NM_000022.4(ADA):c.36G>A (p.Val12=)
|
rs394105
|
0.98470
|
NM_000022.4(ADA):c.95+165A>G
|
rs967807
|
0.90213
|
NM_000022.4(ADA):c.534A>G (p.Val178=)
|
rs244076
|
0.24494
|
NM_000022.4(ADA):c.607-48C>T
|
rs929089
|
0.13138
|
NM_000022.4(ADA):c.780+36G>A
|
rs6031679
|
0.08474
|
NM_000022.4(ADA):c.1078+87A>G
|
rs45567037
|
0.07559
|
NM_000022.4(ADA):c.1078+99C>T
|
rs45567734
|
0.07507
|
NM_000022.4(ADA):c.975+68G>A
|
rs6031678
|
0.07197
|
NM_000022.4(ADA):c.239A>G (p.Lys80Arg)
|
rs11555566
|
0.05947
|
NM_000022.3(ADA):c.-101G>A
|
rs36216718
|
0.04373
|
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)
|
rs73598374
|
0.04175
|
NM_000022.4(ADA):c.390G>A (p.Val130=)
|
rs61737144
|
0.04145
|
NM_000022.4(ADA):c.36= (p.Val12=)
|
rs394105
|
0.01530
|
NM_000022.4(ADA):c.834T>C (p.His278=)
|
rs116962828
|
0.00639
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_000022.4(ADA):c.95+9A>G
|
rs765216
|
0.00319
|
NM_000022.4(ADA):c.162G>A (p.Lys54=)
|
rs45557242
|
0.00282
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
NM_000022.4(ADA):c.110C>T (p.Ala37Val)
|
rs151336936
|
0.00150
|
NM_000022.4(ADA):c.*4C>T
|
rs183914222
|
0.00090
|
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)
|
rs121908736
|
0.00081
|
NM_000022.4(ADA):c.606+10G>A
|
rs201045221
|
0.00058
|
NM_000022.4(ADA):c.*282C>T
|
rs188755077
|
0.00055
|
NM_000022.4(ADA):c.660G>A (p.Ser220=)
|
rs147038410
|
0.00041
|
NM_000022.4(ADA):c.384G>A (p.Glu128=)
|
rs572092463
|
0.00030
|
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)
|
rs114025668
|
0.00030
|
NM_000022.4(ADA):c.975+8G>A
|
rs192148185
|
0.00029
|
NM_000022.4(ADA):c.770T>C (p.Met257Thr)
|
rs145863450
|
0.00025
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000022.4(ADA):c.758G>A (p.Arg253Gln)
|
rs148994526
|
0.00019
|
NM_000022.4(ADA):c.930G>A (p.Met310Ile)
|
rs145924854
|
0.00019
|
NM_000022.4(ADA):c.780+7G>A
|
rs371862936
|
0.00017
|
NM_000022.3(ADA):c.-123G>A
|
rs997075639
|
0.00016
|
NM_000022.4(ADA):c.219-13C>T
|
rs371326273
|
0.00016
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
NM_000022.4(ADA):c.864T>G (p.Ala288=)
|
rs146614184
|
0.00014
|
NM_000022.4(ADA):c.827C>T (p.Thr276Met)
|
rs756480576
|
0.00013
|
NM_000022.4(ADA):c.664G>A (p.Glu222Lys)
|
rs371353841
|
0.00011
|
NM_000022.4(ADA):c.192G>A (p.Lys64=)
|
rs144168646
|
0.00009
|
NM_000022.4(ADA):c.221G>T (p.Gly74Val)
|
rs199422328
|
0.00009
|
NM_000022.4(ADA):c.57C>T (p.Asp19=)
|
rs762695968
|
0.00009
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000022.4(ADA):c.714C>T (p.His238=)
|
rs577317154
|
0.00009
|
NM_000022.4(ADA):c.855T>C (p.Asn285=)
|
rs374601935
|
0.00008
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)
|
rs121908738
|
0.00007
|
NM_000022.4(ADA):c.375C>G (p.Thr125=)
|
rs766539394
|
0.00006
|
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)
|
rs121908737
|
0.00006
|
NM_000022.4(ADA):c.61T>G (p.Ser21Ala)
|
rs139350872
|
0.00006
|
NM_000022.4(ADA):c.621C>T (p.Ser207=)
|
rs373256688
|
0.00006
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000022.4(ADA):c.844C>T (p.Arg282Trp)
|
rs559798694
|
0.00006
|
NM_000022.4(ADA):c.927G>A (p.Gln309=)
|
rs139871719
|
0.00006
|
NM_000022.4(ADA):c.937C>A (p.Arg313=)
|
rs79249850
|
0.00006
|
NM_000022.4(ADA):c.381C>T (p.Asp127=)
|
rs7344760
|
0.00005
|
NM_000022.4(ADA):c.479-8G>A
|
rs754077913
|
0.00005
|
NM_000022.4(ADA):c.679-6C>T
|
rs375562913
|
0.00005
|
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.934A>C (p.Lys312Gln)
|
rs530131290
|
0.00005
|
NM_000022.4(ADA):c.1079-6G>A
|
rs367991521
|
0.00004
|
NM_000022.4(ADA):c.179A>G (p.Asp60Gly)
|
rs760262095
|
0.00004
|
NM_000022.4(ADA):c.21C>T (p.Phe7=)
|
rs925528695
|
0.00004
|
NM_000022.4(ADA):c.260T>C (p.Val87Ala)
|
rs778994749
|
0.00004
|
NM_000022.4(ADA):c.525G>A (p.Gln175=)
|
rs769506264
|
0.00004
|
NM_000022.4(ADA):c.528C>T (p.Thr176=)
