Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.133436777_133436906delCA2692369326ADAMTS13c.1309-52_1386del
c.1216-52_1293del
c.565-52_642del
c.*113-52_*190del
n.974-2589_974-2460del
c.*593-52_*670del
n.993-2589_993-2460del
c.919-52_996del
c.325-52_402del
c.319-52_396del
c.-27-52_51del
c.95-52_172del
c.687-8086_687-7957del (n.687-8086_687-7957del)
c.1297-52_1374del
n.2534-52_2611del
n.995-2589_995-2460del
 gnomAD v4
9g.133436777_133436928delCA2692369329ADAMTS13c.1309-52_1408del
c.1216-52_1315del
c.565-52_664del
c.*113-52_*212del
n.974-2589_974-2438del
c.*593-52_*692del
n.993-2589_993-2438del
c.919-52_1018del
c.325-52_424del
c.319-52_418del
c.-27-52_73del
c.95-52_194del
c.687-8086_687-7935del (n.687-8086_687-7935del)
c.1297-52_1396del
n.2534-52_2633del
n.995-2589_995-2438del
 gnomAD v4
9g.133436825_133436906delCA2692370883ADAMTS13c.1309-4_1386del
c.1216-4_1293del
c.565-4_642del
c.*113-4_*190del
n.974-2541_974-2460del
c.*593-4_*670del
n.993-2541_993-2460del
c.919-4_996del
c.325-4_402del
c.319-4_396del
c.-27-4_51del
c.95-4_172del
c.687-8038_687-7957del (n.687-8038_687-7957del)
c.1297-4_1374del
n.2534-4_2611del
n.995-2541_995-2460del
 gnomAD v4
9g.133436830_133436906delCA2692370907ADAMTS13c.1310_1386del (p.Ala437GlyfsTer?)
c.1217_1293del (p.Ala406GlyfsTer?)
c.566_642del (p.Ala189GlyfsTer?)
c.*114_*190del (n.*114_*190del)
n.974-2536_974-2460del
c.*594_*670del (n.*594_*670del)
n.993-2536_993-2460del
c.920_996del (p.Ala307GlyfsTer?)
c.326_402del (p.Ala109GlyfsTer?)
c.320_396del (p.Ala107GlyfsTer?)
c.-26_51del
c.96_172del (p.Leu33AlafsTer?)
c.687-8033_687-7957del (n.687-8033_687-7957del)
c.1298_1374del (p.Ala433GlyfsTer?)
n.2535_2611del
n.995-2536_995-2460del
 gnomAD v4
9g.133436830_133436928delCA2692370909ADAMTS13c.1310_1408del (p.Ala437_Trp470delinsGly)
c.1217_1315del (p.Ala406_Trp439delinsGly)
c.566_664del (p.Ala189_Trp222delinsGly)
c.*114_*212del (n.*114_*212del)
n.974-2536_974-2438del
c.*594_*692del (n.*594_*692del)
n.993-2536_993-2438del
c.920_1018del (p.Ala307_Trp340delinsGly)
c.326_424del (p.Ala109_Trp142delinsGly)
c.320_418del (p.Ala107_Trp140delinsGly)
c.-26_73del
c.96_194del (p.Leu33_Leu65del)
c.687-8033_687-7935del (n.687-8033_687-7935del)
c.1298_1396del (p.Ala433_Trp466delinsGly)
n.2535_2633del
n.995-2536_995-2438del
 gnomAD v4
9g.133436851_133436874delCA2692371013ADAMTS13c.1331_1354del (p.Glu444_Arg452delinsGly)
c.1238_1261del (p.Glu413_Arg421delinsGly)
c.587_610del (p.Glu196_Arg204delinsGly)
c.*135_*158del (n.*135_*158del)
n.974-2515_974-2492del
c.*615_*638del (n.*615_*638del)
n.993-2515_993-2492del
c.941_964del (p.Glu314_Arg322delinsGly)
c.347_370del (p.Glu116_Arg124delinsGly)
c.341_364del (p.Glu114_Arg122delinsGly)
c.-5_19del
c.117_140del (p.Val40_Gln47del)
c.687-8012_687-7989del (n.687-8012_687-7989del)
c.1319_1342del (p.Glu440_Arg448delinsGly)
n.2556_2579del
n.995-2515_995-2492del
 gnomAD v4
9g.133436853_133436874delCA2573050850ADAMTS13c.1333_1354del (p.Phe445GlyfsTer?)
c.1240_1261del (p.Phe414GlyfsTer?)
c.589_610del (p.Phe197GlyfsTer?)
c.*137_*158del (n.*137_*158del)
n.974-2513_974-2492del
c.*617_*638del (n.*617_*638del)
n.993-2513_993-2492del
c.943_964del (p.Phe315GlyfsTer?)
c.349_370del (p.Phe117GlyfsTer?)
c.343_364del (p.Phe115GlyfsTer?)
c.-3_19del
c.119_140del (p.Val40GlyfsTer?)
c.687-8010_687-7989del (n.687-8010_687-7989del)
c.1321_1342del (p.Phe441GlyfsTer?)
n.2558_2579del
n.995-2513_995-2492del
 gnomAD v4
9g.133436869G>ACA375391577ADAMTS13c.1349G>A (p.Cys450Tyr)
c.1256G>A (p.Cys419Tyr)
c.605G>A (p.Cys202Tyr)
c.*153G>A (n.*153G>A)
n.974-2497G>A
c.*633G>A (n.*633G>A)
n.993-2497G>A
c.959G>A (p.Cys320Tyr)
c.365G>A (p.Cys122Tyr)
c.359G>A (p.Cys120Tyr)
c.14G>A (p.Cys5Tyr)
c.135G>A (p.Val45=)
c.687-7994G>A (n.687-7994G>A)
c.1337G>A (p.Cys446Tyr)
n.2574G>A
n.995-2497G>A
9g.133436869G>CCA375391574ADAMTS13c.1349G>C (p.Cys450Ser)
c.1256G>C (p.Cys419Ser)
c.605G>C (p.Cys202Ser)
c.*153G>C (n.*153G>C)
n.974-2497G>C
c.*633G>C (n.*633G>C)
n.993-2497G>C
c.959G>C (p.Cys320Ser)
c.365G>C (p.Cys122Ser)
c.359G>C (p.Cys120Ser)
c.14G>C (p.Cys5Ser)
c.135G>C (p.Val45=)
c.687-7994G>C (n.687-7994G>C)
c.1337G>C (p.Cys446Ser)
n.2574G>C
n.995-2497G>C
9g.133436869G>TCA375391575ADAMTS13c.1349G>T (p.Cys450Phe)
c.1256G>T (p.Cys419Phe)
c.605G>T (p.Cys202Phe)
c.*153G>T (n.*153G>T)
n.974-2497G>T
c.*633G>T (n.*633G>T)
n.993-2497G>T
c.959G>T (p.Cys320Phe)
c.365G>T (p.Cys122Phe)
c.359G>T (p.Cys120Phe)
c.14G>T (p.Cys5Phe)
c.135G>T (p.Val45=)
c.687-7994G>T (n.687-7994G>T)
c.1337G>T (p.Cys446Phe)
n.2574G>T
n.995-2497G>T
 gnomAD v4
9g.133436870delCA2692371117ADAMTS13c.1350del (p.Cys450TrpfsTer?)
c.1257del (p.Cys419TrpfsTer?)
c.606del (p.Cys202TrpfsTer?)
c.*154del (n.*154del)
n.974-2496del
c.*634del (n.*634del)
n.993-2496del
c.960del (p.Cys320TrpfsTer?)
c.366del (p.Cys122TrpfsTer?)
c.360del (p.Cys120TrpfsTer?)
c.15del (p.Cys5TrpfsTer?)
c.136del (p.Arg46AlafsTer?)
c.687-7993del (n.687-7993del)
c.1338del (p.Cys446TrpfsTer?)
n.2575del
n.995-2496del
 gnomAD v4
9g.133436870C>ACA375391580ADAMTS13c.1350C>A (p.Cys450Ter)
c.1257C>A (p.Cys419Ter)
c.606C>A (p.Cys202Ter)
c.*154C>A (n.*154C>A)
n.974-2496C>A
c.*634C>A (n.*634C>A)
n.993-2496C>A
c.960C>A (p.Cys320Ter)
c.366C>A (p.Cys122Ter)
c.360C>A (p.Cys120Ter)
c.15C>A (p.Cys5Ter)
c.136C>A (p.Arg46Ser)
c.687-7993C>A (n.687-7993C>A)
c.1338C>A (p.Cys446Ter)
n.2575C>A
n.995-2496C>A
 gnomAD v4
9g.133436870C=CA1882673130ADAMTS13c.1350C= (p.Cys450=)
c.1257C= (p.Cys419=)
c.606C= (p.Cys202=)
c.*154C= (n.*154C=)
n.974-2496C=
c.*634C= (n.*634C=)
n.993-2496C=
c.960C= (p.Cys320=)
c.366C= (p.Cys122=)
c.360C= (p.Cys120=)
c.15C= (p.Cys5=)
c.136C= (p.Arg46=)
c.687-7993C= (n.687-7993C=)
c.1338C= (p.Cys446=)
n.2575C=
n.995-2496C=
9g.133436870C>GCA375391581ADAMTS13c.1350C>G (p.Cys450Trp)
c.1257C>G (p.Cys419Trp)
c.606C>G (p.Cys202Trp)
c.*154C>G (n.*154C>G)
n.974-2496C>G
c.*634C>G (n.*634C>G)
n.993-2496C>G
c.960C>G (p.Cys320Trp)
c.366C>G (p.Cys122Trp)
c.360C>G (p.Cys120Trp)
c.15C>G (p.Cys5Trp)
c.136C>G (p.Arg46Gly)
c.687-7993C>G (n.687-7993C>G)
c.1338C>G (p.Cys446Trp)
n.2575C>G
n.995-2496C>G
 gnomAD v4
9g.133436870C>TCA200929622ADAMTS13c.1350C>T (p.Cys450=)
c.1257C>T (p.Cys419=)
c.606C>T (p.Cys202=)
c.*154C>T (n.*154C>T)
n.974-2496C>T
c.*634C>T (n.*634C>T)
n.993-2496C>T
c.960C>T (p.Cys320=)
c.366C>T (p.Cys122=)
c.360C>T (p.Cys120=)
c.15C>T (p.Cys5=)
c.136C>T (p.Arg46Cys)
c.687-7993C>T (n.687-7993C>T)
c.1338C>T (p.Cys446=)
n.2575C>T
n.995-2496C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436871G>ACA200929626ADAMTS13c.1351G>A (p.Ala451Thr)
c.1258G>A (p.Ala420Thr)
c.607G>A (p.Ala203Thr)
c.*155G>A (n.*155G>A)
n.974-2495G>A
c.*635G>A (n.*635G>A)
n.993-2495G>A
c.961G>A (p.Ala321Thr)
c.367G>A (p.Ala123Thr)
c.361G>A (p.Ala121Thr)
c.16G>A (p.Ala6Thr)
c.137G>A (p.Arg46His)
c.687-7992G>A (n.687-7992G>A)
c.1339G>A (p.Ala447Thr)
n.2576G>A
n.995-2495G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436871G>CCA375391586ADAMTS13c.1351G>C (p.Ala451Pro)
c.1258G>C (p.Ala420Pro)
c.607G>C (p.Ala203Pro)
c.*155G>C (n.*155G>C)
n.974-2495G>C
c.*635G>C (n.*635G>C)
n.993-2495G>C
c.961G>C (p.Ala321Pro)
c.367G>C (p.Ala123Pro)
c.361G>C (p.Ala121Pro)
c.16G>C (p.Ala6Pro)
c.137G>C (p.Arg46Pro)
c.687-7992G>C (n.687-7992G>C)
c.1339G>C (p.Ala447Pro)
n.2576G>C
n.995-2495G>C
 gnomAD v4
9g.133436871G=CA1882673131ADAMTS13c.1351G= (p.Ala451=)
c.1258G= (p.Ala420=)
c.607G= (p.Ala203=)
c.*155G= (n.*155G=)
n.974-2495G=
c.*635G= (n.*635G=)
n.993-2495G=
c.961G= (p.Ala321=)
c.367G= (p.Ala123=)
c.361G= (p.Ala121=)
c.16G= (p.Ala6=)
c.137G= (p.Arg46=)
c.687-7992G= (n.687-7992G=)
c.1339G= (p.Ala447=)
n.2576G=
n.995-2495G=
9g.133436871G>TCA375391589ADAMTS13c.1351G>T (p.Ala451Ser)
c.1258G>T (p.Ala420Ser)
c.607G>T (p.Ala203Ser)
c.*155G>T (n.*155G>T)
n.974-2495G>T
c.*635G>T (n.*635G>T)
n.993-2495G>T
c.961G>T (p.Ala321Ser)
c.367G>T (p.Ala123Ser)
c.361G>T (p.Ala121Ser)
c.16G>T (p.Ala6Ser)
c.137G>T (p.Arg46Leu)
c.687-7992G>T (n.687-7992G>T)
c.1339G>T (p.Ala447Ser)
n.2576G>T
n.995-2495G>T
 dbSNP gnomAD v3 gnomAD v4
9g.133436871_133436877dupCA2692371123ADAMTS13c.1351_1357dup (p.Thr453SerfsTer?)
c.1258_1264dup (p.Thr422SerfsTer?)
c.607_613dup (p.Thr205SerfsTer?)
c.*155_*161dup (n.*155_*161dup)
n.974-2495_974-2489dup
c.*635_*641dup (n.*635_*641dup)
n.993-2495_993-2489dup
c.961_967dup (p.Thr323SerfsTer?)
c.367_373dup (p.Thr125SerfsTer?)
c.361_367dup (p.Thr123SerfsTer?)
c.16_22dup (p.Thr8SerfsTer?)
c.137_143dup (p.Asp48GlufsTer?)
c.687-7992_687-7986dup (n.687-7992_687-7986dup)
c.1339_1345dup (p.Thr449SerfsTer?)
n.2576_2582dup
n.995-2495_995-2489dup
 gnomAD v4
9g.133436872C>ACA375391591ADAMTS13c.1352C>A (p.Ala451Asp)
c.1259C>A (p.Ala420Asp)
c.608C>A (p.Ala203Asp)
c.*156C>A (n.*156C>A)
n.974-2494C>A
c.*636C>A (n.*636C>A)
n.993-2494C>A
c.962C>A (p.Ala321Asp)
c.368C>A (p.Ala123Asp)
c.362C>A (p.Ala121Asp)
c.17C>A (p.Ala6Asp)
c.138C>A (p.Arg46=)
c.687-7991C>A (n.687-7991C>A)
c.1340C>A (p.Ala447Asp)
n.2577C>A
n.995-2494C>A
9g.133436872C>GCA375391593ADAMTS13c.1352C>G (p.Ala451Gly)
c.1259C>G (p.Ala420Gly)
c.608C>G (p.Ala203Gly)
c.*156C>G (n.*156C>G)
n.974-2494C>G
c.*636C>G (n.*636C>G)
n.993-2494C>G
c.962C>G (p.Ala321Gly)
c.368C>G (p.Ala123Gly)
c.362C>G (p.Ala121Gly)
c.17C>G (p.Ala6Gly)
c.138C>G (p.Arg46=)
c.687-7991C>G (n.687-7991C>G)
c.1340C>G (p.Ala447Gly)
n.2577C>G
n.995-2494C>G
9g.133436872C>TCA375391594ADAMTS13c.1352C>T (p.Ala451Val)
c.1259C>T (p.Ala420Val)
c.608C>T (p.Ala203Val)
c.*156C>T (n.*156C>T)
n.974-2494C>T
c.*636C>T (n.*636C>T)
n.993-2494C>T
c.962C>T (p.Ala321Val)
c.368C>T (p.Ala123Val)
c.362C>T (p.Ala121Val)
c.17C>T (p.Ala6Val)
c.138C>T (p.Arg46=)
c.687-7991C>T (n.687-7991C>T)
c.1340C>T (p.Ala447Val)
n.2577C>T
n.995-2494C>T
9g.133436872_133436874delCA2692371127ADAMTS13c.1352_1354del (p.Ala451_Arg452delinsGly)
c.1259_1261del (p.Ala420_Arg421delinsGly)
c.608_610del (p.Ala203_Arg204delinsGly)
c.*156_*158del (n.*156_*158del)
n.974-2494_974-2492del
c.*636_*638del (n.*636_*638del)
n.993-2494_993-2492del
c.962_964del (p.Ala321_Arg322delinsGly)
c.368_370del (p.Ala123_Arg124delinsGly)
c.362_364del (p.Ala121_Arg122delinsGly)
c.17_19del (p.Ala6_Arg7delinsGly)
c.138_140del (p.Gln47del)
c.687-7991_687-7989del (n.687-7991_687-7989del)
c.1340_1342del (p.Ala447_Arg448delinsGly)
n.2577_2579del
n.995-2494_995-2492del
 gnomAD v4
9g.133436873C>ACA2692371129ADAMTS13c.1353C>A (p.Ala451=)
c.1260C>A (p.Ala420=)
c.609C>A (p.Ala203=)
c.*157C>A (n.*157C>A)
n.974-2493C>A
c.*637C>A (n.*637C>A)
n.993-2493C>A
c.963C>A (p.Ala321=)
c.369C>A (p.Ala123=)
c.363C>A (p.Ala121=)
c.18C>A (p.Ala6=)
c.139C>A (p.Gln47Lys)
c.687-7990C>A (n.687-7990C>A)
c.1341C>A (p.Ala447=)
n.2578C>A
n.995-2493C>A
 gnomAD v4
9g.133436874A=CA1882673132ADAMTS13c.1354A= (p.Arg452=)
c.1261A= (p.Arg421=)
c.610A= (p.Arg204=)
c.*158A= (n.*158A=)
n.974-2492A=
c.*638A= (n.*638A=)
n.993-2492A=
c.964A= (p.Arg322=)
c.370A= (p.Arg124=)
c.364A= (p.Arg122=)
c.19A= (p.Arg7=)
c.140A= (p.Gln47=)
c.687-7989A= (n.687-7989A=)
c.1342A= (p.Arg448=)
n.2579A=
n.995-2492A=
9g.133436874A>GCA375391596ADAMTS13c.1354A>G (p.Arg452Gly)
c.1261A>G (p.Arg421Gly)
c.610A>G (p.Arg204Gly)
c.*158A>G (n.*158A>G)
n.974-2492A>G
c.*638A>G (n.*638A>G)
n.993-2492A>G
c.964A>G (p.Arg322Gly)
c.370A>G (p.Arg124Gly)
c.364A>G (p.Arg122Gly)
c.19A>G (p.Arg7Gly)
c.140A>G (p.Gln47Arg)
c.687-7989A>G (n.687-7989A>G)
c.1342A>G (p.Arg448Gly)
n.2579A>G
n.995-2492A>G
 dbSNP gnomAD v4
9g.133436874A>TCA375391597ADAMTS13c.1354A>T (p.Arg452Trp)
c.1261A>T (p.Arg421Trp)
c.610A>T (p.Arg204Trp)
c.*158A>T (n.*158A>T)
n.974-2492A>T
c.*638A>T (n.*638A>T)
n.993-2492A>T
c.964A>T (p.Arg322Trp)
c.370A>T (p.Arg124Trp)
c.364A>T (p.Arg122Trp)
c.19A>T (p.Arg7Trp)
c.140A>T (p.Gln47Leu)
c.687-7989A>T (n.687-7989A>T)
c.1342A>T (p.Arg448Trp)
n.2579A>T
n.995-2492A>T
9g.133436875G>ACA375391601ADAMTS13c.1355G>A (p.Arg452Lys)
c.1262G>A (p.Arg421Lys)
c.611G>A (p.Arg204Lys)
c.*159G>A (n.*159G>A)
n.974-2491G>A
c.*639G>A (n.*639G>A)
n.993-2491G>A
c.965G>A (p.Arg322Lys)
c.371G>A (p.Arg124Lys)
c.365G>A (p.Arg122Lys)
c.20G>A (p.Arg7Lys)
c.141G>A (p.Gln47=)
c.687-7988G>A (n.687-7988G>A)
c.1343G>A (p.Arg448Lys)
n.2580G>A
n.995-2491G>A
 dbSNP gnomAD v4
9g.133436875G>CCA375391603ADAMTS13c.1355G>C (p.Arg452Thr)
c.1262G>C (p.Arg421Thr)
c.611G>C (p.Arg204Thr)
c.*159G>C (n.*159G>C)
n.974-2491G>C
c.*639G>C (n.*639G>C)
n.993-2491G>C
c.965G>C (p.Arg322Thr)
c.371G>C (p.Arg124Thr)
c.365G>C (p.Arg122Thr)
c.20G>C (p.Arg7Thr)
c.141G>C (p.Gln47His)
c.687-7988G>C (n.687-7988G>C)
c.1343G>C (p.Arg448Thr)
n.2580G>C
n.995-2491G>C
9g.133436875G=CA1882673133ADAMTS13c.1355G= (p.Arg452=)
c.1262G= (p.Arg421=)
c.611G= (p.Arg204=)
c.*159G= (n.*159G=)
n.974-2491G=
c.*639G= (n.*639G=)
n.993-2491G=
c.965G= (p.Arg322=)
c.371G= (p.Arg124=)
c.365G= (p.Arg122=)
c.20G= (p.Arg7=)
c.141G= (p.Gln47=)
c.687-7988G= (n.687-7988G=)
c.1343G= (p.Arg448=)
n.2580G=
n.995-2491G=
9g.133436875G>TCA375391599ADAMTS13c.1355G>T (p.Arg452Met)
c.1262G>T (p.Arg421Met)
c.611G>T (p.Arg204Met)
c.*159G>T (n.*159G>T)
n.974-2491G>T
c.*639G>T (n.*639G>T)
n.993-2491G>T
c.965G>T (p.Arg322Met)
c.371G>T (p.Arg124Met)
c.365G>T (p.Arg122Met)
c.20G>T (p.Arg7Met)
c.141G>T (p.Gln47His)
c.687-7988G>T (n.687-7988G>T)
c.1343G>T (p.Arg448Met)
n.2580G>T
n.995-2491G>T
 gnomAD v4
9g.133436876G>ACA200929627ADAMTS13c.1356G>A (p.Arg452=)
c.1263G>A (p.Arg421=)
c.612G>A (p.Arg204=)
c.*160G>A (n.*160G>A)
n.974-2490G>A
c.*640G>A (n.*640G>A)
n.993-2490G>A
c.966G>A (p.Arg322=)
c.372G>A (p.Arg124=)
c.366G>A (p.Arg122=)
c.21G>A (p.Arg7=)
c.142G>A (p.Asp48Asn)
c.687-7987G>A (n.687-7987G>A)
c.1344G>A (p.Arg448=)
n.2581G>A
n.995-2490G>A
 ClinVar dbSNP gnomAD v4 COSMIC
9g.133436876G>CCA375391606ADAMTS13c.1356G>C (p.Arg452Ser)
c.1263G>C (p.Arg421Ser)
c.612G>C (p.Arg204Ser)
c.*160G>C (n.*160G>C)
n.974-2490G>C
c.*640G>C (n.*640G>C)
n.993-2490G>C
c.966G>C (p.Arg322Ser)
c.372G>C (p.Arg124Ser)
c.366G>C (p.Arg122Ser)
c.21G>C (p.Arg7Ser)
c.142G>C (p.Asp48His)
c.687-7987G>C (n.687-7987G>C)
c.1344G>C (p.Arg448Ser)
n.2581G>C
n.995-2490G>C
9g.133436876G=CA1882673134ADAMTS13c.1356G= (p.Arg452=)
c.1263G= (p.Arg421=)
c.612G= (p.Arg204=)
c.*160G= (n.*160G=)
n.974-2490G=
c.*640G= (n.*640G=)
n.993-2490G=
c.966G= (p.Arg322=)
c.372G= (p.Arg124=)
c.366G= (p.Arg122=)
c.21G= (p.Arg7=)
c.142G= (p.Asp48=)
c.687-7987G= (n.687-7987G=)
c.1344G= (p.Arg448=)
n.2581G=
n.995-2490G=
9g.133436876G>TCA375391608ADAMTS13c.1356G>T (p.Arg452Ser)
c.1263G>T (p.Arg421Ser)
c.612G>T (p.Arg204Ser)
c.*160G>T (n.*160G>T)
n.974-2490G>T
c.*640G>T (n.*640G>T)
n.993-2490G>T
c.966G>T (p.Arg322Ser)
c.372G>T (p.Arg124Ser)
c.366G>T (p.Arg122Ser)
c.21G>T (p.Arg7Ser)
c.142G>T (p.Asp48Tyr)
c.687-7987G>T (n.687-7987G>T)
c.1344G>T (p.Arg448Ser)
n.2581G>T
n.995-2490G>T
 gnomAD v4
9g.133436877A>CCA375391610ADAMTS13c.1357A>C (p.Thr453Pro)
c.1264A>C (p.Thr422Pro)
c.613A>C (p.Thr205Pro)
c.*161A>C (n.*161A>C)
n.974-2489A>C
c.*641A>C (n.*641A>C)
n.993-2489A>C
c.967A>C (p.Thr323Pro)
c.373A>C (p.Thr125Pro)
c.367A>C (p.Thr123Pro)
c.22A>C (p.Thr8Pro)
c.143A>C (p.Asp48Ala)
c.687-7986A>C (n.687-7986A>C)
c.1345A>C (p.Thr449Pro)
n.2582A>C
n.995-2489A>C
9g.133436877A>GCA375391613ADAMTS13c.1357A>G (p.Thr453Ala)
c.1264A>G (p.Thr422Ala)
c.613A>G (p.Thr205Ala)
c.*161A>G (n.*161A>G)
n.974-2489A>G
c.*641A>G (n.*641A>G)
n.993-2489A>G
c.967A>G (p.Thr323Ala)
c.373A>G (p.Thr125Ala)
c.367A>G (p.Thr123Ala)
c.22A>G (p.Thr8Ala)
c.143A>G (p.Asp48Gly)
c.687-7986A>G (n.687-7986A>G)
c.1345A>G (p.Thr449Ala)
n.2582A>G
n.995-2489A>G
 gnomAD v4
9g.133436877A>TCA375391614ADAMTS13c.1357A>T (p.Thr453Ser)
c.1264A>T (p.Thr422Ser)
c.613A>T (p.Thr205Ser)
c.*161A>T (n.*161A>T)
n.974-2489A>T
c.*641A>T (n.*641A>T)
n.993-2489A>T
c.967A>T (p.Thr323Ser)
c.373A>T (p.Thr125Ser)
c.367A>T (p.Thr123Ser)
c.22A>T (p.Thr8Ser)
c.143A>T (p.Asp48Val)
c.687-7986A>T (n.687-7986A>T)
c.1345A>T (p.Thr449Ser)
n.2582A>T
n.995-2489A>T
 gnomAD v4
9g.133436877_133436879delCA2692371145ADAMTS13c.1357_1359del (p.Thr453del)
c.1264_1266del (p.Thr422del)
c.613_615del (p.Thr205del)
c.*161_*163del (n.*161_*163del)
n.974-2489_974-2487del
c.*641_*643del (n.*641_*643del)
n.993-2489_993-2487del
c.967_969del (p.Thr323del)
c.373_375del (p.Thr125del)
c.367_369del (p.Thr123del)
c.22_24del (p.Thr8del)
c.143_145del (p.Asp48_Arg49delinsGly)
c.687-7986_687-7984del (n.687-7986_687-7984del)
c.1345_1347del (p.Thr449del)
n.2582_2584del
n.995-2489_995-2487del
 gnomAD v4
9g.133436877_133436882delCA2692371147ADAMTS13c.1357_1362del (p.Thr453_Asp454del)
c.1264_1269del (p.Thr422_Asp423del)
c.613_618del (p.Thr205_Asp206del)
c.*161_*166del (n.*161_*166del)
n.974-2489_974-2484del
c.*641_*646del (n.*641_*646del)
n.993-2489_993-2484del
c.967_972del (p.Thr323_Asp324del)
c.373_378del (p.Thr125_Asp126del)
c.367_372del (p.Thr123_Asp124del)
c.22_27del (p.Thr8_Asp9del)
c.143_148del (p.Asp48_Arg50delinsGly)
c.687-7986_687-7981del (n.687-7986_687-7981del)
c.1345_1350del (p.Thr449_Asp450del)
n.2582_2587del
n.995-2489_995-2484del
 gnomAD v4
9g.133436878C>ACA375391617ADAMTS13c.1358C>A (p.Thr453Asn)
c.1265C>A (p.Thr422Asn)
c.614C>A (p.Thr205Asn)
c.*162C>A (n.*162C>A)
n.974-2488C>A
c.*642C>A (n.*642C>A)
n.993-2488C>A
c.968C>A (p.Thr323Asn)
c.374C>A (p.Thr125Asn)
c.368C>A (p.Thr123Asn)
c.23C>A (p.Thr8Asn)
c.144C>A (p.Asp48Glu)
c.687-7985C>A (n.687-7985C>A)
c.1346C>A (p.Thr449Asn)
n.2583C>A
n.995-2488C>A
9g.133436878C>GCA375391619ADAMTS13c.1358C>G (p.Thr453Ser)
c.1265C>G (p.Thr422Ser)
c.614C>G (p.Thr205Ser)
c.*162C>G (n.*162C>G)
n.974-2488C>G
c.*642C>G (n.*642C>G)
n.993-2488C>G
c.968C>G (p.Thr323Ser)
c.374C>G (p.Thr125Ser)
c.368C>G (p.Thr123Ser)
c.23C>G (p.Thr8Ser)
c.144C>G (p.Asp48Glu)
c.687-7985C>G (n.687-7985C>G)
c.1346C>G (p.Thr449Ser)
n.2583C>G
n.995-2488C>G
9g.133436878C>TCA375391620ADAMTS13c.1358C>T (p.Thr453Ile)
c.1265C>T (p.Thr422Ile)
c.614C>T (p.Thr205Ile)
c.*162C>T (n.*162C>T)
n.974-2488C>T
c.*642C>T (n.*642C>T)
n.993-2488C>T
c.968C>T (p.Thr323Ile)
c.374C>T (p.Thr125Ile)
c.368C>T (p.Thr123Ile)
c.23C>T (p.Thr8Ile)
c.144C>T (p.Asp48=)
c.687-7985C>T (n.687-7985C>T)
c.1346C>T (p.Thr449Ile)
n.2583C>T
n.995-2488C>T
 gnomAD v4
9g.133436879C>ACA2692371157ADAMTS13c.1359C>A (p.Thr453=)
c.1266C>A (p.Thr422=)
c.615C>A (p.Thr205=)
c.*163C>A (n.*163C>A)
n.974-2487C>A
c.*643C>A (n.*643C>A)
n.993-2487C>A
c.969C>A (p.Thr323=)
c.375C>A (p.Thr125=)
c.369C>A (p.Thr123=)
c.24C>A (p.Thr8=)
c.145C>A (p.Arg49=)
c.687-7984C>A (n.687-7984C>A)
c.1347C>A (p.Thr449=)
n.2584C>A
n.995-2487C>A
 gnomAD v4
9g.133436879C=CA1882673135ADAMTS13c.1359C= (p.Thr453=)
c.1266C= (p.Thr422=)
c.615C= (p.Thr205=)
c.*163C= (n.*163C=)
n.974-2487C=
c.*643C= (n.*643C=)
n.993-2487C=
c.969C= (p.Thr323=)
c.375C= (p.Thr125=)
c.369C= (p.Thr123=)
c.24C= (p.Thr8=)
c.145C= (p.Arg49=)
c.687-7984C= (n.687-7984C=)
c.1347C= (p.Thr449=)
n.2584C=
n.995-2487C=
9g.133436879C>TCA10632754ADAMTS13c.1359C>T (p.Thr453=)
c.1266C>T (p.Thr422=)
c.615C>T (p.Thr205=)
c.*163C>T (n.*163C>T)
n.974-2487C>T
c.*643C>T (n.*643C>T)
n.993-2487C>T
c.969C>T (p.Thr323=)
c.375C>T (p.Thr125=)
c.369C>T (p.Thr123=)
c.24C>T (p.Thr8=)
c.145C>T (p.Arg49Ter)
c.687-7984C>T (n.687-7984C>T)
c.1347C>T (p.Thr449=)
n.2584C>T
n.995-2487C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436880G>ACA200929628ADAMTS13c.1360G>A (p.Asp454Asn)
c.1267G>A (p.Asp423Asn)
c.616G>A (p.Asp206Asn)
c.*164G>A (n.*164G>A)
n.974-2486G>A
c.*644G>A (n.*644G>A)
n.993-2486G>A
c.970G>A (p.Asp324Asn)
c.376G>A (p.Asp126Asn)
c.370G>A (p.Asp124Asn)
c.25G>A (p.Asp9Asn)
c.146G>A (p.Arg49Gln)
c.687-7983G>A (n.687-7983G>A)
c.1348G>A (p.Asp450Asn)
n.2585G>A
n.995-2486G>A
 dbSNP gnomAD v3 gnomAD v4
9g.133436880G>CCA200929631ADAMTS13c.1360G>C (p.Asp454His)
c.1267G>C (p.Asp423His)
c.616G>C (p.Asp206His)
c.*164G>C (n.*164G>C)
n.974-2486G>C
c.*644G>C (n.*644G>C)
n.993-2486G>C
c.970G>C (p.Asp324His)
c.376G>C (p.Asp126His)
c.370G>C (p.Asp124His)
c.25G>C (p.Asp9His)
c.146G>C (p.Arg49Pro)
c.687-7983G>C (n.687-7983G>C)
c.1348G>C (p.Asp450His)
n.2585G>C
n.995-2486G>C
 dbSNP gnomAD v4
9g.133436880G=CA1882673136ADAMTS13c.1360G= (p.Asp454=)
c.1267G= (p.Asp423=)
c.616G= (p.Asp206=)
c.*164G= (n.*164G=)
n.974-2486G=
c.*644G= (n.*644G=)
n.993-2486G=
c.970G= (p.Asp324=)
c.376G= (p.Asp126=)
c.370G= (p.Asp124=)
c.25G= (p.Asp9=)
c.146G= (p.Arg49=)
c.687-7983G= (n.687-7983G=)
c.1348G= (p.Asp450=)
n.2585G=
n.995-2486G=
9g.133436880G>TCA375391625ADAMTS13c.1360G>T (p.Asp454Tyr)
c.1267G>T (p.Asp423Tyr)
c.616G>T (p.Asp206Tyr)
c.*164G>T (n.*164G>T)
n.974-2486G>T
c.*644G>T (n.*644G>T)
n.993-2486G>T
c.970G>T (p.Asp324Tyr)
c.376G>T (p.Asp126Tyr)
c.370G>T (p.Asp124Tyr)
c.25G>T (p.Asp9Tyr)
c.146G>T (p.Arg49Leu)
c.687-7983G>T (n.687-7983G>T)
c.1348G>T (p.Asp450Tyr)
n.2585G>T
n.995-2486G>T
 dbSNP gnomAD v3 gnomAD v4
9g.133436881delCA2692371165ADAMTS13c.1361del (p.Asp454AlafsTer?)
