NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr)
|
rs376071070
|
0.00016
|
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp)
|
rs794729160
|
0.00010
|
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn)
|
rs541330074
|
0.00008
|
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser)
|
rs374611807
|
0.00006
|
NM_001134363.3(RBM20):c.2688G>T (p.Glu896Asp)
|
rs950962230
|
0.00004
|
NM_001134363.3(RBM20):c.1429G>T (p.Asp477Tyr)
|
rs1004982001
|
0.00003
|
NM_001134363.3(RBM20):c.1920C>A (p.Ser640Arg)
|
rs1439106449
|
0.00003
|
NM_001134363.3(RBM20):c.1934C>T (p.Pro645Leu)
|
rs776297244
|
0.00003
|
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro)
|
rs886038858
|
0.00003
|
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu)
|
rs1241224023
|
0.00003
|
NM_001134363.3(RBM20):c.408A>G (p.Gln136=)
|
rs770818336
|
0.00003
|
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser)
|
rs1041725339
|
0.00003
|
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn)
|
rs950210735
|
0.00002
|
NM_001134363.3(RBM20):c.1338-1G>T
|
rs1265727354
|
0.00002
|
NM_001134363.3(RBM20):c.2572G>A (p.Gly858Ser)
|
rs1361625543
|
0.00002
|
NM_001134363.3(RBM20):c.2599G>A (p.Gly867Ser)
|
rs1218437735
|
0.00002
|
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met)
|
rs947100716
|
0.00002
|
NM_001134363.3(RBM20):c.2815G>A (p.Asp939Asn)
|
rs1442138837
|
0.00002
|
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu)
|
rs977645949
|
0.00002
|
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala)
|
rs996172004
|
0.00002
|
NM_001134363.3(RBM20):c.710G>T (p.Gly237Val)
|
rs761557813
|
0.00002
|
NM_001134363.3(RBM20):c.832T>C (p.Phe278Leu)
|
rs1014048064
|
0.00002
|
NM_001134363.3(RBM20):c.1004C>T (p.Ala335Val)
|
rs765185397
|
0.00001
|
NM_001134363.3(RBM20):c.1063C>T (p.Pro355Ser)
|
rs998547889
|
0.00001
|
NM_001134363.3(RBM20):c.1136G>A (p.Gly379Glu)
|
rs577020509
|
0.00001
|
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr)
|
rs886046703
|
0.00001
|
NM_001134363.3(RBM20):c.1160C>T (p.Ala387Val)
|
rs919432113
|
0.00001
|
NM_001134363.3(RBM20):c.1265T>C (p.Phe422Ser)
|
rs932538273
|
0.00001
|
NM_001134363.3(RBM20):c.1276-8T>A
|
rs886046704
|
0.00001
|
NM_001134363.3(RBM20):c.1279T>C (p.Trp427Arg)
|
rs1844378725
|
0.00001
|
NM_001134363.3(RBM20):c.1329_1331del (p.Ser444del)
|
rs1229525146
|
0.00001
|
NM_001134363.3(RBM20):c.1348C>T (p.Arg450Trp)
|
rs886039129
|
0.00001
|
NM_001134363.3(RBM20):c.134C>T (p.Pro45Leu)
|
rs1036333804
|
0.00001
|
NM_001134363.3(RBM20):c.1384G>A (p.Ala462Thr)
|
rs1285889652
|
0.00001
|
NM_001134363.3(RBM20):c.1429+1G>A
|
rs1193393493
|
0.00001
|
NM_001134363.3(RBM20):c.1454C>T (p.Ser485Leu)
|
rs764016326
|
0.00001
|
NM_001134363.3(RBM20):c.1498A>T (p.Thr500Ser)
|
rs1452282601
|
0.00001
|
NM_001134363.3(RBM20):c.1517T>C (p.Val506Ala)
|
rs1590677685
|
0.00001
|
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys)
|
rs369835514
|
0.00001
|
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu)
|
rs993569055
|
0.00001
|
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr)
|
rs758772050
|
0.00001
|
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn)
|
rs1444950975
|
0.00001
|
NM_001134363.3(RBM20):c.1747G>A (p.Gly583Ser)
|
rs1209985002
|
0.00001
|
NM_001134363.3(RBM20):c.1880+6G>T
|
rs1210149101
|
0.00001
|
NM_001134363.3(RBM20):c.1881-1G>C
|
rs1424661837
|
0.00001
|
NM_001134363.3(RBM20):c.1881A>G (p.Arg627=)
|
rs1482868696
|
0.00001
|
NM_001134363.3(RBM20):c.1894A>G (p.Arg632Gly)
|
rs1470779057
|
0.00001
|
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser)
|
rs767451635
|
0.00001
|
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu)
|
rs747880281
|
0.00001
|
NM_001134363.3(RBM20):c.1908T>C (p.Arg636=)
|
rs1428731969
|
0.00001
|
NM_001134363.3(RBM20):c.1949C>T (p.Pro650Leu)
|
rs899383029
|
0.00001
|
NM_001134363.3(RBM20):c.196G>A (p.Ala66Thr)
|
rs1051972948
|
0.00001
|
NM_001134363.3(RBM20):c.1982C>G (p.Pro661Arg)
|
rs1251592783
|
0.00001
|
NM_001134363.3(RBM20):c.1990C>T (p.Pro664Ser)
|
rs1279998131
|
0.00001
|
NM_001134363.3(RBM20):c.2038C>T (p.Pro680Ser)
|
rs1387833836
|
0.00001
|
NM_001134363.3(RBM20):c.2072C>T (p.Ala691Val)
|
rs1293517489
|
0.00001
|
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys)
|
rs397516600
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001134363.3(RBM20):c.2183A>G (p.Glu728Gly)
|
rs1161452943
|
0.00001
|
NM_001134363.3(RBM20):c.2193G>C (p.Arg731Ser)
|
rs1475940613
|
0.00001
|
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro)
|
rs1361123068
|
0.00001
|
NM_001134363.3(RBM20):c.2347A>G (p.Arg783Gly)
|
rs1287523613
|
0.00001
|
NM_001134363.3(RBM20):c.2351G>T (p.Arg784Met)
|
rs1359372013
|
0.00001
|
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser)
|
rs999008497
|
0.00001
|
NM_001134363.3(RBM20):c.2476A>C (p.Asn826His)
|
rs1844793217
|
0.00001
|
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly)
|
rs371116877
|
0.00001
|
NM_001134363.3(RBM20):c.2565A>C (p.Glu855Asp)
|
rs878854250
|
0.00001
|
NM_001134363.3(RBM20):c.2567A>C (p.Gln856Pro)
|
rs1442388691
|
0.00001
|