|
rs780518207
|
0.00004
|
NM_000022.4(ADA):c.642C>T (p.His214=)
|
rs562055008
|
0.00004
|
NM_000022.4(ADA):c.663C>T (p.Ala221=)
|
rs553639716
|
0.00004
|
NM_000022.4(ADA):c.891G>A (p.Pro297=)
|
rs776360146
|
0.00004
|
NM_000022.4(ADA):c.96-4C>T
|
rs764177495
|
0.00004
|
NM_000022.4(ADA):c.975+14A>G
|
rs200660399
|
0.00004
|
NM_000022.4(ADA):c.1065T>C (p.Pro355=)
|
rs371814756
|
0.00003
|
NM_000022.4(ADA):c.1079-7C>T
|
rs551934402
|
0.00003
|
NM_000022.4(ADA):c.227G>A (p.Arg76Gln)
|
rs374983783
|
0.00003
|
NM_000022.4(ADA):c.362+4A>G
|
rs370857405
|
0.00003
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
NM_000022.4(ADA):c.508A>G (p.Lys170Glu)
|
rs371134570
|
0.00003
|
NM_000022.4(ADA):c.578T>A (p.Leu193His)
|
rs767083081
|
0.00003
|
NM_000022.4(ADA):c.622G>A (p.Gly208Ser)
|
rs761846813
|
0.00003
|
NM_000022.4(ADA):c.684G>A (p.Val228=)
|
rs1047697626
|
0.00003
|
NM_000022.4(ADA):c.6C>T (p.Ala2=)
|
rs767788896
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000022.4(ADA):c.739G>A (p.Ala247Thr)
|
rs754578956
|
0.00003
|
NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG
|
rs781605283
|
0.00003
|
NM_000022.4(ADA):c.873G>A (p.Ser291=)
|
rs143236074
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000022.4(ADA):c.89A>G (p.Tyr30Cys)
|
rs759080719
|
0.00003
|
NM_000022.4(ADA):c.976-4C>T
|
rs757375351
|
0.00003
|
NM_000022.4(ADA):c.992A>C (p.Lys331Thr)
|
rs372131830
|
0.00003
|
NM_000022.4(ADA):c.*162G>A
|
rs901060573
|
0.00002
|
NM_000022.4(ADA):c.1032C>T (p.Leu344=)
|
rs746337420
|
0.00002
|
NM_000022.4(ADA):c.111C>T (p.Ala37=)
|
rs374029074
|
0.00002
|
NM_000022.4(ADA):c.144C>T (p.Asn48=)
|
rs189751145
|
0.00002
|
NM_000022.4(ADA):c.246C>T (p.Ile82=)
|
rs761045374
|
0.00002
|
NM_000022.4(ADA):c.282C>T (p.Gly94=)
|
rs771207375
|
0.00002
|
NM_000022.4(ADA):c.283G>A (p.Val95Met)
|
rs145963969
|
0.00002
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00002
|
NM_000022.4(ADA):c.363-8T>G
|
rs1015455929
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000022.4(ADA):c.45T>C (p.His15=)
|
rs906269498
|
0.00002
|
NM_000022.4(ADA):c.471C>T (p.His157=)
|
rs752094197
|
0.00002
|
NM_000022.4(ADA):c.478+7A>G
|
rs750462837
|
0.00002
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
NM_000022.4(ADA):c.608A>C (p.Glu203Ala)
|
rs200089190
|
0.00002
|
NM_000022.4(ADA):c.618G>T (p.Lys206Asn)
|
rs750364735
|
0.00002
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
NM_000022.4(ADA):c.781-12C>T
|
rs773016155
|
0.00002
|
NM_000022.4(ADA):c.781-9C>T
|
rs769511813
|
0.00002
|
NM_000022.4(ADA):c.831G>T (p.Glu277Asp)
|
rs542229902
|
0.00002
|
NM_000022.4(ADA):c.899T>G (p.Phe300Cys)
|
rs371305751
|
0.00002
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
NM_000022.4(ADA):c.932C>T (p.Thr311Ile)
|
rs773914135
|
0.00002
|
NM_000022.4(ADA):c.*174T>A
|
rs886056706
|
0.00001
|
NM_000022.4(ADA):c.-28G>C
|
rs1186616350
|
0.00001
|
NM_000022.4(ADA):c.-67C>T
|
rs926706024
|
0.00001
|
NM_000022.4(ADA):c.1005C>G (p.Leu335=)
|
rs1455729635
|
0.00001
|
NM_000022.4(ADA):c.1008A>G (p.Pro336=)
|
rs762614678
|
0.00001
|
NM_000022.4(ADA):c.1044T>C (p.Tyr348=)
|
rs1320932911
|
0.00001
|
NM_000022.4(ADA):c.1078+7T>C
|
rs752992685
|
0.00001
|
NM_000022.4(ADA):c.1079-18C>T
|
rs762154117
|
0.00001
|
NM_000022.4(ADA):c.108C>T (p.Ile36=)
|
rs748611869
|
0.00001
|
NM_000022.4(ADA):c.117A>G (p.Pro39=)
|
rs747148184
|
0.00001
|
NM_000022.4(ADA):c.125C>G (p.Thr42Arg)
|
rs780318972
|
0.00001
|
NM_000022.4(ADA):c.145G>A (p.Val49Ile)
|
rs1306348962
|
0.00001
|
NM_000022.4(ADA):c.149T>C (p.Ile50Thr)
|
rs1057460440
|
0.00001
|
NM_000022.4(ADA):c.186G>A (p.Leu62=)
|
rs767064067
|
0.00001
|
NM_000022.4(ADA):c.1A>G (p.Met1Val)
|
rs1363043396
|
0.00001
|
NM_000022.4(ADA):c.216C>T (p.Ile72=)
|
rs769218320
|
0.00001
|
NM_000022.4(ADA):c.217G>A (p.Ala73Thr)
|
rs921477673
|
0.00001
|
