ClinVar Miner

List of variants reported as pathogenic for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2345
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HGVS dbSNP gnomAD frequency
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.59489
NM_000129.4(F13A1):c.-19+12= rs2815822 0.11748
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter) rs3211938 0.02669
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NC_000020.11:g.23049706C>T rs13306848 0.00891
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907 0.00161
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00036
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter) rs267606789 0.00032
NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr) rs121964951 0.00029
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_139279.6(MCFD2):c.249del (p.Asp83fs) rs1294221028 0.00022
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000361.3(THBD):c.-151G>T rs16984852 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) rs121918450 0.00016
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala) rs267607353 0.00014
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu) rs782799573 0.00011
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_001025356.3(ANO6):c.1387-1G>T rs374664255 0.00011
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_000130.5(F5):c.1001G>C (p.Arg334Thr) rs118203906 0.00007
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.5291A>G (p.Gln1764Arg) rs374988541 0.00007
NM_000133.4(F9):c.1346G>A (p.Arg449Gln) rs143018900 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs) rs748757906 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr) rs200847393 0.00007
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter) rs62643640 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.802C>T (p.Arg268Cys) rs763496524 0.00005
NM_000129.4(F13A1):c.691-1G>A rs372296352 0.00005
NM_000132.4(F8):c.121G>T (p.Gly41Cys) rs137852379 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000552.5(VWF):c.2635G>A (p.Asp879Asn) rs61748485 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg) rs121913068 0.00004
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000132.4(F8):c.6067G>A (p.Glu2023Lys) rs781886601 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter) rs75427428 0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys) rs370662678 0.00004
NM_000552.5(VWF):c.817C>T (p.Arg273Trp) rs61753997 0.00004
NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter) rs121964949 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_022788.5(P2RY12):c.767G>A (p.Arg256Gln) rs121917885 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000130.5(F5):c.4699_4702dup (p.Ala1568fs) rs773569662 0.00003
NM_000132.4(F8):c.4099A>T (p.Thr1367Ser) rs781812149 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.5806C>T (p.Arg1936Cys) rs781792644 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) rs758633284 0.00003
NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp) rs121918476 0.00003
NM_000313.4(PROS1):c.77-1G>C rs759677822 0.00003
NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln) rs769405222 0.00003
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792 0.00003
NM_000552.5(VWF):c.2279G>A (p.Arg760His) rs61748467 0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter) rs755841847 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) rs121908471 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter) rs281865115 0.00003
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) rs281875276 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000129.4(F13A1):c.980G>A (p.Arg327Gln) rs121913072 0.00002
NM_000132.4(F8):c.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.2215G>A (p.Glu739Lys) rs28937285 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.5381T>A (p.Phe1794Tyr) rs782123880 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000132.4(F8):c.601+1632G>A rs387906429 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000133.4(F9):c.163T>A (p.Phe55Ile) rs759987427 0.00002
NM_000133.4(F9):c.301C>G (p.Pro101Ala) rs137852232 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080 0.00002
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 0.00002
NM_000312.4(PROC):c.1015G>A (p.Val339Met) rs121918158 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00002
NM_001994.3(F13B):c.805+1G>A rs550859190 0.00002
NM_019616.4(F7):c.1158T>G (p.His386Gln) rs121964936 0.00002
NM_019616.4(F7):c.568C>T (p.Arg190Ter) rs756151764 0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys) rs121908475 0.00002
NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys) rs121908469 0.00002
NM_139027.6(ADAMTS13):c.581G>T (p.Gly194Val) rs1554785242 0.00002
NM_181507.2(HPS5):c.543del (p.Gln181fs) rs755827664 0.00002
NC_000013.11:g.113105748C>G rs1263426144 0.00001
NM_000128.4(F11):c.1026G>T (p.Gly342=) rs768894507 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1378T>G (p.Phe460Val) rs121965065 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.326-1G>A rs1057517364 0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.728C>T (p.Ser243Phe) rs1262002209 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000129.4(F13A1):c.1687G>A (p.Gly563Arg) rs121913069 0.00001
NM_000129.4(F13A1):c.2045G>A (p.Arg682His) rs121913064 0.00001
NM_000129.4(F13A1):c.949G>T (p.Val317Phe) rs121913073 0.00001
NM_000130.5(F5):c.1600C>T (p.Arg534Ter) rs770011773 0.00001
NM_000130.5(F5):c.3481C>T (p.Arg1161Ter) rs118203909 0.00001
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys) rs118203907 0.00001
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter) rs201790842 0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000131.4(F7):c.-61T>G rs1367115848 0.00001
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1316G>T (p.Gly439Val) rs1362305882 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.1648C>T (p.Arg550Cys) rs137852417 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5303G>A (p.Arg1768His) rs151202877 0.00001
NM_000132.4(F8):c.5398C>T (p.Arg1800Cys) rs137852443 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.5976G>A (p.Met1992Ile) rs782510443 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His) rs1047644991 0.00001
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser) rs137852374 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.940A>G (p.Thr314Ala) rs137852406 0.00001
NM_000133.4(F9):c.-35G>A rs1166164399 0.00001
NM_000133.4(F9):c.1031T>C (p.Ile344Thr) rs387906482 0.00001
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.31T>A (p.Ser11Thr) rs387906480 0.00001
NM_000133.4(F9):c.354G>A (p.Trp118Ter) rs1234002716 0.00001
NM_000133.4(F9):c.459G>A (p.Val153=) rs144314232 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 0.00001
NM_000133.4(F9):c.890T>A (p.Ile297Asn) rs752084251 0.00001
NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu) rs121912420 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) rs1846158787 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000212.3(ITGB3):c.1288C>T (p.Arg430Ter) rs1458116788 0.00001
NM_000212.3(ITGB3):c.1791del (p.Asn597fs) rs780710721 0.00001
NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr) rs1181336139 0.00001
NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter) rs1399113954 0.00001
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) rs1022839092 0.00001
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) rs77963874 0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406 0.00001
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) rs79208797 0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NM_000212.3(ITGB3):c.777+1G>A rs745766760 0.00001
NM_000212.3(ITGB3):c.79+1G>A rs2064977538 0.00001
NM_000212.3(ITGB3):c.836A>T (p.Lys279Met) rs79775494 0.00001
NM_000212.3(ITGB3):c.856G>A (p.Gly286Arg) rs1199275720 0.00001
NM_000301.5(PLG):c.1120G>T (p.Val374Phe) rs121918028 0.00001
NM_000301.5(PLG):c.2251G>A (p.Gly751Arg) rs121918033 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) rs121918150 0.00001
NM_000312.4(PROC):c.1019C>T (p.Thr340Met) rs766261022 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000312.4(PROC):c.1218G>A (p.Met406Ile) rs780456728 0.00001
NM_000312.4(PROC):c.1335C>G (p.Ile445Met) rs121918157 0.00001
NM_000312.4(PROC):c.400+5G>C rs199469478 0.00001
NM_000312.4(PROC):c.400G>T (p.Glu134Ter) rs1257816310 0.00001
NM_000312.4(PROC):c.445dup (p.His149fs) rs772629538 0.00001
NM_000312.4(PROC):c.446A>C (p.His149Pro) rs121918159 0.00001
NM_000312.4(PROC):c.479G>C (p.Cys160Ser) rs1450037999 0.00001
NM_000312.4(PROC):c.595C>T (p.Arg199Ter) rs1456533664 0.00001
NM_000312.4(PROC):c.629C>T (p.Pro210Leu) rs121918145 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000312.4(PROC):c.935C>T (p.Ser312Leu) rs121918160 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.4(PROS1):c.1996T>C (p.Cys666Arg) rs1302089144 0.00001
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu) rs121918474 0.00001
NM_000361.3(THBD):c.1209G>T (p.Arg403Ser) rs398122807 0.00001
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000412.5(HRG):c.271C>T (p.Pro91Ser) rs761776963 0.00001
NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) rs137852910 0.00001
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) rs1214448436 0.00001
NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) rs75622274 0.00001
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) rs2048591163 0.00001
NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp) rs1261397461 0.00001
NM_000419.5(ITGA2B):c.1752+2T>C rs769156315 0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000419.5(ITGA2B):c.1913dup (p.Cys639fs) rs75028796 0.00001
NM_000419.5(ITGA2B):c.1946+1G>A rs746091910 0.00001
NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg) rs77961246 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) rs79657230 0.00001
NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) rs78657866 0.00001
NM_000419.5(ITGA2B):c.409-1G>A rs1393747638 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000419.5(ITGA2B):c.574+1G>A rs1291613591 0.00001
NM_000419.5(ITGA2B):c.917dup (p.Arg307fs) rs78321762 0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568 0.00001
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr) rs1487411568 0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu) rs1170430756 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) rs1657743081 0.00001
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys) rs758087836 0.00001
NM_000504.4(F10):c.1012G>A (p.Val338Met) rs121964947 0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met) rs768222784 0.00001
NM_000504.4(F10):c.140A>G (p.Glu47Gly) rs121964943 0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly) rs121964944 0.00001
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) rs118204455 0.00001
NM_000506.3(F2):c.1054G>A (p.Glu352Lys) rs121918484 0.00001
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) rs121918478 0.00001
NM_000506.5(F2):c.260A>G (p.Tyr87Cys) rs1227147475 0.00001
NM_000508.3(FGA):c.103C>T (p.Arg35Cys) rs121909606 0.00001
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1239dup (p.Leu414fs) rs770203987 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.311_312del (p.Gln104fs) rs1481396407 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys) rs373787920 0.00001
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln) rs61749385 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.5791C>T (p.Gln1931Ter) rs1359172781 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.7437G>A (p.Ser2479=) rs267607363 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000821.7(GGCX):c.1181T>G (p.Leu394Arg) rs121909675 0.00001
NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter) rs775478465 0.00001
NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter) rs121918131 0.00001
NM_001754.5(RUNX1):c.352-1G>A rs587776809 0.00001
NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter) rs759068561 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) rs724159946 0.00001
NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter) rs779048554 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs) rs762974622 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.615+1G>T rs769452933 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890 0.00001
NM_022788.5(P2RY12):c.793C>T (p.Arg265Trp) rs121917886 0.00001
NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro) rs755459581 0.00001
NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) rs72547528 0.00001
NM_024747.6(HPS6):c.1114C>T (p.Arg372Ter) rs776754431 0.00001
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) rs281865112 0.00001
NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333 0.00001
NM_024747.6(HPS6):c.223C>T (p.Gln75Ter) rs281865107 0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu) rs1478574193 0.00001
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.728_729insA (p.Ser244fs) rs760577035 0.00001
NM_139027.6(ADAMTS13):c.1584+5G>A rs782235228 0.00001
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly) rs121908468 0.00001
NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr) rs121908474 0.00001
NM_139279.6(MCFD2):c.149+5G>A rs387906286 0.00001
NM_139279.6(MCFD2):c.407T>C (p.Ile136Thr) rs137852914 0.00001
NM_172351.3(CD46):c.287-2A>G rs759813089 0.00001
NM_172351.3(CD46):c.820_821del (p.Ser274fs) rs1191117776 0.00001
NM_181507.2(HPS5):c.2593C>T (p.Arg865Ter) rs281865104 0.00001
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro) rs764296457 0.00001
11p15.1 deletion
AT-III Barcelona
AT-III Fontainebleu
AT-III Roma
AT-III Trento
C223R
CD36, G1439C, 1-BP DEL, 1444A
E7D
Exon 5 deletion, about 2 kb
F378L
F8, 23-BP DEL, FS
F8, 89-BP DEL, FS
F8, EX11-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX26DEL
F8, EX5DEL
F8, IVS22 INV
F9, 17747G-A
F9, 17747G-C
F9, EX2-8DEL
F9, EX5-8DEL
F9, GLY367ARG
F9, TRP215TER
GRCh37/hg19 12p13.31(chr12:6127530-6233842)
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
Multiple alleles
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
NC_000001.10:g.(?_169497133)_(169497352_?)del
NC_000001.10:g.(?_173873027)_(173962123_?)del
NC_000001.10:g.(?_173880917)_(173886568_?)del
NC_000001.10:g.(?_173883671)_(173886568_?)del
NC_000001.11:g.(?_173903804)_(173917378_?)del
NC_000001.11:g.160032009G>C rs587776528
NC_000001.11:g.172987296_174843232del
NC_000001.11:g.173501975_175305010del
NC_000001.11:g.173686375_176083118del
NC_000001.11:g.173787361_174223422del
NC_000001.11:g.173848142_174816147del
NC_000001.11:g.173850996_173950174del
NC_000001.11:g.173859535_173926473del
NC_000001.11:g.173878539_174421154del
NC_000001.11:g.173879820_173915405del
NC_000001.11:g.173879820_173925989del
NC_000001.11:g.173881395_174342043del
NC_000001.11:g.173884504_174418717del
NC_000001.11:g.173888460_174138926del
NC_000001.11:g.173888461_173971254del
NC_000001.11:g.173896668_173942868del
NC_000001.11:g.173905922_173905923ins[NC_000006.11:56893618_56896059]
NC_000001.11:g.173908412_173919816dup
NC_000001.11:g.173908511_174102900del
NC_000001.11:g.173912160_174154195del
NC_000001.11:g.173914640_173922032del
NC_000001.11:g.173916704_173935703del
NC_000001.11:g.196706898_196873196del
NC_000002.11:g.(?_127806102)_(129076137_?)del
NC_000002.11:g.(?_128175983)_(128184818_?)del
NC_000002.12:g.127418425T>C rs2104934553
NC_000003.11:g.(?_93593089)_(93845334_?)del
NC_000003.11:g.(?_93595790)_(93596055_?)del
NC_000003.11:g.(?_93597987)_(93598178_?)del
NC_000003.11:g.(?_93605147)_(93617433_?)del
NC_000003.11:g.(?_93615400)_(93617433_?)del
NC_000003.11:g.(?_93629453)_(93692783_?)del
NC_000003.12:g.(?_93874239)_(94053268_?)del
NC_000003.12:g.(?_93879163)_(93879314_?)del
NC_000003.12:g.(?_93924230)_(93973939_?)del
NC_000004.11:g.(?_155484162)_(155493960_?)del
NC_000004.11:g.(?_155506411)_(155510715_155511785)del
NC_000004.11:g.(?_155506426)_(155511895_?)del
NC_000004.11:g.(?_155525322)_(155533809_?)del
NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del
NC_000004.12:g.(186261554_186262508)_(?_186293752)del
NC_000005.10:g.(?_78089373)_(78141339_?)del
NC_000005.9:g.(?_76115008)_(78281071_?)del
NC_000005.9:g.(?_77590256)_(77590403_?)del
NC_000006.11:g.(6146006_6152045)_(6182375_6196029)del
NC_000012.11:g.(6105389_6120782)_(6121297_6122646)del
NC_000012.11:g.(6105389_6120782)_(6220135_6230339)del
NC_000012.11:g.(6153618_6155888)_(6155984_6161708)del
NC_000012.11:g.(6161950_6166021)_(6167211_6172119)del
NC_000012.11:g.(6184718_6204625)_(6204751_6219539)del
NC_000012.11:g.(6204751_6219539)_(6220135_6230339)del
NC_000012.11:g.(6204751_6219539)_(6233842_?)del
NC_000012.11:g.(6220135_6230339)_(6233842_?)del
NC_000012.11:g.(?_6058042)_(6233837_?)del
NC_000012.11:g.(?_6058180)_(6105389_6120781)del
NC_000012.11:g.(?_6058180)_(6233842_?)del
NC_000012.11:g.6128479_6128749delins[NC_000022.10:g.17178616_17178886]
NC_000012.11:g.6128633_6128795delins[NC_000022.10:g.17178770_17178932]
NC_000012.12:g.(?_45216094)_(45367794_45378052)del
NC_000013.11:g.109179481_114327244del
NC_000015.10:g.45592135del
NC_000015.9:g.(?_45884313)_(45898712_?)del
NC_000017.10:g.(?_42454357)_(42456098_?)del
NC_000017.11:g.44385077del
NC_000017.11:g.47296304_47307500del
NC_000021.8:g.(?_36079578)_(37133458_?)del
NC_000021.8:g.(?_36164426)_(36171765_?)del
NC_000021.8:g.(?_36164426)_(36421202_?)del
NC_000021.8:g.(?_36164432)_(36421257_?)del
NC_000021.8:g.(?_36164432)_(37834775_?)del
NC_000021.8:g.(?_36171588)_(36421595_?)del
NC_000021.8:g.(?_36182049)_(36231885_?)del
NC_000021.8:g.(?_36231761)_(36231885_?)del
NC_000021.8:g.(?_36231761)_(36253020_?)del
NC_000021.8:g.(?_36252834)_(36421595_?)del
NC_000021.8:g.(?_36252844)_(36253020_?)del
NC_000021.8:g.(?_36421133)_(36421202_?)del
NC_000021.8:g.35304341_36865875del
NC_000021.8:g.35742772-?_36421202+?del
NC_000021.9:g.(?_34787801)_(34799462_?)del
NC_000021.9:g.(?_34787801)_(35048958_?)del
NC_000021.9:g.(?_34792125)_(34892973_?)del
NC_000021.9:g.(?_34799291)_(35049298_?)del
NC_000021.9:g.(?_34880547)_(34880723_?)del
NC_000021.9:g.(?_35048832)_(35049298_?)del
NC_000021.9:g.(?_35048836)_(35048905_?)del
NC_000023.10:g.(154091503_154124351)_(154227876_154250684)dup
NC_000023.10:g.(154091503_154124351)_(154250999_?)del
NC_000023.10:g.(154133299_154134694)_(154134849_154156845)del
NC_000023.10:g.(154134849_154156845)_(154159952_154175972)dup
NC_000023.10:g.(154159952_154175972)_(154176183_154182166)dup
NC_000023.10:g.(154159952_154175972)_(154197828_154212961)del
NC_000023.10:g.(?_138612860)_(138613021_?)del
NC_000023.10:g.(?_138612860)_(139587225_?)del
NC_000023.10:g.(?_138612923)_(138619546_138623234)del
NC_000023.10:g.(?_138633201)_(138633443_?)del
NC_000023.10:g.(?_46618120)_(48549553_?)del
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.10:g.154182167_154227754inv
NC_000023.11:g.(154805077_154806947)_(155030999_?)del
NC_000023.11:g.(154863228_154896077)_(155022724_?)del
NC_000023.11:g.(154930804_?)_(?_154933516)del
NC_000023.11:g.(154959165_?)_(?_154963500)del
NC_000023.11:g.(154969553_154984686)_(155022724_?)del
NC_000023.11:g.(154974508_154984686)_(154984804_154986431)del
NC_000023.11:g.(154986438_154987103)_(154997096_154997956)del
NC_000023.11:g.(?_139530701)_(139563439_?)del
NC_000023.11:g.(?_139530738)_(139530853_139537009)del
NC_000023.11:g.(?_139530739)_(139563459_?)del
NC_000023.11:g.(?_139530759)_(139562076_?)del
NC_000023.11:g.(?_139541049)_(139563439_?)del
NC_000023.11:g.(?_154835791)_(154837753_154860431)del
NC_000023.11:g.(?_154835791)_(154837753_?)del
NC_000023.11:g.(?_154835791_(154905024_154906419)del
NC_000023.11:g.(?_154931495)_(154989517_154990580)del
NC_000023.11:g.(?_155022409)_(155022724_?)del
NC_000023.11:g.154161393_154377600dup
NC_000023.11:g.155026937_155027122del rs2073793798
NC_000023.11:g.48681722_48688043inv
NG_007994.1:g.(11652_15340)_(15455_22627)del
NG_007994.1:g.(11652_15340)_(22757_25326)del
NG_007994.1:g.(25530_35005)_(35121_35788)del
NG_008332.2:g.48605_58661del
NG_011403.1:g.2114_5221del
NG_011403.2:g.(123429_123635)_(125674_126281)del
NG_011403.2:g.(123819_125556)_(127859_131491)del
NG_011403.2:g.(127859_131491)_(131648_164496)del
NG_011403.2:g.(131648_164496)_(167293_189971)del
NG_011403.2:g.(164642_165857)_(167293_189971)del
NG_011403.2:g.(28246_30628)_(30752_34575)del
NG_011403.2:g.(28246_30628)_(80027_96047)del
NG_011403.2:g.(30752_34575)_(167293_189971)del
NG_011403.2:g.(30752_34575)_(66650_70552)del
NG_011403.2:g.(34789_40418)_(43038_58171)del
NG_011403.2:g.(43038_58171)_(61755_66555)del
NG_011403.2:g.(43038_58171)_(99154_121150)del
NG_011403.2:g.(5000_5315)_(40488_42920)del
NG_011403.2:g.(5315_28123)_(30752_30752)del
NG_011403.2:g.(5315_28123)_(34789_40418)del
NG_011403.2:g.(80027_96047)_(127859_131491)del
NG_011403.2:g.(80027_96047)_(131648_164496)del
NG_011403.2:g.(80027_96047)_(99154_121150)del
NG_011403.2:g.(99154_121150)_(123819_125556)del
NG_011403.2:g.2731_26150dup
NG_011403.2:g.97660_97662delinsAluYb8
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) rs1918142335
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) rs1568212112
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000128.4(F11):c.1029-2A>G rs1024865708
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000128.4(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1275_1281dup (p.Thr428fs) rs1580098946
NM_000128.4(F11):c.1289C>T (p.Ala430Val) rs121965068
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.1321del (p.Ile441fs)
NM_000128.4(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.4(F11):c.1760G>C (p.Trp587Ser) rs121965072
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.1822T>C (p.Tyr608His) rs281875255
NM_000128.4(F11):c.214C>T (p.Arg72Ter)
NM_000128.4(F11):c.485+5G>C rs1173748968
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.717dup (p.Thr240fs)
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000129.4(F13A1):c.1201dup (p.Gln401fs) rs1290008988
NM_000129.4(F13A1):c.1243G>T (p.Val415Phe) rs121913070
NM_000129.4(F13A1):c.131_132del rs2113184331
NM_000129.4(F13A1):c.1326C>A (p.Tyr442Ter) rs121913066
NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs) rs1760997136
NM_000129.4(F13A1):c.1817del (p.His606fs) rs1561641262
NM_000129.4(F13A1):c.183C>A (p.Asn61Lys) rs121913067
NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp) rs267606787
NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)
NM_000129.4(F13A1):c.27del (p.Phe9fs) rs763797788
NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs) rs2113123881
NM_000129.4(F13A1):c.514C>T (p.Arg172Ter) rs121913065
NM_000129.4(F13A1):c.523C>T (p.Arg175Ter)
NM_000129.4(F13A1):c.563G>T (p.Trp188Leu) rs1561673120
NM_000129.4(F13A1):c.603_606del (p.Arg202fs) rs1416626948
NM_000129.4(F13A1):c.728T>C (p.Met243Thr) rs267606788
NM_000129.4(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.4(F13A1):c.798+2T>C rs1757581465
NM_000129.4(F13A1):c.851A>G (p.Tyr284Cys) rs121913074
NM_000130.5(F5):c.1042_1049del (p.Lys348fs) rs2101829195
NM_000130.5(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)
NM_000130.5(F5):c.1345G>T (p.Gly449Ter)
NM_000130.5(F5):c.1356_1363del (p.Phe452fs)
NM_000130.5(F5):c.155C>G (p.Ser52Ter)
NM_000130.5(F5):c.1609C>T (p.Gln537Ter)
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.2021del (p.Lys674fs)
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)
NM_000130.5(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
NM_000130.5(F5):c.2521del (p.Gln841fs)
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.2615del (p.Arg872fs) rs2101819850
NM_000130.5(F5):c.2743_2744del (p.Thr915fs)
NM_000130.5(F5):c.2780del (p.Pro927fs)
NM_000130.5(F5):c.286G>C (p.Asp96His)
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
NM_000130.5(F5):c.3012del (p.Arg1005fs)
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
NM_000130.5(F5):c.3322del (p.Thr1108fs)
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)
NM_000130.5(F5):c.357C>G (p.Tyr119Ter)
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)
NM_000130.5(F5):c.3799del (p.Leu1267fs)
NM_000130.5(F5):c.3910_3913del (p.Ser1304fs)
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs) rs2101818393
NM_000130.5(F5):c.4083dup (p.Ser1362fs)
NM_000130.5(F5):c.4096del (p.Leu1366fs) rs1659825695
NM_000130.5(F5):c.4205_4209dup (p.Pro1404fs)
NM_000130.5(F5):c.4317_4318del (p.Pro1440fs)
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.439G>T (p.Glu147Ter) rs118203912
