NM_006269.2(RP1):c.382C>A (p.Leu128Ile)
|
rs147116231
|
0.00283
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)
|
rs139294220
|
0.00204
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
NM_006269.2(RP1):c.2245C>T (p.Leu749Phe)
|
rs147990983
|
0.00147
|
NM_006269.2(RP1):c.1187G>A (p.Arg396Gln)
|
rs141279458
|
0.00138
|
NM_006269.2(RP1):c.6167G>A (p.Gly2056Asp)
|
rs35327842
|
0.00135
|
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)
|
rs146256526
|
0.00113
|
NM_006269.2(RP1):c.-51A>G
|
rs572206979
|
0.00090
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
NM_006269.2(RP1):c.1334G>A (p.Arg445His)
|
rs757110150
|
0.00058
|
NM_006269.2(RP1):c.4563C>T (p.Asn1521=)
|
rs150524359
|
0.00056
|
NM_006269.2(RP1):c.1568A>G (p.Asn523Ser)
|
rs144309486
|
0.00052
|
NM_006269.2(RP1):c.2449A>G (p.Lys817Glu)
|
rs140640774
|
0.00051
|
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)
|
rs149282954
|
0.00040
|
NM_006269.2(RP1):c.615+3G>A
|
rs199632605
|
0.00037
|
NM_006269.2(RP1):c.698A>G (p.Asp233Gly)
|
rs190484195
|
0.00036
|
NM_006269.2(RP1):c.2413A>G (p.Asn805Asp)
|
rs145839872
|
0.00031
|
NM_006269.2(RP1):c.4456G>A (p.Gly1486Arg)
|
rs143193537
|
0.00026
|
NM_006269.2(RP1):c.6323T>G (p.Ile2108Ser)
|
rs145297510
|
0.00026
|
NM_006269.2(RP1):c.1736A>G (p.Asp579Gly)
|
rs144999144
|
0.00025
|
NM_006269.2(RP1):c.912G>T (p.Lys304Asn)
|
rs189145468
|
0.00025
|
NM_006269.2(RP1):c.652G>A (p.Ala218Thr)
|
rs145691085
|
0.00024
|
NM_006269.2(RP1):c.278C>A (p.Thr93Lys)
|
rs139533342
|
0.00023
|
NM_006269.2(RP1):c.4799G>A (p.Ser1600Asn)
|
rs144852838
|
0.00023
|
NM_006269.2(RP1):c.6338C>A (p.Thr2113Asn)
|
rs137887415
|
0.00022
|
NM_006269.2(RP1):c.1183G>A (p.Glu395Lys)
|
rs377463031
|
0.00019
|
NM_006269.2(RP1):c.2386G>A (p.Gly796Ser)
|
rs202031905
|
0.00017
|
NM_006269.2(RP1):c.3838T>G (p.Phe1280Val)
|
rs200384647
|
0.00017
|
NM_006269.2(RP1):c.4397A>T (p.Glu1466Val)
|
rs373083553
|
0.00017
|
NM_006269.2(RP1):c.3101A>T (p.His1034Leu)
|
rs148296108
|
0.00016
|
NM_006269.2(RP1):c.4280A>G (p.Lys1427Arg)
|
rs372198758
|
0.00016
|
NM_006269.2(RP1):c.4473A>C (p.Glu1491Asp)
|
rs149597597
|
0.00016
|
NM_006269.2(RP1):c.*269A>G
|
rs1276671291
|
0.00015
|
NM_006269.2(RP1):c.2450A>G (p.Lys817Arg)
|
rs560123447
|
0.00015
|
NM_006269.2(RP1):c.3589A>G (p.Ser1197Gly)
|
rs201446128
|
0.00014
|
NM_006269.2(RP1):c.1943A>C (p.Glu648Ala)
|
rs371614106
|
0.00013
|
NM_006269.2(RP1):c.2005G>A (p.Ala669Thr)
|
rs201725231
|
0.00013
|
NM_006269.2(RP1):c.4299A>G (p.Ala1433=)
|
rs148918111
|
0.00013
|
NM_006269.2(RP1):c.172C>T (p.Arg58Cys)
|
rs553910154
|
0.00011
|
NM_006269.2(RP1):c.2455T>G (p.Leu819Val)
|
rs367562684
|
0.00011
|
NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp)
|
rs555883522
|
0.00011
|
NM_006269.2(RP1):c.4861A>G (p.Lys1621Glu)
|
rs139776202
|
0.00011
|
NM_006269.2(RP1):c.2016G>T (p.Lys672Asn)
|
rs200252967
|
0.00010
|
NM_006269.2(RP1):c.2972A>G (p.Asp991Gly)
|
rs202057087
|
0.00010
|
NM_006269.2(RP1):c.2905A>G (p.Met969Val)
|
rs181497543
|
0.00009
|
NM_006269.2(RP1):c.3036G>C (p.Leu1012=)
|
rs373971446
|
0.00009
|
NM_006269.2(RP1):c.3040G>C (p.Asp1014His)
|
rs200186332
|
0.00009
|
NM_006269.2(RP1):c.4193C>G (p.Ser1398Cys)
|
rs769270937
|
0.00009
|
NM_006269.2(RP1):c.6169C>G (p.Gln2057Glu)
|
rs201860457
|
0.00009
|
NM_006269.2(RP1):c.65C>T (p.Pro22Leu)
|
rs200017983
|
0.00009
|
NM_006269.2(RP1):c.160G>A (p.Val54Met)
|
rs148458501
|
0.00008
|
NM_006269.2(RP1):c.21T>G (p.Thr7=)
|
rs377126381
|
0.00008
|
NM_006269.2(RP1):c.1726G>A (p.Val576Met)
|
rs201008674
|
0.00007
|
NM_006269.2(RP1):c.320C>A (p.Ser107Tyr)
|
rs754124724
|
0.00007
|
NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr)
|
rs147384119
|
0.00007
|
NM_006269.2(RP1):c.1595A>G (p.Glu532Gly)
|
rs371028735
|
0.00006
|
NM_006269.2(RP1):c.2757G>C (p.Trp919Cys)
|
rs746396730
|
0.00006
|
NM_006269.2(RP1):c.2794A>G (p.Ile932Val)
|
rs373573589
|
0.00006
|
NM_006269.2(RP1):c.3305A>G (p.Gln1102Arg)
|
rs398124219
|
0.00006
|
NM_006269.2(RP1):c.3399C>G (p.Leu1133=)
|
rs746723674
|
0.00006
|
NM_006269.2(RP1):c.3428A>G (p.Asn1143Ser)
|
rs748097421
|
0.00006
|
NM_006269.2(RP1):c.4564G>A (p.Gly1522Ser)
|
rs762338185
|
0.00006
|
NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys)
|
rs941588545
|
0.00006
|
NM_006269.2(RP1):c.4663G>A (p.Gly1555Arg)
|
rs370101107
|
0.00006
|
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg)
|
rs113911625
|
0.00006
|
NM_006269.2(RP1):c.1180A>G (p.Met394Val)
|
rs763523179
|
0.00005
|
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn)
|
rs143494598
|
0.00005
|
NM_006269.2(RP1):c.1841A>G (p.His614Arg)
|
rs762549305
|
0.00005
|
NM_006269.2(RP1):c.1980T>A (p.Asn660Lys)
|
rs886062990
|
0.00005
|
NM_006269.2(RP1):c.281G>A (p.Arg94His)
|
rs373078077
|
0.00005
|
NM_006269.2(RP1):c.2895T>A (p.Ser965Arg)
|
rs536567969
|
0.00005
|
NM_006269.2(RP1):c.2923A>G (p.Ile975Val)
|
rs202016292
|
0.00005
|
NM_006269.2(RP1):c.3200C>T (p.Ala1067Val)
|
rs377706951
|
0.00005
|
NM_006269.2(RP1):c.3811A>G (p.Lys1271Glu)
|
rs770305929
|
0.00005
|
NM_006269.2(RP1):c.4216A>G (p.Lys1406Glu)
|
rs562213663
|
0.00005
|
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val)
|
rs200860068
|
0.00005
|
NM_006269.2(RP1):c.4831C>A (p.Pro1611Thr)
|
rs201519839
|
0.00005
|
NM_006269.2(RP1):c.*78G>T
|
rs551504653
|
0.00004
|
NM_006269.2(RP1):c.-37T>C
|
rs769599875
|
0.00004
|
NM_006269.2(RP1):c.1136G>T (p.Gly379Val)
|
rs573551979
|
0.00004
|
NM_006269.2(RP1):c.121T>C (p.Tyr41His)
|
rs746359399
|
0.00004
|
NM_006269.2(RP1):c.141A>G (p.Gln47=)
|
rs372249141
|
0.00004
|
