NM_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
NM_015272.5(RPGRIP1L):c.2959-32G>A
|
rs7203525
|
0.39281
|
NM_015272.5(RPGRIP1L):c.*737T>G
|
rs3760008
|
0.37956
|
NM_015272.5(RPGRIP1L):c.*55T>A
|
rs4784319
|
0.37955
|
NM_015272.5(RPGRIP1L):c.*1693G>A
|
rs1946155
|
0.37946
|
NM_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
NM_015272.5(RPGRIP1L):c.3432+67G>A
|
rs113961478
|
0.19784
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_015272.5(RPGRIP1L):c.530-29G>A
|
rs74393433
|
0.04932
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_015272.5(RPGRIP1L):c.2959-15T>C
|
rs11863101
|
0.01368
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_015272.5(RPGRIP1L):c.*491C>G
|
rs35669682
|
0.00564
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_015272.5(RPGRIP1L):c.*1627G>A
|
rs188203905
|
0.00522
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr)
|
rs148773489
|
0.00266
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_015272.5(RPGRIP1L):c.*1385A>G
|
rs150194508
|
0.00201
|
NM_015272.5(RPGRIP1L):c.*1461A>T
|
rs184079732
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)
|
rs74957591
|
0.00118
|
NM_015272.5(RPGRIP1L):c.*1482G>A
|
rs192765976
|
0.00108
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_015272.5(RPGRIP1L):c.3701+19A>C
|
rs199926524
|
0.00099
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
|
rs79524027
|
0.00092
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_015272.5(RPGRIP1L):c.*1510G>A
|
rs140374059
|
0.00079
|
NM_015272.5(RPGRIP1L):c.3300C>T (p.Leu1100=)
|
rs190706759
|
0.00077
|
NM_015272.5(RPGRIP1L):c.3313G>A (p.Gly1105Arg)
|
rs528501990
|
0.00070
|
NM_015272.5(RPGRIP1L):c.*1309C>A
|
rs145688896
|
0.00068
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)
|
rs151212590
|
0.00060
|
NM_015272.5(RPGRIP1L):c.*1584G>T
|
rs151226475
|
0.00057
|
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)
|
rs142317242
|
0.00052
|
NM_015272.5(RPGRIP1L):c.-62C>T
|
rs562413151
|
0.00048
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr)
|
rs919333754
|
0.00046
|
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)
|
rs144023021
|
0.00042
|
NM_015272.5(RPGRIP1L):c.*270G>A
|
rs549065732
|
0.00039
|
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val)
|
rs143515432
|
0.00038
|
NM_015272.5(RPGRIP1L):c.*532T>C
|
rs184520009
|
0.00037
|
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
|
rs143863631
|
0.00033
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
NM_015272.5(RPGRIP1L):c.*1033G>A
|
rs145688122
|
0.00032
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)
|
rs11860753
|
0.00030
|
NM_015272.5(RPGRIP1L):c.3702-16A>G
|
rs372739127
|
0.00030
|
NM_015272.5(RPGRIP1L):c.165G>A (p.Leu55=)
|
rs138048667
|
0.00029
|
NM_015272.5(RPGRIP1L):c.*851C>A
|
rs138437010
|
0.00026
|
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
|
rs147734438
|
0.00026
|
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val)
|
rs147046186
|
0.00026
|
NM_015272.5(RPGRIP1L):c.*698T>C
|
rs545786772
|
0.00025
|
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=)
|
rs144924117
|
0.00025
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_015272.5(RPGRIP1L):c.*506T>G
|
rs778362441
|
0.00022
|
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys)
|
rs375776718
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
0.00021
|
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)
|
rs201248643
|
0.00021
|
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)
|
rs202149647
|
0.00021
|
NM_015272.5(RPGRIP1L):c.3221-19C>T
|
rs372929131
|
0.00017
|
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)
|
rs140241814
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_015272.5(RPGRIP1L):c.612C>T (p.Ala204=)
|
rs373750629
|
0.00016
|
NM_015272.5(RPGRIP1L):c.481C>T (p.Arg161Cys)
|
rs374860980
|
0.00015
|
NM_015272.5(RPGRIP1L):c.*332T>G
|
rs544840421
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)
|
rs141201084
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)
|
rs111459222
|
0.00014
|
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile)
|
rs141838831
|
0.00014
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
NM_015272.5(RPGRIP1L):c.2874+8T>C
|
rs371853408
|
0.00013
|
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)
|
rs375774377
|
0.00012
|
NM_015272.5(RPGRIP1L):c.960G>A (p.Gln320=)
|
rs148808566
|
0.00012
|
NM_015272.5(RPGRIP1L):c.*588A>G
|
rs894081042
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1029+10C>A
|
rs542635220
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)
|
rs376720589
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile)
|
rs138383101
|
0.00011
|
NM_015272.5(RPGRIP1L):c.2304G>A (p.Ser768=)
|
rs770503381
|
0.00011
|
NM_015272.5(RPGRIP1L):c.3430C>G (p.Gln1144Glu)
|
rs1050777749
|
0.00011
|
NM_015272.5(RPGRIP1L):c.*1207G>A
|
rs561880798
|
0.00010
|
NM_015272.5(RPGRIP1L):c.111G>A (p.Lys37=)
|
rs774172381
|
0.00010
|
NM_015272.5(RPGRIP1L):c.2683+7C>T
|
rs768922800
|
0.00010
|
NM_015272.5(RPGRIP1L):c.2898A>G (p.Gln966=)
|
rs1349302634
|
0.00010
|
NM_015272.5(RPGRIP1L):c.*1883C>G
|
rs886052086
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val)
|
rs140876280
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn)
|
rs769686672
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)
|
rs149781516
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln)
|
rs560144848
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2105A>G (p.Glu702Gly)
|
rs193282093
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp)
|
rs373201651
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)
|
rs367845452
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile)
|
rs892392514
|
0.00008
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
NM_015272.5(RPGRIP1L):c.389A>G (p.Lys130Arg)
|
rs765642149
|
0.00008
|
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly)
|
rs547718820
|
0.00008
|
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His)
|
rs369451829
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala)
|
rs750235612
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn)
|
rs138777811
|
0.00007
|
NM_015272.5(RPGRIP1L):c.*1276G>A
|
rs375800554
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*418G>A
|
rs886052090
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*901A>G
|
rs750903762
|
0.00006
|
NM_015272.5(RPGRIP1L):c.*980T>C
|
rs886052087
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1071T>A (p.Leu357=)
|
rs549925964
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)
|
rs760245904
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro)
|
rs150099624
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1397T>C (p.Ile466Thr)
|
rs199786347
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=)
|
rs149464542
|
0.00006
|
NM_015272.5(RPGRIP1L):c.279G>C (p.Glu93Asp)
|
rs762264695
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn)
|
rs766943204
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3544C>G (p.Pro1182Ala)
|
rs61742648
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3832G>A (p.Asp1278Asn)
|
rs370655253
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3857G>T (p.Gly1286Val)
|
rs755820734
|
0.00006
|
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys)
|
rs527539036
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1029+3A>C
|
rs778583149
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)
|
rs76600508
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)
|
rs139964287
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)
|
rs532412372
|
0.00005
|
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=)
|
rs143189638
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_015272.5(RPGRIP1L):c.3701+14G>A
|
rs370009233
|
0.00005
|
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu)
|
rs141574764
|
0.00005
|
NM_015272.5(RPGRIP1L):c.883-7C>A
|
rs372349467
|
0.00005
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1029+12A>G
|
rs374781718
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1029+19T>C
|
rs370612492
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly)
|
rs752128105
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1104-13G>A
|
rs775179294
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1244-18G>A
|
rs923409583
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=)
|
rs376335724
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1375T>C (p.Leu459=)
|
rs766752672
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1401+4A>G
|
rs727503880
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1448T>C (p.Val483Ala)
|
rs146565951
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1582-11T>G
|
rs182981308
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly)
|
rs794727129
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1628A>G (p.Asp543Gly)
|
rs776600721
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1699+11T>C
|
rs189805541
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln)
|
rs902687917
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
|
rs374098422
|
0.00004
|
NM_015272.5(RPGRIP1L):c.201T>C (p.His67=)
|
rs762755851
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val)
|
rs769280712
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=)
|
rs145807002
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)
|
rs371763050
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3061-18G>A
|
rs1231406468
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)
|
rs201413825
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)
|
rs750930363
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)
|
rs989489575
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3739G>A (p.Glu1247Lys)
|
rs201312119
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3903C>T (p.Ala1301=)
|
rs773361667
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)
|
rs121918197
|
0.00004
|
NM_015272.5(RPGRIP1L):c.709A>T (p.Arg237Trp)
|
rs369055168
|
0.00004
|
NM_015272.5(RPGRIP1L):c.*119C>T
|
rs886052091
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1103+7C>T
|
rs761579460
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1104-14C>T
|
rs763897513
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)
|
rs750446830
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1351-7A>G
|
rs559918716
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1393C>T (p.Leu465Phe)
|
rs758403877
|
0.00003
|
NM_015272.5(RPGRIP1L):c.140G>A (p.Arg47His)
|
rs773558676
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala)
|
rs202201818
|
0.00003
|
NM_015272.5(RPGRIP1L):c.167G>A (p.Arg56His)
|
rs374157187
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys)
|
rs766404857
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1816C>G (p.Leu606Val)
|
rs552056656
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
|
rs145572901
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2103C>T (p.His701=)
|
rs540930741
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2104G>A (p.Glu702Lys)
|
rs199975230
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg)
|
rs780023355
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2262G>A (p.Gly754=)
|
rs775616241
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2397C>T (p.Cys799=)
|
rs758547965
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2403C>T (p.His801=)
|
rs1390109484
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2425C>G (p.Leu809Val)
|
rs370180090
|
0.00003
|
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp)
|
rs770098954
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2542A>G (p.Met848Val)
|
rs767112083
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2806A>G (p.Ile936Val)
|
rs763369161
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2875-19A>G
|
rs370091137
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3013A>G (p.Ile1005Val)
|
rs780310164
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3202G>A (p.Glu1068Lys)
|
rs771457754
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)
|
rs372404481
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys)
|
rs1030543863
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3433-8T>G
|
rs757913656
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=)
|
rs762140481
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met)
|
rs142387463
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)
|
rs536037779
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)
|
rs377402117
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3920A>G (p.Lys1307Arg)
|
rs139246920
|
0.00003
|
NM_015272.5(RPGRIP1L):c.529+17G>A
|
rs754295905
|
0.00003
|
NM_015272.5(RPGRIP1L):c.530-7T>C
|
rs780569188
|
0.00003
|
NM_015272.5(RPGRIP1L):c.663G>T (p.Gln221His)
|
rs776104875
|
0.00003
|
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)
|
rs151174849
|
0.00003
|
NM_015272.5(RPGRIP1L):c.776+13A>C
|
rs772348382
|
0.00003
|
NM_015272.5(RPGRIP1L):c.840T>C (p.Asn280=)
|
rs781135802
|
0.00003
|
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr)
|
rs772520453
|
0.00003
|
NM_015272.5(RPGRIP1L):c.*1206C>T
|
rs1437795784
|
0.00002
|
NM_015272.5(RPGRIP1L):c.*822A>G
|
rs554221378
|
0.00002
|
NM_015272.5(RPGRIP1L):c.-7-10T>C
|
rs886052099
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1335A>T (p.Ile445=)
|
rs778962353
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1392A>G (p.Leu464=)
|
rs773395675
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)
|
rs371028848
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)
