NM_031443.4(CCM2):c.31-10585G>C
|
rs2289365
|
0.23198
|
NM_031443.4(CCM2):c.915G>A (p.Thr305=)
|
rs2289367
|
0.22659
|
NM_001122752.2(SERPINI1):c.-19+92G>A
|
rs9835352
|
0.16968
|
NM_031443.4(CCM2):c.358G>A (p.Val120Ile)
|
rs11552377
|
0.13068
|
NM_194454.3(KRIT1):c.1980A>G (p.Val660=)
|
rs11542682
|
0.10861
|
NM_194456.1(KRIT1):c.*1385A>G
|
rs62467792
|
0.09950
|
NM_019004.2(ANKIB1):c.-614C>T
|
rs28365965
|
0.07914
|
NM_031443.4(CCM2):c.157G>A (p.Val53Ile)
|
rs2107732
|
0.06147
|
NM_031443.4(CCM2):c.351G>A (p.Ala117=)
|
rs35888291
|
0.03813
|
NM_019004.2(ANKIB1):c.-553G>A
|
rs58075588
|
0.03112
|
NM_194456.1(KRIT1):c.*1444T>G
|
rs10240962
|
0.02684
|
NM_194454.3(KRIT1):c.*272G>A
|
rs28502064
|
0.02669
|
NM_194454.3(KRIT1):c.*320C>T
|
rs112567410
|
0.02314
|
NM_031443.4(CCM2):c.384G>A (p.Glu128=)
|
rs73694268
|
0.01100
|
NM_019004.2(ANKIB1):c.-605T>C
|
rs143215997
|
0.00775
|
NM_194454.3(KRIT1):c.-356G>A
|
rs117169559
|
0.00762
|
NM_031443.4(CCM2):c.984G>A (p.Gly328=)
|
rs112504276
|
0.00732
|
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn)
|
rs2289366
|
0.00694
|
NM_007217.4(PDCD10):c.-116-9T>C
|
rs146858915
|
0.00636
|
NM_194454.3(KRIT1):c.*141C>T
|
rs117325194
|
0.00554
|
NM_194454.3(KRIT1):c.262+1138G>A
|
rs560870062
|
0.00470
|
NM_031443.4(CCM2):c.804-12del
|
rs533909649
|
0.00408
|
NM_194456.1(KRIT1):c.*1363T>G
|
rs148980420
|
0.00355
|
NM_007217.4(PDCD10):c.395+46C>T
|
rs200959967
|
0.00353
|
NM_007217.4(PDCD10):c.96+6786_96+6787del
|
rs577939683
|
0.00306
|
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)
|
rs138763545
|
0.00264
|
NM_019004.2(ANKIB1):c.-593G>A
|
rs553392669
|
0.00255
|
NM_007217.4(PDCD10):c.*285G>T
|
rs190941416
|
0.00245
|
NM_031443.4(CCM2):c.1054+12C>T
|
rs190686229
|
0.00243
|
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)
|
rs143710815
|
0.00238
|
NM_031443.4(CCM2):c.804-5C>T
|
rs145003686
|
0.00232
|
NM_194454.3(KRIT1):c.-43C>T
|
rs193080208
|
0.00220
|
NM_194454.3(KRIT1):c.846-5dup
|
rs373763254
|
0.00219
|
NM_031443.4(CCM2):c.804-9C>G
|
rs150362858
|
0.00201
|
NM_031443.4(CCM2):c.30+2639G>A
|
rs181735976
|
0.00195
|
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met)
|
rs41278788
|
0.00194
|
NM_194456.1(KRIT1):c.*1750C>T
|
rs188612683
|
0.00188
|
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=)
|
rs140009885
|
0.00187
|
NM_031443.4(CCM2):c.288+179G>C
|
rs137874552
|
0.00184
|
NM_031443.4(CCM2):c.246C>T (p.Pro82=)
|
rs148244188
|
0.00183
|
NM_194454.3(KRIT1):c.-2-308C>T
|
rs567181702
|
0.00183
|
NM_031443.4(CCM2):c.31-18122A>T
|
rs182880220
|
0.00172
|
NM_194456.1(KRIT1):c.*1702A>G
|
rs192818018
|
0.00163
|
NM_007217.4(PDCD10):c.-438G>C
|
rs546722173
|
0.00162
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
NM_194454.3(KRIT1):c.*137del
|
rs543954194
|
0.00138
|
NM_031443.4(CCM2):c.1260G>A (p.Glu420=)
|
rs2304691
|
0.00136
|
NM_031443.4(CCM2):c.636G>C (p.Leu212=)
|
rs150076154
|
0.00131
|
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser)
|
rs150428392
|
0.00128
|
NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)
|
rs150734280
|
0.00119
|
NM_031443.4(CCM2):c.803+17C>G
|
rs374335278
|
0.00106
|
NM_031443.4(CCM2):c.1055-6C>T
|
rs187505526
|
0.00104
|
NM_194454.3(KRIT1):c.-421+190G>T
|
rs570721041
|
0.00102
|
NM_194454.3(KRIT1):c.1819-12G>C
|
rs199748245
|
0.00097
|
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln)
|
rs34358665
|
0.00097
|
NM_194454.3(KRIT1):c.1146+8A>T
|
rs182762651
|
0.00093
|
NM_194454.3(KRIT1):c.2207C>T (p.Ser736Leu)
|
rs151059782
|
0.00081
|
NM_194454.3(KRIT1):c.2046G>A (p.Lys682=)
|
rs144960332
|
0.00080
|
NM_007217.4(PDCD10):c.*199A>C
|
rs183589284
|
0.00074
|
NM_007217.4(PDCD10):c.474+9A>G
|
rs367568906
|
0.00074
|
NM_007217.4(PDCD10):c.574G>A (p.Val192Ile)
|
rs151267430
|
0.00061
|
NM_194454.3(KRIT1):c.*451T>C
|
rs886062486
|
0.00054
|
NM_194454.3(KRIT1):c.1782A>G (p.Ala594=)
|
rs145605400
|
0.00054
|
NM_031443.4(CCM2):c.735C>T (p.Ser245=)
|
rs199682975
|
0.00053
|
NM_194454.3(KRIT1):c.2085T>A (p.Thr695=)
|
rs149437256
|
0.00051
|
NM_194454.3(KRIT1):c.-538C>T
|
rs886062497
|
0.00048
|
NM_194454.3(KRIT1):c.302G>T (p.Gly101Val)
|
rs147568834
|
0.00044
|
NM_001122752.2(SERPINI1):c.-19+117A>G
|
rs145045884
|
0.00043
|
NM_194454.3(KRIT1):c.1412-9G>A
|
rs199932606
|
0.00043
|
NM_007217.4(PDCD10):c.96+4988C>G
|
rs748153515
|
0.00041
|
NM_194454.3(KRIT1):c.235A>G (p.Ile79Val)
|
rs116801031
|
0.00038
|
NM_194456.1(KRIT1):c.-647T>C
|
rs370781912
|
0.00034
|
NM_031443.4(CCM2):c.339C>T (p.Leu113=)
|
rs146259619
|
0.00032
|
NM_007217.4(PDCD10):c.151-2025A>G
|
rs773691623
|
0.00031
|
NM_007217.4(PDCD10):c.*339G>A
|
rs528574350
|
0.00029
|
NM_194454.3(KRIT1):c.*46G>A
|
rs369227523
|
0.00029
|
NM_194454.3(KRIT1):c.-2-7T>C
|
rs550533414
|
0.00029
|
NM_007217.4(PDCD10):c.-116-2132T>G
|
rs147072468
|
0.00027
|
NM_194454.3(KRIT1):c.845+10C>T
|
rs372125478
|
0.00026
|
NM_194456.1(KRIT1):c.-628T>A
|
rs745344627
|
0.00025
|
NM_194454.3(KRIT1):c.*361C>G
|
rs886062489
|
0.00024
|
NM_194454.3(KRIT1):c.587C>G (p.Ala196Gly)
|
rs549707288
|
0.00024
|
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)
|
rs150912644
|
0.00023
|
NM_194454.3(KRIT1):c.1818+4A>G
|
rs193035191
|
0.00023
|
NM_031443.4(CCM2):c.126G>A (p.Leu42=)
|
rs146579519
|
0.00021
|
NM_031443.4(CCM2):c.1284C>T (p.Ile428=)
|
rs144918172
|
0.00020
|
NM_031443.4(CCM2):c.328G>A (p.Asp110Asn)
|
rs41280666
|
0.00019
|
NM_194454.3(KRIT1):c.1914A>G (p.Ala638=)
|
rs146106391
|
0.00019
|
NM_194454.3(KRIT1):c.510A>G (p.Gln170=)
|
rs200684252
|
0.00018
|
NM_194454.3(KRIT1):c.*234G>A
|
rs574668355
|
0.00016