NM_006269.2(RP1):c.1472G>A (p.Ser491Asn)
|
rs758334212
|
0.00004
|
NM_006269.2(RP1):c.1500G>A (p.Met500Ile)
|
rs995188028
|
0.00004
|
NM_006269.2(RP1):c.1612A>T (p.Ser538Cys)
|
rs757568473
|
0.00004
|
NM_006269.2(RP1):c.2339G>T (p.Arg780Ile)
|
rs762382791
|
0.00004
|
NM_006269.2(RP1):c.2742T>G (p.Asn914Lys)
|
rs1167023212
|
0.00004
|
NM_006269.2(RP1):c.3155T>C (p.Val1052Ala)
|
rs546212290
|
0.00004
|
NM_006269.2(RP1):c.3198G>A (p.Glu1066=)
|
rs759707480
|
0.00004
|
NM_006269.2(RP1):c.3317T>C (p.Val1106Ala)
|
rs1043235694
|
0.00004
|
NM_006269.2(RP1):c.3374C>A (p.Ser1125Tyr)
|
rs532166235
|
0.00004
|
NM_006269.2(RP1):c.3479C>T (p.Thr1160Ile)
|
rs377034289
|
0.00004
|
NM_006269.2(RP1):c.3569C>T (p.Thr1190Ile)
|
rs775611663
|
0.00004
|
NM_006269.2(RP1):c.3579C>T (p.His1193=)
|
rs777012140
|
0.00004
|
NM_006269.2(RP1):c.3848G>T (p.Ser1283Ile)
|
rs374445605
|
0.00004
|
NM_006269.2(RP1):c.3874T>C (p.Ser1292Pro)
|
rs776339290
|
0.00004
|
NM_006269.2(RP1):c.3943T>C (p.Cys1315Arg)
|
rs372769505
|
0.00004
|
NM_006269.2(RP1):c.4699A>G (p.Met1567Val)
|
rs374421129
|
0.00004
|
NM_006269.2(RP1):c.6100A>G (p.Met2034Val)
|
rs147632759
|
0.00004
|
NM_006269.2(RP1):c.941C>G (p.Pro314Arg)
|
rs1162719061
|
0.00004
|
NM_006269.2(RP1):c.2042T>A (p.Ile681Lys)
|
rs966147989
|
0.00003
|
NM_006269.2(RP1):c.256C>A (p.Pro86Thr)
|
rs757674289
|
0.00003
|
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)
|
rs201538234
|
0.00003
|
NM_006269.2(RP1):c.2750A>G (p.Gln917Arg)
|
rs1333399850
|
0.00003
|
NM_006269.2(RP1):c.3188A>G (p.Gln1063Arg)
|
rs199550930
|
0.00003
|
NM_006269.2(RP1):c.3413T>C (p.Leu1138Pro)
|
rs754799075
|
0.00003
|
NM_006269.2(RP1):c.3502A>G (p.Lys1168Glu)
|
rs142787091
|
0.00003
|
NM_006269.2(RP1):c.3667T>G (p.Cys1223Gly)
|
rs1057179569
|
0.00003
|
NM_006269.2(RP1):c.3704T>C (p.Leu1235Ser)
|
rs770380600
|
0.00003
|
NM_006269.2(RP1):c.4175A>G (p.Asn1392Ser)
|
rs780518944
|
0.00003
|
NM_006269.2(RP1):c.4448T>C (p.Val1483Ala)
|
rs763697787
|
0.00003
|
NM_006269.2(RP1):c.4471G>C (p.Glu1491Gln)
|
rs377386628
|
0.00003
|
NM_006269.2(RP1):c.4603C>G (p.Pro1535Ala)
|
rs773844065
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser)
|
rs756000109
|
0.00003
|
NM_006269.2(RP1):c.662C>T (p.Ala221Val)
|
rs760561079
|
0.00003
|
NM_006269.2(RP1):c.1283C>G (p.Ala428Gly)
|
rs762114930
|
0.00002
|
NM_006269.2(RP1):c.1439T>C (p.Ile480Thr)
|
rs753472746
|
0.00002
|
NM_006269.2(RP1):c.1482C>A (p.Asn494Lys)
|
rs756192112
|
0.00002
|
NM_006269.2(RP1):c.148G>C (p.Gly50Arg)
|
rs761646580
|
0.00002
|
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly)
|
rs546625124
|
0.00002
|
NM_006269.2(RP1):c.164T>A (p.Val55Asp)
|
rs1446992624
|
0.00002
|
NM_006269.2(RP1):c.1779G>T (p.Lys593Asn)
|
rs747328453
|
0.00002
|
NM_006269.2(RP1):c.1829C>A (p.Ala610Glu)
|
rs371344865
|
0.00002
|
NM_006269.2(RP1):c.1990A>G (p.Ile664Val)
|
rs772037478
|
0.00002
|
NM_006269.2(RP1):c.2024A>T (p.Lys675Ile)
|
rs755107767
|
0.00002
|
NM_006269.2(RP1):c.205A>T (p.Asn69Tyr)
|
rs794727282
|
0.00002
|
NM_006269.2(RP1):c.2150C>T (p.Ser717Leu)
|
rs1270635237
|
0.00002
|
NM_006269.2(RP1):c.2317C>A (p.Leu773Ile)
|
rs892285778
|
0.00002
|
NM_006269.2(RP1):c.2381A>G (p.Glu794Gly)
|
rs905082467
|
0.00002
|
NM_006269.2(RP1):c.2521G>A (p.Glu841Lys)
|
rs1472013734
|
0.00002
|
NM_006269.2(RP1):c.2714A>C (p.Glu905Ala)
|
rs750374154
|
0.00002
|
NM_006269.2(RP1):c.271A>G (p.Ser91Gly)
|
rs1319416151
|
0.00002
|
NM_006269.2(RP1):c.2825C>T (p.Thr942Met)
|
rs112323560
|
0.00002
|
NM_006269.2(RP1):c.2915A>G (p.Asn972Ser)
|
rs369791590
|
0.00002
|
NM_006269.2(RP1):c.2951A>G (p.Asp984Gly)
|
rs200135800
|
0.00002
|
NM_006269.2(RP1):c.3100C>G (p.His1034Asp)
|
rs746848660
|
0.00002
|
NM_006269.2(RP1):c.3347C>T (p.Pro1116Leu)
|
rs761263114
|
0.00002
|
NM_006269.2(RP1):c.3641C>T (p.Thr1214Met)
|
rs368074316
|
0.00002
|
NM_006269.2(RP1):c.4022C>G (p.Thr1341Ser)
|
rs927533981
|
0.00002
|
NM_006269.2(RP1):c.4025T>C (p.Ile1342Thr)
|
rs201683491
|
0.00002
|
NM_006269.2(RP1):c.403G>A (p.Ala135Thr)
|
rs755833719
|
0.00002
|
NM_006269.2(RP1):c.40C>G (p.Pro14Ala)
|
rs1342130209
|
0.00002
|
NM_006269.2(RP1):c.4157C>T (p.Thr1386Ile)
|
rs199961126
|
0.00002
|
NM_006269.2(RP1):c.4205G>T (p.Cys1402Phe)
|
rs774475397
|
0.00002
|
NM_006269.2(RP1):c.4307C>T (p.Ser1436Phe)
|
rs376134297
|
0.00002
|
NM_006269.2(RP1):c.4781A>G (p.Tyr1594Cys)
|
rs749707126
|
0.00002
|
NM_006269.2(RP1):c.6110T>C (p.Leu2037Ser)
|
rs777037136
|
0.00002
|
NM_006269.2(RP1):c.6137A>G (p.Asn2046Ser)
|
rs150148595
|
0.00002
|
NM_006269.2(RP1):c.6165C>T (p.Ser2055=)
|
rs145661075
|
0.00002
|
NM_006269.2(RP1):c.6272T>C (p.Ile2091Thr)
|
rs747154755
|
0.00002
|
NM_006269.2(RP1):c.6344T>G (p.Leu2115Ter)
|
rs142315603
|
0.00002
|
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)
|
rs753732597
|
0.00002
|
NM_006269.2(RP1):c.644G>A (p.Ser215Asn)
|
rs759197247
|
0.00002
|
NM_006269.2(RP1):c.919T>C (p.Ser307Pro)
|
rs377130833
|
0.00002
|
NM_006269.2(RP1):c.*75C>T
|
rs1439625423
|
0.00001
|
NM_006269.2(RP1):c.-101G>A
|
rs867287513
|
0.00001
|
NM_006269.2(RP1):c.1037C>A (p.Thr346Asn)
|
rs1167725394
|
0.00001
|
NM_006269.2(RP1):c.1096G>A (p.Glu366Lys)
|
rs139214330
|
0.00001
|
NM_006269.2(RP1):c.1262G>T (p.Ser421Ile)
|
rs771928405
|
0.00001
|
NM_006269.2(RP1):c.1307A>G (p.Gln436Arg)
|
rs1435278772
|
0.00001
|
NM_006269.2(RP1):c.1333C>T (p.Arg445Cys)
|
rs575855591
|
0.00001
|
NM_006269.2(RP1):c.1346C>T (p.Pro449Leu)
|
rs760968123
|
0.00001
|
NM_006269.2(RP1):c.1361T>G (p.Leu454Arg)
|
rs781361064
|
0.00001
|
NM_006269.2(RP1):c.137C>G (p.Pro46Arg)
|
rs775031968