|
rs966605945
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)
|
rs201131571
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr)
|
rs377035693
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1881A>G (p.Lys627=)
|
rs774731949
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1952T>C (p.Leu651Pro)
|
rs752598081
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2038C>T (p.Leu680Phe)
|
rs758370789
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=)
|
rs778885314
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)
|
rs759934290
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser)
|
rs565152814
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter)
|
rs267604575
|
0.00002
|
NM_015272.5(RPGRIP1L):c.231-13A>G
|
rs1030566201
|
0.00002
|
NM_015272.5(RPGRIP1L):c.231-15T>G
|
rs762320051
|
0.00002
|
NM_015272.5(RPGRIP1L):c.231-4C>A
|
rs774628905
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2629A>G (p.Ile877Val)
|
rs779895977
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2677A>T (p.Ile893Phe)
|
rs748601161
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2757T>C (p.Ala919=)
|
rs758167588
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs)
|
rs778824093
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2814C>T (p.Ser938=)
|
rs192512050
|
0.00002
|
NM_015272.5(RPGRIP1L):c.281G>A (p.Arg94Gln)
|
rs549881475
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2850A>G (p.Ala950=)
|
rs752095514
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2875-15G>T
|
rs749908163
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2877A>G (p.Ala959=)
|
rs753020103
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2958+9T>A
|
rs920679699
|
0.00002
|
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)
|
rs146484603
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3141A>C (p.Leu1047=)
|
rs1313737236
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3206A>G (p.Asp1069Gly)
|
rs200726671
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3220+1G>A
|
rs969617857
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3274A>G (p.Ile1092Val)
|
rs1965837844
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3294+13A>G
|
rs756969381
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3335T>A (p.Ile1112Asn)
|
rs986384855
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln)
|
rs376330325
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3625G>A (p.Val1209Met)
|
rs373993184
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3777C>T (p.His1259=)
|
rs750716320
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3835+3A>G
|
rs769218955
|
0.00002
|
NM_015272.5(RPGRIP1L):c.494A>G (p.Asn165Ser)
|
rs749282106
|
0.00002
|
NM_015272.5(RPGRIP1L):c.529+16C>T
|
rs765320880
|
0.00002
|
NM_015272.5(RPGRIP1L):c.634G>C (p.Glu212Gln)
|
rs766043636
|
0.00002
|
NM_015272.5(RPGRIP1L):c.654A>G (p.Gln218=)
|
rs1404574894
|
0.00002
|
NM_015272.5(RPGRIP1L):c.659G>A (p.Gly220Asp)
|
rs139259555
|
0.00002
|
NM_015272.5(RPGRIP1L):c.85G>A (p.Glu29Lys)
|
rs771740102
|
0.00002
|
NM_015272.5(RPGRIP1L):c.882+8G>A
|
rs773501615
|
0.00002
|
NM_015272.5(RPGRIP1L):c.*107G>A
|
rs770837632
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*1597G>A
|
rs1963334195
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*1869A>G
|
rs1224541215
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*262G>A
|
rs563237818
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*269C>T
|
rs190566840
|
0.00001
|
NM_015272.5(RPGRIP1L):c.*53G>A
|
rs1963400312
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1000A>G (p.Met334Val)
|
rs1182455258
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe)
|
rs747867189
|
0.00001
|
NM_015272.5(RPGRIP1L):c.101G>A (p.Arg34Gln)
|
rs761513762
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1029+8C>T
|
rs367844249
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1030-8C>T
|
rs907172288
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1030-9T>C
|
rs779543814
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln)
|
rs758759988
|
0.00001
|
NM_015272.5(RPGRIP1L):c.106A>G (p.Met36Val)
|
rs867836079
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1092A>G (p.Lys364=)
|
rs766514324
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1095T>C (p.Leu365=)
|
rs201763037
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1103+5A>G
|
rs773167560
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1128G>A (p.Glu376=)
|
rs779375492
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn)
|
rs949199630
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1150C>G (p.Gln384Glu)
|
rs1968112121
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1155G>C (p.Leu385=)
|
rs536376284
|
0.00001
|
NM_015272.5(RPGRIP1L):c.116G>A (p.Arg39His)
|
rs886042345
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1176C>T (p.Leu392=)
|
rs759115653
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1190A>C (p.Lys397Thr)
|
rs571212511
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1203A>G (p.Thr401=)
|
rs1158246946
|
0.00001
|
NM_015272.5(RPGRIP1L):c.122C>T (p.Ala41Val)
|
rs1365531088
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1257A>T (p.Lys419Asn)
|
rs976533506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu)
|
rs770032567
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1311A>G (p.Gln437=)
|
rs1033613104
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn)
|
rs777834264
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1330C>T (p.Arg444Cys)
|
rs1296403401
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1338A>G (p.Lys446=)
|
rs754700219
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1351-11A>G
|
rs750076702
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1376T>G (p.Leu459Trp)
|
rs1430832205
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1402-13T>G
|
rs940616503
|
0.00001
|
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp)
|
rs377512064
|
0.00001
|
NM_015272.5(RPGRIP1L):c.147A>G (p.Glu49=)
|
rs748560707
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1483A>G (p.Met495Val)
|
rs781046784
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter)
|
rs756821449
|
0.00001
|
NM_015272.5(RPGRIP1L):c.149del (p.Leu50fs)
|
rs1200063571
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly)
|
rs371841392
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1581+10T>C
|
rs775724713
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1582-7T>G
|
rs887053497
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1610T>C (p.Met537Thr)
|
rs752785301
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe)
|
rs147331527
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter)
|
rs1676833644
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg)
|
rs772900011
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn)
|
rs145516192
|
0.00001
|
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)
|
rs755258407
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
|
rs781713688
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1700-1G>A
|
rs1057520790
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1700-7C>T
|
rs1211017142
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val)
|
rs553739434
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1748C>G (p.Pro583Arg)
|
rs548348340
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1755C>A (p.Ile585=)
|
rs767506927
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)
|
rs775017742
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp)
|
rs537925312
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=)
|
rs375766769
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=)
|
rs779429646
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1840G>C (p.Val614Leu)
|
rs750811808
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1863A>G (p.Leu621=)
|
rs765009772
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro)
|
rs776297522
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1895T>G (p.Phe632Cys)
|
rs1381232476
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1902C>T (p.Thr634=)
|
rs138097384
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1905T>G (p.Tyr635Ter)
|
rs1353551542
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1936C>T (p.Pro646Ser)
|
rs1442222835
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=)
|
rs532450170
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter)
|
rs751477523
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1950C>T (p.Gly650=)
|
rs371258046
|
0.00001
|
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)
|
rs550006406
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)
|
rs201737322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1990C>G (p.His664Asp)
|
rs763167296
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile)
|
rs532768944
|
0.00001
|
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys)
|
rs775007896
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2078T>C (p.Ile693Thr)
|
rs766197081
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)
|
rs201081228
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2096A>G (p.Lys699Arg)
|
rs764289143
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2120G>T (p.Ser707Ile)
|
rs151281974
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2121C>T (p.Ser707=)
|
rs771201854
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2153-6T>C
|
rs371576599
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)
|
rs117364872
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)
|
rs768672275
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2299C>T (p.Gln767Ter)
|
rs1326042797
|
0.00001
|
NM_015272.5(RPGRIP1L):c.230+1G>A
|
rs786204135
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)
|
rs1338012833
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2304+1G>T
|
rs746451396
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2316A>G (p.Gln772=)
|
rs1013531093
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)
|
rs771545136
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2337C>T (p.Leu779=)
|
rs1966519480
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys)
|
rs1196015536
|
0.00001
|
NM_015272.5(RPGRIP1L):c.235G>A (p.Ala79Thr)
|
rs763182141
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2364C>T (p.Asn788=)
|
rs746197640
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg)
|
rs1966513057
|
0.00001
|
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=)
|
rs368894452
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=)
|
rs794727193
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=)
|
rs770299101
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2454G>A (p.Lys818=)
|
rs747445819
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs)
|
rs771129715
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg)
|
rs752772082
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2476G>A (p.Asp826Asn)
|
rs746015353
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2519A>G (p.Asp840Gly)
|
rs949487941
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)
|
rs766357656
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2535A>G (p.Pro845=)
|
rs1357658306
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2571G>C (p.Lys857Asn)
|
rs149833407
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys)
|
rs768030202
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2582dup (p.Ser862fs)
|
rs779776673
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2583G>T (p.Leu861=)
|
rs566547156
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2586T>C (p.Ser862=)
|
rs771569223
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)
|
rs1480250597
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2613C>A (p.Thr871=)
|
rs748285506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2640C>T (p.Val880=)
|
rs767271797
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2649T>C (p.Pro883=)
|
rs1417235196
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2666A>G (p.His889Arg)
|
rs1228542037
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2672G>A (p.Arg891Lys)
|
rs200531735
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2684-7T>C
|
rs745815763
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2694G>A (p.Glu898=)
|
rs774787183
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2700A>G (p.Thr900=)
|
rs768724944
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2709A>G (p.Gln903=)
|
rs1412609114
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2723G>A (p.Gly908Asp)
|
rs1478290807
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala)
|
rs374694596
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2817A>G (p.Glu939=)
|
rs1966207157
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=)
|
rs754686404
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=)
|
rs556719572
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2875-17T>G
|
rs755648829
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2875-7G>A
|
rs778196818
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2878C>T (p.Pro960Ser)
|
rs1187280209
|
0.00001
|
NM_015272.5(RPGRIP1L):c.291C>T (p.Gly97=)
|
rs765369037
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2931C>T (p.Phe977=)
|
rs761869488
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2946A>G (p.Pro982=)
|
rs1254751869
|
0.00001
|
NM_015272.5(RPGRIP1L):c.297C>T (p.Pro99=)
|
rs771166557
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=)
|
rs1165700039
