NM_006445.4(PRPF8):c.306C>T (p.Leu102=)
|
rs113874709
|
0.00104
|
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)
|
rs141456140
|
0.00096
|
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)
|
rs369391284
|
0.00049
|
NM_006445.4(PRPF8):c.1720-7A>G
|
rs200224854
|
0.00039
|
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=)
|
rs144851263
|
0.00039
|
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=)
|
rs75163090
|
0.00035
|
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)
|
rs147958141
|
0.00027
|
NM_006445.4(PRPF8):c.5841C>T (p.Asn1947=)
|
rs142499204
|
0.00027
|
NM_006445.4(PRPF8):c.4022+15A>G
|
rs370376159
|
0.00025
|
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser)
|
rs142411659
|
0.00024
|
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn)
|
rs200389505
|
0.00024
|
NM_006445.4(PRPF8):c.5138+5G>C
|
rs377003550
|
0.00024
|
NM_006445.4(PRPF8):c.389A>G (p.Asn130Ser)
|
rs201671566
|
0.00019
|
NM_006445.4(PRPF8):c.-68C>T
|
rs761491187
|
0.00017
|
NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=)
|
rs372925838
|
0.00016
|
NM_006445.4(PRPF8):c.6657G>A (p.Thr2219=)
|
rs200741294
|
0.00016
|
NM_006445.4(PRPF8):c.5794-11T>C
|
rs187602609
|
0.00015
|
NM_006445.4(PRPF8):c.37C>G (p.Pro13Ala)
|
rs371898516
|
0.00013
|
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=)
|
rs727504109
|
0.00011
|
NM_006445.4(PRPF8):c.3657+4C>T
|
rs200104174
|
0.00011
|
NM_006445.4(PRPF8):c.5022C>T (p.His1674=)
|
rs185936129
|
0.00010
|
NM_006445.4(PRPF8):c.1409+13A>G
|
rs763003164
|
0.00009
|
NM_006445.4(PRPF8):c.283A>G (p.Met95Val)
|
rs373157040
|
0.00009
|
NM_006445.4(PRPF8):c.*11G>T
|
rs767915818
|
0.00006
|
NM_006445.4(PRPF8):c.5164A>G (p.Ser1722Gly)
|
rs201280111
|
0.00006
|
NM_006445.4(PRPF8):c.5794-3C>G
|
rs776617795
|
0.00006
|
NM_006445.4(PRPF8):c.6511-3T>C
|
rs199665387
|
0.00006
|
NM_006445.4(PRPF8):c.434+3G>A
|
rs372997528
|
0.00005
|
NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=)
|
rs140315637
|
0.00005
|
NM_006445.4(PRPF8):c.103C>A (p.Arg35=)
|
rs144810783
|
0.00004
|
NM_006445.4(PRPF8):c.2182-3T>C
|
rs368609533
|
0.00004
|
NM_006445.4(PRPF8):c.271G>T (p.Ala91Ser)
|
rs760143576
|
0.00004
|
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)
|
rs770535800
|
0.00004
|
NM_006445.4(PRPF8):c.3729C>T (p.Arg1243=)
|
rs370510856
|
0.00004
|
NM_006445.4(PRPF8):c.439A>G (p.Met147Val)
|
rs777421010
|
0.00004
|
NM_006445.4(PRPF8):c.4792G>A (p.Asp1598Asn)
|
rs759664867
|
0.00004
|
NM_006445.4(PRPF8):c.4947-5C>T
|
rs190909610
|
0.00004
|
NM_006445.4(PRPF8):c.6750C>T (p.Gly2250=)
|
rs759598868
|
0.00004
|
NM_006445.4(PRPF8):c.74T>C (p.Met25Thr)
|
rs537516822
|
0.00004
|
NM_006445.4(PRPF8):c.*167A>G
|
rs753906300
|
0.00003
|
NM_006445.4(PRPF8):c.1240C>T (p.Arg414Cys)
|
rs368865707
|
0.00003
|
NM_006445.4(PRPF8):c.1420C>T (p.Arg474Cys)
|
rs755296299
|
0.00003
|
NM_006445.4(PRPF8):c.2790C>T (p.Ala930=)
|
rs779910932
|
0.00003
|
NM_006445.4(PRPF8):c.385G>A (p.Val129Ile)
|
rs548682365
|
0.00003
|
NM_006445.4(PRPF8):c.5376+6_5376+9del
|
rs773108151
|
0.00003
|
NM_006445.4(PRPF8):c.56C>T (p.Ala19Val)
|
rs763069309
|
0.00003
|
NM_006445.4(PRPF8):c.623A>G (p.Tyr208Cys)
|
rs1335593452
|
0.00003
|
NM_006445.4(PRPF8):c.654-5C>T
|
rs143954665
|
0.00003
|
NM_006445.4(PRPF8):c.890A>G (p.Asn297Ser)
|
rs765145210
|
0.00003
|
NM_006445.4(PRPF8):c.*36C>G
|
rs776962939
|
0.00002
|
NM_006445.4(PRPF8):c.-24G>A
|
rs886052619
|
0.00002
|
NM_006445.4(PRPF8):c.1075A>G (p.Ile359Val)
|
rs762565821
|
0.00002
|
NM_006445.4(PRPF8):c.1142C>T (p.Pro381Leu)
|
rs745441870
|
0.00002
|
NM_006445.4(PRPF8):c.1235A>G (p.Asn412Ser)
|
rs778586970
|
0.00002
|
NM_006445.4(PRPF8):c.1311C>T (p.Ala437=)
|
rs747870802
|
0.00002
|
NM_006445.4(PRPF8):c.2679G>A (p.Glu893=)
|
rs1004311291
|
0.00002
|
NM_006445.4(PRPF8):c.3009C>T (p.His1003=)
|
rs149785500
|
0.00002
|
NM_006445.4(PRPF8):c.3118A>G (p.Ile1040Val)
|
