Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.133456061C>TCA2579547233ADAMTS13c.3401-8C>T (n.3401-8C>T)
c.3308-8C>T (n.3308-8C>T)
c.-44-8C>T (n.-44-8C>T)
c.*870-8C>T (n.*870-8C>T)
c.3569-8C>T (n.3569-8C>T)
n.2217-8C>T
n.2236-8C>T
c.3179-8C>T (n.3179-8C>T)
c.3570-8C>T (n.3570-8C>T)
c.2585-8C>T (n.2585-8C>T)
c.2579-8C>T (n.2579-8C>T)
c.2234-8C>T (n.2234-8C>T)
c.1835-8C>T (n.1835-8C>T)
c.3557-8C>T (n.3557-8C>T)
n.2238-8C>T
 gnomAD v4
9g.133456065delCA2692365707ADAMTS13c.3401-4del (n.3401-4del)
c.3308-4del (n.3308-4del)
c.-44-4del (n.-44-4del)
c.*870-4del (n.*870-4del)
c.3569-4del (n.3569-4del)
n.2217-4del
n.2236-4del
c.3179-4del (n.3179-4del)
c.3570-4del (n.3570-4del)
c.2585-4del (n.2585-4del)
c.2579-4del (n.2579-4del)
c.2234-4del (n.2234-4del)
c.1835-4del (n.1835-4del)
c.3557-4del (n.3557-4del)
n.2238-4del
 gnomAD v4
9g.133456065T>ACA1882682419ADAMTS13c.3401-4T>A (n.3401-4T>A)
c.3308-4T>A (n.3308-4T>A)
c.-44-4T>A (n.-44-4T>A)
c.*870-4T>A (n.*870-4T>A)
c.3569-4T>A (n.3569-4T>A)
n.2217-4T>A
n.2236-4T>A
c.3179-4T>A (n.3179-4T>A)
c.3570-4T>A (n.3570-4T>A)
c.2585-4T>A (n.2585-4T>A)
c.2579-4T>A (n.2579-4T>A)
c.2234-4T>A (n.2234-4T>A)
c.1835-4T>A (n.1835-4T>A)
c.3557-4T>A (n.3557-4T>A)
n.2238-4T>A
 dbSNP gnomAD v4
9g.133456065T>CCA2692365708ADAMTS13c.3401-4T>C (n.3401-4T>C)
c.3308-4T>C (n.3308-4T>C)
c.-44-4T>C (n.-44-4T>C)
c.*870-4T>C (n.*870-4T>C)
c.3569-4T>C (n.3569-4T>C)
n.2217-4T>C
n.2236-4T>C
c.3179-4T>C (n.3179-4T>C)
c.3570-4T>C (n.3570-4T>C)
c.2585-4T>C (n.2585-4T>C)
c.2579-4T>C (n.2579-4T>C)
c.2234-4T>C (n.2234-4T>C)
c.1835-4T>C (n.1835-4T>C)
c.3557-4T>C (n.3557-4T>C)
n.2238-4T>C
 gnomAD v4
9g.133456065T=CA1882682418ADAMTS13c.3401-4T= (n.3401-4T=)
c.3308-4T= (n.3308-4T=)
c.-44-4T= (n.-44-4T=)
c.*870-4T= (n.*870-4T=)
c.3569-4T= (n.3569-4T=)
n.2217-4T=
n.2236-4T=
c.3179-4T= (n.3179-4T=)
c.3570-4T= (n.3570-4T=)
c.2585-4T= (n.2585-4T=)
c.2579-4T= (n.2579-4T=)
c.2234-4T= (n.2234-4T=)
c.1835-4T= (n.1835-4T=)
c.3557-4T= (n.3557-4T=)
n.2238-4T=
9g.133456066C>ACA2573331851ADAMTS13c.3401-3C>A (n.3401-3C>A)
c.3308-3C>A (n.3308-3C>A)
c.-44-3C>A (n.-44-3C>A)
c.*870-3C>A (n.*870-3C>A)
c.3569-3C>A (n.3569-3C>A)
n.2217-3C>A
n.2236-3C>A
c.3179-3C>A (n.3179-3C>A)
c.3570-3C>A (n.3570-3C>A)
c.2585-3C>A (n.2585-3C>A)
c.2579-3C>A (n.2579-3C>A)
c.2234-3C>A (n.2234-3C>A)
c.1835-3C>A (n.1835-3C>A)
c.3557-3C>A (n.3557-3C>A)
n.2238-3C>A
 ClinVar
9g.133456066C=CA1882682420ADAMTS13c.3401-3C= (n.3401-3C=)
c.3308-3C= (n.3308-3C=)
c.-44-3C= (n.-44-3C=)
c.*870-3C= (n.*870-3C=)
c.3569-3C= (n.3569-3C=)
n.2217-3C=
n.2236-3C=
c.3179-3C= (n.3179-3C=)
c.3570-3C= (n.3570-3C=)
c.2585-3C= (n.2585-3C=)
c.2579-3C= (n.2579-3C=)
c.2234-3C= (n.2234-3C=)
c.1835-3C= (n.1835-3C=)
c.3557-3C= (n.3557-3C=)
n.2238-3C=
9g.133456066C>TCA200944703ADAMTS13c.3401-3C>T (n.3401-3C>T)
c.3308-3C>T (n.3308-3C>T)
c.-44-3C>T (n.-44-3C>T)
c.*870-3C>T (n.*870-3C>T)
c.3569-3C>T (n.3569-3C>T)
n.2217-3C>T
n.2236-3C>T
c.3179-3C>T (n.3179-3C>T)
c.3570-3C>T (n.3570-3C>T)
c.2585-3C>T (n.2585-3C>T)
c.2579-3C>T (n.2579-3C>T)
c.2234-3C>T (n.2234-3C>T)
c.1835-3C>T (n.1835-3C>T)
c.3557-3C>T (n.3557-3C>T)
n.2238-3C>T
 dbSNP gnomAD v4
9g.133456067A=CA1882682421ADAMTS13c.3401-2A= (n.3401-2A=)
c.3308-2A= (n.3308-2A=)
c.-44-2A= (n.-44-2A=)
c.*870-2A= (n.*870-2A=)
c.3569-2A= (n.3569-2A=)
n.2217-2A=
n.2236-2A=
c.3179-2A= (n.3179-2A=)
c.3570-2A= (n.3570-2A=)
c.2585-2A= (n.2585-2A=)
c.2579-2A= (n.2579-2A=)
c.2234-2A= (n.2234-2A=)
c.1835-2A= (n.1835-2A=)
c.3557-2A= (n.3557-2A=)
n.2238-2A=
9g.133456067A>CCA200944705ADAMTS13c.3401-2A>C (n.3401-2A>C)
c.3308-2A>C (n.3308-2A>C)
c.-44-2A>C (n.-44-2A>C)
c.*870-2A>C (n.*870-2A>C)
c.3569-2A>C (n.3569-2A>C)
n.2217-2A>C
n.2236-2A>C
c.3179-2A>C (n.3179-2A>C)
c.3570-2A>C (n.3570-2A>C)
c.2585-2A>C (n.2585-2A>C)
c.2579-2A>C (n.2579-2A>C)
c.2234-2A>C (n.2234-2A>C)
c.1835-2A>C (n.1835-2A>C)
c.3557-2A>C (n.3557-2A>C)
n.2238-2A>C
 dbSNP gnomAD v4
9g.133456067A>GCA375414631ADAMTS13c.3401-2A>G (n.3401-2A>G)
c.3308-2A>G (n.3308-2A>G)
c.-44-2A>G (n.-44-2A>G)
c.*870-2A>G (n.*870-2A>G)
c.3569-2A>G (n.3569-2A>G)
n.2217-2A>G
n.2236-2A>G
c.3179-2A>G (n.3179-2A>G)
c.3570-2A>G (n.3570-2A>G)
c.2585-2A>G (n.2585-2A>G)
c.2579-2A>G (n.2579-2A>G)
c.2234-2A>G (n.2234-2A>G)
c.1835-2A>G (n.1835-2A>G)
c.3557-2A>G (n.3557-2A>G)
n.2238-2A>G
9g.133456067A>TCA375414634ADAMTS13c.3401-2A>T (n.3401-2A>T)
c.3308-2A>T (n.3308-2A>T)
c.-44-2A>T (n.-44-2A>T)
c.*870-2A>T (n.*870-2A>T)
c.3569-2A>T (n.3569-2A>T)
n.2217-2A>T
n.2236-2A>T
c.3179-2A>T (n.3179-2A>T)
c.3570-2A>T (n.3570-2A>T)
c.2585-2A>T (n.2585-2A>T)
c.2579-2A>T (n.2579-2A>T)
c.2234-2A>T (n.2234-2A>T)
c.1835-2A>T (n.1835-2A>T)
c.3557-2A>T (n.3557-2A>T)
n.2238-2A>T
9g.133456068G>ACA375414639ADAMTS13c.3401-1G>A (n.3401-1G>A)
c.3308-1G>A (n.3308-1G>A)
c.-44-1G>A (n.-44-1G>A)
c.*870-1G>A (n.*870-1G>A)
c.3569-1G>A (n.3569-1G>A)
n.2217-1G>A
n.2236-1G>A
c.3179-1G>A (n.3179-1G>A)
c.3570-1G>A (n.3570-1G>A)
c.2585-1G>A (n.2585-1G>A)
c.2579-1G>A (n.2579-1G>A)
c.2234-1G>A (n.2234-1G>A)
c.1835-1G>A (n.1835-1G>A)
c.3557-1G>A (n.3557-1G>A)
n.2238-1G>A
9g.133456068G>CCA375414642ADAMTS13c.3401-1G>C (n.3401-1G>C)
c.3308-1G>C (n.3308-1G>C)
c.-44-1G>C (n.-44-1G>C)
c.*870-1G>C (n.*870-1G>C)
c.3569-1G>C (n.3569-1G>C)
n.2217-1G>C
n.2236-1G>C
c.3179-1G>C (n.3179-1G>C)
c.3570-1G>C (n.3570-1G>C)
c.2585-1G>C (n.2585-1G>C)
c.2579-1G>C (n.2579-1G>C)
c.2234-1G>C (n.2234-1G>C)
c.1835-1G>C (n.1835-1G>C)
c.3557-1G>C (n.3557-1G>C)
n.2238-1G>C
9g.133456068G>TCA375414640ADAMTS13c.3401-1G>T (n.3401-1G>T)
c.3308-1G>T (n.3308-1G>T)
c.-44-1G>T (n.-44-1G>T)
c.*870-1G>T (n.*870-1G>T)
c.3569-1G>T (n.3569-1G>T)
n.2217-1G>T
n.2236-1G>T
c.3179-1G>T (n.3179-1G>T)
c.3570-1G>T (n.3570-1G>T)
c.2585-1G>T (n.2585-1G>T)
c.2579-1G>T (n.2579-1G>T)
c.2234-1G>T (n.2234-1G>T)
c.1835-1G>T (n.1835-1G>T)
c.3557-1G>T (n.3557-1G>T)
n.2238-1G>T
9g.133456069G>ACA375414647ADAMTS13c.3401G>A (p.Gly1134Asp)
c.3308G>A (p.Gly1103Asp)
c.-44G>A (n.-44G>A)
c.*870G>A (n.*870G>A)
c.3569G>A (p.Ser1190Asn)
n.2217G>A
n.2236G>A
c.3179G>A (p.Ser1060Asn)
c.3570G>A (p.Arg1190=)
c.2585G>A (p.Ser862Asn)
c.2579G>A (p.Ser860Asn)
c.2234G>A (p.Ser745Asn)
c.1835G>A (p.Ser612Asn)
c.3557G>A (p.Ser1186Asn)
n.2238G>A
 dbSNP gnomAD v4
9g.133456069G>CCA375414650ADAMTS13c.3401G>C (p.Gly1134Ala)
c.3308G>C (p.Gly1103Ala)
c.-44G>C (n.-44G>C)
c.*870G>C (n.*870G>C)
c.3569G>C (p.Ser1190Thr)
n.2217G>C
n.2236G>C
c.3179G>C (p.Ser1060Thr)
c.3570G>C (p.Arg1190Ser)
c.2585G>C (p.Ser862Thr)
c.2579G>C (p.Ser860Thr)
c.2234G>C (p.Ser745Thr)
c.1835G>C (p.Ser612Thr)
c.3557G>C (p.Ser1186Thr)
n.2238G>C
9g.133456069G=CA1882682422ADAMTS13c.3401G= (p.Gly1134=)
c.3308G= (p.Gly1103=)
c.-44G= (n.-44G=)
c.*870G= (n.*870G=)
c.3569G= (p.Ser1190=)
n.2217G=
n.2236G=
c.3179G= (p.Ser1060=)
c.3570G= (p.Arg1190=)
c.2585G= (p.Ser862=)
c.2579G= (p.Ser860=)
c.2234G= (p.Ser745=)
c.1835G= (p.Ser612=)
c.3557G= (p.Ser1186=)
n.2238G=
9g.133456069G>TCA375414653ADAMTS13c.3401G>T (p.Gly1134Val)
c.3308G>T (p.Gly1103Val)
c.-44G>T (n.-44G>T)
c.*870G>T (n.*870G>T)
c.3569G>T (p.Ser1190Ile)
n.2217G>T
n.2236G>T
c.3179G>T (p.Ser1060Ile)
c.3570G>T (p.Arg1190Ser)
c.2585G>T (p.Ser862Ile)
c.2579G>T (p.Ser860Ile)
c.2234G>T (p.Ser745Ile)
c.1835G>T (p.Ser612Ile)
c.3557G>T (p.Ser1186Ile)
n.2238G>T
 gnomAD v4
9g.133456070T>ACA375414654ADAMTS13c.3402T>A (p.Gly1134=)
c.3309T>A (p.Gly1103=)
c.-43T>A (n.-43T>A)
c.*871T>A (n.*871T>A)
c.3570T>A (p.Ser1190Arg)
n.2218T>A
n.2237T>A
c.3180T>A (p.Ser1060Arg)
c.3571T>A (p.Cys1191Ser)
c.2586T>A (p.Ser862Arg)
c.2580T>A (p.Ser860Arg)
c.2235T>A (p.Ser745Arg)
c.1836T>A (p.Ser612Arg)
c.3558T>A (p.Ser1186Arg)
n.2239T>A
9g.133456070T>GCA375414655ADAMTS13c.3402T>G (p.Gly1134=)
c.3309T>G (p.Gly1103=)
c.-43T>G (n.-43T>G)
c.*871T>G (n.*871T>G)
c.3570T>G (p.Ser1190Arg)
n.2218T>G
n.2237T>G
c.3180T>G (p.Ser1060Arg)
c.3571T>G (p.Cys1191Gly)
c.2586T>G (p.Ser862Arg)
c.2580T>G (p.Ser860Arg)
c.2235T>G (p.Ser745Arg)
c.1836T>G (p.Ser612Arg)
c.3558T>G (p.Ser1186Arg)
n.2239T>G
9g.133456071G>ACA375414658ADAMTS13c.3403G>A (p.Ala1135Thr)
c.3310G>A (p.Ala1104Thr)
c.-42G>A (n.-42G>A)
c.*872G>A (n.*872G>A)
c.3571G>A (p.Ala1191Thr)
n.2219G>A
n.2238G>A
c.3181G>A (p.Ala1061Thr)
c.3572G>A (p.Cys1191Tyr)
c.2587G>A (p.Ala863Thr)
c.2581G>A (p.Ala861Thr)
c.2236G>A (p.Ala746Thr)
c.1837G>A (p.Ala613Thr)
c.3559G>A (p.Ala1187Thr)
n.2240G>A
 gnomAD v4
9g.133456071G>CCA375414659ADAMTS13c.3403G>C (p.Ala1135Pro)
c.3310G>C (p.Ala1104Pro)
c.-42G>C (n.-42G>C)
c.*872G>C (n.*872G>C)
c.3571G>C (p.Ala1191Pro)
n.2219G>C
n.2238G>C
c.3181G>C (p.Ala1061Pro)
c.3572G>C (p.Cys1191Ser)
c.2587G>C (p.Ala863Pro)
c.2581G>C (p.Ala861Pro)
c.2236G>C (p.Ala746Pro)
c.1837G>C (p.Ala613Pro)
c.3559G>C (p.Ala1187Pro)
n.2240G>C
9g.133456071G=CA1882682423ADAMTS13c.3403G= (p.Ala1135=)
c.3310G= (p.Ala1104=)
c.-42G= (n.-42G=)
c.*872G= (n.*872G=)
c.3571G= (p.Ala1191=)
n.2219G=
n.2238G=
c.3181G= (p.Ala1061=)
c.3572G= (p.Cys1191=)
c.2587G= (p.Ala863=)
c.2581G= (p.Ala861=)
c.2236G= (p.Ala746=)
c.1837G= (p.Ala613=)
c.3559G= (p.Ala1187=)
n.2240G=
9g.133456071G>TCA375414660ADAMTS13c.3403G>T (p.Ala1135Ser)
c.3310G>T (p.Ala1104Ser)
c.-42G>T (n.-42G>T)
c.*872G>T (n.*872G>T)
c.3571G>T (p.Ala1191Ser)
n.2219G>T
n.2238G>T
c.3181G>T (p.Ala1061Ser)
c.3572G>T (p.Cys1191Phe)
c.2587G>T (p.Ala863Ser)
c.2581G>T (p.Ala861Ser)
c.2236G>T (p.Ala746Ser)
c.1837G>T (p.Ala613Ser)
c.3559G>T (p.Ala1187Ser)
n.2240G>T
 dbSNP gnomAD v4
9g.133456072C>ACA375414663ADAMTS13c.3404C>A (p.Ala1135Asp)
c.3311C>A (p.Ala1104Asp)
c.-41C>A (n.-41C>A)
c.*873C>A (n.*873C>A)
c.3572C>A (p.Ala1191Asp)
n.2220C>A
n.2239C>A
c.3182C>A (p.Ala1061Asp)
c.3573C>A (p.Cys1191Ter)
c.2588C>A (p.Ala863Asp)
c.2582C>A (p.Ala861Asp)
c.2237C>A (p.Ala746Asp)
c.1838C>A (p.Ala613Asp)
c.3560C>A (p.Ala1187Asp)
n.2241C>A
9g.133456072C>GCA375414664ADAMTS13c.3404C>G (p.Ala1135Gly)
c.3311C>G (p.Ala1104Gly)
c.-41C>G (n.-41C>G)
c.*873C>G (n.*873C>G)
c.3572C>G (p.Ala1191Gly)
n.2220C>G
n.2239C>G
c.3182C>G (p.Ala1061Gly)
c.3573C>G (p.Cys1191Trp)
c.2588C>G (p.Ala863Gly)
c.2582C>G (p.Ala861Gly)
c.2237C>G (p.Ala746Gly)
c.1838C>G (p.Ala613Gly)
c.3560C>G (p.Ala1187Gly)
n.2241C>G
9g.133456072C>TCA375414666ADAMTS13c.3404C>T (p.Ala1135Val)
c.3311C>T (p.Ala1104Val)
c.-41C>T (n.-41C>T)
c.*873C>T (n.*873C>T)
c.3572C>T (p.Ala1191Val)
n.2220C>T
n.2239C>T
c.3182C>T (p.Ala1061Val)
c.3573C>T (p.Cys1191=)
c.2588C>T (p.Ala863Val)
c.2582C>T (p.Ala861Val)
c.2237C>T (p.Ala746Val)
c.1838C>T (p.Ala613Val)
c.3560C>T (p.Ala1187Val)
n.2241C>T
9g.133456073C=CA1882682424ADAMTS13c.3405C= (p.Ala1135=)
c.3312C= (p.Ala1104=)
c.-40C= (n.-40C=)
c.*874C= (n.*874C=)
c.3573C= (p.Ala1191=)
n.2221C=
n.2240C=
c.3183C= (p.Ala1061=)
c.3574C= (p.Leu1192=)
c.2589C= (p.Ala863=)
c.2583C= (p.Ala861=)
c.2238C= (p.Ala746=)
c.1839C= (p.Ala613=)
c.3561C= (p.Ala1187=)
n.2242C=
9g.133456073C>TCA860744033ADAMTS13c.3405C>T (p.Ala1135=)
c.3312C>T (p.Ala1104=)
c.-40C>T (n.-40C>T)
c.*874C>T (n.*874C>T)
c.3573C>T (p.Ala1191=)
n.2221C>T
n.2240C>T
c.3183C>T (p.Ala1061=)
c.3574C>T (p.Leu1192=)
c.2589C>T (p.Ala863=)
c.2583C>T (p.Ala861=)
c.2238C>T (p.Ala746=)
c.1839C>T (p.Ala613=)
c.3561C>T (p.Ala1187=)
n.2242C>T
 dbSNP
9g.133456074T>ACA375414680ADAMTS13c.3406T>A (p.Cys1136Ser)
c.3313T>A (p.Cys1105Ser)
c.-39T>A (n.-39T>A)
c.*875T>A (n.*875T>A)
c.3574T>A (p.Cys1192Ser)
n.2222T>A
n.2241T>A
c.3184T>A (p.Cys1062Ser)
c.3575T>A (p.Leu1192Gln)
c.2590T>A (p.Cys864Ser)
c.2584T>A (p.Cys862Ser)
c.2239T>A (p.Cys747Ser)
c.1840T>A (p.Cys614Ser)
c.3562T>A (p.Cys1188Ser)
n.2243T>A
9g.133456074T>CCA375414675ADAMTS13c.3406T>C (p.Cys1136Arg)
c.3313T>C (p.Cys1105Arg)
c.-39T>C (n.-39T>C)
c.*875T>C (n.*875T>C)
c.3574T>C (p.Cys1192Arg)
n.2222T>C
n.2241T>C
c.3184T>C (p.Cys1062Arg)
c.3575T>C (p.Leu1192Pro)
c.2590T>C (p.Cys864Arg)
c.2584T>C (p.Cys862Arg)
c.2239T>C (p.Cys747Arg)
c.1840T>C (p.Cys614Arg)
c.3562T>C (p.Cys1188Arg)
n.2243T>C
 gnomAD v4 COSMIC
9g.133456074T>GCA375414669ADAMTS13c.3406T>G (p.Cys1136Gly)
c.3313T>G (p.Cys1105Gly)
c.-39T>G (n.-39T>G)
c.*875T>G (n.*875T>G)
c.3574T>G (p.Cys1192Gly)
n.2222T>G
n.2241T>G
c.3184T>G (p.Cys1062Gly)
c.3575T>G (p.Leu1192Arg)
c.2590T>G (p.Cys864Gly)
c.2584T>G (p.Cys862Gly)
c.2239T>G (p.Cys747Gly)
c.1840T>G (p.Cys614Gly)
c.3562T>G (p.Cys1188Gly)
n.2243T>G
9g.133456075G>ACA375414683ADAMTS13c.3407G>A (p.Cys1136Tyr)
c.3314G>A (p.Cys1105Tyr)
c.-38G>A (n.-38G>A)
c.*876G>A (n.*876G>A)
c.3575G>A (p.Cys1192Tyr)
n.2223G>A
n.2242G>A
c.3185G>A (p.Cys1062Tyr)
c.3576G>A (p.Leu1192=)
c.2591G>A (p.Cys864Tyr)
c.2585G>A (p.Cys862Tyr)
c.2240G>A (p.Cys747Tyr)
c.1841G>A (p.Cys614Tyr)
c.3563G>A (p.Cys1188Tyr)
n.2244G>A
 dbSNP gnomAD v3 gnomAD v4
9g.133456075G>CCA375414685ADAMTS13c.3407G>C (p.Cys1136Ser)
c.3314G>C (p.Cys1105Ser)
c.-38G>C (n.-38G>C)
c.*876G>C (n.*876G>C)
c.3575G>C (p.Cys1192Ser)
n.2223G>C
n.2242G>C
c.3185G>C (p.Cys1062Ser)
c.3576G>C (p.Leu1192=)
c.2591G>C (p.Cys864Ser)
c.2585G>C (p.Cys862Ser)
c.2240G>C (p.Cys747Ser)
c.1841G>C (p.Cys614Ser)
c.3563G>C (p.Cys1188Ser)
n.2244G>C
9g.133456075G=CA1882682425ADAMTS13c.3407G= (p.Cys1136=)
c.3314G= (p.Cys1105=)
c.-38G= (n.-38G=)
c.*876G= (n.*876G=)
c.3575G= (p.Cys1192=)
n.2223G=
n.2242G=
c.3185G= (p.Cys1062=)
c.3576G= (p.Leu1192=)
c.2591G= (p.Cys864=)
c.2585G= (p.Cys862=)
c.2240G= (p.Cys747=)
c.1841G= (p.Cys614=)
c.3563G= (p.Cys1188=)
n.2244G=
9g.133456075G>TCA375414687ADAMTS13c.3407G>T (p.Cys1136Phe)
c.3314G>T (p.Cys1105Phe)
c.-38G>T (n.-38G>T)
c.*876G>T (n.*876G>T)
c.3575G>T (p.Cys1192Phe)
n.2223G>T
n.2242G>T
c.3185G>T (p.Cys1062Phe)
c.3576G>T (p.Leu1192=)
c.2591G>T (p.Cys864Phe)
c.2585G>T (p.Cys862Phe)
c.2240G>T (p.Cys747Phe)
c.1841G>T (p.Cys614Phe)
c.3563G>T (p.Cys1188Phe)
n.2244G>T
9g.133456076T>ACA375414689ADAMTS13c.3408T>A (p.Cys1136Ter)
c.3315T>A (p.Cys1105Ter)
c.-37T>A (n.-37T>A)
c.*877T>A (n.*877T>A)
c.3576T>A (p.Cys1192Ter)
n.2224T>A
n.2243T>A
c.3186T>A (p.Cys1062Ter)
c.3577T>A (p.Trp1193Arg)
c.2592T>A (p.Cys864Ter)
c.2586T>A (p.Cys862Ter)
c.2241T>A (p.Cys747Ter)
c.1842T>A (p.Cys614Ter)
c.3564T>A (p.Cys1188Ter)
n.2245T>A
9g.133456076T>CCA1882682426ADAMTS13c.3408T>C (p.Cys1136=)
c.3315T>C (p.Cys1105=)
c.-37T>C (n.-37T>C)
c.*877T>C (n.*877T>C)
c.3576T>C (p.Cys1192=)
n.2224T>C
n.2243T>C
c.3186T>C (p.Cys1062=)
c.3577T>C (p.Trp1193Arg)
c.2592T>C (p.Cys864=)
c.2586T>C (p.Cys862=)
c.2241T>C (p.Cys747=)
c.1842T>C (p.Cys614=)
c.3564T>C (p.Cys1188=)
n.2245T>C
 dbSNP
9g.133456076T>GCA375414691ADAMTS13c.3408T>G (p.Cys1136Trp)
c.3315T>G (p.Cys1105Trp)
c.-37T>G (n.-37T>G)
c.*877T>G (n.*877T>G)
c.3576T>G (p.Cys1192Trp)
n.2224T>G
n.2243T>G
c.3186T>G (p.Cys1062Trp)
c.3577T>G (p.Trp1193Gly)
c.2592T>G (p.Cys864Trp)
c.2586T>G (p.Cys862Trp)
c.2241T>G (p.Cys747Trp)
c.1842T>G (p.Cys614Trp)
c.3564T>G (p.Cys1188Trp)
n.2245T>G
9g.133456076T=CA1882682427ADAMTS13c.3408T= (p.Cys1136=)
c.3315T= (p.Cys1105=)
c.-37T= (n.-37T=)
c.*877T= (n.*877T=)
c.3576T= (p.Cys1192=)
n.2224T=
n.2243T=
c.3186T= (p.Cys1062=)
c.3577T= (p.Trp1193=)
c.2592T= (p.Cys864=)
c.2586T= (p.Cys862=)
c.2241T= (p.Cys747=)
c.1842T= (p.Cys614=)
c.3564T= (p.Cys1188=)
n.2245T=
9g.133456077G>ACA375414694ADAMTS13c.3409G>A (p.Gly1137Ser)
c.3316G>A (p.Gly1106Ser)
c.-36G>A (n.-36G>A)
c.*878G>A (n.*878G>A)
c.3577G>A (p.Gly1193Ser)
n.2225G>A
n.2244G>A
c.3187G>A (p.Gly1063Ser)
c.3578G>A (p.Trp1193Ter)
c.2593G>A (p.Gly865Ser)
c.2587G>A (p.Gly863Ser)
c.2242G>A (p.Gly748Ser)
c.1843G>A (p.Gly615Ser)
c.3565G>A (p.Gly1189Ser)
n.2246G>A
9g.133456077G>CCA375414703ADAMTS13c.3409G>C (p.Gly1137Arg)
c.3316G>C (p.Gly1106Arg)
c.-36G>C (n.-36G>C)
c.*878G>C (n.*878G>C)
c.3577G>C (p.Gly1193Arg)
n.2225G>C
n.2244G>C
c.3187G>C (p.Gly1063Arg)
c.3578G>C (p.Trp1193Ser)
c.2593G>C (p.Gly865Arg)
c.2587G>C (p.Gly863Arg)
c.2242G>C (p.Gly748Arg)
c.1843G>C (p.Gly615Arg)
c.3565G>C (p.Gly1189Arg)
n.2246G>C
9g.133456077G>TCA375414708ADAMTS13c.3409G>T (p.Gly1137Cys)
c.3316G>T (p.Gly1106Cys)
c.-36G>T (n.-36G>T)
c.*878G>T (n.*878G>T)
c.3577G>T (p.Gly1193Cys)
n.2225G>T
n.2244G>T
c.3187G>T (p.Gly1063Cys)
c.3578G>T (p.Trp1193Leu)
c.2593G>T (p.Gly865Cys)
c.2587G>T (p.Gly863Cys)
c.2242G>T (p.Gly748Cys)
c.1843G>T (p.Gly615Cys)
c.3565G>T (p.Gly1189Cys)
n.2246G>T
9g.133456082_133456085dupCA2838312000ADAMTS13c.3414_3417dup (p.His1140AlafsTer4)
c.3321_3324dup (p.His1109AlafsTer4)
c.-31_-28dup (n.-31_-28dup)
c.*883_*886dup (n.*883_*886dup)
c.3582_3585dup (p.His1196AlafsTer4)
n.2230_2233dup
n.2249_2252dup
c.3192_3195dup (p.His1066AlafsTer4)
c.3583_3586dup (p.Ala1196GlyfsTer?)
