Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.67350229C>ACA400805395PSMD12c.405G>T (p.Lys135Asn)
c.345G>T (p.Lys115Asn)
c.*560G>T (n.*560G>T)
n.454G>T
c.228G>T (p.Lys76Asn)
c.492G>T (p.Lys164Asn)
n.484G>T
 gnomAD v4
17g.67350229C>GCA400805396PSMD12c.405G>C (p.Lys135Asn)
c.345G>C (p.Lys115Asn)
c.*560G>C (n.*560G>C)
n.454G>C
c.228G>C (p.Lys76Asn)
c.492G>C (p.Lys164Asn)
n.484G>C
17g.67350229C>TCA501602487PSMD12c.405G>A (p.Lys135=)
c.345G>A (p.Lys115=)
c.*560G>A (n.*560G>A)
n.454G>A
c.228G>A (p.Lys76=)
c.492G>A (p.Lys164=)
n.484G>A
17g.67350230T>ACA400805397PSMD12c.404A>T (p.Lys135Met)
c.344A>T (p.Lys115Met)
c.*559A>T (n.*559A>T)
n.453A>T
c.227A>T (p.Lys76Met)
c.491A>T (p.Lys164Met)
n.483A>T
17g.67350230T>CCA400805398PSMD12c.404A>G (p.Lys135Arg)
c.344A>G (p.Lys115Arg)
c.*559A>G (n.*559A>G)
n.453A>G
c.227A>G (p.Lys76Arg)
c.491A>G (p.Lys164Arg)
n.483A>G
17g.67350230T>GCA400805399PSMD12c.404A>C (p.Lys135Thr)
c.344A>C (p.Lys115Thr)
c.*559A>C (n.*559A>C)
n.453A>C
c.227A>C (p.Lys76Thr)
c.491A>C (p.Lys164Thr)
n.483A>C
17g.67350231T>ACA400805400PSMD12c.403A>T (p.Lys135Ter)
c.343A>T (p.Lys115Ter)
c.*558A>T (n.*558A>T)
n.452A>T
c.226A>T (p.Lys76Ter)
c.490A>T (p.Lys164Ter)
n.482A>T
17g.67350231T>CCA400805401PSMD12c.403A>G (p.Lys135Glu)
c.343A>G (p.Lys115Glu)
c.*558A>G (n.*558A>G)
n.452A>G
c.226A>G (p.Lys76Glu)
c.490A>G (p.Lys164Glu)
n.482A>G
17g.67350231T>GCA400805402PSMD12c.403A>C (p.Lys135Gln)
c.343A>C (p.Lys115Gln)
c.*558A>C (n.*558A>C)
n.452A>C
c.226A>C (p.Lys76Gln)
c.490A>C (p.Lys164Gln)
n.482A>C
17g.67350232G>ACA501602488PSMD12c.402C>T (p.Gly134=)
c.342C>T (p.Gly114=)
c.*557C>T (n.*557C>T)
n.451C>T
c.225C>T (p.Gly75=)
c.489C>T (p.Gly163=)
n.481C>T
17g.67350232G>CCA501602489PSMD12c.402C>G (p.Gly134=)
c.342C>G (p.Gly114=)
c.*557C>G (n.*557C>G)
n.451C>G
c.225C>G (p.Gly75=)
c.489C>G (p.Gly163=)
n.481C>G
17g.67350232G=CA2271700366PSMD12c.402C= (p.Gly134=)
c.342C= (p.Gly114=)
c.*557C= (n.*557C=)
n.451C=
c.225C= (p.Gly75=)
c.489C= (p.Gly163=)
n.481C=
17g.67350232G>TCA8723770PSMD12c.402C>A (p.Gly134=)
c.342C>A (p.Gly114=)
c.*557C>A (n.*557C>A)
n.451C>A
c.225C>A (p.Gly75=)
c.489C>A (p.Gly163=)
n.481C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.67350233C>ACA400805403PSMD12c.401G>T (p.Gly134Val)
c.341G>T (p.Gly114Val)
c.*556G>T (n.*556G>T)
n.450G>T
c.224G>T (p.Gly75Val)
c.488G>T (p.Gly163Val)
n.480G>T
17g.67350233C>GCA400805404PSMD12c.401G>C (p.Gly134Ala)
c.341G>C (p.Gly114Ala)
c.*556G>C (n.*556G>C)
n.450G>C
c.224G>C (p.Gly75Ala)
c.488G>C (p.Gly163Ala)
n.480G>C
17g.67350233C>TCA400805405PSMD12c.401G>A (p.Gly134Asp)
c.341G>A (p.Gly114Asp)
c.*556G>A (n.*556G>A)
n.450G>A
c.224G>A (p.Gly75Asp)
c.488G>A (p.Gly163Asp)
n.480G>A
17g.67350234C>ACA400805406PSMD12c.400G>T (p.Gly134Cys)
c.340G>T (p.Gly114Cys)
c.*555G>T (n.*555G>T)
n.449G>T
c.223G>T (p.Gly75Cys)
c.487G>T (p.Gly163Cys)
n.479G>T
17g.67350234C>GCA400805408PSMD12c.400G>C (p.Gly134Arg)
c.340G>C (p.Gly114Arg)
c.*555G>C (n.*555G>C)
n.449G>C
c.223G>C (p.Gly75Arg)
c.487G>C (p.Gly163Arg)
n.479G>C
17g.67350234C>TCA400805407PSMD12c.400G>A (p.Gly134Ser)
c.340G>A (p.Gly114Ser)
c.*555G>A (n.*555G>A)
n.449G>A
c.223G>A (p.Gly75Ser)
c.487G>A (p.Gly163Ser)
n.479G>A
 dbSNP gnomAD v4
17g.67350235T>ACA400805409PSMD12c.399A>T (p.Glu133Asp)
c.339A>T (p.Glu113Asp)
c.*554A>T (n.*554A>T)
n.448A>T
c.222A>T (p.Glu74Asp)
c.486A>T (p.Glu162Asp)
n.478A>T
17g.67350235T>CCA501602490PSMD12c.399A>G (p.Glu133=)
c.339A>G (p.Glu113=)
c.*554A>G (n.*554A>G)
n.448A>G
c.222A>G (p.Glu74=)
c.486A>G (p.Glu162=)
n.478A>G
 COSMIC
17g.67350235T>GCA400805410PSMD12c.399A>C (p.Glu133Asp)
c.339A>C (p.Glu113Asp)
c.*554A>C (n.*554A>C)
n.448A>C
c.222A>C (p.Glu74Asp)
c.486A>C (p.Glu162Asp)
n.478A>C
17g.67350236delCA2639451148PSMD12c.399del (p.Gly134AlafsTer12)
c.339del (p.Gly114AlafsTer12)
c.*554del (n.*554del)
n.448del
c.222del (p.Gly75AlafsTer12)
c.486del (p.Gly163AlafsTer12)
n.478del
 gnomAD v4
17g.67350236T>ACA400805411PSMD12c.398A>T (p.Glu133Val)
c.338A>T (p.Glu113Val)
c.*553A>T (n.*553A>T)
n.447A>T
c.221A>T (p.Glu74Val)
c.485A>T (p.Glu162Val)
n.477A>T
17g.67350236T>CCA400805412PSMD12c.398A>G (p.Glu133Gly)
c.338A>G (p.Glu113Gly)
c.*553A>G (n.*553A>G)
n.447A>G
c.221A>G (p.Glu74Gly)
c.485A>G (p.Glu162Gly)
n.477A>G
17g.67350236T>GCA400805413PSMD12c.398A>C (p.Glu133Ala)
c.338A>C (p.Glu113Ala)
c.*553A>C (n.*553A>C)
n.447A>C
c.221A>C (p.Glu74Ala)
c.485A>C (p.Glu162Ala)
n.477A>C
17g.67350237C>ACA400805414PSMD12c.397G>T (p.Glu133Ter)
c.337G>T (p.Glu113Ter)
c.*552G>T (n.*552G>T)
n.446G>T
c.220G>T (p.Glu74Ter)
c.484G>T (p.Glu162Ter)
n.476G>T
 gnomAD v4
17g.67350237C=CA2271700367PSMD12c.397G= (p.Glu133=)
c.337G= (p.Glu113=)
c.*552G= (n.*552G=)
n.446G=
c.220G= (p.Glu74=)
c.484G= (p.Glu162=)
n.476G=
17g.67350237C>GCA400805415PSMD12c.397G>C (p.Glu133Gln)
c.337G>C (p.Glu113Gln)
c.*552G>C (n.*552G>C)
n.446G>C
c.220G>C (p.Glu74Gln)
c.484G>C (p.Glu162Gln)
n.476G>C
17g.67350237C>TCA293539550PSMD12c.397G>A (p.Glu133Lys)
c.337G>A (p.Glu113Lys)
c.*552G>A (n.*552G>A)
n.446G>A
c.220G>A (p.Glu74Lys)
c.484G>A (p.Glu162Lys)
n.476G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.67350238G>ACA8723771PSMD12c.396C>T (p.Thr132=)
c.336C>T (p.Thr112=)
c.*551C>T (n.*551C>T)
n.445C>T
c.219C>T (p.Thr73=)
c.483C>T (p.Thr161=)
n.475C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.67350238G>CCA501602491PSMD12c.396C>G (p.Thr132=)
c.336C>G (p.Thr112=)
c.*551C>G (n.*551C>G)
n.445C>G
c.219C>G (p.Thr73=)
c.483C>G (p.Thr161=)
n.475C>G
17g.67350238G=CA2271700368PSMD12c.396C= (p.Thr132=)
c.336C= (p.Thr112=)
c.*551C= (n.*551C=)
n.445C=
c.219C= (p.Thr73=)
c.483C= (p.Thr161=)
n.475C=
17g.67350238G>TCA501602492PSMD12c.396C>A (p.Thr132=)
c.336C>A (p.Thr112=)
c.*551C>A (n.*551C>A)
n.445C>A
c.219C>A (p.Thr73=)
c.483C>A (p.Thr161=)
n.475C>A
17g.67350239G>ACA400805416PSMD12c.395C>T (p.Thr132Ile)
c.335C>T (p.Thr112Ile)
c.*550C>T (n.*550C>T)
n.444C>T
c.218C>T (p.Thr73Ile)
c.482C>T (p.Thr161Ile)
n.474C>T
 dbSNP gnomAD v2 gnomAD v4
17g.67350239G>CCA400805417PSMD12c.395C>G (p.Thr132Ser)
c.335C>G (p.Thr112Ser)
c.*550C>G (n.*550C>G)
n.444C>G
c.218C>G (p.Thr73Ser)
c.482C>G (p.Thr161Ser)
n.474C>G
17g.67350239G=CA2271700369PSMD12c.395C= (p.Thr132=)
c.335C= (p.Thr112=)
c.*550C= (n.*550C=)
n.444C=
c.218C= (p.Thr73=)
c.482C= (p.Thr161=)
n.474C=
17g.67350239G>TCA400805418PSMD12c.395C>A (p.Thr132Asn)
c.335C>A (p.Thr112Asn)
c.*550C>A (n.*550C>A)
n.444C>A
c.218C>A (p.Thr73Asn)
c.482C>A (p.Thr161Asn)
n.474C>A
17g.67350240T>ACA400805421PSMD12c.394A>T (p.Thr132Ser)
c.334A>T (p.Thr112Ser)
c.*549A>T (n.*549A>T)
n.443A>T
c.217A>T (p.Thr73Ser)
c.481A>T (p.Thr161Ser)
n.473A>T
17g.67350240T>CCA400805419PSMD12c.394A>G (p.Thr132Ala)
c.334A>G (p.Thr112Ala)
c.*549A>G (n.*549A>G)
n.443A>G
c.217A>G (p.Thr73Ala)
c.481A>G (p.Thr161Ala)
n.473A>G
17g.67350240T>GCA400805420PSMD12c.394A>C (p.Thr132Pro)
c.334A>C (p.Thr112Pro)
c.*549A>C (n.*549A>C)
n.443A>C
c.217A>C (p.Thr73Pro)
c.481A>C (p.Thr161Pro)
n.473A>C
17g.67350241A>CCA501602493PSMD12c.393T>G (p.Val131=)
c.333T>G (p.Val111=)
c.*548T>G (n.*548T>G)
n.442T>G
c.216T>G (p.Val72=)
c.480T>G (p.Val160=)
n.472T>G
17g.67350241A>GCA501602495PSMD12c.393T>C (p.Val131=)
c.333T>C (p.Val111=)
c.*548T>C (n.*548T>C)
n.442T>C
c.216T>C (p.Val72=)
c.480T>C (p.Val160=)
n.472T>C
17g.67350241A>TCA501602494PSMD12c.393T>A (p.Val131=)
c.333T>A (p.Val111=)
c.*548T>A (n.*548T>A)
n.442T>A
c.216T>A (p.Val72=)
c.480T>A (p.Val160=)
n.472T>A
17g.67350242A>CCA400805422PSMD12c.392T>G (p.Val131Gly)
c.332T>G (p.Val111Gly)
c.*547T>G (n.*547T>G)
n.441T>G
c.215T>G (p.Val72Gly)
c.479T>G (p.Val160Gly)
n.471T>G
17g.67350242A>GCA400805423PSMD12c.392T>C (p.Val131Ala)