rs749932316
|
0.00002
|
NM_006445.4(PRPF8):c.3280C>T (p.Arg1094Cys)
|
rs1029078582
|
0.00002
|
NM_006445.4(PRPF8):c.3456G>A (p.Ala1152=)
|
rs766093345
|
0.00002
|
NM_006445.4(PRPF8):c.3611A>G (p.Tyr1204Cys)
|
rs558538478
|
0.00002
|
NM_006445.4(PRPF8):c.5376+6T>C
|
rs369576067
|
0.00002
|
NM_006445.4(PRPF8):c.5987+3G>T
|
rs368882006
|
0.00002
|
NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=)
|
rs374672916
|
0.00002
|
NM_006445.4(PRPF8):c.6896C>T (p.Ala2299Val)
|
rs747942696
|
0.00002
|
NM_006445.4(PRPF8):c.6908A>G (p.Glu2303Gly)
|
rs779481846
|
0.00002
|
NM_006445.4(PRPF8):c.*72C>A
|
rs758889910
|
0.00001
|
NM_006445.4(PRPF8):c.-30T>C
|
rs886052620
|
0.00001
|
NM_006445.4(PRPF8):c.-62G>T
|
rs886052622
|
0.00001
|
NM_006445.4(PRPF8):c.-74C>T
|
rs886052623
|
0.00001
|
NM_006445.4(PRPF8):c.1082A>G (p.His361Arg)
|
rs1236924890
|
0.00001
|
NM_006445.4(PRPF8):c.1115C>T (p.Pro372Leu)
|
rs144200305
|
0.00001
|
NM_006445.4(PRPF8):c.1120G>C (p.Asp374His)
|
rs1336664460
|
0.00001
|
NM_006445.4(PRPF8):c.1153G>A (p.Glu385Lys)
|
rs1912806461
|
0.00001
|
NM_006445.4(PRPF8):c.1263C>T (p.Ala421=)
|
rs886052615
|
0.00001
|
NM_006445.4(PRPF8):c.1295G>A (p.Arg432Gln)
|
rs1487240808
|
0.00001
|
NM_006445.4(PRPF8):c.1385G>A (p.Arg462Gln)
|
rs1278088065
|
0.00001
|
NM_006445.4(PRPF8):c.1401A>G (p.Gln467=)
|
rs751438136
|
0.00001
|
NM_006445.4(PRPF8):c.16C>T (p.Pro6Ser)
|
rs779716922
|
0.00001
|
NM_006445.4(PRPF8):c.1712C>G (p.Ala571Gly)
|
rs1912748763
|
0.00001
|
NM_006445.4(PRPF8):c.1719+4A>G
|
rs774567975
|
0.00001
|
NM_006445.4(PRPF8):c.187C>T (p.Pro63Ser)
|
rs374410261
|
0.00001
|
NM_006445.4(PRPF8):c.2198C>T (p.Thr733Met)
|
rs771458093
|
0.00001
|
NM_006445.4(PRPF8):c.2200C>T (p.Pro734Ser)
|
rs1424625471
|
0.00001
|
NM_006445.4(PRPF8):c.2257A>G (p.Thr753Ala)
|
rs1555553557
|
0.00001
|
NM_006445.4(PRPF8):c.2716G>A (p.Val906Ile)
|
rs544253075
|
0.00001
|
NM_006445.4(PRPF8):c.2801G>T (p.Arg934Leu)
|
rs902856213
|
0.00001
|
NM_006445.4(PRPF8):c.2806T>C (p.Phe936Leu)
|
rs754299754
|
0.00001
|
NM_006445.4(PRPF8):c.2818A>G (p.Ile940Val)
|
rs148919297
|
0.00001
|
NM_006445.4(PRPF8):c.2938C>T (p.Arg980Cys)
|
rs781594036
|
0.00001
|
NM_006445.4(PRPF8):c.2939G>A (p.Arg980His)
|
rs755497774
|
0.00001
|
NM_006445.4(PRPF8):c.3060+4C>T
|
rs776890761
|
0.00001
|
NM_006445.4(PRPF8):c.3060+5G>A
|
rs373156561
|
0.00001
|
NM_006445.4(PRPF8):c.322A>G (p.Met108Val)
|
rs1226483167
|
0.00001
|
NM_006445.4(PRPF8):c.3305C>A (p.Thr1102Lys)
|
rs776540872
|
0.00001
|
NM_006445.4(PRPF8):c.3335G>A (p.Arg1112His)
|
rs780480249
|
0.00001
|
NM_006445.4(PRPF8):c.336G>C (p.Gln112His)
|
rs779897710
|
0.00001
|
NM_006445.4(PRPF8):c.3535A>G (p.Ser1179Gly)
|
rs1477643212
|
0.00001
|
NM_006445.4(PRPF8):c.3541G>T (p.Asp1181Tyr)
|
rs973440488
|
0.00001
|
NM_006445.4(PRPF8):c.3562A>G (p.Asn1188Asp)
|
rs1196221841
|
0.00001
|
NM_006445.4(PRPF8):c.3568T>A (p.Cys1190Ser)
|
rs778213468
|
0.00001
|
NM_006445.4(PRPF8):c.3577G>A (p.Glu1193Lys)
|
rs1221014181
|
0.00001
|
NM_006445.4(PRPF8):c.360C>T (p.Tyr120=)
|
rs764798990
|
0.00001
|
NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=)
|
rs753683243
|
0.00001
|
NM_006445.4(PRPF8):c.4131C>T (p.Ser1377=)
|
rs761899545
|
0.00001
|
NM_006445.4(PRPF8):c.43C>T (p.Pro15Ser)
|
rs761875801
|
0.00001
|
NM_006445.4(PRPF8):c.4509-3C>T
|
rs535981694
|
0.00001
|
NM_006445.4(PRPF8):c.4619C>T (p.Pro1540Leu)
|
rs1362834307
|
0.00001
|
NM_006445.4(PRPF8):c.50C>G (p.Pro17Arg)
|
rs1281548539
|
0.00001
|
NM_006445.4(PRPF8):c.5231G>A (p.Arg1744His)
|
rs1911521689
|
0.00001
|
NM_006445.4(PRPF8):c.5739G>T (p.Gln1913His)
|
rs1911394288
|
0.00001
|
NM_006445.4(PRPF8):c.5881A>G (p.Ile1961Val)
|
rs758386812
|
0.00001
|
NM_006445.4(PRPF8):c.601G>A (p.Ala201Thr)
|
rs745619115
|
0.00001
|
NM_006445.4(PRPF8):c.6050C>T (p.Ser2017Leu)
|
rs914967064
|
0.00001
|
NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=)
|
rs761118301
|
0.00001
|