c.1268del (p.Asp423AlafsTer?)
c.617del (p.Asp206AlafsTer?)
c.*165del (n.*165del)
n.974-2485del
c.*645del (n.*645del)
n.993-2485del
c.971del (p.Asp324AlafsTer?)
c.377del (p.Asp126AlafsTer?)
c.371del (p.Asp124AlafsTer?)
c.26del (p.Asp9AlafsTer?)
c.147del (p.Arg50GlyfsTer?)
c.687-7982del (n.687-7982del)
c.1349del (p.Asp450AlafsTer?)
n.2586del
n.995-2485del
 gnomAD v4
9g.133436881A>CCA375391631ADAMTS13c.1361A>C (p.Asp454Ala)
c.1268A>C (p.Asp423Ala)
c.617A>C (p.Asp206Ala)
c.*165A>C (n.*165A>C)
n.974-2485A>C
c.*645A>C (n.*645A>C)
n.993-2485A>C
c.971A>C (p.Asp324Ala)
c.377A>C (p.Asp126Ala)
c.371A>C (p.Asp124Ala)
c.26A>C (p.Asp9Ala)
c.147A>C (p.Arg49=)
c.687-7982A>C (n.687-7982A>C)
c.1349A>C (p.Asp450Ala)
n.2586A>C
n.995-2485A>C
9g.133436881A>GCA375391628ADAMTS13c.1361A>G (p.Asp454Gly)
c.1268A>G (p.Asp423Gly)
c.617A>G (p.Asp206Gly)
c.*165A>G (n.*165A>G)
n.974-2485A>G
c.*645A>G (n.*645A>G)
n.993-2485A>G
c.971A>G (p.Asp324Gly)
c.377A>G (p.Asp126Gly)
c.371A>G (p.Asp124Gly)
c.26A>G (p.Asp9Gly)
c.147A>G (p.Arg49=)
c.687-7982A>G (n.687-7982A>G)
c.1349A>G (p.Asp450Gly)
n.2586A>G
n.995-2485A>G
 gnomAD v4
9g.133436881A>TCA375391627ADAMTS13c.1361A>T (p.Asp454Val)
c.1268A>T (p.Asp423Val)
c.617A>T (p.Asp206Val)
c.*165A>T (n.*165A>T)
n.974-2485A>T
c.*645A>T (n.*645A>T)
n.993-2485A>T
c.971A>T (p.Asp324Val)
c.377A>T (p.Asp126Val)
c.371A>T (p.Asp124Val)
c.26A>T (p.Asp9Val)
c.147A>T (p.Arg49=)
c.687-7982A>T (n.687-7982A>T)
c.1349A>T (p.Asp450Val)
n.2586A>T
n.995-2485A>T
9g.133436882C>ACA375391633ADAMTS13c.1362C>A (p.Asp454Glu)
c.1269C>A (p.Asp423Glu)
c.618C>A (p.Asp206Glu)
c.*166C>A (n.*166C>A)
n.974-2484C>A
c.*646C>A (n.*646C>A)
n.993-2484C>A
c.972C>A (p.Asp324Glu)
c.378C>A (p.Asp126Glu)
c.372C>A (p.Asp124Glu)
c.27C>A (p.Asp9Glu)
c.148C>A (p.Arg50=)
c.687-7981C>A (n.687-7981C>A)
c.1350C>A (p.Asp450Glu)
n.2587C>A
n.995-2484C>A
 dbSNP gnomAD v4
9g.133436882C=CA1882673137ADAMTS13c.1362C= (p.Asp454=)
c.1269C= (p.Asp423=)
c.618C= (p.Asp206=)
c.*166C= (n.*166C=)
n.974-2484C=
c.*646C= (n.*646C=)
n.993-2484C=
c.972C= (p.Asp324=)
c.378C= (p.Asp126=)
c.372C= (p.Asp124=)
c.27C= (p.Asp9=)
c.148C= (p.Arg50=)
c.687-7981C= (n.687-7981C=)
c.1350C= (p.Asp450=)
n.2587C=
n.995-2484C=
9g.133436882C>GCA375391635ADAMTS13c.1362C>G (p.Asp454Glu)
c.1269C>G (p.Asp423Glu)
c.618C>G (p.Asp206Glu)
c.*166C>G (n.*166C>G)
n.974-2484C>G
c.*646C>G (n.*646C>G)
n.993-2484C>G
c.972C>G (p.Asp324Glu)
c.378C>G (p.Asp126Glu)
c.372C>G (p.Asp124Glu)
c.27C>G (p.Asp9Glu)
c.148C>G (p.Arg50Gly)
c.687-7981C>G (n.687-7981C>G)
c.1350C>G (p.Asp450Glu)
n.2587C>G
n.995-2484C>G
 gnomAD v4
9g.133436882C>TCA200929639ADAMTS13c.1362C>T (p.Asp454=)
c.1269C>T (p.Asp423=)
c.618C>T (p.Asp206=)
c.*166C>T (n.*166C>T)
n.974-2484C>T
c.*646C>T (n.*646C>T)
n.993-2484C>T
c.972C>T (p.Asp324=)
c.378C>T (p.Asp126=)
c.372C>T (p.Asp124=)
c.27C>T (p.Asp9=)
c.148C>T (p.Arg50Trp)
c.687-7981C>T (n.687-7981C>T)
c.1350C>T (p.Asp450=)
n.2587C>T
n.995-2484C>T
 dbSNP gnomAD v3 gnomAD v4
9g.133436883G>ACA200929645ADAMTS13c.1363G>A (p.Gly455Ser)
c.1270G>A (p.Gly424Ser)
c.619G>A (p.Gly207Ser)
c.*167G>A (n.*167G>A)
n.974-2483G>A
c.*647G>A (n.*647G>A)
n.993-2483G>A
c.973G>A (p.Gly325Ser)
c.379G>A (p.Gly127Ser)
c.373G>A (p.Gly125Ser)
c.28G>A (p.Gly10Ser)
c.149G>A (p.Arg50Gln)
c.687-7980G>A (n.687-7980G>A)
c.1351G>A (p.Gly451Ser)
n.2588G>A
n.995-2483G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436883G>CCA200929651ADAMTS13c.1363G>C (p.Gly455Arg)
c.1270G>C (p.Gly424Arg)
c.619G>C (p.Gly207Arg)
c.*167G>C (n.*167G>C)
n.974-2483G>C
c.*647G>C (n.*647G>C)
n.993-2483G>C
c.973G>C (p.Gly325Arg)
c.379G>C (p.Gly127Arg)
c.373G>C (p.Gly125Arg)
c.28G>C (p.Gly10Arg)
c.149G>C (p.Arg50Pro)
c.687-7980G>C (n.687-7980G>C)
c.1351G>C (p.Gly451Arg)
n.2588G>C
n.995-2483G>C
 dbSNP gnomAD v4
9g.133436883G=CA1882673138ADAMTS13c.1363G= (p.Gly455=)
c.1270G= (p.Gly424=)
c.619G= (p.Gly207=)
c.*167G= (n.*167G=)
n.974-2483G=
c.*647G= (n.*647G=)
n.993-2483G=
c.973G= (p.Gly325=)
c.379G= (p.Gly127=)
c.373G= (p.Gly125=)
c.28G= (p.Gly10=)
c.149G= (p.Arg50=)
c.687-7980G= (n.687-7980G=)
c.1351G= (p.Gly451=)
n.2588G=
n.995-2483G=
9g.133436883G>TCA375391641ADAMTS13c.1363G>T (p.Gly455Cys)
c.1270G>T (p.Gly424Cys)
c.619G>T (p.Gly207Cys)
c.*167G>T (n.*167G>T)
n.974-2483G>T
c.*647G>T (n.*647G>T)
n.993-2483G>T
c.973G>T (p.Gly325Cys)
c.379G>T (p.Gly127Cys)
c.373G>T (p.Gly125Cys)
c.28G>T (p.Gly10Cys)
c.149G>T (p.Arg50Leu)
c.687-7980G>T (n.687-7980G>T)
c.1351G>T (p.Gly451Cys)
n.2588G>T
n.995-2483G>T
 dbSNP gnomAD v4 COSMIC
9g.133436884G>ACA375391643ADAMTS13c.1364G>A (p.Gly455Asp)
c.1271G>A (p.Gly424Asp)
c.620G>A (p.Gly207Asp)
c.*168G>A (n.*168G>A)
n.974-2482G>A
c.*648G>A (n.*648G>A)
n.993-2482G>A
c.974G>A (p.Gly325Asp)
c.380G>A (p.Gly127Asp)
c.374G>A (p.Gly125Asp)
c.29G>A (p.Gly10Asp)
c.150G>A (p.Arg50=)
c.687-7979G>A (n.687-7979G>A)
c.1352G>A (p.Gly451Asp)
n.2589G>A
n.995-2482G>A
 gnomAD v4
9g.133436884G>CCA375391644ADAMTS13c.1364G>C (p.Gly455Ala)
c.1271G>C (p.Gly424Ala)
c.620G>C (p.Gly207Ala)
c.*168G>C (n.*168G>C)
n.974-2482G>C
c.*648G>C (n.*648G>C)
n.993-2482G>C
c.974G>C (p.Gly325Ala)
c.380G>C (p.Gly127Ala)
c.374G>C (p.Gly125Ala)
c.29G>C (p.Gly10Ala)
c.150G>C (p.Arg50=)
c.687-7979G>C (n.687-7979G>C)
c.1352G>C (p.Gly451Ala)
n.2589G>C
n.995-2482G>C
9g.133436884G>TCA375391646ADAMTS13c.1364G>T (p.Gly455Val)
c.1271G>T (p.Gly424Val)
c.620G>T (p.Gly207Val)
c.*168G>T (n.*168G>T)
n.974-2482G>T
c.*648G>T (n.*648G>T)
n.993-2482G>T
c.974G>T (p.Gly325Val)
c.380G>T (p.Gly127Val)
c.374G>T (p.Gly125Val)
c.29G>T (p.Gly10Val)
c.150G>T (p.Arg50=)
c.687-7979G>T (n.687-7979G>T)
c.1352G>T (p.Gly451Val)
n.2589G>T
n.995-2482G>T
 gnomAD v4
9g.133436885C>ACA2692371208ADAMTS13c.1365C>A (p.Gly455=)
c.1272C>A (p.Gly424=)
c.621C>A (p.Gly207=)
c.*169C>A (n.*169C>A)
n.974-2481C>A
c.*649C>A (n.*649C>A)
n.993-2481C>A
c.975C>A (p.Gly325=)
c.381C>A (p.Gly127=)
c.375C>A (p.Gly125=)
c.30C>A (p.Gly10=)
c.151C>A (p.Pro51Thr)
c.687-7978C>A (n.687-7978C>A)
c.1353C>A (p.Gly451=)
n.2590C>A
n.995-2481C>A
 gnomAD v4
9g.133436885C>TCA2692371212ADAMTS13c.1365C>T (p.Gly455=)
c.1272C>T (p.Gly424=)
c.621C>T (p.Gly207=)
c.*169C>T (n.*169C>T)
n.974-2481C>T
c.*649C>T (n.*649C>T)
n.993-2481C>T
c.975C>T (p.Gly325=)
c.381C>T (p.Gly127=)
c.375C>T (p.Gly125=)
c.30C>T (p.Gly10=)
c.151C>T (p.Pro51Ser)
c.687-7978C>T (n.687-7978C>T)
c.1353C>T (p.Gly451=)
n.2590C>T
n.995-2481C>T
 gnomAD v4
9g.133436885_133436887delCA2692371193ADAMTS13c.1365_1367del (p.Gln456del)
c.1272_1274del (p.Gln425del)
c.621_623del (p.Gln208del)
c.*169_*171del (n.*169_*171del)
n.974-2481_974-2479del
c.*649_*651del (n.*649_*651del)
n.993-2481_993-2479del
c.975_977del (p.Gln326del)
c.381_383del (p.Gln128del)
c.375_377del (p.Gln126del)
c.30_32del (p.Gln11del)
c.151_153del (p.Pro51del)
c.687-7978_687-7976del (n.687-7978_687-7976del)
c.1353_1355del (p.Gln452del)
n.2590_2592del
n.995-2481_995-2479del
 gnomAD v4
9g.133436885_133436890delCA2692371195ADAMTS13c.1365_1370del (p.Gln456_Pro457del)
c.1272_1277del (p.Gln425_Pro426del)
c.621_626del (p.Gln208_Pro209del)
c.*169_*174del (n.*169_*174del)
n.974-2481_974-2476del
c.*649_*654del (n.*649_*654del)
n.993-2481_993-2476del
c.975_980del (p.Gln326_Pro327del)
c.381_386del (p.Gln128_Pro129del)
c.375_380del (p.Gln126_Pro127del)
c.30_35del (p.Gln11_Pro12del)
c.151_156del (p.Pro51_Ala52del)
c.687-7978_687-7973del (n.687-7978_687-7973del)
c.1353_1358del (p.Gln452_Pro453del)
n.2590_2595del
n.995-2481_995-2476del
 gnomAD v4
9g.133436885_133436893delCA2692371198ADAMTS13c.1365_1373del (p.Gln456_Leu458del)
c.1272_1280del (p.Gln425_Leu427del)
c.621_629del (p.Gln208_Leu210del)
c.*169_*177del (n.*169_*177del)
n.974-2481_974-2473del
c.*649_*657del (n.*649_*657del)
n.993-2481_993-2473del
c.975_983del (p.Gln326_Leu328del)
c.381_389del (p.Gln128_Leu130del)
c.375_383del (p.Gln126_Leu128del)
c.30_38del (p.Gln11_Leu13del)
c.151_159del (p.Pro51_Ala53del)
c.687-7978_687-7970del (n.687-7978_687-7970del)
c.1353_1361del (p.Gln452_Leu454del)
n.2590_2598del
n.995-2481_995-2473del
 gnomAD v4
9g.133436885_133436906delCA2573050851ADAMTS13c.1365_1386del (p.Gln456AlafsTer?)
c.1272_1293del (p.Gln425AlafsTer?)
c.621_642del (p.Gln208AlafsTer?)
c.*169_*190del (n.*169_*190del)
n.974-2481_974-2460del
c.*649_*670del (n.*649_*670del)
n.993-2481_993-2460del
c.975_996del (p.Gln326AlafsTer?)
c.381_402del (p.Gln128AlafsTer?)
c.375_396del (p.Gln126AlafsTer?)
c.30_51del (p.Gln11AlafsTer?)
c.151_172del (p.Pro51GlyfsTer?)
c.687-7978_687-7957del (n.687-7978_687-7957del)
c.1353_1374del (p.Gln452AlafsTer?)
n.2590_2611del
n.995-2481_995-2460del
 gnomAD v4
9g.133436885_133436928delCA2692371206ADAMTS13c.1365_1408del (p.Gln456GlyfsTer?)
c.1272_1315del (p.Gln425GlyfsTer?)
c.621_664del (p.Gln208GlyfsTer?)
c.*169_*212del (n.*169_*212del)
n.974-2481_974-2438del
c.*649_*692del (n.*649_*692del)
n.993-2481_993-2438del
c.975_1018del (p.Gln326GlyfsTer?)
c.381_424del (p.Gln128GlyfsTer?)
c.375_418del (p.Gln126GlyfsTer?)
c.30_73del (p.Gln11GlyfsTer?)
c.151_194del (p.Pro51GlyfsTer27)
c.687-7978_687-7935del (n.687-7978_687-7935del)
c.1353_1396del (p.Gln452GlyfsTer?)