|
0.00001
|
NM_006269.2(RP1):c.1409T>G (p.Val470Gly)
|
rs967778254
|
0.00001
|
NM_006269.2(RP1):c.1412C>T (p.Ser471Phe)
|
rs1000614416
|
0.00001
|
NM_006269.2(RP1):c.1474G>A (p.Gly492Arg)
|
rs561673450
|
0.00001
|
NM_006269.2(RP1):c.1633A>G (p.Ile545Val)
|
rs759656065
|
0.00001
|
NM_006269.2(RP1):c.1639G>T (p.Ala547Ser)
|
rs747488488
|
0.00001
|
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn)
|
rs1252073669
|
0.00001
|
NM_006269.2(RP1):c.1699C>T (p.Pro567Ser)
|
rs1276805786
|
0.00001
|
NM_006269.2(RP1):c.1705A>G (p.Thr569Ala)
|
rs1286471672
|
0.00001
|
NM_006269.2(RP1):c.1808A>T (p.Asp603Val)
|
rs1437017159
|
0.00001
|
NM_006269.2(RP1):c.1892C>A (p.Ala631Asp)
|
rs1299677603
|
0.00001
|
NM_006269.2(RP1):c.1954T>C (p.Cys652Arg)
|
rs781515012
|
0.00001
|
NM_006269.2(RP1):c.2011A>C (p.Lys671Gln)
|
rs773177329
|
0.00001
|
NM_006269.2(RP1):c.2090A>T (p.Asn697Ile)
|
rs745553501
|
0.00001
|
NM_006269.2(RP1):c.2350A>C (p.Lys784Gln)
|
rs758046790
|
0.00001
|
NM_006269.2(RP1):c.2358C>G (p.Ser786Arg)
|
rs1806043079
|
0.00001
|
NM_006269.2(RP1):c.2362G>A (p.Gly788Arg)
|
rs751281116
|
0.00001
|
NM_006269.2(RP1):c.2384T>C (p.Ile795Thr)
|
rs772185171
|
0.00001
|
NM_006269.2(RP1):c.2446A>G (p.Asn816Asp)
|
rs796921810
|
0.00001
|
NM_006269.2(RP1):c.2471A>G (p.Asn824Ser)
|
rs768767284
|
0.00001
|
NM_006269.2(RP1):c.2494G>T (p.Asp832Tyr)
|
rs371471873
|
0.00001
|
NM_006269.2(RP1):c.2627A>C (p.Lys876Thr)
|
rs760246495
|
0.00001
|
NM_006269.2(RP1):c.268C>G (p.His90Asp)
|
rs779243716
|
0.00001
|
NM_006269.2(RP1):c.2707T>C (p.Phe903Leu)
|
rs1806058137
|
0.00001
|
NM_006269.2(RP1):c.2719A>G (p.Ile907Val)
|
rs1444502867
|
0.00001
|
NM_006269.2(RP1):c.2720T>C (p.Ile907Thr)
|
rs756250298
|
0.00001
|
NM_006269.2(RP1):c.2734A>G (p.Ile912Val)
|
rs1472113981
|
0.00001
|
NM_006269.2(RP1):c.2782A>G (p.Thr928Ala)
|
rs962121976
|
0.00001
|
NM_006269.2(RP1):c.2873A>C (p.His958Pro)
|
rs754138300
|
0.00001
|
NM_006269.2(RP1):c.2933T>C (p.Ile978Thr)
|
rs759501646
|
0.00001
|
NM_006269.2(RP1):c.2959T>C (p.Cys987Arg)
|
rs1265593864
|
0.00001
|
NM_006269.2(RP1):c.302G>A (p.Gly101Asp)
|
rs200242872
|
0.00001
|
NM_006269.2(RP1):c.3052G>A (p.Val1018Ile)
|
rs766796673
|
0.00001
|
NM_006269.2(RP1):c.3083A>G (p.Gln1028Arg)
|
rs1300386362
|
0.00001
|
NM_006269.2(RP1):c.3091A>G (p.Ile1031Val)
|
rs749003868
|
0.00001
|
NM_006269.2(RP1):c.3142G>A (p.Glu1048Lys)
|
rs1395396475
|
0.00001
|
NM_006269.2(RP1):c.314T>C (p.Leu105Pro)
|
rs760751066
|
0.00001
|
NM_006269.2(RP1):c.3199G>A (p.Ala1067Thr)
|
rs866421606
|
0.00001
|
NM_006269.2(RP1):c.3251C>T (p.Pro1084Leu)
|
rs1431000310
|
0.00001
|
NM_006269.2(RP1):c.3270A>G (p.Gln1090=)
|
rs1806082582
|
0.00001
|
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg)
|
rs1245809381
|
0.00001
|
NM_006269.2(RP1):c.3341G>A (p.Gly1114Asp)
|
rs759707324
|
0.00001
|
NM_006269.2(RP1):c.3346C>T (p.Pro1116Ser)
|
rs775652747
|
0.00001
|
NM_006269.2(RP1):c.3456G>A (p.Lys1152=)
|
rs886062992
|
0.00001
|
NM_006269.2(RP1):c.3509T>C (p.Ile1170Thr)
|
rs1237261610
|
0.00001
|
NM_006269.2(RP1):c.3635G>T (p.Cys1212Phe)
|
rs752435173
|
0.00001
|
NM_006269.2(RP1):c.367C>T (p.Arg123Cys)
|
rs769522856
|
0.00001
|
NM_006269.2(RP1):c.3694A>G (p.Ile1232Val)
|
rs368788385
|
0.00001
|
NM_006269.2(RP1):c.3968A>G (p.Tyr1323Cys)
|
rs754606635
|
0.00001
|
NM_006269.2(RP1):c.4000G>A (p.Val1334Ile)
|
rs568312011
|
0.00001
|
NM_006269.2(RP1):c.402C>G (p.Ser134Arg)
|
rs921415953
|
0.00001
|
NM_006269.2(RP1):c.404C>T (p.Ala135Val)
|
rs777510553
|
0.00001
|
NM_006269.2(RP1):c.407A>C (p.His136Pro)
|
rs1322496871
|
0.00001
|
NM_006269.2(RP1):c.4232A>G (p.Asp1411Gly)
|
rs1481855221
|
0.00001
|
NM_006269.2(RP1):c.4295A>G (p.Asn1432Ser)
|
rs374207818
|
0.00001
|
NM_006269.2(RP1):c.4328G>A (p.Arg1443Gln)
|
rs759930573
|
0.00001
|
NM_006269.2(RP1):c.4352T>G (p.Ile1451Arg)
|
rs369927538
|
0.00001
|
NM_006269.2(RP1):c.4372A>C (p.Ser1458Arg)
|
rs749367692
|
0.00001
|
NM_006269.2(RP1):c.4393T>C (p.Leu1465=)
|
rs769786870
|
0.00001
|
NM_006269.2(RP1):c.4421A>G (p.His1474Arg)
|
rs1193243179
|
0.00001
|
NM_006269.2(RP1):c.4432A>G (p.Ile1478Val)
|
rs568838422
|
0.00001
|
NM_006269.2(RP1):c.4536G>C (p.Lys1512Asn)
|
rs752606944
|
0.00001
|
NM_006269.2(RP1):c.4633A>G (p.Lys1545Glu)
|
rs767994258
|
0.00001
|
NM_006269.2(RP1):c.4676T>C (p.Met1559Thr)
|
rs556815489
|
0.00001
|
NM_006269.2(RP1):c.4697C>T (p.Thr1566Ile)
|
rs775203481
|
0.00001
|
NM_006269.2(RP1):c.4742A>T (p.Lys1581Ile)
|
rs766323335
|
0.00001
|
NM_006269.2(RP1):c.4747A>G (p.Ile1583Val)
|
rs755186117
|
0.00001
|
NM_006269.2(RP1):c.4779C>G (p.Asp1593Glu)
|
rs1364825857
|
0.00001
|
NM_006269.2(RP1):c.4780T>C (p.Tyr1594His)
|
rs1020163542
|
0.00001
|
NM_006269.2(RP1):c.4835A>G (p.Asn1612Ser)
|
rs372411580
|
0.00001
|
NM_006269.2(RP1):c.4853C>T (p.Thr1618Ile)
|
rs375156216
|
0.00001
|
NM_006269.2(RP1):c.50C>A (p.Ser17Tyr)
|
rs751706452
|
0.00001
|
NM_006269.2(RP1):c.539T>G (p.Phe180Cys)
|
rs557432569
|
0.00001
|
NM_006269.2(RP1):c.541G>C (p.Glu181Gln)
|
rs764465585
|
0.00001
|
NM_006269.2(RP1):c.598G>C (p.Ala200Pro)
|
rs757348446
|
0.00001
|
NM_006269.2(RP1):c.611G>A (p.Arg204Lys)
|
rs1312475126
|
0.00001
|
NM_006269.2(RP1):c.6127G>T (p.Val2043Phe)
|
rs1315681507
|
0.00001
|
NM_006269.2(RP1):c.6286T>A (p.Phe2096Ile)
|
rs773570888
|
0.00001
|
NM_006269.2(RP1):c.715C>G (p.Leu239Val)
|
rs755182172
|
0.00001
|
NM_006269.2(RP1):c.73C>T (p.Arg25Cys)
|
rs778021701
|
0.00001
|
NM_006269.2(RP1):c.74G>A (p.Arg25His)
|
rs886062989
|
0.00001
|
NM_006269.2(RP1):c.806C>T (p.Ser269Leu)
|
rs1488188331
|
0.00001
|