NM_000022.4(ADA):c.218+10C>T
|
rs372418784
|
0.00001
|
NM_000022.4(ADA):c.218+1G>A
|
rs528390681
|
0.00001
|
NM_000022.4(ADA):c.247G>A (p.Ala83Thr)
|
rs776103734
|
0.00001
|
NM_000022.4(ADA):c.251A>G (p.Tyr84Cys)
|
rs772021681
|
0.00001
|
NM_000022.4(ADA):c.286G>A (p.Val96Met)
|
rs1316605272
|
0.00001
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.312G>A (p.Pro104=)
|
rs765878819
|
0.00001
|
NM_000022.4(ADA):c.313C>T (p.His105Tyr)
|
rs201522960
|
0.00001
|
NM_000022.4(ADA):c.33+13G>C
|
rs762896507
|
0.00001
|
NM_000022.4(ADA):c.33+3G>A
|
rs774061553
|
0.00001
|
NM_000022.4(ADA):c.33+9G>T
|
rs770723333
|
0.00001
|
NM_000022.4(ADA):c.34-18C>T
|
rs754341978
|
0.00001
|
NM_000022.4(ADA):c.349T>C (p.Trp117Arg)
|
rs771162170
|
0.00001
|
NM_000022.4(ADA):c.363-12C>G
|
rs367574074
|
0.00001
|
NM_000022.4(ADA):c.363-16T>C
|
rs1314647942
|
0.00001
|
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
|
rs1233957241
|
0.00001
|
NM_000022.4(ADA):c.387G>A (p.Val129=)
|
rs1288730009
|
0.00001
|
NM_000022.4(ADA):c.420G>C (p.Gly140=)
|
rs1363673891
|
0.00001
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
0.00001
|
NM_000022.4(ADA):c.432C>T (p.Phe144=)
|
rs374413123
|
0.00001
|
NM_000022.4(ADA):c.43C>G (p.His15Asp)
|
rs121908725
|
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.479-4A>G
|
rs78435059
|
0.00001
|
NM_000022.4(ADA):c.479-9C>T
|
rs761848284
|
0.00001
|
NM_000022.4(ADA):c.500A>G (p.Glu167Gly)
|
rs372671189
|
0.00001
|
NM_000022.4(ADA):c.504G>A (p.Leu168=)
|
rs759425144
|
0.00001
|
NM_000022.4(ADA):c.507T>C (p.Cys169=)
|
rs1784751932
|
0.00001
|
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)
|
rs121908727
|
0.00001
|
NM_000022.4(ADA):c.574A>G (p.Ser192Gly)
|
rs1246778030
|
0.00001
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
NM_000022.4(ADA):c.606+9T>C
|
rs2065360149
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.639C>T (p.Val213=)
|
rs575603724
|
0.00001
|
NM_000022.4(ADA):c.645C>T (p.Ala215=)
|
rs748671151
|
0.00001
|
NM_000022.4(ADA):c.651G>A (p.Glu217=)
|
rs1163524809
|
0.00001
|
NM_000022.4(ADA):c.672A>G (p.Val224=)
|
rs753855163
|
0.00001
|
NM_000022.4(ADA):c.678+5G>C
|
rs763478578
|
0.00001
|
NM_000022.4(ADA):c.679-8C>T
|
rs886056707
|
0.00001
|
NM_000022.4(ADA):c.687C>A (p.Asp229Glu)
|
rs747172905
|
0.00001
|
NM_000022.4(ADA):c.699A>G (p.Thr233=)
|
rs1218317197
|
0.00001
|
NM_000022.4(ADA):c.777C>T (p.Phe259=)
|
rs772309012
|
0.00001
|
NM_000022.4(ADA):c.778G>A (p.Glu260Lys)
|
rs1235719506
|
0.00001
|
NM_000022.4(ADA):c.780+1G>A
|
rs746052951
|
0.00001
|
NM_000022.4(ADA):c.780+6C>T
|
rs774759287
|
0.00001
|
NM_000022.4(ADA):c.781-10G>A
|
rs1428296713
|
0.00001
|
NM_000022.4(ADA):c.781-4C>G
|
rs374812597
|
0.00001
|
NM_000022.4(ADA):c.828G>A (p.Thr276=)
|
rs1269140539
|
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
|
NM_000022.4(ADA):c.902A>G (p.Lys301Arg)
|
rs1416109540
|
0.00001
|
NM_000022.4(ADA):c.935A>G (p.Lys312Arg)
|
rs748974674
|
0.00001
|
NM_000022.4(ADA):c.938G>A (p.Arg313Gln)
|
rs747500864
|
0.00001
|
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00001
|
NM_000022.4(ADA):c.942C>T (p.Asp314=)
|
rs1398609180
|
0.00001
|
NM_000022.4(ADA):c.944T>C (p.Met315Thr)
|
rs758501653
|
0.00001
|
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
|
|
|
NC_000020.10:g.(?_43248475)_(43280248_?)del
|
|
|
NC_000020.10:g.(?_43251625)_(43255215_?)del
|
|
|
NC_000020.10:g.(?_43252823)_(43255260_?)del
|
|
|
NC_000020.10:g.(?_43255077)_(43264949_?)dup
|
|
|
NC_000020.10:g.(?_43257668)_(43257830_?)del
|
|
|
NC_000020.10:g.(?_43264848)_(43264949_?)del
|
|
|
NC_000020.11:g.(?_44636217)_(44636298_?)del
|
|
|
NC_000020.11:g.(?_44636217)_(44636298_?)dup
|
|
|
NC_000020.11:g.(?_44651555)_(44651627_?)del
|
|
|
NC_000020.11:g.44649961_44653216del
|
|
|
NM_000022.2(ADA):c.[290A>G;316C>G]
|
|
|
NM_000022.3(ADA):c.[780+1G>A];[986C>T]
