NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)
|
rs2293869
|
0.33006
|
NM_006269.2(RP1):c.2615G>A (p.Arg872His)
|
rs444772
|
0.24558
|
NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln)
|
rs35084330
|
0.03211
|
NM_006269.2(RP1):c.3699C>T (p.Ser1233=)
|
rs114557304
|
0.03129
|
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)
|
rs77775126
|
0.00985
|
NM_006269.2(RP1):c.2255C>T (p.Thr752Met)
|
rs28399531
|
0.00832
|
NM_006269.2(RP1):c.2991T>C (p.Asn997=)
|
rs112667487
|
0.00829
|
NM_006269.2(RP1):c.2833G>T (p.Val945Leu)
|
rs16920621
|
0.00690
|
NM_006269.2(RP1):c.4565G>A (p.Gly1522Asp)
|
rs77860871
|
0.00580
|
NM_006269.2(RP1):c.885T>C (p.Val295=)
|
rs80043423
|
0.00468
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
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.279G>T (p.Thr93=)
|
rs144293929
|
0.00184
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
NM_006269.2(RP1):c.4509T>C (p.Thr1503=)
|
rs144274712
|
0.00151
|
NM_006269.2(RP1):c.4512A>G (p.Leu1504=)
|
rs148722424
|
0.00150
|
NM_006269.2(RP1):c.2245C>T (p.Leu749Phe)
|
rs147990983
|
0.00147
|
NM_006269.2(RP1):c.6366T>C (p.Ile2122=)
|
rs114157620
|
0.00144
|
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.4511T>C (p.Leu1504Ser)
|
rs138106612
|
0.00127
|
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)
|
rs146256526
|
0.00113
|
NM_006269.2(RP1):c.2385C>T (p.Ile795=)
|
rs184739468
|
0.00105
|
NM_006269.2(RP1):c.487G>A (p.Asp163Asn)
|
rs370436803
|
0.00074
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
NM_006269.2(RP1):c.419A>G (p.His140Arg)
|
rs147736171
|
0.00073
|
NM_006269.2(RP1):c.615+16G>T
|
rs199894846
|
0.00064
|
NM_006269.2(RP1):c.1334G>A (p.Arg445His)
|
rs757110150
|
0.00058
|
NM_006269.2(RP1):c.3976G>C (p.Ala1326Pro)
|
rs114797722
|
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.618T>C (p.Val206=)
|
rs146337514
|
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.3657T>C (p.Ser1219=)
|
rs145115379
|
0.00029
|
NM_006269.2(RP1):c.1632A>G (p.Ala544=)
|
rs147786754
|
0.00026
|
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.1530A>G (p.Ser510=)
|
rs148663385
|
0.00023
|
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.2450A>G (p.Lys817Arg)
|
rs560123447
|
0.00015
|
NM_006269.2(RP1):c.2116G>C (p.Gly706Arg)
|
rs199879316
|
0.00014
|
NM_006269.2(RP1):c.2938G>A (p.Gly980Ser)
|
rs202226256
|
0.00014
|
NM_006269.2(RP1):c.3589A>G (p.Ser1197Gly)
|
rs201446128
|
0.00014
|
NM_006269.2(RP1):c.563C>A (p.Thr188Lys)
|
rs201235412
|
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.441C>T (p.Pro147=)
|
rs547844896
|
0.00012
|
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.4488A>G (p.Glu1496=)
|
rs370268072
|
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.2894G>T (p.Ser965Ile)
|
rs201110322
|
0.00009
|
NM_006269.2(RP1):c.2905A>G (p.Met969Val)
|
rs181497543
|
0.00009
|
NM_006269.2(RP1):c.3024G>A (p.Gln1008=)
|
rs555160408
|
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.3999C>T (p.Tyr1333=)
|
rs146602041
|
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.4131C>T (p.Asp1377=)
|
rs538825686
|
0.00007
|
NM_006269.2(RP1):c.4269T>C (p.Cys1423=)
|
rs540468439
|
0.00007
|
NM_006269.2(RP1):c.4308C>T (p.Ser1436=)
|
rs190591946
|
0.00007
|
NM_006269.2(RP1):c.984C>T (p.Asp328=)
|
rs776574526
|
0.00007
|
NM_006269.2(RP1):c.1595A>G (p.Glu532Gly)
|
rs371028735
|
0.00006
|
NM_006269.2(RP1):c.1629T>C (p.Ser543=)
|
rs746083306
|
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.315A>G (p.Leu105=)
|
rs764145254
|
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.4665A>G (p.Gly1555=)
|
rs929619376
|
0.00006
|
NM_006269.2(RP1):c.466C>T (p.Leu156=)
|
rs568059775
|
0.00006
|
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg)
|
rs113911625
|
0.00006
|
NM_006269.2(RP1):c.897C>T (p.Tyr299=)
|
rs534494268
|
0.00006
|
NM_006269.2(RP1):c.1180A>G (p.Met394Val)
|
rs763523179
|
0.00005
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
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.2508G>A (p.Pro836=)
|
rs763905641
|
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.324C>T (p.His108=)
|
rs141074157
|
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.6210C>T (p.Asn2070=)
|
rs767325122
|
0.00005
|
NM_006269.2(RP1):c.1136G>T (p.Gly379Val)
|
rs573551979
|
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.1625C>G (p.Ser542Ter)
|
rs779334655
|
0.00004
|
NM_006269.2(RP1):c.2339G>T (p.Arg780Ile)
|
rs762382791
|
0.00004
|
NM_006269.2(RP1):c.2622G>A (p.Gly874=)
|
rs369939931
|
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.3048T>C (p.Tyr1016=)
|
rs763034533
|
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.3966C>T (p.Thr1322=)
|
rs753573882
|
0.00003
|
NM_006269.2(RP1):c.4161G>A (p.Leu1387=)
|
rs780607488
|
0.00003
|
NM_006269.2(RP1):c.4175A>G (p.Asn1392Ser)
|
rs780518944
|
0.00003
|
NM_006269.2(RP1):c.4200C>T (p.Gly1400=)
|
rs770815082
|
0.00003
|
NM_006269.2(RP1):c.424G>T (p.Val142Leu)
|
rs367600337
|
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.474C>T (p.Val158=)
|
rs1002516680
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_006269.2(RP1):c.662C>T (p.Ala221Val)
|
rs760561079
|
0.00003
|
NM_006269.2(RP1):c.1126C>T (p.Arg376Ter)
|
rs760689800
|
0.00002
|
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.1498_1499del (p.Met500fs)
|
rs765129639
|
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.1756T>C (p.Leu586=)
|
rs758592527
|
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.1986del (p.Lys663fs)
|
rs754246929
|
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.2317C>A (p.Leu773Ile)
|
rs892285778
|
0.00002
|
NM_006269.2(RP1):c.2381A>G (p.Glu794Gly)
|
rs905082467
|
0.00002
|
NM_006269.2(RP1):c.2496T>C (p.Asp832=)
|
rs751925476
|
0.00002
|
NM_006269.2(RP1):c.2521G>A (p.Glu841Lys)
