Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.107649938A=CA2450376202PRPS1c.766-2A= (n.766-2A=)
c.248-2A=
c.865-2A= (n.865-2A=)
c.802-640A= (n.802-640A=)
c.*334-2A= (n.*334-2A=)
c.*558-2A= (n.*558-2A=)
c.457-2A=
c.22-678A=
c.359-2A= (n.359-2A=)
c.433-2A=
c.565-2A= (n.565-2A=)
c.253-2A= (n.253-2A=)
Xg.107649938A>CCA413815736PRPS1c.766-2A>C (n.766-2A>C)
c.248-2A>C
c.865-2A>C (n.865-2A>C)
c.802-640A>C (n.802-640A>C)
c.*334-2A>C (n.*334-2A>C)
c.*558-2A>C (n.*558-2A>C)
c.457-2A>C
c.22-678A>C
c.359-2A>C (n.359-2A>C)
c.433-2A>C
c.565-2A>C (n.565-2A>C)
c.253-2A>C (n.253-2A>C)
 dbSNP gnomAD v2
Xg.107649938A>GCA413815732PRPS1c.766-2A>G (n.766-2A>G)
c.248-2A>G
c.865-2A>G (n.865-2A>G)
c.802-640A>G (n.802-640A>G)
c.*334-2A>G (n.*334-2A>G)
c.*558-2A>G (n.*558-2A>G)
c.457-2A>G
c.22-678A>G
c.359-2A>G (n.359-2A>G)
c.433-2A>G
c.565-2A>G (n.565-2A>G)
c.253-2A>G (n.253-2A>G)
Xg.107649938A>TCA413815730PRPS1c.766-2A>T (n.766-2A>T)
c.248-2A>T
c.865-2A>T (n.865-2A>T)
c.802-640A>T (n.802-640A>T)
c.*334-2A>T (n.*334-2A>T)
c.*558-2A>T (n.*558-2A>T)
c.457-2A>T
c.22-678A>T
c.359-2A>T (n.359-2A>T)
c.433-2A>T
c.565-2A>T (n.565-2A>T)
c.253-2A>T (n.253-2A>T)
Xg.107649939G>ACA413815744PRPS1c.766-1G>A (n.766-1G>A)
c.248-1G>A
c.865-1G>A (n.865-1G>A)
c.802-639G>A (n.802-639G>A)
c.*334-1G>A (n.*334-1G>A)
c.*558-1G>A (n.*558-1G>A)
c.457-1G>A
c.22-677G>A
c.359-1G>A (n.359-1G>A)
c.433-1G>A
c.565-1G>A (n.565-1G>A)
c.253-1G>A (n.253-1G>A)
Xg.107649939G>CCA413815755PRPS1c.766-1G>C (n.766-1G>C)
c.248-1G>C
c.865-1G>C (n.865-1G>C)
c.802-639G>C (n.802-639G>C)
c.*334-1G>C (n.*334-1G>C)
c.*558-1G>C (n.*558-1G>C)
c.457-1G>C
c.22-677G>C
c.359-1G>C (n.359-1G>C)
c.433-1G>C
c.565-1G>C (n.565-1G>C)
c.253-1G>C (n.253-1G>C)
Xg.107649939G>TCA413815754PRPS1c.766-1G>T (n.766-1G>T)
c.248-1G>T
c.865-1G>T (n.865-1G>T)
c.802-639G>T (n.802-639G>T)
c.*334-1G>T (n.*334-1G>T)
c.*558-1G>T (n.*558-1G>T)
c.457-1G>T
c.22-677G>T
c.359-1G>T (n.359-1G>T)
c.433-1G>T
c.565-1G>T (n.565-1G>T)
c.253-1G>T (n.253-1G>T)
Xg.107649940G>ACA413815757PRPS1c.766G>A (p.Val256Met)
c.248G>A
c.865G>A (p.Val289Met)
c.802-638G>A (n.802-638G>A)
c.*334G>A (n.*334G>A)
c.*558G>A (n.*558G>A)
c.1G>A (p.Val1Met)
c.457G>A
c.22-676G>A
c.359G>A (p.Gly120Asp)
c.433G>A
c.565G>A (p.Val189Met)
c.253G>A (p.Val85Met)
Xg.107649940G>CCA413815766PRPS1c.766G>C (p.Val256Leu)
c.248G>C
c.865G>C (p.Val289Leu)
c.802-638G>C (n.802-638G>C)
c.*334G>C (n.*334G>C)
c.*558G>C (n.*558G>C)
c.1G>C (p.Val1Leu)
c.457G>C
c.22-676G>C
c.359G>C (p.Gly120Ala)
c.433G>C
c.565G>C (p.Val189Leu)
c.253G>C (p.Val85Leu)
Xg.107649940G>TCA413815761PRPS1c.766G>T (p.Val256Leu)
c.248G>T
c.865G>T (p.Val289Leu)
c.802-638G>T (n.802-638G>T)
c.*334G>T (n.*334G>T)
c.*558G>T (n.*558G>T)
c.1G>T (p.Val1Leu)
c.457G>T
c.22-676G>T
c.359G>T (p.Gly120Val)
c.433G>T
c.565G>T (p.Val189Leu)
c.253G>T (p.Val85Leu)
Xg.107649941T>ACA413815772PRPS1c.767T>A (p.Val256Glu)
c.249T>A
c.866T>A (p.Val289Glu)
c.802-637T>A (n.802-637T>A)
c.*335T>A (n.*335T>A)
c.*559T>A (n.*559T>A)
c.2T>A (p.Val1Glu)
c.458T>A
c.22-675T>A
c.360T>A (p.Gly120=)
c.434T>A
c.566T>A (p.Val189Glu)
c.254T>A (p.Val85Glu)
Xg.107649941T>CCA413815773PRPS1c.767T>C (p.Val256Ala)
c.249T>C
c.866T>C (p.Val289Ala)
c.802-637T>C (n.802-637T>C)
c.*335T>C (n.*335T>C)
c.*559T>C (n.*559T>C)
c.2T>C (p.Val1Ala)
c.458T>C
c.22-675T>C
c.360T>C (p.Gly120=)
c.434T>C
c.566T>C (p.Val189Ala)
c.254T>C (p.Val85Ala)
Xg.107649941T>GCA413815776PRPS1c.767T>G (p.Val256Gly)
c.249T>G
c.866T>G (p.Val289Gly)
c.802-637T>G (n.802-637T>G)
c.*335T>G (n.*335T>G)
c.*559T>G (n.*559T>G)
c.2T>G (p.Val1Gly)
c.458T>G
c.22-675T>G
c.360T>G (p.Gly120=)
c.434T>G
c.566T>G (p.Val189Gly)
c.254T>G (p.Val85Gly)
Xg.107649942G>ACA517921644PRPS1c.768G>A (p.Val256=)
c.250G>A
c.867G>A (p.Val289=)
c.802-636G>A (n.802-636G>A)
c.*336G>A (n.*336G>A)
c.*560G>A (n.*560G>A)
c.3G>A (p.Val1=)
c.459G>A
c.22-674G>A
c.361G>A (p.Asp121Asn)
c.435G>A
c.567G>A (p.Val189=)
c.255G>A (p.Val85=)
 ClinVar dbSNP
Xg.107649942G>CCA517921645PRPS1c.768G>C (p.Val256=)
c.250G>C
c.867G>C (p.Val289=)
c.802-636G>C (n.802-636G>C)
c.*336G>C (n.*336G>C)
c.*560G>C (n.*560G>C)
c.3G>C (p.Val1=)
c.459G>C
c.22-674G>C
c.361G>C (p.Asp121His)
c.435G>C
c.567G>C (p.Val189=)
c.255G>C (p.Val85=)
Xg.107649942G>TCA517921646PRPS1c.768G>T (p.Val256=)
c.250G>T
c.867G>T (p.Val289=)
c.802-636G>T (n.802-636G>T)
c.*336G>T (n.*336G>T)
c.*560G>T (n.*560G>T)
c.3G>T (p.Val1=)
c.459G>T
c.22-674G>T
c.361G>T (p.Asp121Tyr)
c.435G>T
c.567G>T (p.Val189=)
c.255G>T (p.Val85=)
Xg.107649943A=CA2450376203PRPS1c.769A= (p.Ile257=)
c.251A=
c.868A= (p.Ile290=)
c.802-635A= (n.802-635A=)
c.*337A= (n.*337A=)
c.*561A= (n.*561A=)
c.4A= (p.Ile2=)
c.460A=
c.22-673A=
c.362A= (p.Asp121=)
c.436A=
c.568A= (p.Ile190=)
c.256A= (p.Ile86=)
Xg.107649943A>CCA413815780PRPS1c.769A>C (p.Ile257Leu)
c.251A>C
c.868A>C (p.Ile290Leu)
c.802-635A>C (n.802-635A>C)
c.*337A>C (n.*337A>C)
c.*561A>C (n.*561A>C)
c.4A>C (p.Ile2Leu)
c.460A>C
c.22-673A>C
c.362A>C (p.Asp121Ala)
c.436A>C
c.568A>C (p.Ile190Leu)
c.256A>C (p.Ile86Leu)
Xg.107649943A>GCA413815786PRPS1c.769A>G (p.Ile257Val)
c.251A>G
c.868A>G (p.Ile290Val)
c.802-635A>G (n.802-635A>G)
c.*337A>G (n.*337A>G)
c.*561A>G (n.*561A>G)
c.4A>G (p.Ile2Val)
c.460A>G
c.22-673A>G
c.362A>G (p.Asp121Gly)
c.436A>G
c.568A>G (p.Ile190Val)
c.256A>G (p.Ile86Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.107649943A>TCA413815795PRPS1c.769A>T (p.Ile257Phe)
c.251A>T
c.868A>T (p.Ile290Phe)
c.802-635A>T (n.802-635A>T)
c.*337A>T (n.*337A>T)
c.*561A>T (n.*561A>T)
c.4A>T (p.Ile2Phe)
c.460A>T
c.22-673A>T
c.362A>T (p.Asp121Val)
c.436A>T
c.568A>T (p.Ile190Phe)
c.256A>T (p.Ile86Phe)
Xg.107649944T>ACA413815804PRPS1c.770T>A (p.Ile257Asn)
c.252T>A
c.869T>A (p.Ile290Asn)
c.802-634T>A (n.802-634T>A)
c.*338T>A (n.*338T>A)
c.*562T>A (n.*562T>A)
c.5T>A (p.Ile2Asn)
c.461T>A
c.22-672T>A
c.363T>A (p.Asp121Glu)
c.437T>A
c.569T>A (p.Ile190Asn)
c.257T>A (p.Ile86Asn)
Xg.107649944T>CCA254951PRPS1c.770T>C (p.Ile257Thr)
c.252T>C
c.869T>C (p.Ile290Thr)
c.802-634T>C (n.802-634T>C)
c.*338T>C (n.*338T>C)
c.*562T>C (n.*562T>C)
c.5T>C (p.Ile2Thr)
c.461T>C
c.22-672T>C
c.363T>C (p.Asp121=)
c.437T>C
c.569T>C (p.Ile190Thr)
c.257T>C (p.Ile86Thr)
 ClinVar dbSNP
Xg.107649944T>GCA413815801PRPS1c.770T>G (p.Ile257Ser)
c.252T>G
c.869T>G (p.Ile290Ser)
c.802-634T>G (n.802-634T>G)
c.*338T>G (n.*338T>G)
c.*562T>G (n.*562T>G)
c.5T>G (p.Ile2Ser)
c.461T>G
c.22-672T>G
c.363T>G (p.Asp121Glu)
c.437T>G
c.569T>G (p.Ile190Ser)
c.257T>G (p.Ile86Ser)
Xg.107649944T=CA2450376204PRPS1c.770T= (p.Ile257=)
c.252T=
c.869T= (p.Ile290=)
c.802-634T= (n.802-634T=)
c.*338T= (n.*338T=)
c.*562T= (n.*562T=)
c.5T= (p.Ile2=)
c.461T=
c.22-672T=
c.363T= (p.Asp121=)
c.437T=
c.569T= (p.Ile190=)
c.257T= (p.Ile86=)
Xg.107649945T>ACA517921647PRPS1c.771T>A (p.Ile257=)
c.253T>A
c.870T>A (p.Ile290=)
c.802-633T>A (n.802-633T>A)
c.*339T>A (n.*339T>A)
c.*563T>A (n.*563T>A)
c.6T>A (p.Ile2=)
c.462T>A
c.22-671T>A
c.364T>A (p.Ter122Arg)
c.438T>A
c.570T>A (p.Ile190=)
c.258T>A (p.Ile86=)
Xg.107649945T>CCA10485694PRPS1c.771T>C (p.Ile257=)
c.253T>C
c.870T>C (p.Ile290=)
c.802-633T>C (n.802-633T>C)
c.*339T>C (n.*339T>C)
c.*563T>C (n.*563T>C)
c.6T>C (p.Ile2=)
c.462T>C
c.22-671T>C
c.364T>C (p.Ter122Arg)
c.438T>C
c.570T>C (p.Ile190=)
c.258T>C (p.Ile86=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.107649945T>GCA413815838PRPS1c.771T>G (p.Ile257Met)
c.253T>G
c.870T>G (p.Ile290Met)
c.802-633T>G (n.802-633T>G)
c.*339T>G (n.*339T>G)
c.*563T>G (n.*563T>G)
c.6T>G (p.Ile2Met)
c.462T>G
c.22-671T>G
c.364T>G (p.Ter122Gly)
c.438T>G
c.570T>G (p.Ile190Met)
c.258T>G (p.Ile86Met)
Xg.107649945T=CA2450376205PRPS1c.771T= (p.Ile257=)
c.253T=
c.870T= (p.Ile290=)
c.802-633T= (n.802-633T=)
c.*339T= (n.*339T=)
c.*563T= (n.*563T=)
c.6T= (p.Ile2=)
c.462T=
c.22-671T=
c.364T= (p.Ter122=)
c.438T=
c.570T= (p.Ile190=)
c.258T= (p.Ile86=)
Xg.107649946G>ACA413815845PRPS1c.772G>A (p.Asp258Asn)
c.254G>A
c.871G>A (p.Asp291Asn)
c.802-632G>A (n.802-632G>A)
c.*340G>A (n.*340G>A)
c.*564G>A (n.*564G>A)
c.7G>A (p.Asp3Asn)
c.463G>A
c.22-670G>A
c.365G>A (p.Ter122=)
c.439G>A
c.571G>A (p.Asp191Asn)
c.259G>A (p.Asp87Asn)
Xg.107649946G>CCA413815850PRPS1c.772G>C (p.Asp258His)
c.254G>C
c.871G>C (p.Asp291His)
c.802-632G>C (n.802-632G>C)
c.*340G>C (n.*340G>C)
c.*564G>C (n.*564G>C)
c.7G>C (p.Asp3His)
c.463G>C
c.22-670G>C
c.365G>C (p.Ter122Ser)
c.439G>C
c.571G>C (p.Asp191His)
c.259G>C (p.Asp87His)
Xg.107649946G>TCA413815854PRPS1c.772G>T (p.Asp258Tyr)
c.254G>T
c.871G>T (p.Asp291Tyr)
c.802-632G>T (n.802-632G>T)
c.*340G>T (n.*340G>T)
c.*564G>T (n.*564G>T)
c.7G>T (p.Asp3Tyr)
c.463G>T
c.22-670G>T
c.365G>T (p.Ter122Leu)
c.439G>T
c.571G>T (p.Asp191Tyr)
c.259G>T (p.Asp87Tyr)
Xg.107649947A>CCA413815862PRPS1c.773A>C (p.Asp258Ala)
c.255A>C
c.872A>C (p.Asp291Ala)
c.802-631A>C (n.802-631A>C)
c.*341A>C (n.*341A>C)
c.*565A>C (n.*565A>C)
c.8A>C (p.Asp3Ala)
c.464A>C
c.22-669A>C
c.366A>C (p.Ter122Cys)