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3051T>C (p.His1017=)
|
rs762829599
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3089T>C (p.Val1030Ala)
|
rs1965937862
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3099T>C (p.Asn1033=)
|
rs1309372176
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
|
rs780672507
|
0.00001
|
NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter)
|
rs547189939
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)
|
rs181022346
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
|
rs1456208953
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3132G>A (p.Val1044=)
|
rs201711256
|
0.00001
|
NM_015272.5(RPGRIP1L):c.316G>A (p.Val106Met)
|
rs1970438037
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)
|
rs371616177
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3210G>A (p.Leu1070=)
|
rs375177321
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3220+17A>C
|
rs1204073957
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3221-2A>G
|
rs200448428
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3255C>A (p.Asp1085Glu)
|
rs1965840419
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3263T>G (p.Ile1088Ser)
|
rs1185071339
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3271C>A (p.Pro1091Thr)
|
rs1436900505
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3295-9T>G
|
rs1406378943
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr)
|
rs539084201
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3330C>T (p.Ser1110=)
|
rs1304423187
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3333G>A (p.Ala1111=)
|
rs1017593402
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3356G>A (p.Arg1119His)
|
rs1207253947
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3432+6T>G
|
rs543688285
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)
|
rs886038619
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3475A>G (p.Asn1159Asp)
|
rs774549370
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3491C>T (p.Thr1164Ile)
|
rs745796721
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn)
|
rs746806282
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3516G>A (p.Leu1172=)
|
rs1388851938
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3530G>A (p.Arg1177Gln)
|
rs754491479
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)
|
rs905516252
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3545C>T (p.Pro1182Leu)
|
rs1446510817
|
0.00001
|
NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=)
|
rs1253988919
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3611G>A (p.Ser1204Asn)
|
rs746750855
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3616+9G>T
|
rs934455196
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3617-10T>C
|
rs766297944
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3617-2A>G
|
rs781683750
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3617-3T>C
|
rs1964004072
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3670A>G (p.Ile1224Val)
|
rs778319575
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3673C>T (p.Leu1225=)
|
rs1189160289
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3701+12C>A
|
rs931566897
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3701+3A>G
|
rs188594966
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3701+4T>C
|
rs767564258
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3714C>T (p.Thr1238=)
|
rs538306358
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)
|
rs1239622461
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3764T>C (p.Ile1255Thr)
|
rs749664648
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3768C>T (p.Gly1256=)
|
rs780364836
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile)
|
rs781401167
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3783C>T (p.Asp1261=)
|
rs1245403227
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys)
|
rs1963624413
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr)
|
rs764832127
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3819T>G (p.Ile1273Met)
|
rs1244061656
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg)
|
rs776310931
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3828T>C (p.Asn1276=)
|
rs1432386308
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3831C>T (p.Ile1277=)
|
rs760294595
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3836-15C>A
|
rs777880156
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3836-20T>C
|
rs1399609128
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=)
|
rs201132156
|
0.00001
|
NM_015272.5(RPGRIP1L):c.386T>A (p.Leu129His)
|
rs927281262
|
0.00001
|
NM_015272.5(RPGRIP1L):c.387C>T (p.Leu129=)
|
rs752951179
|
0.00001
|
NM_015272.5(RPGRIP1L):c.393C>T (p.Asn131=)
|
rs759792690
|
0.00001
|
NM_015272.5(RPGRIP1L):c.446C>T (p.Pro149Leu)
|
rs1406955571
|
0.00001
|
NM_015272.5(RPGRIP1L):c.480G>A (p.Gly160=)
|
rs766853230
|
0.00001
|
NM_015272.5(RPGRIP1L):c.489A>G (p.Lys163=)
|
rs1352245119
|
0.00001
|
NM_015272.5(RPGRIP1L):c.48T>C (p.Asp16=)
|
rs1046124483
|
0.00001
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
NM_015272.5(RPGRIP1L):c.510A>G (p.Leu170=)
|
rs750991343
|
0.00001
|
NM_015272.5(RPGRIP1L):c.582A>G (p.Thr194=)
|
rs924608253
|
0.00001
|
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)
|
rs769611947
|
0.00001
|
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val)
|
rs1167981125
|
0.00001
|
NM_015272.5(RPGRIP1L):c.632+9T>C
|
rs1970128165
|
0.00001
|
NM_015272.5(RPGRIP1L):c.639C>T (p.Asn213=)
|
rs376808910
|
0.00001
|
NM_015272.5(RPGRIP1L):c.63C>G (p.Leu21=)
|
rs200723710
|
0.00001
|
NM_015272.5(RPGRIP1L):c.642T>G (p.Val214=)
|
rs1970032678
|
0.00001
|
NM_015272.5(RPGRIP1L):c.643A>G (p.Ile215Val)
|
rs930198445
|
0.00001
|
NM_015272.5(RPGRIP1L):c.672G>A (p.Glu224=)
|
rs1253337508
|
0.00001
|
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=)
|
rs1266143274
|
0.00001
|
NM_015272.5(RPGRIP1L):c.711G>A (p.Arg237=)
|
rs371710677
|
0.00001
|
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)
|
rs990678342
|
0.00001
|
NM_015272.5(RPGRIP1L):c.728T>C (p.Ile243Thr)
|
rs766117001
|
0.00001
|
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His)
|
rs1970020650
|
0.00001
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
NM_015272.5(RPGRIP1L):c.777-4G>A
|
rs374490708
|
0.00001
|
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln)
|
rs916661298
|
0.00001
|
NM_015272.5(RPGRIP1L):c.78G>A (p.Gly26=)
|
rs1276297529
|
0.00001
|
NM_015272.5(RPGRIP1L):c.867T>C (p.Phe289=)
|
rs1178591734
|
0.00001
|
NM_015272.5(RPGRIP1L):c.882+12A>G
|
rs1264347960
|
0.00001
|
NM_015272.5(RPGRIP1L):c.909C>T (p.His303=)
|
rs1313242175
|
0.00001
|
NM_015272.5(RPGRIP1L):c.936A>G (p.Glu312=)
|
rs1454166907
|
0.00001
|
NM_015272.5(RPGRIP1L):c.99A>C (p.Thr33=)
|
rs768545485
|
0.00001
|
NC_000016.10:g.(?_53619015)_(53622366_?)del
|
|
|
NC_000016.10:g.(?_53619025)_(53622456_?)del
|
|
|
NC_000016.10:g.(?_53656472)_(53687965_?)del
|
|
|
NC_000016.9:g.(?_53635988)_(53656288_?)del
|
|
|
NC_000016.9:g.(?_53639383)_(53698931_?)del
|
|
|
NC_000016.9:g.(?_53644869)_(53644973_?)del
|
|
|
NC_000016.9:g.(?_53652917)_(53656288_?)del
|
|
|
NC_000016.9:g.(?_53656111)_(53656288_?)dup
|
|
|
NC_000016.9:g.(?_53672132)_(53679723_?)del
|
|
|
NC_000016.9:g.(?_53672254)_(53676298_?)del
|
|
|
NC_000016.9:g.(?_53674925)_(53734635_?)del
|
|
|
NC_000016.9:g.(?_53690364)_(53709054_?)del
|
|
|
NC_000016.9:g.(?_53691355)_(53692800_?)del
|
|
|
NC_000016.9:g.(?_53692306)_(53698941_?)del
|
|
|
NC_000016.9:g.(?_53692402)_(53694155_?)del
|
|
|
NC_000016.9:g.(?_53698762)_(53698941_?)del
|
|
|
NC_000016.9:g.(?_53698772)_(53734645_?)del
|
|
|
NC_000016.9:g.(?_53705412)_(53705505_?)del
|
|
|
NC_000016.9:g.(?_53705412)_(53706938_?)del
|
|
|
NC_000016.9:g.(?_53705412)_(53721887_?)del
|
|
|
NC_000016.9:g.(?_53706762)_(53709054_?)del
|
|
|
NC_000016.9:g.(?_53708919)_(53709044_?)del
|
|
|
NC_000016.9:g.(?_53720325)_(53721897_?)del
|
|
|
NC_000016.9:g.(?_53720335)_(53721887_?)del
|
|
|
NC_000016.9:g.(?_53720335)_(53721887_?)dup
|
|
|
NC_000016.9:g.(?_53720345)_(53721877_?)del
|
|
|
NC_000016.9:g.(?_53721765)_(53721887_?)del
|
|
|
NC_000016.9:g.(?_53721765)_(53734645_?)del
|
|
|
NC_000016.9:g.(?_53721798)_(53724290_?)del
|
|
|
NC_000016.9:g.(?_53729213)_(53730217_?)del
|
|
|
NC_000016.9:g.(?_53729213)_(53730217_?)dup
|
|
|
NC_000016.9:g.(?_53734541)_(53734645_?)del
|
|
|
NM_015272.5(RPGRIP1L):c.*1035T>C
|
rs763384255
|
|
NM_015272.5(RPGRIP1L):c.*125G>T
|
rs868861934
|
|
NM_015272.5(RPGRIP1L):c.*133T>A
|
rs1963396187
|
|
NM_015272.5(RPGRIP1L):c.*159T>G
|
rs1963395143
|
|
NM_015272.5(RPGRIP1L):c.*1645A>T
|
rs144554139
|
|
NM_015272.5(RPGRIP1L):c.*626A>C
|
rs886052089
|
|
NM_015272.5(RPGRIP1L):c.*846A>T
|
rs1963365021
|
|
NM_015272.5(RPGRIP1L):c.*875A>G
|
rs886052088
|
|
NM_015272.5(RPGRIP1L):c.1005G>A (p.Lys335=)
|
|
|
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly)
|
rs565245381
|
|
NM_015272.5(RPGRIP1L):c.100C>T (p.Arg34Trp)
|
|
|
NM_015272.5(RPGRIP1L):c.1029+10C>T
|
rs542635220
|
|
NM_015272.5(RPGRIP1L):c.1029+15A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1029+15A>T
|
|
|
NM_015272.5(RPGRIP1L):c.1029+16G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1029+19del
|
|
|
NM_015272.5(RPGRIP1L):c.1029+6C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1029+9C>G
|
rs2151244866
|
|
NM_015272.5(RPGRIP1L):c.1029+9C>T
|
|
|
NM_015272.5(RPGRIP1L):c.102G>A (p.Arg34=)
|
rs1598420614
|
|
NM_015272.5(RPGRIP1L):c.1030-13A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1030-15T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1030-18A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1030-1G>T
|
rs2151236867
|
|
NM_015272.5(RPGRIP1L):c.1030-20T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1030-7A>G
|
rs2151236913
|
|
NM_015272.5(RPGRIP1L):c.1031T>A (p.Leu344Gln)
|
rs2151236847
|
|
NM_015272.5(RPGRIP1L):c.1032G>A (p.Leu344=)
|
rs1598372472
|
|
NM_015272.5(RPGRIP1L):c.1032G>C (p.Leu344=)
|
rs1598372472
|
|
NM_015272.5(RPGRIP1L):c.1032G>T (p.Leu344=)
|
rs1598372472
|
|
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)
|
rs121918202
|
|
NM_015272.5(RPGRIP1L):c.1035G>A (p.Gln345=)
|
rs1437242760
|
|
NM_015272.5(RPGRIP1L):c.1040G>A (p.Arg347Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1047T>C (p.Asn349=)
|
rs2151236754
|
|
NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter)
|
rs1968731636
|
|
NM_015272.5(RPGRIP1L):c.1058A>G (p.Lys353Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1062A>G (p.Glu354=)
|
rs2151236607
|
|
NM_015272.5(RPGRIP1L):c.1062A>T (p.Glu354Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.1065G>A (p.Arg355=)
|
rs2151236560
|
|
NM_015272.5(RPGRIP1L):c.1071T>G (p.Leu357=)
|
|
|
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs)
|
rs1060501006
|
|
NM_015272.5(RPGRIP1L):c.1073dup (p.Leu358fs)
|
rs1060501006
|
|
NM_015272.5(RPGRIP1L):c.1077G>A (p.Lys359=)
|
|
|
NM_015272.5(RPGRIP1L):c.1080A>G (p.Glu360=)
|
rs2151236444
|
|
NM_015272.5(RPGRIP1L):c.1089T>C (p.Asp363=)
|
|
|
NM_015272.5(RPGRIP1L):c.1097_1098del (p.Leu365_Tyr366insTer)
|
|
|
NM_015272.5(RPGRIP1L):c.1103+15C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1103+17T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18G>C
|
|
|
NM_015272.5(RPGRIP1L):c.1103+18del
|
|
|
NM_015272.5(RPGRIP1L):c.1103+8G>A
|
rs564455571
|
|
NM_015272.5(RPGRIP1L):c.1103+9T>A
|
|
|
NM_015272.5(RPGRIP1L):c.1103+9T>C
|
rs2151236168
|
|
NM_015272.5(RPGRIP1L):c.1104-13G>T
|
|
|
NM_015272.5(RPGRIP1L):c.1104-2A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1104-4G>C
|
|
|
NM_015272.5(RPGRIP1L):c.1104-5dup
|
rs2151199111
|
|
NM_015272.5(RPGRIP1L):c.110A>T (p.Lys37Met)
|
rs1403169303
|
|
NM_015272.5(RPGRIP1L):c.1110C>T (p.Phe370=)
|
rs2151199080
|
|
NM_015272.5(RPGRIP1L):c.1116T>C (p.Ala372=)
|
|
|
NM_015272.5(RPGRIP1L):c.1119C>G (p.Ala373=)
|
rs1347730821
|
|
NM_015272.5(RPGRIP1L):c.111G>T (p.Lys37Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)
|
rs200773352
|
|
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs)
|
rs878855006
|
|
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)
|
rs863225217
|
|
NM_015272.5(RPGRIP1L):c.1134del (p.Gln377_Trp378insTer)
|
|
|
NM_015272.5(RPGRIP1L):c.1137G>A (p.Lys379=)
|
|
|
NM_015272.5(RPGRIP1L):c.1143G>A (p.Lys381=)
|
|
|
NM_015272.5(RPGRIP1L):c.1149A>G (p.Gln383=)
|
rs2151198800
|
|
NM_015272.5(RPGRIP1L):c.114T>A (p.Ser38=)
|
rs2151379752
|
|
NM_015272.5(RPGRIP1L):c.1150C>T (p.Gln384Ter)
|
rs1968112121
|
|
NM_015272.5(RPGRIP1L):c.1155G>T (p.Leu385=)
|
|
|
NM_015272.5(RPGRIP1L):c.1161G>T (p.Val387=)
|
rs2151198681
|
|
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg)
|
rs181526554
|
|
NM_015272.5(RPGRIP1L):c.1167T>A (p.Ile389=)
|
rs1271430052
|
|
NM_015272.5(RPGRIP1L):c.116G>T (p.Arg39Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter)
|
rs2151198563
|
|
NM_015272.5(RPGRIP1L):c.1176C>G (p.Leu392=)
|
rs759115653
|
|
NM_015272.5(RPGRIP1L):c.117C>G (p.Arg39=)
|
rs763892496
|
|
NM_015272.5(RPGRIP1L):c.1181C>T (p.Thr394Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.1202C>T (p.Thr401Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.1207A>G (p.Lys403Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.120G>A (p.Gln40=)
|
rs1660515981
|
|
NM_015272.5(RPGRIP1L):c.1213G>T (p.Glu405Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.1217del (p.Ile406fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1218C>A (p.Ile406=)
|
rs1598357541
|
|
NM_015272.5(RPGRIP1L):c.1218C>T (p.Ile406=)
