NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NC_000023.10:g.(?_148564257)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_148564267)_(148586894_?)del
|
|
|
NC_000023.10:g.(?_148564277)_(148564769_?)del
|
|
|
NC_000023.10:g.(?_148564277)_(148586667_?)del
|
|
|
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
|
|
|
NM_000202.5(IDS):c.[1464G>T,1466G>C]
|
|
|
NM_000202.6(IDS):c.[1403G>A;1394A>T]
|
|
|
NM_000202.8(IDS):c.103G>C (p.Asp35His)
|
rs2089514224
|
|
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.117TCT[1] (p.Leu41del)
|
rs2089505317
|
|
NM_000202.8(IDS):c.1181-1G>A
|
rs864622777
|
|
NM_000202.8(IDS):c.1181-1G>C
|
rs864622777
|
|
NM_000202.8(IDS):c.1188del (p.Gln396fs)
|
|
|
NM_000202.8(IDS):c.1191del (p.Met398fs)
|
rs2089308367
|
|
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.1221del (p.Thr409fs)
|
rs2089308131
|
|
NM_000202.8(IDS):c.1224dup (p.Thr409fs)
|
rs2123995054
|
|
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.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.1272del (p.Pro425fs)
|
rs2123994828
|
|
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr)
|
|
|
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys)
|
|
|
NM_000202.8(IDS):c.1316del (p.Leu439fs)
|
rs2123994709
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
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.134A>G (p.Asp45Gly)
|
|
|
NM_000202.8(IDS):c.1350del (p.Pro451fs)
|
rs2089306467
|
|
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs)
|
rs2089306333
|
|
NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter)
|
|
|
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.138C>A (p.Asp46Glu)
|
|
|
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)
|
rs864622772
|
|
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.1425G>A (p.Trp475Ter)
|
rs199422230
|
|
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del)
|
rs2089305217
|
|
NM_000202.8(IDS):c.1431del (p.Asp478fs)
|
rs2089305275
|
|
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly)
|
rs864622773
|
|
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs)
|
rs2089305109
|
|
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
|
|
|
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs)
|
rs2089305017
|
|
NM_000202.8(IDS):c.1463del (p.Met488fs)
|
rs869025307
|
|
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.1491_1492dup (p.Arg498fs)
|
rs2089304532
|
|
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)
|
rs2089304408
|
|
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.1508T>A (p.Val503Asp)
|
rs398123248
|
|
NM_000202.8(IDS):c.152_236del (p.Leu51fs)
|
rs2124065699
|
|
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)
|
rs2124648301
|
|
NM_000202.8(IDS):c.1561dup (p.Glu521fs)
|
rs2124648304
|
|
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.162T>A (p.Tyr54Ter)
|
rs141088021
|
|
NM_000202.8(IDS):c.172del (p.Leu58fs)
|
|
|
NM_000202.8(IDS):c.181T>C (p.Ser61Pro)
|
rs113993955
|
|
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.212G>A (p.Ser71Asn)
|
rs113993954
|
|
NM_000202.8(IDS):c.223C>T (p.Gln75Ter)
|
rs2089503778
|
|
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
|
|
|
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+2T>C
|
|
|
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA
|
rs2089503537
|
|
NM_000202.8(IDS):c.241-2A>G
|
|
|
NM_000202.8(IDS):c.241-5A>T
|
rs113993952
|
|
NM_000202.8(IDS):c.241-9C>G
|
rs2089497858
|
|
NM_000202.8(IDS):c.241C>T (p.Gln81Ter)
|
|
|
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.262C>T (p.Arg88Cys)
|
rs398123249
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.283A>T (p.Arg95Trp)
|
rs2089497268
|
|
NM_000202.8(IDS):c.305T>C (p.Leu102Pro)
|
rs1557340261
|
|
NM_000202.8(IDS):c.305del (p.Leu102fs)
|
rs2089496744
|
|
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.349_351del (p.Ser117del)
|
rs483352905
|
|
NM_000202.8(IDS):c.359C>A (p.Pro120His)
|
rs193302911
|
|
NM_000202.8(IDS):c.361C>T (p.Gln121Ter)
|
rs2124063075
|
|
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.418+1G>C
|
rs1602748255
|
|
NM_000202.8(IDS):c.418+2T>C
|
rs2124062810
|
|
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs)
|
rs1602750400
|
|
NM_000202.8(IDS):c.[1411G>C;1418C>T]
|
|
|