NM_006445.4(PRPF8):c.6263A>G (p.Asn2088Ser)
|
rs763727794
|
0.00001
|
NM_006445.4(PRPF8):c.6297G>C (p.Glu2099Asp)
|
rs1463152553
|
0.00001
|
NM_006445.4(PRPF8):c.6361C>T (p.Arg2121Trp)
|
rs867684763
|
0.00001
|
NM_006445.4(PRPF8):c.6427C>T (p.Arg2143Cys)
|
rs1206536203
|
0.00001
|
NM_006445.4(PRPF8):c.6428G>A (p.Arg2143His)
|
rs1200243929
|
0.00001
|
NM_006445.4(PRPF8):c.653+8A>G
|
rs538280331
|
0.00001
|
NM_006445.4(PRPF8):c.6584C>G (p.Thr2195Ser)
|
rs377037603
|
0.00001
|
NM_006445.4(PRPF8):c.6650+5G>A
|
rs1246430524
|
0.00001
|
NM_006445.4(PRPF8):c.6801C>T (p.Phe2267=)
|
rs755962697
|
0.00001
|
NM_006445.4(PRPF8):c.6859C>T (p.Arg2287Trp)
|
rs1293883059
|
0.00001
|
NM_006445.4(PRPF8):c.6872A>G (p.Asn2291Ser)
|
rs993874202
|
0.00001
|
NM_006445.4(PRPF8):c.6955C>T (p.Leu2319Phe)
|
rs925931390
|
0.00001
|
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp)
|
rs1910997588
|
0.00001
|
NM_006445.4(PRPF8):c.783G>C (p.Lys261Asn)
|
rs749712016
|
0.00001
|
NM_006445.4(PRPF8):c.935A>T (p.Tyr312Phe)
|
rs940657634
|
0.00001
|
NC_000017.10:g.(?_1554096)_(1557330_?)dup
|
|
|
NC_000017.10:g.(?_1554096)_(1585004_?)dup
|
|
|
NC_000017.10:g.(?_1577736)_(1587865_?)dup
|
|
|
NM_006445.4(PRPF8):c.*36C>T
|
rs776962939
|
|
NM_006445.4(PRPF8):c.*72C>G
|
rs758889910
|
|
NM_006445.4(PRPF8):c.-15T>A
|
rs886052618
|
|
NM_006445.4(PRPF8):c.-34C>T
|
rs886052621
|
|
NM_006445.4(PRPF8):c.-43G>A
|
rs575056329
|
|
NM_006445.4(PRPF8):c.-43G>C
|
rs575056329
|
|
NM_006445.4(PRPF8):c.-4G>T
|
rs886052617
|
|
NM_006445.4(PRPF8):c.-76A>G
|
rs765014520
|
|
NM_006445.4(PRPF8):c.1003C>T (p.Pro335Ser)
|
|
|
NM_006445.4(PRPF8):c.101-8C>T
|
rs369806898
|
|
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu)
|
rs774010147
|
|
NM_006445.4(PRPF8):c.1093G>A (p.Val365Ile)
|
rs1912871372
|
|
NM_006445.4(PRPF8):c.1098+6G>T
|
|
|
NM_006445.4(PRPF8):c.1149T>G (p.Phe383Leu)
|
rs755301153
|
|
NM_006445.4(PRPF8):c.1151T>G (p.Val384Gly)
|
|
|
NM_006445.4(PRPF8):c.1175C>T (p.Pro392Leu)
|
|
|
NM_006445.4(PRPF8):c.1199A>G (p.Asn400Ser)
|
|
|
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val)
|
rs1912802818
|
|
NM_006445.4(PRPF8):c.1226G>A (p.Arg409Gln)
|
rs1330263474
|
|
NM_006445.4(PRPF8):c.1235A>C (p.Asn412Thr)
|
rs778586970
|
|
NM_006445.4(PRPF8):c.1244C>G (p.Ser415Cys)
|
rs1237555096
|
|
NM_006445.4(PRPF8):c.1261G>T (p.Ala421Ser)
|
|
|
NM_006445.4(PRPF8):c.1289+6G>T
|
|
|
NM_006445.4(PRPF8):c.1290-16G>A
|
|
|
NM_006445.4(PRPF8):c.1292A>G (p.Tyr431Cys)
|
|
|
NM_006445.4(PRPF8):c.1294C>T (p.Arg432Trp)
|
rs772894195
|
|
NM_006445.4(PRPF8):c.1309G>A (p.Ala437Thr)
|
|
|
NM_006445.4(PRPF8):c.1317G>T (p.Gln439His)
|
rs1912780617
|
|
NM_006445.4(PRPF8):c.1327G>A (p.Val443Met)
|
rs1912780438
|
|
NM_006445.4(PRPF8):c.1348C>G (p.Leu450Val)
|
|
|
NM_006445.4(PRPF8):c.1384C>T (p.Arg462Trp)
|
rs756080435
|
|
NM_006445.4(PRPF8):c.1393A>G (p.Lys465Glu)
|
rs1476803040
|
|
NM_006445.4(PRPF8):c.1409+3A>G
|
rs1267501512
|
|
NM_006445.4(PRPF8):c.1420C>A (p.Arg474Ser)
|
|
|
NM_006445.4(PRPF8):c.1423T>C (p.Ser475Pro)
|
|
|
NM_006445.4(PRPF8):c.1435A>T (p.Thr479Ser)
|
rs1912768305
|
|
NM_006445.4(PRPF8):c.1439A>G (p.Lys480Arg)
|
|
|
NM_006445.4(PRPF8):c.1447C>G (p.Gln483Glu)
|
rs1912767831
|
|
NM_006445.4(PRPF8):c.1612T>C (p.Ser538Pro)
|
|
|
NM_006445.4(PRPF8):c.1648G>T (p.Val550Phe)
|
|
|
NM_006445.4(PRPF8):c.1653G>A (p.Leu551=)
|
rs1912753368
|
|
NM_006445.4(PRPF8):c.1684G>A (p.Val562Met)
|
rs777124467
|
|
NM_006445.4(PRPF8):c.1691A>G (p.Tyr564Cys)
|
rs1025677958
|
|
NM_006445.4(PRPF8):c.1694G>A (p.Arg565Gln)
|
rs2151129624
|
|
NM_006445.4(PRPF8):c.169C>A (p.Gln57Lys)
|
|
|
NM_006445.4(PRPF8):c.1736A>G (p.Gln579Arg)
|
rs2151129473
|
|
NM_006445.4(PRPF8):c.1741A>C (p.Ile581Leu)
|
|
|
NM_006445.4(PRPF8):c.1741A>G (p.Ile581Val)
|
|
|
NM_006445.4(PRPF8):c.1752T>A (p.His584Gln)
|
|
|
NM_006445.4(PRPF8):c.178G>A (p.Asp60Asn)
|
|
|
NM_006445.4(PRPF8):c.1799G>A (p.Arg600Gln)
