NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys)
|
rs781825818
|
0.00002
|
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
|
rs782475200
|
0.00001
|
NM_000202.8(IDS):c.1483A>G (p.Ile495Val)
|
rs782228221
|
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_?)dup
|
|
|
NC_000023.10:g.(?_148564277)_(148564769_?)dup
|
|
|
NC_000023.10:g.(?_148564277)_(148586667_?)dup
|
|
|
NC_000023.10:g.(?_148579628)_(148579848_?)dup
|
|
|
NC_000023.10:g.(?_148582460)_(148586667_?)dup
|
|
|
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
|
|
|
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
|
|
|
NM_000202.8(IDS):c.116T>A (p.Val39Asp)
|
|
|
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
|
|
|
NM_000202.8(IDS):c.119T>C (p.Leu40Pro)
|
|
|
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
|
|
|
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
|
|
|
NM_000202.8(IDS):c.121_123del (p.Leu41del)
|
rs2124066296
|
|
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
|
rs2089505177
|
|
NM_000202.8(IDS):c.1253T>C (p.Val418Ala)
|
|
|
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
|
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
|
|
|
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
|
|
|
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
|
|
|
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu)
|
rs2123994624
|
|
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
|
|
|
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
|
|
|
NM_000202.8(IDS):c.1387T>C (p.Tyr463His)
|
rs1365886210
|
|
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
|
|
|
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu)
|
rs1602725808
|
|
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)
|
|
|
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
|
|
|
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)
|
rs2123994315
|
|
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
|
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu)
|
rs2123994225
|
|
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala)
|
rs104894863
|
|
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
|
|
|
NM_000202.8(IDS):c.1494del (p.Arg498fs)
|
|
|
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
|
|
|
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
|
|
|
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
|
|
|
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
|
|
|
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.166G>A (p.Asp56Asn)
|
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
|
|
|
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
|
|
|
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
|
|
|
NM_000202.8(IDS):c.236C>T (p.Ala79Val)
|
rs368513342
|
|
NM_000202.8(IDS):c.240+3A>G
|
rs2124065632
|
|
NM_000202.8(IDS):c.241-4A>G
|
|
|
NM_000202.8(IDS):c.248T>G (p.Val83Gly)
|
rs1569560525
|
|
NM_000202.8(IDS):c.331G>C (p.Val111Leu)
|
rs1602748386
|
|
NM_000202.8(IDS):c.337G>A (p.Ala113Thr)
|
|
|
NM_000202.8(IDS):c.346T>G (p.Phe116Val)
|
rs2124063192
|
|
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
|
|
|
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.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.98C>T (p.Thr33Ile)
|
|
|