NM_001134363.3(RBM20):c.2676A>C (p.Glu892Asp)
|
rs1447611071
|
0.00001
|
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys)
|
rs112880805
|
0.00001
|
NM_001134363.3(RBM20):c.275C>T (p.Ala92Val)
|
rs1344144278
|
0.00001
|
NM_001134363.3(RBM20):c.287C>T (p.Ala96Val)
|
rs1195345503
|
0.00001
|
NM_001134363.3(RBM20):c.2942C>T (p.Pro981Leu)
|
rs1460424271
|
0.00001
|
NM_001134363.3(RBM20):c.2960C>T (p.Ala987Val)
|
rs1844910564
|
0.00001
|
NM_001134363.3(RBM20):c.299T>G (p.Leu100Arg)
|
rs1060503417
|
0.00001
|
NM_001134363.3(RBM20):c.3025A>G (p.Lys1009Glu)
|
rs1344905271
|
0.00001
|
NM_001134363.3(RBM20):c.303C>A (p.His101Gln)
|
rs1172371194
|
0.00001
|
NM_001134363.3(RBM20):c.3040G>T (p.Glu1014Ter)
|
rs1220240959
|
0.00001
|
NM_001134363.3(RBM20):c.3097G>A (p.Glu1033Lys)
|
rs1564664608
|
0.00001
|
NM_001134363.3(RBM20):c.3119C>G (p.Ala1040Gly)
|
rs878854251
|
0.00001
|
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr)
|
rs890053031
|
0.00001
|
NM_001134363.3(RBM20):c.3167C>T (p.Ala1056Val)
|
rs947120934
|
0.00001
|
NM_001134363.3(RBM20):c.3198C>T (p.Cys1066=)
|
rs1844916348
|
0.00001
|
NM_001134363.3(RBM20):c.3205del (p.Arg1069fs)
|
rs1844916553
|
0.00001
|
NM_001134363.3(RBM20):c.3315G>A (p.Pro1105=)
|
rs772179438
|
0.00001
|
NM_001134363.3(RBM20):c.3440G>C (p.Ser1147Thr)
|
rs542392971
|
0.00001
|
NM_001134363.3(RBM20):c.3452G>A (p.Gly1151Glu)
|
rs1185476843
|
0.00001
|
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala)
|
rs1185476843
|
0.00001
|
NM_001134363.3(RBM20):c.3494T>C (p.Leu1165Pro)
|
rs1341670588
|
0.00001
|
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val)
|
rs371754487
|
0.00001
|
NM_001134363.3(RBM20):c.352A>G (p.Thr118Ala)
|
rs878854253
|
0.00001
|
NM_001134363.3(RBM20):c.3571C>A (p.Gln1191Lys)
|
rs1338307495
|
0.00001
|
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys)
|
rs535839168
|
0.00001
|
NM_001134363.3(RBM20):c.359del (p.Leu120fs)
|
rs1173576141
|
0.00001
|
NM_001134363.3(RBM20):c.3677A>G (p.Lys1226Arg)
|
rs1057524087
|
0.00001
|
NM_001134363.3(RBM20):c.397C>G (p.Leu133Val)
|
rs1446238793
|
0.00001
|
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser)
|
rs1460527562
|
0.00001
|
NM_001134363.3(RBM20):c.413G>C (p.Arg138Thr)
|
rs1387283537
|
0.00001
|
NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr)
|
rs1416612925
|
0.00001
|
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp)
|
rs1060503413
|
0.00001
|
NM_001134363.3(RBM20):c.485C>T (p.Thr162Ile)
|
rs1214311876
|
0.00001
|
NM_001134363.3(RBM20):c.542G>A (p.Gly181Glu)
|
rs1371208217
|
0.00001
|
NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu)
|
rs1321284191
|
0.00001
|
NM_001134363.3(RBM20):c.629C>T (p.Pro210Leu)
|
rs1564843906
|
0.00001
|
NM_001134363.3(RBM20):c.650G>T (p.Gly217Val)
|
rs1189201346
|
0.00001
|
NM_001134363.3(RBM20):c.658G>A (p.Gly220Arg)
|
rs1844340919
|
0.00001
|
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile)
|
rs794729140
|
0.00001
|
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr)
|
rs1033220280
|
0.00001
|
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys)
|
rs1478721868
|
0.00001
|
NM_001134363.3(RBM20):c.691T>A (p.Tyr231Asn)
|
rs1564843957
|
0.00001
|
NM_001134363.3(RBM20):c.793G>A (p.Gly265Arg)
|
rs1237864932
|
0.00001
|
NM_001134363.3(RBM20):c.856A>G (p.Asn286Asp)
|
rs1324823773
|
0.00001
|
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys)
|
rs1339836806
|
0.00001
|
NM_001134363.3(RBM20):c.967C>A (p.His323Asn)
|
rs868524421
|
0.00001
|
NC_000010.10:g.(?_112540539)_(112583392_?)del
|
|
|
NC_000010.10:g.(?_112579810)_(112595756_?)dup
|
|
|
NC_000010.11:g.(?_110820062)_(110835988_?)del
|
|
|
NM_001134363.3(RBM20):c.1001C>T (p.Thr334Ile)
|
|
|
NM_001134363.3(RBM20):c.1004C>G (p.Ala335Gly)
|
|
|
NM_001134363.3(RBM20):c.1007G>A (p.Gly336Asp)
|
|
|
NM_001134363.3(RBM20):c.1012A>G (p.Met338Val)
|
|
|
NM_001134363.3(RBM20):c.1021C>G (p.Pro341Ala)
|
|
|
NM_001134363.3(RBM20):c.104C>G (p.Pro35Arg)
|
rs2134792790
|
|
NM_001134363.3(RBM20):c.1053C>A (p.Asp351Glu)
|
rs192232825
|
|
NM_001134363.3(RBM20):c.1072G>A (p.Asp358Asn)
|
|
|
NM_001134363.3(RBM20):c.1075_1076del (p.Arg359fs)
|
|
|
NM_001134363.3(RBM20):c.1079C>T (p.Thr360Ile)
|
rs1477743309
|
|
NM_001134363.3(RBM20):c.1092C>A (p.Phe364Leu)
|
|
|
NM_001134363.3(RBM20):c.1097G>A (p.Gly366Asp)
|
rs1201270166
|
|
NM_001134363.3(RBM20):c.1097G>T (p.Gly366Val)
|
|
|
NM_001134363.3(RBM20):c.1112G>T (p.Ser371Ile)
|
rs2135044522
|
|
NM_001134363.3(RBM20):c.1130G>A (p.Gly377Asp)
|
rs1844353297
|
|
NM_001134363.3(RBM20):c.1148A>C (p.Lys383Thr)
|
|
|
NM_001134363.3(RBM20):c.1156C>A (p.Gln386Lys)
|
|
|
NM_001134363.3(RBM20):c.1156C>G (p.Gln386Glu)
|
|
|
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter)
|
rs794729143
|
|
NM_001134363.3(RBM20):c.115C>T (p.Arg39Ter)
|
rs1281593181
|
|
NM_001134363.3(RBM20):c.1164G>C (p.Leu388Phe)
|
rs1844354317
|
|
NM_001134363.3(RBM20):c.1172T>G (p.Val391Gly)
|
rs567118667
|
|
NM_001134363.3(RBM20):c.1174C>G (p.Arg392Gly)
|
|
|
NM_001134363.3(RBM20):c.1175G>C (p.Arg392Pro)
|
rs751788298
|
|
NM_001134363.3(RBM20):c.1177C>G (p.Pro393Ala)
|