c.440A>C
c.572A>C (p.Asp191Ala)
c.260A>C (p.Asp87Ala)
Xg.107649947A>GCA413815867PRPS1c.773A>G (p.Asp258Gly)
c.255A>G
c.872A>G (p.Asp291Gly)
c.802-631A>G (n.802-631A>G)
c.*341A>G (n.*341A>G)
c.*565A>G (n.*565A>G)
c.8A>G (p.Asp3Gly)
c.464A>G
c.22-669A>G
c.366A>G (p.Ter122Trp)
c.440A>G
c.572A>G (p.Asp191Gly)
c.260A>G (p.Asp87Gly)
Xg.107649947A>TCA413815866PRPS1c.773A>T (p.Asp258Val)
c.255A>T
c.872A>T (p.Asp291Val)
c.802-631A>T (n.802-631A>T)
c.*341A>T (n.*341A>T)
c.*565A>T (n.*565A>T)
c.8A>T (p.Asp3Val)
c.464A>T
c.22-669A>T
c.366A>T (p.Ter122Cys)
c.440A>T
c.572A>T (p.Asp191Val)
c.260A>T (p.Asp87Val)
Xg.107649948C>ACA413815873PRPS1c.774C>A (p.Asp258Glu)
c.256C>A
c.873C>A (p.Asp291Glu)
c.802-630C>A (n.802-630C>A)
c.*342C>A (n.*342C>A)
c.*566C>A (n.*566C>A)
c.9C>A (p.Asp3Glu)
c.465C>A
c.22-668C>A
c.*1C>A (n.*1C>A)
c.441C>A
c.573C>A (p.Asp191Glu)
c.261C>A (p.Asp87Glu)
Xg.107649948C=CA2450376206PRPS1c.774C= (p.Asp258=)
c.256C=
c.873C= (p.Asp291=)
c.802-630C= (n.802-630C=)
c.*342C= (n.*342C=)
c.*566C= (n.*566C=)
c.9C= (p.Asp3=)
c.465C=
c.22-668C=
c.*1C= (n.*1C=)
c.441C=
c.573C= (p.Asp191=)
c.261C= (p.Asp87=)
Xg.107649948C>GCA413815875PRPS1c.774C>G (p.Asp258Glu)
c.256C>G
c.873C>G (p.Asp291Glu)
c.802-630C>G (n.802-630C>G)
c.*342C>G (n.*342C>G)
c.*566C>G (n.*566C>G)
c.9C>G (p.Asp3Glu)
c.465C>G
c.22-668C>G
c.*1C>G (n.*1C>G)
c.441C>G
c.573C>G (p.Asp191Glu)
c.261C>G (p.Asp87Glu)
Xg.107649948C>TCA517921648PRPS1c.774C>T (p.Asp258=)
c.256C>T
c.873C>T (p.Asp291=)
c.802-630C>T (n.802-630C>T)
c.*342C>T (n.*342C>T)
c.*566C>T (n.*566C>T)
c.9C>T (p.Asp3=)
c.465C>T
c.22-668C>T
c.*1C>T (n.*1C>T)
c.441C>T
c.573C>T (p.Asp191=)
c.261C>T (p.Asp87=)
 dbSNP gnomAD v3 gnomAD v4
Xg.107649949A>CCA413815877PRPS1c.775A>C (p.Ile259Leu)
c.257A>C
c.874A>C (p.Ile292Leu)
c.802-629A>C (n.802-629A>C)
c.*343A>C (n.*343A>C)
c.*567A>C (n.*567A>C)
c.10A>C (p.Ile4Leu)
c.466A>C
c.22-667A>C
c.*2A>C (n.*2A>C)
c.442A>C
c.574A>C (p.Ile192Leu)
c.262A>C (p.Ile88Leu)
Xg.107649949A>GCA413815879PRPS1c.775A>G (p.Ile259Val)
c.257A>G
c.874A>G (p.Ile292Val)
c.802-629A>G (n.802-629A>G)
c.*343A>G (n.*343A>G)
c.*567A>G (n.*567A>G)
c.10A>G (p.Ile4Val)
c.466A>G
c.22-667A>G
c.*2A>G (n.*2A>G)
c.442A>G
c.574A>G (p.Ile192Val)
c.262A>G (p.Ile88Val)
Xg.107649949A>TCA413815881PRPS1c.775A>T (p.Ile259Phe)
c.257A>T
c.874A>T (p.Ile292Phe)
c.802-629A>T (n.802-629A>T)
c.*343A>T (n.*343A>T)
c.*567A>T (n.*567A>T)
c.10A>T (p.Ile4Phe)
c.466A>T
c.22-667A>T
c.*2A>T (n.*2A>T)
c.442A>T
c.574A>T (p.Ile192Phe)
c.262A>T (p.Ile88Phe)
Xg.107649950T>ACA413815882PRPS1c.776T>A (p.Ile259Asn)
c.258T>A
c.875T>A (p.Ile292Asn)
c.802-628T>A (n.802-628T>A)
c.*344T>A (n.*344T>A)
c.*568T>A (n.*568T>A)
c.11T>A (p.Ile4Asn)
c.467T>A
c.22-666T>A
c.*3T>A (n.*3T>A)
c.443T>A
c.575T>A (p.Ile192Asn)
c.263T>A (p.Ile88Asn)
Xg.107649950T>CCA413815886PRPS1c.776T>C (p.Ile259Thr)
c.258T>C
c.875T>C (p.Ile292Thr)
c.802-628T>C (n.802-628T>C)
c.*344T>C (n.*344T>C)
c.*568T>C (n.*568T>C)
c.11T>C (p.Ile4Thr)
c.467T>C
c.22-666T>C
c.*3T>C (n.*3T>C)
c.443T>C
c.575T>C (p.Ile192Thr)
c.263T>C (p.Ile88Thr)
Xg.107649950T>GCA413815889PRPS1c.776T>G (p.Ile259Ser)
c.258T>G
c.875T>G (p.Ile292Ser)
c.802-628T>G (n.802-628T>G)
c.*344T>G (n.*344T>G)
c.*568T>G (n.*568T>G)
c.11T>G (p.Ile4Ser)
c.467T>G
c.22-666T>G
c.*3T>G (n.*3T>G)
c.443T>G
c.575T>G (p.Ile192Ser)
c.263T>G (p.Ile88Ser)
Xg.107649951C>ACA517921649PRPS1c.777C>A (p.Ile259=)
c.259C>A
c.876C>A (p.Ile292=)
c.802-627C>A (n.802-627C>A)
c.*345C>A (n.*345C>A)
c.*569C>A (n.*569C>A)
c.12C>A (p.Ile4=)
c.468C>A
c.22-665C>A
c.*4C>A (n.*4C>A)
c.444C>A
c.576C>A (p.Ile192=)
c.264C>A (p.Ile88=)
Xg.107649951C=CA2450376207PRPS1c.777C= (p.Ile259=)
c.259C=
c.876C= (p.Ile292=)
c.802-627C= (n.802-627C=)
c.*345C= (n.*345C=)
c.*569C= (n.*569C=)
c.12C= (p.Ile4=)
c.468C=
c.22-665C=
c.*4C= (n.*4C=)
c.444C=
c.576C= (p.Ile192=)
c.264C= (p.Ile88=)
Xg.107649951C>GCA413815897PRPS1c.777C>G (p.Ile259Met)
c.259C>G
c.876C>G (p.Ile292Met)
c.802-627C>G (n.802-627C>G)
c.*345C>G (n.*345C>G)
c.*569C>G (n.*569C>G)
c.12C>G (p.Ile4Met)
c.468C>G
c.22-665C>G
c.*4C>G (n.*4C>G)
c.444C>G
c.576C>G (p.Ile192Met)
c.264C>G (p.Ile88Met)
Xg.107649951C>TCA10485695PRPS1c.777C>T (p.Ile259=)
c.259C>T
c.876C>T (p.Ile292=)
c.802-627C>T (n.802-627C>T)
c.*345C>T (n.*345C>T)
c.*569C>T (n.*569C>T)
c.12C>T (p.Ile4=)
c.468C>T
c.22-665C>T
c.*4C>T (n.*4C>T)
c.444C>T
c.576C>T (p.Ile192=)
c.264C>T (p.Ile88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.107649952T>ACA413815898PRPS1c.778T>A (p.Ser260Thr)
c.260T>A
c.877T>A (p.Ser293Thr)
c.802-626T>A (n.802-626T>A)
c.*346T>A (n.*346T>A)
c.*570T>A (n.*570T>A)
c.13T>A (p.Ser5Thr)
c.469T>A
c.22-664T>A
c.*5T>A (n.*5T>A)
c.445T>A
c.577T>A (p.Ser193Thr)
c.265T>A (p.Ser89Thr)
Xg.107649952T>CCA413815909PRPS1c.778T>C (p.Ser260Pro)
c.260T>C
c.877T>C (p.Ser293Pro)
c.802-626T>C (n.802-626T>C)
c.*346T>C (n.*346T>C)
c.*570T>C (n.*570T>C)
c.13T>C (p.Ser5Pro)
c.469T>C
c.22-664T>C
c.*5T>C (n.*5T>C)
c.445T>C
c.577T>C (p.Ser193Pro)
c.265T>C (p.Ser89Pro)
Xg.107649952T>GCA413815903PRPS1c.778T>G (p.Ser260Ala)
c.260T>G
c.877T>G (p.Ser293Ala)
c.802-626T>G (n.802-626T>G)
c.*346T>G (n.*346T>G)
c.*570T>G (n.*570T>G)
c.13T>G (p.Ser5Ala)
c.469T>G
c.22-664T>G
c.*5T>G (n.*5T>G)
c.445T>G
c.577T>G (p.Ser193Ala)
c.265T>G (p.Ser89Ala)
Xg.107649953C>ACA413815916PRPS1c.779C>A (p.Ser260Tyr)
c.261C>A
c.878C>A (p.Ser293Tyr)
c.802-625C>A (n.802-625C>A)
c.*347C>A (n.*347C>A)
c.*571C>A (n.*571C>A)
c.14C>A (p.Ser5Tyr)
c.470C>A
c.22-663C>A
c.*6C>A (n.*6C>A)
c.446C>A
c.578C>A (p.Ser193Tyr)
c.266C>A (p.Ser89Tyr)
Xg.107649953C>GCA413815922PRPS1c.779C>G (p.Ser260Cys)
c.261C>G
c.878C>G (p.Ser293Cys)
c.802-625C>G (n.802-625C>G)
c.*347C>G (n.*347C>G)
c.*571C>G (n.*571C>G)
c.14C>G (p.Ser5Cys)
c.470C>G
c.22-663C>G
c.*6C>G (n.*6C>G)
c.446C>G
c.578C>G (p.Ser193Cys)
c.266C>G (p.Ser89Cys)
Xg.107649953C>TCA413815926PRPS1c.779C>T (p.Ser260Phe)
c.261C>T
c.878C>T (p.Ser293Phe)
c.802-625C>T (n.802-625C>T)
c.*347C>T (n.*347C>T)
c.*571C>T (n.*571C>T)
c.14C>T (p.Ser5Phe)
c.470C>T
c.22-663C>T
c.*6C>T (n.*6C>T)
c.446C>T
c.578C>T (p.Ser193Phe)
c.266C>T (p.Ser89Phe)
Xg.107649954T>ACA517921650PRPS1c.780T>A (p.Ser260=)
c.262T>A
c.879T>A (p.Ser293=)
c.802-624T>A (n.802-624T>A)
c.*348T>A (n.*348T>A)
c.*572T>A (n.*572T>A)
c.15T>A (p.Ser5=)
c.471T>A
c.22-662T>A
c.*7T>A (n.*7T>A)
c.447T>A
c.579T>A (p.Ser193=)
c.267T>A (p.Ser89=)
 dbSNP
Xg.107649954T>CCA517921651PRPS1c.780T>C (p.Ser260=)
c.262T>C
c.879T>C (p.Ser293=)
c.802-624T>C (n.802-624T>C)
c.*348T>C (n.*348T>C)
c.*572T>C (n.*572T>C)
c.15T>C (p.Ser5=)
c.471T>C
c.22-662T>C
c.*7T>C (n.*7T>C)
c.447T>C
c.579T>C (p.Ser193=)
c.267T>C (p.Ser89=)
Xg.107649954T>GCA517921652PRPS1c.780T>G (p.Ser260=)
c.262T>G
c.879T>G (p.Ser293=)
c.802-624T>G (n.802-624T>G)
c.*348T>G (n.*348T>G)
c.*572T>G (n.*572T>G)
c.15T>G (p.Ser5=)
c.471T>G
c.22-662T>G
c.*7T>G (n.*7T>G)
c.447T>G
c.579T>G (p.Ser193=)
c.267T>G (p.Ser89=)
Xg.107649954T=CA2450376208PRPS1c.780T= (p.Ser260=)
c.262T=
c.879T= (p.Ser293=)
c.802-624T= (n.802-624T=)
c.*348T= (n.*348T=)
c.*572T= (n.*572T=)
c.15T= (p.Ser5=)
c.471T=
c.22-662T=
c.*7T= (n.*7T=)
c.447T=
c.579T= (p.Ser193=)
c.267T= (p.Ser89=)
Xg.107649955A>CCA413815930PRPS1c.781A>C (p.Met261Leu)
c.263A>C
c.880A>C (p.Met294Leu)
c.802-623A>C (n.802-623A>C)
c.*349A>C (n.*349A>C)
c.*573A>C (n.*573A>C)
c.16A>C (p.Met6Leu)
c.472A>C
c.22-661A>C
c.*8A>C (n.*8A>C)
c.448A>C
c.580A>C (p.Met194Leu)
c.268A>C (p.Met90Leu)
Xg.107649955A>GCA413815934PRPS1c.781A>G (p.Met261Val)
c.263A>G
c.880A>G (p.Met294Val)
c.802-623A>G (n.802-623A>G)
c.*349A>G (n.*349A>G)
c.*573A>G (n.*573A>G)
c.16A>G (p.Met6Val)
c.472A>G
c.22-661A>G
c.*8A>G (n.*8A>G)
c.448A>G
c.580A>G (p.Met194Val)
c.268A>G (p.Met90Val)
Xg.107649955A>TCA413815940PRPS1c.781A>T (p.Met261Leu)
c.263A>T
c.880A>T (p.Met294Leu)
c.802-623A>T (n.802-623A>T)
c.*349A>T (n.*349A>T)
c.*573A>T (n.*573A>T)
c.16A>T (p.Met6Leu)
c.472A>T
c.22-661A>T
c.*8A>T (n.*8A>T)
c.448A>T
c.580A>T (p.Met194Leu)
c.268A>T (p.Met90Leu)
Xg.107649956T>ACA413815944PRPS1c.782T>A (p.Met261Lys)
c.264T>A
c.881T>A (p.Met294Lys)
c.802-622T>A (n.802-622T>A)
c.*350T>A (n.*350T>A)
c.*574T>A (n.*574T>A)
c.17T>A (p.Met6Lys)
c.473T>A
c.22-660T>A
c.*9T>A (n.*9T>A)
c.449T>A
c.581T>A (p.Met194Lys)
c.269T>A (p.Met90Lys)
Xg.107649956T>CCA413815946PRPS1c.782T>C (p.Met261Thr)
c.264T>C
c.881T>C (p.Met294Thr)
c.802-622T>C (n.802-622T>C)
c.*350T>C (n.*350T>C)
c.*574T>C (n.*574T>C)
c.17T>C (p.Met6Thr)
c.473T>C
c.22-660T>C
c.*9T>C (n.*9T>C)
c.449T>C
c.581T>C (p.Met194Thr)
c.269T>C (p.Met90Thr)
Xg.107649956T>GCA413815959PRPS1c.782T>G (p.Met261Arg)
c.264T>G
c.881T>G (p.Met294Arg)
c.802-622T>G (n.802-622T>G)
c.*350T>G (n.*350T>G)
c.*574T>G (n.*574T>G)
c.17T>G (p.Met6Arg)
c.473T>G
c.22-660T>G
c.*9T>G (n.*9T>G)
c.449T>G
c.581T>G (p.Met194Arg)
c.269T>G (p.Met90Arg)
Xg.107649957G>ACA413815961PRPS1c.783G>A (p.Met261Ile)
c.265G>A
c.882G>A (p.Met294Ile)
c.802-621G>A (n.802-621G>A)