|
rs1472013734
|
0.00002
|
NM_006269.2(RP1):c.2556G>A (p.Lys852=)
|
rs1385725559
|
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.2937C>T (p.Ala979=)
|
rs201613551
|
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.3504G>A (p.Lys1168=)
|
rs191997072
|
0.00002
|
NM_006269.2(RP1):c.3641C>T (p.Thr1214Met)
|
rs368074316
|
0.00002
|
NM_006269.2(RP1):c.3774A>C (p.Pro1258=)
|
rs779999712
|
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.429C>G (p.Ala143=)
|
rs768070088
|
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.1037C>A (p.Thr346Asn)
|
rs1167725394
|
0.00001
|
NM_006269.2(RP1):c.1083T>C (p.Asn361=)
|
rs1235276964
|
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.1265dup (p.Ala423fs)
|
rs770659908
|
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.1444C>T (p.Gln482Ter)
|
rs1157925654
|
0.00001
|
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter)
|
rs765035454
|
0.00001
|
NM_006269.2(RP1):c.1474G>A (p.Gly492Arg)
|
rs561673450
|
0.00001
|
NM_006269.2(RP1):c.1555C>T (p.Gln519Ter)
|
rs1554519459
|
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.1641T>G (p.Ala547=)
|
rs374344876
|
0.00001
|
NM_006269.2(RP1):c.1659A>G (p.Thr553=)
|
rs1230748428
|
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.1875T>C (p.Asn625=)
|
rs1000583424
|
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.1998A>G (p.Ser666=)
|
rs1806029711
|
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.2256G>A (p.Thr752=)
|
rs748149366
|
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.2463T>C (p.His821=)
|
rs780108007
|
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.2511A>G (p.Gln837=)
|
rs753558619
|
0.00001
|
NM_006269.2(RP1):c.2520A>G (p.Ala840=)
|
rs368447697
|
0.00001
|
NM_006269.2(RP1):c.2529A>T (p.Ala843=)
|
rs750369478
|
0.00001
|
NM_006269.2(RP1):c.2604C>T (p.Ser868=)
|
rs372895901
|
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.2826G>A (p.Thr942=)
|
rs1475880003
|
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.314T>C (p.Leu105Pro)
|
rs760751066
|
0.00001
|
NM_006269.2(RP1):c.3199G>A (p.Ala1067Thr)
|
rs866421606
|
0.00001
|
NM_006269.2(RP1):c.3216T>C (p.Asp1072=)
|
rs926323176
|
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.3360A>C (p.Ala1120=)
|
rs756863600
|
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.3756G>A (p.Leu1252=)
|
rs763850510
|
0.00001
|
NM_006269.2(RP1):c.3786C>T (p.Cys1262=)
|
rs1490877675
|
0.00001
|
NM_006269.2(RP1):c.3951A>G (p.Gln1317=)
|
rs1380828230
|
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.4105C>T (p.Gln1369Ter)
|
rs774428356
|
0.00001
|
NM_006269.2(RP1):c.4194C>G (p.Ser1398=)
|
rs111678480
|
0.00001
|
NM_006269.2(RP1):c.4224A>G (p.Ala1408=)
|
rs750721836
|
0.00001
|
NM_006269.2(RP1):c.4232A>G (p.Asp1411Gly)
|
rs1481855221
|
0.00001
|
NM_006269.2(RP1):c.4275A>G (p.Leu1425=)
|
rs369155601
|
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.4347C>G (p.Gly1449=)
|
rs1321915339
|
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.4482C>A (p.Ile1494=)
|
rs779152108
|
0.00001
|
NM_006269.2(RP1):c.4485A>G (p.Gln1495=)
|
rs1372307817
|
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.4804C>T (p.Gln1602Ter)
|
rs1359338583
|
0.00001
|
NM_006269.2(RP1):c.4812T>C (p.Tyr1604=)
|
rs1248796772
|
0.00001
|
NM_006269.2(RP1):c.4835A>G (p.Asn1612Ser)
|
rs372411580
|
0.00001
|
NM_006269.2(RP1):c.4845C>T (p.Gly1615=)
|
rs751632799
|
0.00001
|
NM_006269.2(RP1):c.4853C>T (p.Thr1618Ile)
|
rs375156216
|
0.00001
|
NM_006269.2(RP1):c.4863A>G (p.Lys1621=)
|
rs1806156778
|
0.00001
|
NM_006269.2(RP1):c.50C>A (p.Ser17Tyr)
|
rs751706452
|
0.00001
|
NM_006269.2(RP1):c.531C>T (p.Thr177=)
|
rs774495291
|
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.6108C>T (p.Phe2036=)
|
rs377546732
|
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.612G>A (p.Arg204=)
|
rs374538807
|
0.00001
|
NM_006269.2(RP1):c.615+2T>A
|
rs776027191
|
0.00001
|
NM_006269.2(RP1):c.616-7C>T
|
rs779213123
|
0.00001
|
NM_006269.2(RP1):c.6286T>A (p.Phe2096Ile)
|
rs773570888
|
0.00001
|
NM_006269.2(RP1):c.6312C>T (p.Cys2104=)
|
rs759136487
|
0.00001
|
NM_006269.2(RP1):c.666A>C (p.Ala222=)
|
rs750540431
|
0.00001
|
NM_006269.2(RP1):c.715C>G (p.Leu239Val)
|
rs755182172
|
0.00001
|
NM_006269.2(RP1):c.72del (p.Arg25fs)
|
rs921322180
|
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.795A>G (p.Thr265=)
|
rs771635634
|
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.831T>C (p.Ser277=)
|
rs368111010
|
0.00001
|
NM_006269.2(RP1):c.871G>C (p.Asp291His)
|
rs767490081
|
0.00001
|
NM_006269.2(RP1):c.945T>C (p.Ser315=)
|
rs1213317379
|
0.00001
|
NM_006269.2(RP1):c.991A>G (p.Met331Val)
|
rs370586234
|
0.00001
|
NC_000008.10:g.(?_55537210)_(55542913_?)del
|
|
|
NM_006269.2(RP1):c.1007A>C (p.Lys336Thr)
|
|
|
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter)
|
rs1805984836
|
|
NM_006269.2(RP1):c.1018A>G (p.Arg340Gly)
|
|
|
NM_006269.2(RP1):c.1019G>C (p.Arg340Thr)
|
|
|
NM_006269.2(RP1):c.1047G>A (p.Trp349Ter)
|
rs1805986090
|
|
NM_006269.2(RP1):c.1055C>T (p.Thr352Ile)
|
|
|
NM_006269.2(RP1):c.1070G>A (p.Gly357Asp)
|
rs1805986824
|
|
NM_006269.2(RP1):c.1074T>C (p.Pro358=)
|
|
|
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.1110A>G (p.Pro370=)
|
rs2129315945
|
|
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.1137T>C (p.Gly379=)
|
rs1373925871
|
|
NM_006269.2(RP1):c.1158A>T (p.Ser386=)
|
rs765680798
|
|
NM_006269.2(RP1):c.1166C>A (p.Ala389Glu)
|
rs2129315970
|
|
NM_006269.2(RP1):c.1172T>A (p.Val391Glu)
|
|
|
NM_006269.2(RP1):c.1173G>A (p.Val391=)
|
|
|
NM_006269.2(RP1):c.1180A>C (p.Met394Leu)
|
|
|
NM_006269.2(RP1):c.1180A>T (p.Met394Leu)
|
rs763523179
|
|
NM_006269.2(RP1):c.1192A>G (p.Ser398Gly)
|
|
|
NM_006269.2(RP1):c.1199_1200del (p.Gln400fs)
|
|
|
NM_006269.2(RP1):c.1204G>A (p.Gly402Ser)
