|
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
|
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)
|
rs434102
|
0.77412
|
|
NM_000322.5(PRPH2):c.318T>C (p.Val106=)
|
rs7764439
|
0.59853
|
|
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)
|
rs61755770
|
0.00414
|
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
|
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)
|
rs61755775
|
0.00053
|
|
NM_000322.5(PRPH2):c.909C>T (p.Ser303=)
|
rs144111167
|
0.00049
|
|
NM_000322.5(PRPH2):c.830T>G (p.Val277Gly)
|
rs140406696
|
0.00044
|
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
|
NM_000322.5(PRPH2):c.264A>C (p.Pro88=)
|
rs1294407459
|
0.00034
|
|
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)
|
rs61755767
|
0.00026
|
|
NM_000322.5(PRPH2):c.75G>C (p.Trp25Cys)
|
rs146686238
|
0.00024
|
|
NM_000322.5(PRPH2):c.594C>T (p.Ser198=)
|
rs375978676
|
0.00022
|
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
|
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)
|
rs760687443
|
0.00018
|
|
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)
|
rs61754402
|
0.00018
|
|
NM_000322.5(PRPH2):c.252C>T (p.Asp84=)
|
rs139936445
|
0.00017
|
|
NM_000322.5(PRPH2):c.1002C>T (p.Ala334=)
|
rs142381301
|
0.00015
|
|
NM_000322.5(PRPH2):c.828+20G>A
|
rs765805559
|
0.00014
|
|
NM_000322.5(PRPH2):c.507C>T (p.Asn169=)
|
rs143096101
|
0.00013
|
|
NM_000322.5(PRPH2):c.146G>C (p.Ser49Thr)
|
rs146844134
|
0.00012
|
|
NM_000322.5(PRPH2):c.300G>A (p.Pro100=)
|
rs150695654
|
0.00011
|
|
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)
|
rs150381599
|
0.00011
|
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
|
NM_000322.5(PRPH2):c.842T>C (p.Ile281Thr)
|
rs146659849
|
0.00009
|
|
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)
|
rs752365478
|
0.00006
|
|
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)
|
rs555112175
|
0.00006
|
|
NM_000322.5(PRPH2):c.791C>G (p.Ser264Cys)
|
rs768210586
|
0.00006
|
|
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln)
|
rs762660751
|
0.00006
|
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
|
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)
|
rs747893076
|
0.00004
|
|
NM_000322.5(PRPH2):c.312C>T (p.Ile104=)
|
rs200009675
|
0.00004
|
|
NM_000322.5(PRPH2):c.408C>T (p.Asn136=)
|
rs148513859
|
0.00004
|
|
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)
|
rs543703718
|
0.00003
|
|
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)
|
rs554945964
|
0.00003
|
|
NM_000322.5(PRPH2):c.498C>T (p.Cys166=)
|
rs759752477
|
0.00003
|
|
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)
|
rs759011231
|
0.00003
|
|
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly)
|
rs202230698
|
0.00003
|
|
NM_000322.5(PRPH2):c.1001C>T (p.Ala334Val)
|
rs903826110
|
0.00002
|
|
NM_000322.5(PRPH2):c.375G>A (p.Ser125=)
|
rs777764923
|
0.00002
|
|
NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser)
|
rs781256236
|
0.00002
|
|
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)
|
rs146703538
|
0.00002
|
|
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile)
|
rs199572514
|
0.00002
|
|
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)
|
rs753657349
|
0.00002
|
|
NM_000322.5(PRPH2):c.684C>T (p.Thr228=)
|
rs375272298
|
0.00002
|
|
NM_000322.5(PRPH2):c.828+19G>C
|
rs753117002
|
0.00002
|
|
NM_000322.5(PRPH2):c.846G>A (p.Gly282=)
|
rs375325973
|
0.00002
|
|
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)
|
rs139329966
|
0.00002
|
|
NM_000322.5(PRPH2):c.1003G>A (p.Glu335Lys)
|
rs1166310608
|
0.00001
|
|
NM_000322.5(PRPH2):c.1027C>T (p.Pro343Ser)
|
rs771868894
|
0.00001
|
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
|
NM_000322.5(PRPH2):c.186C>T (p.Asn62=)
|
rs755239769
|
0.00001
|
|
NM_000322.5(PRPH2):c.204G>A (p.Gly68=)
|
rs780175779
|
0.00001
|
|
NM_000322.5(PRPH2):c.205G>T (p.Val69Leu)
|
rs558060514
|
0.00001
|
|
NM_000322.5(PRPH2):c.21G>T (p.Lys7Asn)
|
rs1582781191
|
0.00001
|
|
NM_000322.5(PRPH2):c.250G>A (p.Asp84Asn)
|
rs368257452
|
0.00001
|
|
NM_000322.5(PRPH2):c.253G>A (p.Ala85Thr)
|
rs760311433
|
0.00001
|
|
NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu)
|
rs768400169
|
0.00001
|
|
NM_000322.5(PRPH2):c.324C>T (p.Phe108=)
|
rs950303632
|
0.00001
|
|
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu)
|
rs772861671
|
0.00001
|
|
NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys)
|
rs1761910060
|
0.00001
|
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
|
NM_000322.5(PRPH2):c.431C>A (p.Thr144Lys)
|
rs1380413370
|
0.00001
|
|
NM_000322.5(PRPH2):c.468C>G (p.Ile156Met)
|
rs761275918
|
0.00001
|
|
NM_000322.5(PRPH2):c.468C>T (p.Ile156=)
|
rs761275918
|
0.00001
|
|
NM_000322.5(PRPH2):c.508G>A (p.Gly170Ser)
|
rs61755791
|
0.00001
|
|
NM_000322.5(PRPH2):c.511T>A (p.Phe171Ile)
|
rs200876455
|
0.00001
|
|
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)
|
rs779414078
|
0.00001
|
|
NM_000322.5(PRPH2):c.547C>T (p.Arg183Cys)
|
rs755449912
|
0.00001
|
|
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)
|
rs121918563
|
0.00001
|
|
NM_000322.5(PRPH2):c.582-14dup
