NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu)
|
rs6571751
|
0.48811
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=)
|
rs9322965
|
0.22187
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_020366.4(RPGRIP1):c.2215+7G>A
|
rs7157052
|
0.19970
|
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=)
|
rs17792599
|
0.16008
|
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln)
|
rs1040904
|
0.05758
|
NM_020366.4(RPGRIP1):c.3340-15C>T
|
rs28664100
|
0.05325
|
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)
|
rs17103671
|
0.02649
|
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu)
|
rs34725281
|
0.02464
|
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=)
|
rs34116882
|
0.01609
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)
|
rs62646879
|
0.00919
|
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=)
|
rs35592908
|
0.00689
|
NM_020366.4(RPGRIP1):c.2292G>A (p.Ala764=)
|
rs35207255
|
0.00650
|
NM_020366.4(RPGRIP1):c.930+3A>G
|
rs150107283
|
0.00419
|
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)
|
rs35810926
|
0.00369
|
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His)
|
rs34067949
|
0.00344
|
NM_020366.4(RPGRIP1):c.218+13C>G
|
rs200225522
|
0.00279
|
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)
|
rs145896974
|
0.00240
|
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)
|
rs185667326
|
0.00183
|
NM_020366.4(RPGRIP1):c.2599C>T (p.Arg867Trp)
|
rs186803989
|
0.00181
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=)
|
rs144585562
|
0.00130
|
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)
|
rs186266220
|
0.00127
|
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)
|
rs372615343
|
0.00084
|
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser)
|
rs200657688
|
0.00077
|
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)
|
rs181758389
|
0.00076
|
NM_020366.4(RPGRIP1):c.490+11A>C
|
rs200740893
|
0.00076
|
NM_020366.4(RPGRIP1):c.2037C>T (p.Thr679=)
|
rs372813238
|
0.00073
|
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu)
|
rs199590641
|
0.00073
|
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)
|
rs201838837
|
0.00053
|
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=)
|
rs200268506
|
0.00051
|
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val)
|
rs137853911
|
0.00051
|
NM_020366.4(RPGRIP1):c.1796C>T (p.Pro599Leu)
|
rs368192802
|
0.00048
|
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=)
|
rs369515171
|
0.00048
|
NM_020366.4(RPGRIP1):c.1078-9C>A
|
rs371312060
|
0.00042
|
NM_020366.4(RPGRIP1):c.1307-18T>G
|
rs377024599
|
0.00036
|
NM_020366.4(RPGRIP1):c.2949G>A (p.Lys983=)
|
rs371419221
|
0.00036
|
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr)
|
rs184926375
|
0.00031
|
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg)
|
rs375226924
|
0.00030
|
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)
|
rs368434311
|
0.00029
|
NM_020366.4(RPGRIP1):c.1287T>G (p.Leu429=)
|
rs368092579
|
0.00026
|
NM_020366.4(RPGRIP1):c.2529C>T (p.Asn843=)
|
rs74034911
|
0.00026
|
NM_020366.4(RPGRIP1):c.2711-13G>T
|
rs369991630
|
0.00026
|
NM_020366.4(RPGRIP1):c.2367+19C>T
|
rs367769049
|
0.00025
|
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)
|
rs190490019
|
0.00024
|
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg)
|
rs200401966
|
0.00023
|
NM_020366.4(RPGRIP1):c.913G>A (p.Glu305Lys)
|
rs752956324
|
0.00023
|
NM_020366.4(RPGRIP1):c.218+6T>C
|
rs370643056
|
0.00021
|
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln)
|
rs201191634
|
0.00021
|
NM_020366.4(RPGRIP1):c.907G>A (p.Ala303Thr)
|
rs200168103
|
0.00020
|
NM_020366.4(RPGRIP1):c.1991A>G (p.His664Arg)
|
rs767180524
|
0.00018
|
NM_020366.4(RPGRIP1):c.3525T>C (p.Phe1175=)
|
rs371400132
|
0.00018
|
NM_020366.4(RPGRIP1):c.3644C>T (p.Pro1215Leu)
|
rs1295657393
|
0.00018
|
NM_020366.4(RPGRIP1):c.801-14G>A
|
rs368869746
|
0.00018
|
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His)
|
rs376250340
|
0.00016
|
NM_020366.4(RPGRIP1):c.3749-16T>C
|
rs369756217
|
0.00016
|
NM_020366.4(RPGRIP1):c.85+12G>A
|
rs201152775
|
0.00016
|
NM_020366.4(RPGRIP1):c.2942G>A (p.Arg981Gln)
|
rs376213645
|
0.00015
|
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=)
|
rs140904308
|
0.00014
|
NM_020366.4(RPGRIP1):c.1761T>C (p.Ser587=)
|
rs559041866
|
0.00014
|
NM_020366.4(RPGRIP1):c.3402_3404del (p.Met1134_Ser1135delinsIle)
|
rs774522001
|
0.00014
|
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro)
|
rs199982906
|
0.00014
|
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly)
|
rs200325360
|
0.00012
|
NM_020366.4(RPGRIP1):c.1468-14G>A
|
rs142196176
|
0.00011
|
NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu)
|
rs543867152
|
0.00011
|
NM_020366.4(RPGRIP1):c.2710+11G>A
|
rs368181053
|
0.00011
|
NM_020366.4(RPGRIP1):c.491-3T>C
|
rs749376395
|
0.00011
|
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)
|
rs371762530
|
0.00011
|
NM_020366.4(RPGRIP1):c.2208A>G (p.Thr736=)
|
rs549165176
|
0.00010
|
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)
|
rs188318743
|
0.00010
|
NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala)
|
rs759254680
|
0.00010
|
NM_020366.4(RPGRIP1):c.1078-11A>G
|
rs368149716
|
0.00009
|
NM_020366.4(RPGRIP1):c.189T>C (p.Leu63=)
|
rs777977490
|
0.00009
|
NM_020366.4(RPGRIP1):c.2869G>A (p.Glu957Lys)
|
rs199589566
|
0.00009
|
NM_020366.4(RPGRIP1):c.375A>G (p.Gln125=)
|
rs372557648
|
0.00009
|
NM_020366.4(RPGRIP1):c.528G>A (p.Ser176=)
|
rs375351235
|
0.00009
|
NM_020366.4(RPGRIP1):c.1306+3A>G
|
rs374260998
|
0.00008
|
NM_020366.4(RPGRIP1):c.1652A>G (p.Asn551Ser)
|
rs373415938
|
0.00008
|
NM_020366.4(RPGRIP1):c.1772A>G (p.Lys591Arg)
|
rs745899255
|
0.00008
|
NM_020366.4(RPGRIP1):c.2449G>A (p.Gly817Arg)
|
rs764884763
|
0.00008
|
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly)
|
rs373515194
|
0.00008
|
NM_020366.4(RPGRIP1):c.2749G>A (p.Gly917Arg)
|
rs771761377
|
0.00008
|
NM_020366.4(RPGRIP1):c.86-20A>T
|
rs372867069
|
0.00008
|
NM_020366.4(RPGRIP1):c.889T>C (p.Leu297=)
|
rs1010355460
|
0.00008
|
NM_020366.4(RPGRIP1):c.2600G>A (p.Arg867Gln)
|
rs375012807
|
0.00007
|
NM_020366.4(RPGRIP1):c.2669G>A (p.Arg890Gln)
|
rs374913550
|
0.00007
|
NM_020366.4(RPGRIP1):c.1470A>G (p.Pro490=)
|
rs374411851
|
0.00006
|
NM_020366.4(RPGRIP1):c.2216-11C>G
|
rs373502907
|
0.00006
|
NM_020366.4(RPGRIP1):c.2297A>G (p.Asn766Ser)
|
rs183607403
|
0.00006
|
NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=)
|
rs375546482
|
0.00006
|
NM_020366.4(RPGRIP1):c.2439T>C (p.Ser813=)
|
rs774802954
|
0.00006
|
NM_020366.4(RPGRIP1):c.3022G>C (p.Gly1008Arg)
|
rs377551155
|
0.00006
|
NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe)
|
rs367899074
|
0.00006
|
NM_020366.4(RPGRIP1):c.310G>C (p.Gly104Arg)
|
rs377018856
|
0.00006
|
NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg)
|
rs372226099
|
0.00006
|
NM_020366.4(RPGRIP1):c.3512T>C (p.Ile1171Thr)
|
rs202036914
|
0.00006
|
NM_020366.4(RPGRIP1):c.3532+8A>C
|
rs533130331
|
0.00006
|
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)