rs563411472
|
|
NM_001134363.3(RBM20):c.1189C>T (p.His397Tyr)
|
rs2135044870
|
|
NM_001134363.3(RBM20):c.118G>C (p.Gly40Arg)
|
rs1861839858
|
|
NM_001134363.3(RBM20):c.1196T>C (p.Leu399Pro)
|
rs916046415
|
|
NM_001134363.3(RBM20):c.119G>C (p.Gly40Ala)
|
rs2134792879
|
|
NM_001134363.3(RBM20):c.1206dup (p.His403fs)
|
rs1844355459
|
|
NM_001134363.3(RBM20):c.120G>T (p.Gly40=)
|
|
|
NM_001134363.3(RBM20):c.1210G>T (p.Gly404Cys)
|
rs530925237
|
|
NM_001134363.3(RBM20):c.1217C>T (p.Ala406Val)
|
|
|
NM_001134363.3(RBM20):c.121A>T (p.Met41Leu)
|
|
|
NM_001134363.3(RBM20):c.1222del (p.Leu408fs)
|
rs1564844428
|
|
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs)
|
rs1564844428
|
|
NM_001134363.3(RBM20):c.1223T>C (p.Leu408Pro)
|
|
|
NM_001134363.3(RBM20):c.1225C>T (p.His409Tyr)
|
|
|
NM_001134363.3(RBM20):c.1234C>A (p.His412Asn)
|
rs2135045176
|
|
NM_001134363.3(RBM20):c.1242T>C (p.Cys414=)
|
rs1844356957
|
|
NM_001134363.3(RBM20):c.1245C>G (p.Ser415Arg)
|
rs1481843626
|
|
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr)
|
rs1060503412
|
|
NM_001134363.3(RBM20):c.125A>G (p.Gln42Arg)
|
rs1861840028
|
|
NM_001134363.3(RBM20):c.1271T>C (p.Leu424Ser)
|
|
|
NM_001134363.3(RBM20):c.1275+6T>C
|
|
|
NM_001134363.3(RBM20):c.1276-3T>C
|
|
|
NM_001134363.3(RBM20):c.1277A>T (p.Asp426Val)
|
|
|
NM_001134363.3(RBM20):c.127C>T (p.Gln43Ter)
|
|
|
NM_001134363.3(RBM20):c.1280G>A (p.Trp427Ter)
|
|
|
NM_001134363.3(RBM20):c.1289A>C (p.His430Pro)
|
|
|
NM_001134363.3(RBM20):c.1289A>G (p.His430Arg)
|
rs2135048055
|
|
NM_001134363.3(RBM20):c.1292_1293del (p.Val431fs)
|
|
|
NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del)
|
rs756342135
|
|
NM_001134363.3(RBM20):c.129GCC[6] (p.Pro48dup)
|
rs756342135
|
|
NM_001134363.3(RBM20):c.1301A>G (p.Lys434Arg)
|
|
|
NM_001134363.3(RBM20):c.130C>A (p.Pro44Thr)
|
|
|
NM_001134363.3(RBM20):c.1316A>T (p.Lys439Ile)
|
rs2135048113
|
|
NM_001134363.3(RBM20):c.131C>G (p.Pro44Arg)
|
|
|
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3])
|
rs1204097562
|
|
NM_001134363.3(RBM20):c.132_155dup (p.Pro47_Pro54dup)
|
rs1861840424
|
|
NM_001134363.3(RBM20):c.1337+5G>A
|
rs1844379788
|
|
NM_001134363.3(RBM20):c.1339G>A (p.Ala447Thr)
|
|
|
NM_001134363.3(RBM20):c.1340C>T (p.Ala447Val)
|
|
|
NM_001134363.3(RBM20):c.1345A>G (p.Ile449Val)
|
rs1564845257
|
|
NM_001134363.3(RBM20):c.134C>G (p.Pro45Arg)
|
|
|
NM_001134363.3(RBM20):c.1351T>C (p.Cys451Arg)
|
rs2135049976
|
|
NM_001134363.3(RBM20):c.1352G>A (p.Cys451Tyr)
|
rs1844393396
|
|
NM_001134363.3(RBM20):c.1367C>T (p.Ala456Val)
|
|
|
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser)
|
rs1554886574
|
|
NM_001134363.3(RBM20):c.137C>A (p.Pro46Gln)
|
|
|
NM_001134363.3(RBM20):c.137_145dup (p.Pro48_Gln49insProProPro)
|
|
|
NM_001134363.3(RBM20):c.138_149dup (p.Gln49_Pro52dup)
|
rs878854248
|
|
NM_001134363.3(RBM20):c.1400C>T (p.Thr467Ile)
|
|
|
NM_001134363.3(RBM20):c.1401del (p.Ala468fs)
|
|
|
NM_001134363.3(RBM20):c.1402G>C (p.Ala468Pro)
|
|
|
NM_001134363.3(RBM20):c.1409A>G (p.Tyr470Cys)
|
|
|
NM_001134363.3(RBM20):c.140_145dup (p.Pro48_Gln49insProPro)
|
|
|
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del)
|
rs1286990478
|
|
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup)
|
rs1286990478
|
|
NM_001134363.3(RBM20):c.1429+6C>G
|
rs2135050268
|
|
NM_001134363.3(RBM20):c.1444C>T (p.Leu482Phe)
|
rs752506719
|
|
NM_001134363.3(RBM20):c.1448G>A (p.Gly483Glu)
|
rs2135050974
|
|
NM_001134363.3(RBM20):c.1472C>T (p.Ala491Val)
|
rs1844400398
|
|
NM_001134363.3(RBM20):c.147_164del (p.44PPPPPQ[1])
|
rs1273274801
|
|
NM_001134363.3(RBM20):c.1490C>A (p.Ser497Ter)
|
|
|
NM_001134363.3(RBM20):c.1502T>G (p.Phe501Cys)
|
|
|
NM_001134363.3(RBM20):c.1504C>G (p.Pro502Ala)
|
|
|
NM_001134363.3(RBM20):c.1511C>T (p.Ala504Val)
|
rs878854249
|
|
NM_001134363.3(RBM20):c.151C>T (p.Pro51Ser)
|
rs1861841530
|
|
NM_001134363.3(RBM20):c.1525A>G (p.Thr509Ala)
|
rs1844401481
|
|
NM_001134363.3(RBM20):c.1526C>G (p.Thr509Ser)
|
|
|
NM_001134363.3(RBM20):c.1528-1G>C
|
rs534513476
|
|
NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup)
|
rs1554886580
|
|
NM_001134363.3(RBM20):c.1531G>T (p.Ala511Ser)
|
|
|
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg)
|
rs1235212712
|
|
NM_001134363.3(RBM20):c.1558G>A (p.Val520Met)
|
rs1844567016
|
|
NM_001134363.3(RBM20):c.155C>T (p.Pro52Leu)
|
|
|
NM_001134363.3(RBM20):c.1571A>G (p.Asn524Ser)
|
|
|
NM_001134363.3(RBM20):c.1590C>A (p.Cys530Ter)
|
rs2135073795
|
|
NM_001134363.3(RBM20):c.1596G>T (p.Glu532Asp)
|
|
|
NM_001134363.3(RBM20):c.1598A>G (p.Asn533Ser)
|
rs1309738508
|
|
NM_001134363.3(RBM20):c.1603G>C (p.Val535Leu)
|
|
|
NM_001134363.3(RBM20):c.1610A>G (p.Asn537Ser)
|
|
|
NM_001134363.3(RBM20):c.1632G>T (p.Lys544Asn)
|
|
|
NM_001134363.3(RBM20):c.1643A>G (p.Tyr548Cys)
|
rs1844568332
|
|
NM_001134363.3(RBM20):c.1653G>A (p.Met551Ile)
|
rs1844568460
|
|
NM_001134363.3(RBM20):c.1669-3T>G
|
|
|
NM_001134363.3(RBM20):c.1669G>A (p.Ala557Thr)
|
|
|
NM_001134363.3(RBM20):c.1670C>A (p.Ala557Asp)
|
rs1554901109
|
|
NM_001134363.3(RBM20):c.1682T>C (p.Met561Thr)
|
rs999297099
|
|
