Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.66211106A>GCA2614443908PACS1c.535-28A>G (n.535-28A>G)
n.659-28A>G
c.241-28A>G (n.241-28A>G)
c.226-28A>G (n.226-28A>G)
c.214-28A>G (n.214-28A>G)
c.205-28A>G (n.205-28A>G)
c.196-28A>G (n.196-28A>G)
n.746-28A>G
 gnomAD v4
11g.66211107C=CA1979579241PACS1c.535-27C= (n.535-27C=)
n.659-27C=
c.241-27C= (n.241-27C=)
c.226-27C= (n.226-27C=)
c.214-27C= (n.214-27C=)
c.205-27C= (n.205-27C=)
c.196-27C= (n.196-27C=)
n.746-27C=
11g.66211107C>TCA6116280PACS1c.535-27C>T (n.535-27C>T)
n.659-27C>T
c.241-27C>T (n.241-27C>T)
c.226-27C>T (n.226-27C>T)
c.214-27C>T (n.214-27C>T)
c.205-27C>T (n.205-27C>T)
c.196-27C>T (n.196-27C>T)
n.746-27C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211108G>ACA6116281PACS1c.535-26G>A (n.535-26G>A)
n.659-26G>A
c.241-26G>A (n.241-26G>A)
c.226-26G>A (n.226-26G>A)
c.214-26G>A (n.214-26G>A)
c.205-26G>A (n.205-26G>A)
c.196-26G>A (n.196-26G>A)
n.746-26G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211108G=CA1979579245PACS1c.535-26G= (n.535-26G=)
n.659-26G=
c.241-26G= (n.241-26G=)
c.226-26G= (n.226-26G=)
c.214-26G= (n.214-26G=)
c.205-26G= (n.205-26G=)
c.196-26G= (n.196-26G=)
n.746-26G=
11g.66211108G>TCA1979579247PACS1c.535-26G>T (n.535-26G>T)
n.659-26G>T
c.241-26G>T (n.241-26G>T)
c.226-26G>T (n.226-26G>T)
c.214-26G>T (n.214-26G>T)
c.205-26G>T (n.205-26G>T)
c.196-26G>T (n.196-26G>T)
n.746-26G>T
 dbSNP
11g.66211109C=CA1979579248PACS1c.535-25C= (n.535-25C=)
n.659-25C=
c.241-25C= (n.241-25C=)
c.226-25C= (n.226-25C=)
c.214-25C= (n.214-25C=)
c.205-25C= (n.205-25C=)
c.196-25C= (n.196-25C=)
n.746-25C=
11g.66211109C>GCA2614443909PACS1c.535-25C>G (n.535-25C>G)
n.659-25C>G
c.241-25C>G (n.241-25C>G)
c.226-25C>G (n.226-25C>G)
c.214-25C>G (n.214-25C>G)
c.205-25C>G (n.205-25C>G)
c.196-25C>G (n.196-25C>G)
n.746-25C>G
 gnomAD v4
11g.66211109C>TCA679383045PACS1c.535-25C>T (n.535-25C>T)
n.659-25C>T
c.241-25C>T (n.241-25C>T)
c.226-25C>T (n.226-25C>T)
c.214-25C>T (n.214-25C>T)
c.205-25C>T (n.205-25C>T)
c.196-25C>T (n.196-25C>T)
n.746-25C>T
 dbSNP gnomAD v3 gnomAD v4
11g.66211110T>CCA2574883591PACS1c.535-24T>C (n.535-24T>C)
n.659-24T>C
c.241-24T>C (n.241-24T>C)
c.226-24T>C (n.226-24T>C)
c.214-24T>C (n.214-24T>C)
c.205-24T>C (n.205-24T>C)
c.196-24T>C (n.196-24T>C)
n.746-24T>C
11g.66211111C=CA1979579250PACS1c.535-23C= (n.535-23C=)
n.659-23C=
c.241-23C= (n.241-23C=)
c.226-23C= (n.226-23C=)
c.214-23C= (n.214-23C=)
c.205-23C= (n.205-23C=)
c.196-23C= (n.196-23C=)
n.746-23C=
11g.66211111C>GCA6116283PACS1c.535-23C>G (n.535-23C>G)
n.659-23C>G
c.241-23C>G (n.241-23C>G)
c.226-23C>G (n.226-23C>G)
c.214-23C>G (n.214-23C>G)
c.205-23C>G (n.205-23C>G)
c.196-23C>G (n.196-23C>G)
n.746-23C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211111C>TCA6116282PACS1c.535-23C>T (n.535-23C>T)
n.659-23C>T
c.241-23C>T (n.241-23C>T)
c.226-23C>T (n.226-23C>T)
c.214-23C>T (n.214-23C>T)
c.205-23C>T (n.205-23C>T)
c.196-23C>T (n.196-23C>T)
n.746-23C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211112G>ACA599856226PACS1c.535-22G>A (n.535-22G>A)
n.659-22G>A
c.241-22G>A (n.241-22G>A)
c.226-22G>A (n.226-22G>A)
c.214-22G>A (n.214-22G>A)
c.205-22G>A (n.205-22G>A)
c.196-22G>A (n.196-22G>A)
n.746-22G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66211112G=CA1979579254PACS1c.535-22G= (n.535-22G=)
n.659-22G=
c.241-22G= (n.241-22G=)
c.226-22G= (n.226-22G=)
c.214-22G= (n.214-22G=)
c.205-22G= (n.205-22G=)
c.196-22G= (n.196-22G=)
n.746-22G=
11g.66211112G>TCA2614443910PACS1c.535-22G>T (n.535-22G>T)
n.659-22G>T
c.241-22G>T (n.241-22G>T)
c.226-22G>T (n.226-22G>T)
c.214-22G>T (n.214-22G>T)
c.205-22G>T (n.205-22G>T)
c.196-22G>T (n.196-22G>T)
n.746-22G>T
 gnomAD v4
11g.66211114C>TCA2614443912PACS1c.535-20C>T (n.535-20C>T)
n.659-20C>T
c.241-20C>T (n.241-20C>T)
c.226-20C>T (n.226-20C>T)
c.214-20C>T (n.214-20C>T)
c.205-20C>T (n.205-20C>T)
c.196-20C>T (n.196-20C>T)
n.746-20C>T
 gnomAD v4
11g.66211116_66211117delCA2614443911PACS1c.535-18_535-17del (n.535-18_535-17del)
n.659-18_659-17del
c.241-18_241-17del (n.241-18_241-17del)
c.226-18_226-17del (n.226-18_226-17del)
c.214-18_214-17del (n.214-18_214-17del)
c.205-18_205-17del (n.205-18_205-17del)
c.196-18_196-17del (n.196-18_196-17del)
n.746-18_746-17del
 gnomAD v4
11g.66211115T>ACA679383050PACS1c.535-19T>A (n.535-19T>A)
n.659-19T>A
c.241-19T>A (n.241-19T>A)
c.226-19T>A (n.226-19T>A)
c.214-19T>A (n.214-19T>A)
c.205-19T>A (n.205-19T>A)
c.196-19T>A (n.196-19T>A)
n.746-19T>A
 dbSNP gnomAD v3 gnomAD v4
11g.66211115T=CA1979579256PACS1c.535-19T= (n.535-19T=)
n.659-19T=
c.241-19T= (n.241-19T=)
c.226-19T= (n.226-19T=)
c.214-19T= (n.214-19T=)
c.205-19T= (n.205-19T=)
c.196-19T= (n.196-19T=)
n.746-19T=
11g.66211116C>ACA2614443913PACS1c.535-18C>A (n.535-18C>A)
n.659-18C>A
c.241-18C>A (n.241-18C>A)
c.226-18C>A (n.226-18C>A)
c.214-18C>A (n.214-18C>A)
c.205-18C>A (n.205-18C>A)
c.196-18C>A (n.196-18C>A)
n.746-18C>A
 gnomAD v4
11g.66211116C=CA1979579259PACS1c.535-18C= (n.535-18C=)
n.659-18C=
c.241-18C= (n.241-18C=)
c.226-18C= (n.226-18C=)
c.214-18C= (n.214-18C=)
c.205-18C= (n.205-18C=)
c.196-18C= (n.196-18C=)
n.746-18C=
11g.66211116C>GCA6116284PACS1c.535-18C>G (n.535-18C>G)
n.659-18C>G
c.241-18C>G (n.241-18C>G)
c.226-18C>G (n.226-18C>G)
c.214-18C>G (n.214-18C>G)
c.205-18C>G (n.205-18C>G)
c.196-18C>G (n.196-18C>G)
n.746-18C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.66211116_66211118delinsCTGCA1979579260PACS1c.535-18_535-16delinsCTG (n.535-18_535-16delinsCTG)
n.659-18_659-16delinsCTG
c.241-18_241-16delinsCTG (n.241-18_241-16delinsCTG)
c.226-18_226-16delinsCTG (n.226-18_226-16delinsCTG)
c.214-18_214-16delinsCTG (n.214-18_214-16delinsCTG)
c.205-18_205-16delinsCTG (n.205-18_205-16delinsCTG)
c.196-18_196-16delinsCTG (n.196-18_196-16delinsCTG)
n.746-18_746-16delinsCTG
11g.66211118_66211119delCA599856228PACS1c.535-16_535-15del (n.535-16_535-15del)
n.659-16_659-15del
c.241-16_241-15del (n.241-16_241-15del)
c.226-16_226-15del (n.226-16_226-15del)
c.214-16_214-15del (n.214-16_214-15del)
c.205-16_205-15del (n.205-16_205-15del)
c.196-16_196-15del (n.196-16_196-15del)
n.746-16_746-15del
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.66211118G>ACA2614443914PACS1c.535-16G>A (n.535-16G>A)
n.659-16G>A
c.241-16G>A (n.241-16G>A)
c.226-16G>A (n.226-16G>A)
c.214-16G>A (n.214-16G>A)
c.205-16G>A (n.205-16G>A)
c.196-16G>A (n.196-16G>A)
n.746-16G>A
 gnomAD v4
11g.66211121T>CCA2614443915PACS1c.535-13T>C (n.535-13T>C)
n.659-13T>C
c.241-13T>C (n.241-13T>C)
c.226-13T>C (n.226-13T>C)
c.214-13T>C (n.214-13T>C)
c.205-13T>C (n.205-13T>C)
c.196-13T>C (n.196-13T>C)
n.746-13T>C
 gnomAD v4
11g.66211122T>CCA2614443916PACS1c.535-12T>C (n.535-12T>C)
n.659-12T>C
c.241-12T>C (n.241-12T>C)
c.226-12T>C (n.226-12T>C)
c.214-12T>C (n.214-12T>C)
c.205-12T>C (n.205-12T>C)
c.196-12T>C (n.196-12T>C)
n.746-12T>C
 gnomAD v4
11g.66211123G>CCA938967468PACS1c.535-11G>C (n.535-11G>C)