|
|
|
NM_006269.2(RP1):c.1205G>A (p.Gly402Asp)
|
|
|
NM_006269.2(RP1):c.1224A>G (p.Ile408Met)
|
rs2129316000
|
|
NM_006269.2(RP1):c.1234dup (p.Met412fs)
|
rs760283610
|
|
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.1269T>A (p.Ala423=)
|
rs2129316024
|
|
NM_006269.2(RP1):c.126G>C (p.Lys42Asn)
|
rs1161761797
|
|
NM_006269.2(RP1):c.1273T>C (p.Trp425Arg)
|
|
|
NM_006269.2(RP1):c.1274_1301del (p.Trp425fs)
|
rs2129316028
|
|
NM_006269.2(RP1):c.1280A>C (p.Asn427Thr)
|
rs1331133343
|
|
NM_006269.2(RP1):c.1296A>G (p.Thr432=)
|
rs2129316038
|
|
NM_006269.2(RP1):c.1299_1306dup (p.Gln436fs)
|
|
|
NM_006269.2(RP1):c.1309G>A (p.Gly437Arg)
|
|
|
NM_006269.2(RP1):c.1313C>T (p.Thr438Ile)
|
rs1451687014
|
|
NM_006269.2(RP1):c.1328del (p.Lys443fs)
|
|
|
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.1395C>T (p.Gly465=)
|
|
|
NM_006269.2(RP1):c.139dup (p.Gln47fs)
|
rs751635650
|
|
NM_006269.2(RP1):c.1402A>T (p.Thr468Ser)
|
rs1185602873
|
|
NM_006269.2(RP1):c.1404C>T (p.Thr468=)
|
|
|
NM_006269.2(RP1):c.1409T>C (p.Val470Ala)
|
|
|
NM_006269.2(RP1):c.1414G>A (p.Glu472Lys)
|
rs1806003101
|
|
NM_006269.2(RP1):c.1419T>G (p.Thr473=)
|
rs2129316092
|
|
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.143del (p.Phe48fs)
|
|
|
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.1462del (p.Glu488fs)
|
rs878853327
|
|
NM_006269.2(RP1):c.1483A>C (p.Lys495Gln)
|
|
|
NM_006269.2(RP1):c.1492T>G (p.Tyr498Asp)
|
rs2129316140
|
|
NM_006269.2(RP1):c.150G>A (p.Gly50=)
|
rs2129314129
|
|
NM_006269.2(RP1):c.150_168delinsAGACCCCCAATT (p.Val51fs)
|
rs2129314132
|
|
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.1527A>C (p.Ser509=)
|
rs1554519455
|
|
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.1587A>C (p.Ser529=)
|
|
|
NM_006269.2(RP1):c.15T>C (p.Pro5=)
|
|
|
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.1617G>A (p.Leu539=)
|
|
|
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.1647T>G (p.Val549=)
|
|
|
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.168C>T (p.Asn56=)
|
rs2129314152
|
|
NM_006269.2(RP1):c.1704A>C (p.Ser568=)
|
|
|
NM_006269.2(RP1):c.1706C>T (p.Thr569Ile)
|
rs139471370
|
|
NM_006269.2(RP1):c.1719C>T (p.Asn573=)
|
|
|
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)
|
rs750542962
|
|
NM_006269.2(RP1):c.1720_1721del (p.Ser574fs)
|
rs2129316266
|
|
NM_006269.2(RP1):c.1732G>T (p.Glu578Ter)
|
rs2129316272
|
|
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.1794T>G (p.Tyr598Ter)
|
|
|
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.1846dup (p.Ser616fs)
|
rs2129316318
|
|
NM_006269.2(RP1):c.1888C>G (p.Pro630Ala)
|
|
|
NM_006269.2(RP1):c.188T>C (p.Phe63Ser)
|
rs369919266
|
|
NM_006269.2(RP1):c.1890A>G (p.Pro630=)
|
rs1585562850
|
|
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.1961del (p.Gly653_Leu654insTer)
|
|
|
NM_006269.2(RP1):c.1972C>T (p.Pro658Ser)
|
|
|
NM_006269.2(RP1):c.1974A>G (p.Pro658=)
|
|
|
NM_006269.2(RP1):c.1975A>T (p.Lys659Ter)
|
rs1806028872
|
|
NM_006269.2(RP1):c.1980T>C (p.Asn660=)
|
|
|
NM_006269.2(RP1):c.1986G>A (p.Lys662=)
|
|
|
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.2015del (p.Lys672fs)
|
|
|
NM_006269.2(RP1):c.2015dup (p.Lys673fs)
|
rs2129316376
|
|
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu)
|
rs766341403
|
|
NM_006269.2(RP1):c.2017A>T (p.Lys673Ter)
|
rs766341403
|
|
NM_006269.2(RP1):c.2018del (p.Lys673fs)
|
rs2129316381
|
|
NM_006269.2(RP1):c.2024A>G (p.Lys675Arg)
|
rs755107767
|
|
NM_006269.2(RP1):c.2025A>G (p.Lys675=)
|
rs908032972
|
|
NM_006269.2(RP1):c.2025A>T (p.Lys675Asn)
|
rs908032972
|
|
NM_006269.2(RP1):c.2025del (p.Lys675fs)
|
|
|
NM_006269.2(RP1):c.2025dup (p.Ser676fs)
|
rs1365669334
|
|
NM_006269.2(RP1):c.2027C>G (p.Ser676Cys)
|
rs767901469
|
|
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)
|
rs104894082
|
|
NM_006269.2(RP1):c.2030G>A (p.Arg677Gln)
|
rs940904438
|
|
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)
|
rs878853328
|
|
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)
|
rs104894083
|
|
NM_006269.2(RP1):c.2037del (p.Ala680fs)
|
|
|
NM_006269.2(RP1):c.2041A>G (p.Ile681Val)
|
|
|
NM_006269.2(RP1):c.2042delinsAA (p.Ile681fs)
|
rs1806031833
|
|
NM_006269.2(RP1):c.2047T>A (p.Ser683Thr)
|
rs2129316399
|
|
NM_006269.2(RP1):c.2053del (p.Tyr685fs)
|
|
|
NM_006269.2(RP1):c.2056C>T (p.Gln686Ter)
|
rs1554519533
|
|
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.2071G>T (p.Ala691Ser)
|
rs2129316411
|
|
NM_006269.2(RP1):c.2072del (p.Ala691fs)
|
rs2129316413
|
|
NM_006269.2(RP1):c.2077A>T (p.Lys693Ter)
|
|
|
NM_006269.2(RP1):c.2087T>A (p.Leu696His)
|
rs1467620845
|
|
NM_006269.2(RP1):c.2102G>A (p.Arg701Lys)
|
|
|
NM_006269.2(RP1):c.2103_2104insGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGAGAGA (p.Ile702delinsGlyTer)
|
rs2129316422
|
|
NM_006269.2(RP1):c.2105_2106insG (p.Ile702fs)
|
rs2129316431
|
|
NM_006269.2(RP1):c.2105_2108del (p.Ile702fs)
|
rs1806033441
|
|
NM_006269.2(RP1):c.210G>T (p.Leu70Phe)
|
rs1805851925
|
|
NM_006269.2(RP1):c.2110del (p.Thr704fs)
|
rs1806033714
|
|
NM_006269.2(RP1):c.2120G>A (p.Arg707Lys)
|
rs2129316439
|
|
NM_006269.2(RP1):c.2127A>C (p.Thr709=)
|
rs768555974
|
|
NM_006269.2(RP1):c.2138T>C (p.Ile713Thr)
|
rs2129316444
|
|
NM_006269.2(RP1):c.2150del (p.Asp716_Ser717insTer)
|
|
|
NM_006269.2(RP1):c.2156G>C (p.Ser719Thr)
|
|
|
NM_006269.2(RP1):c.2157_2256del (p.Ser719fs)
|
|
|
NM_006269.2(RP1):c.2161del (p.Gly723fs)
|
rs755429480
|
|
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)
|
rs1585563283
|
|
NM_006269.2(RP1):c.216del (p.Lys73fs)
|
|
|
NM_006269.2(RP1):c.2170G>A (p.Gly724Arg)
|
|
|
NM_006269.2(RP1):c.2172G>C (p.Gly724=)
|
|
|
NM_006269.2(RP1):c.2172_2185del (p.Ile725fs)
|
rs1554519546
|
|
NM_006269.2(RP1):c.2173dup (p.Ile725fs)
|
rs2129316466
|
|
NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter)
|
rs1585563328
|
|
NM_006269.2(RP1):c.2184G>C (p.Glu728Asp)
|
rs2129316474
|
|
NM_006269.2(RP1):c.2185del (p.Glu729fs)
|
|
|
NM_006269.2(RP1):c.2194C>T (p.Gln732Ter)
|
rs2129316479
|
|
NM_006269.2(RP1):c.21T>C (p.Thr7=)
|
|
|
NM_006269.2(RP1):c.2200del (p.Ser734fs)
|
rs1806036718
|
|
NM_006269.2(RP1):c.2206dup (p.Thr736fs)
|
rs1554519554
|
|
NM_006269.2(RP1):c.220G>A (p.Val74Met)
|
|
|
NM_006269.2(RP1):c.2210T>C (p.Val737Ala)
|
rs2129316489
|
|
NM_006269.2(RP1):c.2215G>T (p.Glu739Ter)
|
rs2129316492
|
|
NM_006269.2(RP1):c.2219C>A (p.Ser740Ter)
|
rs1554519555
|
|
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)
|
rs1554519555
|
|
NM_006269.2(RP1):c.2226T>G (p.Thr742=)
|
rs1585563394
|
|
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.2272del (p.His758fs)
|
rs2129316517
|
|
NM_006269.2(RP1):c.2273A>G (p.His758Arg)
|
|
|
NM_006269.2(RP1):c.2281A>C (p.Lys761Gln)
|
|
|
NM_006269.2(RP1):c.2285T>A (p.Leu762Ter)
|
rs2129316527
|
|
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)
|
rs869320726
|
|
NM_006269.2(RP1):c.2293A>C (p.Thr765Pro)
|
|
|
NM_006269.2(RP1):c.2296C>A (p.Gln766Lys)
|
|
|
NM_006269.2(RP1):c.2296C>T (p.Gln766Ter)
|
rs775731489
|
|
NM_006269.2(RP1):c.2303C>T (p.Ser768Phe)
|
rs1162608680
|
|
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter)
|
rs1488237523
|
|
NM_006269.2(RP1):c.2307G>C (p.Lys769Asn)
|
rs2129316544
|
|
NM_006269.2(RP1):c.2310T>G (p.Val770=)
|
|
|
NM_006269.2(RP1):c.2310del (p.Gln771fs)
|
rs1806040543
|
|
NM_006269.2(RP1):c.2314G>C (p.Gly772Arg)
|
rs1806040688
|
|
NM_006269.2(RP1):c.2321T>G (p.Leu774Ter)
|
rs1260291101
|
|
NM_006269.2(RP1):c.2323del (p.Thr775fs)
|
rs2129316559
|
|
NM_006269.2(RP1):c.2332A>T (p.Lys778Ter)
|
rs1806041389
|
|
NM_006269.2(RP1):c.2334del (p.Lys778fs)
|
rs2129316562
|
|
NM_006269.2(RP1):c.2334dup (p.Ser779fs)
|
|
|
NM_006269.2(RP1):c.2338A>G (p.Arg780Gly)
|
|
|
NM_006269.2(RP1):c.2342C>A (p.Ser781Ter)
|
rs1293654827
|
|
NM_006269.2(RP1):c.2342C>T (p.Ser781Leu)
|
|
|
NM_006269.2(RP1):c.2343A>G (p.Ser781=)
|
rs2129316567
|
|
NM_006269.2(RP1):c.2348dup (p.Asn783fs)
|
rs1806042579
|
|
NM_006269.2(RP1):c.2351_2356del (p.Lys784_Ile785del)
|
rs2129316576
|
|
NM_006269.2(RP1):c.2352_2356del (p.Ile785fs)
|
rs2129316571
|
|
NM_006269.2(RP1):c.2356A>G (p.Ser786Gly)
|
rs2129316579
|
|
NM_006269.2(RP1):c.2363G>A (p.Gly788Glu)
|
|
|
NM_006269.2(RP1):c.2364A>C (p.Gly788=)
|
rs747841240
|
|
NM_006269.2(RP1):c.2364A>G (p.Gly788=)
|
|
|
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter)
|
rs1365908727
|
|
NM_006269.2(RP1):c.2378G>A (p.Arg793Lys)
|
|
|
NM_006269.2(RP1):c.2380G>T (p.Glu794Ter)
|
|
|
NM_006269.2(RP1):c.2391_2392del (p.Arg798_Asp799insTer)
|
|
|
NM_006269.2(RP1):c.2397T>G (p.Asp799Glu)
|
rs762140861
|
|
NM_006269.2(RP1):c.2398A>T (p.Lys800Ter)
|
|
|
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.243G>A (p.Arg81=)
|
rs985225428
|
|
NM_006269.2(RP1):c.2453G>T (p.Ser818Ile)
|
rs2129316643
|
|
NM_006269.2(RP1):c.2456del (p.Leu819fs)
|
|
|
NM_006269.2(RP1):c.2473_2474delinsTA (p.Ile825Tyr)
|
|
|
NM_006269.2(RP1):c.2478T>C (p.Leu826=)
|
rs779118436
|
|
NM_006269.2(RP1):c.2482C>T (p.Gln828Ter)
|
|
|
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.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.2555del (p.Lys852fs)
|
|
|
NM_006269.2(RP1):c.2564del (p.Ser854_Leu855insTer)
|
rs1434495676
|
|
NM_006269.2(RP1):c.2570C>G (p.Ser857Ter)
|
rs1057524016
|
|
NM_006269.2(RP1):c.2574del (p.Val859fs)
|
|
|
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter)
|
rs1585563965
|
|
NM_006269.2(RP1):c.2591_2592del (p.Ile864fs)
|
|
|
NM_006269.2(RP1):c.2591_2600del (p.Ile864fs)
|
|
|
NM_006269.2(RP1):c.2593A>T (p.Thr865Ser)
|
rs2129316709
|
|
NM_006269.2(RP1):c.2596T>G (p.Leu866Val)
|
|
|
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs)
|
rs1554519635
|
|
NM_006269.2(RP1):c.259del (p.Arg87fs)
|
|
|
NM_006269.2(RP1):c.2600A>G (p.Lys867Arg)
|
rs2129316715
|
|
NM_006269.2(RP1):c.2607del (p.Lys871fs)
|
rs2129316716
|
|
NM_006269.2(RP1):c.2608A>C (p.Lys870Gln)
|
|
|
NM_006269.2(RP1):c.260G>C (p.Arg87Pro)
|
|
|
NM_006269.2(RP1):c.2611_2612insGAGAAAAGCAAAATGTCTATTCCGGTCTATTGCCTATTTTTTGAATTTGGATTTTGGTTTTCTTGCTATTGAGTTGTTTGAGTTCCTTATATATTTTGAGTAATAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAAAGCCAGAAAA (p.Lys871delinsArgGluLysGlnAsnValTyrSerGlyLeuLeuProIlePheTer)
|
rs2129316713
|
|
NM_006269.2(RP1):c.2613A>T (p.Lys871Asn)
|
|
|
NM_006269.2(RP1):c.2613dup (p.Arg872fs)
|
rs1449723475
|
|
NM_006269.2(RP1):c.2624A>G (p.Asp875Gly)
|
|
|
NM_006269.2(RP1):c.2626A>T (p.Lys876Ter)
|
|
|
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.2671del (p.Arg891fs)
|
rs1806057300
|
|
NM_006269.2(RP1):c.2676A>G (p.Ala892=)
|
rs2129316768
|
|
NM_006269.2(RP1):c.2678del (p.Asn893fs)
|
rs1806057524
|
|
NM_006269.2(RP1):c.2700dup (p.Pro901fs)
|
rs797044735
|
|
NM_006269.2(RP1):c.2716G>C (p.Ala906Pro)
|
|
|
NM_006269.2(RP1):c.2716G>T (p.Ala906Ser)
|
|
|
NM_006269.2(RP1):c.2747_2763del (p.Ile916fs)
|
rs2129316820
|
|
NM_006269.2(RP1):c.2748A>G (p.Ile916Met)
|
rs1806060299
|
|
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)
|
rs878853326
|
|
NM_006269.2(RP1):c.2756G>T (p.Trp919Leu)
|
|
|
NM_006269.2(RP1):c.2766C>A (p.Asn922Lys)
|
|
|
NM_006269.2(RP1):c.2773C>A (p.Pro925Thr)
|
rs1806061663
|
|
NM_006269.2(RP1):c.2780del (p.Pro927fs)
|
rs2129316850
|
|
NM_006269.2(RP1):c.2792C>G (p.Pro931Arg)
|
|
|
NM_006269.2(RP1):c.2801C>G (p.Ser934Ter)
|
|
|
NM_006269.2(RP1):c.2805T>A (p.Ala935=)
|
rs1441133432
|
|
NM_006269.2(RP1):c.2811A>G (p.Val937=)
|
|
|
NM_006269.2(RP1):c.282C>G (p.Arg94=)
|
|
|
NM_006269.2(RP1):c.283C>T (p.Leu95=)
|
|
|
NM_006269.2(RP1):c.284T>C (p.Leu95Pro)
|
|
|
NM_006269.2(RP1):c.284dup (p.Glu96fs)
|
rs1805856024
|
|
NM_006269.2(RP1):c.2866_2876del (p.Asp956fs)