c.332T>C (p.Val111Ala)
c.*547T>C (n.*547T>C)
n.441T>C
c.215T>C (p.Val72Ala)
c.479T>C (p.Val160Ala)
n.471T>C
17g.67350242A>TCA400805424PSMD12c.392T>A (p.Val131Asp)
c.332T>A (p.Val111Asp)
c.*547T>A (n.*547T>A)
n.441T>A
c.215T>A (p.Val72Asp)
c.479T>A (p.Val160Asp)
n.471T>A
17g.67350243C>ACA400805425PSMD12c.391G>T (p.Val131Phe)
c.331G>T (p.Val111Phe)
c.*546G>T (n.*546G>T)
n.440G>T
c.214G>T (p.Val72Phe)
c.478G>T (p.Val160Phe)
n.470G>T
 gnomAD v4
17g.67350243C>GCA400805426PSMD12c.391G>C (p.Val131Leu)
c.331G>C (p.Val111Leu)
c.*546G>C (n.*546G>C)
n.440G>C
c.214G>C (p.Val72Leu)
c.478G>C (p.Val160Leu)
n.470G>C
17g.67350243C>TCA400805427PSMD12c.391G>A (p.Val131Ile)
c.331G>A (p.Val111Ile)
c.*546G>A (n.*546G>A)
n.440G>A
c.214G>A (p.Val72Ile)
c.478G>A (p.Val160Ile)
n.470G>A
 dbSNP
17g.67350243_67350244insAGCCA2639451149PSMD12c.391_392insCTG (p.Met130_Val131insAla)
c.331_332insCTG (p.Met110_Val111insAla)
c.*546_*547insCTG (n.*546_*547insCTG)
n.440_441insCTG
c.214_215insCTG (p.Met71_Val72insAla)
c.478_479insCTG (p.Met159_Val160insAla)
n.470_471insCTG
 gnomAD v4
17g.67350244C>ACA400805428PSMD12c.390G>T (p.Met130Ile)
c.330G>T (p.Met110Ile)
c.*545G>T (n.*545G>T)
n.439G>T
c.213G>T (p.Met71Ile)
c.477G>T (p.Met159Ile)
n.469G>T
17g.67350244C=CA2271700370PSMD12c.390G= (p.Met130=)
c.330G= (p.Met110=)
c.*545G= (n.*545G=)
n.439G=
c.213G= (p.Met71=)
c.477G= (p.Met159=)
n.469G=
17g.67350244C>GCA400805429PSMD12c.390G>C (p.Met130Ile)
c.330G>C (p.Met110Ile)
c.*545G>C (n.*545G>C)
n.439G>C
c.213G>C (p.Met71Ile)
c.477G>C (p.Met159Ile)
n.469G>C
17g.67350244C>TCA400805430PSMD12c.390G>A (p.Met130Ile)
c.330G>A (p.Met110Ile)
c.*545G>A (n.*545G>A)
n.439G>A
c.213G>A (p.Met71Ile)
c.477G>A (p.Met159Ile)
n.469G>A
 dbSNP gnomAD v3 gnomAD v4
17g.67350245A=CA2271700371PSMD12c.389T= (p.Met130=)
c.329T= (p.Met110=)
c.*544T= (n.*544T=)
n.438T=
c.212T= (p.Met71=)
c.476T= (p.Met159=)
n.468T=
17g.67350245A>CCA400805431PSMD12c.389T>G (p.Met130Arg)
c.329T>G (p.Met110Arg)
c.*544T>G (n.*544T>G)
n.438T>G
c.212T>G (p.Met71Arg)
c.476T>G (p.Met159Arg)
n.468T>G
 dbSNP gnomAD v2
17g.67350245A>GCA400805432PSMD12c.389T>C (p.Met130Thr)
c.329T>C (p.Met110Thr)
c.*544T>C (n.*544T>C)
n.438T>C
c.212T>C (p.Met71Thr)
c.476T>C (p.Met159Thr)
n.468T>C
17g.67350245A>TCA400805434PSMD12c.389T>A (p.Met130Lys)
c.329T>A (p.Met110Lys)
c.*544T>A (n.*544T>A)
n.438T>A
c.212T>A (p.Met71Lys)
c.476T>A (p.Met159Lys)
n.468T>A
17g.67350246T>ACA400805436PSMD12c.388A>T (p.Met130Leu)
c.328A>T (p.Met110Leu)
c.*543A>T (n.*543A>T)
n.437A>T
c.211A>T (p.Met71Leu)
c.475A>T (p.Met159Leu)
n.467A>T
17g.67350246T>CCA400805437PSMD12c.388A>G (p.Met130Val)
c.328A>G (p.Met110Val)
c.*543A>G (n.*543A>G)
n.437A>G
c.211A>G (p.Met71Val)
c.475A>G (p.Met159Val)
n.467A>G
 dbSNP gnomAD v2 gnomAD v4
17g.67350246T>GCA400805435PSMD12c.388A>C (p.Met130Leu)
c.328A>C (p.Met110Leu)
c.*543A>C (n.*543A>C)
n.437A>C
c.211A>C (p.Met71Leu)
c.475A>C (p.Met159Leu)
n.467A>C
17g.67350246T=CA2271700372PSMD12c.388A= (p.Met130=)
c.328A= (p.Met110=)
c.*543A= (n.*543A=)
n.437A=
c.211A= (p.Met71=)
c.475A= (p.Met159=)
n.467A=
17g.67350247T>ACA501602498PSMD12c.387A>T (p.Arg129=)
c.327A>T (p.Arg109=)
c.*542A>T (n.*542A>T)
n.436A>T
c.210A>T (p.Arg70=)
c.474A>T (p.Arg158=)
n.466A>T
17g.67350247T>CCA501602497PSMD12c.387A>G (p.Arg129=)
c.327A>G (p.Arg109=)
c.*542A>G (n.*542A>G)
n.436A>G
c.210A>G (p.Arg70=)
c.474A>G (p.Arg158=)
n.466A>G
17g.67350247T>GCA501602496PSMD12c.387A>C (p.Arg129=)
c.327A>C (p.Arg109=)
c.*542A>C (n.*542A>C)
n.436A>C
c.210A>C (p.Arg70=)
c.474A>C (p.Arg158=)
n.466A>C
 dbSNP gnomAD v4
17g.67350247T=CA2271700373PSMD12c.387A= (p.Arg129=)
c.327A= (p.Arg109=)
c.*542A= (n.*542A=)
n.436A=
c.210A= (p.Arg70=)
c.474A= (p.Arg158=)
n.466A=
17g.67350248C>ACA400805439PSMD12c.386G>T (p.Arg129Leu)
c.326G>T (p.Arg109Leu)
c.*541G>T (n.*541G>T)
n.435G>T
c.209G>T (p.Arg70Leu)
c.473G>T (p.Arg158Leu)
n.465G>T
17g.67350248C>GCA400805438PSMD12c.386G>C (p.Arg129Pro)
c.326G>C (p.Arg109Pro)
c.*541G>C (n.*541G>C)
n.435G>C
c.209G>C (p.Arg70Pro)
c.473G>C (p.Arg158Pro)
n.465G>C
17g.67350248C>TCA400805440PSMD12c.386G>A (p.Arg129Gln)
c.326G>A (p.Arg109Gln)
c.*541G>A (n.*541G>A)
n.435G>A
c.209G>A (p.Arg70Gln)
c.473G>A (p.Arg158Gln)
n.465G>A
 dbSNP gnomAD v4
17g.67350249G>ACA400805441PSMD12c.385C>T (p.Arg129Ter)
c.325C>T (p.Arg109Ter)
c.*540C>T (n.*540C>T)
n.434C>T
c.208C>T (p.Arg70Ter)
c.472C>T (p.Arg158Ter)
n.464C>T
 COSMIC
17g.67350249G>CCA400805442PSMD12c.385C>G (p.Arg129Gly)
c.325C>G (p.Arg109Gly)
c.*540C>G (n.*540C>G)
n.434C>G
c.208C>G (p.Arg70Gly)
c.472C>G (p.Arg158Gly)
n.464C>G
17g.67350249G>TCA501602499PSMD12c.385C>A (p.Arg129=)
c.325C>A (p.Arg109=)
c.*540C>A (n.*540C>A)
n.434C>A
c.208C>A (p.Arg70=)
c.472C>A (p.Arg158=)
n.464C>A
17g.67350250T>ACA501602500PSMD12c.384A>T (p.Leu128=)
c.324A>T (p.Leu108=)
c.*539A>T (n.*539A>T)
n.433A>T
c.207A>T (p.Leu69=)
c.471A>T (p.Leu157=)
n.463A>T
17g.67350250T>CCA501602502PSMD12c.384A>G (p.Leu128=)
c.324A>G (p.Leu108=)
c.*539A>G (n.*539A>G)
n.433A>G
c.207A>G (p.Leu69=)
c.471A>G (p.Leu157=)
n.463A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.67350250T>GCA501602501PSMD12c.384A>C (p.Leu128=)
c.324A>C (p.Leu108=)
c.*539A>C (n.*539A>C)
n.433A>C
c.207A>C (p.Leu69=)
c.471A>C (p.Leu157=)
n.463A>C
17g.67350250T=CA2271700374PSMD12c.384A= (p.Leu128=)
c.324A= (p.Leu108=)
c.*539A= (n.*539A=)
n.433A=
c.207A= (p.Leu69=)
c.471A= (p.Leu157=)
n.463A=
17g.67350251A>CCA400805443PSMD12c.383T>G (p.Leu128Arg)
c.323T>G (p.Leu108Arg)
c.*538T>G (n.*538T>G)
n.432T>G
c.206T>G (p.Leu69Arg)
c.470T>G (p.Leu157Arg)
n.462T>G
17g.67350251A>GCA400805444PSMD12c.383T>C (p.Leu128Pro)
c.323T>C (p.Leu108Pro)
c.*538T>C (n.*538T>C)
n.432T>C
c.206T>C (p.Leu69Pro)
c.470T>C (p.Leu157Pro)
n.462T>C
17g.67350251A>TCA400805445PSMD12c.383T>A (p.Leu128Gln)
c.323T>A (p.Leu108Gln)
c.*538T>A (n.*538T>A)
n.432T>A
c.206T>A (p.Leu69Gln)
c.470T>A (p.Leu157Gln)
n.462T>A
17g.67350252G>ACA501602503PSMD12c.382C>T (p.Leu128=)
c.322C>T (p.Leu108=)
c.*537C>T (n.*537C>T)
n.431C>T
c.205C>T (p.Leu69=)
c.469C>T (p.Leu157=)
n.461C>T
17g.67350252G>CCA400805446PSMD12c.382C>G (p.Leu128Val)
c.322C>G (p.Leu108Val)
c.*537C>G (n.*537C>G)
n.431C>G
c.205C>G (p.Leu69Val)
c.469C>G (p.Leu157Val)
n.461C>G
 gnomAD v4
17g.67350252G>TCA400805447PSMD12c.382C>A (p.Leu128Ile)
c.322C>A (p.Leu108Ile)
c.*537C>A (n.*537C>A)
n.431C>A
c.205C>A (p.Leu69Ile)
c.469C>A (p.Leu157Ile)
n.461C>A
17g.67350253A>CCA501602504PSMD12c.381T>G (p.Thr127=)
c.321T>G (p.Thr107=)
c.*536T>G (n.*536T>G)
n.430T>G
c.204T>G (p.Thr68=)
c.468T>G (p.Thr156=)
n.460T>G
17g.67350253A>GCA501602505PSMD12c.381T>C (p.Thr127=)
c.321T>C (p.Thr107=)
c.*536T>C (n.*536T>C)
n.430T>C
c.204T>C (p.Thr68=)
c.468T>C (p.Thr156=)
n.460T>C
17g.67350253A>TCA501602506PSMD12c.381T>A (p.Thr127=)
c.321T>A (p.Thr107=)
c.*536T>A (n.*536T>A)
n.430T>A
c.204T>A (p.Thr68=)
c.468T>A (p.Thr156=)
n.460T>A
17g.67350254G>ACA400805450PSMD12c.380C>T (p.Thr127Ile)
c.320C>T (p.Thr107Ile)
c.*535C>T (n.*535C>T)
n.429C>T
c.203C>T (p.Thr68Ile)
c.467C>T (p.Thr156Ile)
n.459C>T
 gnomAD v4
17g.67350254G>CCA400805448PSMD12c.380C>G (p.Thr127Ser)
c.320C>G (p.Thr107Ser)
c.*535C>G (n.*535C>G)
n.429C>G
c.203C>G (p.Thr68Ser)
c.467C>G (p.Thr156Ser)
n.459C>G
 dbSNP gnomAD v4
17g.67350254G=CA2271700375PSMD12c.380C= (p.Thr127=)
c.320C= (p.Thr107=)
c.*535C= (n.*535C=)
n.429C=
c.203C= (p.Thr68=)
c.467C= (p.Thr156=)
n.459C=
17g.67350254G>TCA400805449PSMD12c.380C>A (p.Thr127Asn)
c.320C>A (p.Thr107Asn)
c.*535C>A (n.*535C>A)
n.429C>A
c.203C>A (p.Thr68Asn)
c.467C>A (p.Thr156Asn)
n.459C>A
17g.67350255T>ACA400805451PSMD12c.379A>T (p.Thr127Ser)
c.319A>T (p.Thr107Ser)
c.*534A>T (n.*534A>T)