c.2598_2601dup (p.His868AlafsTer4)
c.2592_2595dup (p.His866AlafsTer4)
c.2247_2250dup (p.His751AlafsTer4)
c.1848_1851dup (p.His618AlafsTer4)
c.3570_3573dup (p.His1192AlafsTer4)
n.2251_2254dup
9g.133456078G>ACA375414718ADAMTS13c.3410G>A (p.Gly1137Asp)
c.3317G>A (p.Gly1106Asp)
c.-35G>A (n.-35G>A)
c.*879G>A (n.*879G>A)
c.3578G>A (p.Gly1193Asp)
n.2226G>A
n.2245G>A
c.3188G>A (p.Gly1063Asp)
c.3579G>A (p.Trp1193Ter)
c.2594G>A (p.Gly865Asp)
c.2588G>A (p.Gly863Asp)
c.2243G>A (p.Gly748Asp)
c.1844G>A (p.Gly615Asp)
c.3566G>A (p.Gly1189Asp)
n.2247G>A
 dbSNP gnomAD v3 gnomAD v4
9g.133456078G>CCA375414719ADAMTS13c.3410G>C (p.Gly1137Ala)
c.3317G>C (p.Gly1106Ala)
c.-35G>C (n.-35G>C)
c.*879G>C (n.*879G>C)
c.3578G>C (p.Gly1193Ala)
n.2226G>C
n.2245G>C
c.3188G>C (p.Gly1063Ala)
c.3579G>C (p.Trp1193Cys)
c.2594G>C (p.Gly865Ala)
c.2588G>C (p.Gly863Ala)
c.2243G>C (p.Gly748Ala)
c.1844G>C (p.Gly615Ala)
c.3566G>C (p.Gly1189Ala)
n.2247G>C
9g.133456078G=CA1882682428ADAMTS13c.3410G= (p.Gly1137=)
c.3317G= (p.Gly1106=)
c.-35G= (n.-35G=)
c.*879G= (n.*879G=)
c.3578G= (p.Gly1193=)
n.2226G=
n.2245G=
c.3188G= (p.Gly1063=)
c.3579G= (p.Trp1193=)
c.2594G= (p.Gly865=)
c.2588G= (p.Gly863=)
c.2243G= (p.Gly748=)
c.1844G= (p.Gly615=)
c.3566G= (p.Gly1189=)
n.2247G=
9g.133456078G>TCA375414720ADAMTS13c.3410G>T (p.Gly1137Val)
c.3317G>T (p.Gly1106Val)
c.-35G>T (n.-35G>T)
c.*879G>T (n.*879G>T)
c.3578G>T (p.Gly1193Val)
n.2226G>T
n.2245G>T
c.3188G>T (p.Gly1063Val)
c.3579G>T (p.Trp1193Cys)
c.2594G>T (p.Gly865Val)
c.2588G>T (p.Gly863Val)
c.2243G>T (p.Gly748Val)
c.1844G>T (p.Gly615Val)
c.3566G>T (p.Gly1189Val)
n.2247G>T
9g.133456079C=CA1882682429ADAMTS13c.3411C= (p.Gly1137=)
c.3318C= (p.Gly1106=)
c.-34C= (n.-34C=)
c.*880C= (n.*880C=)
c.3579C= (p.Gly1193=)
n.2227C=
n.2246C=
c.3189C= (p.Gly1063=)
c.3580C= (p.Gln1194=)
c.2595C= (p.Gly865=)
c.2589C= (p.Gly863=)
c.2244C= (p.Gly748=)
c.1845C= (p.Gly615=)
c.3567C= (p.Gly1189=)
n.2248C=
9g.133456079C>TCA200944709ADAMTS13c.3411C>T (p.Gly1137=)
c.3318C>T (p.Gly1106=)
c.-34C>T (n.-34C>T)
c.*880C>T (n.*880C>T)
c.3579C>T (p.Gly1193=)
n.2227C>T
n.2246C>T
c.3189C>T (p.Gly1063=)
c.3580C>T (p.Gln1194Ter)
c.2595C>T (p.Gly865=)
c.2589C>T (p.Gly863=)
c.2244C>T (p.Gly748=)
c.1845C>T (p.Gly615=)
c.3567C>T (p.Gly1189=)
n.2248C>T
 dbSNP gnomAD v4
9g.133456080A=CA1882682430ADAMTS13c.3412A= (p.Arg1138=)
c.3319A= (p.Arg1107=)
c.-33A= (n.-33A=)
c.*881A= (n.*881A=)
c.3580A= (p.Arg1194=)
n.2228A=
n.2247A=
c.3190A= (p.Arg1064=)
c.3581A= (p.Gln1194=)
c.2596A= (p.Arg866=)
c.2590A= (p.Arg864=)
c.2245A= (p.Arg749=)
c.1846A= (p.Arg616=)
c.3568A= (p.Arg1190=)
n.2249A=
9g.133456080A>GCA375414726ADAMTS13c.3412A>G (p.Arg1138Gly)
c.3319A>G (p.Arg1107Gly)
c.-33A>G (n.-33A>G)
c.*881A>G (n.*881A>G)
c.3580A>G (p.Arg1194Gly)
n.2228A>G
n.2247A>G
c.3190A>G (p.Arg1064Gly)
c.3581A>G (p.Gln1194Arg)
c.2596A>G (p.Arg866Gly)
c.2590A>G (p.Arg864Gly)
c.2245A>G (p.Arg749Gly)
c.1846A>G (p.Arg616Gly)
c.3568A>G (p.Arg1190Gly)
n.2249A>G
 dbSNP gnomAD v4
9g.133456080A>TCA375414728ADAMTS13c.3412A>T (p.Arg1138Trp)
c.3319A>T (p.Arg1107Trp)
c.-33A>T (n.-33A>T)
c.*881A>T (n.*881A>T)
c.3580A>T (p.Arg1194Trp)
n.2228A>T
n.2247A>T
c.3190A>T (p.Arg1064Trp)
c.3581A>T (p.Gln1194Leu)
c.2596A>T (p.Arg866Trp)
c.2590A>T (p.Arg864Trp)
c.2245A>T (p.Arg749Trp)
c.1846A>T (p.Arg616Trp)
c.3568A>T (p.Arg1190Trp)
n.2249A>T
9g.133456081G>ACA375414734ADAMTS13c.3413G>A (p.Arg1138Lys)
c.3320G>A (p.Arg1107Lys)
c.-32G>A (n.-32G>A)
c.*882G>A (n.*882G>A)
c.3581G>A (p.Arg1194Lys)
n.2229G>A
n.2248G>A
c.3191G>A (p.Arg1064Lys)
c.3582G>A (p.Gln1194=)
c.2597G>A (p.Arg866Lys)
c.2591G>A (p.Arg864Lys)
c.2246G>A (p.Arg749Lys)
c.1847G>A (p.Arg616Lys)
c.3569G>A (p.Arg1190Lys)
n.2250G>A
9g.133456081G>CCA375414736ADAMTS13c.3413G>C (p.Arg1138Thr)
c.3320G>C (p.Arg1107Thr)
c.-32G>C (n.-32G>C)
c.*882G>C (n.*882G>C)
c.3581G>C (p.Arg1194Thr)
n.2229G>C
n.2248G>C
c.3191G>C (p.Arg1064Thr)
c.3582G>C (p.Gln1194His)
c.2597G>C (p.Arg866Thr)
c.2591G>C (p.Arg864Thr)
c.2246G>C (p.Arg749Thr)
c.1847G>C (p.Arg616Thr)
c.3569G>C (p.Arg1190Thr)
n.2250G>C
9g.133456081G>TCA375414738ADAMTS13c.3413G>T (p.Arg1138Met)
c.3320G>T (p.Arg1107Met)
c.-32G>T (n.-32G>T)
c.*882G>T (n.*882G>T)
c.3581G>T (p.Arg1194Met)
n.2229G>T
n.2248G>T
c.3191G>T (p.Arg1064Met)
c.3582G>T (p.Gln1194His)
c.2597G>T (p.Arg866Met)
c.2591G>T (p.Arg864Met)
c.2246G>T (p.Arg749Met)
c.1847G>T (p.Arg616Met)
c.3569G>T (p.Arg1190Met)
n.2250G>T
9g.133456082G>CCA375414740ADAMTS13c.3414G>C (p.Arg1138Ser)
c.3321G>C (p.Arg1107Ser)
c.-31G>C (n.-31G>C)
c.*883G>C (n.*883G>C)
c.3582G>C (p.Arg1194Ser)
n.2230G>C
n.2249G>C
c.3192G>C (p.Arg1064Ser)
c.3583G>C (p.Ala1195Pro)
c.2598G>C (p.Arg866Ser)
c.2592G>C (p.Arg864Ser)
c.2247G>C (p.Arg749Ser)
c.1848G>C (p.Arg616Ser)
c.3570G>C (p.Arg1190Ser)
n.2251G>C
9g.133456082G>TCA375414742ADAMTS13c.3414G>T (p.Arg1138Ser)
c.3321G>T (p.Arg1107Ser)
c.-31G>T (n.-31G>T)
c.*883G>T (n.*883G>T)
c.3582G>T (p.Arg1194Ser)
n.2230G>T
n.2249G>T
c.3192G>T (p.Arg1064Ser)
c.3583G>T (p.Ala1195Ser)
c.2598G>T (p.Arg866Ser)
c.2592G>T (p.Arg864Ser)
c.2247G>T (p.Arg749Ser)
c.1848G>T (p.Arg616Ser)
c.3570G>T (p.Arg1190Ser)
n.2251G>T
9g.133456083C>ACA375414745ADAMTS13c.3415C>A (p.Gln1139Lys)
c.3322C>A (p.Gln1108Lys)
c.-30C>A (n.-30C>A)
c.*884C>A (n.*884C>A)
c.3583C>A (p.Gln1195Lys)
n.2231C>A
n.2250C>A
c.3193C>A (p.Gln1065Lys)
c.3584C>A (p.Ala1195Glu)
c.2599C>A (p.Gln867Lys)
c.2593C>A (p.Gln865Lys)
c.2248C>A (p.Gln750Lys)
c.1849C>A (p.Gln617Lys)
c.3571C>A (p.Gln1191Lys)
n.2252C>A
9g.133456083C=CA1882682431ADAMTS13c.3415C= (p.Gln1139=)
c.3322C= (p.Gln1108=)
c.-30C= (n.-30C=)
c.*884C= (n.*884C=)
c.3583C= (p.Gln1195=)
n.2231C=
n.2250C=
c.3193C= (p.Gln1065=)
c.3584C= (p.Ala1195=)
c.2599C= (p.Gln867=)
c.2593C= (p.Gln865=)
c.2248C= (p.Gln750=)
c.1849C= (p.Gln617=)
c.3571C= (p.Gln1191=)
n.2252C=
9g.133456083C>GCA375414749ADAMTS13c.3415C>G (p.Gln1139Glu)
c.3322C>G (p.Gln1108Glu)
c.-30C>G (n.-30C>G)
c.*884C>G (n.*884C>G)
c.3583C>G (p.Gln1195Glu)
n.2231C>G
n.2250C>G
c.3193C>G (p.Gln1065Glu)
c.3584C>G (p.Ala1195Gly)
c.2599C>G (p.Gln867Glu)
c.2593C>G (p.Gln865Glu)
c.2248C>G (p.Gln750Glu)
c.1849C>G (p.Gln617Glu)
c.3571C>G (p.Gln1191Glu)
n.2252C>G
 dbSNP
9g.133456083C>TCA375414758ADAMTS13c.3415C>T (p.Gln1139Ter)
c.3322C>T (p.Gln1108Ter)
c.-30C>T (n.-30C>T)
c.*884C>T (n.*884C>T)
c.3583C>T (p.Gln1195Ter)
n.2231C>T
n.2250C>T
c.3193C>T (p.Gln1065Ter)
c.3584C>T (p.Ala1195Val)
c.2599C>T (p.Gln867Ter)
c.2593C>T (p.Gln865Ter)
c.2248C>T (p.Gln750Ter)
c.1849C>T (p.Gln617Ter)
c.3571C>T (p.Gln1191Ter)
n.2252C>T
9g.133456084A>CCA375414761ADAMTS13c.3416A>C (p.Gln1139Pro)
c.3323A>C (p.Gln1108Pro)
c.-29A>C (n.-29A>C)
c.*885A>C (n.*885A>C)
c.3584A>C (p.Gln1195Pro)
n.2232A>C
n.2251A>C
c.3194A>C (p.Gln1065Pro)
c.3585A>C (p.Ala1195=)
c.2600A>C (p.Gln867Pro)
c.2594A>C (p.Gln865Pro)
c.2249A>C (p.Gln750Pro)
c.1850A>C (p.Gln617Pro)
c.3572A>C (p.Gln1191Pro)
n.2253A>C
9g.133456084A>GCA375414762ADAMTS13c.3416A>G (p.Gln1139Arg)
c.3323A>G (p.Gln1108Arg)
c.-29A>G (n.-29A>G)
c.*885A>G (n.*885A>G)
c.3584A>G (p.Gln1195Arg)
n.2232A>G
n.2251A>G
c.3194A>G (p.Gln1065Arg)
c.3585A>G (p.Ala1195=)
c.2600A>G (p.Gln867Arg)
c.2594A>G (p.Gln865Arg)
c.2249A>G (p.Gln750Arg)
c.1850A>G (p.Gln617Arg)
c.3572A>G (p.Gln1191Arg)
n.2253A>G
9g.133456084A>TCA375414764ADAMTS13c.3416A>T (p.Gln1139Leu)
c.3323A>T (p.Gln1108Leu)
c.-29A>T (n.-29A>T)
c.*885A>T (n.*885A>T)
c.3584A>T (p.Gln1195Leu)
n.2232A>T
n.2251A>T
c.3194A>T (p.Gln1065Leu)
c.3585A>T (p.Ala1195=)
c.2600A>T (p.Gln867Leu)
c.2594A>T (p.Gln865Leu)
c.2249A>T (p.Gln750Leu)
c.1850A>T (p.Gln617Leu)
c.3572A>T (p.Gln1191Leu)
n.2253A>T
9g.133456085G>CCA375414767ADAMTS13c.3417G>C (p.Gln1139His)
c.3324G>C (p.Gln1108His)
c.-28G>C (n.-28G>C)
c.*886G>C (n.*886G>C)
c.3585G>C (p.Gln1195His)
n.2233G>C
n.2252G>C
c.3195G>C (p.Gln1065His)
c.3586G>C (p.Ala1196Pro)
c.2601G>C (p.Gln867His)
c.2595G>C (p.Gln865His)
c.2250G>C (p.Gln750His)
c.1851G>C (p.Gln617His)
c.3573G>C (p.Gln1191His)
n.2254G>C
9g.133456085G>TCA375414768ADAMTS13c.3417G>T (p.Gln1139His)
c.3324G>T (p.Gln1108His)
c.-28G>T (n.-28G>T)
c.*886G>T (n.*886G>T)
c.3585G>T (p.Gln1195His)
n.2233G>T
n.2252G>T
c.3195G>T (p.Gln1065His)
c.3586G>T (p.Ala1196Ser)
c.2601G>T (p.Gln867His)
c.2595G>T (p.Gln865His)
c.2250G>T (p.Gln750His)
c.1851G>T (p.Gln617His)
c.3573G>T (p.Gln1191His)
n.2254G>T
9g.133456086C>ACA375414769ADAMTS13c.3418C>A (p.His1140Asn)
c.3325C>A (p.His1109Asn)
c.-27C>A (n.-27C>A)
c.*887C>A (n.*887C>A)
c.3586C>A (p.His1196Asn)
n.2234C>A
n.2253C>A
c.3196C>A (p.His1066Asn)
c.3587C>A (p.Ala1196Glu)
c.2602C>A (p.His868Asn)
c.2596C>A (p.His866Asn)
c.2251C>A (p.His751Asn)
c.1852C>A (p.His618Asn)
c.3574C>A (p.His1192Asn)
n.2255C>A
9g.133456086C=CA1882682432ADAMTS13c.3418C= (p.His1140=)
c.3325C= (p.His1109=)
c.-27C= (n.-27C=)
c.*887C= (n.*887C=)
c.3586C= (p.His1196=)
n.2234C=
n.2253C=
c.3196C= (p.His1066=)
c.3587C= (p.Ala1196=)
c.2602C= (p.His868=)
c.2596C= (p.His866=)
c.2251C= (p.His751=)
c.1852C= (p.His618=)
c.3574C= (p.His1192=)
n.2255C=
9g.133456086C>GCA375414771ADAMTS13c.3418C>G (p.His1140Asp)
c.3325C>G (p.His1109Asp)
c.-27C>G (n.-27C>G)
c.*887C>G (n.*887C>G)
c.3586C>G (p.His1196Asp)
n.2234C>G
n.2253C>G
c.3196C>G (p.His1066Asp)
c.3587C>G (p.Ala1196Gly)
c.2602C>G (p.His868Asp)
c.2596C>G (p.His866Asp)
c.2251C>G (p.His751Asp)
c.1852C>G (p.His618Asp)
c.3574C>G (p.His1192Asp)
n.2255C>G
9g.133456086C>TCA375414770ADAMTS13c.3418C>T (p.His1140Tyr)
c.3325C>T (p.His1109Tyr)
c.-27C>T (n.-27C>T)
c.*887C>T (n.*887C>T)
c.3586C>T (p.His1196Tyr)
n.2234C>T
n.2253C>T
c.3196C>T (p.His1066Tyr)
c.3587C>T (p.Ala1196Val)
c.2602C>T (p.His868Tyr)
c.2596C>T (p.His866Tyr)
c.2251C>T (p.His751Tyr)
c.1852C>T (p.His618Tyr)
c.3574C>T (p.His1192Tyr)
n.2255C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456087delCA2695211628ADAMTS13c.3419del (p.His1140ProfsTer30)
c.3326del (p.His1109ProfsTer30)
c.-26del (n.-26del)
c.*888del (n.*888del)
c.3587del (p.His1196ProfsTer30)
n.2235del
n.2254del
c.3197del (p.His1066ProfsTer30)
c.3588del (p.Pro1197LeufsTer?)