|
rs1598357541
|
|
NM_015272.5(RPGRIP1L):c.121G>A (p.Ala41Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.1224C>T (p.Asp408=)
|
|
|
NM_015272.5(RPGRIP1L):c.1225A>T (p.Arg409Ter)
|
rs2151198227
|
|
NM_015272.5(RPGRIP1L):c.1226G>A (p.Arg409Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=)
|
rs569208946
|
|
NM_015272.5(RPGRIP1L):c.1243+1G>A
|
rs863225218
|
|
NM_015272.5(RPGRIP1L):c.1243+2T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1243+6T>C
|
rs751839339
|
|
NM_015272.5(RPGRIP1L):c.1243+7T>A
|
rs1302178966
|
|
NM_015272.5(RPGRIP1L):c.1243+8T>C
|
rs2151198059
|
|
NM_015272.5(RPGRIP1L):c.1243+9G>A
|
rs781524446
|
|
NM_015272.5(RPGRIP1L):c.1244-10del
|
rs1967515071
|
|
NM_015272.5(RPGRIP1L):c.1244-19T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1244-3A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1244-9A>G
|
rs2151165404
|
|
NM_015272.5(RPGRIP1L):c.1246C>T (p.Gln416Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.1247A>G (p.Gln416Arg)
|
rs753413251
|
|
NM_015272.5(RPGRIP1L):c.1251T>C (p.Asn417=)
|
rs2151165227
|
|
NM_015272.5(RPGRIP1L):c.1252G>T (p.Glu418Ter)
|
rs1967512180
|
|
NM_015272.5(RPGRIP1L):c.1258C>G (p.Leu420Val)
|
rs1967511576
|
|
NM_015272.5(RPGRIP1L):c.1269G>A (p.Glu423=)
|
|
|
NM_015272.5(RPGRIP1L):c.126G>A (p.Val42=)
|
rs1423077786
|
|
NM_015272.5(RPGRIP1L):c.1271del (p.Asn424fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1278del (p.Glu426fs)
|
rs1967510088
|
|
NM_015272.5(RPGRIP1L):c.1290_1291del (p.Tyr431fs)
|
rs1381634873
|
|
NM_015272.5(RPGRIP1L):c.1293T>C (p.Tyr431=)
|
rs2151164876
|
|
NM_015272.5(RPGRIP1L):c.1301A>G (p.Gln434Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1304A>G (p.Lys435Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.130C>T (p.Arg44Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.1310A>G (p.Gln437Arg)
|
rs1227063404
|
|
NM_015272.5(RPGRIP1L):c.1311A>C (p.Gln437His)
|
|
|
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
|
rs749987648
|
|
NM_015272.5(RPGRIP1L):c.1328A>G (p.Lys443Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.132dup (p.Val45fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1340del (p.Leu447fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1343A>G (p.Tyr448Cys)
|
rs2151164400
|
|
NM_015272.5(RPGRIP1L):c.1344C>T (p.Tyr448=)
|
rs1967498439
|
|
NM_015272.5(RPGRIP1L):c.1350+15T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1350+17_1350+20del
|
|
|
NM_015272.5(RPGRIP1L):c.1350+1G>A
|
rs761435025
|
|
NM_015272.5(RPGRIP1L):c.1350+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.1350G>A (p.Gln450=)
|
|
|
NM_015272.5(RPGRIP1L):c.1351-12A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1351-12A>G
|
rs374000859
|
|
NM_015272.5(RPGRIP1L):c.1351-13dup
|
|
|
NM_015272.5(RPGRIP1L):c.1351-15_1351-12del
|
|
|
NM_015272.5(RPGRIP1L):c.1351-16A>T
|
|
|
NM_015272.5(RPGRIP1L):c.1351-18T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1351-2A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1351-4G>A
|
rs1479026011
|
|
NM_015272.5(RPGRIP1L):c.1351-9C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1364A>G (p.Asn455Ser)
|
rs1967458211
|
|
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys)
|
rs776941281
|
|
NM_015272.5(RPGRIP1L):c.1374A>G (p.Glu458=)
|
rs2151162320
|
|
NM_015272.5(RPGRIP1L):c.1377G>A (p.Leu459=)
|
|
|
NM_015272.5(RPGRIP1L):c.1383A>C (p.Glu461Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.1386T>C (p.Ala462=)
|
|
|
NM_015272.5(RPGRIP1L):c.1394T>G (p.Leu465Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1400A>C (p.Lys467Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.1401+12A>T
|
rs2151161924
|
|
NM_015272.5(RPGRIP1L):c.1401+13A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1401+14C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1401+16T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1401+18A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1401+20C>A
|
|
|
NM_015272.5(RPGRIP1L):c.1401+20C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1401+8T>C
|
rs2151161961
|
|
NM_015272.5(RPGRIP1L):c.1401+9C>G
|
rs768434507
|
|
NM_015272.5(RPGRIP1L):c.1401+9C>T
|
rs768434507
|
|
NM_015272.5(RPGRIP1L):c.1402-11T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1402-13dup
|
rs1361189318
|
|
NM_015272.5(RPGRIP1L):c.1402-14G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1402-18A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1403del (p.Ala468fs)
|
rs2151157545
|
|
NM_015272.5(RPGRIP1L):c.1404T>C (p.Ala468=)
|
rs2151157523
|
|
NM_015272.5(RPGRIP1L):c.1414C>G (p.Gln472Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.1414_1417del (p.Gln472fs)
|
rs2151157384
|
|
NM_015272.5(RPGRIP1L):c.1416A>G (p.Gln472=)
|
rs2151157400
|
|
NM_015272.5(RPGRIP1L):c.1419_1421del (p.Lys473del)
|
rs760952407
|
|
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs)
|
rs760952407
|
|
NM_015272.5(RPGRIP1L):c.1421dup (p.Asn474fs)
|
rs760952407
|
|
NM_015272.5(RPGRIP1L):c.1428C>T (p.Asp476=)
|
rs2151157288
|
|
NM_015272.5(RPGRIP1L):c.1430T>C (p.Leu477Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.1437T>C (p.Phe479=)
|
rs2151157214
|
|
NM_015272.5(RPGRIP1L):c.1444A>G (p.Lys482Glu)
|
rs1967376456
|
|
NM_015272.5(RPGRIP1L):c.1445_1446dup (p.Val483fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1455T>C (p.Ser485=)
|
|
|
NM_015272.5(RPGRIP1L):c.1464del (p.Asn488fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp)
|
rs1967370164
|
|
NM_015272.5(RPGRIP1L):c.1479C>T (p.Arg493=)
|
|
|
NM_015272.5(RPGRIP1L):c.1492C>T (p.Leu498=)
|
rs777340505
|
|
NM_015272.5(RPGRIP1L):c.1496A>C (p.Gln499Pro)
|
rs2151156698
|
|
NM_015272.5(RPGRIP1L):c.1509A>G (p.Ala503=)
|
rs2151156589
|
|
NM_015272.5(RPGRIP1L):c.1514C>T (p.Thr505Met)
|
|
|
NM_015272.5(RPGRIP1L):c.1515G>A (p.Thr505=)
|
rs1472969606
|
|
NM_015272.5(RPGRIP1L):c.151G>A (p.Glu51Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=)
|
rs1967363312
|
|
NM_015272.5(RPGRIP1L):c.1524G>A (p.Glu508=)
|
rs1238972011
|
|
NM_015272.5(RPGRIP1L):c.1525C>T (p.Leu509=)
|
rs780528142
|
|
NM_015272.5(RPGRIP1L):c.1536A>G (p.Thr512=)
|
rs1020243535
|
|
NM_015272.5(RPGRIP1L):c.1537A>G (p.Arg513Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.153A>G (p.Glu51=)
|
rs1970746720
|
|
NM_015272.5(RPGRIP1L):c.1548A>G (p.Leu516=)
|
|
|
NM_015272.5(RPGRIP1L):c.1566_1569del (p.Asn523fs)
|
rs2151156278
|
|
NM_015272.5(RPGRIP1L):c.1581+11dup
|
|
|
NM_015272.5(RPGRIP1L):c.1581+15T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1581+17A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1581+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1581+20G>A
|
|
|
NM_015272.5(RPGRIP1L):c.1581+20G>C
|
|
|
NM_015272.5(RPGRIP1L):c.1581+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.1581+9A>G
|
|
|
NM_015272.5(RPGRIP1L):c.1582-1G>C
|
rs750917538
|
|
NM_015272.5(RPGRIP1L):c.1582-20T>G
|
|
|
NM_015272.5(RPGRIP1L):c.1582-4G>A
|
rs1967278713
|
|
NM_015272.5(RPGRIP1L):c.1583T>A (p.Met528Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile)
|
rs886052097
|
|
NM_015272.5(RPGRIP1L):c.1587G>A (p.Glu529=)
|
|
|
NM_015272.5(RPGRIP1L):c.1603del (p.Arg535fs)
|
rs771264753
|
|
NM_015272.5(RPGRIP1L):c.1606A>C (p.Lys536Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.1608_1614del (p.Met537fs)
|
rs2151150644
|
|
NM_015272.5(RPGRIP1L):c.1618T>C (p.Leu540=)
|
|
|
NM_015272.5(RPGRIP1L):c.1623G>A (p.Gln541=)
|
rs1178582517
|
|
NM_015272.5(RPGRIP1L):c.1627G>A (p.Asp543Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.1638C>G (p.Leu546=)
|
|
|
NM_015272.5(RPGRIP1L):c.1641dup (p.Val548fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1650G>A (p.Gln550=)
|
rs2151150317
|
|
NM_015272.5(RPGRIP1L):c.1652A>G (p.Tyr551Cys)
|
rs1307023675
|
|
NM_015272.5(RPGRIP1L):c.1652A>T (p.Tyr551Phe)
|
rs1307023675
|
|
NM_015272.5(RPGRIP1L):c.1656T>C (p.Val552=)
|
|
|
NM_015272.5(RPGRIP1L):c.1656T>G (p.Val552=)
|
rs2151150242
|
|
NM_015272.5(RPGRIP1L):c.1659T>C (p.His553=)
|
rs1227717832
|
|
NM_015272.5(RPGRIP1L):c.1672A>C (p.Arg558=)
|
|
|
NM_015272.5(RPGRIP1L):c.1675G>A (p.Ala559Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.1680A>G (p.Ala560=)
|
|
|
NM_015272.5(RPGRIP1L):c.1692del (p.Lys564fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1693C>T (p.Leu565=)
|
rs2151149921
|
|
NM_015272.5(RPGRIP1L):c.1699+13C>T
|
rs1212500499
|
|
NM_015272.5(RPGRIP1L):c.1699+14G>A
|
rs188075133
|
|
NM_015272.5(RPGRIP1L):c.1699+14G>T
|
rs188075133
|
|
NM_015272.5(RPGRIP1L):c.1699+17T>A
|
|
|
NM_015272.5(RPGRIP1L):c.1699+4C>G
|
|
|
NM_015272.5(RPGRIP1L):c.1699+5A>C
|
rs865956479
|
|
NM_015272.5(RPGRIP1L):c.1699+9T>C
|
|
|
NM_015272.5(RPGRIP1L):c.169T>A (p.Leu57Met)
|
rs1970745367
|
|
NM_015272.5(RPGRIP1L):c.1700-16G>T
|
rs1555604481
|
|
NM_015272.5(RPGRIP1L):c.1700-4G>A
|
rs1966916853
|
|
NM_015272.5(RPGRIP1L):c.1700-4G>T
|
rs1966916853
|
|
NM_015272.5(RPGRIP1L):c.1700-9C>G
|
|
|
NM_015272.5(RPGRIP1L):c.1700-9C>T
|
rs2151128760
|
|
NM_015272.5(RPGRIP1L):c.1700C>A (p.Ala567Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)
|
rs1555604462
|
|
NM_015272.5(RPGRIP1L):c.1702C>T (p.Gln568Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.1708_1709insTT (p.Lys570fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
|
rs778149316
|
|
NM_015272.5(RPGRIP1L):c.170T>A (p.Leu57Ter)
|
rs2151379380
|
|
NM_015272.5(RPGRIP1L):c.1714A>G (p.Ile572Val)
|
|
|
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)
|
rs2151128525
|
|
NM_015272.5(RPGRIP1L):c.172C>A (p.His58Asn)
|
rs2151379355
|
|
NM_015272.5(RPGRIP1L):c.1732C>T (p.Gln578Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.1739A>C (p.Lys580Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.173A>G (p.His58Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1743T>A (p.Phe581Leu)
|
rs1966909934
|
|
NM_015272.5(RPGRIP1L):c.1745_1749del (p.Lys582fs)
|
rs754766543
|
|
NM_015272.5(RPGRIP1L):c.1746A>G (p.Lys582=)
|
rs2151128298
|
|
NM_015272.5(RPGRIP1L):c.175G>C (p.Asp59His)
|
|
|
NM_015272.5(RPGRIP1L):c.1773T>C (p.Val591=)
|
rs2151128005
|
|
NM_015272.5(RPGRIP1L):c.1775A>G (p.Asp592Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
|
rs1966902456
|
|
NM_015272.5(RPGRIP1L):c.1809C>G (p.Gly603=)
|
|
|
NM_015272.5(RPGRIP1L):c.1815T>C (p.Asn605=)
|
rs2151127604
|
|
NM_015272.5(RPGRIP1L):c.1818A>G (p.Leu606=)
|
|
|
NM_015272.5(RPGRIP1L):c.1827C>T (p.Ile609=)
|
|
|
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro)
|
rs386833997
|
|
NM_015272.5(RPGRIP1L):c.1830T>C (p.His610=)
|
|
|
NM_015272.5(RPGRIP1L):c.1831A>G (p.Ile611Val)
|
|
|
NM_015272.5(RPGRIP1L):c.1833C>T (p.Ile611=)
|
rs756141067
|
|
NM_015272.5(RPGRIP1L):c.1842A>G (p.Val614=)
|
rs781049099
|
|
NM_015272.5(RPGRIP1L):c.1844C>A (p.Thr615Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.1854T>G (p.Ser618=)
|
|
|
NM_015272.5(RPGRIP1L):c.1860T>C (p.Val620=)
|
|
|
NM_015272.5(RPGRIP1L):c.1861T>C (p.Leu621=)
|
|
|
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter)
|
rs1156977888
|
|
NM_015272.5(RPGRIP1L):c.1884G>A (p.Glu628=)
|
rs2151126933
|
|
NM_015272.5(RPGRIP1L):c.1893T>G (p.Thr631=)
|
|
|
NM_015272.5(RPGRIP1L):c.1896C>G (p.Phe632Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)
|
rs981992752
|
|
NM_015272.5(RPGRIP1L):c.1914T>A (p.Tyr638Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.1914T>C (p.Tyr638=)
|
|
|
NM_015272.5(RPGRIP1L):c.1919T>G (p.Phe640Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.1920dup (p.Glu641Ter)
|
rs2151126581
|
|
NM_015272.5(RPGRIP1L):c.1925T>C (p.Leu642Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.1926A>T (p.Leu642=)
|
|
|
NM_015272.5(RPGRIP1L):c.1935T>A (p.Thr645=)
|
rs2151126431
|
|
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)
|
rs745879566
|
|
NM_015272.5(RPGRIP1L):c.1951del (p.Leu651fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1955A>G (p.His652Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1959C>T (p.Pro653=)
|
rs1213772384
|
|
NM_015272.5(RPGRIP1L):c.1959del (p.Glu654fs)
|
rs2151126163
|
|
NM_015272.5(RPGRIP1L):c.196C>A (p.Gln66Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=)
|
rs138669723
|
|
NM_015272.5(RPGRIP1L):c.1972A>G (p.Thr658Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.1974T>C (p.Thr658=)
|
|
|
NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter)
|
rs2151125946
|
|
NM_015272.5(RPGRIP1L):c.1986T>C (p.Leu662=)
|
rs2151125842
|
|
NM_015272.5(RPGRIP1L):c.198G>A (p.Gln66=)
|
rs2151379187
|
|
NM_015272.5(RPGRIP1L):c.1991A>G (p.His664Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1995T>C (p.Val665=)
|
rs2151125697
|
|
NM_015272.5(RPGRIP1L):c.1996A>G (p.Asn666Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.1998T>C (p.Asn666=)
|
|
|
NM_015272.5(RPGRIP1L):c.2003T>A (p.Leu668Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2008T>C (p.Leu670=)
|
|
|
NM_015272.5(RPGRIP1L):c.2009dup (p.Leu670fs)
|
|
|
NM_015272.5(RPGRIP1L):c.200A>G (p.His67Arg)
|
rs763837182
|
|
NM_015272.5(RPGRIP1L):c.200A>T (p.His67Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2012A>G (p.Gln671Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.2014T>C (p.Tyr672His)
|
rs1966881046
|
|
NM_015272.5(RPGRIP1L):c.2017A>G (p.Ile673Val)
|
rs2151125534
|
|
NM_015272.5(RPGRIP1L):c.2018T>A (p.Ile673Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.2018_2021dup (p.Gln674fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2022G>A (p.Gln674=)
|
|
|
NM_015272.5(RPGRIP1L):c.2032A>C (p.Ile678Leu)
|
rs958116016
|
|
NM_015272.5(RPGRIP1L):c.2032A>G (p.Ile678Val)
|
|
|
NM_015272.5(RPGRIP1L):c.2040T>G (p.Leu680=)
|
|
|