n.428A>T
c.202A>T (p.Thr68Ser)
c.466A>T (p.Thr156Ser)
n.458A>T
17g.67350255T>CCA400805452PSMD12c.379A>G (p.Thr127Ala)
c.319A>G (p.Thr107Ala)
c.*534A>G (n.*534A>G)
n.428A>G
c.202A>G (p.Thr68Ala)
c.466A>G (p.Thr156Ala)
n.458A>G
 gnomAD v4
17g.67350255T>GCA400805453PSMD12c.379A>C (p.Thr127Pro)
c.319A>C (p.Thr107Pro)
c.*534A>C (n.*534A>C)
n.428A>C
c.202A>C (p.Thr68Pro)
c.466A>C (p.Thr156Pro)
n.458A>C
17g.67350256A>CCA400805454PSMD12c.378T>G (p.Asp126Glu)
c.318T>G (p.Asp106Glu)
c.*533T>G (n.*533T>G)
n.427T>G
c.201T>G (p.Asp67Glu)
c.465T>G (p.Asp155Glu)
n.457T>G
17g.67350256A>GCA501602507PSMD12c.378T>C (p.Asp126=)
c.318T>C (p.Asp106=)
c.*533T>C (n.*533T>C)
n.427T>C
c.201T>C (p.Asp67=)
c.465T>C (p.Asp155=)
n.457T>C
17g.67350256A>TCA400805455PSMD12c.378T>A (p.Asp126Glu)
c.318T>A (p.Asp106Glu)
c.*533T>A (n.*533T>A)
n.427T>A
c.201T>A (p.Asp67Glu)
c.465T>A (p.Asp155Glu)
n.457T>A
17g.67350257T>ACA400805456PSMD12c.377A>T (p.Asp126Val)
c.317A>T (p.Asp106Val)
c.*532A>T (n.*532A>T)
n.426A>T
c.200A>T (p.Asp67Val)
c.464A>T (p.Asp155Val)
n.456A>T
17g.67350257T>CCA400805458PSMD12c.377A>G (p.Asp126Gly)
c.317A>G (p.Asp106Gly)
c.*532A>G (n.*532A>G)
n.426A>G
c.200A>G (p.Asp67Gly)
c.464A>G (p.Asp155Gly)
n.456A>G
 gnomAD v4
17g.67350257T>GCA400805457PSMD12c.377A>C (p.Asp126Ala)
c.317A>C (p.Asp106Ala)
c.*532A>C (n.*532A>C)
n.426A>C
c.200A>C (p.Asp67Ala)
c.464A>C (p.Asp155Ala)
n.456A>C
17g.67350258C>ACA400805459PSMD12c.376G>T (p.Asp126Tyr)
c.316G>T (p.Asp106Tyr)
n.613G>T
c.*531G>T (n.*531G>T)
n.425G>T
c.199G>T (p.Asp67Tyr)
c.463G>T (p.Asp155Tyr)
n.455G>T
 gnomAD v4
17g.67350258C>GCA400805460PSMD12c.376G>C (p.Asp126His)
c.316G>C (p.Asp106His)
n.613G>C
c.*531G>C (n.*531G>C)
n.425G>C
c.199G>C (p.Asp67His)
c.463G>C (p.Asp155His)
n.455G>C
 gnomAD v4
17g.67350258C>TCA400805461PSMD12c.376G>A (p.Asp126Asn)
c.316G>A (p.Asp106Asn)
n.613G>A
c.*531G>A (n.*531G>A)
n.425G>A
c.199G>A (p.Asp67Asn)
c.463G>A (p.Asp155Asn)
n.455G>A
 COSMIC
17g.67350259A>CCA400805462PSMD12c.375T>G (p.Ile125Met)
c.315T>G (p.Ile105Met)
n.612T>G
c.*530T>G (n.*530T>G)
n.424T>G
c.198T>G (p.Ile66Met)
c.462T>G (p.Ile154Met)
n.454T>G
 gnomAD v4
17g.67350259A>GCA501602508PSMD12c.375T>C (p.Ile125=)
c.315T>C (p.Ile105=)
n.612T>C
c.*530T>C (n.*530T>C)
n.424T>C
c.198T>C (p.Ile66=)
c.462T>C (p.Ile154=)
n.454T>C
17g.67350259A>TCA501602509PSMD12c.375T>A (p.Ile125=)
c.315T>A (p.Ile105=)
n.612T>A
c.*530T>A (n.*530T>A)
n.424T>A
c.198T>A (p.Ile66=)
c.462T>A (p.Ile154=)
n.454T>A
17g.67350260A>CCA400805463PSMD12c.374T>G (p.Ile125Ser)
c.314T>G (p.Ile105Ser)
n.611T>G
c.*529T>G (n.*529T>G)
n.423T>G
c.197T>G (p.Ile66Ser)
c.461T>G (p.Ile154Ser)
n.453T>G
17g.67350260A>GCA400805464PSMD12c.374T>C (p.Ile125Thr)
c.314T>C (p.Ile105Thr)
n.611T>C
c.*529T>C (n.*529T>C)
n.423T>C
c.197T>C (p.Ile66Thr)
c.461T>C (p.Ile154Thr)
n.453T>C
17g.67350260A>TCA400805465PSMD12c.374T>A (p.Ile125Asn)
c.314T>A (p.Ile105Asn)
n.611T>A
c.*529T>A (n.*529T>A)
n.423T>A
c.197T>A (p.Ile66Asn)
c.461T>A (p.Ile154Asn)
n.453T>A
17g.67350261T>ACA400805466PSMD12c.373A>T (p.Ile125Phe)
c.313A>T (p.Ile105Phe)
n.610A>T
c.*528A>T (n.*528A>T)
n.422A>T
c.196A>T (p.Ile66Phe)
c.460A>T (p.Ile154Phe)
n.452A>T
17g.67350261T>CCA400805467PSMD12c.373A>G (p.Ile125Val)
c.313A>G (p.Ile105Val)
n.610A>G
c.*528A>G (n.*528A>G)
n.422A>G
c.196A>G (p.Ile66Val)
c.460A>G (p.Ile154Val)
n.452A>G
17g.67350261T>GCA400805468PSMD12c.373A>C (p.Ile125Leu)
c.313A>C (p.Ile105Leu)
n.610A>C
c.*528A>C (n.*528A>C)
n.422A>C
c.196A>C (p.Ile66Leu)
c.460A>C (p.Ile154Leu)
n.452A>C
17g.67350262T>ACA400805469PSMD12c.372A>T (p.Leu124Phe)
c.312A>T (p.Leu104Phe)
n.609A>T
c.*527A>T (n.*527A>T)
n.421A>T
c.195A>T (p.Leu65Phe)
c.459A>T (p.Leu153Phe)
n.451A>T
17g.67350262T>CCA501602510PSMD12c.372A>G (p.Leu124=)
c.312A>G (p.Leu104=)
n.609A>G
c.*527A>G (n.*527A>G)
n.421A>G
c.195A>G (p.Leu65=)
c.459A>G (p.Leu153=)
n.451A>G
17g.67350262T>GCA400805470PSMD12c.372A>C (p.Leu124Phe)
c.312A>C (p.Leu104Phe)
n.609A>C
c.*527A>C (n.*527A>C)
n.421A>C
c.195A>C (p.Leu65Phe)
c.459A>C (p.Leu153Phe)
n.451A>C
17g.67350263A>CCA400805473PSMD12c.371T>G (p.Leu124Ter)
c.311T>G (p.Leu104Ter)
n.608T>G
c.*526T>G (n.*526T>G)
n.420T>G
c.194T>G (p.Leu65Ter)
c.458T>G (p.Leu153Ter)
n.450T>G
17g.67350263A>GCA400805471PSMD12c.371T>C (p.Leu124Ser)
c.311T>C (p.Leu104Ser)
n.608T>C
c.*526T>C (n.*526T>C)
n.420T>C
c.194T>C (p.Leu65Ser)
c.458T>C (p.Leu153Ser)
n.450T>C
17g.67350263A>TCA400805472PSMD12c.371T>A (p.Leu124Ter)
c.311T>A (p.Leu104Ter)
n.608T>A
c.*526T>A (n.*526T>A)
n.420T>A
c.194T>A (p.Leu65Ter)
c.458T>A (p.Leu153Ter)
n.450T>A
17g.67350264A>CCA400805474PSMD12c.370T>G (p.Leu124Val)
c.310T>G (p.Leu104Val)
n.607T>G
c.*525T>G (n.*525T>G)
n.419T>G
c.193T>G (p.Leu65Val)
c.457T>G (p.Leu153Val)
n.449T>G
17g.67350264A>GCA501602511PSMD12c.370T>C (p.Leu124=)
c.310T>C (p.Leu104=)
n.607T>C
c.*525T>C (n.*525T>C)
n.419T>C
c.193T>C (p.Leu65=)
c.457T>C (p.Leu153=)
n.449T>C
 gnomAD v4
17g.67350264A>TCA400805475PSMD12c.370T>A (p.Leu124Ile)
c.310T>A (p.Leu104Ile)
n.607T>A
c.*525T>A (n.*525T>A)
n.419T>A
c.193T>A (p.Leu65Ile)
c.457T>A (p.Leu153Ile)
n.449T>A
17g.67350265T>ACA501602512PSMD12c.369A>T (p.Arg123=)
c.309A>T (p.Arg103=)
n.606A>T
c.*524A>T (n.*524A>T)
n.418A>T
c.192A>T (p.Arg64=)
c.456A>T (p.Arg152=)
n.448A>T
17g.67350265T>CCA501602514PSMD12c.369A>G (p.Arg123=)
c.309A>G (p.Arg103=)
n.606A>G
c.*524A>G (n.*524A>G)
n.418A>G
c.192A>G (p.Arg64=)
c.456A>G (p.Arg152=)
n.448A>G
17g.67350265T>GCA501602513PSMD12c.369A>C (p.Arg123=)
c.309A>C (p.Arg103=)
n.606A>C
c.*524A>C (n.*524A>C)
n.418A>C
c.192A>C (p.Arg64=)
c.456A>C (p.Arg152=)
n.448A>C
17g.67350266C>ACA400805476PSMD12c.368G>T (p.Arg123Leu)
c.308G>T (p.Arg103Leu)
n.605G>T
c.*523G>T (n.*523G>T)
n.417G>T
c.191G>T (p.Arg64Leu)
c.455G>T (p.Arg152Leu)
n.447G>T
 gnomAD v4
17g.67350266C=CA2271700376PSMD12c.368G= (p.Arg123=)
c.308G= (p.Arg103=)
n.605G=
c.*523G= (n.*523G=)
n.417G=
c.191G= (p.Arg64=)
c.455G= (p.Arg152=)
n.447G=
17g.67350266C>GCA400805477PSMD12c.368G>C (p.Arg123Pro)
c.308G>C (p.Arg103Pro)
n.605G>C
c.*523G>C (n.*523G>C)
n.417G>C
c.191G>C (p.Arg64Pro)
c.455G>C (p.Arg152Pro)
n.447G>C
17g.67350266C>TCA8723772PSMD12c.368G>A (p.Arg123Gln)
c.308G>A (p.Arg103Gln)
n.605G>A
c.*523G>A (n.*523G>A)
n.417G>A
c.191G>A (p.Arg64Gln)
c.455G>A (p.Arg152Gln)
n.447G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.67350267G>ACA400805478PSMD12c.367C>T (p.Arg123Ter)
c.307C>T (p.Arg103Ter)
n.604C>T
c.*522C>T (n.*522C>T)
n.416C>T
c.190C>T (p.Arg64Ter)
c.454C>T (p.Arg152Ter)
n.446C>T
 ClinVar dbSNP COSMIC
17g.67350267G>CCA400805479PSMD12c.367C>G (p.Arg123Gly)
c.307C>G (p.Arg103Gly)
n.604C>G
c.*522C>G (n.*522C>G)
n.416C>G
c.190C>G (p.Arg64Gly)
c.454C>G (p.Arg152Gly)
n.446C>G
 dbSNP gnomAD v2 gnomAD v4
17g.67350267G=CA2271700377PSMD12c.367C= (p.Arg123=)
c.307C= (p.Arg103=)
n.604C=
c.*522C= (n.*522C=)
n.416C=
c.190C= (p.Arg64=)
c.454C= (p.Arg152=)
n.446C=
17g.67350267G>TCA501602515PSMD12c.367C>A (p.Arg123=)
c.307C>A (p.Arg103=)
n.604C>A
c.*522C>A (n.*522C>A)
n.416C>A
c.190C>A (p.Arg64=)
c.454C>A (p.Arg152=)
n.446C>A
17g.67350268A>CCA501602516PSMD12c.366T>G (p.Leu122=)
c.306T>G (p.Leu102=)
n.603T>G
c.*521T>G (n.*521T>G)
n.415T>G
c.189T>G (p.Leu63=)
c.453T>G (p.Leu151=)
n.445T>G
17g.67350268A>GCA501602517PSMD12c.366T>C (p.Leu122=)
c.306T>C (p.Leu102=)
n.603T>C
c.*521T>C (n.*521T>C)
n.415T>C
c.189T>C (p.Leu63=)
c.453T>C (p.Leu151=)
n.445T>C
 gnomAD v4
17g.67350268A>TCA501602518PSMD12c.366T>A (p.Leu122=)
c.306T>A (p.Leu102=)
n.603T>A
c.*521T>A (n.*521T>A)
n.415T>A
c.189T>A (p.Leu63=)
c.453T>A (p.Leu151=)
n.445T>A
17g.67350269A>CCA400805480PSMD12c.365T>G (p.Leu122Arg)
c.305T>G (p.Leu102Arg)