|
rs751001788
|
0.00001
|
|
NM_000322.5(PRPH2):c.582-20G>C
|
rs75063935
|
0.00001
|
|
NM_000322.5(PRPH2):c.597C>T (p.Asn199=)
|
rs1419638211
|
0.00001
|
|
NM_000322.5(PRPH2):c.603T>C (p.Asp201=)
|
rs1039760665
|
0.00001
|
|
NM_000322.5(PRPH2):c.621C>T (p.Asp207=)
|
rs1265234802
|
0.00001
|
|
NM_000322.5(PRPH2):c.622G>A (p.Gly208Ser)
|
rs901479607
|
0.00001
|
|
NM_000322.5(PRPH2):c.630T>A (p.Pro210=)
|
rs760803268
|
0.00001
|
|
NM_000322.5(PRPH2):c.634A>C (p.Ser212Arg)
|
rs61755800
|
0.00001
|
|
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)
|
rs61755803
|
0.00001
|
|
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)
|
rs61755806
|
0.00001
|
|
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)
|
rs767471467
|
0.00001
|
|
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)
|
rs61755810
|
0.00001
|
|
NM_000322.5(PRPH2):c.663C>T (p.Pro221=)
|
rs747689734
|
0.00001
|
|
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)
|
rs369507460
|
0.00001
|
|
NM_000322.5(PRPH2):c.751A>G (p.Arg251Gly)
|
rs772701367
|
0.00001
|
|
NM_000322.5(PRPH2):c.767G>A (p.Ser256Asn)
|
rs980783693
|
0.00001
|
|
NM_000322.5(PRPH2):c.798T>G (p.Gly266=)
|
rs749201548
|
0.00001
|
|
NM_000322.5(PRPH2):c.800T>C (p.Val267Ala)
|
rs1009889150
|
0.00001
|
|
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)
|
rs61755766
|
0.00001
|
|
NM_000322.5(PRPH2):c.81C>T (p.Ser27=)
|
rs1170303882
|
0.00001
|
|
NM_000322.5(PRPH2):c.826G>A (p.Glu276Lys)
|
rs751900290
|
0.00001
|
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
|
NM_000322.5(PRPH2):c.828+6C>T
|
rs564177869
|
0.00001
|
|
NM_000322.5(PRPH2):c.850C>T (p.Arg284Cys)
|
rs370994796
|
0.00001
|
|
NM_000322.5(PRPH2):c.852C>A (p.Arg284=)
|
rs745807357
|
0.00001
|
|
NM_000322.5(PRPH2):c.879G>A (p.Val293=)
|
rs758660018
|
0.00001
|
|
NM_000322.5(PRPH2):c.904G>A (p.Glu302Lys)
|
rs61748430
|
0.00001
|
|
NM_000322.5(PRPH2):c.911A>C (p.Gln304Pro)
|
rs750796514
|
0.00001
|
|
NM_000322.5(PRPH2):c.945C>G (p.Thr315=)
|
rs936676026
|
0.00001
|
|
NM_000322.5(PRPH2):c.98T>C (p.Ile33Thr)
|
rs767850825
|
0.00001
|
|
NC_000006.11:g.(?_42666033)_(42666265_?)del
|
|
|
|
NC_000006.11:g.(?_42666033)_(42672369_?)del
|
|
|
|
NC_000006.11:g.(?_42666033)_(42690072_?)del
|
|
|
|
NC_000006.11:g.(?_42672083)_(42672369_?)del
|
|
|
|
NC_000006.11:g.(?_42672083)_(42672369_?)dup
|
|
|
|
NC_000006.11:g.(?_42689472)_(42690072_?)del
|
|
|
|
NC_000006.11:g.(?_42689472)_(42690072_?)dup
|
|
|
|
NC_000006.11:g.(?_42689492)_(42690072_?)del
|
|
|
|
NC_000006.12:g.(?_42704365)_(42704611_?)del
|
|
|
|
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)
|
rs1799984208
|
|
|
NM_000322.5(PRPH2):c.1013_1014inv (p.Asp338Gly)
|
|
|
|
NM_000322.5(PRPH2):c.1013_1018del (p.Asp338_Ala339del)
|
|
|
|
NM_000322.5(PRPH2):c.1014C>T (p.Asp338=)
|
|
|
|
NM_000322.5(PRPH2):c.1015_1020dup (p.Ala339_Gly340dup)
|
rs1332561329
|
|
|
NM_000322.5(PRPH2):c.1020C>T (p.Gly340=)
|
rs2152003768
|
|
|
NM_000322.5(PRPH2):c.1024G>A (p.Ala342Thr)
|
rs1799983757
|
|
|
NM_000322.5(PRPH2):c.1033G>C (p.Ala345Pro)
|
rs1220298682
|
|
|
NM_000322.5(PRPH2):c.113del (p.Gly38fs)
|
rs61755769
|
|
|
NM_000322.5(PRPH2):c.115C>T (p.Leu39=)
|
|
|
|
NM_000322.5(PRPH2):c.121del (p.Phe40_Leu41insTer)
|
|
|
|
NM_000322.5(PRPH2):c.122T>C (p.Leu41Pro)
|
rs2152011091
|
|
|
NM_000322.5(PRPH2):c.12G>A (p.Leu4=)
|
rs2152011167
|
|
|
NM_000322.5(PRPH2):c.137G>A (p.Arg46Gln)
|
|
|
|
NM_000322.5(PRPH2):c.139A>G (p.Lys47Glu)
|
rs1562434309
|
|
|
NM_000322.5(PRPH2):c.141_222del (p.Arg48fs)
|
rs2152011045
|
|
|
NM_000322.5(PRPH2):c.148G>A (p.Asp50Asn)
|
|
|
|
NM_000322.5(PRPH2):c.148del (p.Asp50fs)
|
rs1761917626
|
|
|
NM_000322.5(PRPH2):c.163del (p.Ser55fs)
|
rs1761917286
|
|
|
NM_000322.5(PRPH2):c.171C>G (p.Ser57Arg)
|
rs1761917045
|
|
|
NM_000322.5(PRPH2):c.178del (p.Val60fs)
|
rs2152011068
|
|
|
NM_000322.5(PRPH2):c.181C>T (p.Pro61Ser)
|
|
|
|
NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg)
|
rs63749073
|
|
|
NM_000322.5(PRPH2):c.1A>G (p.Met1Val)
|
rs1761921867
|
|
|
NM_000322.5(PRPH2):c.1A>T (p.Met1Leu)
|
rs1761921867
|
|
|
NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg)
|
rs61755774
|
|
|
NM_000322.5(PRPH2):c.205del (p.Val69fs)
|
rs1761916286
|
|
|
NM_000322.5(PRPH2):c.205dup (p.Val69fs)
|
rs1761916286
|
|
|
NM_000322.5(PRPH2):c.208_217dup (p.Val73fs)
|
rs2152011046
|
|
|
NM_000322.5(PRPH2):c.215G>C (p.Cys72Ser)
|
rs375090109
|
|
|
NM_000322.5(PRPH2):c.216T>C (p.Cys72=)
|
|
|
|
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)
|
rs1203908646
|
|
|
NM_000322.5(PRPH2):c.228G>A (p.Ser76=)
|
|
|
|
NM_000322.5(PRPH2):c.228del (p.Leu77fs)
|
rs2152011039
|
|
|
NM_000322.5(PRPH2):c.237dup (p.Lys80fs)
|
rs1761915366
|
|
|
NM_000322.5(PRPH2):c.238A>T (p.Lys80Ter)
|
|
|
|
NM_000322.5(PRPH2):c.245G>T (p.Cys82Phe)
|
|
|
|
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)
|
rs1242862941
|
|
|
NM_000322.5(PRPH2):c.249C>A (p.Tyr83Ter)
|
|
|
|
NM_000322.5(PRPH2):c.252C>A (p.Asp84Glu)
|
rs139936445
|
|
|
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)
|
rs1554270834
|
|
|
NM_000322.5(PRPH2):c.265G>A (p.Ala89Thr)