|
rs201384449
|
0.00006
|
NM_020366.4(RPGRIP1):c.930+12G>T
|
rs373627836
|
0.00006
|
NM_020366.4(RPGRIP1):c.1103A>G (p.Glu368Gly)
|
rs774569329
|
0.00005
|
NM_020366.4(RPGRIP1):c.1518T>C (p.Asn506=)
|
rs757821677
|
0.00005
|
NM_020366.4(RPGRIP1):c.1588C>T (p.Arg530Cys)
|
rs373592510
|
0.00005
|
NM_020366.4(RPGRIP1):c.2203G>T (p.Ala735Ser)
|
rs769776142
|
0.00005
|
NM_020366.4(RPGRIP1):c.2480G>A (p.Arg827His)
|
rs28937883
|
0.00005
|
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val)
|
rs772480252
|
0.00005
|
NM_020366.4(RPGRIP1):c.2794C>G (p.Pro932Ala)
|
rs773491339
|
0.00005
|
NM_020366.4(RPGRIP1):c.328C>T (p.Arg110Trp)
|
rs765387527
|
0.00005
|
NM_020366.4(RPGRIP1):c.3339+12G>A
|
rs377219564
|
0.00005
|
NM_020366.4(RPGRIP1):c.353G>A (p.Arg118His)
|
rs369530487
|
0.00005
|
NM_020366.4(RPGRIP1):c.490+14C>T
|
rs776461437
|
0.00005
|
NM_020366.4(RPGRIP1):c.543G>A (p.Ala181=)
|
rs774735061
|
0.00005
|
NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter)
|
rs375859404
|
0.00004
|
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn)
|
rs376435824
|
0.00004
|
NM_020366.4(RPGRIP1):c.1468-2A>G
|
rs751342895
|
0.00004
|
NM_020366.4(RPGRIP1):c.1488A>G (p.Gln496=)
|
rs752913201
|
0.00004
|
NM_020366.4(RPGRIP1):c.153T>C (p.Phe51=)
|
rs199606938
|
0.00004
|
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)
|
rs192003551
|
0.00004
|
NM_020366.4(RPGRIP1):c.1581T>C (p.Ile527=)
|
rs1198707436
|
0.00004
|
NM_020366.4(RPGRIP1):c.1608T>C (p.Tyr536=)
|
rs371513311
|
0.00004
|
NM_020366.4(RPGRIP1):c.2083C>A (p.Gln695Lys)
|
rs377020451
|
0.00004
|
NM_020366.4(RPGRIP1):c.218+1G>T
|
rs546692544
|
0.00004
|
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)
|
rs75459701
|
0.00004
|
NM_020366.4(RPGRIP1):c.2466A>G (p.Pro822=)
|
rs757884304
|
0.00004
|
NM_020366.4(RPGRIP1):c.2478C>T (p.Tyr826=)
|
rs369908041
|
0.00004
|
NM_020366.4(RPGRIP1):c.2490C>T (p.Thr830=)
|
rs748441119
|
0.00004
|
NM_020366.4(RPGRIP1):c.2592T>C (p.Tyr864=)
|
rs201639860
|
0.00004
|
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln)
|
rs559905596
|
0.00004
|
NM_020366.4(RPGRIP1):c.295G>C (p.Glu99Gln)
|
rs1436942223
|
0.00004
|
NM_020366.4(RPGRIP1):c.3037G>A (p.Val1013Ile)
|
rs1289388105
|
0.00004
|
NM_020366.4(RPGRIP1):c.3220C>T (p.Pro1074Ser)
|
rs533471221
|
0.00004
|
NM_020366.4(RPGRIP1):c.3239-15C>G
|
rs761280426
|
0.00004
|
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val)
|
rs760334377
|
0.00004
|
NM_020366.4(RPGRIP1):c.3451C>T (p.Leu1151=)
|
rs748933746
|
0.00004
|
NM_020366.4(RPGRIP1):c.3617+16C>G
|
rs759638122
|
0.00004
|
NM_020366.4(RPGRIP1):c.3749-2A>G
|
rs376517859
|
0.00004
|
NM_020366.4(RPGRIP1):c.3832A>G (p.Lys1278Glu)
|
rs768759217
|
0.00004
|
NM_020366.4(RPGRIP1):c.432A>G (p.Gln144=)
|
rs751684215
|
0.00004
|
NM_020366.4(RPGRIP1):c.437G>A (p.Gly146Glu)
|
rs755600406
|
0.00004
|
NM_020366.4(RPGRIP1):c.800+15C>T
|
rs768757891
|
0.00004
|
NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=)
|
rs201186199
|
0.00004
|
NM_020366.4(RPGRIP1):c.993A>G (p.Ala331=)
|
rs773504349
|
0.00004
|
NM_020366.4(RPGRIP1):c.1012A>G (p.Lys338Glu)
|
rs766519169
|
0.00003
|
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=)
|
rs372186092
|
0.00003
|
NM_020366.4(RPGRIP1):c.1943C>A (p.Thr648Asn)
|
rs780101671
|
0.00003
|
NM_020366.4(RPGRIP1):c.2148A>C (p.Ala716=)
|
rs781305621
|
0.00003
|
NM_020366.4(RPGRIP1):c.219-4A>G
|
rs755936973
|
0.00003
|
NM_020366.4(RPGRIP1):c.2303G>A (p.Arg768Gln)
|
rs770870865
|
0.00003
|
NM_020366.4(RPGRIP1):c.3170A>T (p.His1057Leu)
|
rs201521970
|
0.00003
|
NM_020366.4(RPGRIP1):c.3533-4A>G
|
rs925349418
|
0.00003
|
NM_020366.4(RPGRIP1):c.3579G>A (p.Leu1193=)
|
rs779437287
|
0.00003
|
NM_020366.4(RPGRIP1):c.3749-6C>A
|
rs373373799
|
0.00003
|
NM_020366.4(RPGRIP1):c.39A>G (p.Pro13=)
|
rs769066205
|
0.00003
|
NM_020366.4(RPGRIP1):c.427G>A (p.Val143Ile)
|
rs766604917
|
0.00003
|
NM_020366.4(RPGRIP1):c.686G>T (p.Ser229Ile)
|
rs768832924
|
0.00003
|
NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val)
|
rs187598648
|
0.00003
|
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser)
|
rs780673799
|
0.00003
|
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe)
|
rs756365691
|
0.00002
|
NM_020366.4(RPGRIP1):c.1173C>G (p.Ser391Arg)
|
rs373962100
|
0.00002
|
NM_020366.4(RPGRIP1):c.1295C>T (p.Ser432Phe)
|
rs190985984
|
0.00002
|
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=)
|
rs184853466
|
0.00002
|
NM_020366.4(RPGRIP1):c.1464C>T (p.Ile488=)
|
rs370711678
|
0.00002
|
NM_020366.4(RPGRIP1):c.1578T>C (p.Leu526=)
|
rs371653245
|
0.00002
|
NM_020366.4(RPGRIP1):c.1599C>T (p.Asn533=)
|
rs191796176
|
0.00002
|
NM_020366.4(RPGRIP1):c.163G>A (p.Glu55Lys)
|
rs530008238
|
0.00002
|
NM_020366.4(RPGRIP1):c.1642G>A (p.Asp548Asn)
|
rs1223339694
|
0.00002
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00002
|
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)
|
rs535922252
|
0.00002
|
NM_020366.4(RPGRIP1):c.2112C>T (p.His704=)
|
rs764999000
|
0.00002
|
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val)
|
rs758652031
|
0.00002
|
NM_020366.4(RPGRIP1):c.2382T>C (p.Ser794=)
|
rs753463994
|
0.00002
|
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)
|
rs565837539
|
0.00002
|
NM_020366.4(RPGRIP1):c.2479C>T (p.Arg827Cys)
|
rs985883884
|
0.00002
|
NM_020366.4(RPGRIP1):c.2632G>A (p.Glu878Lys)
|
rs1019416252
|
0.00002
|
NM_020366.4(RPGRIP1):c.2711-2A>G
|
rs766443371
|
0.00002
|
NM_020366.4(RPGRIP1):c.2932G>A (p.Gly978Ser)
|
rs754582695
|
0.00002
|
NM_020366.4(RPGRIP1):c.3238+4T>C
|
rs748207531
|
0.00002
|
NM_020366.4(RPGRIP1):c.3289G>A (p.Asp1097Asn)
|
rs779356445
|
0.00002
|
NM_020366.4(RPGRIP1):c.3428A>G (p.Tyr1143Cys)
|
rs765299022
|
0.00002
|
NM_020366.4(RPGRIP1):c.3582C>T (p.Phe1194=)
|
rs746471434
|
0.00002
|
NM_020366.4(RPGRIP1):c.3760G>A (p.Glu1254Lys)
|
rs370728861
|
0.00002
|
NM_020366.4(RPGRIP1):c.3779T>C (p.Ile1260Thr)
|
rs752222755
|
0.00002
|
NM_020366.4(RPGRIP1):c.3821A>G (p.His1274Arg)
|
rs758718790
|
0.00002
|
NM_020366.4(RPGRIP1):c.3859T>C (p.Ter1287Arg)
|
rs1029178575
|
0.00002
|
NM_020366.4(RPGRIP1):c.468G>A (p.Pro156=)
|
rs1486358089
|
0.00002
|
NM_020366.4(RPGRIP1):c.594T>C (p.Ser198=)
|
rs764044384
|
0.00002
|
NM_020366.4(RPGRIP1):c.654A>G (p.Leu218=)
|
rs755671651
|
0.00002
|
NM_020366.4(RPGRIP1):c.678C>A (p.Ile226=)
|
rs368948798
|
0.00002
|
NM_020366.4(RPGRIP1):c.683C>T (p.Ala228Val)
|
rs756504836
|
0.00002
|
NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu)
|
rs755322533
|
0.00002
|
NM_020366.4(RPGRIP1):c.987C>T (p.Leu329=)
|
rs762003618
|
0.00002
|
NM_020366.4(RPGRIP1):c.1018G>T (p.Ala340Ser)
|
rs1881555303
|
0.00001
|
NM_020366.4(RPGRIP1):c.1077+19A>T
|
rs975867738
|
0.00001
|
NM_020366.4(RPGRIP1):c.1078-4T>G
|
rs548990299
|
0.00001
|
NM_020366.4(RPGRIP1):c.1134T>C (p.Tyr378=)
|
rs1395270436
|
0.00001
|
NM_020366.4(RPGRIP1):c.1135G>A (p.Asp379Asn)
|
rs758038121
|
0.00001
|
NM_020366.4(RPGRIP1):c.1185C>T (p.Pro395=)
|
rs961245689
|
0.00001
|
NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter)