n.2590_2633del
n.995-2481_995-2438del
 gnomAD v4
9g.133436886C>ACA375391648ADAMTS13c.1366C>A (p.Gln456Lys)
c.1273C>A (p.Gln425Lys)
c.622C>A (p.Gln208Lys)
c.*170C>A (n.*170C>A)
n.974-2480C>A
c.*650C>A (n.*650C>A)
n.993-2480C>A
c.976C>A (p.Gln326Lys)
c.382C>A (p.Gln128Lys)
c.376C>A (p.Gln126Lys)
c.31C>A (p.Gln11Lys)
c.152C>A (p.Pro51Gln)
c.687-7977C>A (n.687-7977C>A)
c.1354C>A (p.Gln452Lys)
n.2591C>A
n.995-2480C>A
 gnomAD v4
9g.133436886C=CA1882673139ADAMTS13c.1366C= (p.Gln456=)
c.1273C= (p.Gln425=)
c.622C= (p.Gln208=)
c.*170C= (n.*170C=)
n.974-2480C=
c.*650C= (n.*650C=)
n.993-2480C=
c.976C= (p.Gln326=)
c.382C= (p.Gln128=)
c.376C= (p.Gln126=)
c.31C= (p.Gln11=)
c.152C= (p.Pro51=)
c.687-7977C= (n.687-7977C=)
c.1354C= (p.Gln452=)
n.2591C=
n.995-2480C=
9g.133436886C>GCA200929654ADAMTS13c.1366C>G (p.Gln456Glu)
c.1273C>G (p.Gln425Glu)
c.622C>G (p.Gln208Glu)
c.*170C>G (n.*170C>G)
n.974-2480C>G
c.*650C>G (n.*650C>G)
n.993-2480C>G
c.976C>G (p.Gln326Glu)
c.382C>G (p.Gln128Glu)
c.376C>G (p.Gln126Glu)
c.31C>G (p.Gln11Glu)
c.152C>G (p.Pro51Arg)
c.687-7977C>G (n.687-7977C>G)
c.1354C>G (p.Gln452Glu)
n.2591C>G
n.995-2480C>G
 ClinVar dbSNP gnomAD v4
9g.133436886C>TCA375391651ADAMTS13c.1366C>T (p.Gln456Ter)
c.1273C>T (p.Gln425Ter)
c.622C>T (p.Gln208Ter)
c.*170C>T (n.*170C>T)
n.974-2480C>T
c.*650C>T (n.*650C>T)
n.993-2480C>T
c.976C>T (p.Gln326Ter)
c.382C>T (p.Gln128Ter)
c.376C>T (p.Gln126Ter)
c.31C>T (p.Gln11Ter)
c.152C>T (p.Pro51Leu)
c.687-7977C>T (n.687-7977C>T)
c.1354C>T (p.Gln452Ter)
n.2591C>T
n.995-2480C>T
 gnomAD v4
9g.133436887A>CCA375391653ADAMTS13c.1367A>C (p.Gln456Pro)
c.1274A>C (p.Gln425Pro)
c.623A>C (p.Gln208Pro)
c.*171A>C (n.*171A>C)
n.974-2479A>C
c.*651A>C (n.*651A>C)
n.993-2479A>C
c.977A>C (p.Gln326Pro)
c.383A>C (p.Gln128Pro)
c.377A>C (p.Gln126Pro)
c.32A>C (p.Gln11Pro)
c.153A>C (p.Pro51=)
c.687-7976A>C (n.687-7976A>C)
c.1355A>C (p.Gln452Pro)
n.2592A>C
n.995-2479A>C
9g.133436887A>GCA375391656ADAMTS13c.1367A>G (p.Gln456Arg)
c.1274A>G (p.Gln425Arg)
c.623A>G (p.Gln208Arg)
c.*171A>G (n.*171A>G)
n.974-2479A>G
c.*651A>G (n.*651A>G)
n.993-2479A>G
c.977A>G (p.Gln326Arg)
c.383A>G (p.Gln128Arg)
c.377A>G (p.Gln126Arg)
c.32A>G (p.Gln11Arg)
c.153A>G (p.Pro51=)
c.687-7976A>G (n.687-7976A>G)
c.1355A>G (p.Gln452Arg)
n.2592A>G
n.995-2479A>G
 gnomAD v4
9g.133436887A>TCA375391654ADAMTS13c.1367A>T (p.Gln456Leu)
c.1274A>T (p.Gln425Leu)
c.623A>T (p.Gln208Leu)
c.*171A>T (n.*171A>T)
n.974-2479A>T
c.*651A>T (n.*651A>T)
n.993-2479A>T
c.977A>T (p.Gln326Leu)
c.383A>T (p.Gln128Leu)
c.377A>T (p.Gln126Leu)
c.32A>T (p.Gln11Leu)
c.153A>T (p.Pro51=)
c.687-7976A>T (n.687-7976A>T)
c.1355A>T (p.Gln452Leu)
n.2592A>T
n.995-2479A>T
9g.133436888G>ACA2692371238ADAMTS13c.1368G>A (p.Gln456=)
c.1275G>A (p.Gln425=)
c.624G>A (p.Gln208=)
c.*172G>A (n.*172G>A)
n.974-2478G>A
c.*652G>A (n.*652G>A)
n.993-2478G>A
c.978G>A (p.Gln326=)
c.384G>A (p.Gln128=)
c.378G>A (p.Gln126=)
c.33G>A (p.Gln11=)
c.154G>A (p.Ala52Thr)
c.687-7975G>A (n.687-7975G>A)
c.1356G>A (p.Gln452=)
n.2593G>A
n.995-2478G>A
 gnomAD v4
9g.133436888G>CCA375391658ADAMTS13c.1368G>C (p.Gln456His)
c.1275G>C (p.Gln425His)
c.624G>C (p.Gln208His)
c.*172G>C (n.*172G>C)
n.974-2478G>C
c.*652G>C (n.*652G>C)
n.993-2478G>C
c.978G>C (p.Gln326His)
c.384G>C (p.Gln128His)
c.378G>C (p.Gln126His)
c.33G>C (p.Gln11His)
c.154G>C (p.Ala52Pro)
c.687-7975G>C (n.687-7975G>C)
c.1356G>C (p.Gln452His)
n.2593G>C
n.995-2478G>C
9g.133436888G=CA1882673140ADAMTS13c.1368G= (p.Gln456=)
c.1275G= (p.Gln425=)
c.624G= (p.Gln208=)
c.*172G= (n.*172G=)
n.974-2478G=
c.*652G= (n.*652G=)
n.993-2478G=
c.978G= (p.Gln326=)
c.384G= (p.Gln128=)
c.378G= (p.Gln126=)
c.33G= (p.Gln11=)
c.154G= (p.Ala52=)
c.687-7975G= (n.687-7975G=)
c.1356G= (p.Gln452=)
n.2593G=
n.995-2478G=
9g.133436888G>TCA10587032ADAMTS13c.1368G>T (p.Gln456His)
c.1275G>T (p.Gln425His)
c.624G>T (p.Gln208His)
c.*172G>T (n.*172G>T)
n.974-2478G>T
c.*652G>T (n.*652G>T)
n.993-2478G>T
c.978G>T (p.Gln326His)
c.384G>T (p.Gln128His)
c.378G>T (p.Gln126His)
c.33G>T (p.Gln11His)
c.154G>T (p.Ala52Ser)
c.687-7975G>T (n.687-7975G>T)
c.1356G>T (p.Gln452His)
n.2593G>T
n.995-2478G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436889C>ACA375391661ADAMTS13c.1369C>A (p.Pro457Thr)
c.1276C>A (p.Pro426Thr)
c.625C>A (p.Pro209Thr)
c.*173C>A (n.*173C>A)
n.974-2477C>A
c.*653C>A (n.*653C>A)
n.993-2477C>A
c.979C>A (p.Pro327Thr)
c.385C>A (p.Pro129Thr)
c.379C>A (p.Pro127Thr)
c.34C>A (p.Pro12Thr)
c.155C>A (p.Ala52Asp)
c.687-7974C>A (n.687-7974C>A)
c.1357C>A (p.Pro453Thr)
n.2594C>A
n.995-2477C>A
 gnomAD v4
9g.133436889C>GCA375391665ADAMTS13c.1369C>G (p.Pro457Ala)
c.1276C>G (p.Pro426Ala)
c.625C>G (p.Pro209Ala)
c.*173C>G (n.*173C>G)
n.974-2477C>G
c.*653C>G (n.*653C>G)
n.993-2477C>G
c.979C>G (p.Pro327Ala)
c.385C>G (p.Pro129Ala)
c.379C>G (p.Pro127Ala)
c.34C>G (p.Pro12Ala)
c.155C>G (p.Ala52Gly)
c.687-7974C>G (n.687-7974C>G)
c.1357C>G (p.Pro453Ala)
n.2594C>G
n.995-2477C>G
 gnomAD v4
9g.133436889C>TCA375391663ADAMTS13c.1369C>T (p.Pro457Ser)
c.1276C>T (p.Pro426Ser)
c.625C>T (p.Pro209Ser)
c.*173C>T (n.*173C>T)
n.974-2477C>T
c.*653C>T (n.*653C>T)
n.993-2477C>T
c.979C>T (p.Pro327Ser)
c.385C>T (p.Pro129Ser)
c.379C>T (p.Pro127Ser)
c.34C>T (p.Pro12Ser)
c.155C>T (p.Ala52Val)
c.687-7974C>T (n.687-7974C>T)
c.1357C>T (p.Pro453Ser)
n.2594C>T
n.995-2477C>T
 gnomAD v4
9g.133436890C>ACA375391668ADAMTS13c.1370C>A (p.Pro457Gln)
c.1277C>A (p.Pro426Gln)
c.626C>A (p.Pro209Gln)
c.*174C>A (n.*174C>A)
n.974-2476C>A
c.*654C>A (n.*654C>A)
n.993-2476C>A
c.980C>A (p.Pro327Gln)
c.386C>A (p.Pro129Gln)
c.380C>A (p.Pro127Gln)
c.35C>A (p.Pro12Gln)
c.156C>A (p.Ala52=)
c.687-7973C>A (n.687-7973C>A)
c.1358C>A (p.Pro453Gln)
n.2595C>A
n.995-2476C>A
 gnomAD v4
9g.133436890C=CA1882673141ADAMTS13c.1370C= (p.Pro457=)
c.1277C= (p.Pro426=)
c.626C= (p.Pro209=)
c.*174C= (n.*174C=)
n.974-2476C=
c.*654C= (n.*654C=)
n.993-2476C=
c.980C= (p.Pro327=)
c.386C= (p.Pro129=)
c.380C= (p.Pro127=)
c.35C= (p.Pro12=)
c.156C= (p.Ala52=)
c.687-7973C= (n.687-7973C=)
c.1358C= (p.Pro453=)
n.2595C=
n.995-2476C=
9g.133436890C>GCA375391670ADAMTS13c.1370C>G (p.Pro457Arg)
c.1277C>G (p.Pro426Arg)
c.626C>G (p.Pro209Arg)
c.*174C>G (n.*174C>G)
n.974-2476C>G
c.*654C>G (n.*654C>G)
n.993-2476C>G
c.980C>G (p.Pro327Arg)
c.386C>G (p.Pro129Arg)
c.380C>G (p.Pro127Arg)
c.35C>G (p.Pro12Arg)
c.156C>G (p.Ala52=)
c.687-7973C>G (n.687-7973C>G)
c.1358C>G (p.Pro453Arg)
n.2595C>G
n.995-2476C>G
 gnomAD v4
9g.133436890C>TCA10626723ADAMTS13c.1370C>T (p.Pro457Leu)
c.1277C>T (p.Pro426Leu)
c.626C>T (p.Pro209Leu)
c.*174C>T (n.*174C>T)
n.974-2476C>T
c.*654C>T (n.*654C>T)
n.993-2476C>T
c.980C>T (p.Pro327Leu)
c.386C>T (p.Pro129Leu)
c.380C>T (p.Pro127Leu)
c.35C>T (p.Pro12Leu)
c.156C>T (p.Ala52=)
c.687-7973C>T (n.687-7973C>T)
c.1358C>T (p.Pro453Leu)
n.2595C>T
n.995-2476C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436891G>ACA200929655ADAMTS13c.1371G>A (p.Pro457=)
c.1278G>A (p.Pro426=)
c.627G>A (p.Pro209=)
c.*175G>A (n.*175G>A)
n.974-2475G>A
c.*655G>A (n.*655G>A)
n.993-2475G>A
c.981G>A (p.Pro327=)
c.387G>A (p.Pro129=)
c.381G>A (p.Pro127=)
c.36G>A (p.Pro12=)
c.157G>A (p.Ala53Thr)
c.687-7972G>A (n.687-7972G>A)
c.1359G>A (p.Pro453=)
n.2596G>A
n.995-2475G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436891G=CA1882673142ADAMTS13c.1371G= (p.Pro457=)
c.1278G= (p.Pro426=)
c.627G= (p.Pro209=)
c.*175G= (n.*175G=)
n.974-2475G=
c.*655G= (n.*655G=)
n.993-2475G=
c.981G= (p.Pro327=)
c.387G= (p.Pro129=)
c.381G= (p.Pro127=)
c.36G= (p.Pro12=)
c.157G= (p.Ala53=)
c.687-7972G= (n.687-7972G=)
c.1359G= (p.Pro453=)
n.2596G=
n.995-2475G=
9g.133436891G>TCA2692371269ADAMTS13c.1371G>T (p.Pro457=)
c.1278G>T (p.Pro426=)
c.627G>T (p.Pro209=)
c.*175G>T (n.*175G>T)
n.974-2475G>T
c.*655G>T (n.*655G>T)
n.993-2475G>T
c.981G>T (p.Pro327=)
c.387G>T (p.Pro129=)
c.381G>T (p.Pro127=)
c.36G>T (p.Pro12=)
c.157G>T (p.Ala53Ser)
c.687-7972G>T (n.687-7972G>T)
c.1359G>T (p.Pro453=)
n.2596G>T
n.995-2475G>T
 gnomAD v4
9g.133436892C>ACA375391675ADAMTS13c.1372C>A (p.Leu458Met)
c.1279C>A (p.Leu427Met)
c.628C>A (p.Leu210Met)
c.*176C>A (n.*176C>A)
n.974-2474C>A
c.*656C>A (n.*656C>A)
n.993-2474C>A
c.982C>A (p.Leu328Met)
c.388C>A (p.Leu130Met)
c.382C>A (p.Leu128Met)
c.37C>A (p.Leu13Met)
c.158C>A (p.Ala53Asp)
c.687-7971C>A (n.687-7971C>A)
c.1360C>A (p.Leu454Met)
n.2597C>A
n.995-2474C>A
 dbSNP gnomAD v4
9g.133436892C=CA1882673143ADAMTS13c.1372C= (p.Leu458=)
c.1279C= (p.Leu427=)
c.628C= (p.Leu210=)
c.*176C= (n.*176C=)
n.974-2474C=
c.*656C= (n.*656C=)
n.993-2474C=
c.982C= (p.Leu328=)
c.388C= (p.Leu130=)
c.382C= (p.Leu128=)
c.37C= (p.Leu13=)
c.158C= (p.Ala53=)
c.687-7971C= (n.687-7971C=)
c.1360C= (p.Leu454=)
n.2597C=
n.995-2474C=
9g.133436892C>GCA375391673ADAMTS13c.1372C>G (p.Leu458Val)
c.1279C>G (p.Leu427Val)
c.628C>G (p.Leu210Val)
c.*176C>G (n.*176C>G)
n.974-2474C>G
c.*656C>G (n.*656C>G)
n.993-2474C>G
c.982C>G (p.Leu328Val)
c.388C>G (p.Leu130Val)
c.382C>G (p.Leu128Val)
c.37C>G (p.Leu13Val)
c.158C>G (p.Ala53Gly)
c.687-7971C>G (n.687-7971C>G)
c.1360C>G (p.Leu454Val)
n.2597C>G
n.995-2474C>G
 gnomAD v4
9g.133436892C>TCA2692371277ADAMTS13c.1372C>T (p.Leu458=)
c.1279C>T (p.Leu427=)
c.628C>T (p.Leu210=)
c.*176C>T (n.*176C>T)
n.974-2474C>T
c.*656C>T (n.*656C>T)
n.993-2474C>T
c.982C>T (p.Leu328=)
c.388C>T (p.Leu130=)
c.382C>T (p.Leu128=)
c.37C>T (p.Leu13=)
c.158C>T (p.Ala53Val)
c.687-7971C>T (n.687-7971C>T)
c.1360C>T (p.Leu454=)
n.2597C>T
n.995-2474C>T
 gnomAD v4
9g.133436893T>ACA375391678ADAMTS13c.1373T>A (p.Leu458Gln)
c.1280T>A (p.Leu427Gln)
c.629T>A (p.Leu210Gln)
c.*177T>A (n.*177T>A)
n.974-2473T>A
c.*657T>A (n.*657T>A)
n.993-2473T>A
c.983T>A (p.Leu328Gln)
c.389T>A (p.Leu130Gln)
c.383T>A (p.Leu128Gln)
c.38T>A (p.Leu13Gln)
c.159T>A (p.Ala53=)
c.687-7970T>A (n.687-7970T>A)
c.1361T>A (p.Leu454Gln)
n.2598T>A
n.995-2473T>A
 gnomAD v4
9g.133436893T>CCA375391677ADAMTS13c.1373T>C (p.Leu458Pro)
c.1280T>C (p.Leu427Pro)
c.629T>C (p.Leu210Pro)
c.*177T>C (n.*177T>C)
n.974-2473T>C
c.*657T>C (n.*657T>C)
n.993-2473T>C
c.983T>C (p.Leu328Pro)
c.389T>C (p.Leu130Pro)
c.383T>C (p.Leu128Pro)
c.38T>C (p.Leu13Pro)
c.159T>C (p.Ala53=)
c.687-7970T>C (n.687-7970T>C)
c.1361T>C (p.Leu454Pro)
n.2598T>C
n.995-2473T>C
 gnomAD v4
9g.133436893T>GCA375391680ADAMTS13c.1373T>G (p.Leu458Arg)
c.1280T>G (p.Leu427Arg)
c.629T>G (p.Leu210Arg)
c.*177T>G (n.*177T>G)
n.974-2473T>G
c.*657T>G (n.*657T>G)
n.993-2473T>G
c.983T>G (p.Leu328Arg)
c.389T>G (p.Leu130Arg)
c.383T>G (p.Leu128Arg)
c.38T>G (p.Leu13Arg)
c.159T>G (p.Ala53=)
c.687-7970T>G (n.687-7970T>G)
c.1361T>G (p.Leu454Arg)
n.2598T>G
n.995-2473T>G
 gnomAD v4
9g.133436894G>ACA2692371282ADAMTS13c.1374G>A (p.Leu458=)
c.1281G>A (p.Leu427=)
c.630G>A (p.Leu210=)
c.*178G>A (n.*178G>A)
n.974-2472G>A
c.*658G>A (n.*658G>A)
n.993-2472G>A
c.984G>A (p.Leu328=)
c.390G>A (p.Leu130=)
c.384G>A (p.Leu128=)
c.39G>A (p.Leu13=)
c.160G>A (p.Ala54Thr)
c.687-7969G>A (n.687-7969G>A)
c.1362G>A (p.Leu454=)
n.2599G>A
n.995-2472G>A
 gnomAD v4
9g.133436895C>ACA375391683ADAMTS13c.1375C>A (p.Arg459Ser)
c.1282C>A (p.Arg428Ser)
c.631C>A (p.Arg211Ser)
c.*179C>A (n.*179C>A)
n.974-2471C>A
c.*659C>A (n.*659C>A)
n.993-2471C>A
c.985C>A (p.Arg329Ser)
c.391C>A (p.Arg131Ser)
c.385C>A (p.Arg129Ser)
c.40C>A (p.Arg14Ser)
c.161C>A (p.Ala54Glu)
c.687-7968C>A (n.687-7968C>A)
c.1363C>A (p.Arg455Ser)
n.2600C>A
n.995-2471C>A
 gnomAD v4
9g.133436895C=CA1882673144ADAMTS13c.1375C= (p.Arg459=)
c.1282C= (p.Arg428=)
c.631C= (p.Arg211=)
c.*179C= (n.*179C=)
n.974-2471C=
c.*659C= (n.*659C=)
n.993-2471C=
c.985C= (p.Arg329=)
c.391C= (p.Arg131=)
c.385C= (p.Arg129=)
c.40C= (p.Arg14=)
c.161C= (p.Ala54=)
c.687-7968C= (n.687-7968C=)
c.1363C= (p.Arg455=)
n.2600C=
n.995-2471C=
9g.133436895C>GCA200929658ADAMTS13c.1375C>G (p.Arg459Gly)
c.1282C>G (p.Arg428Gly)
c.631C>G (p.Arg211Gly)
c.*179C>G (n.*179C>G)
n.974-2471C>G
c.*659C>G (n.*659C>G)
n.993-2471C>G
c.985C>G (p.Arg329Gly)
c.391C>G (p.Arg131Gly)
c.385C>G (p.Arg129Gly)
c.40C>G (p.Arg14Gly)
c.161C>G (p.Ala54Gly)
c.687-7968C>G (n.687-7968C>G)
c.1363C>G (p.Arg455Gly)
n.2600C>G
n.995-2471C>G
 dbSNP gnomAD v3 gnomAD v4
9g.133436895C>TCA375391684ADAMTS13c.1375C>T (p.Arg459Cys)
c.1282C>T (p.Arg428Cys)
c.631C>T (p.Arg211Cys)
c.*179C>T (n.*179C>T)
n.974-2471C>T
c.*659C>T (n.*659C>T)
n.993-2471C>T
c.985C>T (p.Arg329Cys)
c.391C>T (p.Arg131Cys)
c.385C>T (p.Arg129Cys)
c.40C>T (p.Arg14Cys)
c.161C>T (p.Ala54Val)
c.687-7968C>T (n.687-7968C>T)
c.1363C>T (p.Arg455Cys)
n.2600C>T
n.995-2471C>T
 dbSNP gnomAD v4
9g.133436896G>ACA200929663ADAMTS13c.1376G>A (p.Arg459His)
c.1283G>A (p.Arg428His)
c.632G>A (p.Arg211His)
c.*180G>A (n.*180G>A)
n.974-2470G>A
c.*660G>A (n.*660G>A)
n.993-2470G>A
c.986G>A (p.Arg329His)
c.392G>A (p.Arg131His)
c.386G>A (p.Arg129His)
c.41G>A (p.Arg14His)
c.162G>A (p.Ala54=)
c.687-7967G>A (n.687-7967G>A)
c.1364G>A (p.Arg455His)
n.2601G>A
n.995-2470G>A
 dbSNP gnomAD v3 gnomAD v4
9g.133436896G>CCA375391687ADAMTS13c.1376G>C (p.Arg459Pro)
c.1283G>C (p.Arg428Pro)
c.632G>C (p.Arg211Pro)
c.*180G>C (n.*180G>C)
n.974-2470G>C
c.*660G>C (n.*660G>C)
n.993-2470G>C
c.986G>C (p.Arg329Pro)
c.392G>C (p.Arg131Pro)
c.386G>C (p.Arg129Pro)
c.41G>C (p.Arg14Pro)
c.162G>C (p.Ala54=)
c.687-7967G>C (n.687-7967G>C)
c.1364G>C (p.Arg455Pro)
n.2601G>C
n.995-2470G>C
 dbSNP gnomAD v4
9g.133436896G=CA1882673145ADAMTS13c.1376G= (p.Arg459=)
c.1283G= (p.Arg428=)
c.632G= (p.Arg211=)
c.*180G= (n.*180G=)
n.974-2470G=
c.*660G= (n.*660G=)
n.993-2470G=
c.986G= (p.Arg329=)
c.392G= (p.Arg131=)
c.386G= (p.Arg129=)
c.41G= (p.Arg14=)
c.162G= (p.Ala54=)
c.687-7967G= (n.687-7967G=)
c.1364G= (p.Arg455=)
n.2601G=
n.995-2470G=
9g.133436896G>TCA200929664ADAMTS13c.1376G>T (p.Arg459Leu)
c.1283G>T (p.Arg428Leu)
c.632G>T (p.Arg211Leu)
c.*180G>T (n.*180G>T)
n.974-2470G>T
c.*660G>T (n.*660G>T)
n.993-2470G>T
c.986G>T (p.Arg329Leu)
c.392G>T (p.Arg131Leu)
c.386G>T (p.Arg129Leu)
c.41G>T (p.Arg14Leu)
c.162G>T (p.Ala54=)
c.687-7967G>T (n.687-7967G>T)
c.1364G>T (p.Arg455Leu)
n.2601G>T
n.995-2470G>T
 dbSNP gnomAD v3 gnomAD v4
9g.133436897C>ACA2692371295ADAMTS13c.1377C>A (p.Arg459=)
c.1284C>A (p.Arg428=)
c.633C>A (p.Arg211=)
c.*181C>A (n.*181C>A)
n.974-2469C>A
c.*661C>A (n.*661C>A)
n.993-2469C>A
c.987C>A (p.Arg329=)
c.393C>A (p.Arg131=)
c.387C>A (p.Arg129=)
c.42C>A (p.Arg14=)
c.163C>A (p.Leu55Ile)
c.687-7966C>A (n.687-7966C>A)
c.1365C>A (p.Arg455=)
n.2602C>A
n.995-2469C>A
 gnomAD v4
9g.133436897C=CA1882673146ADAMTS13c.1377C= (p.Arg459=)
c.1284C= (p.Arg428=)
c.633C= (p.Arg211=)
c.*181C= (n.*181C=)
n.974-2469C=
c.*661C= (n.*661C=)
n.993-2469C=
c.987C= (p.Arg329=)
c.393C= (p.Arg131=)
c.387C= (p.Arg129=)
c.42C= (p.Arg14=)
c.163C= (p.Leu55=)
c.687-7966C= (n.687-7966C=)
c.1365C= (p.Arg455=)
n.2602C=
n.995-2469C=
9g.133436897C>TCA645564042ADAMTS13c.1377C>T (p.Arg459=)
c.1284C>T (p.Arg428=)
c.633C>T (p.Arg211=)
c.*181C>T (n.*181C>T)
n.974-2469C>T
c.*661C>T (n.*661C>T)
n.993-2469C>T
c.987C>T (p.Arg329=)
c.393C>T (p.Arg131=)
c.387C>T (p.Arg129=)
c.42C>T (p.Arg14=)
c.163C>T (p.Leu55Phe)
c.687-7966C>T (n.687-7966C>T)
c.1365C>T (p.Arg455=)
n.2602C>T
n.995-2469C>T
 dbSNP gnomAD v4 COSMIC
9g.133436897_133436906delCA2573050852ADAMTS13c.1377_1386del (p.Ser460AlafsTer?)
c.1284_1293del (p.Ser429AlafsTer?)
c.633_642del (p.Ser212AlafsTer?)
c.*181_*190del (n.*181_*190del)
n.974-2469_974-2460del
c.*661_*670del (n.*661_*670del)
n.993-2469_993-2460del
c.987_996del (p.Ser330AlafsTer?)
c.393_402del (p.Ser132AlafsTer?)
c.387_396del (p.Ser130AlafsTer?)
c.42_51del (p.Ser15AlafsTer?)
c.163_172del (p.Leu55GlyfsTer?)
c.687-7966_687-7957del (n.687-7966_687-7957del)
c.1365_1374del (p.Ser456AlafsTer?)
n.2602_2611del
n.995-2469_995-2460del
 gnomAD v4
9g.133436898T>ACA375391689ADAMTS13c.1378T>A (p.Ser460Thr)
c.1285T>A (p.Ser429Thr)
c.634T>A (p.Ser212Thr)
c.*182T>A (n.*182T>A)
n.974-2468T>A
c.*662T>A (n.*662T>A)
n.993-2468T>A
c.988T>A (p.Ser330Thr)
c.394T>A (p.Ser132Thr)
c.388T>A (p.Ser130Thr)
c.43T>A (p.Ser15Thr)
c.164T>A (p.Leu55His)
c.687-7965T>A (n.687-7965T>A)
c.1366T>A (p.Ser456Thr)
n.2603T>A
n.995-2468T>A
9g.133436898T>CCA375391691ADAMTS13c.1378T>C (p.Ser460Pro)
c.1285T>C (p.Ser429Pro)
c.634T>C (p.Ser212Pro)
c.*182T>C (n.*182T>C)
n.974-2468T>C
c.*662T>C (n.*662T>C)
n.993-2468T>C
c.988T>C (p.Ser330Pro)
c.394T>C (p.Ser132Pro)
c.388T>C (p.Ser130Pro)
c.43T>C (p.Ser15Pro)
c.164T>C (p.Leu55Pro)
c.687-7965T>C (n.687-7965T>C)
c.1366T>C (p.Ser456Pro)
n.2603T>C
n.995-2468T>C
9g.133436898T>GCA375391692ADAMTS13c.1378T>G (p.Ser460Ala)
c.1285T>G (p.Ser429Ala)
c.634T>G (p.Ser212Ala)
c.*182T>G (n.*182T>G)
n.974-2468T>G
c.*662T>G (n.*662T>G)
n.993-2468T>G
c.988T>G (p.Ser330Ala)
c.394T>G (p.Ser132Ala)
c.388T>G (p.Ser130Ala)
c.43T>G (p.Ser15Ala)
c.164T>G (p.Leu55Arg)
c.687-7965T>G (n.687-7965T>G)
c.1366T>G (p.Ser456Ala)
n.2603T>G
n.995-2468T>G
 gnomAD v4
9g.133436899C>ACA375391695ADAMTS13c.1379C>A (p.Ser460Tyr)
c.1286C>A (p.Ser429Tyr)
c.635C>A (p.Ser212Tyr)
c.*183C>A (n.*183C>A)
n.974-2467C>A
c.*663C>A (n.*663C>A)
n.993-2467C>A
c.989C>A (p.Ser330Tyr)
c.395C>A (p.Ser132Tyr)
c.389C>A (p.Ser130Tyr)
c.44C>A (p.Ser15Tyr)
c.165C>A (p.Leu55=)
c.687-7964C>A (n.687-7964C>A)
c.1367C>A (p.Ser456Tyr)
n.2604C>A
n.995-2467C>A
 gnomAD v4
9g.133436899C=CA1882673147ADAMTS13c.1379C= (p.Ser460=)
c.1286C= (p.Ser429=)
c.635C= (p.Ser212=)
c.*183C= (n.*183C=)
n.974-2467C=
c.*663C= (n.*663C=)
n.993-2467C=
c.989C= (p.Ser330=)
c.395C= (p.Ser132=)
c.389C= (p.Ser130=)
c.44C= (p.Ser15=)
c.165C= (p.Leu55=)
c.687-7964C= (n.687-7964C=)
c.1367C= (p.Ser456=)
n.2604C=
n.995-2467C=
9g.133436899C>GCA375391697ADAMTS13c.1379C>G (p.Ser460Cys)
c.1286C>G (p.Ser429Cys)
c.635C>G (p.Ser212Cys)
c.*183C>G (n.*183C>G)
n.974-2467C>G
c.*663C>G (n.*663C>G)
n.993-2467C>G
c.989C>G (p.Ser330Cys)
c.395C>G (p.Ser132Cys)
c.389C>G (p.Ser130Cys)
c.44C>G (p.Ser15Cys)
c.165C>G (p.Leu55=)
c.687-7964C>G (n.687-7964C>G)
c.1367C>G (p.Ser456Cys)
n.2604C>G
n.995-2467C>G
 gnomAD v4
9g.133436899C>TCA375391699ADAMTS13c.1379C>T (p.Ser460Phe)
c.1286C>T (p.Ser429Phe)
c.635C>T (p.Ser212Phe)
c.*183C>T (n.*183C>T)
n.974-2467C>T
c.*663C>T (n.*663C>T)
n.993-2467C>T
c.989C>T (p.Ser330Phe)
c.395C>T (p.Ser132Phe)
c.389C>T (p.Ser130Phe)
c.44C>T (p.Ser15Phe)
c.165C>T (p.Leu55=)
c.687-7964C>T (n.687-7964C>T)
c.1367C>T (p.Ser456Phe)
n.2604C>T
n.995-2467C>T
 dbSNP gnomAD v4
9g.133436900C>ACA2692371310ADAMTS13c.1380C>A (p.Ser460=)
c.1287C>A (p.Ser429=)
c.636C>A (p.Ser212=)
c.*184C>A (n.*184C>A)
n.974-2466C>A
c.*664C>A (n.*664C>A)
n.993-2466C>A
c.990C>A (p.Ser330=)
c.396C>A (p.Ser132=)
c.390C>A (p.Ser130=)
c.45C>A (p.Ser15=)
c.166C>A (p.Leu56Ile)
c.687-7963C>A (n.687-7963C>A)
c.1368C>A (p.Ser456=)
n.2605C>A
n.995-2466C>A
 gnomAD v4
9g.133436900C>GCA2692371311ADAMTS13c.1380C>G (p.Ser460=)
c.1287C>G (p.Ser429=)
c.636C>G (p.Ser212=)
c.*184C>G (n.*184C>G)
n.974-2466C>G
c.*664C>G (n.*664C>G)
n.993-2466C>G
c.990C>G (p.Ser330=)
c.396C>G (p.Ser132=)
c.390C>G (p.Ser130=)
c.45C>G (p.Ser15=)
c.166C>G (p.Leu56Val)
c.687-7963C>G (n.687-7963C>G)
c.1368C>G (p.Ser456=)
n.2605C>G
n.995-2466C>G
 gnomAD v4
9g.133436901T>ACA375391701ADAMTS13c.1381T>A (p.Ser461Thr)
c.1288T>A (p.Ser430Thr)
c.637T>A (p.Ser213Thr)
c.*185T>A (n.*185T>A)
n.974-2465T>A
c.*665T>A (n.*665T>A)
n.993-2465T>A
c.991T>A (p.Ser331Thr)
c.397T>A (p.Ser133Thr)
c.391T>A (p.Ser131Thr)
c.46T>A (p.Ser16Thr)
c.167T>A (p.Leu56His)
c.687-7962T>A (n.687-7962T>A)
c.1369T>A (p.Ser457Thr)
n.2606T>A
n.995-2465T>A
9g.133436901T>CCA375391705ADAMTS13c.1381T>C (p.Ser461Pro)
c.1288T>C (p.Ser430Pro)
c.637T>C (p.Ser213Pro)
c.*185T>C (n.*185T>C)
n.974-2465T>C
c.*665T>C (n.*665T>C)
n.993-2465T>C
c.991T>C (p.Ser331Pro)
c.397T>C (p.Ser133Pro)
c.391T>C (p.Ser131Pro)
c.46T>C (p.Ser16Pro)
c.167T>C (p.Leu56Pro)
c.687-7962T>C (n.687-7962T>C)
c.1369T>C (p.Ser457Pro)
n.2606T>C
n.995-2465T>C
 gnomAD v4
9g.133436901T>GCA375391702ADAMTS13c.1381T>G (p.Ser461Ala)
c.1288T>G (p.Ser430Ala)
c.637T>G (p.Ser213Ala)
c.*185T>G (n.*185T>G)
n.974-2465T>G
c.*665T>G (n.*665T>G)
n.993-2465T>G
c.991T>G (p.Ser331Ala)
c.397T>G (p.Ser133Ala)
c.391T>G (p.Ser131Ala)
c.46T>G (p.Ser16Ala)
c.167T>G (p.Leu56Arg)
c.687-7962T>G (n.687-7962T>G)
c.1369T>G (p.Ser457Ala)
n.2606T>G
n.995-2465T>G
 gnomAD v4
9g.133436902C>ACA375391707ADAMTS13c.1382C>A (p.Ser461Tyr)
c.1289C>A (p.Ser430Tyr)
c.638C>A (p.Ser213Tyr)
c.*186C>A (n.*186C>A)
n.974-2464C>A
c.*666C>A (n.*666C>A)
n.993-2464C>A
c.992C>A (p.Ser331Tyr)
c.398C>A (p.Ser133Tyr)
c.392C>A (p.Ser131Tyr)
c.47C>A (p.Ser16Tyr)
c.168C>A (p.Leu56=)
c.687-7961C>A (n.687-7961C>A)
c.1370C>A (p.Ser457Tyr)
n.2607C>A
n.995-2464C>A
 gnomAD v4
9g.133436902C=CA1882673148ADAMTS13c.1382C= (p.Ser461=)
c.1289C= (p.Ser430=)
c.638C= (p.Ser213=)
c.*186C= (n.*186C=)
n.974-2464C=
c.*666C= (n.*666C=)
n.993-2464C=
c.992C= (p.Ser331=)
c.398C= (p.Ser133=)
c.392C= (p.Ser131=)
c.47C= (p.Ser16=)
c.168C= (p.Leu56=)
c.687-7961C= (n.687-7961C=)
c.1370C= (p.Ser457=)
n.2607C=
n.995-2464C=
9g.133436902C>GCA375391708ADAMTS13c.1382C>G (p.Ser461Cys)
c.1289C>G (p.Ser430Cys)
c.638C>G (p.Ser213Cys)
c.*186C>G (n.*186C>G)
n.974-2464C>G
c.*666C>G (n.*666C>G)
n.993-2464C>G
c.992C>G (p.Ser331Cys)
c.398C>G (p.Ser133Cys)
c.392C>G (p.Ser131Cys)
c.47C>G (p.Ser16Cys)
c.168C>G (p.Leu56=)
c.687-7961C>G (n.687-7961C>G)
c.1370C>G (p.Ser457Cys)
n.2607C>G
n.995-2464C>G
9g.133436902C>TCA375391710ADAMTS13c.1382C>T (p.Ser461Phe)
c.1289C>T (p.Ser430Phe)
c.638C>T (p.Ser213Phe)
c.*186C>T (n.*186C>T)
n.974-2464C>T
c.*666C>T (n.*666C>T)
n.993-2464C>T
c.992C>T (p.Ser331Phe)
c.398C>T (p.Ser133Phe)
c.392C>T (p.Ser131Phe)
c.47C>T (p.Ser16Phe)
c.168C>T (p.Leu56=)
c.687-7961C>T (n.687-7961C>T)
c.1370C>T (p.Ser457Phe)
n.2607C>T
n.995-2464C>T
 dbSNP gnomAD v4
9g.133436905delCA2692371316ADAMTS13c.1385del (p.Pro462LeufsTer?)