|
|
|
NM_000022.4(ADA):c.*152C>T
|
rs560858565
|
|
NM_000022.4(ADA):c.*173G>C
|
rs11906526
|
|
NM_000022.4(ADA):c.-10C>G
|
rs886056709
|
|
NM_000022.4(ADA):c.1009G>A (p.Glu337Lys)
|
|
|
NM_000022.4(ADA):c.1009G>T (p.Glu337Ter)
|
|
|
NM_000022.4(ADA):c.1011A>G (p.Glu337=)
|
|
|
NM_000022.4(ADA):c.1018_1019del (p.Lys340fs)
|
|
|
NM_000022.4(ADA):c.1019del (p.Lys340fs)
|
|
|
NM_000022.4(ADA):c.1020G>A (p.Lys340=)
|
rs761572884
|
|
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)
|
rs2065317387
|
|
NM_000022.4(ADA):c.1023G>A (p.Arg341=)
|
|
|
NM_000022.4(ADA):c.1024G>T (p.Glu342Ter)
|
rs2123507871
|
|
NM_000022.4(ADA):c.1026G>A (p.Glu342=)
|
|
|
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr)
|
rs779530705
|
|
NM_000022.4(ADA):c.1035C>T (p.Asp345=)
|
|
|
NM_000022.4(ADA):c.1037del (p.Leu346fs)
|
|
|
NM_000022.4(ADA):c.1038G>A (p.Leu346=)
|
rs2123507798
|
|
NM_000022.4(ADA):c.103G>C (p.Gly35Arg)
|
|
|
NM_000022.4(ADA):c.1040_1041insAT (p.Tyr348fs)
|
rs2123507789
|
|
NM_000022.4(ADA):c.1051dup (p.Tyr351fs)
|
|
|
NM_000022.4(ADA):c.1054G>A (p.Gly352Arg)
|
rs2065316932
|
|
NM_000022.4(ADA):c.1058T>A (p.Met353Lys)
|
|
|
NM_000022.4(ADA):c.1060C>T (p.Pro354Ser)
|
rs2123507717
|
|
NM_000022.4(ADA):c.1075G>T (p.Ala359Ser)
|
|
|
NM_000022.4(ADA):c.1077A>T (p.Ala359=)
|
rs2065316590
|
|
NM_000022.4(ADA):c.1078+14T>A
|
|
|
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.1078+8C>G
|
|
|
NM_000022.4(ADA):c.1079-12A>G
|
|
|
NM_000022.4(ADA):c.1079-14G>A
|
|
|
NM_000022.4(ADA):c.1079-15T>A
|
rs387906268
|
|
NM_000022.4(ADA):c.1079-16C>T
|
|
|
NM_000022.4(ADA):c.1079-20T>C
|
|
|
NM_000022.4(ADA):c.1079-7C>A
|
|
|
NM_000022.4(ADA):c.1089C>T (p.Leu363=)
|
rs375339591
|
|
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer)
|
rs1555843039
|
|
NM_000022.4(ADA):c.109G>A (p.Ala37Thr)
|
|
|
NM_000022.4(ADA):c.115C>G (p.Pro39Ala)
|
rs2065409743
|
|
NM_000022.4(ADA):c.126A>G (p.Thr42=)
|
|
|
NM_000022.4(ADA):c.12G>T (p.Thr4=)
|
|
|
NM_000022.4(ADA):c.132G>A (p.Glu44=)
|
|
|
NM_000022.4(ADA):c.135G>A (p.Gly45=)
|
rs2065409509
|
|
NM_000022.4(ADA):c.135G>C (p.Gly45=)
|
|
|
NM_000022.4(ADA):c.138G>A (p.Leu46=)
|
|
|
NM_000022.4(ADA):c.141G>A (p.Leu47=)
|
|
|
NM_000022.4(ADA):c.141_142del (p.Asn48fs)
|
|
|
NM_000022.4(ADA):c.150T>C (p.Ile50=)
|
|
|
NM_000022.4(ADA):c.153C>T (p.Gly51=)
|
|
|
NM_000022.4(ADA):c.154A>T (p.Met52Leu)
|
rs2065409254
|
|
NM_000022.4(ADA):c.159C>T (p.Asp53=)
|
|
|
NM_000022.4(ADA):c.15C>A (p.Pro5=)
|
|
|
NM_000022.4(ADA):c.15C>G (p.Pro5=)
|
rs1377009879
|
|
NM_000022.4(ADA):c.15C>T (p.Pro5=)
|
|
|
NM_000022.4(ADA):c.165G>A (p.Pro55=)
|
rs764188731
|
|
NM_000022.4(ADA):c.165G>T (p.Pro55=)
|
rs764188731
|
|
NM_000022.4(ADA):c.168C>T (p.Leu56=)
|
|
|
NM_000022.4(ADA):c.16G>T (p.Ala6Ser)
|
|
|
NM_000022.4(ADA):c.177A>T (p.Pro59=)
|
rs2145324680
|
|
NM_000022.4(ADA):c.184C>T (p.Leu62=)
|
|
|
NM_000022.4(ADA):c.187del (p.Ala63fs)
|
|
|
NM_000022.4(ADA):c.190A>G (p.Lys64Glu)
|
|
|
NM_000022.4(ADA):c.19T>C (p.Phe7Leu)
|
|
|
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)
|
rs1419063255
|
|
NM_000022.4(ADA):c.201C>T (p.Tyr67=)
|
rs1419063255
|
|
NM_000022.4(ADA):c.210T>C (p.Pro70=)
|
|
|
NM_000022.4(ADA):c.214A>G (p.Ile72Val)
|
|
|
NM_000022.4(ADA):c.218+10C>A
|
rs372418784
|
|
NM_000022.4(ADA):c.218+11C>T
|
|
|
NM_000022.4(ADA):c.218+14A>C
|
|
|
NM_000022.4(ADA):c.218+15A>G
|
|
|
NM_000022.4(ADA):c.218+17C>G
|
rs2145324527
|
|
NM_000022.4(ADA):c.218+17C>T
|
|
|
NM_000022.4(ADA):c.218+1G>T
|
|
|
NM_000022.4(ADA):c.218+20C>T
|
|
|
NM_000022.4(ADA):c.218+2T>G
|
rs1555845120
|
|
NM_000022.4(ADA):c.218+2dup
|
rs1555845122
|
|
NM_000022.4(ADA):c.218C>T (p.Ala73Val)
|
|
|
NM_000022.4(ADA):c.219-10C>T
|
|
|
NM_000022.4(ADA):c.219-16T>G
|
|
|
NM_000022.4(ADA):c.219-17C>T
|
|
|
NM_000022.4(ADA):c.219-1G>A
|
rs751147673
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.219-8C>T