|
rs775425686
|
0.00001
|
NM_020366.4(RPGRIP1):c.1238T>G (p.Leu413Arg)
|
rs1486475994
|
0.00001
|
NM_020366.4(RPGRIP1):c.1248G>A (p.Gln416=)
|
rs751275677
|
0.00001
|
NM_020366.4(RPGRIP1):c.128G>A (p.Arg43Gln)
|
rs762187880
|
0.00001
|
NM_020366.4(RPGRIP1):c.1326G>T (p.Lys442Asn)
|
rs375450848
|
0.00001
|
NM_020366.4(RPGRIP1):c.1340A>G (p.Asn447Ser)
|
rs1342579243
|
0.00001
|
NM_020366.4(RPGRIP1):c.1439C>G (p.Ala480Gly)
|
rs1882241075
|
0.00001
|
NM_020366.4(RPGRIP1):c.1446G>C (p.Leu482Phe)
|
rs200541068
|
0.00001
|
NM_020366.4(RPGRIP1):c.1467+1G>A
|
rs1167313603
|
0.00001
|
NM_020366.4(RPGRIP1):c.1468-8C>T
|
rs766228869
|
0.00001
|
NM_020366.4(RPGRIP1):c.1475A>G (p.Glu492Gly)
|
rs1161752701
|
0.00001
|
NM_020366.4(RPGRIP1):c.1519G>A (p.Glu507Lys)
|
rs1882436936
|
0.00001
|
NM_020366.4(RPGRIP1):c.1544C>A (p.Thr515Asn)
|
rs762856248
|
0.00001
|
NM_020366.4(RPGRIP1):c.1612-16C>T
|
rs372233468
|
0.00001
|
NM_020366.4(RPGRIP1):c.162C>T (p.Arg54=)
|
rs765765074
|
0.00001
|
NM_020366.4(RPGRIP1):c.1634C>T (p.Thr545Ile)
|
rs778389059
|
0.00001
|
NM_020366.4(RPGRIP1):c.1650T>C (p.Asp550=)
|
rs369088337
|
0.00001
|
NM_020366.4(RPGRIP1):c.1688G>A (p.Arg563Gln)
|
rs145055116
|
0.00001
|
NM_020366.4(RPGRIP1):c.1726G>A (p.Glu576Lys)
|
rs1448903303
|
0.00001
|
NM_020366.4(RPGRIP1):c.1791C>T (p.Thr597=)
|
rs1416373215
|
0.00001
|
NM_020366.4(RPGRIP1):c.1856C>T (p.Ser619Phe)
|
rs779121574
|
0.00001
|
NM_020366.4(RPGRIP1):c.1884T>C (p.Phe628=)
|
rs200491247
|
0.00001
|
NM_020366.4(RPGRIP1):c.1898A>G (p.His633Arg)
|
rs774019346
|
0.00001
|
NM_020366.4(RPGRIP1):c.1899C>T (p.His633=)
|
rs759142742
|
0.00001
|
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr)
|
rs753575515
|
0.00001
|
NM_020366.4(RPGRIP1):c.1949C>T (p.Pro650Leu)
|
rs769167245
|
0.00001
|
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys)
|
rs1278572461
|
0.00001
|
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu)
|
rs1348186141
|
0.00001
|
NM_020366.4(RPGRIP1):c.2099G>A (p.Arg700Gln)
|
rs768190736
|
0.00001
|
NM_020366.4(RPGRIP1):c.218+7dup
|
rs1319812899
|
0.00001
|
NM_020366.4(RPGRIP1):c.2212A>G (p.Ile738Val)
|
rs774600464
|
0.00001
|
NM_020366.4(RPGRIP1):c.2215+6T>C
|
rs767555070
|
0.00001
|
NM_020366.4(RPGRIP1):c.2215+8C>T
|
rs1163623603
|
0.00001
|
NM_020366.4(RPGRIP1):c.2235C>T (p.Phe745=)
|
rs767808334
|
0.00001
|
NM_020366.4(RPGRIP1):c.2285T>C (p.Leu762Pro)
|
rs199593721
|
0.00001
|
NM_020366.4(RPGRIP1):c.2286A>G (p.Leu762=)
|
rs1276632598
|
0.00001
|
NM_020366.4(RPGRIP1):c.2294G>A (p.Cys765Tyr)
|
rs1413996964
|
0.00001
|
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)
|
rs577932201
|
0.00001
|
NM_020366.4(RPGRIP1):c.2335G>C (p.Val779Leu)
|
rs1050643789
|
0.00001
|
NM_020366.4(RPGRIP1):c.2336T>C (p.Val779Ala)
|
rs1195674447
|
0.00001
|
NM_020366.4(RPGRIP1):c.2347C>T (p.Arg783Trp)
|
rs765878033
|
0.00001
|
NM_020366.4(RPGRIP1):c.2361A>T (p.Glu787Asp)
|
rs1427873310
|
0.00001
|
NM_020366.4(RPGRIP1):c.2367+20G>A
|
rs374576752
|
0.00001
|
NM_020366.4(RPGRIP1):c.2389C>T (p.Pro797Ser)
|
rs750432423
|
0.00001
|
NM_020366.4(RPGRIP1):c.240G>A (p.Arg80=)
|
rs1881000292
|
0.00001
|
NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu)
|
rs372647080
|
0.00001
|
NM_020366.4(RPGRIP1):c.2527A>G (p.Asn843Asp)
|
rs762420632
|
0.00001
|
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)
|
rs1429786931
|
0.00001
|
NM_020366.4(RPGRIP1):c.2557T>G (p.Phe853Val)
|
rs755901634
|
0.00001
|
NM_020366.4(RPGRIP1):c.2614A>G (p.Ile872Val)
|
rs747355604
|
0.00001
|
NM_020366.4(RPGRIP1):c.2620G>A (p.Val874Ile)
|
rs774012865
|
0.00001
|
NM_020366.4(RPGRIP1):c.267G>A (p.Arg89=)
|
rs1025250925
|
0.00001
|
NM_020366.4(RPGRIP1):c.2693A>G (p.Lys898Arg)
|
rs1330207465
|
0.00001
|
NM_020366.4(RPGRIP1):c.2700A>G (p.Glu900=)
|
rs781608496
|
0.00001
|
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)
|
rs398124354
|
0.00001
|
NM_020366.4(RPGRIP1):c.2784C>T (p.Pro928=)
|
rs1056222442
|
0.00001
|
NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs)
|
rs1881002905
|
0.00001
|
NM_020366.4(RPGRIP1):c.2864C>T (p.Ser955Phe)
|
rs1437116017
|
0.00001
|
NM_020366.4(RPGRIP1):c.2875A>G (p.Lys959Glu)
|
rs758124463
|
0.00001
|
NM_020366.4(RPGRIP1):c.2877G>A (p.Lys959=)
|
rs1405792437
|
0.00001
|
NM_020366.4(RPGRIP1):c.2895+1G>T
|
rs748072501
|
0.00001
|
NM_020366.4(RPGRIP1):c.2895+3A>G
|
rs769634650
|
0.00001
|
NM_020366.4(RPGRIP1):c.2902A>G (p.Met968Val)
|
rs552951112
|
0.00001
|
NM_020366.4(RPGRIP1):c.2907A>G (p.Ala969=)
|
rs751139588
|
0.00001
|
NM_020366.4(RPGRIP1):c.2916G>T (p.Glu972Asp)
|
rs1233085262
|
0.00001
|
NM_020366.4(RPGRIP1):c.2964T>A (p.His988Gln)
|
rs1883351019
|
0.00001
|
NM_020366.4(RPGRIP1):c.2987A>G (p.Glu996Gly)
|
rs1254110768
|
0.00001
|
NM_020366.4(RPGRIP1):c.3057G>A (p.Met1019Ile)
|
rs374298935
|
0.00001
|
NM_020366.4(RPGRIP1):c.3124T>A (p.Phe1042Ile)
|
rs988867957
|
0.00001
|
NM_020366.4(RPGRIP1):c.3137A>T (p.Asn1046Ile)
|
rs1883600054
|
0.00001
|
NM_020366.4(RPGRIP1):c.3223C>G (p.Leu1075Val)
|
rs550094754
|
0.00001
|
NM_020366.4(RPGRIP1):c.3227A>G (p.His1076Arg)
|
rs1396404319
|
0.00001
|
NM_020366.4(RPGRIP1):c.3239-14C>T
|
rs542859849
|
0.00001
|
NM_020366.4(RPGRIP1):c.3239-17A>C
|
rs1777618184
|
0.00001
|
NM_020366.4(RPGRIP1):c.3259G>A (p.Gly1087Ser)
|
rs756204198
|
0.00001
|
NM_020366.4(RPGRIP1):c.3288C>T (p.Thr1096=)
|
rs771436916
|
0.00001
|
NM_020366.4(RPGRIP1):c.3364A>G (p.Ile1122Val)
|
rs1363679912
|
0.00001
|
NM_020366.4(RPGRIP1):c.339C>A (p.Leu113=)
|
rs758436075
|
0.00001
|
NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=)
|
rs398124355
|
0.00001
|
NM_020366.4(RPGRIP1):c.344T>G (p.Met115Arg)
|
rs752159774
|
0.00001
|
NM_020366.4(RPGRIP1):c.3450C>G (p.Asp1150Glu)
|
rs527354795
|
0.00001
|
NM_020366.4(RPGRIP1):c.3462G>A (p.Ser1154=)
|
rs772065227
|
0.00001
|
NM_020366.4(RPGRIP1):c.3503G>T (p.Gly1168Val)
|
rs763866704
|
0.00001
|
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)
|
rs752175052
|
0.00001
|
NM_020366.4(RPGRIP1):c.356C>T (p.Pro119Leu)
|
rs770129842
|
0.00001
|
NM_020366.4(RPGRIP1):c.3587T>A (p.Met1196Lys)
|
rs769554584
|
0.00001
|
NM_020366.4(RPGRIP1):c.3617+1G>T
|
rs771116776
|
0.00001
|
NM_020366.4(RPGRIP1):c.3651T>G (p.Asp1217Glu)
|
rs1316957086
|
0.00001
|
NM_020366.4(RPGRIP1):c.3738A>G (p.Gln1246=)
|
rs751191642
|
0.00001
|
NM_020366.4(RPGRIP1):c.3766C>G (p.Leu1256Val)
|
rs1405508889
|
0.00001
|
NM_020366.4(RPGRIP1):c.3773C>T (p.Thr1258Ile)
|
rs759191514
|
0.00001
|
NM_020366.4(RPGRIP1):c.3780A>T (p.Ile1260=)
|
rs281865294
|
0.00001
|
NM_020366.4(RPGRIP1):c.3791A>G (p.Lys1264Arg)
|
rs753788745
|
0.00001
|
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs)
|
rs1468976582
|
0.00001
|
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile)
|
rs778860397
|
0.00001
|
NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu)
|
rs547876047
|
0.00001
|
NM_020366.4(RPGRIP1):c.416C>T (p.Ala139Val)
|
rs1169371081
|
0.00001
|
NM_020366.4(RPGRIP1):c.493C>G (p.Pro165Ala)
|
rs199840691
|
0.00001
|
NM_020366.4(RPGRIP1):c.498G>A (p.Arg166=)
|
rs1002507485
|
0.00001
|