NM_001134363.3(RBM20):c.1691C>T (p.Thr564Ile)
|
rs1844598194
|
|
NM_001134363.3(RBM20):c.1699G>A (p.Ala567Thr)
|
rs1844598396
|
|
NM_001134363.3(RBM20):c.170G>A (p.Gly57Asp)
|
|
|
NM_001134363.3(RBM20):c.1711G>T (p.Val571Phe)
|
|
|
NM_001134363.3(RBM20):c.1723C>T (p.Gln575Ter)
|
|
|
NM_001134363.3(RBM20):c.1728A>C (p.Glu576Asp)
|
|
|
NM_001134363.3(RBM20):c.1733C>G (p.Ser578Cys)
|
rs1844599391
|
|
NM_001134363.3(RBM20):c.1735G>T (p.Ala579Ser)
|
|
|
NM_001134363.3(RBM20):c.1745A>G (p.Asn582Ser)
|
rs890837429
|
|
NM_001134363.3(RBM20):c.1745A>T (p.Asn582Ile)
|
|
|
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys)
|
rs794729147
|
|
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg)
|
rs794729147
|
|
NM_001134363.3(RBM20):c.1775A>G (p.Lys592Arg)
|
rs1844600546
|
|
NM_001134363.3(RBM20):c.1787A>C (p.Glu596Ala)
|
rs1554901133
|
|
NM_001134363.3(RBM20):c.1792C>T (p.Gln598Ter)
|
|
|
NM_001134363.3(RBM20):c.1800+1G>A
|
rs1060503414
|
|
NM_001134363.3(RBM20):c.1800+4A>G
|
rs1564850178
|
|
NM_001134363.3(RBM20):c.1805C>A (p.Pro602His)
|
|
|
NM_001134363.3(RBM20):c.1813G>A (p.Ala605Thr)
|
rs1342793239
|
|
NM_001134363.3(RBM20):c.181A>G (p.Ile61Val)
|
|
|
NM_001134363.3(RBM20):c.1823C>T (p.Ala608Val)
|
rs1844749476
|
|
NM_001134363.3(RBM20):c.1825A>G (p.Ile609Val)
|
|
|
NM_001134363.3(RBM20):c.1834G>A (p.Asp612Asn)
|
|
|
NM_001134363.3(RBM20):c.184A>G (p.Ile62Val)
|
|
|
NM_001134363.3(RBM20):c.1850G>A (p.Arg617Lys)
|
rs1844749902
|
|
NM_001134363.3(RBM20):c.1851G>C (p.Arg617Ser)
|
rs1844749960
|
|
NM_001134363.3(RBM20):c.1855A>T (p.Arg619Trp)
|
|
|
NM_001134363.3(RBM20):c.1857G>T (p.Arg619Ser)
|
rs1844750147
|
|
NM_001134363.3(RBM20):c.1879A>G (p.Arg627Gly)
|
|
|
NM_001134363.3(RBM20):c.1883A>G (p.Tyr628Cys)
|
rs2135103547
|
|
NM_001134363.3(RBM20):c.1886G>T (p.Gly629Val)
|
rs1844777305
|
|
NM_001134363.3(RBM20):c.188A>G (p.Gln63Arg)
|
rs1564804235
|
|
NM_001134363.3(RBM20):c.1900C>G (p.Arg634Gly)
|
|
|
NM_001134363.3(RBM20):c.1903T>C (p.Ser635Pro)
|
rs1844777857
|
|
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr)
|
rs1114167331
|
|
NM_001134363.3(RBM20):c.1904C>T (p.Ser635Phe)
|
|
|
NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del)
|
rs794729163
|
|
NM_001134363.3(RBM20):c.1911T>G (p.Ser637Arg)
|
|
|
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.1915G>A (p.Val639Met)
|
rs1844778442
|
|
NM_001134363.3(RBM20):c.191del (p.Asn64fs)
|
|
|
NM_001134363.3(RBM20):c.192-3C>T
|
|
|
NM_001134363.3(RBM20):c.1940C>T (p.Ser647Phe)
|
|
|
NM_001134363.3(RBM20):c.1944C>A (p.His648Gln)
|
rs1844779098
|
|
NM_001134363.3(RBM20):c.1946C>T (p.Thr649Ile)
|
|
|
NM_001134363.3(RBM20):c.1948C>T (p.Pro650Ser)
|
|
|
NM_001134363.3(RBM20):c.194C>G (p.Ala65Gly)
|
rs1255136385
|
|
NM_001134363.3(RBM20):c.194C>T (p.Ala65Val)
|
|
|
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=)
|
rs1554842673
|
|
NM_001134363.3(RBM20):c.1984C>G (p.Pro662Ala)
|
|
|
NM_001134363.3(RBM20):c.1990_2000del (p.Gly663_Pro664insTer)
|
rs2135103989
|
|
NM_001134363.3(RBM20):c.1994C>T (p.Ser665Phe)
|
|
|
NM_001134363.3(RBM20):c.1999G>A (p.Ala667Thr)
|
|
|
NM_001134363.3(RBM20):c.2009G>A (p.Gly670Asp)
|
rs2135104151
|
|
NM_001134363.3(RBM20):c.2019G>T (p.Arg673=)
|
rs1844781108
|
|
NM_001134363.3(RBM20):c.2024C>T (p.Ser675Phe)
|
rs1844781292
|
|
NM_001134363.3(RBM20):c.2041T>C (p.Tyr681His)
|
rs1257262328
|
|
NM_001134363.3(RBM20):c.2042del (p.Tyr681fs)
|
|
|
NM_001134363.3(RBM20):c.2043T>A (p.Tyr681Ter)
|
rs376380567
|
|
NM_001134363.3(RBM20):c.2045C>G (p.Ala682Gly)
|
|
|
NM_001134363.3(RBM20):c.2047A>G (p.Arg683Gly)
|
|
|
NM_001134363.3(RBM20):c.2060del (p.Glu687fs)
|
|
|
NM_001134363.3(RBM20):c.2065G>A (p.Asp689Asn)
|
rs1590695932
|
|
NM_001134363.3(RBM20):c.2067C>A (p.Asp689Glu)
|
|
|
NM_001134363.3(RBM20):c.2071G>T (p.Ala691Ser)
|
rs1844782261
|
|
NM_001134363.3(RBM20):c.2084A>G (p.Asp695Gly)
|
rs1036736581
|
|
NM_001134363.3(RBM20):c.2086A>G (p.Asn696Asp)
|
rs1338107542
|
|
NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser)
|
rs1844782473
|
|
NM_001134363.3(RBM20):c.2106C>G (p.Asp702Glu)
|
|
|
NM_001134363.3(RBM20):c.2109G>C (p.Arg703Ser)
|
rs988797559
|
|
NM_001134363.3(RBM20):c.2113G>A (p.Asp705Asn)
|
rs995493100
|
|
NM_001134363.3(RBM20):c.2119T>A (p.Trp707Arg)
|
rs1554842725
|
|
NM_001134363.3(RBM20):c.2119T>C (p.Trp707Arg)
|
|
|
NM_001134363.3(RBM20):c.2126A>G (p.His709Arg)
|
|
|
NM_001134363.3(RBM20):c.2131C>G (p.Arg711Gly)
|
rs750763255
|
|
NM_001134363.3(RBM20):c.2132G>A (p.Arg711His)
|
rs1448017649
|
|
NM_001134363.3(RBM20):c.2132G>C (p.Arg711Pro)
|
rs1448017649
|
|
NM_001134363.3(RBM20):c.2140C>T (p.His714Tyr)
|
rs1844784087
|
|
NM_001134363.3(RBM20):c.2142C>A (p.His714Gln)
|
|
|
NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile)
|
rs1372553161
|
|
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr)
|
rs876657976
|
|
NM_001134363.3(RBM20):c.2176C>G (p.Arg726Gly)
|
|
|
NM_001134363.3(RBM20):c.2177G>A (p.Arg726Gln)
|
rs756116415
|
|
NM_001134363.3(RBM20):c.2182G>A (p.Glu728Lys)
|
|
|
NM_001134363.3(RBM20):c.2182G>T (p.Glu728Ter)
|
rs1844785287
|
|
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del)
