NM_000202.8(IDS):c.1269C>T (p.Pro423=)
|
rs61736890
|
0.00558
|
NM_000202.8(IDS):c.418+12T>C
|
rs470986
|
0.00178
|
NM_000202.8(IDS):c.126C>T (p.Ile42=)
|
rs146963087
|
0.00117
|
NM_000202.8(IDS):c.123C>G (p.Leu41=)
|
rs146904022
|
0.00115
|
NM_000202.8(IDS):c.1181-13C>T
|
rs188486717
|
0.00078
|
NM_000202.8(IDS):c.336C>T (p.His112=)
|
rs138687038
|
0.00073
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys)
|
rs142248439
|
0.00016
|
NM_000202.8(IDS):c.103+7C>T
|
rs369735286
|
0.00013
|
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile)
|
rs372205468
|
0.00011
|
NM_000202.8(IDS):c.236C>G (p.Ala79Gly)
|
rs368513342
|
0.00011
|
NM_000202.8(IDS):c.1227G>A (p.Thr409=)
|
rs201905166
|
0.00009
|
NM_000202.8(IDS):c.234T>C (p.Phe78=)
|
rs782290556
|
0.00009
|
NM_000202.8(IDS):c.304C>T (p.Leu102=)
|
rs782790524
|
0.00008
|
NM_000202.8(IDS):c.357C>T (p.Ile119=)
|
rs782362742
|
0.00006
|
NM_000202.8(IDS):c.103+6G>A
|
rs781956472
|
0.00005
|
NM_000202.8(IDS):c.1248G>A (p.Leu416=)
|
rs1306764023
|
0.00005
|
NM_000202.8(IDS):c.104-9C>G
|
rs371864469
|
0.00004
|
NM_000202.8(IDS):c.1290G>A (p.Glu430=)
|
rs140633427
|
0.00004
|
NM_000202.8(IDS):c.162T>C (p.Tyr54=)
|
rs141088021
|
0.00004
|
NM_000202.8(IDS):c.246A>G (p.Ala82=)
|
rs1447255384
|
0.00004
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
|
rs373820890
|
0.00003
|
NM_000202.8(IDS):c.1284C>T (p.His428=)
|
rs782163574
|
0.00003
|
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)
|
rs782340858
|
0.00003
|
NM_000202.8(IDS):c.309C>T (p.Tyr103=)
|
rs1174495581
|
0.00003
|
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys)
|
rs781825818
|
0.00002
|
NM_000202.8(IDS):c.1347G>A (p.Glu449=)
|
rs782690963
|
0.00002
|
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
NM_000202.8(IDS):c.147C>T (p.Pro49=)
|
rs1557340415
|
0.00002
|
NM_000202.8(IDS):c.1560G>A (p.Gly520=)
|
rs782724941
|
0.00002
|
NM_000202.8(IDS):c.1642T>C (p.Leu548=)
|
rs1557337560
|
0.00002
|
NM_000202.8(IDS):c.177G>A (p.Val59=)
|
rs782743276
|
0.00002
|
NM_000202.8(IDS):c.189T>C (p.Asn63=)
|
rs782083523
|
0.00002
|
NM_000202.8(IDS):c.240+13A>G
|
rs782621152
|
0.00002
|
NM_000202.8(IDS):c.264C>T (p.Arg88=)
|
rs375362189
|
0.00002
|
NM_000202.8(IDS):c.97A>T (p.Thr33Ser)
|
rs782158763
|
0.00002
|
NM_000202.8(IDS):c.103+12G>A
|
rs782156440
|
0.00001
|
NM_000202.8(IDS):c.114C>T (p.Asn38=)
|
rs149512799
|
0.00001
|
NM_000202.8(IDS):c.1181-15C>T
|
rs199965368
|
0.00001
|
NM_000202.8(IDS):c.1181-19C>G
|
rs1557337665
|
0.00001
|
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
|
rs782475200
|
0.00001
|
NM_000202.8(IDS):c.1254T>G (p.Val418=)
|
rs1557337653
|
0.00001
|
NM_000202.8(IDS):c.1257A>G (p.Pro419=)
|
rs782066597
|
0.00001
|
NM_000202.8(IDS):c.1353G>A (p.Pro451=)
|
rs920711197
|
0.00001
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys)
|
rs782190885
|
0.00001
|
NM_000202.8(IDS):c.1483A>G (p.Ile495Val)
|
rs782228221
|
0.00001
|
NM_000202.8(IDS):c.1536T>A (p.Ala512=)
|
rs782673868
|
0.00001
|
NM_000202.8(IDS):c.1623T>G (p.Gly541=)
|
rs1557337565
|
0.00001
|
NM_000202.8(IDS):c.198A>G (p.Gln66=)
|
rs1557340398
|
0.00001
|
NM_000202.8(IDS):c.237G>A (p.Ala79=)
|
rs782183418
|
0.00001
|
NM_000202.8(IDS):c.252C>T (p.Cys84=)
|
rs1557340286
|
0.00001
|
NM_000202.8(IDS):c.285G>A (p.Arg95=)
|
rs782779732
|
0.00001
|
NM_000202.8(IDS):c.289C>A (p.Pro97Thr)
|
rs1557340273
|
0.00001
|
NM_000202.8(IDS):c.352A>T (p.Thr118Ser)