NM_015272.5(RPGRIP1L):c.2042A>G (p.Glu681Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2045T>G (p.Val682Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2064A>G (p.Thr688=)
|
|
|
NM_015272.5(RPGRIP1L):c.2067A>G (p.Glu689=)
|
rs890062959
|
|
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His)
|
rs574091991
|
|
NM_015272.5(RPGRIP1L):c.2070T>C (p.Tyr690=)
|
|
|
NM_015272.5(RPGRIP1L):c.207C>G (p.Arg69=)
|
|
|
NM_015272.5(RPGRIP1L):c.2083_2084delinsAA (p.Ala695Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.2090A>G (p.Gln697Arg)
|
rs1396387199
|
|
NM_015272.5(RPGRIP1L):c.2092_2095del (p.Leu698fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2096A>C (p.Lys699Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter)
|
rs199975230
|
|
NM_015272.5(RPGRIP1L):c.2115A>G (p.Glu705=)
|
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015272.5(RPGRIP1L):c.2126G>A (p.Arg709Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.2130A>G (p.Ile710Met)
|
rs748143379
|
|
NM_015272.5(RPGRIP1L):c.2138C>T (p.Thr713Ile)
|
rs1016477709
|
|
NM_015272.5(RPGRIP1L):c.2141C>G (p.Ala714Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2145T>C (p.Ser715=)
|
|
|
NM_015272.5(RPGRIP1L):c.2149_2152del (p.Ile717fs)
|
rs763685772
|
|
NM_015272.5(RPGRIP1L):c.2152+10A>C
|
rs1966875026
|
|
NM_015272.5(RPGRIP1L):c.2152+10A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2152+11T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2152+19C>A
|
rs754811161
|
|
NM_015272.5(RPGRIP1L):c.2152+19C>G
|
rs754811161
|
|
NM_015272.5(RPGRIP1L):c.2152+1G>C
|
rs1006433886
|
|
NM_015272.5(RPGRIP1L):c.2152+7A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2152+8C>G
|
rs2151124212
|
|
NM_015272.5(RPGRIP1L):c.2153-12A>G
|
rs2151102687
|
|
NM_015272.5(RPGRIP1L):c.2153-13T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2153-14G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2153-14G>C
|
|
|
NM_015272.5(RPGRIP1L):c.2153-15T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2153-16A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2153-16A>T
|
|
|
NM_015272.5(RPGRIP1L):c.2153-19G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2153-19G>T
|
rs988899852
|
|
NM_015272.5(RPGRIP1L):c.2153-20_2153-18del
|
|
|
NM_015272.5(RPGRIP1L):c.2153-4G>A
|
rs201380599
|
|
NM_015272.5(RPGRIP1L):c.2153-5del
|
|
|
NM_015272.5(RPGRIP1L):c.2153-7T>A
|
|
|
NM_015272.5(RPGRIP1L):c.2156C>G (p.Thr719Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.2158A>G (p.Lys720Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.2172A>G (p.Pro724=)
|
rs1472949647
|
|
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp)
|
rs546150528
|
|
NM_015272.5(RPGRIP1L):c.2184A>C (p.Thr728=)
|
rs2151102385
|
|
NM_015272.5(RPGRIP1L):c.2184A>G (p.Thr728=)
|
|
|
NM_015272.5(RPGRIP1L):c.2190A>G (p.Glu730=)
|
|
|
NM_015272.5(RPGRIP1L):c.2193C>T (p.Tyr731=)
|
|
|
NM_015272.5(RPGRIP1L):c.2196G>C (p.Trp732Cys)
|
rs2151102358
|
|
NM_015272.5(RPGRIP1L):c.2201_2213del (p.Arg734fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2206A>G (p.Arg736Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2214C>G (p.Pro738=)
|
|
|
NM_015272.5(RPGRIP1L):c.2221C>T (p.Gln741Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2223A>G (p.Gln741=)
|
|
|
NM_015272.5(RPGRIP1L):c.2223del (p.Ala742fs)
|
rs2151102253
|
|
NM_015272.5(RPGRIP1L):c.2230C>A (p.Arg744=)
|
rs267604575
|
|
NM_015272.5(RPGRIP1L):c.2231G>T (p.Arg744Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
NM_015272.5(RPGRIP1L):c.223A>G (p.Ile75Val)
|
rs2151379062
|
|
NM_015272.5(RPGRIP1L):c.2241A>T (p.Arg747=)
|
rs2151101997
|
|
NM_015272.5(RPGRIP1L):c.2244A>G (p.Glu748=)
|
rs2151101953
|
|
NM_015272.5(RPGRIP1L):c.2246G>A (p.Arg749Lys)
|
rs774573573
|
|
NM_015272.5(RPGRIP1L):c.225T>A (p.Ile75=)
|
rs2151379048
|
|
NM_015272.5(RPGRIP1L):c.225dup (p.Lys76Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2261G>A (p.Gly754Glu)
|
rs1966773695
|
|
NM_015272.5(RPGRIP1L):c.2262G>T (p.Gly754=)
|
rs775616241
|
|
NM_015272.5(RPGRIP1L):c.2262del (p.Tyr755fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2271A>G (p.Thr757=)
|
rs2151101735
|
|
NM_015272.5(RPGRIP1L):c.2273C>T (p.Ser758Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2277T>C (p.Asn759=)
|
rs2151101706
|
|
NM_015272.5(RPGRIP1L):c.2286G>A (p.Gly762=)
|
|
|
NM_015272.5(RPGRIP1L):c.2286G>T (p.Gly762=)
|
rs769599317
|
|
NM_015272.5(RPGRIP1L):c.2288dup (p.Glu764fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del)
|
rs1555602657
|
|
NM_015272.5(RPGRIP1L):c.2296A>G (p.Met766Val)
|
rs2151101589
|
|
NM_015272.5(RPGRIP1L):c.230+10A>G
|
|
|
NM_015272.5(RPGRIP1L):c.230+13dup
|
|
|
NM_015272.5(RPGRIP1L):c.230+14G>A
|
rs1970739259
|
|
NM_015272.5(RPGRIP1L):c.230+14G>T
|
|
|
NM_015272.5(RPGRIP1L):c.230+17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.230+18T>G
|
|
|
NM_015272.5(RPGRIP1L):c.230+19T>C
|
|
|
NM_015272.5(RPGRIP1L):c.230+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.230+7A>G
|
rs1970740052
|
|
NM_015272.5(RPGRIP1L):c.230+9A>G
|
rs774753693
|
|
NM_015272.5(RPGRIP1L):c.2301G>A (p.Gln767=)
|
rs1338012833
|
|
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
|
rs542206983
|
|
NM_015272.5(RPGRIP1L):c.2303C>T (p.Ser768Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2304+12T>G
|
|
|
NM_015272.5(RPGRIP1L):c.2304+14G>C
|
|
|
NM_015272.5(RPGRIP1L):c.2304+18T>A
|
|
|
NM_015272.5(RPGRIP1L):c.2304+18T>C
|
rs780469767
|
|
NM_015272.5(RPGRIP1L):c.2304+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2304+6C>T
|
|
|
NM_015272.5(RPGRIP1L):c.2304+8C>T
|
rs1421469718
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>C
|
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>G
|
rs1461433745
|
|
NM_015272.5(RPGRIP1L):c.2304+9A>T
|
rs1461433745
|
|
NM_015272.5(RPGRIP1L):c.2305-11T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2305-15T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2305-15del
|
|
|
NM_015272.5(RPGRIP1L):c.2305-1G>C
|
rs863225215
|
|
NM_015272.5(RPGRIP1L):c.2305-8T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2305-8T>G
|
rs953486434
|
|
NM_015272.5(RPGRIP1L):c.231-10A>C
|
|
|
NM_015272.5(RPGRIP1L):c.231-13A>C
|
|
|
NM_015272.5(RPGRIP1L):c.231-2A>G
|
|
|
NM_015272.5(RPGRIP1L):c.231-4C>G
|
rs774628905
|
|
NM_015272.5(RPGRIP1L):c.231-5C>T
|
|
|
NM_015272.5(RPGRIP1L):c.2319A>C (p.Ala773=)
|
rs2151084071
|
|
NM_015272.5(RPGRIP1L):c.2322del (p.Thr776fs)
|
rs1253568005
|
|
NM_015272.5(RPGRIP1L):c.2332C>T (p.Gln778Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2334A>G (p.Gln778=)
|
rs1435869251
|
|
NM_015272.5(RPGRIP1L):c.2335C>T (p.Leu779Phe)
|
|
|
NM_015272.5(RPGRIP1L):c.2346A>G (p.Thr782=)
|
|
|
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=)
|
rs1966518935
|
|
NM_015272.5(RPGRIP1L):c.2352C>A (p.Ser784=)
|
|
|
NM_015272.5(RPGRIP1L):c.2354_2367delinsTTAC (p.Thr785fs)
|
rs1966516920
|
|
NM_015272.5(RPGRIP1L):c.2358T>C (p.Asp786=)
|
rs1468139751
|
|
NM_015272.5(RPGRIP1L):c.2360G>A (p.Gly787Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.2360G>C (p.Gly787Ala)
|
rs996587890
|
|
NM_015272.5(RPGRIP1L):c.2361C>A (p.Gly787=)
|
rs1481436139
|
|
NM_015272.5(RPGRIP1L):c.2370T>C (p.Asn790=)
|
rs2151083713
|
|
NM_015272.5(RPGRIP1L):c.2379C>T (p.His793=)
|
rs1567830747
|
|
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)
|
rs1970448329
|
|
NM_015272.5(RPGRIP1L):c.2380A>G (p.Ile794Val)
|
rs781443815
|
|
NM_015272.5(RPGRIP1L):c.2381T>C (p.Ile794Thr)
|
rs2151083626
|
|
NM_015272.5(RPGRIP1L):c.2383A>G (p.Thr795Ala)
|
rs1393329540
|
|
NM_015272.5(RPGRIP1L):c.2384C>T (p.Thr795Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.2389A>G (p.Arg797Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2391A>G (p.Arg797=)
|
|
|
NM_015272.5(RPGRIP1L):c.2397C>A (p.Cys799Ter)
|
rs758547965
|
|
NM_015272.5(RPGRIP1L):c.2398A>G (p.Asn800Asp)
|
rs752724338
|
|
NM_015272.5(RPGRIP1L):c.2404C>G (p.Leu802Val)
|
|
|
NM_015272.5(RPGRIP1L):c.2418A>G (p.Ala806=)
|
rs1966512167
|
|
NM_015272.5(RPGRIP1L):c.2424C>T (p.His808=)
|
rs771774137
|
|
NM_015272.5(RPGRIP1L):c.2425C>T (p.Leu809=)
|
|
|
NM_015272.5(RPGRIP1L):c.2428C>T (p.Gln810Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2432del (p.Pro811fs)
|
rs1966511029
|
|
NM_015272.5(RPGRIP1L):c.2435_2436dup (p.Pro813fs)
|
|
|
NM_015272.5(RPGRIP1L):c.243G>A (p.Lys81=)
|
|
|
NM_015272.5(RPGRIP1L):c.2444T>C (p.Val815Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.2445T>C (p.Val815=)
|
rs2151083124
|
|
NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter)
|
rs145807002
|
|
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)
|
rs145807002
|
|
NM_015272.5(RPGRIP1L):c.2460T>C (p.Phe820=)
|
rs778075524
|
|
NM_015272.5(RPGRIP1L):c.2465T>C (p.Phe822Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.2466del (p.Phe822fs)
|
rs1966507642
|
|
NM_015272.5(RPGRIP1L):c.2467G>A (p.Ala823Thr)
|
rs1051268898
|
|
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)
|
rs2151082906
|
|
NM_015272.5(RPGRIP1L):c.2481A>C (p.Thr827=)
|
|
|
NM_015272.5(RPGRIP1L):c.2484T>G (p.Ala828=)
|
rs2151082787
|
|
NM_015272.5(RPGRIP1L):c.2487C>T (p.Ile829=)
|
rs2151082774
|
|
NM_015272.5(RPGRIP1L):c.2490T>C (p.Ile830=)
|
|
|
NM_015272.5(RPGRIP1L):c.2493del (p.Ser832fs)
|
rs746792129
|
|
NM_015272.5(RPGRIP1L):c.2496T>C (p.Ser832=)
|
rs2151082740
|
|
NM_015272.5(RPGRIP1L):c.249A>G (p.Ile83Met)
|
|
|
NM_015272.5(RPGRIP1L):c.2508A>G (p.Pro836=)
|
rs753693082
|
|
NM_015272.5(RPGRIP1L):c.2508A>T (p.Pro836=)
|
rs753693082
|
|
NM_015272.5(RPGRIP1L):c.250C>A (p.Arg84=)
|
|
|
NM_015272.5(RPGRIP1L):c.250C>G (p.Arg84Gly)
|
rs770098954
|
|
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=)
|
rs1598310040
|
|
NM_015272.5(RPGRIP1L):c.2532C>T (p.Phe844=)
|
rs760455293
|
|
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
|
rs770291169
|
|
NM_015272.5(RPGRIP1L):c.2563T>C (p.Tyr855His)
|
|
|
NM_015272.5(RPGRIP1L):c.2565C>A (p.Tyr855Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)
|
rs886052096
|
|
NM_015272.5(RPGRIP1L):c.2566del (p.Lys857fs)
|
|
|
NM_015272.5(RPGRIP1L):c.256G>A (p.Val86Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.256G>C (p.Val86Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.256_259del (p.Val86fs)
|
rs751020468
|
|
NM_015272.5(RPGRIP1L):c.2571G>A (p.Lys857=)
|
|
|
NM_015272.5(RPGRIP1L):c.2573C>A (p.Ser858Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2574A>G (p.Ser858=)
|
rs1966500554
|
|
NM_015272.5(RPGRIP1L):c.2576_2577del (p.Glu859fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2577G>A (p.Glu859=)
|
rs2151082234
|
|
NM_015272.5(RPGRIP1L):c.2581_2582insG (p.Leu861fs)
|
rs1966500186
|
|
NM_015272.5(RPGRIP1L):c.2591_2592del (p.Tyr864fs)
|
rs772028612
|
|
NM_015272.5(RPGRIP1L):c.2592T>C (p.Tyr864=)
|
|
|
NM_015272.5(RPGRIP1L):c.2595T>G (p.Val865=)
|
rs546554009
|
|
NM_015272.5(RPGRIP1L):c.2601T>C (p.Asp867=)
|
|
|
NM_015272.5(RPGRIP1L):c.2603A>G (p.Asp868Gly)
|
rs1966497416
|
|
NM_015272.5(RPGRIP1L):c.2604T>C (p.Asp868=)
|
rs1567829935
|
|
NM_015272.5(RPGRIP1L):c.2609A>G (p.Asp870Gly)
|
rs1966496784
|
|
NM_015272.5(RPGRIP1L):c.2615A>G (p.Gln872Arg)
|
rs754997198
|
|
NM_015272.5(RPGRIP1L):c.261T>C (p.Asn87=)
|
rs752587948
|
|
NM_015272.5(RPGRIP1L):c.2630T>C (p.Ile877Thr)
|
rs756072167
|
|
NM_015272.5(RPGRIP1L):c.2634A>G (p.Gly878=)
|
|
|
NM_015272.5(RPGRIP1L):c.2643_2671del (p.Asn881fs)
|
rs886041824
|
|
NM_015272.5(RPGRIP1L):c.2657C>T (p.Ser886Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2658G>T (p.Ser886=)
|
|
|
NM_015272.5(RPGRIP1L):c.2665C>T (p.His889Tyr)
|
|
|
NM_015272.5(RPGRIP1L):c.267G>A (p.Lys89=)
|
rs1434968352
|
|
NM_015272.5(RPGRIP1L):c.2683+15T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2683+15T>G
|
|
|
NM_015272.5(RPGRIP1L):c.2683+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.2683+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2684-14T>A
|
|
|
NM_015272.5(RPGRIP1L):c.2684-14T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2684-15A>C
|
|
|
NM_015272.5(RPGRIP1L):c.2684-1G>A
|
rs2151060257
|
|
NM_015272.5(RPGRIP1L):c.2684-9A>G
|
rs1211499888
|
|
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)
|
rs1966218490
|
|
NM_015272.5(RPGRIP1L):c.269_273del (p.Lys90fs)
|
rs2151353922
|
|
NM_015272.5(RPGRIP1L):c.2711del (p.Lys904fs)
|
rs2151060082
|
|
NM_015272.5(RPGRIP1L):c.2715del (p.Pro906fs)
|
rs2151060021
|
|
NM_015272.5(RPGRIP1L):c.2718T>C (p.Pro906=)
|
rs1038661631
|
|
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)
|
rs1966216548
|
|
NM_015272.5(RPGRIP1L):c.2726C>G (p.Thr909Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.2729T>C (p.Ile910Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.2730C>T (p.Ile910=)
|
|
|
NM_015272.5(RPGRIP1L):c.2733T>C (p.His911=)
|
rs780925825
|
|
NM_015272.5(RPGRIP1L):c.2740T>C (p.Leu914=)
|
rs746733895
|
|
NM_015272.5(RPGRIP1L):c.2743A>C (p.Lys915Gln)
|
rs2151059707
|
|
NM_015272.5(RPGRIP1L):c.2751A>G (p.Lys917=)
|
rs2151059675
|
|
NM_015272.5(RPGRIP1L):c.2760C>A (p.Tyr920Ter)
|
rs1966212821
|
|
NM_015272.5(RPGRIP1L):c.2763T>G (p.Leu921=)
|
rs2151059581
|
|
NM_015272.5(RPGRIP1L):c.2765C>T (p.Pro922Leu)
|
rs2151059566
|
|
NM_015272.5(RPGRIP1L):c.2766A>G (p.Pro922=)
|
rs1567825162
|
|
NM_015272.5(RPGRIP1L):c.2767C>T (p.Pro923Ser)
|
rs572508334
|
|
NM_015272.5(RPGRIP1L):c.2770A>C (p.Ser924Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.2771G>A (p.Ser924Asn)
|
rs142234650
|
|
NM_015272.5(RPGRIP1L):c.2773G>A (p.Gly925Arg)
|
rs2151059471
|
|
NM_015272.5(RPGRIP1L):c.2778A>G (p.Ser926=)
|
rs1293313012
|
|
NM_015272.5(RPGRIP1L):c.2781A>T (p.Ile927=)
|
|
|