c.*351G>A (n.*351G>A)
c.*575G>A (n.*575G>A)
c.18G>A (p.Met6Ile)
c.474G>A
c.22-659G>A
c.*10G>A (n.*10G>A)
c.450G>A
c.582G>A (p.Met194Ile)
c.270G>A (p.Met90Ile)
Xg.107649957G>CCA413815962PRPS1c.783G>C (p.Met261Ile)
c.265G>C
c.882G>C (p.Met294Ile)
c.802-621G>C (n.802-621G>C)
c.*351G>C (n.*351G>C)
c.*575G>C (n.*575G>C)
c.18G>C (p.Met6Ile)
c.474G>C
c.22-659G>C
c.*10G>C (n.*10G>C)
c.450G>C
c.582G>C (p.Met194Ile)
c.270G>C (p.Met90Ile)
Xg.107649957G>TCA413815965PRPS1c.783G>T (p.Met261Ile)
c.265G>T
c.882G>T (p.Met294Ile)
c.802-621G>T (n.802-621G>T)
c.*351G>T (n.*351G>T)
c.*575G>T (n.*575G>T)
c.18G>T (p.Met6Ile)
c.474G>T
c.22-659G>T
c.*10G>T (n.*10G>T)
c.450G>T
c.582G>T (p.Met194Ile)
c.270G>T (p.Met90Ile)
Xg.107649958A>CCA413815970PRPS1c.784A>C (p.Ile262Leu)
c.266A>C
c.883A>C (p.Ile295Leu)
c.802-620A>C (n.802-620A>C)
c.*352A>C (n.*352A>C)
c.*576A>C (n.*576A>C)
c.19A>C (p.Ile7Leu)
c.475A>C
c.22-658A>C
c.*11A>C (n.*11A>C)
c.451A>C
c.583A>C (p.Ile195Leu)
c.271A>C (p.Ile91Leu)
Xg.107649958A>GCA413815995PRPS1c.784A>G (p.Ile262Val)
c.266A>G
c.883A>G (p.Ile295Val)
c.802-620A>G (n.802-620A>G)
c.*352A>G (n.*352A>G)
c.*576A>G (n.*576A>G)
c.19A>G (p.Ile7Val)
c.475A>G
c.22-658A>G
c.*11A>G (n.*11A>G)
c.451A>G
c.583A>G (p.Ile195Val)
c.271A>G (p.Ile91Val)
Xg.107649958A>TCA413815994PRPS1c.784A>T (p.Ile262Phe)
c.266A>T
c.883A>T (p.Ile295Phe)
c.802-620A>T (n.802-620A>T)
c.*352A>T (n.*352A>T)
c.*576A>T (n.*576A>T)
c.19A>T (p.Ile7Phe)
c.475A>T
c.22-658A>T
c.*11A>T (n.*11A>T)
c.451A>T
c.583A>T (p.Ile195Phe)
c.271A>T (p.Ile91Phe)
Xg.107649959T>ACA413815996PRPS1c.785T>A (p.Ile262Asn)
c.267T>A
c.884T>A (p.Ile295Asn)
c.802-619T>A (n.802-619T>A)
c.*353T>A (n.*353T>A)
c.*577T>A (n.*577T>A)
c.20T>A (p.Ile7Asn)
c.476T>A
c.22-657T>A
c.*12T>A (n.*12T>A)
c.452T>A
c.584T>A (p.Ile195Asn)
c.272T>A (p.Ile91Asn)
Xg.107649959T>CCA413815998PRPS1c.785T>C (p.Ile262Thr)
c.267T>C
c.884T>C (p.Ile295Thr)
c.802-619T>C (n.802-619T>C)
c.*353T>C (n.*353T>C)
c.*577T>C (n.*577T>C)
c.20T>C (p.Ile7Thr)
c.476T>C
c.22-657T>C
c.*12T>C (n.*12T>C)
c.452T>C
c.584T>C (p.Ile195Thr)
c.272T>C (p.Ile91Thr)
Xg.107649959T>GCA413816001PRPS1c.785T>G (p.Ile262Ser)
c.267T>G
c.884T>G (p.Ile295Ser)
c.802-619T>G (n.802-619T>G)
c.*353T>G (n.*353T>G)
c.*577T>G (n.*577T>G)
c.20T>G (p.Ile7Ser)
c.476T>G
c.22-657T>G
c.*12T>G (n.*12T>G)
c.452T>G
c.584T>G (p.Ile195Ser)
c.272T>G (p.Ile91Ser)
Xg.107649960C>ACA517921653PRPS1c.786C>A (p.Ile262=)
c.268C>A
c.885C>A (p.Ile295=)
c.802-618C>A (n.802-618C>A)
c.*354C>A (n.*354C>A)
c.*578C>A (n.*578C>A)
c.21C>A (p.Ile7=)
c.477C>A
c.22-656C>A
c.*13C>A (n.*13C>A)
c.453C>A
c.585C>A (p.Ile195=)
c.273C>A (p.Ile91=)
Xg.107649960C>GCA413816017PRPS1c.786C>G (p.Ile262Met)
c.268C>G
c.885C>G (p.Ile295Met)
c.802-618C>G (n.802-618C>G)
c.*354C>G (n.*354C>G)
c.*578C>G (n.*578C>G)
c.21C>G (p.Ile7Met)
c.477C>G
c.22-656C>G
c.*13C>G (n.*13C>G)
c.453C>G
c.585C>G (p.Ile195Met)
c.273C>G (p.Ile91Met)
Xg.107649960C>TCA517921654PRPS1c.786C>T (p.Ile262=)
c.268C>T
c.885C>T (p.Ile295=)
c.802-618C>T (n.802-618C>T)
c.*354C>T (n.*354C>T)
c.*578C>T (n.*578C>T)
c.21C>T (p.Ile7=)
c.477C>T
c.22-656C>T
c.*13C>T (n.*13C>T)
c.453C>T
c.585C>T (p.Ile195=)
c.273C>T (p.Ile91=)
Xg.107649961C>ACA413816024PRPS1c.787C>A (p.Leu263Ile)
c.269C>A
c.886C>A (p.Leu296Ile)
c.802-617C>A (n.802-617C>A)
c.*355C>A (n.*355C>A)
c.*579C>A (n.*579C>A)
c.22C>A (p.Leu8Ile)
c.478C>A
c.22-655C>A
c.*14C>A (n.*14C>A)
c.454C>A
c.586C>A (p.Leu196Ile)
c.274C>A (p.Leu92Ile)
Xg.107649961C>GCA413816030PRPS1c.787C>G (p.Leu263Val)
c.269C>G
c.886C>G (p.Leu296Val)
c.802-617C>G (n.802-617C>G)
c.*355C>G (n.*355C>G)
c.*579C>G (n.*579C>G)
c.22C>G (p.Leu8Val)
c.478C>G
c.22-655C>G
c.*14C>G (n.*14C>G)
c.454C>G
c.586C>G (p.Leu196Val)
c.274C>G (p.Leu92Val)
Xg.107649961C>TCA413816033PRPS1c.787C>T (p.Leu263Phe)
c.269C>T
c.886C>T (p.Leu296Phe)
c.802-617C>T (n.802-617C>T)
c.*355C>T (n.*355C>T)
c.*579C>T (n.*579C>T)
c.22C>T (p.Leu8Phe)
c.478C>T
c.22-655C>T
c.*14C>T (n.*14C>T)
c.454C>T
c.586C>T (p.Leu196Phe)
c.274C>T (p.Leu92Phe)
Xg.107649962T>ACA413816037PRPS1c.788T>A (p.Leu263His)
c.270T>A
c.887T>A (p.Leu296His)
c.802-616T>A (n.802-616T>A)
c.*356T>A (n.*356T>A)
c.*580T>A (n.*580T>A)
c.23T>A (p.Leu8His)
c.479T>A
c.22-654T>A
c.*15T>A (n.*15T>A)
c.455T>A
c.587T>A (p.Leu196His)
c.275T>A (p.Leu92His)
Xg.107649962T>CCA413816041PRPS1c.788T>C (p.Leu263Pro)
c.270T>C
c.887T>C (p.Leu296Pro)
c.802-616T>C (n.802-616T>C)
c.*356T>C (n.*356T>C)
c.*580T>C (n.*580T>C)
c.23T>C (p.Leu8Pro)
c.479T>C
c.22-654T>C
c.*15T>C (n.*15T>C)
c.455T>C
c.587T>C (p.Leu196Pro)
c.275T>C (p.Leu92Pro)
Xg.107649962T>GCA413816053PRPS1c.788T>G (p.Leu263Arg)
c.270T>G
c.887T>G (p.Leu296Arg)
c.802-616T>G (n.802-616T>G)
c.*356T>G (n.*356T>G)
c.*580T>G (n.*580T>G)
c.23T>G (p.Leu8Arg)
c.479T>G
c.22-654T>G
c.*15T>G (n.*15T>G)
c.455T>G
c.587T>G (p.Leu196Arg)
c.275T>G (p.Leu92Arg)
Xg.107649963T>ACA517921655PRPS1c.789T>A (p.Leu263=)
c.271T>A
c.888T>A (p.Leu296=)
c.802-615T>A (n.802-615T>A)
c.*357T>A (n.*357T>A)
c.*581T>A (n.*581T>A)
c.24T>A (p.Leu8=)
c.480T>A
c.22-653T>A
c.*16T>A (n.*16T>A)
c.456T>A
c.588T>A (p.Leu196=)
c.276T>A (p.Leu92=)
Xg.107649963T>CCA517921656PRPS1c.789T>C (p.Leu263=)
c.271T>C
c.888T>C (p.Leu296=)
c.802-615T>C (n.802-615T>C)
c.*357T>C (n.*357T>C)
c.*581T>C (n.*581T>C)
c.24T>C (p.Leu8=)
c.480T>C
c.22-653T>C
c.*16T>C (n.*16T>C)
c.456T>C
c.588T>C (p.Leu196=)
c.276T>C (p.Leu92=)
Xg.107649963T>GCA517921657PRPS1c.789T>G (p.Leu263=)
c.271T>G
c.888T>G (p.Leu296=)
c.802-615T>G (n.802-615T>G)
c.*357T>G (n.*357T>G)
c.*581T>G (n.*581T>G)
c.24T>G (p.Leu8=)
c.480T>G
c.22-653T>G
c.*16T>G (n.*16T>G)
c.456T>G
c.588T>G (p.Leu196=)
c.276T>G (p.Leu92=)
Xg.107649964G>ACA333061363PRPS1c.790G>A (p.Ala264Thr)
c.272G>A
c.889G>A (p.Ala297Thr)
c.802-614G>A (n.802-614G>A)
c.*358G>A (n.*358G>A)
c.*582G>A (n.*582G>A)
c.25G>A (p.Ala9Thr)
c.481G>A
c.22-652G>A
c.*17G>A (n.*17G>A)
c.457G>A
c.589G>A (p.Ala197Thr)
c.277G>A (p.Ala93Thr)
 dbSNP
Xg.107649964G>CCA413816058PRPS1c.790G>C (p.Ala264Pro)
c.272G>C
c.889G>C (p.Ala297Pro)
c.802-614G>C (n.802-614G>C)
c.*358G>C (n.*358G>C)
c.*582G>C (n.*582G>C)
c.25G>C (p.Ala9Pro)
c.481G>C
c.22-652G>C
c.*17G>C (n.*17G>C)
c.457G>C
c.589G>C (p.Ala197Pro)
c.277G>C (p.Ala93Pro)
Xg.107649964G=CA2450376209PRPS1c.790G= (p.Ala264=)
c.272G=
c.889G= (p.Ala297=)
c.802-614G= (n.802-614G=)
c.*358G= (n.*358G=)
c.*582G= (n.*582G=)
c.25G= (p.Ala9=)
c.481G=
c.22-652G=
c.*17G= (n.*17G=)
c.457G=
c.589G= (p.Ala197=)
c.277G= (p.Ala93=)
Xg.107649964G>TCA413816057PRPS1c.790G>T (p.Ala264Ser)
c.272G>T
c.889G>T (p.Ala297Ser)
c.802-614G>T (n.802-614G>T)
c.*358G>T (n.*358G>T)
c.*582G>T (n.*582G>T)
c.25G>T (p.Ala9Ser)
c.481G>T
c.22-652G>T
c.*17G>T (n.*17G>T)
c.457G>T
c.589G>T (p.Ala197Ser)
c.277G>T (p.Ala93Ser)
Xg.107649965C>ACA413816078PRPS1c.791C>A (p.Ala264Glu)
c.273C>A
c.890C>A (p.Ala297Glu)
c.802-613C>A (n.802-613C>A)
c.*359C>A (n.*359C>A)
c.*583C>A (n.*583C>A)
c.26C>A (p.Ala9Glu)
c.482C>A
c.22-651C>A
c.*18C>A (n.*18C>A)
c.458C>A
c.590C>A (p.Ala197Glu)
c.278C>A (p.Ala93Glu)
Xg.107649965C>GCA413816061PRPS1c.791C>G (p.Ala264Gly)
c.273C>G
c.890C>G (p.Ala297Gly)
c.802-613C>G (n.802-613C>G)
c.*359C>G (n.*359C>G)
c.*583C>G (n.*583C>G)
c.26C>G (p.Ala9Gly)
c.482C>G
c.22-651C>G
c.*18C>G (n.*18C>G)
c.458C>G
c.590C>G (p.Ala197Gly)
c.278C>G (p.Ala93Gly)
Xg.107649965C>TCA413816071PRPS1c.791C>T (p.Ala264Val)
c.273C>T
c.890C>T (p.Ala297Val)
c.802-613C>T (n.802-613C>T)
c.*359C>T (n.*359C>T)
c.*583C>T (n.*583C>T)
c.26C>T (p.Ala9Val)
c.482C>T
c.22-651C>T
c.*18C>T (n.*18C>T)
c.458C>T
c.590C>T (p.Ala197Val)
c.278C>T (p.Ala93Val)
Xg.107649966A>CCA517921660PRPS1c.792A>C (p.Ala264=)
c.274A>C
c.891A>C (p.Ala297=)
c.802-612A>C (n.802-612A>C)
c.*360A>C (n.*360A>C)
c.*584A>C (n.*584A>C)
c.27A>C (p.Ala9=)
c.483A>C
c.22-650A>C
c.*19A>C (n.*19A>C)
c.459A>C
c.591A>C (p.Ala197=)
c.279A>C (p.Ala93=)
Xg.107649966A>GCA517921659PRPS1c.792A>G (p.Ala264=)
c.274A>G
c.891A>G (p.Ala297=)
c.802-612A>G (n.802-612A>G)
c.*360A>G (n.*360A>G)
c.*584A>G (n.*584A>G)
c.27A>G (p.Ala9=)
c.483A>G
c.22-650A>G
c.*19A>G (n.*19A>G)
c.459A>G
c.591A>G (p.Ala197=)
c.279A>G (p.Ala93=)
Xg.107649966A>TCA517921658PRPS1c.792A>T (p.Ala264=)
c.274A>T
c.891A>T (p.Ala297=)
c.802-612A>T (n.802-612A>T)
c.*360A>T (n.*360A>T)
c.*584A>T (n.*584A>T)
c.27A>T (p.Ala9=)
c.483A>T
c.22-650A>T
c.*19A>T (n.*19A>T)
c.459A>T
c.591A>T (p.Ala197=)
c.279A>T (p.Ala93=)
Xg.107649967G>ACA413816088PRPS1c.793G>A (p.Glu265Lys)
c.275G>A
c.892G>A (p.Glu298Lys)
c.802-611G>A (n.802-611G>A)
c.*361G>A (n.*361G>A)
c.*585G>A (n.*585G>A)
c.28G>A (p.Glu10Lys)
c.484G>A
c.22-649G>A
c.*20G>A (n.*20G>A)
c.460G>A
c.592G>A (p.Glu198Lys)
c.280G>A (p.Glu94Lys)
Xg.107649967G>CCA413816094PRPS1c.793G>C (p.Glu265Gln)
c.275G>C
c.892G>C (p.Glu298Gln)
c.802-611G>C (n.802-611G>C)
c.*361G>C (n.*361G>C)
c.*585G>C (n.*585G>C)
c.28G>C (p.Glu10Gln)
c.484G>C
c.22-649G>C
c.*20G>C (n.*20G>C)
c.460G>C
c.592G>C (p.Glu198Gln)