c.1292del (p.Pro431LeufsTer?)
c.641del (p.Pro214LeufsTer?)
c.*189del (n.*189del)
n.974-2461del
c.*669del (n.*669del)
n.993-2461del
c.995del (p.Pro332LeufsTer?)
c.401del (p.Pro134LeufsTer?)
c.395del (p.Pro132LeufsTer?)
c.50del (p.Pro17LeufsTer?)
c.171del (p.Trp58GlyfsTer?)
c.687-7958del (n.687-7958del)
c.1373del (p.Pro458LeufsTer?)
n.2610del
n.995-2461del
 gnomAD v4
9g.133436903C=CA1882673149ADAMTS13c.1383C= (p.Ser461=)
c.1290C= (p.Ser430=)
c.639C= (p.Ser213=)
c.*187C= (n.*187C=)
n.974-2463C=
c.*667C= (n.*667C=)
n.993-2463C=
c.993C= (p.Ser331=)
c.399C= (p.Ser133=)
c.393C= (p.Ser131=)
c.48C= (p.Ser16=)
c.169C= (p.Pro57=)
c.687-7960C= (n.687-7960C=)
c.1371C= (p.Ser457=)
n.2608C=
n.995-2463C=
9g.133436903C>GCA1882673150ADAMTS13c.1383C>G (p.Ser461=)
c.1290C>G (p.Ser430=)
c.639C>G (p.Ser213=)
c.*187C>G (n.*187C>G)
n.974-2463C>G
c.*667C>G (n.*667C>G)
n.993-2463C>G
c.993C>G (p.Ser331=)
c.399C>G (p.Ser133=)
c.393C>G (p.Ser131=)
c.48C>G (p.Ser16=)
c.169C>G (p.Pro57Ala)
c.687-7960C>G (n.687-7960C>G)
c.1371C>G (p.Ser457=)
n.2608C>G
n.995-2463C>G
 dbSNP gnomAD v4
9g.133436903C>TCA2692371317ADAMTS13c.1383C>T (p.Ser461=)
c.1290C>T (p.Ser430=)
c.639C>T (p.Ser213=)
c.*187C>T (n.*187C>T)
n.974-2463C>T
c.*667C>T (n.*667C>T)
n.993-2463C>T
c.993C>T (p.Ser331=)
c.399C>T (p.Ser133=)
c.393C>T (p.Ser131=)
c.48C>T (p.Ser16=)
c.169C>T (p.Pro57Ser)
c.687-7960C>T (n.687-7960C>T)
c.1371C>T (p.Ser457=)
n.2608C>T
n.995-2463C>T
 gnomAD v4
9g.133436904C>ACA375391713ADAMTS13c.1384C>A (p.Pro462Thr)
c.1291C>A (p.Pro431Thr)
c.640C>A (p.Pro214Thr)
c.*188C>A (n.*188C>A)
n.974-2462C>A
c.*668C>A (n.*668C>A)
n.993-2462C>A
c.994C>A (p.Pro332Thr)
c.400C>A (p.Pro134Thr)
c.394C>A (p.Pro132Thr)
c.49C>A (p.Pro17Thr)
c.170C>A (p.Pro57His)
c.687-7959C>A (n.687-7959C>A)
c.1372C>A (p.Pro458Thr)
n.2609C>A
n.995-2462C>A
 gnomAD v4
9g.133436904C>GCA375391715ADAMTS13c.1384C>G (p.Pro462Ala)
c.1291C>G (p.Pro431Ala)
c.640C>G (p.Pro214Ala)
c.*188C>G (n.*188C>G)
n.974-2462C>G
c.*668C>G (n.*668C>G)
n.993-2462C>G
c.994C>G (p.Pro332Ala)
c.400C>G (p.Pro134Ala)
c.394C>G (p.Pro132Ala)
c.49C>G (p.Pro17Ala)
c.170C>G (p.Pro57Arg)
c.687-7959C>G (n.687-7959C>G)
c.1372C>G (p.Pro458Ala)
n.2609C>G
n.995-2462C>G
 gnomAD v4
9g.133436904C>TCA375391716ADAMTS13c.1384C>T (p.Pro462Ser)
c.1291C>T (p.Pro431Ser)
c.640C>T (p.Pro214Ser)
c.*188C>T (n.*188C>T)
n.974-2462C>T
c.*668C>T (n.*668C>T)
n.993-2462C>T
c.994C>T (p.Pro332Ser)
c.400C>T (p.Pro134Ser)
c.394C>T (p.Pro132Ser)
c.49C>T (p.Pro17Ser)
c.170C>T (p.Pro57Leu)
c.687-7959C>T (n.687-7959C>T)
c.1372C>T (p.Pro458Ser)
n.2609C>T
n.995-2462C>T
9g.133436905C>ACA375391719ADAMTS13c.1385C>A (p.Pro462His)
c.1292C>A (p.Pro431His)
c.641C>A (p.Pro214His)
c.*189C>A (n.*189C>A)
n.974-2461C>A
c.*669C>A (n.*669C>A)
n.993-2461C>A
c.995C>A (p.Pro332His)
c.401C>A (p.Pro134His)
c.395C>A (p.Pro132His)
c.50C>A (p.Pro17His)
c.171C>A (p.Pro57=)
c.687-7958C>A (n.687-7958C>A)
c.1373C>A (p.Pro458His)
n.2610C>A
n.995-2461C>A
 gnomAD v4
9g.133436905C=CA1882673151ADAMTS13c.1385C= (p.Pro462=)
c.1292C= (p.Pro431=)
c.641C= (p.Pro214=)
c.*189C= (n.*189C=)
n.974-2461C=
c.*669C= (n.*669C=)
n.993-2461C=
c.995C= (p.Pro332=)
c.401C= (p.Pro134=)
c.395C= (p.Pro132=)
c.50C= (p.Pro17=)
c.171C= (p.Pro57=)
c.687-7958C= (n.687-7958C=)
c.1373C= (p.Pro458=)
n.2610C=
n.995-2461C=
9g.133436905C>GCA375391721ADAMTS13c.1385C>G (p.Pro462Arg)
c.1292C>G (p.Pro431Arg)
c.641C>G (p.Pro214Arg)
c.*189C>G (n.*189C>G)
n.974-2461C>G
c.*669C>G (n.*669C>G)
n.993-2461C>G
c.995C>G (p.Pro332Arg)
c.401C>G (p.Pro134Arg)
c.395C>G (p.Pro132Arg)
c.50C>G (p.Pro17Arg)
c.171C>G (p.Pro57=)
c.687-7958C>G (n.687-7958C>G)
c.1373C>G (p.Pro458Arg)
n.2610C>G
n.995-2461C>G
9g.133436905C>TCA200929665ADAMTS13c.1385C>T (p.Pro462Leu)
c.1292C>T (p.Pro431Leu)
c.641C>T (p.Pro214Leu)
c.*189C>T (n.*189C>T)
n.974-2461C>T
c.*669C>T (n.*669C>T)
n.993-2461C>T
c.995C>T (p.Pro332Leu)
c.401C>T (p.Pro134Leu)
c.395C>T (p.Pro132Leu)
c.50C>T (p.Pro17Leu)
c.171C>T (p.Pro57=)
c.687-7958C>T (n.687-7958C>T)
c.1373C>T (p.Pro458Leu)
n.2610C>T
n.995-2461C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436906T>CCA200929670ADAMTS13c.1386T>C (p.Pro462=)
c.1293T>C (p.Pro431=)
c.642T>C (p.Pro214=)
c.*190T>C (n.*190T>C)
n.974-2460T>C
c.*670T>C (n.*670T>C)
n.993-2460T>C
c.996T>C (p.Pro332=)
c.402T>C (p.Pro134=)
c.396T>C (p.Pro132=)
c.51T>C (p.Pro17=)
c.172T>C (p.Trp58Arg)
c.687-7957T>C (n.687-7957T>C)
c.1374T>C (p.Pro458=)
n.2611T>C
n.995-2460T>C
 dbSNP gnomAD v3 gnomAD v4
9g.133436906T=CA1882673152ADAMTS13c.1386T= (p.Pro462=)
c.1293T= (p.Pro431=)
c.642T= (p.Pro214=)
c.*190T= (n.*190T=)
n.974-2460T=
c.*670T= (n.*670T=)
n.993-2460T=
c.996T= (p.Pro332=)
c.402T= (p.Pro134=)
c.396T= (p.Pro132=)
c.51T= (p.Pro17=)
c.172T= (p.Trp58=)
c.687-7957T= (n.687-7957T=)
c.1374T= (p.Pro458=)
n.2611T=
n.995-2460T=
9g.133436907G>ACA375391727ADAMTS13c.1387G>A (p.Gly463Ser)
c.1294G>A (p.Gly432Ser)
c.643G>A (p.Gly215Ser)
c.*191G>A (n.*191G>A)
n.974-2459G>A
c.*671G>A (n.*671G>A)
n.993-2459G>A
c.997G>A (p.Gly333Ser)
c.403G>A (p.Gly135Ser)
c.397G>A (p.Gly133Ser)
c.52G>A (p.Gly18Ser)
c.173G>A (p.Trp58Ter)
c.687-7956G>A (n.687-7956G>A)
c.1375G>A (p.Gly459Ser)
n.2612G>A
n.995-2459G>A
 dbSNP gnomAD v4
9g.133436907G>CCA200929678ADAMTS13c.1387G>C (p.Gly463Arg)
c.1294G>C (p.Gly432Arg)
c.643G>C (p.Gly215Arg)
c.*191G>C (n.*191G>C)
n.974-2459G>C
c.*671G>C (n.*671G>C)
n.993-2459G>C
c.997G>C (p.Gly333Arg)
c.403G>C (p.Gly135Arg)
c.397G>C (p.Gly133Arg)
c.52G>C (p.Gly18Arg)
c.173G>C (p.Trp58Ser)
c.687-7956G>C (n.687-7956G>C)
c.1375G>C (p.Gly459Arg)
n.2612G>C
n.995-2459G>C
 dbSNP gnomAD v4
9g.133436907G=CA1882673153ADAMTS13c.1387G= (p.Gly463=)
c.1294G= (p.Gly432=)
c.643G= (p.Gly215=)
c.*191G= (n.*191G=)
n.974-2459G=
c.*671G= (n.*671G=)
n.993-2459G=
c.997G= (p.Gly333=)
c.403G= (p.Gly135=)
c.397G= (p.Gly133=)
c.52G= (p.Gly18=)
c.173G= (p.Trp58=)
c.687-7956G= (n.687-7956G=)
c.1375G= (p.Gly459=)
n.2612G=
n.995-2459G=
9g.133436907G>TCA375391725ADAMTS13c.1387G>T (p.Gly463Cys)
c.1294G>T (p.Gly432Cys)
c.643G>T (p.Gly215Cys)
c.*191G>T (n.*191G>T)
n.974-2459G>T
c.*671G>T (n.*671G>T)
n.993-2459G>T
c.997G>T (p.Gly333Cys)
c.403G>T (p.Gly135Cys)
c.397G>T (p.Gly133Cys)
c.52G>T (p.Gly18Cys)
c.173G>T (p.Trp58Leu)
c.687-7956G>T (n.687-7956G>T)
c.1375G>T (p.Gly459Cys)
n.2612G>T
n.995-2459G>T
 gnomAD v4
9g.133436908G>ACA200929682ADAMTS13c.1388G>A (p.Gly463Asp)
c.1295G>A (p.Gly432Asp)
c.644G>A (p.Gly215Asp)
c.*192G>A (n.*192G>A)
n.974-2458G>A
c.*672G>A (n.*672G>A)
n.993-2458G>A
c.998G>A (p.Gly333Asp)
c.404G>A (p.Gly135Asp)
c.398G>A (p.Gly133Asp)
c.53G>A (p.Gly18Asp)
c.174G>A (p.Trp58Ter)
c.687-7955G>A (n.687-7955G>A)
c.1376G>A (p.Gly459Asp)
n.2613G>A
n.995-2458G>A
 dbSNP
9g.133436908G>CCA375391732ADAMTS13c.1388G>C (p.Gly463Ala)
c.1295G>C (p.Gly432Ala)
c.644G>C (p.Gly215Ala)
c.*192G>C (n.*192G>C)
n.974-2458G>C
c.*672G>C (n.*672G>C)
n.993-2458G>C
c.998G>C (p.Gly333Ala)
c.404G>C (p.Gly135Ala)
c.398G>C (p.Gly133Ala)
c.53G>C (p.Gly18Ala)
c.174G>C (p.Trp58Cys)
c.687-7955G>C (n.687-7955G>C)
c.1376G>C (p.Gly459Ala)
n.2613G>C
n.995-2458G>C
9g.133436908G=CA1882673154ADAMTS13c.1388G= (p.Gly463=)
c.1295G= (p.Gly432=)
c.644G= (p.Gly215=)
c.*192G= (n.*192G=)
n.974-2458G=
c.*672G= (n.*672G=)
n.993-2458G=
c.998G= (p.Gly333=)
c.404G= (p.Gly135=)
c.398G= (p.Gly133=)
c.53G= (p.Gly18=)
c.174G= (p.Trp58=)
c.687-7955G= (n.687-7955G=)
c.1376G= (p.Gly459=)
n.2613G=
n.995-2458G=
9g.133436908G>TCA375391734ADAMTS13c.1388G>T (p.Gly463Val)
c.1295G>T (p.Gly432Val)
c.644G>T (p.Gly215Val)
c.*192G>T (n.*192G>T)
n.974-2458G>T
c.*672G>T (n.*672G>T)
n.993-2458G>T
c.998G>T (p.Gly333Val)
c.404G>T (p.Gly135Val)
c.398G>T (p.Gly133Val)
c.53G>T (p.Gly18Val)
c.174G>T (p.Trp58Cys)
c.687-7955G>T (n.687-7955G>T)
c.1376G>T (p.Gly459Val)
n.2613G>T
n.995-2458G>T
9g.133436909C>ACA2692371331ADAMTS13c.1389C>A (p.Gly463=)
c.1296C>A (p.Gly432=)
c.645C>A (p.Gly215=)
c.*193C>A (n.*193C>A)
n.974-2457C>A
c.*673C>A (n.*673C>A)
n.993-2457C>A
c.999C>A (p.Gly333=)
c.405C>A (p.Gly135=)
c.399C>A (p.Gly133=)
c.54C>A (p.Gly18=)
c.175C>A (p.Arg59=)
c.687-7954C>A (n.687-7954C>A)
c.1377C>A (p.Gly459=)
n.2614C>A
n.995-2457C>A
 gnomAD v4
9g.133436909C=CA1882673155ADAMTS13c.1389C= (p.Gly463=)
c.1296C= (p.Gly432=)
c.645C= (p.Gly215=)
c.*193C= (n.*193C=)
n.974-2457C=
c.*673C= (n.*673C=)
n.993-2457C=
c.999C= (p.Gly333=)
c.405C= (p.Gly135=)
c.399C= (p.Gly133=)
c.54C= (p.Gly18=)
c.175C= (p.Arg59=)
c.687-7954C= (n.687-7954C=)
c.1377C= (p.Gly459=)
n.2614C=
n.995-2457C=
9g.133436909C>TCA200929688ADAMTS13c.1389C>T (p.Gly463=)
c.1296C>T (p.Gly432=)
c.645C>T (p.Gly215=)
c.*193C>T (n.*193C>T)
n.974-2457C>T
c.*673C>T (n.*673C>T)
n.993-2457C>T
c.999C>T (p.Gly333=)
c.405C>T (p.Gly135=)
c.399C>T (p.Gly133=)
c.54C>T (p.Gly18=)
c.175C>T (p.Arg59Trp)
c.687-7954C>T (n.687-7954C>T)
c.1377C>T (p.Gly459=)
n.2614C>T
n.995-2457C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436910G>ACA200929697ADAMTS13c.1390G>A (p.Gly464Ser)
c.1297G>A (p.Gly433Ser)
c.646G>A (p.Gly216Ser)
c.*194G>A (n.*194G>A)
n.974-2456G>A
c.*674G>A (n.*674G>A)
n.993-2456G>A
c.1000G>A (p.Gly334Ser)
c.406G>A (p.Gly136Ser)
c.400G>A (p.Gly134Ser)
c.55G>A (p.Gly19Ser)
c.176G>A (p.Arg59Gln)
c.687-7953G>A (n.687-7953G>A)
c.1378G>A (p.Gly460Ser)
n.2615G>A
n.995-2456G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436910G>CCA375391738ADAMTS13c.1390G>C (p.Gly464Arg)
c.1297G>C (p.Gly433Arg)
c.646G>C (p.Gly216Arg)
c.*194G>C (n.*194G>C)
n.974-2456G>C
c.*674G>C (n.*674G>C)
n.993-2456G>C
c.1000G>C (p.Gly334Arg)
c.406G>C (p.Gly136Arg)
c.400G>C (p.Gly134Arg)
c.55G>C (p.Gly19Arg)
c.176G>C (p.Arg59Pro)
c.687-7953G>C (n.687-7953G>C)
c.1378G>C (p.Gly460Arg)
n.2615G>C
n.995-2456G>C
9g.133436910G=CA1882673156ADAMTS13c.1390G= (p.Gly464=)
c.1297G= (p.Gly433=)
c.646G= (p.Gly216=)
c.*194G= (n.*194G=)
n.974-2456G=
c.*674G= (n.*674G=)
n.993-2456G=
c.1000G= (p.Gly334=)
c.406G= (p.Gly136=)
c.400G= (p.Gly134=)
c.55G= (p.Gly19=)
c.176G= (p.Arg59=)
c.687-7953G= (n.687-7953G=)
c.1378G= (p.Gly460=)
n.2615G=
n.995-2456G=
9g.133436910G>TCA375391741ADAMTS13c.1390G>T (p.Gly464Cys)
c.1297G>T (p.Gly433Cys)
c.646G>T (p.Gly216Cys)
c.*194G>T (n.*194G>T)
n.974-2456G>T
c.*674G>T (n.*674G>T)
n.993-2456G>T
c.1000G>T (p.Gly334Cys)
c.406G>T (p.Gly136Cys)
c.400G>T (p.Gly134Cys)
c.55G>T (p.Gly19Cys)
c.176G>T (p.Arg59Leu)
c.687-7953G>T (n.687-7953G>T)
c.1378G>T (p.Gly460Cys)
n.2615G>T
n.995-2456G>T
9g.133436910_133436912delinsGGCCA1882673157ADAMTS13c.1390_1392delinsGGC (p.Gly464=)
c.1297_1299delinsGGC (p.Gly433=)
c.646_648delinsGGC (p.Gly216=)
c.*194_*196delinsGGC (n.*194_*196delinsGGC)
n.974-2456_974-2454delinsGGC
c.*674_*676delinsGGC (n.*674_*676delinsGGC)
n.993-2456_993-2454delinsGGC
c.1000_1002delinsGGC (p.Gly334=)
c.406_408delinsGGC (p.Gly136=)
c.400_402delinsGGC (p.Gly134=)
c.55_57delinsGGC (p.Gly19=)
c.176_178delinsGGC (p.Arg59=)
c.687-7953_687-7951delinsGGC (n.687-7953_687-7951delinsGGC)
c.1378_1380delinsGGC (p.Gly460=)
n.2615_2617delinsGGC
n.995-2456_995-2454delinsGGC
9g.133436911G>ACA375391743ADAMTS13c.1391G>A (p.Gly464Asp)
c.1298G>A (p.Gly433Asp)
c.647G>A (p.Gly216Asp)
c.*195G>A (n.*195G>A)
n.974-2455G>A
c.*675G>A (n.*675G>A)
n.993-2455G>A
c.1001G>A (p.Gly334Asp)
c.407G>A (p.Gly136Asp)
c.401G>A (p.Gly134Asp)
c.56G>A (p.Gly19Asp)
c.177G>A (p.Arg59=)
c.687-7952G>A (n.687-7952G>A)
c.1379G>A (p.Gly460Asp)
n.2616G>A
n.995-2455G>A
 gnomAD v4
9g.133436911G>CCA375391748ADAMTS13c.1391G>C (p.Gly464Ala)
c.1298G>C (p.Gly433Ala)
c.647G>C (p.Gly216Ala)
c.*195G>C (n.*195G>C)
n.974-2455G>C
c.*675G>C (n.*675G>C)
n.993-2455G>C
c.1001G>C (p.Gly334Ala)
c.407G>C (p.Gly136Ala)
c.401G>C (p.Gly134Ala)
c.56G>C (p.Gly19Ala)
c.177G>C (p.Arg59=)
c.687-7952G>C (n.687-7952G>C)
c.1379G>C (p.Gly460Ala)
n.2616G>C
n.995-2455G>C
9g.133436911G>TCA375391746ADAMTS13c.1391G>T (p.Gly464Val)
c.1298G>T (p.Gly433Val)
c.647G>T (p.Gly216Val)
c.*195G>T (n.*195G>T)
n.974-2455G>T
c.*675G>T (n.*675G>T)
n.993-2455G>T
c.1001G>T (p.Gly334Val)
c.407G>T (p.Gly136Val)
c.401G>T (p.Gly134Val)
c.56G>T (p.Gly19Val)
c.177G>T (p.Arg59=)
c.687-7952G>T (n.687-7952G>T)
c.1379G>T (p.Gly460Val)
n.2616G>T
n.995-2455G>T
 gnomAD v4
9g.133436913_133436914delCA860755575ADAMTS13c.1393_1394del (p.Ala465LeufsTer?)
c.1300_1301del (p.Ala434LeufsTer?)
c.649_650del (p.Ala217LeufsTer?)
c.*197_*198del (n.*197_*198del)
n.974-2453_974-2452del
c.*677_*678del (n.*677_*678del)
n.993-2453_993-2452del
c.1003_1004del (p.Ala335LeufsTer?)
c.409_410del (p.Ala137LeufsTer?)
c.403_404del (p.Ala135LeufsTer?)
c.58_59del (p.Ala20LeufsTer?)
c.179_180del (p.Arg60ProfsTer?)
c.687-7950_687-7949del (n.687-7950_687-7949del)
c.1381_1382del (p.Ala461LeufsTer?)