|
rs2129316890
|
|
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.2918del (p.Lys973fs)
|
rs2129316919
|
|
NM_006269.2(RP1):c.2925A>G (p.Ile975Met)
|
|
|
NM_006269.2(RP1):c.2928T>A (p.Thr976=)
|
|
|
NM_006269.2(RP1):c.292C>G (p.Leu98Val)
|
rs1805856546
|
|
NM_006269.2(RP1):c.294_302del (p.Asp100_Glu102del)
|
rs2129314243
|
|
NM_006269.2(RP1):c.2953_2956del (p.Asn985fs)
|
rs1806069993
|
|
NM_006269.2(RP1):c.2956C>T (p.Leu986=)
|
|
|
NM_006269.2(RP1):c.2960G>A (p.Cys987Tyr)
|
|
|
NM_006269.2(RP1):c.2963A>C (p.Lys988Thr)
|
|
|
NM_006269.2(RP1):c.2968G>T (p.Gly990Ter)
|
|
|
NM_006269.2(RP1):c.297G>A (p.Glu99=)
|
|
|
NM_006269.2(RP1):c.3006A>G (p.Glu1002=)
|
rs1585564799
|
|
NM_006269.2(RP1):c.3008A>G (p.Asp1003Gly)
|
rs1806073071
|
|
NM_006269.2(RP1):c.300C>T (p.Asp100=)
|
|
|
NM_006269.2(RP1):c.3014A>G (p.His1005Arg)
|
|
|
NM_006269.2(RP1):c.3018G>A (p.Glu1006=)
|
rs759554556
|
|
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.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.3077del (p.Leu1026fs)
|
|
|
NM_006269.2(RP1):c.3093_3102del (p.Asn1032fs)
|
|
|
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.3117T>C (p.His1039=)
|
|
|
NM_006269.2(RP1):c.3119T>C (p.Ile1040Thr)
|
rs1251985216
|
|
NM_006269.2(RP1):c.312_315del (p.Leu105fs)
|
rs1805857731
|
|
NM_006269.2(RP1):c.3134C>G (p.Ser1045Ter)
|
rs1806079109
|
|
NM_006269.2(RP1):c.3157del (p.Tyr1053fs)
|
rs748709396
|
|
NM_006269.2(RP1):c.3159C>T (p.Tyr1053=)
|
|
|
NM_006269.2(RP1):c.315A>C (p.Leu105=)
|
rs764145254
|
|
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.3180A>G (p.Arg1060=)
|
|
|
NM_006269.2(RP1):c.3185G>T (p.Arg1062Met)
|
rs2129317028
|
|
NM_006269.2(RP1):c.318T>C (p.Cys106=)
|
|
|
NM_006269.2(RP1):c.3193G>T (p.Val1065Leu)
|
|
|
NM_006269.2(RP1):c.3195A>G (p.Val1065=)
|
|
|
NM_006269.2(RP1):c.3213A>G (p.Val1071=)
|
rs2129317040
|
|
NM_006269.2(RP1):c.3215A>G (p.Asp1072Gly)
|
|
|
NM_006269.2(RP1):c.3215A>T (p.Asp1072Val)
|
|
|
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.3255C>A (p.Val1085=)
|
rs145907351
|
|
NM_006269.2(RP1):c.3269A>G (p.Gln1090Arg)
|
|
|
NM_006269.2(RP1):c.328A>G (p.Arg110Gly)
|
rs1805859214
|
|
NM_006269.2(RP1):c.3316G>T (p.Val1106Phe)
|
|
|
NM_006269.2(RP1):c.3317T>A (p.Val1106Asp)
|
rs1043235694
|
|
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.3377C>T (p.Thr1126Ile)
|
|
|
NM_006269.2(RP1):c.3384C>T (p.Leu1128=)
|
rs138461381
|
|
NM_006269.2(RP1):c.3388C>T (p.Leu1130=)
|
rs2129317106
|
|
NM_006269.2(RP1):c.3397C>A (p.Leu1133Ile)
|
|
|
NM_006269.2(RP1):c.3398T>G (p.Leu1133Arg)
|
|
|
NM_006269.2(RP1):c.339G>A (p.Gln113=)
|
rs1805859577
|
|
NM_006269.2(RP1):c.3416del (p.Lys1139fs)
|
|
|
NM_006269.2(RP1):c.3419G>A (p.Gly1140Glu)
|
rs1025535519
|
|
NM_006269.2(RP1):c.3419del (p.Gly1140fs)
|
rs1806088386
|
|
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.3492G>A (p.Leu1164=)
|
rs2129317154
|
|
NM_006269.2(RP1):c.3515T>C (p.Ile1172Thr)
|
|
|
NM_006269.2(RP1):c.3535T>C (p.Leu1179=)
|
rs778979885
|
|
NM_006269.2(RP1):c.3544G>A (p.Ala1182Thr)
|
|
|
NM_006269.2(RP1):c.354C>G (p.Asp118Glu)
|
|
|
NM_006269.2(RP1):c.3591T>C (p.Ser1197=)
|
|
|
NM_006269.2(RP1):c.35T>C (p.Ile12Thr)
|
|
|
NM_006269.2(RP1):c.3600A>G (p.Glu1200=)
|
rs909711479
|
|
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.3615A>G (p.Pro1205=)
|
|
|
NM_006269.2(RP1):c.361dup (p.Arg121fs)
|
|
|
NM_006269.2(RP1):c.3625T>C (p.Ser1209Pro)
|
rs1806099628
|
|
NM_006269.2(RP1):c.3632del (p.Asn1211fs)
|
rs1806099964
|
|
NM_006269.2(RP1):c.3639_3652del (p.Thr1214fs)
|
rs1563331663
|
|
NM_006269.2(RP1):c.3640A>T (p.Thr1214Ser)
|
|
|
NM_006269.2(RP1):c.3642G>A (p.Thr1214=)
|
rs371229971
|
|
NM_006269.2(RP1):c.3649A>G (p.Ile1217Val)
|
rs1043368323
|
|
NM_006269.2(RP1):c.3654G>A (p.Gln1218=)
|
rs2129317229
|
|
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.3672T>C (p.Ser1224=)
|
|
|
NM_006269.2(RP1):c.3687A>G (p.Thr1229=)
|
|
|
NM_006269.2(RP1):c.368_369dup (p.Pro124fs)
|
rs1246397238
|
|
NM_006269.2(RP1):c.3690A>G (p.Gln1230=)
|
|
|
NM_006269.2(RP1):c.369C>T (p.Arg123=)
|
rs749045018
|
|
NM_006269.2(RP1):c.3700T>A (p.Ser1234Thr)
|
rs552178472
|
|
NM_006269.2(RP1):c.3720T>C (p.Ser1240=)
|
rs2129317260
|
|
NM_006269.2(RP1):c.3728_3729del (p.Glu1243fs)
|
rs2129317263
|
|
NM_006269.2(RP1):c.3729G>A (p.Glu1243=)
|
rs1806106438
|
|
NM_006269.2(RP1):c.373C>G (p.Arg125Gly)
|
rs770787145
|
|
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.3790_3791del (p.Val1264fs)
|
|
|
NM_006269.2(RP1):c.3797del (p.Lys1266fs)
|
rs2129317292
|
|
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.3827C>T (p.Pro1276Leu)
|
rs1806110455
|
|
NM_006269.2(RP1):c.3830G>A (p.Ser1277Asn)
|
|
|
NM_006269.2(RP1):c.3843del (p.Pro1282fs)
|
rs769601671
|
|
NM_006269.2(RP1):c.3846T>A (p.Pro1282=)
|
|
|
NM_006269.2(RP1):c.3852T>C (p.Asp1284=)
|
|
|
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.3946_3947delinsTT (p.Ala1316Phe)
|
rs2129317380
|
|
NM_006269.2(RP1):c.3949C>T (p.Gln1317Ter)
|
rs2129317387
|
|
NM_006269.2(RP1):c.3956A>G (p.Glu1319Gly)
|
|
|
NM_006269.2(RP1):c.3960C>T (p.Asn1320=)
|
|
|
NM_006269.2(RP1):c.3972G>A (p.Glu1324=)
|
|
|
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.405G>A (p.Ala135=)
|
|
|
NM_006269.2(RP1):c.4062T>C (p.Asp1354=)
|
rs768149034
|
|
NM_006269.2(RP1):c.4077T>G (p.Thr1359=)
|
rs780936508
|
|
NM_006269.2(RP1):c.408C>G (p.His136Gln)
|
rs770826448
|
|
NM_006269.2(RP1):c.4094G>T (p.Gly1365Val)
|
|
|
NM_006269.2(RP1):c.4094del (p.Gly1365fs)
|
rs1806120012
|
|
NM_006269.2(RP1):c.4096G>C (p.Asp1366His)
|
|
|
NM_006269.2(RP1):c.4101_4102insGGCAGACTGCGGCGGCGGTGGTCTGAGGAAGTTCTATCTTGGCGCTAAAGCGGAGACGCATCCCCCGACCCGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGGTGATGAC (p.Ile1368delinsGlyArgLeuArgArgArgTrpSerGluGluValLeuSerTrpArgTer)
|
|
|