n.602T>G
c.*520T>G (n.*520T>G)
n.414T>G
c.188T>G (p.Leu63Arg)
c.452T>G (p.Leu151Arg)
n.444T>G
17g.67350269A>GCA400805481PSMD12c.365T>C (p.Leu122Pro)
c.305T>C (p.Leu102Pro)
n.602T>C
c.*520T>C (n.*520T>C)
n.414T>C
c.188T>C (p.Leu63Pro)
c.452T>C (p.Leu151Pro)
n.444T>C
17g.67350269A>TCA400805482PSMD12c.365T>A (p.Leu122His)
c.305T>A (p.Leu102His)
n.602T>A
c.*520T>A (n.*520T>A)
n.414T>A
c.188T>A (p.Leu63His)
c.452T>A (p.Leu151His)
n.444T>A
17g.67350270G>ACA400805483PSMD12c.364C>T (p.Leu122Phe)
c.304C>T (p.Leu102Phe)
n.601C>T
c.*519C>T (n.*519C>T)
n.413C>T
c.187C>T (p.Leu63Phe)
c.451C>T (p.Leu151Phe)
n.443C>T
17g.67350270G>CCA400805484PSMD12c.364C>G (p.Leu122Val)
c.304C>G (p.Leu102Val)
n.601C>G
c.*519C>G (n.*519C>G)
n.413C>G
c.187C>G (p.Leu63Val)
c.451C>G (p.Leu151Val)
n.443C>G
17g.67350270G>TCA400805485PSMD12c.364C>A (p.Leu122Ile)
c.304C>A (p.Leu102Ile)
n.601C>A
c.*519C>A (n.*519C>A)
n.413C>A
c.187C>A (p.Leu63Ile)
c.451C>A (p.Leu151Ile)
n.443C>A
17g.67350271T>ACA400805487PSMD12c.363A>T (p.Lys121Asn)
c.303A>T (p.Lys101Asn)
n.600A>T
c.*518A>T (n.*518A>T)
n.412A>T
c.186A>T (p.Lys62Asn)
c.450A>T (p.Lys150Asn)
n.442A>T
17g.67350271T>CCA501602519PSMD12c.363A>G (p.Lys121=)
c.303A>G (p.Lys101=)
n.600A>G
c.*518A>G (n.*518A>G)
n.412A>G
c.186A>G (p.Lys62=)
c.450A>G (p.Lys150=)
n.442A>G
17g.67350271T>GCA400805486PSMD12c.363A>C (p.Lys121Asn)
c.303A>C (p.Lys101Asn)
n.600A>C
c.*518A>C (n.*518A>C)
n.412A>C
c.186A>C (p.Lys62Asn)
c.450A>C (p.Lys150Asn)
n.442A>C
17g.67350272T>ACA400805488PSMD12c.362A>T (p.Lys121Ile)
c.302A>T (p.Lys101Ile)
n.599A>T
c.*517A>T (n.*517A>T)
n.411A>T
c.185A>T (p.Lys62Ile)
c.449A>T (p.Lys150Ile)
n.441A>T
17g.67350272T>CCA400805489PSMD12c.362A>G (p.Lys121Arg)
c.302A>G (p.Lys101Arg)
n.599A>G
c.*517A>G (n.*517A>G)
n.411A>G
c.185A>G (p.Lys62Arg)
c.449A>G (p.Lys150Arg)
n.441A>G
17g.67350272T>GCA400805490PSMD12c.362A>C (p.Lys121Thr)
c.302A>C (p.Lys101Thr)
n.599A>C
c.*517A>C (n.*517A>C)
n.411A>C
c.185A>C (p.Lys62Thr)
c.449A>C (p.Lys150Thr)
n.441A>C
17g.67350273T>ACA400805491PSMD12c.361A>T (p.Lys121Ter)
c.301A>T (p.Lys101Ter)
n.598A>T
c.*516A>T (n.*516A>T)
n.410A>T
c.184A>T (p.Lys62Ter)
c.448A>T (p.Lys150Ter)
n.440A>T
17g.67350273T>CCA400805492PSMD12c.361A>G (p.Lys121Glu)
c.301A>G (p.Lys101Glu)
n.598A>G
c.*516A>G (n.*516A>G)
n.410A>G
c.184A>G (p.Lys62Glu)
c.448A>G (p.Lys150Glu)
n.440A>G
17g.67350273T>GCA400805493PSMD12c.361A>C (p.Lys121Gln)
c.301A>C (p.Lys101Gln)
n.598A>C
c.*516A>C (n.*516A>C)
n.410A>C
c.184A>C (p.Lys62Gln)
c.448A>C (p.Lys150Gln)
n.440A>C
 dbSNP gnomAD v3 gnomAD v4
17g.67350273T=CA2271700378PSMD12c.361A= (p.Lys121=)
c.301A= (p.Lys101=)
n.598A=
c.*516A= (n.*516A=)
n.410A=
c.184A= (p.Lys62=)
c.448A= (p.Lys150=)
n.440A=
17g.67350274G>ACA501602520PSMD12c.360C>T (p.Ile120=)
c.300C>T (p.Ile100=)
n.597C>T
c.*515C>T (n.*515C>T)
n.409C>T
c.183C>T (p.Ile61=)
c.447C>T (p.Ile149=)
n.439C>T
 dbSNP gnomAD v2 gnomAD v4
17g.67350274G>CCA293539551PSMD12c.360C>G (p.Ile120Met)
c.300C>G (p.Ile100Met)
n.597C>G
c.*515C>G (n.*515C>G)
n.409C>G
c.183C>G (p.Ile61Met)
c.447C>G (p.Ile149Met)
n.439C>G
 dbSNP gnomAD v4
17g.67350274G=CA2271700379PSMD12c.360C= (p.Ile120=)
c.300C= (p.Ile100=)
n.597C=
c.*515C= (n.*515C=)
n.409C=
c.183C= (p.Ile61=)
c.447C= (p.Ile149=)
n.439C=
17g.67350274G>TCA501602521PSMD12c.360C>A (p.Ile120=)
c.300C>A (p.Ile100=)
n.597C>A
c.*515C>A (n.*515C>A)
n.409C>A
c.183C>A (p.Ile61=)
c.447C>A (p.Ile149=)
n.439C>A
 gnomAD v4
17g.67350275A>CCA400805494PSMD12c.359T>G (p.Ile120Ser)
c.299T>G (p.Ile100Ser)
n.596T>G
c.*514T>G (n.*514T>G)
n.408T>G
c.182T>G (p.Ile61Ser)
c.446T>G (p.Ile149Ser)
n.438T>G
17g.67350275A>GCA400805495PSMD12c.359T>C (p.Ile120Thr)
c.299T>C (p.Ile100Thr)
n.596T>C
c.*514T>C (n.*514T>C)
n.408T>C
c.182T>C (p.Ile61Thr)
c.446T>C (p.Ile149Thr)
n.438T>C
 gnomAD v4
17g.67350275A>TCA400805496PSMD12c.359T>A (p.Ile120Asn)
c.299T>A (p.Ile100Asn)
n.596T>A
c.*514T>A (n.*514T>A)
n.408T>A
c.182T>A (p.Ile61Asn)
c.446T>A (p.Ile149Asn)
n.438T>A
17g.67350276T>ACA400805497PSMD12c.358A>T (p.Ile120Phe)
c.298A>T (p.Ile100Phe)
n.595A>T
c.*513A>T (n.*513A>T)
n.407A>T
c.181A>T (p.Ile61Phe)
c.445A>T (p.Ile149Phe)
n.437A>T
17g.67350276T>CCA8723773PSMD12c.358A>G (p.Ile120Val)
c.298A>G (p.Ile100Val)
n.595A>G
c.*513A>G (n.*513A>G)
n.407A>G
c.181A>G (p.Ile61Val)
c.445A>G (p.Ile149Val)
n.437A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67350276T>GCA400805498PSMD12c.358A>C (p.Ile120Leu)
c.298A>C (p.Ile100Leu)
n.595A>C
c.*513A>C (n.*513A>C)
n.407A>C
c.181A>C (p.Ile61Leu)
c.445A>C (p.Ile149Leu)
n.437A>C
 dbSNP gnomAD v3 gnomAD v4
17g.67350276T=CA2271700380PSMD12c.358A= (p.Ile120=)
c.298A= (p.Ile100=)
n.595A=
c.*513A= (n.*513A=)
n.407A=
c.181A= (p.Ile61=)
c.445A= (p.Ile149=)
n.437A=
17g.67350277A>CCA501602522PSMD12c.357T>G (p.Pro119=)
c.297T>G (p.Pro99=)
n.594T>G
c.*512T>G (n.*512T>G)
n.406T>G
c.180T>G (p.Pro60=)
c.444T>G (p.Pro148=)
n.436T>G
17g.67350277A>GCA501602523PSMD12c.357T>C (p.Pro119=)
c.297T>C (p.Pro99=)
n.594T>C
c.*512T>C (n.*512T>C)
n.406T>C
c.180T>C (p.Pro60=)
c.444T>C (p.Pro148=)
n.436T>C
17g.67350277A>TCA501602524PSMD12c.357T>A (p.Pro119=)
c.297T>A (p.Pro99=)
n.594T>A
c.*512T>A (n.*512T>A)
n.406T>A
c.180T>A (p.Pro60=)
c.444T>A (p.Pro148=)
n.436T>A
17g.67350277_67350278delinsAGCA2271700381PSMD12c.356_357delinsCT (p.Pro119=)
c.296_297delinsCT (p.Pro99=)
n.593_594delinsCT
c.*511_*512delinsCT (n.*511_*512delinsCT)
n.405_406delinsCT
c.179_180delinsCT (p.Pro60=)
c.443_444delinsCT (p.Pro148=)
n.435_436delinsCT
17g.67350278G>ACA293539552PSMD12c.356C>T (p.Pro119Leu)
c.296C>T (p.Pro99Leu)
n.593C>T
c.*511C>T (n.*511C>T)
n.405C>T
c.179C>T (p.Pro60Leu)
c.443C>T (p.Pro148Leu)
n.435C>T
 dbSNP
17g.67350278G>CCA400805500PSMD12c.356C>G (p.Pro119Arg)
c.296C>G (p.Pro99Arg)
n.593C>G
c.*511C>G (n.*511C>G)
n.405C>G
c.179C>G (p.Pro60Arg)
c.443C>G (p.Pro148Arg)
n.435C>G
17g.67350278G=CA2271700382PSMD12c.356C= (p.Pro119=)
c.296C= (p.Pro99=)
n.593C=
c.*511C= (n.*511C=)
n.405C=
c.179C= (p.Pro60=)
c.443C= (p.Pro148=)
n.435C=
17g.67350278G>TCA400805499PSMD12c.356C>A (p.Pro119His)
c.296C>A (p.Pro99His)
n.593C>A
c.*511C>A (n.*511C>A)
n.405C>A
c.179C>A (p.Pro60His)
c.443C>A (p.Pro148His)
n.435C>A
17g.67350279delCA915952219PSMD12c.356del (p.Pro119LeufsTer6)
c.296del (p.Pro99LeufsTer6)
n.593del
c.*511del (n.*511del)
n.405del
c.179del (p.Pro60LeufsTer6)
c.443del (p.Pro148LeufsTer6)
n.435del
 ClinVar dbSNP
17g.67350279G>ACA400805501PSMD12c.355C>T (p.Pro119Ser)
c.295C>T (p.Pro99Ser)
n.592C>T
c.*510C>T (n.*510C>T)
n.404C>T
c.178C>T (p.Pro60Ser)
c.442C>T (p.Pro148Ser)
n.434C>T
 ClinVar dbSNP gnomAD v4 COSMIC
17g.67350279G>CCA400805503PSMD12c.355C>G (p.Pro119Ala)
c.295C>G (p.Pro99Ala)
n.592C>G
c.*510C>G (n.*510C>G)
n.404C>G
c.178C>G (p.Pro60Ala)
c.442C>G (p.Pro148Ala)
n.434C>G
17g.67350279G=CA2271700383PSMD12c.355C= (p.Pro119=)
c.295C= (p.Pro99=)
n.592C=
c.*510C= (n.*510C=)
n.404C=
c.178C= (p.Pro60=)
c.442C= (p.Pro148=)
n.434C=
17g.67350279G>TCA400805502PSMD12c.355C>A (p.Pro119Thr)
c.295C>A (p.Pro99Thr)
n.592C>A
c.*510C>A (n.*510C>A)
n.404C>A
c.178C>A (p.Pro60Thr)
c.442C>A (p.Pro148Thr)
n.434C>A
17g.67350280A>CCA501602527PSMD12c.354T>G (p.Leu118=)
c.294T>G (p.Leu98=)
n.591T>G
c.*509T>G (n.*509T>G)
n.403T>G
c.177T>G (p.Leu59=)
c.441T>G (p.Leu147=)
n.433T>G
17g.67350280A>GCA501602525PSMD12c.354T>C (p.Leu118=)
c.294T>C (p.Leu98=)
n.591T>C
c.*509T>C (n.*509T>C)
n.403T>C
c.177T>C (p.Leu59=)
c.441T>C (p.Leu147=)
n.433T>C
17g.67350280A>TCA501602526PSMD12c.354T>A (p.Leu118=)
c.294T>A (p.Leu98=)
n.591T>A
c.*509T>A (n.*509T>A)
n.403T>A
c.177T>A (p.Leu59=)
c.441T>A (p.Leu147=)
n.433T>A
17g.67350281A>CCA400805504PSMD12c.353T>G (p.Leu118Arg)