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)
NM_000130.5(F5):c.4705_4706delinsTA (p.Ala1569Ter)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000130.5(F5):c.4876del (p.Ser1626fs)
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)
NM_000130.5(F5):c.5037dup (p.Ser1680fs) rs754982088
NM_000130.5(F5):c.5086G>T (p.Glu1696Ter)
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)
NM_000130.5(F5):c.5261del (p.Gly1754fs)
NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs) rs2101810760
NM_000130.5(F5):c.5403del (p.Lys1801fs)
NM_000130.5(F5):c.5403dup (p.Ser1802fs) rs757917115
NM_000130.5(F5):c.5453del (p.Leu1818fs)
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)
NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)
NM_000130.5(F5):c.597_598del (p.Glu200fs)
NM_000130.5(F5):c.6048G>A (p.Met2016Ile)
NM_000130.5(F5):c.653T>C (p.Phe218Ser)
NM_000130.5(F5):c.6604C>T (p.Arg2202Cys)
NM_000130.5(F5):c.987C>A (p.Cys329Ter)
NM_000131.4(F7):c.-55C>T rs1418012389
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.4(F8):c.1020A>C (p.Glu340Asp) rs1603435286
NM_000132.4(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.4(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.4(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.4(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.4(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.4(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.4(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.4(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.4(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.4(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.4(F8):c.1202G>A (p.Trp401Ter) rs2073424782
NM_000132.4(F8):c.1203G>A (p.Trp401Ter) rs2124106016
NM_000132.4(F8):c.1214T>C (p.Ile405Thr)
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.4(F8):c.1244C>T (p.Ala415Val)
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs) rs2124105898
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1271+1G>A rs1603435260
NM_000132.4(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.4(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.4(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.4(F8):c.1332del (p.Val445fs) rs1375296497
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.4(F8):c.1364T>G (p.Phe455Cys) rs1603435217
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
NM_000132.4(F8):c.1417T>C (p.Tyr473His) rs387906443
NM_000132.4(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.4(F8):c.143+1116_143+1742del rs2073755958
NM_000132.4(F8):c.1443+2T>G rs2073420861
NM_000132.4(F8):c.1467_1472dup (p.Arg490_Pro491dup) rs2073393487
NM_000132.4(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter) rs2124099224
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1506_1516del (p.Arg503fs) rs2124099163
NM_000132.4(F8):c.1538-1G>T rs1414679955
NM_000132.4(F8):c.1596dup (p.Thr533fs) rs387906445
NM_000132.4(F8):c.1621A>T (p.Thr541Ser) rs139526001
NM_000132.4(F8):c.1630G>A (p.Asp544Asn) rs137852415
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.4(F8):c.1658C>G (p.Ser553Cys)
NM_000132.4(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.4(F8):c.1696C>T (p.Leu566Phe) rs2124094420
NM_000132.4(F8):c.1701del (p.Ile567fs)
NM_000132.4(F8):c.170_179dup (p.Thr61fs) rs2124149047
NM_000132.4(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.4(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.4(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.4(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.4(F8):c.1750del (p.Gln584fs) rs2124094327
NM_000132.4(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.4(F8):c.1784T>C (p.Phe595Ser) rs2073351165
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.4(F8):c.1812G>A (p.Trp604Ter) rs137852426
NM_000132.4(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.4(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.4(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.4(F8):c.1899G>T (p.Met633Ile)
NM_000132.4(F8):c.1903+5G>A rs2124090120
NM_000132.4(F8):c.1904-736_2113+2563dup
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.1941_1944del (p.Leu650fs) rs2124082382
NM_000132.4(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.4(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.4(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.4(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.4(F8):c.1991A>C (p.Gln664Pro)
NM_000132.4(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.4(F8):c.2043G>C (p.Met681Ile) rs1603434460
NM_000132.4(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.205_206del (p.Leu69fs) rs1317834655
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) rs2124054281
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.2162T>C (p.Met721Thr) rs1314906579
NM_000132.4(F8):c.2163G>T (p.Met721Ile) rs1218576358
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.2506dup (p.Ser836fs) rs2124053251
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.4(F8):c.2734_2735del (p.Asn912fs) rs1557278778
NM_000132.4(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.4(F8):c.286C>T (p.Gln96Ter) rs2124146053
NM_000132.4(F8):c.2902G>T (p.Glu968Ter) rs782176982
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.2962_2963del (p.Ser988fs) rs387906448
NM_000132.4(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.4(F8):c.296T>C (p.Val99Ala) rs137852382
NM_000132.4(F8):c.302A>G (p.Asp101Gly) rs1312347909
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.4(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter) rs2073189135
NM_000132.4(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.4(F8):c.3300dup (p.Glu1101fs)
NM_000132.4(F8):c.3465dup (p.Ser1156fs)
NM_000132.4(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.4(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.364_365del (p.Val122fs) rs387906435
NM_000132.4(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.4(F8):c.3746del (p.Leu1249fs) rs2124050272
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.4(F8):c.388+1G>A rs1377354928
NM_000132.4(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.4(F8):c.3964del (p.Gln1322fs) rs2073183197
NM_000132.4(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.4(F8):c.4029_4030dup (p.Thr1344fs) rs2124049493
NM_000132.4(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
NM_000132.4(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.412del (p.Ser138fs)
NM_000132.4(F8):c.4242dup (p.Phe1415fs) rs1360639935
NM_000132.4(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.437_438del (p.Lys146fs) rs2124141140
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter) rs2073177296
NM_000132.4(F8):c.4662_4663del (p.Trp1554_Asn1555delinsTer) rs2124048199
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter) rs2124048012
NM_000132.4(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.4(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter) rs1603433733
NM_000132.4(F8):c.4900G>T (p.Glu1634Ter) rs137852438
NM_000132.4(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs) rs2124046974
NM_000132.4(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)
NM_000132.4(F8):c.5219+1G>A rs1280131174
NM_000132.4(F8):c.5220-2A>G rs2073039685
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
NM_000132.4(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.4(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.4(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg) rs1168919288
NM_000132.4(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.4(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.4(F8):c.5374-224_5453delinsT
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs) rs1342455699
NM_000132.4(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter) rs2123997982
NM_000132.4(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.4(F8):c.5483del (p.Pro1828fs) rs2073030045
NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter) rs2123997870
NM_000132.4(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.4(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.4(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)
NM_000132.4(F8):c.5586G>A (p.Leu1862=) rs2123997676
NM_000132.4(F8):c.5587-2A>G rs2073027912
NM_000132.4(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.4(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.4(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.4(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.4(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.4(F8):c.5703C>A (p.Ile1901=) rs782721473
NM_000132.4(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.4(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.4(F8):c.575T>C (p.Ile192Thr) rs1448187077
NM_000132.4(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
NM_000132.4(F8):c.5855T>A (p.Val1952Glu) rs2123996355
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.4(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)
NM_000132.4(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.4(F8):c.5918A>T (p.His1973Leu) rs1273080258
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.4(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.4(F8):c.5961dup (p.Glu1988fs)
NM_000132.4(F8):c.5999-2A>C rs2123994187
NM_000132.4(F8):c.5999G>T (p.Gly2000Val) rs1603432913
NM_000132.4(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.4(F8):c.602-2A>G rs2124134457
NM_000132.4(F8):c.6020del (p.Met2007fs) rs2123994155
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.4(F8):c.6057C>A (p.Cys2019Ter)
NM_000132.4(F8):c.6082G>A (p.Gly2028Arg) rs1603432908
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.4(F8):c.6115+2T>C
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.4(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser) rs1267586059
NM_000132.4(F8):c.6355C>T (p.Gln2119Ter) rs2072977865
NM_000132.4(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.4(F8):c.639_651dup (p.Phe218fs) rs2124134352
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.4(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.4(F8):c.6429+16424_6430-16424inv
NM_000132.4(F8):c.6429+2T>A
NM_000132.4(F8):c.6434T>C (p.Phe2145Ser)
NM_000132.4(F8):c.6434T>G (p.Phe2145Cys) rs1603431562
NM_000132.4(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.4(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.4(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
NM_000132.4(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.4(F8):c.6670_6672del (p.Pro2224del) rs1229477261
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr) rs1342196860
NM_000132.4(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro) rs1603431506
NM_000132.4(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.4(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.4(F8):c.671-1G>A rs1255271151
NM_000132.4(F8):c.671-2A>G rs2124131475
NM_000132.4(F8):c.6713G>A (p.Trp2238Ter) rs1377166595
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
NM_000132.4(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.4(F8):c.6868T>C (p.Trp2290Arg) rs2072681848
NM_000132.4(F8):c.686C>A (p.Ser229Ter)
NM_000132.4(F8):c.6876_6877del (p.Phe2294fs) rs1356674990
NM_000132.4(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.4(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala) rs1603430929
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter) rs2072484506
NM_000132.4(F8):c.755_756del (p.Thr252fs)
NM_000132.4(F8):c.760A>G (p.Asn254Asp) rs2124131338
NM_000132.4(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.4(F8):c.787+3A>G rs2073548872
NM_000132.4(F8):c.788-1G>C rs2073445259
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.4(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.4(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.4(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.4(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.4(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.4(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.4(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.4(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.4(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.4(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4:c.3065_3066insL13054_3065dup