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.4140T>C (p.Tyr1380=)
|
|
|
NM_006269.2(RP1):c.4155T>C (p.Asn1385=)
|
|
|
NM_006269.2(RP1):c.4171del (p.Gln1391fs)
|
rs2129317503
|
|
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.4196del (p.Cys1399fs)
|
rs762951570
|
|
NM_006269.2(RP1):c.4207C>T (p.Leu1403=)
|
|
|
NM_006269.2(RP1):c.4212del (p.Ser1404fs)
|
rs1806128079
|
|
NM_006269.2(RP1):c.4222G>A (p.Ala1408Thr)
|
rs1806128798
|
|
NM_006269.2(RP1):c.4231G>T (p.Asp1411Tyr)
|
rs1806129380
|
|
NM_006269.2(RP1):c.4239A>C (p.Lys1413Asn)
|
|
|
NM_006269.2(RP1):c.423C>A (p.Pro141=)
|
|
|
NM_006269.2(RP1):c.423C>G (p.Pro141=)
|
rs766819017
|
|
NM_006269.2(RP1):c.4242_4243del (p.His1414fs)
|
rs767436678
|
|
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.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.429del (p.Val144fs)
|
rs1805867082
|
|
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.4323A>G (p.Glu1441=)
|
|
|
NM_006269.2(RP1):c.4327C>T (p.Arg1443Trp)
|
rs373109791
|
|
NM_006269.2(RP1):c.432C>G (p.Val144=)
|
|
|
NM_006269.2(RP1):c.4335T>C (p.Ser1445=)
|
|
|
NM_006269.2(RP1):c.4337A>G (p.Glu1446Gly)
|
|
|
NM_006269.2(RP1):c.436G>C (p.Ala146Pro)
|
rs1805867883
|
|
NM_006269.2(RP1):c.4370C>G (p.Ser1457Ter)
|
|
|
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.4404T>C (p.Phe1468=)
|
|
|
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.4419C>T (p.Asn1473=)
|
rs767898825
|
|
NM_006269.2(RP1):c.441C>G (p.Pro147=)
|
|
|
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.4470T>C (p.Thr1490=)
|
|
|
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.4503T>C (p.Ser1501=)
|
|
|
NM_006269.2(RP1):c.4506A>G (p.Lys1502=)
|
|
|
NM_006269.2(RP1):c.4533T>G (p.Ser1511Arg)
|
|
|
NM_006269.2(RP1):c.4534A>G (p.Lys1512Glu)
|
|
|
NM_006269.2(RP1):c.4571_4589del (p.Ile1524fs)
|
|
|
NM_006269.2(RP1):c.4577A>G (p.Glu1526Gly)
|
|
|
NM_006269.2(RP1):c.4582_4585del (p.Ile1528fs)
|
rs1200229021
|
|
NM_006269.2(RP1):c.4586G>C (p.Ser1529Thr)
|
|
|
NM_006269.2(RP1):c.4587_4590del (p.Ser1529fs)
|
rs766674210
|
|
NM_006269.2(RP1):c.458dup (p.Arg154fs)
|
rs781249059
|
|
NM_006269.2(RP1):c.4593G>T (p.Arg1531Ser)
|
|
|
NM_006269.2(RP1):c.4594C>G (p.Leu1532Val)
|
|
|
NM_006269.2(RP1):c.4594C>T (p.Leu1532=)
|
|
|
NM_006269.2(RP1):c.45G>A (p.Thr15=)
|
|
|
NM_006269.2(RP1):c.4611T>G (p.Ser1537=)
|
|
|
NM_006269.2(RP1):c.4632del (p.Lys1545fs)
|
|
|
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.4671T>A (p.Thr1557=)
|
|
|
NM_006269.2(RP1):c.4679del (p.Val1560fs)
|
|
|
NM_006269.2(RP1):c.4680_4691del (p.Met1562_Lys1565del)
|
|
|
NM_006269.2(RP1):c.4681A>C (p.Lys1561Gln)
|
|
|
NM_006269.2(RP1):c.4686G>A (p.Met1562Ile)
|
|
|
NM_006269.2(RP1):c.4687A>T (p.Met1563Leu)
|
|
|
NM_006269.2(RP1):c.469del (p.Val157fs)
|
rs2129314417
|
|
NM_006269.2(RP1):c.4701G>A (p.Met1567Ile)
|
rs1358764700
|
|
NM_006269.2(RP1):c.4706C>G (p.Thr1569Ser)
|
|
|
NM_006269.2(RP1):c.4709del (p.Gly1570fs)
|
rs2129317773
|
|
NM_006269.2(RP1):c.470T>A (p.Val157Glu)
|
rs771020312
|
|
NM_006269.2(RP1):c.4742A>G (p.Lys1581Arg)
|
rs766323335
|
|
NM_006269.2(RP1):c.4743dup (p.Cys1582fs)
|
rs886041040
|
|
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.4772G>A (p.Trp1591Ter)
|
|
|
NM_006269.2(RP1):c.477C>A (p.Phe159Leu)
|
rs1805871215
|
|
NM_006269.2(RP1):c.4788T>C (p.Pro1596=)
|
rs2129317825
|
|
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.490C>G (p.Pro164Ala)
|
|
|
NM_006269.2(RP1):c.491C>G (p.Pro164Arg)
|
rs148346976
|
|
NM_006269.2(RP1):c.491del (p.Pro164fs)
|
rs2129314434
|
|
NM_006269.2(RP1):c.492G>A (p.Pro164=)
|
|
|
NM_006269.2(RP1):c.495G>T (p.Lys165Asn)
|
rs1186642498
|
|
NM_006269.2(RP1):c.498G>A (p.Thr166=)
|
rs267601947
|
|
NM_006269.2(RP1):c.506C>A (p.Ala169Glu)
|
rs747000732
|
|
NM_006269.2(RP1):c.513del (p.Leu171_Leu172insTer)
|
rs2129314450
|
|
NM_006269.2(RP1):c.515T>C (p.Leu172Pro)
|
|
|
NM_006269.2(RP1):c.529A>G (p.Thr177Ala)
|
rs1805874590
|
|
NM_006269.2(RP1):c.531C>A (p.Thr177=)
|
rs774495291
|
|
NM_006269.2(RP1):c.532C>T (p.Gln178Ter)
|
rs2129314462
|
|
NM_006269.2(RP1):c.542A>G (p.Glu181Gly)
|
|
|
NM_006269.2(RP1):c.546A>G (p.Ala182=)
|
rs1805875705
|
|
NM_006269.2(RP1):c.557A>C (p.His186Pro)
|
|
|
NM_006269.2(RP1):c.559C>T (p.Leu187=)
|
rs1194758104
|
|
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.584T>C (p.Val195Ala)
|
|
|
NM_006269.2(RP1):c.597C>G (p.Tyr199Ter)
|
rs748104371
|
|
NM_006269.2(RP1):c.597C>T (p.Tyr199=)
|
|
|
NM_006269.2(RP1):c.600T>C (p.Ala200=)
|
|
|
NM_006269.2(RP1):c.606C>A (p.Asp202Glu)
|
rs1805879513
|
|
NM_006269.2(RP1):c.606C>T (p.Asp202=)
|
rs1805879513
|
|
NM_006269.2(RP1):c.6091_6092delinsTA (p.Arg2031Ter)
|
rs1806205612
|
|
NM_006269.2(RP1):c.6095T>A (p.Phe2032Tyr)
|
rs1806205897
|
|
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)
|
rs61739567
|
|
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.6122dup (p.Leu2041fs)
|
|
|
NM_006269.2(RP1):c.6125T>C (p.Leu2042Ser)
|
rs1806207230
|
|
NM_006269.2(RP1):c.6125del (p.Leu2041_Leu2042insTer)
|
rs1806207146
|
|
NM_006269.2(RP1):c.6138T>C (p.Asn2046=)
|
|
|
NM_006269.2(RP1):c.6146C>A (p.Ser2049Ter)
|
rs2129318565
|
|
NM_006269.2(RP1):c.6149A>G (p.Asn2050Ser)
|
rs1255944226
|
|
NM_006269.2(RP1):c.615+18T>C
|
|
|
NM_006269.2(RP1):c.615+20C>T
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NM_006269.2(RP1):c.615+3G>T
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rs199632605
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NM_006269.2(RP1):c.615+7G>A
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NM_006269.2(RP1):c.6154C>T (p.Gln2052Ter)
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rs2129318575
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NM_006269.2(RP1):c.616-15T>C
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NM_006269.2(RP1):c.616-17A>G