n.659-11G>C
c.241-11G>C (n.241-11G>C)
c.226-11G>C (n.226-11G>C)
c.214-11G>C (n.214-11G>C)
c.205-11G>C (n.205-11G>C)
c.196-11G>C (n.196-11G>C)
n.746-11G>C
 dbSNP gnomAD v3 gnomAD v4
11g.66211123G=CA1979579267PACS1c.535-11G= (n.535-11G=)
n.659-11G=
c.241-11G= (n.241-11G=)
c.226-11G= (n.226-11G=)
c.214-11G= (n.214-11G=)
c.205-11G= (n.205-11G=)
c.196-11G= (n.196-11G=)
n.746-11G=
11g.66211123G>TCA6116285PACS1c.535-11G>T (n.535-11G>T)
n.659-11G>T
c.241-11G>T (n.241-11G>T)
c.226-11G>T (n.226-11G>T)
c.214-11G>T (n.214-11G>T)
c.205-11G>T (n.205-11G>T)
c.196-11G>T (n.196-11G>T)
n.746-11G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211124T>CCA224025884PACS1c.535-10T>C (n.535-10T>C)
n.659-10T>C
c.241-10T>C (n.241-10T>C)
c.226-10T>C (n.226-10T>C)
c.214-10T>C (n.214-10T>C)
c.205-10T>C (n.205-10T>C)
c.196-10T>C (n.196-10T>C)
n.746-10T>C
 dbSNP gnomAD v3 gnomAD v4
11g.66211124T=CA1979579269PACS1c.535-10T= (n.535-10T=)
n.659-10T=
c.241-10T= (n.241-10T=)
c.226-10T= (n.226-10T=)
c.214-10T= (n.214-10T=)
c.205-10T= (n.205-10T=)
c.196-10T= (n.196-10T=)
n.746-10T=
11g.66211125A=CA1979579271PACS1c.535-9A= (n.535-9A=)
n.659-9A=
c.241-9A= (n.241-9A=)
c.226-9A= (n.226-9A=)
c.214-9A= (n.214-9A=)
c.205-9A= (n.205-9A=)
c.196-9A= (n.196-9A=)
n.746-9A=
11g.66211125A>GCA679383054PACS1c.535-9A>G (n.535-9A>G)
n.659-9A>G
c.241-9A>G (n.241-9A>G)
c.226-9A>G (n.226-9A>G)
c.214-9A>G (n.214-9A>G)
c.205-9A>G (n.205-9A>G)
c.196-9A>G (n.196-9A>G)
n.746-9A>G
 dbSNP gnomAD v4
11g.66211129C=CA1979579273PACS1c.535-5C= (n.535-5C=)
n.659-5C=
c.241-5C= (n.241-5C=)
c.226-5C= (n.226-5C=)
c.214-5C= (n.214-5C=)
c.205-5C= (n.205-5C=)
c.196-5C= (n.196-5C=)
n.746-5C=
11g.66211129C>TCA6116286PACS1c.535-5C>T (n.535-5C>T)
n.659-5C>T
c.241-5C>T (n.241-5C>T)
c.226-5C>T (n.226-5C>T)
c.214-5C>T (n.214-5C>T)
c.205-5C>T (n.205-5C>T)
c.196-5C>T (n.196-5C>T)
n.746-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211130delCA2614443917PACS1c.535-4del (n.535-4del)
n.659-4del
c.241-4del (n.241-4del)
c.226-4del (n.226-4del)
c.214-4del (n.214-4del)
c.205-4del (n.205-4del)
c.196-4del (n.196-4del)
n.746-4del
 gnomAD v4
11g.66211130G>ACA6116287PACS1c.535-4G>A (n.535-4G>A)
n.659-4G>A
c.241-4G>A (n.241-4G>A)
c.226-4G>A (n.226-4G>A)
c.214-4G>A (n.214-4G>A)
c.205-4G>A (n.205-4G>A)
c.196-4G>A (n.196-4G>A)
n.746-4G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211130G>CCA224025891PACS1c.535-4G>C (n.535-4G>C)
n.659-4G>C
c.241-4G>C (n.241-4G>C)
c.226-4G>C (n.226-4G>C)
c.214-4G>C (n.214-4G>C)
c.205-4G>C (n.205-4G>C)
c.196-4G>C (n.196-4G>C)
n.746-4G>C
 dbSNP
11g.66211130G=CA1979579283PACS1c.535-4G= (n.535-4G=)
n.659-4G=
c.241-4G= (n.241-4G=)
c.226-4G= (n.226-4G=)
c.214-4G= (n.214-4G=)
c.205-4G= (n.205-4G=)
c.196-4G= (n.196-4G=)
n.746-4G=
11g.66211132A>CCA381340987PACS1c.535-2A>C (n.535-2A>C)
n.659-2A>C
c.241-2A>C (n.241-2A>C)
c.226-2A>C (n.226-2A>C)
c.214-2A>C (n.214-2A>C)
c.205-2A>C (n.205-2A>C)
c.196-2A>C (n.196-2A>C)
n.746-2A>C
11g.66211132A>GCA381340989PACS1c.535-2A>G (n.535-2A>G)
n.659-2A>G
c.241-2A>G (n.241-2A>G)
c.226-2A>G (n.226-2A>G)
c.214-2A>G (n.214-2A>G)
c.205-2A>G (n.205-2A>G)
c.196-2A>G (n.196-2A>G)
n.746-2A>G
11g.66211132A>TCA381340991PACS1c.535-2A>T (n.535-2A>T)
n.659-2A>T
c.241-2A>T (n.241-2A>T)
c.226-2A>T (n.226-2A>T)
c.214-2A>T (n.214-2A>T)
c.205-2A>T (n.205-2A>T)
c.196-2A>T (n.196-2A>T)
n.746-2A>T
11g.66211133G>ACA381341009PACS1c.535-1G>A (n.535-1G>A)
n.659-1G>A
c.241-1G>A (n.241-1G>A)
c.226-1G>A (n.226-1G>A)
c.214-1G>A (n.214-1G>A)
c.205-1G>A (n.205-1G>A)
c.196-1G>A (n.196-1G>A)
n.746-1G>A
11g.66211133G>CCA381341033PACS1c.535-1G>C (n.535-1G>C)
n.659-1G>C
c.241-1G>C (n.241-1G>C)
c.226-1G>C (n.226-1G>C)
c.214-1G>C (n.214-1G>C)
c.205-1G>C (n.205-1G>C)
c.196-1G>C (n.196-1G>C)
n.746-1G>C
11g.66211133G>TCA381341022PACS1c.535-1G>T (n.535-1G>T)
n.659-1G>T
c.241-1G>T (n.241-1G>T)
c.226-1G>T (n.226-1G>T)
c.214-1G>T (n.214-1G>T)
c.205-1G>T (n.205-1G>T)
c.196-1G>T (n.196-1G>T)
n.746-1G>T
11g.66211134T>ACA381341037PACS1c.535T>A (p.Tyr179Asn)
n.659T>A
c.241T>A (p.Tyr81Asn)
c.226T>A (p.Tyr76Asn)
c.214T>A (p.Tyr72Asn)
c.205T>A (p.Tyr69Asn)
c.196T>A (p.Tyr66Asn)
n.746T>A
11g.66211134T>CCA381341051PACS1c.535T>C (p.Tyr179His)
n.659T>C
c.241T>C (p.Tyr81His)
c.226T>C (p.Tyr76His)
c.214T>C (p.Tyr72His)
c.205T>C (p.Tyr69His)
c.196T>C (p.Tyr66His)
n.746T>C
 gnomAD v4
11g.66211134T>GCA381341041PACS1c.535T>G (p.Tyr179Asp)
n.659T>G
c.241T>G (p.Tyr81Asp)
c.226T>G (p.Tyr76Asp)
c.214T>G (p.Tyr72Asp)
c.205T>G (p.Tyr69Asp)
c.196T>G (p.Tyr66Asp)
n.746T>G
11g.66211135A>CCA381341061PACS1c.536A>C (p.Tyr179Ser)
n.660A>C
c.242A>C (p.Tyr81Ser)
c.227A>C (p.Tyr76Ser)
c.215A>C (p.Tyr72Ser)
c.206A>C (p.Tyr69Ser)
c.197A>C (p.Tyr66Ser)
n.747A>C
11g.66211135A>GCA381341063PACS1c.536A>G (p.Tyr179Cys)
n.660A>G
c.242A>G (p.Tyr81Cys)
c.227A>G (p.Tyr76Cys)
c.215A>G (p.Tyr72Cys)
c.206A>G (p.Tyr69Cys)
c.197A>G (p.Tyr66Cys)
n.747A>G
11g.66211135A>TCA381341064PACS1c.536A>T (p.Tyr179Phe)
n.660A>T
c.242A>T (p.Tyr81Phe)
c.227A>T (p.Tyr76Phe)
c.215A>T (p.Tyr72Phe)
c.206A>T (p.Tyr69Phe)
c.197A>T (p.Tyr66Phe)
n.747A>T
11g.66211136C>ACA381341071PACS1c.537C>A (p.Tyr179Ter)
n.661C>A
c.243C>A (p.Tyr81Ter)
c.228C>A (p.Tyr76Ter)
c.216C>A (p.Tyr72Ter)
c.207C>A (p.Tyr69Ter)
c.198C>A (p.Tyr66Ter)
n.748C>A
11g.66211136C=CA1979579287PACS1c.537C= (p.Tyr179=)
n.661C=
c.243C= (p.Tyr81=)
c.228C= (p.Tyr76=)
c.216C= (p.Tyr72=)
c.207C= (p.Tyr69=)
c.198C= (p.Tyr66=)
n.748C=
11g.66211136C>GCA381341076PACS1c.537C>G (p.Tyr179Ter)
n.661C>G
c.243C>G (p.Tyr81Ter)
c.228C>G (p.Tyr76Ter)
c.216C>G (p.Tyr72Ter)
c.207C>G (p.Tyr69Ter)
c.198C>G (p.Tyr66Ter)
n.748C>G
11g.66211136C>TCA475299885PACS1c.537C>T (p.Tyr179=)
n.661C>T
c.243C>T (p.Tyr81=)
c.228C>T (p.Tyr76=)
c.216C>T (p.Tyr72=)
c.207C>T (p.Tyr69=)
c.198C>T (p.Tyr66=)
n.748C>T
 ClinVar dbSNP gnomAD v2
11g.66211137C>ACA381341104PACS1c.538C>A (p.Pro180Thr)
n.662C>A
c.244C>A (p.Pro82Thr)
c.229C>A (p.Pro77Thr)
c.217C>A (p.Pro73Thr)
c.208C>A (p.Pro70Thr)
c.199C>A (p.Pro67Thr)
n.749C>A
11g.66211137C>GCA381341111PACS1c.538C>G (p.Pro180Ala)
n.662C>G
c.244C>G (p.Pro82Ala)
c.229C>G (p.Pro77Ala)
c.217C>G (p.Pro73Ala)
c.208C>G (p.Pro70Ala)
c.199C>G (p.Pro67Ala)
n.749C>G
11g.66211137C>TCA381341122PACS1c.538C>T (p.Pro180Ser)
n.662C>T
c.244C>T (p.Pro82Ser)
c.229C>T (p.Pro77Ser)
c.217C>T (p.Pro73Ser)
c.208C>T (p.Pro70Ser)
c.199C>T (p.Pro67Ser)
n.749C>T
 gnomAD v4
11g.66211138C>ACA381341127PACS1c.539C>A (p.Pro180His)
n.663C>A
c.245C>A (p.Pro82His)
c.230C>A (p.Pro77His)
c.218C>A (p.Pro73His)
c.209C>A (p.Pro70His)
c.200C>A (p.Pro67His)
n.750C>A
11g.66211138C=CA1979579294PACS1c.539C= (p.Pro180=)
n.663C=
c.245C= (p.Pro82=)
c.230C= (p.Pro77=)
c.218C= (p.Pro73=)
c.209C= (p.Pro70=)
c.200C= (p.Pro67=)
n.750C=
11g.66211138C>GCA381341133PACS1c.539C>G (p.Pro180Arg)
n.663C>G
c.245C>G (p.Pro82Arg)
c.230C>G (p.Pro77Arg)
c.218C>G (p.Pro73Arg)
c.209C>G (p.Pro70Arg)
c.200C>G (p.Pro67Arg)
n.750C>G