|
|
|
NM_006445.4(PRPF8):c.17C>T (p.Pro6Leu)
|
rs2151133802
|
|
NM_006445.4(PRPF8):c.181A>G (p.Met61Val)
|
|
|
NM_006445.4(PRPF8):c.182T>C (p.Met61Thr)
|
rs1913058338
|
|
NM_006445.4(PRPF8):c.1838A>G (p.Tyr613Cys)
|
rs2151129405
|
|
NM_006445.4(PRPF8):c.183G>A (p.Met61Ile)
|
|
|
NM_006445.4(PRPF8):c.1844G>A (p.Arg615His)
|
|
|
NM_006445.4(PRPF8):c.1854+3G>A
|
|
|
NM_006445.4(PRPF8):c.1855-5C>A
|
|
|
NM_006445.4(PRPF8):c.1890_1894del (p.Trp630fs)
|
rs1555553703
|
|
NM_006445.4(PRPF8):c.1894G>A (p.Ala632Thr)
|
|
|
NM_006445.4(PRPF8):c.1897G>A (p.Gly633Ser)
|
|
|
NM_006445.4(PRPF8):c.1912C>T (p.Leu638Phe)
|
|
|
NM_006445.4(PRPF8):c.1948C>T (p.Arg650Ter)
|
|
|
NM_006445.4(PRPF8):c.1969G>T (p.Ala657Ser)
|
|
|
NM_006445.4(PRPF8):c.1984+6T>A
|
|
|
NM_006445.4(PRPF8):c.1994C>A (p.Ser665Ter)
|
|
|
NM_006445.4(PRPF8):c.2093C>T (p.Pro698Leu)
|
|
|
NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)
|
|
|
NM_006445.4(PRPF8):c.2170A>G (p.Ile724Val)
|
|
|
NM_006445.4(PRPF8):c.2181+4G>A
|
rs1357233581
|
|
NM_006445.4(PRPF8):c.2181+5G>A
|
rs747396457
|
|
NM_006445.4(PRPF8):c.2181+5del
|
rs776292405
|
|
NM_006445.4(PRPF8):c.2181G>A (p.Lys727=)
|
|
|
NM_006445.4(PRPF8):c.2182-6dup
|
rs779420760
|
|
NM_006445.4(PRPF8):c.2195C>T (p.Pro732Leu)
|
rs1912617850
|
|
NM_006445.4(PRPF8):c.2203A>G (p.Ile735Val)
|
|
|
NM_006445.4(PRPF8):c.2252C>G (p.Thr751Ser)
|
|
|
NM_006445.4(PRPF8):c.2255A>G (p.Asn752Ser)
|
|
|
NM_006445.4(PRPF8):c.230C>T (p.Thr77Ile)
|
|
|
NM_006445.4(PRPF8):c.2313_2316del (p.Cys772fs)
|
|
|
NM_006445.4(PRPF8):c.2389-6T>G
|
|
|
NM_006445.4(PRPF8):c.239del (p.Lys80fs)
|
rs1913055670
|
|
NM_006445.4(PRPF8):c.2440G>A (p.Val814Met)
|
|
|
NM_006445.4(PRPF8):c.2453A>G (p.Glu818Gly)
|
rs1912599686
|
|
NM_006445.4(PRPF8):c.2458C>T (p.Arg820Cys)
|
|
|
NM_006445.4(PRPF8):c.2471C>G (p.Pro824Arg)
|
|
|
NM_006445.4(PRPF8):c.2515C>T (p.Leu839Phe)
|
rs2151128041
|
|
NM_006445.4(PRPF8):c.2564G>A (p.Arg855Gln)
|
rs2151127926
|
|
NM_006445.4(PRPF8):c.257G>C (p.Arg86Thr)
|
|
|
NM_006445.4(PRPF8):c.2602G>A (p.Glu868Lys)
|
rs2151127906
|
|
NM_006445.4(PRPF8):c.2665_2668del (p.Arg889fs)
|
rs1912582692
|
|
NM_006445.4(PRPF8):c.2679+5G>A
|
rs747734056
|
|
NM_006445.4(PRPF8):c.2680-9G>A
|
rs886052614
|
|
NM_006445.4(PRPF8):c.2680G>A (p.Val894Met)
|
rs1912576146
|
|
NM_006445.4(PRPF8):c.2684G>C (p.Gly895Ala)
|
|
|
NM_006445.4(PRPF8):c.2701C>A (p.Leu901Met)
|
|
|
NM_006445.4(PRPF8):c.2712C>G (p.His904Gln)
|
|
|
NM_006445.4(PRPF8):c.2737C>T (p.Pro913Ser)
|
rs2151127771
|
|
NM_006445.4(PRPF8):c.2759C>T (p.Ala920Val)
|
|
|
NM_006445.4(PRPF8):c.2789C>T (p.Ala930Val)
|
rs1912573317
|
|
NM_006445.4(PRPF8):c.2798G>A (p.Arg933His)
|
|
|
NM_006445.4(PRPF8):c.2800C>T (p.Arg934Cys)
|
|
|
NM_006445.4(PRPF8):c.2872+5A>T
|
rs1912570944
|
|
NM_006445.4(PRPF8):c.2879A>G (p.Asn960Ser)
|
rs1912553788
|
|
NM_006445.4(PRPF8):c.2888A>G (p.Gln963Arg)
|
|
|
NM_006445.4(PRPF8):c.2893G>A (p.Val965Met)
|
|
|
NM_006445.4(PRPF8):c.2921A>G (p.Asn974Ser)
|
|
|
NM_006445.4(PRPF8):c.2926A>G (p.Met976Val)
|
|
|
NM_006445.4(PRPF8):c.2952G>A (p.Met984Ile)
|
|
|
NM_006445.4(PRPF8):c.2964C>T (p.Ile988=)
|
|
|
NM_006445.4(PRPF8):c.3017C>T (p.Ala1006Val)
|
rs1201048866
|
|
NM_006445.4(PRPF8):c.3039del (p.Asn1013fs)
|
rs2151127334
|
|
NM_006445.4(PRPF8):c.3046G>A (p.Val1016Ile)
|
rs1008559652
|
|
NM_006445.4(PRPF8):c.3049A>G (p.Ile1017Val)
|
|
|
NM_006445.4(PRPF8):c.3053A>G (p.Asn1018Ser)
|
rs2151127313
|
|
NM_006445.4(PRPF8):c.3061-14TTCT[2]
|
|
|
NM_006445.4(PRPF8):c.3061-15G>C
|
|
|
NM_006445.4(PRPF8):c.3061-9T>C
|
rs1912518161
|
|
NM_006445.4(PRPF8):c.3081A>C (p.Ser1027=)
|
rs201573889
|
|
NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=)
|
rs201573889
|
|
NM_006445.4(PRPF8):c.3126G>C (p.Gln1042His)
|
rs978250052
|
|
NM_006445.4(PRPF8):c.3150G>C (p.Leu1050Phe)
|
rs2151126880
|
|
NM_006445.4(PRPF8):c.3154G>T (p.Val1052Leu)
|
rs886052613
|
|