NM_020366.4(RPGRIP1):c.519C>A (p.Ala173=)
|
rs754509080
|
0.00001
|
NM_020366.4(RPGRIP1):c.521C>T (p.Pro174Leu)
|
rs780733881
|
0.00001
|
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=)
|
rs574462207
|
0.00001
|
NM_020366.4(RPGRIP1):c.61C>T (p.Pro21Ser)
|
rs1032222606
|
0.00001
|
NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter)
|
rs1233376985
|
0.00001
|
NM_020366.4(RPGRIP1):c.667A>G (p.Ser223Gly)
|
rs1285531904
|
0.00001
|
NM_020366.4(RPGRIP1):c.680T>C (p.Met227Thr)
|
rs371994477
|
0.00001
|
NM_020366.4(RPGRIP1):c.708G>A (p.Glu236=)
|
rs770273789
|
0.00001
|
NM_020366.4(RPGRIP1):c.728A>C (p.Lys243Thr)
|
rs766603726
|
0.00001
|
NM_020366.4(RPGRIP1):c.769T>C (p.Leu257=)
|
rs537769664
|
0.00001
|
NM_020366.4(RPGRIP1):c.800+1G>A
|
rs376500610
|
0.00001
|
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)
|
rs758239674
|
0.00001
|
NM_020366.4(RPGRIP1):c.80C>T (p.Ser27Leu)
|
rs569126479
|
0.00001
|
NM_020366.4(RPGRIP1):c.85+20A>T
|
rs761987893
|
0.00001
|
NM_020366.4(RPGRIP1):c.86-1G>A
|
rs200968268
|
0.00001
|
NM_020366.4(RPGRIP1):c.860A>G (p.Asn287Ser)
|
rs937927408
|
0.00001
|
NM_020366.4(RPGRIP1):c.867A>T (p.Ser289=)
|
rs892708678
|
0.00001
|
NM_020366.4(RPGRIP1):c.868T>C (p.Leu290=)
|
rs1825368121
|
0.00001
|
NM_020366.4(RPGRIP1):c.898del (p.Val300fs)
|
rs1566674893
|
0.00001
|
NM_020366.4(RPGRIP1):c.906+14A>G
|
rs1243025284
|
0.00001
|
NM_020366.4(RPGRIP1):c.926A>G (p.Gln309Arg)
|
rs757291015
|
0.00001
|
NM_020366.4(RPGRIP1):c.931-2A>G
|
rs374188857
|
0.00001
|
NM_020366.4(RPGRIP1):c.939A>T (p.Gly313=)
|
rs917609289
|
0.00001
|
NM_020366.4(RPGRIP1):c.953C>T (p.Ala318Val)
|
rs1325466987
|
0.00001
|
NM_020366.4(RPGRIP1):c.957T>G (p.His319Gln)
|
rs778477037
|
0.00001
|
NM_020366.4(RPGRIP1):c.965T>C (p.Leu322Pro)
|
rs1214509629
|
0.00001
|
NC_000014.8:g.(?_21671278)_(22005055_?)dup
|
|
|
NC_000014.8:g.(?_21756136)_(21756240_?)del
|
|
|
NC_000014.8:g.(?_21756136)_(21780685_?)dup
|
|
|
NC_000014.8:g.(?_21756136)_(22005055_?)del
|
|
|
NC_000014.8:g.(?_21762816)_(21762988_?)dup
|
|
|
NC_000014.8:g.(?_21762816)_(21795986_?)del
|
|
|
NC_000014.8:g.(?_21762977)_(21770303_?)del
|
|
|
NC_000014.8:g.(?_21766946)_(21770647_?)del
|
|
|
NC_000014.8:g.(?_21769105)_(21794352_?)dup
|
|
|
NC_000014.8:g.(?_21785835)_(21786029_?)del
|
|
|
NC_000014.8:g.(?_21785835)_(21788356_?)del
|
|
|
NC_000014.8:g.(?_21785835)_(21796806_?)del
|
|
|
NC_000014.8:g.(?_21792757)_(21819375_?)dup
|
|
|
NC_000014.8:g.(?_21793972)_(21794928_?)del
|
|
|
NC_000014.8:g.(?_21795762)_(21798566_?)del
|
|
|
NC_000014.8:g.(?_21795782)_(21795966_?)del
|
|
|
NC_000014.8:g.(?_21796563)_(21796806_?)del
|
|
|
NC_000014.8:g.(?_21798388)_(21798566_?)del
|
|
|
NC_000014.8:g.(?_21798388)_(21798566_?)dup
|
|
|
NC_000014.8:g.(?_21819243)_(21819375_?)del
|
|
|
NC_000014.9:g.(?_21287977)_(21288061_?)dup
|
|
|
NC_000014.9:g.(?_21317696)_(21320177_?)del
|
|
|
NC_000014.9:g.(?_21317696)_(21330387_?)dup
|
|
|
NC_000014.9:g.(?_21320017)_(21334705_?)dup
|
|
|
NC_000014.9:g.(?_21327623)_(21330387_?)del
|
|
|
NM_020366.4(RPGRIP1):c.1011C>G (p.Ser337Arg)
|
rs2139175426
|
|
NM_020366.4(RPGRIP1):c.1013A>G (p.Lys338Arg)
|
|
|
NM_020366.4(RPGRIP1):c.1077+3A>G
|
|
|
NM_020366.4(RPGRIP1):c.1078-16C>T
|
|
|
NM_020366.4(RPGRIP1):c.1078-5C>G
|
|
|
NM_020366.4(RPGRIP1):c.107C>A (p.Pro36Gln)
|
rs189509077
|
|
NM_020366.4(RPGRIP1):c.1084G>A (p.Glu362Lys)
|
|
|
NM_020366.4(RPGRIP1):c.1087_1090del (p.Arg363fs)
|
|
|
NM_020366.4(RPGRIP1):c.1089_1090dup (p.Val364fs)
|
rs768719934
|
|
NM_020366.4(RPGRIP1):c.1092T>C (p.Val364=)
|
rs2139176256
|
|
NM_020366.4(RPGRIP1):c.10C>A (p.Leu4Met)
|
rs1462796890
|
|
NM_020366.4(RPGRIP1):c.1107A>G (p.Lys369=)
|
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)
|
rs776880045
|
|
NM_020366.4(RPGRIP1):c.1118T>C (p.Leu373Ser)
|
|
|
NM_020366.4(RPGRIP1):c.111C>A (p.Pro37=)
|
|
|
NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter)
|
rs2139176356
|
|
NM_020366.4(RPGRIP1):c.1151+12A>G
|
|
|
NM_020366.4(RPGRIP1):c.1165A>T (p.Ser389Cys)
|
|
|
NM_020366.4(RPGRIP1):c.1197C>A (p.Asn399Lys)
|
|
|
NM_020366.4(RPGRIP1):c.1203C>T (p.Leu401=)
|
rs2139188065
|
|
NM_020366.4(RPGRIP1):c.1208C>T (p.Ala403Val)
|
rs779216995
|
|
NM_020366.4(RPGRIP1):c.1209G>A (p.Ala403=)
|
|
|
NM_020366.4(RPGRIP1):c.1220dup (p.Gln408fs)
|
|
|
NM_020366.4(RPGRIP1):c.1226A>G (p.Gln409Arg)
|
|
|
NM_020366.4(RPGRIP1):c.1227A>G (p.Gln409=)
|
|
|
NM_020366.4(RPGRIP1):c.1239G>A (p.Leu413=)
|
|
|
NM_020366.4(RPGRIP1):c.1243del (p.Asp415fs)
|
|
|
NM_020366.4(RPGRIP1):c.1268A>G (p.Asp423Gly)
|
|
|
NM_020366.4(RPGRIP1):c.127C>G (p.Arg43Gly)
|
rs751975588
|
|
NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp)
|
rs751975588
|
|
NM_020366.4(RPGRIP1):c.1285C>G (p.Leu429Val)
|
rs2139188464
|
|
NM_020366.4(RPGRIP1):c.1286T>G (p.Leu429Arg)
|
rs1052124836
|
|
NM_020366.4(RPGRIP1):c.1290G>A (p.Glu430=)
|
rs1881927011
|
|
NM_020366.4(RPGRIP1):c.1296C>T (p.Ser432=)
|
|
|
NM_020366.4(RPGRIP1):c.1299G>A (p.Arg433=)
|
|
|
NM_020366.4(RPGRIP1):c.12G>A (p.Leu4=)
|
|
|
NM_020366.4(RPGRIP1):c.1306+19A>G
|
rs2139188641
|
|
NM_020366.4(RPGRIP1):c.1307-9T>G
|
|
|
NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)
|
|
|
NM_020366.4(RPGRIP1):c.1320T>G (p.Asp440Glu)
|
rs1882224897
|
|
NM_020366.4(RPGRIP1):c.1326G>A (p.Lys442=)
|
rs375450848
|
|
NM_020366.4(RPGRIP1):c.1335C>G (p.Val445=)
|
rs2139199941
|
|
NM_020366.4(RPGRIP1):c.1352A>C (p.Lys451Thr)
|
rs1882228306
|
|
NM_020366.4(RPGRIP1):c.1363del (p.Glu455fs)
|
rs763671264
|
|
NM_020366.4(RPGRIP1):c.136T>C (p.Leu46=)
|
|
|
NM_020366.4(RPGRIP1):c.1378C>A (p.Gln460Lys)
|
rs1385302435
|
|
NM_020366.4(RPGRIP1):c.137T>C (p.Leu46Ser)
|
|
|
NM_020366.4(RPGRIP1):c.138GGA[1] (p.Glu47del)
|
|
|
NM_020366.4(RPGRIP1):c.1392A>T (p.Thr464=)
|
rs954065821
|
|
NM_020366.4(RPGRIP1):c.140A>G (p.Glu47Gly)
|
rs2139144675
|
|
NM_020366.4(RPGRIP1):c.1413G>A (p.Arg471=)
|
rs1017455134
|
|
NM_020366.4(RPGRIP1):c.1416A>G (p.Gln472=)
|
rs776264535
|
|
NM_020366.4(RPGRIP1):c.1418C>G (p.Ser473Cys)
|
rs1882237224
|
|
NM_020366.4(RPGRIP1):c.141G>A (p.Glu47=)
|
|
|
NM_020366.4(RPGRIP1):c.1430C>A (p.Thr477Asn)
|
rs2139200427
|
|
NM_020366.4(RPGRIP1):c.1434C>T (p.His478=)
|
|
|
NM_020366.4(RPGRIP1):c.1447C>A (p.Gln483Lys)
|
rs368781265
|
|
NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter)
|
rs368781265
|
|
NM_020366.4(RPGRIP1):c.1451A>G (p.Glu484Gly)
|
rs2139200567
|
|
NM_020366.4(RPGRIP1):c.1456A>G (p.Thr486Ala)
|
|
|
NM_020366.4(RPGRIP1):c.1457C>T (p.Thr486Ile)
|
rs1882245032
|
|
NM_020366.4(RPGRIP1):c.1464C>G (p.Ile488Met)
|
|
|
NM_020366.4(RPGRIP1):c.1467+11C>G
|
|
|
NM_020366.4(RPGRIP1):c.1468-15C>A
|
|
|
NM_020366.4(RPGRIP1):c.1468-15C>T
|
rs557262153
|
|
NM_020366.4(RPGRIP1):c.1468-16G>A
|
|
|
NM_020366.4(RPGRIP1):c.1472G>C (p.Ser491Thr)
|
|
|
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs)
|
rs1181453325
|
|
NM_020366.4(RPGRIP1):c.1506C>G (p.Ser502=)
|
rs777877901
|
|
NM_020366.4(RPGRIP1):c.1537G>A (p.Ala513Thr)
|
rs763392584
|
|
NM_020366.4(RPGRIP1):c.1537G>T (p.Ala513Ser)
|
rs763392584
|
|