c.280G>C (p.Glu94Gln)
Xg.107649967G>TCA413816097PRPS1c.793G>T (p.Glu265Ter)
c.275G>T
c.892G>T (p.Glu298Ter)
c.802-611G>T (n.802-611G>T)
c.*361G>T (n.*361G>T)
c.*585G>T (n.*585G>T)
c.28G>T (p.Glu10Ter)
c.484G>T
c.22-649G>T
c.*20G>T (n.*20G>T)
c.460G>T
c.592G>T (p.Glu198Ter)
c.280G>T (p.Glu94Ter)
Xg.107649968A>CCA413816101PRPS1c.794A>C (p.Glu265Ala)
c.276A>C
c.893A>C (p.Glu298Ala)
c.802-610A>C (n.802-610A>C)
c.*362A>C (n.*362A>C)
c.*586A>C (n.*586A>C)
c.29A>C (p.Glu10Ala)
c.485A>C
c.22-648A>C
c.*21A>C (n.*21A>C)
c.461A>C
c.593A>C (p.Glu198Ala)
c.281A>C (p.Glu94Ala)
Xg.107649968A>GCA413816102PRPS1c.794A>G (p.Glu265Gly)
c.276A>G
c.893A>G (p.Glu298Gly)
c.802-610A>G (n.802-610A>G)
c.*362A>G (n.*362A>G)
c.*586A>G (n.*586A>G)
c.29A>G (p.Glu10Gly)
c.485A>G
c.22-648A>G
c.*21A>G (n.*21A>G)
c.461A>G
c.593A>G (p.Glu198Gly)
c.281A>G (p.Glu94Gly)
Xg.107649968A>TCA413816103PRPS1c.794A>T (p.Glu265Val)
c.276A>T
c.893A>T (p.Glu298Val)
c.802-610A>T (n.802-610A>T)
c.*362A>T (n.*362A>T)
c.*586A>T (n.*586A>T)
c.29A>T (p.Glu10Val)
c.485A>T
c.22-648A>T
c.*21A>T (n.*21A>T)
c.461A>T
c.593A>T (p.Glu198Val)
c.281A>T (p.Glu94Val)
Xg.107649969A>CCA413816106PRPS1c.795A>C (p.Glu265Asp)
c.277A>C
c.894A>C (p.Glu298Asp)
c.802-609A>C (n.802-609A>C)
c.*363A>C (n.*363A>C)
c.*587A>C (n.*587A>C)
c.30A>C (p.Glu10Asp)
c.486A>C
c.22-647A>C
c.*22A>C (n.*22A>C)
c.462A>C
c.594A>C (p.Glu198Asp)
c.282A>C (p.Glu94Asp)
Xg.107649969A>GCA517921661PRPS1c.795A>G (p.Glu265=)
c.277A>G
c.894A>G (p.Glu298=)
c.802-609A>G (n.802-609A>G)
c.*363A>G (n.*363A>G)
c.*587A>G (n.*587A>G)
c.30A>G (p.Glu10=)
c.486A>G
c.22-647A>G
c.*22A>G (n.*22A>G)
c.462A>G
c.594A>G (p.Glu198=)
c.282A>G (p.Glu94=)
Xg.107649969A>TCA413816110PRPS1c.795A>T (p.Glu265Asp)
c.277A>T
c.894A>T (p.Glu298Asp)
c.802-609A>T (n.802-609A>T)
c.*363A>T (n.*363A>T)
c.*587A>T (n.*587A>T)
c.30A>T (p.Glu10Asp)
c.486A>T
c.22-647A>T
c.*22A>T (n.*22A>T)
c.462A>T
c.594A>T (p.Glu198Asp)
c.282A>T (p.Glu94Asp)
Xg.107649970G>ACA413816111PRPS1c.796G>A (p.Ala266Thr)
c.278G>A
c.895G>A (p.Ala299Thr)
c.802-608G>A (n.802-608G>A)
c.*364G>A (n.*364G>A)
c.*588G>A (n.*588G>A)
c.31G>A (p.Ala11Thr)
c.487G>A
c.22-646G>A
c.*23G>A (n.*23G>A)
c.463G>A
c.595G>A (p.Ala199Thr)
c.283G>A (p.Ala95Thr)
Xg.107649970G>CCA413816115PRPS1c.796G>C (p.Ala266Pro)
c.278G>C
c.895G>C (p.Ala299Pro)
c.802-608G>C (n.802-608G>C)
c.*364G>C (n.*364G>C)
c.*588G>C (n.*588G>C)
c.31G>C (p.Ala11Pro)
c.487G>C
c.22-646G>C
c.*23G>C (n.*23G>C)
c.463G>C
c.595G>C (p.Ala199Pro)
c.283G>C (p.Ala95Pro)
Xg.107649970G>TCA413816124PRPS1c.796G>T (p.Ala266Ser)
c.278G>T
c.895G>T (p.Ala299Ser)
c.802-608G>T (n.802-608G>T)
c.*364G>T (n.*364G>T)
c.*588G>T (n.*588G>T)
c.31G>T (p.Ala11Ser)
c.487G>T
c.22-646G>T
c.*23G>T (n.*23G>T)
c.463G>T
c.595G>T (p.Ala199Ser)
c.283G>T (p.Ala95Ser)
Xg.107649971C>ACA413816144PRPS1c.797C>A (p.Ala266Asp)
c.279C>A
c.896C>A (p.Ala299Asp)
c.802-607C>A (n.802-607C>A)
c.*365C>A (n.*365C>A)
c.*589C>A (n.*589C>A)
c.32C>A (p.Ala11Asp)
c.488C>A
c.22-645C>A
c.*24C>A (n.*24C>A)
c.464C>A
c.596C>A (p.Ala199Asp)
c.284C>A (p.Ala95Asp)
Xg.107649971C>GCA413816131PRPS1c.797C>G (p.Ala266Gly)
c.279C>G
c.896C>G (p.Ala299Gly)
c.802-607C>G (n.802-607C>G)
c.*365C>G (n.*365C>G)
c.*589C>G (n.*589C>G)
c.32C>G (p.Ala11Gly)
c.488C>G
c.22-645C>G
c.*24C>G (n.*24C>G)
c.464C>G
c.596C>G (p.Ala199Gly)
c.284C>G (p.Ala95Gly)
Xg.107649971C>TCA413816139PRPS1c.797C>T (p.Ala266Val)
c.279C>T
c.896C>T (p.Ala299Val)
c.802-607C>T (n.802-607C>T)
c.*365C>T (n.*365C>T)
c.*589C>T (n.*589C>T)
c.32C>T (p.Ala11Val)
c.488C>T
c.22-645C>T
c.*24C>T (n.*24C>T)
c.464C>T
c.596C>T (p.Ala199Val)
c.284C>T (p.Ala95Val)
Xg.107649972C>ACA517921663PRPS1c.798C>A (p.Ala266=)
c.280C>A
c.897C>A (p.Ala299=)
c.802-606C>A (n.802-606C>A)
c.*366C>A (n.*366C>A)
c.*590C>A (n.*590C>A)
c.33C>A (p.Ala11=)
c.489C>A
c.22-644C>A
c.*25C>A (n.*25C>A)
c.465C>A
c.597C>A (p.Ala199=)
c.285C>A (p.Ala95=)
 gnomAD v4
Xg.107649972C>GCA517921664PRPS1c.798C>G (p.Ala266=)
c.280C>G
c.897C>G (p.Ala299=)
c.802-606C>G (n.802-606C>G)
c.*366C>G (n.*366C>G)
c.*590C>G (n.*590C>G)
c.33C>G (p.Ala11=)
c.489C>G
c.22-644C>G
c.*25C>G (n.*25C>G)
c.465C>G
c.597C>G (p.Ala199=)
c.285C>G (p.Ala95=)
Xg.107649972C>TCA517921665PRPS1c.798C>T (p.Ala266=)
c.280C>T
c.897C>T (p.Ala299=)
c.802-606C>T (n.802-606C>T)
c.*366C>T (n.*366C>T)
c.*590C>T (n.*590C>T)
c.33C>T (p.Ala11=)
c.489C>T
c.22-644C>T
c.*25C>T (n.*25C>T)
c.465C>T
c.597C>T (p.Ala199=)
c.285C>T (p.Ala95=)
Xg.107649973A>CCA413816150PRPS1c.799A>C (p.Ile267Leu)
c.281A>C
c.898A>C (p.Ile300Leu)
c.802-605A>C (n.802-605A>C)
c.*367A>C (n.*367A>C)
c.*591A>C (n.*591A>C)
c.34A>C (p.Ile12Leu)
c.490A>C
c.22-643A>C
c.*26A>C (n.*26A>C)
c.466A>C
c.598A>C (p.Ile200Leu)
c.286A>C (p.Ile96Leu)
Xg.107649973A>GCA413816151PRPS1c.799A>G (p.Ile267Val)
c.281A>G
c.898A>G (p.Ile300Val)
c.802-605A>G (n.802-605A>G)
c.*367A>G (n.*367A>G)
c.*591A>G (n.*591A>G)
c.34A>G (p.Ile12Val)
c.490A>G
c.22-643A>G
c.*26A>G (n.*26A>G)
c.466A>G
c.598A>G (p.Ile200Val)
c.286A>G (p.Ile96Val)
Xg.107649973A>TCA413816153PRPS1c.799A>T (p.Ile267Phe)
c.281A>T
c.898A>T (p.Ile300Phe)
c.802-605A>T (n.802-605A>T)
c.*367A>T (n.*367A>T)
c.*591A>T (n.*591A>T)
c.34A>T (p.Ile12Phe)
c.490A>T
c.22-643A>T
c.*26A>T (n.*26A>T)
c.466A>T
c.598A>T (p.Ile200Phe)
c.286A>T (p.Ile96Phe)
Xg.107649974T>ACA413816160PRPS1c.800T>A (p.Ile267Asn)
c.282T>A
c.899T>A (p.Ile300Asn)
c.802-604T>A (n.802-604T>A)
c.*368T>A (n.*368T>A)
c.*592T>A (n.*592T>A)
c.35T>A (p.Ile12Asn)
c.491T>A
c.22-642T>A
c.*27T>A (n.*27T>A)
c.467T>A
c.599T>A (p.Ile200Asn)
c.287T>A (p.Ile96Asn)
Xg.107649974T>CCA10485696PRPS1c.800T>C (p.Ile267Thr)
c.282T>C
c.899T>C (p.Ile300Thr)
c.802-604T>C (n.802-604T>C)
c.*368T>C (n.*368T>C)
c.*592T>C (n.*592T>C)
c.35T>C (p.Ile12Thr)
c.491T>C
c.22-642T>C
c.*27T>C (n.*27T>C)
c.467T>C
c.599T>C (p.Ile200Thr)
c.287T>C (p.Ile96Thr)
 dbSNP ExAC
Xg.107649974T>GCA413816178PRPS1c.800T>G (p.Ile267Ser)
c.282T>G
c.899T>G (p.Ile300Ser)
c.802-604T>G (n.802-604T>G)
c.*368T>G (n.*368T>G)
c.*592T>G (n.*592T>G)
c.35T>G (p.Ile12Ser)
c.491T>G
c.22-642T>G
c.*27T>G (n.*27T>G)
c.467T>G
c.599T>G (p.Ile200Ser)
c.287T>G (p.Ile96Ser)
Xg.107649974T=CA2450376210PRPS1c.800T= (p.Ile267=)
c.282T=
c.899T= (p.Ile300=)
c.802-604T= (n.802-604T=)
c.*368T= (n.*368T=)
c.*592T= (n.*592T=)
c.35T= (p.Ile12=)
c.491T=
c.22-642T=
c.*27T= (n.*27T=)
c.467T=
c.599T= (p.Ile200=)
c.287T= (p.Ile96=)
Xg.107649975C>ACA517921666PRPS1c.801C>A (p.Ile267=)
c.283C>A
c.900C>A (p.Ile300=)
c.802-603C>A (n.802-603C>A)
c.*369C>A (n.*369C>A)
c.*593C>A (n.*593C>A)
c.36C>A (p.Ile12=)
c.492C>A
c.22-641C>A
c.*28C>A (n.*28C>A)
c.468C>A
c.600C>A (p.Ile200=)
c.288C>A (p.Ile96=)
Xg.107649975C=CA2450376211PRPS1c.801C= (p.Ile267=)
c.283C=
c.900C= (p.Ile300=)
c.802-603C= (n.802-603C=)
c.*369C= (n.*369C=)
c.*593C= (n.*593C=)
c.36C= (p.Ile12=)
c.492C=
c.22-641C=
c.*28C= (n.*28C=)
c.468C=
c.600C= (p.Ile200=)
c.288C= (p.Ile96=)
Xg.107649975C>GCA413816186PRPS1c.801C>G (p.Ile267Met)
c.283C>G
c.900C>G (p.Ile300Met)
c.802-603C>G (n.802-603C>G)
c.*369C>G (n.*369C>G)
c.*593C>G (n.*593C>G)
c.36C>G (p.Ile12Met)
c.492C>G
c.22-641C>G
c.*28C>G (n.*28C>G)
c.468C>G
c.600C>G (p.Ile200Met)
c.288C>G (p.Ile96Met)
Xg.107649975C>TCA517921667PRPS1c.801C>T (p.Ile267=)
c.283C>T
c.900C>T (p.Ile300=)
c.802-603C>T (n.802-603C>T)
c.*369C>T (n.*369C>T)
c.*593C>T (n.*593C>T)
c.36C>T (p.Ile12=)
c.492C>T
c.22-641C>T
c.*28C>T (n.*28C>T)
c.468C>T
c.600C>T (p.Ile200=)
c.288C>T (p.Ile96=)
 ClinVar dbSNP
Xg.107649976A>CCA517921668PRPS1c.802A>C (p.Arg268=)
c.284A>C
c.901A>C (p.Arg301=)
c.802-602A>C (n.802-602A>C)
c.*370A>C (n.*370A>C)
c.*594A>C (n.*594A>C)
c.37A>C (p.Arg13=)
c.493A>C
c.22-640A>C
c.*29A>C (n.*29A>C)
c.469A>C
c.601A>C (p.Arg201=)
c.289A>C (p.Arg97=)
Xg.107649976A>GCA413816196PRPS1c.802A>G (p.Arg268Gly)
c.284A>G
c.901A>G (p.Arg301Gly)
c.802-602A>G (n.802-602A>G)
c.*370A>G (n.*370A>G)
c.*594A>G (n.*594A>G)
c.37A>G (p.Arg13Gly)
c.493A>G
c.22-640A>G
c.*29A>G (n.*29A>G)
c.469A>G
c.601A>G (p.Arg201Gly)
c.289A>G (p.Arg97Gly)
Xg.107649976A>TCA413816209PRPS1c.802A>T (p.Arg268Trp)
c.284A>T
c.901A>T (p.Arg301Trp)
c.802-602A>T (n.802-602A>T)
c.*370A>T (n.*370A>T)
c.*594A>T (n.*594A>T)
c.37A>T (p.Arg13Trp)
c.493A>T
c.22-640A>T
c.*29A>T (n.*29A>T)
c.469A>T
c.601A>T (p.Arg201Trp)
c.289A>T (p.Arg97Trp)
Xg.107649977G>ACA413816210PRPS1c.803G>A (p.Arg268Lys)
c.285G>A
c.902G>A (p.Arg301Lys)
c.802-601G>A (n.802-601G>A)
c.*371G>A (n.*371G>A)
c.*595G>A (n.*595G>A)
c.38G>A (p.Arg13Lys)
c.494G>A
c.22-639G>A
c.*30G>A (n.*30G>A)
c.470G>A
c.602G>A (p.Arg201Lys)
c.290G>A (p.Arg97Lys)
Xg.107649977G>CCA413816211PRPS1c.803G>C (p.Arg268Thr)
c.285G>C
c.902G>C (p.Arg301Thr)
c.802-601G>C (n.802-601G>C)
c.*371G>C (n.*371G>C)
c.*595G>C (n.*595G>C)
c.38G>C (p.Arg13Thr)
c.494G>C
c.22-639G>C
c.*30G>C (n.*30G>C)
c.470G>C
c.602G>C (p.Arg201Thr)
c.290G>C (p.Arg97Thr)
Xg.107649977G>TCA413816223PRPS1c.803G>T (p.Arg268Met)
c.285G>T