c.293T>G (p.Leu98Arg)
n.590T>G
c.*508T>G (n.*508T>G)
n.402T>G
c.176T>G (p.Leu59Arg)
c.440T>G (p.Leu147Arg)
n.432T>G
17g.67350281A>GCA400805505PSMD12c.353T>C (p.Leu118Pro)
c.293T>C (p.Leu98Pro)
n.590T>C
c.*508T>C (n.*508T>C)
n.402T>C
c.176T>C (p.Leu59Pro)
c.440T>C (p.Leu147Pro)
n.432T>C
17g.67350281A>TCA400805506PSMD12c.353T>A (p.Leu118His)
c.293T>A (p.Leu98His)
n.590T>A
c.*508T>A (n.*508T>A)
n.402T>A
c.176T>A (p.Leu59His)
c.440T>A (p.Leu147His)
n.432T>A
17g.67350282G>ACA400805507PSMD12c.352C>T (p.Leu118Phe)
c.292C>T (p.Leu98Phe)
n.589C>T
c.*507C>T (n.*507C>T)
n.401C>T
c.175C>T (p.Leu59Phe)
c.439C>T (p.Leu147Phe)
n.431C>T
17g.67350282G>CCA400805508PSMD12c.352C>G (p.Leu118Val)
c.292C>G (p.Leu98Val)
n.589C>G
c.*507C>G (n.*507C>G)
n.401C>G
c.175C>G (p.Leu59Val)
c.439C>G (p.Leu147Val)
n.431C>G
17g.67350282G>TCA400805509PSMD12c.352C>A (p.Leu118Ile)
c.292C>A (p.Leu98Ile)
n.589C>A
c.*507C>A (n.*507C>A)
n.401C>A
c.175C>A (p.Leu59Ile)
c.439C>A (p.Leu147Ile)
n.431C>A
17g.67350283G>ACA501602528PSMD12c.351C>T (p.Asp117=)
c.291C>T (p.Asp97=)
n.588C>T
c.*506C>T (n.*506C>T)
n.400C>T
c.174C>T (p.Asp58=)
c.438C>T (p.Asp146=)
n.430C>T
17g.67350283G>CCA400805510PSMD12c.351C>G (p.Asp117Glu)
c.291C>G (p.Asp97Glu)
n.588C>G
c.*506C>G (n.*506C>G)
n.400C>G
c.174C>G (p.Asp58Glu)
c.438C>G (p.Asp146Glu)
n.430C>G
17g.67350283G=CA2271700384PSMD12c.351C= (p.Asp117=)
c.291C= (p.Asp97=)
n.588C=
c.*506C= (n.*506C=)
n.400C=
c.174C= (p.Asp58=)
c.438C= (p.Asp146=)
n.430C=
17g.67350283G>TCA400805511PSMD12c.351C>A (p.Asp117Glu)
c.291C>A (p.Asp97Glu)
n.588C>A
c.*506C>A (n.*506C>A)
n.400C>A
c.174C>A (p.Asp58Glu)
c.438C>A (p.Asp146Glu)
n.430C>A
 dbSNP gnomAD v2 gnomAD v4
17g.67350284T>ACA400805512PSMD12c.350A>T (p.Asp117Val)
c.290A>T (p.Asp97Val)
n.587A>T
c.*505A>T (n.*505A>T)
n.399A>T
c.173A>T (p.Asp58Val)
c.437A>T (p.Asp146Val)
n.429A>T
17g.67350284T>CCA400805513PSMD12c.350A>G (p.Asp117Gly)
c.290A>G (p.Asp97Gly)
n.587A>G
c.*505A>G (n.*505A>G)
n.399A>G
c.173A>G (p.Asp58Gly)
c.437A>G (p.Asp146Gly)
n.429A>G
17g.67350284T>GCA400805514PSMD12c.350A>C (p.Asp117Ala)
c.290A>C (p.Asp97Ala)
n.587A>C
c.*505A>C (n.*505A>C)
n.399A>C
c.173A>C (p.Asp58Ala)
c.437A>C (p.Asp146Ala)
n.429A>C
17g.67350285C>ACA400805517PSMD12c.349G>T (p.Asp117Tyr)
c.289G>T (p.Asp97Tyr)
n.586G>T
c.*504G>T (n.*504G>T)
n.398G>T
c.172G>T (p.Asp58Tyr)
c.436G>T (p.Asp146Tyr)
n.428G>T
 dbSNP gnomAD v4
17g.67350285C=CA2271700385PSMD12c.349G= (p.Asp117=)
c.289G= (p.Asp97=)
n.586G=
c.*504G= (n.*504G=)
n.398G=
c.172G= (p.Asp58=)
c.436G= (p.Asp146=)
n.428G=
17g.67350285C>GCA400805515PSMD12c.349G>C (p.Asp117His)
c.289G>C (p.Asp97His)
n.586G>C
c.*504G>C (n.*504G>C)
n.398G>C
c.172G>C (p.Asp58His)
c.436G>C (p.Asp146His)
n.428G>C
17g.67350285C>TCA400805516PSMD12c.349G>A (p.Asp117Asn)
c.289G>A (p.Asp97Asn)
n.586G>A
c.*504G>A (n.*504G>A)
n.398G>A
c.172G>A (p.Asp58Asn)
c.436G>A (p.Asp146Asn)
n.428G>A
17g.67350286T>ACA501602530PSMD12c.348A>T (p.Thr116=)
c.288A>T (p.Thr96=)
n.585A>T
c.*503A>T (n.*503A>T)
n.397A>T
c.171A>T (p.Thr57=)
c.435A>T (p.Thr145=)
n.427A>T
17g.67350286T>CCA501602529PSMD12c.348A>G (p.Thr116=)
c.288A>G (p.Thr96=)
n.585A>G
c.*503A>G (n.*503A>G)
n.397A>G
c.171A>G (p.Thr57=)
c.435A>G (p.Thr145=)
n.427A>G
17g.67350286T>GCA501602531PSMD12c.348A>C (p.Thr116=)
c.288A>C (p.Thr96=)
n.585A>C
c.*503A>C (n.*503A>C)
n.397A>C
c.171A>C (p.Thr57=)
c.435A>C (p.Thr145=)
n.427A>C
17g.67350287G>ACA400805518PSMD12c.347C>T (p.Thr116Ile)
c.287C>T (p.Thr96Ile)
n.584C>T
c.*502C>T (n.*502C>T)
n.396C>T
c.170C>T (p.Thr57Ile)
c.434C>T (p.Thr145Ile)
n.426C>T
 dbSNP gnomAD v3 gnomAD v4
17g.67350287G>CCA400805519PSMD12c.347C>G (p.Thr116Arg)
c.287C>G (p.Thr96Arg)
n.584C>G
c.*502C>G (n.*502C>G)
n.396C>G
c.170C>G (p.Thr57Arg)
c.434C>G (p.Thr145Arg)
n.426C>G
17g.67350287G=CA2271700386PSMD12c.347C= (p.Thr116=)
c.287C= (p.Thr96=)
n.584C=
c.*502C= (n.*502C=)
n.396C=
c.170C= (p.Thr57=)
c.434C= (p.Thr145=)
n.426C=
17g.67350287G>TCA400805520PSMD12c.347C>A (p.Thr116Lys)
c.287C>A (p.Thr96Lys)
n.584C>A
c.*502C>A (n.*502C>A)
n.396C>A
c.170C>A (p.Thr57Lys)
c.434C>A (p.Thr145Lys)
n.426C>A
17g.67350288T>ACA400805521PSMD12c.346A>T (p.Thr116Ser)
c.286A>T (p.Thr96Ser)
n.583A>T
c.*501A>T (n.*501A>T)
n.395A>T
c.169A>T (p.Thr57Ser)
c.433A>T (p.Thr145Ser)
n.425A>T
17g.67350288T>CCA400805522PSMD12c.346A>G (p.Thr116Ala)
c.286A>G (p.Thr96Ala)
n.583A>G
c.*501A>G (n.*501A>G)
n.395A>G
c.169A>G (p.Thr57Ala)
c.433A>G (p.Thr145Ala)
n.425A>G
 gnomAD v4
17g.67350288T>GCA400805523PSMD12c.346A>C (p.Thr116Pro)
c.286A>C (p.Thr96Pro)
n.583A>C
c.*501A>C (n.*501A>C)
n.395A>C
c.169A>C (p.Thr57Pro)
c.433A>C (p.Thr145Pro)
n.425A>C
 dbSNP
17g.67350288T=CA2271700387PSMD12c.346A= (p.Thr116=)
c.286A= (p.Thr96=)
n.583A=
c.*501A= (n.*501A=)
n.395A=
c.169A= (p.Thr57=)
c.433A= (p.Thr145=)
n.425A=
17g.67350289G>ACA501602532PSMD12c.345C>T (p.Ile115=)
c.285C>T (p.Ile95=)
n.582C>T
c.*500C>T (n.*500C>T)
n.394C>T
c.168C>T (p.Ile56=)
c.432C>T (p.Ile144=)
n.424C>T
 dbSNP gnomAD v4
17g.67350289G>CCA400805524PSMD12c.345C>G (p.Ile115Met)
c.285C>G (p.Ile95Met)
n.582C>G
c.*500C>G (n.*500C>G)
n.394C>G
c.168C>G (p.Ile56Met)
c.432C>G (p.Ile144Met)
n.424C>G
17g.67350289G=CA2271700388PSMD12c.345C= (p.Ile115=)
c.285C= (p.Ile95=)
n.582C=
c.*500C= (n.*500C=)
n.394C=
c.168C= (p.Ile56=)
c.432C= (p.Ile144=)
n.424C=
17g.67350289G>TCA501602533PSMD12c.345C>A (p.Ile115=)
c.285C>A (p.Ile95=)
n.582C>A
c.*500C>A (n.*500C>A)
n.394C>A
c.168C>A (p.Ile56=)
c.432C>A (p.Ile144=)
n.424C>A
17g.67350290A>CCA400805525PSMD12c.344T>G (p.Ile115Ser)
c.284T>G (p.Ile95Ser)
n.581T>G
c.*499T>G (n.*499T>G)
n.393T>G
c.167T>G (p.Ile56Ser)
c.431T>G (p.Ile144Ser)
n.423T>G
17g.67350290A>GCA400805526PSMD12c.344T>C (p.Ile115Thr)
c.284T>C (p.Ile95Thr)
n.581T>C
c.*499T>C (n.*499T>C)
n.393T>C
c.167T>C (p.Ile56Thr)
c.431T>C (p.Ile144Thr)
n.423T>C
 gnomAD v4
17g.67350290A>TCA400805527PSMD12c.344T>A (p.Ile115Asn)
c.284T>A (p.Ile95Asn)
n.581T>A
c.*499T>A (n.*499T>A)
n.393T>A
c.167T>A (p.Ile56Asn)
c.431T>A (p.Ile144Asn)
n.423T>A
17g.67350291T>ACA400805529PSMD12c.343A>T (p.Ile115Phe)
c.283A>T (p.Ile95Phe)
n.580A>T
c.*498A>T (n.*498A>T)
n.392A>T
c.166A>T (p.Ile56Phe)
c.430A>T (p.Ile144Phe)
n.422A>T
17g.67350291T>CCA400805530PSMD12c.343A>G (p.Ile115Val)
c.283A>G (p.Ile95Val)
n.580A>G
c.*498A>G (n.*498A>G)
n.392A>G
c.166A>G (p.Ile56Val)
c.430A>G (p.Ile144Val)
n.422A>G
17g.67350291T>GCA400805528PSMD12c.343A>C (p.Ile115Leu)
c.283A>C (p.Ile95Leu)
n.580A>C
c.*498A>C (n.*498A>C)
n.392A>C
c.166A>C (p.Ile56Leu)
c.430A>C (p.Ile144Leu)
n.422A>C
17g.67350292T>ACA400805531PSMD12c.342A>T (p.Glu114Asp)
c.282A>T (p.Glu94Asp)
n.579A>T
c.*497A>T (n.*497A>T)
n.391A>T
c.165A>T (p.Glu55Asp)
c.429A>T (p.Glu143Asp)
n.421A>T
 COSMIC
17g.67350292T>CCA501602534PSMD12c.342A>G (p.Glu114=)
c.282A>G (p.Glu94=)
n.579A>G
c.*497A>G (n.*497A>G)
n.391A>G
c.165A>G (p.Glu55=)
c.429A>G (p.Glu143=)
n.421A>G
17g.67350292T>GCA400805532PSMD12c.342A>C (p.Glu114Asp)
c.282A>C (p.Glu94Asp)
n.579A>C
c.*497A>C (n.*497A>C)
n.391A>C
c.165A>C (p.Glu55Asp)
c.429A>C (p.Glu143Asp)
n.421A>C
17g.67350293T>ACA400805533PSMD12c.341A>T (p.Glu114Val)
c.281A>T (p.Glu94Val)
n.578A>T
c.*496A>T (n.*496A>T)
n.390A>T
c.164A>T (p.Glu55Val)
c.428A>T (p.Glu143Val)
n.420A>T
17g.67350293T>CCA400805534PSMD12c.341A>G (p.Glu114Gly)
c.281A>G (p.Glu94Gly)
n.578A>G
c.*496A>G (n.*496A>G)
n.390A>G
c.164A>G (p.Glu55Gly)
c.428A>G (p.Glu143Gly)
n.420A>G
17g.67350293T>GCA400805535PSMD12c.341A>C (p.Glu114Ala)
c.281A>C (p.Glu94Ala)
n.578A>C
c.*496A>C (n.*496A>C)
n.390A>C
c.164A>C (p.Glu55Ala)
c.428A>C (p.Glu143Ala)
n.420A>C
17g.67350294C>ACA400805538PSMD12c.340G>T (p.Glu114Ter)
c.280G>T (p.Glu94Ter)