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
|
|
|
NM_006445.4(PRPF8):c.3199A>T (p.Met1067Leu)
|
|
|
NM_006445.4(PRPF8):c.319C>T (p.Pro107Ser)
|
|
|
NM_006445.4(PRPF8):c.3224A>G (p.Gln1075Arg)
|
rs2151126834
|
|
NM_006445.4(PRPF8):c.3224A>T (p.Gln1075Leu)
|
|
|
NM_006445.4(PRPF8):c.3231A>G (p.Ile1077Met)
|
|
|
NM_006445.4(PRPF8):c.3238G>A (p.Glu1080Lys)
|
|
|
NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=)
|
rs746764862
|
|
NM_006445.4(PRPF8):c.3263T>C (p.Phe1088Ser)
|
rs1912508817
|
|
NM_006445.4(PRPF8):c.3281G>A (p.Arg1094His)
|
|
|
NM_006445.4(PRPF8):c.3298A>C (p.Arg1100=)
|
|
|
NM_006445.4(PRPF8):c.32G>A (p.Gly11Asp)
|
|
|
NM_006445.4(PRPF8):c.3300G>T (p.Arg1100Ser)
|
|
|
NM_006445.4(PRPF8):c.3304A>G (p.Thr1102Ala)
|
|
|
NM_006445.4(PRPF8):c.3319C>T (p.Arg1107Trp)
|
rs2151126253
|
|
NM_006445.4(PRPF8):c.3334C>T (p.Arg1112Cys)
|
|
|
NM_006445.4(PRPF8):c.3353del (p.Pro1118fs)
|
rs1912459271
|
|
NM_006445.4(PRPF8):c.3361A>G (p.Asn1121Asp)
|
|
|
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly)
|
rs1912457869
|
|
NM_006445.4(PRPF8):c.3376G>A (p.Val1126Ile)
|
|
|
NM_006445.4(PRPF8):c.3398G>T (p.Cys1133Phe)
|
|
|
NM_006445.4(PRPF8):c.340C>G (p.Arg114Gly)
|
|
|
NM_006445.4(PRPF8):c.340C>T (p.Arg114Trp)
|
rs146929391
|
|
NM_006445.4(PRPF8):c.3427A>G (p.Met1143Val)
|
|
|
NM_006445.4(PRPF8):c.3452G>A (p.Arg1151Gln)
|
|
|
NM_006445.4(PRPF8):c.3484C>G (p.Pro1162Ala)
|
rs2151125963
|
|
NM_006445.4(PRPF8):c.3502G>A (p.Val1168Ile)
|
|
|
NM_006445.4(PRPF8):c.3523G>A (p.Val1175Met)
|
|
|
NM_006445.4(PRPF8):c.3523G>C (p.Val1175Leu)
|
|
|
NM_006445.4(PRPF8):c.3536G>A (p.Ser1179Asn)
|
|
|
NM_006445.4(PRPF8):c.3563A>C (p.Asn1188Thr)
|
rs2151125894
|
|
NM_006445.4(PRPF8):c.3566T>C (p.Met1189Thr)
|
|
|
NM_006445.4(PRPF8):c.356T>C (p.Leu119Pro)
|
|
|
NM_006445.4(PRPF8):c.3583C>T (p.Arg1195Cys)
|
|
|
NM_006445.4(PRPF8):c.3584G>A (p.Arg1195His)
|
|
|
NM_006445.4(PRPF8):c.3588C>G (p.Ile1196Met)
|
|
|
NM_006445.4(PRPF8):c.358T>C (p.Tyr120His)
|
|
|
NM_006445.4(PRPF8):c.35_49dup (p.Gly16_Pro17insHisProValProGly)
|
|
|
NM_006445.4(PRPF8):c.3614A>C (p.Glu1205Ala)
|
rs2151125843
|
|
NM_006445.4(PRPF8):c.361C>G (p.His121Asp)
|
|
|
NM_006445.4(PRPF8):c.3657+9T>C
|
rs886052612
|
|
NM_006445.4(PRPF8):c.3658-17T>G
|
rs773449766
|
|
NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=)
|
rs549397527
|
|
NM_006445.4(PRPF8):c.3675A>G (p.Thr1225=)
|
|
|
NM_006445.4(PRPF8):c.3689T>A (p.Leu1230Gln)
|
rs2151125640
|
|
NM_006445.4(PRPF8):c.36C>G (p.Asn12Lys)
|
|
|
NM_006445.4(PRPF8):c.3709A>G (p.Met1237Val)
|
rs1053250821
|
|
NM_006445.4(PRPF8):c.3728G>A (p.Arg1243His)
|
rs1219818327
|
|
NM_006445.4(PRPF8):c.3730G>A (p.Val1244Met)
|
|
|
NM_006445.4(PRPF8):c.3812T>C (p.Met1271Thr)
|
rs1911702506
|
|
NM_006445.4(PRPF8):c.3816A>G (p.Thr1272=)
|
rs1911702394
|
|
NM_006445.4(PRPF8):c.3884T>C (p.Ile1295Thr)
|
|
|
NM_006445.4(PRPF8):c.3893G>A (p.Arg1298His)
|
rs2151116846
|
|
NM_006445.4(PRPF8):c.3905G>A (p.Gly1302Glu)
|
|
|
NM_006445.4(PRPF8):c.3935C>A (p.Pro1312His)
|
|
|
NM_006445.4(PRPF8):c.3975C>A (p.Leu1325=)
|
|
|
NM_006445.4(PRPF8):c.3988A>G (p.Met1330Val)
|
|
|
NM_006445.4(PRPF8):c.4037C>T (p.Thr1346Ile)
|
rs2151116688
|
|
NM_006445.4(PRPF8):c.4042G>A (p.Val1348Ile)
|
|
|
NM_006445.4(PRPF8):c.405C>A (p.Val135=)
|
rs1912966508
|
|
NM_006445.4(PRPF8):c.4061G>A (p.Arg1354His)
|
|
|
NM_006445.4(PRPF8):c.4072A>C (p.Ser1358Arg)
|
rs1351359957
|
|
NM_006445.4(PRPF8):c.4083A>C (p.Glu1361Asp)
|
rs773400326
|
|
NM_006445.4(PRPF8):c.4103T>C (p.Leu1368Ser)
|
|
|
NM_006445.4(PRPF8):c.4114A>G (p.Ile1372Val)
|
rs1911685243
|
|
NM_006445.4(PRPF8):c.4150C>T (p.Arg1384Trp)
|
rs1911684227
|
|
NM_006445.4(PRPF8):c.4196A>G (p.Gln1399Arg)
|
rs2151116638
|
|
NM_006445.4(PRPF8):c.4203-14T>C
|
|
|
NM_006445.4(PRPF8):c.4203-18T>G
|
rs2151116516
|
|
NM_006445.4(PRPF8):c.4279C>T (p.Arg1427Trp)
|
|
|
NM_006445.4(PRPF8):c.4280G>A (p.Arg1427Gln)
|
|
|