|
rs2065385208
|
|
NM_000022.4(ADA):c.219-9C>T
|
|
|
NM_000022.4(ADA):c.219G>A (p.Ala73=)
|
rs2145320070
|
|
NM_000022.4(ADA):c.220G>T (p.Gly74Cys)
|
rs121908730
|
|
NM_000022.4(ADA):c.221G>A (p.Gly74Asp)
|
|
|
NM_000022.4(ADA):c.222C>A (p.Gly74=)
|
rs2145320054
|
|
NM_000022.4(ADA):c.224G>A (p.Cys75Tyr)
|
rs2065385037
|
|
NM_000022.4(ADA):c.225C>G (p.Cys75Trp)
|
rs2065384997
|
|
NM_000022.4(ADA):c.225C>T (p.Cys75=)
|
|
|
NM_000022.4(ADA):c.234T>C (p.Ala78=)
|
rs2145320017
|
|
NM_000022.4(ADA):c.248C>A (p.Ala83Asp)
|
rs121908726
|
|
NM_000022.4(ADA):c.248C>G (p.Ala83Gly)
|
rs121908726
|
|
NM_000022.4(ADA):c.252T>C (p.Tyr84=)
|
rs372137742
|
|
NM_000022.4(ADA):c.255G>A (p.Glu85=)
|
rs2145319943
|
|
NM_000022.4(ADA):c.272C>T (p.Ala91Val)
|
rs2065384431
|
|
NM_000022.4(ADA):c.279G>A (p.Glu93=)
|
|
|
NM_000022.4(ADA):c.281G>A (p.Gly94Asp)
|
|
|
NM_000022.4(ADA):c.282C>G (p.Gly94=)
|
rs771207375
|
|
NM_000022.4(ADA):c.288G>A (p.Val96=)
|
|
|
NM_000022.4(ADA):c.291T>C (p.Tyr97=)
|
rs2065384066
|
|
NM_000022.4(ADA):c.293del (p.Val98fs)
|
|
|
NM_000022.4(ADA):c.298G>A (p.Val100Met)
|
rs1386689344
|
|
NM_000022.4(ADA):c.2T>G (p.Met1Arg)
|
|
|
NM_000022.4(ADA):c.301C>G (p.Arg101Gly)
|
rs121908717
|
|
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.303G>C (p.Arg101=)
|
rs1452724917
|
|
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.315C>T (p.His105=)
|
|
|
NM_000022.4(ADA):c.322del (p.Ala108fs)
|
|
|
NM_000022.4(ADA):c.324C>T (p.Ala108=)
|
|
|
NM_000022.4(ADA):c.33+10C>G
|
|
|
NM_000022.4(ADA):c.33+12C>G
|
|
|
NM_000022.4(ADA):c.33+13G>A
|
|
|
NM_000022.4(ADA):c.33+17G>A
|
|
|
NM_000022.4(ADA):c.33+17G>T
|
|
|
NM_000022.4(ADA):c.33+17dup
|
rs1246752878
|
|
NM_000022.4(ADA):c.33+1G>A
|
rs587776534
|
|
NM_000022.4(ADA):c.33+1G>C
|
rs587776534
|
|
NM_000022.4(ADA):c.33+2_33+104del
|
rs2145366792
|
|
NM_000022.4(ADA):c.33+8C>T
|
|
|
NM_000022.4(ADA):c.331A>G (p.Lys111Glu)
|
|
|
NM_000022.4(ADA):c.337G>T (p.Glu113Ter)
|
rs1275500780
|
|
NM_000022.4(ADA):c.34-10C>T
|
|
|
NM_000022.4(ADA):c.34-11_55del
|
rs1230022655
|
|
NM_000022.4(ADA):c.34-12G>A
|
|
|
NM_000022.4(ADA):c.34-16C>T
|
|
|
NM_000022.4(ADA):c.34-20T>C
|
|
|
NM_000022.4(ADA):c.34-29CT[3]
|
|
|
NM_000022.4(ADA):c.34-6T>C
|
rs1251733870
|
|
NM_000022.4(ADA):c.34-7del
|
rs1297398786
|
|
NM_000022.4(ADA):c.348C>G (p.Pro116=)
|
rs2145319670
|
|
NM_000022.4(ADA):c.355C>A (p.Gln119Lys)
|
|
|
NM_000022.4(ADA):c.357G>A (p.Gln119=)
|
|
|
NM_000022.4(ADA):c.360T>C (p.Ala120=)
|
|
|
NM_000022.4(ADA):c.362+12G>A
|
|
|
NM_000022.4(ADA):c.362+13C>T
|
|
|
NM_000022.4(ADA):c.362+5G>C
|
|
|
NM_000022.4(ADA):c.362+5_362+8del
|
rs763595926
|
|
NM_000022.4(ADA):c.362+6T>C
|
rs200539724
|
|
NM_000022.4(ADA):c.363-11T>C
|
|
|
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.363-3C>T
|
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.367G>A (p.Asp123Asn)
|
rs1458135388
|
|
NM_000022.4(ADA):c.367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.368A>C (p.Asp123Ala)
|
|
|
NM_000022.4(ADA):c.36_37delinsAA (p.Glu13Lys)
|
rs2145338174
|
|
NM_000022.4(ADA):c.372C>T (p.Leu124=)
|
|
|
NM_000022.4(ADA):c.375C>T (p.Thr125=)
|
|
|
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.394del (p.Ala131_Leu132insTer)
|
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.399G>A (p.Val133=)
|
rs2145318189
|
|
NM_000022.4(ADA):c.407del (p.Gly136fs)
|
|
|
NM_000022.4(ADA):c.408C>A (p.Gly136=)
|
|
|
NM_000022.4(ADA):c.410del (p.Leu137fs)
|
|
|
NM_000022.4(ADA):c.411G>T (p.Leu137=)
|
|
|
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
|
|
|
NM_000022.4(ADA):c.418G>C (p.Gly140Arg)
|
rs746917604
|
|
NM_000022.4(ADA):c.419G>A (p.Gly140Glu)
|
rs121908732
|
|
NM_000022.4(ADA):c.421G>T (p.Glu141Ter)
|
rs1199690825
|
|
NM_000022.4(ADA):c.422A>C (p.Glu141Ala)
|
rs1600923570
|
|
NM_000022.4(ADA):c.424C>A (p.Arg142=)