|
|
|
|
NM_000322.5(PRPH2):c.269_270del (p.Lys90fs)
|
rs2152011015
|
|
|
NM_000322.5(PRPH2):c.274G>A (p.Ala92Thr)
|
|
|
|
NM_000322.5(PRPH2):c.282_286dup (p.Pro96fs)
|
rs2152011005
|
|
|
NM_000322.5(PRPH2):c.286C>T (p.Pro96Ser)
|
|
|
|
NM_000322.5(PRPH2):c.288del (p.Trp97fs)
|
|
|
|
NM_000322.5(PRPH2):c.290G>A (p.Trp97Ter)
|
rs1761913693
|
|
|
NM_000322.5(PRPH2):c.292C>A (p.Leu98Met)
|
rs1417128552
|
|
|
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)
|
rs121918565
|
|
|
NM_000322.5(PRPH2):c.302del (p.Tyr101fs)
|
rs2152011002
|
|
|
NM_000322.5(PRPH2):c.303C>A (p.Tyr101Ter)
|
|
|
|
NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)
|
rs1761913253
|
|
|
NM_000322.5(PRPH2):c.314G>A (p.Cys105Tyr)
|
rs2152010992
|
|
|
NM_000322.5(PRPH2):c.318del (p.Leu107fs)
|
rs1761913048
|
|
|
NM_000322.5(PRPH2):c.326A>G (p.Asn109Ser)
|
|
|
|
NM_000322.5(PRPH2):c.330del (p.Ile111fs)
|
|
|
|
NM_000322.5(PRPH2):c.336C>T (p.Leu112=)
|
|
|
|
NM_000322.5(PRPH2):c.346G>C (p.Ala116Pro)
|
rs140227298
|
|
|
NM_000322.5(PRPH2):c.347C>A (p.Ala116Asp)
|
rs1365796838
|
|
|
NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)
|
rs2152010976
|
|
|
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)
|
rs1761911206
|
|
|
NM_000322.5(PRPH2):c.389T>G (p.Leu130Arg)
|
rs1761911206
|
|
|
NM_000322.5(PRPH2):c.394del (p.Gln132fs)
|
rs769723975
|
|
|
NM_000322.5(PRPH2):c.397G>A (p.Gly133Arg)
|
rs768473101
|
|
|
NM_000322.5(PRPH2):c.399G>T (p.Gly133=)
|
|
|
|
NM_000322.5(PRPH2):c.401T>C (p.Leu134Pro)
|
rs1761910745
|
|
|
NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu)
|
rs1761910611
|
|
|
NM_000322.5(PRPH2):c.407del (p.Asn136fs)
|
|
|
|
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)
|
rs527236097
|
|
|
NM_000322.5(PRPH2):c.411C>T (p.Gly137=)
|
rs2152010958
|
|
|
NM_000322.5(PRPH2):c.411dup (p.Met138fs)
|
|
|
|
NM_000322.5(PRPH2):c.412A>T (p.Met138Leu)
|
rs771068866
|
|
|
NM_000322.5(PRPH2):c.413T>C (p.Met138Thr)
|
rs1761910137
|
|
|
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His)
|
rs61755780
|
|
|
NM_000322.5(PRPH2):c.421T>G (p.Tyr141Asp)
|
|
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
|
NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter)
|
rs2152010946
|
|
|
NM_000322.5(PRPH2):c.423C>G (p.Tyr141Ter)
|
|
|
|
NM_000322.5(PRPH2):c.435C>T (p.Asp145=)
|
|
|
|
NM_000322.5(PRPH2):c.440C>A (p.Pro147His)
|
rs2152010934
|
|
|
NM_000322.5(PRPH2):c.440dup (p.Gly148fs)
|
rs1426763534
|
|
|
NM_000322.5(PRPH2):c.441del (p.Gly148fs)
|
rs61755784
|
|
|
NM_000322.5(PRPH2):c.445A>G (p.Arg149Gly)
|
|
|
|
NM_000322.5(PRPH2):c.450T>A (p.Cys150Ter)
|
rs1761908800
|
|
|
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu)
|
rs2152010930
|
|
|
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)
|
rs61755785
|
|
|
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)
|
rs61755786
|
|
|
NM_000322.5(PRPH2):c.45G>T (p.Lys15Asn)
|
rs1761920330
|
|
|
NM_000322.5(PRPH2):c.461A>G (p.Lys154Arg)
|
|
|
|
NM_000322.5(PRPH2):c.465del (p.Ile156fs)
|
|
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
|
NM_000322.5(PRPH2):c.469G>C (p.Asp157His)
|
rs61755787
|
|
|
NM_000322.5(PRPH2):c.470A>G (p.Asp157Gly)
|
|
|
|
NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg)
|
rs1761907993
|
|
|
NM_000322.5(PRPH2):c.479A>C (p.Gln160Pro)
|
|
|
|
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)
|
rs76989855
|
|
|
NM_000322.5(PRPH2):c.483C>T (p.Ile161=)
|
rs76989855
|
|
|
NM_000322.5(PRPH2):c.484G>C (p.Glu162Gln)
|
|
|
|
NM_000322.5(PRPH2):c.484G>T (p.Glu162Ter)
|
|
|
|
NM_000322.5(PRPH2):c.48G>A (p.Leu16=)
|
rs1761920239
|
|
|
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg)
|
rs2152010916
|
|
|
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)
|
rs61755788
|
|
|
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)
|
rs61755788
|
|
|
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)
|
rs786205579
|
|
|
NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter)
|
rs759752477
|
|
|
NM_000322.5(PRPH2):c.498C>G (p.Cys166Trp)
|
rs759752477
|
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
|
|
NM_000322.5(PRPH2):c.4G>A (p.Ala2Thr)
|
rs1424831291
|
|
|
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)
|
rs61755789
|
|
|
NM_000322.5(PRPH2):c.500G>T (p.Gly167Val)
|
|
|
|
NM_000322.5(PRPH2):c.509del (p.Gly170fs)
|
rs2152010910
|
|
|
NM_000322.5(PRPH2):c.513dup (p.Arg172fs)
|
rs2152010904
|
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
|
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)
|
rs61755794
|
|
|
NM_000322.5(PRPH2):c.518del (p.Asp173fs)
|
rs2152010898
|
|
|
NM_000322.5(PRPH2):c.522G>A (p.Trp174Ter)
|
rs1064793237
|
|
|
NM_000322.5(PRPH2):c.527A>T (p.Glu176Val)
|
rs1761906163
|
|
|
NM_000322.5(PRPH2):c.52del (p.Gln18fs)
|
rs2152011142
|
|
|
NM_000322.5(PRPH2):c.530T>C (p.Ile177Thr)
|
rs748478593
|
|
|
NM_000322.5(PRPH2):c.531del (p.Gln178fs)
|
|
|
|
NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)
|
rs61755795
|
|
|
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)
|
rs61755796
|
|
|
NM_000322.5(PRPH2):c.537G>A (p.Trp179Ter)