n.2618_2619del
n.995-2453_995-2452del
 ClinVar dbSNP gnomAD v4
9g.133436912C>ACA2692371359ADAMTS13c.1392C>A (p.Gly464=)
c.1299C>A (p.Gly433=)
c.648C>A (p.Gly216=)
c.*196C>A (n.*196C>A)
n.974-2454C>A
c.*676C>A (n.*676C>A)
n.993-2454C>A
c.1002C>A (p.Gly334=)
c.408C>A (p.Gly136=)
c.402C>A (p.Gly134=)
c.57C>A (p.Gly19=)
c.178C>A (p.Arg60Ser)
c.687-7951C>A (n.687-7951C>A)
c.1380C>A (p.Gly460=)
n.2617C>A
n.995-2454C>A
 gnomAD v4
9g.133436912C=CA1882673158ADAMTS13c.1392C= (p.Gly464=)
c.1299C= (p.Gly433=)
c.648C= (p.Gly216=)
c.*196C= (n.*196C=)
n.974-2454C=
c.*676C= (n.*676C=)
n.993-2454C=
c.1002C= (p.Gly334=)
c.408C= (p.Gly136=)
c.402C= (p.Gly134=)
c.57C= (p.Gly19=)
c.178C= (p.Arg60=)
c.687-7951C= (n.687-7951C=)
c.1380C= (p.Gly460=)
n.2617C=
n.995-2454C=
9g.133436912C>TCA200929700ADAMTS13c.1392C>T (p.Gly464=)
c.1299C>T (p.Gly433=)
c.648C>T (p.Gly216=)
c.*196C>T (n.*196C>T)
n.974-2454C>T
c.*676C>T (n.*676C>T)
n.993-2454C>T
c.1002C>T (p.Gly334=)
c.408C>T (p.Gly136=)
c.402C>T (p.Gly134=)
c.57C>T (p.Gly19=)
c.178C>T (p.Arg60Cys)
c.687-7951C>T (n.687-7951C>T)
c.1380C>T (p.Gly460=)
n.2617C>T
n.995-2454C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436913G>ACA375391751ADAMTS13c.1393G>A (p.Ala465Thr)
c.1300G>A (p.Ala434Thr)
c.649G>A (p.Ala217Thr)
c.*197G>A (n.*197G>A)
n.974-2453G>A
c.*677G>A (n.*677G>A)
n.993-2453G>A
c.1003G>A (p.Ala335Thr)
c.409G>A (p.Ala137Thr)
c.403G>A (p.Ala135Thr)
c.58G>A (p.Ala20Thr)
c.179G>A (p.Arg60His)
c.687-7950G>A (n.687-7950G>A)
c.1381G>A (p.Ala461Thr)
n.2618G>A
n.995-2453G>A
 dbSNP gnomAD v4
9g.133436913G>CCA375391752ADAMTS13c.1393G>C (p.Ala465Pro)
c.1300G>C (p.Ala434Pro)
c.649G>C (p.Ala217Pro)
c.*197G>C (n.*197G>C)
n.974-2453G>C
c.*677G>C (n.*677G>C)
n.993-2453G>C
c.1003G>C (p.Ala335Pro)
c.409G>C (p.Ala137Pro)
c.403G>C (p.Ala135Pro)
c.58G>C (p.Ala20Pro)
c.179G>C (p.Arg60Pro)
c.687-7950G>C (n.687-7950G>C)
c.1381G>C (p.Ala461Pro)
n.2618G>C
n.995-2453G>C
9g.133436913G=CA1882673159ADAMTS13c.1393G= (p.Ala465=)
c.1300G= (p.Ala434=)
c.649G= (p.Ala217=)
c.*197G= (n.*197G=)
n.974-2453G=
c.*677G= (n.*677G=)
n.993-2453G=
c.1003G= (p.Ala335=)
c.409G= (p.Ala137=)
c.403G= (p.Ala135=)
c.58G= (p.Ala20=)
c.179G= (p.Arg60=)
c.687-7950G= (n.687-7950G=)
c.1381G= (p.Ala461=)
n.2618G=
n.995-2453G=
9g.133436913G>TCA375391754ADAMTS13c.1393G>T (p.Ala465Ser)
c.1300G>T (p.Ala434Ser)
c.649G>T (p.Ala217Ser)
c.*197G>T (n.*197G>T)
n.974-2453G>T
c.*677G>T (n.*677G>T)
n.993-2453G>T
c.1003G>T (p.Ala335Ser)
c.409G>T (p.Ala137Ser)
c.403G>T (p.Ala135Ser)
c.58G>T (p.Ala20Ser)
c.179G>T (p.Arg60Leu)
c.687-7950G>T (n.687-7950G>T)
c.1381G>T (p.Ala461Ser)
n.2618G>T
n.995-2453G>T
 gnomAD v4
9g.133436914C>ACA375391756ADAMTS13c.1394C>A (p.Ala465Asp)
c.1301C>A (p.Ala434Asp)
c.650C>A (p.Ala217Asp)
c.*198C>A (n.*198C>A)
n.974-2452C>A
c.*678C>A (n.*678C>A)
n.993-2452C>A
c.1004C>A (p.Ala335Asp)
c.410C>A (p.Ala137Asp)
c.404C>A (p.Ala135Asp)
c.59C>A (p.Ala20Asp)
c.180C>A (p.Arg60=)
c.687-7949C>A (n.687-7949C>A)
c.1382C>A (p.Ala461Asp)
n.2619C>A
n.995-2452C>A
 gnomAD v4
9g.133436914C>GCA375391760ADAMTS13c.1394C>G (p.Ala465Gly)
c.1301C>G (p.Ala434Gly)
c.650C>G (p.Ala217Gly)
c.*198C>G (n.*198C>G)
n.974-2452C>G
c.*678C>G (n.*678C>G)
n.993-2452C>G
c.1004C>G (p.Ala335Gly)
c.410C>G (p.Ala137Gly)
c.404C>G (p.Ala135Gly)
c.59C>G (p.Ala20Gly)
c.180C>G (p.Arg60=)
c.687-7949C>G (n.687-7949C>G)
c.1382C>G (p.Ala461Gly)
n.2619C>G
n.995-2452C>G
9g.133436914C>TCA375391758ADAMTS13c.1394C>T (p.Ala465Val)
c.1301C>T (p.Ala434Val)
c.650C>T (p.Ala217Val)
c.*198C>T (n.*198C>T)
n.974-2452C>T
c.*678C>T (n.*678C>T)
n.993-2452C>T
c.1004C>T (p.Ala335Val)
c.410C>T (p.Ala137Val)
c.404C>T (p.Ala135Val)
c.59C>T (p.Ala20Val)
c.180C>T (p.Arg60=)
c.687-7949C>T (n.687-7949C>T)
c.1382C>T (p.Ala461Val)
n.2619C>T
n.995-2452C>T
 gnomAD v4
9g.133436915C>ACA2692371367ADAMTS13c.1395C>A (p.Ala465=)
c.1302C>A (p.Ala434=)
c.651C>A (p.Ala217=)
c.*199C>A (n.*199C>A)
n.974-2451C>A
c.*679C>A (n.*679C>A)
n.993-2451C>A
c.1005C>A (p.Ala335=)
c.411C>A (p.Ala137=)
c.405C>A (p.Ala135=)
c.60C>A (p.Ala20=)
c.181C>A (p.Leu61Ile)
c.687-7948C>A (n.687-7948C>A)
c.1383C>A (p.Ala461=)
n.2620C>A
n.995-2451C>A
 gnomAD v4
9g.133436915C=CA1882673160ADAMTS13c.1395C= (p.Ala465=)
c.1302C= (p.Ala434=)
c.651C= (p.Ala217=)
c.*199C= (n.*199C=)
n.974-2451C=
c.*679C= (n.*679C=)
n.993-2451C=
c.1005C= (p.Ala335=)
c.411C= (p.Ala137=)
c.405C= (p.Ala135=)
c.60C= (p.Ala20=)
c.181C= (p.Leu61=)
c.687-7948C= (n.687-7948C=)
c.1383C= (p.Ala461=)
n.2620C=
n.995-2451C=
9g.133436915C>GCA1882673161ADAMTS13c.1395C>G (p.Ala465=)
c.1302C>G (p.Ala434=)
c.651C>G (p.Ala217=)
c.*199C>G (n.*199C>G)
n.974-2451C>G
c.*679C>G (n.*679C>G)
n.993-2451C>G
c.1005C>G (p.Ala335=)
c.411C>G (p.Ala137=)
c.405C>G (p.Ala135=)
c.60C>G (p.Ala20=)
c.181C>G (p.Leu61Val)
c.687-7948C>G (n.687-7948C>G)
c.1383C>G (p.Ala461=)
n.2620C>G
n.995-2451C>G
 dbSNP
9g.133436915C>TCA860755587ADAMTS13c.1395C>T (p.Ala465=)
c.1302C>T (p.Ala434=)
c.651C>T (p.Ala217=)
c.*199C>T (n.*199C>T)
n.974-2451C>T
c.*679C>T (n.*679C>T)
n.993-2451C>T
c.1005C>T (p.Ala335=)
c.411C>T (p.Ala137=)
c.405C>T (p.Ala135=)
c.60C>T (p.Ala20=)
c.181C>T (p.Leu61Phe)
c.687-7948C>T (n.687-7948C>T)
c.1383C>T (p.Ala461=)
n.2620C>T
n.995-2451C>T
 dbSNP gnomAD v3 gnomAD v4
9g.133436916T>ACA375391762ADAMTS13c.1396T>A (p.Ser466Thr)
c.1303T>A (p.Ser435Thr)
c.652T>A (p.Ser218Thr)
c.*200T>A (n.*200T>A)
n.974-2450T>A
c.*680T>A (n.*680T>A)
n.993-2450T>A
c.1006T>A (p.Ser336Thr)
c.412T>A (p.Ser138Thr)
c.406T>A (p.Ser136Thr)
c.61T>A (p.Ser21Thr)
c.182T>A (p.Leu61His)
c.687-7947T>A (n.687-7947T>A)
c.1384T>A (p.Ser462Thr)
n.2621T>A
n.995-2450T>A
9g.133436916T>CCA375391764ADAMTS13c.1396T>C (p.Ser466Pro)
c.1303T>C (p.Ser435Pro)
c.652T>C (p.Ser218Pro)
c.*200T>C (n.*200T>C)
n.974-2450T>C
c.*680T>C (n.*680T>C)
n.993-2450T>C
c.1006T>C (p.Ser336Pro)
c.412T>C (p.Ser138Pro)
c.406T>C (p.Ser136Pro)
c.61T>C (p.Ser21Pro)
c.182T>C (p.Leu61Pro)
c.687-7947T>C (n.687-7947T>C)
c.1384T>C (p.Ser462Pro)
n.2621T>C
n.995-2450T>C
 gnomAD v4
9g.133436916T>GCA375391766ADAMTS13c.1396T>G (p.Ser466Ala)
c.1303T>G (p.Ser435Ala)
c.652T>G (p.Ser218Ala)
c.*200T>G (n.*200T>G)
n.974-2450T>G
c.*680T>G (n.*680T>G)
n.993-2450T>G
c.1006T>G (p.Ser336Ala)
c.412T>G (p.Ser138Ala)
c.406T>G (p.Ser136Ala)
c.61T>G (p.Ser21Ala)
c.182T>G (p.Leu61Arg)
c.687-7947T>G (n.687-7947T>G)
c.1384T>G (p.Ser462Ala)
n.2621T>G
n.995-2450T>G
 dbSNP gnomAD v4
9g.133436916T=CA1882673162ADAMTS13c.1396T= (p.Ser466=)
c.1303T= (p.Ser435=)
c.652T= (p.Ser218=)
c.*200T= (n.*200T=)
n.974-2450T=
c.*680T= (n.*680T=)
n.993-2450T=
c.1006T= (p.Ser336=)
c.412T= (p.Ser138=)
c.406T= (p.Ser136=)
c.61T= (p.Ser21=)
c.182T= (p.Leu61=)
c.687-7947T= (n.687-7947T=)
c.1384T= (p.Ser462=)
n.2621T=
n.995-2450T=
9g.133436917C>ACA375391768ADAMTS13c.1397C>A (p.Ser466Tyr)
c.1304C>A (p.Ser435Tyr)
c.653C>A (p.Ser218Tyr)
c.*201C>A (n.*201C>A)
n.974-2449C>A
c.*681C>A (n.*681C>A)
n.993-2449C>A
c.1007C>A (p.Ser336Tyr)
c.413C>A (p.Ser138Tyr)
c.407C>A (p.Ser136Tyr)
c.62C>A (p.Ser21Tyr)
c.183C>A (p.Leu61=)
c.687-7946C>A (n.687-7946C>A)
c.1385C>A (p.Ser462Tyr)
n.2622C>A
n.995-2449C>A
9g.133436917C>GCA375391770ADAMTS13c.1397C>G (p.Ser466Cys)
c.1304C>G (p.Ser435Cys)
c.653C>G (p.Ser218Cys)
c.*201C>G (n.*201C>G)
n.974-2449C>G
c.*681C>G (n.*681C>G)
n.993-2449C>G
c.1007C>G (p.Ser336Cys)
c.413C>G (p.Ser138Cys)
c.407C>G (p.Ser136Cys)
c.62C>G (p.Ser21Cys)
c.183C>G (p.Leu61=)
c.687-7946C>G (n.687-7946C>G)
c.1385C>G (p.Ser462Cys)
n.2622C>G
n.995-2449C>G
9g.133436917C>TCA375391772ADAMTS13c.1397C>T (p.Ser466Phe)
c.1304C>T (p.Ser435Phe)
c.653C>T (p.Ser218Phe)
c.*201C>T (n.*201C>T)
n.974-2449C>T
c.*681C>T (n.*681C>T)
n.993-2449C>T
c.1007C>T (p.Ser336Phe)
c.413C>T (p.Ser138Phe)
c.407C>T (p.Ser136Phe)
c.62C>T (p.Ser21Phe)
c.183C>T (p.Leu61=)
c.687-7946C>T (n.687-7946C>T)
c.1385C>T (p.Ser462Phe)
n.2622C>T
n.995-2449C>T
9g.133436918delCA2692371373ADAMTS13c.1398del (p.Phe467SerfsTer?)
c.1305del (p.Phe436SerfsTer?)
c.654del (p.Phe219SerfsTer?)
c.*202del (n.*202del)
n.974-2448del
c.*682del (n.*682del)
n.993-2448del
c.1008del (p.Phe337SerfsTer?)
c.414del (p.Phe139SerfsTer?)
c.408del (p.Phe137SerfsTer?)
c.63del (p.Phe22SerfsTer?)
c.184del (p.Leu62PhefsTer?)
c.687-7945del (n.687-7945del)
c.1386del (p.Phe463SerfsTer?)
n.2623del
n.995-2448del
 gnomAD v4
9g.133436917_133436920delinsCCTTCA1882673163ADAMTS13c.1397_1400delinsCCTT (p.Ser466=)
c.1304_1307delinsCCTT (p.Ser435=)
c.653_656delinsCCTT (p.Ser218=)
c.*201_*204delinsCCTT (n.*201_*204delinsCCTT)
n.974-2449_974-2446delinsCCTT
c.*681_*684delinsCCTT (n.*681_*684delinsCCTT)
n.993-2449_993-2446delinsCCTT
c.1007_1010delinsCCTT (p.Ser336=)
c.413_416delinsCCTT (p.Ser138=)
c.407_410delinsCCTT (p.Ser136=)
c.62_65delinsCCTT (p.Ser21=)
c.183_186delinsCCTT (p.Leu61=)
c.687-7946_687-7943delinsCCTT (n.687-7946_687-7943delinsCCTT)
c.1385_1388delinsCCTT (p.Ser462=)
n.2622_2625delinsCCTT
n.995-2449_995-2446delinsCCTT
9g.133436918C=CA1882673164ADAMTS13c.1398C= (p.Ser466=)
c.1305C= (p.Ser435=)
c.654C= (p.Ser218=)
c.*202C= (n.*202C=)
n.974-2448C=
c.*682C= (n.*682C=)
n.993-2448C=
c.1008C= (p.Ser336=)
c.414C= (p.Ser138=)
c.408C= (p.Ser136=)
c.63C= (p.Ser21=)
c.184C= (p.Leu62=)
c.687-7945C= (n.687-7945C=)
c.1386C= (p.Ser462=)
n.2623C=
n.995-2448C=
9g.133436918C>TCA1882673165ADAMTS13c.1398C>T (p.Ser466=)
c.1305C>T (p.Ser435=)
c.654C>T (p.Ser218=)
c.*202C>T (n.*202C>T)
n.974-2448C>T
c.*682C>T (n.*682C>T)
n.993-2448C>T
c.1008C>T (p.Ser336=)
c.414C>T (p.Ser138=)
c.408C>T (p.Ser136=)
c.63C>T (p.Ser21=)
c.184C>T (p.Leu62Phe)
c.687-7945C>T (n.687-7945C>T)
c.1386C>T (p.Ser462=)
n.2623C>T
n.995-2448C>T
 dbSNP
9g.133436920_133436922delCA1129743551ADAMTS13c.1400_1402del (p.Phe467del)
c.1307_1309del (p.Phe436del)
c.656_658del (p.Phe219del)
c.*204_*206del (n.*204_*206del)
n.974-2446_974-2444del
c.*684_*686del (n.*684_*686del)
n.993-2446_993-2444del
c.1010_1012del (p.Phe337del)
c.416_418del (p.Phe139del)
c.410_412del (p.Phe137del)
c.65_67del (p.Phe22del)
c.186_188del (p.Leu63del)
c.687-7943_687-7941del (n.687-7943_687-7941del)
c.1388_1390del (p.Phe463del)
n.2625_2627del
n.995-2446_995-2444del
 dbSNP gnomAD v3 gnomAD v4
9g.133436919T>ACA375391775ADAMTS13c.1399T>A (p.Phe467Ile)
c.1306T>A (p.Phe436Ile)
c.655T>A (p.Phe219Ile)
c.*203T>A (n.*203T>A)
n.974-2447T>A
c.*683T>A (n.*683T>A)
n.993-2447T>A
c.1009T>A (p.Phe337Ile)
c.415T>A (p.Phe139Ile)
c.409T>A (p.Phe137Ile)
c.64T>A (p.Phe22Ile)
c.185T>A (p.Leu62His)
c.687-7944T>A (n.687-7944T>A)
c.1387T>A (p.Phe463Ile)
n.2624T>A
n.995-2447T>A
9g.133436919T>CCA375391777ADAMTS13c.1399T>C (p.Phe467Leu)
c.1306T>C (p.Phe436Leu)
c.655T>C (p.Phe219Leu)
c.*203T>C (n.*203T>C)
n.974-2447T>C
c.*683T>C (n.*683T>C)
n.993-2447T>C
c.1009T>C (p.Phe337Leu)
c.415T>C (p.Phe139Leu)
c.409T>C (p.Phe137Leu)
c.64T>C (p.Phe22Leu)
c.185T>C (p.Leu62Pro)
c.687-7944T>C (n.687-7944T>C)
c.1387T>C (p.Phe463Leu)
n.2624T>C
n.995-2447T>C
9g.133436919T>GCA375391779ADAMTS13c.1399T>G (p.Phe467Val)
c.1306T>G (p.Phe436Val)
c.655T>G (p.Phe219Val)
c.*203T>G (n.*203T>G)
n.974-2447T>G
c.*683T>G (n.*683T>G)
n.993-2447T>G
c.1009T>G (p.Phe337Val)
c.415T>G (p.Phe139Val)
c.409T>G (p.Phe137Val)
c.64T>G (p.Phe22Val)
c.185T>G (p.Leu62Arg)
c.687-7944T>G (n.687-7944T>G)
c.1387T>G (p.Phe463Val)
n.2624T>G
n.995-2447T>G
9g.133436920T>ACA375391781ADAMTS13c.1400T>A (p.Phe467Tyr)
c.1307T>A (p.Phe436Tyr)
c.656T>A (p.Phe219Tyr)
c.*204T>A (n.*204T>A)
n.974-2446T>A
c.*684T>A (n.*684T>A)
n.993-2446T>A
c.1010T>A (p.Phe337Tyr)
c.416T>A (p.Phe139Tyr)
c.410T>A (p.Phe137Tyr)
c.65T>A (p.Phe22Tyr)
c.186T>A (p.Leu62=)
c.687-7943T>A (n.687-7943T>A)
c.1388T>A (p.Phe463Tyr)
n.2625T>A
n.995-2446T>A
9g.133436920T>CCA375391782ADAMTS13c.1400T>C (p.Phe467Ser)
c.1307T>C (p.Phe436Ser)
c.656T>C (p.Phe219Ser)
c.*204T>C (n.*204T>C)
n.974-2446T>C
c.*684T>C (n.*684T>C)
n.993-2446T>C
c.1010T>C (p.Phe337Ser)
c.416T>C (p.Phe139Ser)
c.410T>C (p.Phe137Ser)
c.65T>C (p.Phe22Ser)
c.186T>C (p.Leu62=)
c.687-7943T>C (n.687-7943T>C)
c.1388T>C (p.Phe463Ser)
n.2625T>C
n.995-2446T>C
9g.133436920T>GCA375391783ADAMTS13c.1400T>G (p.Phe467Cys)
c.1307T>G (p.Phe436Cys)
c.656T>G (p.Phe219Cys)
c.*204T>G (n.*204T>G)
n.974-2446T>G
c.*684T>G (n.*684T>G)
n.993-2446T>G
c.1010T>G (p.Phe337Cys)
c.416T>G (p.Phe139Cys)
c.410T>G (p.Phe137Cys)
c.65T>G (p.Phe22Cys)
c.186T>G (p.Leu62=)
c.687-7943T>G (n.687-7943T>G)
c.1388T>G (p.Phe463Cys)
n.2625T>G
n.995-2446T>G
9g.133436921C>ACA375391786ADAMTS13c.1401C>A (p.Phe467Leu)
c.1308C>A (p.Phe436Leu)
c.657C>A (p.Phe219Leu)
c.*205C>A (n.*205C>A)
n.974-2445C>A
c.*685C>A (n.*685C>A)
n.993-2445C>A
c.1011C>A (p.Phe337Leu)
c.417C>A (p.Phe139Leu)
c.411C>A (p.Phe137Leu)
c.66C>A (p.Phe22Leu)
c.187C>A (p.Leu63Ile)
c.687-7942C>A (n.687-7942C>A)
c.1389C>A (p.Phe463Leu)
n.2626C>A
n.995-2445C>A
 dbSNP gnomAD v4
9g.133436921C=CA1882673166ADAMTS13c.1401C= (p.Phe467=)
c.1308C= (p.Phe436=)
c.657C= (p.Phe219=)
c.*205C= (n.*205C=)
n.974-2445C=
c.*685C= (n.*685C=)
n.993-2445C=
c.1011C= (p.Phe337=)
c.417C= (p.Phe139=)
c.411C= (p.Phe137=)
c.66C= (p.Phe22=)
c.187C= (p.Leu63=)
c.687-7942C= (n.687-7942C=)
c.1389C= (p.Phe463=)
n.2626C=
n.995-2445C=
9g.133436921C>GCA375391787ADAMTS13c.1401C>G (p.Phe467Leu)
c.1308C>G (p.Phe436Leu)
c.657C>G (p.Phe219Leu)
c.*205C>G (n.*205C>G)
n.974-2445C>G
c.*685C>G (n.*685C>G)
n.993-2445C>G
c.1011C>G (p.Phe337Leu)
c.417C>G (p.Phe139Leu)
c.411C>G (p.Phe137Leu)
c.66C>G (p.Phe22Leu)
c.187C>G (p.Leu63Val)
c.687-7942C>G (n.687-7942C>G)
c.1389C>G (p.Phe463Leu)
n.2626C>G
n.995-2445C>G
 dbSNP gnomAD v4
9g.133436922T>ACA375391790ADAMTS13c.1402T>A (p.Tyr468Asn)
c.1309T>A (p.Tyr437Asn)
c.658T>A (p.Tyr220Asn)
c.*206T>A (n.*206T>A)
n.974-2444T>A
c.*686T>A (n.*686T>A)
n.993-2444T>A
c.1012T>A (p.Tyr338Asn)
c.418T>A (p.Tyr140Asn)
c.412T>A (p.Tyr138Asn)
c.67T>A (p.Tyr23Asn)
c.188T>A (p.Leu63Gln)
c.687-7941T>A (n.687-7941T>A)
c.1390T>A (p.Tyr464Asn)
n.2627T>A
n.995-2444T>A
9g.133436922T>CCA375391793ADAMTS13c.1402T>C (p.Tyr468His)
c.1309T>C (p.Tyr437His)
c.658T>C (p.Tyr220His)
c.*206T>C (n.*206T>C)
n.974-2444T>C
c.*686T>C (n.*686T>C)
n.993-2444T>C
c.1012T>C (p.Tyr338His)
c.418T>C (p.Tyr140His)
c.412T>C (p.Tyr138His)
c.67T>C (p.Tyr23His)
c.188T>C (p.Leu63Pro)
c.687-7941T>C (n.687-7941T>C)
c.1390T>C (p.Tyr464His)
n.2627T>C
n.995-2444T>C
 gnomAD v4
9g.133436922T>GCA375391791ADAMTS13c.1402T>G (p.Tyr468Asp)
c.1309T>G (p.Tyr437Asp)
c.658T>G (p.Tyr220Asp)
c.*206T>G (n.*206T>G)
n.974-2444T>G
c.*686T>G (n.*686T>G)
n.993-2444T>G
c.1012T>G (p.Tyr338Asp)
c.418T>G (p.Tyr140Asp)
c.412T>G (p.Tyr138Asp)
c.67T>G (p.Tyr23Asp)
c.188T>G (p.Leu63Arg)
c.687-7941T>G (n.687-7941T>G)
c.1390T>G (p.Tyr464Asp)
n.2627T>G
n.995-2444T>G
9g.133436923A=CA1882673167ADAMTS13c.1403A= (p.Tyr468=)
c.1310A= (p.Tyr437=)
c.659A= (p.Tyr220=)
c.*207A= (n.*207A=)
n.974-2443A=
c.*687A= (n.*687A=)
n.993-2443A=
c.1013A= (p.Tyr338=)
c.419A= (p.Tyr140=)
c.413A= (p.Tyr138=)
c.68A= (p.Tyr23=)
c.189A= (p.Leu63=)
c.687-7940A= (n.687-7940A=)
c.1391A= (p.Tyr464=)
n.2628A=
n.995-2443A=
9g.133436923A>CCA375391795ADAMTS13c.1403A>C (p.Tyr468Ser)
c.1310A>C (p.Tyr437Ser)
c.659A>C (p.Tyr220Ser)
c.*207A>C (n.*207A>C)
n.974-2443A>C
c.*687A>C (n.*687A>C)
n.993-2443A>C
c.1013A>C (p.Tyr338Ser)
c.419A>C (p.Tyr140Ser)
c.413A>C (p.Tyr138Ser)
c.68A>C (p.Tyr23Ser)
c.189A>C (p.Leu63=)
c.687-7940A>C (n.687-7940A>C)
c.1391A>C (p.Tyr464Ser)
n.2628A>C
n.995-2443A>C
9g.133436923A>GCA200929704ADAMTS13c.1403A>G (p.Tyr468Cys)
c.1310A>G (p.Tyr437Cys)
c.659A>G (p.Tyr220Cys)
c.*207A>G (n.*207A>G)
n.974-2443A>G
c.*687A>G (n.*687A>G)
n.993-2443A>G
c.1013A>G (p.Tyr338Cys)
c.419A>G (p.Tyr140Cys)
c.413A>G (p.Tyr138Cys)
c.68A>G (p.Tyr23Cys)
c.189A>G (p.Leu63=)
c.687-7940A>G (n.687-7940A>G)
c.1391A>G (p.Tyr464Cys)
n.2628A>G
n.995-2443A>G
 dbSNP gnomAD v3 gnomAD v4
9g.133436923A>TCA375391796ADAMTS13c.1403A>T (p.Tyr468Phe)
c.1310A>T (p.Tyr437Phe)
c.659A>T (p.Tyr220Phe)
c.*207A>T (n.*207A>T)
n.974-2443A>T
c.*687A>T (n.*687A>T)
n.993-2443A>T
c.1013A>T (p.Tyr338Phe)
c.419A>T (p.Tyr140Phe)
c.413A>T (p.Tyr138Phe)
c.68A>T (p.Tyr23Phe)
c.189A>T (p.Leu63=)
c.687-7940A>T (n.687-7940A>T)
c.1391A>T (p.Tyr464Phe)
n.2628A>T
n.995-2443A>T
9g.133436924C>ACA375391798ADAMTS13c.1404C>A (p.Tyr468Ter)
c.1311C>A (p.Tyr437Ter)
c.660C>A (p.Tyr220Ter)
c.*208C>A (n.*208C>A)
n.974-2442C>A
c.*688C>A (n.*688C>A)
n.993-2442C>A
c.1014C>A (p.Tyr338Ter)
c.420C>A (p.Tyr140Ter)
c.414C>A (p.Tyr138Ter)
c.69C>A (p.Tyr23Ter)
c.190C>A (p.Pro64Thr)
c.687-7939C>A (n.687-7939C>A)
c.1392C>A (p.Tyr464Ter)
n.2629C>A
n.995-2442C>A
 gnomAD v4
9g.133436924C>GCA375391799ADAMTS13c.1404C>G (p.Tyr468Ter)
c.1311C>G (p.Tyr437Ter)
c.660C>G (p.Tyr220Ter)
c.*208C>G (n.*208C>G)
n.974-2442C>G
c.*688C>G (n.*688C>G)
n.993-2442C>G
c.1014C>G (p.Tyr338Ter)
c.420C>G (p.Tyr140Ter)
c.414C>G (p.Tyr138Ter)
c.69C>G (p.Tyr23Ter)
c.190C>G (p.Pro64Ala)
c.687-7939C>G (n.687-7939C>G)
c.1392C>G (p.Tyr464Ter)
n.2629C>G
n.995-2442C>G
9g.133436925C>ACA375391801ADAMTS13c.1405C>A (p.His469Asn)
c.1312C>A (p.His438Asn)
c.661C>A (p.His221Asn)
c.*209C>A (n.*209C>A)
n.974-2441C>A
c.*689C>A (n.*689C>A)
n.993-2441C>A
c.1015C>A (p.His339Asn)
c.421C>A (p.His141Asn)
c.415C>A (p.His139Asn)
c.70C>A (p.His24Asn)
c.191C>A (p.Pro64Gln)
c.687-7938C>A (n.687-7938C>A)
c.1393C>A (p.His465Asn)
n.2630C>A
n.995-2441C>A
9g.133436925C>GCA375391803ADAMTS13c.1405C>G (p.His469Asp)
c.1312C>G (p.His438Asp)
c.661C>G (p.His221Asp)
c.*209C>G (n.*209C>G)
n.974-2441C>G
c.*689C>G (n.*689C>G)
n.993-2441C>G
c.1015C>G (p.His339Asp)
c.421C>G (p.His141Asp)
c.415C>G (p.His139Asp)
c.70C>G (p.His24Asp)
c.191C>G (p.Pro64Arg)
c.687-7938C>G (n.687-7938C>G)
c.1393C>G (p.His465Asp)
n.2630C>G
n.995-2441C>G
9g.133436925C>TCA375391804ADAMTS13c.1405C>T (p.His469Tyr)
c.1312C>T (p.His438Tyr)
c.661C>T (p.His221Tyr)
c.*209C>T (n.*209C>T)
n.974-2441C>T
c.*689C>T (n.*689C>T)
n.993-2441C>T
c.1015C>T (p.His339Tyr)
c.421C>T (p.His141Tyr)
c.415C>T (p.His139Tyr)
c.70C>T (p.His24Tyr)
c.191C>T (p.Pro64Leu)
c.687-7938C>T (n.687-7938C>T)
c.1393C>T (p.His465Tyr)
n.2630C>T
n.995-2441C>T
9g.133436926A>CCA375391807ADAMTS13c.1406A>C (p.His469Pro)
c.1313A>C (p.His438Pro)
c.662A>C (p.His221Pro)
c.*210A>C (n.*210A>C)
n.974-2440A>C
c.*690A>C (n.*690A>C)
n.993-2440A>C
c.1016A>C (p.His339Pro)
c.422A>C (p.His141Pro)
c.416A>C (p.His139Pro)
c.71A>C (p.His24Pro)
c.192A>C (p.Pro64=)
c.687-7937A>C (n.687-7937A>C)
c.1394A>C (p.His465Pro)
n.2631A>C
n.995-2440A>C
9g.133436926A>GCA375391809ADAMTS13c.1406A>G (p.His469Arg)
c.1313A>G (p.His438Arg)
c.662A>G (p.His221Arg)
c.*210A>G (n.*210A>G)
n.974-2440A>G
c.*690A>G (n.*690A>G)
n.993-2440A>G
c.1016A>G (p.His339Arg)
c.422A>G (p.His141Arg)
c.416A>G (p.His139Arg)
c.71A>G (p.His24Arg)
c.192A>G (p.Pro64=)
c.687-7937A>G (n.687-7937A>G)
c.1394A>G (p.His465Arg)
n.2631A>G
n.995-2440A>G
9g.133436926A>TCA375391811ADAMTS13c.1406A>T (p.His469Leu)
c.1313A>T (p.His438Leu)
c.662A>T (p.His221Leu)
c.*210A>T (n.*210A>T)
n.974-2440A>T
c.*690A>T (n.*690A>T)
n.993-2440A>T
c.1016A>T (p.His339Leu)
c.422A>T (p.His141Leu)
c.416A>T (p.His139Leu)
c.71A>T (p.His24Leu)
c.192A>T (p.Pro64=)
c.687-7937A>T (n.687-7937A>T)
c.1394A>T (p.His465Leu)
n.2631A>T
n.995-2440A>T
 gnomAD v4
9g.133436927C>ACA375391813ADAMTS13c.1407C>A (p.His469Gln)
c.1314C>A (p.His438Gln)
c.663C>A (p.His221Gln)
c.*211C>A (n.*211C>A)
n.974-2439C>A
c.*691C>A (n.*691C>A)
n.993-2439C>A
c.1017C>A (p.His339Gln)
c.423C>A (p.His141Gln)
c.417C>A (p.His139Gln)
c.72C>A (p.His24Gln)
c.193C>A (p.Leu65Met)
c.687-7936C>A (n.687-7936C>A)
c.1395C>A (p.His465Gln)
n.2632C>A
n.995-2439C>A
 gnomAD v4
9g.133436927C>GCA375391814ADAMTS13c.1407C>G (p.His469Gln)
c.1314C>G (p.His438Gln)
c.663C>G (p.His221Gln)
c.*211C>G (n.*211C>G)
n.974-2439C>G
c.*691C>G (n.*691C>G)
n.993-2439C>G
c.1017C>G (p.His339Gln)
c.423C>G (p.His141Gln)
c.417C>G (p.His139Gln)
c.72C>G (p.His24Gln)
c.193C>G (p.Leu65Val)
c.687-7936C>G (n.687-7936C>G)
c.1395C>G (p.His465Gln)
n.2632C>G
n.995-2439C>G
 gnomAD v4
9g.133436928T>ACA375391816ADAMTS13c.1408T>A (p.Trp470Arg)
c.1315T>A (p.Trp439Arg)
c.664T>A (p.Trp222Arg)
c.*212T>A (n.*212T>A)
n.974-2438T>A
c.*692T>A (n.*692T>A)
n.993-2438T>A
c.1018T>A (p.Trp340Arg)
c.424T>A (p.Trp142Arg)
c.418T>A (p.Trp140Arg)
c.73T>A (p.Trp25Arg)
c.194T>A (p.Leu65Gln)
c.687-7935T>A (n.687-7935T>A)
c.1396T>A (p.Trp466Arg)
n.2633T>A
n.995-2438T>A
9g.133436928T>CCA375391820ADAMTS13c.1408T>C (p.Trp470Arg)
c.1315T>C (p.Trp439Arg)
c.664T>C (p.Trp222Arg)
c.*212T>C (n.*212T>C)
n.974-2438T>C
c.*692T>C (n.*692T>C)
n.993-2438T>C
c.1018T>C (p.Trp340Arg)
c.424T>C (p.Trp142Arg)
c.418T>C (p.Trp140Arg)
c.73T>C (p.Trp25Arg)
c.194T>C (p.Leu65Pro)
c.687-7935T>C (n.687-7935T>C)
c.1396T>C (p.Trp466Arg)
n.2633T>C
n.995-2438T>C
 gnomAD v4
9g.133436928T>GCA375391818ADAMTS13c.1408T>G (p.Trp470Gly)
c.1315T>G (p.Trp439Gly)
c.664T>G (p.Trp222Gly)
c.*212T>G (n.*212T>G)
n.974-2438T>G
c.*692T>G (n.*692T>G)
n.993-2438T>G
c.1018T>G (p.Trp340Gly)
c.424T>G (p.Trp142Gly)
c.418T>G (p.Trp140Gly)
c.73T>G (p.Trp25Gly)
c.194T>G (p.Leu65Arg)
c.687-7935T>G (n.687-7935T>G)
c.1396T>G (p.Trp466Gly)
n.2633T>G
n.995-2438T>G
9g.133436928dupCA2695211618ADAMTS13c.1408dup (p.Trp470LeufsTer?)