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NM_006269.2(RP1):c.616-20A>G
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NM_006269.2(RP1):c.616-9C>A
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rs2129314727
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NM_006269.2(RP1):c.6164G>C (p.Ser2055Thr)
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NM_006269.2(RP1):c.6166G>A (p.Gly2056Ser)
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NM_006269.2(RP1):c.616G>A (p.Val206Ile)
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NM_006269.2(RP1):c.6173C>T (p.Thr2058Ile)
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rs2129318587
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NM_006269.2(RP1):c.6181del (p.Ile2061fs)
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rs775367880
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NM_006269.2(RP1):c.6182del (p.Ile2061fs)
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NM_006269.2(RP1):c.6190G>T (p.Ala2064Ser)
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NM_006269.2(RP1):c.6195C>T (p.Val2065=)
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rs576244844
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NM_006269.2(RP1):c.6198_6200del (p.Asp2066del)
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rs1806210601
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NM_006269.2(RP1):c.6207C>T (p.Asn2069=)
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NM_006269.2(RP1):c.6273C>A (p.Ile2091=)
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rs1585569792
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NM_006269.2(RP1):c.6278_6279delinsTC (p.Cys2093Phe)
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NM_006269.2(RP1):c.6279T>C (p.Cys2093=)
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rs113609041
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NM_006269.2(RP1):c.6295A>G (p.Met2099Val)
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NM_006269.2(RP1):c.6298C>T (p.Leu2100Phe)
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rs763216053
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NM_006269.2(RP1):c.629dup (p.Ala211fs)
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NM_006269.2(RP1):c.6302G>A (p.Gly2101Asp)
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NM_006269.2(RP1):c.6302G>T (p.Gly2101Val)
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NM_006269.2(RP1):c.6304C>A (p.Gln2102Lys)
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NM_006269.2(RP1):c.6307G>T (p.Ala2103Ser)
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NM_006269.2(RP1):c.6313C>G (p.Leu2105Val)
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rs1806215456
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NM_006269.2(RP1):c.6327C>A (p.Cys2109Ter)
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rs1371811798
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NM_006269.2(RP1):c.6338CCT[1] (p.Ser2114del)
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rs749093680
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NM_006269.2(RP1):c.6342C>A (p.Ser2114=)
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rs2129318667
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NM_006269.2(RP1):c.6349A>G (p.Ile2117Val)
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rs1806216538
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NM_006269.2(RP1):c.6359G>T (p.Arg2120Ile)
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NM_006269.2(RP1):c.6362A>G (p.Asn2121Ser)
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rs2129318678
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NM_006269.2(RP1):c.6373C>T (p.Leu2125Phe)
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rs2129318689
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NM_006269.2(RP1):c.6379A>C (p.Met2127Leu)
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NM_006269.2(RP1):c.6379_6380dup (p.Met2127fs)
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rs2129318694
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NM_006269.2(RP1):c.6385G>C (p.Glu2129Gln)
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NM_006269.2(RP1):c.6389G>C (p.Gly2130Ala)
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NM_006269.2(RP1):c.6405T>A (p.Ile2135=)
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NM_006269.2(RP1):c.6407G>T (p.Trp2136Leu)
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rs1806218567
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NM_006269.2(RP1):c.6412G>T (p.Glu2138Ter)
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NM_006269.2(RP1):c.6414G>A (p.Glu2138=)
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rs2129318722
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NM_006269.2(RP1):c.6421A>G (p.Ile2141Val)
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rs907744519
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NM_006269.2(RP1):c.6423dup (p.Leu2142fs)
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rs1563333973
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NM_006269.2(RP1):c.6424T>C (p.Leu2142=)
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rs2129318727
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NM_006269.2(RP1):c.6428del (p.Asn2143fs)
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NM_006269.2(RP1):c.6461A>G (p.Glu2154Gly)
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rs973168352
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NM_006269.2(RP1):c.6464A>T (p.Asp2155Val)
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NM_006269.2(RP1):c.659T>G (p.Val220Gly)
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rs2129314757