|
NM_031443.4(CCM2):c.222G>A (p.Thr74=)
|
rs375331762
|
0.00014
|
NM_194454.3(KRIT1):c.*885A>T
|
rs567470870
|
0.00014
|
NM_194454.3(KRIT1):c.2152G>A (p.Val718Met)
|
rs140952803
|
0.00014
|
NM_194454.3(KRIT1):c.444T>C (p.His148=)
|
rs746035680
|
0.00014
|
NM_194454.3(KRIT1):c.845+9T>G
|
rs140152251
|
0.00014
|
NM_031443.4(CCM2):c.720G>A (p.Pro240=)
|
rs534266433
|
0.00013
|
NM_007217.4(PDCD10):c.-393G>A
|
rs779552942
|
0.00012
|
NM_031443.4(CCM2):c.204+2040T>C
|
rs564132631
|
0.00012
|
NM_194454.3(KRIT1):c.*331G>A
|
rs888560477
|
0.00012
|
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)
|
rs143644029
|
0.00012
|
NM_194456.1(KRIT1):c.*1357A>C
|
rs1001963724
|
0.00012
|
NM_031443.4(CCM2):c.1238C>T (p.Ser413Leu)
|
rs143962510
|
0.00011
|
NM_031443.4(CCM2):c.568G>A (p.Val190Met)
|
rs200358025
|
0.00011
|
NM_194454.3(KRIT1):c.1752C>T (p.Ile584=)
|
rs148836047
|
0.00011
|
NM_194454.3(KRIT1):c.1809T>C (p.His603=)
|
rs149754162
|
0.00011
|
NM_194454.3(KRIT1):c.*182A>G
|
rs1047129442
|
0.00010
|
NM_031443.4(CCM2):c.31-14922C>T
|
rs776682467
|
0.00009
|
NM_194454.3(KRIT1):c.*371_*372insG
|
rs886062488
|
0.00009
|
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)
|
rs370766145
|
0.00009
|
NM_007217.4(PDCD10):c.268+6G>A
|
rs777634962
|
0.00008
|
NM_019004.2(ANKIB1):c.-596C>T
|
rs1437344467
|
0.00008
|
NM_194454.3(KRIT1):c.582A>G (p.Ala194=)
|
rs369744043
|
0.00008
|
NM_007217.4(PDCD10):c.-432C>T
|
rs886058164
|
0.00007
|
NM_007217.4(PDCD10):c.150+2693T>C
|
rs374384046
|
0.00007
|
NM_031443.4(CCM2):c.915+11G>A
|
rs2289368
|
0.00007
|
NM_007217.4(PDCD10):c.*174C>T
|
rs886058159
|
0.00006
|
NM_007217.4(PDCD10):c.96+4389A>G
|
rs541610164
|
0.00006
|
NM_007217.4(PDCD10):c.96+865A>C
|
rs779988645
|
0.00006
|
NM_031443.4(CCM2):c.1203T>C (p.Asn401=)
|
rs367740781
|
0.00006
|
NM_194454.3(KRIT1):c.-529C>T
|
rs886062496
|
0.00006
|
NM_194454.3(KRIT1):c.1355G>A (p.Arg452His)
|
rs201272513
|
0.00006
|
NM_194454.3(KRIT1):c.264A>G (p.Gly88=)
|
rs201877439
|
0.00006
|
NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala)
|
rs140396626
|
0.00006
|
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)
|
rs752995216
|
0.00005
|
NM_007217.4(PDCD10):c.*139A>G
|
rs758404072
|
0.00005
|
NM_007217.4(PDCD10):c.-117+1010C>T
|
rs912904786
|
0.00005
|
NM_031443.4(CCM2):c.1091A>G (p.His364Arg)
|
rs201559289
|
0.00005
|
NM_031443.4(CCM2):c.665C>T (p.Thr222Met)
|
rs370245890
|
0.00005
|
NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys)
|
rs376805857
|
0.00005
|
NM_031443.4(CCM2):c.160G>A (p.Glu54Lys)
|
rs759104121
|
0.00004
|
NM_031443.4(CCM2):c.612C>T (p.Val204=)
|
rs181474100
|
0.00004
|
NM_031443.4(CCM2):c.883G>A (p.Ala295Thr)
|
rs762020337
|
0.00004
|
NM_194454.3(KRIT1):c.*1205T>C
|
rs183584214
|
0.00004
|
NM_194454.3(KRIT1):c.*648A>G
|
rs1016578182
|
0.00004
|
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe)
|
rs182763805
|
0.00004
|
NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala)
|
rs142071709
|
0.00004
|
NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn)
|
rs760437448
|
0.00004
|
NM_031443.4(CCM2):c.48A>T (p.Pro16=)
|
rs142320735
|
0.00003
|
NM_194454.3(KRIT1):c.*578A>G
|
rs886062485
|
0.00003
|
NM_194454.3(KRIT1):c.1428A>G (p.Pro476=)
|
rs781533650
|
0.00003
|
NM_194454.3(KRIT1):c.499C>T (p.Arg167Cys)
|
rs35350895
|
0.00003
|
NM_194454.3(KRIT1):c.846-15C>T
|
rs527439925
|
0.00003
|
NM_007217.4(PDCD10):c.*141C>T
|
rs886058160
|
0.00002
|
NM_031443.4(CCM2):c.556G>A (p.Ala186Thr)
|
rs758091168
|
0.00002
|
NM_194454.3(KRIT1):c.-174C>A
|
rs886062491
|
0.00002
|
NM_194454.3(KRIT1):c.-291T>C
|
rs983066692
|
0.00002
|
NM_194454.3(KRIT1):c.1134A>T (p.Pro378=)
|
rs752464613
|
0.00002
|
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)
|
rs370360812
|
0.00002
|
NM_007217.4(PDCD10):c.213C>T (p.Ser71=)
|
rs201316215
|
0.00001
|
NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter)
|
rs1357917630
|
0.00001
|
NM_007217.4(PDCD10):c.45A>G (p.Thr15=)
|
rs751478724
|
0.00001
|
NM_007217.4(PDCD10):c.474+5G>A
|
rs1553759139
|
0.00001
|
NM_007217.4(PDCD10):c.96+17T>C
|
rs1208666143
|
0.00001
|
NM_031443.4(CCM2):c.1023C>A (p.Leu341=)
|
rs1174989938
|
0.00001
|
NM_031443.4(CCM2):c.1026C>T (p.Tyr342=)
|
rs556953955
|
0.00001
|
NM_031443.4(CCM2):c.221C>T (p.Thr74Met)
|
rs750771937
|
0.00001
|
NM_031443.4(CCM2):c.472+16G>A
|
rs1798687606
|
0.00001
|
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)
|
rs755800734
|
0.00001
|
NM_031443.4(CCM2):c.589A>C (p.Ile197Leu)
|
rs1798899357
|
0.00001
|
NM_031443.4(CCM2):c.744C>T (p.Ser248=)
|
rs1240228560
|
0.00001
|
NM_031443.4(CCM2):c.777G>A (p.Glu259=)
|
rs765305537
|
0.00001
|
NM_031443.4(CCM2):c.830G>A (p.Gly277Asp)
|
rs1421166194
|
0.00001
|
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)
|
rs1437280900
|
0.00001
|
NM_031443.4(CCM2):c.989C>T (p.Ser330Phe)
|
rs779374000
|
0.00001
|
NM_194454.3(KRIT1):c.*57G>A
|
rs529937203
|
0.00001
|
NM_194454.3(KRIT1):c.*77T>C
|
rs1330882008
|
0.00001
|
NM_194454.3(KRIT1):c.-312A>G
|
rs538102163
|
0.00001
|
NM_194454.3(KRIT1):c.-421+185C>A
|
rs948520161
|
0.00001
|
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met)
|
rs533696377
|
0.00001
|
NM_194454.3(KRIT1):c.1148A>G (p.His383Arg)
|
rs1195083508
|
0.00001
|
NM_194454.3(KRIT1):c.1176A>G (p.Pro392=)
|
rs538610091
|
0.00001
|
NM_194454.3(KRIT1):c.1208A>G (p.Asn403Ser)
|
rs760935725
|
0.00001
|
NM_194454.3(KRIT1):c.1563+6C>T
|
rs1379958318
|
0.00001
|
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=)
|
rs369915828
|
0.00001
|
NM_194454.3(KRIT1):c.2026-12A>G
|
rs1041438637
|
0.00001
|