c.1315dup (p.Trp439LeufsTer?)
c.664dup (p.Trp222LeufsTer?)
c.*212dup (n.*212dup)
n.974-2438dup
c.*692dup (n.*692dup)
n.993-2438dup
c.1018dup (p.Trp340LeufsTer?)
c.424dup (p.Trp142LeufsTer?)
c.418dup (p.Trp140LeufsTer?)
c.73dup (p.Trp25LeufsTer?)
c.194dup (p.Cys67ValfsTer26)
c.687-7935dup (n.687-7935dup)
c.1396dup (p.Trp466LeufsTer?)
n.2633dup
n.995-2438dup
9g.133436929G>ACA375391822ADAMTS13c.1409G>A (p.Trp470Ter)
c.1316G>A (p.Trp439Ter)
c.665G>A (p.Trp222Ter)
c.*213G>A (n.*213G>A)
n.974-2437G>A
c.*693G>A (n.*693G>A)
n.993-2437G>A
c.1019G>A (p.Trp340Ter)
c.425G>A (p.Trp142Ter)
c.419G>A (p.Trp140Ter)
c.74G>A (p.Trp25Ter)
c.195G>A (p.Leu65=)
c.687-7934G>A (n.687-7934G>A)
c.1397G>A (p.Trp466Ter)
n.2634G>A
n.995-2437G>A
 dbSNP gnomAD v4
9g.133436929G>CCA375391823ADAMTS13c.1409G>C (p.Trp470Ser)
c.1316G>C (p.Trp439Ser)
c.665G>C (p.Trp222Ser)
c.*213G>C (n.*213G>C)
n.974-2437G>C
c.*693G>C (n.*693G>C)
n.993-2437G>C
c.1019G>C (p.Trp340Ser)
c.425G>C (p.Trp142Ser)
c.419G>C (p.Trp140Ser)
c.74G>C (p.Trp25Ser)
c.195G>C (p.Leu65=)
c.687-7934G>C (n.687-7934G>C)
c.1397G>C (p.Trp466Ser)
n.2634G>C
n.995-2437G>C
9g.133436929G=CA1882673168ADAMTS13c.1409G= (p.Trp470=)
c.1316G= (p.Trp439=)
c.665G= (p.Trp222=)
c.*213G= (n.*213G=)
n.974-2437G=
c.*693G= (n.*693G=)
n.993-2437G=
c.1019G= (p.Trp340=)
c.425G= (p.Trp142=)
c.419G= (p.Trp140=)
c.74G= (p.Trp25=)
c.195G= (p.Leu65=)
c.687-7934G= (n.687-7934G=)
c.1397G= (p.Trp466=)
n.2634G=
n.995-2437G=
9g.133436929G>TCA375391825ADAMTS13c.1409G>T (p.Trp470Leu)
c.1316G>T (p.Trp439Leu)
c.665G>T (p.Trp222Leu)
c.*213G>T (n.*213G>T)
n.974-2437G>T
c.*693G>T (n.*693G>T)
n.993-2437G>T
c.1019G>T (p.Trp340Leu)
c.425G>T (p.Trp142Leu)
c.419G>T (p.Trp140Leu)
c.74G>T (p.Trp25Leu)
c.195G>T (p.Leu65=)
c.687-7934G>T (n.687-7934G>T)
c.1397G>T (p.Trp466Leu)
n.2634G>T
n.995-2437G>T
9g.133436932delCA2692371411ADAMTS13c.1412del (p.Gly471ValfsTer26)
c.1319del (p.Gly440ValfsTer26)
c.668del (p.Gly223ValfsTer26)
c.*216del (n.*216del)
n.974-2434del
c.*696del (n.*696del)
n.993-2434del
c.1022del (p.Gly341ValfsTer26)
c.428del (p.Gly143ValfsTer26)
c.422del (p.Gly141ValfsTer26)
c.77del (p.Gly26ValfsTer26)
c.198del (p.Cys67AlafsTer?)
c.687-7931del (n.687-7931del)
c.1400del (p.Gly467ValfsTer26)
n.2637del
n.995-2434del
 gnomAD v4
9g.133436930G>ACA375391827ADAMTS13c.1410G>A (p.Trp470Ter)
c.1317G>A (p.Trp439Ter)
c.666G>A (p.Trp222Ter)
c.*214G>A (n.*214G>A)
n.974-2436G>A
c.*694G>A (n.*694G>A)
n.993-2436G>A
c.1020G>A (p.Trp340Ter)
c.426G>A (p.Trp142Ter)
c.420G>A (p.Trp140Ter)
c.75G>A (p.Trp25Ter)
c.196G>A (p.Gly66Arg)
c.687-7933G>A (n.687-7933G>A)
c.1398G>A (p.Trp466Ter)
n.2635G>A
n.995-2436G>A
 gnomAD v4
9g.133436930G>CCA375391829ADAMTS13c.1410G>C (p.Trp470Cys)
c.1317G>C (p.Trp439Cys)
c.666G>C (p.Trp222Cys)
c.*214G>C (n.*214G>C)
n.974-2436G>C
c.*694G>C (n.*694G>C)
n.993-2436G>C
c.1020G>C (p.Trp340Cys)
c.426G>C (p.Trp142Cys)
c.420G>C (p.Trp140Cys)
c.75G>C (p.Trp25Cys)
c.196G>C (p.Gly66Arg)
c.687-7933G>C (n.687-7933G>C)
c.1398G>C (p.Trp466Cys)
n.2635G>C
n.995-2436G>C
 dbSNP gnomAD v3 gnomAD v4
9g.133436930G=CA1882673169ADAMTS13c.1410G= (p.Trp470=)
c.1317G= (p.Trp439=)
c.666G= (p.Trp222=)
c.*214G= (n.*214G=)
n.974-2436G=
c.*694G= (n.*694G=)
n.993-2436G=
c.1020G= (p.Trp340=)
c.426G= (p.Trp142=)
c.420G= (p.Trp140=)
c.75G= (p.Trp25=)
c.196G= (p.Gly66=)
c.687-7933G= (n.687-7933G=)
c.1398G= (p.Trp466=)
n.2635G=
n.995-2436G=
9g.133436930G>TCA375391830ADAMTS13c.1410G>T (p.Trp470Cys)
c.1317G>T (p.Trp439Cys)
c.666G>T (p.Trp222Cys)
c.*214G>T (n.*214G>T)
n.974-2436G>T
c.*694G>T (n.*694G>T)
n.993-2436G>T
c.1020G>T (p.Trp340Cys)
c.426G>T (p.Trp142Cys)
c.420G>T (p.Trp140Cys)
c.75G>T (p.Trp25Cys)
c.196G>T (p.Gly66Trp)
c.687-7933G>T (n.687-7933G>T)
c.1398G>T (p.Trp466Cys)
n.2635G>T
n.995-2436G>T
 gnomAD v4
9g.133436931G>ACA375391834ADAMTS13c.1411G>A (p.Gly471Ser)
c.1318G>A (p.Gly440Ser)
c.667G>A (p.Gly223Ser)
c.*215G>A (n.*215G>A)
n.974-2435G>A
c.*695G>A (n.*695G>A)
n.993-2435G>A
c.1021G>A (p.Gly341Ser)
c.427G>A (p.Gly143Ser)
c.421G>A (p.Gly141Ser)
c.76G>A (p.Gly26Ser)
c.197G>A (p.Gly66Glu)
c.687-7932G>A (n.687-7932G>A)
c.1399G>A (p.Gly467Ser)
n.2636G>A
n.995-2435G>A
9g.133436931G>CCA375391836ADAMTS13c.1411G>C (p.Gly471Arg)
c.1318G>C (p.Gly440Arg)
c.667G>C (p.Gly223Arg)
c.*215G>C (n.*215G>C)
n.974-2435G>C
c.*695G>C (n.*695G>C)
n.993-2435G>C
c.1021G>C (p.Gly341Arg)
c.427G>C (p.Gly143Arg)
c.421G>C (p.Gly141Arg)
c.76G>C (p.Gly26Arg)
c.197G>C (p.Gly66Ala)
c.687-7932G>C (n.687-7932G>C)
c.1399G>C (p.Gly467Arg)
n.2636G>C
n.995-2435G>C
9g.133436931G>TCA375391838ADAMTS13c.1411G>T (p.Gly471Cys)
c.1318G>T (p.Gly440Cys)
c.667G>T (p.Gly223Cys)
c.*215G>T (n.*215G>T)
n.974-2435G>T
c.*695G>T (n.*695G>T)
n.993-2435G>T
c.1021G>T (p.Gly341Cys)
c.427G>T (p.Gly143Cys)
c.421G>T (p.Gly141Cys)
c.76G>T (p.Gly26Cys)
c.197G>T (p.Gly66Val)
c.687-7932G>T (n.687-7932G>T)
c.1399G>T (p.Gly467Cys)
n.2636G>T
n.995-2435G>T
 gnomAD v4
9g.133436932G>ACA375391842ADAMTS13c.1412G>A (p.Gly471Asp)
c.1319G>A (p.Gly440Asp)
c.668G>A (p.Gly223Asp)
c.*216G>A (n.*216G>A)
n.974-2434G>A
c.*696G>A (n.*696G>A)
n.993-2434G>A
c.1022G>A (p.Gly341Asp)
c.428G>A (p.Gly143Asp)
c.422G>A (p.Gly141Asp)
c.77G>A (p.Gly26Asp)
c.198G>A (p.Gly66=)
c.687-7931G>A (n.687-7931G>A)
c.1400G>A (p.Gly467Asp)
n.2637G>A
n.995-2434G>A
 gnomAD v4
9g.133436932G>CCA375391840ADAMTS13c.1412G>C (p.Gly471Ala)
c.1319G>C (p.Gly440Ala)
c.668G>C (p.Gly223Ala)
c.*216G>C (n.*216G>C)
n.974-2434G>C
c.*696G>C (n.*696G>C)
n.993-2434G>C
c.1022G>C (p.Gly341Ala)
c.428G>C (p.Gly143Ala)
c.422G>C (p.Gly141Ala)
c.77G>C (p.Gly26Ala)
c.198G>C (p.Gly66=)
c.687-7931G>C (n.687-7931G>C)
c.1400G>C (p.Gly467Ala)
n.2637G>C
n.995-2434G>C
9g.133436932G=CA1882673170ADAMTS13c.1412G= (p.Gly471=)
c.1319G= (p.Gly440=)
c.668G= (p.Gly223=)
c.*216G= (n.*216G=)
n.974-2434G=
c.*696G= (n.*696G=)
n.993-2434G=
c.1022G= (p.Gly341=)
c.428G= (p.Gly143=)
c.422G= (p.Gly141=)
c.77G= (p.Gly26=)
c.198G= (p.Gly66=)
c.687-7931G= (n.687-7931G=)
c.1400G= (p.Gly467=)
n.2637G=
n.995-2434G=
9g.133436932G>TCA200929705ADAMTS13c.1412G>T (p.Gly471Val)
c.1319G>T (p.Gly440Val)
c.668G>T (p.Gly223Val)
c.*216G>T (n.*216G>T)
n.974-2434G>T
c.*696G>T (n.*696G>T)
n.993-2434G>T
c.1022G>T (p.Gly341Val)
c.428G>T (p.Gly143Val)
c.422G>T (p.Gly141Val)
c.77G>T (p.Gly26Val)
c.198G>T (p.Gly66=)
c.687-7931G>T (n.687-7931G>T)
c.1400G>T (p.Gly467Val)
n.2637G>T
n.995-2434G>T
 dbSNP gnomAD v4
9g.133436933T>CCA1129743557ADAMTS13c.1413T>C (p.Gly471=)
c.1320T>C (p.Gly440=)
c.669T>C (p.Gly223=)
c.*217T>C (n.*217T>C)
n.974-2433T>C
c.*697T>C (n.*697T>C)
n.993-2433T>C
c.1023T>C (p.Gly341=)
c.429T>C (p.Gly143=)
c.423T>C (p.Gly141=)
c.78T>C (p.Gly26=)
c.199T>C (p.Cys67Arg)
c.687-7930T>C (n.687-7930T>C)
c.1401T>C (p.Gly467=)
n.2638T>C
n.995-2433T>C
 dbSNP gnomAD v3 gnomAD v4
9g.133436933T=CA1882673171ADAMTS13c.1413T= (p.Gly471=)
c.1320T= (p.Gly440=)
c.669T= (p.Gly223=)
c.*217T= (n.*217T=)
n.974-2433T=
c.*697T= (n.*697T=)
n.993-2433T=
c.1023T= (p.Gly341=)
c.429T= (p.Gly143=)
c.423T= (p.Gly141=)
c.78T= (p.Gly26=)
c.199T= (p.Cys67=)
c.687-7930T= (n.687-7930T=)
c.1401T= (p.Gly467=)
n.2638T=
n.995-2433T=
9g.133436934G>ACA375391843ADAMTS13c.1414G>A (p.Ala472Thr)
c.1321G>A (p.Ala441Thr)
c.670G>A (p.Ala224Thr)
c.*218G>A (n.*218G>A)
n.974-2432G>A
c.*698G>A (n.*698G>A)
n.993-2432G>A
c.1024G>A (p.Ala342Thr)
c.430G>A (p.Ala144Thr)
c.424G>A (p.Ala142Thr)
c.79G>A (p.Ala27Thr)
c.200G>A (p.Cys67Tyr)
c.687-7929G>A (n.687-7929G>A)
c.1402G>A (p.Ala468Thr)
n.2639G>A
n.995-2432G>A
 dbSNP
9g.133436934G>CCA375391845ADAMTS13c.1414G>C (p.Ala472Pro)
c.1321G>C (p.Ala441Pro)
c.670G>C (p.Ala224Pro)
c.*218G>C (n.*218G>C)
n.974-2432G>C
c.*698G>C (n.*698G>C)
n.993-2432G>C
c.1024G>C (p.Ala342Pro)
c.430G>C (p.Ala144Pro)
c.424G>C (p.Ala142Pro)
c.79G>C (p.Ala27Pro)
c.200G>C (p.Cys67Ser)
c.687-7929G>C (n.687-7929G>C)
c.1402G>C (p.Ala468Pro)
n.2639G>C
n.995-2432G>C
9g.133436934G=CA1882673172ADAMTS13c.1414G= (p.Ala472=)
c.1321G= (p.Ala441=)
c.670G= (p.Ala224=)
c.*218G= (n.*218G=)
n.974-2432G=
c.*698G= (n.*698G=)
n.993-2432G=
c.1024G= (p.Ala342=)
c.430G= (p.Ala144=)
c.424G= (p.Ala142=)
c.79G= (p.Ala27=)
c.200G= (p.Cys67=)
c.687-7929G= (n.687-7929G=)
c.1402G= (p.Ala468=)
n.2639G=
n.995-2432G=
9g.133436934G>TCA375391847ADAMTS13c.1414G>T (p.Ala472Ser)
c.1321G>T (p.Ala441Ser)
c.670G>T (p.Ala224Ser)
c.*218G>T (n.*218G>T)
n.974-2432G>T
c.*698G>T (n.*698G>T)
n.993-2432G>T
c.1024G>T (p.Ala342Ser)
c.430G>T (p.Ala144Ser)
c.424G>T (p.Ala142Ser)
c.79G>T (p.Ala27Ser)
c.200G>T (p.Cys67Phe)
c.687-7929G>T (n.687-7929G>T)
c.1402G>T (p.Ala468Ser)
n.2639G>T
n.995-2432G>T
 gnomAD v4
9g.133436935C>ACA375391848ADAMTS13c.1415C>A (p.Ala472Asp)
c.1322C>A (p.Ala441Asp)
c.671C>A (p.Ala224Asp)
c.*219C>A (n.*219C>A)
n.974-2431C>A
c.*699C>A (n.*699C>A)
n.993-2431C>A
c.1025C>A (p.Ala342Asp)
c.431C>A (p.Ala144Asp)
c.425C>A (p.Ala142Asp)
c.80C>A (p.Ala27Asp)
c.201C>A (p.Cys67Ter)
c.687-7928C>A (n.687-7928C>A)
c.1403C>A (p.Ala468Asp)
n.2640C>A
n.995-2431C>A
 gnomAD v4
9g.133436935C>GCA375391849ADAMTS13c.1415C>G (p.Ala472Gly)
c.1322C>G (p.Ala441Gly)
c.671C>G (p.Ala224Gly)
c.*219C>G (n.*219C>G)
n.974-2431C>G
c.*699C>G (n.*699C>G)
n.993-2431C>G
c.1025C>G (p.Ala342Gly)
c.431C>G (p.Ala144Gly)
c.425C>G (p.Ala142Gly)
c.80C>G (p.Ala27Gly)
c.201C>G (p.Cys67Trp)
c.687-7928C>G (n.687-7928C>G)
c.1403C>G (p.Ala468Gly)
n.2640C>G
n.995-2431C>G
9g.133436935C>TCA375391850ADAMTS13c.1415C>T (p.Ala472Val)
c.1322C>T (p.Ala441Val)
c.671C>T (p.Ala224Val)
c.*219C>T (n.*219C>T)
n.974-2431C>T
c.*699C>T (n.*699C>T)
n.993-2431C>T
c.1025C>T (p.Ala342Val)
c.431C>T (p.Ala144Val)
c.425C>T (p.Ala142Val)
c.80C>T (p.Ala27Val)
c.201C>T (p.Cys67=)
c.687-7928C>T (n.687-7928C>T)
c.1403C>T (p.Ala468Val)
n.2640C>T
n.995-2431C>T
 gnomAD v4
9g.133436936T>CCA2579500383ADAMTS13c.1416T>C (p.Ala472=)
c.1323T>C (p.Ala441=)
c.672T>C (p.Ala224=)
c.*220T>C (n.*220T>C)
n.974-2430T>C
c.*700T>C (n.*700T>C)
n.993-2430T>C
c.1026T>C (p.Ala342=)
c.432T>C (p.Ala144=)
c.426T>C (p.Ala142=)
c.81T>C (p.Ala27=)
c.202T>C (p.Cys68Arg)
c.687-7927T>C (n.687-7927T>C)
c.1404T>C (p.Ala468=)
n.2641T>C
n.995-2430T>C
9g.133436937G>ACA375391852ADAMTS13c.1417G>A (p.Ala473Thr)
c.1324G>A (p.Ala442Thr)
c.673G>A (p.Ala225Thr)
c.*221G>A (n.*221G>A)
n.974-2429G>A
c.*701G>A (n.*701G>A)
n.993-2429G>A
c.1027G>A (p.Ala343Thr)
c.433G>A (p.Ala145Thr)
c.427G>A (p.Ala143Thr)
c.82G>A (p.Ala28Thr)
c.203G>A (p.Cys68Tyr)
c.687-7926G>A (n.687-7926G>A)
c.1405G>A (p.Ala469Thr)
n.2642G>A
n.995-2429G>A
 dbSNP gnomAD v4
9g.133436937G>CCA375391854ADAMTS13c.1417G>C (p.Ala473Pro)
c.1324G>C (p.Ala442Pro)
c.673G>C (p.Ala225Pro)
c.*221G>C (n.*221G>C)
n.974-2429G>C
c.*701G>C (n.*701G>C)
n.993-2429G>C
c.1027G>C (p.Ala343Pro)
c.433G>C (p.Ala145Pro)
c.427G>C (p.Ala143Pro)
c.82G>C (p.Ala28Pro)
c.203G>C (p.Cys68Ser)
c.687-7926G>C (n.687-7926G>C)
c.1405G>C (p.Ala469Pro)
n.2642G>C
n.995-2429G>C
9g.133436937G=CA1882673173ADAMTS13c.1417G= (p.Ala473=)
c.1324G= (p.Ala442=)
c.673G= (p.Ala225=)
c.*221G= (n.*221G=)
n.974-2429G=
c.*701G= (n.*701G=)
n.993-2429G=
c.1027G= (p.Ala343=)
c.433G= (p.Ala145=)
c.427G= (p.Ala143=)
c.82G= (p.Ala28=)
c.203G= (p.Cys68=)
c.687-7926G= (n.687-7926G=)
c.1405G= (p.Ala469=)
n.2642G=
n.995-2429G=
9g.133436937G>TCA375391855ADAMTS13c.1417G>T (p.Ala473Ser)
c.1324G>T (p.Ala442Ser)
c.673G>T (p.Ala225Ser)
c.*221G>T (n.*221G>T)
n.974-2429G>T
c.*701G>T (n.*701G>T)
n.993-2429G>T
c.1027G>T (p.Ala343Ser)
c.433G>T (p.Ala145Ser)
c.427G>T (p.Ala143Ser)
c.82G>T (p.Ala28Ser)
c.203G>T (p.Cys68Phe)
c.687-7926G>T (n.687-7926G>T)
c.1405G>T (p.Ala469Ser)
n.2642G>T
n.995-2429G>T
 gnomAD v4 COSMIC
9g.133436938C>ACA375391856ADAMTS13c.1418C>A (p.Ala473Asp)
c.1325C>A (p.Ala442Asp)
c.674C>A (p.Ala225Asp)
c.*222C>A (n.*222C>A)
n.974-2428C>A
c.*702C>A (n.*702C>A)
n.993-2428C>A
c.1028C>A (p.Ala343Asp)
c.434C>A (p.Ala145Asp)
c.428C>A (p.Ala143Asp)
c.83C>A (p.Ala28Asp)
c.204C>A (p.Cys68Ter)
c.687-7925C>A (n.687-7925C>A)
c.1406C>A (p.Ala469Asp)
n.2643C>A
n.995-2428C>A
 gnomAD v4
9g.133436938C>GCA375391857ADAMTS13c.1418C>G (p.Ala473Gly)
c.1325C>G (p.Ala442Gly)
c.674C>G (p.Ala225Gly)
c.*222C>G (n.*222C>G)
n.974-2428C>G
c.*702C>G (n.*702C>G)
n.993-2428C>G
c.1028C>G (p.Ala343Gly)
c.434C>G (p.Ala145Gly)
c.428C>G (p.Ala143Gly)
c.83C>G (p.Ala28Gly)
c.204C>G (p.Cys68Trp)
c.687-7925C>G (n.687-7925C>G)
c.1406C>G (p.Ala469Gly)
n.2643C>G
n.995-2428C>G
9g.133436938C>TCA375391858ADAMTS13c.1418C>T (p.Ala473Val)
c.1325C>T (p.Ala442Val)
c.674C>T (p.Ala225Val)
c.*222C>T (n.*222C>T)
n.974-2428C>T
c.*702C>T (n.*702C>T)
n.993-2428C>T
c.1028C>T (p.Ala343Val)
c.434C>T (p.Ala145Val)
c.428C>T (p.Ala143Val)
c.83C>T (p.Ala28Val)
c.204C>T (p.Cys68=)
c.687-7925C>T (n.687-7925C>T)
c.1406C>T (p.Ala469Val)
n.2643C>T
n.995-2428C>T
 gnomAD v4
9g.133436939T>CCA2692371456ADAMTS13c.1419T>C (p.Ala473=)
c.1326T>C (p.Ala442=)
c.675T>C (p.Ala225=)
c.*223T>C (n.*223T>C)
n.974-2427T>C
c.*703T>C (n.*703T>C)
n.993-2427T>C
c.1029T>C (p.Ala343=)
c.435T>C (p.Ala145=)
c.429T>C (p.Ala143=)
c.84T>C (p.Ala28=)
c.205T>C (p.Cys69Arg)
c.687-7924T>C (n.687-7924T>C)
c.1407T>C (p.Ala469=)
n.2644T>C
n.995-2427T>C
 gnomAD v4
9g.133436940G>ACA375391865ADAMTS13c.1420G>A (p.Val474Ile)
c.1327G>A (p.Val443Ile)
c.676G>A (p.Val226Ile)
c.*224G>A (n.*224G>A)
n.974-2426G>A
c.*704G>A (n.*704G>A)
n.993-2426G>A
c.1030G>A (p.Val344Ile)
c.436G>A (p.Val146Ile)
c.430G>A (p.Val144Ile)
c.85G>A (p.Val29Ile)
c.206G>A (p.Cys69Tyr)
c.687-7923G>A (n.687-7923G>A)
c.1408G>A (p.Val470Ile)
n.2645G>A
n.995-2426G>A
 dbSNP gnomAD v4
9g.133436940G>CCA375391863ADAMTS13c.1420G>C (p.Val474Leu)
c.1327G>C (p.Val443Leu)
c.676G>C (p.Val226Leu)
c.*224G>C (n.*224G>C)
n.974-2426G>C
c.*704G>C (n.*704G>C)
n.993-2426G>C
c.1030G>C (p.Val344Leu)
c.436G>C (p.Val146Leu)
c.430G>C (p.Val144Leu)
c.85G>C (p.Val29Leu)
c.206G>C (p.Cys69Ser)
c.687-7923G>C (n.687-7923G>C)
c.1408G>C (p.Val470Leu)
n.2645G>C
n.995-2426G>C
9g.133436940G=CA1882673174ADAMTS13c.1420G= (p.Val474=)
c.1327G= (p.Val443=)
c.676G= (p.Val226=)
c.*224G= (n.*224G=)
n.974-2426G=
c.*704G= (n.*704G=)
n.993-2426G=
c.1030G= (p.Val344=)
c.436G= (p.Val146=)
c.430G= (p.Val144=)
c.85G= (p.Val29=)
c.206G= (p.Cys69=)
c.687-7923G= (n.687-7923G=)
c.1408G= (p.Val470=)
n.2645G=
n.995-2426G=
9g.133436940G>TCA375391861ADAMTS13c.1420G>T (p.Val474Leu)
c.1327G>T (p.Val443Leu)
c.676G>T (p.Val226Leu)
c.*224G>T (n.*224G>T)
n.974-2426G>T
c.*704G>T (n.*704G>T)
n.993-2426G>T
c.1030G>T (p.Val344Leu)
c.436G>T (p.Val146Leu)
c.430G>T (p.Val144Leu)
c.85G>T (p.Val29Leu)
c.206G>T (p.Cys69Phe)
c.687-7923G>T (n.687-7923G>T)
c.1408G>T (p.Val470Leu)
n.2645G>T
n.995-2426G>T
 gnomAD v4
9g.133436941T>ACA375391866ADAMTS13c.1421T>A (p.Val474Glu)
c.1328T>A (p.Val443Glu)
c.677T>A (p.Val226Glu)
c.*225T>A (n.*225T>A)
n.974-2425T>A
c.*705T>A (n.*705T>A)
n.993-2425T>A
c.1031T>A (p.Val344Glu)
c.437T>A (p.Val146Glu)
c.431T>A (p.Val144Glu)
c.86T>A (p.Val29Glu)
c.207T>A (p.Cys69Ter)
c.687-7922T>A (n.687-7922T>A)
c.1409T>A (p.Val470Glu)
n.2646T>A
n.995-2425T>A
 COSMIC
9g.133436941T>CCA375391868ADAMTS13c.1421T>C (p.Val474Ala)
c.1328T>C (p.Val443Ala)
c.677T>C (p.Val226Ala)
c.*225T>C (n.*225T>C)
n.974-2425T>C
c.*705T>C (n.*705T>C)
n.993-2425T>C
c.1031T>C (p.Val344Ala)
c.437T>C (p.Val146Ala)
c.431T>C (p.Val144Ala)
c.86T>C (p.Val29Ala)
c.207T>C (p.Cys69=)
c.687-7922T>C (n.687-7922T>C)
c.1409T>C (p.Val470Ala)
n.2646T>C
n.995-2425T>C
9g.133436941T>GCA375391870ADAMTS13c.1421T>G (p.Val474Gly)
c.1328T>G (p.Val443Gly)
c.677T>G (p.Val226Gly)
c.*225T>G (n.*225T>G)
n.974-2425T>G
c.*705T>G (n.*705T>G)
n.993-2425T>G
c.1031T>G (p.Val344Gly)
c.437T>G (p.Val146Gly)
c.431T>G (p.Val144Gly)
c.86T>G (p.Val29Gly)
c.207T>G (p.Cys69Trp)
c.687-7922T>G (n.687-7922T>G)
c.1409T>G (p.Val470Gly)
n.2646T>G
n.995-2425T>G
9g.133436943C>ACA375391872ADAMTS13c.1423C>A (p.Pro475Thr)
c.1330C>A (p.Pro444Thr)
c.679C>A (p.Pro227Thr)
c.*227C>A (n.*227C>A)