NM_006445.4(PRPF8):c.4338+6T>A
|
rs1240784041
|
|
NM_006445.4(PRPF8):c.4339-2A>G
|
rs2151116387
|
|
NM_006445.4(PRPF8):c.4339-7C>T
|
rs1911661181
|
|
NM_006445.4(PRPF8):c.4339-8C>G
|
rs2151116389
|
|
NM_006445.4(PRPF8):c.434+1dup
|
rs746170558
|
|
NM_006445.4(PRPF8):c.434+5G>T
|
|
|
NM_006445.4(PRPF8):c.435-3C>T
|
rs112242959
|
|
NM_006445.4(PRPF8):c.4394G>A (p.Trp1465Ter)
|
rs1911659345
|
|
NM_006445.4(PRPF8):c.440T>C (p.Met147Thr)
|
rs1193857646
|
|
NM_006445.4(PRPF8):c.4428_4429del (p.Gln1476fs)
|
|
|
NM_006445.4(PRPF8):c.4508+3G>A
|
|
|
NM_006445.4(PRPF8):c.458G>A (p.Arg153Gln)
|
|
|
NM_006445.4(PRPF8):c.4600T>C (p.Phe1534Leu)
|
|
|
NM_006445.4(PRPF8):c.4635C>T (p.Ala1545=)
|
|
|
NM_006445.4(PRPF8):c.4638T>C (p.Asn1546=)
|
|
|
NM_006445.4(PRPF8):c.4673C>T (p.Thr1558Met)
|
|
|
NM_006445.4(PRPF8):c.4687C>T (p.His1563Tyr)
|
|
|
NM_006445.4(PRPF8):c.4772T>C (p.Met1591Thr)
|
|
|
NM_006445.4(PRPF8):c.4780T>C (p.Cys1594Arg)
|
rs1911623254
|
|
NM_006445.4(PRPF8):c.4780_4784del (p.Cys1594fs)
|
rs1911622593
|
|
NM_006445.4(PRPF8):c.4781G>A (p.Cys1594Tyr)
|
|
|
NM_006445.4(PRPF8):c.4789T>C (p.Phe1597Leu)
|
|
|
NM_006445.4(PRPF8):c.4792G>C (p.Asp1598His)
|
rs759664867
|
|
NM_006445.4(PRPF8):c.4793A>T (p.Asp1598Val)
|
|
|
NM_006445.4(PRPF8):c.47G>C (p.Gly16Ala)
|
|
|
NM_006445.4(PRPF8):c.4816A>G (p.Ile1606Val)
|
|
|
NM_006445.4(PRPF8):c.4901C>G (p.Ser1634Cys)
|
|
|
NM_006445.4(PRPF8):c.4901C>T (p.Ser1634Phe)
|
rs2151115488
|
|
NM_006445.4(PRPF8):c.4912A>C (p.Asn1638His)
|
|
|
NM_006445.4(PRPF8):c.4946+3_4946+6del
|
|
|
NM_006445.4(PRPF8):c.4985T>C (p.Ile1662Thr)
|
|
|
NM_006445.4(PRPF8):c.4987G>A (p.Asp1663Asn)
|
|
|
NM_006445.4(PRPF8):c.4G>A (p.Ala2Thr)
|
|
|
NM_006445.4(PRPF8):c.5000G>A (p.Arg1667His)
|
rs768194464
|
|
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=)
|
rs794727562
|
|
NM_006445.4(PRPF8):c.5026A>G (p.Ile1676Val)
|
rs1366034263
|
|
NM_006445.4(PRPF8):c.5038G>A (p.Ala1680Thr)
|
|
|
NM_006445.4(PRPF8):c.5038G>T (p.Ala1680Ser)
|
rs1298791789
|
|
NM_006445.4(PRPF8):c.5110G>A (p.Ala1704Thr)
|
|
|
NM_006445.4(PRPF8):c.5113A>G (p.Ile1705Val)
|
|
|
NM_006445.4(PRPF8):c.5138+5G>T
|
rs377003550
|
|
NM_006445.4(PRPF8):c.5186C>A (p.Ala1729Asp)
|
rs2151114664
|
|
NM_006445.4(PRPF8):c.5207C>T (p.Ala1736Val)
|
|
|
NM_006445.4(PRPF8):c.5238G>T (p.Arg1746=)
|
rs374611477
|
|
NM_006445.4(PRPF8):c.5285A>C (p.Tyr1762Ser)
|
rs1911519224
|
|
NM_006445.4(PRPF8):c.5308G>A (p.Glu1770Lys)
|
|
|
NM_006445.4(PRPF8):c.534T>C (p.Tyr178=)
|
rs886052616
|
|
NM_006445.4(PRPF8):c.5377-1G>T
|
rs1911505318
|
|
NM_006445.4(PRPF8):c.5413G>A (p.Gly1805Arg)
|
rs1597230180
|
|
NM_006445.4(PRPF8):c.5429T>C (p.Phe1810Ser)
|
rs2151114414
|
|
NM_006445.4(PRPF8):c.5471C>T (p.Thr1824Met)
|
rs1911502120
|
|
NM_006445.4(PRPF8):c.5491A>G (p.Lys1831Glu)
|
rs2151114374
|
|
NM_006445.4(PRPF8):c.5506-5T>G
|
rs2151113236
|
|
NM_006445.4(PRPF8):c.5508G>A (p.Leu1836=)
|
|
|
NM_006445.4(PRPF8):c.550G>C (p.Asp184His)
|
rs2151131953
|
|
NM_006445.4(PRPF8):c.5548C>T (p.Arg1850Ter)
|
rs368223523
|
|
NM_006445.4(PRPF8):c.5578C>G (p.Gln1860Glu)
|
|
|
NM_006445.4(PRPF8):c.5594G>A (p.Arg1865Lys)
|
rs1911407117
|
|
NM_006445.4(PRPF8):c.5594G>C (p.Arg1865Thr)
|
rs1911407117
|
|
NM_006445.4(PRPF8):c.55G>A (p.Ala19Thr)
|
rs2151133760
|
|
NM_006445.4(PRPF8):c.5619+2T>C
|
rs1911406583
|
|
NM_006445.4(PRPF8):c.5642A>G (p.Asn1881Ser)
|
|
|
NM_006445.4(PRPF8):c.5660C>T (p.Ser1887Leu)
|
|
|
NM_006445.4(PRPF8):c.5662G>A (p.Glu1888Lys)
|
rs2151113106
|
|
NM_006445.4(PRPF8):c.5707G>A (p.Gly1903Arg)
|
|
|
NM_006445.4(PRPF8):c.571A>G (p.Ile191Val)
|
rs1015837182
|
|
NM_006445.4(PRPF8):c.5769G>A (p.Trp1923Ter)
|
|
|
NM_006445.4(PRPF8):c.578T>C (p.Leu193Pro)
|
|
|
NM_006445.4(PRPF8):c.5793+4T>C
|
rs756622180
|
|
NM_006445.4(PRPF8):c.57C>G (p.Ala19=)
|
rs943865335
|
|
NM_006445.4(PRPF8):c.5801C>G (p.Ser1934Cys)
|
rs1911322438
|
|
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys)