|
rs779414078
|
|
|
NM_000322.5(PRPH2):c.542G>T (p.Ser181Ile)
|
|
|
|
NM_000322.5(PRPH2):c.548G>A (p.Arg183His)
|
rs960152679
|
|
|
NM_000322.5(PRPH2):c.548_551dup (p.Tyr184Ter)
|
|
|
|
NM_000322.5(PRPH2):c.54A>G (p.Gln18=)
|
|
|
|
NM_000322.5(PRPH2):c.553C>T (p.Leu185=)
|
rs2152010868
|
|
|
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn)
|
rs2152010859
|
|
|
NM_000322.5(PRPH2):c.557A>G (p.Asp186Gly)
|
rs2152010856
|
|
|
NM_000322.5(PRPH2):c.561T>A (p.Phe187Leu)
|
|
|
|
NM_000322.5(PRPH2):c.563C>T (p.Ser188Phe)
|
|
|
|
NM_000322.5(PRPH2):c.564C>T (p.Ser188=)
|
rs1398721260
|
|
|
NM_000322.5(PRPH2):c.568A>G (p.Lys190Glu)
|
rs1761905174
|
|
|
NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter)
|
rs2152010848
|
|
|
NM_000322.5(PRPH2):c.576C>T (p.Val192=)
|
rs1179674834
|
|
|
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs)
|
rs62645929
|
|
|
NM_000322.5(PRPH2):c.580G>C (p.Asp194His)
|
|
|
|
NM_000322.5(PRPH2):c.581+16T>C
|
|
|
|
NM_000322.5(PRPH2):c.581+1G>A
|
rs1761904690
|
|
|
NM_000322.5(PRPH2):c.581+1G>C
|
rs1761904690
|
|
|
NM_000322.5(PRPH2):c.581+5G>T
|
rs2152010844
|
|
|
NM_000322.5(PRPH2):c.581+6T>A
|
rs1761904652
|
|
|
NM_000322.5(PRPH2):c.581+6T>C
|
|
|
|
NM_000322.5(PRPH2):c.581+7G>C
|
rs1271192942
|
|
|
NM_000322.5(PRPH2):c.582-1G>A
|
rs1800118693
|
|
|
NM_000322.5(PRPH2):c.582-2A>G
|
|
|
|
NM_000322.5(PRPH2):c.582-7dup
|
|
|
|
NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu)
|
rs1331346375
|
|
|
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly)
|
rs1322278463
|
|
|
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)
|
rs1322278463
|
|
|
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)
|
rs121918567
|
|
|
NM_000322.5(PRPH2):c.584G>C (p.Arg195Pro)
|
rs121918567
|
|
|
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)
|
rs121918567
|
|
|
NM_000322.5(PRPH2):c.584_588del (p.Arg195fs)
|
rs1800118432
|
|
|
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)
|
rs62645931
|
|
|
NM_000322.5(PRPH2):c.591G>A (p.Lys197=)
|
rs1313800059
|
|
|
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp)
|
rs757988141
|
|
|
NM_000322.5(PRPH2):c.596A>G (p.Asn199Ser)
|
rs2152005399
|
|
|
NM_000322.5(PRPH2):c.597del (p.Asn199fs)
|
rs1800118044
|
|
|
NM_000322.5(PRPH2):c.599T>C (p.Val200Ala)
|
rs62645932
|
|
|
NM_000322.5(PRPH2):c.5C>T (p.Ala2Val)
|
|
|
|
NM_000322.5(PRPH2):c.601_602insGGCCCTCTCCCGTCTCCCTCTCCCTCTCCCGACTCCCACTCCCTCTCCCGTCTCCCTCACCCGCACCCGAAACCCACACCCGCTCCCTGATACAACTCCCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGCAACGTGG (p.Val200_Asp201insGlyProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProAlaProGluThrHisThrArgSerLeuIleGlnLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysSerAsnVal)
|
|
|
|
NM_000322.5(PRPH2):c.603_620del (p.Arg203_Gly208del)
|
rs1800116963
|
|
|
NM_000322.5(PRPH2):c.604G>T (p.Gly202Trp)
|
|
|
|
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)
|
rs1800117660
|
|
|
NM_000322.5(PRPH2):c.607C>A (p.Arg203=)
|
rs1800117573
|
|
|
NM_000322.5(PRPH2):c.607_619del (p.Arg203fs)
|
|
|
|
NM_000322.5(PRPH2):c.608G>A (p.Arg203Gln)
|
|
|
|
NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs)
|
rs281865372
|
|
|
NM_000322.5(PRPH2):c.610T>C (p.Tyr204His)
|
rs997283737
|
|
|
NM_000322.5(PRPH2):c.611A>G (p.Tyr204Cys)
|
|
|
|
NM_000322.5(PRPH2):c.611_617dup (p.Asp207fs)
|
rs1800117107
|
|
|
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)
|
rs1800116472
|
|
|
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)
|
rs1554269081
|
|
|
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)
|
rs1554269081
|
|
|
NM_000322.5(PRPH2):c.612C>T (p.Tyr204=)
|
|
|
|
NM_000322.5(PRPH2):c.613C>T (p.Leu205=)
|
|
|
|
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro)
|
rs1800117244
|
|
|
NM_000322.5(PRPH2):c.619_654dup (p.Ser218_Pro219insAspGlyValProPheSerCysCysAsnProSerSer)
|
|
|
|
NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly)
|
rs1800116925
|
|
|
NM_000322.5(PRPH2):c.621C>A (p.Asp207Glu)
|
|
|
|
NM_000322.5(PRPH2):c.622G>T (p.Gly208Cys)
|
rs901479607
|
|
|
NM_000322.5(PRPH2):c.623dup (p.Val209fs)
|
rs62641253
|
|
|
NM_000322.5(PRPH2):c.624C>T (p.Gly208=)
|
|
|
|
NM_000322.5(PRPH2):c.626T>A (p.Val209Asp)
|
rs1220783333
|
|
|
NM_000322.5(PRPH2):c.628C>G (p.Pro210Ala)
|
rs61755797
|
|
|
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)
|
rs61755797
|
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
|
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)
|
rs61755798
|
|
|
NM_000322.5(PRPH2):c.62G>A (p.Trp21Ter)
|
rs2152011135
|
|
|
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)
|
rs1800116126
|
|
|
NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)
|
rs2152005352
|
|
|
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)
|
rs61755799
|
|
|
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)
|
rs61755799
|
|
|
NM_000322.5(PRPH2):c.633_658del (p.Phe211fs)
|
rs2152005323
|
|
|
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)
|
rs61755800
|
|
|
NM_000322.5(PRPH2):c.635G>A (p.Ser212Asn)
|
|
|
|
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