NM_006269.2(RP1):c.809G>C (p.Ser270Thr)
|
rs746650875
|
0.00001
|
NM_006269.2(RP1):c.820C>A (p.Gln274Lys)
|
rs776541829
|
0.00001
|
NM_006269.2(RP1):c.871G>C (p.Asp291His)
|
rs767490081
|
0.00001
|
NM_006269.2(RP1):c.991A>G (p.Met331Val)
|
rs370586234
|
0.00001
|
NM_001375654.1(RP1):c.3363G>A (p.Trp1121Ter)
|
|
|
NM_001375654.1(RP1):c.3750G>T (p.Glu1250Asp)
|
|
|
NM_006269.2(RP1):c.*179_*181del
|
rs140712625
|
|
NM_006269.2(RP1):c.*261dup
|
rs10654889
|
|
NM_006269.2(RP1):c.-12-12T>C
|
rs886062988
|
|
NM_006269.2(RP1):c.1007A>C (p.Lys336Thr)
|
|
|
NM_006269.2(RP1):c.1018A>G (p.Arg340Gly)
|
|
|
NM_006269.2(RP1):c.1019G>C (p.Arg340Thr)
|
|
|
NM_006269.2(RP1):c.103G>T (p.Ala35Ser)
|
|
|
NM_006269.2(RP1):c.104C>T (p.Ala35Val)
|
rs1805847793
|
|
NM_006269.2(RP1):c.1055C>T (p.Thr352Ile)
|
|
|
NM_006269.2(RP1):c.1070G>A (p.Gly357Asp)
|
rs1805986824
|
|
NM_006269.2(RP1):c.1078A>C (p.Asn360His)
|
|
|
NM_006269.2(RP1):c.1083TGA[1] (p.Asp362del)
|
rs772687396
|
|
NM_006269.2(RP1):c.1084G>A (p.Asp362Asn)
|
|
|
NM_006269.2(RP1):c.1094G>A (p.Ser365Asn)
|
rs781052040
|
|
NM_006269.2(RP1):c.1102A>G (p.Ser368Gly)
|
|
|
NM_006269.2(RP1):c.1112G>T (p.Gly371Val)
|
|
|
NM_006269.2(RP1):c.1123A>G (p.Ser375Gly)
|
rs1805989264
|
|
NM_006269.2(RP1):c.1127G>A (p.Arg376Gln)
|
rs1166678265
|
|
NM_006269.2(RP1):c.1138T>A (p.Leu380Ile)
|
|
|
NM_006269.2(RP1):c.1166C>A (p.Ala389Glu)
|
rs2129315970
|
|
NM_006269.2(RP1):c.1172T>A (p.Val391Glu)
|
|
|
NM_006269.2(RP1):c.1180A>C (p.Met394Leu)
|
|
|
NM_006269.2(RP1):c.1180A>T (p.Met394Leu)
|
rs763523179
|
|
NM_006269.2(RP1):c.1185G>C (p.Glu395Asp)
|
rs1260364554
|
|
NM_006269.2(RP1):c.1192A>G (p.Ser398Gly)
|
|
|
NM_006269.2(RP1):c.1193G>A (p.Ser398Asn)
|
|
|
NM_006269.2(RP1):c.1204G>A (p.Gly402Ser)
|
|
|
NM_006269.2(RP1):c.1205G>A (p.Gly402Asp)
|
|
|
NM_006269.2(RP1):c.1213G>T (p.Ala405Ser)
|
|
|
NM_006269.2(RP1):c.1224A>G (p.Ile408Met)
|
rs2129316000
|
|
NM_006269.2(RP1):c.1240G>T (p.Asp414Tyr)
|
|
|
NM_006269.2(RP1):c.1241A>G (p.Asp414Gly)
|
|
|
NM_006269.2(RP1):c.1243C>G (p.Gln415Glu)
|
|
|
NM_006269.2(RP1):c.124A>C (p.Lys42Gln)
|
rs1482202931
|
|
NM_006269.2(RP1):c.1261A>G (p.Ser421Gly)
|
rs1440127138
|
|
NM_006269.2(RP1):c.1261A>T (p.Ser421Cys)
|
rs1440127138
|
|
NM_006269.2(RP1):c.1265C>T (p.Ser422Phe)
|
rs1585561971
|
|
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs)
|
rs1554519422
|
|
NM_006269.2(RP1):c.126G>C (p.Lys42Asn)
|
rs1161761797
|
|
NM_006269.2(RP1):c.1273T>C (p.Trp425Arg)
|
|
|
NM_006269.2(RP1):c.1280A>C (p.Asn427Thr)
|
rs1331133343
|
|
NM_006269.2(RP1):c.129C>T (p.Ser43=)
|
|
|
NM_006269.2(RP1):c.1309G>A (p.Gly437Arg)
|
|
|
NM_006269.2(RP1):c.1313C>T (p.Thr438Ile)
|
rs1451687014
|
|
NM_006269.2(RP1):c.1329G>C (p.Lys443Asn)
|
|
|
NM_006269.2(RP1):c.1344G>T (p.Arg448Ser)
|
rs2129316057
|
|
NM_006269.2(RP1):c.1354C>T (p.Pro452Ser)
|
|
|
NM_006269.2(RP1):c.1367G>A (p.Arg456Lys)
|
|
|
NM_006269.2(RP1):c.1375C>A (p.Gln459Lys)
|
rs901533341
|
|
NM_006269.2(RP1):c.1376A>G (p.Gln459Arg)
|
|
|
NM_006269.2(RP1):c.137C>A (p.Pro46His)
|
rs775031968
|
|
NM_006269.2(RP1):c.1380G>T (p.Lys460Asn)
|
|
|
NM_006269.2(RP1):c.1391T>C (p.Ile464Thr)
|
|
|
NM_006269.2(RP1):c.1402A>T (p.Thr468Ser)
|
rs1185602873
|
|
NM_006269.2(RP1):c.1409T>C (p.Val470Ala)
|
|
|
NM_006269.2(RP1):c.1414G>A (p.Glu472Lys)
|
rs1806003101
|
|
NM_006269.2(RP1):c.1423G>A (p.Val475Ile)
|
rs1806003464
|
|
NM_006269.2(RP1):c.1423G>C (p.Val475Leu)
|
rs1806003464
|
|
NM_006269.2(RP1):c.1426C>A (p.Gln476Lys)
|
|
|
NM_006269.2(RP1):c.1435A>G (p.Met479Val)
|
rs760158770
|
|
NM_006269.2(RP1):c.1446G>C (p.Gln482His)
|
|
|
NM_006269.2(RP1):c.1457G>A (p.Ser486Asn)
|
|
|
NM_006269.2(RP1):c.145G>A (p.Gly49Ser)
|
rs374931762
|
|
NM_006269.2(RP1):c.1483A>C (p.Lys495Gln)
|
|
|
NM_006269.2(RP1):c.1489G>A (p.Glu497Lys)
|
|
|
NM_006269.2(RP1):c.1492T>G (p.Tyr498Asp)
|
rs2129316140
|
|
NM_006269.2(RP1):c.1496A>C (p.His499Pro)
|
|
|
NM_006269.2(RP1):c.1510T>C (p.Ser504Pro)
|
rs530033470
|
|
NM_006269.2(RP1):c.1510T>G (p.Ser504Ala)
|
rs530033470
|
|
NM_006269.2(RP1):c.1514G>A (p.Cys505Tyr)
|
|
|
NM_006269.2(RP1):c.1514G>T (p.Cys505Phe)
|
|
|
NM_006269.2(RP1):c.151G>C (p.Val51Leu)
|
|
|
NM_006269.2(RP1):c.1523T>C (p.Met508Thr)
|
|
|
NM_006269.2(RP1):c.1524G>A (p.Met508Ile)
|
|
|
NM_006269.2(RP1):c.1558A>G (p.Ile520Val)
|
|
|
NM_006269.2(RP1):c.155G>A (p.Arg52Lys)
|
|
|
NM_006269.2(RP1):c.1564A>G (p.Asn522Asp)
|
|
|
NM_006269.2(RP1):c.1566C>A (p.Asn522Lys)
|
|
|
NM_006269.2(RP1):c.1566C>G (p.Asn522Lys)
|
|
|
NM_006269.2(RP1):c.1601A>G (p.Lys534Arg)
|
rs2129316192
|
|
NM_006269.2(RP1):c.1612A>C (p.Ser538Arg)
|
rs757568473
|
|
NM_006269.2(RP1):c.1612A>G (p.Ser538Gly)
|
rs757568473
|
|
NM_006269.2(RP1):c.1618C>T (p.Leu540Phe)
|
rs1806012719
|
|
NM_006269.2(RP1):c.1625C>T (p.Ser542Leu)
|
rs779334655
|
|
NM_006269.2(RP1):c.1643G>T (p.Gly548Val)
|
rs1281074076
|
|
NM_006269.2(RP1):c.1645G>T (p.Val549Phe)
|
rs1806014057
|
|
NM_006269.2(RP1):c.1651G>C (p.Glu551Gln)
|
|
|
NM_006269.2(RP1):c.1669A>G (p.Met557Val)
|
|
|
NM_006269.2(RP1):c.166A>C (p.Asn56His)
|
rs2129314142
|
|
NM_006269.2(RP1):c.1670T>C (p.Met557Thr)
|
|
|
NM_006269.2(RP1):c.1680G>A (p.Met560Ile)
|
|
|
NM_006269.2(RP1):c.1706C>T (p.Thr569Ile)
|
rs139471370
|
|
NM_006269.2(RP1):c.173G>A (p.Arg58His)
|
|
|
NM_006269.2(RP1):c.175T>G (p.Ser59Ala)
|
rs2129314158
|
|
NM_006269.2(RP1):c.1762A>G (p.Asn588Asp)
|
rs2129316289
|
|
NM_006269.2(RP1):c.1771G>C (p.Gly591Arg)
|
rs1441664225
|
|
NM_006269.2(RP1):c.1805A>G (p.Asn602Ser)
|
rs1229978294
|
|
NM_006269.2(RP1):c.1808A>G (p.Asp603Gly)
|
|
|
NM_006269.2(RP1):c.1840C>T (p.His614Tyr)