c.902G>T (p.Arg301Met)
c.802-601G>T (n.802-601G>T)
c.*371G>T (n.*371G>T)
c.*595G>T (n.*595G>T)
c.38G>T (p.Arg13Met)
c.494G>T
c.22-639G>T
c.*30G>T (n.*30G>T)
c.470G>T
c.602G>T (p.Arg201Met)
c.290G>T (p.Arg97Met)
Xg.107649978G>ACA517921669PRPS1c.804G>A (p.Arg268=)
c.286G>A
c.903G>A (p.Arg301=)
c.802-600G>A (n.802-600G>A)
c.*372G>A (n.*372G>A)
c.*596G>A (n.*596G>A)
c.39G>A (p.Arg13=)
c.495G>A
c.22-638G>A
c.*31G>A (n.*31G>A)
c.471G>A
c.603G>A (p.Arg201=)
c.291G>A (p.Arg97=)
Xg.107649978G>CCA413816234PRPS1c.804G>C (p.Arg268Ser)
c.286G>C
c.903G>C (p.Arg301Ser)
c.802-600G>C (n.802-600G>C)
c.*372G>C (n.*372G>C)
c.*596G>C (n.*596G>C)
c.39G>C (p.Arg13Ser)
c.495G>C
c.22-638G>C
c.*31G>C (n.*31G>C)
c.471G>C
c.603G>C (p.Arg201Ser)
c.291G>C (p.Arg97Ser)
Xg.107649978G>TCA413816241PRPS1c.804G>T (p.Arg268Ser)
c.286G>T
c.903G>T (p.Arg301Ser)
c.802-600G>T (n.802-600G>T)
c.*372G>T (n.*372G>T)
c.*596G>T (n.*596G>T)
c.39G>T (p.Arg13Ser)
c.495G>T
c.22-638G>T
c.*31G>T (n.*31G>T)
c.471G>T
c.603G>T (p.Arg201Ser)
c.291G>T (p.Arg97Ser)
Xg.107649979A>CCA517921670PRPS1c.805A>C (p.Arg269=)
c.287A>C
c.904A>C (p.Arg302=)
c.802-599A>C (n.802-599A>C)
c.*373A>C (n.*373A>C)
c.*597A>C (n.*597A>C)
c.40A>C (p.Arg14=)
c.496A>C
c.22-637A>C
c.*32A>C (n.*32A>C)
c.472A>C
c.604A>C (p.Arg202=)
c.292A>C (p.Arg98=)
Xg.107649979A>GCA413816254PRPS1c.805A>G (p.Arg269Gly)
c.287A>G
c.904A>G (p.Arg302Gly)
c.802-599A>G (n.802-599A>G)
c.*373A>G (n.*373A>G)
c.*597A>G (n.*597A>G)
c.40A>G (p.Arg14Gly)
c.496A>G
c.22-637A>G
c.*32A>G (n.*32A>G)
c.472A>G
c.604A>G (p.Arg202Gly)
c.292A>G (p.Arg98Gly)
Xg.107649979A>TCA413816264PRPS1c.805A>T (p.Arg269Ter)
c.287A>T
c.904A>T (p.Arg302Ter)
c.802-599A>T (n.802-599A>T)
c.*373A>T (n.*373A>T)
c.*597A>T (n.*597A>T)
c.40A>T (p.Arg14Ter)
c.496A>T
c.22-637A>T
c.*32A>T (n.*32A>T)
c.472A>T
c.604A>T (p.Arg202Ter)
c.292A>T (p.Arg98Ter)
Xg.107649980G>ACA413816267PRPS1c.806G>A (p.Arg269Lys)
c.288G>A
c.905G>A (p.Arg302Lys)
c.802-598G>A (n.802-598G>A)
c.*374G>A (n.*374G>A)
c.*598G>A (n.*598G>A)
c.41G>A (p.Arg14Lys)
c.497G>A
c.22-636G>A
c.*33G>A (n.*33G>A)
c.473G>A
c.605G>A (p.Arg202Lys)
c.293G>A (p.Arg98Lys)
Xg.107649980G>CCA413816269PRPS1c.806G>C (p.Arg269Thr)
c.288G>C
c.905G>C (p.Arg302Thr)
c.802-598G>C (n.802-598G>C)
c.*374G>C (n.*374G>C)
c.*598G>C (n.*598G>C)
c.41G>C (p.Arg14Thr)
c.497G>C
c.22-636G>C
c.*33G>C (n.*33G>C)
c.473G>C
c.605G>C (p.Arg202Thr)
c.293G>C (p.Arg98Thr)
Xg.107649980G>TCA413816285PRPS1c.806G>T (p.Arg269Ile)
c.288G>T
c.905G>T (p.Arg302Ile)
c.802-598G>T (n.802-598G>T)
c.*374G>T (n.*374G>T)
c.*598G>T (n.*598G>T)
c.41G>T (p.Arg14Ile)
c.497G>T
c.22-636G>T
c.*33G>T (n.*33G>T)
c.473G>T
c.605G>T (p.Arg202Ile)
c.293G>T (p.Arg98Ile)
Xg.107649981A>CCA413816287PRPS1c.807A>C (p.Arg269Ser)
c.289A>C
c.906A>C (p.Arg302Ser)
c.802-597A>C (n.802-597A>C)
c.*375A>C (n.*375A>C)
c.*599A>C (n.*599A>C)
c.42A>C (p.Arg14Ser)
c.498A>C
c.22-635A>C
c.*34A>C (n.*34A>C)
c.474A>C
c.606A>C (p.Arg202Ser)
c.294A>C (p.Arg98Ser)
Xg.107649981A>GCA517921671PRPS1c.807A>G (p.Arg269=)
c.289A>G
c.906A>G (p.Arg302=)
c.802-597A>G (n.802-597A>G)
c.*375A>G (n.*375A>G)
c.*599A>G (n.*599A>G)
c.42A>G (p.Arg14=)
c.498A>G
c.22-635A>G
c.*34A>G (n.*34A>G)
c.474A>G
c.606A>G (p.Arg202=)
c.294A>G (p.Arg98=)
Xg.107649981A>TCA413816292PRPS1c.807A>T (p.Arg269Ser)
c.289A>T
c.906A>T (p.Arg302Ser)
c.802-597A>T (n.802-597A>T)
c.*375A>T (n.*375A>T)
c.*599A>T (n.*599A>T)
c.42A>T (p.Arg14Ser)
c.498A>T
c.22-635A>T
c.*34A>T (n.*34A>T)
c.474A>T
c.606A>T (p.Arg202Ser)
c.294A>T (p.Arg98Ser)
Xg.107649982A>CCA413816295PRPS1c.808A>C (p.Thr270Pro)
c.290A>C
c.907A>C (p.Thr303Pro)
c.802-596A>C (n.802-596A>C)
c.*376A>C (n.*376A>C)
c.*600A>C (n.*600A>C)
c.43A>C (p.Thr15Pro)
c.499A>C
c.22-634A>C
c.*35A>C (n.*35A>C)
c.475A>C
c.607A>C (p.Thr203Pro)
c.295A>C (p.Thr99Pro)
Xg.107649982A>GCA413816296PRPS1c.808A>G (p.Thr270Ala)
c.290A>G
c.907A>G (p.Thr303Ala)
c.802-596A>G (n.802-596A>G)
c.*376A>G (n.*376A>G)
c.*600A>G (n.*600A>G)
c.43A>G (p.Thr15Ala)
c.499A>G
c.22-634A>G
c.*35A>G (n.*35A>G)
c.475A>G
c.607A>G (p.Thr203Ala)
c.295A>G (p.Thr99Ala)
Xg.107649982A>TCA413816298PRPS1c.808A>T (p.Thr270Ser)
c.290A>T
c.907A>T (p.Thr303Ser)
c.802-596A>T (n.802-596A>T)
c.*376A>T (n.*376A>T)
c.*600A>T (n.*600A>T)
c.43A>T (p.Thr15Ser)
c.499A>T
c.22-634A>T
c.*35A>T (n.*35A>T)
c.475A>T
c.607A>T (p.Thr203Ser)
c.295A>T (p.Thr99Ser)
Xg.107649983C>ACA413816303PRPS1c.809C>A (p.Thr270Asn)
c.291C>A
c.908C>A (p.Thr303Asn)
c.802-595C>A (n.802-595C>A)
c.*377C>A (n.*377C>A)
c.*601C>A (n.*601C>A)
c.44C>A (p.Thr15Asn)
c.500C>A
c.22-633C>A
c.*36C>A (n.*36C>A)
c.476C>A
c.608C>A (p.Thr203Asn)
c.296C>A (p.Thr99Asn)
Xg.107649983C>GCA413816304PRPS1c.809C>G (p.Thr270Ser)
c.291C>G
c.908C>G (p.Thr303Ser)
c.802-595C>G (n.802-595C>G)
c.*377C>G (n.*377C>G)
c.*601C>G (n.*601C>G)
c.44C>G (p.Thr15Ser)
c.500C>G
c.22-633C>G
c.*36C>G (n.*36C>G)
c.476C>G
c.608C>G (p.Thr203Ser)
c.296C>G (p.Thr99Ser)
Xg.107649983C>TCA413816305PRPS1c.809C>T (p.Thr270Ile)
c.291C>T
c.908C>T (p.Thr303Ile)
c.802-595C>T (n.802-595C>T)
c.*377C>T (n.*377C>T)
c.*601C>T (n.*601C>T)
c.44C>T (p.Thr15Ile)
c.500C>T
c.22-633C>T
c.*36C>T (n.*36C>T)
c.476C>T
c.608C>T (p.Thr203Ile)
c.296C>T (p.Thr99Ile)
 ClinVar
Xg.107649984T>ACA517921672PRPS1c.810T>A (p.Thr270=)
c.292T>A
c.909T>A (p.Thr303=)
c.802-594T>A (n.802-594T>A)
c.*378T>A (n.*378T>A)
c.*602T>A (n.*602T>A)
c.45T>A (p.Thr15=)
c.501T>A
c.22-632T>A
c.*37T>A (n.*37T>A)
c.477T>A
c.609T>A (p.Thr203=)
c.297T>A (p.Thr99=)
Xg.107649984T>CCA517921673PRPS1c.810T>C (p.Thr270=)
c.292T>C
c.909T>C (p.Thr303=)
c.802-594T>C (n.802-594T>C)
c.*378T>C (n.*378T>C)
c.*602T>C (n.*602T>C)
c.45T>C (p.Thr15=)
c.501T>C
c.22-632T>C
c.*37T>C (n.*37T>C)
c.477T>C
c.609T>C (p.Thr203=)
c.297T>C (p.Thr99=)
Xg.107649984T>GCA517921674PRPS1c.810T>G (p.Thr270=)
c.292T>G
c.909T>G (p.Thr303=)
c.802-594T>G (n.802-594T>G)
c.*378T>G (n.*378T>G)
c.*602T>G (n.*602T>G)
c.45T>G (p.Thr15=)
c.501T>G
c.22-632T>G
c.*37T>G (n.*37T>G)
c.477T>G
c.609T>G (p.Thr203=)
c.297T>G (p.Thr99=)
 gnomAD v4
Xg.107649985C>ACA413816315PRPS1c.811C>A (p.His271Asn)
c.293C>A
c.910C>A (p.His304Asn)
c.802-593C>A (n.802-593C>A)
c.*379C>A (n.*379C>A)
c.*603C>A (n.*603C>A)
c.46C>A (p.His16Asn)
c.502C>A
c.22-631C>A
c.*38C>A (n.*38C>A)
c.478C>A
c.610C>A (p.His204Asn)
c.298C>A (p.His100Asn)
Xg.107649985C>GCA413816306PRPS1c.811C>G (p.His271Asp)
c.293C>G
c.910C>G (p.His304Asp)
c.802-593C>G (n.802-593C>G)
c.*379C>G (n.*379C>G)
c.*603C>G (n.*603C>G)
c.46C>G (p.His16Asp)
c.502C>G
c.22-631C>G
c.*38C>G (n.*38C>G)
c.478C>G
c.610C>G (p.His204Asp)
c.298C>G (p.His100Asp)
Xg.107649985C>TCA413816308PRPS1c.811C>T (p.His271Tyr)
c.293C>T
c.910C>T (p.His304Tyr)
c.802-593C>T (n.802-593C>T)
c.*379C>T (n.*379C>T)
c.*603C>T (n.*603C>T)
c.46C>T (p.His16Tyr)
c.502C>T
c.22-631C>T
c.*38C>T (n.*38C>T)
c.478C>T
c.610C>T (p.His204Tyr)
c.298C>T (p.His100Tyr)
Xg.107649986A>CCA413816321PRPS1c.812A>C (p.His271Pro)
c.294A>C
c.911A>C (p.His304Pro)
c.802-592A>C (n.802-592A>C)
c.*380A>C (n.*380A>C)
c.*604A>C (n.*604A>C)
c.47A>C (p.His16Pro)
c.503A>C
c.22-630A>C
c.*39A>C (n.*39A>C)
c.479A>C
c.611A>C (p.His204Pro)
c.299A>C (p.His100Pro)
Xg.107649986A>GCA413816323PRPS1c.812A>G (p.His271Arg)
c.294A>G
c.911A>G (p.His304Arg)
c.802-592A>G (n.802-592A>G)
c.*380A>G (n.*380A>G)
c.*604A>G (n.*604A>G)
c.47A>G (p.His16Arg)
c.503A>G
c.22-630A>G
c.*39A>G (n.*39A>G)
c.479A>G
c.611A>G (p.His204Arg)
c.299A>G (p.His100Arg)
Xg.107649986A>TCA413816326PRPS1c.812A>T (p.His271Leu)
c.294A>T
c.911A>T (p.His304Leu)
c.802-592A>T (n.802-592A>T)
c.*380A>T (n.*380A>T)
c.*604A>T (n.*604A>T)
c.47A>T (p.His16Leu)
c.503A>T
c.22-630A>T
c.*39A>T (n.*39A>T)
c.479A>T
c.611A>T (p.His204Leu)
c.299A>T (p.His100Leu)
Xg.107649987C>ACA413816341PRPS1c.813C>A (p.His271Gln)
c.295C>A
c.912C>A (p.His304Gln)
c.802-591C>A (n.802-591C>A)
c.*381C>A (n.*381C>A)
c.*605C>A (n.*605C>A)
c.48C>A (p.His16Gln)
c.504C>A
c.22-629C>A
c.*40C>A (n.*40C>A)
c.480C>A
c.612C>A (p.His204Gln)
c.300C>A (p.His100Gln)
Xg.107649987C>GCA413816363PRPS1c.813C>G (p.His271Gln)
c.295C>G
c.912C>G (p.His304Gln)
c.802-591C>G (n.802-591C>G)
c.*381C>G (n.*381C>G)
c.*605C>G (n.*605C>G)
c.48C>G (p.His16Gln)
c.504C>G
c.22-629C>G
c.*40C>G (n.*40C>G)
c.480C>G
c.612C>G (p.His204Gln)
c.300C>G (p.His100Gln)
Xg.107649987C>TCA517921675PRPS1c.813C>T (p.His271=)
c.295C>T
c.912C>T (p.His304=)
c.802-591C>T (n.802-591C>T)
c.*381C>T (n.*381C>T)
c.*605C>T (n.*605C>T)
c.48C>T (p.His16=)
c.504C>T
c.22-629C>T
c.*40C>T (n.*40C>T)
c.480C>T
c.612C>T (p.His204=)
c.300C>T (p.His100=)
Xg.107649988A>CCA413816381PRPS1c.814A>C (p.Asn272His)
c.296A>C
c.913A>C (p.Asn305His)
c.802-590A>C (n.802-590A>C)
c.*382A>C (n.*382A>C)
c.*606A>C (n.*606A>C)
c.49A>C (p.Asn17His)
c.505A>C
c.22-628A>C
c.*41A>C (n.*41A>C)
c.481A>C
c.613A>C (p.Asn205His)
c.301A>C (p.Asn101His)
Xg.107649988A>GCA413816382PRPS1c.814A>G (p.Asn272Asp)
c.296A>G
c.913A>G (p.Asn305Asp)
c.802-590A>G (n.802-590A>G)