c.2603del (p.His868ProfsTer30)
c.2597del (p.His866ProfsTer30)
c.2252del (p.His751ProfsTer30)
c.1853del (p.His618ProfsTer30)
c.3575del (p.His1192ProfsTer30)
n.2256del
9g.133456087A=CA1882682433ADAMTS13c.3419A= (p.His1140=)
c.3326A= (p.His1109=)
c.-26A= (n.-26A=)
c.*888A= (n.*888A=)
c.3587A= (p.His1196=)
n.2235A=
n.2254A=
c.3197A= (p.His1066=)
c.3588A= (p.Ala1196=)
c.2603A= (p.His868=)
c.2597A= (p.His866=)
c.2252A= (p.His751=)
c.1853A= (p.His618=)
c.3575A= (p.His1192=)
n.2256A=
9g.133456087A>CCA375414782ADAMTS13c.3419A>C (p.His1140Pro)
c.3326A>C (p.His1109Pro)
c.-26A>C (n.-26A>C)
c.*888A>C (n.*888A>C)
c.3587A>C (p.His1196Pro)
n.2235A>C
n.2254A>C
c.3197A>C (p.His1066Pro)
c.3588A>C (p.Ala1196=)
c.2603A>C (p.His868Pro)
c.2597A>C (p.His866Pro)
c.2252A>C (p.His751Pro)
c.1853A>C (p.His618Pro)
c.3575A>C (p.His1192Pro)
n.2256A>C
9g.133456087A>GCA375414784ADAMTS13c.3419A>G (p.His1140Arg)
c.3326A>G (p.His1109Arg)
c.-26A>G (n.-26A>G)
c.*888A>G (n.*888A>G)
c.3587A>G (p.His1196Arg)
n.2235A>G
n.2254A>G
c.3197A>G (p.His1066Arg)
c.3588A>G (p.Ala1196=)
c.2603A>G (p.His868Arg)
c.2597A>G (p.His866Arg)
c.2252A>G (p.His751Arg)
c.1853A>G (p.His618Arg)
c.3575A>G (p.His1192Arg)
n.2256A>G
9g.133456087A>TCA375414788ADAMTS13c.3419A>T (p.His1140Leu)
c.3326A>T (p.His1109Leu)
c.-26A>T (n.-26A>T)
c.*888A>T (n.*888A>T)
c.3587A>T (p.His1196Leu)
n.2235A>T
n.2254A>T
c.3197A>T (p.His1066Leu)
c.3588A>T (p.Ala1196=)
c.2603A>T (p.His868Leu)
c.2597A>T (p.His866Leu)
c.2252A>T (p.His751Leu)
c.1853A>T (p.His618Leu)
c.3575A>T (p.His1192Leu)
n.2256A>T
 dbSNP gnomAD v4
9g.133456088C>ACA200944713ADAMTS13c.3420C>A (p.His1140Gln)
c.3327C>A (p.His1109Gln)
c.-25C>A (n.-25C>A)
c.*889C>A (n.*889C>A)
c.3588C>A (p.His1196Gln)
n.2236C>A
n.2255C>A
c.3198C>A (p.His1066Gln)
c.3589C>A (p.Pro1197Thr)
c.2604C>A (p.His868Gln)
c.2598C>A (p.His866Gln)
c.2253C>A (p.His751Gln)
c.1854C>A (p.His618Gln)
c.3576C>A (p.His1192Gln)
n.2257C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456088C=CA1882682434ADAMTS13c.3420C= (p.His1140=)
c.3327C= (p.His1109=)
c.-25C= (n.-25C=)
c.*889C= (n.*889C=)
c.3588C= (p.His1196=)
n.2236C=
n.2255C=
c.3198C= (p.His1066=)
c.3589C= (p.Pro1197=)
c.2604C= (p.His868=)
c.2598C= (p.His866=)
c.2253C= (p.His751=)
c.1854C= (p.His618=)
c.3576C= (p.His1192=)
n.2257C=
9g.133456088C>GCA375414793ADAMTS13c.3420C>G (p.His1140Gln)
c.3327C>G (p.His1109Gln)
c.-25C>G (n.-25C>G)
c.*889C>G (n.*889C>G)
c.3588C>G (p.His1196Gln)
n.2236C>G
n.2255C>G
c.3198C>G (p.His1066Gln)
c.3589C>G (p.Pro1197Ala)
c.2604C>G (p.His868Gln)
c.2598C>G (p.His866Gln)
c.2253C>G (p.His751Gln)
c.1854C>G (p.His618Gln)
c.3576C>G (p.His1192Gln)
n.2257C>G
9g.133456088C>TCA2838013372ADAMTS13c.3420C>T (p.His1140=)
c.3327C>T (p.His1109=)
c.-25C>T (n.-25C>T)
c.*889C>T (n.*889C>T)
c.3588C>T (p.His1196=)
n.2236C>T
n.2255C>T
c.3198C>T (p.His1066=)
c.3589C>T (p.Pro1197Ser)
c.2604C>T (p.His868=)
c.2598C>T (p.His866=)
c.2253C>T (p.His751=)
c.1854C>T (p.His618=)
c.3576C>T (p.His1192=)
n.2257C>T
9g.133456089C>ACA375414799ADAMTS13c.3421C>A (p.Leu1141Ile)
c.3328C>A (p.Leu1110Ile)
c.-24C>A (n.-24C>A)
c.*890C>A (n.*890C>A)
c.3589C>A (p.Leu1197Ile)
n.2237C>A
n.2256C>A
c.3199C>A (p.Leu1067Ile)
c.3590C>A (p.Pro1197His)
c.2605C>A (p.Leu869Ile)
c.2599C>A (p.Leu867Ile)
c.2254C>A (p.Leu752Ile)
c.1855C>A (p.Leu619Ile)
c.3577C>A (p.Leu1193Ile)
n.2258C>A
9g.133456089C>GCA375414804ADAMTS13c.3421C>G (p.Leu1141Val)
c.3328C>G (p.Leu1110Val)
c.-24C>G (n.-24C>G)
c.*890C>G (n.*890C>G)
c.3589C>G (p.Leu1197Val)
n.2237C>G
n.2256C>G
c.3199C>G (p.Leu1067Val)
c.3590C>G (p.Pro1197Arg)
c.2605C>G (p.Leu869Val)
c.2599C>G (p.Leu867Val)
c.2254C>G (p.Leu752Val)
c.1855C>G (p.Leu619Val)
c.3577C>G (p.Leu1193Val)
n.2258C>G
9g.133456089C>TCA375414806ADAMTS13c.3421C>T (p.Leu1141Phe)
c.3328C>T (p.Leu1110Phe)
c.-24C>T (n.-24C>T)
c.*890C>T (n.*890C>T)
c.3589C>T (p.Leu1197Phe)
n.2237C>T
n.2256C>T
c.3199C>T (p.Leu1067Phe)
c.3590C>T (p.Pro1197Leu)
c.2605C>T (p.Leu869Phe)
c.2599C>T (p.Leu867Phe)
c.2254C>T (p.Leu752Phe)
c.1855C>T (p.Leu619Phe)
c.3577C>T (p.Leu1193Phe)
n.2258C>T
 gnomAD v4
9g.133456090T>ACA375414809ADAMTS13c.3422T>A (p.Leu1141His)
c.3329T>A (p.Leu1110His)
c.-23T>A (n.-23T>A)
c.*891T>A (n.*891T>A)
c.3590T>A (p.Leu1197His)
n.2238T>A
n.2257T>A
c.3200T>A (p.Leu1067His)
c.3591T>A (p.Pro1197=)
c.2606T>A (p.Leu869His)
c.2600T>A (p.Leu867His)
c.2255T>A (p.Leu752His)
c.1856T>A (p.Leu619His)
c.3578T>A (p.Leu1193His)
n.2259T>A
9g.133456090T>CCA375414810ADAMTS13c.3422T>C (p.Leu1141Pro)
c.3329T>C (p.Leu1110Pro)
c.-23T>C (n.-23T>C)
c.*891T>C (n.*891T>C)
c.3590T>C (p.Leu1197Pro)
n.2238T>C
n.2257T>C
c.3200T>C (p.Leu1067Pro)
c.3591T>C (p.Pro1197=)
c.2606T>C (p.Leu869Pro)
c.2600T>C (p.Leu867Pro)
c.2255T>C (p.Leu752Pro)
c.1856T>C (p.Leu619Pro)
c.3578T>C (p.Leu1193Pro)
n.2259T>C
9g.133456090T>GCA375414813ADAMTS13c.3422T>G (p.Leu1141Arg)
c.3329T>G (p.Leu1110Arg)
c.-23T>G (n.-23T>G)
c.*891T>G (n.*891T>G)
c.3590T>G (p.Leu1197Arg)
n.2238T>G
n.2257T>G
c.3200T>G (p.Leu1067Arg)
c.3591T>G (p.Pro1197=)
c.2606T>G (p.Leu869Arg)
c.2600T>G (p.Leu867Arg)
c.2255T>G (p.Leu752Arg)
c.1856T>G (p.Leu619Arg)
c.3578T>G (p.Leu1193Arg)
n.2259T>G
9g.133456091T>CCA2692365818ADAMTS13c.3423T>C (p.Leu1141=)
c.3330T>C (p.Leu1110=)
c.-22T>C (n.-22T>C)
c.*892T>C (n.*892T>C)
c.3591T>C (p.Leu1197=)
n.2239T>C
n.2258T>C
c.3201T>C (p.Leu1067=)
c.3592T>C (p.Ter1198Arg)
c.2607T>C (p.Leu869=)
c.2601T>C (p.Leu867=)
c.2256T>C (p.Leu752=)
c.1857T>C (p.Leu619=)
c.3579T>C (p.Leu1193=)
n.2260T>C
 gnomAD v4
9g.133456091T>GCA2579547234ADAMTS13c.3423T>G (p.Leu1141=)
c.3330T>G (p.Leu1110=)
c.-22T>G (n.-22T>G)
c.*892T>G (n.*892T>G)
c.3591T>G (p.Leu1197=)
n.2239T>G
n.2258T>G
c.3201T>G (p.Leu1067=)
c.3592T>G (p.Ter1198Gly)
c.2607T>G (p.Leu869=)
c.2601T>G (p.Leu867=)
c.2256T>G (p.Leu752=)
c.1857T>G (p.Leu619=)
c.3579T>G (p.Leu1193=)
n.2260T>G
 dbSNP gnomAD v4
9g.133456092G>ACA375414820ADAMTS13c.3424G>A (p.Glu1142Lys)
c.3331G>A (p.Glu1111Lys)
c.-21G>A (n.-21G>A)
c.*893G>A (n.*893G>A)
c.3592G>A (p.Glu1198Lys)
n.2240G>A
n.2259G>A
c.3202G>A (p.Glu1068Lys)
c.3593G>A (p.Ter1198=)
c.2608G>A (p.Glu870Lys)
c.2602G>A (p.Glu868Lys)
c.2257G>A (p.Glu753Lys)
c.1858G>A (p.Glu620Lys)
c.3580G>A (p.Glu1194Lys)
n.2261G>A
 gnomAD v4
9g.133456092G>CCA375414822ADAMTS13c.3424G>C (p.Glu1142Gln)
c.3331G>C (p.Glu1111Gln)
c.-21G>C (n.-21G>C)
c.*893G>C (n.*893G>C)
c.3592G>C (p.Glu1198Gln)
n.2240G>C
n.2259G>C
c.3202G>C (p.Glu1068Gln)
c.3593G>C (p.Ter1198Ser)
c.2608G>C (p.Glu870Gln)
c.2602G>C (p.Glu868Gln)
c.2257G>C (p.Glu753Gln)
c.1858G>C (p.Glu620Gln)
c.3580G>C (p.Glu1194Gln)
n.2261G>C
9g.133456092G>TCA375414817ADAMTS13c.3424G>T (p.Glu1142Ter)
c.3331G>T (p.Glu1111Ter)
c.-21G>T (n.-21G>T)
c.*893G>T (n.*893G>T)
c.3592G>T (p.Glu1198Ter)
n.2240G>T
n.2259G>T
c.3202G>T (p.Glu1068Ter)
c.3593G>T (p.Ter1198Leu)
c.2608G>T (p.Glu870Ter)
c.2602G>T (p.Glu868Ter)
c.2257G>T (p.Glu753Ter)
c.1858G>T (p.Glu620Ter)
c.3580G>T (p.Glu1194Ter)
n.2261G>T
9g.133456093A>CCA375414836ADAMTS13c.3425A>C (p.Glu1142Ala)
c.3332A>C (p.Glu1111Ala)
c.-20A>C (n.-20A>C)
c.*894A>C (n.*894A>C)
c.3593A>C (p.Glu1198Ala)
n.2241A>C
n.2260A>C
c.3203A>C (p.Glu1068Ala)
c.3594A>C (p.Ter1198Cys)
c.2609A>C (p.Glu870Ala)
c.2603A>C (p.Glu868Ala)
c.2258A>C (p.Glu753Ala)
c.1859A>C (p.Glu620Ala)
c.3581A>C (p.Glu1194Ala)
n.2262A>C
9g.133456093A>GCA375414826ADAMTS13c.3425A>G (p.Glu1142Gly)
c.3332A>G (p.Glu1111Gly)
c.-20A>G (n.-20A>G)
c.*894A>G (n.*894A>G)
c.3593A>G (p.Glu1198Gly)
n.2241A>G
n.2260A>G
c.3203A>G (p.Glu1068Gly)
c.3594A>G (p.Ter1198Trp)
c.2609A>G (p.Glu870Gly)
c.2603A>G (p.Glu868Gly)
c.2258A>G (p.Glu753Gly)
c.1859A>G (p.Glu620Gly)
c.3581A>G (p.Glu1194Gly)
n.2262A>G
9g.133456093A>TCA375414828ADAMTS13c.3425A>T (p.Glu1142Val)
c.3332A>T (p.Glu1111Val)
c.-20A>T (n.-20A>T)
c.*894A>T (n.*894A>T)
c.3593A>T (p.Glu1198Val)
n.2241A>T
n.2260A>T
c.3203A>T (p.Glu1068Val)
c.3594A>T (p.Ter1198Cys)
c.2609A>T (p.Glu870Val)
c.2603A>T (p.Glu868Val)
c.2258A>T (p.Glu753Val)
c.1859A>T (p.Glu620Val)
c.3581A>T (p.Glu1194Val)
n.2262A>T
9g.133456094G>ACA860744088ADAMTS13c.3426G>A (p.Glu1142=)
c.3333G>A (p.Glu1111=)
c.-19G>A (n.-19G>A)
c.*895G>A (n.*895G>A)
c.3594G>A (p.Glu1198=)
n.2242G>A
n.2261G>A
c.3204G>A (p.Glu1068=)
c.*1G>A (n.*1G>A)
c.2610G>A (p.Glu870=)
c.2604G>A (p.Glu868=)
c.2259G>A (p.Glu753=)
c.1860G>A (p.Glu620=)
c.3582G>A (p.Glu1194=)
n.2263G>A
 dbSNP
9g.133456094G>CCA375414837ADAMTS13c.3426G>C (p.Glu1142Asp)
c.3333G>C (p.Glu1111Asp)
c.-19G>C (n.-19G>C)
c.*895G>C (n.*895G>C)
c.3594G>C (p.Glu1198Asp)
n.2242G>C
n.2261G>C
c.3204G>C (p.Glu1068Asp)
c.*1G>C (n.*1G>C)
c.2610G>C (p.Glu870Asp)
c.2604G>C (p.Glu868Asp)
c.2259G>C (p.Glu753Asp)
c.1860G>C (p.Glu620Asp)
c.3582G>C (p.Glu1194Asp)
n.2263G>C
9g.133456094G=CA1882682435ADAMTS13c.3426G= (p.Glu1142=)
c.3333G= (p.Glu1111=)
c.-19G= (n.-19G=)
c.*895G= (n.*895G=)
c.3594G= (p.Glu1198=)
n.2242G=
n.2261G=
c.3204G= (p.Glu1068=)
c.*1G= (n.*1G=)
c.2610G= (p.Glu870=)
c.2604G= (p.Glu868=)
c.2259G= (p.Glu753=)
c.1860G= (p.Glu620=)
c.3582G= (p.Glu1194=)
n.2263G=
9g.133456094G>TCA375414838ADAMTS13c.3426G>T (p.Glu1142Asp)
c.3333G>T (p.Glu1111Asp)
c.-19G>T (n.-19G>T)
c.*895G>T (n.*895G>T)
c.3594G>T (p.Glu1198Asp)
n.2242G>T
n.2261G>T
c.3204G>T (p.Glu1068Asp)
c.*1G>T (n.*1G>T)
c.2610G>T (p.Glu870Asp)
c.2604G>T (p.Glu868Asp)
c.2259G>T (p.Glu753Asp)
c.1860G>T (p.Glu620Asp)
c.3582G>T (p.Glu1194Asp)
n.2263G>T
9g.133456095C>ACA375414839ADAMTS13c.3427C>A (p.Pro1143Thr)
c.3334C>A (p.Pro1112Thr)
c.-18C>A (n.-18C>A)
c.*896C>A (n.*896C>A)
c.3595C>A (p.Pro1199Thr)
n.2243C>A
n.2262C>A
c.3205C>A (p.Pro1069Thr)
c.*2C>A (n.*2C>A)
c.2611C>A (p.Pro871Thr)
c.2605C>A (p.Pro869Thr)
c.2260C>A (p.Pro754Thr)
c.1861C>A (p.Pro621Thr)
c.3583C>A (p.Pro1195Thr)
n.2264C>A
9g.133456095C=CA1882682436ADAMTS13c.3427C= (p.Pro1143=)
c.3334C= (p.Pro1112=)
c.-18C= (n.-18C=)
c.*896C= (n.*896C=)
c.3595C= (p.Pro1199=)
n.2243C=
n.2262C=
c.3205C= (p.Pro1069=)
c.*2C= (n.*2C=)
c.2611C= (p.Pro871=)
c.2605C= (p.Pro869=)
c.2260C= (p.Pro754=)
c.1861C= (p.Pro621=)
c.3583C= (p.Pro1195=)
n.2264C=
9g.133456095C>GCA375414843ADAMTS13c.3427C>G (p.Pro1143Ala)
c.3334C>G (p.Pro1112Ala)
c.-18C>G (n.-18C>G)
c.*896C>G (n.*896C>G)
c.3595C>G (p.Pro1199Ala)
n.2243C>G
n.2262C>G
c.3205C>G (p.Pro1069Ala)
c.*2C>G (n.*2C>G)
c.2611C>G (p.Pro871Ala)
c.2605C>G (p.Pro869Ala)
c.2260C>G (p.Pro754Ala)
c.1861C>G (p.Pro621Ala)
c.3583C>G (p.Pro1195Ala)
n.2264C>G
 dbSNP gnomAD v4
9g.133456095C>TCA200944719ADAMTS13c.3427C>T (p.Pro1143Ser)
c.3334C>T (p.Pro1112Ser)
c.-18C>T (n.-18C>T)
c.*896C>T (n.*896C>T)
c.3595C>T (p.Pro1199Ser)
n.2243C>T
n.2262C>T
c.3205C>T (p.Pro1069Ser)
c.*2C>T (n.*2C>T)
c.2611C>T (p.Pro871Ser)
c.2605C>T (p.Pro869Ser)
c.2260C>T (p.Pro754Ser)
c.1861C>T (p.Pro621Ser)
c.3583C>T (p.Pro1195Ser)
n.2264C>T
 dbSNP gnomAD v4
9g.133456096C>ACA375414844ADAMTS13c.3428C>A (p.Pro1143Gln)
c.3335C>A (p.Pro1112Gln)
c.-17C>A (n.-17C>A)
c.*897C>A (n.*897C>A)
c.3596C>A (p.Pro1199Gln)
n.2244C>A
n.2263C>A
c.3206C>A (p.Pro1069Gln)
c.*3C>A (n.*3C>A)
c.2612C>A (p.Pro871Gln)
c.2606C>A (p.Pro869Gln)
c.2261C>A (p.Pro754Gln)
c.1862C>A (p.Pro621Gln)
c.3584C>A (p.Pro1195Gln)
n.2265C>A
9g.133456096C=CA1882682437ADAMTS13c.3428C= (p.Pro1143=)
c.3335C= (p.Pro1112=)
c.-17C= (n.-17C=)
c.*897C= (n.*897C=)
c.3596C= (p.Pro1199=)
n.2244C=
n.2263C=
c.3206C= (p.Pro1069=)
c.*3C= (n.*3C=)
c.2612C= (p.Pro871=)
c.2606C= (p.Pro869=)
c.2261C= (p.Pro754=)
c.1862C= (p.Pro621=)
c.3584C= (p.Pro1195=)
n.2265C=
9g.133456096C>GCA375414845ADAMTS13c.3428C>G (p.Pro1143Arg)
c.3335C>G (p.Pro1112Arg)
c.-17C>G (n.-17C>G)
c.*897C>G (n.*897C>G)
c.3596C>G (p.Pro1199Arg)
n.2244C>G
n.2263C>G
c.3206C>G (p.Pro1069Arg)
c.*3C>G (n.*3C>G)
c.2612C>G (p.Pro871Arg)
c.2606C>G (p.Pro869Arg)
c.2261C>G (p.Pro754Arg)
c.1862C>G (p.Pro621Arg)
c.3584C>G (p.Pro1195Arg)
n.2265C>G
9g.133456096C>TCA375414847ADAMTS13c.3428C>T (p.Pro1143Leu)
c.3335C>T (p.Pro1112Leu)
c.-17C>T (n.-17C>T)
c.*897C>T (n.*897C>T)
c.3596C>T (p.Pro1199Leu)
n.2244C>T
n.2263C>T
c.3206C>T (p.Pro1069Leu)
c.*3C>T (n.*3C>T)
c.2612C>T (p.Pro871Leu)
c.2606C>T (p.Pro869Leu)
c.2261C>T (p.Pro754Leu)
c.1862C>T (p.Pro621Leu)
c.3584C>T (p.Pro1195Leu)
n.2265C>T
 dbSNP gnomAD v4
9g.133456098A>CCA375414851ADAMTS13c.3430A>C (p.Thr1144Pro)
c.3337A>C (p.Thr1113Pro)
c.-15A>C (n.-15A>C)
c.*899A>C (n.*899A>C)
c.3598A>C (p.Thr1200Pro)
n.2246A>C
n.2265A>C
c.3208A>C (p.Thr1070Pro)
c.*5A>C (n.*5A>C)
c.2614A>C (p.Thr872Pro)
c.2608A>C (p.Thr870Pro)
c.2263A>C (p.Thr755Pro)
c.1864A>C (p.Thr622Pro)
c.3586A>C (p.Thr1196Pro)
n.2267A>C
9g.133456098A>GCA375414852ADAMTS13c.3430A>G (p.Thr1144Ala)
c.3337A>G (p.Thr1113Ala)
c.-15A>G (n.-15A>G)
c.*899A>G (n.*899A>G)
c.3598A>G (p.Thr1200Ala)
n.2246A>G
n.2265A>G
c.3208A>G (p.Thr1070Ala)
c.*5A>G (n.*5A>G)
c.2614A>G (p.Thr872Ala)
c.2608A>G (p.Thr870Ala)
c.2263A>G (p.Thr755Ala)
c.1864A>G (p.Thr622Ala)
c.3586A>G (p.Thr1196Ala)
n.2267A>G
9g.133456098A>TCA375414858ADAMTS13c.3430A>T (p.Thr1144Ser)
c.3337A>T (p.Thr1113Ser)
c.-15A>T (n.-15A>T)
c.*899A>T (n.*899A>T)
c.3598A>T (p.Thr1200Ser)
n.2246A>T