 dbSNP gnomAD v4
11g.66211138C>TCA381341135PACS1c.539C>T (p.Pro180Leu)
n.663C>T
c.245C>T (p.Pro82Leu)
c.230C>T (p.Pro77Leu)
c.218C>T (p.Pro73Leu)
c.209C>T (p.Pro70Leu)
c.200C>T (p.Pro67Leu)
n.750C>T
 gnomAD v4
11g.66211139T>ACA475299889PACS1c.540T>A (p.Pro180=)
n.664T>A
c.246T>A (p.Pro82=)
c.231T>A (p.Pro77=)
c.219T>A (p.Pro73=)
c.210T>A (p.Pro70=)
c.201T>A (p.Pro67=)
n.751T>A
11g.66211139T>CCA475299890PACS1c.540T>C (p.Pro180=)
n.664T>C
c.246T>C (p.Pro82=)
c.231T>C (p.Pro77=)
c.219T>C (p.Pro73=)
c.210T>C (p.Pro70=)
c.201T>C (p.Pro67=)
n.751T>C
11g.66211139T>GCA475299891PACS1c.540T>G (p.Pro180=)
n.664T>G
c.246T>G (p.Pro82=)
c.231T>G (p.Pro77=)
c.219T>G (p.Pro73=)
c.210T>G (p.Pro70=)
c.201T>G (p.Pro67=)
n.751T>G
11g.66211140C>ACA381341169PACS1c.541C>A (p.His181Asn)
n.665C>A
c.247C>A (p.His83Asn)
c.232C>A (p.His78Asn)
c.220C>A (p.His74Asn)
c.211C>A (p.His71Asn)
c.202C>A (p.His68Asn)
n.752C>A
 COSMIC
11g.66211140C=CA1979579299PACS1c.541C= (p.His181=)
n.665C=
c.247C= (p.His83=)
c.232C= (p.His78=)
c.220C= (p.His74=)
c.211C= (p.His71=)
c.202C= (p.His68=)
n.752C=
11g.66211140C>GCA381341138PACS1c.541C>G (p.His181Asp)
n.665C>G
c.247C>G (p.His83Asp)
c.232C>G (p.His78Asp)
c.220C>G (p.His74Asp)
c.211C>G (p.His71Asp)
c.202C>G (p.His68Asp)
n.752C>G
11g.66211140C>TCA381341150PACS1c.541C>T (p.His181Tyr)
n.665C>T
c.247C>T (p.His83Tyr)
c.232C>T (p.His78Tyr)
c.220C>T (p.His74Tyr)
c.211C>T (p.His71Tyr)
c.202C>T (p.His68Tyr)
n.752C>T
 dbSNP COSMIC
11g.66211141A=CA1979579304PACS1c.542A= (p.His181=)
n.666A=
c.248A= (p.His83=)
c.233A= (p.His78=)
c.221A= (p.His74=)
c.212A= (p.His71=)
c.203A= (p.His68=)
n.753A=
11g.66211141A>CCA381341190PACS1c.542A>C (p.His181Pro)
n.666A>C
c.248A>C (p.His83Pro)
c.233A>C (p.His78Pro)
c.221A>C (p.His74Pro)
c.212A>C (p.His71Pro)
c.203A>C (p.His68Pro)
n.753A>C
11g.66211141A>GCA381341215PACS1c.542A>G (p.His181Arg)
n.666A>G
c.248A>G (p.His83Arg)
c.233A>G (p.His78Arg)
c.221A>G (p.His74Arg)
c.212A>G (p.His71Arg)
c.203A>G (p.His68Arg)
n.753A>G
 dbSNP
11g.66211141A>TCA381341224PACS1c.542A>T (p.His181Leu)
n.666A>T
c.248A>T (p.His83Leu)
c.233A>T (p.His78Leu)
c.221A>T (p.His74Leu)
c.212A>T (p.His71Leu)
c.203A>T (p.His68Leu)
n.753A>T
11g.66211142T>ACA381341226PACS1c.543T>A (p.His181Gln)
n.667T>A
c.249T>A (p.His83Gln)
c.234T>A (p.His78Gln)
c.222T>A (p.His74Gln)
c.213T>A (p.His71Gln)
c.204T>A (p.His68Gln)
n.754T>A
11g.66211142T>CCA475299894PACS1c.543T>C (p.His181=)
n.667T>C
c.249T>C (p.His83=)
c.234T>C (p.His78=)
c.222T>C (p.His74=)
c.213T>C (p.His71=)
c.204T>C (p.His68=)
n.754T>C
 dbSNP gnomAD v2
11g.66211142T>GCA381341230PACS1c.543T>G (p.His181Gln)
n.667T>G
c.249T>G (p.His83Gln)
c.234T>G (p.His78Gln)
c.222T>G (p.His74Gln)
c.213T>G (p.His71Gln)
c.204T>G (p.His68Gln)
n.754T>G
11g.66211142T=CA1979579306PACS1c.543T= (p.His181=)
n.667T=
c.249T= (p.His83=)
c.234T= (p.His78=)
c.222T= (p.His74=)
c.213T= (p.His71=)
c.204T= (p.His68=)
n.754T=
11g.66211143T>ACA381341248PACS1c.544T>A (p.Phe182Ile)
n.668T>A
c.250T>A (p.Phe84Ile)
c.235T>A (p.Phe79Ile)
c.223T>A (p.Phe75Ile)
c.214T>A (p.Phe72Ile)
c.205T>A (p.Phe69Ile)
n.755T>A
11g.66211143T>CCA381341268PACS1c.544T>C (p.Phe182Leu)
n.668T>C
c.250T>C (p.Phe84Leu)
c.235T>C (p.Phe79Leu)
c.223T>C (p.Phe75Leu)
c.214T>C (p.Phe72Leu)
c.205T>C (p.Phe69Leu)
n.755T>C
11g.66211143T>GCA381341273PACS1c.544T>G (p.Phe182Val)
n.668T>G
c.250T>G (p.Phe84Val)
c.235T>G (p.Phe79Val)
c.223T>G (p.Phe75Val)
c.214T>G (p.Phe72Val)
c.205T>G (p.Phe69Val)
n.755T>G
11g.66211144T>ACA381341277PACS1c.545T>A (p.Phe182Tyr)
n.669T>A
c.251T>A (p.Phe84Tyr)
c.236T>A (p.Phe79Tyr)
c.224T>A (p.Phe75Tyr)
c.215T>A (p.Phe72Tyr)
c.206T>A (p.Phe69Tyr)
n.756T>A
11g.66211144T>CCA381341278PACS1c.545T>C (p.Phe182Ser)
n.669T>C
c.251T>C (p.Phe84Ser)
c.236T>C (p.Phe79Ser)
c.224T>C (p.Phe75Ser)
c.215T>C (p.Phe72Ser)
c.206T>C (p.Phe69Ser)
n.756T>C
11g.66211144T>GCA381341283PACS1c.545T>G (p.Phe182Cys)
n.669T>G
c.251T>G (p.Phe84Cys)
c.236T>G (p.Phe79Cys)
c.224T>G (p.Phe75Cys)
c.215T>G (p.Phe72Cys)
c.206T>G (p.Phe69Cys)
n.756T>G
11g.66211145C>ACA381341311PACS1c.546C>A (p.Phe182Leu)
n.670C>A
c.252C>A (p.Phe84Leu)
c.237C>A (p.Phe79Leu)
c.225C>A (p.Phe75Leu)
c.216C>A (p.Phe72Leu)
c.207C>A (p.Phe69Leu)
n.757C>A
 ClinVar gnomAD v4
11g.66211145C>GCA381341292PACS1c.546C>G (p.Phe182Leu)
n.670C>G
c.252C>G (p.Phe84Leu)
c.237C>G (p.Phe79Leu)
c.225C>G (p.Phe75Leu)
c.216C>G (p.Phe72Leu)
c.207C>G (p.Phe69Leu)
n.757C>G
11g.66211145C>TCA475299897PACS1c.546C>T (p.Phe182=)
n.670C>T
c.252C>T (p.Phe84=)
c.237C>T (p.Phe79=)
c.225C>T (p.Phe75=)
c.216C>T (p.Phe72=)
c.207C>T (p.Phe69=)
n.757C>T
 gnomAD v4
11g.66211146C>ACA381341313PACS1c.547C>A (p.Leu183Ile)
n.671C>A
c.253C>A (p.Leu85Ile)
c.238C>A (p.Leu80Ile)
c.226C>A (p.Leu76Ile)
c.217C>A (p.Leu73Ile)
c.208C>A (p.Leu70Ile)
n.758C>A
11g.66211146C>GCA381341314PACS1c.547C>G (p.Leu183Val)
n.671C>G
c.253C>G (p.Leu85Val)
c.238C>G (p.Leu80Val)
c.226C>G (p.Leu76Val)
c.217C>G (p.Leu73Val)
c.208C>G (p.Leu70Val)
n.758C>G
11g.66211146C>TCA381341316PACS1c.547C>T (p.Leu183Phe)
n.671C>T
c.253C>T (p.Leu85Phe)
c.238C>T (p.Leu80Phe)
c.226C>T (p.Leu76Phe)
c.217C>T (p.Leu73Phe)
c.208C>T (p.Leu70Phe)
n.758C>T
 COSMIC
11g.66211147T>ACA381341322PACS1c.548T>A (p.Leu183His)
n.672T>A
c.254T>A (p.Leu85His)
c.239T>A (p.Leu80His)
c.227T>A (p.Leu76His)
c.218T>A (p.Leu73His)
c.209T>A (p.Leu70His)
n.759T>A
11g.66211147T>CCA381341328PACS1c.548T>C (p.Leu183Pro)
n.672T>C
c.254T>C (p.Leu85Pro)
c.239T>C (p.Leu80Pro)
c.227T>C (p.Leu76Pro)
c.218T>C (p.Leu73Pro)
c.209T>C (p.Leu70Pro)
n.759T>C
11g.66211147T>GCA381341329PACS1c.548T>G (p.Leu183Arg)
n.672T>G
c.254T>G (p.Leu85Arg)
c.239T>G (p.Leu80Arg)
c.227T>G (p.Leu76Arg)
c.218T>G (p.Leu73Arg)
c.209T>G (p.Leu70Arg)
n.759T>G
11g.66211148T>ACA475299901PACS1c.549T>A (p.Leu183=)
n.673T>A
c.255T>A (p.Leu85=)
c.240T>A (p.Leu80=)
c.228T>A (p.Leu76=)
c.219T>A (p.Leu73=)
c.210T>A (p.Leu70=)
n.760T>A
11g.66211148T>CCA475299904PACS1c.549T>C (p.Leu183=)
n.673T>C
c.255T>C (p.Leu85=)
c.240T>C (p.Leu80=)
c.228T>C (p.Leu76=)
c.219T>C (p.Leu73=)
c.210T>C (p.Leu70=)
n.760T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66211148T>GCA475299905PACS1c.549T>G (p.Leu183=)
n.673T>G
c.255T>G (p.Leu85=)
c.240T>G (p.Leu80=)
c.228T>G (p.Leu76=)
c.219T>G (p.Leu73=)
c.210T>G (p.Leu70=)
n.760T>G
11g.66211148T=CA1979579311PACS1c.549T= (p.Leu183=)
n.673T=
c.255T= (p.Leu85=)
c.240T= (p.Leu80=)
c.228T= (p.Leu76=)
c.219T= (p.Leu73=)
c.210T= (p.Leu70=)
n.760T=
11g.66211149A>CCA381341334PACS1c.550A>C (p.Lys184Gln)
n.674A>C
c.256A>C (p.Lys86Gln)
c.241A>C (p.Lys81Gln)
c.229A>C (p.Lys77Gln)
c.220A>C (p.Lys74Gln)
c.211A>C (p.Lys71Gln)
n.761A>C
11g.66211149A>GCA381341338PACS1c.550A>G (p.Lys184Glu)
n.674A>G
c.256A>G (p.Lys86Glu)
c.241A>G (p.Lys81Glu)
c.229A>G (p.Lys77Glu)
c.220A>G (p.Lys74Glu)
c.211A>G (p.Lys71Glu)
n.761A>G
11g.66211149A>TCA381341342PACS1c.550A>T (p.Lys184Ter)
n.674A>T
c.256A>T (p.Lys86Ter)
c.241A>T (p.Lys81Ter)