|
rs2089496220
|
0.00001
|
NC_000023.10:g.(?_148564257)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_148564257)_(148586687_?)dup
|
|
|
NC_000023.10:g.(?_148564267)_(148586894_?)del
|
|
|
NC_000023.10:g.(?_148564277)_(148564769_?)del
|
|
|
NC_000023.10:g.(?_148564277)_(148564769_?)dup
|
|
|
NC_000023.10:g.(?_148564277)_(148586667_?)del
|
|
|
NC_000023.10:g.(?_148564277)_(148586667_?)dup
|
|
|
NC_000023.10:g.(?_148571835)_(148582578_?)del
|
|
|
NC_000023.10:g.(?_148577857)_(148579858_?)del
|
|
|
NC_000023.10:g.(?_148578704)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_148579618)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_148579628)_(148579848_?)dup
|
|
|
NC_000023.10:g.(?_148582460)_(148586667_?)dup
|
|
|
NM_000202.5(IDS):c.[1464G>T,1466G>C]
|
|
|
NM_000202.6(IDS):c.[1403G>A;1394A>T]
|
|
|
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
|
|
|
NM_000202.8(IDS):c.103+11C>T
|
|
|
NM_000202.8(IDS):c.103+13C>G
|
|
|
NM_000202.8(IDS):c.103+14C>T
|
|
|
NM_000202.8(IDS):c.103+19C>T
|
|
|
NM_000202.8(IDS):c.103+5C>T
|
rs782108228
|
|
NM_000202.8(IDS):c.103+9C>T
|
|
|
NM_000202.8(IDS):c.103G>C (p.Asp35His)
|
rs2089514224
|
|
NM_000202.8(IDS):c.104-10T>A
|
|
|
NM_000202.8(IDS):c.104-16C>G
|
|
|
NM_000202.8(IDS):c.104-16C>T
|
|
|
NM_000202.8(IDS):c.104-17C>T
|
|
|
NM_000202.8(IDS):c.104-19G>A
|
|
|
NM_000202.8(IDS):c.104-1_104delinsT
|
rs2089505743
|
|
NM_000202.8(IDS):c.104-2A>C
|
rs2089505773
|
|
NM_000202.8(IDS):c.104-2A>G
|
rs2089505773
|
|
NM_000202.8(IDS):c.104-4G>A
|
rs2124066481
|
|
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
|
|
|
NM_000202.8(IDS):c.108T>G (p.Ala36=)
|
rs2089505645
|
|
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)
|
|
|
NM_000202.8(IDS):c.116T>A (p.Val39Asp)
|
|
|
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
|
rs2089505317
|
|
NM_000202.8(IDS):c.1181-14G>A
|
|
|
NM_000202.8(IDS):c.1181-1G>A
|
rs864622777
|
|
NM_000202.8(IDS):c.1181-1G>C
|
rs864622777
|
|
NM_000202.8(IDS):c.1188A>G (p.Gln396=)
|
rs2123995158
|
|
NM_000202.8(IDS):c.1188del (p.Gln396fs)
|
|
|
NM_000202.8(IDS):c.1191C>T (p.Ser397=)
|
|
|
NM_000202.8(IDS):c.1191del (p.Met398fs)
|
rs2089308367
|
|
NM_000202.8(IDS):c.1196A>T (p.Asp399Val)
|
|
|
NM_000202.8(IDS):c.1197C>T (p.Asp399=)
|
|
|
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
|
|
|
NM_000202.8(IDS):c.119T>C (p.Leu40Pro)
|
|
|
NM_000202.8(IDS):c.1203G>A (p.Val401=)
|
|
|
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
|
|
|
NM_000202.8(IDS):c.1212G>C (p.Val404=)
|
rs2123995105
|
|
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
|
|
|
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs)
|
rs2089308167
|
|
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs)
|
rs2123995091
|
|
NM_000202.8(IDS):c.121_123del (p.Leu41del)
|
rs2124066296
|
|
NM_000202.8(IDS):c.1221del (p.Thr409fs)
|
rs2089308131
|
|
NM_000202.8(IDS):c.1222C>G (p.Pro408Ala)
|
|
|
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser)
|
|
|
NM_000202.8(IDS):c.1224dup (p.Thr409fs)
|
rs2123995054
|
|
NM_000202.8(IDS):c.1226C>T (p.Thr409Met)
|
|
|
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter)
|
rs2089307950
|
|
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs)
|
rs2089307879
|
|
NM_000202.8(IDS):c.1248G>T (p.Leu416=)
|
|
|
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter)
|
rs2123994961
|
|
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