|
rs876657977
|
|
NM_001134363.3(RBM20):c.2188G>A (p.Gly730Arg)
|
|
|
NM_001134363.3(RBM20):c.2188G>C (p.Gly730Arg)
|
rs1844785438
|
|
NM_001134363.3(RBM20):c.2201G>C (p.Arg734Pro)
|
rs372923744
|
|
NM_001134363.3(RBM20):c.2207A>C (p.Lys736Thr)
|
|
|
NM_001134363.3(RBM20):c.2213C>G (p.Pro738Arg)
|
rs397516601
|
|
NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe)
|
rs730880183
|
|
NM_001134363.3(RBM20):c.2242T>C (p.Ser748Pro)
|
rs2135105234
|
|
NM_001134363.3(RBM20):c.2280_2282dup (p.Arg761dup)
|
rs1844787460
|
|
NM_001134363.3(RBM20):c.2284A>G (p.Lys762Glu)
|
|
|
NM_001134363.3(RBM20):c.2291C>A (p.Pro764His)
|
rs1036485472
|
|
NM_001134363.3(RBM20):c.2294A>C (p.Lys765Thr)
|
rs1395161859
|
|
NM_001134363.3(RBM20):c.2303C>A (p.Ser768Ter)
|
rs1417635
|
|
NM_001134363.3(RBM20):c.2306A>G (p.Asp769Gly)
|
|
|
NM_001134363.3(RBM20):c.2309A>G (p.Lys770Arg)
|
rs1244728107
|
|
NM_001134363.3(RBM20):c.2312A>G (p.Tyr771Cys)
|
rs2135105617
|
|
NM_001134363.3(RBM20):c.2315T>C (p.Leu772Pro)
|
|
|
NM_001134363.3(RBM20):c.2320CAG[2] (p.Gln776del)
|
|
|
NM_001134363.3(RBM20):c.2331T>G (p.Asp777Glu)
|
rs1428730678
|
|
NM_001134363.3(RBM20):c.2336C>T (p.Pro779Leu)
|
|
|
NM_001134363.3(RBM20):c.2338G>T (p.Gly780Trp)
|
rs750988872
|
|
NM_001134363.3(RBM20):c.2343del (p.Arg781fs)
|
rs1443137430
|
|
NM_001134363.3(RBM20):c.2350_2351delinsGT (p.Arg784Val)
|
rs1844789808
|
|
NM_001134363.3(RBM20):c.2358C>A (p.Asp786Glu)
|
rs1045844360
|
|
NM_001134363.3(RBM20):c.2360A>G (p.Glu787Gly)
|
rs1844790155
|
|
NM_001134363.3(RBM20):c.2361G>C (p.Glu787Asp)
|
|
|
NM_001134363.3(RBM20):c.2371C>G (p.Arg791Gly)
|
rs529403382
|
|
NM_001134363.3(RBM20):c.2372G>A (p.Arg791Gln)
|
|
|
NM_001134363.3(RBM20):c.2374G>A (p.Glu792Lys)
|
rs2135105925
|
|
NM_001134363.3(RBM20):c.2374dup (p.Glu792fs)
|
|
|
NM_001134363.3(RBM20):c.2378G>A (p.Ser793Asn)
|
|
|
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs)
|
rs1554898759
|
|
NM_001134363.3(RBM20):c.2383C>A (p.His795Asn)
|
rs2135105962
|
|
NM_001134363.3(RBM20):c.2388_2393dup (p.795_796HP[3])
|
rs1564661327
|
|
NM_001134363.3(RBM20):c.2396A>G (p.Asp799Gly)
|
|
|
NM_001134363.3(RBM20):c.2398G>A (p.Asp800Asn)
|
|
|
NM_001134363.3(RBM20):c.2414A>T (p.Asp805Val)
|
rs2135106050
|
|
NM_001134363.3(RBM20):c.2422G>T (p.Gly808Trp)
|
rs1844791428
|
|
NM_001134363.3(RBM20):c.2434A>C (p.Thr812Pro)
|
rs1564661367
|
|
NM_001134363.3(RBM20):c.2434A>T (p.Thr812Ser)
|
rs1564661367
|
|
NM_001134363.3(RBM20):c.2435C>T (p.Thr812Ile)
|
|
|
NM_001134363.3(RBM20):c.2436_2442del (p.Arg813fs)
|
rs1554842805
|
|
NM_001134363.3(RBM20):c.2437A>G (p.Arg813Gly)
|
rs2135106132
|
|
NM_001134363.3(RBM20):c.2443_2454del (p.Pro815_Ala818del)
|
rs2135106138
|
|
NM_001134363.3(RBM20):c.2453C>A (p.Ala818Asp)
|
|
|
NM_001134363.3(RBM20):c.2477A>G (p.Asn826Ser)
|
rs773581304
|
|
NM_001134363.3(RBM20):c.2500G>C (p.Asp834His)
|
|
|
NM_001134363.3(RBM20):c.2501A>G (p.Asp834Gly)
|
|
|
NM_001134363.3(RBM20):c.2504AAG[1] (p.Glu836del)
|
rs1554842819
|
|
NM_001134363.3(RBM20):c.2518del (p.Asp840fs)
|
rs2135106385
|
|
NM_001134363.3(RBM20):c.2521del (p.Arg841fs)
|
rs1590696621
|
|
NM_001134363.3(RBM20):c.2528A>G (p.Glu843Gly)
|
rs1844794265
|
|
NM_001134363.3(RBM20):c.2539G>A (p.Ala847Thr)
|
rs1844794627
|
|
NM_001134363.3(RBM20):c.2540C>T (p.Ala847Val)
|
rs1844794673
|
|
NM_001134363.3(RBM20):c.2545A>C (p.Asn849His)
|
|
|
NM_001134363.3(RBM20):c.2550+1G>A
|
rs1844794840
|
|
NM_001134363.3(RBM20):c.2550+4A>G
|
|
|
NM_001134363.3(RBM20):c.2551-3A>G
|
|
|
NM_001134363.3(RBM20):c.2564A>T (p.Glu855Val)
|
|
|
NM_001134363.3(RBM20):c.2566C>G (p.Gln856Glu)
|
|
|
NM_001134363.3(RBM20):c.2566C>T (p.Gln856Ter)
|
|
|
NM_001134363.3(RBM20):c.2575A>G (p.Met859Val)
|
rs1844888587
|
|
NM_001134363.3(RBM20):c.2577G>A (p.Met859Ile)
|
|
|
NM_001134363.3(RBM20):c.257C>T (p.Pro86Leu)
|
|
|
NM_001134363.3(RBM20):c.2587C>T (p.Pro863Ser)
|
rs367791037
|
|
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg)
|
rs794729153
|
|
NM_001134363.3(RBM20):c.258T>G (p.Pro86=)
|
|
|
NM_001134363.3(RBM20):c.2591A>G (p.Gln864Arg)
|
|
|
NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter)
|
rs1861836936
|
|
NM_001134363.3(RBM20):c.2600del (p.Gly867fs)
|
|
|
NM_001134363.3(RBM20):c.2603G>T (p.Arg868Ile)
|
rs1236252537
|
|
NM_001134363.3(RBM20):c.2605C>T (p.Gln869Ter)
|
rs1564663888
|
|
NM_001134363.3(RBM20):c.260C>T (p.Ala87Val)
|
|
|
NM_001134363.3(RBM20):c.2612AAG[1] (p.Glu872del)
|
rs1236064535
|
|
NM_001134363.3(RBM20):c.2627C>A (p.Ser876Tyr)
|
|
|
NM_001134363.3(RBM20):c.262A>G (p.Ser88Gly)
|
rs1844329109
|
|
NM_001134363.3(RBM20):c.2632C>T (p.Pro878Ser)
|
|
|
NM_001134363.3(RBM20):c.2655+6G>C
|
|
|
NM_001134363.3(RBM20):c.2667G>A (p.Trp889Ter)
|
|
|
NM_001134363.3(RBM20):c.2672G>A (p.Ser891Asn)
|
|
|
NM_001134363.3(RBM20):c.2675A>T (p.Glu892Val)
|
|
|
NM_001134363.3(RBM20):c.2678G>A (p.Ser893Asn)
|
rs1336475076
|
|
NM_001134363.3(RBM20):c.2689G>C (p.Gly897Arg)
|
rs982286757
|
|
NM_001134363.3(RBM20):c.2692G>C (p.Glu898Gln)
|
|
|
NM_001134363.3(RBM20):c.2694G>C (p.Glu898Asp)
|
|
|
NM_001134363.3(RBM20):c.2714T>G (p.Met905Arg)