n.577G>T
c.*495G>T (n.*495G>T)
n.389G>T
c.163G>T (p.Glu55Ter)
c.427G>T (p.Glu143Ter)
n.419G>T
17g.67350294C>GCA400805536PSMD12c.340G>C (p.Glu114Gln)
c.280G>C (p.Glu94Gln)
n.577G>C
c.*495G>C (n.*495G>C)
n.389G>C
c.163G>C (p.Glu55Gln)
c.427G>C (p.Glu143Gln)
n.419G>C
17g.67350294C>TCA400805537PSMD12c.340G>A (p.Glu114Lys)
c.280G>A (p.Glu94Lys)
n.577G>A
c.*495G>A (n.*495G>A)
n.389G>A
c.163G>A (p.Glu55Lys)
c.427G>A (p.Glu143Lys)
n.419G>A
17g.67350295C>ACA400805539PSMD12c.339G>T (p.Glu113Asp)
c.279G>T (p.Glu93Asp)
n.576G>T
c.*494G>T (n.*494G>T)
n.388G>T
c.162G>T (p.Glu54Asp)
c.426G>T (p.Glu142Asp)
n.418G>T
17g.67350295C>GCA400805540PSMD12c.339G>C (p.Glu113Asp)
c.279G>C (p.Glu93Asp)
n.576G>C
c.*494G>C (n.*494G>C)
n.388G>C
c.162G>C (p.Glu54Asp)
c.426G>C (p.Glu142Asp)
n.418G>C
17g.67350295C>TCA501602536PSMD12c.339G>A (p.Glu113=)
c.279G>A (p.Glu93=)
n.576G>A
c.*494G>A (n.*494G>A)
n.388G>A
c.162G>A (p.Glu54=)
c.426G>A (p.Glu142=)
n.418G>A
 gnomAD v4
17g.67350296T>ACA400805541PSMD12c.338A>T (p.Glu113Val)
c.278A>T (p.Glu93Val)
n.575A>T
c.*493A>T (n.*493A>T)
n.387A>T
c.161A>T (p.Glu54Val)
c.425A>T (p.Glu142Val)
n.417A>T
17g.67350296T>CCA400805542PSMD12c.338A>G (p.Glu113Gly)
c.278A>G (p.Glu93Gly)
n.575A>G
c.*493A>G (n.*493A>G)
n.387A>G
c.161A>G (p.Glu54Gly)
c.425A>G (p.Glu142Gly)
n.417A>G
17g.67350296T>GCA400805543PSMD12c.338A>C (p.Glu113Ala)
c.278A>C (p.Glu93Ala)
n.575A>C
c.*493A>C (n.*493A>C)
n.387A>C
c.161A>C (p.Glu54Ala)
c.425A>C (p.Glu142Ala)
n.417A>C
17g.67350297C>ACA400805544PSMD12c.337G>T (p.Glu113Ter)
c.277G>T (p.Glu93Ter)
n.574G>T
c.*492G>T (n.*492G>T)
n.386G>T
c.160G>T (p.Glu54Ter)
c.424G>T (p.Glu142Ter)
n.416G>T
17g.67350297C=CA2271700389PSMD12c.337G= (p.Glu113=)
c.277G= (p.Glu93=)
n.574G=
c.*492G= (n.*492G=)
n.386G=
c.160G= (p.Glu54=)
c.424G= (p.Glu142=)
n.416G=
17g.67350297C>GCA400805545PSMD12c.337G>C (p.Glu113Gln)
c.277G>C (p.Glu93Gln)
n.574G>C
c.*492G>C (n.*492G>C)
n.386G>C
c.160G>C (p.Glu54Gln)
c.424G>C (p.Glu142Gln)
n.416G>C
17g.67350297C>TCA8723774PSMD12c.337G>A (p.Glu113Lys)
c.277G>A (p.Glu93Lys)
n.574G>A
c.*492G>A (n.*492G>A)
n.386G>A
c.160G>A (p.Glu54Lys)
c.424G>A (p.Glu142Lys)
n.416G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67350298A>CCA501602538PSMD12c.336T>G (p.Val112=)
c.276T>G (p.Val92=)
n.573T>G
c.*491T>G (n.*491T>G)
n.385T>G
c.159T>G (p.Val53=)
c.423T>G (p.Val141=)
n.415T>G
17g.67350298A>GCA501602539PSMD12c.336T>C (p.Val112=)
c.276T>C (p.Val92=)
n.573T>C
c.*491T>C (n.*491T>C)
n.385T>C
c.159T>C (p.Val53=)
c.423T>C (p.Val141=)
n.415T>C
17g.67350298A>TCA501602540PSMD12c.336T>A (p.Val112=)
c.276T>A (p.Val92=)
n.573T>A
c.*491T>A (n.*491T>A)
n.385T>A
c.159T>A (p.Val53=)
c.423T>A (p.Val141=)
n.415T>A
17g.67350299A>CCA400805546PSMD12c.335T>G (p.Val112Gly)
c.275T>G (p.Val92Gly)
c.*385T>G (n.*385T>G)
n.572T>G
c.*490T>G (n.*490T>G)
n.384T>G
c.158T>G (p.Val53Gly)
c.422T>G (p.Val141Gly)
n.414T>G
17g.67350299A>GCA400805547PSMD12c.335T>C (p.Val112Ala)
c.275T>C (p.Val92Ala)
c.*385T>C (n.*385T>C)
n.572T>C
c.*490T>C (n.*490T>C)
n.384T>C
c.158T>C (p.Val53Ala)
c.422T>C (p.Val141Ala)
n.414T>C
 gnomAD v4
17g.67350299A>TCA400805548PSMD12c.335T>A (p.Val112Asp)
c.275T>A (p.Val92Asp)
c.*385T>A (n.*385T>A)
n.572T>A
c.*490T>A (n.*490T>A)
n.384T>A
c.158T>A (p.Val53Asp)
c.422T>A (p.Val141Asp)
n.414T>A
17g.67350300C>ACA400805549PSMD12c.334G>T (p.Val112Phe)
c.274G>T (p.Val92Phe)
c.*384G>T (n.*384G>T)
n.571G>T
c.*489G>T (n.*489G>T)
n.383G>T
c.157G>T (p.Val53Phe)
c.421G>T (p.Val141Phe)
n.413G>T
17g.67350300C>GCA400805550PSMD12c.334G>C (p.Val112Leu)
c.274G>C (p.Val92Leu)
c.*384G>C (n.*384G>C)
n.571G>C
c.*489G>C (n.*489G>C)
n.383G>C
c.157G>C (p.Val53Leu)
c.421G>C (p.Val141Leu)
n.413G>C
 gnomAD v4
17g.67350300C>TCA400805551PSMD12c.334G>A (p.Val112Ile)
c.274G>A (p.Val92Ile)
c.*384G>A (n.*384G>A)
n.571G>A
c.*489G>A (n.*489G>A)
n.383G>A
c.157G>A (p.Val53Ile)
c.421G>A (p.Val141Ile)
n.413G>A
17g.67350301A=CA2271700390PSMD12c.333T= (p.Tyr111=)
c.273T= (p.Tyr91=)
c.*383T= (n.*383T=)
n.570T=
c.*488T= (n.*488T=)
n.382T=
c.156T= (p.Tyr52=)
c.420T= (p.Tyr140=)
n.412T=
17g.67350301A>CCA400805552PSMD12c.333T>G (p.Tyr111Ter)
c.273T>G (p.Tyr91Ter)
c.*383T>G (n.*383T>G)
n.570T>G
c.*488T>G (n.*488T>G)
n.382T>G
c.156T>G (p.Tyr52Ter)
c.420T>G (p.Tyr140Ter)
n.412T>G
17g.67350301A>GCA8723775PSMD12c.333T>C (p.Tyr111=)
c.273T>C (p.Tyr91=)
c.*383T>C (n.*383T>C)
n.570T>C
c.*488T>C (n.*488T>C)
n.382T>C
c.156T>C (p.Tyr52=)
c.420T>C (p.Tyr140=)
n.412T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.67350301A>TCA400805553PSMD12c.333T>A (p.Tyr111Ter)
c.273T>A (p.Tyr91Ter)
c.*383T>A (n.*383T>A)
n.570T>A
c.*488T>A (n.*488T>A)
n.382T>A
c.156T>A (p.Tyr52Ter)
c.420T>A (p.Tyr140Ter)
n.412T>A
 ClinVar
17g.67350302T>ACA400805554PSMD12c.332A>T (p.Tyr111Phe)
c.272A>T (p.Tyr91Phe)
c.*382A>T (n.*382A>T)
n.569A>T
c.*487A>T (n.*487A>T)
n.381A>T
c.155A>T (p.Tyr52Phe)
c.419A>T (p.Tyr140Phe)
n.411A>T
17g.67350302T>CCA400805555PSMD12c.332A>G (p.Tyr111Cys)
c.272A>G (p.Tyr91Cys)
c.*382A>G (n.*382A>G)
n.569A>G
c.*487A>G (n.*487A>G)
n.381A>G
c.155A>G (p.Tyr52Cys)
c.419A>G (p.Tyr140Cys)
n.411A>G
17g.67350302T>GCA400805556PSMD12c.332A>C (p.Tyr111Ser)
c.272A>C (p.Tyr91Ser)
c.*382A>C (n.*382A>C)
n.569A>C
c.*487A>C (n.*487A>C)
n.381A>C
c.155A>C (p.Tyr52Ser)
c.419A>C (p.Tyr140Ser)
n.411A>C
17g.67350303A>CCA400805558PSMD12c.331T>G (p.Tyr111Asp)
c.271T>G (p.Tyr91Asp)
c.*381T>G (n.*381T>G)
n.568T>G
c.*486T>G (n.*486T>G)
n.380T>G
c.154T>G (p.Tyr52Asp)
c.418T>G (p.Tyr140Asp)
n.410T>G
17g.67350303A>GCA400805559PSMD12c.331T>C (p.Tyr111His)
c.271T>C (p.Tyr91His)
c.*381T>C (n.*381T>C)
n.568T>C
c.*486T>C (n.*486T>C)
n.380T>C
c.154T>C (p.Tyr52His)
c.418T>C (p.Tyr140His)
n.410T>C
17g.67350303A>TCA400805557PSMD12c.331T>A (p.Tyr111Asn)
c.271T>A (p.Tyr91Asn)
c.*381T>A (n.*381T>A)
n.568T>A
c.*486T>A (n.*486T>A)
n.380T>A
c.154T>A (p.Tyr52Asn)
c.418T>A (p.Tyr140Asn)
n.410T>A
17g.67350304A>CCA501602541PSMD12c.330T>G (p.Thr110=)
c.270T>G (p.Thr90=)
c.*380T>G (n.*380T>G)
n.567T>G
c.*485T>G (n.*485T>G)
n.379T>G
c.153T>G (p.Thr51=)
c.417T>G (p.Thr139=)
n.409T>G
17g.67350304A>GCA501602542PSMD12c.330T>C (p.Thr110=)
c.270T>C (p.Thr90=)
c.*380T>C (n.*380T>C)
n.567T>C
c.*485T>C (n.*485T>C)
n.379T>C
c.153T>C (p.Thr51=)
c.417T>C (p.Thr139=)
n.409T>C
17g.67350304A>TCA501602543PSMD12c.330T>A (p.Thr110=)
c.270T>A (p.Thr90=)
c.*380T>A (n.*380T>A)
n.567T>A
c.*485T>A (n.*485T>A)
n.379T>A
c.153T>A (p.Thr51=)
c.417T>A (p.Thr139=)
n.409T>A
17g.67350305G>ACA400805561PSMD12c.329C>T (p.Thr110Ile)
c.269C>T (p.Thr90Ile)
c.*379C>T (n.*379C>T)
n.566C>T
c.*484C>T (n.*484C>T)
n.378C>T
c.152C>T (p.Thr51Ile)
c.416C>T (p.Thr139Ile)
n.408C>T
17g.67350305G>CCA400805560PSMD12c.329C>G (p.Thr110Ser)
c.269C>G (p.Thr90Ser)
c.*379C>G (n.*379C>G)
n.566C>G
c.*484C>G (n.*484C>G)
n.378C>G
c.152C>G (p.Thr51Ser)
c.416C>G (p.Thr139Ser)
n.408C>G
17g.67350305G>TCA400805562PSMD12c.329C>A (p.Thr110Asn)
c.269C>A (p.Thr90Asn)
c.*379C>A (n.*379C>A)
n.566C>A
c.*484C>A (n.*484C>A)
n.378C>A
c.152C>A (p.Thr51Asn)
c.416C>A (p.Thr139Asn)
n.408C>A
17g.67350306T>ACA400805563PSMD12c.328A>T (p.Thr110Ser)
c.268A>T (p.Thr90Ser)
c.*378A>T (n.*378A>T)
n.565A>T
c.*483A>T (n.*483A>T)
n.377A>T
c.151A>T (p.Thr51Ser)
c.415A>T (p.Thr139Ser)
n.407A>T
17g.67350306T>CCA8723776PSMD12c.328A>G (p.Thr110Ala)
c.268A>G (p.Thr90Ala)
c.*378A>G (n.*378A>G)
n.565A>G
c.*483A>G (n.*483A>G)
n.377A>G
c.151A>G (p.Thr51Ala)
c.415A>G (p.Thr139Ala)
n.407A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67350306T>GCA400805564PSMD12c.328A>C (p.Thr110Pro)
c.268A>C (p.Thr90Pro)
c.*378A>C (n.*378A>C)
n.565A>C
c.*483A>C (n.*483A>C)
n.377A>C
c.151A>C (p.Thr51Pro)