|
rs2089505177
|
|
NM_000202.8(IDS):c.1253T>C (p.Val418Ala)
|
|
|
NM_000202.8(IDS):c.1254del (p.Pro419fs)
|
rs2123994946
|
|
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
|
|
|
NM_000202.8(IDS):c.1259del (p.Pro420fs)
|
rs2089307675
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly)
|
rs199422229
|
|
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
|
rs886044835
|
|
NM_000202.8(IDS):c.1269del (p.Val424fs)
|
|
|
NM_000202.8(IDS):c.1272del (p.Pro425fs)
|
rs2123994828
|
|
NM_000202.8(IDS):c.1275T>A (p.Pro425=)
|
|
|
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr)
|
|
|
NM_000202.8(IDS):c.1293G>A (p.Leu431=)
|
rs782203657
|
|
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
|
|
|
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)
|
rs2089307094
|
|
NM_000202.8(IDS):c.129C>T (p.Ile43=)
|
rs2124066238
|
|
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys)
|
|
|
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
|
|
|
NM_000202.8(IDS):c.1316del (p.Leu439fs)
|
rs2123994709
|
|
NM_000202.8(IDS):c.1317G>T (p.Leu439=)
|
|
|
NM_000202.8(IDS):c.1327C>A (p.Arg443=)
|
|
|
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
|
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)
|
|
|
NM_000202.8(IDS):c.1334G>A (p.Arg445His)
|
|
|
NM_000202.8(IDS):c.1335T>C (p.Arg445=)
|
|
|
NM_000202.8(IDS):c.1338C>T (p.Asp446=)
|
|
|
NM_000202.8(IDS):c.133G>C (p.Asp45His)
|
rs869025301
|
|
NM_000202.8(IDS):c.133del (p.Asp45fs)
|
rs2089504895
|
|
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter)
|
rs2089306573
|
|
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)
|
|
|
NM_000202.8(IDS):c.134A>G (p.Asp45Gly)
|
|
|
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu)
|
rs2123994624
|
|
NM_000202.8(IDS):c.1350del (p.Pro451fs)
|
rs2089306467
|
|
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg)
|
|
|
NM_000202.8(IDS):c.1353G>C (p.Pro451=)
|
rs920711197
|
|
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs)
|
rs2089306333
|
|
NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter)
|
|
|
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
|
|
|
NM_000202.8(IDS):c.136G>A (p.Asp46Asn)
|
rs2089504816
|
|
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr)
|
rs2089504816
|
|
NM_000202.8(IDS):c.1371C>G (p.Pro457=)
|
|
|
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
|
|
|
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)
|
rs2123994508
|
|
NM_000202.8(IDS):c.1378C>T (p.Leu460=)
|
|
|
NM_000202.8(IDS):c.1380G>A (p.Leu460=)
|
|
|
NM_000202.8(IDS):c.1387T>C (p.Tyr463His)
|
rs1365886210
|
|
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
|
|
|
NM_000202.8(IDS):c.1389T>C (p.Tyr463=)
|
|
|
NM_000202.8(IDS):c.138C>A (p.Asp46Glu)
|
|
|
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)
|
rs864622772
|
|
NM_000202.8(IDS):c.1395G>A (p.Gln465=)
|
rs2123994427
|
|
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg)
|
rs1602725808
|
|
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu)
|
rs1602725808
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1402del (p.Arg468fs)
|
rs2123994397
|
|
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu)
|
rs113993946
|
|
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu)
|
rs2123994360
|
|
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)
|
|
|
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