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NM_006269.2(RP1):c.663G>A (p.Ala221=)
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NM_006269.2(RP1):c.664G>A (p.Ala222Thr)
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NM_006269.2(RP1):c.668del (p.Gly223fs)
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rs1231321479
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NM_006269.2(RP1):c.67C>T (p.Pro23Ser)
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NM_006269.2(RP1):c.683A>T (p.Lys228Ile)
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rs1805901267
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NM_006269.2(RP1):c.686del (p.Pro229fs)
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NM_006269.2(RP1):c.696T>G (p.Tyr232Ter)
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rs1165961011
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NM_006269.2(RP1):c.69C>T (p.Pro23=)
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NM_006269.2(RP1):c.704A>G (p.Gln235Arg)
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NM_006269.2(RP1):c.711C>T (p.Tyr237=)
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rs751781610
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NM_006269.2(RP1):c.719C>T (p.Pro240Leu)
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NM_006269.2(RP1):c.71C>G (p.Pro24Arg)
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rs2129314077
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NM_006269.2(RP1):c.71C>T (p.Pro24Leu)
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NM_006269.2(RP1):c.71dup (p.Arg25fs)
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NM_006269.2(RP1):c.731C>G (p.Pro244Arg)
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NM_006269.2(RP1):c.736A>T (p.Ile246Phe)
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rs550073225
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NM_006269.2(RP1):c.740C>T (p.Ser247Phe)
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rs2129314793
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NM_006269.2(RP1):c.742C>T (p.Gln248Ter)
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rs769156393
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NM_006269.2(RP1):c.746G>A (p.Arg249His)
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NM_006269.2(RP1):c.746G>C (p.Arg249Pro)
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rs373574136
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NM_006269.2(RP1):c.746G>T (p.Arg249Leu)
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rs373574136
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NM_006269.2(RP1):c.761G>T (p.Gly254Val)
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NM_006269.2(RP1):c.786G>A (p.Lys262=)
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rs113763758
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NM_006269.2(RP1):c.787+13_787+15del
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rs1805904144
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NM_006269.2(RP1):c.787+20A>G
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rs2129314827
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NM_006269.2(RP1):c.787+4A>C
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NM_006269.2(RP1):c.787+5G>A
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NM_006269.2(RP1):c.787+7C>A
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NM_006269.2(RP1):c.788-1G>A
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NM_006269.2(RP1):c.788-2_790del
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rs779627969
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NM_006269.2(RP1):c.799_800del (p.Met267fs)
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rs1805978316
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NM_006269.2(RP1):c.830C>G (p.Ser277Cys)
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rs267601949
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NM_006269.2(RP1):c.830C>T (p.Ser277Phe)
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rs267601949
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NM_006269.2(RP1):c.830_831del (p.Ser277fs)
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rs1585561400
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NM_006269.2(RP1):c.836C>T (p.Ser279Phe)
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rs375744003
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NM_006269.2(RP1):c.864C>G (p.Cys288Trp)
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rs1805980371
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NM_006269.2(RP1):c.872A>G (p.Asp291Gly)
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NM_006269.2(RP1):c.879T>A (p.Ser293=)
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NM_006269.2(RP1):c.886C>G (p.Pro296Ala)
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NM_006269.2(RP1):c.951T>A (p.Asp317Glu)
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rs1805982801
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NM_006269.2(RP1):c.968T>C (p.Ile323Thr)
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NM_006269.2(RP1):c.970A>G (p.Ile324Val)
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NM_006269.2(RP1):c.972T>C (p.Ile324=)
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rs1328526581
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NM_006269.2(RP1):c.981A>G (p.Gln327=)
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rs1442014451
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NM_006269.2(RP1):c.986G>T (p.Gly329Val)
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rs1229278794
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Single allele
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