NM_020366.4(RPGRIP1):c.155G>A (p.Arg52Gln)
|
rs374171080
|
|
NM_020366.4(RPGRIP1):c.1563G>C (p.Lys521Asn)
|
|
|
NM_020366.4(RPGRIP1):c.1569G>A (p.Arg523=)
|
rs775613696
|
|
NM_020366.4(RPGRIP1):c.1573A>G (p.Met525Val)
|
|
|
NM_020366.4(RPGRIP1):c.1578T>A (p.Leu526=)
|
rs371653245
|
|
NM_020366.4(RPGRIP1):c.1590C>T (p.Arg530=)
|
|
|
NM_020366.4(RPGRIP1):c.1592A>G (p.Lys531Arg)
|
rs2139208888
|
|
NM_020366.4(RPGRIP1):c.1600G>C (p.Val534Leu)
|
|
|
NM_020366.4(RPGRIP1):c.1612G>A (p.Glu538Lys)
|
|
|
NM_020366.4(RPGRIP1):c.1615_1616delinsAG (p.Glu539Arg)
|
rs2139211228
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020366.4(RPGRIP1):c.1631T>A (p.Met544Lys)
|
rs748892211
|
|
NM_020366.4(RPGRIP1):c.1646del (p.Asn549fs)
|
|
|
NM_020366.4(RPGRIP1):c.1647T>C (p.Asn549=)
|
|
|
NM_020366.4(RPGRIP1):c.1653T>C (p.Asn551=)
|
|
|
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter)
|
rs776963292
|
|
NM_020366.4(RPGRIP1):c.1701C>G (p.Leu567=)
|
|
|
NM_020366.4(RPGRIP1):c.1711C>G (p.Arg571Gly)
|
|
|
NM_020366.4(RPGRIP1):c.1713dup (p.Ile572fs)
|
|
|
NM_020366.4(RPGRIP1):c.172A>G (p.Met58Val)
|
|
|
NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)
|
|
|
NM_020366.4(RPGRIP1):c.173T>C (p.Met58Thr)
|
rs1413728875
|
|
NM_020366.4(RPGRIP1):c.1741A>G (p.Ser581Gly)
|
|
|
NM_020366.4(RPGRIP1):c.1746T>C (p.His582=)
|
|
|
NM_020366.4(RPGRIP1):c.1757C>G (p.Thr586Arg)
|
rs1387707646
|
|
NM_020366.4(RPGRIP1):c.1763-13C>A
|
|
|
NM_020366.4(RPGRIP1):c.1763-2A>G
|
|
|
NM_020366.4(RPGRIP1):c.1763-8C>G
|
rs1408302760
|
|
NM_020366.4(RPGRIP1):c.1785T>C (p.Tyr595=)
|
|
|
NM_020366.4(RPGRIP1):c.1800G>A (p.Leu600=)
|
|
|
NM_020366.4(RPGRIP1):c.1802C>G (p.Ser601Trp)
|
rs3748360
|
|
NM_020366.4(RPGRIP1):c.1802C>T (p.Ser601Leu)
|
rs3748360
|
|
NM_020366.4(RPGRIP1):c.1802_1804del (p.Ser601del)
|
rs781272475
|
|
NM_020366.4(RPGRIP1):c.181A>G (p.Lys61Glu)
|
|
|
NM_020366.4(RPGRIP1):c.1820T>A (p.Leu607Gln)
|
rs576270075
|
|
NM_020366.4(RPGRIP1):c.182A>G (p.Lys61Arg)
|
rs1192734148
|
|
NM_020366.4(RPGRIP1):c.184G>A (p.Glu62Lys)
|
rs976713441
|
|
NM_020366.4(RPGRIP1):c.1858C>T (p.Leu620=)
|
|
|
NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter)
|
rs772090790
|
|
NM_020366.4(RPGRIP1):c.1870G>C (p.Gly624Arg)
|
rs2139227241
|
|
NM_020366.4(RPGRIP1):c.1875G>T (p.Glu625Asp)
|
|
|
NM_020366.4(RPGRIP1):c.1876A>T (p.Asn626Tyr)
|
rs1882869988
|
|
NM_020366.4(RPGRIP1):c.1877A>G (p.Asn626Ser)
|
rs1247485541
|
|
NM_020366.4(RPGRIP1):c.1888C>T (p.Leu630=)
|
|
|
NM_020366.4(RPGRIP1):c.1901A>G (p.Gln634Arg)
|
rs1882874181
|
|
NM_020366.4(RPGRIP1):c.1903G>A (p.Ala635Thr)
|
|
|
NM_020366.4(RPGRIP1):c.1904C>A (p.Ala635Asp)
|
|
|
NM_020366.4(RPGRIP1):c.1909C>T (p.Leu637=)
|
|
|
NM_020366.4(RPGRIP1):c.1919C>T (p.Ala640Val)
|
|
|
NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter)
|
rs2139227650
|
|
NM_020366.4(RPGRIP1):c.1935T>A (p.Ala645=)
|
|
|
NM_020366.4(RPGRIP1):c.1945C>A (p.Gln649Lys)
|
rs747575530
|
|
NM_020366.4(RPGRIP1):c.1949C>G (p.Pro650Arg)
|
rs769167245
|
|
NM_020366.4(RPGRIP1):c.1954A>G (p.Thr652Ala)
|
|
|
NM_020366.4(RPGRIP1):c.1970C>T (p.Ser657Phe)
|
|
|
NM_020366.4(RPGRIP1):c.1976A>C (p.Tyr659Ser)
|
rs1278572461
|
|
NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter)
|
rs1225223445
|
|
NM_020366.4(RPGRIP1):c.2017C>T (p.Gln673Ter)
|
rs1566341956
|
|
NM_020366.4(RPGRIP1):c.2019G>A (p.Gln673=)
|
rs2139228327
|
|
NM_020366.4(RPGRIP1):c.2024del (p.Leu675fs)
|
rs2139228423
|
|
NM_020366.4(RPGRIP1):c.2036C>T (p.Thr679Ile)
|
rs2139228509
|
|
NM_020366.4(RPGRIP1):c.203A>G (p.Gln68Arg)
|
rs1880693286
|
|
NM_020366.4(RPGRIP1):c.2047G>A (p.Val683Met)
|
|
|
NM_020366.4(RPGRIP1):c.2048T>C (p.Val683Ala)
|
|
|
NM_020366.4(RPGRIP1):c.2054A>G (p.Glu685Gly)
|
|
|
NM_020366.4(RPGRIP1):c.2059G>C (p.Asp687His)
|
rs780193224
|
|
NM_020366.4(RPGRIP1):c.2064G>A (p.Ser688=)
|
|
|
NM_020366.4(RPGRIP1):c.2076C>T (p.His692=)
|
|
|
NM_020366.4(RPGRIP1):c.2084A>G (p.Gln695Arg)
|
|
|
NM_020366.4(RPGRIP1):c.2087A>C (p.Glu696Ala)
|
|
|
NM_020366.4(RPGRIP1):c.2098C>A (p.Arg700=)
|
rs775239691
|
|
NM_020366.4(RPGRIP1):c.2098C>G (p.Arg700Gly)
|
|
|
NM_020366.4(RPGRIP1):c.2098C>T (p.Arg700Trp)
|
rs775239691
|
|
NM_020366.4(RPGRIP1):c.2100G>C (p.Arg700=)
|
rs369515171
|
|
NM_020366.4(RPGRIP1):c.2159G>A (p.Cys720Tyr)
|
rs1882916452
|
|
NM_020366.4(RPGRIP1):c.2172G>A (p.Val724=)
|
|
|
NM_020366.4(RPGRIP1):c.218+9A>G
|
|
|
NM_020366.4(RPGRIP1):c.219-16C>T
|
rs1880998821
|
|
NM_020366.4(RPGRIP1):c.219-17G>T
|
rs1399266958
|
|
NM_020366.4(RPGRIP1):c.219-2A>G
|
rs1880999471
|
|
NM_020366.4(RPGRIP1):c.2202G>A (p.Leu734=)
|
|
|
NM_020366.4(RPGRIP1):c.2213T>C (p.Ile738Thr)
|
|
|
NM_020366.4(RPGRIP1):c.2215+10G>A
|
|
|
NM_020366.4(RPGRIP1):c.2216-13T>G
|
rs1882942396
|
|
NM_020366.4(RPGRIP1):c.2216-15C>G
|
|
|
NM_020366.4(RPGRIP1):c.2216-1G>A
|
rs970696880
|
|
NM_020366.4(RPGRIP1):c.2224G>A (p.Gly742Arg)
|
|
|
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
|
|
|
NM_020366.4(RPGRIP1):c.2260C>T (p.Leu754=)
|
rs2139231465
|
|
NM_020366.4(RPGRIP1):c.2263C>T (p.Arg755Cys)
|
|
|
NM_020366.4(RPGRIP1):c.2264G>A (p.Arg755His)
|
|
|
NM_020366.4(RPGRIP1):c.2271C>G (p.Pro757=)
|
|
|
NM_020366.4(RPGRIP1):c.2280C>G (p.Pro760=)
|
rs2139231577
|
|
NM_020366.4(RPGRIP1):c.2289G>A (p.Gln763=)
|
rs2139231696
|
|
NM_020366.4(RPGRIP1):c.2300A>C (p.Lys767Thr)
|
rs1594214205
|
|
NM_020366.4(RPGRIP1):c.2307G>A (p.Lys769=)
|
|
|
NM_020366.4(RPGRIP1):c.2308A>C (p.Lys770Gln)
|
rs745694912
|
|
NM_020366.4(RPGRIP1):c.2308_2311del (p.Lys770fs)
|
rs1412625438
|
|
NM_020366.4(RPGRIP1):c.2313C>T (p.Ala771=)
|
|
|
NM_020366.4(RPGRIP1):c.2317G>T (p.Val773Phe)
|
|
|
NM_020366.4(RPGRIP1):c.2330C>G (p.Thr777Ser)
|
rs1483742101
|
|
NM_020366.4(RPGRIP1):c.2331C>A (p.Thr777=)
|
|
|
NM_020366.4(RPGRIP1):c.2332G>A (p.Asp778Asn)
|
|
|
NM_020366.4(RPGRIP1):c.2348G>A (p.Arg783Gln)
|
|
|
NM_020366.4(RPGRIP1):c.2361A>G (p.Glu787=)
|
|
|
NM_020366.4(RPGRIP1):c.2362G>A (p.Glu788Lys)
|
rs2139232422
|
|
NM_020366.4(RPGRIP1):c.2367+16T>C
|
|
|
NM_020366.4(RPGRIP1):c.2367+1G>A
|
rs1882968821
|
|
NM_020366.4(RPGRIP1):c.2367G>A (p.Glu789=)
|
|
|
NM_020366.4(RPGRIP1):c.2368-15C>G
|
rs993638684
|
|
NM_020366.4(RPGRIP1):c.2388A>G (p.Glu796=)
|
rs764645510
|
|
NM_020366.4(RPGRIP1):c.2388A>T (p.Glu796Asp)
|
|
|
NM_020366.4(RPGRIP1):c.238C>G (p.Arg80Gly)
|
|
|
NM_020366.4(RPGRIP1):c.2392C>G (p.Gln798Glu)
|
rs1883030065
|
|
NM_020366.4(RPGRIP1):c.2398G>C (p.Glu800Gln)
|
|
|
NM_020366.4(RPGRIP1):c.2410G>A (p.Glu804Lys)
|
|
|
NM_020366.4(RPGRIP1):c.2417C>G (p.Thr806Ser)
|
|
|
NM_020366.4(RPGRIP1):c.2425T>C (p.Cys809Arg)
|
|
|
NM_020366.4(RPGRIP1):c.2434C>T (p.Arg812Trp)
|
|
|
NM_020366.4(RPGRIP1):c.2440C>A (p.Arg814=)
|
rs759940113
|
|
NM_020366.4(RPGRIP1):c.2441G>A (p.Arg814Gln)
|
|
|
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs)
|
rs1739469293
|
|
NM_020366.4(RPGRIP1):c.2446C>A (p.Leu816Met)
|
rs761438226
|
|
NM_020366.4(RPGRIP1):c.2448G>C (p.Leu816=)
|
rs967192107
|
|
NM_020366.4(RPGRIP1):c.245C>T (p.Thr82Ile)
|
|
|
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)
|
rs745741473
|
|