c.229A>T (p.Lys77Ter)
c.220A>T (p.Lys74Ter)
c.211A>T (p.Lys71Ter)
n.761A>T
11g.66211150A>CCA381341347PACS1c.551A>C (p.Lys184Thr)
n.675A>C
c.257A>C (p.Lys86Thr)
c.242A>C (p.Lys81Thr)
c.230A>C (p.Lys77Thr)
c.221A>C (p.Lys74Thr)
c.212A>C (p.Lys71Thr)
n.762A>C
11g.66211150A>GCA381341349PACS1c.551A>G (p.Lys184Arg)
n.675A>G
c.257A>G (p.Lys86Arg)
c.242A>G (p.Lys81Arg)
c.230A>G (p.Lys77Arg)
c.221A>G (p.Lys74Arg)
c.212A>G (p.Lys71Arg)
n.762A>G
11g.66211150A>TCA381341351PACS1c.551A>T (p.Lys184Met)
n.675A>T
c.257A>T (p.Lys86Met)
c.242A>T (p.Lys81Met)
c.230A>T (p.Lys77Met)
c.221A>T (p.Lys74Met)
c.212A>T (p.Lys71Met)
n.762A>T
11g.66211151G>ACA6116288PACS1c.552G>A (p.Lys184=)
n.676G>A
c.258G>A (p.Lys86=)
c.243G>A (p.Lys81=)
c.231G>A (p.Lys77=)
c.222G>A (p.Lys74=)
c.213G>A (p.Lys71=)
n.763G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.66211151G>CCA381341369PACS1c.552G>C (p.Lys184Asn)
n.676G>C
c.258G>C (p.Lys86Asn)
c.243G>C (p.Lys81Asn)
c.231G>C (p.Lys77Asn)
c.222G>C (p.Lys74Asn)
c.213G>C (p.Lys71Asn)
n.763G>C
11g.66211151G=CA1979579314PACS1c.552G= (p.Lys184=)
n.676G=
c.258G= (p.Lys86=)
c.243G= (p.Lys81=)
c.231G= (p.Lys77=)
c.222G= (p.Lys74=)
c.213G= (p.Lys71=)
n.763G=
11g.66211151G>TCA381341361PACS1c.552G>T (p.Lys184Asn)
n.676G>T
c.258G>T (p.Lys86Asn)
c.243G>T (p.Lys81Asn)
c.231G>T (p.Lys77Asn)
c.222G>T (p.Lys74Asn)
c.213G>T (p.Lys71Asn)
n.763G>T
11g.66211152C>ACA475299910PACS1c.553C>A (p.Arg185=)
n.677C>A
c.259C>A (p.Arg87=)
c.244C>A (p.Arg82=)
c.232C>A (p.Arg78=)
c.223C>A (p.Arg75=)
c.214C>A (p.Arg72=)
n.764C>A
11g.66211152C=CA1979579319PACS1c.553C= (p.Arg185=)
n.677C=
c.259C= (p.Arg87=)
c.244C= (p.Arg82=)
c.232C= (p.Arg78=)
c.223C= (p.Arg75=)
c.214C= (p.Arg72=)
n.764C=
11g.66211152C>GCA381341389PACS1c.553C>G (p.Arg185Gly)
n.677C>G
c.259C>G (p.Arg87Gly)
c.244C>G (p.Arg82Gly)
c.232C>G (p.Arg78Gly)
c.223C>G (p.Arg75Gly)
c.214C>G (p.Arg72Gly)
n.764C>G
11g.66211152C>TCA224025892PACS1c.553C>T (p.Arg185Ter)
n.677C>T
c.259C>T (p.Arg87Ter)
c.244C>T (p.Arg82Ter)
c.232C>T (p.Arg78Ter)
c.223C>T (p.Arg75Ter)
c.214C>T (p.Arg72Ter)
n.764C>T
 dbSNP gnomAD v4
11g.66211153G>ACA381341391PACS1c.554G>A (p.Arg185Gln)
n.678G>A
c.260G>A (p.Arg87Gln)
c.245G>A (p.Arg82Gln)
c.233G>A (p.Arg78Gln)
c.224G>A (p.Arg75Gln)
c.215G>A (p.Arg72Gln)
n.765G>A
 ClinVar gnomAD v4
11g.66211153G>CCA381341392PACS1c.554G>C (p.Arg185Pro)
n.678G>C
c.260G>C (p.Arg87Pro)
c.245G>C (p.Arg82Pro)
c.233G>C (p.Arg78Pro)
c.224G>C (p.Arg75Pro)
c.215G>C (p.Arg72Pro)
n.765G>C
11g.66211153G>TCA381341398PACS1c.554G>T (p.Arg185Leu)
n.678G>T
c.260G>T (p.Arg87Leu)
c.245G>T (p.Arg82Leu)
c.233G>T (p.Arg78Leu)
c.224G>T (p.Arg75Leu)
c.215G>T (p.Arg72Leu)
n.765G>T
 gnomAD v4
11g.66211154A>CCA475299918PACS1c.555A>C (p.Arg185=)
n.679A>C
c.261A>C (p.Arg87=)
c.246A>C (p.Arg82=)
c.234A>C (p.Arg78=)
c.225A>C (p.Arg75=)
c.216A>C (p.Arg72=)
n.766A>C
11g.66211154A>GCA475299919PACS1c.555A>G (p.Arg185=)
n.679A>G
c.261A>G (p.Arg87=)
c.246A>G (p.Arg82=)
c.234A>G (p.Arg78=)
c.225A>G (p.Arg75=)
c.216A>G (p.Arg72=)
n.766A>G
11g.66211154A>TCA475299917PACS1c.555A>T (p.Arg185=)
n.679A>T
c.261A>T (p.Arg87=)
c.246A>T (p.Arg82=)
c.234A>T (p.Arg78=)
c.225A>T (p.Arg75=)
c.216A>T (p.Arg72=)
n.766A>T
11g.66211155G>ACA381341407PACS1c.556G>A (p.Asp186Asn)
n.680G>A
c.262G>A (p.Asp88Asn)
c.247G>A (p.Asp83Asn)
c.235G>A (p.Asp79Asn)
c.226G>A (p.Asp76Asn)
c.217G>A (p.Asp73Asn)
n.767G>A
11g.66211155G>CCA381341404PACS1c.556G>C (p.Asp186His)
n.680G>C
c.262G>C (p.Asp88His)
c.247G>C (p.Asp83His)
c.235G>C (p.Asp79His)
c.226G>C (p.Asp76His)
c.217G>C (p.Asp73His)
n.767G>C
11g.66211155G>TCA381341405PACS1c.556G>T (p.Asp186Tyr)
n.680G>T
c.262G>T (p.Asp88Tyr)
c.247G>T (p.Asp83Tyr)
c.235G>T (p.Asp79Tyr)
c.226G>T (p.Asp76Tyr)
c.217G>T (p.Asp73Tyr)
n.767G>T
11g.66211156A=CA1979579324PACS1c.557A= (p.Asp186=)
n.681A=
c.263A= (p.Asp88=)
c.248A= (p.Asp83=)
c.236A= (p.Asp79=)
c.227A= (p.Asp76=)
c.218A= (p.Asp73=)
n.768A=
11g.66211156A>CCA381341415PACS1c.557A>C (p.Asp186Ala)
n.681A>C
c.263A>C (p.Asp88Ala)
c.248A>C (p.Asp83Ala)
c.236A>C (p.Asp79Ala)
c.227A>C (p.Asp76Ala)
c.218A>C (p.Asp73Ala)
n.768A>C
11g.66211156A>GCA381341428PACS1c.557A>G (p.Asp186Gly)
n.681A>G
c.263A>G (p.Asp88Gly)
c.248A>G (p.Asp83Gly)
c.236A>G (p.Asp79Gly)
c.227A>G (p.Asp76Gly)
c.218A>G (p.Asp73Gly)
n.768A>G
 dbSNP
11g.66211156A>TCA381341436PACS1c.557A>T (p.Asp186Val)
n.681A>T
c.263A>T (p.Asp88Val)
c.248A>T (p.Asp83Val)
c.236A>T (p.Asp79Val)
c.227A>T (p.Asp76Val)
c.218A>T (p.Asp73Val)
n.768A>T
 gnomAD v4
11g.66211157T>ACA381341451PACS1c.558T>A (p.Asp186Glu)
n.682T>A
c.264T>A (p.Asp88Glu)
c.249T>A (p.Asp83Glu)
c.237T>A (p.Asp79Glu)
c.228T>A (p.Asp76Glu)
c.219T>A (p.Asp73Glu)
n.769T>A
11g.66211157T>CCA475299929PACS1c.558T>C (p.Asp186=)
n.682T>C
c.264T>C (p.Asp88=)
c.249T>C (p.Asp83=)
c.237T>C (p.Asp79=)
c.228T>C (p.Asp76=)
c.219T>C (p.Asp73=)
n.769T>C
11g.66211157T>GCA381341462PACS1c.558T>G (p.Asp186Glu)
n.682T>G
c.264T>G (p.Asp88Glu)
c.249T>G (p.Asp83Glu)
c.237T>G (p.Asp79Glu)
c.228T>G (p.Asp76Glu)
c.219T>G (p.Asp73Glu)
n.769T>G
11g.66211158G>ACA381341494PACS1c.559G>A (p.Ala187Thr)
n.683G>A
c.265G>A (p.Ala89Thr)
c.250G>A (p.Ala84Thr)
c.238G>A (p.Ala80Thr)
c.229G>A (p.Ala77Thr)
c.220G>A (p.Ala74Thr)
n.770G>A
11g.66211158G>CCA381341484PACS1c.559G>C (p.Ala187Pro)
n.683G>C
c.265G>C (p.Ala89Pro)
c.250G>C (p.Ala84Pro)
c.238G>C (p.Ala80Pro)
c.229G>C (p.Ala77Pro)
c.220G>C (p.Ala74Pro)
n.770G>C
11g.66211158G>TCA381341470PACS1c.559G>T (p.Ala187Ser)
n.683G>T
c.265G>T (p.Ala89Ser)
c.250G>T (p.Ala84Ser)
c.238G>T (p.Ala80Ser)
c.229G>T (p.Ala77Ser)
c.220G>T (p.Ala74Ser)
n.770G>T
11g.66211159C>ACA381341503PACS1c.560C>A (p.Ala187Asp)
n.684C>A
c.266C>A (p.Ala89Asp)
c.251C>A (p.Ala84Asp)
c.239C>A (p.Ala80Asp)
c.230C>A (p.Ala77Asp)
c.221C>A (p.Ala74Asp)
n.771C>A
11g.66211159C=CA1979579328PACS1c.560C= (p.Ala187=)
n.684C=
c.266C= (p.Ala89=)
c.251C= (p.Ala84=)
c.239C= (p.Ala80=)
c.230C= (p.Ala77=)
c.221C= (p.Ala74=)
n.771C=
11g.66211159C>GCA381341539PACS1c.560C>G (p.Ala187Gly)
n.684C>G
c.266C>G (p.Ala89Gly)
c.251C>G (p.Ala84Gly)
c.239C>G (p.Ala80Gly)
c.230C>G (p.Ala77Gly)
c.221C>G (p.Ala74Gly)
n.771C>G
 gnomAD v4
11g.66211159C>TCA381341508PACS1c.560C>T (p.Ala187Val)
n.684C>T
c.266C>T (p.Ala89Val)
c.251C>T (p.Ala84Val)
c.239C>T (p.Ala80Val)
c.230C>T (p.Ala77Val)
c.221C>T (p.Ala74Val)
n.771C>T
 dbSNP gnomAD v2 gnomAD v4
11g.66211160C>ACA475299945PACS1c.561C>A (p.Ala187=)
n.685C>A
c.267C>A (p.Ala89=)
c.252C>A (p.Ala84=)
c.240C>A (p.Ala80=)
c.231C>A (p.Ala77=)
c.222C>A (p.Ala74=)
n.772C>A
11g.66211160C>GCA475299947PACS1c.561C>G (p.Ala187=)
n.685C>G
c.267C>G (p.Ala89=)
c.252C>G (p.Ala84=)
c.240C>G (p.Ala80=)
c.231C>G (p.Ala77=)
c.222C>G (p.Ala74=)
n.772C>G
11g.66211160C>TCA475299946PACS1c.561C>T (p.Ala187=)
n.685C>T
c.267C>T (p.Ala89=)
c.252C>T (p.Ala84=)
c.240C>T (p.Ala80=)
c.231C>T (p.Ala77=)
c.222C>T (p.Ala74=)
n.772C>T
11g.66211161A>CCA381341549PACS1c.562A>C (p.Asn188His)