NM_000132.4:c.6430_6723del
NM_000133.3:.c.(391+1_392-1)insN[?]
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.1009G>A (p.Ala337Thr) rs137852253
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.1010C>T (p.Ala337Val)
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.1058T>C (p.Val353Ala) rs137852255
NM_000133.4(F9):c.1062T>A (p.Ser354Arg) rs2148367882
NM_000133.4(F9):c.1064G>T (p.Gly355Val) rs137852256
NM_000133.4(F9):c.1067G>A (p.Trp356Ter)
NM_000133.4(F9):c.1068G>A (p.Trp356Ter)
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.1070G>A (p.Gly357Glu) rs137852275
NM_000133.4(F9):c.1086del (p.Arg364fs)
NM_000133.4(F9):c.1088G>T (p.Gly363Val) rs387906479
NM_000133.4(F9):c.1094C>G (p.Ser365Ter)
NM_000133.4(F9):c.1108C>T (p.Gln370Ter)
NM_000133.4(F9):c.1120G>T (p.Val374Phe) rs137852271
NM_000133.4(F9):c.1135C>T (p.Arg379Ter) rs137852258
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.1138G>A (p.Ala380Thr) rs2148367990
NM_000133.4(F9):c.1144T>C (p.Cys382Arg) rs137852260
NM_000133.4(F9):c.1148T>A (p.Leu383His)
NM_000133.4(F9):c.1151G>C (p.Arg384Pro) rs137852283
NM_000133.4(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.4(F9):c.1161del (p.Lys387fs)
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) rs1603267412
NM_000133.4(F9):c.1180A>G (p.Met394Val) rs137852262
NM_000133.4(F9):c.1182G>A (p.Met394Ile)
NM_000133.4(F9):c.1183T>A (p.Phe395Ile) rs1175050951
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr)
NM_000133.4(F9):c.1187G>C (p.Cys396Ser) rs137852273
NM_000133.4(F9):c.1189G>C (p.Ala397Pro) rs137852281
NM_000133.4(F9):c.1190C>T (p.Ala397Val)
NM_000133.4(F9):c.1217C>G (p.Ser406Ter)
NM_000133.4(F9):c.1217C>T (p.Ser406Leu) rs137852263
NM_000133.4(F9):c.1228G>C (p.Asp410His) rs137852278
NM_000133.4(F9):c.1231A>G (p.Ser411Gly) rs137852277
NM_000133.4(F9):c.1232G>T (p.Ser411Ile) rs137852276
NM_000133.4(F9):c.1235G>A (p.Gly412Glu)
NM_000133.4(F9):c.1240C>A (p.Pro414Thr) rs137852265
NM_000133.4(F9):c.1256T>A (p.Val419Glu) rs137852280
NM_000133.4(F9):c.127C>T (p.Arg43Trp) rs1603264205
NM_000133.4(F9):c.128G>A (p.Arg43Gln) rs1275708479
NM_000133.4(F9):c.1293G>T (p.Trp431Cys)
NM_000133.4(F9):c.1294G>A (p.Gly432Ser)
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr) rs1385141619
NM_000133.4(F9):c.1307C>A (p.Ala436Glu) rs137852266
NM_000133.4(F9):c.1307C>T (p.Ala436Val) rs137852266
NM_000133.4(F9):c.1324G>A (p.Gly442Arg) rs137852267
NM_000133.4(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.4(F9):c.1357T>C (p.Trp453Arg) rs137852269
NM_000133.4(F9):c.1358G>A (p.Trp453Ter) rs2148368332
NM_000133.4(F9):c.1359G>A (p.Trp453Ter)
NM_000133.4(F9):c.1369A>T (p.Lys457Ter) rs137852270
NM_000133.4(F9):c.138G>Y (p.Arg46Ser)
NM_000133.4(F9):c.141_151del (p.Tyr47_Lys51delinsTer)
NM_000133.4(F9):c.142A>G (p.Asn48Asp)
NM_000133.4(F9):c.142A>T (p.Asn48Tyr) rs1927493197
NM_000133.4(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.4(F9):c.160G>A (p.Glu54Lys)
NM_000133.4(F9):c.169C>T (p.Gln57Ter) rs137852223
NM_000133.4(F9):c.191G>A (p.Cys64Tyr) rs1330779541
NM_000133.4(F9):c.214G>T (p.Glu72Ter) rs1927498635
NM_000133.4(F9):c.218A>T (p.Glu73Val) rs137852226
NM_000133.4(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.4(F9):c.237A>C (p.Glu79Asp) rs137852229
NM_000133.4(F9):c.237_247del (p.Thr81fs) rs2148356221
NM_000133.4(F9):c.252+5G>A rs1266788575
NM_000133.4(F9):c.253-1G>C rs1434866164
NM_000133.4(F9):c.268C>T (p.Gln90Ter)
NM_000133.4(F9):c.277+1G>A rs1224128266
NM_000133.4(F9):c.277+2T>C rs587776735
NM_000133.4(F9):c.278-3A>G rs398122990
NM_000133.4(F9):c.278A>G (p.Asp93Gly) rs137852230
NM_000133.4(F9):c.287A>C (p.Gln96Pro) rs137852231
NM_000133.4(F9):c.328G>A (p.Asp110Asn) rs137852274
NM_000133.4(F9):c.329A>G (p.Asp110Gly) rs137852234
NM_000133.4(F9):c.344A>G (p.Tyr115Cys) rs1603264727
NM_000133.4(F9):c.356G>A (p.Cys119Tyr)
NM_000133.4(F9):c.384T>A (p.Cys128Ter) rs780435919
NM_000133.4(F9):c.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT
NM_000133.4(F9):c.392del (p.Asp131fs)
NM_000133.4(F9):c.401G>C (p.Cys134Ser) rs1927764839
NM_000133.4(F9):c.407T>C (p.Ile136Thr) rs1603265481
NM_000133.4(F9):c.412A>C (p.Asn138His)
NM_000133.4(F9):c.416G>A (p.Gly139Asp) rs1216516070
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs)
NM_000133.4(F9):c.478G>A (p.Gly160Arg)
NM_000133.4(F9):c.479G>C (p.Gly160Ala) rs137852235
NM_000133.4(F9):c.484C>A (p.Arg162=)
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.496A>T (p.Asn166Tyr) rs137852236
NM_000133.4(F9):c.499C>T (p.Gln167Ter) rs2148361240
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.521-35_723+84del rs1603265760
NM_000133.4(F9):c.52T>C (p.Cys18Arg) rs387906474
NM_000133.4(F9):c.532T>C (p.Cys178Arg) rs2148362390
NM_000133.4(F9):c.540_541del (p.Arg180fs) rs587776736
NM_000133.4(F9):c.541G>T (p.Val181Phe) rs387906477
NM_000133.4(F9):c.545_546del (p.Ser182fs) rs1433656857
NM_000133.4(F9):c.655C>T (p.Gln219Ter) rs137852239
NM_000133.4(F9):c.659C>A (p.Ser220Ter)
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.677G>A (p.Arg226Gln) rs137852241
NM_000133.4(F9):c.682G>T (p.Val228Phe) rs137852243
NM_000133.4(F9):c.68T>C (p.Leu23Pro)
NM_000133.4(F9):c.697G>A (p.Ala233Thr) rs387906478
NM_000133.4(F9):c.709C>T (p.Gln237Ter) rs137852244
NM_000133.4(F9):c.710A>T (p.Gln237Leu) rs137852245
NM_000133.4(F9):c.719G>A (p.Trp240Ter) rs1603265827
NM_000133.4(F9):c.720G>A (p.Trp240Ter) rs1603265830
NM_000133.4(F9):c.723+1G>T rs1603265832
NM_000133.4(F9):c.723G>A (p.Gln241=)
NM_000133.4(F9):c.735del (p.Asn245fs)
NM_000133.4(F9):c.742del (p.Val248fs)
NM_000133.4(F9):c.755G>A (p.Cys252Tyr)
NM_000133.4(F9):c.755G>C (p.Cys252Ser) rs267606792
NM_000133.4(F9):c.782G>A (p.Trp261Ter) rs2148367245
NM_000133.4(F9):c.79G>A (p.Glu27Lys) rs387906475
NM_000133.4(F9):c.804T>G (p.Cys268Trp) rs137852246
NM_000133.4(F9):c.82T>C (p.Cys28Arg) rs387906481
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.838+1_838+16del rs2148367304
NM_000133.4(F9):c.839-1G>A rs1439169192
NM_000133.4(F9):c.839G>A (p.Gly280Asp) rs1275842849
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
NM_000133.4(F9):c.871G>C (p.Glu291Gln)
NM_000133.4(F9):c.872A>T (p.Glu291Val) rs137852279
NM_000133.4(F9):c.88+2T>C rs2148353009
NM_000133.4(F9):c.88+5_88+8del rs1603263399
NM_000133.4(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.4(F9):c.881G>T (p.Arg294Leu)
NM_000133.4(F9):c.887T>A (p.Val296Glu) rs1371397743
NM_000133.4(F9):c.88G>A (p.Val30Ile) rs1603263395
NM_000133.4(F9):c.88G>C (p.Val30Leu) rs1603263395
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.917A>G (p.Asn306Ser) rs137852251
NM_000133.4(F9):c.944A>G (p.Asp315Gly)
NM_000133.4(F9):c.950C>T (p.Ala317Val) rs2148367725
NM_000133.4(F9):c.952C>T (p.Leu318Phe)
NM_000133.4(F9):c.969_975del (p.Pro324fs)
NM_000133.4(F9):c.990C>A (p.Tyr330Ter) rs1928109999
NM_000133.4(F9):c.998C>T (p.Pro333Leu) rs137852252
NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp) rs2151108403
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) rs121908065
NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu) rs2151107964
NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp) rs121908062
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr) rs765474118
NM_000173.7(GP1BA):c.987G>A (p.Trp329Ter)
NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs) rs587777760
NM_000185.4(SERPIND1):c.321dup (p.Val108fs) rs587777759
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter) rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.4(CFH):c.1574G>A (p.Trp525Ter) rs1328357943
NM_000186.4(CFH):c.1609del (p.His537fs)
NM_000186.4(CFH):c.2397del (p.Glu800fs) rs1131690796
NM_000186.4(CFH):c.245-1G>C
NM_000186.4(CFH):c.2485dup (p.Tyr829fs)
NM_000186.4(CFH):c.2535dup (p.Gln846fs) rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.3134-2A>G rs1300996807
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) rs1652987369
NM_000186.4(CFH):c.3493+1G>A rs1387205085
NM_000186.4(CFH):c.3493+2T>C rs1652989506
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) rs2136156603
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) rs748888649
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1599-16T>G
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) rs747607498
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000204.5(CFI):c.1149-1G>A
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000204.5(CFI):c.79del (p.Asp27fs)
NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) rs2065118104
NM_000212.3(ITGB3):c.1053_1058del (p.Ile351_Gly353delinsMet)
NM_000212.3(ITGB3):c.1129dup (p.Ile377fs) rs2143109012
NM_000212.3(ITGB3):c.1185del (p.Phe396fs)
NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter)
NM_000212.3(ITGB3):c.1192del (p.Ala398fs) rs2143109249
NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr) rs121918449
NM_000212.3(ITGB3):c.121C>T (p.Gln41Ter)
NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) rs2065055824
NM_000212.3(ITGB3):c.1300del (p.Gln434fs) rs2143112489
NM_000212.3(ITGB3):c.1303G>T (p.Glu435Ter)
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) rs754250394
NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter) rs2143112940
NM_000212.3(ITGB3):c.1406dup (p.Pro469_Asn470insTer) rs1567766810
NM_000212.3(ITGB3):c.1409dup (p.Asn470fs) rs1386425657
NM_000212.3(ITGB3):c.1431C>T (p.Gly477=)
NM_000212.3(ITGB3):c.1456del (p.Cys486fs) rs2143113218
NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter)
NM_000212.3(ITGB3):c.1522del (p.Gln508fs) rs1399789771
NM_000212.3(ITGB3):c.1525C>T (p.Gln509Ter)
NM_000212.3(ITGB3):c.1525del (p.Gln509fs) rs2143113595
NM_000212.3(ITGB3):c.153del (p.Trp51fs) rs2143068680
NM_000212.3(ITGB3):c.1550del (p.Gly517fs) rs1393664515
NM_000212.3(ITGB3):c.1616_1617del (p.Phe539fs)
NM_000212.3(ITGB3):c.161_165+1delinsCTGATT
NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) rs185135224
NM_000212.3(ITGB3):c.165+1G>T rs2143068731
NM_000212.3(ITGB3):c.166-2A>G rs75354240
NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp) rs2065157059
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter) rs1057518837
NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg)
NM_000212.3(ITGB3):c.1728del (p.Ser577fs) rs2143129755
NM_000212.3(ITGB3):c.1736G>A (p.Trp579Ter) rs2143129828
NM_000212.3(ITGB3):c.1784_1802delinsGTCACA (p.Ser595fs) rs2143129998
NM_000212.3(ITGB3):c.1801T>A (p.Cys601Ser)
NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg) rs747534508
NM_000212.3(ITGB3):c.1815C>T (p.Gly605=)
NM_000212.3(ITGB3):c.1913+1G>A rs2065158302
NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter) rs121918451
NM_000212.3(ITGB3):c.1980C>A (p.Tyr660Ter) rs777913442
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.1990G>T (p.Glu664Ter)
NM_000212.3(ITGB3):c.2014+1G>A rs2065163860
NM_000212.3(ITGB3):c.2031_2041del (p.Asp677fs) rs2143138089
NM_000212.3(ITGB3):c.2068_2069del (p.Val690fs) rs2143138162
NM_000212.3(ITGB3):c.2080C>T (p.Gln694Ter) rs2143138190
NM_000212.3(ITGB3):c.2113del (p.Leu705fs) rs780384800
NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter)
NM_000212.3(ITGB3):c.224del (p.Cys75fs) rs753932639
NM_000212.3(ITGB3):c.225_226del (p.Ala76fs) rs1438135616
NM_000212.3(ITGB3):c.2301+1G>C
NM_000212.3(ITGB3):c.2332T>C (p.Ser778Pro) rs121918447
NM_000212.3(ITGB3):c.330_336del (p.Ser110fs)
NM_000212.3(ITGB3):c.361+1G>A rs2143090512
NM_000212.3(ITGB3):c.401del (p.Glu134fs)
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr) rs121918445
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter) rs887221055
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) rs767548512
NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) rs1038392991
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.602del (p.Asn201fs)
NM_000212.3(ITGB3):c.613_614+2del rs2143093355
NM_000212.3(ITGB3):c.615-1G>A
NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser) rs2065102210
NM_000212.3(ITGB3):c.674del (p.Gln225fs) rs2143096900
NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) rs746626039
NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln)