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)
|
rs751521888
|
|
NM_020366.4(RPGRIP1):c.2499C>T (p.Asp833=)
|
|
|
NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)
|
|
|
NM_020366.4(RPGRIP1):c.2504A>G (p.Asp835Gly)
|
rs749361825
|
|
NM_020366.4(RPGRIP1):c.2507C>A (p.Thr836Asn)
|
rs771018578
|
|
NM_020366.4(RPGRIP1):c.2514C>T (p.Ile838=)
|
rs775845491
|
|
NM_020366.4(RPGRIP1):c.2515A>G (p.Ile839Val)
|
rs1231166099
|
|
NM_020366.4(RPGRIP1):c.2523C>T (p.Ala841=)
|
rs1483414787
|
|
NM_020366.4(RPGRIP1):c.2551G>A (p.Ala851Thr)
|
|
|
NM_020366.4(RPGRIP1):c.2573C>T (p.Thr858Ile)
|
|
|
NM_020366.4(RPGRIP1):c.2591A>T (p.Tyr864Phe)
|
|
|
NM_020366.4(RPGRIP1):c.2594T>C (p.Leu865Pro)
|
rs1883066106
|
|
NM_020366.4(RPGRIP1):c.2611T>C (p.Ser871Pro)
|
|
|
NM_020366.4(RPGRIP1):c.2617C>G (p.His873Asp)
|
|
|
NM_020366.4(RPGRIP1):c.2652G>A (p.Ser884=)
|
|
|
NM_020366.4(RPGRIP1):c.2652G>C (p.Ser884=)
|
rs754062559
|
|
NM_020366.4(RPGRIP1):c.2658T>C (p.Leu886=)
|
rs2139237303
|
|
NM_020366.4(RPGRIP1):c.265C>A (p.Arg89=)
|
|
|
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter)
|
rs780587095
|
|
NM_020366.4(RPGRIP1):c.266G>A (p.Arg89Gln)
|
|
|
NM_020366.4(RPGRIP1):c.2684C>A (p.Pro895His)
|
rs2139237508
|
|
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile)
|
rs1057519200
|
|
NM_020366.4(RPGRIP1):c.2692A>G (p.Lys898Glu)
|
rs1182119707
|
|
NM_020366.4(RPGRIP1):c.2706C>T (p.Ile902=)
|
|
|
NM_020366.4(RPGRIP1):c.270C>G (p.Val90=)
|
|
|
NM_020366.4(RPGRIP1):c.2710+10C>T
|
|
|
NM_020366.4(RPGRIP1):c.2710+7G>C
|
|
|
NM_020366.4(RPGRIP1):c.2710G>A (p.Gly904Ser)
|
rs918924266
|
|
NM_020366.4(RPGRIP1):c.2711-3C>T
|
|
|
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)
|
rs776289402
|
|
NM_020366.4(RPGRIP1):c.2721C>A (p.Asn907Lys)
|
|
|
NM_020366.4(RPGRIP1):c.2738A>G (p.Glu913Gly)
|
|
|
NM_020366.4(RPGRIP1):c.2748C>T (p.Asn916=)
|
|
|
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)
|
rs61751270
|
|
NM_020366.4(RPGRIP1):c.2776A>G (p.Lys926Glu)
|
rs1883253921
|
|
NM_020366.4(RPGRIP1):c.277G>C (p.Glu93Gln)
|
|
|
NM_020366.4(RPGRIP1):c.2781del (p.Tyr929fs)
|
rs1883254940
|
|
NM_020366.4(RPGRIP1):c.2794C>A (p.Pro932Thr)
|
|
|
NM_020366.4(RPGRIP1):c.2801G>C (p.Ser934Thr)
|
|
|
NM_020366.4(RPGRIP1):c.2818G>C (p.Ala940Pro)
|
rs376805437
|
|
NM_020366.4(RPGRIP1):c.2821C>G (p.Gln941Glu)
|
rs2139246200
|
|
NM_020366.4(RPGRIP1):c.2827A>G (p.Lys943Glu)
|
rs2139246249
|
|
NM_020366.4(RPGRIP1):c.2829G>A (p.Lys943=)
|
|
|
NM_020366.4(RPGRIP1):c.2832G>A (p.Gly944=)
|
rs1883263391
|
|
NM_020366.4(RPGRIP1):c.2865T>G (p.Ser955=)
|
|
|
NM_020366.4(RPGRIP1):c.2874A>G (p.Glu958=)
|
rs1439287091
|
|
NM_020366.4(RPGRIP1):c.2878G>A (p.Ala960Thr)
|
rs35810926
|
|
NM_020366.4(RPGRIP1):c.2895G>C (p.Gln965His)
|
|
|
NM_020366.4(RPGRIP1):c.2910_2911del (p.Ser970_Pro971insTer)
|
|
|
NM_020366.4(RPGRIP1):c.2917G>A (p.Val973Ile)
|
|
|
NM_020366.4(RPGRIP1):c.2923A>G (p.Ile975Val)
|
rs2139250653
|
|
NM_020366.4(RPGRIP1):c.2930C>T (p.Ala977Val)
|
rs1883345867
|
|
NM_020366.4(RPGRIP1):c.2932G>C (p.Gly978Arg)
|
|
|
NM_020366.4(RPGRIP1):c.2933G>A (p.Gly978Asp)
|
|
|
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)
|
rs1371805993
|
|
NM_020366.4(RPGRIP1):c.293C>T (p.Ser98Leu)
|
rs1337129272
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020366.4(RPGRIP1):c.2948A>T (p.Lys983Met)
|
|
|
NM_020366.4(RPGRIP1):c.2960C>T (p.Pro987Leu)
|
rs2139250992
|
|
NM_020366.4(RPGRIP1):c.2963A>G (p.His988Arg)
|
|
|
NM_020366.4(RPGRIP1):c.2963A>T (p.His988Leu)
|
|
|
NM_020366.4(RPGRIP1):c.2965G>T (p.Gly989Trp)
|
rs774678526
|
|
NM_020366.4(RPGRIP1):c.2966G>T (p.Gly989Val)
|
rs1349740244
|
|
NM_020366.4(RPGRIP1):c.2969G>A (p.Gly990Glu)
|
|
|
NM_020366.4(RPGRIP1):c.2974_2984del (p.Arg992fs)
|
|
|
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs)
|
rs1594224781
|
|
NM_020366.4(RPGRIP1):c.2993A>G (p.Gln998Arg)
|
rs1883354997
|
|
NM_020366.4(RPGRIP1):c.29G>A (p.Gly10Glu)
|
rs756665749
|
|
NM_020366.4(RPGRIP1):c.3021T>C (p.His1007=)
|
rs1023525604
|
|
NM_020366.4(RPGRIP1):c.3029G>T (p.Arg1010Ile)
|
rs969637624
|
|
NM_020366.4(RPGRIP1):c.3039T>C (p.Val1013=)
|
rs765515179
|
|
NM_020366.4(RPGRIP1):c.3044G>A (p.Gly1015Glu)
|
|
|
NM_020366.4(RPGRIP1):c.3060G>A (p.Glu1020=)
|
rs997037284
|
|
NM_020366.4(RPGRIP1):c.3075C>T (p.Asn1025=)
|
|
|
NM_020366.4(RPGRIP1):c.3085G>A (p.Gly1029Arg)
|
|
|
NM_020366.4(RPGRIP1):c.3094_3095insT (p.Pro1032fs)
|
|
|
NM_020366.4(RPGRIP1):c.3099+2dup
|
rs1883370936
|
|
NM_020366.4(RPGRIP1):c.3100-1G>A
|
|
|
NM_020366.4(RPGRIP1):c.3100-3A>G
|
rs2139263237
|
|
NM_020366.4(RPGRIP1):c.3107A>C (p.Asn1036Thr)
|
rs2139263302
|
|
NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter)
|
rs2139156519
|
|
NM_020366.4(RPGRIP1):c.3140_3141delinsTT (p.Ser1047Ile)
|
rs1883601117
|
|
NM_020366.4(RPGRIP1):c.3151G>C (p.Asp1051His)
|
rs1883602777
|
|
NM_020366.4(RPGRIP1):c.3152A>C (p.Asp1051Ala)
|
rs775193329
|
|
NM_020366.4(RPGRIP1):c.3168G>A (p.Gln1056=)
|
|
|
NM_020366.4(RPGRIP1):c.3180G>A (p.Glu1060=)
|
|
|
NM_020366.4(RPGRIP1):c.320C>A (p.Ala107Glu)
|
|
|
NM_020366.4(RPGRIP1):c.320_322del (p.Ala107del)
|
rs1424476051
|
|
NM_020366.4(RPGRIP1):c.322G>A (p.Gly108Arg)
|
|
|
NM_020366.4(RPGRIP1):c.3230C>T (p.Pro1077Leu)
|
rs2139264096
|
|
NM_020366.4(RPGRIP1):c.3238+17T>A
|
|
|
NM_020366.4(RPGRIP1):c.3238+5T>A
|
rs1375504755
|
|
NM_020366.4(RPGRIP1):c.3238+5T>C
|
|
|
NM_020366.4(RPGRIP1):c.3239-16A>G
|
|
|
NM_020366.4(RPGRIP1):c.3240C>T (p.Asp1080=)
|
|
|
NM_020366.4(RPGRIP1):c.3248C>G (p.Ser1083Cys)
|
rs751421999
|
|
NM_020366.4(RPGRIP1):c.3248C>T (p.Ser1083Phe)
|
rs751421999
|
|
NM_020366.4(RPGRIP1):c.3251C>T (p.Ser1084Phe)
|
rs576011830
|
|
NM_020366.4(RPGRIP1):c.3257A>C (p.Gln1086Pro)
|
rs1210425656
|
|
NM_020366.4(RPGRIP1):c.3271A>C (p.Ser1091Arg)
|
rs749295693
|
|
NM_020366.4(RPGRIP1):c.3275_3276dup (p.Ala1093fs)
|
rs2139288271
|
|
NM_020366.4(RPGRIP1):c.3293G>A (p.Ser1098Asn)
|
rs2139288372
|
|
NM_020366.4(RPGRIP1):c.3308T>C (p.Val1103Ala)
|
|
|
NM_020366.4(RPGRIP1):c.3312A>G (p.Pro1104=)
|
|
|
NM_020366.4(RPGRIP1):c.3317T>C (p.Met1106Thr)
|
rs769264626
|
|
NM_020366.4(RPGRIP1):c.3339+9A>G
|
|
|
NM_020366.4(RPGRIP1):c.3340-19T>C
|
|
|
NM_020366.4(RPGRIP1):c.3340-3C>G
|
|
|
NM_020366.4(RPGRIP1):c.3353T>C (p.Met1118Thr)
|
rs1194195334
|
|
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu)
|
rs137853911
|
|
NM_020366.4(RPGRIP1):c.335G>A (p.Arg112His)
|
rs1566671532
|
|
NM_020366.4(RPGRIP1):c.3370T>A (p.Ser1124Thr)
|
|
|
NM_020366.4(RPGRIP1):c.3370T>C (p.Ser1124Pro)
|
rs2139337000
|
|
NM_020366.4(RPGRIP1):c.3373C>T (p.Leu1125=)
|
|
|
NM_020366.4(RPGRIP1):c.340T>C (p.Ser114Pro)
|
rs1192070874
|
|
NM_020366.4(RPGRIP1):c.3420A>G (p.Lys1140=)
|
|
|
NM_020366.4(RPGRIP1):c.3426G>A (p.Val1142=)
|
rs1463280224
|
|
NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu)
|
rs886050401
|
|
NM_020366.4(RPGRIP1):c.3448G>A (p.Asp1150Asn)
|
rs144704092
|
|
NM_020366.4(RPGRIP1):c.3448G>C (p.Asp1150His)
|
|
|
NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr)
|
rs144704092
|
|
NM_020366.4(RPGRIP1):c.3450C>T (p.Asp1150=)
|
|
|
NM_020366.4(RPGRIP1):c.3454C>A (p.Pro1152Thr)
|
|
|
NM_020366.4(RPGRIP1):c.3454C>T (p.Pro1152Ser)
|
rs1388726376
|
|
NM_020366.4(RPGRIP1):c.3461C>G (p.Ser1154Trp)
|
rs188312873
|
|
NM_020366.4(RPGRIP1):c.3461C>T (p.Ser1154Leu)
|
rs188312873
|
|
NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter)
|
|
|
NM_020366.4(RPGRIP1):c.3484C>T (p.Leu1162=)
|
|
|
NM_020366.4(RPGRIP1):c.3487dup (p.Arg1163fs)
|
rs1885194108
|
|
NM_020366.4(RPGRIP1):c.3501A>C (p.Ala1167=)
|
rs760570560
|
|
NM_020366.4(RPGRIP1):c.3511del (p.Ile1171fs)
|
|
|
NM_020366.4(RPGRIP1):c.3513C>T (p.Ile1171=)
|
rs1448324598
|
|
NM_020366.4(RPGRIP1):c.3516C>T (p.His1172=)
|
|
|
NM_020366.4(RPGRIP1):c.3521A>C (p.His1174Pro)
|
rs2139338042
|
|
NM_020366.4(RPGRIP1):c.3522C>G (p.His1174Gln)
|
|
|
NM_020366.4(RPGRIP1):c.352C>A (p.Arg118Ser)
|
|
|
NM_020366.4(RPGRIP1):c.3532+8_3532+10del
|
rs2139338142
|
|
NM_020366.4(RPGRIP1):c.3533-18C>T
|
rs2139349638
|
|
NM_020366.4(RPGRIP1):c.3533-2A>G
|
|
|
NM_020366.4(RPGRIP1):c.3539A>G (p.Asp1180Gly)
|
rs2139349759
|
|
NM_020366.4(RPGRIP1):c.3545A>T (p.Asp1182Val)
|
|
|
NM_020366.4(RPGRIP1):c.3553G>A (p.Glu1185Lys)
|
rs766353935
|
|
NM_020366.4(RPGRIP1):c.3553G>C (p.Glu1185Gln)
|
rs766353935
|
|
NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser)
|
rs756503753
|
|
NM_020366.4(RPGRIP1):c.3571C>A (p.Arg1191=)
|
|
|
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)
|
rs188660364
|
|
NM_020366.4(RPGRIP1):c.3602A>G (p.Asp1201Gly)
|
rs773540240
|
|
NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter)
|
rs2139350315
|
|
NM_020366.4(RPGRIP1):c.3615A>T (p.Gly1205=)
|
rs2139350334
|
|
NM_020366.4(RPGRIP1):c.3617A>T (p.His1206Leu)
|
|
|
NM_020366.4(RPGRIP1):c.3618-18A>C
|
|
|
NM_020366.4(RPGRIP1):c.3618-1_3621del
|
rs1594280740
|
|
NM_020366.4(RPGRIP1):c.3618-4T>G
|
|
|
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs)
|
rs1885757549
|
|
NM_020366.4(RPGRIP1):c.3645T>C (p.Pro1215=)
|
rs1333427417
|
|
NM_020366.4(RPGRIP1):c.3646C>T (p.Leu1216=)
|
rs2139365900
|
|
NM_020366.4(RPGRIP1):c.3649G>A (p.Asp1217Asn)
|
rs886044548
|
|
NM_020366.4(RPGRIP1):c.3652G>A (p.Glu1218Lys)
|
|
|
NM_020366.4(RPGRIP1):c.3660G>T (p.Lys1220Asn)
|
|
|
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs)
|
rs1594280914
|
|
NM_020366.4(RPGRIP1):c.3671AAG[1] (p.Glu1225del)
|
rs1885763072
|
|
NM_020366.4(RPGRIP1):c.3683A>G (p.Tyr1228Cys)
|
|
|
NM_020366.4(RPGRIP1):c.3687A>G (p.Ala1229=)
|
rs745981313
|
|
NM_020366.4(RPGRIP1):c.3689A>G (p.Tyr1230Cys)
|
|
|
NM_020366.4(RPGRIP1):c.3714G>A (p.Glu1238=)
|
|
|
NM_020366.4(RPGRIP1):c.3726dup (p.Ile1243fs)
|
|
|
NM_020366.4(RPGRIP1):c.3733G>A (p.Glu1245Lys)
|
|
|
NM_020366.4(RPGRIP1):c.3748+11T>A
|
|
|
NM_020366.4(RPGRIP1):c.3748+16T>C
|
rs2139366554
|
|
NM_020366.4(RPGRIP1):c.3748+17T>C
|
|
|
NM_020366.4(RPGRIP1):c.3748+17dup
|
rs578107768
|
|
NM_020366.4(RPGRIP1):c.3749-12dup
|
|
|
NM_020366.4(RPGRIP1):c.3749-14C>T
|
rs2139386820
|
|
NM_020366.4(RPGRIP1):c.3749-6C>T
|
rs373373799
|
|
NM_020366.4(RPGRIP1):c.3749-8C>T
|
|
|
NM_020366.4(RPGRIP1):c.3758C>G (p.Pro1253Arg)
|
rs1168922642
|
|
NM_020366.4(RPGRIP1):c.3768G>A (p.Leu1256=)
|
|
|
NM_020366.4(RPGRIP1):c.3778A>G (p.Ile1260Val)
|
|
|
NM_020366.4(RPGRIP1):c.3779T>A (p.Ile1260Lys)
|
rs752222755
|
|
NM_020366.4(RPGRIP1):c.3786G>T (p.Arg1262Ser)
|
rs1479887241
|
|
NM_020366.4(RPGRIP1):c.380A>G (p.His127Arg)
|
rs2139156675
|
|
NM_020366.4(RPGRIP1):c.3823G>A (p.Ala1275Thr)
|
|
|
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del)
|
rs281865293
|
|
NM_020366.4(RPGRIP1):c.3842C>T (p.Thr1281Ile)
|
rs1385915494
|
|
NM_020366.4(RPGRIP1):c.3843T>C (p.Thr1281=)
|
|
|
NM_020366.4(RPGRIP1):c.3850T>C (p.Leu1284=)
|
rs2139387827
|
|
NM_020366.4(RPGRIP1):c.386A>G (p.His129Arg)
|
|
|
NM_020366.4(RPGRIP1):c.394G>T (p.Gly132Cys)
|
rs2139156699
|
|
NM_020366.4(RPGRIP1):c.403A>G (p.Ser135Gly)
|
|
|
NM_020366.4(RPGRIP1):c.405C>T (p.Ser135=)
|
|
|
NM_020366.4(RPGRIP1):c.415G>A (p.Ala139Thr)
|
|
|
NM_020366.4(RPGRIP1):c.415G>C (p.Ala139Pro)
|
|
|
NM_020366.4(RPGRIP1):c.417C>G (p.Ala139=)
|
rs1405988307
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NM_020366.4(RPGRIP1):c.420G>A (p.Gln140=)
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rs2139156763
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NM_020366.4(RPGRIP1):c.433G>C (p.Val145Leu)
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rs1881012139
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NM_020366.4(RPGRIP1):c.442A>T (p.Arg148Ter)
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NM_020366.4(RPGRIP1):c.447G>A (p.Gln149=)
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NM_020366.4(RPGRIP1):c.458C>G (p.Ala153Gly)
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rs1881013380
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NM_020366.4(RPGRIP1):c.459C>A (p.Ala153=)
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NM_020366.4(RPGRIP1):c.459C>T (p.Ala153=)
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rs756459696
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NM_020366.4(RPGRIP1):c.474G>A (p.Pro158=)
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NM_020366.4(RPGRIP1):c.490+18A>G
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rs1881016656
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NM_020366.4(RPGRIP1):c.490+20C>T
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NM_020366.4(RPGRIP1):c.490+23dup
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NM_020366.4(RPGRIP1):c.490+3G>A
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rs2139156922
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NM_020366.4(RPGRIP1):c.490+6A>T
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NM_020366.4(RPGRIP1):c.491-10A>G
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NM_020366.4(RPGRIP1):c.491-3del
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NM_020366.4(RPGRIP1):c.518C>A (p.Ala173Asp)
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rs1305296500
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NM_020366.4(RPGRIP1):c.521del (p.Pro174fs)
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rs1881077003
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NM_020366.4(RPGRIP1):c.527C>T (p.Ser176Leu)
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rs1011857075
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NM_020366.4(RPGRIP1):c.529T>C (p.Phe177Leu)
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rs1881077815
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NM_020366.4(RPGRIP1):c.54T>C (p.Asp18=)
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NM_020366.4(RPGRIP1):c.595G>T (p.Gly199Cys)
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rs777149627
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NM_020366.4(RPGRIP1):c.604_611del (p.Ser202fs)
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NM_020366.4(RPGRIP1):c.620G>A (p.Ser207Asn)
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rs763667727