|
|
|
NM_000202.8(IDS):c.1416C>T (p.Ile472=)
|
rs2123994324
|
|
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)
|
rs2123994315
|
|
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu)
|
rs2089305403
|
|
NM_000202.8(IDS):c.1422G>A (p.Gln474=)
|
rs1569560371
|
|
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)
|
rs199422230
|
|
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del)
|
rs2089305217
|
|
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
|
|
|
NM_000202.8(IDS):c.1431del (p.Asp478fs)
|
rs2089305275
|
|
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly)
|
rs864622773
|
|
NM_000202.8(IDS):c.1434C>T (p.Asp478=)
|
|
|
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs)
|
rs2123994213
|
|
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs)
|
rs2089305109
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)
|
rs1569560528
|
|
NM_000202.8(IDS):c.1440G>A (p.Pro480=)
|
|
|
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs)
|
rs2123994237
|
|
NM_000202.8(IDS):c.1443T>C (p.Ser481=)
|
|
|
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
|
|
|
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu)
|
rs2123994225
|
|
NM_000202.8(IDS):c.1452T>C (p.Asp484=)
|
|
|
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys)
|
rs782430567
|
|
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)
|
|
|
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs)
|
rs2089305017
|
|
NM_000202.8(IDS):c.1463del (p.Met488fs)
|
rs869025307
|
|
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala)
|
rs104894863
|
|
NM_000202.8(IDS):c.1466del (p.Gly489fs)
|
rs2123994190
|
|
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)
|
|
|
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter)
|
rs2123994176
|
|
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
|
|
|
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro)
|
rs782347729
|
|
NM_000202.8(IDS):c.1479C>T (p.Arg493=)
|
|
|
NM_000202.8(IDS):c.147C>G (p.Pro49=)
|
rs1557340415
|
|
NM_000202.8(IDS):c.1482C>T (p.Thr494=)
|
rs2123994147
|
|
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs)
|
rs2089304532
|
|
NM_000202.8(IDS):c.1494del (p.Arg498fs)
|
|
|
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)
|
rs2089304408
|
|
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
|
|
|
NM_000202.8(IDS):c.1500T>A (p.Thr500=)
|
|
|
NM_000202.8(IDS):c.1500T>C (p.Thr500=)
|
rs1602725629
|
|
NM_000202.8(IDS):c.1503G>C (p.Val501=)
|
|
|
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
|
|
|
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)
|
rs2089304297
|
|
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter)
|
rs199422228
|
|
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser)
|
rs199422228
|
|
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)
|
|
|
NM_000202.8(IDS):c.1506G>T (p.Trp502Cys)
|
rs2124648374
|
|
NM_000202.8(IDS):c.1508T>A (p.Val503Asp)
|
rs398123248
|
|
NM_000202.8(IDS):c.151C>T (p.Leu51=)
|
rs1340608360
|
|
NM_000202.8(IDS):c.152_236del (p.Leu51fs)
|
rs2124065699
|
|
NM_000202.8(IDS):c.1531C>T (p.Leu511=)
|
|
|
NM_000202.8(IDS):c.1536T>C (p.Ala512=)
|
rs782673868
|
|
NM_000202.8(IDS):c.1539C>T (p.Asn513=)
|
|
|
NM_000202.8(IDS):c.1548C>T (p.Asp516=)
|
|
|
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)
|
rs2124648301
|
|
NM_000202.8(IDS):c.1561dup (p.Glu521fs)
|
rs2124648304
|
|