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) rs1598690937
NM_000212.3(ITGB3):c.728A>T (p.Asp243Val) rs2143097053
NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp) rs79560904
NM_000212.3(ITGB3):c.756del (p.Met253fs) rs2143097158
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) rs2143097219
NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) rs2065103002
NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter)
NM_000212.3(ITGB3):c.812dup (p.Leu271fs)
NM_000212.3(ITGB3):c.847_848del (p.Ala283fs)
NM_000212.3(ITGB3):c.861del (p.Arg287fs) rs2143098979
NM_000212.3(ITGB3):c.863T>C (p.Leu288Pro)
NM_000212.3(ITGB3):c.892C>T (p.Gln298Ter) rs2065105940
NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter) rs2143099209
NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) rs2143105853
NM_000301.5(PLG):c.1435G>T (p.Glu479Ter) rs121918032
NM_000301.5(PLG):c.1771T>C (p.Ser591Pro) rs121918029
NM_000301.5(PLG):c.1848G>A (p.Trp616Ter) rs121918031
NM_000301.5(PLG):c.2125+1del rs606231210
NM_000301.5(PLG):c.687GAA[2] (p.Lys231del) rs121918034
NM_000301.5(PLG):c.704G>A (p.Arg235His) rs121918030
NM_000301.5(PLG):c.886T>G (p.Cys296Gly) rs1777777927
NM_000312.4(PROC):c.1027G>A (p.Gly343Ser) rs121918147
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter) rs121918141
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000312.4(PROC):c.1212dup (p.Pro405fs) rs1333329860
NM_000312.4(PROC):c.1268del (p.Gly423fs)
NM_000312.4(PROC):c.1332G>C (p.Trp444Cys) rs121918142
NM_000312.4(PROC):c.185A>C (p.Glu62Ala) rs121918148
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000312.4(PROC):c.326_330dup (p.Cys111fs) rs1688218776
NM_000312.4(PROC):c.340G>T (p.Gly114Cys) rs374476971
NM_000312.4(PROC):c.360C>A (p.Cys120Ter)
NM_000312.4(PROC):c.400+1G>A rs1189377845
NM_000312.4(PROC):c.400+2T>A
NM_000312.4(PROC):c.400+2T>C rs2104953327
NM_000312.4(PROC):c.400+5G>A
NM_000312.4(PROC):c.400+5G>T
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) rs758576042
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) rs1434042239
NM_000312.4(PROC):c.552_553insTT (p.Arg185fs) rs1558715857
NM_000312.4(PROC):c.560G>A (p.Trp187Ter)
NM_000312.4(PROC):c.561G>A (p.Trp187Ter) rs1558715877
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) rs199469476
NM_000312.4(PROC):c.658C>T (p.Arg220Trp) rs121918152
NM_000312.4(PROC):c.675G>A (p.Trp225Ter) rs757925208
NM_000312.4(PROC):c.678+9C>T rs1053253907
NM_000312.4(PROC):c.678G>C (p.Gln226His) rs121918155
NM_000312.4(PROC):c.698dup (p.Lys234fs)
NM_000312.4(PROC):c.6G>A (p.Trp2Ter)
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000312.4(PROC):c.866C>T (p.Pro289Leu) rs121918151
NM_000312.4(PROC):c.902C>T (p.Ala301Val) rs121918144
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
NM_000312.4(PROC):c.94C>T (p.Arg32Cys)
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715
NM_000313.4(PROS1):c.-39C>T rs2107279407
NM_000313.4(PROS1):c.1084C>T (p.Gln362Ter) rs1559931820
NM_000313.4(PROS1):c.1142dup (p.Leu382fs)
NM_000313.4(PROS1):c.1149G>A (p.Trp383Ter) rs1708453639
NM_000313.4(PROS1):c.1155+5G>A rs199469494
NM_000313.4(PROS1):c.1179_1180dup (p.Ser394fs)
NM_000313.4(PROS1):c.1185_1188dup (p.Ile397Ter)
NM_000313.4(PROS1):c.1204G>T (p.Glu402Ter) rs1553809314
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.1253dup (p.Asn418fs)
NM_000313.4(PROS1):c.1324-9A>G rs2107137679
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.139G>T (p.Glu47Ter) rs1709034856
NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe)
NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter)
NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter)
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter)
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs) rs2107125195
NM_000313.4(PROS1):c.181G>T (p.Glu61Ter) rs2107202868
NM_000313.4(PROS1):c.1870+1G>C rs780859898
NM_000313.4(PROS1):c.1871-1G>A rs2107120223
NM_000313.4(PROS1):c.1871-2A>G rs2107120227
NM_000313.4(PROS1):c.1908del (p.Phe635_Tyr636insTer) rs1576170618
NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr) rs1576170616
NM_000313.4(PROS1):c.1919T>C (p.Met640Thr) rs1708152510
NM_000313.4(PROS1):c.194AAG[2] (p.Glu67del) rs1709033502
NM_000313.4(PROS1):c.1977del (p.Asn659fs)
NM_000313.4(PROS1):c.1991dup (p.His664fs) rs1553808038
NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter) rs1559926604
NM_000313.4(PROS1):c.1A>C (p.Met1Leu) rs2107279275
NM_000313.4(PROS1):c.1A>G (p.Met1Val)
NM_000313.4(PROS1):c.2031A>T (p.Ter677Tyr) rs267606981
NM_000313.4(PROS1):c.232dup (p.Thr78fs)
NM_000313.4(PROS1):c.252del (p.Lys84fs) rs1241365457
NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)
NM_000313.4(PROS1):c.3G>C (p.Met1Ile) rs1403076049
NM_000313.4(PROS1):c.470-2A>T rs1708668246
NM_000313.4(PROS1):c.557G>A (p.Cys186Tyr) rs779391826
NM_000313.4(PROS1):c.581C>A (p.Ser194Ter) rs1708666412
NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys) rs387906675
NM_000313.4(PROS1):c.708del (p.Lys237fs)
NM_000313.4(PROS1):c.740G>C (p.Cys247Ser) rs2107158284
NM_000313.4(PROS1):c.76+2_76+3del rs2107279030
NM_000313.4(PROS1):c.760C>T (p.Gln254Ter)
NM_000313.4(PROS1):c.77-2A>G
NM_000313.4(PROS1):c.773A>G (p.Asn258Ser) rs121918473
NM_000313.4(PROS1):c.785del (p.Gly262fs) rs1576182838
NM_000313.4(PROS1):c.793dup (p.Cys265fs) rs2107158205
NM_000313.4(PROS1):c.820A>T (p.Lys274Ter) rs1708536031
NM_000313.4(PROS1):c.835C>T (p.Gln279Ter) rs121918475
NM_000313.4(PROS1):c.83C>A (p.Ser28Ter)
NM_000313.4(PROS1):c.864C>A (p.Cys288Ter) rs554787241
NM_000313.4(PROS1):c.865del (p.Leu289fs)
NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs) rs863224838
NM_000361.3(THBD):c.142G>A (p.Ala48Thr) rs2122673257
NM_000361.3(THBD):c.1688dup (p.Gln564fs)
NM_000377.3(WAS):c.-37_132+35del rs1602176146
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) rs1569494025
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) rs2147266379
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
NM_000377.3(WAS):c.1058dup (p.Pro354fs) rs1557007165
NM_000377.3(WAS):c.105_106del (p.Leu35_Phe36insTer)
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
NM_000377.3(WAS):c.1085del (p.Pro362fs) rs2147266474
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1097del (p.Gly366fs) rs587776744
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1203del (p.Pro402fs)
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1221del (p.Asn408fs)
NM_000377.3(WAS):c.1266del (p.Gly424fs)
NM_000377.3(WAS):c.1271_1317del (p.Gly424fs)
NM_000377.3(WAS):c.1271del (p.Gly424fs)
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1289del (p.Gly430fs)
NM_000377.3(WAS):c.1289dup (p.Arg431fs)
NM_000377.3(WAS):c.1315_1453+204del rs1602179794
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
NM_000377.3(WAS):c.1337_1338+9del rs1602179810
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) rs2062432605
NM_000377.3(WAS):c.1405dup (p.Ala469fs) rs2062432653
NM_000377.3(WAS):c.1453+1G>A
NM_000377.3(WAS):c.1453+2T>G rs2147267350
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.172C>A (p.Pro58Thr) rs2062412365
NM_000377.3(WAS):c.176del (p.Pro59fs) rs2147262809
NM_000377.3(WAS):c.177del (p.Gly60fs) rs2147262829
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
NM_000377.3(WAS):c.1A>T (p.Met1Leu) rs587776742
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) rs2062412730
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.257G>T (p.Arg86Leu) rs132630268
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
NM_000377.3(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.3(WAS):c.273+1G>A rs1064794076
NM_000377.3(WAS):c.295del (p.Gln99fs)
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) rs2062416187
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) rs2062416272
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
NM_000377.3(WAS):c.355G>T (p.Gly119Ter) rs1602177243
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.360+1G>C rs1057520700
NM_000377.3(WAS):c.361-1G>C
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.382T>C (p.Phe128Leu) rs2147263906
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3]) rs587776743
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) rs2062417344
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
NM_000377.3(WAS):c.412dup (p.Arg138fs)
NM_000377.3(WAS):c.436del (p.Gln146fs) rs2062417558
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
NM_000377.3(WAS):c.454C>T (p.Gln152Ter)
NM_000377.3(WAS):c.466del (p.Arg156fs)
NM_000377.3(WAS):c.470_471del (p.Arg157fs) rs1602177562
NM_000377.3(WAS):c.539dup (p.His180fs) rs2147264299
NM_000377.3(WAS):c.559+2T>G rs1602177733
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.560-1G>A rs1602178087
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
NM_000377.3(WAS):c.629C>G (p.Ser210Ter)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) rs1602178184
NM_000377.3(WAS):c.687G>T (p.Gly229=)
NM_000377.3(WAS):c.691A>T (p.Lys231Ter)
NM_000377.3(WAS):c.692del (p.Lys231fs) rs2062422078
NM_000377.3(WAS):c.701del (p.Ser234fs)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.724del (p.Ser242fs) rs2147264989
NM_000377.3(WAS):c.734+1G>C
NM_000377.3(WAS):c.734+2T>A rs1569493877
NM_000377.3(WAS):c.735-2A>G rs1602178800
NM_000377.3(WAS):c.735-2A>T
NM_000377.3(WAS):c.73_74del (p.Thr25fs) rs1602176299
NM_000377.3(WAS):c.753dup (p.Trp252fs) rs2147265693
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.778-6G>A rs1557007011
NM_000377.3(WAS):c.802del (p.Arg268fs) rs2147265894
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) rs1602178952
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) rs2147265917
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
NM_000377.3(WAS):c.858del (p.Ser287fs) rs1602179000
NM_000377.3(WAS):c.879_882del (p.Phe293fs)
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.913C>T (p.Gln305Ter)
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.3(WAS):c.931+1G>C
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
NM_000377.3(WAS):c.969del (p.Asn324fs)
NM_000377.3(WAS):c.984del (p.Pro330fs)
NM_000377.3(WAS):c.990del (p.Ile331fs) rs2147266326
NM_000412.5(HRG):c.308G>A (p.Gly103Glu) rs121918122
NM_000419.4(ITGA2B):c.[1787T>C];[439C>G]
NM_000419.5(ITGA2B):c.1028T>C (p.Leu343Pro) rs1476448476
NM_000419.5(ITGA2B):c.1051C>T (p.Arg351Ter) rs1032879686
NM_000419.5(ITGA2B):c.1071dup (p.Arg358fs)
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs) rs2048615633
NM_000419.5(ITGA2B):c.1096C>T (p.Arg366Ter)
NM_000419.5(ITGA2B):c.113del (p.Gln38fs)
NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)
NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)
NM_000419.5(ITGA2B):c.1230del (p.Tyr411fs)
NM_000419.5(ITGA2B):c.1232dup (p.Tyr411Ter) rs2143465421
NM_000419.5(ITGA2B):c.1233C>A (p.Tyr411Ter) rs779910477
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1253del (p.Gly418fs) rs2143465205
NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val) rs2048678209
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) rs780017389
NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)
NM_000419.5(ITGA2B):c.138dup (p.Gly47fs) rs2143506473
NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter) rs78218617
NM_000419.5(ITGA2B):c.1423C>T (p.Gln475Ter)
NM_000419.5(ITGA2B):c.1424_1427dup (p.Ala477fs)
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.1460_1461insAGGT (p.Ser488fs) rs2143461728
NM_000419.5(ITGA2B):c.1524_1533del (p.Gln508fs)
NM_000419.5(ITGA2B):c.1544+1G>A rs879255509
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.1545-1del rs2048583710
NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter)
NM_000419.5(ITGA2B):c.1590del (p.Gln531fs)
NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter)
NM_000419.5(ITGA2B):c.1599_1600del (p.Ser534fs)
NM_000419.5(ITGA2B):c.1600+1G>A
NM_000419.5(ITGA2B):c.1608del (p.Asn536fs) rs2143459811
NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) rs780837520
NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) rs1344768030
NM_000419.5(ITGA2B):c.1618del (p.Gln540fs) rs2048581747
NM_000419.5(ITGA2B):c.1642C>T (p.Gln548Ter)
NM_000419.5(ITGA2B):c.1654del (p.Val552fs)
NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter) rs74602141