n.974-2423C>A
c.*707C>A (n.*707C>A)
n.993-2423C>A
c.1033C>A (p.Pro345Thr)
c.439C>A (p.Pro147Thr)
c.433C>A (p.Pro145Thr)
c.88C>A (p.Pro30Thr)
c.209C>A (p.Thr70Asn)
c.687-7920C>A (n.687-7920C>A)
c.1411C>A (p.Pro471Thr)
n.2648C>A
n.995-2423C>A
 gnomAD v4
9g.133436943C=CA1882673175ADAMTS13c.1423C= (p.Pro475=)
c.1330C= (p.Pro444=)
c.679C= (p.Pro227=)
c.*227C= (n.*227C=)
n.974-2423C=
c.*707C= (n.*707C=)
n.993-2423C=
c.1033C= (p.Pro345=)
c.439C= (p.Pro147=)
c.433C= (p.Pro145=)
c.88C= (p.Pro30=)
c.209C= (p.Thr70=)
c.687-7920C= (n.687-7920C=)
c.1411C= (p.Pro471=)
n.2648C=
n.995-2423C=
9g.133436943C>GCA375391874ADAMTS13c.1423C>G (p.Pro475Ala)
c.1330C>G (p.Pro444Ala)
c.679C>G (p.Pro227Ala)
c.*227C>G (n.*227C>G)
n.974-2423C>G
c.*707C>G (n.*707C>G)
n.993-2423C>G
c.1033C>G (p.Pro345Ala)
c.439C>G (p.Pro147Ala)
c.433C>G (p.Pro145Ala)
c.88C>G (p.Pro30Ala)
c.209C>G (p.Thr70Ser)
c.687-7920C>G (n.687-7920C>G)
c.1411C>G (p.Pro471Ala)
n.2648C>G
n.995-2423C>G
9g.133436943C>TCA117779ADAMTS13c.1423C>T (p.Pro475Ser)
c.1330C>T (p.Pro444Ser)
c.679C>T (p.Pro227Ser)
c.*227C>T (n.*227C>T)
n.974-2423C>T
c.*707C>T (n.*707C>T)
n.993-2423C>T
c.1033C>T (p.Pro345Ser)
c.439C>T (p.Pro147Ser)
c.433C>T (p.Pro145Ser)
c.88C>T (p.Pro30Ser)
c.209C>T (p.Thr70Ile)
c.687-7920C>T (n.687-7920C>T)
c.1411C>T (p.Pro471Ser)
n.2648C>T
n.995-2423C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.133436944C>ACA375391877ADAMTS13c.1424C>A (p.Pro475Gln)
c.1331C>A (p.Pro444Gln)
c.680C>A (p.Pro227Gln)
c.*228C>A (n.*228C>A)
n.974-2422C>A
c.*708C>A (n.*708C>A)
n.993-2422C>A
c.1034C>A (p.Pro345Gln)
c.440C>A (p.Pro147Gln)
c.434C>A (p.Pro145Gln)
c.89C>A (p.Pro30Gln)
c.210C>A (p.Thr70=)
c.687-7919C>A (n.687-7919C>A)
c.1412C>A (p.Pro471Gln)
n.2649C>A
n.995-2422C>A
 gnomAD v4
9g.133436944C>GCA375391879ADAMTS13c.1424C>G (p.Pro475Arg)
c.1331C>G (p.Pro444Arg)
c.680C>G (p.Pro227Arg)
c.*228C>G (n.*228C>G)
n.974-2422C>G
c.*708C>G (n.*708C>G)
n.993-2422C>G
c.1034C>G (p.Pro345Arg)
c.440C>G (p.Pro147Arg)
c.434C>G (p.Pro145Arg)
c.89C>G (p.Pro30Arg)
c.210C>G (p.Thr70=)
c.687-7919C>G (n.687-7919C>G)
c.1412C>G (p.Pro471Arg)
n.2649C>G
n.995-2422C>G
9g.133436944C>TCA375391880ADAMTS13c.1424C>T (p.Pro475Leu)
c.1331C>T (p.Pro444Leu)
c.680C>T (p.Pro227Leu)
c.*228C>T (n.*228C>T)
n.974-2422C>T
c.*708C>T (n.*708C>T)
n.993-2422C>T
c.1034C>T (p.Pro345Leu)
c.440C>T (p.Pro147Leu)
c.434C>T (p.Pro145Leu)
c.89C>T (p.Pro30Leu)
c.210C>T (p.Thr70=)
c.687-7919C>T (n.687-7919C>T)
c.1412C>T (p.Pro471Leu)
n.2649C>T
n.995-2422C>T
 gnomAD v4
9g.133436945A>CCA2692371479ADAMTS13c.1425A>C (p.Pro475=)
c.1332A>C (p.Pro444=)
c.681A>C (p.Pro227=)
c.*229A>C (n.*229A>C)
n.974-2421A>C
c.*709A>C (n.*709A>C)
n.993-2421A>C
c.1035A>C (p.Pro345=)
c.441A>C (p.Pro147=)
c.435A>C (p.Pro145=)
c.90A>C (p.Pro30=)
c.211A>C (p.Thr71Pro)
c.687-7918A>C (n.687-7918A>C)
c.1413A>C (p.Pro471=)
n.2650A>C
n.995-2421A>C
 dbSNP gnomAD v4
9g.133436945A>GCA2692371480ADAMTS13c.1425A>G (p.Pro475=)
c.1332A>G (p.Pro444=)
c.681A>G (p.Pro227=)
c.*229A>G (n.*229A>G)
n.974-2421A>G
c.*709A>G (n.*709A>G)
n.993-2421A>G
c.1035A>G (p.Pro345=)
c.441A>G (p.Pro147=)
c.435A>G (p.Pro145=)
c.90A>G (p.Pro30=)
c.211A>G (p.Thr71Ala)
c.687-7918A>G (n.687-7918A>G)
c.1413A>G (p.Pro471=)
n.2650A>G
n.995-2421A>G
 gnomAD v4
9g.133436945A>TCA2692371481ADAMTS13c.1425A>T (p.Pro475=)
c.1332A>T (p.Pro444=)
c.681A>T (p.Pro227=)
c.*229A>T (n.*229A>T)
n.974-2421A>T
c.*709A>T (n.*709A>T)
n.993-2421A>T
c.1035A>T (p.Pro345=)
c.441A>T (p.Pro147=)
c.435A>T (p.Pro145=)
c.90A>T (p.Pro30=)
c.211A>T (p.Thr71Ser)
c.687-7918A>T (n.687-7918A>T)
c.1413A>T (p.Pro471=)
n.2650A>T
n.995-2421A>T
 gnomAD v4
9g.133436946C>ACA375391882ADAMTS13c.1426C>A (p.His476Asn)
c.1333C>A (p.His445Asn)
c.682C>A (p.His228Asn)
c.*230C>A (n.*230C>A)
n.974-2420C>A
c.*710C>A (n.*710C>A)
n.993-2420C>A
c.1036C>A (p.His346Asn)
c.442C>A (p.His148Asn)
c.436C>A (p.His146Asn)
c.91C>A (p.His31Asn)
c.212C>A (p.Thr71Lys)
c.687-7917C>A (n.687-7917C>A)
c.1414C>A (p.His472Asn)
n.2651C>A
n.995-2420C>A
 gnomAD v4
9g.133436946C=CA1882673176ADAMTS13c.1426C= (p.His476=)
c.1333C= (p.His445=)
c.682C= (p.His228=)
c.*230C= (n.*230C=)
n.974-2420C=
c.*710C= (n.*710C=)
n.993-2420C=
c.1036C= (p.His346=)
c.442C= (p.His148=)
c.436C= (p.His146=)
c.91C= (p.His31=)
c.212C= (p.Thr71=)
c.687-7917C= (n.687-7917C=)
c.1414C= (p.His472=)
n.2651C=
n.995-2420C=
9g.133436946C>GCA375391884ADAMTS13c.1426C>G (p.His476Asp)
c.1333C>G (p.His445Asp)
c.682C>G (p.His228Asp)
c.*230C>G (n.*230C>G)
n.974-2420C>G
c.*710C>G (n.*710C>G)
n.993-2420C>G
c.1036C>G (p.His346Asp)
c.442C>G (p.His148Asp)
c.436C>G (p.His146Asp)
c.91C>G (p.His31Asp)
c.212C>G (p.Thr71Arg)
c.687-7917C>G (n.687-7917C>G)
c.1414C>G (p.His472Asp)
n.2651C>G
n.995-2420C>G
9g.133436946C>TCA375391886ADAMTS13c.1426C>T (p.His476Tyr)
c.1333C>T (p.His445Tyr)
c.682C>T (p.His228Tyr)
c.*230C>T (n.*230C>T)
n.974-2420C>T
c.*710C>T (n.*710C>T)
n.993-2420C>T
c.1036C>T (p.His346Tyr)
c.442C>T (p.His148Tyr)
c.436C>T (p.His146Tyr)
c.91C>T (p.His31Tyr)
c.212C>T (p.Thr71Ile)
c.687-7917C>T (n.687-7917C>T)
c.1414C>T (p.His472Tyr)
n.2651C>T
n.995-2420C>T
 dbSNP gnomAD v4
9g.133436947A=CA1882673177ADAMTS13c.1427A= (p.His476=)
c.1334A= (p.His445=)
c.683A= (p.His228=)
c.*231A= (n.*231A=)
n.974-2419A=
c.*711A= (n.*711A=)
n.993-2419A=
c.1037A= (p.His346=)
c.443A= (p.His148=)
c.437A= (p.His146=)
c.92A= (p.His31=)
c.213A= (p.Thr71=)
c.687-7916A= (n.687-7916A=)
c.1415A= (p.His472=)
n.2652A=
n.995-2419A=
9g.133436947A>CCA375391891ADAMTS13c.1427A>C (p.His476Pro)
c.1334A>C (p.His445Pro)
c.683A>C (p.His228Pro)
c.*231A>C (n.*231A>C)
n.974-2419A>C
c.*711A>C (n.*711A>C)
n.993-2419A>C
c.1037A>C (p.His346Pro)
c.443A>C (p.His148Pro)
c.437A>C (p.His146Pro)
c.92A>C (p.His31Pro)
c.213A>C (p.Thr71=)
c.687-7916A>C (n.687-7916A>C)
c.1415A>C (p.His472Pro)
n.2652A>C
n.995-2419A>C
9g.133436947A>GCA200929706ADAMTS13c.1427A>G (p.His476Arg)
c.1334A>G (p.His445Arg)
c.683A>G (p.His228Arg)
c.*231A>G (n.*231A>G)
n.974-2419A>G
c.*711A>G (n.*711A>G)
n.993-2419A>G
c.1037A>G (p.His346Arg)
c.443A>G (p.His148Arg)
c.437A>G (p.His146Arg)
c.92A>G (p.His31Arg)
c.213A>G (p.Thr71=)
c.687-7916A>G (n.687-7916A>G)
c.1415A>G (p.His472Arg)
n.2652A>G
n.995-2419A>G
 dbSNP gnomAD v4
9g.133436947A>TCA375391888ADAMTS13c.1427A>T (p.His476Leu)
c.1334A>T (p.His445Leu)
c.683A>T (p.His228Leu)
c.*231A>T (n.*231A>T)
n.974-2419A>T
c.*711A>T (n.*711A>T)
n.993-2419A>T
c.1037A>T (p.His346Leu)
c.443A>T (p.His148Leu)
c.437A>T (p.His146Leu)
c.92A>T (p.His31Leu)
c.213A>T (p.Thr71=)
c.687-7916A>T (n.687-7916A>T)
c.1415A>T (p.His472Leu)
n.2652A>T
n.995-2419A>T
9g.133436948C>ACA375391893ADAMTS13c.1428C>A (p.His476Gln)
c.1335C>A (p.His445Gln)
c.684C>A (p.His228Gln)
c.*232C>A (n.*232C>A)
n.974-2418C>A
c.*712C>A (n.*712C>A)
n.993-2418C>A
c.1038C>A (p.His346Gln)
c.444C>A (p.His148Gln)
c.438C>A (p.His146Gln)
c.93C>A (p.His31Gln)
c.214C>A (p.Gln72Lys)
c.687-7915C>A (n.687-7915C>A)
c.1416C>A (p.His472Gln)
n.2653C>A
n.995-2418C>A
9g.133436948C=CA1882673178ADAMTS13c.1428C= (p.His476=)
c.1335C= (p.His445=)
c.684C= (p.His228=)
c.*232C= (n.*232C=)
n.974-2418C=
c.*712C= (n.*712C=)
n.993-2418C=
c.1038C= (p.His346=)
c.444C= (p.His148=)
c.438C= (p.His146=)
c.93C= (p.His31=)
c.214C= (p.Gln72=)
c.687-7915C= (n.687-7915C=)
c.1416C= (p.His472=)
n.2653C=
n.995-2418C=
9g.133436948C>GCA375391896ADAMTS13c.1428C>G (p.His476Gln)
c.1335C>G (p.His445Gln)
c.684C>G (p.His228Gln)
c.*232C>G (n.*232C>G)
n.974-2418C>G
c.*712C>G (n.*712C>G)
n.993-2418C>G
c.1038C>G (p.His346Gln)
c.444C>G (p.His148Gln)
c.438C>G (p.His146Gln)
c.93C>G (p.His31Gln)
c.214C>G (p.Gln72Glu)
c.687-7915C>G (n.687-7915C>G)
c.1416C>G (p.His472Gln)
n.2653C>G
n.995-2418C>G
 gnomAD v4
9g.133436948C>TCA200929710ADAMTS13c.1428C>T (p.His476=)
c.1335C>T (p.His445=)
c.684C>T (p.His228=)
c.*232C>T (n.*232C>T)
n.974-2418C>T
c.*712C>T (n.*712C>T)
n.993-2418C>T
c.1038C>T (p.His346=)
c.444C>T (p.His148=)
c.438C>T (p.His146=)
c.93C>T (p.His31=)
c.214C>T (p.Gln72Ter)
c.687-7915C>T (n.687-7915C>T)
c.1416C>T (p.His472=)
n.2653C>T
n.995-2418C>T
 dbSNP gnomAD v4
9g.133436949A=CA1882673179ADAMTS13c.1429A= (p.Ser477=)
c.1336A= (p.Ser446=)
c.685A= (p.Ser229=)
c.*233A= (n.*233A=)
n.974-2417A=
c.*713A= (n.*713A=)
n.993-2417A=
c.1039A= (p.Ser347=)
c.445A= (p.Ser149=)
c.439A= (p.Ser147=)
c.94A= (p.Ser32=)
c.215A= (p.Gln72=)
c.687-7914A= (n.687-7914A=)
c.1417A= (p.Ser473=)
n.2654A=
n.995-2417A=
9g.133436949A>CCA375391899ADAMTS13c.1429A>C (p.Ser477Arg)
c.1336A>C (p.Ser446Arg)
c.685A>C (p.Ser229Arg)
c.*233A>C (n.*233A>C)
n.974-2417A>C
c.*713A>C (n.*713A>C)
n.993-2417A>C
c.1039A>C (p.Ser347Arg)
c.445A>C (p.Ser149Arg)
c.439A>C (p.Ser147Arg)
c.94A>C (p.Ser32Arg)
c.215A>C (p.Gln72Pro)
c.687-7914A>C (n.687-7914A>C)
c.1417A>C (p.Ser473Arg)
n.2654A>C
n.995-2417A>C
9g.133436949A>GCA375391901ADAMTS13c.1429A>G (p.Ser477Gly)
c.1336A>G (p.Ser446Gly)
c.685A>G (p.Ser229Gly)
c.*233A>G (n.*233A>G)
n.974-2417A>G
c.*713A>G (n.*713A>G)
n.993-2417A>G
c.1039A>G (p.Ser347Gly)
c.445A>G (p.Ser149Gly)
c.439A>G (p.Ser147Gly)
c.94A>G (p.Ser32Gly)
c.215A>G (p.Gln72Arg)
c.687-7914A>G (n.687-7914A>G)
c.1417A>G (p.Ser473Gly)
n.2654A>G
n.995-2417A>G
 dbSNP gnomAD v4 COSMIC
9g.133436949A>TCA375391900ADAMTS13c.1429A>T (p.Ser477Cys)
c.1336A>T (p.Ser446Cys)
c.685A>T (p.Ser229Cys)
c.*233A>T (n.*233A>T)
n.974-2417A>T
c.*713A>T (n.*713A>T)
n.993-2417A>T
c.1039A>T (p.Ser347Cys)
c.445A>T (p.Ser149Cys)
c.439A>T (p.Ser147Cys)
c.94A>T (p.Ser32Cys)
c.215A>T (p.Gln72Leu)
c.687-7914A>T (n.687-7914A>T)
c.1417A>T (p.Ser473Cys)
n.2654A>T
n.995-2417A>T
9g.133436950G>ACA375391903ADAMTS13c.1430G>A (p.Ser477Asn)
c.1337G>A (p.Ser446Asn)
c.686G>A (p.Ser229Asn)
c.*234G>A (n.*234G>A)
n.974-2416G>A
c.*714G>A (n.*714G>A)
n.993-2416G>A
c.1040G>A (p.Ser347Asn)
c.446G>A (p.Ser149Asn)
c.440G>A (p.Ser147Asn)
c.95G>A (p.Ser32Asn)
c.216G>A (p.Gln72=)
c.687-7913G>A (n.687-7913G>A)
c.1418G>A (p.Ser473Asn)
n.2655G>A
n.995-2416G>A
 gnomAD v4
9g.133436950G>CCA375391904ADAMTS13c.1430G>C (p.Ser477Thr)
c.1337G>C (p.Ser446Thr)
c.686G>C (p.Ser229Thr)
c.*234G>C (n.*234G>C)
n.974-2416G>C
c.*714G>C (n.*714G>C)
n.993-2416G>C
c.1040G>C (p.Ser347Thr)
c.446G>C (p.Ser149Thr)
c.440G>C (p.Ser147Thr)
c.95G>C (p.Ser32Thr)
c.216G>C (p.Gln72His)
c.687-7913G>C (n.687-7913G>C)
c.1418G>C (p.Ser473Thr)
n.2655G>C
n.995-2416G>C
9g.133436950G>TCA375391905ADAMTS13c.1430G>T (p.Ser477Ile)
c.1337G>T (p.Ser446Ile)
c.686G>T (p.Ser229Ile)
c.*234G>T (n.*234G>T)
n.974-2416G>T
c.*714G>T (n.*714G>T)
n.993-2416G>T
c.1040G>T (p.Ser347Ile)
c.446G>T (p.Ser149Ile)
c.440G>T (p.Ser147Ile)
c.95G>T (p.Ser32Ile)
c.216G>T (p.Gln72His)
c.687-7913G>T (n.687-7913G>T)
c.1418G>T (p.Ser473Ile)
n.2655G>T
n.995-2416G>T
 gnomAD v4
9g.133436951C>ACA375391907ADAMTS13c.1431C>A (p.Ser477Arg)
c.1338C>A (p.Ser446Arg)
c.687C>A (p.Ser229Arg)
c.*235C>A (n.*235C>A)
n.974-2415C>A
c.*715C>A (n.*715C>A)
n.993-2415C>A
c.1041C>A (p.Ser347Arg)
c.447C>A (p.Ser149Arg)
c.441C>A (p.Ser147Arg)
c.96C>A (p.Ser32Arg)
c.217C>A (p.Pro73Thr)
c.687-7912C>A (n.687-7912C>A)
c.1419C>A (p.Ser473Arg)
n.2656C>A
n.995-2415C>A
 gnomAD v4
9g.133436951C>GCA375391908ADAMTS13c.1431C>G (p.Ser477Arg)
c.1338C>G (p.Ser446Arg)
c.687C>G (p.Ser229Arg)
c.*235C>G (n.*235C>G)
n.974-2415C>G
c.*715C>G (n.*715C>G)
n.993-2415C>G
c.1041C>G (p.Ser347Arg)
c.447C>G (p.Ser149Arg)
c.441C>G (p.Ser147Arg)
c.96C>G (p.Ser32Arg)
c.217C>G (p.Pro73Ala)
c.687-7912C>G (n.687-7912C>G)
c.1419C>G (p.Ser473Arg)
n.2656C>G
n.995-2415C>G
9g.133436951C>TCA2692371503ADAMTS13c.1431C>T (p.Ser477=)
c.1338C>T (p.Ser446=)
c.687C>T (p.Ser229=)
c.*235C>T (n.*235C>T)
n.974-2415C>T
c.*715C>T (n.*715C>T)
n.993-2415C>T
c.1041C>T (p.Ser347=)
c.447C>T (p.Ser149=)
c.441C>T (p.Ser147=)
c.96C>T (p.Ser32=)
c.217C>T (p.Pro73Ser)
c.687-7912C>T (n.687-7912C>T)
c.1419C>T (p.Ser473=)
n.2656C>T
n.995-2415C>T
 gnomAD v4
9g.133436952C>ACA375391910ADAMTS13c.1432C>A (p.Gln478Lys)
c.1339C>A (p.Gln447Lys)
c.688C>A (p.Gln230Lys)
c.*236C>A (n.*236C>A)
n.974-2414C>A
c.*716C>A (n.*716C>A)
n.993-2414C>A
c.1042C>A (p.Gln348Lys)
c.448C>A (p.Gln150Lys)
c.442C>A (p.Gln148Lys)
c.97C>A (p.Gln33Lys)
c.218C>A (p.Pro73Gln)
c.687-7911C>A (n.687-7911C>A)
c.1420C>A (p.Gln474Lys)
n.2657C>A
n.995-2414C>A
 gnomAD v4
9g.133436952C=CA1882673180ADAMTS13c.1432C= (p.Gln478=)
c.1339C= (p.Gln447=)
c.688C= (p.Gln230=)
c.*236C= (n.*236C=)
n.974-2414C=
c.*716C= (n.*716C=)
n.993-2414C=
c.1042C= (p.Gln348=)
c.448C= (p.Gln150=)
c.442C= (p.Gln148=)
c.97C= (p.Gln33=)
c.218C= (p.Pro73=)
c.687-7911C= (n.687-7911C=)
c.1420C= (p.Gln474=)
n.2657C=
n.995-2414C=
9g.133436952C>GCA375391912ADAMTS13c.1432C>G (p.Gln478Glu)
c.1339C>G (p.Gln447Glu)
c.688C>G (p.Gln230Glu)
c.*236C>G (n.*236C>G)
n.974-2414C>G
c.*716C>G (n.*716C>G)
n.993-2414C>G
c.1042C>G (p.Gln348Glu)
c.448C>G (p.Gln150Glu)
c.442C>G (p.Gln148Glu)
c.97C>G (p.Gln33Glu)
c.218C>G (p.Pro73Arg)
c.687-7911C>G (n.687-7911C>G)
c.1420C>G (p.Gln474Glu)
n.2657C>G
n.995-2414C>G
 ClinVar dbSNP gnomAD v4
9g.133436952C>TCA375391914ADAMTS13c.1432C>T (p.Gln478Ter)
c.1339C>T (p.Gln447Ter)
c.688C>T (p.Gln230Ter)
c.*236C>T (n.*236C>T)
n.974-2414C>T
c.*716C>T (n.*716C>T)
n.993-2414C>T
c.1042C>T (p.Gln348Ter)
c.448C>T (p.Gln150Ter)
c.442C>T (p.Gln148Ter)
c.97C>T (p.Gln33Ter)
c.218C>T (p.Pro73Leu)
c.687-7911C>T (n.687-7911C>T)
c.1420C>T (p.Gln474Ter)
n.2657C>T
n.995-2414C>T
 gnomAD v4
9g.133436953A=CA1882673181ADAMTS13c.1433A= (p.Gln478=)
c.1340A= (p.Gln447=)
c.689A= (p.Gln230=)
c.*237A= (n.*237A=)
n.974-2413A=
c.*717A= (n.*717A=)
n.993-2413A=
c.1043A= (p.Gln348=)
c.449A= (p.Gln150=)
c.443A= (p.Gln148=)
c.98A= (p.Gln33=)
c.219A= (p.Pro73=)
c.687-7910A= (n.687-7910A=)
c.1421A= (p.Gln474=)
n.2658A=
n.995-2413A=
9g.133436953A>CCA375391916ADAMTS13c.1433A>C (p.Gln478Pro)
c.1340A>C (p.Gln447Pro)
c.689A>C (p.Gln230Pro)
c.*237A>C (n.*237A>C)
n.974-2413A>C
c.*717A>C (n.*717A>C)
n.993-2413A>C
c.1043A>C (p.Gln348Pro)
c.449A>C (p.Gln150Pro)
c.443A>C (p.Gln148Pro)
c.98A>C (p.Gln33Pro)
c.219A>C (p.Pro73=)
c.687-7910A>C (n.687-7910A>C)
c.1421A>C (p.Gln474Pro)
n.2658A>C
n.995-2413A>C
9g.133436953A>GCA375391918ADAMTS13c.1433A>G (p.Gln478Arg)
c.1340A>G (p.Gln447Arg)
c.689A>G (p.Gln230Arg)
c.*237A>G (n.*237A>G)
n.974-2413A>G
c.*717A>G (n.*717A>G)
n.993-2413A>G
c.1043A>G (p.Gln348Arg)
c.449A>G (p.Gln150Arg)
c.443A>G (p.Gln148Arg)
c.98A>G (p.Gln33Arg)
c.219A>G (p.Pro73=)
c.687-7910A>G (n.687-7910A>G)
c.1421A>G (p.Gln474Arg)
n.2658A>G
n.995-2413A>G
 dbSNP gnomAD v3 gnomAD v4
9g.133436953A>TCA375391920ADAMTS13c.1433A>T (p.Gln478Leu)
c.1340A>T (p.Gln447Leu)
c.689A>T (p.Gln230Leu)
c.*237A>T (n.*237A>T)
n.974-2413A>T
c.*717A>T (n.*717A>T)
n.993-2413A>T
c.1043A>T (p.Gln348Leu)
c.449A>T (p.Gln150Leu)
c.443A>T (p.Gln148Leu)
c.98A>T (p.Gln33Leu)
c.219A>T (p.Pro73=)
c.687-7910A>T (n.687-7910A>T)
c.1421A>T (p.Gln474Leu)
n.2658A>T
n.995-2413A>T
9g.133436954A=CA1882673182ADAMTS13c.1434A= (p.Gln478=)
c.1341A= (p.Gln447=)
c.690A= (p.Gln230=)
c.*238A= (n.*238A=)
n.974-2412A=
c.*718A= (n.*718A=)
n.993-2412A=
c.1044A= (p.Gln348=)
c.450A= (p.Gln150=)
c.444A= (p.Gln148=)
c.99A= (p.Gln33=)
c.220A= (p.Arg74=)
c.687-7909A= (n.687-7909A=)
c.1422A= (p.Gln474=)
n.2659A=
n.995-2412A=
9g.133436954A>CCA375391922ADAMTS13c.1434A>C (p.Gln478His)
c.1341A>C (p.Gln447His)
c.690A>C (p.Gln230His)
c.*238A>C (n.*238A>C)
n.974-2412A>C
c.*718A>C (n.*718A>C)
n.993-2412A>C
c.1044A>C (p.Gln348His)
c.450A>C (p.Gln150His)
c.444A>C (p.Gln148His)
c.99A>C (p.Gln33His)
c.220A>C (p.Arg74=)
c.687-7909A>C (n.687-7909A>C)
c.1422A>C (p.Gln474His)
n.2659A>C
n.995-2412A>C
9g.133436954A>TCA375391924ADAMTS13c.1434A>T (p.Gln478His)
c.1341A>T (p.Gln447His)
c.690A>T (p.Gln230His)
c.*238A>T (n.*238A>T)
n.974-2412A>T
c.*718A>T (n.*718A>T)
n.993-2412A>T
c.1044A>T (p.Gln348His)
c.450A>T (p.Gln150His)
c.444A>T (p.Gln148His)
c.99A>T (p.Gln33His)
c.220A>T (p.Arg74Trp)
c.687-7909A>T (n.687-7909A>T)