|
rs61755801
|
|
|
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)
|
rs1554269071
|
|
|
NM_000322.5(PRPH2):c.637T>A (p.Cys213Ser)
|
|
|
|
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)
|
rs61755802
|
|
|
NM_000322.5(PRPH2):c.637T>G (p.Cys213Gly)
|
|
|
|
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)
|
rs61755803
|
|
|
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp)
|
rs1800115811
|
|
|
NM_000322.5(PRPH2):c.640T>C (p.Cys214Arg)
|
rs2152005343
|
|
|
NM_000322.5(PRPH2):c.641_652del (p.Cys214_Ser217del)
|
rs1800115217
|
|
|
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)
|
rs1388865786
|
|
|
NM_000322.5(PRPH2):c.643A>C (p.Asn215His)
|
rs2152005339
|
|
|
NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr)
|
rs2152005339
|
|
|
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala)
|
rs61755805
|
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
|
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs)
|
rs1800115494
|
|
|
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg)
|
rs61755806
|
|
|
NM_000322.5(PRPH2):c.649A>T (p.Ser217Cys)
|
|
|
|
NM_000322.5(PRPH2):c.651C>T (p.Ser217=)
|
|
|
|
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)
|
rs1582764878
|
|
|
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)
|
rs986748364
|
|
|
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)
|
rs986748364
|
|
|
NM_000322.5(PRPH2):c.654G>A (p.Ser218=)
|
|
|
|
NM_000322.5(PRPH2):c.654G>T (p.Ser218=)
|
rs373015247
|
|
|
NM_000322.5(PRPH2):c.654_655del (p.Pro219fs)
|
rs2152005328
|
|
|
NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)
|
|
|
|
NM_000322.5(PRPH2):c.657A>G (p.Pro219=)
|
|
|
|
NM_000322.5(PRPH2):c.657A>T (p.Pro219=)
|
rs951349581
|
|
|
NM_000322.5(PRPH2):c.658C>G (p.Arg220Gly)
|
|
|
|
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
|
rs61755809
|
|
|
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)
|
rs61755810
|
|
|
NM_000322.5(PRPH2):c.660G>A (p.Arg220=)
|
|
|
|
NM_000322.5(PRPH2):c.661C>G (p.Pro221Ala)
|
|
|
|
NM_000322.5(PRPH2):c.662C>G (p.Pro221Arg)
|
|
|
|
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu)
|
rs973931180
|
|
|
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)
|
rs1554269053
|
|
|
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)
|
rs1442844778
|
|
|
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser)
|
rs1442844778
|
|
|
NM_000322.5(PRPH2):c.666C>A (p.Cys222Ter)
|
|
|
|
NM_000322.5(PRPH2):c.670C>A (p.Gln224Lys)
|
rs2152005304
|
|
|
NM_000322.5(PRPH2):c.674A>G (p.Tyr225Cys)
|
|
|
|
NM_000322.5(PRPH2):c.677A>G (p.Gln226Arg)
|
|
|
|
NM_000322.5(PRPH2):c.680T>C (p.Ile227Thr)
|
|
|
|
NM_000322.5(PRPH2):c.681C>G (p.Ile227Met)
|
rs1800113865
|
|
|
NM_000322.5(PRPH2):c.685AAC[1] (p.Asn230del)
|
rs2152005289
|
|
|
NM_000322.5(PRPH2):c.68del (p.Met23fs)
|
|
|
|
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)
|
rs1554269046
|
|
|
NM_000322.5(PRPH2):c.694G>A (p.Ala232Thr)
|
|
|
|
NM_000322.5(PRPH2):c.695C>A (p.Ala232Glu)
|
rs1800113364
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NM_000322.5(PRPH2):c.698A>G (p.His233Arg)
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rs1800113326
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NM_000322.5(PRPH2):c.69G>A (p.Met23Ile)
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rs779326874
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NM_000322.5(PRPH2):c.6G>T (p.Ala2=)
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NM_000322.5(PRPH2):c.700T>C (p.Tyr234His)
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NM_000322.5(PRPH2):c.700del (p.Tyr234fs)
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rs1800113276
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NM_000322.5(PRPH2):c.701A>G (p.Tyr234Cys)
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NM_000322.5(PRPH2):c.702C>A (p.Tyr234Ter)
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rs2152005280
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NM_000322.5(PRPH2):c.703A>G (p.Ser235Gly)
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NM_000322.5(PRPH2):c.708C>A (p.Tyr236Ter)
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NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)
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rs61755813
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NM_000322.5(PRPH2):c.710_720del (p.Asp237fs)
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NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)
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rs61755814
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NM_000322.5(PRPH2):c.719del (p.Thr240fs)
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NM_000322.5(PRPH2):c.721G>T (p.Glu241Ter)
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rs2152005272
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NM_000322.5(PRPH2):c.721GAG[3] (p.Glu242dup)
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rs1800112015
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NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