NM_015272.5(RPGRIP1L):c.2784A>G (p.Thr928=)
|
|
|
NM_015272.5(RPGRIP1L):c.27A>C (p.Ala9=)
|
rs765315344
|
|
NM_015272.5(RPGRIP1L):c.27A>G (p.Ala9=)
|
rs765315344
|
|
NM_015272.5(RPGRIP1L):c.2809C>T (p.Arg937Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.2810G>T (p.Arg937Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2816_2817del (p.Glu939fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2823A>G (p.Pro941=)
|
rs1966206646
|
|
NM_015272.5(RPGRIP1L):c.282G>T (p.Arg94=)
|
rs2151353718
|
|
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe)
|
rs576417383
|
|
NM_015272.5(RPGRIP1L):c.2840T>C (p.Leu947Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.2842C>A (p.Pro948Thr)
|
rs1486116698
|
|
NM_015272.5(RPGRIP1L):c.2843C>T (p.Pro948Leu)
|
rs561327446
|
|
NM_015272.5(RPGRIP1L):c.2851_2863del (p.Ser951fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2852C>T (p.Ser951Phe)
|
|
|
NM_015272.5(RPGRIP1L):c.2853C>T (p.Ser951=)
|
rs2151058811
|
|
NM_015272.5(RPGRIP1L):c.2855_2856del (p.Ser952fs)
|
rs2151058791
|
|
NM_015272.5(RPGRIP1L):c.2857G>A (p.Val953Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.2859T>C (p.Val953=)
|
|
|
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)
|
rs2151058712
|
|
NM_015272.5(RPGRIP1L):c.2867T>C (p.Leu956Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.2874+10A>C
|
|
|
NM_015272.5(RPGRIP1L):c.2874+11G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2874+13G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2874+18_2874+19del
|
|
|
NM_015272.5(RPGRIP1L):c.2874+4A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2875-15G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2875-17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.2875-20C>T
|
|
|
NM_015272.5(RPGRIP1L):c.2875-2A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2875-3T>G
|
|
|
NM_015272.5(RPGRIP1L):c.2875-4T>C
|
rs2151057424
|
|
NM_015272.5(RPGRIP1L):c.2875-5C>G
|
|
|
NM_015272.5(RPGRIP1L):c.2875-5C>T
|
rs758927533
|
|
NM_015272.5(RPGRIP1L):c.2875-6T>C
|
|
|
NM_015272.5(RPGRIP1L):c.287G>A (p.Gly96Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.2883A>G (p.Arg961=)
|
rs1459496882
|
|
NM_015272.5(RPGRIP1L):c.2886T>G (p.Pro962=)
|
|
|
NM_015272.5(RPGRIP1L):c.2913A>C (p.Val971=)
|
rs766575191
|
|
NM_015272.5(RPGRIP1L):c.2915A>G (p.Asp972Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2919G>A (p.Lys973=)
|
rs2151056978
|
|
NM_015272.5(RPGRIP1L):c.291C>A (p.Gly97=)
|
rs765369037
|
|
NM_015272.5(RPGRIP1L):c.2920A>T (p.Lys974Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.2923G>A (p.Val975Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr)
|
rs886052095
|
|
NM_015272.5(RPGRIP1L):c.2934G>A (p.Val978=)
|
|
|
NM_015272.5(RPGRIP1L):c.2935G>T (p.Asp979Tyr)
|
rs370687136
|
|
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs)
|
rs1182447072
|
|
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val)
|
rs886052098
|
|
NM_015272.5(RPGRIP1L):c.294C>T (p.Gly98=)
|
|
|
NM_015272.5(RPGRIP1L):c.2952G>C (p.Gln984His)
|
|
|
NM_015272.5(RPGRIP1L):c.2958+10A>G
|
rs2151056471
|
|
NM_015272.5(RPGRIP1L):c.2958+11G>T
|
|
|
NM_015272.5(RPGRIP1L):c.2958+12A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.2958+3A>G
|
rs2151056549
|
|
NM_015272.5(RPGRIP1L):c.2958+4_2958+7dup
|
rs2151056517
|
|
NM_015272.5(RPGRIP1L):c.2959-11A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2959-12C>T
|
|
|
NM_015272.5(RPGRIP1L):c.2959-13A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2959-16_2960del
|
|
|
NM_015272.5(RPGRIP1L):c.2959-5A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2959-8A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2959G>A (p.Glu987Lys)
|
rs1467277908
|
|
NM_015272.5(RPGRIP1L):c.2960A>C (p.Glu987Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.2961G>A (p.Glu987=)
|
|
|
NM_015272.5(RPGRIP1L):c.2962A>T (p.Thr988Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.2963C>T (p.Thr988Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.2964T>C (p.Thr988=)
|
|
|
NM_015272.5(RPGRIP1L):c.2964T>G (p.Thr988=)
|
rs2151040746
|
|
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)
|
rs752076060
|
|
NM_015272.5(RPGRIP1L):c.296C>T (p.Pro99Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2974C>G (p.Pro992Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.2976T>C (p.Pro992=)
|
rs2151040617
|
|
NM_015272.5(RPGRIP1L):c.2981_2982insCA (p.Arg995fs)
|
rs2151040565
|
|
NM_015272.5(RPGRIP1L):c.2985G>A (p.Arg995=)
|
|
|
NM_015272.5(RPGRIP1L):c.2988G>A (p.Lys996=)
|
|
|
NM_015272.5(RPGRIP1L):c.2992A>G (p.Ile998Val)
|
|
|
NM_015272.5(RPGRIP1L):c.2996C>G (p.Ser999Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.299del (p.Lys100fs)
|
|
|
NM_015272.5(RPGRIP1L):c.3007G>A (p.Glu1003Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)
|
rs574430009
|
|
NM_015272.5(RPGRIP1L):c.3014T>C (p.Ile1005Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.3024A>T (p.Ile1008=)
|
|
|
NM_015272.5(RPGRIP1L):c.3027A>T (p.Glu1009Asp)
|
rs2151040118
|
|
NM_015272.5(RPGRIP1L):c.3035T>C (p.Met1012Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)
|
rs182207372
|
|
NM_015272.5(RPGRIP1L):c.303G>T (p.Arg101=)
|
rs182207372
|
|
NM_015272.5(RPGRIP1L):c.3042T>C (p.Thr1014=)
|
|
|
NM_015272.5(RPGRIP1L):c.3043G>C (p.Val1015Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.3045_3060+12dup
|
|
|
NM_015272.5(RPGRIP1L):c.3047C>T (p.Pro1016Leu)
|
rs2151040012
|
|
NM_015272.5(RPGRIP1L):c.3060+10T>A
|
rs2151039825
|
|
NM_015272.5(RPGRIP1L):c.3060+7A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3060+8T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3061-18G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3061-7T>C
|
rs1965940741
|
|
NM_015272.5(RPGRIP1L):c.3061G>A (p.Val1021Ile)
|
rs552123467
|
|
NM_015272.5(RPGRIP1L):c.3067C>T (p.Gln1023Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.3068A>G (p.Gln1023Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.3069A>G (p.Gln1023=)
|
|
|
NM_015272.5(RPGRIP1L):c.3078T>C (p.Ser1026=)
|
|
|
NM_015272.5(RPGRIP1L):c.3084T>C (p.Asp1028=)
|
rs1965938868
|
|
NM_015272.5(RPGRIP1L):c.3090A>G (p.Val1030=)
|
rs1965937231
|
|
NM_015272.5(RPGRIP1L):c.3110T>A (p.Met1037Lys)
|
rs2151036636
|
|
NM_015272.5(RPGRIP1L):c.3124G>C (p.Asp1042His)
|
|
|
NM_015272.5(RPGRIP1L):c.3134C>G (p.Ser1045Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.3138A>G (p.Leu1046=)
|
rs1306386140
|
|
NM_015272.5(RPGRIP1L):c.3141A>G (p.Leu1047=)
|
|
|
NM_015272.5(RPGRIP1L):c.3141_3144del (p.Ser1048fs)
|
|
|
NM_015272.5(RPGRIP1L):c.3142T>C (p.Ser1048Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His)
|
rs886052094
|
|
NM_015272.5(RPGRIP1L):c.3156T>A (p.Leu1052=)
|
rs2151036210
|
|
NM_015272.5(RPGRIP1L):c.3160G>T (p.Glu1054Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.3162A>G (p.Glu1054=)
|
rs2151036177
|
|
NM_015272.5(RPGRIP1L):c.3168C>T (p.Ser1056=)
|
|
|
NM_015272.5(RPGRIP1L):c.3169T>C (p.Leu1057=)
|
|
|
NM_015272.5(RPGRIP1L):c.3171G>A (p.Leu1057=)
|
|
|
NM_015272.5(RPGRIP1L):c.3174A>G (p.Ala1058=)
|
rs1965928165
|
|
NM_015272.5(RPGRIP1L):c.3175T>C (p.Ser1059Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.3184G>A (p.Asp1062Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.3192A>C (p.Thr1064=)
|
rs956639777
|
|
NM_015272.5(RPGRIP1L):c.3192A>G (p.Thr1064=)
|
rs956639777
|
|
NM_015272.5(RPGRIP1L):c.3208_3214del (p.Leu1070fs)
|
|
|
NM_015272.5(RPGRIP1L):c.3211G>A (p.Glu1071Lys)
|
rs864622470
|
|
NM_015272.5(RPGRIP1L):c.3220+13T>C
|
rs376659273
|
|
NM_015272.5(RPGRIP1L):c.3220+5C>A
|
|
|
NM_015272.5(RPGRIP1L):c.3220+7T>G
|
|
|
NM_015272.5(RPGRIP1L):c.3220+8T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3221-14T>A
|
rs761174078
|
|
NM_015272.5(RPGRIP1L):c.3221-15T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3221-17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3221-20C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3221-3C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3221-4A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3221-7T>C
|
rs1170674790
|
|
NM_015272.5(RPGRIP1L):c.3221-7dup
|
|
|
NM_015272.5(RPGRIP1L):c.3221T>A (p.Val1074Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.322A>G (p.Met108Val)
|
rs1970437847
|
|
NM_015272.5(RPGRIP1L):c.3232A>C (p.Met1078Leu)
|
rs1965842435
|
|
NM_015272.5(RPGRIP1L):c.3233T>C (p.Met1078Thr)
|
rs1391765743
|
|
NM_015272.5(RPGRIP1L):c.3235T>G (p.Ser1079Ala)
|
rs1295300355
|
|
NM_015272.5(RPGRIP1L):c.3237A>C (p.Ser1079=)
|
|
|
NM_015272.5(RPGRIP1L):c.3246C>T (p.Asp1082=)
|
|
|
NM_015272.5(RPGRIP1L):c.324G>C (p.Met108Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.3257G>A (p.Cys1086Tyr)
|
rs772351648
|
|
NM_015272.5(RPGRIP1L):c.3257_3258del (p.Cys1086fs)
|
|
|
NM_015272.5(RPGRIP1L):c.325G>A (p.Glu109Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.325G>T (p.Glu109Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.3263T>C (p.Ile1088Thr)
|
rs1185071339
|
|
NM_015272.5(RPGRIP1L):c.3270T>C (p.Gly1090=)
|
|
|
NM_015272.5(RPGRIP1L):c.3277del (p.Ser1093fs)
|
|
|
NM_015272.5(RPGRIP1L):c.327A>G (p.Glu109=)
|
|
|
NM_015272.5(RPGRIP1L):c.3294+10T>C
|
rs201237327
|
|
NM_015272.5(RPGRIP1L):c.3294+11T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3294+17C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3294+19A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3294+6T>C
|
rs2151029086
|
|
NM_015272.5(RPGRIP1L):c.3294+9C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3295-10T>G
|
|
|
NM_015272.5(RPGRIP1L):c.3295-16T>A
|
|
|
NM_015272.5(RPGRIP1L):c.3295-18_3295-17insC
|
|
|
NM_015272.5(RPGRIP1L):c.3295-20T>G
|
|
|
NM_015272.5(RPGRIP1L):c.3295-2A>G
|
rs1258182460
|
|
NM_015272.5(RPGRIP1L):c.3295-4A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3295-6A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3295-6del
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7del
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7dup
|
|
|
NM_015272.5(RPGRIP1L):c.3295-8del
|
rs113083177
|
|
NM_015272.5(RPGRIP1L):c.3295-9T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3295-9_3295-8insG
|
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.330A>G (p.Glu110=)
|
rs1970437460
|
|
NM_015272.5(RPGRIP1L):c.3310C>T (p.Pro1104Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=)
|
rs568801926
|
|
NM_015272.5(RPGRIP1L):c.3313G>C (p.Gly1105Arg)
|
rs528501990
|
|
NM_015272.5(RPGRIP1L):c.3315G>A (p.Gly1105=)
|
|
|
NM_015272.5(RPGRIP1L):c.3321G>A (p.Gly1107=)
|
|
|
NM_015272.5(RPGRIP1L):c.3324C>T (p.Cys1108=)
|
|
|
NM_015272.5(RPGRIP1L):c.3332C>T (p.Ala1111Val)
|
|
|
NM_015272.5(RPGRIP1L):c.3339A>C (p.Ser1113=)
|
|
|
NM_015272.5(RPGRIP1L):c.3351C>T (p.Asn1117=)
|
|
|
NM_015272.5(RPGRIP1L):c.3356G>T (p.Arg1119Leu)
|
rs1207253947
|
|
NM_015272.5(RPGRIP1L):c.3363G>A (p.Pro1121=)
|
|
|
NM_015272.5(RPGRIP1L):c.336T>A (p.Ile112=)
|
|
|
NM_015272.5(RPGRIP1L):c.336T>C (p.Ile112=)
|
|
|
NM_015272.5(RPGRIP1L):c.3373G>T (p.Asp1125Tyr)
|
rs866468122
|
|
NM_015272.5(RPGRIP1L):c.3380del (p.Pro1127fs)
|
|
|
NM_015272.5(RPGRIP1L):c.3390C>T (p.Ala1130=)
|
|
|
NM_015272.5(RPGRIP1L):c.3393C>A (p.Ser1131=)
|
|
|
NM_015272.5(RPGRIP1L):c.3396A>G (p.Gln1132=)
|
|
|
NM_015272.5(RPGRIP1L):c.339G>A (p.Glu113=)
|
rs1970436686
|
|
NM_015272.5(RPGRIP1L):c.3412G>A (p.Gly1138Ser)
|
rs2150974674
|
|
NM_015272.5(RPGRIP1L):c.3423C>T (p.His1141=)
|
|
|
NM_015272.5(RPGRIP1L):c.3426C>T (p.His1142=)
|
|
|
NM_015272.5(RPGRIP1L):c.3428C>A (p.Thr1143Asn)
|
rs111775292
|
|
NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.3432+10dup
|
|
|
NM_015272.5(RPGRIP1L):c.3432+13A>T
|
|
|
NM_015272.5(RPGRIP1L):c.3432+1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3432+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3432+20G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3432+2T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3432+4A>G
|
rs1449225904
|
|
NM_015272.5(RPGRIP1L):c.3433-13G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3433-1G>A
|
|
|
NM_015272.5(RPGRIP1L):c.3433-20dup
|
|
|
NM_015272.5(RPGRIP1L):c.3433-7T>C
|
|
|
NM_015272.5(RPGRIP1L):c.3433-7_3436del
|
rs2150964847
|
|
NM_015272.5(RPGRIP1L):c.3435A>G (p.Pro1145=)
|
|
|
NM_015272.5(RPGRIP1L):c.3439G>T (p.Glu1147Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.3445dup (p.Ile1149fs)
|
|
|
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=)
|
rs750930363
|
|
NM_015272.5(RPGRIP1L):c.3453T>C (p.Ile1151=)
|
|
|
NM_015272.5(RPGRIP1L):c.3457del (p.Ile1153fs)
|
|
|
NM_015272.5(RPGRIP1L):c.3459C>T (p.Ile1153=)
|
rs1964562143
|
|
NM_015272.5(RPGRIP1L):c.3461dup (p.Ala1155fs)
|
rs1964561986
|
|
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)
|
rs1436841364
|
|
NM_015272.5(RPGRIP1L):c.3465T>A (p.Ala1155=)
|
|
|
NM_015272.5(RPGRIP1L):c.3470G>C (p.Ser1157Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.3480T>G (p.Asp1160Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.3492C>T (p.Thr1164=)
|
rs2150964666
|
|
NM_015272.5(RPGRIP1L):c.3493A>G (p.Met1165Val)
|
rs2150964658
|
|
NM_015272.5(RPGRIP1L):c.3497A>T (p.Asp1166Val)
|
|
|
NM_015272.5(RPGRIP1L):c.349G>A (p.Glu117Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.3511C>T (p.Arg1171Trp)
|
|
|
NM_015272.5(RPGRIP1L):c.3512G>A (p.Arg1171Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.3514C>T (p.Leu1172=)
|
rs2150964607
|
|
NM_015272.5(RPGRIP1L):c.3516G>C (p.Leu1172=)
|
rs1388851938
|
|
NM_015272.5(RPGRIP1L):c.3528T>C (p.Cys1176=)
|
rs1449202929
|
|
NM_015272.5(RPGRIP1L):c.3529C>A (p.Arg1177=)
|
|
|
NM_015272.5(RPGRIP1L):c.3531A>T (p.Arg1177=)