c.*382A>G (n.*382A>G)
c.*606A>G (n.*606A>G)
c.49A>G (p.Asn17Asp)
c.505A>G
c.22-628A>G
c.*41A>G (n.*41A>G)
c.481A>G
c.613A>G (p.Asn205Asp)
c.301A>G (p.Asn101Asp)
Xg.107649988A>TCA413816387PRPS1c.814A>T (p.Asn272Tyr)
c.296A>T
c.913A>T (p.Asn305Tyr)
c.802-590A>T (n.802-590A>T)
c.*382A>T (n.*382A>T)
c.*606A>T (n.*606A>T)
c.49A>T (p.Asn17Tyr)
c.505A>T
c.22-628A>T
c.*41A>T (n.*41A>T)
c.481A>T
c.613A>T (p.Asn205Tyr)
c.301A>T (p.Asn101Tyr)
Xg.107649989A>CCA413816392PRPS1c.815A>C (p.Asn272Thr)
c.297A>C
c.914A>C (p.Asn305Thr)
c.802-589A>C (n.802-589A>C)
c.*383A>C (n.*383A>C)
c.*607A>C (n.*607A>C)
c.50A>C (p.Asn17Thr)
c.506A>C
c.22-627A>C
c.*42A>C (n.*42A>C)
c.482A>C
c.614A>C (p.Asn205Thr)
c.302A>C (p.Asn101Thr)
Xg.107649989A>GCA413816397PRPS1c.815A>G (p.Asn272Ser)
c.297A>G
c.914A>G (p.Asn305Ser)
c.802-589A>G (n.802-589A>G)
c.*383A>G (n.*383A>G)
c.*607A>G (n.*607A>G)
c.50A>G (p.Asn17Ser)
c.506A>G
c.22-627A>G
c.*42A>G (n.*42A>G)
c.482A>G
c.614A>G (p.Asn205Ser)
c.302A>G (p.Asn101Ser)
Xg.107649989A>TCA413816410PRPS1c.815A>T (p.Asn272Ile)
c.297A>T
c.914A>T (p.Asn305Ile)
c.802-589A>T (n.802-589A>T)
c.*383A>T (n.*383A>T)
c.*607A>T (n.*607A>T)
c.50A>T (p.Asn17Ile)
c.506A>T
c.22-627A>T
c.*42A>T (n.*42A>T)
c.482A>T
c.614A>T (p.Asn205Ile)
c.302A>T (p.Asn101Ile)
Xg.107649990T>ACA10485697PRPS1c.816T>A (p.Asn272Lys)
c.298T>A
c.915T>A (p.Asn305Lys)
c.802-588T>A (n.802-588T>A)
c.*384T>A (n.*384T>A)
c.*608T>A (n.*608T>A)
c.51T>A (p.Asn17Lys)
c.507T>A
c.22-626T>A
c.*43T>A (n.*43T>A)
c.483T>A
c.615T>A (p.Asn205Lys)
c.303T>A (p.Asn101Lys)
 dbSNP ExAC gnomAD v2
Xg.107649990T>CCA517921676PRPS1c.816T>C (p.Asn272=)
c.298T>C
c.915T>C (p.Asn305=)
c.802-588T>C (n.802-588T>C)
c.*384T>C (n.*384T>C)
c.*608T>C (n.*608T>C)
c.51T>C (p.Asn17=)
c.507T>C
c.22-626T>C
c.*43T>C (n.*43T>C)
c.483T>C
c.615T>C (p.Asn205=)
c.303T>C (p.Asn101=)
Xg.107649990T>GCA413816425PRPS1c.816T>G (p.Asn272Lys)
c.298T>G
c.915T>G (p.Asn305Lys)
c.802-588T>G (n.802-588T>G)
c.*384T>G (n.*384T>G)
c.*608T>G (n.*608T>G)
c.51T>G (p.Asn17Lys)
c.507T>G
c.22-626T>G
c.*43T>G (n.*43T>G)
c.483T>G
c.615T>G (p.Asn205Lys)
c.303T>G (p.Asn101Lys)
Xg.107649990T=CA2450376212PRPS1c.816T= (p.Asn272=)
c.298T=
c.915T= (p.Asn305=)
c.802-588T= (n.802-588T=)
c.*384T= (n.*384T=)
c.*608T= (n.*608T=)
c.51T= (p.Asn17=)
c.507T=
c.22-626T=
c.*43T= (n.*43T=)
c.483T=
c.615T= (p.Asn205=)
c.303T= (p.Asn101=)
Xg.107649991G>ACA254949PRPS1c.817G>A (p.Gly273Arg)
c.299G>A
c.916G>A (p.Gly306Arg)
c.802-587G>A (n.802-587G>A)
c.*385G>A (n.*385G>A)
c.*609G>A (n.*609G>A)
c.52G>A (p.Gly18Arg)
c.508G>A
c.22-625G>A
c.*44G>A (n.*44G>A)
c.484G>A
c.616G>A (p.Gly206Arg)
c.304G>A (p.Gly102Arg)
 ClinVar dbSNP
Xg.107649991G>CCA413816444PRPS1c.817G>C (p.Gly273Arg)
c.299G>C
c.916G>C (p.Gly306Arg)
c.802-587G>C (n.802-587G>C)
c.*385G>C (n.*385G>C)
c.*609G>C (n.*609G>C)
c.52G>C (p.Gly18Arg)
c.508G>C
c.22-625G>C
c.*44G>C (n.*44G>C)
c.484G>C
c.616G>C (p.Gly206Arg)
c.304G>C (p.Gly102Arg)
Xg.107649991G=CA2450376213PRPS1c.817G= (p.Gly273=)
c.299G=
c.916G= (p.Gly306=)
c.802-587G= (n.802-587G=)
c.*385G= (n.*385G=)
c.*609G= (n.*609G=)
c.52G= (p.Gly18=)
c.508G=
c.22-625G=
c.*44G= (n.*44G=)
c.484G=
c.616G= (p.Gly206=)
c.304G= (p.Gly102=)
Xg.107649991G>TCA413816437PRPS1c.817G>T (p.Gly273Ter)
c.299G>T
c.916G>T (p.Gly306Ter)
c.802-587G>T (n.802-587G>T)
c.*385G>T (n.*385G>T)
c.*609G>T (n.*609G>T)
c.52G>T (p.Gly18Ter)
c.508G>T
c.22-625G>T
c.*44G>T (n.*44G>T)
c.484G>T
c.616G>T (p.Gly206Ter)
c.304G>T (p.Gly102Ter)
Xg.107649992G>ACA413816482PRPS1c.818G>A (p.Gly273Glu)
c.300G>A
c.917G>A (p.Gly306Glu)
c.802-586G>A (n.802-586G>A)
c.*386G>A (n.*386G>A)
c.*610G>A (n.*610G>A)
c.53G>A (p.Gly18Glu)
c.509G>A
c.22-624G>A
c.*45G>A (n.*45G>A)
c.485G>A
c.617G>A (p.Gly206Glu)
c.305G>A (p.Gly102Glu)
Xg.107649992G>CCA413816455PRPS1c.818G>C (p.Gly273Ala)
c.300G>C
c.917G>C (p.Gly306Ala)
c.802-586G>C (n.802-586G>C)
c.*386G>C (n.*386G>C)
c.*610G>C (n.*610G>C)
c.53G>C (p.Gly18Ala)
c.509G>C
c.22-624G>C
c.*45G>C (n.*45G>C)
c.485G>C
c.617G>C (p.Gly206Ala)
c.305G>C (p.Gly102Ala)
Xg.107649992G>TCA413816463PRPS1c.818G>T (p.Gly273Val)
c.300G>T
c.917G>T (p.Gly306Val)
c.802-586G>T (n.802-586G>T)
c.*386G>T (n.*386G>T)
c.*610G>T (n.*610G>T)
c.53G>T (p.Gly18Val)
c.509G>T
c.22-624G>T
c.*45G>T (n.*45G>T)
c.485G>T
c.617G>T (p.Gly206Val)
c.305G>T (p.Gly102Val)
 COSMIC
Xg.107649993A>CCA517921677PRPS1c.819A>C (p.Gly273=)
c.301A>C
c.918A>C (p.Gly306=)
c.802-585A>C (n.802-585A>C)
c.*387A>C (n.*387A>C)
c.*611A>C (n.*611A>C)
c.54A>C (p.Gly18=)
c.510A>C
c.22-623A>C
c.*46A>C (n.*46A>C)
c.486A>C
c.618A>C (p.Gly206=)
c.306A>C (p.Gly102=)
Xg.107649993A>GCA517921679PRPS1c.819A>G (p.Gly273=)
c.301A>G
c.918A>G (p.Gly306=)
c.802-585A>G (n.802-585A>G)
c.*387A>G (n.*387A>G)
c.*611A>G (n.*611A>G)
c.54A>G (p.Gly18=)
c.510A>G
c.22-623A>G
c.*46A>G (n.*46A>G)
c.486A>G
c.618A>G (p.Gly206=)
c.306A>G (p.Gly102=)
Xg.107649993A>TCA517921678PRPS1c.819A>T (p.Gly273=)
c.301A>T
c.918A>T (p.Gly306=)
c.802-585A>T (n.802-585A>T)
c.*387A>T (n.*387A>T)
c.*611A>T (n.*611A>T)
c.54A>T (p.Gly18=)
c.510A>T
c.22-623A>T
c.*46A>T (n.*46A>T)
c.486A>T
c.618A>T (p.Gly206=)
c.306A>T (p.Gly102=)
 COSMIC
Xg.107649994G>ACA413816491PRPS1c.820G>A (p.Glu274Lys)
c.302G>A
c.919G>A (p.Glu307Lys)
c.802-584G>A (n.802-584G>A)
c.*388G>A (n.*388G>A)
c.*612G>A (n.*612G>A)
c.55G>A (p.Glu19Lys)
c.511G>A
c.22-622G>A
c.*47G>A (n.*47G>A)
c.487G>A
c.619G>A (p.Glu207Lys)
c.307G>A (p.Glu103Lys)
Xg.107649994G>CCA413816497PRPS1c.820G>C (p.Glu274Gln)
c.302G>C
c.919G>C (p.Glu307Gln)
c.802-584G>C (n.802-584G>C)
c.*388G>C (n.*388G>C)
c.*612G>C (n.*612G>C)
c.55G>C (p.Glu19Gln)
c.511G>C
c.22-622G>C
c.*47G>C (n.*47G>C)
c.487G>C
c.619G>C (p.Glu207Gln)
c.307G>C (p.Glu103Gln)
Xg.107649994G>TCA413816498PRPS1c.820G>T (p.Glu274Ter)
c.302G>T
c.919G>T (p.Glu307Ter)
c.802-584G>T (n.802-584G>T)
c.*388G>T (n.*388G>T)
c.*612G>T (n.*612G>T)
c.55G>T (p.Glu19Ter)
c.511G>T
c.22-622G>T
c.*47G>T (n.*47G>T)
c.487G>T
c.619G>T (p.Glu207Ter)
c.307G>T (p.Glu103Ter)
Xg.107649995A>CCA413816499PRPS1c.821A>C (p.Glu274Ala)
c.303A>C
c.920A>C (p.Glu307Ala)
c.802-583A>C (n.802-583A>C)
c.*389A>C (n.*389A>C)
c.*613A>C (n.*613A>C)
c.56A>C (p.Glu19Ala)
c.512A>C
c.22-621A>C
c.*48A>C (n.*48A>C)
c.488A>C
c.620A>C (p.Glu207Ala)
c.308A>C (p.Glu103Ala)
Xg.107649995A>GCA413816502PRPS1c.821A>G (p.Glu274Gly)
c.303A>G
c.920A>G (p.Glu307Gly)
c.802-583A>G (n.802-583A>G)
c.*389A>G (n.*389A>G)
c.*613A>G (n.*613A>G)
c.56A>G (p.Glu19Gly)
c.512A>G
c.22-621A>G
c.*48A>G (n.*48A>G)
c.488A>G
c.620A>G (p.Glu207Gly)
c.308A>G (p.Glu103Gly)
Xg.107649995A>TCA413816507PRPS1c.821A>T (p.Glu274Val)
c.303A>T
c.920A>T (p.Glu307Val)
c.802-583A>T (n.802-583A>T)
c.*389A>T (n.*389A>T)
c.*613A>T (n.*613A>T)
c.56A>T (p.Glu19Val)
c.512A>T
c.22-621A>T
c.*48A>T (n.*48A>T)
c.488A>T
c.620A>T (p.Glu207Val)
c.308A>T (p.Glu103Val)
Xg.107649996A>CCA413816508PRPS1c.822A>C (p.Glu274Asp)
c.304A>C
c.921A>C (p.Glu307Asp)
c.802-582A>C (n.802-582A>C)
c.*390A>C (n.*390A>C)
c.*614A>C (n.*614A>C)
c.57A>C (p.Glu19Asp)
c.513A>C
c.22-620A>C
c.*49A>C (n.*49A>C)
c.489A>C
c.621A>C (p.Glu207Asp)
c.309A>C (p.Glu103Asp)
Xg.107649996A>GCA517921680PRPS1c.822A>G (p.Glu274=)
c.304A>G
c.921A>G (p.Glu307=)
c.802-582A>G (n.802-582A>G)
c.*390A>G (n.*390A>G)
c.*614A>G (n.*614A>G)
c.57A>G (p.Glu19=)
c.513A>G
c.22-620A>G
c.*49A>G (n.*49A>G)
c.489A>G
c.621A>G (p.Glu207=)
c.309A>G (p.Glu103=)
Xg.107649996A>TCA413816509PRPS1c.822A>T (p.Glu274Asp)
c.304A>T
c.921A>T (p.Glu307Asp)
c.802-582A>T (n.802-582A>T)
c.*390A>T (n.*390A>T)
c.*614A>T (n.*614A>T)
c.57A>T (p.Glu19Asp)
c.513A>T
c.22-620A>T
c.*49A>T (n.*49A>T)
c.489A>T
c.621A>T (p.Glu207Asp)
c.309A>T (p.Glu103Asp)
Xg.107649997T>ACA413816516PRPS1c.823T>A (p.Ser275Thr)
c.305T>A
c.922T>A (p.Ser308Thr)
c.802-581T>A (n.802-581T>A)
c.*391T>A (n.*391T>A)
c.*615T>A (n.*615T>A)
c.58T>A (p.Ser20Thr)
c.514T>A
c.22-619T>A
c.*50T>A (n.*50T>A)
c.490T>A
c.622T>A (p.Ser208Thr)
c.310T>A (p.Ser104Thr)
Xg.107649997T>CCA413816518PRPS1c.823T>C (p.Ser275Pro)
c.305T>C
c.922T>C (p.Ser308Pro)
c.802-581T>C (n.802-581T>C)
c.*391T>C (n.*391T>C)
c.*615T>C (n.*615T>C)
c.58T>C (p.Ser20Pro)
c.514T>C
c.22-619T>C
c.*50T>C (n.*50T>C)
c.490T>C
c.622T>C (p.Ser208Pro)
c.310T>C (p.Ser104Pro)
Xg.107649997T>GCA413816521PRPS1c.823T>G (p.Ser275Ala)
c.305T>G
c.922T>G (p.Ser308Ala)
c.802-581T>G (n.802-581T>G)
c.*391T>G (n.*391T>G)
c.*615T>G (n.*615T>G)
c.58T>G (p.Ser20Ala)
c.514T>G
c.22-619T>G
c.*50T>G (n.*50T>G)
c.490T>G
c.622T>G (p.Ser208Ala)
c.310T>G (p.Ser104Ala)
Xg.107649998C>ACA413816551PRPS1c.824C>A (p.Ser275Tyr)
c.306C>A
c.923C>A (p.Ser308Tyr)
c.802-580C>A (n.802-580C>A)
c.*392C>A (n.*392C>A)
c.*616C>A (n.*616C>A)
c.59C>A (p.Ser20Tyr)
c.515C>A
c.22-618C>A
c.*51C>A (n.*51C>A)
c.491C>A
c.623C>A (p.Ser208Tyr)
c.311C>A (p.Ser104Tyr)
Xg.107649998C>GCA413816540PRPS1c.824C>G (p.Ser275Cys)
c.306C>G
c.923C>G (p.Ser308Cys)
c.802-580C>G (n.802-580C>G)
c.*392C>G (n.*392C>G)
c.*616C>G (n.*616C>G)