NM_194454.3(KRIT1):c.2155G>T (p.Val719Leu)
|
rs759149249
|
0.00001
|
NM_194454.3(KRIT1):c.2189T>C (p.Met730Thr)
|
rs1251580650
|
0.00001
|
NM_194454.3(KRIT1):c.296T>A (p.Leu99Gln)
|
rs1445866560
|
0.00001
|
NM_194454.3(KRIT1):c.413T>C (p.Ile138Thr)
|
rs1172939308
|
0.00001
|
NM_194454.3(KRIT1):c.500G>A (p.Arg167His)
|
rs374246090
|
0.00001
|
NM_194454.3(KRIT1):c.535C>T (p.Arg179Ter)
|
rs777198867
|
0.00001
|
NM_194454.3(KRIT1):c.675A>T (p.Ala225=)
|
rs770622492
|
0.00001
|
NM_194454.3(KRIT1):c.729+8T>C
|
rs1208375976
|
0.00001
|
NM_194454.3(KRIT1):c.885C>T (p.Ser295=)
|
rs761571988
|
0.00001
|
NM_194456.1(KRIT1):c.*1530T>C
|
rs75182503
|
0.00001
|
NC_000003.11:g.(?_167402096)_(167405501_?)del
|
|
|
NC_000003.11:g.(?_167405002)_(167413530_?)del
|
|
|
NC_000003.11:g.(?_167413364)_(167413530_?)del
|
|
|
NC_000003.11:g.(?_167413364)_(167437945_?)del
|
|
|
NC_000003.11:g.(?_167422610)_(167422703_?)del
|
|
|
NC_000003.11:g.(?_167422610)_(167437965_?)del
|
|
|
NC_000003.11:g.(?_167437830)_(167437945_?)del
|
|
|
NC_000003.12:g.(?_167683298_(167734892_?)del
|
|
|
NC_000003.12:g.(?_167684288)_(167687713_?)del
|
|
|
NC_000003.12:g.(?_167684288)_(167697146_?)del
|
|
|
NC_000003.12:g.(?_167684288)_(167720177_?)del
|
|
|
NC_000003.12:g.(?_167687214)_(167695742_?)dup
|
|
|
NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del
|
|
|
NC_000007.13:g.(?_45039933)_(45039982_?)del
|
|
|
NC_000007.13:g.(?_45039933)_(45115674_?)del
|
|
|
NC_000007.13:g.(?_45067284)_(45115676_?)del
|
|
|
NC_000007.13:g.(?_45077832)_(45115674_?)del
|
|
|
NC_000007.13:g.(?_45103497)_(45109580_?)del
|
|
|
NC_000007.13:g.(?_45109405)_(45109580_?)del
|
|
|
NC_000007.13:g.(?_91829918)_(91851387_?)del
|
|
|
NC_000007.13:g.(?_91830050)_(91830803_?)del
|
|
|
NC_000007.13:g.(?_91830050)_(91844111_?)del
|
|
|
NC_000007.13:g.(?_91830050)_(91867093_?)del
|
|
|
NC_000007.13:g.(?_91830690)_(91832501_?)del
|
|
|
NC_000007.13:g.(?_91842489)_(91843313_?)del
|
|
|
NC_000007.13:g.(?_91842489)_(91871449_?)del
|
|
|
NC_000007.13:g.(?_91851196)_(91852312_?)del
|
|
|
NC_000007.13:g.(?_91851196)_(91871469_?)del
|
|
|
NC_000007.13:g.(?_91863743)_(91871469_?)del
|
|
|
NC_000007.13:g.(?_91863763)_(91871451_?)del
|
|
|
NC_000007.13:g.(?_91864697)_(91867093_?)dup
|
|
|
NC_000007.13:g.(?_91866961)_(91871469_?)del
|
|
|
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)del
|
|
|
NC_000007.14:g.(?_45027705)_(45086112_?)del
|
|
|
NC_000007.14:g.(?_45038233)_(45038446_?)del
|
|
|
NC_000007.14:g.(?_45038253)_(45076470_?)del
|
|
|
NC_000007.14:g.(?_92213175)_(92242155_?)del
|
|
|
NC_000007.14:g.(?_92225700)_(92226702_?)del
|
|
|
NC_000007.14:g.(?_92234429)_(92234943_?)del
|
|
|
NC_000007.14:g.(?_92240973)_(92242155_?)del
|
|
|
NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]
|
|
|
NC_000007.14:g.92201424dup
|
rs2131089744
|
|
NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)
|
|
|
NM_001029835.2(CCM2):c.428T>G (p.Leu143Arg)
|
|
|
NM_001029835.2(CCM2):c.430G>C (p.Ala144Pro)
|
|
|
NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)
|
|
|
NM_006218.4(PIK3CA):c.287A>G (p.Gln96Arg)
|
|
|
NM_007217.4(PDCD10):c.*221T>C
|
rs886058158
|
|
NM_007217.4(PDCD10):c.*63T>C
|
rs886058162
|
|
NM_007217.4(PDCD10):c.*87A>T
|
rs886058161
|
|
NM_007217.4(PDCD10):c.-117+6518_20del
|
|
|
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter)
|
rs1057517786
|
|
NM_007217.4(PDCD10):c.131T>G (p.Leu44Arg)
|
|
|
NM_007217.4(PDCD10):c.131_132insTT (p.Leu44_Arg45insTer)
|
rs2108438340
|
|
NM_007217.4(PDCD10):c.131dup (p.Arg45fs)
|
rs2108438340
|
|
NM_007217.4(PDCD10):c.143TCA[1] (p.Ile49del)
|
|
|
NM_007217.4(PDCD10):c.150+11A>G
|
|
|
NM_007217.4(PDCD10):c.151-11C>T
|
rs886058163
|
|
NM_007217.4(PDCD10):c.151-14del
|
|
|
NM_007217.4(PDCD10):c.159A>G (p.Lys53=)
|
|
|
NM_007217.4(PDCD10):c.160G>T (p.Glu54Ter)
|
rs2108409609
|
|
NM_007217.4(PDCD10):c.160_161del (p.Glu54fs)
|
rs2108409594
|
|
NM_007217.4(PDCD10):c.160_163del (p.Glu54fs)
|
rs1553761266
|
|
NM_007217.4(PDCD10):c.164del (p.Asn55fs)
|
rs2108409560
|
|
NM_007217.4(PDCD10):c.178C>T (p.Gln60Ter)
|
rs1720895403
|
|
NM_007217.4(PDCD10):c.208A>T (p.Lys70Ter)
|
|
|
NM_007217.4(PDCD10):c.211del (p.Ser71fs)
|
rs2108409355
|
|
NM_007217.4(PDCD10):c.211dup (p.Ser71fs)
|
rs2108409355
|
|
NM_007217.4(PDCD10):c.214G>A (p.Val72Met)
|
|
|
NM_007217.4(PDCD10):c.214G>C (p.Val72Leu)
|
rs562763010
|
|
NM_007217.4(PDCD10):c.229dup (p.Thr77fs)
|
|
|
NM_007217.4(PDCD10):c.243del (p.Arg82fs)
|
|
|
NM_007217.4(PDCD10):c.268+18del
|
|
|
NM_007217.4(PDCD10):c.268+5C>G
|
|
|
NM_007217.4(PDCD10):c.269-1G>C
|
rs1559952467
|
|
NM_007217.4(PDCD10):c.270G>A (p.Glu90=)
|
|
|
NM_007217.4(PDCD10):c.271T>C (p.Tyr91His)
|
|
|
NM_007217.4(PDCD10):c.274_275del (p.Met92fs)
|
|
|
NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter)
|
rs1303470125
|
|
NM_007217.4(PDCD10):c.311A>G (p.Asn104Ser)
|
|
|
NM_007217.4(PDCD10):c.312C>T (p.Asn104=)
|
|
|
NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter)
|
rs1553760900
|
|
NM_007217.4(PDCD10):c.333del (p.Lys111fs)
|
rs1559952317
|
|
NM_007217.4(PDCD10):c.333dup (p.Gln112fs)
|
rs1559952317
|
|
NM_007217.4(PDCD10):c.334_337del (p.Gln112fs)
|
rs2108403745
|
|
NM_007217.4(PDCD10):c.377G>T (p.Arg126Met)
|
|
|
NM_007217.4(PDCD10):c.385C>T (p.Gln129Ter)
|
rs1577329665
|
|
NM_007217.4(PDCD10):c.392_395del (p.Ile131fs)
|
|
|
NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter)
|
rs1577329627
|
|
NM_007217.4(PDCD10):c.396-19T>C
|
|
|
NM_007217.4(PDCD10):c.396-2A>C
|
|
|
NM_007217.4(PDCD10):c.404C>A (p.Ala135Asp)
|
|
|
NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter)