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) rs137852906
NM_000419.5(ITGA2B):c.175del (p.Asp59fs)
NM_000419.5(ITGA2B):c.1771dup (p.Asp591fs)
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) rs80277041
NM_000419.5(ITGA2B):c.1879-2A>G rs77229108
NM_000419.5(ITGA2B):c.188+1G>A
NM_000419.5(ITGA2B):c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA
NM_000419.5(ITGA2B):c.188+484_892-70delinsCAATCCCACA
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) rs1236922680
NM_000419.5(ITGA2B):c.189-319_236del
NM_000419.5(ITGA2B):c.1899del (p.Cys633fs)
NM_000419.5(ITGA2B):c.1919_1920del (p.Val640fs) rs2143452404
NM_000419.5(ITGA2B):c.1947-2A>G
NM_000419.5(ITGA2B):c.1993C>T (p.Gln665Ter) rs1472992102
NM_000419.5(ITGA2B):c.1999dup (p.Asp667fs)
NM_000419.5(ITGA2B):c.2015del (p.Gly672fs) rs2143451028
NM_000419.5(ITGA2B):c.2094+2T>C rs1555613692
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) rs1598377980
NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs) rs2048557642
NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer) rs2143447351
NM_000419.5(ITGA2B):c.2174del (p.Lys725fs) rs2143447308
NM_000419.5(ITGA2B):c.21_22del (p.Leu8fs) rs2143507418
NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter) rs2048550784
NM_000419.5(ITGA2B):c.2255T>G (p.Leu752Arg)
NM_000419.5(ITGA2B):c.2267+1G>T rs2048550327
NM_000419.5(ITGA2B):c.2290del (p.Ser764fs)
NM_000419.5(ITGA2B):c.2338del (p.Glu780fs) rs2143440696
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2348+5G>C rs776442328
NM_000419.5(ITGA2B):c.2374del (p.Val792fs)
NM_000419.5(ITGA2B):c.2390del (p.Gly797fs)
NM_000419.5(ITGA2B):c.240_241del (p.Glu80fs) rs2048646560
NM_000419.5(ITGA2B):c.2415_2416del (p.Asp805fs)
NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter) rs2143439415
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) rs2048541187
NM_000419.5(ITGA2B):c.2444_2445del (p.Thr814_Tyr815insTer) rs2143439241
NM_000419.5(ITGA2B):c.2449-1G>C
NM_000419.5(ITGA2B):c.2459del (p.Asn820fs) rs2143438540
NM_000419.5(ITGA2B):c.245dup (p.Gly83fs) rs2143491610
NM_000419.5(ITGA2B):c.2473_2478delinsTCACCAGGGCCTTCACCTCAGCATCCACCAG (p.Val825fs)
NM_000419.5(ITGA2B):c.2473_2481delinsTCACCTGGTC (p.Val825fs) rs2048539289
NM_000419.5(ITGA2B):c.2555del (p.Gln852fs)
NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter) rs2143437407
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) rs1052533574
NM_000419.5(ITGA2B):c.2613del (p.Leu872fs) rs2048535976
NM_000419.5(ITGA2B):c.2637del (p.Ile880fs) rs2048535487
NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter) rs2048646082
NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) rs200846140
NM_000419.5(ITGA2B):c.2673_2674dup (p.Ile892fs) rs2143435739
NM_000419.5(ITGA2B):c.2674del (p.Ile892fs)
NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter)
NM_000419.5(ITGA2B):c.2748_2757del (p.Thr917fs) rs76572092
NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter) rs2143432066
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) rs1598375779
NM_000419.5(ITGA2B):c.2902del (p.Tyr968fs) rs2143429292
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs) rs781644489
NM_000419.5(ITGA2B):c.291del (p.Ser98fs) rs2048645725
NM_000419.5(ITGA2B):c.2930del (p.Arg977fs) rs2048523431
NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter)
NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter) rs2143427792
NM_000419.5(ITGA2B):c.2965del (p.Ala989fs) rs2048521625
NM_000419.5(ITGA2B):c.2975_2979del (p.Glu992fs) rs2048521407
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter)
NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=) rs757268030
NM_000419.5(ITGA2B):c.3061-1G>A
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) rs2048504826
NM_000419.5(ITGA2B):c.310+1G>A
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu)
NM_000419.5(ITGA2B):c.409-2_419del rs879255508
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) rs2048642260
NM_000419.5(ITGA2B):c.432G>A (p.Trp144Ter) rs2143489377
NM_000419.5(ITGA2B):c.470C>A (p.Pro157His)
NM_000419.5(ITGA2B):c.480del (p.Cys161fs)
NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)
NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter) rs79713558
NM_000419.5(ITGA2B):c.539del (p.Asn180fs)
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) rs1416238665
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000419.5(ITGA2B):c.575-1_575insGGACAA (p.Phe191_Ser192insArgThr)
NM_000419.5(ITGA2B):c.575-2A>T
NM_000419.5(ITGA2B):c.605T>G (p.Phe202Cys)
NM_000419.5(ITGA2B):c.624+2C>A rs2048635467
NM_000419.5(ITGA2B):c.625-1G>A rs2143485431
NM_000419.5(ITGA2B):c.670G>A (p.Gly224Ser)
NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) rs2048632227
NM_000419.5(ITGA2B):c.693dup (p.Ala232fs) rs2048632055
NM_000419.5(ITGA2B):c.727del (p.Leu243fs) rs2143484108
NM_000419.5(ITGA2B):c.799+2T>C rs1194700242
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) rs137852907
NM_000419.5(ITGA2B):c.832del (p.Asp278fs)
NM_000419.5(ITGA2B):c.855dup (p.Val286fs)
NM_000419.5(ITGA2B):c.91del (p.Ala31fs) rs2048678902
NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter) rs2143478260
NM_000419.5(ITGA2B):c.97A>G (p.Asn33Asp)
NM_000419.5(ITGA2B):c.998+1G>C rs1598381778
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter) rs483352856
NM_000488.4(SERPINC1):c.1021_1024del (p.Asp341fs) rs121909561
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs) rs863224495
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1154-324_1218+475dup rs2102778169
NM_000488.4(SERPINC1):c.1154-40_1218+127dup rs2102778641
NM_000488.4(SERPINC1):c.1154-898_1218+410del
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn) rs121909558
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) rs2102778910
NM_000488.4(SERPINC1):c.1205del (p.Lys402fs) rs2102778876
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)
NM_000488.4(SERPINC1):c.1219-2A>G rs2102773374
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr) rs121909557
NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro) rs121909548
NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp) rs121909566
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys) rs121909554
NM_000488.4(SERPINC1):c.1273_1275del (p.Arg425del) rs2102773181
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His) rs121909549
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro) rs121909549
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys)
NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala) rs1487411568
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu) rs121909555
NM_000488.4(SERPINC1):c.1322T>C (p.Leu441Pro)
NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
NM_000488.4(SERPINC1):c.1373_1381del (p.Val458_Pro461delinsAla) rs2102772927
NM_000488.4(SERPINC1):c.1382C>T (p.Pro461Leu) rs121909564
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser) rs121909547
NM_000488.4(SERPINC1):c.237dup (p.Val80fs) rs2102789885
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)
NM_000488.4(SERPINC1):c.266_318del (p.Arg89fs)
NM_000488.4(SERPINC1):c.280_283del (p.Phe94fs)
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn) rs1657909645
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)
NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg) rs121909573
NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter) rs2102789590
NM_000488.4(SERPINC1):c.408+948_763-386del
NM_000488.4(SERPINC1):c.409-1G>C
NM_000488.4(SERPINC1):c.409-1G>T
NM_000488.4(SERPINC1):c.41+297_55del
NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del) rs1572090368
NM_000488.4(SERPINC1):c.42-486_1154-846del
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.448dup (p.Gln150fs) rs1572090305
NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del) rs786204063
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter) rs121909562
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr) rs121909570
NM_000488.4(SERPINC1):c.562G>T (p.Glu188Ter)
NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter) rs2102785788
NM_000488.4(SERPINC1):c.624+1G>A rs1572090079
NM_000488.4(SERPINC1):c.667T>C (p.Ser223Pro) rs121909572
NM_000488.4(SERPINC1):c.68T>C (p.Leu23Pro) rs387906575
NM_000488.4(SERPINC1):c.719dup (p.Asn240fs) rs2102784614
NM_000488.4(SERPINC1):c.763-1G>C
NM_000488.4(SERPINC1):c.763-379_1084del rs2102782435
NM_000488.4(SERPINC1):c.766del (p.Leu256fs) rs1572088865
NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)
NM_000488.4(SERPINC1):c.779dup (p.Phe261fs) rs1572088837
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs) rs1657694750
NM_000488.4(SERPINC1):c.830del (p.Glu277fs) rs1572088775
NM_000488.4(SERPINC1):c.84_409-536del
NM_000488.4(SERPINC1):c.857A>C (p.Gln286Pro)
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494
NM_000488.4(SERPINC1):c.967_968del (p.Ser323fs) rs121909560
NM_000488.4(SERPINC1):c.98dup (p.His33fs)
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) rs104894392
NM_000504.4(F10):c.1120T>C (p.Ser374Pro) rs121964941
NM_000504.4(F10):c.1216G>A (p.Gly406Ser) rs376163818
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000504.4(F10):c.162_163del (p.Glu56fs) rs749213415
NM_000504.4(F10):c.214G>C (p.Glu72Gln) rs121964945
NM_000504.4(F10):c.307G>C (p.Asp103His)
NM_000504.4(F10):c.513del (p.Cys172fs) rs2138548669
NM_000504.4(F10):c.61G>A (p.Gly21Arg) rs753790195
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) rs387906506
NM_000504.4(F10):c.837C>A (p.Tyr279Ter) rs1250509122
NM_000504.4(F10):c.859A>T (p.Arg287Trp) rs121964948
NM_000504.4(F10):c.964G>A (p.Asp322Asn) rs121964942
NM_000505.4(F12):c.1570del (p.Val524fs)
NM_000505.4(F12):c.303_304del (p.His101fs)
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000505.4(F12):c.983C>G (p.Thr328Arg) rs118204456
NM_000506.3(F2):c.1027G>A (p.Glu343Lys) rs121918483
NM_000506.3(F2):c.1139T>C (p.Met380Thr) rs121918481
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000506.3(F2):c.1785C>G (p.Asp595Glu) rs121918486
NM_000506.3(F2):c.1802G>T (p.Gly601Val) rs121918480
NM_000506.3(F2):c.940C>T (p.Arg314Cys) rs121918477
NM_000506.5(F2):c.1015C>T (p.Arg339Ter)
NM_000506.5(F2):c.1088G>A (p.Arg363His)
NM_000506.5(F2):c.1159C>T (p.Gln387Ter) rs2064886777
NM_000506.5(F2):c.1274G>A (p.Arg425His) rs121918485
NM_000506.5(F2):c.13C>T (p.Arg5Ter)
NM_000506.5(F2):c.1499G>A (p.Arg500Gln) rs202003146
NM_000506.5(F2):c.1678C>T (p.Arg560Ter)
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
NM_000506.5(F2):c.1787G>A (p.Arg596Gln) rs387907201
NM_000506.5(F2):c.1787G>T (p.Arg596Leu) rs387907201
NM_000506.5(F2):c.349C>T (p.Arg117Ter)
NM_000506.5(F2):c.392dup (p.Trp132fs)
NM_000506.5(F2):c.462_463insT (p.Asn155Ter) rs387906522
NM_000506.5(F2):c.923_926del (p.Asp308fs)
NM_000506.5(F2):c.954dup (p.Glu319Ter)
NM_000508.5(FGA):c.2155del (p.Gln719fs) rs2110806028
NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.5(VWF):c.1092_1093del (p.Asp366fs) rs2136470486
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter) rs61754003
NM_000552.5(VWF):c.1110-1G>T rs61754005
NM_000552.5(VWF):c.1116C>A (p.Cys372Ter) rs1250492485
NM_000552.5(VWF):c.1117C>T (p.Arg373Ter) rs62643625
NM_000552.5(VWF):c.1130G>A (p.Trp377Ter) rs1321160729
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro) rs61754006
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del) rs267607305
NM_000552.5(VWF):c.1318del (p.Cys440fs) rs2136462110
NM_000552.5(VWF):c.1320C>A (p.Cys440Ter) rs1381910966
NM_000552.5(VWF):c.1534-13_1551delinsCA rs2136456013
NM_000552.5(VWF):c.1543_1544insGGACAGCT (p.Val515fs) rs2136456030
NM_000552.5(VWF):c.1581del (p.Asn526_Tyr527insTer) rs2136455960
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.5(VWF):c.1659G>A (p.Trp553Ter) rs2136455808
NM_000552.5(VWF):c.1693C>T (p.Gln565Ter) rs750364485
NM_000552.5(VWF):c.1730-1G>T rs1591889534
NM_000552.5(VWF):c.1843dup (p.Cys615fs) rs2136454246
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter) rs61748460
NM_000552.5(VWF):c.1992del (p.Cys665fs) rs1944531613
NM_000552.5(VWF):c.2018_2019del (p.Ser673fs) rs61748462
NM_000552.5(VWF):c.2071_2072delinsG (p.Pro691fs) rs2136449605
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.2116C>T (p.Gln706Ter) rs61748463
NM_000552.5(VWF):c.2124_2125del (p.Cys709fs) rs61748464