c.59C>G (p.Ser20Cys)
c.515C>G
c.22-618C>G
c.*51C>G (n.*51C>G)
c.491C>G
c.623C>G (p.Ser208Cys)
c.311C>G (p.Ser104Cys)
Xg.107649998C>TCA413816528PRPS1c.824C>T (p.Ser275Phe)
c.306C>T
c.923C>T (p.Ser308Phe)
c.802-580C>T (n.802-580C>T)
c.*392C>T (n.*392C>T)
c.*616C>T (n.*616C>T)
c.59C>T (p.Ser20Phe)
c.515C>T
c.22-618C>T
c.*51C>T (n.*51C>T)
c.491C>T
c.623C>T (p.Ser208Phe)
c.311C>T (p.Ser104Phe)
Xg.107649999C>ACA10485699PRPS1c.825C>A (p.Ser275=)
c.307C>A
c.924C>A (p.Ser308=)
c.802-579C>A (n.802-579C>A)
c.*393C>A (n.*393C>A)
c.*617C>A (n.*617C>A)
c.60C>A (p.Ser20=)
c.516C>A
c.22-617C>A
c.*52C>A (n.*52C>A)
c.492C>A
c.624C>A (p.Ser208=)
c.312C>A (p.Ser104=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.107649999C=CA2450376214PRPS1c.825C= (p.Ser275=)
c.307C=
c.924C= (p.Ser308=)
c.802-579C= (n.802-579C=)
c.*393C= (n.*393C=)
c.*617C= (n.*617C=)
c.60C= (p.Ser20=)
c.516C=
c.22-617C=
c.*52C= (n.*52C=)
c.492C=
c.624C= (p.Ser208=)
c.312C= (p.Ser104=)
Xg.107649999C>GCA517921681PRPS1c.825C>G (p.Ser275=)
c.307C>G
c.924C>G (p.Ser308=)
c.802-579C>G (n.802-579C>G)
c.*393C>G (n.*393C>G)
c.*617C>G (n.*617C>G)
c.60C>G (p.Ser20=)
c.516C>G
c.22-617C>G
c.*52C>G (n.*52C>G)
c.492C>G
c.624C>G (p.Ser208=)
c.312C>G (p.Ser104=)
Xg.107649999C>TCA10485698PRPS1c.825C>T (p.Ser275=)
c.307C>T
c.924C>T (p.Ser308=)
c.802-579C>T (n.802-579C>T)
c.*393C>T (n.*393C>T)
c.*617C>T (n.*617C>T)
c.60C>T (p.Ser20=)
c.516C>T
c.22-617C>T
c.*52C>T (n.*52C>T)
c.492C>T
c.624C>T (p.Ser208=)
c.312C>T (p.Ser104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.107650000G>ACA413816587PRPS1c.826G>A (p.Val276Ile)
c.308G>A
c.925G>A (p.Val309Ile)
c.802-578G>A (n.802-578G>A)
c.*394G>A (n.*394G>A)
c.*618G>A (n.*618G>A)
c.61G>A (p.Val21Ile)
c.517G>A
c.22-616G>A
c.*53G>A (n.*53G>A)
c.493G>A
c.625G>A (p.Val209Ile)
c.313G>A (p.Val105Ile)
 ClinVar gnomAD v4
Xg.107650000G>CCA413816599PRPS1c.826G>C (p.Val276Leu)
c.308G>C
c.925G>C (p.Val309Leu)
c.802-578G>C (n.802-578G>C)
c.*394G>C (n.*394G>C)
c.*618G>C (n.*618G>C)
c.61G>C (p.Val21Leu)
c.517G>C
c.22-616G>C
c.*53G>C (n.*53G>C)
c.493G>C
c.625G>C (p.Val209Leu)
c.313G>C (p.Val105Leu)
Xg.107650000G=CA2450376215PRPS1c.826G= (p.Val276=)
c.308G=
c.925G= (p.Val309=)
c.802-578G= (n.802-578G=)
c.*394G= (n.*394G=)
c.*618G= (n.*618G=)
c.61G= (p.Val21=)
c.517G=
c.22-616G=
c.*53G= (n.*53G=)
c.493G=
c.625G= (p.Val209=)
c.313G= (p.Val105=)
Xg.107650000G>TCA270662PRPS1c.826G>T (p.Val276Phe)
c.308G>T
c.925G>T (p.Val309Phe)
c.802-578G>T (n.802-578G>T)
c.*394G>T (n.*394G>T)
c.*618G>T (n.*618G>T)
c.61G>T (p.Val21Phe)
c.517G>T
c.22-616G>T
c.*53G>T (n.*53G>T)
c.493G>T
c.625G>T (p.Val209Phe)
c.313G>T (p.Val105Phe)
 ClinVar dbSNP
Xg.107650001T>ACA413816612PRPS1c.827T>A (p.Val276Asp)
c.309T>A
c.926T>A (p.Val309Asp)
c.802-577T>A (n.802-577T>A)
c.*395T>A (n.*395T>A)
c.*619T>A (n.*619T>A)
c.62T>A (p.Val21Asp)
c.518T>A
c.22-615T>A
c.*54T>A (n.*54T>A)
c.494T>A
c.626T>A (p.Val209Asp)
c.314T>A (p.Val105Asp)
Xg.107650001T>CCA413816621PRPS1c.827T>C (p.Val276Ala)
c.309T>C
c.926T>C (p.Val309Ala)
c.802-577T>C (n.802-577T>C)
c.*395T>C (n.*395T>C)
c.*619T>C (n.*619T>C)
c.62T>C (p.Val21Ala)
c.518T>C
c.22-615T>C
c.*54T>C (n.*54T>C)
c.494T>C
c.626T>C (p.Val209Ala)
c.314T>C (p.Val105Ala)
Xg.107650001T>GCA413816627PRPS1c.827T>G (p.Val276Gly)
c.309T>G
c.926T>G (p.Val309Gly)
c.802-577T>G (n.802-577T>G)
c.*395T>G (n.*395T>G)
c.*619T>G (n.*619T>G)
c.62T>G (p.Val21Gly)
c.518T>G
c.22-615T>G
c.*54T>G (n.*54T>G)
c.494T>G
c.626T>G (p.Val209Gly)
c.314T>G (p.Val105Gly)
Xg.107650002T>ACA517921683PRPS1c.828T>A (p.Val276=)
c.310T>A
c.927T>A (p.Val309=)
c.802-576T>A (n.802-576T>A)
c.*396T>A (n.*396T>A)
c.*620T>A (n.*620T>A)
c.63T>A (p.Val21=)
c.519T>A
c.22-614T>A
c.*55T>A (n.*55T>A)
c.495T>A
c.627T>A (p.Val209=)
c.315T>A (p.Val105=)
Xg.107650002T>CCA517921684PRPS1c.828T>C (p.Val276=)
c.310T>C
c.927T>C (p.Val309=)
c.802-576T>C (n.802-576T>C)
c.*396T>C (n.*396T>C)
c.*620T>C (n.*620T>C)
c.63T>C (p.Val21=)
c.519T>C
c.22-614T>C
c.*55T>C (n.*55T>C)
c.495T>C
c.627T>C (p.Val209=)
c.315T>C (p.Val105=)
Xg.107650002T>GCA517921685PRPS1c.828T>G (p.Val276=)
c.310T>G
c.927T>G (p.Val309=)
c.802-576T>G (n.802-576T>G)
c.*396T>G (n.*396T>G)
c.*620T>G (n.*620T>G)
c.63T>G (p.Val21=)
c.519T>G
c.22-614T>G
c.*55T>G (n.*55T>G)
c.495T>G
c.627T>G (p.Val209=)
c.315T>G (p.Val105=)
Xg.107650003T>ACA413816637PRPS1c.829T>A (p.Ser277Thr)
c.311T>A
c.928T>A (p.Ser310Thr)
c.802-575T>A (n.802-575T>A)
c.*397T>A (n.*397T>A)
c.*621T>A (n.*621T>A)
c.64T>A (p.Ser22Thr)
c.520T>A
c.22-613T>A
c.*56T>A (n.*56T>A)
c.496T>A
c.628T>A (p.Ser210Thr)
c.316T>A (p.Ser106Thr)
Xg.107650003T>CCA413816645PRPS1c.829T>C (p.Ser277Pro)
c.311T>C
c.928T>C (p.Ser310Pro)
c.802-575T>C (n.802-575T>C)
c.*397T>C (n.*397T>C)
c.*621T>C (n.*621T>C)
c.64T>C (p.Ser22Pro)
c.520T>C
c.22-613T>C
c.*56T>C (n.*56T>C)
c.496T>C
c.628T>C (p.Ser210Pro)
c.316T>C (p.Ser106Pro)
Xg.107650003T>GCA413816652PRPS1c.829T>G (p.Ser277Ala)
c.311T>G
c.928T>G (p.Ser310Ala)
c.802-575T>G (n.802-575T>G)
c.*397T>G (n.*397T>G)
c.*621T>G (n.*621T>G)
c.64T>G (p.Ser22Ala)
c.520T>G
c.22-613T>G
c.*56T>G (n.*56T>G)
c.496T>G
c.628T>G (p.Ser210Ala)
c.316T>G (p.Ser106Ala)
Xg.107650004C>ACA413816653PRPS1c.830C>A (p.Ser277Tyr)
c.312C>A
c.929C>A (p.Ser310Tyr)
c.802-574C>A (n.802-574C>A)
c.*398C>A (n.*398C>A)
c.*622C>A (n.*622C>A)
c.65C>A (p.Ser22Tyr)
c.521C>A
c.22-612C>A
c.*57C>A (n.*57C>A)
c.497C>A
c.629C>A (p.Ser210Tyr)
c.317C>A (p.Ser106Tyr)
Xg.107650004C>GCA413816655PRPS1c.830C>G (p.Ser277Cys)
c.312C>G
c.929C>G (p.Ser310Cys)
c.802-574C>G (n.802-574C>G)
c.*398C>G (n.*398C>G)
c.*622C>G (n.*622C>G)
c.65C>G (p.Ser22Cys)
c.521C>G
c.22-612C>G
c.*57C>G (n.*57C>G)
c.497C>G
c.629C>G (p.Ser210Cys)
c.317C>G (p.Ser106Cys)
Xg.107650004C>TCA413816657PRPS1c.830C>T (p.Ser277Phe)
c.312C>T
c.929C>T (p.Ser310Phe)
c.802-574C>T (n.802-574C>T)
c.*398C>T (n.*398C>T)
c.*622C>T (n.*622C>T)
c.65C>T (p.Ser22Phe)
c.521C>T
c.22-612C>T
c.*57C>T (n.*57C>T)
c.497C>T
c.629C>T (p.Ser210Phe)
c.317C>T (p.Ser106Phe)
Xg.107650005T>ACA517921686PRPS1c.831T>A (p.Ser277=)
c.313T>A
c.930T>A (p.Ser310=)
c.802-573T>A (n.802-573T>A)
c.*399T>A (n.*399T>A)
c.*623T>A (n.*623T>A)
c.66T>A (p.Ser22=)
c.522T>A
c.22-611T>A
c.*58T>A (n.*58T>A)
c.498T>A
c.630T>A (p.Ser210=)
c.318T>A (p.Ser106=)
Xg.107650005T>CCA517921687PRPS1c.831T>C (p.Ser277=)
c.313T>C
c.930T>C (p.Ser310=)
c.802-573T>C (n.802-573T>C)
c.*399T>C (n.*399T>C)
c.*623T>C (n.*623T>C)
c.66T>C (p.Ser22=)
c.522T>C
c.22-611T>C
c.*58T>C (n.*58T>C)
c.498T>C
c.630T>C (p.Ser210=)
c.318T>C (p.Ser106=)
Xg.107650005T>GCA517921688PRPS1c.831T>G (p.Ser277=)
c.313T>G
c.930T>G (p.Ser310=)
c.802-573T>G (n.802-573T>G)
c.*399T>G (n.*399T>G)
c.*623T>G (n.*623T>G)
c.66T>G (p.Ser22=)
c.522T>G
c.22-611T>G
c.*58T>G (n.*58T>G)
c.498T>G
c.630T>G (p.Ser210=)
c.318T>G (p.Ser106=)
Xg.107650006T>ACA413816668PRPS1c.832T>A (p.Tyr278Asn)
c.314T>A
c.931T>A (p.Tyr311Asn)
c.802-572T>A (n.802-572T>A)
c.*400T>A (n.*400T>A)
c.*624T>A (n.*624T>A)
c.67T>A (p.Tyr23Asn)
c.523T>A
c.22-610T>A
c.*59T>A (n.*59T>A)
c.499T>A
c.631T>A (p.Tyr211Asn)
c.319T>A (p.Tyr107Asn)
Xg.107650006T>CCA413816670PRPS1c.832T>C (p.Tyr278His)
c.314T>C
c.931T>C (p.Tyr311His)
c.802-572T>C (n.802-572T>C)
c.*400T>C (n.*400T>C)
c.*624T>C (n.*624T>C)
c.67T>C (p.Tyr23His)
c.523T>C
c.22-610T>C
c.*59T>C (n.*59T>C)
c.499T>C
c.631T>C (p.Tyr211His)
c.319T>C (p.Tyr107His)
Xg.107650006T>GCA413816659PRPS1c.832T>G (p.Tyr278Asp)
c.314T>G
c.931T>G (p.Tyr311Asp)
c.802-572T>G (n.802-572T>G)
c.*400T>G (n.*400T>G)
c.*624T>G (n.*624T>G)
c.67T>G (p.Tyr23Asp)
c.523T>G
c.22-610T>G
c.*59T>G (n.*59T>G)
c.499T>G
c.631T>G (p.Tyr211Asp)
c.319T>G (p.Tyr107Asp)
Xg.107650007A>CCA413816674PRPS1c.833A>C (p.Tyr278Ser)
c.315A>C
c.932A>C (p.Tyr311Ser)
c.802-571A>C (n.802-571A>C)
c.*401A>C (n.*401A>C)
c.*625A>C (n.*625A>C)
c.68A>C (p.Tyr23Ser)
c.524A>C
c.22-609A>C
c.*60A>C (n.*60A>C)
c.500A>C
c.632A>C (p.Tyr211Ser)
c.320A>C (p.Tyr107Ser)
Xg.107650007A>GCA413816676PRPS1c.833A>G (p.Tyr278Cys)
c.315A>G
c.932A>G (p.Tyr311Cys)
c.802-571A>G (n.802-571A>G)
c.*401A>G (n.*401A>G)
c.*625A>G (n.*625A>G)
c.68A>G (p.Tyr23Cys)
c.524A>G
c.22-609A>G
c.*60A>G (n.*60A>G)
c.500A>G
c.632A>G (p.Tyr211Cys)
c.320A>G (p.Tyr107Cys)
Xg.107650007A>TCA413816677PRPS1c.833A>T (p.Tyr278Phe)
c.315A>T
c.932A>T (p.Tyr311Phe)
c.802-571A>T (n.802-571A>T)
c.*401A>T (n.*401A>T)
c.*625A>T (n.*625A>T)
c.68A>T (p.Tyr23Phe)
c.524A>T
c.22-609A>T
c.*60A>T (n.*60A>T)
c.500A>T
c.632A>T (p.Tyr211Phe)
c.320A>T (p.Tyr107Phe)
Xg.107650008C>ACA413816678PRPS1c.834C>A (p.Tyr278Ter)
c.316C>A
c.933C>A (p.Tyr311Ter)
c.802-570C>A (n.802-570C>A)
c.*402C>A (n.*402C>A)
c.*626C>A (n.*626C>A)
c.69C>A (p.Tyr23Ter)
c.525C>A
c.22-608C>A
c.*61C>A (n.*61C>A)
c.501C>A
c.633C>A (p.Tyr211Ter)
c.321C>A (p.Tyr107Ter)
Xg.107650008C>GCA413816687PRPS1c.834C>G (p.Tyr278Ter)
c.316C>G
c.933C>G (p.Tyr311Ter)
c.802-570C>G (n.802-570C>G)
c.*402C>G (n.*402C>G)
c.*626C>G (n.*626C>G)