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp)
|
rs1602725543
|
|
NM_000202.8(IDS):c.1564C>T (p.Leu522=)
|
rs2124648290
|
|
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)
|
rs2089303696
|
|
NM_000202.8(IDS):c.156C>T (p.Gly52=)
|
rs2089504569
|
|
NM_000202.8(IDS):c.1584C>T (p.Asp528=)
|
rs2124648280
|
|
NM_000202.8(IDS):c.1587A>G (p.Pro529=)
|
|
|
NM_000202.8(IDS):c.1588T>C (p.Leu530=)
|
|
|
NM_000202.8(IDS):c.1589T>A (p.Leu530Ter)
|
rs2124648259
|
|
NM_000202.8(IDS):c.1589dup (p.Leu530fs)
|
rs2124648266
|
|
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)
|
rs886044837
|
|
NM_000202.8(IDS):c.1608T>C (p.Tyr536=)
|
rs2089303285
|
|
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
|
|
|
NM_000202.8(IDS):c.1617C>T (p.Ser539=)
|
rs782717602
|
|
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
|
|
|
NM_000202.8(IDS):c.1626A>C (p.Gly542=)
|
|
|
NM_000202.8(IDS):c.1629T>C (p.Asp543=)
|
|
|
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter)
|
rs141088021
|
|
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)
|
|
|
NM_000202.8(IDS):c.1649C>A (p.Pro550His)
|
|
|
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)
|
|
|
NM_000202.8(IDS):c.165G>A (p.Gly55=)
|
|
|
NM_000202.8(IDS):c.166G>A (p.Asp56Asn)
|
|
|
NM_000202.8(IDS):c.171G>A (p.Lys57=)
|
|
|
NM_000202.8(IDS):c.172C>T (p.Leu58=)
|
|
|
NM_000202.8(IDS):c.172del (p.Leu58fs)
|
|
|
NM_000202.8(IDS):c.181T>C (p.Ser61Pro)
|
rs113993955
|
|
NM_000202.8(IDS):c.182C>T (p.Ser61Phe)
|
rs2124065955
|
|
NM_000202.8(IDS):c.183C>A (p.Ser61=)
|
|
|
NM_000202.8(IDS):c.183C>T (p.Ser61=)
|
rs2124065941
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000202.8(IDS):c.191T>A (p.Ile64Asn)
|
rs781997631
|
|
NM_000202.8(IDS):c.196C>T (p.Gln66Ter)
|
rs1557340403
|
|
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
|
|
|
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)
|
rs2124065847
|
|
NM_000202.8(IDS):c.207C>T (p.Ser69=)
|
|
|
NM_000202.8(IDS):c.212G>A (p.Ser71Asn)
|
rs113993954
|
|
NM_000202.8(IDS):c.212G>T (p.Ser71Ile)
|
rs113993954
|
|
NM_000202.8(IDS):c.213C>T (p.Ser71=)
|
|
|
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
|
|
|
NM_000202.8(IDS):c.222C>T (p.Phe74=)
|
|
|
NM_000202.8(IDS):c.223C>T (p.Gln75Ter)
|
rs2089503778
|
|
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
|
|
|
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
|
|
|
NM_000202.8(IDS):c.231C>T (p.Ala77=)
|
rs1602749217
|
|
NM_000202.8(IDS):c.236C>T (p.Ala79Val)
|
rs368513342
|
|
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)
|
rs1569560527
|
|
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
|
|
|
NM_000202.8(IDS):c.240+11del
|
|
|
NM_000202.8(IDS):c.240+12A>G
|
|
|
NM_000202.8(IDS):c.240+14C>T
|
|
|
NM_000202.8(IDS):c.240+20G>A
|
|
|
NM_000202.8(IDS):c.240+2T>C
|
|
|
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA
|
rs2089503537
|
|
NM_000202.8(IDS):c.240+3A>G
|
rs2124065632
|
|
NM_000202.8(IDS):c.240+7C>T
|
rs2124065624
|
|
NM_000202.8(IDS):c.241-14C>G
|
|
|
NM_000202.8(IDS):c.241-16T>C
|
|
|
NM_000202.8(IDS):c.241-2A>G
|
|
|
NM_000202.8(IDS):c.241-3C>G
|
rs2124063783
|
|
NM_000202.8(IDS):c.241-4A>G
|
|
|
NM_000202.8(IDS):c.241-5A>G
|
|
|
NM_000202.8(IDS):c.241-5A>T
|
rs113993952
|
|
NM_000202.8(IDS):c.241-6T>G
|
|
|
NM_000202.8(IDS):c.241-7C>T
|
rs2124063828
|
|
NM_000202.8(IDS):c.241-9C>G
|
rs2089497858
|
|
NM_000202.8(IDS):c.241C>T (p.Gln81Ter)
|
|
|
