NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000022.4(ADA):c.221G>T (p.Gly74Val)
|
rs199422328
|
0.00009
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000022.4(ADA):c.757C>T (p.Arg253Trp)
|
rs201944717
|
0.00005
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
NM_000022.4(ADA):c.247G>A (p.Ala83Thr)
|
rs776103734
|
0.00001
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
|
rs1233957241
|
0.00001
|
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)
|
rs121908733
|
0.00001
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)
|
rs121908727
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.678+5G>C
|
rs763478578
|
0.00001
|
NM_000022.4(ADA):c.780+1G>A
|
rs746052951
|
0.00001
|
NM_000022.4(ADA):c.845+1G>C
|
rs766590645
|
0.00001
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
NC_000020.10:g.(?_43255077)_(43264949_?)dup
|
|
|
NC_000020.11:g.(?_44636217)_(44636298_?)dup
|
|
|
NM_000022.3(ADA):c.[780+1G>A];[986C>T]
|
|
|
NM_000022.4(ADA):c.1078+1G>A
|
|
|
NM_000022.4(ADA):c.1078+2T>A
|
rs1555843178
|
|
NM_000022.4(ADA):c.1078+2T>C
|
|
|
NM_000022.4(ADA):c.219-1G>A
|
rs751147673
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.220G>T (p.Gly74Cys)
|
rs121908730
|
|
NM_000022.4(ADA):c.221G>A (p.Gly74Asp)
|
|
|
NM_000022.4(ADA):c.293del (p.Val98fs)
|
|
|
NM_000022.4(ADA):c.301C>G (p.Arg101Gly)
|
rs121908717
|
|
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)
|
rs1452483770
|
|
NM_000022.4(ADA):c.322del (p.Ala108fs)
|
|
|
NM_000022.4(ADA):c.355dup (p.Gln119fs)
|
|
|
NM_000022.4(ADA):c.362+5_362+8del
|
rs763595926
|
|
NM_000022.4(ADA):c.363-1G>T
|
|
|
NM_000022.4(ADA):c.363-2A>G
|
rs2145318314
|
|
NM_000022.4(ADA):c.363-2A>T
|
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.383_404dup (p.Leu137fs)
|
rs1555844616
|
|
NM_000022.4(ADA):c.385G>A (p.Val129Met)
|
rs121908731
|
|
NM_000022.4(ADA):c.385G>T (p.Val129Leu)
|
rs121908731
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.407del (p.Gly136fs)
|
|
|
NM_000022.4(ADA):c.410del (p.Leu137fs)
|
|
|
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
|
|
|
NM_000022.4(ADA):c.455T>C (p.Leu152Pro)
|
rs1568845361
|
|
NM_000022.4(ADA):c.460T>C (p.Cys154Arg)
|
|
|
NM_000022.4(ADA):c.467G>C (p.Arg156Pro)
|
rs121908722
|
|
NM_000022.4(ADA):c.478+1G>C
|
|
|
NM_000022.4(ADA):c.478+6T>C
|
rs1555844600
|
|
NM_000022.4(ADA):c.479-23_479-2delinsTGGGACCAGCAT
|
|
|
NM_000022.4(ADA):c.479-2del
|
rs1600921786
|
|
NM_000022.4(ADA):c.511A>T (p.Lys171Ter)
|
rs2065361731
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.556G>A (p.Glu186Lys)
|
rs1555844416
|
|
NM_000022.4(ADA):c.577dup (p.Leu193fs)
|
rs759445496
|
|
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)
|
rs1555844395
|
|
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)
|
rs1555844395
|
|
NM_000022.4(ADA):c.606+1G>T
|
|
|
NM_000022.4(ADA):c.622_632del (p.Gly208fs)
|
|
|
NM_000022.4(ADA):c.631C>A (p.Arg211Ser)
|
|
|
NM_000022.4(ADA):c.674_675del (p.Lys225fs)
|
|
|
NM_000022.4(ADA):c.678+2T>C
|
|
|
NM_000022.4(ADA):c.679-2A>G
|
|
|
NM_000022.4(ADA):c.690dup (p.Leu231fs)
|
rs2065346614
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)
|
rs1312320956
|
|
NM_000022.4(ADA):c.755_756insTG (p.Arg253fs)
|
|
|
NM_000022.4(ADA):c.763G>T (p.Glu255Ter)
|
rs2123517896
|
|
NM_000022.4(ADA):c.767del (p.Asn256fs)
|
rs2123517868
|
|
NM_000022.4(ADA):c.780+1del
|
rs2123517791
|
|
NM_000022.4(ADA):c.781-1G>T
|
|
|
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)
|
rs757796081
|
|
NM_000022.4(ADA):c.790del (p.Trp264fs)
|
rs1555844006
|
|
NM_000022.4(ADA):c.791G>A (p.Trp264Ter)
|
rs2065342571
|
|
NM_000022.4(ADA):c.813_814insAC (p.Trp272fs)
|
|
|
NM_000022.4(ADA):c.829del (p.Glu277fs)
|
|
|
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
|
|
|
NM_000022.4(ADA):c.854dup (p.Asn285fs)
|
rs2123511347
|
|
NM_000022.4(ADA):c.859C>T (p.Gln287Ter)
|
rs2065327852
|
|
NM_000022.4(ADA):c.872C>G (p.Ser291Trp)
|
rs121908721
|
|
NM_000022.4(ADA):c.877_878delinsT (p.Asn293fs)
|
|
|
NM_000022.4(ADA):c.890C>T (p.Pro297Leu)
|
rs121908718
|
|
NM_000022.4(ADA):c.906_915delinsTGTTACCAGATTACCAGATG (p.Thr303fs)
|
|
|
NM_000022.4(ADA):c.946_947insTGTT (p.Gly316fs)
|
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000022.4(ADA):c.976-1_979del
|
rs1441174171
|
|
NM_000022.4(ADA):c.976-34G>A
|
rs1194494050
|
|
NM_000022.4(ADA):c.993dup (p.Ser332fs)
|
|
|