|
rs1911322255
|
|
NM_006445.4(PRPF8):c.5804G>T (p.Arg1935Leu)
|
|
|
NM_006445.4(PRPF8):c.5806C>G (p.Leu1936Val)
|
|
|
NM_006445.4(PRPF8):c.580G>C (p.Glu194Gln)
|
|
|
NM_006445.4(PRPF8):c.5840A>G (p.Asn1947Ser)
|
rs1555550610
|
|
NM_006445.4(PRPF8):c.5848G>A (p.Ala1950Thr)
|
rs2151112459
|
|
NM_006445.4(PRPF8):c.5849C>A (p.Ala1950Glu)
|
|
|
NM_006445.4(PRPF8):c.5864A>G (p.Lys1955Arg)
|
rs1597227679
|
|
NM_006445.4(PRPF8):c.5866C>G (p.Pro1956Ala)
|
|
|
NM_006445.4(PRPF8):c.5870A>T (p.Asp1957Val)
|
rs1567676517
|
|
NM_006445.4(PRPF8):c.5871C>G (p.Asp1957Glu)
|
|
|
NM_006445.4(PRPF8):c.5875A>G (p.Thr1959Ala)
|
|
|
NM_006445.4(PRPF8):c.5889A>C (p.Glu1963Asp)
|
|
|
NM_006445.4(PRPF8):c.5915C>A (p.Thr1972Asn)
|
rs1167214600
|
|
NM_006445.4(PRPF8):c.5930T>C (p.Ile1977Thr)
|
rs1420322473
|
|
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=)
|
rs758937794
|
|
NM_006445.4(PRPF8):c.5951A>G (p.Lys1984Arg)
|
rs1911312551
|
|
NM_006445.4(PRPF8):c.5974G>A (p.Gly1992Ser)
|
|
|
NM_006445.4(PRPF8):c.5987+6C>T
|
|
|
NM_006445.4(PRPF8):c.59C>G (p.Pro20Arg)
|
rs769676574
|
|
NM_006445.4(PRPF8):c.59C>T (p.Pro20Leu)
|
|
|
NM_006445.4(PRPF8):c.602C>A (p.Ala201Asp)
|
rs982996032
|
|
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
|
|
|
NM_006445.4(PRPF8):c.6066G>A (p.Gln2022=)
|
|
|
NM_006445.4(PRPF8):c.6068G>A (p.Arg2023Gln)
|
rs2151111382
|
|
NM_006445.4(PRPF8):c.6146A>G (p.Lys2049Arg)
|
|
|
NM_006445.4(PRPF8):c.6159G>C (p.Glu2053Asp)
|
|
|
NM_006445.4(PRPF8):c.6172_6283del112 (p.Asn2061fs)
|
|
|
NM_006445.4(PRPF8):c.6178A>G (p.Ser2060Gly)
|
|
|
NM_006445.4(PRPF8):c.6185A>G (p.Tyr2062Cys)
|
rs1911208942
|
|
NM_006445.4(PRPF8):c.6189G>T (p.Glu2063Asp)
|
rs2151111316
|
|
NM_006445.4(PRPF8):c.6191C>A (p.Thr2064Asn)
|
|
|
NM_006445.4(PRPF8):c.6192_6193delinsAG (p.Gln2065Glu)
|
rs1911208576
|
|
NM_006445.4(PRPF8):c.6194A>G (p.Gln2065Arg)
|
rs1911208451
|
|
NM_006445.4(PRPF8):c.6230C>A (p.Ala2077Asp)
|
rs2151111227
|
|
NM_006445.4(PRPF8):c.6250C>G (p.His2084Asp)
|
rs1911199156
|
|
NM_006445.4(PRPF8):c.625G>A (p.Asp209Asn)
|
|
|
NM_006445.4(PRPF8):c.6268A>G (p.Ile2090Val)
|
rs1911198453
|
|
NM_006445.4(PRPF8):c.6272A>G (p.Tyr2091Cys)
|
rs2151111203
|
|
NM_006445.4(PRPF8):c.6286G>A (p.Asp2096Asn)
|
|
|
NM_006445.4(PRPF8):c.6289A>G (p.Ile2097Val)
|
rs2151111193
|
|
NM_006445.4(PRPF8):c.6299C>T (p.Thr2100Ile)
|
rs2151111184
|
|
NM_006445.4(PRPF8):c.6369+3_6369+6del
|
|
|
NM_006445.4(PRPF8):c.6369+4A>T
|
rs2151111149
|
|
NM_006445.4(PRPF8):c.6377G>A (p.Gly2126Glu)
|
rs1360391558
|
|
NM_006445.4(PRPF8):c.6414G>C (p.Gln2138His)
|
rs1911084608
|
|
NM_006445.4(PRPF8):c.6446C>T (p.Pro2149Leu)
|
|
|
NM_006445.4(PRPF8):c.6446_6447insCAC (p.Pro2149_Gln2150insThr)
|
rs1911082583
|
|
NM_006445.4(PRPF8):c.6449A>G (p.Gln2150Arg)
|
rs1911081749
|
|
NM_006445.4(PRPF8):c.644A>G (p.Asp215Gly)
|
rs1567692547
|
|
NM_006445.4(PRPF8):c.6453G>C (p.Trp2151Cys)
|
rs2151109782
|
|
NM_006445.4(PRPF8):c.645C>T (p.Asp215=)
|
rs758699232
|
|
NM_006445.4(PRPF8):c.6461A>G (p.His2154Arg)
|
rs1911081044
|
|
NM_006445.4(PRPF8):c.6462C>A (p.His2154Gln)
|
|
|
NM_006445.4(PRPF8):c.6466A>C (p.Thr2156Pro)
|
rs2151109770
|
|
NM_006445.4(PRPF8):c.6469G>A (p.Val2157Met)
|
|
|
NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu)
|
rs878853388
|
|
NM_006445.4(PRPF8):c.6473_6474del (p.His2158fs)
|
|
|
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del)
|
rs1597224402
|
|
NM_006445.4(PRPF8):c.64C>T (p.Pro22Ser)
|
|
|
NM_006445.4(PRPF8):c.6505C>T (p.Leu2169Phe)
|
|
|
NM_006445.4(PRPF8):c.6510+5T>C
|
|
|
NM_006445.4(PRPF8):c.653A>G (p.Lys218Arg)
|
rs1912946069
|
|
NM_006445.4(PRPF8):c.654G>A (p.Lys218=)
|
|
|
NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro)
|
rs929492529
|
|
NM_006445.4(PRPF8):c.6595A>G (p.Ile2199Val)
|
|
|
NM_006445.4(PRPF8):c.6634A>G (p.Ile2212Val)
|
|
|
NM_006445.4(PRPF8):c.6650+4G>A
|
|
|
NM_006445.4(PRPF8):c.6651-3C>A