n.686A>C
c.268A>C (p.Asn90His)
c.253A>C (p.Asn85His)
c.241A>C (p.Asn81His)
c.232A>C (p.Asn78His)
c.223A>C (p.Asn75His)
n.773A>C
11g.66211161A>GCA381341570PACS1c.562A>G (p.Asn188Asp)
n.686A>G
c.268A>G (p.Asn90Asp)
c.253A>G (p.Asn85Asp)
c.241A>G (p.Asn81Asp)
c.232A>G (p.Asn78Asp)
c.223A>G (p.Asn75Asp)
n.773A>G
 gnomAD v4
11g.66211161A>TCA381341558PACS1c.562A>T (p.Asn188Tyr)
n.686A>T
c.268A>T (p.Asn90Tyr)
c.253A>T (p.Asn85Tyr)
c.241A>T (p.Asn81Tyr)
c.232A>T (p.Asn78Tyr)
c.223A>T (p.Asn75Tyr)
n.773A>T
11g.66211162A=CA1979579331PACS1c.563A= (p.Asn188=)
n.687A=
c.269A= (p.Asn90=)
c.254A= (p.Asn85=)
c.242A= (p.Asn81=)
c.233A= (p.Asn78=)
c.224A= (p.Asn75=)
n.774A=
11g.66211162A>CCA381341573PACS1c.563A>C (p.Asn188Thr)
n.687A>C
c.269A>C (p.Asn90Thr)
c.254A>C (p.Asn85Thr)
c.242A>C (p.Asn81Thr)
c.233A>C (p.Asn78Thr)
c.224A>C (p.Asn75Thr)
n.774A>C
11g.66211162A>GCA6116289PACS1c.563A>G (p.Asn188Ser)
n.687A>G
c.269A>G (p.Asn90Ser)
c.254A>G (p.Asn85Ser)
c.242A>G (p.Asn81Ser)
c.233A>G (p.Asn78Ser)
c.224A>G (p.Asn75Ser)
n.774A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211162A>TCA381341580PACS1c.563A>T (p.Asn188Ile)
n.687A>T
c.269A>T (p.Asn90Ile)
c.254A>T (p.Asn85Ile)
c.242A>T (p.Asn81Ile)
c.233A>T (p.Asn78Ile)
c.224A>T (p.Asn75Ile)
n.774A>T
11g.66211163C>ACA381341587PACS1c.564C>A (p.Asn188Lys)
n.688C>A
c.270C>A (p.Asn90Lys)
c.255C>A (p.Asn85Lys)
c.243C>A (p.Asn81Lys)
c.234C>A (p.Asn78Lys)
c.225C>A (p.Asn75Lys)
n.775C>A
11g.66211163C>GCA381341608PACS1c.564C>G (p.Asn188Lys)
n.688C>G
c.270C>G (p.Asn90Lys)
c.255C>G (p.Asn85Lys)
c.243C>G (p.Asn81Lys)
c.234C>G (p.Asn78Lys)
c.225C>G (p.Asn75Lys)
n.775C>G
11g.66211163C>TCA475299971PACS1c.564C>T (p.Asn188=)
n.688C>T
c.270C>T (p.Asn90=)
c.255C>T (p.Asn85=)
c.243C>T (p.Asn81=)
c.234C>T (p.Asn78=)
c.225C>T (p.Asn75=)
n.775C>T
11g.66211164A>CCA381341609PACS1c.565A>C (p.Lys189Gln)
n.689A>C
c.271A>C (p.Lys91Gln)
c.256A>C (p.Lys86Gln)
c.244A>C (p.Lys82Gln)
c.235A>C (p.Lys79Gln)
c.226A>C (p.Lys76Gln)
n.776A>C
11g.66211164A>GCA381341611PACS1c.565A>G (p.Lys189Glu)
n.689A>G
c.271A>G (p.Lys91Glu)
c.256A>G (p.Lys86Glu)
c.244A>G (p.Lys82Glu)
c.235A>G (p.Lys79Glu)
c.226A>G (p.Lys76Glu)
n.776A>G
11g.66211164A>TCA381341615PACS1c.565A>T (p.Lys189Ter)
n.689A>T
c.271A>T (p.Lys91Ter)
c.256A>T (p.Lys86Ter)
c.244A>T (p.Lys82Ter)
c.235A>T (p.Lys79Ter)
c.226A>T (p.Lys76Ter)
n.776A>T
11g.66211165A>CCA381341653PACS1c.566A>C (p.Lys189Thr)
n.690A>C
c.272A>C (p.Lys91Thr)
c.257A>C (p.Lys86Thr)
c.245A>C (p.Lys82Thr)
c.236A>C (p.Lys79Thr)
c.227A>C (p.Lys76Thr)
n.777A>C
11g.66211165A>GCA381341664PACS1c.566A>G (p.Lys189Arg)
n.690A>G
c.272A>G (p.Lys91Arg)
c.257A>G (p.Lys86Arg)
c.245A>G (p.Lys82Arg)
c.236A>G (p.Lys79Arg)
c.227A>G (p.Lys76Arg)
n.777A>G
11g.66211165A>TCA381341675PACS1c.566A>T (p.Lys189Met)
n.690A>T
c.272A>T (p.Lys91Met)
c.257A>T (p.Lys86Met)
c.245A>T (p.Lys82Met)
c.236A>T (p.Lys79Met)
c.227A>T (p.Lys76Met)
n.777A>T
11g.66211166G>ACA475299984PACS1c.567G>A (p.Lys189=)
n.691G>A
c.273G>A (p.Lys91=)
c.258G>A (p.Lys86=)
c.246G>A (p.Lys82=)
c.237G>A (p.Lys79=)
c.228G>A (p.Lys76=)
n.778G>A
11g.66211166G>CCA381341707PACS1c.567G>C (p.Lys189Asn)
n.691G>C
c.273G>C (p.Lys91Asn)
c.258G>C (p.Lys86Asn)
c.246G>C (p.Lys82Asn)
c.237G>C (p.Lys79Asn)
c.228G>C (p.Lys76Asn)
n.778G>C
 ClinVar
11g.66211166G>TCA381341698PACS1c.567G>T (p.Lys189Asn)
n.691G>T
c.273G>T (p.Lys91Asn)
c.258G>T (p.Lys86Asn)
c.246G>T (p.Lys82Asn)
c.237G>T (p.Lys79Asn)
c.228G>T (p.Lys76Asn)
n.778G>T
11g.66211167C>ACA381341729PACS1c.568C>A (p.Leu190Met)
n.692C>A
c.274C>A (p.Leu92Met)
c.259C>A (p.Leu87Met)
c.247C>A (p.Leu83Met)
c.238C>A (p.Leu80Met)
c.229C>A (p.Leu77Met)
n.779C>A
11g.66211167C>GCA381341738PACS1c.568C>G (p.Leu190Val)
n.692C>G
c.274C>G (p.Leu92Val)
c.259C>G (p.Leu87Val)
c.247C>G (p.Leu83Val)
c.238C>G (p.Leu80Val)
c.229C>G (p.Leu77Val)
n.779C>G
11g.66211167C>TCA475299997PACS1c.568C>T (p.Leu190=)
n.692C>T
c.274C>T (p.Leu92=)
c.259C>T (p.Leu87=)
c.247C>T (p.Leu83=)
c.238C>T (p.Leu80=)
c.229C>T (p.Leu77=)
n.779C>T
11g.66211168T>ACA381341746PACS1c.569T>A (p.Leu190Gln)
n.693T>A
c.275T>A (p.Leu92Gln)
c.260T>A (p.Leu87Gln)
c.248T>A (p.Leu83Gln)
c.239T>A (p.Leu80Gln)
c.230T>A (p.Leu77Gln)
n.780T>A
11g.66211168T>CCA381341748PACS1c.569T>C (p.Leu190Pro)
n.693T>C
c.275T>C (p.Leu92Pro)
c.260T>C (p.Leu87Pro)
c.248T>C (p.Leu83Pro)
c.239T>C (p.Leu80Pro)
c.230T>C (p.Leu77Pro)
n.780T>C
11g.66211168T>GCA381341749PACS1c.569T>G (p.Leu190Arg)
n.693T>G
c.275T>G (p.Leu92Arg)
c.260T>G (p.Leu87Arg)
c.248T>G (p.Leu83Arg)
c.239T>G (p.Leu80Arg)
c.230T>G (p.Leu77Arg)
n.780T>G
11g.66211169G>ACA475300000PACS1c.570G>A (p.Leu190=)
n.694G>A
c.276G>A (p.Leu92=)
c.261G>A (p.Leu87=)
c.249G>A (p.Leu83=)
c.240G>A (p.Leu80=)
c.231G>A (p.Leu77=)
n.781G>A
11g.66211169G>CCA475300002PACS1c.570G>C (p.Leu190=)
n.694G>C
c.276G>C (p.Leu92=)
c.261G>C (p.Leu87=)
c.249G>C (p.Leu83=)
c.240G>C (p.Leu80=)
c.231G>C (p.Leu77=)
n.781G>C
11g.66211169G>TCA475300005PACS1c.570G>T (p.Leu190=)
n.694G>T
c.276G>T (p.Leu92=)
c.261G>T (p.Leu87=)
c.249G>T (p.Leu83=)
c.240G>T (p.Leu80=)
c.231G>T (p.Leu77=)
n.781G>T
11g.66211170C>ACA381341752PACS1c.571C>A (p.Gln191Lys)
n.695C>A
c.277C>A (p.Gln93Lys)
c.262C>A (p.Gln88Lys)
c.250C>A (p.Gln84Lys)
c.241C>A (p.Gln81Lys)
c.232C>A (p.Gln78Lys)
n.782C>A
11g.66211170C>GCA381341759PACS1c.571C>G (p.Gln191Glu)
n.695C>G
c.277C>G (p.Gln93Glu)
c.262C>G (p.Gln88Glu)
c.250C>G (p.Gln84Glu)
c.241C>G (p.Gln81Glu)
c.232C>G (p.Gln78Glu)
n.782C>G
11g.66211170C>TCA381341782PACS1c.571C>T (p.Gln191Ter)
n.695C>T
c.277C>T (p.Gln93Ter)
c.262C>T (p.Gln88Ter)
c.250C>T (p.Gln84Ter)
c.241C>T (p.Gln81Ter)
c.232C>T (p.Gln78Ter)
n.782C>T
11g.66211171A>CCA381341784PACS1c.572A>C (p.Gln191Pro)
n.696A>C
c.278A>C (p.Gln93Pro)
c.263A>C (p.Gln88Pro)
c.251A>C (p.Gln84Pro)
c.242A>C (p.Gln81Pro)
c.233A>C (p.Gln78Pro)
n.783A>C
11g.66211171A>GCA381341794PACS1c.572A>G (p.Gln191Arg)
n.696A>G
c.278A>G (p.Gln93Arg)
c.263A>G (p.Gln88Arg)
c.251A>G (p.Gln84Arg)
c.242A>G (p.Gln81Arg)
c.233A>G (p.Gln78Arg)
n.783A>G
11g.66211171A>TCA381341798PACS1c.572A>T (p.Gln191Leu)
n.696A>T
c.278A>T (p.Gln93Leu)
c.263A>T (p.Gln88Leu)
c.251A>T (p.Gln84Leu)
c.242A>T (p.Gln81Leu)
c.233A>T (p.Gln78Leu)
n.783A>T
11g.66211172G>ACA6116290PACS1c.573G>A (p.Gln191=)
n.697G>A
c.279G>A (p.Gln93=)
c.264G>A (p.Gln88=)
c.252G>A (p.Gln84=)
c.243G>A (p.Gln81=)
c.234G>A (p.Gln78=)
n.784G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211172G>CCA381341811PACS1c.573G>C (p.Gln191His)
n.697G>C
c.279G>C (p.Gln93His)
c.264G>C (p.Gln88His)
c.252G>C (p.Gln84His)
c.243G>C (p.Gln81His)
c.234G>C (p.Gln78His)
n.784G>C
11g.66211172G=CA1979579337PACS1c.573G= (p.Gln191=)
n.697G=
c.279G= (p.Gln93=)
c.264G= (p.Gln88=)
c.252G= (p.Gln84=)
c.243G= (p.Gln81=)
c.234G= (p.Gln78=)
n.784G=
11g.66211172G>TCA381341800PACS1c.573G>T (p.Gln191His)
n.697G>T
c.279G>T (p.Gln93His)
c.264G>T (p.Gln88His)
c.252G>T (p.Gln84His)