|
rs1564664312
|
|
NM_001134363.3(RBM20):c.2716G>A (p.Glu906Lys)
|
rs1554843516
|
|
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys)
|
rs1564664325
|
|
NM_001134363.3(RBM20):c.2720A>C (p.Glu907Ala)
|
rs1554843517
|
|
NM_001134363.3(RBM20):c.2720_2725del (p.Glu907_Leu908del)
|
rs2135120852
|
|
NM_001134363.3(RBM20):c.2721G>C (p.Glu907Asp)
|
|
|
NM_001134363.3(RBM20):c.2726T>A (p.Val909Glu)
|
|
|
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro)
|
rs397516606
|
|
NM_001134363.3(RBM20):c.2730_2731inv (p.Val911Leu)
|
|
|
NM_001134363.3(RBM20):c.2732T>C (p.Val911Ala)
|
rs1590701525
|
|
NM_001134363.3(RBM20):c.2740G>T (p.Val914Phe)
|
|
|
NM_001134363.3(RBM20):c.2741T>A (p.Val914Asp)
|
rs794729154
|
|
NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala)
|
rs794729154
|
|
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys)
|
rs727504859
|
|
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del)
|
rs765389992
|
|
NM_001134363.3(RBM20):c.2749G>A (p.Glu917Lys)
|
rs1844907124
|
|
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln)
|
rs1844907124
|
|
NM_001134363.3(RBM20):c.2754A>C (p.Glu918Asp)
|
|
|
NM_001134363.3(RBM20):c.2758T>G (p.Phe920Val)
|
|
|
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe)
|
rs397516608
|
|
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu)
|
rs947100716
|
|
NM_001134363.3(RBM20):c.277C>T (p.Gln93Ter)
|
|
|
NM_001134363.3(RBM20):c.2802del (p.Ile935fs)
|
rs2135121046
|
|
NM_001134363.3(RBM20):c.2807A>G (p.Asp936Gly)
|
rs1225927754
|
|
NM_001134363.3(RBM20):c.2833A>T (p.Thr945Ser)
|
rs2135121107
|
|
NM_001134363.3(RBM20):c.2840T>C (p.Leu947Pro)
|
|
|
NM_001134363.3(RBM20):c.2845G>T (p.Val949Leu)
|
rs1844908453
|
|
NM_001134363.3(RBM20):c.2849C>G (p.Thr950Arg)
|
|
|
NM_001134363.3(RBM20):c.2866G>C (p.Asp956His)
|
|
|
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu)
|
rs1554843535
|
|
NM_001134363.3(RBM20):c.2893G>A (p.Gly965Arg)
|
rs2135121307
|
|
NM_001134363.3(RBM20):c.2905G>T (p.Val969Leu)
|
rs369747752
|
|
NM_001134363.3(RBM20):c.2917G>T (p.Ala973Ser)
|
|
|
NM_001134363.3(RBM20):c.2920G>A (p.Ala974Thr)
|
|
|
NM_001134363.3(RBM20):c.2930G>A (p.Ser977Asn)
|
rs1844910126
|
|
NM_001134363.3(RBM20):c.2936A>G (p.Lys979Arg)
|
rs1844910226
|
|
NM_001134363.3(RBM20):c.2938T>C (p.Ser980Pro)
|
|
|
NM_001134363.3(RBM20):c.2971T>C (p.Cys991Arg)
|
rs2135121541
|
|
NM_001134363.3(RBM20):c.2975C>G (p.Pro992Arg)
|
rs1844911019
|
|
NM_001134363.3(RBM20):c.2981A>T (p.Asp994Val)
|
|
|
NM_001134363.3(RBM20):c.2984T>C (p.Met995Thr)
|
|
|
NM_001134363.3(RBM20):c.2988C>A (p.Asp996Glu)
|
rs1249673177
|
|
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe)
|
rs1590673852
|
|
NM_001134363.3(RBM20):c.2990T>C (p.Val997Ala)
|
|
|
NM_001134363.3(RBM20):c.3011T>G (p.Leu1004Arg)
|
|
|
NM_001134363.3(RBM20):c.3019G>A (p.Glu1007Lys)
|
|
|
NM_001134363.3(RBM20):c.3053C>T (p.Ser1018Phe)
|
rs2135121918
|
|
NM_001134363.3(RBM20):c.3053_3056del (p.Ser1018fs)
|
rs770955344
|
|
NM_001134363.3(RBM20):c.3056T>C (p.Leu1019Pro)
|
|
|
NM_001134363.3(RBM20):c.3056T>G (p.Leu1019Arg)
|
|
|
NM_001134363.3(RBM20):c.3071G>C (p.Cys1024Ser)
|
|
|
NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter)
|
rs794729157
|
|
NM_001134363.3(RBM20):c.3098A>G (p.Glu1033Gly)
|
rs1844914032
|
|
NM_001134363.3(RBM20):c.3112C>A (p.His1038Asn)
|
rs891835279
|
|
NM_001134363.3(RBM20):c.3116C>T (p.Pro1039Leu)
|
rs2135122079
|
|
NM_001134363.3(RBM20):c.3122C>G (p.Pro1041Arg)
|
|
|
NM_001134363.3(RBM20):c.3124A>G (p.Thr1042Ala)
|
rs1844914479
|
|
NM_001134363.3(RBM20):c.3128T>C (p.Val1043Ala)
|
rs2135122123
|
|
NM_001134363.3(RBM20):c.3134A>G (p.Gln1045Arg)
|
rs2135122152
|
|
NM_001134363.3(RBM20):c.3137T>G (p.Met1046Arg)
|
|
|
NM_001134363.3(RBM20):c.3146del (p.Pro1049fs)
|
|
|
NM_001134363.3(RBM20):c.3155C>T (p.Ala1052Val)
|
rs1276115385
|
|
NM_001134363.3(RBM20):c.3172C>A (p.Gln1058Lys)
|
|
|
NM_001134363.3(RBM20):c.3173A>G (p.Gln1058Arg)
|
rs1844915728
|
|
NM_001134363.3(RBM20):c.318_326del (p.Gln107_Ala109del)
|
rs1054494691
|
|
NM_001134363.3(RBM20):c.318_327delinsG (p.Gln107_Ala109del)
|
rs1554898774
|
|
NM_001134363.3(RBM20):c.3211A>G (p.Thr1071Ala)
|
|
|
NM_001134363.3(RBM20):c.3220G>T (p.Asp1074Tyr)
|
|
|
NM_001134363.3(RBM20):c.3240C>A (p.Ser1080Arg)
|
rs1217393739
|
|
NM_001134363.3(RBM20):c.3244del (p.Leu1082fs)
|
|
|
NM_001134363.3(RBM20):c.3265C>T (p.Pro1089Ser)
|
rs147356378
|
|
NM_001134363.3(RBM20):c.3266C>A (p.Pro1089His)
|
rs772708424
|
|
NM_001134363.3(RBM20):c.3266C>T (p.Pro1089Leu)
|
rs772708424
|
|
NM_001134363.3(RBM20):c.3267del (p.Ile1090fs)
|
|
|
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs)
|
rs760334885
|
|
NM_001134363.3(RBM20):c.3277G>A (p.Asp1093Asn)
|
rs1844919019
|
|
NM_001134363.3(RBM20):c.3277G>T (p.Asp1093Tyr)
|
rs1844919019
|
|
NM_001134363.3(RBM20):c.3280C>A (p.Leu1094Ile)
|
|
|
NM_001134363.3(RBM20):c.3296G>T (p.Cys1099Phe)
|
|
|
NM_001134363.3(RBM20):c.3304G>A (p.Val1102Met)
|
|
|
NM_001134363.3(RBM20):c.3305T>C (p.Val1102Ala)
|
|
|
NM_001134363.3(RBM20):c.3316+1G>A
|
|
|
NM_001134363.3(RBM20):c.3329A>T (p.Tyr1110Phe)
|
rs1844943542