|
rs1467838102
|
|
NM_006445.4(PRPF8):c.6702C>G (p.Gly2234=)
|
rs1911040337
|
|
NM_006445.4(PRPF8):c.6706G>A (p.Glu2236Lys)
|
|
|
NM_006445.4(PRPF8):c.6740A>G (p.Asn2247Ser)
|
|
|
NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile)
|
rs886052611
|
|
NM_006445.4(PRPF8):c.680G>T (p.Arg227Leu)
|
rs11559304
|
|
NM_006445.4(PRPF8):c.6821C>T (p.Pro2274Leu)
|
rs1597223721
|
|
NM_006445.4(PRPF8):c.6833C>G (p.Ser2278Trp)
|
|
|
NM_006445.4(PRPF8):c.6833C>T (p.Ser2278Leu)
|
rs1327478855
|
|
NM_006445.4(PRPF8):c.6837G>C (p.Trp2279Cys)
|
|
|
NM_006445.4(PRPF8):c.6837G>T (p.Trp2279Cys)
|
rs2151109229
|
|
NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp)
|
rs1911029601
|
|
NM_006445.4(PRPF8):c.6852G>A (p.Met2284Ile)
|
|
|
NM_006445.4(PRPF8):c.6853+3A>C
|
|
|
NM_006445.4(PRPF8):c.6854-14C>A
|
rs573493017
|
|
NM_006445.4(PRPF8):c.686A>G (p.Gln229Arg)
|
|
|
NM_006445.4(PRPF8):c.6895G>A (p.Ala2299Thr)
|
|
|
NM_006445.4(PRPF8):c.6898A>G (p.Asn2300Asp)
|
|
|
NM_006445.4(PRPF8):c.68A>T (p.Asp23Val)
|
|
|
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu)
|
rs2151109012
|
|
NM_006445.4(PRPF8):c.6906A>C (p.Lys2302Asn)
|
|
|
NM_006445.4(PRPF8):c.6906A>T (p.Lys2302Asn)
|
|
|
NM_006445.4(PRPF8):c.6910T>G (p.Phe2304Val)
|
rs1911004419
|
|
NM_006445.4(PRPF8):c.6918C>G (p.His2306Gln)
|
rs756489004
|
|
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp)
|
rs2151108985
|
|
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu)
|
rs121434236
|
|
NM_006445.4(PRPF8):c.6931C>T (p.Pro2311Ser)
|
|
|
NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg)
|
rs1555550045
|
|
NM_006445.4(PRPF8):c.6946_6947dup (p.Asn2316fs)
|
|
|
NM_006445.4(PRPF8):c.6949T>A (p.Phe2317Ile)
|
rs1027069873
|
|
NM_006445.4(PRPF8):c.6959T>G (p.Leu2320Arg)
|
|
|
NM_006445.4(PRPF8):c.6962A>T (p.Gln2321Leu)
|
|
|
NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp)
|
rs766407266
|
|
NM_006445.4(PRPF8):c.6967G>A (p.Gly2323Arg)
|
rs1910997588
|
|
NM_006445.4(PRPF8):c.6968G>A (p.Gly2323Glu)
|
rs2151108937
|
|
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)
|
rs1064797215
|
|
NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter)
|
rs773363890
|
|
NM_006445.4(PRPF8):c.6983C>T (p.Ala2328Val)
|
|
|
NM_006445.4(PRPF8):c.6986_6990dup (p.Glu2331fs)
|
rs2151108913
|
|
NM_006445.4(PRPF8):c.6989G>C (p.Arg2330Pro)
|
rs1192693354
|
|
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys)
|
rs1597223220
|
|
NM_006445.4(PRPF8):c.6994G>T (p.Asp2332Tyr)
|
|
|
NM_006445.4(PRPF8):c.6996C>A (p.Asp2332Glu)
|
rs1162009923
|
|
NM_006445.4(PRPF8):c.7002T>G (p.Tyr2334Ter)
|
rs757906173
|
|
NM_006445.4(PRPF8):c.7003_*27del (p.Ala2335_Ter2336del)
|
|
|
NM_006445.4(PRPF8):c.703A>G (p.Met235Val)
|
|
|
NM_006445.4(PRPF8):c.716A>G (p.Tyr239Cys)
|
|
|
NM_006445.4(PRPF8):c.76T>A (p.Ser26Thr)
|
rs2151133732
|
|
NM_006445.4(PRPF8):c.77C>T (p.Ser26Leu)
|
|
|
NM_006445.4(PRPF8):c.802G>A (p.Ala268Thr)
|
rs1280004435
|
|
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser)
|
rs756656471
|
|
NM_006445.4(PRPF8):c.833A>G (p.Lys278Arg)
|
|
|
NM_006445.4(PRPF8):c.851G>A (p.Arg284Gln)
|
rs1912920951
|
|
NM_006445.4(PRPF8):c.866+3G>A
|
|
|
NM_006445.4(PRPF8):c.866A>G (p.Gln289Arg)
|
|
|
NM_006445.4(PRPF8):c.867-14A>C
|
rs1912894972
|
|
NM_006445.4(PRPF8):c.867-5C>G
|
|
|
NM_006445.4(PRPF8):c.869A>G (p.Asp290Gly)
|
|
|
NM_006445.4(PRPF8):c.87_98dup (p.Lys33_Ala34insLeuGlnGluLys)
|
|
|
NM_006445.4(PRPF8):c.890_891delinsGC (p.Asn297Ser)
|
rs2151131273
|
|
NM_006445.4(PRPF8):c.898A>G (p.Asn300Asp)
|
rs2151131263
|
|
NM_006445.4(PRPF8):c.914G>T (p.Arg305Leu)
|
|
|
NM_006445.4(PRPF8):c.926G>A (p.Arg309His)
|
rs775023296
|
|
NM_006445.4(PRPF8):c.944C>T (p.Ala315Val)
|
rs773955596
|
|
NM_006445.4(PRPF8):c.961A>G (p.Asn321Asp)
|
|
|
NM_006445.4(PRPF8):c.965A>G (p.Asn322Ser)
|
|
|
NM_006445.4(PRPF8):c.971C>T (p.Pro324Leu)
|
|
|
NM_006445.4(PRPF8):c.98A>T (p.Lys33Ile)
|
|
|