n.2265A>T
c.3208A>T (p.Thr1070Ser)
c.*5A>T (n.*5A>T)
c.2614A>T (p.Thr872Ser)
c.2608A>T (p.Thr870Ser)
c.2263A>T (p.Thr755Ser)
c.1864A>T (p.Thr622Ser)
c.3586A>T (p.Thr1196Ser)
n.2267A>T
9g.133456099C>ACA200944721ADAMTS13c.3431C>A (p.Thr1144Lys)
c.3338C>A (p.Thr1113Lys)
c.-14C>A (n.-14C>A)
c.*900C>A (n.*900C>A)
c.3599C>A (p.Thr1200Lys)
n.2247C>A
n.2266C>A
c.3209C>A (p.Thr1070Lys)
c.*6C>A (n.*6C>A)
c.2615C>A (p.Thr872Lys)
c.2609C>A (p.Thr870Lys)
c.2264C>A (p.Thr755Lys)
c.1865C>A (p.Thr622Lys)
c.3587C>A (p.Thr1196Lys)
n.2268C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456099C=CA1882682438ADAMTS13c.3431C= (p.Thr1144=)
c.3338C= (p.Thr1113=)
c.-14C= (n.-14C=)
c.*900C= (n.*900C=)
c.3599C= (p.Thr1200=)
n.2247C=
n.2266C=
c.3209C= (p.Thr1070=)
c.*6C= (n.*6C=)
c.2615C= (p.Thr872=)
c.2609C= (p.Thr870=)
c.2264C= (p.Thr755=)
c.1865C= (p.Thr622=)
c.3587C= (p.Thr1196=)
n.2268C=
9g.133456099C>GCA375414861ADAMTS13c.3431C>G (p.Thr1144Arg)
c.3338C>G (p.Thr1113Arg)
c.-14C>G (n.-14C>G)
c.*900C>G (n.*900C>G)
c.3599C>G (p.Thr1200Arg)
n.2247C>G
n.2266C>G
c.3209C>G (p.Thr1070Arg)
c.*6C>G (n.*6C>G)
c.2615C>G (p.Thr872Arg)
c.2609C>G (p.Thr870Arg)
c.2264C>G (p.Thr755Arg)
c.1865C>G (p.Thr622Arg)
c.3587C>G (p.Thr1196Arg)
n.2268C>G
9g.133456099C>TCA375414864ADAMTS13c.3431C>T (p.Thr1144Ile)
c.3338C>T (p.Thr1113Ile)
c.-14C>T (n.-14C>T)
c.*900C>T (n.*900C>T)
c.3599C>T (p.Thr1200Ile)
n.2247C>T
n.2266C>T
c.3209C>T (p.Thr1070Ile)
c.*6C>T (n.*6C>T)
c.2615C>T (p.Thr872Ile)
c.2609C>T (p.Thr870Ile)
c.2264C>T (p.Thr755Ile)
c.1865C>T (p.Thr622Ile)
c.3587C>T (p.Thr1196Ile)
n.2268C>T
 gnomAD v4
9g.133456101G>ACA375414888ADAMTS13c.3433G>A (p.Gly1145Arg)
c.3340G>A (p.Gly1114Arg)
c.-12G>A (n.-12G>A)
c.*902G>A (n.*902G>A)
c.3601G>A (p.Gly1201Arg)
n.2249G>A
n.2268G>A
c.3211G>A (p.Gly1071Arg)
c.*8G>A (n.*8G>A)
c.2617G>A (p.Gly873Arg)
c.2611G>A (p.Gly871Arg)
c.2266G>A (p.Gly756Arg)
c.1867G>A (p.Gly623Arg)
c.3589G>A (p.Gly1197Arg)
n.2270G>A
9g.133456101G>CCA375414889ADAMTS13c.3433G>C (p.Gly1145Arg)
c.3340G>C (p.Gly1114Arg)
c.-12G>C (n.-12G>C)
c.*902G>C (n.*902G>C)
c.3601G>C (p.Gly1201Arg)
n.2249G>C
n.2268G>C
c.3211G>C (p.Gly1071Arg)
c.*8G>C (n.*8G>C)
c.2617G>C (p.Gly873Arg)
c.2611G>C (p.Gly871Arg)
c.2266G>C (p.Gly756Arg)
c.1867G>C (p.Gly623Arg)
c.3589G>C (p.Gly1197Arg)
n.2270G>C
9g.133456101G>TCA375414891ADAMTS13c.3433G>T (p.Gly1145Ter)
c.3340G>T (p.Gly1114Ter)
c.-12G>T (n.-12G>T)
c.*902G>T (n.*902G>T)
c.3601G>T (p.Gly1201Ter)
n.2249G>T
n.2268G>T
c.3211G>T (p.Gly1071Ter)
c.*8G>T (n.*8G>T)
c.2617G>T (p.Gly873Ter)
c.2611G>T (p.Gly871Ter)
c.2266G>T (p.Gly756Ter)
c.1867G>T (p.Gly623Ter)
c.3589G>T (p.Gly1197Ter)
n.2270G>T
9g.133456102G>ACA375414894ADAMTS13c.3434G>A (p.Gly1145Glu)
c.3341G>A (p.Gly1114Glu)
c.-11G>A (n.-11G>A)
c.*903G>A (n.*903G>A)
c.3602G>A (p.Gly1201Glu)
n.2250G>A
n.2269G>A
c.3212G>A (p.Gly1071Glu)
c.*9G>A (n.*9G>A)
c.2618G>A (p.Gly873Glu)
c.2612G>A (p.Gly871Glu)
c.2267G>A (p.Gly756Glu)
c.1868G>A (p.Gly623Glu)
c.3590G>A (p.Gly1197Glu)
n.2271G>A
 dbSNP gnomAD v4
9g.133456102G>CCA375414895ADAMTS13c.3434G>C (p.Gly1145Ala)
c.3341G>C (p.Gly1114Ala)
c.-11G>C (n.-11G>C)
c.*903G>C (n.*903G>C)
c.3602G>C (p.Gly1201Ala)
n.2250G>C
n.2269G>C
c.3212G>C (p.Gly1071Ala)
c.*9G>C (n.*9G>C)
c.2618G>C (p.Gly873Ala)
c.2612G>C (p.Gly871Ala)
c.2267G>C (p.Gly756Ala)
c.1868G>C (p.Gly623Ala)
c.3590G>C (p.Gly1197Ala)
n.2271G>C
9g.133456102G=CA1882682439ADAMTS13c.3434G= (p.Gly1145=)
c.3341G= (p.Gly1114=)
c.-11G= (n.-11G=)
c.*903G= (n.*903G=)
c.3602G= (p.Gly1201=)
n.2250G=
n.2269G=
c.3212G= (p.Gly1071=)
c.*9G= (n.*9G=)
c.2618G= (p.Gly873=)
c.2612G= (p.Gly871=)
c.2267G= (p.Gly756=)
c.1868G= (p.Gly623=)
c.3590G= (p.Gly1197=)
n.2271G=
9g.133456102G>TCA375414899ADAMTS13c.3434G>T (p.Gly1145Val)
c.3341G>T (p.Gly1114Val)
c.-11G>T (n.-11G>T)
c.*903G>T (n.*903G>T)
c.3602G>T (p.Gly1201Val)
n.2250G>T
n.2269G>T
c.3212G>T (p.Gly1071Val)
c.*9G>T (n.*9G>T)
c.2618G>T (p.Gly873Val)
c.2612G>T (p.Gly871Val)
c.2267G>T (p.Gly756Val)
c.1868G>T (p.Gly623Val)
c.3590G>T (p.Gly1197Val)
n.2271G>T
9g.133456104A>CCA375414903ADAMTS13c.3436A>C (p.Thr1146Pro)
c.3343A>C (p.Thr1115Pro)
c.-9A>C (n.-9A>C)
c.*905A>C (n.*905A>C)
c.3604A>C (p.Thr1202Pro)
n.2252A>C
n.2271A>C
c.3214A>C (p.Thr1072Pro)
c.*11A>C (n.*11A>C)
c.2620A>C (p.Thr874Pro)
c.2614A>C (p.Thr872Pro)
c.2269A>C (p.Thr757Pro)
c.1870A>C (p.Thr624Pro)
c.3592A>C (p.Thr1198Pro)
n.2273A>C
9g.133456104A>GCA375414904ADAMTS13c.3436A>G (p.Thr1146Ala)
c.3343A>G (p.Thr1115Ala)
c.-9A>G (n.-9A>G)
c.*905A>G (n.*905A>G)
c.3604A>G (p.Thr1202Ala)
n.2252A>G
n.2271A>G
c.3214A>G (p.Thr1072Ala)
c.*11A>G (n.*11A>G)
c.2620A>G (p.Thr874Ala)
c.2614A>G (p.Thr872Ala)
c.2269A>G (p.Thr757Ala)
c.1870A>G (p.Thr624Ala)
c.3592A>G (p.Thr1198Ala)
n.2273A>G
 gnomAD v4
9g.133456104A>TCA375414905ADAMTS13c.3436A>T (p.Thr1146Ser)
c.3343A>T (p.Thr1115Ser)
c.-9A>T (n.-9A>T)
c.*905A>T (n.*905A>T)
c.3604A>T (p.Thr1202Ser)
n.2252A>T
n.2271A>T
c.3214A>T (p.Thr1072Ser)
c.*11A>T (n.*11A>T)
c.2620A>T (p.Thr874Ser)
c.2614A>T (p.Thr872Ser)
c.2269A>T (p.Thr757Ser)
c.1870A>T (p.Thr624Ser)
c.3592A>T (p.Thr1198Ser)
n.2273A>T
9g.133456105C>ACA200944726ADAMTS13c.3437C>A (p.Thr1146Asn)
c.3344C>A (p.Thr1115Asn)
c.-8C>A (n.-8C>A)
c.*906C>A (n.*906C>A)
c.3605C>A (p.Thr1202Asn)
n.2253C>A
n.2272C>A
c.3215C>A (p.Thr1072Asn)
c.*12C>A (n.*12C>A)
c.2621C>A (p.Thr874Asn)
c.2615C>A (p.Thr872Asn)
c.2270C>A (p.Thr757Asn)
c.1871C>A (p.Thr624Asn)
c.3593C>A (p.Thr1198Asn)
n.2274C>A
 dbSNP gnomAD v4
9g.133456105C=CA1882682440ADAMTS13c.3437C= (p.Thr1146=)
c.3344C= (p.Thr1115=)
c.-8C= (n.-8C=)
c.*906C= (n.*906C=)
c.3605C= (p.Thr1202=)
n.2253C=
n.2272C=
c.3215C= (p.Thr1072=)
c.*12C= (n.*12C=)
c.2621C= (p.Thr874=)
c.2615C= (p.Thr872=)
c.2270C= (p.Thr757=)
c.1871C= (p.Thr624=)
c.3593C= (p.Thr1198=)
n.2274C=
9g.133456105C>GCA375414909ADAMTS13c.3437C>G (p.Thr1146Ser)
c.3344C>G (p.Thr1115Ser)
c.-8C>G (n.-8C>G)
c.*906C>G (n.*906C>G)
c.3605C>G (p.Thr1202Ser)
n.2253C>G
n.2272C>G
c.3215C>G (p.Thr1072Ser)
c.*12C>G (n.*12C>G)
c.2621C>G (p.Thr874Ser)
c.2615C>G (p.Thr872Ser)
c.2270C>G (p.Thr757Ser)
c.1871C>G (p.Thr624Ser)
c.3593C>G (p.Thr1198Ser)
n.2274C>G
 gnomAD v4
9g.133456105C>TCA200944722ADAMTS13c.3437C>T (p.Thr1146Ile)
c.3344C>T (p.Thr1115Ile)
c.-8C>T (n.-8C>T)
c.*906C>T (n.*906C>T)
c.3605C>T (p.Thr1202Ile)
n.2253C>T
n.2272C>T
c.3215C>T (p.Thr1072Ile)
c.*12C>T (n.*12C>T)
c.2621C>T (p.Thr874Ile)
c.2615C>T (p.Thr872Ile)
c.2270C>T (p.Thr757Ile)
c.1871C>T (p.Thr624Ile)
c.3593C>T (p.Thr1198Ile)
n.2274C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.133456106dupCA2838398224ADAMTS13c.3438dup (p.Ile1147HisfsTer2)
c.3345dup (p.Ile1116HisfsTer2)
c.-7dup (n.-7dup)
c.*907dup (n.*907dup)
c.3606dup (p.Ile1203HisfsTer2)
n.2254dup
n.2273dup
c.3216dup (p.Ile1073HisfsTer2)
c.*13dup (n.*13dup)
c.2622dup (p.Ile875HisfsTer2)
c.2616dup (p.Ile873HisfsTer2)
c.2271dup (p.Ile758HisfsTer2)
c.1872dup (p.Ile625HisfsTer2)
c.3594dup (p.Ile1199HisfsTer2)
n.2275dup
9g.133456106C>ACA2692365872ADAMTS13c.3438C>A (p.Thr1146=)
c.3345C>A (p.Thr1115=)
c.-7C>A (n.-7C>A)
c.*907C>A (n.*907C>A)
c.3606C>A (p.Thr1202=)
n.2254C>A
n.2273C>A
c.3216C>A (p.Thr1072=)
c.*13C>A (n.*13C>A)
c.2622C>A (p.Thr874=)
c.2616C>A (p.Thr872=)
c.2271C>A (p.Thr757=)
c.1872C>A (p.Thr624=)
c.3594C>A (p.Thr1198=)
n.2275C>A
 gnomAD v4
9g.133456106C>TCA2692365873ADAMTS13c.3438C>T (p.Thr1146=)
c.3345C>T (p.Thr1115=)
c.-7C>T (n.-7C>T)
c.*907C>T (n.*907C>T)
c.3606C>T (p.Thr1202=)
n.2254C>T
n.2273C>T
c.3216C>T (p.Thr1072=)
c.*13C>T (n.*13C>T)
c.2622C>T (p.Thr874=)
c.2616C>T (p.Thr872=)
c.2271C>T (p.Thr757=)
c.1872C>T (p.Thr624=)
c.3594C>T (p.Thr1198=)
n.2275C>T
 gnomAD v4
9g.133456107A>CCA375414919ADAMTS13c.3439A>C (p.Ile1147Leu)
c.3346A>C (p.Ile1116Leu)
c.-6A>C (n.-6A>C)
c.*908A>C (n.*908A>C)
c.3607A>C (p.Ile1203Leu)
n.2255A>C
n.2274A>C
c.3217A>C (p.Ile1073Leu)
c.*14A>C (n.*14A>C)
c.2623A>C (p.Ile875Leu)
c.2617A>C (p.Ile873Leu)
c.2272A>C (p.Ile758Leu)
c.1873A>C (p.Ile625Leu)
c.3595A>C (p.Ile1199Leu)
n.2276A>C
9g.133456107A>GCA375414918ADAMTS13c.3439A>G (p.Ile1147Val)
c.3346A>G (p.Ile1116Val)
c.-6A>G (n.-6A>G)
c.*908A>G (n.*908A>G)
c.3607A>G (p.Ile1203Val)
n.2255A>G
n.2274A>G
c.3217A>G (p.Ile1073Val)
c.*14A>G (n.*14A>G)
c.2623A>G (p.Ile875Val)
c.2617A>G (p.Ile873Val)
c.2272A>G (p.Ile758Val)
c.1873A>G (p.Ile625Val)
c.3595A>G (p.Ile1199Val)
n.2276A>G
9g.133456107A>TCA375414915ADAMTS13c.3439A>T (p.Ile1147Phe)
c.3346A>T (p.Ile1116Phe)
c.-6A>T (n.-6A>T)
c.*908A>T (n.*908A>T)
c.3607A>T (p.Ile1203Phe)
n.2255A>T
n.2274A>T
c.3217A>T (p.Ile1073Phe)
c.*14A>T (n.*14A>T)
c.2623A>T (p.Ile875Phe)
c.2617A>T (p.Ile873Phe)
c.2272A>T (p.Ile758Phe)
c.1873A>T (p.Ile625Phe)
c.3595A>T (p.Ile1199Phe)
n.2276A>T
9g.133456108T>ACA375414921ADAMTS13c.3440T>A (p.Ile1147Asn)
c.3347T>A (p.Ile1116Asn)
c.-5T>A (n.-5T>A)
c.*909T>A (n.*909T>A)
c.3608T>A (p.Ile1203Asn)
n.2256T>A
n.2275T>A
c.3218T>A (p.Ile1073Asn)
c.*15T>A (n.*15T>A)
c.2624T>A (p.Ile875Asn)
c.2618T>A (p.Ile873Asn)
c.2273T>A (p.Ile758Asn)
c.1874T>A (p.Ile625Asn)
c.3596T>A (p.Ile1199Asn)
n.2277T>A
9g.133456108T>CCA200944734ADAMTS13c.3440T>C (p.Ile1147Thr)
c.3347T>C (p.Ile1116Thr)
c.-5T>C (n.-5T>C)
c.*909T>C (n.*909T>C)
c.3608T>C (p.Ile1203Thr)
n.2256T>C
n.2275T>C
c.3218T>C (p.Ile1073Thr)
c.*15T>C (n.*15T>C)
c.2624T>C (p.Ile875Thr)
c.2618T>C (p.Ile873Thr)
c.2273T>C (p.Ile758Thr)
c.1874T>C (p.Ile625Thr)
c.3596T>C (p.Ile1199Thr)
n.2277T>C
 dbSNP gnomAD v4
9g.133456108T>GCA375414929ADAMTS13c.3440T>G (p.Ile1147Ser)
c.3347T>G (p.Ile1116Ser)
c.-5T>G (n.-5T>G)
c.*909T>G (n.*909T>G)
c.3608T>G (p.Ile1203Ser)
n.2256T>G
n.2275T>G
c.3218T>G (p.Ile1073Ser)
c.*15T>G (n.*15T>G)
c.2624T>G (p.Ile875Ser)
c.2618T>G (p.Ile873Ser)
c.2273T>G (p.Ile758Ser)
c.1874T>G (p.Ile625Ser)
c.3596T>G (p.Ile1199Ser)
n.2277T>G
9g.133456108T=CA1882682441ADAMTS13c.3440T= (p.Ile1147=)
c.3347T= (p.Ile1116=)
c.-5T= (n.-5T=)
c.*909T= (n.*909T=)
c.3608T= (p.Ile1203=)
n.2256T=
n.2275T=
c.3218T= (p.Ile1073=)
c.*15T= (n.*15T=)
c.2624T= (p.Ile875=)
c.2618T= (p.Ile873=)
c.2273T= (p.Ile758=)
c.1874T= (p.Ile625=)
c.3596T= (p.Ile1199=)
n.2277T=
9g.133456109T>CCA2692365895ADAMTS13c.3441T>C (p.Ile1147=)
c.3348T>C (p.Ile1116=)
c.-4T>C (n.-4T>C)
c.*910T>C (n.*910T>C)
c.3609T>C (p.Ile1203=)
n.2257T>C
n.2276T>C
c.3219T>C (p.Ile1073=)
c.*16T>C (n.*16T>C)
c.2625T>C (p.Ile875=)
c.2619T>C (p.Ile873=)
c.2274T>C (p.Ile758=)
c.1875T>C (p.Ile625=)
c.3597T>C (p.Ile1199=)
n.2278T>C
 gnomAD v4
9g.133456109T>GCA375414934ADAMTS13c.3441T>G (p.Ile1147Met)
c.3348T>G (p.Ile1116Met)
c.-4T>G (n.-4T>G)
c.*910T>G (n.*910T>G)
c.3609T>G (p.Ile1203Met)
n.2257T>G
n.2276T>G
c.3219T>G (p.Ile1073Met)
c.*16T>G (n.*16T>G)
c.2625T>G (p.Ile875Met)
c.2619T>G (p.Ile873Met)
c.2274T>G (p.Ile758Met)
c.1875T>G (p.Ile625Met)
c.3597T>G (p.Ile1199Met)
n.2278T>G
9g.133456110G>ACA375414938ADAMTS13c.3442G>A (p.Asp1148Asn)
c.3349G>A (p.Asp1117Asn)
c.-3G>A (n.-3G>A)
c.*911G>A (n.*911G>A)
c.3610G>A (p.Asp1204Asn)
n.2258G>A
n.2277G>A
c.3220G>A (p.Asp1074Asn)
c.*17G>A (n.*17G>A)
c.2626G>A (p.Asp876Asn)
c.2620G>A (p.Asp874Asn)
c.2275G>A (p.Asp759Asn)
c.1876G>A (p.Asp626Asn)
c.3598G>A (p.Asp1200Asn)
n.2279G>A
9g.133456110G>CCA375414942ADAMTS13c.3442G>C (p.Asp1148His)
c.3349G>C (p.Asp1117His)
c.-3G>C (n.-3G>C)
c.*911G>C (n.*911G>C)
c.3610G>C (p.Asp1204His)
n.2258G>C
n.2277G>C
c.3220G>C (p.Asp1074His)
c.*17G>C (n.*17G>C)
c.2626G>C (p.Asp876His)
c.2620G>C (p.Asp874His)
c.2275G>C (p.Asp759His)
c.1876G>C (p.Asp626His)
c.3598G>C (p.Asp1200His)
n.2279G>C
9g.133456110G>TCA375414946ADAMTS13c.3442G>T (p.Asp1148Tyr)
c.3349G>T (p.Asp1117Tyr)
c.-3G>T (n.-3G>T)
c.*911G>T (n.*911G>T)
c.3610G>T (p.Asp1204Tyr)
n.2258G>T
n.2277G>T
c.3220G>T (p.Asp1074Tyr)
c.*17G>T (n.*17G>T)
c.2626G>T (p.Asp876Tyr)
c.2620G>T (p.Asp874Tyr)
c.2275G>T (p.Asp759Tyr)
c.1876G>T (p.Asp626Tyr)
c.3598G>T (p.Asp1200Tyr)
n.2279G>T
9g.133456111A>CCA375414954ADAMTS13c.3443A>C (p.Asp1148Ala)
c.3350A>C (p.Asp1117Ala)
c.-2A>C (n.-2A>C)
c.*912A>C (n.*912A>C)
c.3611A>C (p.Asp1204Ala)
n.2259A>C
n.2278A>C
c.3221A>C (p.Asp1074Ala)
c.*18A>C (n.*18A>C)
c.2627A>C (p.Asp876Ala)
c.2621A>C (p.Asp874Ala)
c.2276A>C (p.Asp759Ala)
c.1877A>C (p.Asp626Ala)
c.3599A>C (p.Asp1200Ala)
n.2280A>C
9g.133456111A>GCA375414949ADAMTS13c.3443A>G (p.Asp1148Gly)
c.3350A>G (p.Asp1117Gly)
c.-2A>G (n.-2A>G)
c.*912A>G (n.*912A>G)
c.3611A>G (p.Asp1204Gly)
n.2259A>G
n.2278A>G
c.3221A>G (p.Asp1074Gly)
c.*18A>G (n.*18A>G)
c.2627A>G (p.Asp876Gly)
c.2621A>G (p.Asp874Gly)
c.2276A>G (p.Asp759Gly)
c.1877A>G (p.Asp626Gly)
c.3599A>G (p.Asp1200Gly)
n.2280A>G
9g.133456111A>TCA375414952ADAMTS13c.3443A>T (p.Asp1148Val)
c.3350A>T (p.Asp1117Val)
c.-2A>T (n.-2A>T)
c.*912A>T (n.*912A>T)
c.3611A>T (p.Asp1204Val)
n.2259A>T
n.2278A>T
c.3221A>T (p.Asp1074Val)
c.*18A>T (n.*18A>T)
c.2627A>T (p.Asp876Val)
c.2621A>T (p.Asp874Val)
c.2276A>T (p.Asp759Val)
c.1877A>T (p.Asp626Val)
c.3599A>T (p.Asp1200Val)
n.2280A>T
9g.133456112C>ACA375414958ADAMTS13c.3444C>A (p.Asp1148Glu)
c.3351C>A (p.Asp1117Glu)
c.-1C>A (n.-1C>A)
c.*913C>A (n.*913C>A)
c.3612C>A (p.Asp1204Glu)