c.243G>T (p.Gln81His)
c.234G>T (p.Gln78His)
n.784G>T
11g.66211173A>CCA381341818PACS1c.574A>C (p.Ile192Leu)
n.698A>C
c.280A>C (p.Ile94Leu)
c.265A>C (p.Ile89Leu)
c.253A>C (p.Ile85Leu)
c.244A>C (p.Ile82Leu)
c.235A>C (p.Ile79Leu)
n.785A>C
11g.66211173A>GCA381341822PACS1c.574A>G (p.Ile192Val)
n.698A>G
c.280A>G (p.Ile94Val)
c.265A>G (p.Ile89Val)
c.253A>G (p.Ile85Val)
c.244A>G (p.Ile82Val)
c.235A>G (p.Ile79Val)
n.785A>G
11g.66211173A>TCA381341827PACS1c.574A>T (p.Ile192Phe)
n.698A>T
c.280A>T (p.Ile94Phe)
c.265A>T (p.Ile89Phe)
c.253A>T (p.Ile85Phe)
c.244A>T (p.Ile82Phe)
c.235A>T (p.Ile79Phe)
n.785A>T
11g.66211174T>ACA381341829PACS1c.575T>A (p.Ile192Asn)
n.699T>A
c.281T>A (p.Ile94Asn)
c.266T>A (p.Ile89Asn)
c.254T>A (p.Ile85Asn)
c.245T>A (p.Ile82Asn)
c.236T>A (p.Ile79Asn)
n.786T>A
 gnomAD v4
11g.66211174T>CCA381341831PACS1c.575T>C (p.Ile192Thr)
n.699T>C
c.281T>C (p.Ile94Thr)
c.266T>C (p.Ile89Thr)
c.254T>C (p.Ile85Thr)
c.245T>C (p.Ile82Thr)
c.236T>C (p.Ile79Thr)
n.786T>C
11g.66211174T>GCA381341832PACS1c.575T>G (p.Ile192Ser)
n.699T>G
c.281T>G (p.Ile94Ser)
c.266T>G (p.Ile89Ser)
c.254T>G (p.Ile85Ser)
c.245T>G (p.Ile82Ser)
c.236T>G (p.Ile79Ser)
n.786T>G
11g.66211175C>ACA475300069PACS1c.576C>A (p.Ile192=)
n.700C>A
c.282C>A (p.Ile94=)
c.267C>A (p.Ile89=)
c.255C>A (p.Ile85=)
c.246C>A (p.Ile82=)
c.237C>A (p.Ile79=)
n.787C>A
11g.66211175C=CA1979579343PACS1c.576C= (p.Ile192=)
n.700C=
c.282C= (p.Ile94=)
c.267C= (p.Ile89=)
c.255C= (p.Ile85=)
c.246C= (p.Ile82=)
c.237C= (p.Ile79=)
n.787C=
11g.66211175C>GCA381341836PACS1c.576C>G (p.Ile192Met)
n.700C>G
c.282C>G (p.Ile94Met)
c.267C>G (p.Ile89Met)
c.255C>G (p.Ile85Met)
c.246C>G (p.Ile82Met)
c.237C>G (p.Ile79Met)
n.787C>G
 gnomAD v4
11g.66211175C>TCA475300068PACS1c.576C>T (p.Ile192=)
n.700C>T
c.282C>T (p.Ile94=)
c.267C>T (p.Ile89=)
c.255C>T (p.Ile85=)
c.246C>T (p.Ile82=)
c.237C>T (p.Ile79=)
n.787C>T
 dbSNP gnomAD v2
11g.66211176A=CA1979579346PACS1c.577A= (p.Met193=)
n.701A=
c.283A= (p.Met95=)
c.268A= (p.Met90=)
c.256A= (p.Met86=)
c.247A= (p.Met83=)
c.238A= (p.Met80=)
n.788A=
11g.66211176A>CCA381341848PACS1c.577A>C (p.Met193Leu)
n.701A>C
c.283A>C (p.Met95Leu)
c.268A>C (p.Met90Leu)
c.256A>C (p.Met86Leu)
c.247A>C (p.Met83Leu)
c.238A>C (p.Met80Leu)
n.788A>C
11g.66211176A>GCA381341871PACS1c.577A>G (p.Met193Val)
n.701A>G
c.283A>G (p.Met95Val)
c.268A>G (p.Met90Val)
c.256A>G (p.Met86Val)
c.247A>G (p.Met83Val)
c.238A>G (p.Met80Val)
n.788A>G
 ClinVar dbSNP
11g.66211176A>TCA381341884PACS1c.577A>T (p.Met193Leu)
n.701A>T
c.283A>T (p.Met95Leu)
c.268A>T (p.Met90Leu)
c.256A>T (p.Met86Leu)
c.247A>T (p.Met83Leu)
c.238A>T (p.Met80Leu)
n.788A>T
11g.66211177T>ACA381341895PACS1c.578T>A (p.Met193Lys)
n.702T>A
c.284T>A (p.Met95Lys)
c.269T>A (p.Met90Lys)
c.257T>A (p.Met86Lys)
c.248T>A (p.Met83Lys)
c.239T>A (p.Met80Lys)
n.789T>A
11g.66211177T>CCA381341917PACS1c.578T>C (p.Met193Thr)
n.702T>C
c.284T>C (p.Met95Thr)
c.269T>C (p.Met90Thr)
c.257T>C (p.Met86Thr)
c.248T>C (p.Met83Thr)
c.239T>C (p.Met80Thr)
n.789T>C
11g.66211177T>GCA381341923PACS1c.578T>G (p.Met193Arg)
n.702T>G
c.284T>G (p.Met95Arg)
c.269T>G (p.Met90Arg)
c.257T>G (p.Met86Arg)
c.248T>G (p.Met83Arg)
c.239T>G (p.Met80Arg)
n.789T>G
11g.66211178G>ACA381341938PACS1c.579G>A (p.Met193Ile)
n.703G>A
c.285G>A (p.Met95Ile)
c.270G>A (p.Met90Ile)
c.258G>A (p.Met86Ile)
c.249G>A (p.Met83Ile)
c.240G>A (p.Met80Ile)
n.790G>A
11g.66211178G>CCA381341954PACS1c.579G>C (p.Met193Ile)
n.703G>C
c.285G>C (p.Met95Ile)
c.270G>C (p.Met90Ile)
c.258G>C (p.Met86Ile)
c.249G>C (p.Met83Ile)
c.240G>C (p.Met80Ile)
n.790G>C
11g.66211178G>TCA381341947PACS1c.579G>T (p.Met193Ile)
n.703G>T
c.285G>T (p.Met95Ile)
c.270G>T (p.Met90Ile)
c.258G>T (p.Met86Ile)
c.249G>T (p.Met83Ile)
c.240G>T (p.Met80Ile)
n.790G>T
11g.66211179C>ACA381341959PACS1c.580C>A (p.Leu194Met)
n.704C>A
c.286C>A (p.Leu96Met)
c.271C>A (p.Leu91Met)
c.259C>A (p.Leu87Met)
c.250C>A (p.Leu84Met)
c.241C>A (p.Leu81Met)
n.791C>A
11g.66211179C>GCA381341966PACS1c.580C>G (p.Leu194Val)
n.704C>G
c.286C>G (p.Leu96Val)
c.271C>G (p.Leu91Val)
c.259C>G (p.Leu87Val)
c.250C>G (p.Leu84Val)
c.241C>G (p.Leu81Val)
n.791C>G
11g.66211179C>TCA475300116PACS1c.580C>T (p.Leu194=)
n.704C>T
c.286C>T (p.Leu96=)
c.271C>T (p.Leu91=)
c.259C>T (p.Leu87=)
c.250C>T (p.Leu84=)
c.241C>T (p.Leu81=)
n.791C>T
 gnomAD v3 gnomAD v4
11g.66211180T>ACA381341969PACS1c.581T>A (p.Leu194Gln)
n.705T>A
c.287T>A (p.Leu96Gln)
c.272T>A (p.Leu91Gln)
c.260T>A (p.Leu87Gln)
c.251T>A (p.Leu84Gln)
c.242T>A (p.Leu81Gln)
n.792T>A
11g.66211180T>CCA381341993PACS1c.581T>C (p.Leu194Pro)
n.705T>C
c.287T>C (p.Leu96Pro)
c.272T>C (p.Leu91Pro)
c.260T>C (p.Leu87Pro)
c.251T>C (p.Leu84Pro)
c.242T>C (p.Leu81Pro)
n.792T>C
11g.66211180T>GCA381342019PACS1c.581T>G (p.Leu194Arg)
n.705T>G
c.287T>G (p.Leu96Arg)
c.272T>G (p.Leu91Arg)
c.260T>G (p.Leu87Arg)
c.251T>G (p.Leu84Arg)
c.242T>G (p.Leu81Arg)
n.792T>G
11g.66211181G>ACA6116291PACS1c.582G>A (p.Leu194=)
n.706G>A
c.288G>A (p.Leu96=)
c.273G>A (p.Leu91=)
c.261G>A (p.Leu87=)
c.252G>A (p.Leu84=)
c.243G>A (p.Leu81=)
n.793G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66211181G>CCA475300125PACS1c.582G>C (p.Leu194=)
n.706G>C
c.288G>C (p.Leu96=)
c.273G>C (p.Leu91=)
c.261G>C (p.Leu87=)
c.252G>C (p.Leu84=)
c.243G>C (p.Leu81=)
n.793G>C
11g.66211181G=CA1979579352PACS1c.582G= (p.Leu194=)
n.706G=
c.288G= (p.Leu96=)
c.273G= (p.Leu91=)
c.261G= (p.Leu87=)
c.252G= (p.Leu84=)
c.243G= (p.Leu81=)
n.793G=
11g.66211181G>TCA475300127PACS1c.582G>T (p.Leu194=)
n.706G>T
c.288G>T (p.Leu96=)
c.273G>T (p.Leu91=)
c.261G>T (p.Leu87=)
c.252G>T (p.Leu84=)
c.243G>T (p.Leu81=)
n.793G>T
11g.66211182C>ACA224025900PACS1c.583C>A (p.Gln195Lys)
n.707C>A
c.289C>A (p.Gln97Lys)
c.274C>A (p.Gln92Lys)
c.262C>A (p.Gln88Lys)
c.253C>A (p.Gln85Lys)
c.244C>A (p.Gln82Lys)
n.794C>A
 dbSNP
11g.66211182C=CA1979579355PACS1c.583C= (p.Gln195=)
n.707C=
c.289C= (p.Gln97=)
c.274C= (p.Gln92=)
c.262C= (p.Gln88=)
c.253C= (p.Gln85=)
c.244C= (p.Gln82=)
n.794C=
11g.66211182C>GCA381342026PACS1c.583C>G (p.Gln195Glu)
n.707C>G
c.289C>G (p.Gln97Glu)
c.274C>G (p.Gln92Glu)
c.262C>G (p.Gln88Glu)
c.253C>G (p.Gln85Glu)
c.244C>G (p.Gln82Glu)
n.794C>G
11g.66211182C>TCA381342033PACS1c.583C>T (p.Gln195Ter)
n.707C>T
c.289C>T (p.Gln97Ter)
c.274C>T (p.Gln92Ter)
c.262C>T (p.Gln88Ter)
c.253C>T (p.Gln85Ter)
c.244C>T (p.Gln82Ter)
n.794C>T
11g.66211183A>CCA381342039PACS1c.584A>C (p.Gln195Pro)
n.708A>C
c.290A>C (p.Gln97Pro)
c.275A>C (p.Gln92Pro)
c.263A>C (p.Gln88Pro)
c.254A>C (p.Gln85Pro)
c.245A>C (p.Gln82Pro)
n.795A>C
11g.66211183A>GCA381342046PACS1c.584A>G (p.Gln195Arg)
n.708A>G
c.290A>G (p.Gln97Arg)
c.275A>G (p.Gln92Arg)
c.263A>G (p.Gln88Arg)
c.254A>G (p.Gln85Arg)
c.245A>G (p.Gln82Arg)
n.795A>G
11g.66211183A>TCA381342049PACS1c.584A>T (p.Gln195Leu)
n.708A>T
c.290A>T (p.Gln97Leu)
c.275A>T (p.Gln92Leu)
c.263A>T (p.Gln88Leu)
c.254A>T (p.Gln85Leu)
c.245A>T (p.Gln82Leu)
n.795A>T
11g.66211184A>CCA381342052PACS1c.585A>C (p.Gln195His)