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rs542296728
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NM_000322.5(PRPH2):c.731A>G (p.Asn244Ser)
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rs1582764714
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NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser)
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rs1582764697
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NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter)
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rs1800111659
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NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)
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rs1800111659
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NM_000322.5(PRPH2):c.740T>C (p.Val247Ala)
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NM_000322.5(PRPH2):c.746G>A (p.Gly249Asp)
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NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)
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rs1064793931
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NM_000322.5(PRPH2):c.749G>C (p.Cys250Ser)
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rs1458793437
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NM_000322.5(PRPH2):c.74G>A (p.Trp25Ter)
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NM_000322.5(PRPH2):c.750C>A (p.Cys250Ter)
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rs2152005243
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NM_000322.5(PRPH2):c.751_758del (p.Arg251fs)
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rs2152005235
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NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp)
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rs2152005234
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NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)
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rs1800110989
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NM_000322.5(PRPH2):c.763C>A (p.Leu255Met)
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rs1800110915
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NM_000322.5(PRPH2):c.765G>A (p.Leu255=)
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rs2152005227
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NM_000322.5(PRPH2):c.769T>C (p.Tyr257His)
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NM_000322.5(PRPH2):c.769_772dup (p.Tyr258fs)
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NM_000322.5(PRPH2):c.770A>G (p.Tyr257Cys)
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NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter)
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rs1800110757
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NM_000322.5(PRPH2):c.774C>G (p.Tyr258Ter)
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rs121918564
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NM_000322.5(PRPH2):c.776_777insTCT (p.Ser259_Ser260insLeu)
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rs2152005221
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NM_000322.5(PRPH2):c.782T>C (p.Leu261Pro)
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rs2152005217
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NM_000322.5(PRPH2):c.794T>A (p.Met265Lys)
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rs1582764600
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NM_000322.5(PRPH2):c.794T>C (p.Met265Thr)
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rs1582764600
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NM_000322.5(PRPH2):c.794_805del (p.Met265_Val268del)
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NM_000322.5(PRPH2):c.795G>C (p.Met265Ile)
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rs1377914950
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NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)
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rs62645935
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NM_000322.5(PRPH2):c.802G>A (p.Val268Ile)
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rs62645936
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NM_000322.5(PRPH2):c.802G>C (p.Val268Leu)
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rs62645936
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NM_000322.5(PRPH2):c.802G>T (p.Val268Phe)
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rs62645936
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NM_000322.5(PRPH2):c.803T>C (p.Val268Ala)
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NM_000322.5(PRPH2):c.806C>G (p.Thr269Arg)
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rs781212034
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NM_000322.5(PRPH2):c.807G>A (p.Thr269=)
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NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)