c.1422A>T (p.Gln474His)
n.2659A>T
n.995-2412A>T
9g.133436955G>ACA375391930ADAMTS13c.1435G>A (p.Gly479Arg)
c.1342G>A (p.Gly448Arg)
c.691G>A (p.Gly231Arg)
c.*239G>A (n.*239G>A)
n.974-2411G>A
c.*719G>A (n.*719G>A)
n.993-2411G>A
c.1045G>A (p.Gly349Arg)
c.451G>A (p.Gly151Arg)
c.445G>A (p.Gly149Arg)
c.100G>A (p.Gly34Arg)
c.221G>A (p.Arg74Lys)
c.687-7908G>A (n.687-7908G>A)
c.1423G>A (p.Gly475Arg)
n.2660G>A
n.995-2411G>A
 dbSNP gnomAD v4
9g.133436955G>CCA375391929ADAMTS13c.1435G>C (p.Gly479Arg)
c.1342G>C (p.Gly448Arg)
c.691G>C (p.Gly231Arg)
c.*239G>C (n.*239G>C)
n.974-2411G>C
c.*719G>C (n.*719G>C)
n.993-2411G>C
c.1045G>C (p.Gly349Arg)
c.451G>C (p.Gly151Arg)
c.445G>C (p.Gly149Arg)
c.100G>C (p.Gly34Arg)
c.221G>C (p.Arg74Thr)
c.687-7908G>C (n.687-7908G>C)
c.1423G>C (p.Gly475Arg)
n.2660G>C
n.995-2411G>C
9g.133436955G=CA1882673183ADAMTS13c.1435G= (p.Gly479=)
c.1342G= (p.Gly448=)
c.691G= (p.Gly231=)
c.*239G= (n.*239G=)
n.974-2411G=
c.*719G= (n.*719G=)
n.993-2411G=
c.1045G= (p.Gly349=)
c.451G= (p.Gly151=)
c.445G= (p.Gly149=)
c.100G= (p.Gly34=)
c.221G= (p.Arg74=)
c.687-7908G= (n.687-7908G=)
c.1423G= (p.Gly475=)
n.2660G=
n.995-2411G=
9g.133436955G>TCA375391927ADAMTS13c.1435G>T (p.Gly479Trp)
c.1342G>T (p.Gly448Trp)
c.691G>T (p.Gly231Trp)
c.*239G>T (n.*239G>T)
n.974-2411G>T
c.*719G>T (n.*719G>T)
n.993-2411G>T
c.1045G>T (p.Gly349Trp)
c.451G>T (p.Gly151Trp)
c.445G>T (p.Gly149Trp)
c.100G>T (p.Gly34Trp)
c.221G>T (p.Arg74Met)
c.687-7908G>T (n.687-7908G>T)
c.1423G>T (p.Gly475Trp)
n.2660G>T
n.995-2411G>T
 gnomAD v4 COSMIC
9g.133436956dupCA200929716ADAMTS13c.1435+1dup
c.1342+1dup
c.691+1dup
c.*239+1dup
n.974-2410dup
c.*719+1dup
n.993-2410dup
c.1045+1dup
c.451+1dup
c.445+1dup
c.100+1dup
c.221+1dup
c.687-7907dup (n.687-7907dup)
c.1423+1dup
n.2660+1dup
n.995-2410dup
 dbSNP gnomAD v4
9g.133436956G>ACA375391932ADAMTS13c.1435+1G>A (n.1435+1G>A)
c.1342+1G>A (n.1342+1G>A)
c.691+1G>A (n.691+1G>A)
c.*239+1G>A (n.*239+1G>A)
n.974-2410G>A
c.*719+1G>A (n.*719+1G>A)
n.993-2410G>A
c.1045+1G>A (n.1045+1G>A)
c.451+1G>A (n.451+1G>A)
c.445+1G>A (n.445+1G>A)
c.100+1G>A (n.100+1G>A)
c.221+1G>A (n.221+1G>A)
c.687-7907G>A (n.687-7907G>A)
c.1423+1G>A (n.1423+1G>A)
n.2660+1G>A
n.995-2410G>A
 gnomAD v4
9g.133436956G>CCA375391934ADAMTS13c.1435+1G>C (n.1435+1G>C)
c.1342+1G>C (n.1342+1G>C)
c.691+1G>C (n.691+1G>C)
c.*239+1G>C (n.*239+1G>C)
n.974-2410G>C
c.*719+1G>C (n.*719+1G>C)
n.993-2410G>C
c.1045+1G>C (n.1045+1G>C)
c.451+1G>C (n.451+1G>C)
c.445+1G>C (n.445+1G>C)
c.100+1G>C (n.100+1G>C)
c.221+1G>C (n.221+1G>C)
c.687-7907G>C (n.687-7907G>C)
c.1423+1G>C (n.1423+1G>C)
n.2660+1G>C
n.995-2410G>C
9g.133436956G>TCA375391935ADAMTS13c.1435+1G>T (n.1435+1G>T)
c.1342+1G>T (n.1342+1G>T)
c.691+1G>T (n.691+1G>T)
c.*239+1G>T (n.*239+1G>T)
n.974-2410G>T
c.*719+1G>T (n.*719+1G>T)
n.993-2410G>T
c.1045+1G>T (n.1045+1G>T)
c.451+1G>T (n.451+1G>T)
c.445+1G>T (n.445+1G>T)
c.100+1G>T (n.100+1G>T)
c.221+1G>T (n.221+1G>T)
c.687-7907G>T (n.687-7907G>T)
c.1423+1G>T (n.1423+1G>T)
n.2660+1G>T
n.995-2410G>T
 gnomAD v4
9g.133436956_133436957insGGATGCTCTGTGCAGACACACA2692371520ADAMTS13c.1435+1_1435+2insGGATGCTCTGTGCAGACACA (n.1435+1_1435+2insGGATGCTCTGTGCAGACACA)
c.1342+1_1342+2insGGATGCTCTGTGCAGACACA (n.1342+1_1342+2insGGATGCTCTGTGCAGACACA)
c.691+1_691+2insGGATGCTCTGTGCAGACACA (n.691+1_691+2insGGATGCTCTGTGCAGACACA)
c.*239+1_*239+2insGGATGCTCTGTGCAGACACA (n.*239+1_*239+2insGGATGCTCTGTGCAGACACA)
n.974-2410_974-2409insGGATGCTCTGTGCAGACACA
c.*719+1_*719+2insGGATGCTCTGTGCAGACACA (n.*719+1_*719+2insGGATGCTCTGTGCAGACACA)
n.993-2410_993-2409insGGATGCTCTGTGCAGACACA
c.1045+1_1045+2insGGATGCTCTGTGCAGACACA (n.1045+1_1045+2insGGATGCTCTGTGCAGACACA)
c.451+1_451+2insGGATGCTCTGTGCAGACACA (n.451+1_451+2insGGATGCTCTGTGCAGACACA)
c.445+1_445+2insGGATGCTCTGTGCAGACACA (n.445+1_445+2insGGATGCTCTGTGCAGACACA)
c.100+1_100+2insGGATGCTCTGTGCAGACACA (n.100+1_100+2insGGATGCTCTGTGCAGACACA)
c.221+1_221+2insGGATGCTCTGTGCAGACACA (n.221+1_221+2insGGATGCTCTGTGCAGACACA)
c.687-7907_687-7906insGGATGCTCTGTGCAGACACA (n.687-7907_687-7906insGGATGCTCTGTGCAGACACA)
c.1423+1_1423+2insGGATGCTCTGTGCAGACACA (n.1423+1_1423+2insGGATGCTCTGTGCAGACACA)
n.2660+1_2660+2insGGATGCTCTGTGCAGACACA
n.995-2410_995-2409insGGATGCTCTGTGCAGACACA
 gnomAD v4
9g.133436957T>ACA375391936ADAMTS13c.1435+2T>A (n.1435+2T>A)
c.1342+2T>A (n.1342+2T>A)
c.691+2T>A (n.691+2T>A)
c.*239+2T>A (n.*239+2T>A)
n.974-2409T>A
c.*719+2T>A (n.*719+2T>A)
n.993-2409T>A
c.1045+2T>A (n.1045+2T>A)
c.451+2T>A (n.451+2T>A)
c.445+2T>A (n.445+2T>A)
c.100+2T>A (n.100+2T>A)
c.221+2T>A (n.221+2T>A)
c.687-7906T>A (n.687-7906T>A)
c.1423+2T>A (n.1423+2T>A)
n.2660+2T>A
n.995-2409T>A
 gnomAD v4
9g.133436957T>CCA375391939ADAMTS13c.1435+2T>C (n.1435+2T>C)
c.1342+2T>C (n.1342+2T>C)
c.691+2T>C (n.691+2T>C)
c.*239+2T>C (n.*239+2T>C)
n.974-2409T>C
c.*719+2T>C (n.*719+2T>C)
n.993-2409T>C
c.1045+2T>C (n.1045+2T>C)
c.451+2T>C (n.451+2T>C)
c.445+2T>C (n.445+2T>C)
c.100+2T>C (n.100+2T>C)
c.221+2T>C (n.221+2T>C)
c.687-7906T>C (n.687-7906T>C)
c.1423+2T>C (n.1423+2T>C)
n.2660+2T>C
n.995-2409T>C
9g.133436957T>GCA375391941ADAMTS13c.1435+2T>G (n.1435+2T>G)
c.1342+2T>G (n.1342+2T>G)
c.691+2T>G (n.691+2T>G)
c.*239+2T>G (n.*239+2T>G)
n.974-2409T>G
c.*719+2T>G (n.*719+2T>G)
n.993-2409T>G
c.1045+2T>G (n.1045+2T>G)
c.451+2T>G (n.451+2T>G)
c.445+2T>G (n.445+2T>G)
c.100+2T>G (n.100+2T>G)
c.221+2T>G (n.221+2T>G)
c.687-7906T>G (n.687-7906T>G)
c.1423+2T>G (n.1423+2T>G)
n.2660+2T>G
n.995-2409T>G
9g.133436958G>TCA2692371525ADAMTS13c.1435+3G>T (n.1435+3G>T)
c.1342+3G>T (n.1342+3G>T)
c.691+3G>T (n.691+3G>T)
c.*239+3G>T (n.*239+3G>T)
n.974-2408G>T
c.*719+3G>T (n.*719+3G>T)
n.993-2408G>T
c.1045+3G>T (n.1045+3G>T)
c.451+3G>T (n.451+3G>T)
c.445+3G>T (n.445+3G>T)
c.100+3G>T (n.100+3G>T)
c.221+3G>T (n.221+3G>T)
c.687-7905G>T (n.687-7905G>T)
c.1423+3G>T (n.1423+3G>T)
n.2660+3G>T
n.995-2408G>T
 gnomAD v4
9g.133436961delCA2692371522ADAMTS13c.1435+6del (n.1435+6del)
c.1342+6del (n.1342+6del)
c.691+6del (n.691+6del)
c.*239+6del (n.*239+6del)
n.974-2405del
c.*719+6del (n.*719+6del)
n.993-2405del
c.1045+6del (n.1045+6del)
c.451+6del (n.451+6del)
c.445+6del (n.445+6del)
c.100+6del (n.100+6del)
c.221+6del (n.221+6del)
c.687-7902del (n.687-7902del)
c.1423+6del (n.1423+6del)
n.2660+6del
n.995-2405del
 gnomAD v4
9g.133436959G>ACA2692371527ADAMTS13c.1435+4G>A (n.1435+4G>A)
c.1342+4G>A (n.1342+4G>A)
c.691+4G>A (n.691+4G>A)
c.*239+4G>A (n.*239+4G>A)
n.974-2407G>A
c.*719+4G>A (n.*719+4G>A)
n.993-2407G>A
c.1045+4G>A (n.1045+4G>A)
c.451+4G>A (n.451+4G>A)
c.445+4G>A (n.445+4G>A)
c.100+4G>A (n.100+4G>A)
c.221+4G>A (n.221+4G>A)
c.687-7904G>A (n.687-7904G>A)
c.1423+4G>A (n.1423+4G>A)
n.2660+4G>A
n.995-2407G>A
 gnomAD v4
9g.133436959G=CA1882673184ADAMTS13c.1435+4G= (n.1435+4G=)
c.1342+4G= (n.1342+4G=)
c.691+4G= (n.691+4G=)
c.*239+4G= (n.*239+4G=)
n.974-2407G=
c.*719+4G= (n.*719+4G=)
n.993-2407G=
c.1045+4G= (n.1045+4G=)
c.451+4G= (n.451+4G=)
c.445+4G= (n.445+4G=)
c.100+4G= (n.100+4G=)
c.221+4G= (n.221+4G=)
c.687-7904G= (n.687-7904G=)
c.1423+4G= (n.1423+4G=)
n.2660+4G=
n.995-2407G=
9g.133436959G>TCA860755661ADAMTS13c.1435+4G>T (n.1435+4G>T)
c.1342+4G>T (n.1342+4G>T)
c.691+4G>T (n.691+4G>T)
c.*239+4G>T (n.*239+4G>T)
n.974-2407G>T
c.*719+4G>T (n.*719+4G>T)
n.993-2407G>T
c.1045+4G>T (n.1045+4G>T)
c.451+4G>T (n.451+4G>T)
c.445+4G>T (n.445+4G>T)
c.100+4G>T (n.100+4G>T)
c.221+4G>T (n.221+4G>T)
c.687-7904G>T (n.687-7904G>T)
c.1423+4G>T (n.1423+4G>T)
n.2660+4G>T
n.995-2407G>T
 dbSNP gnomAD v4
9g.133436960G>ACA860755664ADAMTS13c.1435+5G>A (n.1435+5G>A)
c.1342+5G>A (n.1342+5G>A)
c.691+5G>A (n.691+5G>A)
c.*239+5G>A (n.*239+5G>A)
n.974-2406G>A
c.*719+5G>A (n.*719+5G>A)
n.993-2406G>A
c.1045+5G>A (n.1045+5G>A)
c.451+5G>A (n.451+5G>A)
c.445+5G>A (n.445+5G>A)
c.100+5G>A (n.100+5G>A)
c.221+5G>A (n.221+5G>A)
c.687-7903G>A (n.687-7903G>A)
c.1423+5G>A (n.1423+5G>A)
n.2660+5G>A
n.995-2406G>A
 dbSNP gnomAD v4
9g.133436960G=CA1882673185ADAMTS13c.1435+5G= (n.1435+5G=)
c.1342+5G= (n.1342+5G=)
c.691+5G= (n.691+5G=)
c.*239+5G= (n.*239+5G=)
n.974-2406G=
c.*719+5G= (n.*719+5G=)
n.993-2406G=
c.1045+5G= (n.1045+5G=)
c.451+5G= (n.451+5G=)
c.445+5G= (n.445+5G=)
c.100+5G= (n.100+5G=)
c.221+5G= (n.221+5G=)
c.687-7903G= (n.687-7903G=)
c.1423+5G= (n.1423+5G=)
n.2660+5G=
n.995-2406G=
9g.133436960G>TCA2692371530ADAMTS13c.1435+5G>T (n.1435+5G>T)
c.1342+5G>T (n.1342+5G>T)
c.691+5G>T (n.691+5G>T)
c.*239+5G>T (n.*239+5G>T)
n.974-2406G>T
c.*719+5G>T (n.*719+5G>T)
n.993-2406G>T
c.1045+5G>T (n.1045+5G>T)
c.451+5G>T (n.451+5G>T)
c.445+5G>T (n.445+5G>T)
c.100+5G>T (n.100+5G>T)
c.221+5G>T (n.221+5G>T)
c.687-7903G>T (n.687-7903G>T)
c.1423+5G>T (n.1423+5G>T)
n.2660+5G>T
n.995-2406G>T
 gnomAD v4
9g.133436961G>ACA2545285782ADAMTS13c.1435+6G>A (n.1435+6G>A)
c.1342+6G>A (n.1342+6G>A)
c.691+6G>A (n.691+6G>A)
c.*239+6G>A (n.*239+6G>A)
n.974-2405G>A
c.*719+6G>A (n.*719+6G>A)
n.993-2405G>A
c.1045+6G>A (n.1045+6G>A)
c.451+6G>A (n.451+6G>A)
c.445+6G>A (n.445+6G>A)
c.100+6G>A (n.100+6G>A)
c.221+6G>A (n.221+6G>A)
c.687-7902G>A (n.687-7902G>A)
c.1423+6G>A (n.1423+6G>A)
n.2660+6G>A
n.995-2405G>A
9g.133436961G>TCA2692371531ADAMTS13c.1435+6G>T (n.1435+6G>T)
c.1342+6G>T (n.1342+6G>T)
c.691+6G>T (n.691+6G>T)
c.*239+6G>T (n.*239+6G>T)
n.974-2405G>T
c.*719+6G>T (n.*719+6G>T)
n.993-2405G>T
c.1045+6G>T (n.1045+6G>T)
c.451+6G>T (n.451+6G>T)
c.445+6G>T (n.445+6G>T)
c.100+6G>T (n.100+6G>T)
c.221+6G>T (n.221+6G>T)
c.687-7902G>T (n.687-7902G>T)
c.1423+6G>T (n.1423+6G>T)
n.2660+6G>T
n.995-2405G>T
 gnomAD v4
9g.133436962C>ACA200929723ADAMTS13c.1435+7C>A (n.1435+7C>A)
c.1342+7C>A (n.1342+7C>A)
c.691+7C>A (n.691+7C>A)
c.*239+7C>A (n.*239+7C>A)
n.974-2404C>A
c.*719+7C>A (n.*719+7C>A)
n.993-2404C>A
c.1045+7C>A (n.1045+7C>A)
c.451+7C>A (n.451+7C>A)
c.445+7C>A (n.445+7C>A)
c.100+7C>A (n.100+7C>A)
c.221+7C>A (n.221+7C>A)
c.687-7901C>A (n.687-7901C>A)
c.1423+7C>A (n.1423+7C>A)
n.2660+7C>A
n.995-2404C>A
 dbSNP gnomAD v4
9g.133436962C=CA1882673186ADAMTS13c.1435+7C= (n.1435+7C=)
c.1342+7C= (n.1342+7C=)
c.691+7C= (n.691+7C=)
c.*239+7C= (n.*239+7C=)
n.974-2404C=
c.*719+7C= (n.*719+7C=)
n.993-2404C=
c.1045+7C= (n.1045+7C=)
c.451+7C= (n.451+7C=)
c.445+7C= (n.445+7C=)
c.100+7C= (n.100+7C=)
c.221+7C= (n.221+7C=)
c.687-7901C= (n.687-7901C=)
c.1423+7C= (n.1423+7C=)
n.2660+7C=
n.995-2404C=
9g.133436963C>ACA2579500384ADAMTS13c.1435+8C>A (n.1435+8C>A)
c.1342+8C>A (n.1342+8C>A)
c.691+8C>A (n.691+8C>A)
c.*239+8C>A (n.*239+8C>A)
n.974-2403C>A
c.*719+8C>A (n.*719+8C>A)
n.993-2403C>A
c.1045+8C>A (n.1045+8C>A)
c.451+8C>A (n.451+8C>A)
c.445+8C>A (n.445+8C>A)
c.100+8C>A (n.100+8C>A)
c.221+8C>A (n.221+8C>A)
c.687-7900C>A (n.687-7900C>A)
c.1423+8C>A (n.1423+8C>A)
n.2660+8C>A
n.995-2403C>A
 gnomAD v4
9g.133436963C>TCA2579500385ADAMTS13c.1435+8C>T (n.1435+8C>T)
c.1342+8C>T (n.1342+8C>T)
c.691+8C>T (n.691+8C>T)
c.*239+8C>T (n.*239+8C>T)
n.974-2403C>T
c.*719+8C>T (n.*719+8C>T)
n.993-2403C>T
c.1045+8C>T (n.1045+8C>T)
c.451+8C>T (n.451+8C>T)
c.445+8C>T (n.445+8C>T)
c.100+8C>T (n.100+8C>T)
c.221+8C>T (n.221+8C>T)
c.687-7900C>T (n.687-7900C>T)
c.1423+8C>T (n.1423+8C>T)
n.2660+8C>T
n.995-2403C>T
 gnomAD v4
9g.133436964T>ACA645564043ADAMTS13c.1435+9T>A (n.1435+9T>A)
c.1342+9T>A (n.1342+9T>A)
c.691+9T>A (n.691+9T>A)
c.*239+9T>A (n.*239+9T>A)
n.974-2402T>A
c.*719+9T>A (n.*719+9T>A)
n.993-2402T>A
c.1045+9T>A (n.1045+9T>A)
c.451+9T>A (n.451+9T>A)
c.445+9T>A (n.445+9T>A)
c.100+9T>A (n.100+9T>A)
c.221+9T>A (n.221+9T>A)
c.687-7899T>A (n.687-7899T>A)
c.1423+9T>A (n.1423+9T>A)
n.2660+9T>A
n.995-2402T>A
 COSMIC
9g.133436964T>CCA2692371543ADAMTS13c.1435+9T>C (n.1435+9T>C)
c.1342+9T>C (n.1342+9T>C)
c.691+9T>C (n.691+9T>C)
c.*239+9T>C (n.*239+9T>C)
n.974-2402T>C
c.*719+9T>C (n.*719+9T>C)
n.993-2402T>C
c.1045+9T>C (n.1045+9T>C)
c.451+9T>C (n.451+9T>C)
c.445+9T>C (n.445+9T>C)
c.100+9T>C (n.100+9T>C)
c.221+9T>C (n.221+9T>C)
c.687-7899T>C (n.687-7899T>C)
c.1423+9T>C (n.1423+9T>C)
n.2660+9T>C
n.995-2402T>C
 gnomAD v4
9g.133436965G>ACA2579500386ADAMTS13c.1435+10G>A (n.1435+10G>A)
c.1342+10G>A (n.1342+10G>A)
c.691+10G>A (n.691+10G>A)
c.*239+10G>A (n.*239+10G>A)
n.974-2401G>A
c.*719+10G>A (n.*719+10G>A)
n.993-2401G>A
c.1045+10G>A (n.1045+10G>A)
c.451+10G>A (n.451+10G>A)
c.445+10G>A (n.445+10G>A)
c.100+10G>A (n.100+10G>A)
c.221+10G>A (n.221+10G>A)
c.687-7898G>A (n.687-7898G>A)
c.1423+10G>A (n.1423+10G>A)
n.2660+10G>A
n.995-2401G>A
 gnomAD v4
9g.133436965G>TCA2692371545ADAMTS13c.1435+10G>T (n.1435+10G>T)
c.1342+10G>T (n.1342+10G>T)
c.691+10G>T (n.691+10G>T)
c.*239+10G>T (n.*239+10G>T)
n.974-2401G>T
c.*719+10G>T (n.*719+10G>T)
n.993-2401G>T
c.1045+10G>T (n.1045+10G>T)
c.451+10G>T (n.451+10G>T)
c.445+10G>T (n.445+10G>T)
c.100+10G>T (n.100+10G>T)
c.221+10G>T (n.221+10G>T)
c.687-7898G>T (n.687-7898G>T)
c.1423+10G>T (n.1423+10G>T)
n.2660+10G>T
n.995-2401G>T
 gnomAD v4
9g.133436966C>ACA1882673187ADAMTS13c.1435+11C>A (n.1435+11C>A)
c.1342+11C>A (n.1342+11C>A)
c.691+11C>A (n.691+11C>A)
c.*239+11C>A (n.*239+11C>A)
n.974-2400C>A
c.*719+11C>A (n.*719+11C>A)
n.993-2400C>A
c.1045+11C>A (n.1045+11C>A)
c.451+11C>A (n.451+11C>A)
c.445+11C>A (n.445+11C>A)
c.100+11C>A (n.100+11C>A)
c.221+11C>A (n.221+11C>A)
c.687-7897C>A (n.687-7897C>A)
c.1423+11C>A (n.1423+11C>A)
n.2660+11C>A
n.995-2400C>A
 dbSNP gnomAD v4
9g.133436966C=CA1882673188ADAMTS13c.1435+11C= (n.1435+11C=)
c.1342+11C= (n.1342+11C=)
c.691+11C= (n.691+11C=)
c.*239+11C= (n.*239+11C=)
n.974-2400C=
c.*719+11C= (n.*719+11C=)
n.993-2400C=
c.1045+11C= (n.1045+11C=)
c.451+11C= (n.451+11C=)
c.445+11C= (n.445+11C=)
c.100+11C= (n.100+11C=)
c.221+11C= (n.221+11C=)
c.687-7897C= (n.687-7897C=)
c.1423+11C= (n.1423+11C=)
n.2660+11C=
n.995-2400C=
9g.133436966C>TCA10633056ADAMTS13c.1435+11C>T (n.1435+11C>T)
c.1342+11C>T (n.1342+11C>T)
c.691+11C>T (n.691+11C>T)
c.*239+11C>T (n.*239+11C>T)
n.974-2400C>T
c.*719+11C>T (n.*719+11C>T)
n.993-2400C>T
c.1045+11C>T (n.1045+11C>T)
c.451+11C>T (n.451+11C>T)
c.445+11C>T (n.445+11C>T)
c.100+11C>T (n.100+11C>T)
c.221+11C>T (n.221+11C>T)
c.687-7897C>T (n.687-7897C>T)
c.1423+11C>T (n.1423+11C>T)
n.2660+11C>T
n.995-2400C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133436967G>ACA860755670ADAMTS13c.1435+12G>A (n.1435+12G>A)
c.1342+12G>A (n.1342+12G>A)
c.691+12G>A (n.691+12G>A)
c.*239+12G>A (n.*239+12G>A)
n.974-2399G>A
c.*719+12G>A (n.*719+12G>A)
n.993-2399G>A
c.1045+12G>A (n.1045+12G>A)
c.451+12G>A (n.451+12G>A)
c.445+12G>A (n.445+12G>A)
c.100+12G>A (n.100+12G>A)
c.221+12G>A (n.221+12G>A)
c.687-7896G>A (n.687-7896G>A)
c.1423+12G>A (n.1423+12G>A)
n.2660+12G>A
n.995-2399G>A
 dbSNP gnomAD v3 gnomAD v4
9g.133436967G=CA1882673189ADAMTS13c.1435+12G= (n.1435+12G=)
c.1342+12G= (n.1342+12G=)
c.691+12G= (n.691+12G=)
c.*239+12G= (n.*239+12G=)
n.974-2399G=
c.*719+12G= (n.*719+12G=)
n.993-2399G=
c.1045+12G= (n.1045+12G=)
c.451+12G= (n.451+12G=)
c.445+12G= (n.445+12G=)
c.100+12G= (n.100+12G=)
c.221+12G= (n.221+12G=)
c.687-7896G= (n.687-7896G=)
c.1423+12G= (n.1423+12G=)
n.2660+12G=
n.995-2399G=
9g.133436967G>TCA2692371558ADAMTS13c.1435+12G>T (n.1435+12G>T)
c.1342+12G>T (n.1342+12G>T)
c.691+12G>T (n.691+12G>T)
c.*239+12G>T (n.*239+12G>T)
n.974-2399G>T
c.*719+12G>T (n.*719+12G>T)
n.993-2399G>T
c.1045+12G>T (n.1045+12G>T)
c.451+12G>T (n.451+12G>T)
c.445+12G>T (n.445+12G>T)
c.100+12G>T (n.100+12G>T)
c.221+12G>T (n.221+12G>T)
c.687-7896G>T (n.687-7896G>T)
c.1423+12G>T (n.1423+12G>T)
n.2660+12G>T
n.995-2399G>T
 gnomAD v4
9g.133436968G>TCA2692371560ADAMTS13c.1435+13G>T (n.1435+13G>T)
c.1342+13G>T (n.1342+13G>T)
c.691+13G>T (n.691+13G>T)
c.*239+13G>T (n.*239+13G>T)
n.974-2398G>T
c.*719+13G>T (n.*719+13G>T)
n.993-2398G>T
c.1045+13G>T (n.1045+13G>T)
c.451+13G>T (n.451+13G>T)
c.445+13G>T (n.445+13G>T)
c.100+13G>T (n.100+13G>T)
c.221+13G>T (n.221+13G>T)
c.687-7895G>T (n.687-7895G>T)
c.1423+13G>T (n.1423+13G>T)
n.2660+13G>T
n.995-2398G>T
 gnomAD v4

Number of alleles fetched