n.709A>C
c.291A>C (p.Gln97His)
c.276A>C (p.Gln92His)
c.264A>C (p.Gln88His)
c.255A>C (p.Gln85His)
c.246A>C (p.Gln82His)
n.796A>C
11g.66211184A>GCA475300157PACS1c.585A>G (p.Gln195=)
n.709A>G
c.291A>G (p.Gln97=)
c.276A>G (p.Gln92=)
c.264A>G (p.Gln88=)
c.255A>G (p.Gln85=)
c.246A>G (p.Gln82=)
n.796A>G
 ClinVar gnomAD v4
11g.66211184A>TCA381342051PACS1c.585A>T (p.Gln195His)
n.709A>T
c.291A>T (p.Gln97His)
c.276A>T (p.Gln92His)
c.264A>T (p.Gln88His)
c.255A>T (p.Gln85His)
c.246A>T (p.Gln82His)
n.796A>T
11g.66211185A>CCA475300163PACS1c.586A>C (p.Arg196=)
n.710A>C
c.292A>C (p.Arg98=)
c.277A>C (p.Arg93=)
c.265A>C (p.Arg89=)
c.256A>C (p.Arg86=)
c.247A>C (p.Arg83=)
n.797A>C
11g.66211185A>GCA381342056PACS1c.586A>G (p.Arg196Gly)
n.710A>G
c.292A>G (p.Arg98Gly)
c.277A>G (p.Arg93Gly)
c.265A>G (p.Arg89Gly)
c.256A>G (p.Arg86Gly)
c.247A>G (p.Arg83Gly)
n.797A>G
11g.66211185A>TCA381342061PACS1c.586A>T (p.Arg196Trp)
n.710A>T
c.292A>T (p.Arg98Trp)
c.277A>T (p.Arg93Trp)
c.265A>T (p.Arg89Trp)
c.256A>T (p.Arg86Trp)
c.247A>T (p.Arg83Trp)
n.797A>T
11g.66211186G>ACA381342070PACS1c.587G>A (p.Arg196Lys)
n.711G>A
c.293G>A (p.Arg98Lys)
c.278G>A (p.Arg93Lys)
c.266G>A (p.Arg89Lys)
c.257G>A (p.Arg86Lys)
c.248G>A (p.Arg83Lys)
n.798G>A
 COSMIC
11g.66211186G>CCA381342079PACS1c.587G>C (p.Arg196Thr)
n.711G>C
c.293G>C (p.Arg98Thr)
c.278G>C (p.Arg93Thr)
c.266G>C (p.Arg89Thr)
c.257G>C (p.Arg86Thr)
c.248G>C (p.Arg83Thr)
n.798G>C
11g.66211186G>TCA381342098PACS1c.587G>T (p.Arg196Met)
n.711G>T
c.293G>T (p.Arg98Met)
c.278G>T (p.Arg93Met)
c.266G>T (p.Arg89Met)
c.257G>T (p.Arg86Met)
c.248G>T (p.Arg83Met)
n.798G>T
11g.66211187G>ACA475300184PACS1c.588G>A (p.Arg196=)
n.712G>A
c.294G>A (p.Arg98=)
c.279G>A (p.Arg93=)
c.267G>A (p.Arg89=)
c.258G>A (p.Arg86=)
c.249G>A (p.Arg83=)
n.799G>A
 ClinVar
11g.66211187G>CCA381342117PACS1c.588G>C (p.Arg196Ser)
n.712G>C
c.294G>C (p.Arg98Ser)
c.279G>C (p.Arg93Ser)
c.267G>C (p.Arg89Ser)
c.258G>C (p.Arg86Ser)
c.249G>C (p.Arg83Ser)
n.799G>C
11g.66211187G>TCA381342119PACS1c.588G>T (p.Arg196Ser)
n.712G>T
c.294G>T (p.Arg98Ser)
c.279G>T (p.Arg93Ser)
c.267G>T (p.Arg89Ser)
c.258G>T (p.Arg86Ser)
c.249G>T (p.Arg83Ser)
n.799G>T
11g.66211188A>CCA475300188PACS1c.589A>C (p.Arg197=)
n.713A>C
c.295A>C (p.Arg99=)
c.280A>C (p.Arg94=)
c.268A>C (p.Arg90=)
c.259A>C (p.Arg87=)
c.250A>C (p.Arg84=)
n.800A>C
11g.66211188A>GCA381342129PACS1c.589A>G (p.Arg197Gly)
n.713A>G
c.295A>G (p.Arg99Gly)
c.280A>G (p.Arg94Gly)
c.268A>G (p.Arg90Gly)
c.259A>G (p.Arg87Gly)
c.250A>G (p.Arg84Gly)
n.800A>G
11g.66211188A>TCA381342137PACS1c.589A>T (p.Arg197Ter)
n.713A>T
c.295A>T (p.Arg99Ter)
c.280A>T (p.Arg94Ter)
c.268A>T (p.Arg90Ter)
c.259A>T (p.Arg87Ter)
c.250A>T (p.Arg84Ter)
n.800A>T
11g.66211189G>ACA381342143PACS1c.590G>A (p.Arg197Lys)
n.714G>A
c.296G>A (p.Arg99Lys)
c.281G>A (p.Arg94Lys)
c.269G>A (p.Arg90Lys)
c.260G>A (p.Arg87Lys)
c.251G>A (p.Arg84Lys)
n.801G>A
11g.66211189G>CCA381342147PACS1c.590G>C (p.Arg197Thr)
n.714G>C
c.296G>C (p.Arg99Thr)
c.281G>C (p.Arg94Thr)
c.269G>C (p.Arg90Thr)
c.260G>C (p.Arg87Thr)
c.251G>C (p.Arg84Thr)
n.801G>C
11g.66211189G>TCA381342156PACS1c.590G>T (p.Arg197Ile)
n.714G>T
c.296G>T (p.Arg99Ile)
c.281G>T (p.Arg94Ile)
c.269G>T (p.Arg90Ile)
c.260G>T (p.Arg87Ile)
c.251G>T (p.Arg84Ile)
n.801G>T
11g.66211190A=CA1979579357PACS1c.591A= (p.Arg197=)
n.715A=
c.297A= (p.Arg99=)
c.282A= (p.Arg94=)
c.270A= (p.Arg90=)
c.261A= (p.Arg87=)
c.252A= (p.Arg84=)
n.802A=
11g.66211190A>CCA381342159PACS1c.591A>C (p.Arg197Ser)
n.715A>C
c.297A>C (p.Arg99Ser)
c.282A>C (p.Arg94Ser)
c.270A>C (p.Arg90Ser)
c.261A>C (p.Arg87Ser)
c.252A>C (p.Arg84Ser)
n.802A>C
11g.66211190A>GCA475300208PACS1c.591A>G (p.Arg197=)
n.715A>G
c.297A>G (p.Arg99=)
c.282A>G (p.Arg94=)
c.270A>G (p.Arg90=)
c.261A>G (p.Arg87=)
c.252A>G (p.Arg84=)
n.802A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66211190A>TCA381342160PACS1c.591A>T (p.Arg197Ser)
n.715A>T
c.297A>T (p.Arg99Ser)
c.282A>T (p.Arg94Ser)
c.270A>T (p.Arg90Ser)
c.261A>T (p.Arg87Ser)
c.252A>T (p.Arg84Ser)
n.802A>T
11g.66211191A>CCA381342185PACS1c.592A>C (p.Lys198Gln)
n.716A>C
c.298A>C (p.Lys100Gln)
c.283A>C (p.Lys95Gln)
c.271A>C (p.Lys91Gln)
c.262A>C (p.Lys88Gln)
c.253A>C (p.Lys85Gln)
n.803A>C
11g.66211191A>GCA381342170PACS1c.592A>G (p.Lys198Glu)
n.716A>G
c.298A>G (p.Lys100Glu)
c.283A>G (p.Lys95Glu)
c.271A>G (p.Lys91Glu)
c.262A>G (p.Lys88Glu)
c.253A>G (p.Lys85Glu)
n.803A>G
11g.66211191A>TCA381342180PACS1c.592A>T (p.Lys198Ter)
n.716A>T
c.298A>T (p.Lys100Ter)
c.283A>T (p.Lys95Ter)
c.271A>T (p.Lys91Ter)
c.262A>T (p.Lys88Ter)
c.253A>T (p.Lys85Ter)
n.803A>T
11g.66211192A>CCA381342193PACS1c.593A>C (p.Lys198Thr)
n.717A>C
c.299A>C (p.Lys100Thr)
c.284A>C (p.Lys95Thr)
c.272A>C (p.Lys91Thr)
c.263A>C (p.Lys88Thr)
c.254A>C (p.Lys85Thr)
n.804A>C
11g.66211192A>GCA381342199PACS1c.593A>G (p.Lys198Arg)
n.717A>G
c.299A>G (p.Lys100Arg)
c.284A>G (p.Lys95Arg)
c.272A>G (p.Lys91Arg)
c.263A>G (p.Lys88Arg)
c.254A>G (p.Lys85Arg)
n.804A>G
11g.66211192A>TCA381342209PACS1c.593A>T (p.Lys198Ile)
n.717A>T
c.299A>T (p.Lys100Ile)
c.284A>T (p.Lys95Ile)
c.272A>T (p.Lys91Ile)
c.263A>T (p.Lys88Ile)
c.254A>T (p.Lys85Ile)
n.804A>T
11g.66211193A>CCA381342215PACS1c.594A>C (p.Lys198Asn)
n.718A>C
c.300A>C (p.Lys100Asn)
c.285A>C (p.Lys95Asn)
c.273A>C (p.Lys91Asn)
c.264A>C (p.Lys88Asn)
c.255A>C (p.Lys85Asn)
n.805A>C
11g.66211193A>GCA475300235PACS1c.594A>G (p.Lys198=)
n.718A>G
c.300A>G (p.Lys100=)
c.285A>G (p.Lys95=)
c.273A>G (p.Lys91=)
c.264A>G (p.Lys88=)
c.255A>G (p.Lys85=)
n.805A>G
 gnomAD v3 gnomAD v4
11g.66211193A>TCA381342217PACS1c.594A>T (p.Lys198Asn)
n.718A>T
c.300A>T (p.Lys100Asn)
c.285A>T (p.Lys95Asn)
c.273A>T (p.Lys91Asn)
c.264A>T (p.Lys88Asn)
c.255A>T (p.Lys85Asn)
n.805A>T
11g.66211194C>ACA381342219PACS1c.595C>A (p.Arg199Ser)
n.719C>A
c.301C>A (p.Arg101Ser)
c.286C>A (p.Arg96Ser)
c.274C>A (p.Arg92Ser)
c.265C>A (p.Arg89Ser)
c.256C>A (p.Arg86Ser)
n.806C>A
11g.66211194C=CA1979579360PACS1c.595C= (p.Arg199=)
n.719C=
c.301C= (p.Arg101=)
c.286C= (p.Arg96=)
c.274C= (p.Arg92=)
c.265C= (p.Arg89=)
c.256C= (p.Arg86=)
n.806C=
11g.66211194C>GCA381342224PACS1c.595C>G (p.Arg199Gly)
n.719C>G
c.301C>G (p.Arg101Gly)
c.286C>G (p.Arg96Gly)
c.274C>G (p.Arg92Gly)
c.265C>G (p.Arg89Gly)
c.256C>G (p.Arg86Gly)
n.806C>G
11g.66211194C>TCA381342237PACS1c.595C>T (p.Arg199Cys)
n.719C>T
c.301C>T (p.Arg101Cys)
c.286C>T (p.Arg96Cys)
c.274C>T (p.Arg92Cys)
c.265C>T (p.Arg89Cys)
c.256C>T (p.Arg86Cys)
n.806C>T
 dbSNP gnomAD v2 gnomAD v4
11g.66211195G>ACA381342243PACS1c.596G>A (p.Arg199His)
n.720G>A
c.302G>A (p.Arg101His)
c.287G>A (p.Arg96His)
c.275G>A (p.Arg92His)
c.266G>A (p.Arg89His)
c.257G>A (p.Arg86His)
n.807G>A
 COSMIC
11g.66211195G>CCA381342245PACS1c.596G>C (p.Arg199Pro)
n.720G>C
c.302G>C (p.Arg101Pro)
c.287G>C (p.Arg96Pro)
c.275G>C (p.Arg92Pro)
c.266G>C (p.Arg89Pro)
c.257G>C (p.Arg86Pro)
n.807G>C
11g.66211195G>TCA381342247PACS1c.596G>T (p.Arg199Leu)
n.720G>T
c.302G>T (p.Arg101Leu)