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NM_020366.4(RPGRIP1):c.620G>T (p.Ser207Ile)
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rs763667727
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NM_020366.4(RPGRIP1):c.624T>C (p.Ser208=)
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NM_020366.4(RPGRIP1):c.636G>A (p.Met212Ile)
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rs1881122797
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NM_020366.4(RPGRIP1):c.643C>T (p.Pro215Ser)
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NM_020366.4(RPGRIP1):c.645C>T (p.Pro215=)
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NM_020366.4(RPGRIP1):c.664_665del (p.Asn222fs)
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NM_020366.4(RPGRIP1):c.668G>A (p.Ser223Asn)
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rs2139160510
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NM_020366.4(RPGRIP1):c.668G>C (p.Ser223Thr)
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rs2139160510
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NM_020366.4(RPGRIP1):c.671C>T (p.Ala224Val)
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NM_020366.4(RPGRIP1):c.673del (p.His225fs)
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rs752263228
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NM_020366.4(RPGRIP1):c.678C>T (p.Ile226=)
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rs368948798
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NM_020366.4(RPGRIP1):c.687C>A (p.Ser229Arg)
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NM_020366.4(RPGRIP1):c.711del (p.Lys239fs)
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rs2139160608
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NM_020366.4(RPGRIP1):c.732G>A (p.Met244Ile)
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rs1881127716
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NM_020366.4(RPGRIP1):c.744T>C (p.Asp248=)
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NM_020366.4(RPGRIP1):c.75A>G (p.Pro25=)
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NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter)
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rs2139160679
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NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=)
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rs398124356
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NM_020366.4(RPGRIP1):c.792A>G (p.Ala264=)
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rs1008051417
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NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter)
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rs554396590
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NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer)
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rs2139168888
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NM_020366.4(RPGRIP1):c.819G>A (p.Lys273=)
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rs2139168912
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NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter)
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rs587783018
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NM_020366.4(RPGRIP1):c.833del (p.Arg278fs)
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NM_020366.4(RPGRIP1):c.837T>C (p.Leu279=)
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rs751301091
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NM_020366.4(RPGRIP1):c.85+11C>T
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NM_020366.4(RPGRIP1):c.85+12G>T
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NM_020366.4(RPGRIP1):c.853_854insGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTACATG (p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer)
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NM_020366.4(RPGRIP1):c.85G>A (p.Gly29Ser)
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rs763401090
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NM_020366.4(RPGRIP1):c.870G>T (p.Leu290Phe)
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rs1459207230
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NM_020366.4(RPGRIP1):c.874A>G (p.Met292Val)
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rs1881380174
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NM_020366.4(RPGRIP1):c.895G>A (p.Glu299Lys)
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rs550626567
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NM_020366.4(RPGRIP1):c.8A>G (p.His3Arg)
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rs2139132081
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NM_020366.4(RPGRIP1):c.906+15_906+17del
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rs543597442
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NM_020366.4(RPGRIP1):c.907-25AAT[3]
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rs398099213
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NM_020366.4(RPGRIP1):c.907-7del
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rs1881499414
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NM_020366.4(RPGRIP1):c.924C>T (p.Leu308=)
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NM_020366.4(RPGRIP1):c.925C>G (p.Gln309Glu)
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NM_020366.4(RPGRIP1):c.930+15T>C
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rs2139173387
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NM_020366.4(RPGRIP1):c.930+4C>T
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NM_020366.4(RPGRIP1):c.931-18A>C
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NM_020366.4(RPGRIP1):c.931-2_935delinsT
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rs2139175288
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NM_020366.4(RPGRIP1):c.931-3C>G
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NM_020366.4(RPGRIP1):c.931-4C>T
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rs1023673456
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NM_020366.4(RPGRIP1):c.933T>A (p.Asn311Lys)
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NM_020366.4(RPGRIP1):c.950C>T (p.Ala317Val)
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rs2139175328
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NM_020366.4(RPGRIP1):c.956A>G (p.His319Arg)
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rs756920414
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NM_020366.4(RPGRIP1):c.964CTC[1] (p.Leu323del)
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NM_020366.4(RPGRIP1):c.967C>T (p.Leu323Phe)
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NM_020366.4(RPGRIP1):c.985C>G (p.Leu329Val)
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rs776485302
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NM_020366.4(RPGRIP1):c.99A>G (p.Lys33=)
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