n.2260C>A
n.2279C>A
c.3222C>A (p.Asp1074Glu)
c.*19C>A (n.*19C>A)
c.2628C>A (p.Asp876Glu)
c.2622C>A (p.Asp874Glu)
c.2277C>A (p.Asp759Glu)
c.1878C>A (p.Asp626Glu)
c.3600C>A (p.Asp1200Glu)
n.2281C>A
9g.133456112C>GCA375414961ADAMTS13c.3444C>G (p.Asp1148Glu)
c.3351C>G (p.Asp1117Glu)
c.-1C>G (n.-1C>G)
c.*913C>G (n.*913C>G)
c.3612C>G (p.Asp1204Glu)
n.2260C>G
n.2279C>G
c.3222C>G (p.Asp1074Glu)
c.*19C>G (n.*19C>G)
c.2628C>G (p.Asp876Glu)
c.2622C>G (p.Asp874Glu)
c.2277C>G (p.Asp759Glu)
c.1878C>G (p.Asp626Glu)
c.3600C>G (p.Asp1200Glu)
n.2281C>G
9g.133456112C>TCA2692365896ADAMTS13c.3444C>T (p.Asp1148=)
c.3351C>T (p.Asp1117=)
c.-1C>T (n.-1C>T)
c.*913C>T (n.*913C>T)
c.3612C>T (p.Asp1204=)
n.2260C>T
n.2279C>T
c.3222C>T (p.Asp1074=)
c.*19C>T (n.*19C>T)
c.2628C>T (p.Asp876=)
c.2622C>T (p.Asp874=)
c.2277C>T (p.Asp759=)
c.1878C>T (p.Asp626=)
c.3600C>T (p.Asp1200=)
n.2281C>T
 gnomAD v4
9g.133456113A>CCA375414965ADAMTS13c.3445A>C (p.Met1149Leu)
c.3352A>C (p.Met1118Leu)
c.1A>C (p.Met1Leu)
c.*914A>C (n.*914A>C)
c.3613A>C (p.Met1205Leu)
n.2261A>C
n.2280A>C
c.3223A>C (p.Met1075Leu)
c.*20A>C (n.*20A>C)
c.2629A>C (p.Met877Leu)
c.2623A>C (p.Met875Leu)
c.2278A>C (p.Met760Leu)
c.1879A>C (p.Met627Leu)
c.3601A>C (p.Met1201Leu)
n.2282A>C
9g.133456113A>GCA375414969ADAMTS13c.3445A>G (p.Met1149Val)
c.3352A>G (p.Met1118Val)
c.1A>G (p.Met1Val)
c.*914A>G (n.*914A>G)
c.3613A>G (p.Met1205Val)
n.2261A>G
n.2280A>G
c.3223A>G (p.Met1075Val)
c.*20A>G (n.*20A>G)
c.2629A>G (p.Met877Val)
c.2623A>G (p.Met875Val)
c.2278A>G (p.Met760Val)
c.1879A>G (p.Met627Val)
c.3601A>G (p.Met1201Val)
n.2282A>G
9g.133456113A>TCA375414973ADAMTS13c.3445A>T (p.Met1149Leu)
c.3352A>T (p.Met1118Leu)
c.1A>T (p.Met1Leu)
c.*914A>T (n.*914A>T)
c.3613A>T (p.Met1205Leu)
n.2261A>T
n.2280A>T
c.3223A>T (p.Met1075Leu)
c.*20A>T (n.*20A>T)
c.2629A>T (p.Met877Leu)
c.2623A>T (p.Met875Leu)
c.2278A>T (p.Met760Leu)
c.1879A>T (p.Met627Leu)
c.3601A>T (p.Met1201Leu)
n.2282A>T
9g.133456114T>ACA375414974ADAMTS13c.3446T>A (p.Met1149Lys)
c.3353T>A (p.Met1118Lys)
c.2T>A (p.Met1Lys)
c.*915T>A (n.*915T>A)
c.3614T>A (p.Met1205Lys)
n.2262T>A
n.2281T>A
c.3224T>A (p.Met1075Lys)
c.*21T>A (n.*21T>A)
c.2630T>A (p.Met877Lys)
c.2624T>A (p.Met875Lys)
c.2279T>A (p.Met760Lys)
c.1880T>A (p.Met627Lys)
c.3602T>A (p.Met1201Lys)
n.2283T>A
9g.133456114T>CCA375414978ADAMTS13c.3446T>C (p.Met1149Thr)
c.3353T>C (p.Met1118Thr)
c.2T>C (p.Met1Thr)
c.*915T>C (n.*915T>C)
c.3614T>C (p.Met1205Thr)
n.2262T>C
n.2281T>C
c.3224T>C (p.Met1075Thr)
c.*21T>C (n.*21T>C)
c.2630T>C (p.Met877Thr)
c.2624T>C (p.Met875Thr)
c.2279T>C (p.Met760Thr)
c.1880T>C (p.Met627Thr)
c.3602T>C (p.Met1201Thr)
n.2283T>C
 gnomAD v4 COSMIC
9g.133456114T>GCA375414976ADAMTS13c.3446T>G (p.Met1149Arg)
c.3353T>G (p.Met1118Arg)
c.2T>G (p.Met1Arg)
c.*915T>G (n.*915T>G)
c.3614T>G (p.Met1205Arg)
n.2262T>G
n.2281T>G
c.3224T>G (p.Met1075Arg)
c.*21T>G (n.*21T>G)
c.2630T>G (p.Met877Arg)
c.2624T>G (p.Met875Arg)
c.2279T>G (p.Met760Arg)
c.1880T>G (p.Met627Arg)
c.3602T>G (p.Met1201Arg)
n.2283T>G
9g.133456115G>ACA375414982ADAMTS13c.3447G>A (p.Met1149Ile)
c.3354G>A (p.Met1118Ile)
c.3G>A (p.Met1Ile)
c.*916G>A (n.*916G>A)
c.3615G>A (p.Met1205Ile)
n.2263G>A
n.2282G>A
c.3225G>A (p.Met1075Ile)
c.*22G>A (n.*22G>A)
c.2631G>A (p.Met877Ile)
c.2625G>A (p.Met875Ile)
c.2280G>A (p.Met760Ile)
c.1881G>A (p.Met627Ile)
c.3603G>A (p.Met1201Ile)
n.2284G>A
 dbSNP gnomAD v4 COSMIC
9g.133456115G>CCA375414983ADAMTS13c.3447G>C (p.Met1149Ile)
c.3354G>C (p.Met1118Ile)
c.3G>C (p.Met1Ile)
c.*916G>C (n.*916G>C)
c.3615G>C (p.Met1205Ile)
n.2263G>C
n.2282G>C
c.3225G>C (p.Met1075Ile)
c.*22G>C (n.*22G>C)
c.2631G>C (p.Met877Ile)
c.2625G>C (p.Met875Ile)
c.2280G>C (p.Met760Ile)
c.1881G>C (p.Met627Ile)
c.3603G>C (p.Met1201Ile)
n.2284G>C
 dbSNP gnomAD v3 gnomAD v4
9g.133456115G=CA1882682442ADAMTS13c.3447G= (p.Met1149=)
c.3354G= (p.Met1118=)
c.3G= (p.Met1=)
c.*916G= (n.*916G=)
c.3615G= (p.Met1205=)
n.2263G=
n.2282G=
c.3225G= (p.Met1075=)
c.*22G= (n.*22G=)
c.2631G= (p.Met877=)
c.2625G= (p.Met875=)
c.2280G= (p.Met760=)
c.1881G= (p.Met627=)
c.3603G= (p.Met1201=)
n.2284G=
9g.133456115G>TCA375414987ADAMTS13c.3447G>T (p.Met1149Ile)
c.3354G>T (p.Met1118Ile)
c.3G>T (p.Met1Ile)
c.*916G>T (n.*916G>T)
c.3615G>T (p.Met1205Ile)
n.2263G>T
n.2282G>T
c.3225G>T (p.Met1075Ile)
c.*22G>T (n.*22G>T)
c.2631G>T (p.Met877Ile)
c.2625G>T (p.Met875Ile)
c.2280G>T (p.Met760Ile)
c.1881G>T (p.Met627Ile)
c.3603G>T (p.Met1201Ile)
n.2284G>T
9g.133456116C>ACA2692365909ADAMTS13c.3448C>A (p.Arg1150=)
c.3355C>A (p.Arg1119=)
c.4C>A (p.Arg2=)
c.*917C>A (n.*917C>A)
c.3616C>A (p.Arg1206=)
n.2264C>A
n.2283C>A
c.3226C>A (p.Arg1076=)
c.*23C>A (n.*23C>A)
c.2632C>A (p.Arg878=)
c.2626C>A (p.Arg876=)
c.2281C>A (p.Arg761=)
c.1882C>A (p.Arg628=)
c.3604C>A (p.Arg1202=)
n.2285C>A
 gnomAD v4
9g.133456116C=CA1882682443ADAMTS13c.3448C= (p.Arg1150=)
c.3355C= (p.Arg1119=)
c.4C= (p.Arg2=)
c.*917C= (n.*917C=)
c.3616C= (p.Arg1206=)
n.2264C=
n.2283C=
c.3226C= (p.Arg1076=)
c.*23C= (n.*23C=)
c.2632C= (p.Arg878=)
c.2626C= (p.Arg876=)
c.2281C= (p.Arg761=)
c.1882C= (p.Arg628=)
c.3604C= (p.Arg1202=)
n.2285C=
9g.133456116C>GCA375414990ADAMTS13c.3448C>G (p.Arg1150Gly)
c.3355C>G (p.Arg1119Gly)
c.4C>G (p.Arg2Gly)
c.*917C>G (n.*917C>G)
c.3616C>G (p.Arg1206Gly)
n.2264C>G
n.2283C>G
c.3226C>G (p.Arg1076Gly)
c.*23C>G (n.*23C>G)
c.2632C>G (p.Arg878Gly)
c.2626C>G (p.Arg876Gly)
c.2281C>G (p.Arg761Gly)
c.1882C>G (p.Arg628Gly)
c.3604C>G (p.Arg1202Gly)
n.2285C>G
9g.133456116C>TCA200944744ADAMTS13c.3448C>T (p.Arg1150Ter)
c.3355C>T (p.Arg1119Ter)
c.4C>T (p.Arg2Ter)
c.*917C>T (n.*917C>T)
c.3616C>T (p.Arg1206Ter)
n.2264C>T
n.2283C>T
c.3226C>T (p.Arg1076Ter)
c.*23C>T (n.*23C>T)
c.2632C>T (p.Arg878Ter)
c.2626C>T (p.Arg876Ter)
c.2281C>T (p.Arg761Ter)
c.1882C>T (p.Arg628Ter)
c.3604C>T (p.Arg1202Ter)
n.2285C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456117G>ACA200944757ADAMTS13c.3449G>A (p.Arg1150Gln)
c.3356G>A (p.Arg1119Gln)
c.5G>A (p.Arg2Gln)
c.*918G>A (n.*918G>A)
c.3617G>A (p.Arg1206Gln)
n.2265G>A
n.2284G>A
c.3227G>A (p.Arg1076Gln)
c.*24G>A (n.*24G>A)
c.2633G>A (p.Arg878Gln)
c.2627G>A (p.Arg876Gln)
c.2282G>A (p.Arg761Gln)
c.1883G>A (p.Arg628Gln)
c.3605G>A (p.Arg1202Gln)
n.2286G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456117G>CCA375415000ADAMTS13c.3449G>C (p.Arg1150Pro)
c.3356G>C (p.Arg1119Pro)
c.5G>C (p.Arg2Pro)
c.*918G>C (n.*918G>C)
c.3617G>C (p.Arg1206Pro)
n.2265G>C
n.2284G>C
c.3227G>C (p.Arg1076Pro)
c.*24G>C (n.*24G>C)
c.2633G>C (p.Arg878Pro)
c.2627G>C (p.Arg876Pro)
c.2282G>C (p.Arg761Pro)
c.1883G>C (p.Arg628Pro)
c.3605G>C (p.Arg1202Pro)
n.2286G>C
9g.133456117G=CA1882682444ADAMTS13c.3449G= (p.Arg1150=)
c.3356G= (p.Arg1119=)
c.5G= (p.Arg2=)
c.*918G= (n.*918G=)
c.3617G= (p.Arg1206=)
n.2265G=
n.2284G=
c.3227G= (p.Arg1076=)
c.*24G= (n.*24G=)
c.2633G= (p.Arg878=)
c.2627G= (p.Arg876=)
c.2282G= (p.Arg761=)
c.1883G= (p.Arg628=)
c.3605G= (p.Arg1202=)
n.2286G=
9g.133456117G>TCA375415015ADAMTS13c.3449G>T (p.Arg1150Leu)
c.3356G>T (p.Arg1119Leu)
c.5G>T (p.Arg2Leu)
c.*918G>T (n.*918G>T)
c.3617G>T (p.Arg1206Leu)
n.2265G>T
n.2284G>T
c.3227G>T (p.Arg1076Leu)
c.*24G>T (n.*24G>T)
c.2633G>T (p.Arg878Leu)
c.2627G>T (p.Arg876Leu)
c.2282G>T (p.Arg761Leu)
c.1883G>T (p.Arg628Leu)
c.3605G>T (p.Arg1202Leu)
n.2286G>T
9g.133456119G>ACA375415020ADAMTS13c.3451G>A (p.Gly1151Ser)
c.3358G>A (p.Gly1120Ser)
c.7G>A (p.Gly3Ser)
c.*920G>A (n.*920G>A)
c.3619G>A (p.Gly1207Ser)
n.2267G>A
n.2286G>A
c.3229G>A (p.Gly1077Ser)
c.*26G>A (n.*26G>A)
c.2635G>A (p.Gly879Ser)
c.2629G>A (p.Gly877Ser)
c.2284G>A (p.Gly762Ser)
c.1885G>A (p.Gly629Ser)
c.3607G>A (p.Gly1203Ser)
n.2288G>A
9g.133456119G>CCA375415023ADAMTS13c.3451G>C (p.Gly1151Arg)
c.3358G>C (p.Gly1120Arg)
c.7G>C (p.Gly3Arg)
c.*920G>C (n.*920G>C)
c.3619G>C (p.Gly1207Arg)
n.2267G>C
n.2286G>C
c.3229G>C (p.Gly1077Arg)
c.*26G>C (n.*26G>C)
c.2635G>C (p.Gly879Arg)
c.2629G>C (p.Gly877Arg)
c.2284G>C (p.Gly762Arg)
c.1885G>C (p.Gly629Arg)
c.3607G>C (p.Gly1203Arg)
n.2288G>C
9g.133456119G>TCA375415025ADAMTS13c.3451G>T (p.Gly1151Cys)
c.3358G>T (p.Gly1120Cys)
c.7G>T (p.Gly3Cys)
c.*920G>T (n.*920G>T)
c.3619G>T (p.Gly1207Cys)
n.2267G>T
n.2286G>T
c.3229G>T (p.Gly1077Cys)
c.*26G>T (n.*26G>T)
c.2635G>T (p.Gly879Cys)
c.2629G>T (p.Gly877Cys)
c.2284G>T (p.Gly762Cys)
c.1885G>T (p.Gly629Cys)
c.3607G>T (p.Gly1203Cys)
n.2288G>T
9g.133456120G>ACA375415032ADAMTS13c.3452G>A (p.Gly1151Asp)
c.3359G>A (p.Gly1120Asp)
c.8G>A (p.Gly3Asp)
c.*921G>A (n.*921G>A)
c.3620G>A (p.Gly1207Asp)
n.2268G>A
n.2287G>A
c.3230G>A (p.Gly1077Asp)
c.*27G>A (n.*27G>A)
c.2636G>A (p.Gly879Asp)
c.2630G>A (p.Gly877Asp)
c.2285G>A (p.Gly762Asp)
c.1886G>A (p.Gly629Asp)
c.3608G>A (p.Gly1203Asp)
n.2289G>A
9g.133456120G>CCA375415029ADAMTS13c.3452G>C (p.Gly1151Ala)
c.3359G>C (p.Gly1120Ala)
c.8G>C (p.Gly3Ala)
c.*921G>C (n.*921G>C)
c.3620G>C (p.Gly1207Ala)
n.2268G>C
n.2287G>C
c.3230G>C (p.Gly1077Ala)
c.*27G>C (n.*27G>C)
c.2636G>C (p.Gly879Ala)
c.2630G>C (p.Gly877Ala)
c.2285G>C (p.Gly762Ala)
c.1886G>C (p.Gly629Ala)
c.3608G>C (p.Gly1203Ala)
n.2289G>C
9g.133456120G>TCA375415030ADAMTS13c.3452G>T (p.Gly1151Val)
c.3359G>T (p.Gly1120Val)
c.8G>T (p.Gly3Val)
c.*921G>T (n.*921G>T)
c.3620G>T (p.Gly1207Val)
n.2268G>T
n.2287G>T
c.3230G>T (p.Gly1077Val)
c.*27G>T (n.*27G>T)
c.2636G>T (p.Gly879Val)
c.2630G>T (p.Gly877Val)
c.2285G>T (p.Gly762Val)
c.1886G>T (p.Gly629Val)
c.3608G>T (p.Gly1203Val)
n.2289G>T
9g.133456121C=CA1882682445ADAMTS13c.3453C= (p.Gly1151=)
c.3360C= (p.Gly1120=)
c.9C= (p.Gly3=)
c.*922C= (n.*922C=)
c.3621C= (p.Gly1207=)
n.2269C=
n.2288C=
c.3231C= (p.Gly1077=)
c.*28C= (n.*28C=)
c.2637C= (p.Gly879=)
c.2631C= (p.Gly877=)
c.2286C= (p.Gly762=)
c.1887C= (p.Gly629=)
c.3609C= (p.Gly1203=)
n.2290C=
9g.133456121C>TCA860744134ADAMTS13c.3453C>T (p.Gly1151=)
c.3360C>T (p.Gly1120=)
c.9C>T (p.Gly3=)
c.*922C>T (n.*922C>T)
c.3621C>T (p.Gly1207=)
n.2269C>T
n.2288C>T
c.3231C>T (p.Gly1077=)
c.*28C>T (n.*28C>T)
c.2637C>T (p.Gly879=)
c.2631C>T (p.Gly877=)
c.2286C>T (p.Gly762=)
c.1887C>T (p.Gly629=)
c.3609C>T (p.Gly1203=)
n.2290C>T
 dbSNP gnomAD v3 gnomAD v4
9g.133456122C>ACA375415034ADAMTS13c.3454C>A (p.Pro1152Thr)
c.3361C>A (p.Pro1121Thr)
c.10C>A (p.Pro4Thr)
c.*923C>A (n.*923C>A)
c.3622C>A (p.Pro1208Thr)
n.2270C>A
n.2289C>A
c.3232C>A (p.Pro1078Thr)
c.*29C>A (n.*29C>A)
c.2638C>A (p.Pro880Thr)
c.2632C>A (p.Pro878Thr)
c.2287C>A (p.Pro763Thr)
c.1888C>A (p.Pro630Thr)
c.3610C>A (p.Pro1204Thr)
n.2291C>A
9g.133456122C>GCA375415038ADAMTS13c.3454C>G (p.Pro1152Ala)
c.3361C>G (p.Pro1121Ala)
c.10C>G (p.Pro4Ala)
c.*923C>G (n.*923C>G)
c.3622C>G (p.Pro1208Ala)
n.2270C>G
n.2289C>G
c.3232C>G (p.Pro1078Ala)
c.*29C>G (n.*29C>G)
c.2638C>G (p.Pro880Ala)
c.2632C>G (p.Pro878Ala)
c.2287C>G (p.Pro763Ala)
c.1888C>G (p.Pro630Ala)
c.3610C>G (p.Pro1204Ala)
n.2291C>G
9g.133456122C>TCA375415035ADAMTS13c.3454C>T (p.Pro1152Ser)
c.3361C>T (p.Pro1121Ser)
c.10C>T (p.Pro4Ser)
c.*923C>T (n.*923C>T)
c.3622C>T (p.Pro1208Ser)
n.2270C>T
n.2289C>T
c.3232C>T (p.Pro1078Ser)
c.*29C>T (n.*29C>T)
c.2638C>T (p.Pro880Ser)
c.2632C>T (p.Pro878Ser)
c.2287C>T (p.Pro763Ser)
c.1888C>T (p.Pro630Ser)
c.3610C>T (p.Pro1204Ser)
n.2291C>T
9g.133456123C>ACA375415040ADAMTS13c.3455C>A (p.Pro1152Gln)
c.3362C>A (p.Pro1121Gln)
c.11C>A (p.Pro4Gln)
c.*924C>A (n.*924C>A)
c.3623C>A (p.Pro1208Gln)
n.2271C>A
n.2290C>A
c.3233C>A (p.Pro1078Gln)
c.*30C>A (n.*30C>A)
c.2639C>A (p.Pro880Gln)
c.2633C>A (p.Pro878Gln)
c.2288C>A (p.Pro763Gln)
c.1889C>A (p.Pro630Gln)
c.3611C>A (p.Pro1204Gln)
n.2292C>A
9g.133456123C>GCA375415044ADAMTS13c.3455C>G (p.Pro1152Arg)
c.3362C>G (p.Pro1121Arg)
c.11C>G (p.Pro4Arg)
c.*924C>G (n.*924C>G)
c.3623C>G (p.Pro1208Arg)
n.2271C>G
n.2290C>G
c.3233C>G (p.Pro1078Arg)
c.*30C>G (n.*30C>G)
c.2639C>G (p.Pro880Arg)
c.2633C>G (p.Pro878Arg)
c.2288C>G (p.Pro763Arg)
c.1889C>G (p.Pro630Arg)
c.3611C>G (p.Pro1204Arg)
n.2292C>G
9g.133456123C>TCA375415043ADAMTS13c.3455C>T (p.Pro1152Leu)
c.3362C>T (p.Pro1121Leu)
c.11C>T (p.Pro4Leu)
c.*924C>T (n.*924C>T)
c.3623C>T (p.Pro1208Leu)
n.2271C>T
n.2290C>T
c.3233C>T (p.Pro1078Leu)
c.*30C>T (n.*30C>T)
c.2639C>T (p.Pro880Leu)
c.2633C>T (p.Pro878Leu)
c.2288C>T (p.Pro763Leu)
c.1889C>T (p.Pro630Leu)
c.3611C>T (p.Pro1204Leu)
n.2292C>T
 gnomAD v4
9g.133456124A=CA1882682446ADAMTS13c.3456A= (p.Pro1152=)
c.3363A= (p.Pro1121=)
c.12A= (p.Pro4=)
c.*925A= (n.*925A=)
c.3624A= (p.Pro1208=)
n.2272A=
n.2291A=
c.3234A= (p.Pro1078=)
c.*31A= (n.*31A=)
c.2640A= (p.Pro880=)
c.2634A= (p.Pro878=)
c.2289A= (p.Pro763=)
c.1890A= (p.Pro630=)
c.3612A= (p.Pro1204=)
n.2293A=
9g.133456124A>GCA1882682447ADAMTS13c.3456A>G (p.Pro1152=)
c.3363A>G (p.Pro1121=)
c.12A>G (p.Pro4=)
c.*925A>G (n.*925A>G)
c.3624A>G (p.Pro1208=)
n.2272A>G
n.2291A>G
c.3234A>G (p.Pro1078=)
c.*31A>G (n.*31A>G)
c.2640A>G (p.Pro880=)
c.2634A>G (p.Pro878=)
c.2289A>G (p.Pro763=)
c.1890A>G (p.Pro630=)
c.3612A>G (p.Pro1204=)
n.2293A>G
 dbSNP gnomAD v4
9g.133456124A>TCA2692365919ADAMTS13c.3456A>T (p.Pro1152=)
c.3363A>T (p.Pro1121=)
c.12A>T (p.Pro4=)
c.*925A>T (n.*925A>T)
c.3624A>T (p.Pro1208=)
n.2272A>T
n.2291A>T