c.287G>T (p.Arg96Leu)
c.275G>T (p.Arg92Leu)
c.266G>T (p.Arg89Leu)
c.257G>T (p.Arg86Leu)
n.807G>T
11g.66211196T>ACA475300255PACS1c.597T>A (p.Arg199=)
n.721T>A
c.303T>A (p.Arg101=)
c.288T>A (p.Arg96=)
c.276T>A (p.Arg92=)
c.267T>A (p.Arg89=)
c.258T>A (p.Arg86=)
n.808T>A
11g.66211196T>CCA475300258PACS1c.597T>C (p.Arg199=)
n.721T>C
c.303T>C (p.Arg101=)
c.288T>C (p.Arg96=)
c.276T>C (p.Arg92=)
c.267T>C (p.Arg89=)
c.258T>C (p.Arg86=)
n.808T>C
11g.66211196T>GCA475300264PACS1c.597T>G (p.Arg199=)
n.721T>G
c.303T>G (p.Arg101=)
c.288T>G (p.Arg96=)
c.276T>G (p.Arg92=)
c.267T>G (p.Arg89=)
c.258T>G (p.Arg86=)
n.808T>G
11g.66211197T>ACA381342251PACS1c.598T>A (p.Tyr200Asn)
n.722T>A
c.304T>A (p.Tyr102Asn)
c.289T>A (p.Tyr97Asn)
c.277T>A (p.Tyr93Asn)
c.268T>A (p.Tyr90Asn)
c.259T>A (p.Tyr87Asn)
n.809T>A
11g.66211197T>CCA381342252PACS1c.598T>C (p.Tyr200His)
n.722T>C
c.304T>C (p.Tyr102His)
c.289T>C (p.Tyr97His)
c.277T>C (p.Tyr93His)
c.268T>C (p.Tyr90His)
c.259T>C (p.Tyr87His)
n.809T>C
11g.66211197T>GCA381342250PACS1c.598T>G (p.Tyr200Asp)
n.722T>G
c.304T>G (p.Tyr102Asp)
c.289T>G (p.Tyr97Asp)
c.277T>G (p.Tyr93Asp)
c.268T>G (p.Tyr90Asp)
c.259T>G (p.Tyr87Asp)
n.809T>G
11g.66211198A>CCA381342258PACS1c.599A>C (p.Tyr200Ser)
n.723A>C
c.305A>C (p.Tyr102Ser)
c.290A>C (p.Tyr97Ser)
c.278A>C (p.Tyr93Ser)
c.269A>C (p.Tyr90Ser)
c.260A>C (p.Tyr87Ser)
n.810A>C
11g.66211198A>GCA381342273PACS1c.599A>G (p.Tyr200Cys)
n.723A>G
c.305A>G (p.Tyr102Cys)
c.290A>G (p.Tyr97Cys)
c.278A>G (p.Tyr93Cys)
c.269A>G (p.Tyr90Cys)
c.260A>G (p.Tyr87Cys)
n.810A>G
11g.66211198A>TCA381342274PACS1c.599A>T (p.Tyr200Phe)
n.723A>T
c.305A>T (p.Tyr102Phe)
c.290A>T (p.Tyr97Phe)
c.278A>T (p.Tyr93Phe)
c.269A>T (p.Tyr90Phe)
c.260A>T (p.Tyr87Phe)
n.810A>T
11g.66211199C>ACA381342275PACS1c.600C>A (p.Tyr200Ter)
n.724C>A
c.306C>A (p.Tyr102Ter)
c.291C>A (p.Tyr97Ter)
c.279C>A (p.Tyr93Ter)
c.270C>A (p.Tyr90Ter)
c.261C>A (p.Tyr87Ter)
n.811C>A
 gnomAD v4
11g.66211199C>GCA381342276PACS1c.600C>G (p.Tyr200Ter)
n.724C>G
c.306C>G (p.Tyr102Ter)
c.291C>G (p.Tyr97Ter)
c.279C>G (p.Tyr93Ter)
c.270C>G (p.Tyr90Ter)
c.261C>G (p.Tyr87Ter)
n.811C>G
11g.66211199C>TCA475300286PACS1c.600C>T (p.Tyr200=)
n.724C>T
c.306C>T (p.Tyr102=)
c.291C>T (p.Tyr97=)
c.279C>T (p.Tyr93=)
c.270C>T (p.Tyr90=)
c.261C>T (p.Tyr87=)
n.811C>T
 ClinVar gnomAD v4
11g.66211200A>CCA381342278PACS1c.601A>C (p.Lys201Gln)
n.725A>C
c.307A>C (p.Lys103Gln)
c.292A>C (p.Lys98Gln)
c.280A>C (p.Lys94Gln)
c.271A>C (p.Lys91Gln)
c.262A>C (p.Lys88Gln)
n.812A>C
11g.66211200A>GCA381342287PACS1c.601A>G (p.Lys201Glu)
n.725A>G
c.307A>G (p.Lys103Glu)
c.292A>G (p.Lys98Glu)
c.280A>G (p.Lys94Glu)
c.271A>G (p.Lys91Glu)
c.262A>G (p.Lys88Glu)
n.812A>G
11g.66211200A>TCA381342289PACS1c.601A>T (p.Lys201Ter)
n.725A>T
c.307A>T (p.Lys103Ter)
c.292A>T (p.Lys98Ter)
c.280A>T (p.Lys94Ter)
c.271A>T (p.Lys91Ter)
c.262A>T (p.Lys88Ter)
n.812A>T
11g.66211201A>CCA381342301PACS1c.602A>C (p.Lys201Thr)
n.726A>C
c.308A>C (p.Lys103Thr)
c.293A>C (p.Lys98Thr)
c.281A>C (p.Lys94Thr)
c.272A>C (p.Lys91Thr)
c.263A>C (p.Lys88Thr)
n.813A>C
11g.66211201A>GCA381342304PACS1c.602A>G (p.Lys201Arg)
n.726A>G
c.308A>G (p.Lys103Arg)
c.293A>G (p.Lys98Arg)
c.281A>G (p.Lys94Arg)
c.272A>G (p.Lys91Arg)
c.263A>G (p.Lys88Arg)
n.813A>G
11g.66211201A>TCA381342308PACS1c.602A>T (p.Lys201Met)
n.726A>T
c.308A>T (p.Lys103Met)
c.293A>T (p.Lys98Met)
c.281A>T (p.Lys94Met)
c.272A>T (p.Lys91Met)
c.263A>T (p.Lys88Met)
n.813A>T
11g.66211202G>ACA475300308PACS1c.603G>A (p.Lys201=)
n.727G>A
c.309G>A (p.Lys103=)
c.294G>A (p.Lys98=)
c.282G>A (p.Lys94=)
c.273G>A (p.Lys91=)
c.264G>A (p.Lys88=)
n.814G>A
 COSMIC
11g.66211202G>CCA381342318PACS1c.603G>C (p.Lys201Asn)
n.727G>C
c.309G>C (p.Lys103Asn)
c.294G>C (p.Lys98Asn)
c.282G>C (p.Lys94Asn)
c.273G>C (p.Lys91Asn)
c.264G>C (p.Lys88Asn)
n.814G>C
11g.66211202G>TCA381342329PACS1c.603G>T (p.Lys201Asn)
n.727G>T
c.309G>T (p.Lys103Asn)
c.294G>T (p.Lys98Asn)
c.282G>T (p.Lys94Asn)
c.273G>T (p.Lys91Asn)
c.264G>T (p.Lys88Asn)
n.814G>T
11g.66211202_66211203delinsGACA1979579363PACS1c.603_604delinsGA (p.Lys201=)
n.727_728delinsGA
c.309_310delinsGA (p.Lys103=)
c.294_295delinsGA (p.Lys98=)
c.282_283delinsGA (p.Lys94=)
c.273_274delinsGA (p.Lys91=)
c.264_265delinsGA (p.Lys88=)
n.814_815delinsGA
11g.66211203A>CCA381342337PACS1c.604A>C (p.Asn202His)
n.728A>C
c.310A>C (p.Asn104His)
c.295A>C (p.Asn99His)
c.283A>C (p.Asn95His)
c.274A>C (p.Asn92His)
c.265A>C (p.Asn89His)
n.815A>C
11g.66211203A>GCA381342332PACS1c.604A>G (p.Asn202Asp)
n.728A>G
c.310A>G (p.Asn104Asp)
c.295A>G (p.Asn99Asp)
c.283A>G (p.Asn95Asp)
c.274A>G (p.Asn92Asp)
c.265A>G (p.Asn89Asp)
n.815A>G
11g.66211203A>TCA381342331PACS1c.604A>T (p.Asn202Tyr)
n.728A>T
c.310A>T (p.Asn104Tyr)
c.295A>T (p.Asn99Tyr)
c.283A>T (p.Asn95Tyr)
c.274A>T (p.Asn92Tyr)
c.265A>T (p.Asn89Tyr)
n.815A>T
11g.66211204delCA599856241PACS1c.605del (p.Asn202IlefsTer20)
n.729del
c.311del (p.Asn104IlefsTer20)
c.296del (p.Asn99IlefsTer?)
c.284del (p.Asn95IlefsTer20)
c.275del (p.Asn92IlefsTer20)
c.266del (p.Asn89IlefsTer20)
n.816del
 dbSNP gnomAD v2
11g.66211204A>CCA381342362PACS1c.605A>C (p.Asn202Thr)
n.729A>C
c.311A>C (p.Asn104Thr)
c.296A>C (p.Asn99Thr)
c.284A>C (p.Asn95Thr)
c.275A>C (p.Asn92Thr)
c.266A>C (p.Asn89Thr)
n.816A>C
11g.66211204A>GCA381342380PACS1c.605A>G (p.Asn202Ser)
n.729A>G
c.311A>G (p.Asn104Ser)
c.296A>G (p.Asn99Ser)
c.284A>G (p.Asn95Ser)
c.275A>G (p.Asn92Ser)
c.266A>G (p.Asn89Ser)
n.816A>G
11g.66211204A>TCA381342390PACS1c.605A>T (p.Asn202Ile)
n.729A>T
c.311A>T (p.Asn104Ile)
c.296A>T (p.Asn99Ile)
c.284A>T (p.Asn95Ile)
c.275A>T (p.Asn92Ile)
c.266A>T (p.Asn89Ile)
n.816A>T
11g.66211205T>ACA381342391PACS1c.606T>A (p.Asn202Lys)
n.730T>A
c.312T>A (p.Asn104Lys)
c.297T>A (p.Asn99Lys)
c.285T>A (p.Asn95Lys)
c.276T>A (p.Asn92Lys)
c.267T>A (p.Asn89Lys)
n.817T>A
11g.66211205T>CCA475300337PACS1c.606T>C (p.Asn202=)
n.730T>C
c.312T>C (p.Asn104=)
c.297T>C (p.Asn99=)
c.285T>C (p.Asn95=)
c.276T>C (p.Asn92=)
c.267T>C (p.Asn89=)
n.817T>C
11g.66211205T>GCA381342392PACS1c.606T>G (p.Asn202Lys)
n.730T>G
c.312T>G (p.Asn104Lys)
c.297T>G (p.Asn99Lys)
c.285T>G (p.Asn95Lys)
c.276T>G (p.Asn92Lys)
c.267T>G (p.Asn89Lys)
n.817T>G
11g.66211206C>ACA475300343PACS1c.607C>A (p.Arg203=)
n.731C>A
c.313C>A (p.Arg105=)
c.298C>A (p.Arg100=)
c.286C>A (p.Arg96=)
c.277C>A (p.Arg93=)
c.268C>A (p.Arg90=)
n.818C>A
11g.66211206C=CA1979579370PACS1c.607C= (p.Arg203=)
n.731C=
c.313C= (p.Arg105=)
c.298C= (p.Arg100=)
c.286C= (p.Arg96=)
c.277C= (p.Arg93=)
c.268C= (p.Arg90=)
n.818C=
11g.66211206C>GCA381342398PACS1c.607C>G (p.Arg203Gly)
n.731C>G
c.313C>G (p.Arg105Gly)
c.298C>G (p.Arg100Gly)
c.286C>G (p.Arg96Gly)
c.277C>G (p.Arg93Gly)
c.268C>G (p.Arg90Gly)
n.818C>G
11g.66211206C>TCA204795PACS1c.607C>T (p.Arg203Trp)
n.731C>T
c.313C>T (p.Arg105Trp)
c.298C>T (p.Arg100Trp)
c.286C>T (p.Arg96Trp)
c.277C>T (p.Arg93Trp)
c.268C>T (p.Arg90Trp)
n.818C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched