ClinVar Miner

List of variants studied for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 779
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

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