c.415A>C (p.Thr139Pro)
n.407A>C
17g.67350306T=CA2271700391PSMD12c.328A= (p.Thr110=)
c.268A= (p.Thr90=)
c.*378A= (n.*378A=)
n.565A=
c.*483A= (n.*483A=)
n.377A=
c.151A= (p.Thr51=)
c.415A= (p.Thr139=)
n.407A=
17g.67350307A>CCA400805565PSMD12c.327T>G (p.Cys109Trp)
c.267T>G (p.Cys89Trp)
c.*377T>G (n.*377T>G)
n.564T>G
c.*482T>G (n.*482T>G)
n.376T>G
c.150T>G (p.Cys50Trp)
c.414T>G (p.Cys138Trp)
n.406T>G
17g.67350307A>GCA501602544PSMD12c.327T>C (p.Cys109=)
c.267T>C (p.Cys89=)
c.*377T>C (n.*377T>C)
n.564T>C
c.*482T>C (n.*482T>C)
n.376T>C
c.150T>C (p.Cys50=)
c.414T>C (p.Cys138=)
n.406T>C
17g.67350307A>TCA400805566PSMD12c.327T>A (p.Cys109Ter)
c.267T>A (p.Cys89Ter)
c.*377T>A (n.*377T>A)
n.564T>A
c.*482T>A (n.*482T>A)
n.376T>A
c.150T>A (p.Cys50Ter)
c.414T>A (p.Cys138Ter)
n.406T>A
17g.67350308C>ACA400805567PSMD12c.326G>T (p.Cys109Phe)
c.266G>T (p.Cys89Phe)
c.*376G>T (n.*376G>T)
n.563G>T
c.*481G>T (n.*481G>T)
n.375G>T
c.149G>T (p.Cys50Phe)
c.413G>T (p.Cys138Phe)
n.405G>T
17g.67350308C>GCA400805568PSMD12c.326G>C (p.Cys109Ser)
c.266G>C (p.Cys89Ser)
c.*376G>C (n.*376G>C)
n.563G>C
c.*481G>C (n.*481G>C)
n.375G>C
c.149G>C (p.Cys50Ser)
c.413G>C (p.Cys138Ser)
n.405G>C
17g.67350308C>TCA400805569PSMD12c.326G>A (p.Cys109Tyr)
c.266G>A (p.Cys89Tyr)
c.*376G>A (n.*376G>A)
n.563G>A
c.*481G>A (n.*481G>A)
n.375G>A
c.149G>A (p.Cys50Tyr)
c.413G>A (p.Cys138Tyr)
n.405G>A
 gnomAD v4
17g.67350309A>CCA400805570PSMD12c.325T>G (p.Cys109Gly)
c.265T>G (p.Cys89Gly)
c.*375T>G (n.*375T>G)
n.562T>G
c.*480T>G (n.*480T>G)
n.374T>G
c.148T>G (p.Cys50Gly)
c.412T>G (p.Cys138Gly)
n.404T>G
17g.67350309A>GCA400805571PSMD12c.325T>C (p.Cys109Arg)
c.265T>C (p.Cys89Arg)
c.*375T>C (n.*375T>C)
n.562T>C
c.*480T>C (n.*480T>C)
n.374T>C
c.148T>C (p.Cys50Arg)
c.412T>C (p.Cys138Arg)
n.404T>C
17g.67350309A>TCA400805572PSMD12c.325T>A (p.Cys109Ser)
c.265T>A (p.Cys89Ser)
c.*375T>A (n.*375T>A)
n.562T>A
c.*480T>A (n.*480T>A)
n.374T>A
c.148T>A (p.Cys50Ser)
c.412T>A (p.Cys138Ser)
n.404T>A
17g.67350310G>ACA501602545PSMD12c.324C>T (p.Cys108=)
c.264C>T (p.Cys88=)
c.*374C>T (n.*374C>T)
n.561C>T
c.*479C>T (n.*479C>T)
n.373C>T
c.147C>T (p.Cys49=)
c.411C>T (p.Cys137=)
n.403C>T
17g.67350310G>CCA400805573PSMD12c.324C>G (p.Cys108Trp)
c.264C>G (p.Cys88Trp)
c.*374C>G (n.*374C>G)
n.561C>G
c.*479C>G (n.*479C>G)
n.373C>G
c.147C>G (p.Cys49Trp)
c.411C>G (p.Cys137Trp)
n.403C>G
17g.67350310G>TCA400805574PSMD12c.324C>A (p.Cys108Ter)
c.264C>A (p.Cys88Ter)
c.*374C>A (n.*374C>A)
n.561C>A
c.*479C>A (n.*479C>A)
n.373C>A
c.147C>A (p.Cys49Ter)
c.411C>A (p.Cys137Ter)
n.403C>A
17g.67350311C>ACA400805575PSMD12c.323G>T (p.Cys108Phe)
c.263G>T (p.Cys88Phe)
c.*373G>T (n.*373G>T)
n.560G>T
c.*478G>T (n.*478G>T)
n.372G>T
c.146G>T (p.Cys49Phe)
c.410G>T (p.Cys137Phe)
n.402G>T
17g.67350311C>GCA400805577PSMD12c.323G>C (p.Cys108Ser)
c.263G>C (p.Cys88Ser)
c.*373G>C (n.*373G>C)
n.560G>C
c.*478G>C (n.*478G>C)
n.372G>C
c.146G>C (p.Cys49Ser)
c.410G>C (p.Cys137Ser)
n.402G>C
17g.67350311C>TCA400805576PSMD12c.323G>A (p.Cys108Tyr)
c.263G>A (p.Cys88Tyr)
c.*373G>A (n.*373G>A)
n.560G>A
c.*478G>A (n.*478G>A)
n.372G>A
c.146G>A (p.Cys49Tyr)
c.410G>A (p.Cys137Tyr)
n.402G>A
17g.67350312A>CCA400805578PSMD12c.322T>G (p.Cys108Gly)
c.262T>G (p.Cys88Gly)
c.*372T>G (n.*372T>G)
n.559T>G
c.*477T>G (n.*477T>G)
n.371T>G
c.145T>G (p.Cys49Gly)
c.409T>G (p.Cys137Gly)
n.401T>G
17g.67350312A>GCA400805579PSMD12c.322T>C (p.Cys108Arg)
c.262T>C (p.Cys88Arg)
c.*372T>C (n.*372T>C)
n.559T>C
c.*477T>C (n.*477T>C)
n.371T>C
c.145T>C (p.Cys49Arg)
c.409T>C (p.Cys137Arg)
n.401T>C
17g.67350312A>TCA400805580PSMD12c.322T>A (p.Cys108Ser)
c.262T>A (p.Cys88Ser)
c.*372T>A (n.*372T>A)
n.559T>A
c.*477T>A (n.*477T>A)
n.371T>A
c.145T>A (p.Cys49Ser)
c.409T>A (p.Cys137Ser)
n.401T>A
17g.67350313C>ACA400805581PSMD12c.321G>T (p.Gln107His)
c.261G>T (p.Gln87His)
c.*371G>T (n.*371G>T)
n.558G>T
c.*476G>T (n.*476G>T)
n.370G>T
c.144G>T (p.Gln48His)
c.408G>T (p.Gln136His)
n.400G>T
17g.67350313C>GCA400805582PSMD12c.321G>C (p.Gln107His)
c.261G>C (p.Gln87His)
c.*371G>C (n.*371G>C)
n.558G>C
c.*476G>C (n.*476G>C)
n.370G>C
c.144G>C (p.Gln48His)
c.408G>C (p.Gln136His)
n.400G>C
 gnomAD v4
17g.67350313C>TCA501602546PSMD12c.321G>A (p.Gln107=)
c.261G>A (p.Gln87=)
c.*371G>A (n.*371G>A)
n.558G>A
c.*476G>A (n.*476G>A)
n.370G>A
c.144G>A (p.Gln48=)
c.408G>A (p.Gln136=)
n.400G>A
 gnomAD v4
17g.67350314T>ACA400805583PSMD12c.320A>T (p.Gln107Leu)
c.260A>T (p.Gln87Leu)
c.*370A>T (n.*370A>T)
n.557A>T
c.*475A>T (n.*475A>T)
n.369A>T
c.143A>T (p.Gln48Leu)
c.407A>T (p.Gln136Leu)
n.399A>T
17g.67350314T>CCA400805584PSMD12c.320A>G (p.Gln107Arg)
c.260A>G (p.Gln87Arg)
c.*370A>G (n.*370A>G)
n.557A>G
c.*475A>G (n.*475A>G)
n.369A>G
c.143A>G (p.Gln48Arg)
c.407A>G (p.Gln136Arg)
n.399A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.67350314T>GCA400805585PSMD12c.320A>C (p.Gln107Pro)
c.260A>C (p.Gln87Pro)
c.*370A>C (n.*370A>C)
n.557A>C
c.*475A>C (n.*475A>C)
n.369A>C
c.143A>C (p.Gln48Pro)
c.407A>C (p.Gln136Pro)
n.399A>C
17g.67350314T=CA2271700392PSMD12c.320A= (p.Gln107=)
c.260A= (p.Gln87=)
c.*370A= (n.*370A=)
n.557A=
c.*475A= (n.*475A=)
n.369A=
c.143A= (p.Gln48=)
c.407A= (p.Gln136=)
n.399A=
17g.67350315G>ACA400805586PSMD12c.319C>T (p.Gln107Ter)
c.259C>T (p.Gln87Ter)
c.*369C>T (n.*369C>T)
n.556C>T
c.*474C>T (n.*474C>T)
n.368C>T
c.142C>T (p.Gln48Ter)
c.406C>T (p.Gln136Ter)
n.398C>T
17g.67350315G>CCA400805587PSMD12c.319C>G (p.Gln107Glu)
c.259C>G (p.Gln87Glu)
c.*369C>G (n.*369C>G)
n.556C>G
c.*474C>G (n.*474C>G)
n.368C>G
c.142C>G (p.Gln48Glu)
c.406C>G (p.Gln136Glu)
n.398C>G
17g.67350315G>TCA400805588PSMD12c.319C>A (p.Gln107Lys)
c.259C>A (p.Gln87Lys)
c.*369C>A (n.*369C>A)
n.556C>A
c.*474C>A (n.*474C>A)
n.368C>A
c.142C>A (p.Gln48Lys)
c.406C>A (p.Gln136Lys)
n.398C>A
17g.67350316T>ACA400805590PSMD12c.318A>T (p.Gln106His)
c.258A>T (p.Gln86His)
c.*368A>T (n.*368A>T)
n.555A>T
c.*473A>T (n.*473A>T)
n.367A>T
c.141A>T (p.Gln47His)
c.405A>T (p.Gln135His)
n.397A>T
17g.67350316T>CCA501602547PSMD12c.318A>G (p.Gln106=)
c.258A>G (p.Gln86=)
c.*368A>G (n.*368A>G)
n.555A>G
c.*473A>G (n.*473A>G)
n.367A>G
c.141A>G (p.Gln47=)
c.405A>G (p.Gln135=)
n.397A>G
 gnomAD v4
17g.67350316T>GCA400805589PSMD12c.318A>C (p.Gln106His)
c.258A>C (p.Gln86His)
c.*368A>C (n.*368A>C)
n.555A>C
c.*473A>C (n.*473A>C)
n.367A>C
c.141A>C (p.Gln47His)
c.405A>C (p.Gln135His)
n.397A>C
17g.67350317T>ACA400805591PSMD12c.317A>T (p.Gln106Leu)
c.257A>T (p.Gln86Leu)
c.*367A>T (n.*367A>T)
n.554A>T
c.*472A>T (n.*472A>T)
n.366A>T
c.140A>T (p.Gln47Leu)
c.404A>T (p.Gln135Leu)
n.396A>T
17g.67350317T>CCA400805592PSMD12c.317A>G (p.Gln106Arg)
c.257A>G (p.Gln86Arg)
c.*367A>G (n.*367A>G)
n.554A>G
c.*472A>G (n.*472A>G)
n.366A>G
c.140A>G (p.Gln47Arg)
c.404A>G (p.Gln135Arg)
n.396A>G
 gnomAD v4
17g.67350317T>GCA400805593PSMD12c.317A>C (p.Gln106Pro)
c.257A>C (p.Gln86Pro)
c.*367A>C (n.*367A>C)
n.554A>C
c.*472A>C (n.*472A>C)
n.366A>C
c.140A>C (p.Gln47Pro)
c.404A>C (p.Gln135Pro)
n.396A>C
17g.67350318G>ACA400805594PSMD12c.316C>T (p.Gln106Ter)
c.256C>T (p.Gln86Ter)
c.*366C>T (n.*366C>T)
n.553C>T
c.*471C>T (n.*471C>T)
n.365C>T
c.139C>T (p.Gln47Ter)
c.403C>T (p.Gln135Ter)
n.395C>T
 ClinVar dbSNP
17g.67350318G>CCA400805595PSMD12c.316C>G (p.Gln106Glu)
c.256C>G (p.Gln86Glu)
c.*366C>G (n.*366C>G)
n.553C>G
c.*471C>G (n.*471C>G)
n.365C>G
c.139C>G (p.Gln47Glu)
c.403C>G (p.Gln135Glu)
n.395C>G
17g.67350318G=CA2271700393PSMD12c.316C= (p.Gln106=)
c.256C= (p.Gln86=)
c.*366C= (n.*366C=)
n.553C=
c.*471C= (n.*471C=)
n.365C=
c.139C= (p.Gln47=)
c.403C= (p.Gln135=)
n.395C=
17g.67350318G>TCA400805596PSMD12c.316C>A (p.Gln106Lys)
c.256C>A (p.Gln86Lys)
c.*366C>A (n.*366C>A)
n.553C>A
c.*471C>A (n.*471C>A)
n.365C>A
c.139C>A (p.Gln47Lys)
c.403C>A (p.Gln135Lys)
n.395C>A
 gnomAD v4
17g.67350319A>CCA501602548PSMD12c.315T>G (p.Val105=)
c.255T>G (p.Val85=)
c.*365T>G (n.*365T>G)
n.552T>G
c.*470T>G (n.*470T>G)
n.364T>G
c.138T>G (p.Val46=)
c.402T>G (p.Val134=)
n.394T>G
17g.67350319A>GCA501602549PSMD12c.315T>C (p.Val105=)
c.255T>C (p.Val85=)
c.*365T>C (n.*365T>C)
n.552T>C
c.*470T>C (n.*470T>C)
n.364T>C
c.138T>C (p.Val46=)
c.402T>C (p.Val134=)
n.394T>C
17g.67350319A>TCA501602550PSMD12c.315T>A (p.Val105=)
c.255T>A (p.Val85=)
c.*365T>A (n.*365T>A)
n.552T>A
c.*470T>A (n.*470T>A)
n.364T>A
c.138T>A (p.Val46=)
c.402T>A (p.Val134=)
n.394T>A
17g.67350320A>CCA400805599PSMD12c.314T>G (p.Val105Gly)
c.254T>G (p.Val85Gly)
c.*364T>G (n.*364T>G)
n.551T>G
c.*469T>G (n.*469T>G)
n.363T>G
c.137T>G (p.Val46Gly)
c.401T>G (p.Val134Gly)
n.393T>G
17g.67350320A>GCA400805598PSMD12c.314T>C (p.Val105Ala)
c.254T>C (p.Val85Ala)
c.*364T>C (n.*364T>C)
n.551T>C
c.*469T>C (n.*469T>C)
n.363T>C
c.137T>C (p.Val46Ala)
c.401T>C (p.Val134Ala)
n.393T>C
17g.67350320A>TCA400805597PSMD12c.314T>A (p.Val105Asp)
c.254T>A (p.Val85Asp)
c.*364T>A (n.*364T>A)
n.551T>A
c.*469T>A (n.*469T>A)
n.363T>A
c.137T>A (p.Val46Asp)
c.401T>A (p.Val134Asp)
n.393T>A
17g.67350321C>ACA400805600PSMD12c.313G>T (p.Val105Phe)
c.253G>T (p.Val85Phe)
c.*363G>T (n.*363G>T)
n.550G>T
c.*468G>T (n.*468G>T)
n.362G>T
c.136G>T (p.Val46Phe)
c.400G>T (p.Val134Phe)
n.392G>T
17g.67350321C>GCA400805601PSMD12c.313G>C (p.Val105Leu)
c.253G>C (p.Val85Leu)
c.*363G>C (n.*363G>C)
n.550G>C
c.*468G>C (n.*468G>C)
n.362G>C
c.136G>C (p.Val46Leu)
c.400G>C (p.Val134Leu)
n.392G>C
17g.67350321C>TCA400805602PSMD12c.313G>A (p.Val105Ile)
c.253G>A (p.Val85Ile)
c.*363G>A (n.*363G>A)
n.550G>A
c.*468G>A (n.*468G>A)
n.362G>A
c.136G>A (p.Val46Ile)
c.400G>A (p.Val134Ile)
n.392G>A
17g.67350322C>ACA400805603PSMD12c.312G>T (p.Met104Ile)
c.252G>T (p.Met84Ile)
c.*362G>T (n.*362G>T)
n.549G>T
c.*467G>T (n.*467G>T)
n.361G>T
c.135G>T (p.Met45Ile)
c.399G>T (p.Met133Ile)
n.391G>T
 gnomAD v4
17g.67350322C>GCA400805604PSMD12c.312G>C (p.Met104Ile)
c.252G>C (p.Met84Ile)
c.*362G>C (n.*362G>C)
n.549G>C
c.*467G>C (n.*467G>C)
n.361G>C
c.135G>C (p.Met45Ile)
c.399G>C (p.Met133Ile)
n.391G>C
17g.67350322C>TCA400805605PSMD12c.312G>A (p.Met104Ile)
c.252G>A (p.Met84Ile)
c.*362G>A (n.*362G>A)
n.549G>A
c.*467G>A (n.*467G>A)
n.361G>A
c.135G>A (p.Met45Ile)
c.399G>A (p.Met133Ile)
n.391G>A
17g.67350323A>CCA400805606PSMD12c.311T>G (p.Met104Arg)
c.251T>G (p.Met84Arg)
c.*361T>G (n.*361T>G)
n.548T>G
c.*466T>G (n.*466T>G)
n.360T>G
c.134T>G (p.Met45Arg)
c.398T>G (p.Met133Arg)
n.390T>G
17g.67350323A>GCA400805608PSMD12c.311T>C (p.Met104Thr)
c.251T>C (p.Met84Thr)
c.*361T>C (n.*361T>C)
n.548T>C
c.*466T>C (n.*466T>C)
n.360T>C
c.134T>C (p.Met45Thr)
c.398T>C (p.Met133Thr)
n.390T>C
17g.67350323A>TCA400805607PSMD12c.311T>A (p.Met104Lys)
c.251T>A (p.Met84Lys)
c.*361T>A (n.*361T>A)
n.548T>A
c.*466T>A (n.*466T>A)
n.360T>A
c.134T>A (p.Met45Lys)
c.398T>A (p.Met133Lys)
n.390T>A
17g.67350324T>ACA400805609PSMD12c.310A>T (p.Met104Leu)
c.250A>T (p.Met84Leu)
c.*360A>T (n.*360A>T)
n.547A>T
c.*465A>T (n.*465A>T)
n.359A>T
c.133A>T (p.Met45Leu)
c.397A>T (p.Met133Leu)
n.389A>T
17g.67350324T>CCA8723777PSMD12c.310A>G (p.Met104Val)
c.250A>G (p.Met84Val)
c.*360A>G (n.*360A>G)
n.547A>G
c.*465A>G (n.*465A>G)
n.359A>G
c.133A>G (p.Met45Val)
c.397A>G (p.Met133Val)
n.389A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67350324T>GCA400805610PSMD12c.310A>C (p.Met104Leu)
c.250A>C (p.Met84Leu)
c.*360A>C (n.*360A>C)
n.547A>C
c.*465A>C (n.*465A>C)
n.359A>C
c.133A>C (p.Met45Leu)
c.397A>C (p.Met133Leu)
n.389A>C
17g.67350324T=CA2271700394PSMD12c.310A= (p.Met104=)
c.250A= (p.Met84=)
c.*360A= (n.*360A=)
n.547A=
c.*465A= (n.*465A=)
n.359A=
c.133A= (p.Met45=)
c.397A= (p.Met133=)
n.389A=
17g.67350327dupCA2810220985PSMD12c.310dup (p.Met104AsnfsTer10)
c.250dup (p.Met84AsnfsTer10)
c.*360dup (n.*360dup)
n.547dup
c.*465dup (n.*465dup)
n.359dup
c.133dup (p.Met45AsnfsTer10)
c.397dup (p.Met133AsnfsTer10)
n.389dup
17g.67350327delCA2639451150PSMD12c.310del (p.Met104TrpfsTer21)
c.250del (p.Met84TrpfsTer21)
c.*360del (n.*360del)
n.547del
c.*465del (n.*465del)
n.359del
c.133del (p.Met45TrpfsTer21)
c.397del (p.Met133TrpfsTer21)
n.389del
 gnomAD v4
17g.67350325T>ACA400805611PSMD12c.309A>T (p.Lys103Asn)
c.249A>T (p.Lys83Asn)
c.*359A>T (n.*359A>T)
n.546A>T
c.*464A>T (n.*464A>T)
n.358A>T
c.132A>T (p.Lys44Asn)
c.396A>T (p.Lys132Asn)
n.388A>T
17g.67350325T>CCA501602551PSMD12c.309A>G (p.Lys103=)
c.249A>G (p.Lys83=)
c.*359A>G (n.*359A>G)
n.546A>G
c.*464A>G (n.*464A>G)
n.358A>G
c.132A>G (p.Lys44=)
c.396A>G (p.Lys132=)
n.388A>G
17g.67350325T>GCA400805612PSMD12c.309A>C (p.Lys103Asn)
c.249A>C (p.Lys83Asn)
c.*359A>C (n.*359A>C)
n.546A>C
c.*464A>C (n.*464A>C)
n.358A>C
c.132A>C (p.Lys44Asn)
c.396A>C (p.Lys132Asn)
n.388A>C
17g.67350326T>ACA400805613PSMD12c.308A>T (p.Lys103Ile)
c.248A>T (p.Lys83Ile)
c.*358A>T (n.*358A>T)
n.545A>T
c.*463A>T (n.*463A>T)
n.357A>T
c.131A>T (p.Lys44Ile)
c.395A>T (p.Lys132Ile)
n.387A>T
17g.67350326T>CCA400805614PSMD12c.308A>G (p.Lys103Arg)
c.248A>G (p.Lys83Arg)
c.*358A>G (n.*358A>G)
n.545A>G
c.*463A>G (n.*463A>G)
n.357A>G
c.131A>G (p.Lys44Arg)
c.395A>G (p.Lys132Arg)
n.387A>G
 dbSNP gnomAD v3 gnomAD v4
17g.67350326T>GCA400805615PSMD12c.308A>C (p.Lys103Thr)
c.248A>C (p.Lys83Thr)
c.*358A>C (n.*358A>C)
n.545A>C
c.*463A>C (n.*463A>C)
n.357A>C
c.131A>C (p.Lys44Thr)
c.395A>C (p.Lys132Thr)
n.387A>C
17g.67350326T=CA2271700395PSMD12c.308A= (p.Lys103=)
c.248A= (p.Lys83=)
c.*358A= (n.*358A=)
n.545A=
c.*463A= (n.*463A=)
n.357A=
c.131A= (p.Lys44=)
c.395A= (p.Lys132=)
n.387A=
17g.67350327T>ACA400805616PSMD12c.307A>T (p.Lys103Ter)
c.247A>T (p.Lys83Ter)
c.*357A>T (n.*357A>T)
n.544A>T
c.*462A>T (n.*462A>T)
n.356A>T
c.130A>T (p.Lys44Ter)
c.394A>T (p.Lys132Ter)
n.386A>T
17g.67350327T>CCA400805617PSMD12c.307A>G (p.Lys103Glu)
c.247A>G (p.Lys83Glu)
c.*357A>G (n.*357A>G)
n.544A>G
c.*462A>G (n.*462A>G)
n.356A>G
c.130A>G (p.Lys44Glu)
c.394A>G (p.Lys132Glu)
n.386A>G
 gnomAD v4
17g.67350327T>GCA400805618PSMD12c.307A>C (p.Lys103Gln)
c.247A>C (p.Lys83Gln)
c.*357A>C (n.*357A>C)
n.544A>C
c.*462A>C (n.*462A>C)
n.356A>C
c.130A>C (p.Lys44Gln)
c.394A>C (p.Lys132Gln)
n.386A>C
17g.67350328G>ACA501602552PSMD12c.306C>T (p.Ala102=)
c.246C>T (p.Ala82=)
c.*356C>T (n.*356C>T)
n.543C>T
c.*461C>T (n.*461C>T)
n.355C>T
c.129C>T (p.Ala43=)
c.393C>T (p.Ala131=)
n.385C>T
17g.67350328G>CCA501602554PSMD12c.306C>G (p.Ala102=)
c.246C>G (p.Ala82=)
c.*356C>G (n.*356C>G)
n.543C>G
c.*461C>G (n.*461C>G)
n.355C>G
c.129C>G (p.Ala43=)
c.393C>G (p.Ala131=)
n.385C>G
17g.67350328G>TCA501602553PSMD12c.306C>A (p.Ala102=)
c.246C>A (p.Ala82=)
c.*356C>A (n.*356C>A)
n.543C>A
c.*461C>A (n.*461C>A)
n.355C>A
c.129C>A (p.Ala43=)
c.393C>A (p.Ala131=)
n.385C>A
17g.67350329G>ACA400805620PSMD12c.305C>T (p.Ala102Val)
c.245C>T (p.Ala82Val)
c.*355C>T (n.*355C>T)
n.542C>T
c.*460C>T (n.*460C>T)
n.354C>T
c.128C>T (p.Ala43Val)
c.392C>T (p.Ala131Val)
n.384C>T
 gnomAD v4
17g.67350329G>CCA8723778PSMD12c.305C>G (p.Ala102Gly)
c.245C>G (p.Ala82Gly)
c.*355C>G (n.*355C>G)
n.542C>G
c.*460C>G (n.*460C>G)
n.354C>G
c.128C>G (p.Ala43Gly)
c.392C>G (p.Ala131Gly)
n.384C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67350329G=CA2271700396PSMD12c.305C= (p.Ala102=)
c.245C= (p.Ala82=)
c.*355C= (n.*355C=)
n.542C=
c.*460C= (n.*460C=)
n.354C=
c.128C= (p.Ala43=)
c.392C= (p.Ala131=)
n.384C=
17g.67350329G>TCA400805619PSMD12c.305C>A (p.Ala102Asp)
c.245C>A (p.Ala82Asp)
c.*355C>A (n.*355C>A)
n.542C>A
c.*460C>A (n.*460C>A)
n.354C>A
c.128C>A (p.Ala43Asp)
c.392C>A (p.Ala131Asp)
n.384C>A

Number of alleles fetched