|
|
|
NM_006269.2(RP1):c.1883A>G (p.Glu628Gly)
|
|
|
NM_006269.2(RP1):c.1888C>G (p.Pro630Ala)
|
|
|
NM_006269.2(RP1):c.188T>C (p.Phe63Ser)
|
rs369919266
|
|
NM_006269.2(RP1):c.190G>A (p.Asp64Asn)
|
|
|
NM_006269.2(RP1):c.1931G>C (p.Arg644Thr)
|
|
|
NM_006269.2(RP1):c.1934T>C (p.Leu645Pro)
|
|
|
NM_006269.2(RP1):c.1948G>T (p.Ala650Ser)
|
rs1806027730
|
|
NM_006269.2(RP1):c.1972C>T (p.Pro658Ser)
|
|
|
NM_006269.2(RP1):c.1978A>C (p.Asn660His)
|
|
|
NM_006269.2(RP1):c.1989G>T (p.Lys663Asn)
|
rs372551375
|
|
NM_006269.2(RP1):c.199C>A (p.Leu67Met)
|
rs2129314171
|
|
NM_006269.2(RP1):c.2002G>C (p.Val668Leu)
|
rs1806029936
|
|
NM_006269.2(RP1):c.2006C>A (p.Ala669Asp)
|
|
|
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu)
|
rs766341403
|
|
NM_006269.2(RP1):c.2024A>G (p.Lys675Arg)
|
rs755107767
|
|
NM_006269.2(RP1):c.2025A>T (p.Lys675Asn)
|
rs908032972
|
|
NM_006269.2(RP1):c.2027C>G (p.Ser676Cys)
|
rs767901469
|
|
NM_006269.2(RP1):c.2030G>A (p.Arg677Gln)
|
rs940904438
|
|
NM_006269.2(RP1):c.2041A>G (p.Ile681Val)
|
|
|
NM_006269.2(RP1):c.2047T>A (p.Ser683Thr)
|
rs2129316399
|
|
NM_006269.2(RP1):c.2057A>G (p.Gln686Arg)
|
rs1563330427
|
|
NM_006269.2(RP1):c.2063G>T (p.Gly688Val)
|
rs778260802
|
|
NM_006269.2(RP1):c.206A>G (p.Asn69Ser)
|
|
|
NM_006269.2(RP1):c.2071G>T (p.Ala691Ser)
|
rs2129316411
|
|
NM_006269.2(RP1):c.2087T>A (p.Leu696His)
|
rs1467620845
|
|
NM_006269.2(RP1):c.2102G>A (p.Arg701Lys)
|
|
|
NM_006269.2(RP1):c.210G>T (p.Leu70Phe)
|
rs1805851925
|
|
NM_006269.2(RP1):c.2120G>A (p.Arg707Lys)
|
rs2129316439
|
|
NM_006269.2(RP1):c.2138T>C (p.Ile713Thr)
|
rs2129316444
|
|
NM_006269.2(RP1):c.2156G>C (p.Ser719Thr)
|
|
|
NM_006269.2(RP1):c.2170G>A (p.Gly724Arg)
|
|
|
NM_006269.2(RP1):c.2184G>C (p.Glu728Asp)
|
rs2129316474
|
|
NM_006269.2(RP1):c.2207C>T (p.Thr736Ile)
|
|
|
NM_006269.2(RP1):c.2209G>C (p.Val737Leu)
|
|
|
NM_006269.2(RP1):c.220G>A (p.Val74Met)
|
|
|
NM_006269.2(RP1):c.2210T>C (p.Val737Ala)
|
rs2129316489
|
|
NM_006269.2(RP1):c.2232T>G (p.Cys744Trp)
|
rs1806037949
|
|
NM_006269.2(RP1):c.2234C>T (p.Ser745Phe)
|
rs1348070550
|
|
NM_006269.2(RP1):c.2239A>G (p.Ser747Gly)
|
rs1806038181
|
|
NM_006269.2(RP1):c.2247C>G (p.Leu749=)
|
rs1330376739
|
|
NM_006269.2(RP1):c.2252C>T (p.Ser751Phe)
|
|
|
NM_006269.2(RP1):c.2273A>G (p.His758Arg)
|
|
|
NM_006269.2(RP1):c.2281A>C (p.Lys761Gln)
|
|
|
NM_006269.2(RP1):c.2293A>C (p.Thr765Pro)
|
|
|
NM_006269.2(RP1):c.2296C>A (p.Gln766Lys)
|
|
|
NM_006269.2(RP1):c.2303C>T (p.Ser768Phe)
|
rs1162608680
|
|
NM_006269.2(RP1):c.2307G>C (p.Lys769Asn)
|
rs2129316544
|
|
NM_006269.2(RP1):c.2314G>C (p.Gly772Arg)
|
rs1806040688
|
|
NM_006269.2(RP1):c.2338A>G (p.Arg780Gly)
|
|
|
NM_006269.2(RP1):c.2342C>T (p.Ser781Leu)
|
|
|
NM_006269.2(RP1):c.2351_2356del (p.Lys784_Ile785del)
|
rs2129316576
|
|
NM_006269.2(RP1):c.2356A>G (p.Ser786Gly)
|
rs2129316579
|
|
NM_006269.2(RP1):c.2363G>A (p.Gly788Glu)
|
|
|
NM_006269.2(RP1):c.2378G>A (p.Arg793Lys)
|
|
|
NM_006269.2(RP1):c.2397T>G (p.Asp799Glu)
|
rs762140861
|
|
NM_006269.2(RP1):c.23G>T (p.Gly8Val)
|
|
|
NM_006269.2(RP1):c.2412C>A (p.His804Gln)
|
|
|
NM_006269.2(RP1):c.2432A>G (p.Lys811Arg)
|
rs374965881
|
|
NM_006269.2(RP1):c.2437A>T (p.Thr813Ser)
|
rs1311652743
|
|
NM_006269.2(RP1):c.2453G>T (p.Ser818Ile)
|
rs2129316643
|
|
NM_006269.2(RP1):c.2473_2474delinsTA (p.Ile825Tyr)
|
|
|
NM_006269.2(RP1):c.2497T>C (p.Phe833Leu)
|
|
|
NM_006269.2(RP1):c.2507C>A (p.Pro836Gln)
|
rs755745244
|
|
NM_006269.2(RP1):c.2507C>T (p.Pro836Leu)
|
|
|
NM_006269.2(RP1):c.2524G>A (p.Val842Met)
|
rs886062991
|
|
NM_006269.2(RP1):c.2531C>A (p.Ser844Tyr)
|
|
|
NM_006269.2(RP1):c.2531C>T (p.Ser844Phe)
|
rs1806051320
|
|
NM_006269.2(RP1):c.2543G>A (p.Arg848Lys)
|
rs1806051597
|
|
NM_006269.2(RP1):c.2545G>A (p.Gly849Arg)
|
rs1806051809
|
|
NM_006269.2(RP1):c.2593A>T (p.Thr865Ser)
|
rs2129316709
|
|
NM_006269.2(RP1):c.2596T>G (p.Leu866Val)
|
|
|
NM_006269.2(RP1):c.2599A>C (p.Lys867Gln)
|
|
|
NM_006269.2(RP1):c.2600A>G (p.Lys867Arg)
|
rs2129316715
|
|
NM_006269.2(RP1):c.2608A>C (p.Lys870Gln)
|
|
|
NM_006269.2(RP1):c.260G>C (p.Arg87Pro)
|
|
|
NM_006269.2(RP1):c.2613A>T (p.Lys871Asn)
|
|
|
NM_006269.2(RP1):c.2624A>G (p.Asp875Gly)
|
|
|
NM_006269.2(RP1):c.262G>C (p.Gly88Arg)
|
|
|
NM_006269.2(RP1):c.2635G>C (p.Ala879Pro)
|
|
|
NM_006269.2(RP1):c.2642C>T (p.Ala881Val)
|
|
|
NM_006269.2(RP1):c.2660A>G (p.His887Arg)
|
rs1375301055
|
|
NM_006269.2(RP1):c.2660A>T (p.His887Leu)
|
|
|
NM_006269.2(RP1):c.2666C>T (p.Thr889Ile)
|
|
|
NM_006269.2(RP1):c.2704G>A (p.Asp902Asn)
|
|
|
NM_006269.2(RP1):c.2716G>C (p.Ala906Pro)
|
|
|
NM_006269.2(RP1):c.2716G>T (p.Ala906Ser)
|
|
|
NM_006269.2(RP1):c.2748A>G (p.Ile916Met)
|
rs1806060299
|
|
NM_006269.2(RP1):c.2756G>T (p.Trp919Leu)
|
|
|
NM_006269.2(RP1):c.2757G>T (p.Trp919Cys)
|
rs746396730
|
|
NM_006269.2(RP1):c.2759T>G (p.Leu920Trp)
|
rs1806061278
|
|
NM_006269.2(RP1):c.2766C>A (p.Asn922Lys)
|
|
|
NM_006269.2(RP1):c.2769A>G (p.Ile923Met)
|
rs1064796204
|
|
NM_006269.2(RP1):c.2773C>A (p.Pro925Thr)
|
rs1806061663
|
|
NM_006269.2(RP1):c.2792C>G (p.Pro931Arg)
|
|
|
NM_006269.2(RP1):c.284T>C (p.Leu95Pro)
|
|
|
NM_006269.2(RP1):c.2873A>G (p.His958Arg)
|
|
|
NM_006269.2(RP1):c.2876C>A (p.Thr959Lys)
|
|
|
NM_006269.2(RP1):c.2890A>G (p.Ile964Val)
|
|
|
NM_006269.2(RP1):c.2895T>G (p.Ser965Arg)
|
rs536567969
|
|
NM_006269.2(RP1):c.289G>A (p.Glu97Lys)
|
|
|
NM_006269.2(RP1):c.2905A>T (p.Met969Leu)
|
|
|
NM_006269.2(RP1):c.2925A>G (p.Ile975Met)
|
|
|
NM_006269.2(RP1):c.292C>G (p.Leu98Val)
|
rs1805856546
|
|
NM_006269.2(RP1):c.2933T>A (p.Ile978Asn)
|
|
|
NM_006269.2(RP1):c.2947G>A (p.Gly983Arg)
|
|
|
NM_006269.2(RP1):c.294_302del (p.Asp100_Glu102del)
|
rs2129314243
|
|
NM_006269.2(RP1):c.2960G>A (p.Cys987Tyr)
|
|
|
NM_006269.2(RP1):c.2963A>C (p.Lys988Thr)
|
|
|
NM_006269.2(RP1):c.3008A>G (p.Asp1003Gly)
|
rs1806073071
|
|
NM_006269.2(RP1):c.3014A>G (p.His1005Arg)
|
|
|
NM_006269.2(RP1):c.3020C>A (p.Thr1007Lys)
|
|
|
NM_006269.2(RP1):c.3034C>T (p.Leu1012=)
|
rs1371672240
|
|
NM_006269.2(RP1):c.3035T>G (p.Leu1012Arg)
|
rs1806073976
|
|
NM_006269.2(RP1):c.3042T>C (p.Asp1014=)
|
|
|
NM_006269.2(RP1):c.3047A>G (p.Tyr1016Cys)
|
|
|
NM_006269.2(RP1):c.304G>A (p.Glu102Lys)
|
|
|
NM_006269.2(RP1):c.3056C>A (p.Pro1019His)
|
|
|
NM_006269.2(RP1):c.305A>C (p.Glu102Ala)
|
|
|
NM_006269.2(RP1):c.305A>T (p.Glu102Val)
|
|
|
NM_006269.2(RP1):c.3101A>G (p.His1034Arg)
|
rs148296108
|
|
NM_006269.2(RP1):c.310T>C (p.Tyr104His)
|
rs1805857839
|
|
NM_006269.2(RP1):c.3116A>G (p.His1039Arg)
|
rs141811318
|
|
NM_006269.2(RP1):c.3119T>C (p.Ile1040Thr)
|
rs1251985216
|
|
NM_006269.2(RP1):c.3161A>C (p.Gln1054Pro)
|
rs1806079803
|
|
NM_006269.2(RP1):c.316T>C (p.Cys106Arg)
|
rs1805858355
|
|
NM_006269.2(RP1):c.3185G>T (p.Arg1062Met)
|
rs2129317028
|
|
NM_006269.2(RP1):c.3193G>T (p.Val1065Leu)
|
|
|
NM_006269.2(RP1):c.3215A>G (p.Asp1072Gly)
|
|
|
NM_006269.2(RP1):c.3215A>T (p.Asp1072Val)
|
|
|
NM_006269.2(RP1):c.3221T>C (p.Ile1074Thr)
|
|
|
NM_006269.2(RP1):c.3227A>G (p.Glu1076Gly)
|
rs1233367368
|
|
NM_006269.2(RP1):c.3236C>T (p.Pro1079Leu)
|
|
|
NM_006269.2(RP1):c.3238A>G (p.Lys1080Glu)
|
|
|
NM_006269.2(RP1):c.324C>G (p.His108Gln)
|
rs141074157
|
|
NM_006269.2(RP1):c.3269A>G (p.Gln1090Arg)
|
|
|
NM_006269.2(RP1):c.328A>G (p.Arg110Gly)
|
rs1805859214
|
|
NM_006269.2(RP1):c.3295C>G (p.His1099Asp)
|
rs1806083205
|
|
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
|
|
|
NM_006269.2(RP1):c.3316G>T (p.Val1106Phe)
|
|
|
NM_006269.2(RP1):c.3317T>A (p.Val1106Asp)
|
rs1043235694
|
|
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu)
|
rs939932729
|
|
NM_006269.2(RP1):c.3322A>G (p.Met1108Val)
|
|
|
NM_006269.2(RP1):c.3325C>T (p.Pro1109Ser)
|
|
|
NM_006269.2(RP1):c.3328G>C (p.Gly1110Arg)
|
|
|
NM_006269.2(RP1):c.3353A>G (p.His1118Arg)
|
rs1159155135
|
|
NM_006269.2(RP1):c.3357T>G (p.Ser1119=)
|
rs1806085195
|
|
NM_006269.2(RP1):c.3377C>T (p.Thr1126Ile)
|
|
|
NM_006269.2(RP1):c.3397C>A (p.Leu1133Ile)
|
|
|
NM_006269.2(RP1):c.3398T>G (p.Leu1133Arg)
|
|
|
NM_006269.2(RP1):c.3419G>A (p.Gly1140Glu)
|
rs1025535519
|
|
NM_006269.2(RP1):c.3449C>G (p.Ala1150Gly)
|
rs1007629051
|
|
NM_006269.2(RP1):c.3451C>T (p.His1151Tyr)
|
rs774378003
|
|
NM_006269.2(RP1):c.3454A>C (p.Lys1152Gln)
|
|
|
NM_006269.2(RP1):c.3461C>T (p.Thr1154Ile)
|
|
|
NM_006269.2(RP1):c.346G>T (p.Asp116Tyr)
|
rs2129314273
|
|
NM_006269.2(RP1):c.3472T>G (p.Ser1158Ala)
|
rs1806093923
|
|
NM_006269.2(RP1):c.3485C>G (p.Ala1162Gly)
|
|
|
NM_006269.2(RP1):c.3515T>C (p.Ile1172Thr)
|
|
|
NM_006269.2(RP1):c.3544G>A (p.Ala1182Thr)
|
|
|
NM_006269.2(RP1):c.354C>G (p.Asp118Glu)
|
|
|
NM_006269.2(RP1):c.35T>C (p.Ile12Thr)
|
|
|
NM_006269.2(RP1):c.3601C>A (p.Gln1201Lys)
|
rs2129317202
|
|
NM_006269.2(RP1):c.3605A>T (p.Asp1202Val)
|
rs1243903242
|
|
NM_006269.2(RP1):c.3607A>G (p.Met1203Val)
|
|
|
NM_006269.2(RP1):c.3608T>A (p.Met1203Lys)
|
rs1171900860
|
|
NM_006269.2(RP1):c.3608T>C (p.Met1203Thr)
|
rs1171900860
|
|
NM_006269.2(RP1):c.3609G>A (p.Met1203Ile)
|
|
|
NM_006269.2(RP1):c.3610G>A (p.Val1204Ile)
|
rs1806099311
|
|
NM_006269.2(RP1):c.3625T>C (p.Ser1209Pro)
|
rs1806099628
|
|
NM_006269.2(RP1):c.3631A>G (p.Asn1211Asp)
|
|
|
NM_006269.2(RP1):c.3640A>T (p.Thr1214Ser)
|
|
|
NM_006269.2(RP1):c.3649A>G (p.Ile1217Val)
|
rs1043368323
|
|
NM_006269.2(RP1):c.3656G>A (p.Ser1219Asn)
|
|
|
NM_006269.2(RP1):c.365G>C (p.Arg122Pro)
|
|
|
NM_006269.2(RP1):c.3667T>C (p.Cys1223Arg)
|
|
|
NM_006269.2(RP1):c.3670A>G (p.Ser1224Gly)
|
|
|
NM_006269.2(RP1):c.3700T>A (p.Ser1234Thr)
|
rs552178472
|
|
NM_006269.2(RP1):c.3724A>G (p.Ser1242Gly)
|
|
|
NM_006269.2(RP1):c.373C>G (p.Arg125Gly)
|
rs770787145
|
|
NM_006269.2(RP1):c.3740C>T (p.Pro1247Leu)
|
|
|
NM_006269.2(RP1):c.3756G>T (p.Leu1252Phe)
|
|
|
NM_006269.2(RP1):c.376C>A (p.Pro126Thr)
|
rs2129314310
|
|
NM_006269.2(RP1):c.3788C>T (p.Thr1263Ile)
|
|
|
NM_006269.2(RP1):c.3796A>C (p.Lys1266Gln)
|
rs1806109030
|
|
NM_006269.2(RP1):c.3800C>A (p.Ala1267Asp)
|
|
|
NM_006269.2(RP1):c.3806C>T (p.Ser1269Phe)
|
rs1232195089
|
|
NM_006269.2(RP1):c.3811A>C (p.Lys1271Gln)
|
rs770305929
|
|
NM_006269.2(RP1):c.3816G>T (p.Glu1272Asp)
|
|
|
NM_006269.2(RP1):c.381G>T (p.Trp127Cys)
|
|
|
NM_006269.2(RP1):c.3827C>T (p.Pro1276Leu)
|
rs1806110455
|
|
NM_006269.2(RP1):c.3830G>A (p.Ser1277Asn)
|
|
|
NM_006269.2(RP1):c.3870G>T (p.Gln1290His)
|
rs886062993
|
|
NM_006269.2(RP1):c.3884A>T (p.Lys1295Met)
|
|
|
NM_006269.2(RP1):c.3890G>A (p.Cys1297Tyr)
|
|
|
NM_006269.2(RP1):c.389G>T (p.Ser130Ile)
|
|
|
NM_006269.2(RP1):c.3913C>T (p.Leu1305Phe)
|
rs753000004
|
|
NM_006269.2(RP1):c.392G>A (p.Arg131Gln)
|
|
|
NM_006269.2(RP1):c.392G>C (p.Arg131Pro)
|
rs752150870
|
|
NM_006269.2(RP1):c.392G>T (p.Arg131Leu)
|
rs752150870
|
|
NM_006269.2(RP1):c.3934G>A (p.Asp1312Asn)
|
|
|
NM_006269.2(RP1):c.3944G>A (p.Cys1315Tyr)
|
rs2129317379
|
|
NM_006269.2(RP1):c.3944G>T (p.Cys1315Phe)
|
|
|
NM_006269.2(RP1):c.3946G>A (p.Ala1316Thr)
|
|
|
NM_006269.2(RP1):c.3946G>T (p.Ala1316Ser)
|
|
|
NM_006269.2(RP1):c.3946_3947delinsTT (p.Ala1316Phe)
|
rs2129317380
|
|
NM_006269.2(RP1):c.3947C>T (p.Ala1316Val)
|
|
|
NM_006269.2(RP1):c.3956A>G (p.Glu1319Gly)
|
|
|
NM_006269.2(RP1):c.3985A>G (p.Ile1329Val)
|
|
|
NM_006269.2(RP1):c.3986T>A (p.Ile1329Asn)
|
rs1806116082
|
|
NM_006269.2(RP1):c.4006G>A (p.Val1336Ile)
|
|
|
NM_006269.2(RP1):c.4013T>A (p.Val1338Asp)
|
rs746414248
|
|
NM_006269.2(RP1):c.4013T>G (p.Val1338Gly)
|
rs746414248
|
|
NM_006269.2(RP1):c.406C>T (p.His136Tyr)
|
|
|
NM_006269.2(RP1):c.4081G>A (p.Glu1361Lys)
|
|
|
NM_006269.2(RP1):c.408C>G (p.His136Gln)
|
rs770826448
|
|
NM_006269.2(RP1):c.4094G>T (p.Gly1365Val)
|
|
|
NM_006269.2(RP1):c.4096G>C (p.Asp1366His)
|
|
|
NM_006269.2(RP1):c.4097A>G (p.Asp1366Gly)
|
|
|
NM_006269.2(RP1):c.4107G>C (p.Gln1369His)
|
|
|
NM_006269.2(RP1):c.4109A>T (p.Lys1370Ile)
|
rs1806122778
|
|
NM_006269.2(RP1):c.4111G>T (p.Asp1371Tyr)
|
rs1345041355
|
|
NM_006269.2(RP1):c.4112A>T (p.Asp1371Val)
|
rs1806122988
|
|
NM_006269.2(RP1):c.4130A>G (p.Asp1377Gly)
|
|
|
NM_006269.2(RP1):c.4131C>G (p.Asp1377Glu)
|
|
|
NM_006269.2(RP1):c.4132C>T (p.Pro1378Ser)
|
rs761897407
|
|
NM_006269.2(RP1):c.4133C>T (p.Pro1378Leu)
|
|
|
NM_006269.2(RP1):c.4136A>C (p.Glu1379Ala)
|
|
|
NM_006269.2(RP1):c.413C>T (p.Pro138Leu)
|
|
|
NM_006269.2(RP1):c.4158A>G (p.Thr1386=)
|
|
|
NM_006269.2(RP1):c.4178T>C (p.Val1393Ala)
|
rs747840454
|
|
NM_006269.2(RP1):c.418C>T (p.His140Tyr)
|
rs2129314357
|
|
NM_006269.2(RP1):c.4222G>A (p.Ala1408Thr)
|
rs1806128798
|
|
NM_006269.2(RP1):c.4226A>T (p.Glu1409Val)
|
|
|
NM_006269.2(RP1):c.4231G>T (p.Asp1411Tyr)
|
rs1806129380
|
|
NM_006269.2(RP1):c.4239A>C (p.Lys1413Asn)
|
|
|
NM_006269.2(RP1):c.4249C>G (p.Leu1417Val)
|
|
|
NM_006269.2(RP1):c.424G>A (p.Val142Ile)
|
|
|
NM_006269.2(RP1):c.424G>C (p.Val142Leu)
|
rs367600337
|
|
NM_006269.2(RP1):c.4253A>C (p.Asp1418Ala)
|
|
|
NM_006269.2(RP1):c.425T>A (p.Val142Glu)
|
rs2129314375
|
|
NM_006269.2(RP1):c.4262A>C (p.Glu1421Ala)
|
|
|
NM_006269.2(RP1):c.4267T>A (p.Cys1423Ser)
|
|
|
NM_006269.2(RP1):c.4268G>T (p.Cys1423Phe)
|
|
|
NM_006269.2(RP1):c.4274T>C (p.Leu1425Pro)
|
|
|
NM_006269.2(RP1):c.4279A>G (p.Lys1427Glu)
|
rs1806131259
|
|
NM_006269.2(RP1):c.4286A>G (p.Gln1429Arg)
|
|
|
NM_006269.2(RP1):c.4303A>G (p.Thr1435Ala)
|
|
|
NM_006269.2(RP1):c.430G>A (p.Val144Ile)
|
rs752270105
|
|
NM_006269.2(RP1):c.4314T>A (p.Asp1438Glu)
|
rs1175357628
|
|
NM_006269.2(RP1):c.4316T>C (p.Met1439Thr)
|
rs1806133533
|
|
NM_006269.2(RP1):c.4337A>G (p.Glu1446Gly)
|
|
|
NM_006269.2(RP1):c.434C>T (p.Ala145Val)
|
|
|
NM_006269.2(RP1):c.436G>C (p.Ala146Pro)
|
rs1805867883
|
|
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly)
|
rs1315126444
|
|
NM_006269.2(RP1):c.4379G>T (p.Arg1460Ile)
|
rs758211043
|
|
NM_006269.2(RP1):c.4384A>G (p.Ile1462Val)
|
|
|
NM_006269.2(RP1):c.4406A>G (p.Glu1469Gly)
|
rs2129317611
|
|
NM_006269.2(RP1):c.440C>T (p.Pro147Leu)
|
|
|
NM_006269.2(RP1):c.4416A>T (p.Glu1472Asp)
|
rs2129317614
|
|
NM_006269.2(RP1):c.4419C>A (p.Asn1473Lys)
|
|
|
NM_006269.2(RP1):c.4424A>G (p.Asp1475Gly)
|
rs1806137866
|
|
NM_006269.2(RP1):c.4427C>T (p.Thr1476Ile)
|
|
|
NM_006269.2(RP1):c.443G>A (p.Gly148Asp)
|
rs866545331
|
|
NM_006269.2(RP1):c.4459G>C (p.Glu1487Gln)
|
|
|
NM_006269.2(RP1):c.445A>C (p.Met149Leu)
|
rs778788543
|
|
NM_006269.2(RP1):c.445A>G (p.Met149Val)
|
rs778788543
|
|
NM_006269.2(RP1):c.4467C>T (p.Ala1489=)
|
rs794727639
|
|
NM_006269.2(RP1):c.447G>A (p.Met149Ile)
|
|
|
NM_006269.2(RP1):c.4492G>A (p.Val1498Ile)
|
rs1806142118
|
|
NM_006269.2(RP1):c.4496A>G (p.Glu1499Gly)
|
rs1311794892
|
|
NM_006269.2(RP1):c.44C>T (p.Thr15Met)
|
|
|
NM_006269.2(RP1):c.4533T>G (p.Ser1511Arg)
|
|
|
NM_006269.2(RP1):c.4534A>G (p.Lys1512Glu)
|
|
|
NM_006269.2(RP1):c.4544T>A (p.Met1515Lys)
|
|
|
NM_006269.2(RP1):c.4544T>C (p.Met1515Thr)
|
|
|
NM_006269.2(RP1):c.4577A>G (p.Glu1526Gly)
|
|
|
NM_006269.2(RP1):c.457C>G (p.Pro153Ala)
|
|
|
NM_006269.2(RP1):c.4586G>C (p.Ser1529Thr)
|
|
|
NM_006269.2(RP1):c.4593G>T (p.Arg1531Ser)
|
|
|
NM_006269.2(RP1):c.4594C>G (p.Leu1532Val)
|
|
|
NM_006269.2(RP1):c.4606C>T (p.Pro1536Ser)
|
rs767248972
|
|
NM_006269.2(RP1):c.461G>A (p.Arg154Gln)
|
|
|
NM_006269.2(RP1):c.4633A>C (p.Lys1545Gln)
|
rs767994258
|
|
NM_006269.2(RP1):c.4655C>T (p.Thr1552Ile)
|
|
|
NM_006269.2(RP1):c.465C>G (p.Ser155Arg)
|
rs1805870273
|
|
NM_006269.2(RP1):c.4670C>T (p.Thr1557Ile)
|
|
|
NM_006269.2(RP1):c.4680_4691del (p.Met1562_Lys1565del)
|
|
|
NM_006269.2(RP1):c.4681A>C (p.Lys1561Gln)
|
|
|
NM_006269.2(RP1):c.4685T>A (p.Met1562Lys)
|
rs774074476
|
|
NM_006269.2(RP1):c.4686G>A (p.Met1562Ile)
|
|
|
NM_006269.2(RP1):c.4687A>T (p.Met1563Leu)
|
|
|
NM_006269.2(RP1):c.4698T>G (p.Thr1566=)
|
|
|
NM_006269.2(RP1):c.4701G>A (p.Met1567Ile)
|
rs1358764700
|
|
NM_006269.2(RP1):c.4705A>T (p.Thr1569Ser)
|
|
|
NM_006269.2(RP1):c.4706C>G (p.Thr1569Ser)
|
|
|
NM_006269.2(RP1):c.470T>A (p.Val157Glu)
|
rs771020312
|
|
NM_006269.2(RP1):c.470T>C (p.Val157Ala)
|
|
|
NM_006269.2(RP1):c.4742A>G (p.Lys1581Arg)
|
rs766323335
|
|
NM_006269.2(RP1):c.4748T>A (p.Ile1583Asn)
|
|
|
NM_006269.2(RP1):c.4751A>G (p.Lys1584Arg)
|
|
|
NM_006269.2(RP1):c.4755T>G (p.Ser1585Arg)
|
|
|
NM_006269.2(RP1):c.4766C>A (p.Ser1589Tyr)
|
rs199756880
|
|
NM_006269.2(RP1):c.4766C>T (p.Ser1589Phe)
|
rs199756880
|
|
NM_006269.2(RP1):c.477C>A (p.Phe159Leu)
|
rs1805871215
|
|
NM_006269.2(RP1):c.4789G>A (p.Asp1597Asn)
|
rs2129317830
|
|
NM_006269.2(RP1):c.478A>T (p.Arg160Trp)
|
|
|
NM_006269.2(RP1):c.4791CAGTGA[1] (p.1597DS[1])
|
rs1306684551
|
|
NM_006269.2(RP1):c.4793G>A (p.Ser1598Asn)
|
rs1806154422
|
|
NM_006269.2(RP1):c.4802A>G (p.Glu1601Gly)
|
|
|
NM_006269.2(RP1):c.4804C>G (p.Gln1602Glu)
|
rs1359338583
|
|
NM_006269.2(RP1):c.4813A>G (p.Lys1605Glu)
|
|
|
NM_006269.2(RP1):c.4831C>T (p.Pro1611Ser)
|
|
|
NM_006269.2(RP1):c.4846G>A (p.Glu1616Lys)
|
rs868089931
|
|
NM_006269.2(RP1):c.4873A>T (p.Ile1625Leu)
|
|
|
NM_006269.2(RP1):c.487G>T (p.Asp163Tyr)
|
rs370436803
|
|
NM_006269.2(RP1):c.490C>G (p.Pro164Ala)
|
|
|
NM_006269.2(RP1):c.491C>G (p.Pro164Arg)
|
rs148346976
|
|
NM_006269.2(RP1):c.495G>T (p.Lys165Asn)
|
rs1186642498
|
|
NM_006269.2(RP1):c.506C>A (p.Ala169Glu)
|
rs747000732
|
|
NM_006269.2(RP1):c.515T>C (p.Leu172Pro)
|
|
|
NM_006269.2(RP1):c.518G>T (p.Ser173Ile)
|
|
|
NM_006269.2(RP1):c.529A>G (p.Thr177Ala)
|
rs1805874590
|
|
NM_006269.2(RP1):c.542A>G (p.Glu181Gly)
|
|
|
NM_006269.2(RP1):c.557A>C (p.His186Pro)
|
|
|
NM_006269.2(RP1):c.55G>A (p.Gly19Ser)
|
|
|
NM_006269.2(RP1):c.570C>A (p.Val190=)
|
|
|
NM_006269.2(RP1):c.574C>A (p.Gln192Lys)
|
|
|
NM_006269.2(RP1):c.578G>C (p.Arg193Pro)
|
rs754949406
|
|
NM_006269.2(RP1):c.584T>C (p.Val195Ala)
|
|
|
NM_006269.2(RP1):c.593T>C (p.Leu198Pro)
|
|
|
NM_006269.2(RP1):c.6095T>A (p.Phe2032Tyr)
|
rs1806205897
|
|
NM_006269.2(RP1):c.6098G>T (p.Cys2033Phe)
|
rs61739567
|
|
NM_006269.2(RP1):c.6101T>C (p.Met2034Thr)
|
rs1806206218
|
|
NM_006269.2(RP1):c.6112C>A (p.His2038Asn)
|
|
|
NM_006269.2(RP1):c.6114C>G (p.His2038Gln)
|
|
|
NM_006269.2(RP1):c.6119C>A (p.Ser2040Ter)
|
rs1563333726
|
|
NM_006269.2(RP1):c.6125T>C (p.Leu2042Ser)
|
rs1806207230
|
|
NM_006269.2(RP1):c.6149A>G (p.Asn2050Ser)
|
rs1255944226
|
|
NM_006269.2(RP1):c.615+3G>T
|
rs199632605
|
|
NM_006269.2(RP1):c.6164G>C (p.Ser2055Thr)
|
|
|
NM_006269.2(RP1):c.6166G>A (p.Gly2056Ser)
|
|
|
NM_006269.2(RP1):c.616G>A (p.Val206Ile)
|
|
|
NM_006269.2(RP1):c.6173C>T (p.Thr2058Ile)
|
rs2129318587
|
|
NM_006269.2(RP1):c.6182T>C (p.Ile2061Thr)
|
|
|
NM_006269.2(RP1):c.6190G>T (p.Ala2064Ser)
|
|
|
NM_006269.2(RP1):c.6197A>G (p.Asp2066Gly)
|
|
|
NM_006269.2(RP1):c.6198_6200del (p.Asp2066del)
|
rs1806210601
|
|
NM_006269.2(RP1):c.6255A>T (p.Gln2085His)
|
rs886062995
|
|
NM_006269.2(RP1):c.6275A>G (p.Asn2092Ser)
|
|
|
NM_006269.2(RP1):c.6278_6279delinsTC (p.Cys2093Phe)
|
|
|
NM_006269.2(RP1):c.6295A>G (p.Met2099Val)
|
|
|
NM_006269.2(RP1):c.6298C>T (p.Leu2100Phe)
|
rs763216053
|
|
NM_006269.2(RP1):c.629A>G (p.Gln210Arg)
|
|
|
NM_006269.2(RP1):c.6302G>A (p.Gly2101Asp)
|
|
|
NM_006269.2(RP1):c.6302G>T (p.Gly2101Val)
|
|
|
NM_006269.2(RP1):c.6304C>A (p.Gln2102Lys)
|
|
|
NM_006269.2(RP1):c.6307G>T (p.Ala2103Ser)
|
|
|
NM_006269.2(RP1):c.6313C>G (p.Leu2105Val)
|
rs1806215456
|
|
NM_006269.2(RP1):c.6327C>A (p.Cys2109Ter)
|
rs1371811798
|
|
NM_006269.2(RP1):c.6330A>G (p.Gln2110=)
|
|
|
NM_006269.2(RP1):c.6338CCT[1] (p.Ser2114del)
|
rs749093680
|
|
NM_006269.2(RP1):c.6349A>G (p.Ile2117Val)
|
rs1806216538
|
|
NM_006269.2(RP1):c.6359G>T (p.Arg2120Ile)
|
|
|
NM_006269.2(RP1):c.6362A>G (p.Asn2121Ser)
|
rs2129318678
|
|
NM_006269.2(RP1):c.6373C>T (p.Leu2125Phe)
|
rs2129318689
|
|
NM_006269.2(RP1):c.6377G>A (p.Cys2126Tyr)
|
rs1064797346
|
|
NM_006269.2(RP1):c.6377G>T (p.Cys2126Phe)
|
|
|
NM_006269.2(RP1):c.6379A>C (p.Met2127Leu)
|
|
|
NM_006269.2(RP1):c.6379_6380dup (p.Met2127fs)
|
rs2129318694
|
|
NM_006269.2(RP1):c.6385G>C (p.Glu2129Gln)
|
|
|
NM_006269.2(RP1):c.6389G>C (p.Gly2130Ala)
|
|
|
NM_006269.2(RP1):c.6407G>T (p.Trp2136Leu)
|
rs1806218567
|
|
NM_006269.2(RP1):c.6412G>T (p.Glu2138Ter)
|
|
|
NM_006269.2(RP1):c.6421A>C (p.Ile2141Leu)
|
|
|
NM_006269.2(RP1):c.6421A>G (p.Ile2141Val)
|
rs907744519
|
|
NM_006269.2(RP1):c.6423dup (p.Leu2142fs)
|
rs1563333973
|
|
NM_006269.2(RP1):c.6428del (p.Asn2143fs)
|
|
|
NM_006269.2(RP1):c.6432_6439del (p.Leu2144fs)
|
rs1806219478
|
|
NM_006269.2(RP1):c.6461A>G (p.Glu2154Gly)
|
rs973168352
|
|
NM_006269.2(RP1):c.6464A>T (p.Asp2155Val)
|
|
|
NM_006269.2(RP1):c.649G>A (p.Gly217Arg)
|
rs1339553429
|
|
NM_006269.2(RP1):c.659T>G (p.Val220Gly)
|
rs2129314757
|
|
NM_006269.2(RP1):c.664G>A (p.Ala222Thr)
|
|
|
NM_006269.2(RP1):c.67C>T (p.Pro23Ser)
|
|
|
NM_006269.2(RP1):c.683A>T (p.Lys228Ile)
|
rs1805901267
|
|
NM_006269.2(RP1):c.704A>G (p.Gln235Arg)
|
|
|
NM_006269.2(RP1):c.719C>T (p.Pro240Leu)
|
|
|
NM_006269.2(RP1):c.71C>G (p.Pro24Arg)
|
rs2129314077
|
|
NM_006269.2(RP1):c.71C>T (p.Pro24Leu)
|
|
|
NM_006269.2(RP1):c.731C>G (p.Pro244Arg)
|
|
|
NM_006269.2(RP1):c.736A>T (p.Ile246Phe)
|
rs550073225
|
|
NM_006269.2(RP1):c.740C>T (p.Ser247Phe)
|
rs2129314793
|
|
NM_006269.2(RP1):c.746G>A (p.Arg249His)
|
|
|
NM_006269.2(RP1):c.746G>C (p.Arg249Pro)
|
rs373574136
|
|
NM_006269.2(RP1):c.746G>T (p.Arg249Leu)
|
rs373574136
|
|
NM_006269.2(RP1):c.758A>C (p.Lys253Thr)
|
|
|
NM_006269.2(RP1):c.761G>T (p.Gly254Val)
|
|
|
NM_006269.2(RP1):c.786G>A (p.Lys262=)
|
rs113763758
|
|
NM_006269.2(RP1):c.787+4A>C
|
|
|
NM_006269.2(RP1):c.787+5G>A
|
|
|
NM_006269.2(RP1):c.788-1G>A
|
|
|
NM_006269.2(RP1):c.788-2_790del
|
rs779627969
|
|
NM_006269.2(RP1):c.830C>G (p.Ser277Cys)
|
rs267601949
|
|
NM_006269.2(RP1):c.830C>T (p.Ser277Phe)
|
rs267601949
|
|
NM_006269.2(RP1):c.836C>T (p.Ser279Phe)
|
rs375744003
|
|
NM_006269.2(RP1):c.864C>G (p.Cys288Trp)
|
rs1805980371
|
|
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
|
|
|
NM_006269.2(RP1):c.872A>G (p.Asp291Gly)
|
|
|
NM_006269.2(RP1):c.883G>A (p.Val295Ile)
|
rs1321792993
|
|
NM_006269.2(RP1):c.886C>G (p.Pro296Ala)
|
|
|
NM_006269.2(RP1):c.951T>A (p.Asp317Glu)
|
rs1805982801
|
|
NM_006269.2(RP1):c.961_963del (p.Lys321del)
|
rs2129315881
|
|
NM_006269.2(RP1):c.968T>C (p.Ile323Thr)
|
|
|
NM_006269.2(RP1):c.970A>G (p.Ile324Val)
|
|
|
NM_006269.2(RP1):c.981A>G (p.Gln327=)
|
rs1442014451
|
|
NM_006269.2(RP1):c.986G>T (p.Gly329Val)
|
rs1229278794
|
|