|
|
|
NM_000022.4(ADA):c.433G>C (p.Gly145Arg)
|
rs1568845422
|
|
NM_000022.4(ADA):c.435G>C (p.Gly145=)
|
rs1268573720
|
|
NM_000022.4(ADA):c.442G>T (p.Ala148Ser)
|
|
|
NM_000022.4(ADA):c.445C>A (p.Arg149=)
|
rs121908733
|
|
NM_000022.4(ADA):c.446G>T (p.Arg149Leu)
|
rs121908737
|
|
NM_000022.4(ADA):c.447del (p.Ser150fs)
|
|
|
NM_000022.4(ADA):c.44A>T (p.His15Leu)
|
rs1209280928
|
|
NM_000022.4(ADA):c.452T>C (p.Ile151Thr)
|
rs990121469
|
|
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.467G>T (p.Arg156Leu)
|
rs121908722
|
|
NM_000022.4(ADA):c.478+12C>G
|
|
|
NM_000022.4(ADA):c.478+15C>T
|
|
|
NM_000022.4(ADA):c.478+16G>A
|
|
|
NM_000022.4(ADA):c.478+18C>T
|
|
|
NM_000022.4(ADA):c.478+1G>C
|
|
|
NM_000022.4(ADA):c.478+20T>G
|
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
NM_000022.4(ADA):c.478+6T>C
|
rs1555844600
|
|
NM_000022.4(ADA):c.478+8G>A
|
rs2145317902
|
|
NM_000022.4(ADA):c.479-14C>A
|
|
|
NM_000022.4(ADA):c.479-19G>A
|
|
|
NM_000022.4(ADA):c.479-20G>A
|
|
|
NM_000022.4(ADA):c.479-23_479-2delinsTGGGACCAGCAT
|
|
|
NM_000022.4(ADA):c.479-2del
|
rs1600921786
|
|
NM_000022.4(ADA):c.479-3_479-2del
|
rs1555844457
|
|
NM_000022.4(ADA):c.479-6C>T
|
|
|
NM_000022.4(ADA):c.479-7C>T
|
|
|
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
|
|
|
NM_000022.4(ADA):c.486C>A (p.Ser162=)
|
rs760888818
|
|
NM_000022.4(ADA):c.486C>T (p.Ser162=)
|
|
|
NM_000022.4(ADA):c.489C>G (p.Pro163=)
|
rs2065362080
|
|
NM_000022.4(ADA):c.48C>T (p.Val16=)
|
rs2145338144
|
|
NM_000022.4(ADA):c.498G>A (p.Val166=)
|
rs2145315898
|
|
NM_000022.4(ADA):c.49C>T (p.His17Tyr)
|
|
|
NM_000022.4(ADA):c.49del (p.His17fs)
|
|
|
NM_000022.4(ADA):c.507dup (p.Lys170Ter)
|
|
|
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.516C>T (p.Tyr172=)
|
|
|
NM_000022.4(ADA):c.517del (p.Gln173fs)
|
|
|
NM_000022.4(ADA):c.528C>G (p.Thr176=)
|
rs780518207
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.532dup (p.Val178fs)
|
rs886041796
|
|
NM_000022.4(ADA):c.537C>T (p.Ala179=)
|
rs1350687211
|
|
NM_000022.4(ADA):c.543C>T (p.Asp181=)
|
rs764244541
|
|
NM_000022.4(ADA):c.546G>T (p.Leu182=)
|
|
|
NM_000022.4(ADA):c.552A>C (p.Gly184=)
|
rs2145315694
|
|
NM_000022.4(ADA):c.556G>A (p.Glu186Lys)
|
rs1555844416
|
|
NM_000022.4(ADA):c.558G>A (p.Glu186=)
|
rs1410010771
|
|
NM_000022.4(ADA):c.561C>A (p.Thr187=)
|
|
|
NM_000022.4(ADA):c.561C>T (p.Thr187=)
|
|
|
NM_000022.4(ADA):c.567A>G (p.Pro189=)
|
|
|
NM_000022.4(ADA):c.569G>A (p.Gly190Glu)
|
|
|
NM_000022.4(ADA):c.572G>A (p.Ser191Asn)
|
rs2065360796
|
|
NM_000022.4(ADA):c.573C>T (p.Ser191=)
|
rs1469122145
|
|
NM_000022.4(ADA):c.577dup (p.Leu193fs)
|
rs759445496
|
|
NM_000022.4(ADA):c.57C>A (p.Asp19Glu)
|
rs762695968
|
|
NM_000022.4(ADA):c.594C>T (p.Val198=)
|
rs886056708
|
|
NM_000022.4(ADA):c.596A>C (p.Gln199Pro)
|
rs121908734
|
|
NM_000022.4(ADA):c.596A>G (p.Gln199Arg)
|
|
|
NM_000022.4(ADA):c.600C>A (p.Ala200=)
|
rs2145315464
|
|
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.603C>T (p.Tyr201=)
|
|
|
NM_000022.4(ADA):c.606+10G>T
|
rs201045221
|
|
NM_000022.4(ADA):c.606+15_606+17del
|
rs776587269
|
|
NM_000022.4(ADA):c.606+1G>T
|
|
|
NM_000022.4(ADA):c.606+8C>T
|
|
|
NM_000022.4(ADA):c.607-11C>T
|
|
|
NM_000022.4(ADA):c.607-12dup
|
|
|
NM_000022.4(ADA):c.607-13C>T
|
|
|
NM_000022.4(ADA):c.607-16G>C
|
rs369386306
|
|
NM_000022.4(ADA):c.607-4C>G
|
rs1417471985
|
|
NM_000022.4(ADA):c.607-7C>G
|
rs779676480
|
|
NM_000022.4(ADA):c.607-7C>T
|
rs779676480
|
|
NM_000022.4(ADA):c.607-8C>A
|
rs751830380
|
|
NM_000022.4(ADA):c.607-8C>T
|
rs751830380
|
|
NM_000022.4(ADA):c.607-9C>T
|
|
|
NM_000022.4(ADA):c.612T>A (p.Ala204=)
|
rs1469964785
|
|
NM_000022.4(ADA):c.613_615del (p.Val205del)
|
|
|
NM_000022.4(ADA):c.622_632del (p.Gly208fs)
|
|
|
NM_000022.4(ADA):c.631C>A (p.Arg211Ser)
|
|
|
NM_000022.4(ADA):c.636T>C (p.Thr212=)
|
|
|