c.3234A>T (p.Pro1078=)
c.*31A>T (n.*31A>T)
c.2640A>T (p.Pro880=)
c.2634A>T (p.Pro878=)
c.2289A>T (p.Pro763=)
c.1890A>T (p.Pro630=)
c.3612A>T (p.Pro1204=)
n.2293A>T
 gnomAD v4
9g.133456125G>ACA375415047ADAMTS13c.3457G>A (p.Gly1153Arg)
c.3364G>A (p.Gly1122Arg)
c.13G>A (p.Gly5Arg)
c.*926G>A (n.*926G>A)
c.3625G>A (p.Gly1209Arg)
n.2273G>A
n.2292G>A
c.3235G>A (p.Gly1079Arg)
c.*32G>A (n.*32G>A)
c.2641G>A (p.Gly881Arg)
c.2635G>A (p.Gly879Arg)
c.2290G>A (p.Gly764Arg)
c.1891G>A (p.Gly631Arg)
c.3613G>A (p.Gly1205Arg)
n.2294G>A
9g.133456125G>CCA375415051ADAMTS13c.3457G>C (p.Gly1153Arg)
c.3364G>C (p.Gly1122Arg)
c.13G>C (p.Gly5Arg)
c.*926G>C (n.*926G>C)
c.3625G>C (p.Gly1209Arg)
n.2273G>C
n.2292G>C
c.3235G>C (p.Gly1079Arg)
c.*32G>C (n.*32G>C)
c.2641G>C (p.Gly881Arg)
c.2635G>C (p.Gly879Arg)
c.2290G>C (p.Gly764Arg)
c.1891G>C (p.Gly631Arg)
c.3613G>C (p.Gly1205Arg)
n.2294G>C
9g.133456125G>TCA375415049ADAMTS13c.3457G>T (p.Gly1153Trp)
c.3364G>T (p.Gly1122Trp)
c.13G>T (p.Gly5Trp)
c.*926G>T (n.*926G>T)
c.3625G>T (p.Gly1209Trp)
n.2273G>T
n.2292G>T
c.3235G>T (p.Gly1079Trp)
c.*32G>T (n.*32G>T)
c.2641G>T (p.Gly881Trp)
c.2635G>T (p.Gly879Trp)
c.2290G>T (p.Gly764Trp)
c.1891G>T (p.Gly631Trp)
c.3613G>T (p.Gly1205Trp)
n.2294G>T
9g.133456126G>ACA375415057ADAMTS13c.3458G>A (p.Gly1153Glu)
c.3365G>A (p.Gly1122Glu)
c.14G>A (p.Gly5Glu)
c.*927G>A (n.*927G>A)
c.3626G>A (p.Gly1209Glu)
n.2274G>A
n.2293G>A
c.3236G>A (p.Gly1079Glu)
c.*33G>A (n.*33G>A)
c.2642G>A (p.Gly881Glu)
c.2636G>A (p.Gly879Glu)
c.2291G>A (p.Gly764Glu)
c.1892G>A (p.Gly631Glu)
c.3614G>A (p.Gly1205Glu)
n.2295G>A
 dbSNP gnomAD v3 gnomAD v4
9g.133456126G>CCA375415058ADAMTS13c.3458G>C (p.Gly1153Ala)
c.3365G>C (p.Gly1122Ala)
c.14G>C (p.Gly5Ala)
c.*927G>C (n.*927G>C)
c.3626G>C (p.Gly1209Ala)
n.2274G>C
n.2293G>C
c.3236G>C (p.Gly1079Ala)
c.*33G>C (n.*33G>C)
c.2642G>C (p.Gly881Ala)
c.2636G>C (p.Gly879Ala)
c.2291G>C (p.Gly764Ala)
c.1892G>C (p.Gly631Ala)
c.3614G>C (p.Gly1205Ala)
n.2295G>C
9g.133456126G=CA1882682448ADAMTS13c.3458G= (p.Gly1153=)
c.3365G= (p.Gly1122=)
c.14G= (p.Gly5=)
c.*927G= (n.*927G=)
c.3626G= (p.Gly1209=)
n.2274G=
n.2293G=
c.3236G= (p.Gly1079=)
c.*33G= (n.*33G=)
c.2642G= (p.Gly881=)
c.2636G= (p.Gly879=)
c.2291G= (p.Gly764=)
c.1892G= (p.Gly631=)
c.3614G= (p.Gly1205=)
n.2295G=
9g.133456126G>TCA375415059ADAMTS13c.3458G>T (p.Gly1153Val)
c.3365G>T (p.Gly1122Val)
c.14G>T (p.Gly5Val)
c.*927G>T (n.*927G>T)
c.3626G>T (p.Gly1209Val)
n.2274G>T
n.2293G>T
c.3236G>T (p.Gly1079Val)
c.*33G>T (n.*33G>T)
c.2642G>T (p.Gly881Val)
c.2636G>T (p.Gly879Val)
c.2291G>T (p.Gly764Val)
c.1892G>T (p.Gly631Val)
c.3614G>T (p.Gly1205Val)
n.2295G>T
9g.133456127G>ACA645549620ADAMTS13c.3459G>A (p.Gly1153=)
c.3366G>A (p.Gly1122=)
c.15G>A (p.Gly5=)
c.*928G>A (n.*928G>A)
c.3627G>A (p.Gly1209=)
n.2275G>A
n.2294G>A
c.3237G>A (p.Gly1079=)
c.*34G>A (n.*34G>A)
c.2643G>A (p.Gly881=)
c.2637G>A (p.Gly879=)
c.2292G>A (p.Gly764=)
c.1893G>A (p.Gly631=)
c.3615G>A (p.Gly1205=)
n.2296G>A
 COSMIC
9g.133456128C>ACA200944762ADAMTS13c.3460C>A (p.Gln1154Lys)
c.3367C>A (p.Gln1123Lys)
c.16C>A (p.Gln6Lys)
c.*929C>A (n.*929C>A)
c.3628C>A (p.Gln1210Lys)
n.2276C>A
n.2295C>A
c.3238C>A (p.Gln1080Lys)
c.*35C>A (n.*35C>A)
c.2644C>A (p.Gln882Lys)
c.2638C>A (p.Gln880Lys)
c.2293C>A (p.Gln765Lys)
c.1894C>A (p.Gln632Lys)
c.3616C>A (p.Gln1206Lys)
n.2297C>A
 dbSNP gnomAD v3 gnomAD v4
9g.133456128C=CA1882682449ADAMTS13c.3460C= (p.Gln1154=)
c.3367C= (p.Gln1123=)
c.16C= (p.Gln6=)
c.*929C= (n.*929C=)
c.3628C= (p.Gln1210=)
n.2276C=
n.2295C=
c.3238C= (p.Gln1080=)
c.*35C= (n.*35C=)
c.2644C= (p.Gln882=)
c.2638C= (p.Gln880=)
c.2293C= (p.Gln765=)
c.1894C= (p.Gln632=)
c.3616C= (p.Gln1206=)
n.2297C=
9g.133456128C>GCA375415064ADAMTS13c.3460C>G (p.Gln1154Glu)
c.3367C>G (p.Gln1123Glu)
c.16C>G (p.Gln6Glu)
c.*929C>G (n.*929C>G)
c.3628C>G (p.Gln1210Glu)
n.2276C>G
n.2295C>G
c.3238C>G (p.Gln1080Glu)
c.*35C>G (n.*35C>G)
c.2644C>G (p.Gln882Glu)
c.2638C>G (p.Gln880Glu)
c.2293C>G (p.Gln765Glu)
c.1894C>G (p.Gln632Glu)
c.3616C>G (p.Gln1206Glu)
n.2297C>G
 dbSNP gnomAD v4
9g.133456128C>TCA375415066ADAMTS13c.3460C>T (p.Gln1154Ter)
c.3367C>T (p.Gln1123Ter)
c.16C>T (p.Gln6Ter)
c.*929C>T (n.*929C>T)
c.3628C>T (p.Gln1210Ter)
n.2276C>T
n.2295C>T
c.3238C>T (p.Gln1080Ter)
c.*35C>T (n.*35C>T)
c.2644C>T (p.Gln882Ter)
c.2638C>T (p.Gln880Ter)
c.2293C>T (p.Gln765Ter)
c.1894C>T (p.Gln632Ter)
c.3616C>T (p.Gln1206Ter)
n.2297C>T
9g.133456129A>CCA375415076ADAMTS13c.3461A>C (p.Gln1154Pro)
c.3368A>C (p.Gln1123Pro)
c.17A>C (p.Gln6Pro)
c.*930A>C (n.*930A>C)
c.3629A>C (p.Gln1210Pro)
n.2277A>C
n.2296A>C
c.3239A>C (p.Gln1080Pro)
c.*36A>C (n.*36A>C)
c.2645A>C (p.Gln882Pro)
c.2639A>C (p.Gln880Pro)
c.2294A>C (p.Gln765Pro)
c.1895A>C (p.Gln632Pro)
c.3617A>C (p.Gln1206Pro)
n.2298A>C
9g.133456129A>GCA375415070ADAMTS13c.3461A>G (p.Gln1154Arg)
c.3368A>G (p.Gln1123Arg)
c.17A>G (p.Gln6Arg)
c.*930A>G (n.*930A>G)
c.3629A>G (p.Gln1210Arg)
n.2277A>G
n.2296A>G
c.3239A>G (p.Gln1080Arg)
c.*36A>G (n.*36A>G)
c.2645A>G (p.Gln882Arg)
c.2639A>G (p.Gln880Arg)
c.2294A>G (p.Gln765Arg)
c.1895A>G (p.Gln632Arg)
c.3617A>G (p.Gln1206Arg)
n.2298A>G
 gnomAD v4
9g.133456129A>TCA375415073ADAMTS13c.3461A>T (p.Gln1154Leu)
c.3368A>T (p.Gln1123Leu)
c.17A>T (p.Gln6Leu)
c.*930A>T (n.*930A>T)
c.3629A>T (p.Gln1210Leu)
n.2277A>T
n.2296A>T
c.3239A>T (p.Gln1080Leu)
c.*36A>T (n.*36A>T)
c.2645A>T (p.Gln882Leu)
c.2639A>T (p.Gln880Leu)
c.2294A>T (p.Gln765Leu)
c.1895A>T (p.Gln632Leu)
c.3617A>T (p.Gln1206Leu)
n.2298A>T
9g.133456130G>CCA375415078ADAMTS13c.3462G>C (p.Gln1154His)
c.3369G>C (p.Gln1123His)
c.18G>C (p.Gln6His)
c.*931G>C (n.*931G>C)
c.3630G>C (p.Gln1210His)
n.2278G>C
n.2297G>C
c.3240G>C (p.Gln1080His)
c.*37G>C (n.*37G>C)
c.2646G>C (p.Gln882His)
c.2640G>C (p.Gln880His)
c.2295G>C (p.Gln765His)
c.1896G>C (p.Gln632His)
c.3618G>C (p.Gln1206His)
n.2299G>C
9g.133456130G>TCA375415080ADAMTS13c.3462G>T (p.Gln1154His)
c.3369G>T (p.Gln1123His)
c.18G>T (p.Gln6His)
c.*931G>T (n.*931G>T)
c.3630G>T (p.Gln1210His)
n.2278G>T
n.2297G>T
c.3240G>T (p.Gln1080His)
c.*37G>T (n.*37G>T)
c.2646G>T (p.Gln882His)
c.2640G>T (p.Gln880His)
c.2295G>T (p.Gln765His)
c.1896G>T (p.Gln632His)
c.3618G>T (p.Gln1206His)
n.2299G>T
9g.133456131G>ACA375415081ADAMTS13c.3463G>A (p.Ala1155Thr)
c.3370G>A (p.Ala1124Thr)
c.19G>A (p.Ala7Thr)
c.*932G>A (n.*932G>A)
c.3631G>A (p.Ala1211Thr)
n.2279G>A
n.2298G>A
c.3241G>A (p.Ala1081Thr)
c.*38G>A (n.*38G>A)
c.2647G>A (p.Ala883Thr)
c.2641G>A (p.Ala881Thr)
c.2296G>A (p.Ala766Thr)
c.1897G>A (p.Ala633Thr)
c.3619G>A (p.Ala1207Thr)
n.2300G>A
9g.133456131G>CCA375415082ADAMTS13c.3463G>C (p.Ala1155Pro)
c.3370G>C (p.Ala1124Pro)
c.19G>C (p.Ala7Pro)
c.*932G>C (n.*932G>C)
c.3631G>C (p.Ala1211Pro)
n.2279G>C
n.2298G>C
c.3241G>C (p.Ala1081Pro)
c.*38G>C (n.*38G>C)
c.2647G>C (p.Ala883Pro)
c.2641G>C (p.Ala881Pro)
c.2296G>C (p.Ala766Pro)
c.1897G>C (p.Ala633Pro)
c.3619G>C (p.Ala1207Pro)
n.2300G>C
9g.133456131G>TCA375415083ADAMTS13c.3463G>T (p.Ala1155Ser)
c.3370G>T (p.Ala1124Ser)
c.19G>T (p.Ala7Ser)
c.*932G>T (n.*932G>T)
c.3631G>T (p.Ala1211Ser)
n.2279G>T
n.2298G>T
c.3241G>T (p.Ala1081Ser)
c.*38G>T (n.*38G>T)
c.2647G>T (p.Ala883Ser)
c.2641G>T (p.Ala881Ser)
c.2296G>T (p.Ala766Ser)
c.1897G>T (p.Ala633Ser)
c.3619G>T (p.Ala1207Ser)
n.2300G>T
9g.133456132C>ACA375415086ADAMTS13c.3464C>A (p.Ala1155Glu)
c.3371C>A (p.Ala1124Glu)
c.20C>A (p.Ala7Glu)
c.*933C>A (n.*933C>A)
c.3632C>A (p.Ala1211Glu)
n.2280C>A
n.2299C>A
c.3242C>A (p.Ala1081Glu)
c.*39C>A (n.*39C>A)
c.2648C>A (p.Ala883Glu)
c.2642C>A (p.Ala881Glu)
c.2297C>A (p.Ala766Glu)
c.1898C>A (p.Ala633Glu)
c.3620C>A (p.Ala1207Glu)
n.2301C>A
9g.133456132C>GCA375415091ADAMTS13c.3464C>G (p.Ala1155Gly)
c.3371C>G (p.Ala1124Gly)
c.20C>G (p.Ala7Gly)
c.*933C>G (n.*933C>G)
c.3632C>G (p.Ala1211Gly)
n.2280C>G
n.2299C>G
c.3242C>G (p.Ala1081Gly)
c.*39C>G (n.*39C>G)
c.2648C>G (p.Ala883Gly)
c.2642C>G (p.Ala881Gly)
c.2297C>G (p.Ala766Gly)
c.1898C>G (p.Ala633Gly)
c.3620C>G (p.Ala1207Gly)
n.2301C>G
9g.133456132C>TCA375415089ADAMTS13c.3464C>T (p.Ala1155Val)
c.3371C>T (p.Ala1124Val)
c.20C>T (p.Ala7Val)
c.*933C>T (n.*933C>T)
c.3632C>T (p.Ala1211Val)
n.2280C>T
n.2299C>T
c.3242C>T (p.Ala1081Val)
c.*39C>T (n.*39C>T)
c.2648C>T (p.Ala883Val)
c.2642C>T (p.Ala881Val)
c.2297C>T (p.Ala766Val)
c.1898C>T (p.Ala633Val)
c.3620C>T (p.Ala1207Val)
n.2301C>T
9g.133456134G>ACA375415095ADAMTS13c.3466G>A (p.Asp1156Asn)
c.3373G>A (p.Asp1125Asn)
c.22G>A (p.Asp8Asn)
c.*935G>A (n.*935G>A)
c.3634G>A (p.Asp1212Asn)
n.2282G>A
n.2301G>A
c.3244G>A (p.Asp1082Asn)
c.*41G>A (n.*41G>A)
c.2650G>A (p.Asp884Asn)
c.2644G>A (p.Asp882Asn)
c.2299G>A (p.Asp767Asn)
c.1900G>A (p.Asp634Asn)
c.3622G>A (p.Asp1208Asn)
n.2303G>A
9g.133456134G>CCA375415097ADAMTS13c.3466G>C (p.Asp1156His)
c.3373G>C (p.Asp1125His)
c.22G>C (p.Asp8His)
c.*935G>C (n.*935G>C)
c.3634G>C (p.Asp1212His)
n.2282G>C
n.2301G>C
c.3244G>C (p.Asp1082His)
c.*41G>C (n.*41G>C)
c.2650G>C (p.Asp884His)
c.2644G>C (p.Asp882His)
c.2299G>C (p.Asp767His)
c.1900G>C (p.Asp634His)
c.3622G>C (p.Asp1208His)
n.2303G>C
9g.133456134G>TCA375415099ADAMTS13c.3466G>T (p.Asp1156Tyr)
c.3373G>T (p.Asp1125Tyr)
c.22G>T (p.Asp8Tyr)
c.*935G>T (n.*935G>T)
c.3634G>T (p.Asp1212Tyr)
n.2282G>T
n.2301G>T
c.3244G>T (p.Asp1082Tyr)
c.*41G>T (n.*41G>T)
c.2650G>T (p.Asp884Tyr)
c.2644G>T (p.Asp882Tyr)
c.2299G>T (p.Asp767Tyr)
c.1900G>T (p.Asp634Tyr)
c.3622G>T (p.Asp1208Tyr)
n.2303G>T
9g.133456135A>CCA375415103ADAMTS13c.3467A>C (p.Asp1156Ala)
c.3374A>C (p.Asp1125Ala)
c.23A>C (p.Asp8Ala)
c.*936A>C (n.*936A>C)
c.3635A>C (p.Asp1212Ala)
n.2283A>C
n.2302A>C
c.3245A>C (p.Asp1082Ala)
c.*42A>C (n.*42A>C)
c.2651A>C (p.Asp884Ala)
c.2645A>C (p.Asp882Ala)
c.2300A>C (p.Asp767Ala)
c.1901A>C (p.Asp634Ala)
c.3623A>C (p.Asp1208Ala)
n.2304A>C
9g.133456135A>GCA375415106ADAMTS13c.3467A>G (p.Asp1156Gly)
c.3374A>G (p.Asp1125Gly)
c.23A>G (p.Asp8Gly)
c.*936A>G (n.*936A>G)
c.3635A>G (p.Asp1212Gly)
n.2283A>G
n.2302A>G
c.3245A>G (p.Asp1082Gly)
c.*42A>G (n.*42A>G)
c.2651A>G (p.Asp884Gly)
c.2645A>G (p.Asp882Gly)
c.2300A>G (p.Asp767Gly)
c.1901A>G (p.Asp634Gly)
c.3623A>G (p.Asp1208Gly)
n.2304A>G
 dbSNP gnomAD v4
9g.133456135A>TCA375415108ADAMTS13c.3467A>T (p.Asp1156Val)
c.3374A>T (p.Asp1125Val)
c.23A>T (p.Asp8Val)
c.*936A>T (n.*936A>T)
c.3635A>T (p.Asp1212Val)
n.2283A>T
n.2302A>T
c.3245A>T (p.Asp1082Val)
c.*42A>T (n.*42A>T)
c.2651A>T (p.Asp884Val)
c.2645A>T (p.Asp882Val)
c.2300A>T (p.Asp767Val)
c.1901A>T (p.Asp634Val)
c.3623A>T (p.Asp1208Val)
n.2304A>T
9g.133456136C>ACA375415111ADAMTS13c.3468C>A (p.Asp1156Glu)
c.3375C>A (p.Asp1125Glu)
c.24C>A (p.Asp8Glu)
c.*937C>A (n.*937C>A)
c.3636C>A (p.Asp1212Glu)
n.2284C>A
n.2303C>A
c.3246C>A (p.Asp1082Glu)
c.*43C>A (n.*43C>A)
c.2652C>A (p.Asp884Glu)
c.2646C>A (p.Asp882Glu)
c.2301C>A (p.Asp767Glu)
c.1902C>A (p.Asp634Glu)
c.3624C>A (p.Asp1208Glu)
n.2305C>A
9g.133456136C=CA1882682450ADAMTS13c.3468C= (p.Asp1156=)
c.3375C= (p.Asp1125=)
c.24C= (p.Asp8=)
c.*937C= (n.*937C=)
c.3636C= (p.Asp1212=)
n.2284C=
n.2303C=
c.3246C= (p.Asp1082=)
c.*43C= (n.*43C=)
c.2652C= (p.Asp884=)
c.2646C= (p.Asp882=)
c.2301C= (p.Asp767=)
c.1902C= (p.Asp634=)
c.3624C= (p.Asp1208=)
n.2305C=
9g.133456136C>GCA375415114ADAMTS13c.3468C>G (p.Asp1156Glu)
c.3375C>G (p.Asp1125Glu)
c.24C>G (p.Asp8Glu)
c.*937C>G (n.*937C>G)
c.3636C>G (p.Asp1212Glu)
n.2284C>G
n.2303C>G
c.3246C>G (p.Asp1082Glu)
c.*43C>G (n.*43C>G)
c.2652C>G (p.Asp884Glu)
c.2646C>G (p.Asp882Glu)
c.2301C>G (p.Asp767Glu)
c.1902C>G (p.Asp634Glu)
c.3624C>G (p.Asp1208Glu)
n.2305C>G
9g.133456136C>TCA860744144ADAMTS13c.3468C>T (p.Asp1156=)
c.3375C>T (p.Asp1125=)
c.24C>T (p.Asp8=)
c.*937C>T (n.*937C>T)
c.3636C>T (p.Asp1212=)
n.2284C>T
n.2303C>T
c.3246C>T (p.Asp1082=)
c.*43C>T (n.*43C>T)
c.2652C>T (p.Asp884=)
c.2646C>T (p.Asp882=)
c.2301C>T (p.Asp767=)
c.1902C>T (p.Asp634=)
c.3624C>T (p.Asp1208=)
n.2305C>T
 dbSNP gnomAD v4
9g.133456137T>ACA375415117ADAMTS13c.3469T>A (p.Cys1157Ser)
c.3376T>A (p.Cys1126Ser)
c.25T>A (p.Cys9Ser)
c.*938T>A (n.*938T>A)
c.3637T>A (p.Cys1213Ser)
n.2285T>A
n.2304T>A
c.3247T>A (p.Cys1083Ser)
c.*44T>A (n.*44T>A)
c.2653T>A (p.Cys885Ser)
c.2647T>A (p.Cys883Ser)
c.2302T>A (p.Cys768Ser)
c.1903T>A (p.Cys635Ser)
c.3625T>A (p.Cys1209Ser)
n.2306T>A
 gnomAD v4
9g.133456137T>CCA375415119ADAMTS13c.3469T>C (p.Cys1157Arg)
c.3376T>C (p.Cys1126Arg)
c.25T>C (p.Cys9Arg)
c.*938T>C (n.*938T>C)
c.3637T>C (p.Cys1213Arg)
n.2285T>C
n.2304T>C
c.3247T>C (p.Cys1083Arg)
c.*44T>C (n.*44T>C)
c.2653T>C (p.Cys885Arg)
c.2647T>C (p.Cys883Arg)
c.2302T>C (p.Cys768Arg)
c.1903T>C (p.Cys635Arg)
c.3625T>C (p.Cys1209Arg)
n.2306T>C
 dbSNP gnomAD v4
9g.133456137T>GCA375415124ADAMTS13c.3469T>G (p.Cys1157Gly)
c.3376T>G (p.Cys1126Gly)
c.25T>G (p.Cys9Gly)
c.*938T>G (n.*938T>G)
c.3637T>G (p.Cys1213Gly)
n.2285T>G
n.2304T>G
c.3247T>G (p.Cys1083Gly)
c.*44T>G (n.*44T>G)
c.2653T>G (p.Cys885Gly)
c.2647T>G (p.Cys883Gly)
c.2302T>G (p.Cys768Gly)
c.1903T>G (p.Cys635Gly)
c.3625T>G (p.Cys1209Gly)
n.2306T>G
9g.133456137T=CA1882682451ADAMTS13c.3469T= (p.Cys1157=)
c.3376T= (p.Cys1126=)
c.25T= (p.Cys9=)
c.*938T= (n.*938T=)
c.3637T= (p.Cys1213=)
n.2285T=
n.2304T=
c.3247T= (p.Cys1083=)
c.*44T= (n.*44T=)
c.2653T= (p.Cys885=)
c.2647T= (p.Cys883=)
c.2302T= (p.Cys768=)
c.1903T= (p.Cys635=)
c.3625T= (p.Cys1209=)
n.2306T=
9g.133456138G>ACA117766ADAMTS13c.3470G>A (p.Cys1157Tyr)
c.3377G>A (p.Cys1126Tyr)
c.26G>A (p.Cys9Tyr)
c.*939G>A (n.*939G>A)
c.3638G>A (p.Cys1213Tyr)
n.2286G>A
n.2305G>A
c.3248G>A (p.Cys1083Tyr)
c.*45G>A (n.*45G>A)
c.2654G>A (p.Cys885Tyr)
c.2648G>A (p.Cys883Tyr)
c.2303G>A (p.Cys768Tyr)
c.1904G>A (p.Cys635Tyr)
c.3626G>A (p.Cys1209Tyr)
n.2307G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456138G>CCA375415143ADAMTS13c.3470G>C (p.Cys1157Ser)
c.3377G>C (p.Cys1126Ser)
c.26G>C (p.Cys9Ser)
c.*939G>C (n.*939G>C)
c.3638G>C (p.Cys1213Ser)
n.2286G>C
n.2305G>C
c.3248G>C (p.Cys1083Ser)
c.*45G>C (n.*45G>C)
c.2654G>C (p.Cys885Ser)
c.2648G>C (p.Cys883Ser)
c.2303G>C (p.Cys768Ser)
c.1904G>C (p.Cys635Ser)
c.3626G>C (p.Cys1209Ser)
n.2307G>C
 gnomAD v4
9g.133456138G=CA1882682452ADAMTS13c.3470G= (p.Cys1157=)
c.3377G= (p.Cys1126=)
c.26G= (p.Cys9=)
c.*939G= (n.*939G=)
c.3638G= (p.Cys1213=)
n.2286G=
n.2305G=
c.3248G= (p.Cys1083=)
c.*45G= (n.*45G=)
c.2654G= (p.Cys885=)
c.2648G= (p.Cys883=)
c.2303G= (p.Cys768=)
c.1904G= (p.Cys635=)
c.3626G= (p.Cys1209=)
n.2307G=
9g.133456138G>TCA375415139ADAMTS13c.3470G>T (p.Cys1157Phe)
c.3377G>T (p.Cys1126Phe)
c.26G>T (p.Cys9Phe)
c.*939G>T (n.*939G>T)
c.3638G>T (p.Cys1213Phe)
n.2286G>T
n.2305G>T
c.3248G>T (p.Cys1083Phe)
c.*45G>T (n.*45G>T)
c.2654G>T (p.Cys885Phe)
c.2648G>T (p.Cys883Phe)
c.2303G>T (p.Cys768Phe)
c.1904G>T (p.Cys635Phe)
c.3626G>T (p.Cys1209Phe)
n.2307G>T
9g.133456139T>ACA375415147ADAMTS13c.3471T>A (p.Cys1157Ter)
c.3378T>A (p.Cys1126Ter)
c.27T>A (p.Cys9Ter)
c.*940T>A (n.*940T>A)
c.3639T>A (p.Cys1213Ter)
n.2287T>A
n.2306T>A
c.3249T>A (p.Cys1083Ter)
c.*46T>A (n.*46T>A)
c.2655T>A (p.Cys885Ter)
c.2649T>A (p.Cys883Ter)
c.2304T>A (p.Cys768Ter)
c.1905T>A (p.Cys635Ter)
c.3627T>A (p.Cys1209Ter)
n.2308T>A
9g.133456139T>CCA1882682454ADAMTS13c.3471T>C (p.Cys1157=)
c.3378T>C (p.Cys1126=)
c.27T>C (p.Cys9=)
c.*940T>C (n.*940T>C)
c.3639T>C (p.Cys1213=)
n.2287T>C
n.2306T>C
c.3249T>C (p.Cys1083=)
c.*46T>C (n.*46T>C)
c.2655T>C (p.Cys885=)
c.2649T>C (p.Cys883=)
c.2304T>C (p.Cys768=)
c.1905T>C (p.Cys635=)
c.3627T>C (p.Cys1209=)
n.2308T>C
 dbSNP
9g.133456139T>GCA375415156ADAMTS13c.3471T>G (p.Cys1157Trp)
c.3378T>G (p.Cys1126Trp)
c.27T>G (p.Cys9Trp)
c.*940T>G (n.*940T>G)
c.3639T>G (p.Cys1213Trp)
n.2287T>G
n.2306T>G
c.3249T>G (p.Cys1083Trp)
c.*46T>G (n.*46T>G)
c.2655T>G (p.Cys885Trp)
c.2649T>G (p.Cys883Trp)
c.2304T>G (p.Cys768Trp)
c.1905T>G (p.Cys635Trp)
c.3627T>G (p.Cys1209Trp)
n.2308T>G
9g.133456139T=CA1882682453ADAMTS13c.3471T= (p.Cys1157=)
c.3378T= (p.Cys1126=)
c.27T= (p.Cys9=)
c.*940T= (n.*940T=)
c.3639T= (p.Cys1213=)
n.2287T=
n.2306T=
c.3249T= (p.Cys1083=)
c.*46T= (n.*46T=)
c.2655T= (p.Cys885=)
c.2649T= (p.Cys883=)
c.2304T= (p.Cys768=)
c.1905T= (p.Cys635=)
c.3627T= (p.Cys1209=)
n.2308T=
9g.133456140G>ACA375415160ADAMTS13c.3472G>A (p.Ala1158Thr)
c.3379G>A (p.Ala1127Thr)
c.28G>A (p.Ala10Thr)
c.*941G>A (n.*941G>A)
c.3640G>A (p.Ala1214Thr)
n.2288G>A
n.2307G>A
c.3250G>A (p.Ala1084Thr)
c.*47G>A (n.*47G>A)
c.2656G>A (p.Ala886Thr)
c.2650G>A (p.Ala884Thr)
c.2305G>A (p.Ala769Thr)
c.1906G>A (p.Ala636Thr)
c.3628G>A (p.Ala1210Thr)
n.2309G>A
9g.133456140G>CCA375415164ADAMTS13c.3472G>C (p.Ala1158Pro)
c.3379G>C (p.Ala1127Pro)
c.28G>C (p.Ala10Pro)
c.*941G>C (n.*941G>C)
c.3640G>C (p.Ala1214Pro)
n.2288G>C
n.2307G>C
c.3250G>C (p.Ala1084Pro)
c.*47G>C (n.*47G>C)
c.2656G>C (p.Ala886Pro)
c.2650G>C (p.Ala884Pro)
c.2305G>C (p.Ala769Pro)
c.1906G>C (p.Ala636Pro)
c.3628G>C (p.Ala1210Pro)
n.2309G>C
9g.133456140G>TCA375415166ADAMTS13c.3472G>T (p.Ala1158Ser)
c.3379G>T (p.Ala1127Ser)
c.28G>T (p.Ala10Ser)
c.*941G>T (n.*941G>T)
c.3640G>T (p.Ala1214Ser)
n.2288G>T
n.2307G>T
c.3250G>T (p.Ala1084Ser)
c.*47G>T (n.*47G>T)
c.2656G>T (p.Ala886Ser)
c.2650G>T (p.Ala884Ser)
c.2305G>T (p.Ala769Ser)
c.1906G>T (p.Ala636Ser)
c.3628G>T (p.Ala1210Ser)
n.2309G>T
9g.133456141C>ACA375415171ADAMTS13c.3473C>A (p.Ala1158Glu)
c.3380C>A (p.Ala1127Glu)
c.29C>A (p.Ala10Glu)
c.*942C>A (n.*942C>A)
c.3641C>A (p.Ala1214Glu)
n.2289C>A
n.2308C>A
c.3251C>A (p.Ala1084Glu)
c.*48C>A (n.*48C>A)
c.2657C>A (p.Ala886Glu)
c.2651C>A (p.Ala884Glu)
c.2306C>A (p.Ala769Glu)
c.1907C>A (p.Ala636Glu)
c.3629C>A (p.Ala1210Glu)
n.2310C>A
9g.133456141C=CA1882682455ADAMTS13c.3473C= (p.Ala1158=)
c.3380C= (p.Ala1127=)
c.29C= (p.Ala10=)
c.*942C= (n.*942C=)
c.3641C= (p.Ala1214=)
n.2289C=
n.2308C=
c.3251C= (p.Ala1084=)
c.*48C= (n.*48C=)
c.2657C= (p.Ala886=)
c.2651C= (p.Ala884=)
c.2306C= (p.Ala769=)
c.1907C= (p.Ala636=)
c.3629C= (p.Ala1210=)
n.2310C=
9g.133456141C>GCA375415174ADAMTS13c.3473C>G (p.Ala1158Gly)
c.3380C>G (p.Ala1127Gly)
c.29C>G (p.Ala10Gly)
c.*942C>G (n.*942C>G)
c.3641C>G (p.Ala1214Gly)
n.2289C>G
n.2308C>G
c.3251C>G (p.Ala1084Gly)
c.*48C>G (n.*48C>G)
c.2657C>G (p.Ala886Gly)
c.2651C>G (p.Ala884Gly)
c.2306C>G (p.Ala769Gly)
c.1907C>G (p.Ala636Gly)
c.3629C>G (p.Ala1210Gly)
n.2310C>G
9g.133456141C>TCA200944766ADAMTS13c.3473C>T (p.Ala1158Val)
c.3380C>T (p.Ala1127Val)
c.29C>T (p.Ala10Val)
c.*942C>T (n.*942C>T)
c.3641C>T (p.Ala1214Val)
n.2289C>T
n.2308C>T
c.3251C>T (p.Ala1084Val)
c.*48C>T (n.*48C>T)
c.2657C>T (p.Ala886Val)
c.2651C>T (p.Ala884Val)
c.2306C>T (p.Ala769Val)
c.1907C>T (p.Ala636Val)
c.3629C>T (p.Ala1210Val)
n.2310C>T
 dbSNP gnomAD v4
9g.133456142A=CA1882682456ADAMTS13c.3474A= (p.Ala1158=)
c.3381A= (p.Ala1127=)
c.30A= (p.Ala10=)
c.*943A= (n.*943A=)
c.3642A= (p.Ala1214=)
n.2290A=
n.2309A=
c.3252A= (p.Ala1084=)
c.*49A= (n.*49A=)
c.2658A= (p.Ala886=)
c.2652A= (p.Ala884=)
c.2307A= (p.Ala769=)
c.1908A= (p.Ala636=)
c.3630A= (p.Ala1210=)
n.2311A=
9g.133456142A>GCA860744161ADAMTS13c.3474A>G (p.Ala1158=)
c.3381A>G (p.Ala1127=)
c.30A>G (p.Ala10=)
c.*943A>G (n.*943A>G)
c.3642A>G (p.Ala1214=)
n.2290A>G
n.2309A>G
c.3252A>G (p.Ala1084=)
c.*49A>G (n.*49A>G)
c.2658A>G (p.Ala886=)
c.2652A>G (p.Ala884=)
c.2307A>G (p.Ala769=)
c.1908A>G (p.Ala636=)
c.3630A>G (p.Ala1210=)
n.2311A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456143G>ACA375415182ADAMTS13c.3475G>A (p.Val1159Met)
c.3382G>A (p.Val1128Met)
c.31G>A (p.Val11Met)
c.*944G>A (n.*944G>A)
c.3643G>A (p.Val1215Met)
n.2291G>A
n.2310G>A
c.3253G>A (p.Val1085Met)
c.*50G>A (n.*50G>A)
c.2659G>A (p.Val887Met)
c.2653G>A (p.Val885Met)
c.2308G>A (p.Val770Met)
c.1909G>A (p.Val637Met)
c.3631G>A (p.Val1211Met)
n.2312G>A
9g.133456143G>CCA375415186ADAMTS13c.3475G>C (p.Val1159Leu)
c.3382G>C (p.Val1128Leu)
c.31G>C (p.Val11Leu)
c.*944G>C (n.*944G>C)
c.3643G>C (p.Val1215Leu)
n.2291G>C
n.2310G>C
c.3253G>C (p.Val1085Leu)
c.*50G>C (n.*50G>C)
c.2659G>C (p.Val887Leu)
c.2653G>C (p.Val885Leu)
c.2308G>C (p.Val770Leu)
c.1909G>C (p.Val637Leu)
c.3631G>C (p.Val1211Leu)
n.2312G>C
9g.133456143G>TCA375415189ADAMTS13c.3475G>T (p.Val1159Leu)
c.3382G>T (p.Val1128Leu)
c.31G>T (p.Val11Leu)
c.*944G>T (n.*944G>T)
c.3643G>T (p.Val1215Leu)
n.2291G>T
n.2310G>T
c.3253G>T (p.Val1085Leu)
c.*50G>T (n.*50G>T)
c.2659G>T (p.Val887Leu)
c.2653G>T (p.Val885Leu)
c.2308G>T (p.Val770Leu)
c.1909G>T (p.Val637Leu)
c.3631G>T (p.Val1211Leu)
n.2312G>T
9g.133456144T>ACA375415200ADAMTS13c.3476T>A (p.Val1159Glu)
c.3383T>A (p.Val1128Glu)
c.32T>A (p.Val11Glu)
c.*945T>A (n.*945T>A)
c.3644T>A (p.Val1215Glu)
n.2292T>A
n.2311T>A
c.3254T>A (p.Val1085Glu)
c.*51T>A (n.*51T>A)
c.2660T>A (p.Val887Glu)
c.2654T>A (p.Val885Glu)
c.2309T>A (p.Val770Glu)
c.1910T>A (p.Val637Glu)
c.3632T>A (p.Val1211Glu)
n.2313T>A
9g.133456144T>CCA375415197ADAMTS13c.3476T>C (p.Val1159Ala)
c.3383T>C (p.Val1128Ala)
c.32T>C (p.Val11Ala)
c.*945T>C (n.*945T>C)
c.3644T>C (p.Val1215Ala)
n.2292T>C
n.2311T>C
c.3254T>C (p.Val1085Ala)
c.*51T>C (n.*51T>C)
c.2660T>C (p.Val887Ala)
c.2654T>C (p.Val885Ala)
c.2309T>C (p.Val770Ala)
c.1910T>C (p.Val637Ala)
c.3632T>C (p.Val1211Ala)
n.2313T>C
9g.133456144T>GCA375415193ADAMTS13c.3476T>G (p.Val1159Gly)
c.3383T>G (p.Val1128Gly)
c.32T>G (p.Val11Gly)
c.*945T>G (n.*945T>G)
c.3644T>G (p.Val1215Gly)
n.2292T>G
n.2311T>G
c.3254T>G (p.Val1085Gly)
c.*51T>G (n.*51T>G)
c.2660T>G (p.Val887Gly)
c.2654T>G (p.Val885Gly)
c.2309T>G (p.Val770Gly)
c.1910T>G (p.Val637Gly)
c.3632T>G (p.Val1211Gly)
n.2313T>G
 gnomAD v4
9g.133456145G>ACA2692365987ADAMTS13c.3477G>A (p.Val1159=)
c.3384G>A (p.Val1128=)
c.33G>A (p.Val11=)
c.*946G>A (n.*946G>A)
c.3645G>A (p.Val1215=)
n.2293G>A
n.2312G>A
c.3255G>A (p.Val1085=)
c.*52G>A (n.*52G>A)
c.2661G>A (p.Val887=)
c.2655G>A (p.Val885=)
c.2310G>A (p.Val770=)
c.1911G>A (p.Val637=)
c.3633G>A (p.Val1211=)
n.2314G>A
 gnomAD v4
9g.133456146G>ACA375415201ADAMTS13c.3478G>A (p.Ala1160Thr)
c.3385G>A (p.Ala1129Thr)
c.34G>A (p.Ala12Thr)
c.*947G>A (n.*947G>A)
c.3646G>A (p.Ala1216Thr)
n.2294G>A
n.2313G>A
c.3256G>A (p.Ala1086Thr)
c.*53G>A (n.*53G>A)
c.2662G>A (p.Ala888Thr)
c.2656G>A (p.Ala886Thr)
c.2311G>A (p.Ala771Thr)
c.1912G>A (p.Ala638Thr)
c.3634G>A (p.Ala1212Thr)
n.2315G>A
 dbSNP gnomAD v4
9g.133456146G>CCA375415202ADAMTS13c.3478G>C (p.Ala1160Pro)
c.3385G>C (p.Ala1129Pro)
c.34G>C (p.Ala12Pro)
c.*947G>C (n.*947G>C)
c.3646G>C (p.Ala1216Pro)
n.2294G>C
n.2313G>C
c.3256G>C (p.Ala1086Pro)
c.*53G>C (n.*53G>C)
c.2662G>C (p.Ala888Pro)
c.2656G>C (p.Ala886Pro)
c.2311G>C (p.Ala771Pro)
c.1912G>C (p.Ala638Pro)
c.3634G>C (p.Ala1212Pro)
n.2315G>C
9g.133456146G=CA1882682457ADAMTS13c.3478G= (p.Ala1160=)
c.3385G= (p.Ala1129=)
c.34G= (p.Ala12=)
c.*947G= (n.*947G=)
c.3646G= (p.Ala1216=)
n.2294G=
n.2313G=
c.3256G= (p.Ala1086=)
c.*53G= (n.*53G=)
c.2662G= (p.Ala888=)
c.2656G= (p.Ala886=)
c.2311G= (p.Ala771=)
c.1912G= (p.Ala638=)
c.3634G= (p.Ala1212=)
n.2315G=
9g.133456146G>TCA375415203ADAMTS13c.3478G>T (p.Ala1160Ser)
c.3385G>T (p.Ala1129Ser)
c.34G>T (p.Ala12Ser)
c.*947G>T (n.*947G>T)
c.3646G>T (p.Ala1216Ser)
n.2294G>T
n.2313G>T
c.3256G>T (p.Ala1086Ser)
c.*53G>T (n.*53G>T)
c.2662G>T (p.Ala888Ser)
c.2656G>T (p.Ala886Ser)
c.2311G>T (p.Ala771Ser)
c.1912G>T (p.Ala638Ser)
c.3634G>T (p.Ala1212Ser)
n.2315G>T
9g.133456146_133456147delinsGCCA1882682458ADAMTS13c.3478_3479delinsGC (p.Ala1160=)
c.3385_3386delinsGC (p.Ala1129=)
c.34_35delinsGC (p.Ala12=)
c.*947_*948delinsGC (n.*947_*948delinsGC)
c.3646_3647delinsGC (p.Ala1216=)
n.2294_2295delinsGC
n.2313_2314delinsGC
c.3256_3257delinsGC (p.Ala1086=)
c.*53_*54delinsGC (n.*53_*54delinsGC)
c.2662_2663delinsGC (p.Ala888=)
c.2656_2657delinsGC (p.Ala886=)
c.2311_2312delinsGC (p.Ala771=)
c.1912_1913delinsGC (p.Ala638=)
c.3634_3635delinsGC (p.Ala1212=)
n.2315_2316delinsGC
9g.133456147C>ACA375415205ADAMTS13c.3479C>A (p.Ala1160Asp)
c.3386C>A (p.Ala1129Asp)
c.35C>A (p.Ala12Asp)
c.*948C>A (n.*948C>A)
c.3647C>A (p.Ala1216Asp)
n.2295C>A
n.2314C>A
c.3257C>A (p.Ala1086Asp)
c.*54C>A (n.*54C>A)
c.2663C>A (p.Ala888Asp)
c.2657C>A (p.Ala886Asp)
c.2312C>A (p.Ala771Asp)
c.1913C>A (p.Ala638Asp)
c.3635C>A (p.Ala1212Asp)
n.2316C>A
9g.133456147C>GCA375415208ADAMTS13c.3479C>G (p.Ala1160Gly)
c.3386C>G (p.Ala1129Gly)
c.35C>G (p.Ala12Gly)
c.*948C>G (n.*948C>G)
c.3647C>G (p.Ala1216Gly)
n.2295C>G
n.2314C>G
c.3257C>G (p.Ala1086Gly)
c.*54C>G (n.*54C>G)
c.2663C>G (p.Ala888Gly)
c.2657C>G (p.Ala886Gly)
c.2312C>G (p.Ala771Gly)
c.1913C>G (p.Ala638Gly)
c.3635C>G (p.Ala1212Gly)
n.2316C>G
9g.133456147C>TCA375415209ADAMTS13c.3479C>T (p.Ala1160Val)
c.3386C>T (p.Ala1129Val)
c.35C>T (p.Ala12Val)
c.*948C>T (n.*948C>T)
c.3647C>T (p.Ala1216Val)
n.2295C>T
n.2314C>T
c.3257C>T (p.Ala1086Val)
c.*54C>T (n.*54C>T)
c.2663C>T (p.Ala888Val)
c.2657C>T (p.Ala886Val)
c.2312C>T (p.Ala771Val)
c.1913C>T (p.Ala638Val)
c.3635C>T (p.Ala1212Val)
n.2316C>T
9g.133456148delCA200944770ADAMTS13c.3480del (p.Ile1161LeufsTer9)
c.3387del (p.Ile1130LeufsTer9)
c.36del (p.Ile13LeufsTer9)
c.*949del (n.*949del)
c.3648del (p.Ile1217LeufsTer9)
n.2296del
n.2315del
c.3258del (p.Ile1087LeufsTer9)
c.*55del (n.*55del)
c.2664del (p.Ile889LeufsTer9)
c.2658del (p.Ile887LeufsTer9)
c.2313del (p.Ile772LeufsTer9)
c.1914del (p.Ile639LeufsTer9)
c.3636del (p.Ile1213LeufsTer9)
n.2317del
 dbSNP gnomAD v4
9g.133456148C>TCA2786169921ADAMTS13c.3480C>T (p.Ala1160=)
c.3387C>T (p.Ala1129=)
c.36C>T (p.Ala12=)
c.*949C>T (n.*949C>T)
c.3648C>T (p.Ala1216=)
n.2296C>T
n.2315C>T
c.3258C>T (p.Ala1086=)
c.*55C>T (n.*55C>T)
c.2664C>T (p.Ala888=)
c.2658C>T (p.Ala886=)
c.2313C>T (p.Ala771=)
c.1914C>T (p.Ala638=)
c.3636C>T (p.Ala1212=)
n.2317C>T
9g.133456149A>CCA375415210ADAMTS13c.3481A>C (p.Ile1161Leu)
c.3388A>C (p.Ile1130Leu)
c.37A>C (p.Ile13Leu)
c.*950A>C (n.*950A>C)
c.3649A>C (p.Ile1217Leu)
n.2297A>C
n.2316A>C
c.3259A>C (p.Ile1087Leu)
c.*56A>C (n.*56A>C)
c.2665A>C (p.Ile889Leu)
c.2659A>C (p.Ile887Leu)
c.2314A>C (p.Ile772Leu)
c.1915A>C (p.Ile639Leu)
c.3637A>C (p.Ile1213Leu)
n.2318A>C
9g.133456149A>GCA375415211ADAMTS13c.3481A>G (p.Ile1161Val)
c.3388A>G (p.Ile1130Val)
c.37A>G (p.Ile13Val)
c.*950A>G (n.*950A>G)
c.3649A>G (p.Ile1217Val)
n.2297A>G
n.2316A>G
c.3259A>G (p.Ile1087Val)
c.*56A>G (n.*56A>G)
c.2665A>G (p.Ile889Val)
c.2659A>G (p.Ile887Val)
c.2314A>G (p.Ile772Val)
c.1915A>G (p.Ile639Val)
c.3637A>G (p.Ile1213Val)
