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.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
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.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
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.845+1G>C
|
rs766590645
|
0.00001
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
|
|
|
NC_000020.10:g.(?_43248475)_(43280248_?)del
|
|
|
NC_000020.10:g.(?_43248920)_(43264949_?)del
|
|
|
NC_000020.10:g.(?_43251625)_(43255215_?)del
|
|
|
NC_000020.10:g.(?_43252823)_(43255260_?)del
|
|
|
NC_000020.10:g.(?_43264848)_(43264949_?)del
|
|
|
NC_000020.10:g.(?_43264848)_(43265101_?)del
|
|
|
NC_000020.10:g.(?_43280112)_(43280248_?)del
|
|
|
NC_000020.11:g.(?_44636217)_(44636298_?)del
|
|
|
NM_000022.2(ADA):c.[290A>G;316C>G]
|
|
|
NM_000022.4(ADA):c.1009G>T (p.Glu337Ter)
|
|
|
NM_000022.4(ADA):c.1018_1019del (p.Lys340fs)
|
|
|
NM_000022.4(ADA):c.1019del (p.Lys340fs)
|
|
|
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)
|
rs2065317387
|
|
NM_000022.4(ADA):c.1024G>T (p.Glu342Ter)
|
rs2123507871
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)
|
rs121908714
|
|
NM_000022.4(ADA):c.302G>T (p.Arg101Leu)
|
rs121908714
|
|
NM_000022.4(ADA):c.306C>G (p.Tyr102Ter)
|
rs149520391
|
|
NM_000022.4(ADA):c.307del (p.Ser103fs)
|
|
|
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)
|
rs1452483770
|
|
NM_000022.4(ADA):c.337G>T (p.Glu113Ter)
|
rs1275500780
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.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.394del (p.Ala131_Leu132insTer)
|
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
|
|
|
NM_000022.4(ADA):c.421G>T (p.Glu141Ter)
|
rs1199690825
|
|
NM_000022.4(ADA):c.447del (p.Ser150fs)
|
|
|
NM_000022.4(ADA):c.467G>T (p.Arg156Leu)
|
rs121908722
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
|
|
|
NM_000022.4(ADA):c.507dup (p.Lys170Ter)
|
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
NM_000022.4(ADA):c.517del (p.Gln173fs)
|
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.532dup (p.Val178fs)
|
rs886041796
|
|
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.645_648dup (p.Glu217fs)
|
rs2065348171
|
|
NM_000022.4(ADA):c.690dup (p.Leu231fs)
|
rs2065346614
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
NM_000022.4(ADA):c.705del (p.Leu236fs)
|
rs1225623204
|
|
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)
|
rs1312320956
|
|
NM_000022.4(ADA):c.736C>T (p.Gln246Ter)
|
rs1555844120
|
|
NM_000022.4(ADA):c.760C>T (p.Gln254Ter)
|
rs2065345592
|
|
NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG
|
rs2123516908
|
|
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)
|
rs757796081
|
|
NM_000022.4(ADA):c.815G>A (p.Trp272Ter)
|
|
|
NM_000022.4(ADA):c.845+2T>C
|
rs2123516572
|
|
NM_000022.4(ADA):c.854dup (p.Asn285fs)
|
rs2123511347
|
|
NM_000022.4(ADA):c.859_877dup (p.Asn293delinsThrGlyTer)
|
|
|
NM_000022.4(ADA):c.870C>A (p.Tyr290Ter)
|
rs2065327638
|
|
NM_000022.4(ADA):c.879_898del (p.Thr294fs)
|
rs2065327187
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000022.4(ADA):c.970del (p.Arg324fs)
|
rs2065325961
|
|
NM_000022.4(ADA):c.975+1G>A
|
rs2065325898
|
|
NM_000022.4(ADA):c.975+2T>C
|
|
|
NM_000022.4(ADA):c.975+2T>G
|
|
|
NM_000022.4(ADA):c.976-1G>C
|
|
|
NM_000022.4(ADA):c.976-2A>G
|
|
|
NM_000022.4(ADA):c.996_997del (p.Ser333fs)
|
rs2123508053
|
|
NM_000022.4(ADA):c.[455T>C;478+6T>C]
|
|
|