NM_000022.4(ADA):c.645C>G (p.Ala215=)
|
|
|
NM_000022.4(ADA):c.645_648dup (p.Glu217fs)
|
rs2065348171
|
|
NM_000022.4(ADA):c.648G>A (p.Gly216=)
|
rs1568843748
|
|
NM_000022.4(ADA):c.654G>T (p.Val218=)
|
|
|
NM_000022.4(ADA):c.659C>T (p.Ser220Leu)
|
rs747167602
|
|
NM_000022.4(ADA):c.660G>C (p.Ser220=)
|
rs147038410
|
|
NM_000022.4(ADA):c.661G>A (p.Ala221Thr)
|
rs2065347889
|
|
NM_000022.4(ADA):c.674_675del (p.Lys225fs)
|
|
|
NM_000022.4(ADA):c.678+12G>C
|
|
|
NM_000022.4(ADA):c.678+13del
|
|
|
NM_000022.4(ADA):c.678+17G>A
|
|
|
NM_000022.4(ADA):c.678+20A>G
|
|
|
NM_000022.4(ADA):c.679-17A>T
|
|
|
NM_000022.4(ADA):c.679-2A>G
|
|
|
NM_000022.4(ADA):c.679-3C>G
|
rs2065346802
|
|
NM_000022.4(ADA):c.679-3C>T
|
|
|
NM_000022.4(ADA):c.679-7T>C
|
|
|
NM_000022.4(ADA):c.688A>C (p.Ile230Leu)
|
rs775436011
|
|
NM_000022.4(ADA):c.690dup (p.Leu231fs)
|
rs2065346614
|
|
NM_000022.4(ADA):c.693C>G (p.Leu231=)
|
|
|
NM_000022.4(ADA):c.698C>T (p.Thr233Ile)
|
rs121908729
|
|
NM_000022.4(ADA):c.700G>A (p.Glu234Lys)
|
rs2065346506
|
|
NM_000022.4(ADA):c.701A>G (p.Glu234Gly)
|
|
|
NM_000022.4(ADA):c.703C>A (p.Arg235=)
|
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
NM_000022.4(ADA):c.705G>C (p.Arg235=)
|
rs2123518248
|
|
NM_000022.4(ADA):c.705del (p.Leu236fs)
|
rs1225623204
|
|
NM_000022.4(ADA):c.706C>T (p.Leu236=)
|
|
|
NM_000022.4(ADA):c.708G>A (p.Leu236=)
|
rs757155433
|
|
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)
|
rs1312320956
|
|
NM_000022.4(ADA):c.723C>T (p.His241=)
|
|
|
NM_000022.4(ADA):c.727C>T (p.Leu243=)
|
|
|
NM_000022.4(ADA):c.729G>C (p.Leu243=)
|
rs755578452
|
|
NM_000022.4(ADA):c.736C>T (p.Gln246Ter)
|
rs1555844120
|
|
NM_000022.4(ADA):c.741C>T (p.Ala247=)
|
|
|
NM_000022.4(ADA):c.747T>C (p.Tyr249=)
|
rs2123518034
|
|
NM_000022.4(ADA):c.751A>T (p.Arg251Trp)
|
rs1254815787
|
|
NM_000022.4(ADA):c.753G>A (p.Arg251=)
|
|
|
NM_000022.4(ADA):c.755_756insTG (p.Arg253fs)
|
|
|
NM_000022.4(ADA):c.757C>A (p.Arg253=)
|
rs201944717
|
|
NM_000022.4(ADA):c.760C>T (p.Gln254Ter)
|
rs2065345592
|
|
NM_000022.4(ADA):c.765A>G (p.Glu255=)
|
rs761098217
|
|
NM_000022.4(ADA):c.767del (p.Asn256fs)
|
rs2123517868
|
|
NM_000022.4(ADA):c.76A>C (p.Thr26Pro)
|
|
|
NM_000022.4(ADA):c.771G>A (p.Met257Ile)
|
|
|
NM_000022.4(ADA):c.772C>T (p.His258Tyr)
|
|
|
NM_000022.4(ADA):c.780+15G>T
|
|
|
NM_000022.4(ADA):c.780+16A>G
|
|
|
NM_000022.4(ADA):c.780+17G>A
|
|
|
NM_000022.4(ADA):c.780+18T>C
|
|
|
NM_000022.4(ADA):c.780+19G>T
|
|
|
NM_000022.4(ADA):c.780+1del
|
rs2123517791
|
|
NM_000022.4(ADA):c.780+4A>G
|
|
|
NM_000022.4(ADA):c.780+7G>C
|
rs371862936
|
|
NM_000022.4(ADA):c.780+8G>T
|
|
|
NM_000022.4(ADA):c.781-17C>T
|
|
|
NM_000022.4(ADA):c.781-18A>C
|
|
|
NM_000022.4(ADA):c.781-1G>T
|
|
|
NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG
|
rs2123516908
|
|
NM_000022.4(ADA):c.781-4C>T
|
rs374812597
|
|
NM_000022.4(ADA):c.781-8T>C
|
|
|
NM_000022.4(ADA):c.781-8T>G
|
|
|
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.795C>T (p.Ser265=)
|
rs1318848804
|
|
NM_000022.4(ADA):c.7C>T (p.Gln3Ter)
|
rs1057520217
|
|
NM_000022.4(ADA):c.800A>C (p.Tyr267Ser)
|
rs370450947
|
|
NM_000022.4(ADA):c.801C>T (p.Tyr267=)
|
rs2123516817
|
|
NM_000022.4(ADA):c.807T>G (p.Thr269=)
|
rs2123516814
|
|
NM_000022.4(ADA):c.810T>C (p.Gly270=)
|
|
|
NM_000022.4(ADA):c.813C>T (p.Ala271=)
|
|
|
NM_000022.4(ADA):c.813_814insAC (p.Trp272fs)
|
|
|
NM_000022.4(ADA):c.822G>A (p.Pro274=)
|
rs562095440
|
|
NM_000022.4(ADA):c.822G>T (p.Pro274=)
|
rs562095440
|
|
NM_000022.4(ADA):c.825C>T (p.Asp275=)
|
rs778167423
|
|
NM_000022.4(ADA):c.829del (p.Glu277fs)
|
|
|
NM_000022.4(ADA):c.831G>A (p.Glu277=)
|
|
|
NM_000022.4(ADA):c.837A>G (p.Ala279=)
|
|
|
NM_000022.4(ADA):c.83T>A (p.Leu28Ter)
|
|
|
NM_000022.4(ADA):c.845+13C>T
|
|
|
NM_000022.4(ADA):c.845+15C>T
|
|
|
NM_000022.4(ADA):c.845+17T>A
|
|
|
NM_000022.4(ADA):c.845+17T>G