n.2318A>G
 gnomAD v4
9g.133456149A>TCA375415213ADAMTS13c.3481A>T (p.Ile1161Phe)
c.3388A>T (p.Ile1130Phe)
c.37A>T (p.Ile13Phe)
c.*950A>T (n.*950A>T)
c.3649A>T (p.Ile1217Phe)
n.2297A>T
n.2316A>T
c.3259A>T (p.Ile1087Phe)
c.*56A>T (n.*56A>T)
c.2665A>T (p.Ile889Phe)
c.2659A>T (p.Ile887Phe)
c.2314A>T (p.Ile772Phe)
c.1915A>T (p.Ile639Phe)
c.3637A>T (p.Ile1213Phe)
n.2318A>T
9g.133456150T>ACA375415216ADAMTS13c.3482T>A (p.Ile1161Asn)
c.3389T>A (p.Ile1130Asn)
c.38T>A (p.Ile13Asn)
c.*951T>A (n.*951T>A)
c.3650T>A (p.Ile1217Asn)
n.2298T>A
n.2317T>A
c.3260T>A (p.Ile1087Asn)
c.*57T>A (n.*57T>A)
c.2666T>A (p.Ile889Asn)
c.2660T>A (p.Ile887Asn)
c.2315T>A (p.Ile772Asn)
c.1916T>A (p.Ile639Asn)
c.3638T>A (p.Ile1213Asn)
n.2319T>A
9g.133456150T>CCA200944792ADAMTS13c.3482T>C (p.Ile1161Thr)
c.3389T>C (p.Ile1130Thr)
c.38T>C (p.Ile13Thr)
c.*951T>C (n.*951T>C)
c.3650T>C (p.Ile1217Thr)
n.2298T>C
n.2317T>C
c.3260T>C (p.Ile1087Thr)
c.*57T>C (n.*57T>C)
c.2666T>C (p.Ile889Thr)
c.2660T>C (p.Ile887Thr)
c.2315T>C (p.Ile772Thr)
c.1916T>C (p.Ile639Thr)
c.3638T>C (p.Ile1213Thr)
n.2319T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456150T>GCA375415223ADAMTS13c.3482T>G (p.Ile1161Ser)
c.3389T>G (p.Ile1130Ser)
c.38T>G (p.Ile13Ser)
c.*951T>G (n.*951T>G)
c.3650T>G (p.Ile1217Ser)
n.2298T>G
n.2317T>G
c.3260T>G (p.Ile1087Ser)
c.*57T>G (n.*57T>G)
c.2666T>G (p.Ile889Ser)
c.2660T>G (p.Ile887Ser)
c.2315T>G (p.Ile772Ser)
c.1916T>G (p.Ile639Ser)
c.3638T>G (p.Ile1213Ser)
n.2319T>G
9g.133456150T=CA1882682459ADAMTS13c.3482T= (p.Ile1161=)
c.3389T= (p.Ile1130=)
c.38T= (p.Ile13=)
c.*951T= (n.*951T=)
c.3650T= (p.Ile1217=)
n.2298T=
n.2317T=
c.3260T= (p.Ile1087=)
c.*57T= (n.*57T=)
c.2666T= (p.Ile889=)
c.2660T= (p.Ile887=)
c.2315T= (p.Ile772=)
c.1916T= (p.Ile639=)
c.3638T= (p.Ile1213=)
n.2319T=
9g.133456151T>CCA10632761ADAMTS13c.3483T>C (p.Ile1161=)
c.3390T>C (p.Ile1130=)
c.39T>C (p.Ile13=)
c.*952T>C (n.*952T>C)
c.3651T>C (p.Ile1217=)
n.2299T>C
n.2318T>C
c.3261T>C (p.Ile1087=)
c.*58T>C (n.*58T>C)
c.2667T>C (p.Ile889=)
c.2661T>C (p.Ile887=)
c.2316T>C (p.Ile772=)
c.1917T>C (p.Ile639=)
c.3639T>C (p.Ile1213=)
n.2320T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.133456151T>GCA375415228ADAMTS13c.3483T>G (p.Ile1161Met)
c.3390T>G (p.Ile1130Met)
c.39T>G (p.Ile13Met)
c.*952T>G (n.*952T>G)
c.3651T>G (p.Ile1217Met)
n.2299T>G
n.2318T>G
c.3261T>G (p.Ile1087Met)
c.*58T>G (n.*58T>G)
c.2667T>G (p.Ile889Met)
c.2661T>G (p.Ile887Met)
c.2316T>G (p.Ile772Met)
c.1917T>G (p.Ile639Met)
c.3639T>G (p.Ile1213Met)
n.2320T>G
9g.133456151T=CA1882682460ADAMTS13c.3483T= (p.Ile1161=)
c.3390T= (p.Ile1130=)
c.39T= (p.Ile13=)
c.*952T= (n.*952T=)
c.3651T= (p.Ile1217=)
n.2299T=
n.2318T=
c.3261T= (p.Ile1087=)
c.*58T= (n.*58T=)
c.2667T= (p.Ile889=)
c.2661T= (p.Ile887=)
c.2316T= (p.Ile772=)
c.1917T= (p.Ile639=)
c.3639T= (p.Ile1213=)
n.2320T=
9g.133456152G>ACA375415236ADAMTS13c.3484G>A (p.Gly1162Arg)
c.3391G>A (p.Gly1131Arg)
c.40G>A (p.Gly14Arg)
c.*953G>A (n.*953G>A)
c.3652G>A (p.Gly1218Arg)
n.2300G>A
n.2319G>A
c.3262G>A (p.Gly1088Arg)
c.*59G>A (n.*59G>A)
c.2668G>A (p.Gly890Arg)
c.2662G>A (p.Gly888Arg)
c.2317G>A (p.Gly773Arg)
c.1918G>A (p.Gly640Arg)
c.3640G>A (p.Gly1214Arg)
n.2321G>A
9g.133456152G>CCA375415241ADAMTS13c.3484G>C (p.Gly1162Arg)
c.3391G>C (p.Gly1131Arg)
c.40G>C (p.Gly14Arg)
c.*953G>C (n.*953G>C)
c.3652G>C (p.Gly1218Arg)
n.2300G>C
n.2319G>C
c.3262G>C (p.Gly1088Arg)
c.*59G>C (n.*59G>C)
c.2668G>C (p.Gly890Arg)
c.2662G>C (p.Gly888Arg)
c.2317G>C (p.Gly773Arg)
c.1918G>C (p.Gly640Arg)
c.3640G>C (p.Gly1214Arg)
n.2321G>C
9g.133456152G>TCA375415244ADAMTS13c.3484G>T (p.Gly1162Trp)
c.3391G>T (p.Gly1131Trp)
c.40G>T (p.Gly14Trp)
c.*953G>T (n.*953G>T)
c.3652G>T (p.Gly1218Trp)
n.2300G>T
n.2319G>T
c.3262G>T (p.Gly1088Trp)
c.*59G>T (n.*59G>T)
c.2668G>T (p.Gly890Trp)
c.2662G>T (p.Gly888Trp)
c.2317G>T (p.Gly773Trp)
c.1918G>T (p.Gly640Trp)
c.3640G>T (p.Gly1214Trp)
n.2321G>T
9g.133456154dupCA2841849345ADAMTS13c.3486dup (p.Arg1163AlafsTer13)
c.3393dup (p.Arg1132AlafsTer13)
c.42dup (p.Arg15AlafsTer13)
c.*955dup (n.*955dup)
c.3654dup (p.Arg1219AlafsTer13)
n.2302dup
n.2321dup
c.3264dup (p.Arg1089AlafsTer13)
c.*61dup (n.*61dup)
c.2670dup (p.Arg891AlafsTer13)
c.2664dup (p.Arg889AlafsTer13)
c.2319dup (p.Arg774AlafsTer13)
c.1920dup (p.Arg641AlafsTer13)
c.3642dup (p.Arg1215AlafsTer13)
n.2323dup
9g.133456153G>ACA375415248ADAMTS13c.3485G>A (p.Gly1162Glu)
c.3392G>A (p.Gly1131Glu)
c.41G>A (p.Gly14Glu)
c.*954G>A (n.*954G>A)
c.3653G>A (p.Gly1218Glu)
n.2301G>A
n.2320G>A
c.3263G>A (p.Gly1088Glu)
c.*60G>A (n.*60G>A)
c.2669G>A (p.Gly890Glu)
c.2663G>A (p.Gly888Glu)
c.2318G>A (p.Gly773Glu)
c.1919G>A (p.Gly640Glu)
c.3641G>A (p.Gly1214Glu)
n.2322G>A
 COSMIC
9g.133456153G>CCA375415253ADAMTS13c.3485G>C (p.Gly1162Ala)
c.3392G>C (p.Gly1131Ala)
c.41G>C (p.Gly14Ala)
c.*954G>C (n.*954G>C)
c.3653G>C (p.Gly1218Ala)
n.2301G>C
n.2320G>C
c.3263G>C (p.Gly1088Ala)
c.*60G>C (n.*60G>C)
c.2669G>C (p.Gly890Ala)
c.2663G>C (p.Gly888Ala)
c.2318G>C (p.Gly773Ala)
c.1919G>C (p.Gly640Ala)
c.3641G>C (p.Gly1214Ala)
n.2322G>C
9g.133456153G>TCA375415256ADAMTS13c.3485G>T (p.Gly1162Val)
c.3392G>T (p.Gly1131Val)
c.41G>T (p.Gly14Val)
c.*954G>T (n.*954G>T)
c.3653G>T (p.Gly1218Val)
n.2301G>T
n.2320G>T
c.3263G>T (p.Gly1088Val)
c.*60G>T (n.*60G>T)
c.2669G>T (p.Gly890Val)
c.2663G>T (p.Gly888Val)
c.2318G>T (p.Gly773Val)
c.1919G>T (p.Gly640Val)
c.3641G>T (p.Gly1214Val)
n.2322G>T
 gnomAD v4
9g.133456155C=CA1882682461ADAMTS13c.3487C= (p.Arg1163=)
c.3394C= (p.Arg1132=)
c.43C= (p.Arg15=)
c.*956C= (n.*956C=)
c.3655C= (p.Arg1219=)
n.2303C=
n.2322C=
c.3265C= (p.Arg1089=)
c.*62C= (n.*62C=)
c.2671C= (p.Arg891=)
c.2665C= (p.Arg889=)
c.2320C= (p.Arg774=)
c.1921C= (p.Arg641=)
c.3643C= (p.Arg1215=)
n.2324C=
9g.133456155C>GCA375415262ADAMTS13c.3487C>G (p.Arg1163Gly)
c.3394C>G (p.Arg1132Gly)
c.43C>G (p.Arg15Gly)
c.*956C>G (n.*956C>G)
c.3655C>G (p.Arg1219Gly)
n.2303C>G
n.2322C>G
c.3265C>G (p.Arg1089Gly)
c.*62C>G (n.*62C>G)
c.2671C>G (p.Arg891Gly)
c.2665C>G (p.Arg889Gly)
c.2320C>G (p.Arg774Gly)
c.1921C>G (p.Arg641Gly)
c.3643C>G (p.Arg1215Gly)
n.2324C>G
9g.133456155C>TCA220031ADAMTS13c.3487C>T (p.Arg1163Trp)
c.3394C>T (p.Arg1132Trp)
c.43C>T (p.Arg15Trp)
c.*956C>T (n.*956C>T)
c.3655C>T (p.Arg1219Trp)
n.2303C>T
n.2322C>T
c.3265C>T (p.Arg1089Trp)
c.*62C>T (n.*62C>T)
c.2671C>T (p.Arg891Trp)
c.2665C>T (p.Arg889Trp)
c.2320C>T (p.Arg774Trp)
c.1921C>T (p.Arg641Trp)
c.3643C>T (p.Arg1215Trp)
n.2324C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.133456156G>ACA200944824ADAMTS13c.3488G>A (p.Arg1163Gln)
c.3395G>A (p.Arg1132Gln)
c.44G>A (p.Arg15Gln)
c.*957G>A (n.*957G>A)
c.3656G>A (p.Arg1219Gln)
n.2304G>A
n.2323G>A
c.3266G>A (p.Arg1089Gln)
c.*63G>A (n.*63G>A)
c.2672G>A (p.Arg891Gln)
c.2666G>A (p.Arg889Gln)
c.2321G>A (p.Arg774Gln)
c.1922G>A (p.Arg641Gln)
c.3644G>A (p.Arg1215Gln)
n.2325G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.133456156G>CCA375415268ADAMTS13c.3488G>C (p.Arg1163Pro)
c.3395G>C (p.Arg1132Pro)
c.44G>C (p.Arg15Pro)
c.*957G>C (n.*957G>C)
c.3656G>C (p.Arg1219Pro)
n.2304G>C
n.2323G>C
c.3266G>C (p.Arg1089Pro)
c.*63G>C (n.*63G>C)
c.2672G>C (p.Arg891Pro)
c.2666G>C (p.Arg889Pro)
c.2321G>C (p.Arg774Pro)
c.1922G>C (p.Arg641Pro)
c.3644G>C (p.Arg1215Pro)
n.2325G>C
9g.133456156G=CA1882682462ADAMTS13c.3488G= (p.Arg1163=)
c.3395G= (p.Arg1132=)
c.44G= (p.Arg15=)
c.*957G= (n.*957G=)
c.3656G= (p.Arg1219=)
n.2304G=
n.2323G=
c.3266G= (p.Arg1089=)
c.*63G= (n.*63G=)
c.2672G= (p.Arg891=)
c.2666G= (p.Arg889=)
c.2321G= (p.Arg774=)
c.1922G= (p.Arg641=)
c.3644G= (p.Arg1215=)
n.2325G=
9g.133456156G>TCA375415271ADAMTS13c.3488G>T (p.Arg1163Leu)
c.3395G>T (p.Arg1132Leu)
c.44G>T (p.Arg15Leu)
c.*957G>T (n.*957G>T)
c.3656G>T (p.Arg1219Leu)
n.2304G>T
n.2323G>T
c.3266G>T (p.Arg1089Leu)
c.*63G>T (n.*63G>T)
c.2672G>T (p.Arg891Leu)
c.2666G>T (p.Arg889Leu)
c.2321G>T (p.Arg774Leu)
c.1922G>T (p.Arg641Leu)
c.3644G>T (p.Arg1215Leu)
n.2325G>T
9g.133456157G>TCA2692366041ADAMTS13c.3489G>T (p.Arg1163=)
c.3396G>T (p.Arg1132=)
c.45G>T (p.Arg15=)
c.*958G>T (n.*958G>T)
c.3657G>T (p.Arg1219=)
n.2305G>T
n.2324G>T
c.3267G>T (p.Arg1089=)
c.*64G>T (n.*64G>T)
c.2673G>T (p.Arg891=)
c.2667G>T (p.Arg889=)
c.2322G>T (p.Arg774=)
c.1923G>T (p.Arg641=)
c.3645G>T (p.Arg1215=)
n.2326G>T
 gnomAD v4
9g.133456157_133456158insTCA2695211629ADAMTS13c.3489_3490insT (p.Pro1164SerfsTer12)
c.3396_3397insT (p.Pro1133SerfsTer12)
c.45_46insT (p.Pro16SerfsTer12)
c.*958_*959insT (n.*958_*959insT)
c.3657_3658insT (p.Pro1220SerfsTer12)
n.2305_2306insT
n.2324_2325insT
c.3267_3268insT (p.Pro1090SerfsTer12)
c.*64_*65insT (n.*64_*65insT)
c.2673_2674insT (p.Pro892SerfsTer12)
c.2667_2668insT (p.Pro890SerfsTer12)
c.2322_2323insT (p.Pro775SerfsTer12)
c.1923_1924insT (p.Pro642SerfsTer12)
c.3645_3646insT (p.Pro1216SerfsTer12)
n.2326_2327insT
9g.133456158C>ACA375415276ADAMTS13c.3490C>A (p.Pro1164Thr)
c.3397C>A (p.Pro1133Thr)
c.46C>A (p.Pro16Thr)
c.*959C>A (n.*959C>A)
c.3658C>A (p.Pro1220Thr)
n.2306C>A
n.2325C>A
c.3268C>A (p.Pro1090Thr)
c.*65C>A (n.*65C>A)
c.2674C>A (p.Pro892Thr)
c.2668C>A (p.Pro890Thr)
c.2323C>A (p.Pro775Thr)
c.1924C>A (p.Pro642Thr)
c.3646C>A (p.Pro1216Thr)
n.2327C>A
9g.133456158C>GCA375415279ADAMTS13c.3490C>G (p.Pro1164Ala)
c.3397C>G (p.Pro1133Ala)
c.46C>G (p.Pro16Ala)
c.*959C>G (n.*959C>G)
c.3658C>G (p.Pro1220Ala)
n.2306C>G
n.2325C>G
c.3268C>G (p.Pro1090Ala)
c.*65C>G (n.*65C>G)
c.2674C>G (p.Pro892Ala)
c.2668C>G (p.Pro890Ala)
c.2323C>G (p.Pro775Ala)
c.1924C>G (p.Pro642Ala)
c.3646C>G (p.Pro1216Ala)
n.2327C>G
9g.133456158C>TCA375415281ADAMTS13c.3490C>T (p.Pro1164Ser)
c.3397C>T (p.Pro1133Ser)
c.46C>T (p.Pro16Ser)
c.*959C>T (n.*959C>T)
c.3658C>T (p.Pro1220Ser)
n.2306C>T
n.2325C>T
c.3268C>T (p.Pro1090Ser)
c.*65C>T (n.*65C>T)
c.2674C>T (p.Pro892Ser)
c.2668C>T (p.Pro890Ser)
c.2323C>T (p.Pro775Ser)
c.1924C>T (p.Pro642Ser)
c.3646C>T (p.Pro1216Ser)
n.2327C>T
 COSMIC
9g.133456159C>ACA375415290ADAMTS13c.3491C>A (p.Pro1164His)
c.3398C>A (p.Pro1133His)
c.47C>A (p.Pro16His)
c.*960C>A (n.*960C>A)
c.3659C>A (p.Pro1220His)
n.2307C>A
n.2326C>A
c.3269C>A (p.Pro1090His)
c.*66C>A (n.*66C>A)
c.2675C>A (p.Pro892His)
c.2669C>A (p.Pro890His)
c.2324C>A (p.Pro775His)
c.1925C>A (p.Pro642His)
c.3647C>A (p.Pro1216His)
n.2328C>A
9g.133456159C>GCA375415285ADAMTS13c.3491C>G (p.Pro1164Arg)
c.3398C>G (p.Pro1133Arg)
c.47C>G (p.Pro16Arg)
c.*960C>G (n.*960C>G)
c.3659C>G (p.Pro1220Arg)
n.2307C>G
n.2326C>G
c.3269C>G (p.Pro1090Arg)
c.*66C>G (n.*66C>G)
c.2675C>G (p.Pro892Arg)
c.2669C>G (p.Pro890Arg)
c.2324C>G (p.Pro775Arg)
c.1925C>G (p.Pro642Arg)
c.3647C>G (p.Pro1216Arg)
n.2328C>G
9g.133456159C>TCA375415288ADAMTS13c.3491C>T (p.Pro1164Leu)
c.3398C>T (p.Pro1133Leu)
c.47C>T (p.Pro16Leu)
c.*960C>T (n.*960C>T)
c.3659C>T (p.Pro1220Leu)
n.2307C>T
n.2326C>T
c.3269C>T (p.Pro1090Leu)
c.*66C>T (n.*66C>T)
c.2675C>T (p.Pro892Leu)
c.2669C>T (p.Pro890Leu)
c.2324C>T (p.Pro775Leu)
c.1925C>T (p.Pro642Leu)
c.3647C>T (p.Pro1216Leu)
n.2328C>T
9g.133456160C>ACA2841849346ADAMTS13c.3492C>A (p.Pro1164=)
c.3399C>A (p.Pro1133=)
c.48C>A (p.Pro16=)
c.*961C>A (n.*961C>A)
c.3660C>A (p.Pro1220=)
n.2308C>A
n.2327C>A
c.3270C>A (p.Pro1090=)
c.*67C>A (n.*67C>A)
c.2676C>A (p.Pro892=)
c.2670C>A (p.Pro890=)
c.2325C>A (p.Pro775=)
c.1926C>A (p.Pro642=)
c.3648C>A (p.Pro1216=)
n.2329C>A
9g.133456160C=CA1882682463ADAMTS13c.3492C= (p.Pro1164=)
c.3399C= (p.Pro1133=)
c.48C= (p.Pro16=)
c.*961C= (n.*961C=)
c.3660C= (p.Pro1220=)
n.2308C=
n.2327C=
c.3270C= (p.Pro1090=)
c.*67C= (n.*67C=)
c.2676C= (p.Pro892=)
c.2670C= (p.Pro890=)
c.2325C= (p.Pro775=)
c.1926C= (p.Pro642=)
c.3648C= (p.Pro1216=)
n.2329C=
9g.133456160C>TCA1882682464ADAMTS13c.3492C>T (p.Pro1164=)
c.3399C>T (p.Pro1133=)
c.48C>T (p.Pro16=)
c.*961C>T (n.*961C>T)
c.3660C>T (p.Pro1220=)
n.2308C>T
n.2327C>T
c.3270C>T (p.Pro1090=)
c.*67C>T (n.*67C>T)
c.2676C>T (p.Pro892=)
c.2670C>T (p.Pro890=)
c.2325C>T (p.Pro775=)
c.1926C>T (p.Pro642=)
c.3648C>T (p.Pro1216=)
n.2329C>T
 dbSNP
9g.133456161C>ACA375415294ADAMTS13c.3493C>A (p.Leu1165Ile)
c.3400C>A (p.Leu1134Ile)
c.49C>A (p.Leu17Ile)
c.*962C>A (n.*962C>A)
c.3661C>A (p.Leu1221Ile)
n.2309C>A
n.2328C>A
c.3271C>A (p.Leu1091Ile)
c.*68C>A (n.*68C>A)
c.2677C>A (p.Leu893Ile)
c.2671C>A (p.Leu891Ile)
c.2326C>A (p.Leu776Ile)
c.1927C>A (p.Leu643Ile)
c.3649C>A (p.Leu1217Ile)
n.2330C>A
9g.133456161C>GCA375415298ADAMTS13c.3493C>G (p.Leu1165Val)
c.3400C>G (p.Leu1134Val)
c.49C>G (p.Leu17Val)
c.*962C>G (n.*962C>G)
c.3661C>G (p.Leu1221Val)
n.2309C>G
n.2328C>G
c.3271C>G (p.Leu1091Val)
c.*68C>G (n.*68C>G)
c.2677C>G (p.Leu893Val)
c.2671C>G (p.Leu891Val)
c.2326C>G (p.Leu776Val)
c.1927C>G (p.Leu643Val)
c.3649C>G (p.Leu1217Val)
n.2330C>G
9g.133456161C>TCA375415300ADAMTS13c.3493C>T (p.Leu1165Phe)
c.3400C>T (p.Leu1134Phe)
c.49C>T (p.Leu17Phe)
c.*962C>T (n.*962C>T)
c.3661C>T (p.Leu1221Phe)
n.2309C>T
n.2328C>T
c.3271C>T (p.Leu1091Phe)
c.*68C>T (n.*68C>T)
c.2677C>T (p.Leu893Phe)
c.2671C>T (p.Leu891Phe)
c.2326C>T (p.Leu776Phe)
c.1927C>T (p.Leu643Phe)
c.3649C>T (p.Leu1217Phe)
n.2330C>T
 gnomAD v4

Number of alleles fetched