|
|
NM_001134363.3(RBM20):c.332C>T (p.Thr111Ile)
|
|
|
NM_001134363.3(RBM20):c.3330C>G (p.Tyr1110Ter)
|
rs991930637
|
|
NM_001134363.3(RBM20):c.3332T>C (p.Val1111Ala)
|
rs2135125770
|
|
NM_001134363.3(RBM20):c.3347T>C (p.Leu1116Pro)
|
|
|
NM_001134363.3(RBM20):c.3359C>T (p.Ser1120Leu)
|
|
|
NM_001134363.3(RBM20):c.3365A>G (p.Glu1122Gly)
|
rs762399453
|
|
NM_001134363.3(RBM20):c.3367T>G (p.Tyr1123Asp)
|
|
|
NM_001134363.3(RBM20):c.3382C>G (p.Leu1128Val)
|
|
|
NM_001134363.3(RBM20):c.3383dup (p.Lys1129fs)
|
|
|
NM_001134363.3(RBM20):c.3394C>G (p.Leu1132Val)
|
rs1554843750
|
|
NM_001134363.3(RBM20):c.3394C>T (p.Leu1132Phe)
|
|
|
NM_001134363.3(RBM20):c.3395T>G (p.Leu1132Arg)
|
|
|
NM_001134363.3(RBM20):c.3403C>T (p.Pro1135Ser)
|
|
|
NM_001134363.3(RBM20):c.3424G>T (p.Val1142Leu)
|
|
|
NM_001134363.3(RBM20):c.3425T>C (p.Val1142Ala)
|
|
|
NM_001134363.3(RBM20):c.3427T>C (p.Phe1143Leu)
|
|
|
NM_001134363.3(RBM20):c.3442A>G (p.Ile1148Val)
|
|
|
NM_001134363.3(RBM20):c.3451+3A>G
|
rs1844945720
|
|
NM_001134363.3(RBM20):c.3451+5G>A
|
rs2135126064
|
|
NM_001134363.3(RBM20):c.3452-2del
|
rs1845044801
|
|
NM_001134363.3(RBM20):c.3455T>G (p.Val1152Gly)
|
|
|
NM_001134363.3(RBM20):c.3473G>C (p.Arg1158Thr)
|
|
|
NM_001134363.3(RBM20):c.3476C>A (p.Thr1159Asn)
|
|
|
NM_001134363.3(RBM20):c.347C>T (p.Ala116Val)
|
|
|
NM_001134363.3(RBM20):c.3480del (p.Tyr1162fs)
|
|
|
NM_001134363.3(RBM20):c.3482T>A (p.Phe1161Tyr)
|
|
|
NM_001134363.3(RBM20):c.3485A>T (p.Tyr1162Phe)
|
rs1845045632
|
|
NM_001134363.3(RBM20):c.3489C>A (p.Cys1163Ter)
|
rs1395153921
|
|
NM_001134363.3(RBM20):c.349G>T (p.Ala117Ser)
|
rs373480063
|
|
NM_001134363.3(RBM20):c.3501G>T (p.Gly1167=)
|
rs1845046064
|
|
NM_001134363.3(RBM20):c.3505T>C (p.Phe1169Leu)
|
|
|
NM_001134363.3(RBM20):c.3512C>A (p.Thr1171Lys)
|
rs371181124
|
|
NM_001134363.3(RBM20):c.3512C>G (p.Thr1171Arg)
|
rs371181124
|
|
NM_001134363.3(RBM20):c.3515G>A (p.Ser1172Asn)
|
rs1165657860
|
|
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys)
|
rs542297252
|
|
NM_001134363.3(RBM20):c.3532A>G (p.Met1178Val)
|
|
|
NM_001134363.3(RBM20):c.353C>T (p.Thr118Ile)
|
rs2135041252
|
|
NM_001134363.3(RBM20):c.3551C>T (p.Ala1184Val)
|
rs2135138718
|
|
NM_001134363.3(RBM20):c.3556C>T (p.His1186Tyr)
|
|
|
NM_001134363.3(RBM20):c.3557A>G (p.His1186Arg)
|
rs1845047234
|
|
NM_001134363.3(RBM20):c.3564G>C (p.Arg1188Ser)
|
rs1060503416
|
|
NM_001134363.3(RBM20):c.3565A>G (p.Asn1189Asp)
|
|
|
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.3586C>T (p.Gln1196Ter)
|
rs1845119781
|
|
NM_001134363.3(RBM20):c.3592_3612dup (p.Ala1198_Glu1204dup)
|
rs2135147884
|
|
NM_001134363.3(RBM20):c.3594_3623dup (p.Glu1199_Ala1208dup)
|
rs1554844950
|
|
NM_001134363.3(RBM20):c.3597G>C (p.Glu1199Asp)
|
rs1177544843
|
|
NM_001134363.3(RBM20):c.35A>T (p.Asp12Val)
|
rs887276458
|
|
NM_001134363.3(RBM20):c.3610G>A (p.Glu1204Lys)
|
|
|
NM_001134363.3(RBM20):c.3612G>T (p.Glu1204Asp)
|
rs1845120577
|
|
NM_001134363.3(RBM20):c.3622G>T (p.Ala1208Ser)
|
|
|
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu)
|
rs587782973
|
|
NM_001134363.3(RBM20):c.363C>G (p.Asn121Lys)
|
|
|
NM_001134363.3(RBM20):c.3646A>G (p.Ser1216Gly)
|
|
|
NM_001134363.3(RBM20):c.3649G>C (p.Gly1217Arg)
|
|
|
NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu)
|
rs727504583
|
|
NM_001134363.3(RBM20):c.3659del (p.Pro1220fs)
|
rs1485325927
|
|
NM_001134363.3(RBM20):c.365A>C (p.Gln122Pro)
|
|
|
NM_001134363.3(RBM20):c.3669A>T (p.Glu1223Asp)
|
rs1290645091
|
|
NM_001134363.3(RBM20):c.371T>C (p.Leu124Pro)
|
|
|
NM_001134363.3(RBM20):c.409C>G (p.Leu137Val)
|
rs876657570
|
|
NM_001134363.3(RBM20):c.436C>T (p.Pro146Ser)
|
|
|
NM_001134363.3(RBM20):c.437C>T (p.Pro146Leu)
|
rs2135041549
|
|
NM_001134363.3(RBM20):c.43G>A (p.Gly15Ser)
|
rs559040957
|
|
NM_001134363.3(RBM20):c.440A>G (p.His147Arg)
|
|
|
NM_001134363.3(RBM20):c.454G>T (p.Val152Phe)
|
|
|
NM_001134363.3(RBM20):c.458C>T (p.Pro153Leu)
|
|
|
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter)
|
rs2135041646
|
|
NM_001134363.3(RBM20):c.464A>T (p.His155Leu)
|
rs1844333730
|
|
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del)
|
rs1231520936
|
|
NM_001134363.3(RBM20):c.478C>T (p.Pro160Ser)
|
|
|
NM_001134363.3(RBM20):c.502G>A (p.Ala168Thr)
|
|
|
NM_001134363.3(RBM20):c.503C>T (p.Ala168Val)
|
|
|
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val)
|
rs2135041793
|
|
NM_001134363.3(RBM20):c.508G>C (p.Ala170Pro)
|
|
|
NM_001134363.3(RBM20):c.514dup (p.Ser172fs)
|
|
|
NM_001134363.3(RBM20):c.520C>A (p.Pro174Thr)
|
|
|
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
|
|
|
NM_001134363.3(RBM20):c.521C>T (p.Pro174Leu)
|
|
|
NM_001134363.3(RBM20):c.522del (p.Ser175fs)
|
rs1844336329
|
|
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg)
|
rs183130427
|
|
NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter)
|
rs794729161
|
|
NM_001134363.3(RBM20):c.536_537delinsTT (p.Gly179Val)
|
rs2135041998
|
|
NM_001134363.3(RBM20):c.544C>T (p.Pro182Ser)
|
|
|
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr)
|
rs2135042080
|
|
NM_001134363.3(RBM20):c.559C>G (p.Pro187Ala)