NM_000552.5(VWF):c.221-10_532+52del rs1591924188
NM_000552.5(VWF):c.221-2A>C rs1195620730
NM_000552.5(VWF):c.221-977_532+7059del
NM_000552.5(VWF):c.229C>T (p.Gln77Ter) rs2136522827
NM_000552.5(VWF):c.2310del (p.Met771fs) rs776747320
NM_000552.5(VWF):c.2310dup (p.Met771fs) rs776747320
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter) rs2136440316
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.5(VWF):c.2393_2396dup (p.Cys799Ter) rs2136440291
NM_000552.5(VWF):c.2397_2400dup (p.Ser801fs) rs2136440279
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.2430C>A (p.Cys810Ter) rs746648486
NM_000552.5(VWF):c.2430_2431delinsA (p.Cys810_Pro811delinsTer) rs2136440246
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2438dup (p.Met814fs)
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2547-13T>A rs2136430770
NM_000552.5(VWF):c.2684A>G (p.Gln895Arg) rs2136430552
NM_000552.5(VWF):c.2753C>G (p.Ser918Ter) rs2136426808
NM_000552.5(VWF):c.276del (p.Phe92fs) rs61753988
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.2902A>T (p.Lys968Ter) rs1944232310
NM_000552.5(VWF):c.2921G>A (p.Trp974Ter) rs1591870340
NM_000552.5(VWF):c.2965dup (p.Gln989fs) rs2136424529
NM_000552.5(VWF):c.2968-14A>G rs1201852829
NM_000552.5(VWF):c.3108+2T>G rs2136420816
NM_000552.5(VWF):c.310C>T (p.Gln104Ter) rs2136522699
NM_000552.5(VWF):c.3157dup (p.Gln1053fs) rs2136420496
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr) rs267607314
NM_000552.5(VWF):c.322A>T (p.Arg108Ter) rs2136522667
NM_000552.5(VWF):c.323+1G>T rs2136522662
NM_000552.5(VWF):c.3285_3307delinsTCC (p.Asp1096fs) rs2136418437
NM_000552.5(VWF):c.3360G>A (p.Trp1120Ter) rs2136418333
NM_000552.5(VWF):c.3380-2A>G rs2136417619
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg) rs267607332
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3738_3760del (p.Pro1247fs)
NM_000552.5(VWF):c.3762del (p.Thr1255fs) rs2136413887
NM_000552.5(VWF):c.3771_3772del (p.Tyr1258fs) rs2136413869
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.3839_3849del (p.Phe1280fs) rs2136413727
NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro) rs61749379
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu) rs267607335
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu) rs61749385
NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro) rs61749386
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
NM_000552.5(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe) rs61749393
NM_000552.5(VWF):c.3940del (p.Val1314fs) rs2136413513
NM_000552.5(VWF):c.3941T>A (p.Val1314Asp) rs61749394
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu) rs61749396
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3971G>C (p.Gly1324Ala) rs61749399
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4036C>T (p.Gln1346Ter) rs61749405
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.414_426del (p.Arg139fs) rs1312486904
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4309del (p.Ala1437fs) rs2136412749
NM_000552.5(VWF):c.4413del (p.Asp1472fs) rs1565831817
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu) rs1555194979
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.5(VWF):c.4570del (p.Glu1523_Val1524insTer) rs61750103
NM_000552.5(VWF):c.4586_4591del (p.Asp1529_Val1530del)
NM_000552.5(VWF):c.4606_4611del (p.His1536_Val1537del) rs2136412203
NM_000552.5(VWF):c.4626C>G (p.Tyr1542Ter) rs267607343
NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe) rs267607344
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4710C>A (p.Tyr1570Ter) rs2136412017
NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn) rs2136411988
NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter) rs1475440343
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4792G>T (p.Glu1598Ter) rs753701755
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg) rs61750580
NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.5(VWF):c.4883T>A (p.Ile1628Asn) rs61750584
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.4957del (p.Asp1653fs) rs2136411547
NM_000552.5(VWF):c.4978G>T (p.Glu1660Ter) rs2136411489
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.5207del (p.Gly1736fs)
NM_000552.5(VWF):c.5235G>A (p.Trp1745Ter) rs267607352
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys) rs267607352
NM_000552.5(VWF):c.5314delG
NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu) rs267607355
NM_000552.5(VWF):c.5458del (p.Arg1819_Val1820insTer) rs2136405765
NM_000552.5(VWF):c.5621-47_5842+51del rs1591857613
NM_000552.5(VWF):c.5621-50_5842+50del rs2136403361
NM_000552.5(VWF):c.5793G>C (p.Gln1931His) rs574811308
NM_000552.5(VWF):c.5981_5982insT (p.Gly1996fs) rs2136387598
NM_000552.5(VWF):c.6182del (p.Phe2061fs) rs61750614
NM_000552.5(VWF):c.6188del (p.Pro2063fs) rs774210583
NM_000552.5(VWF):c.6211C>T (p.Gln2071Ter)
NM_000552.5(VWF):c.6236C>G (p.Ser2079Ter) rs2136385927
NM_000552.5(VWF):c.646G>T (p.Glu216Ter) rs767837153
NM_000552.5(VWF):c.652C>T (p.Gln218Ter) rs62643623
NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro) rs2136385329
NM_000552.5(VWF):c.6539dup (p.Tyr2180Ter)
NM_000552.5(VWF):c.6599-5_6610del
NM_000552.5(VWF):c.6634dup (p.Cys2212fs) rs1268159078
NM_000552.5(VWF):c.666G>A (p.Trp222Ter) rs62643624
NM_000552.5(VWF):c.6697G>T (p.Glu2233Ter)
NM_000552.5(VWF):c.6743G>A (p.Cys2248Tyr) rs2136382972
NM_000552.5(VWF):c.6798+2T>A
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588
NM_000552.5(VWF):c.6963del (p.Glu2322fs) rs2136375523
NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter) rs111597150
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.5(VWF):c.7130dup (p.His2378fs) rs267607359
NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs) rs1591841452
NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs) rs1591838814
NM_000552.5(VWF):c.7360_7376dup (p.Val2460fs) rs1591838814
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7514C>A (p.Ser2505Ter) rs2136358550
NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)
NM_000552.5(VWF):c.7618del (p.Val2540fs) rs2136356178
NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter) rs61751297
NM_000552.5(VWF):c.763_766del (p.Cys255fs) rs2136474390
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7674dup (p.Ser2559fs) rs267607365
NM_000552.5(VWF):c.7729+7C>T rs61751301
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.7880del (p.Cys2627fs)
NM_000552.5(VWF):c.7886del (p.Leu2629fs)
NM_000552.5(VWF):c.8116-2del rs2136338765
NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser) rs61751311
NM_000602.5(SERPINE1):c.699_700del (p.Tyr233_Thr234insTer)
NM_000821.7(GGCX):c.1454G>C (p.Arg485Pro) rs121909676
NM_000821.7(GGCX):c.1502G>C (p.Trp501Ser) rs28928872
NM_000821.7(GGCX):c.215-1G>T rs786205096
NM_000892.5(KLKB1):c.1196G>A (p.Trp399Ter) rs1303557405
NM_000892.5(KLKB1):c.1204_1205del (p.Trp402fs) rs768319200
NM_000892.5(KLKB1):c.1205G>A (p.Trp402Ter) rs121964950
NM_000892.5(KLKB1):c.143_221+128del
NM_000892.5(KLKB1):c.367G>A (p.Gly123Arg) rs121964952
NM_000892.5(KLKB1):c.451dup (p.Ser151fs) rs560588447
NM_000934.4(SERPINF2):c.1231G>A (p.Val411Met) rs121965062
NM_000934.4(SERPINF2):c.1437dup (p.Met480fs)
NM_000934.4(SERPINF2):c.525AGA[1] (p.Glu176del) rs121965061
NM_001001547.2(CD36):c.120+399TG[12]
NM_001001547.2:c.(?_-183)_(120_?)del
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001001548.3(CD36):c.1237A>C (p.Ile413Leu) rs121918035
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.638_639del (p.Lys213fs) rs780525946
NM_001001548.3(CD36):c.667_671dup (p.Ala225fs) rs748431584
NM_001001548.3(CD36):c.729C>A (p.Cys243Ter) rs149985988
NM_001001548.3(CD36):c.760T>C (p.Phe254Leu) rs142186404
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)
NM_001011551.3(C1GALT1C1):c.59C>A (p.Ala20Asp)
NM_001025356.3(ANO6):c.1219dup (p.Trp407fs)
NM_001025356.3(ANO6):c.1255C>T (p.Arg419Ter)
NM_001025356.3(ANO6):c.1308+2T>C rs2137575812
NM_001025356.3(ANO6):c.747+1G>A
NM_001025356.3(ANO6):c.826C>T (p.Arg276Ter)
NM_001098671.2(RASGRP2):c.1142C>T (p.Ser381Phe) rs767965347
NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs) rs774996406
NM_001098671.2(RASGRP2):c.337C>T (p.Arg113Ter) rs1592384832
NM_001098671.2(RASGRP2):c.706C>T (p.Gln236Ter) rs2135780423
NM_001098671.2(RASGRP2):c.742G>T (p.Gly248Trp) rs587777529
NM_001102416.3(KNG1):c.1038+1G>A rs377594184
NM_001102416.3(KNG1):c.1165C>T (p.Arg389Ter) rs752411996
NM_001102416.3(KNG1):c.306+2T>A
NM_001102416.3(KNG1):c.718C>T (p.Arg240Ter) rs761496908
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) rs121912713
NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs) rs879255646
NM_001312675.2(F10):c.*138C>T rs121964940
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter) rs1574785867
NM_001375834.1(WIPF1):c.284del (p.Gly95fs)
NM_001375834.1(WIPF1):c.373C>T (p.Arg125Ter)
NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)
NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter) rs1684878263
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.5(RUNX1):c.1088_1100del (p.Gly363fs)
NM_001754.5(RUNX1):c.1110del (p.Met371fs)
NM_001754.5(RUNX1):c.1117_1132del (p.Ser373fs)
NM_001754.5(RUNX1):c.1184_1233del (p.Pro395fs)
NM_001754.5(RUNX1):c.1203del (p.Ser402fs)
NM_001754.5(RUNX1):c.1221C>A (p.Tyr407Ter)
NM_001754.5(RUNX1):c.132dup (p.Thr45fs)
NM_001754.5(RUNX1):c.140_150del (p.Leu47fs) rs2146413726
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_001754.5(RUNX1):c.146del (p.Pro49fs)
NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs) rs2146413580
NM_001754.5(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.5(RUNX1):c.165dup (p.Leu56fs) rs2058004321
NM_001754.5(RUNX1):c.166_193dup (p.Ala65fs) rs1569084530
NM_001754.5(RUNX1):c.166_196del (p.Leu56fs) rs2058002908
NM_001754.5(RUNX1):c.171_223del (p.Leu58fs) rs1569084451
NM_001754.5(RUNX1):c.184_187dup (p.Ala63fs)
NM_001754.5(RUNX1):c.191_192insA (p.Ala65fs)
NM_001754.5(RUNX1):c.215_216dup (p.Ser73fs) rs1555899813
NM_001754.5(RUNX1):c.228dup (p.Ser77fs)
NM_001754.5(RUNX1):c.240_241del (p.Glu80fs) rs1569084388
NM_001754.5(RUNX1):c.247dup (p.Ala83fs) rs2146410761
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs) rs2146410489
NM_001754.5(RUNX1):c.259_260dup (p.Glu88fs) rs2146410280
NM_001754.5(RUNX1):c.268del (p.Val90fs) rs2146409966
NM_001754.5(RUNX1):c.270dup (p.Arg91fs) rs2057999400
NM_001754.5(RUNX1):c.277dup (p.Asp93fs)
NM_001754.5(RUNX1):c.285del (p.Asn96fs)
NM_001754.5(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs) rs1601528701
NM_001754.5(RUNX1):c.292_334dup (p.Leu112fs)
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.311del (p.Thr104fs)
NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter) rs2057998110
NM_001754.5(RUNX1):c.318G>A (p.Trp106Ter)
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.334del (p.Leu112fs) rs2057997486
NM_001754.5(RUNX1):c.349A>T (p.Lys117Ter)
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.351+1G>C rs1060502579
NM_001754.5(RUNX1):c.351+1G>T rs1060502579
NM_001754.5(RUNX1):c.351+2T>A rs2057997150
NM_001754.5(RUNX1):c.351+2T>C
NM_001754.5(RUNX1):c.356dup (p.Ala120fs)
NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_001754.5(RUNX1):c.391_392insATCG (p.Thr131fs)
NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro) rs74315451
NM_001754.5(RUNX1):c.400_404del (p.Ala134fs)
NM_001754.5(RUNX1):c.411dup (p.Glu138Ter)
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.422_423insAACC (p.Ala142fs)
NM_001754.5(RUNX1):c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142fs)
NM_001754.5(RUNX1):c.423_424insAACC (p.Ala142fs)
NM_001754.5(RUNX1):c.423_427del (p.Leu144fs)
NM_001754.5(RUNX1):c.424del (p.Ala142fs)
NM_001754.5(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.5(RUNX1):c.442_449del (p.Thr148fs) rs587776811
NM_001754.5(RUNX1):c.458del (p.Asn153fs)
NM_001754.5(RUNX1):c.467C>A (p.Ala156Glu) rs267607026
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.489dup (p.Val164fs)
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.501del (p.Ser167fs) rs1569078799
NM_001754.5(RUNX1):c.503del (p.Gly168fs) rs2146360319
NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.5(RUNX1):c.505dup (p.Arg169fs)
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.508+3del rs587776810
NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs) rs2146236515
NM_001754.5(RUNX1):c.528del (p.Ile177fs)
NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)
NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs) rs2146235138
NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter) rs1569061831
NM_001754.5(RUNX1):c.585del (p.Thr196fs) rs2146235121
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala) rs2057541324
NM_001754.5(RUNX1):c.588_594del (p.Val197fs)
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
NM_001754.5(RUNX1):c.590_597del (p.Val197fs)
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.601dup (p.Arg201fs) rs2146234527
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.5(RUNX1):c.637_638del (p.Gln213fs)
NM_001754.5(RUNX1):c.637del (p.Gln213fs) rs2146076947
NM_001754.5(RUNX1):c.656_674del (p.Leu219fs)
NM_001754.5(RUNX1):c.664dup (p.Ser222fs) rs2146076572
NM_001754.5(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984
NM_001754.5(RUNX1):c.695_696del (p.Arg232fs)
NM_001754.5(RUNX1):c.696del (p.Arg233fs)
NM_001754.5(RUNX1):c.696dup (p.Arg233fs)
NM_001754.5(RUNX1):c.697del (p.Arg233fs)
NM_001754.5(RUNX1):c.698del (p.Arg233fs)
NM_001754.5(RUNX1):c.713_726del (p.Val238fs) rs2146075609
NM_001754.5(RUNX1):c.719del (p.Pro240fs) rs1569037127
NM_001754.5(RUNX1):c.723_729dup (p.Ala244fs)
NM_001754.5(RUNX1):c.735del (p.Thr246fs) rs2146075448
NM_001754.5(RUNX1):c.764_765del (p.His255fs)
NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)
NM_001754.5(RUNX1):c.777dup (p.Asn260Ter) rs2146074811
NM_001754.5(RUNX1):c.782dup (p.Gln262fs)
NM_001754.5(RUNX1):c.784C>T (p.Gln262Ter) rs1601415426
NM_001754.5(RUNX1):c.796C>T (p.Gln266Ter)
NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)
NM_001754.5(RUNX1):c.802C>T (p.Gln268Ter) rs2146074437
NM_001754.5(RUNX1):c.806-1G>A
NM_001754.5(RUNX1):c.813del (p.Arg271fs) rs2145910106
NM_001754.5(RUNX1):c.814C>T (p.Gln272Ter)
NM_001754.5(RUNX1):c.820C>T (p.Gln274Ter)
NM_001754.5(RUNX1):c.830del (p.Pro277fs) rs2145909826
NM_001754.5(RUNX1):c.844_856del (p.Asp282fs) rs2056577059
NM_001754.5(RUNX1):c.847C>T (p.Gln283Ter) rs374341207
NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.891_904del (p.Pro298fs)
NM_001754.5(RUNX1):c.911dup (p.Gly305fs)
NM_001754.5(RUNX1):c.952dup (p.Ser318fs)
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974
NM_001754.5(RUNX1):c.967+2_967+5del rs2056574456
NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)
NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys) rs724159945
NM_001987.5(ETV6):c.1252A>G (p.Arg418Gly) rs786205226
NM_001987.5(ETV6):c.1254G>T (p.Arg418Ser)
NM_001987.5(ETV6):c.614del (p.Leu205fs) rs1555144911
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001994.3(F13B):c.1349G>T (p.Cys450Phe) rs121913075
NM_001994.3(F13B):c.1498del (p.Glu500fs) rs797044453
NM_001994.3(F13B):c.1731_1735del (p.Leu577fs)
NM_001994.3(F13B):c.565G>T (p.Gly189Ter) rs2125071982
NM_001994.3(F13B):c.65-2del rs748297201
NM_003647.3(DGKE):c.301A>T (p.Lys101Ter) rs777787526
NM_003647.3(DGKE):c.447del (p.Lys150fs) rs1906529223
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.888+40A>G rs1555599211
NM_003664.4(AP3B1):c.1839_1842delTAGA
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs) rs1744118616
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
NM_003664.5(AP3B1):c.1363+1G>A
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
NM_003664.5(AP3B1):c.1473+6T>C rs1000881595
NM_003664.5(AP3B1):c.1474-7072_1650+921del
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.5(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.5(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
NM_003664.5(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs) rs2112518616
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs) rs2112100310
NM_003664.5(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
NM_003664.5(AP3B1):c.2738del (p.Lys913fs) rs2112100217
NM_003664.5(AP3B1):c.2757del (p.Ile919fs) rs2112100189
NM_003664.5(AP3B1):c.2801del (p.Asn934fs) rs2112100020
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.624dup (p.Met209fs)
NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter) rs1745947620
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_005141.5(FGB):c.1148T>G (p.Leu383Arg) rs121909621
NM_005141.5(FGB):c.1244+1G>T rs606231224
NM_005141.5(FGB):c.1289G>A (p.Gly430Asp) rs121909622
NM_005141.5(FGB):c.605T>A (p.Leu202Gln) rs121909624
NM_005141.5(FGB):c.679T>C (p.Cys227Arg) rs1578783532
NM_005141.5(FGB):c.958+13C>T rs606231223
NM_005141.5(FGB):c.974G>C (p.Gly325Ala) rs1578785111
NM_005570.4(LMAN1):c.1149+2T>C rs869312031
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer) rs869312033
NM_005570.4(LMAN1):c.1366C>T (p.Arg456Ter)
NM_005570.4(LMAN1):c.2T>C (p.Met1Thr) rs121909253
NM_005570.4(LMAN1):c.349C>T (p.Arg117Ter)
NM_005570.4(LMAN1):c.796del (p.Gln266fs) rs869312032
NM_005570.4(LMAN1):c.89dup (p.Asp31fs) rs869312030
NM_006580.4(CLDN16):c.152T>G (p.Val51Gly)
NM_012388.4(BLOC1S6):c.148G>T (p.Glu50Ter)
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)
NM_012388.4(BLOC1S6):c.285_286dup (p.His96fs)
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
NM_012388.4(BLOC1S6):c.351dup (p.Ile118fs)
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)
NM_019616.4(F7):c.1008G>A (p.Met336Ile)
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1157A>G (p.His386Arg)
NM_019616.4(F7):c.1174G>T (p.Gly392Cys)
NM_019616.4(F7):c.1190C>T (p.Thr397Met)
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) rs1293477494
NM_019616.4(F7):c.1272G>A (p.Trp424Ter) rs2142234775
NM_019616.4(F7):c.1318C>T (p.Arg440Ter)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.178T>C (p.Cys60Arg)
NM_019616.4(F7):c.187G>A (p.Glu63Lys)
NM_019616.4(F7):c.225+1G>C rs1566906827
NM_019616.4(F7):c.283A>G (p.Asn95Asp) rs121964932
NM_019616.4(F7):c.297C>A (p.Cys99Ter)
NM_019616.4(F7):c.364+1G>C rs1056071555
NM_019616.4(F7):c.38T>C (p.Leu13Pro) rs387906507
NM_019616.4(F7):c.394G>T (p.Glu132Ter) rs146795869
NM_019616.4(F7):c.562C>T (p.Gln188Ter) rs267606790
NM_019616.4(F7):c.647G>A (p.Cys216Tyr) rs121964928
NM_019616.4(F7):c.686C>T (p.Ala229Val)
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.917T>C (p.Phe306Ser) rs387906508
NM_021870.2(FGG):c.1007T>C (p.Met336Thr) rs121913091
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter) rs1553965519
NM_021870.3(FGG):c.1210T>C (p.Ser404Pro) rs587777720
NM_021870.3(FGG):c.124-2A>G
NM_021870.3(FGG):c.207_208dup (p.Glu70fs) rs2110850824
NM_021870.3(FGG):c.307+5G>A rs587776838
NM_021870.3(FGG):c.331A>T (p.Lys111Ter) rs1578812509
NM_021870.3(FGG):c.666+23T>A rs1578810856
NM_021870.3(FGG):c.667-320A>T rs587776839
NM_021870.3(FGG):c.78+5G>A rs587776837
NM_021871.4(FGA):c.117del (p.Val40fs) rs762964798
NM_021871.4(FGA):c.1541del (p.Pro514fs)
NM_021871.4(FGA):c.180G>A (p.Trp60Ter)
NM_021871.4(FGA):c.448C>T (p.Gln150Ter) rs763715993
NM_021871.4(FGA):c.711dup (p.Lys238Ter) rs606231225
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_021871.4(FGA):c.811C>T (p.Arg271Ter) rs1578796476
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.6(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022788.5(P2RY12):c.717_718del (p.Ile240fs) rs1560045738
NM_024420.3(PLA2G4A):c.1454G>A (p.Arg485His) rs121434635
NM_024420.3(PLA2G4A):c.1723G>C (p.Asp575His) rs1557895416
NM_024420.3(PLA2G4A):c.2118+4_2118+7del rs1557901999
NM_024420.3(PLA2G4A):c.331T>C (p.Ser111Pro) rs121434634
NM_024420.3(PLA2G4A):c.494dup (p.Arg166fs) rs1571392612
NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter) rs2067971306
NM_024747.6(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) rs1590263662
NM_024747.6(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.6(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.6(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.6(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.6(HPS6):c.1942C>T (p.Gln648Ter)
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.6(HPS6):c.455C>G (p.Ser152Ter)
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs) rs752399257
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.6(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_025265.4(TSEN2):c.1100-5T>A
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs) rs752074481
NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter) rs727502866
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1291del (p.Leu431fs)
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.1631del (p.Lys544fs)
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter)
NM_032383.5(HPS3):c.2805G>A (p.Trp935Ter)
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_032383.5(HPS3):c.319C>T (p.Arg107Ter)
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)
NM_032383.5(HPS3):c.882T>G (p.Tyr294Ter)
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A]
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter) rs121908476
NM_139027.6(ADAMTS13):c.1456_1457del (p.Met486fs)
NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)
NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly) rs121908473
NM_139027.6(ADAMTS13):c.1783_1784del (p.Leu595fs) rs387906344
NM_139027.6(ADAMTS13):c.2209T>C (p.Cys737Arg) rs1554791280
NM_139027.6(ADAMTS13):c.2376_2401del (p.Ala793fs) rs387906342
NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs) rs1588198044
NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter)
NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp) rs121908467
NM_139027.6(ADAMTS13):c.291_319del (p.Glu98fs) rs387906345
NM_139027.6(ADAMTS13):c.2920_2938del (p.Ile974fs)
NM_139027.6(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp) rs387906346
NM_139027.6(ADAMTS13):c.3198_3199del (p.Cys1067fs)
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)
NM_139027.6(ADAMTS13):c.330+1G>A rs375415632
NM_139027.6(ADAMTS13):c.331-1G>A rs786205078
NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg)
NM_139027.6(ADAMTS13):c.3602dup (p.Leu1202fs) rs387906341
NM_139027.6(ADAMTS13):c.414+1G>A rs786205077
NM_139027.6(ADAMTS13):c.722del (p.Gly241fs)
NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val) rs121908478
NM_139027.6(ADAMTS13):c.799_808del (p.Arg267fs)
NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro) rs121908477
NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)
NM_139279.6(MCFD2):c.103del (p.Gln35fs) rs1253799389
NM_139279.6(MCFD2):c.241G>T (p.Asp81Tyr) rs78289603
NM_139279.6(MCFD2):c.265_272del (p.Asp89fs) rs1558461545
NM_139279.6(MCFD2):c.309+1G>A rs387906287
NM_139279.6(MCFD2):c.387C>G (p.Asp129Glu) rs137852913
NM_145167.3(PIGM):c.401del (p.Asn134fs)
NM_172351.3(CD46):c.126_127del (p.Glu42fs)
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856
NM_172351.3(CD46):c.404del (p.Gly135fs) rs1571588257
NM_172351.3(CD46):c.476-1G>A rs1441390681
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_172351.3(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.735del (p.Lys245fs)
NM_172351.3(CD46):c.776del (p.Gly259fs) rs886039868
NM_172351.3(CD46):c.828G>A (p.Trp276Ter) rs1571617647
NM_172351.3(CD46):c.907del (p.Arg303fs)
NM_181507.2(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.1900del (p.Glu634fs) rs1131692146
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter) rs779921624
NM_181507.2(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.2(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs) rs1131692151
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.2(HPS5):c.3058+3A>G rs113304476
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del) rs753928208
NM_181507.2(HPS5):c.739dup (p.Glu247fs)
NM_181507.2(HPS5):c.818_822del (p.Thr273fs) rs1131692147
NM_181507.2(HPS5):c.879dup (p.Lys294fs) rs281865101
NM_181507.2(HPS5):c.888dup (p.His297fs)
NM_201280.2:c.196-678_384+3483del
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter) rs567410388
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) rs754841982
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs) rs281865116
PROC, ARG12TRP
PROS1, 1-BP INS, 146A
PROS1, ARG410TER
PROS1, IVS10DS, G-A, +5
Single allele
WAS, 15,800-BP DEL
nsv1067844

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