|
rs2150964540
|
|
NM_015272.5(RPGRIP1L):c.3533_3535del (p.Phe1178del)
|
rs1964556741
|
|
NM_015272.5(RPGRIP1L):c.3540T>G (p.Ser1180Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.3552A>G (p.Glu1184=)
|
|
|
NM_015272.5(RPGRIP1L):c.3555G>A (p.Glu1185=)
|
rs2150964438
|
|
NM_015272.5(RPGRIP1L):c.3558_3559del (p.Pro1187fs)
|
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015272.5(RPGRIP1L):c.3561C>T (p.Pro1187=)
|
rs557855890
|
|
NM_015272.5(RPGRIP1L):c.3573A>C (p.Pro1191=)
|
rs2150964332
|
|
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu)
|
rs886052092
|
|
NM_015272.5(RPGRIP1L):c.357T>G (p.Val119=)
|
|
|
NM_015272.5(RPGRIP1L):c.3580A>C (p.Lys1194Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.3580A>G (p.Lys1194Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.3585T>G (p.Ser1195Arg)
|
rs376935464
|
|
NM_015272.5(RPGRIP1L):c.3591G>A (p.Gln1197=)
|
rs1598241420
|
|
NM_015272.5(RPGRIP1L):c.3593G>A (p.Trp1198Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.3605_3608del (p.Asn1202fs)
|
rs2150964195
|
|
NM_015272.5(RPGRIP1L):c.3607del (p.Tyr1203fs)
|
rs2150964205
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NM_015272.5(RPGRIP1L):c.3608A>G (p.Tyr1203Cys)
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NM_015272.5(RPGRIP1L):c.360_388dup (p.Lys130fs)
|
rs2151352672
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NM_015272.5(RPGRIP1L):c.3616+12T>G
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NM_015272.5(RPGRIP1L):c.3616+14A>G
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NM_015272.5(RPGRIP1L):c.3616+18G>T
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rs1053189955
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NM_015272.5(RPGRIP1L):c.3616+1G>A
|
rs1964549409
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NM_015272.5(RPGRIP1L):c.3616+2T>C
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NM_015272.5(RPGRIP1L):c.3616+2del
|
rs1964549329
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NM_015272.5(RPGRIP1L):c.3616+9G>C
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NM_015272.5(RPGRIP1L):c.3617-12C>A
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NM_015272.5(RPGRIP1L):c.3617-13T>C
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NM_015272.5(RPGRIP1L):c.3617-13del
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NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
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NM_015272.5(RPGRIP1L):c.3617-4A>G
|
rs771975767
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NM_015272.5(RPGRIP1L):c.3617-5T>C
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NM_015272.5(RPGRIP1L):c.3617-6G>A
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NM_015272.5(RPGRIP1L):c.3617-6G>T
|
rs377099270
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NM_015272.5(RPGRIP1L):c.3617-7G>T
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rs1363436397
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NM_015272.5(RPGRIP1L):c.3617-9T>C
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NM_015272.5(RPGRIP1L):c.3623A>G (p.Tyr1208Cys)
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NM_015272.5(RPGRIP1L):c.3628dup (p.Asp1210fs)
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rs2150938444
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NM_015272.5(RPGRIP1L):c.3647_3651del (p.Ala1216fs)
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rs1964001995
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NM_015272.5(RPGRIP1L):c.3648A>G (p.Ala1216=)
|
rs2150938382
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NM_015272.5(RPGRIP1L):c.3651G>A (p.Lys1217=)
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NM_015272.5(RPGRIP1L):c.3655_3658dup (p.Ile1220fs)
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NM_015272.5(RPGRIP1L):c.3657C>T (p.Asp1219=)
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NM_015272.5(RPGRIP1L):c.3659T>C (p.Ile1220Thr)
|
rs2150938312
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NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter)
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NM_015272.5(RPGRIP1L):c.3691C>T (p.Pro1231Ser)
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NM_015272.5(RPGRIP1L):c.3696T>C (p.Asn1232=)
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rs2150938143
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NM_015272.5(RPGRIP1L):c.3699A>G (p.Arg1233=)
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NM_015272.5(RPGRIP1L):c.3701+13A>G
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NM_015272.5(RPGRIP1L):c.3701+16C>A
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NM_015272.5(RPGRIP1L):c.3701+19A>G
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NM_015272.5(RPGRIP1L):c.3701+20A>G
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NM_015272.5(RPGRIP1L):c.3701+9T>C
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NM_015272.5(RPGRIP1L):c.3702-14C>G
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NM_015272.5(RPGRIP1L):c.3702-20T>G
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NM_015272.5(RPGRIP1L):c.3702-4C>T
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NM_015272.5(RPGRIP1L):c.3702-6T>C
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NM_015272.5(RPGRIP1L):c.3702-9C>A
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NM_015272.5(RPGRIP1L):c.3702-9C>T
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NM_015272.5(RPGRIP1L):c.3720C>T (p.Val1240=)
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NM_015272.5(RPGRIP1L):c.3735G>A (p.Glu1245=)
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NM_015272.5(RPGRIP1L):c.3748C>T (p.Leu1250=)
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NM_015272.5(RPGRIP1L):c.3750G>A (p.Leu1250=)
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NM_015272.5(RPGRIP1L):c.3753G>A (p.Glu1251=)
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NM_015272.5(RPGRIP1L):c.3759G>A (p.Glu1253=)
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NM_015272.5(RPGRIP1L):c.3765T>G (p.Ile1255Met)
|
rs2150920632
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NM_015272.5(RPGRIP1L):c.3766G>T (p.Gly1256Cys)
|
rs1963628196
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NM_015272.5(RPGRIP1L):c.3771G>A (p.Val1257=)
|
rs1963627514
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NM_015272.5(RPGRIP1L):c.377_378insGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAACAAAA (p.Asn126fs)
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NM_015272.5(RPGRIP1L):c.377del (p.Asn126fs)
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NM_015272.5(RPGRIP1L):c.3780C>A (p.Val1260=)
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NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn)
|
rs1445612197
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NM_015272.5(RPGRIP1L):c.3789C>T (p.Ala1263=)
|
rs1963626162
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NM_015272.5(RPGRIP1L):c.379G>A (p.Glu127Lys)
|
rs2151352773
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NM_015272.5(RPGRIP1L):c.3801G>A (p.Gln1267=)
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NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
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NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)
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rs761954313
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NM_015272.5(RPGRIP1L):c.3813C>T (p.Asp1271=)
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NM_015272.5(RPGRIP1L):c.3816C>T (p.Leu1272=)
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NM_015272.5(RPGRIP1L):c.3827A>G (p.Asn1276Ser)
|
rs1963622750
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NM_015272.5(RPGRIP1L):c.3829A>G (p.Ile1277Val)
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NM_015272.5(RPGRIP1L):c.3831C>A (p.Ile1277=)
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NM_015272.5(RPGRIP1L):c.3835+12A>T
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NM_015272.5(RPGRIP1L):c.3835+13G>A
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NM_015272.5(RPGRIP1L):c.3835+14T>C
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NM_015272.5(RPGRIP1L):c.3835+15G>A
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NM_015272.5(RPGRIP1L):c.3835+18G>T
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NM_015272.5(RPGRIP1L):c.3835+19C>T
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NM_015272.5(RPGRIP1L):c.3835+20_3835+34del
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NM_015272.5(RPGRIP1L):c.3835+5G>A
|
rs754798360
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NM_015272.5(RPGRIP1L):c.3836-13C>G
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rs886038620
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NM_015272.5(RPGRIP1L):c.3836-16G>A
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NM_015272.5(RPGRIP1L):c.3836-18C>T
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NM_015272.5(RPGRIP1L):c.3836-19C>G
|
rs1276455735
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NM_015272.5(RPGRIP1L):c.3836-19C>T
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NM_015272.5(RPGRIP1L):c.3836-21_3836-20del
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NM_015272.5(RPGRIP1L):c.3836-4C>A
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rs1233984342
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NM_015272.5(RPGRIP1L):c.3836-5C>T
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NM_015272.5(RPGRIP1L):c.3837T>G (p.Val1279=)
|
rs2150909559
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NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)
|
rs2150909535
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NM_015272.5(RPGRIP1L):c.3845C>T (p.Ala1282Val)
|
rs2150909524
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NM_015272.5(RPGRIP1L):c.3847C>A (p.Arg1283=)
|
rs754697392
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NM_015272.5(RPGRIP1L):c.3848G>A (p.Arg1283Gln)
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NM_015272.5(RPGRIP1L):c.384C>G (p.Thr128=)
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rs2151352728
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NM_015272.5(RPGRIP1L):c.384C>T (p.Thr128=)
|
rs2151352728
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NM_015272.5(RPGRIP1L):c.3864T>C (p.Gly1288=)
|
rs2150909430
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NM_015272.5(RPGRIP1L):c.3880G>A (p.Val1294Ile)
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NM_015272.5(RPGRIP1L):c.3886G>A (p.Val1296Ile)
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NM_015272.5(RPGRIP1L):c.3887T>A (p.Val1296Asp)
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NM_015272.5(RPGRIP1L):c.3888C>T (p.Val1296=)
|
rs1963406998
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NM_015272.5(RPGRIP1L):c.3889G>A (p.Glu1297Lys)
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NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=)
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rs915393428
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NM_015272.5(RPGRIP1L):c.3901G>A (p.Ala1301Thr)
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NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)
|
rs773361667
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NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=)
|
rs2150909277
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NM_015272.5(RPGRIP1L):c.3935A>C (p.Asp1312Ala)
|
rs1963404223
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NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=)
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NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter)
|
rs121918201
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NM_015272.5(RPGRIP1L):c.397C>T (p.Leu133=)
|
rs2151352510
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NM_015272.5(RPGRIP1L):c.411A>G (p.Lys137=)
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NM_015272.5(RPGRIP1L):c.414del (p.Gln138fs)
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NM_015272.5(RPGRIP1L):c.421C>T (p.Gln141Ter)
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rs2151352275
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NM_015272.5(RPGRIP1L):c.423A>G (p.Gln141=)
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NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter)
|
rs1970430433
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NM_015272.5(RPGRIP1L):c.431G>A (p.Gly144Asp)
|
rs1970430274
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NM_015272.5(RPGRIP1L):c.440A>T (p.Gln147Leu)
|
rs2151352094
|
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NM_015272.5(RPGRIP1L):c.441_529+79delinsTGCT
|
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NM_015272.5(RPGRIP1L):c.447A>C (p.Pro149=)
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NM_015272.5(RPGRIP1L):c.447A>G (p.Pro149=)
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NM_015272.5(RPGRIP1L):c.450C>T (p.Tyr150=)
|
rs748120890
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NM_015272.5(RPGRIP1L):c.458T>C (p.Val153Ala)
|
rs1970427633
|
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NM_015272.5(RPGRIP1L):c.459A>G (p.Val153=)
|
rs2151351733
|