|
rs1719762092
|
|
NM_007217.4(PDCD10):c.430dup (p.Thr144fs)
|
|
|
NM_007217.4(PDCD10):c.442_443del (p.Val148fs)
|
rs2108375192
|
|
NM_007217.4(PDCD10):c.456T>G (p.Tyr152Ter)
|
rs976585767
|
|
NM_007217.4(PDCD10):c.474+4C>A
|
rs1390197622
|
|
NM_007217.4(PDCD10):c.474+4_474+5insACAA
|
|
|
NM_007217.4(PDCD10):c.475-11del
|
rs1396270491
|
|
NM_007217.4(PDCD10):c.475-1G>A
|
rs1577317859
|
|
NM_007217.4(PDCD10):c.475-4del
|
rs772163237
|
|
NM_007217.4(PDCD10):c.475-8G>A
|
|
|
NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter)
|
rs1553759059
|
|
NM_007217.4(PDCD10):c.522_528del (p.Phe174fs)
|
rs2108373966
|
|
NM_007217.4(PDCD10):c.529dup (p.Thr177fs)
|
|
|
NM_007217.4(PDCD10):c.542A>G (p.Tyr181Cys)
|
|
|
NM_007217.4(PDCD10):c.557+1G>A
|
rs747383685
|
|
NM_007217.4(PDCD10):c.557+1G>T
|
|
|
NM_007217.4(PDCD10):c.557+4_557+7del
|
rs1553759042
|
|
NM_007217.4(PDCD10):c.557A>G (p.Lys186Arg)
|
rs1719722974
|
|
NM_007217.4(PDCD10):c.558-2A>C
|
rs1553758385
|
|
NM_007217.4(PDCD10):c.558-2A>G
|
rs1553758385
|
|
NM_007217.4(PDCD10):c.565_566del (p.Asn189fs)
|
rs1719352298
|
|
NM_007217.4(PDCD10):c.573C>T (p.Phe191=)
|
|
|
NM_007217.4(PDCD10):c.575dup (p.Ser193fs)
|
rs1559941951
|
|
NM_007217.4(PDCD10):c.576_579del (p.Ser193fs)
|
rs2108363227
|
|
NM_007217.4(PDCD10):c.584dup (p.Asn195fs)
|
rs1559941903
|
|
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)
|
rs1404676956
|
|
NM_007217.4(PDCD10):c.58A>G (p.Met20Val)
|
|
|
NM_007217.4(PDCD10):c.592dup (p.Ile198fs)
|
|
|
NM_007217.4(PDCD10):c.62_71del (p.Pro21fs)
|
rs2108484048
|
|
NM_007217.4(PDCD10):c.68_69del (p.Tyr23fs)
|
|
|
NM_007217.4(PDCD10):c.71C>T (p.Ala24Val)
|
|
|
NM_007217.4(PDCD10):c.71_85del (p.Ala24_Pro28del)
|
|
|
NM_007217.4(PDCD10):c.73_76dup (p.Met26fs)
|
|
|
NM_007217.4(PDCD10):c.96+5295dup
|
rs890418416
|
|
NM_007217.4(PDCD10):c.97-1G>A
|
|
|
NM_007217.4(PDCD10):c.97_150del
|
rs2108438229
|
|
NM_019004.2(ANKIB1):c.-516CCGGAG[4]
|
rs886062498
|
|
NM_019004.2(ANKIB1):c.-524C>A
|
rs950572905
|
|
NM_019004.2(ANKIB1):c.-603C>G
|
rs932427766
|
|
NM_031443.3(CCM2):c.-613A>G
|
rs1554353188
|
|
NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer)
|
rs2128637642
|
|
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter)
|
rs767248510
|
|
NM_031443.4(CCM2):c.1115T>C (p.Ile372Thr)
|
|
|
NM_031443.4(CCM2):c.1120G>A (p.Val374Met)
|
rs200669376
|
|
NM_031443.4(CCM2):c.1134C>T (p.Arg378=)
|
|
|
NM_031443.4(CCM2):c.1164C>T (p.His388=)
|
|
|
NM_031443.4(CCM2):c.1180A>G (p.Thr394Ala)
|
rs368380083
|
|
NM_031443.4(CCM2):c.1201A>G (p.Asn401Asp)
|
|
|
NM_031443.4(CCM2):c.120C>T (p.Arg40=)
|
|
|
NM_031443.4(CCM2):c.1234dup (p.Arg412fs)
|
rs1331484727
|
|
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)
|
rs1562921605
|
|
NM_031443.4(CCM2):c.1252G>A (p.Gly418Arg)
|
|
|
NM_031443.4(CCM2):c.1278G>A (p.Ser426=)
|
rs371498958
|
|
NM_031443.4(CCM2):c.1299G>A (p.Glu433=)
|
rs1784232769
|
|
NM_031443.4(CCM2):c.130_131del (p.Thr44fs)
|
rs1797324598
|
|
NM_031443.4(CCM2):c.147del (p.Leu49fs)
|
rs2128729172
|
|
NM_031443.4(CCM2):c.151G>T (p.Glu51Ter)
|
rs2128729177
|
|
NM_031443.4(CCM2):c.156C>T (p.Arg52=)
|
|
|
NM_031443.4(CCM2):c.166del (p.Asp56fs)
|
|
|
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)
|
rs1562882049
|
|
NM_031443.4(CCM2):c.169_172del (p.Arg57fs)
|
rs1562882045
|
|
NM_031443.4(CCM2):c.180C>T (p.Ser60=)
|
|
|
NM_031443.4(CCM2):c.193_195del (p.Lys65del)
|
rs1797329314
|
|
NM_031443.4(CCM2):c.199dup (p.Val67fs)
|
|
|
NM_031443.4(CCM2):c.1A>G (p.Met1Val)
|
rs137852842
|
|
NM_031443.4(CCM2):c.204+11A>G
|
|
|
NM_031443.4(CCM2):c.204+3A>C
|
|
|
NM_031443.4(CCM2):c.205-11866_205-11863del
|
rs547206569
|
|
NM_031443.4(CCM2):c.205-18T>G
|
rs2128747278
|
|
NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)
|
rs886041157
|
|
NM_031443.4(CCM2):c.219_220del (p.Leu73fs)
|
rs1562906798
|
|
NM_031443.4(CCM2):c.228dup (p.Pro77fs)
|
rs2128747319
|
|
NM_031443.4(CCM2):c.23del (p.Gly8fs)
|
rs1562848466
|
|
NM_031443.4(CCM2):c.288+11C>T
|
|
|
NM_031443.4(CCM2):c.288+1G>A
|
rs1562906981
|
|
NM_031443.4(CCM2):c.288G>T (p.Lys96Asn)
|
|
|
NM_031443.4(CCM2):c.289-14G>A
|
|
|
NM_031443.4(CCM2):c.289-1G>A
|
rs1562907365
|
|
NM_031443.4(CCM2):c.298C>T (p.Gln100Ter)
|
rs1259805013
|
|
NM_031443.4(CCM2):c.30+1G>A
|
rs1562848479
|
|
NM_031443.4(CCM2):c.30+4465C>T
|
rs1554354900
|
|
NM_031443.4(CCM2):c.30+5G>T
|
|
|
NM_031443.4(CCM2):c.30+5_30+6delinsTT
|
rs797044623
|
|
NM_031443.4(CCM2):c.305dup (p.His104fs)
|
rs2128747608
|
|
NM_031443.4(CCM2):c.30G>A (p.Lys10=)
|
rs1583819255
|
|
NM_031443.4(CCM2):c.31-14G>A
|
|
|
NM_031443.4(CCM2):c.31-1G>C
|
|
|
NM_031443.4(CCM2):c.31-2A>G
|
rs1554365507
|
|
NM_031443.4(CCM2):c.317C>T (p.Thr106Ile)
|
rs1798672293
|
|
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)
|
rs137852841
|
|
NM_031443.4(CCM2):c.344T>G (p.Leu115Arg)
|
rs2128747658
|
|
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro)
|
rs1562907616
|
|
NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter)
|
rs765548101
|
|
NM_031443.4(CCM2):c.357C>T (p.Asn119=)
|
|
|
NM_031443.4(CCM2):c.358_359delinsAA (p.Val120Asn)
|
|
|
NM_031443.4(CCM2):c.369dup (p.Trp124fs)
|
|
|
NM_031443.4(CCM2):c.400del (p.Val134fs)
|
rs2128747719
|
|
NM_031443.4(CCM2):c.402_405dup (p.Ile136fs)
|
rs1583970495
|
|
NM_031443.4(CCM2):c.419C>A (p.Ala140Asp)
|
rs1208759821
|
|
NM_031443.4(CCM2):c.424G>A (p.Val142Ile)
|
|
|
NM_031443.4(CCM2):c.428_430del (p.Ser143del)
|
rs1562907973
|
|
NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)
|
rs1554365511
|
|
NM_031443.4(CCM2):c.434T>G (p.Val145Gly)
|
|