|
|
|
NM_001134363.3(RBM20):c.57_58delinsTT (p.Asp20Tyr)
|
rs2134792632
|
|
NM_001134363.3(RBM20):c.580A>G (p.Met194Val)
|
rs2135042187
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NM_001134363.3(RBM20):c.586A>T (p.Met196Leu)
|
|
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NM_001134363.3(RBM20):c.593C>A (p.Pro198His)
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|
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NM_001134363.3(RBM20):c.602G>C (p.Gly201Ala)
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NM_001134363.3(RBM20):c.639C>G (p.Ile213Met)
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NM_001134363.3(RBM20):c.659G>A (p.Gly220Glu)
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rs2135042457
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NM_001134363.3(RBM20):c.680G>A (p.Gly227Glu)
|
rs202238753
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NM_001134363.3(RBM20):c.68C>T (p.Ala23Val)
|
rs925693368
|
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NM_001134363.3(RBM20):c.700G>C (p.Ala234Pro)
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|
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NM_001134363.3(RBM20):c.705C>A (p.Ser235Arg)
|
rs1257780371
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NM_001134363.3(RBM20):c.70T>A (p.Cys24Ser)
|
rs1371624996
|
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NM_001134363.3(RBM20):c.70T>C (p.Cys24Arg)
|
rs1371624996
|
|
NM_001134363.3(RBM20):c.710G>A (p.Gly237Asp)
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NM_001134363.3(RBM20):c.719A>G (p.Tyr240Cys)
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NM_001134363.3(RBM20):c.722G>T (p.Gly241Val)
|
rs1844342727
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NM_001134363.3(RBM20):c.736G>T (p.Gly246Cys)
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|
|
NM_001134363.3(RBM20):c.741G>T (p.Gln247His)
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NM_001134363.3(RBM20):c.743C>T (p.Pro248Leu)
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NM_001134363.3(RBM20):c.746G>T (p.Gly249Val)
|
rs397516623
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NM_001134363.3(RBM20):c.776G>A (p.Gly259Asp)
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NM_001134363.3(RBM20):c.794_795dup (p.His266fs)
|
rs1564844065
|
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NM_001134363.3(RBM20):c.809C>T (p.Thr270Ile)
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|
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NM_001134363.3(RBM20):c.812G>A (p.Gly271Glu)
|
rs1055998681
|
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NM_001134363.3(RBM20):c.829G>A (p.Ala277Thr)
|
rs894218251
|
|
NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg)
|
rs2135043435
|
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NM_001134363.3(RBM20):c.844T>G (p.Phe282Val)
|
rs2135043456
|
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NM_001134363.3(RBM20):c.853C>A (p.Pro285Thr)
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NM_001134363.3(RBM20):c.854C>T (p.Pro285Leu)
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NM_001134363.3(RBM20):c.857A>G (p.Asn286Ser)
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|
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NM_001134363.3(RBM20):c.860C>T (p.Ser287Phe)
|
rs1844346532
|
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NM_001134363.3(RBM20):c.864A>T (p.Gln288His)
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|
|
NM_001134363.3(RBM20):c.870A>G (p.Ser290=)
|
rs1554898912
|
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NM_001134363.3(RBM20):c.874G>T (p.Val292Leu)
|
rs886046702
|
|
NM_001134363.3(RBM20):c.87_92del (p.Arg30_Ala31del)
|
rs2134792690
|
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NM_001134363.3(RBM20):c.880A>G (p.Ser294Gly)
|
rs1844347006
|
|
NM_001134363.3(RBM20):c.882C>A (p.Ser294Arg)
|
rs374921844
|
|
NM_001134363.3(RBM20):c.89_90delinsCA (p.Arg30Pro)
|
rs1861838722
|
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NM_001134363.3(RBM20):c.901del (p.Ala301fs)
|
rs1844347315
|
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NM_001134363.3(RBM20):c.902C>T (p.Ala301Val)
|
|
|
NM_001134363.3(RBM20):c.907G>A (p.Gly303Ser)
|
|
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NM_001134363.3(RBM20):c.914A>C (p.Lys305Thr)
|
|
|
NM_001134363.3(RBM20):c.922G>A (p.Val308Ile)
|
rs1590674817
|
|
NM_001134363.3(RBM20):c.950G>A (p.Ser317Asn)
|
rs1844348749
|
|
NM_001134363.3(RBM20):c.956G>A (p.Trp319Ter)
|
|
|
NM_001134363.3(RBM20):c.968A>G (p.His323Arg)
|
rs568559249
|
|
NM_001134363.3(RBM20):c.973T>C (p.Phe325Leu)
|
|
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NM_001134363.3(RBM20):c.982C>T (p.Gln328Ter)
|
|
|
NM_001134363.3(RBM20):c.98C>G (p.Pro33Arg)
|
|
|
NM_001134363.3(RBM20):c.98del (p.Pro33fs)
|
rs1413443268
|
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NM_001134363.3(RBM20):c.991C>T (p.Pro331Ser)
|
|
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