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NM_015272.5(RPGRIP1L):c.462A>G (p.Gln154=)
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NM_015272.5(RPGRIP1L):c.467G>A (p.Arg156His)
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NM_015272.5(RPGRIP1L):c.467G>T (p.Arg156Leu)
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NM_015272.5(RPGRIP1L):c.474C>T (p.Asn158=)
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NM_015272.5(RPGRIP1L):c.477T>C (p.Thr159=)
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NM_015272.5(RPGRIP1L):c.480G>T (p.Gly160=)
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NM_015272.5(RPGRIP1L):c.482G>T (p.Arg161Leu)
|
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NM_015272.5(RPGRIP1L):c.483T>G (p.Arg161=)
|
rs2151351392
|
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NM_015272.5(RPGRIP1L):c.486A>G (p.Arg162=)
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NM_015272.5(RPGRIP1L):c.490G>A (p.Ala164Thr)
|
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NM_015272.5(RPGRIP1L):c.492A>G (p.Ala164=)
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NM_015272.5(RPGRIP1L):c.496G>T (p.Glu166Ter)
|
rs2151351169
|
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NM_015272.5(RPGRIP1L):c.503C>T (p.Ala168Val)
|
rs926999229
|
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NM_015272.5(RPGRIP1L):c.504T>C (p.Ala168=)
|
rs2151351081
|
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NM_015272.5(RPGRIP1L):c.505G>C (p.Gly169Arg)
|
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NM_015272.5(RPGRIP1L):c.507T>C (p.Gly169=)
|
rs2151350970
|
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NM_015272.5(RPGRIP1L):c.511C>T (p.Gln171Ter)
|
|
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NM_015272.5(RPGRIP1L):c.516A>G (p.Glu172=)
|
rs2151350826
|
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NM_015272.5(RPGRIP1L):c.519C>T (p.Cys173=)
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NM_015272.5(RPGRIP1L):c.51A>G (p.Thr17=)
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NM_015272.5(RPGRIP1L):c.525G>A (p.Arg175=)
|
rs2151350777
|
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NM_015272.5(RPGRIP1L):c.528del (p.Gly177fs)
|
rs1970421631
|
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NM_015272.5(RPGRIP1L):c.529+13T>C
|
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NM_015272.5(RPGRIP1L):c.529+14T>C
|
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NM_015272.5(RPGRIP1L):c.529+15A>G
|
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NM_015272.5(RPGRIP1L):c.529+16C>G
|
rs765320880
|
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NM_015272.5(RPGRIP1L):c.529+19T>G
|
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NM_015272.5(RPGRIP1L):c.529+1G>A
|
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NM_015272.5(RPGRIP1L):c.529+7C>G
|
rs1970421028
|
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NM_015272.5(RPGRIP1L):c.529+7C>T
|
rs1970421028
|
|
NM_015272.5(RPGRIP1L):c.52_57del (p.Gly18_Leu19del)
|
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NM_015272.5(RPGRIP1L):c.530-10T>C
|
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NM_015272.5(RPGRIP1L):c.530-13A>G
|
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NM_015272.5(RPGRIP1L):c.530-16A>G
|
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NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
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NM_015272.5(RPGRIP1L):c.530-20T>C
|
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NM_015272.5(RPGRIP1L):c.530-3del
|
rs1567882035
|
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NM_015272.5(RPGRIP1L):c.530-8G>C
|
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NM_015272.5(RPGRIP1L):c.530-9T>C
|
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NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)
|
rs987512823
|
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NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.544G>A (p.Asp182Asn)
|
rs2151325702
|
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NM_015272.5(RPGRIP1L):c.548C>T (p.Ala183Val)
|
|
|
NM_015272.5(RPGRIP1L):c.550_551insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCAAGATGCAG (p.Asp184delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
rs2151325681
|
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NM_015272.5(RPGRIP1L):c.555A>G (p.Val185=)
|
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NM_015272.5(RPGRIP1L):c.556G>C (p.Ala186Pro)
|
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NM_015272.5(RPGRIP1L):c.562A>G (p.Thr188Ala)
|
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NM_015272.5(RPGRIP1L):c.563C>T (p.Thr188Ile)
|
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NM_015272.5(RPGRIP1L):c.564T>A (p.Thr188=)
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NM_015272.5(RPGRIP1L):c.582A>T (p.Thr194=)
|
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NM_015272.5(RPGRIP1L):c.590G>C (p.Gly197Ala)
|
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NM_015272.5(RPGRIP1L):c.591C>A (p.Gly197=)
|
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NM_015272.5(RPGRIP1L):c.591_598del (p.Asn198fs)
|
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NM_015272.5(RPGRIP1L):c.591del (p.Asn198fs)
|
rs1283508618
|
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NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
NM_015272.5(RPGRIP1L):c.59A>C (p.Asn20Thr)
|
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|
NM_015272.5(RPGRIP1L):c.609A>C (p.Glu203Asp)
|
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|
NM_015272.5(RPGRIP1L):c.616G>T (p.Gly206Ter)
|
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|
NM_015272.5(RPGRIP1L):c.618A>G (p.Gly206=)
|
rs1970130340
|
|
NM_015272.5(RPGRIP1L):c.632+16T>C
|
|
|
NM_015272.5(RPGRIP1L):c.632+16del
|
rs559978421
|
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NM_015272.5(RPGRIP1L):c.632+1G>A
|
rs1376397728
|
|
NM_015272.5(RPGRIP1L):c.632+1G>T
|
|
|
NM_015272.5(RPGRIP1L):c.632+2T>C
|
rs2151325186
|
|
NM_015272.5(RPGRIP1L):c.632+7G>A
|
rs746526374
|
|
NM_015272.5(RPGRIP1L):c.632+9_632+21del
|
rs2151325015
|
|
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.633-14G>T
|
|
|
NM_015272.5(RPGRIP1L):c.633-15G>A
|
|
|
NM_015272.5(RPGRIP1L):c.633-19C>T
|
rs2151318621
|
|
NM_015272.5(RPGRIP1L):c.633-1G>C
|
rs2151318564
|
|
NM_015272.5(RPGRIP1L):c.638A>G (p.Asn213Ser)
|
rs2151318519
|
|
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys)
|
rs376808910
|
|
NM_015272.5(RPGRIP1L):c.647del (p.Gln216fs)
|
|
|
NM_015272.5(RPGRIP1L):c.651A>C (p.Ser217=)
|
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|
NM_015272.5(RPGRIP1L):c.659del (p.Gly220fs)
|
|
|
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs)
|
rs1567902051
|
|
NM_015272.5(RPGRIP1L):c.663_664dup (p.Ile222fs)
|
rs2151318273
|
|
NM_015272.5(RPGRIP1L):c.669G>A (p.Glu223=)
|
|
|
NM_015272.5(RPGRIP1L):c.66T>C (p.Phe22=)
|
rs760486367
|
|
NM_015272.5(RPGRIP1L):c.676G>T (p.Glu226Ter)
|
rs2151318201
|
|
NM_015272.5(RPGRIP1L):c.678G>A (p.Glu226=)
|
rs1970027900
|
|
NM_015272.5(RPGRIP1L):c.682T>A (p.Leu228Met)
|
|
|
NM_015272.5(RPGRIP1L):c.699A>G (p.Lys233=)
|
rs2151318068
|
|
NM_015272.5(RPGRIP1L):c.6T>C (p.Ser2=)
|
rs2151417590
|
|
NM_015272.5(RPGRIP1L):c.702T>A (p.Thr234=)
|
|
|
NM_015272.5(RPGRIP1L):c.705G>A (p.Gln235=)
|
rs752815435
|
|
NM_015272.5(RPGRIP1L):c.706T>A (p.Leu236Met)
|
|
|
NM_015272.5(RPGRIP1L):c.707T>A (p.Leu236Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.712del (p.Arg238fs)
|
rs2151317974
|
|
NM_015272.5(RPGRIP1L):c.714A>G (p.Arg238=)
|
rs2151317940
|
|
NM_015272.5(RPGRIP1L):c.721A>G (p.Asn241Asp)
|
rs1970023173
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NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs)
|
rs386833998
|
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NM_015272.5(RPGRIP1L):c.726A>G (p.Glu242=)
|
rs2151317865
|
|
NM_015272.5(RPGRIP1L):c.734T>G (p.Leu245Ter)
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NM_015272.5(RPGRIP1L):c.735A>G (p.Leu245=)
|
rs2151317799
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NM_015272.5(RPGRIP1L):c.740TTC[1] (p.Leu248del)
|
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|
NM_015272.5(RPGRIP1L):c.744T>G (p.Leu248=)
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NM_015272.5(RPGRIP1L):c.745C>T (p.Gln249Ter)
|
rs1970021137
|
|
NM_015272.5(RPGRIP1L):c.752G>C (p.Arg251Pro)
|
rs767314963
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
NM_015272.5(RPGRIP1L):c.759G>A (p.Gln253=)
|
|
|
NM_015272.5(RPGRIP1L):c.772C>T (p.Gln258Ter)
|
rs1970017927
|
|
NM_015272.5(RPGRIP1L):c.776+17A>G
|
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NM_015272.5(RPGRIP1L):c.776+19A>G
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|
|
NM_015272.5(RPGRIP1L):c.776+1G>C
|
|
|
NM_015272.5(RPGRIP1L):c.776+2T>C
|
rs2151317483
|
|
NM_015272.5(RPGRIP1L):c.776+8A>T
|
|
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NM_015272.5(RPGRIP1L):c.777-12A>G
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NM_015272.5(RPGRIP1L):c.777-17T>G
|
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NM_015272.5(RPGRIP1L):c.777-20T>C
|
|
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NM_015272.5(RPGRIP1L):c.777-6C>G
|
|
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NM_015272.5(RPGRIP1L):c.777-7T>C
|
rs1969053313
|
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NM_015272.5(RPGRIP1L):c.777-8C>T
|
|
|
NM_015272.5(RPGRIP1L):c.777-9A>T
|
rs1969053796
|
|
NM_015272.5(RPGRIP1L):c.779C>G (p.Ser260Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.780A>G (p.Ser260=)
|
rs201761685
|
|
NM_015272.5(RPGRIP1L):c.787C>A (p.Arg263=)
|
rs773626315
|
|
NM_015272.5(RPGRIP1L):c.789G>A (p.Arg263=)
|
|
|
NM_015272.5(RPGRIP1L):c.78G>T (p.Gly26=)
|
rs1276297529
|
|
NM_015272.5(RPGRIP1L):c.803T>A (p.Met268Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.805A>G (p.Ile269Val)
|
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|
NM_015272.5(RPGRIP1L):c.810G>A (p.Lys270=)
|
|
|
NM_015272.5(RPGRIP1L):c.813T>C (p.Leu271=)
|
rs2151259061
|
|
NM_015272.5(RPGRIP1L):c.816T>C (p.His272=)
|
|
|
NM_015272.5(RPGRIP1L):c.822G>A (p.Gln274=)
|
rs2151258993
|
|
NM_015272.5(RPGRIP1L):c.825A>G (p.Leu275=)
|
|
|
NM_015272.5(RPGRIP1L):c.839del (p.Asn280fs)
|
|
|
NM_015272.5(RPGRIP1L):c.85+12T>A
|
|
|
NM_015272.5(RPGRIP1L):c.85+12T>C
|
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NM_015272.5(RPGRIP1L):c.85+17T>C
|
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|
NM_015272.5(RPGRIP1L):c.85+2del
|
|
|
NM_015272.5(RPGRIP1L):c.86-12G>A
|
|
|
NM_015272.5(RPGRIP1L):c.86-12_86-8del
|
|
|
NM_015272.5(RPGRIP1L):c.86-18A>G
|
|
|
NM_015272.5(RPGRIP1L):c.86-7T>G
|
rs2151379974
|
|
NM_015272.5(RPGRIP1L):c.864A>G (p.Lys288=)
|
rs2151258723
|
|
NM_015272.5(RPGRIP1L):c.86A>C (p.Glu29Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.874C>T (p.Leu292Phe)
|
rs1969042766
|
|
NM_015272.5(RPGRIP1L):c.882+10T>C
|
rs1598379616
|
|
NM_015272.5(RPGRIP1L):c.882+17T>C
|
|
|
NM_015272.5(RPGRIP1L):c.882+3A>G
|
rs1969042020
|
|
NM_015272.5(RPGRIP1L):c.882+9A>G
|
|
|
NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.883-14T>C
|
|
|
NM_015272.5(RPGRIP1L):c.883-15C>A
|
|
|
NM_015272.5(RPGRIP1L):c.883-15_883-14del
|
|
|
NM_015272.5(RPGRIP1L):c.883-16T>C
|
|
|
NM_015272.5(RPGRIP1L):c.883-20A>G
|
|
|
NM_015272.5(RPGRIP1L):c.883-2A>G
|
rs1598375731
|
|
NM_015272.5(RPGRIP1L):c.883-3del
|
|
|
NM_015272.5(RPGRIP1L):c.883-6T>C
|
|
|
NM_015272.5(RPGRIP1L):c.883_884insT (p.Lys295fs)
|
|
|
NM_015272.5(RPGRIP1L):c.884A>C (p.Lys295Thr)
|
rs2151246140
|
|
NM_015272.5(RPGRIP1L):c.890G>A (p.Arg297Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.918G>A (p.Leu306=)
|
rs1968869903
|
|
NM_015272.5(RPGRIP1L):c.919A>T (p.Met307Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.929G>A (p.Gly310Glu)
|
rs2151245719
|
|
NM_015272.5(RPGRIP1L):c.930G>A (p.Gly310=)
|
rs1968868729
|
|
NM_015272.5(RPGRIP1L):c.935A>C (p.Glu312Ala)
|
rs2151245683
|
|
NM_015272.5(RPGRIP1L):c.937T>C (p.Leu313=)
|
rs2151245638
|
|
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter)
|
rs1598375579
|
|
NM_015272.5(RPGRIP1L):c.950_951del (p.Leu317fs)
|
rs2151245549
|
|
NM_015272.5(RPGRIP1L):c.952A>T (p.Lys318Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.957G>A (p.Glu319=)
|
rs1968866974
|
|
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile)
|
rs1195150584
|
|
NM_015272.5(RPGRIP1L):c.961C>T (p.Arg321Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.971G>C (p.Cys324Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.972C>G (p.Cys324Trp)
|
|
|
NM_015272.5(RPGRIP1L):c.972C>T (p.Cys324=)
|
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
NM_015272.5(RPGRIP1L):c.975C>T (p.Cys325=)
|
|
|
NM_015272.5(RPGRIP1L):c.978T>C (p.Ser326=)
|
rs2151245344
|
|
NM_015272.5(RPGRIP1L):c.980T>G (p.Leu327Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.981T>C (p.Leu327=)
|
|
|
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs)
|
rs1470967742
|
|
NM_015272.5(RPGRIP1L):c.988C>T (p.Gln330Ter)
|
rs771058410
|
|
NM_015272.5(RPGRIP1L):c.991T>C (p.Leu331=)
|
|
|
NM_015272.5(RPGRIP1L):c.992T>C (p.Leu331Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.999T>A (p.Ser333=)
|
rs1022259426
|
|
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)
|
rs1022259426
|
|
NM_015272.5(RPGRIP1L):c.99A>G (p.Thr33=)
|
|
|