|
|
|
NM_000022.4(ADA):c.845+18G>C
|
|
|
NM_000022.4(ADA):c.845+20G>A
|
|
|
NM_000022.4(ADA):c.845+2T>C
|
rs2123516572
|
|
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
|
|
|
NM_000022.4(ADA):c.846-12C>T
|
|
|
NM_000022.4(ADA):c.846-13C>T
|
|
|
NM_000022.4(ADA):c.846-17T>G
|
|
|
NM_000022.4(ADA):c.846-5T>C
|
|
|
NM_000022.4(ADA):c.846-7T>G
|
rs1453879636
|
|
NM_000022.4(ADA):c.846-9C>G
|
|
|
NM_000022.4(ADA):c.846-9C>T
|
|
|
NM_000022.4(ADA):c.850A>G (p.Lys284Glu)
|
rs2123511375
|
|
NM_000022.4(ADA):c.854dup (p.Asn285fs)
|
rs2123511347
|
|
NM_000022.4(ADA):c.859C>T (p.Gln287Ter)
|
rs2065327852
|
|
NM_000022.4(ADA):c.859_877dup (p.Asn293delinsThrGlyTer)
|
|
|
NM_000022.4(ADA):c.861G>A (p.Gln287=)
|
|
|
NM_000022.4(ADA):c.867C>G (p.Asn289Lys)
|
|
|
NM_000022.4(ADA):c.870C>A (p.Tyr290Ter)
|
rs2065327638
|
|
NM_000022.4(ADA):c.870C>T (p.Tyr290=)
|
rs2065327638
|
|
NM_000022.4(ADA):c.872C>G (p.Ser291Trp)
|
rs121908721
|
|
NM_000022.4(ADA):c.877_878delinsT (p.Asn293fs)
|
|
|
NM_000022.4(ADA):c.879_898del (p.Thr294fs)
|
rs2065327187
|
|
NM_000022.4(ADA):c.882A>C (p.Thr294=)
|
rs2123511182
|
|
NM_000022.4(ADA):c.888C>T (p.Asp296=)
|
rs2123511163
|
|
NM_000022.4(ADA):c.890C>T (p.Pro297Leu)
|
rs121908718
|
|
NM_000022.4(ADA):c.893T>G (p.Leu298Arg)
|
|
|
NM_000022.4(ADA):c.894C>T (p.Leu298=)
|
|
|
NM_000022.4(ADA):c.902A>T (p.Lys301Met)
|
|
|
NM_000022.4(ADA):c.906C>T (p.Ser302=)
|
rs2123510993
|
|
NM_000022.4(ADA):c.906_915delinsTGTTACCAGATTACCAGATG (p.Thr303fs)
|
|
|
NM_000022.4(ADA):c.909C>T (p.Thr303=)
|
rs2065326970
|
|
NM_000022.4(ADA):c.912G>A (p.Leu304=)
|
|
|
NM_000022.4(ADA):c.933C>G (p.Thr311=)
|
|
|
NM_000022.4(ADA):c.937C>T (p.Arg313Trp)
|
rs79249850
|
|
NM_000022.4(ADA):c.939G>C (p.Arg313=)
|
rs2123510810
|
|
NM_000022.4(ADA):c.93C>A (p.Gly31=)
|
|
|
NM_000022.4(ADA):c.940G>T (p.Asp314Tyr)
|
|
|
NM_000022.4(ADA):c.946_947insTGTT (p.Gly316fs)
|
|
|
NM_000022.4(ADA):c.948C>T (p.Gly316=)
|
rs750404746
|
|
NM_000022.4(ADA):c.95+10T>C
|
rs1347064693
|
|
NM_000022.4(ADA):c.95+11A>G
|
|
|
NM_000022.4(ADA):c.95+13A>G
|
|
|
NM_000022.4(ADA):c.95+17G>A
|
|
|
NM_000022.4(ADA):c.95+17G>C
|
|
|
NM_000022.4(ADA):c.95+1G>A
|
rs778343059
|
|
NM_000022.4(ADA):c.954T>C (p.Thr318=)
|
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000022.4(ADA):c.96-10T>C
|
|
|
NM_000022.4(ADA):c.96-10T>G
|
rs2145324983
|
|
NM_000022.4(ADA):c.96-12T>C
|
rs2065410397
|
|
NM_000022.4(ADA):c.96-17_96-14del
|
|
|
NM_000022.4(ADA):c.96-20A>C
|
|
|
NM_000022.4(ADA):c.96-3C>T
|
rs771692807
|
|
NM_000022.4(ADA):c.96-6T>C
|
|
|
NM_000022.4(ADA):c.96-7T>C
|
rs2145324973
|
|
NM_000022.4(ADA):c.96G>A (p.Arg32=)
|
|
|
NM_000022.4(ADA):c.970del (p.Arg324fs)
|
rs2065325961
|
|
NM_000022.4(ADA):c.972G>C (p.Arg324Ser)
|
|
|
NM_000022.4(ADA):c.975+10T>C
|
rs373146145
|
|
NM_000022.4(ADA):c.975+13G>A
|
|
|
NM_000022.4(ADA):c.975+13G>C
|
|
|
NM_000022.4(ADA):c.975+15G>C
|
|
|
NM_000022.4(ADA):c.975+18A>T
|
|
|
NM_000022.4(ADA):c.975+19_975+20insG
|
|
|
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.975+7G>C
|
rs2123510571
|
|
NM_000022.4(ADA):c.975+8G>T
|
rs192148185
|
|
NM_000022.4(ADA):c.975+9del
|
rs2123510552
|
|
NM_000022.4(ADA):c.976-10G>A
|
|
|
NM_000022.4(ADA):c.976-14del
|
|
|
NM_000022.4(ADA):c.976-15T>C
|
|
|
NM_000022.4(ADA):c.976-17C>T
|
|
|
NM_000022.4(ADA):c.976-19G>C
|
|
|
NM_000022.4(ADA):c.976-1G>C
|
|
|
NM_000022.4(ADA):c.976-1_979del
|
rs1441174171
|
|
NM_000022.4(ADA):c.976-2A>G
|
|
|
NM_000022.4(ADA):c.976-34G>A
|
rs1194494050
|
|
NM_000022.4(ADA):c.976-4C>G
|
rs757375351
|
|
NM_000022.4(ADA):c.976-8C>A
|
rs2123508190
|
|
NM_000022.4(ADA):c.976-9C>G
|
|
|
NM_000022.4(ADA):c.996_997del (p.Ser333fs)
|
rs2123508053
|
|
NM_000022.4(ADA):c.99G>A (p.Arg33=)
|
rs1357860118
|
|
NM_000022.4(ADA):c.[455T>C;478+6T>C]
|
|
|
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
|
|
|