NM_000202.8(IDS):c.248T>G (p.Val83Gly)
|
rs1569560525
|
|
NM_000202.8(IDS):c.248del (p.Val83fs)
|
rs2089497718
|
|
NM_000202.8(IDS):c.252C>G (p.Cys84Trp)
|
rs1557340286
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
|
rs1557340280
|
|
NM_000202.8(IDS):c.257C>T (p.Pro86Leu)
|
rs1557340280
|
|
NM_000202.8(IDS):c.258G>A (p.Pro86=)
|
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.275T>C (p.Leu92Pro)
|
rs2089497300
|
|
NM_000202.8(IDS):c.283A>T (p.Arg95Trp)
|
rs2089497268
|
|
NM_000202.8(IDS):c.285_287del (p.Arg96del)
|
|
|
NM_000202.8(IDS):c.292del (p.Asp98fs)
|
|
|
NM_000202.8(IDS):c.300C>T (p.Thr100=)
|
rs2124063502
|
|
NM_000202.8(IDS):c.305T>C (p.Leu102Pro)
|
rs1557340261
|
|
NM_000202.8(IDS):c.305del (p.Leu102fs)
|
rs2089496744
|
|
NM_000202.8(IDS):c.306G>A (p.Leu102=)
|
|
|
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp)
|
rs2089496667
|
|
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter)
|
rs1174495581
|
|
NM_000202.8(IDS):c.312C>T (p.Asp104=)
|
rs2124063377
|
|
NM_000202.8(IDS):c.315C>T (p.Phe105=)
|
rs2124063363
|
|
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)
|
|
|
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
|
rs2124063287
|
|
NM_000202.8(IDS):c.331G>C (p.Val111Leu)
|
rs1602748386
|
|
NM_000202.8(IDS):c.333G>T (p.Val111=)
|
rs2124063244
|
|
NM_000202.8(IDS):c.337G>A (p.Ala113Thr)
|
|
|
NM_000202.8(IDS):c.341del (p.Gly114fs)
|
|
|
NM_000202.8(IDS):c.346T>G (p.Phe116Val)
|
rs2124063192
|
|
NM_000202.8(IDS):c.349_351del (p.Ser117del)
|
rs483352905
|
|
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
|
|
|
NM_000202.8(IDS):c.356del (p.Ile119fs)
|
rs2124063133
|
|
NM_000202.8(IDS):c.359C>A (p.Pro120His)
|
rs193302911
|
|
NM_000202.8(IDS):c.359C>G (p.Pro120Arg)
|
rs193302911
|
|
NM_000202.8(IDS):c.360C>G (p.Pro120=)
|
|
|
NM_000202.8(IDS):c.361C>T (p.Gln121Ter)
|
rs2124063075
|
|
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
|
|
|
NM_000202.8(IDS):c.369_372del (p.Phe123fs)
|
|
|
NM_000202.8(IDS):c.378T>C (p.Asn126=)
|
rs2124063034
|
|
NM_000202.8(IDS):c.380G>A (p.Gly127Asp)
|
|
|
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser)
|
rs2124063021
|
|
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
|
|
|
NM_000202.8(IDS):c.389C>T (p.Thr130Ile)
|
rs1557340233
|
|
NM_000202.8(IDS):c.401G>A (p.Gly134Glu)
|
rs193302910
|
|
NM_000202.8(IDS):c.403A>G (p.Lys135Glu)
|
rs2089495673
|
|
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)
|
rs104894861
|
|
NM_000202.8(IDS):c.404_405del (p.Lys135fs)
|
rs1557340221
|
|
NM_000202.8(IDS):c.411del (p.His138fs)
|
rs864622776
|
|
NM_000202.8(IDS):c.413A>G (p.His138Arg)
|
|
|
NM_000202.8(IDS):c.414C>T (p.His138=)
|
rs1602748259
|
|
NM_000202.8(IDS):c.418+10C>T
|
|
|
NM_000202.8(IDS):c.418+11A>G
|
|
|
NM_000202.8(IDS):c.418+14T>A
|
|
|
NM_000202.8(IDS):c.418+14T>C
|
|
|
NM_000202.8(IDS):c.418+17A>G
|
|
|
NM_000202.8(IDS):c.418+1G>C
|
rs1602748255
|
|
NM_000202.8(IDS):c.418+20G>T
|
|
|
NM_000202.8(IDS):c.418+2T>C
|
rs2124062810
|
|
NM_000202.8(IDS):c.418+34G>T
|
rs1463289439
|
|
NM_000202.8(IDS):c.418+4C>G
|
rs782011209
|
|
NM_000202.8(IDS):c.418+6_418+7del
|
|
|
NM_000202.8(IDS):c.418+8T>C
|
|
|
NM_000202.8(IDS):c.418+9C>G
|
|
|
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs)
|
rs1602750400
|
|
NM_000202.8(IDS):c.92A>G (p.Asn31Ser)
|
|
|
NM_000202.8(IDS):c.98C>T (p.Thr33Ile)
|
|
|
NM_000202.8(IDS):c.[1411G>C;1418C>T]
|
|
|