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rs1582764519
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NM_000322.5(PRPH2):c.809_810del (p.Leu270fs)
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rs1800109348
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NM_000322.5(PRPH2):c.810C>A (p.Leu270=)
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rs892751055
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NM_000322.5(PRPH2):c.810_828+9del
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rs2152005174
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NM_000322.5(PRPH2):c.811C>T (p.Leu271Phe)
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NM_000322.5(PRPH2):c.811_822del (p.Leu271_Leu274del)
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NM_000322.5(PRPH2):c.811del (p.Leu271fs)
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rs1582764528
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NM_000322.5(PRPH2):c.813C>T (p.Leu271=)
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rs367862962
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NM_000322.5(PRPH2):c.816T>C (p.Ile272=)
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NM_000322.5(PRPH2):c.821T>G (p.Leu274Arg)
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NM_000322.5(PRPH2):c.823T>C (p.Phe275Leu)
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rs1359326125
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NM_000322.5(PRPH2):c.826G>C (p.Glu276Gln)
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rs751900290
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NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter)
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rs751900290
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NM_000322.5(PRPH2):c.828+10G>A
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NM_000322.5(PRPH2):c.828+12G>A
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NM_000322.5(PRPH2):c.828+15A>C
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rs1472086318
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NM_000322.5(PRPH2):c.828+19G>T
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rs753117002
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NM_000322.5(PRPH2):c.828+1G>A
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rs1800108516
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NM_000322.5(PRPH2):c.828+1G>T
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rs1800108516
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NM_000322.5(PRPH2):c.828+20G>C
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NM_000322.5(PRPH2):c.828+2T>C
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rs1800108496
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NM_000322.5(PRPH2):c.828+3A>G
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rs281865373
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NM_000322.5(PRPH2):c.828+5G>A
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NM_000322.5(PRPH2):c.828+5G>T
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NM_000322.5(PRPH2):c.828G>C (p.Glu276Asp)
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NM_000322.5(PRPH2):c.829-18C>T
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NM_000322.5(PRPH2):c.829-1G>A
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rs1582759782
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NM_000322.5(PRPH2):c.829-1_835del
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NM_000322.5(PRPH2):c.829-3C>G
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rs1799990150
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NM_000322.5(PRPH2):c.829-4C>G
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rs1582759785
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NM_000322.5(PRPH2):c.829-6C>T
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rs1799990208
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NM_000322.5(PRPH2):c.82G>A (p.Val28Met)
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NM_000322.5(PRPH2):c.835A>C (p.Ile279Leu)
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rs773951621
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NM_000322.5(PRPH2):c.851G>C (p.Arg284Pro)
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rs962365465
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NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)
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rs62645938
|
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NM_000322.5(PRPH2):c.858del (p.Gln287fs)
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NM_000322.5(PRPH2):c.860_867del (p.Gln287fs)
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rs1554268546
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NM_000322.5(PRPH2):c.863C>T (p.Thr288Met)
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rs1016933713
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NM_000322.5(PRPH2):c.864G>A (p.Thr288=)