|
NM_031443.4(CCM2):c.436C>T (p.Arg146Trp)
|
|
|
NM_031443.4(CCM2):c.438G>A (p.Arg146=)
|
rs1280936139
|
|
NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)
|
|
|
NM_031443.4(CCM2):c.467del (p.Lys156fs)
|
|
|
NM_031443.4(CCM2):c.472+13A>G
|
|
|
NM_031443.4(CCM2):c.472+17G>C
|
rs1447843130
|
|
NM_031443.4(CCM2):c.472+1G>C
|
rs745710633
|
|
NM_031443.4(CCM2):c.473-2A>G
|
rs1798890807
|
|
NM_031443.4(CCM2):c.487A>G (p.Ile163Val)
|
|
|
NM_031443.4(CCM2):c.48A>G (p.Pro16=)
|
|
|
NM_031443.4(CCM2):c.499C>T (p.Gln167Ter)
|
|
|
NM_031443.4(CCM2):c.499_500del (p.Gln167fs)
|
|
|
NM_031443.4(CCM2):c.50_54del (p.Phe17fs)
|
|
|
NM_031443.4(CCM2):c.526G>A (p.Gly176Ser)
|
rs2128749861
|
|
NM_031443.4(CCM2):c.528_532del (p.Leu177fs)
|
rs2128749865
|
|
NM_031443.4(CCM2):c.544C>T (p.Leu182=)
|
|
|
NM_031443.4(CCM2):c.549G>A (p.Ser183=)
|
|
|
NM_031443.4(CCM2):c.559G>T (p.Val187Phe)
|
|
|
NM_031443.4(CCM2):c.55C>A (p.Arg19=)
|
|
|
NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)
|
rs1562912426
|
|
NM_031443.4(CCM2):c.593T>G (p.Leu198Arg)
|
rs137852843
|
|
NM_031443.4(CCM2):c.609+18C>A
|
|
|
NM_031443.4(CCM2):c.609+18C>T
|
rs201140198
|
|
NM_031443.4(CCM2):c.609G>A (p.Lys203=)
|
rs1562912528
|
|
NM_031443.4(CCM2):c.610-1G>A
|
rs1562913873
|
|
NM_031443.4(CCM2):c.617C>A (p.Ala206Glu)
|
rs777710102
|
|
NM_031443.4(CCM2):c.631del (p.Cys211fs)
|
|
|
NM_031443.4(CCM2):c.635T>C (p.Leu212Pro)
|
rs1554377652
|
|
NM_031443.4(CCM2):c.636G>T (p.Leu212=)
|
|
|
NM_031443.4(CCM2):c.638T>C (p.Leu213Pro)
|
rs1583983649
|
|
NM_031443.4(CCM2):c.643C>T (p.Gln215Ter)
|
rs1798970889
|
|
NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)
|
|
|
NM_031443.4(CCM2):c.652del (p.Gln218fs)
|
|
|
NM_031443.4(CCM2):c.663del (p.Val220_Tyr221insTer)
|
|
|
NM_031443.4(CCM2):c.677T>G (p.Ile226Ser)
|
|
|
NM_031443.4(CCM2):c.679G>A (p.Asp227Asn)
|
rs770430978
|
|
NM_031443.4(CCM2):c.684T>C (p.Phe228=)
|
|
|
NM_031443.4(CCM2):c.698T>C (p.Ile233Thr)
|
rs1798975615
|
|
NM_031443.4(CCM2):c.71del (p.Gly24fs)
|
rs1562881854
|
|
NM_031443.4(CCM2):c.732G>A (p.Leu244=)
|
|
|
NM_031443.4(CCM2):c.745+19G>A
|
|
|
NM_031443.4(CCM2):c.745+1G>C
|
rs1583984070
|
|
NM_031443.4(CCM2):c.745+2T>C
|
rs1798979994
|
|
NM_031443.4(CCM2):c.746-17C>T
|
|
|
NM_031443.4(CCM2):c.766G>A (p.Asp256Asn)
|
|
|
NM_031443.4(CCM2):c.783C>T (p.Tyr261=)
|
|
|
NM_031443.4(CCM2):c.790del (p.Glu264fs)
|
rs1562917629
|
|
NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)
|
rs1795541254
|
|
NM_031443.4(CCM2):c.803+1G>A
|
|
|
NM_031443.4(CCM2):c.804-14A>T
|
|
|
NM_031443.4(CCM2):c.806G>T (p.Cys269Phe)
|
rs2128752334
|
|
NM_031443.4(CCM2):c.83_87del (p.Arg28fs)
|
rs2128729105
|
|
NM_031443.4(CCM2):c.885C>T (p.Ala295=)
|
|
|
NM_031443.4(CCM2):c.915+16A>G
|
|
|
NM_031443.4(CCM2):c.915+2T>C
|
|
|
NM_031443.4(CCM2):c.916-1G>T
|
|
|
NM_031443.4(CCM2):c.916-3C>T
|
rs373072247
|
|
NM_031443.4(CCM2):c.916-7C>G
|
rs551511374
|
|
NM_031443.4(CCM2):c.916-7C>T
|
|
|
NM_031443.4(CCM2):c.926A>G (p.Lys309Arg)
|
|
|
NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)
|
|
|
NM_031443.4(CCM2):c.93del (p.Ala32fs)
|
rs2128729110
|
|
NM_031443.4(CCM2):c.958G>T (p.Ala320Ser)
|
|
|
NM_031443.4(CCM2):c.970G>T (p.Glu324Ter)
|
rs756276859
|
|
NM_031443.4(CCM2):c.992T>C (p.Ile331Thr)
|
|
|
NM_194454.3(KRIT1):c.*1029T>G
|
rs972529527
|
|
NM_194454.3(KRIT1):c.*102C>T
|
rs1789932075
|
|
NM_194454.3(KRIT1):c.*378dup
|
rs34910226
|
|
NM_194454.3(KRIT1):c.*436C>T
|
rs886062487
|
|
NM_194454.3(KRIT1):c.*450A>T
|
rs1488573456
|
|
NM_194454.3(KRIT1):c.*62A>C
|
rs886062490
|
|
NM_194454.3(KRIT1):c.*859C>T
|
rs1789797274
|
|
NM_194454.3(KRIT1):c.*8G>A
|
rs1789950973
|
|
NM_194454.3(KRIT1):c.*918C>T
|
rs1789789119
|
|
NM_194454.3(KRIT1):c.-307A>T
|
rs886062492
|
|
NM_194454.3(KRIT1):c.-394C>T
|
rs886062493
|
|
NM_194454.3(KRIT1):c.-420-276C>G
|
rs886062494
|
|
NM_194454.3(KRIT1):c.-421+240C>G
|
rs886062495
|
|
NM_194454.3(KRIT1):c.-525G>T
|
rs571563061
|
|
NM_194454.3(KRIT1):c.102+1G>A
|
rs2131773689
|
|
NM_194454.3(KRIT1):c.1023A>G (p.Leu341=)
|
|
|
NM_194454.3(KRIT1):c.1027A>T (p.Lys343Ter)
|
rs2131527403
|
|
NM_194454.3(KRIT1):c.103-6T>G
|
|
|
NM_194454.3(KRIT1):c.103-7A>T
|
|
|
NM_194454.3(KRIT1):c.1084del (p.Ala362fs)
|
rs1554518541
|
|
NM_194454.3(KRIT1):c.1088del (p.Ala363fs)
|
|
|
NM_194454.3(KRIT1):c.1096G>A (p.Gly366Arg)
|
|
|
NM_194454.3(KRIT1):c.1096_1102del (p.Gly366fs)
|
|
|
NM_194454.3(KRIT1):c.1097del (p.Gly366fs)
|
rs2131526402
|
|
NM_194454.3(KRIT1):c.1099dup (p.His367fs)
|
rs2131526298
|
|
NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs)
|
rs1796247872
|
|
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter)
|
rs780114710
|
|
NM_194454.3(KRIT1):c.1117A>G (p.Ile373Val)
|
|
|
NM_194454.3(KRIT1):c.1127A>T (p.Asn376Ile)
|
|
|
NM_194454.3(KRIT1):c.1140_1143del (p.Arg382fs)
|
rs2131525596
|
|
NM_194454.3(KRIT1):c.1144dup (p.Arg382fs)
|
rs1554518386
|
|
NM_194454.3(KRIT1):c.1145G>A (p.Arg382Lys)
|
|
|
NM_194454.3(KRIT1):c.1145del (p.Arg382fs)
|
|
|
NM_194454.3(KRIT1):c.1146+1G>A
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1146+1G>T
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1147-13C>G
|
rs779465895
|
|
NM_194454.3(KRIT1):c.1147-20dup
|
|
|
NM_194454.3(KRIT1):c.1150A>G (p.Ile384Val)
|
|
|
NM_194454.3(KRIT1):c.1150del (p.His383_Ile384insTer)
|
|
|
NM_194454.3(KRIT1):c.1159C>T (p.Gln387Ter)
|
rs2131511667
|
|
NM_194454.3(KRIT1):c.1162C>T (p.Gln388Ter)
|
rs1796087833
|
|
NM_194454.3(KRIT1):c.1175dup (p.Leu393fs)
|
rs2131511337
|
|
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter)
|
rs1331502949
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_194454.3(KRIT1):c.1204_1208del (p.Asn402fs)
|
rs1563275562
|
|
NM_194454.3(KRIT1):c.120del (p.Ile42fs)
|
|
|
NM_194454.3(KRIT1):c.1211G>A (p.Trp404Ter)
|
rs2131510675
|
|
NM_194454.3(KRIT1):c.1212G>A (p.Trp404Ter)
|
rs2131510638
|
|
NM_194454.3(KRIT1):c.1214_1215dup (p.Glu406fs)
|
|
|
NM_194454.3(KRIT1):c.1249A>T (p.Lys417Ter)
|
|
|
NM_194454.3(KRIT1):c.1254del (p.Tyr419fs)
|
|
|
NM_194454.3(KRIT1):c.1255-1G>A
|
rs1563267100
|
|
NM_194454.3(KRIT1):c.1255-1_1256del
|
rs1554514380
|
|
NM_194454.3(KRIT1):c.1255-2A>G
|
rs1795437460
|
|
NM_194454.3(KRIT1):c.1255_1270del16 (p.Glu420fs)
|
rs2131455281
|
|
NM_194454.3(KRIT1):c.125T>C (p.Ile42Thr)
|
rs778226731
|
|
NM_194454.3(KRIT1):c.1261A>T (p.Lys421Ter)
|
|
|
NM_194454.3(KRIT1):c.1263del (p.Val422fs)
|
rs1795435288
|
|
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)
|
rs886039402
|
|
NM_194454.3(KRIT1):c.1268G>A (p.Arg423Gln)
|
rs778239873
|
|
NM_194454.3(KRIT1):c.126T>C (p.Ile42=)
|
|
|
NM_194454.3(KRIT1):c.1281_1282dup (p.Asp428fs)
|
rs1795430058
|
|
NM_194454.3(KRIT1):c.1287dup (p.Ser430fs)
|
rs2131454847
|
|
NM_194454.3(KRIT1):c.1297del (p.Ser433fs)
|
rs2131454682
|
|
NM_194454.3(KRIT1):c.1299T>G (p.Ser433=)
|
|
|
NM_194454.3(KRIT1):c.1302T>A (p.Val434=)
|
|
|
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs)
|
rs1563266658
|
|
NM_194454.3(KRIT1):c.1326C>T (p.Thr442=)
|
rs150912644
|
|
NM_194454.3(KRIT1):c.1329A>G (p.Thr443=)
|
|
|
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter)
|
rs2131454006
|
|
NM_194454.3(KRIT1):c.1336C>T (p.Gln446Ter)
|
rs2131453888
|
|
NM_194454.3(KRIT1):c.1342A>G (p.Met448Val)
|
|
|
NM_194454.3(KRIT1):c.1342del (p.Met448fs)
|
rs1584881309
|
|
NM_194454.3(KRIT1):c.1355G>T (p.Arg452Leu)
|
rs201272513
|
|
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs)
|
rs1180476377
|
|
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
|
rs267607203
|
|
NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu)
|
rs138431665
|
|
NM_194454.3(KRIT1):c.1371_1372del (p.Gln458fs)
|
rs1795413179
|
|
NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter)
|
rs1563266163
|
|
NM_194454.3(KRIT1):c.1373del (p.Gln458fs)
|
rs1563266147
|
|
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
|
|
|
NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)
|
|
|
NM_194454.3(KRIT1):c.1389_1390del (p.Ile463fs)
|
rs2131452462
|
|
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)
|
rs1563265959
|
|
NM_194454.3(KRIT1):c.1392G>A (p.Trp464Ter)
|
rs997111087
|
|
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)
|
rs1554513911
|
|
NM_194454.3(KRIT1):c.1400C>G (p.Ser467Ter)
|
rs1554513911
|
|
NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu)
|
rs1554513911
|
|
NM_194454.3(KRIT1):c.1411+14T>C
|
rs1450901829
|
|
NM_194454.3(KRIT1):c.1411+20_1411+24del
|
rs886038758
|
|
NM_194454.3(KRIT1):c.1411+2_1411+5del
|
|
|
NM_194454.3(KRIT1):c.1412-1G>T
|
rs1554513070
|
|
NM_194454.3(KRIT1):c.1412-2A>C
|
rs1563264113
|
|
NM_194454.3(KRIT1):c.1412-3C>G
|
|
|
NM_194454.3(KRIT1):c.1417C>T (p.Gln473Ter)
|
rs1554513061
|
|
NM_194454.3(KRIT1):c.1419A>C (p.Gln473His)
|
rs748732288
|
|
NM_194454.3(KRIT1):c.1419A>G (p.Gln473=)
|
rs748732288
|
|
NM_194454.3(KRIT1):c.1423A>T (p.Lys475Ter)
|
|
|
NM_194454.3(KRIT1):c.1437_1438del (p.Lys479fs)
|
rs1563263905
|
|
NM_194454.3(KRIT1):c.143del (p.Lys48fs)
|
rs776245507
|
|
NM_194454.3(KRIT1):c.143dup (p.Arg49fs)
|
rs776245507
|
|
NM_194454.3(KRIT1):c.1440C>T (p.Pro480=)
|
rs1321821110
|
|
NM_194454.3(KRIT1):c.1444C>T (p.Gln482Ter)
|
rs747380313
|
|
NM_194454.3(KRIT1):c.1446dup (p.His483fs)
|
rs2131437372
|
|
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)
|
rs1057518665
|
|
NM_194454.3(KRIT1):c.1480T>C (p.Leu494=)
|
|
|
NM_194454.3(KRIT1):c.1498C>T (p.Gln500Ter)
|
|
|
NM_194454.3(KRIT1):c.150_151del (p.Lys51fs)
|
|
|
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter)
|
rs1563263366
|
|
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs)
|
rs886041209
|
|
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)
|
rs1057517754
|
|
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs)
|
rs886039400
|
|
NM_194454.3(KRIT1):c.1545del (p.Leu516fs)
|
rs1554512658
|
|
NM_194454.3(KRIT1):c.1549G>T (p.Glu517Ter)
|
|
|
NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter)
|
rs1584873058
|
|
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)
|
rs2131435199
|
|
NM_194454.3(KRIT1):c.1563+1G>A
|
rs549591728
|
|
NM_194454.3(KRIT1):c.1563G>A (p.Gln521=)
|
rs1563263055
|
|
NM_194454.3(KRIT1):c.1564-1G>A
|
|
|
NM_194454.3(KRIT1):c.1564-2A>T
|
|
|
NM_194454.3(KRIT1):c.1574del (p.Pro525fs)
|
rs1584807148
|
|
NM_194454.3(KRIT1):c.1596_1606del (p.Phe532fs)
|
|
|
NM_194454.3(KRIT1):c.1600G>A (p.Glu534Lys)
|
|
|
NM_194454.3(KRIT1):c.1616T>G (p.Leu539Ter)
|
rs1563245596
|
|
NM_194454.3(KRIT1):c.1631A>G (p.Tyr544Cys)
|
|
|
NM_194454.3(KRIT1):c.1664C>T (p.Ala555Val)
|
rs2131326892
|
|
NM_194454.3(KRIT1):c.1680A>G (p.Gln560=)
|
|
|
NM_194454.3(KRIT1):c.1683_1695del (p.Val562fs)
|
rs1554504519
|
|
NM_194454.3(KRIT1):c.1687T>C (p.Tyr563His)
|
rs2131326573
|
|
NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)
|
|
|
NM_194454.3(KRIT1):c.168G>A (p.Thr56=)
|
|
|
NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer)
|
rs1554504484
|
|
NM_194454.3(KRIT1):c.1705A>T (p.Lys569Ter)
|
rs2131326255
|
|
NM_194454.3(KRIT1):c.1710del (p.Lys570fs)
|
rs1563244807
|
|
NM_194454.3(KRIT1):c.1713_1714del (p.His571fs)
|
rs2131326123
|
|
NM_194454.3(KRIT1):c.1717C>G (p.Gln573Glu)
|
|
|
NM_194454.3(KRIT1):c.1717_1720del (p.Gln573fs)
|
|
|
NM_194454.3(KRIT1):c.1721_1730+5del
|
|
|
NM_194454.3(KRIT1):c.1730+1G>A
|
rs2131325903
|
|
NM_194454.3(KRIT1):c.1730+3A>C
|
rs1563244629
|
|
NM_194454.3(KRIT1):c.1730+4_1730+7del
|
rs1563244596
|
|
NM_194454.3(KRIT1):c.1730+5G>A
|
rs1563244618
|
|
NM_194454.3(KRIT1):c.1730+6T>G
|
rs1554504391
|
|
NM_194454.3(KRIT1):c.1731-14A>C
|
|
|
NM_194454.3(KRIT1):c.1731-2A>G
|
rs886039571
|
|
NM_194454.3(KRIT1):c.1731-3C>G
|
|
|
NM_194454.3(KRIT1):c.1732G>T (p.Glu578Ter)
|
|
|
NM_194454.3(KRIT1):c.1739dup (p.Asn580fs)
|
rs1563243016
|
|
NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs)
|
rs1584800138
|
|
NM_194454.3(KRIT1):c.1742dup (p.Ser583fs)
|
|
|
NM_194454.3(KRIT1):c.1747_1756del (p.Ser583fs)
|
|
|
NM_194454.3(KRIT1):c.1753G>A (p.Val585Ile)
|
|
|
NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter)
|
rs1554503702
|
|
NM_194454.3(KRIT1):c.1771A>G (p.Lys591Glu)
|
rs2131316490
|
|
NM_194454.3(KRIT1):c.1775G>C (p.Ser592Thr)
|
|
|
NM_194454.3(KRIT1):c.1790G>A (p.Trp597Ter)
|
|
|
NM_194454.3(KRIT1):c.1791G>A (p.Trp597Ter)
|
rs2131316175
|
|
NM_194454.3(KRIT1):c.1793dup (p.Asn599fs)
|
|
|
NM_194454.3(KRIT1):c.1796A>G (p.Asn599Ser)
|
rs954641073
|
|
NM_194454.3(KRIT1):c.1807del (p.His603fs)
|
rs886039572
|
|
NM_194454.3(KRIT1):c.1813T>C (p.Tyr605His)
|
|
|
NM_194454.3(KRIT1):c.1817_1818insTT (p.Lys606fs)
|
|
|
NM_194454.3(KRIT1):c.1818+1G>A
|
rs2131315805
|
|
NM_194454.3(KRIT1):c.1818+3A>C
|
|
|
NM_194454.3(KRIT1):c.1819-1G>A
|
rs1793304372
|
|
NM_194454.3(KRIT1):c.1854dup (p.His619fs)
|
rs1793298143
|
|
NM_194454.3(KRIT1):c.1859del (p.His620fs)
|
rs2131309299
|
|
NM_194454.3(KRIT1):c.1860C>T (p.His620=)
|
|
|
NM_194454.3(KRIT1):c.1867dup (p.Arg623fs)
|
rs2131309179
|
|
NM_194454.3(KRIT1):c.186del (p.Ser62fs)
|
|
|
NM_194454.3(KRIT1):c.1877T>A (p.Leu626Ter)
|
|
|
NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)
|
rs2131309013
|
|
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter)
|
rs1554503009
|
|
NM_194454.3(KRIT1):c.1905T>G (p.Tyr635Ter)
|
|
|
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)
|
rs1563240592
|
|
NM_194454.3(KRIT1):c.1927_1928del (p.Gln643fs)
|
rs2131308345
|
|
NM_194454.3(KRIT1):c.1932_1933del (p.Phe645fs)
|
|
|
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs)
|
rs1554502927
|
|
NM_194454.3(KRIT1):c.1933_1936dup (p.Thr646fs)
|
|
|
NM_194454.3(KRIT1):c.1935del (p.Phe645fs)
|
|
|
NM_194454.3(KRIT1):c.1940del (p.Lys647fs)
|
rs2131308132
|
|
NM_194454.3(KRIT1):c.1942G>A (p.Ala648Thr)
|
|
|
NM_194454.3(KRIT1):c.1943C>T (p.Ala648Val)
|
rs2131308052
|
|
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs)
|
rs1064793348
|
|
NM_194454.3(KRIT1):c.1959_1960insC (p.Lys654fs)
|
rs2131307878
|
|
NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)
|
rs771656368
|
|
NM_194454.3(KRIT1):c.1974G>A (p.Val658=)
|
rs780889522
|
|
NM_194454.3(KRIT1):c.1976A>G (p.Tyr659Cys)
|
|
|
NM_194454.3(KRIT1):c.1980_1981delinsGT (p.Gly661Ter)
|
rs2131307481
|
|
NM_194454.3(KRIT1):c.1A>G (p.Met1Val)
|
rs1554539120
|
|
NM_194454.3(KRIT1):c.2024del (p.Lys675fs)
|
rs1793254982
|
|
NM_194454.3(KRIT1):c.2025+1G>A
|
|
|
NM_194454.3(KRIT1):c.2025+1G>T
|
|
|
NM_194454.3(KRIT1):c.2025+3A>G
|
|
|
NM_194454.3(KRIT1):c.2025G>C (p.Lys675Asn)
|
|
|
NM_194454.3(KRIT1):c.2026-20del
|
rs763882887
|
|
NM_194454.3(KRIT1):c.2030T>A (p.Leu677Ter)
|
|
|
NM_194454.3(KRIT1):c.2030dup (p.Leu677fs)
|
|
|
NM_194454.3(KRIT1):c.2038dup (p.Ser680fs)
|
|
|
NM_194454.3(KRIT1):c.2043del (p.Lys682fs)
|
rs1563212150
|
|
NM_194454.3(KRIT1):c.2049T>G (p.Tyr683Ter)
|
rs2131089190
|
|
NM_194454.3(KRIT1):c.2058del (p.Phe686fs)
|
|
|
NM_194454.3(KRIT1):c.2061G>A (p.Met687Ile)
|
|
|
NM_194454.3(KRIT1):c.2064G>A (p.Trp688Ter)
|
rs2131088953
|
|
NM_194454.3(KRIT1):c.2065C>T (p.Gln689Ter)
|
rs1790098079
|
|
NM_194454.3(KRIT1):c.206T>A (p.Leu69Ter)
|
rs1799516672
|
|
NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1])
|
rs764839013
|
|
NM_194454.3(KRIT1):c.2081del (p.Asp694fs)
|
rs1790094262
|
|
NM_194454.3(KRIT1):c.2084_2142+81del
|
|
|
NM_194454.3(KRIT1):c.208dup (p.Asp70fs)
|
rs1799515896
|
|
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)
|
rs1563211627
|
|
NM_194454.3(KRIT1):c.2100_2101dup (p.Ser701fs)
|
rs2131088062
|
|
NM_194454.3(KRIT1):c.2113A>T (p.Lys705Ter)
|
rs2131087886
|
|
NM_194454.3(KRIT1):c.2119_2120del (p.Ser707fs)
|
rs1554490317
|
|
NM_194454.3(KRIT1):c.2122_2123insAAAT (p.Phe708Ter)
|
rs1790085048
|
|
NM_194454.3(KRIT1):c.2134del (p.Thr712fs)
|
rs2131087593
|
|
NM_194454.3(KRIT1):c.213C>T (p.Tyr71=)
|
|
|
NM_194454.3(KRIT1):c.2142+1G>C
|
rs1790081665
|
|
NM_194454.3(KRIT1):c.2143-1G>A
|
rs1554489785
|
|
NM_194454.3(KRIT1):c.2143-2A>T
|
|
|
NM_194454.3(KRIT1):c.2165T>A (p.Leu722Ter)
|
rs2131078017
|
|
NM_194454.3(KRIT1):c.228C>T (p.Thr76=)
|
|
|
NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg)
|
rs1799505965
|
|
NM_194454.3(KRIT1):c.250C>T (p.Gln84Ter)
|
rs751651833
|
|
NM_194454.3(KRIT1):c.254del (p.Gly85fs)
|
|
|
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)
|
rs1563313372
|
|
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg)
|
rs1057521140
|
|
NM_194454.3(KRIT1):c.30A>G (p.Ala10=)
|
|
|
NM_194454.3(KRIT1):c.382G>T (p.Gly128Ter)
|
rs2131676374
|
|
NM_194454.3(KRIT1):c.386G>A (p.Cys129Tyr)
|
rs764760437
|
|
NM_194454.3(KRIT1):c.387C>T (p.Cys129=)
|
rs2131676285
|
|
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs)
|
rs757560062
|
|
NM_194454.3(KRIT1):c.404T>A (p.Leu135Ter)
|
|
|
NM_194454.3(KRIT1):c.405A>C (p.Leu135Phe)
|
|
|
NM_194454.3(KRIT1):c.406C>T (p.Gln136Ter)
|
|
|
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)
|
rs137853139
|
|
NM_194454.3(KRIT1):c.421G>A (p.Val141Ile)
|
rs2131675934
|
|
NM_194454.3(KRIT1):c.443A>G (p.His148Arg)
|
rs2131675658
|
|
NM_194454.3(KRIT1):c.451A>G (p.Thr151Ala)
|
rs774330517
|
|
NM_194454.3(KRIT1):c.47G>C (p.Arg16Pro)
|
rs1313893193
|
|
NM_194454.3(KRIT1):c.482A>G (p.Asp161Gly)
|
rs1563309238
|
|
NM_194454.3(KRIT1):c.485+12C>T
|
|
|
NM_194454.3(KRIT1):c.485+13G>A
|
|
|
NM_194454.3(KRIT1):c.485+13G>T
|
|
|
NM_194454.3(KRIT1):c.486-1G>T
|
|
|
NM_194454.3(KRIT1):c.486-2A>G
|
rs965713946
|
|
NM_194454.3(KRIT1):c.491T>C (p.Leu164Ser)
|
rs1739707829
|
|
NM_194454.3(KRIT1):c.492A>T (p.Leu164Phe)
|
rs2131664007
|
|
NM_194454.3(KRIT1):c.506C>G (p.Ala169Gly)
|
|
|
NM_194454.3(KRIT1):c.508C>T (p.Gln170Ter)
|
|
|
NM_194454.3(KRIT1):c.525A>G (p.Pro175=)
|
rs753361614
|
|
NM_194454.3(KRIT1):c.536G>A (p.Arg179Gln)
|
|
|
NM_194454.3(KRIT1):c.542CTC[1] (p.Pro182del)
|
|
|
NM_194454.3(KRIT1):c.567T>C (p.Asn189=)
|
|
|
NM_194454.3(KRIT1):c.570_583del (p.Ile191fs)
|
rs1798258547
|
|
NM_194454.3(KRIT1):c.594A>G (p.Glu198=)
|
|
|
NM_194454.3(KRIT1):c.596C>G (p.Ser199Ter)
|
rs2131662647
|
|
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)
|
rs137853140
|
|
NM_194454.3(KRIT1):c.601C>T (p.Gln201Ter)
|
|
|
NM_194454.3(KRIT1):c.612C>T (p.Asn204=)
|
|
|
NM_194454.3(KRIT1):c.615A>G (p.Ser205=)
|
rs2131662377
|
|
NM_194454.3(KRIT1):c.629dup (p.Tyr210Ter)
|
rs2131662142
|
|
NM_194454.3(KRIT1):c.636A>G (p.Ala212=)
|
|
|
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu)
|
rs1563305909
|
|
NM_194454.3(KRIT1):c.646A>T (p.Lys216Ter)
|
|
|
NM_194454.3(KRIT1):c.646_647del (p.Lys216fs)
|
rs1798246011
|
|
NM_194454.3(KRIT1):c.649_661del (p.Ser217fs)
|
rs1798241938
|
|
NM_194454.3(KRIT1):c.652_653insGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGTA (p.Lys218delinsSerSerArgLeuTer)
|
|
|
NM_194454.3(KRIT1):c.659dup (p.Leu220fs)
|
rs1584981589
|
|
NM_194454.3(KRIT1):c.673G>A (p.Ala225Thr)
|
|
|
NM_194454.3(KRIT1):c.674del (p.Ala225fs)
|
rs1563305648
|
|
NM_194454.3(KRIT1):c.68T>G (p.Leu23Arg)
|
rs1799792039
|
|
NM_194454.3(KRIT1):c.695del (p.Pro232fs)
|
rs1798228728
|
|
NM_194454.3(KRIT1):c.707C>A (p.Ser236Ter)
|
rs1563305269
|
|
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_194454.3(KRIT1):c.728G>A (p.Arg243Gln)
|
|
|
NM_194454.3(KRIT1):c.729+1G>A
|
rs1563305064
|
|
NM_194454.3(KRIT1):c.729+1G>T
|
rs1563305064
|
|
NM_194454.3(KRIT1):c.729+211T>A
|
rs1344083775
|
|
NM_194454.3(KRIT1):c.729+2T>C
|
rs1554528541
|
|
NM_194454.3(KRIT1):c.729+2T>G
|
|
|
NM_194454.3(KRIT1):c.729+5G>C
|
rs1468613071
|
|
NM_194454.3(KRIT1):c.729G>C (p.Arg243=)
|
rs749407592
|
|
NM_194454.3(KRIT1):c.730-12_730-11insGAACCTGGGAGGCGGAGGTTGCAGTGTGCTGAGATCGCACACTGCGA
|
|
|
NM_194454.3(KRIT1):c.730-1G>A
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.730-1G>C
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.730-2A>G
|
rs1554527925
|
|
NM_194454.3(KRIT1):c.730-4del
|
|
|
NM_194454.3(KRIT1):c.733_736del (p.Asp245fs)
|
rs2131647862
|
|
NM_194454.3(KRIT1):c.747_750del (p.Asn250fs)
|
rs1584976350
|
|
NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys)
|
rs1798075445
|
|
NM_194454.3(KRIT1):c.780C>G (p.Tyr260Ter)
|
|
|
NM_194454.3(KRIT1):c.782C>G (p.Ser261Ter)
|
rs1554527817
|
|
NM_194454.3(KRIT1):c.787dup (p.Ile263fs)
|
rs1798067945
|
|
NM_194454.3(KRIT1):c.790_818del (p.Gln264fs)
|
|
|
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter)
|
rs886039659
|
|
NM_194454.3(KRIT1):c.810dup (p.Trp271fs)
|
rs1584975743
|
|
NM_194454.3(KRIT1):c.812G>A (p.Trp271Ter)
|
rs1554527779
|
|
NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter)
|
|
|
NM_194454.3(KRIT1):c.815_816insTA (p.Gln272fs)
|
|
|
NM_194454.3(KRIT1):c.842del (p.Asp281fs)
|
rs1563302951
|
|
NM_194454.3(KRIT1):c.845+10C>G
|
rs372125478
|
|
NM_194454.3(KRIT1):c.845+1G>A
|
rs1563302941
|
|
NM_194454.3(KRIT1):c.845+2T>A
|
rs1563302930
|
|
NM_194454.3(KRIT1):c.845+2T>C
|
rs1563302930
|
|
NM_194454.3(KRIT1):c.847G>T (p.Glu283Ter)
|
|
|
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)
|
|
|
NM_194454.3(KRIT1):c.859del (p.Trp286_Val287insTer)
|
rs1797999551
|
|
NM_194454.3(KRIT1):c.875_876del (p.Leu292fs)
|
rs2131643055
|
|
NM_194454.3(KRIT1):c.877del (p.His293fs)
|
|
|
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)
|
rs764960797
|
|
NM_194454.3(KRIT1):c.891T>A (p.Cys297Ter)
|
|
|
NM_194454.3(KRIT1):c.896del (p.Gly299fs)
|
rs1563301954
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_194454.3(KRIT1):c.918T>C (p.Arg306=)
|
rs2131642409
|
|
NM_194454.3(KRIT1):c.935_954del (p.Arg311_Phe312insTer)
|
|
|
NM_194454.3(KRIT1):c.937dup (p.Ser313fs)
|
rs1554527032
|
|
NM_194454.3(KRIT1):c.938C>T (p.Ser313Leu)
|
|
|
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs)
|
|
|
NM_194454.3(KRIT1):c.972dup (p.Ile325fs)
|
|
|
NM_194454.3(KRIT1):c.976_979dup (p.Tyr327fs)
|
rs1326827713
|
|
NM_194454.3(KRIT1):c.981T>G (p.Tyr327Ter)
|
|
|
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)
|
rs267607204
|
|
NM_194454.3(KRIT1):c.989+7G>A
|
rs1326157197
|
|
NM_194454.3(KRIT1):c.990-22GTTT[4]
|
|
|
NM_194454.3(KRIT1):c.990-5T>C
|
|
|
NM_194454.3(KRIT1):c.990G>A (p.Trp330Ter)
|
rs1554518783
|
|
NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys)
|
rs1350475816
|
|
NM_194454.3(KRIT1):c.999del (p.Val334fs)
|
rs1554518750
|
|
NM_194456.1(KRIT1):c.*1335T>C
|
rs17164414
|
|
NM_194456.1(KRIT1):c.*1457T>C
|
rs1789727080
|
|
NM_194456.1(KRIT1):c.*1555A>G
|
rs1789715493
|
|
NM_194456.1(KRIT1):c.*1655T>G
|
rs886062484
|
|
NM_194456.1(KRIT1):c.-632A>C
|
rs1800915586
|
|