NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys)
|
rs782190885
|
0.00001
|
NM_000202.8(IDS):c.104-2A>G
|
rs2089505773
|
|
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)
|
|
|
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
|
rs2089505317
|
|
NM_000202.8(IDS):c.121_123del (p.Leu41del)
|
rs2124066296
|
|
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter)
|
rs2123994961
|
|
NM_000202.8(IDS):c.1254del (p.Pro419fs)
|
rs2123994946
|
|
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.133G>C (p.Asp45His)
|
rs869025301
|
|
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)
|
|
|
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr)
|
rs2089504816
|
|
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)
|
rs2123994508
|
|
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg)
|
rs1602725808
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu)
|
rs2123994360
|
|
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu)
|
rs2089305403
|
|
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs)
|
rs2123994213
|
|
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.1442delinsTC (p.Ser481fs)
|
rs2123994237
|
|
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys)
|
rs782430567
|
|
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro)
|
rs782347729
|
|
NM_000202.8(IDS):c.1494del (p.Arg498fs)
|
|
|
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)
|
rs2089304297
|
|
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp)
|
rs1602725543
|
|
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)
|
rs2089303696
|
|
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)
|
rs886044837
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)
|
rs2124065847
|
|
NM_000202.8(IDS):c.212G>T (p.Ser71Ile)
|
rs113993954
|
|
NM_000202.8(IDS):c.241-3C>G
|
rs2124063783
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
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.285_287del (p.Arg96del)
|
|
|
NM_000202.8(IDS):c.292del (p.Asp98fs)
|
|
|
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)
|
|
|
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
|
rs2124063287
|
|
NM_000202.8(IDS):c.341del (p.Gly114fs)
|
|
|
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
|
|
|
NM_000202.8(IDS):c.356del (p.Ile119fs)
|
rs2124063133
|
|
NM_000202.8(IDS):c.359C>G (p.Pro120Arg)
|
rs193302911
|
|
NM_000202.8(IDS):c.369_372del (p.Phe123fs)
|
|
|
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)
|
rs104894861
|
|