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NM_000322.5(PRPH2):c.868_869del (p.Leu290fs)
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rs2152003863
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NM_000322.5(PRPH2):c.882C>T (p.Ser294=)
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NM_000322.5(PRPH2):c.897dup (p.Glu300Ter)
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NM_000322.5(PRPH2):c.903C>T (p.Ser301=)
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rs754337687
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NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)
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rs1799988458
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NM_000322.5(PRPH2):c.909_910delinsTG (p.Gln304Glu)
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rs1582759657
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NM_000322.5(PRPH2):c.90_93del (p.Gly31fs)
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rs2152011112
|
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NM_000322.5(PRPH2):c.910C>A (p.Gln304Lys)
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NM_000322.5(PRPH2):c.910C>T (p.Gln304Ter)
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rs390659
|
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NM_000322.5(PRPH2):c.911A>G (p.Gln304Arg)
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NM_000322.5(PRPH2):c.912_913insAGCGAG (p.Gln304_Gly305insSerGlu)
|
rs1377137374
|
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NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)
|
rs61748432
|
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NM_000322.5(PRPH2):c.914del (p.Gly305fs)
|
rs2152003847
|
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NM_000322.5(PRPH2):c.920T>C (p.Leu307Pro)
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rs2152003843
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NM_000322.5(PRPH2):c.920del (p.Leu307fs)
|
rs61748433
|
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NM_000322.5(PRPH2):c.924G>C (p.Leu308=)
|
rs775059514
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NM_000322.5(PRPH2):c.928_929delinsGA (p.Arg310Glu)
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NM_000322.5(PRPH2):c.92G>T (p.Gly31Val)
|
rs886061404
|
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NM_000322.5(PRPH2):c.932G>C (p.Ser311Thr)
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NM_000322.5(PRPH2):c.933C>A (p.Ser311Arg)
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NM_000322.5(PRPH2):c.933C>T (p.Ser311=)
|
rs137853904
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NM_000322.5(PRPH2):c.934G>A (p.Val312Met)
|
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NM_000322.5(PRPH2):c.935_939dup (p.Glu314fs)
|
rs1799986394
|
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NM_000322.5(PRPH2):c.936del (p.Pro313fs)
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NM_000322.5(PRPH2):c.937_938del (p.Pro313fs)
|
rs1799986489
|
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NM_000322.5(PRPH2):c.938C>A (p.Pro313Gln)
|
rs61748434
|
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NM_000322.5(PRPH2):c.939G>A (p.Pro313=)
|
rs1052492384
|
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NM_000322.5(PRPH2):c.939G>T (p.Pro313=)
|
rs1052492384
|
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NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)
|
rs1554268521
|
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NM_000322.5(PRPH2):c.948del (p.Thr315_Trp316insTer)
|
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NM_000322.5(PRPH2):c.954_955del (p.Phe319fs)
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NM_000322.5(PRPH2):c.963G>A (p.Glu321=)
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NM_000322.5(PRPH2):c.964_965del (p.Ser322fs)
|
rs1799985749
|
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NM_000322.5(PRPH2):c.96dup (p.Ile33fs)
|
rs61755768
|
|
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NM_000322.5(PRPH2):c.970AAG[1] (p.Lys325del)
|
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NM_000322.5(PRPH2):c.975G>C (p.Lys325Asn)
|
rs756613766
|
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NM_000322.5(PRPH2):c.978G>A (p.Leu326=)
|
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NM_000322.5(PRPH2):c.989A>G (p.Asn330Ser)
|
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NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter)
|
rs281865375
|
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NM_000322.5(PRPH2):c.991del (p.Gln331fs)
|
rs2152003795
|
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NM_000322.5(PRPH2):c.993G>A (p.Gln331=)
|
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NM_000322.5(PRPH2):c.994G>A (p.Val332Met)
|
rs1799985104
|
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NM_000322.5(PRPH2):c.994del (p.Val332fs)
|
rs2152003792
|
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NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)
|
rs1582759492
|
|