
|
|
NM_201253.3(CRB1):c.1633delinsAA (p.Ser545fs)
|
|
|
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter)
|
rs768107603
|
|
NM_201253.3(CRB1):c.1665dup (p.Leu556fs)
|
|
|
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn)
|
rs757279881
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr)
|
rs1664322968
|
|
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)
|
rs1471328495
|
|
NM_201253.3(CRB1):c.1831del (p.Ser611fs)
|
rs2125471098
|
|
NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)
|
|
|
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)
|
rs768905244
|
|
NM_201253.3(CRB1):c.1901del (p.Pro634fs)
|
|
|
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala)
|
rs2125471502
|
|
NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)
|
|
|
NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg)
|
rs779069205
|
|
NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)
|
|
|
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val)
|
rs748175297
|
|
NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)
|
|
|
NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs)
|
|
|
NM_201253.3(CRB1):c.2128+1G>C
|
rs2125472205
|
|
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)
|
rs62645755
|
|
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe)
|
rs1664649015
|
|
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
|
rs62636267
|
|
NM_201253.3(CRB1):c.2223G>A (p.Met741Ile)
|
rs1664649489
|
|
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu)
|
rs863224862
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)
|
rs28939720
|
|
NM_201253.3(CRB1):c.2234C>G (p.Thr745Arg)
|
rs28939720
|
|
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del)
|
rs62635653
|
|
NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)
|
|
|
NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser)
|
rs2125483920
|
|
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)
|
rs2125483925
|
|
NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)
|
|
|
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
|
rs1433518605
|
|
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro)
|
rs1355198242
|
|
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro)
|
rs1664667136
|
|
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)
|
rs1664671663
|
|
NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys)
|
rs1664671663
|
|
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)
|
rs1085307972
|
|
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu)
|
rs772476137
|
|
NM_201253.3(CRB1):c.2540T>C (p.Phe847Ser)
|
rs758723407
|
|
NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)
|
|
|
NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp)
|
rs757137398
|
|
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala)
|
rs757137398
|
|
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs)
|
rs62636270
|
|
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)
|
rs1664678030
|
|
NM_201253.3(CRB1):c.2570_2574del (p.Leu857fs)
|
|
|
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg)
|
rs1664680011
|
|
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp)
|
rs1664683759
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys)
|
rs2125485441
|
|
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter)
|
rs759662695
|
|
NM_201253.3(CRB1):c.2676+1G>A
|
|
|
NM_201253.3(CRB1):c.2677-1G>T
|
|
|
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)
|
rs1571544334
|
|
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)
|
rs1571544334
|
|
NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)
|
|
|
NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)
|
|
|
NM_201253.3(CRB1):c.2704del (p.Cys902fs)
|
|
|
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter)
|
rs2125488868
|
|
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)
|
rs863223341
|
|
NM_201253.3(CRB1):c.2785_2787delinsTG (p.Gly929fs)
|
|
|
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr)
|
rs1558133731
|
|
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
|
|
|
NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg)
|
rs1664775504
|
|
NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)
|
|
|
NM_201253.3(CRB1):c.2832del (p.Gly945fs)
|
|
|
NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)
|
|
|
NM_201253.3(CRB1):c.2842+2T>C
|
rs2125489334
|
|
NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)
|
|
|
NM_201253.3(CRB1):c.2843-1G>T
|
rs878853368
|
|
NM_201253.3(CRB1):c.291del (p.Lys97fs)
|
rs2125303994
|
|
NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr)
|
rs2125498956
|
|
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)
|
rs2125499116
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)
|
rs62636274
|
|
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile)
|
rs62636274
|
|
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs)
|
rs1665066272
|
|
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)
|
|
|
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
|
|
|
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu)
|
rs1665071224
|
|
NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)
|
|
|
NM_201253.3(CRB1):c.3194del (p.Thr1065fs)
|
|
|
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val)
|
rs1665084413
|
|
NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter)
|
|
|
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)
|
rs62636276
|
|
NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)
|
|
|
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
|
|
|
NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs)
|
|
|
NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)
|
|
|
NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs)
|
|
|
NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)
|
|
|
NM_201253.3(CRB1):c.3749+1G>A
|
rs2125501295
|
|
NM_201253.3(CRB1):c.3749+1G>C
|
|
|
NM_201253.3(CRB1):c.3749+2_3749+3del
|
rs1665120314
|
|
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
|
|
|
NM_201253.3(CRB1):c.3847del (p.Cys1283fs)
|
|
|
NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg)
|
rs1665279918
|
|
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
|
|
|
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr)
|
rs1665280076
|
|
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)
|
rs2125506459
|
|
NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp)
|
rs533997742
|
|
NM_201253.3(CRB1):c.3878+1G>A
|
rs748927280
|
|
NM_201253.3(CRB1):c.3878+2dup
|
rs1665282720
|
|
NM_201253.3(CRB1):c.3884_3904del (p.Glu1295_Cys1301del)
|
rs2125513549
|
|
NM_201253.3(CRB1):c.3896del (p.Asp1299fs)
|
rs2125513602
|
|
NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)
|
|
|
NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)
|
|
|
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
|
|
|
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser)
|
rs62635649
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.3961del (p.Cys1321fs)
|
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp)
|
rs1665487563
|
|
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC
|
rs1665488161
|
|
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr)
|
rs1665489039
|
|
NM_201253.3(CRB1):c.4006-1G>C
|
rs752804194
|
|
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn)
|
rs1667260204
|
|
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp)
|
rs1667260968
|
|
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)
|
|
|
NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp)
|
rs1490587812
|
|
NM_201253.3(CRB1):c.441_444del (p.Asp148fs)
|
rs1571848688
|
|
NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)
|
|
|
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
|
rs1571848744
|
|
NM_201253.3(CRB1):c.456T>A (p.Cys152Ter)
|
|
|
NM_201253.3(CRB1):c.506del (p.Gly169fs)
|
rs1167867158
|
|
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
|
|
|
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter)
|
rs1658692554
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NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
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NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
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NM_201253.3(CRB1):c.652+1G>A
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rs2125304900
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NM_201253.3(CRB1):c.652+3_652+6del
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rs1658700284
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NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)
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NM_201253.3(CRB1):c.70+1G>T
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rs1237424465
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NM_201253.3(CRB1):c.70+2T>A
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rs1654723466
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NM_201253.3(CRB1):c.71-2A>G
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rs1383691293
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NM_201253.3(CRB1):c.712dup (p.Thr238fs)
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NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)
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NM_201253.3(CRB1):c.721del (p.Asp241fs)
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NM_201253.3(CRB1):c.80G>T (p.Cys27Phe)
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rs1460946384
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NM_201253.3(CRB1):c.848+2T>C
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NM_201253.3(CRB1):c.894_895del (p.Cys298_Glu299delinsTer)
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NM_201253.3(CRB1):c.918G>A (p.Trp306Ter)
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NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr)
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rs1659844562
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NM_201253.3(CRB1):c.995_996del (p.Thr332fs)
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rs1660503192
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NM_201253.3(CRB1):c.998del (p.Gly333fs)
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rs2125354244
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