c.69C>G (p.Tyr23Ter)
c.525C>G
c.22-608C>G
c.*61C>G (n.*61C>G)
c.501C>G
c.633C>G (p.Tyr211Ter)
c.321C>G (p.Tyr107Ter)
Xg.107650008C>TCA517921689PRPS1c.834C>T (p.Tyr278=)
c.316C>T
c.933C>T (p.Tyr311=)
c.802-570C>T (n.802-570C>T)
c.*402C>T (n.*402C>T)
c.*626C>T (n.*626C>T)
c.69C>T (p.Tyr23=)
c.525C>T
c.22-608C>T
c.*61C>T (n.*61C>T)
c.501C>T
c.633C>T (p.Tyr211=)
c.321C>T (p.Tyr107=)
Xg.107650009C>ACA413816689PRPS1c.835C>A (p.Leu279Ile)
c.317C>A
c.934C>A (p.Leu312Ile)
c.802-569C>A (n.802-569C>A)
c.*403C>A (n.*403C>A)
c.*627C>A (n.*627C>A)
c.70C>A (p.Leu24Ile)
c.526C>A
c.22-607C>A
c.*62C>A (n.*62C>A)
c.502C>A
c.634C>A (p.Leu212Ile)
c.322C>A (p.Leu108Ile)
Xg.107650009C>GCA413816696PRPS1c.835C>G (p.Leu279Val)
c.317C>G
c.934C>G (p.Leu312Val)
c.802-569C>G (n.802-569C>G)
c.*403C>G (n.*403C>G)
c.*627C>G (n.*627C>G)
c.70C>G (p.Leu24Val)
c.526C>G
c.22-607C>G
c.*62C>G (n.*62C>G)
c.502C>G
c.634C>G (p.Leu212Val)
c.322C>G (p.Leu108Val)
 COSMIC
Xg.107650009C>TCA517921690PRPS1c.835C>T (p.Leu279=)
c.317C>T
c.934C>T (p.Leu312=)
c.802-569C>T (n.802-569C>T)
c.*403C>T (n.*403C>T)
c.*627C>T (n.*627C>T)
c.70C>T (p.Leu24=)
c.526C>T
c.22-607C>T
c.*62C>T (n.*62C>T)
c.502C>T
c.634C>T (p.Leu212=)
c.322C>T (p.Leu108=)
 ClinVar gnomAD v4
Xg.107650010T>ACA413816702PRPS1c.836T>A (p.Leu279Gln)
c.318T>A
c.935T>A (p.Leu312Gln)
c.802-568T>A (n.802-568T>A)
c.*404T>A (n.*404T>A)
c.*628T>A (n.*628T>A)
c.71T>A (p.Leu24Gln)
c.527T>A
c.22-606T>A
c.*63T>A (n.*63T>A)
c.503T>A
c.635T>A (p.Leu212Gln)
c.323T>A (p.Leu108Gln)
Xg.107650010T>CCA413816703PRPS1c.836T>C (p.Leu279Pro)
c.318T>C
c.935T>C (p.Leu312Pro)
c.802-568T>C (n.802-568T>C)
c.*404T>C (n.*404T>C)
c.*628T>C (n.*628T>C)
c.71T>C (p.Leu24Pro)
c.527T>C
c.22-606T>C
c.*63T>C (n.*63T>C)
c.503T>C
c.635T>C (p.Leu212Pro)
c.323T>C (p.Leu108Pro)
Xg.107650010T>GCA413816705PRPS1c.836T>G (p.Leu279Arg)
c.318T>G
c.935T>G (p.Leu312Arg)
c.802-568T>G (n.802-568T>G)
c.*404T>G (n.*404T>G)
c.*628T>G (n.*628T>G)
c.71T>G (p.Leu24Arg)
c.527T>G
c.22-606T>G
c.*63T>G (n.*63T>G)
c.503T>G
c.635T>G (p.Leu212Arg)
c.323T>G (p.Leu108Arg)
Xg.107650011A>CCA517921691PRPS1c.837A>C (p.Leu279=)
c.319A>C
c.936A>C (p.Leu312=)
c.802-567A>C (n.802-567A>C)
c.*405A>C (n.*405A>C)
c.*629A>C (n.*629A>C)
c.72A>C (p.Leu24=)
c.528A>C
c.22-605A>C
c.*64A>C (n.*64A>C)
c.504A>C
c.636A>C (p.Leu212=)
c.324A>C (p.Leu108=)
Xg.107650011A>GCA517921693PRPS1c.837A>G (p.Leu279=)
c.319A>G
c.936A>G (p.Leu312=)
c.802-567A>G (n.802-567A>G)
c.*405A>G (n.*405A>G)
c.*629A>G (n.*629A>G)
c.72A>G (p.Leu24=)
c.528A>G
c.22-605A>G
c.*64A>G (n.*64A>G)
c.504A>G
c.636A>G (p.Leu212=)
c.324A>G (p.Leu108=)
 ClinVar gnomAD v4 COSMIC
Xg.107650011A>TCA517921692PRPS1c.837A>T (p.Leu279=)
c.319A>T
c.936A>T (p.Leu312=)
c.802-567A>T (n.802-567A>T)
c.*405A>T (n.*405A>T)
c.*629A>T (n.*629A>T)
c.72A>T (p.Leu24=)
c.528A>T
c.22-605A>T
c.*64A>T (n.*64A>T)
c.504A>T
c.636A>T (p.Leu212=)
c.324A>T (p.Leu108=)
Xg.107650012_107650015dupCA2695235321PRPS1c.838_841dup (p.Ser281IlefsTer10)
c.320_323dup
c.937_940dup (p.Ser314IlefsTer10)
c.802-566_802-563dup (n.802-566_802-563dup)
c.*406_*409dup (n.*406_*409dup)
c.*630_*633dup (n.*630_*633dup)
c.73_76dup (p.Ser26IlefsTer10)
c.529_532dup
c.22-604_22-601dup
c.*65_*68dup (n.*65_*68dup)
c.505_508dup
c.637_640dup (p.Ser214IlefsTer10)
c.325_328dup (p.Ser110IlefsTer10)
Xg.107650012T>ACA413816715PRPS1c.838T>A (p.Phe280Ile)
c.320T>A
c.937T>A (p.Phe313Ile)
c.802-566T>A (n.802-566T>A)
c.*406T>A (n.*406T>A)
c.*630T>A (n.*630T>A)
c.73T>A (p.Phe25Ile)
c.529T>A
c.22-604T>A
c.*65T>A (n.*65T>A)
c.505T>A
c.637T>A (p.Phe213Ile)
c.325T>A (p.Phe109Ile)
Xg.107650012T>CCA413816734PRPS1c.838T>C (p.Phe280Leu)
c.320T>C
c.937T>C (p.Phe313Leu)
c.802-566T>C (n.802-566T>C)
c.*406T>C (n.*406T>C)
c.*630T>C (n.*630T>C)
c.73T>C (p.Phe25Leu)
c.529T>C
c.22-604T>C
c.*65T>C (n.*65T>C)
c.505T>C
c.637T>C (p.Phe213Leu)
c.325T>C (p.Phe109Leu)
Xg.107650012T>GCA413816755PRPS1c.838T>G (p.Phe280Val)
c.320T>G
c.937T>G (p.Phe313Val)
c.802-566T>G (n.802-566T>G)
c.*406T>G (n.*406T>G)
c.*630T>G (n.*630T>G)
c.73T>G (p.Phe25Val)
c.529T>G
c.22-604T>G
c.*65T>G (n.*65T>G)
c.505T>G
c.637T>G (p.Phe213Val)
c.325T>G (p.Phe109Val)
Xg.107650013T>ACA413816801PRPS1c.839T>A (p.Phe280Tyr)
c.321T>A
c.938T>A (p.Phe313Tyr)
c.802-565T>A (n.802-565T>A)
c.*407T>A (n.*407T>A)
c.*631T>A (n.*631T>A)
c.74T>A (p.Phe25Tyr)
c.530T>A
c.22-603T>A
c.*66T>A (n.*66T>A)
c.506T>A
c.638T>A (p.Phe213Tyr)
c.326T>A (p.Phe109Tyr)
Xg.107650013T>CCA413816789PRPS1c.839T>C (p.Phe280Ser)
c.321T>C
c.938T>C (p.Phe313Ser)
c.802-565T>C (n.802-565T>C)
c.*407T>C (n.*407T>C)
c.*631T>C (n.*631T>C)
c.74T>C (p.Phe25Ser)
c.530T>C
c.22-603T>C
c.*66T>C (n.*66T>C)
c.506T>C
c.638T>C (p.Phe213Ser)
c.326T>C (p.Phe109Ser)
Xg.107650013T>GCA413816795PRPS1c.839T>G (p.Phe280Cys)
c.321T>G
c.938T>G (p.Phe313Cys)
c.802-565T>G (n.802-565T>G)
c.*407T>G (n.*407T>G)
c.*631T>G (n.*631T>G)
c.74T>G (p.Phe25Cys)
c.530T>G
c.22-603T>G
c.*66T>G (n.*66T>G)
c.506T>G
c.638T>G (p.Phe213Cys)
c.326T>G (p.Phe109Cys)
Xg.107650014C>ACA413816802PRPS1c.840C>A (p.Phe280Leu)
c.322C>A
c.939C>A (p.Phe313Leu)
c.802-564C>A (n.802-564C>A)
c.*408C>A (n.*408C>A)
c.*632C>A (n.*632C>A)
c.75C>A (p.Phe25Leu)
c.531C>A
c.22-602C>A
c.*67C>A (n.*67C>A)
c.507C>A
c.639C>A (p.Phe213Leu)
c.327C>A (p.Phe109Leu)
Xg.107650014C>GCA413816803PRPS1c.840C>G (p.Phe280Leu)
c.322C>G
c.939C>G (p.Phe313Leu)
c.802-564C>G (n.802-564C>G)
c.*408C>G (n.*408C>G)
c.*632C>G (n.*632C>G)
c.75C>G (p.Phe25Leu)
c.531C>G
c.22-602C>G
c.*67C>G (n.*67C>G)
c.507C>G
c.639C>G (p.Phe213Leu)
c.327C>G (p.Phe109Leu)
Xg.107650014C>TCA517921694PRPS1c.840C>T (p.Phe280=)
c.322C>T
c.939C>T (p.Phe313=)
c.802-564C>T (n.802-564C>T)
c.*408C>T (n.*408C>T)
c.*632C>T (n.*632C>T)
c.75C>T (p.Phe25=)
c.531C>T
c.22-602C>T
c.*67C>T (n.*67C>T)
c.507C>T
c.639C>T (p.Phe213=)
c.327C>T (p.Phe109=)
Xg.107650015A>CCA413816805PRPS1c.841A>C (p.Ser281Arg)
c.323A>C
c.940A>C (p.Ser314Arg)
c.802-563A>C (n.802-563A>C)
c.*409A>C (n.*409A>C)
c.*633A>C (n.*633A>C)
c.76A>C (p.Ser26Arg)
c.532A>C
c.22-601A>C
c.*68A>C (n.*68A>C)
c.508A>C
c.640A>C (p.Ser214Arg)
c.328A>C (p.Ser110Arg)
Xg.107650015A>GCA413816807PRPS1c.841A>G (p.Ser281Gly)
c.323A>G
c.940A>G (p.Ser314Gly)
c.802-563A>G (n.802-563A>G)
c.*409A>G (n.*409A>G)
c.*633A>G (n.*633A>G)
c.76A>G (p.Ser26Gly)
c.532A>G
c.22-601A>G
c.*68A>G (n.*68A>G)
c.508A>G
c.640A>G (p.Ser214Gly)
c.328A>G (p.Ser110Gly)
Xg.107650015A>TCA413816808PRPS1c.841A>T (p.Ser281Cys)
c.323A>T
c.940A>T (p.Ser314Cys)
c.802-563A>T (n.802-563A>T)
c.*409A>T (n.*409A>T)
c.*633A>T (n.*633A>T)
c.76A>T (p.Ser26Cys)
c.532A>T
c.22-601A>T
c.*68A>T (n.*68A>T)
c.508A>T
c.640A>T (p.Ser214Cys)
c.328A>T (p.Ser110Cys)
 ClinVar
Xg.107650016G>ACA413816813PRPS1c.842G>A (p.Ser281Asn)
c.324G>A
c.941G>A (p.Ser314Asn)
c.802-562G>A (n.802-562G>A)
c.*410G>A (n.*410G>A)
c.*634G>A (n.*634G>A)
c.77G>A (p.Ser26Asn)
c.533G>A
c.22-600G>A
c.*69G>A (n.*69G>A)
c.509G>A
c.641G>A (p.Ser214Asn)
c.329G>A (p.Ser110Asn)
Xg.107650016G>CCA413816822PRPS1c.842G>C (p.Ser281Thr)
c.324G>C
c.941G>C (p.Ser314Thr)
c.802-562G>C (n.802-562G>C)
c.*410G>C (n.*410G>C)
c.*634G>C (n.*634G>C)
c.77G>C (p.Ser26Thr)
c.533G>C
c.22-600G>C
c.*69G>C (n.*69G>C)
c.509G>C
c.641G>C (p.Ser214Thr)
c.329G>C (p.Ser110Thr)
Xg.107650016G>TCA413816828PRPS1c.842G>T (p.Ser281Ile)
c.324G>T
c.941G>T (p.Ser314Ile)
c.802-562G>T (n.802-562G>T)
c.*410G>T (n.*410G>T)
c.*634G>T (n.*634G>T)
c.77G>T (p.Ser26Ile)
c.533G>T
c.22-600G>T
c.*69G>T (n.*69G>T)
c.509G>T
c.641G>T (p.Ser214Ile)
c.329G>T (p.Ser110Ile)
Xg.107650017C>ACA413816829PRPS1c.843C>A (p.Ser281Arg)
c.325C>A
c.942C>A (p.Ser314Arg)
c.802-561C>A (n.802-561C>A)
c.*411C>A (n.*411C>A)
c.*635C>A (n.*635C>A)
c.78C>A (p.Ser26Arg)
c.534C>A
c.22-599C>A
c.*70C>A (n.*70C>A)
c.510C>A
c.642C>A (p.Ser214Arg)
c.330C>A (p.Ser110Arg)
Xg.107650017C=CA2450376216PRPS1c.843C= (p.Ser281=)
c.325C=
c.942C= (p.Ser314=)
c.802-561C= (n.802-561C=)
c.*411C= (n.*411C=)
c.*635C= (n.*635C=)
c.78C= (p.Ser26=)
c.534C=
c.22-599C=
c.*70C= (n.*70C=)
c.510C=
c.642C= (p.Ser214=)
c.330C= (p.Ser110=)
Xg.107650017C>GCA413816830PRPS1c.843C>G (p.Ser281Arg)
c.325C>G
c.942C>G (p.Ser314Arg)
c.802-561C>G (n.802-561C>G)
c.*411C>G (n.*411C>G)
c.*635C>G (n.*635C>G)
c.78C>G (p.Ser26Arg)
c.534C>G
c.22-599C>G
c.*70C>G (n.*70C>G)
c.510C>G
c.642C>G (p.Ser214Arg)
c.330C>G (p.Ser110Arg)
Xg.107650017C>TCA10485700PRPS1c.843C>T (p.Ser281=)
c.325C>T
c.942C>T (p.Ser314=)
c.802-561C>T (n.802-561C>T)
c.*411C>T (n.*411C>T)
c.*635C>T (n.*635C>T)
c.78C>T (p.Ser26=)
c.534C>T
c.22-599C>T
c.*70C>T (n.*70C>T)
c.510C>T
c.642C>T (p.Ser214=)
c.330C>T (p.Ser110=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.107650018C>ACA413816877PRPS1c.844C>A (p.His282Asn)
c.326C>A
c.943C>A (p.His315Asn)
c.802-560C>A (n.802-560C>A)
c.*412C>A (n.*412C>A)
c.*636C>A (n.*636C>A)
c.79C>A (p.His27Asn)
c.535C>A
c.22-598C>A
c.*71C>A (n.*71C>A)
c.511C>A
c.643C>A (p.His215Asn)
c.331C>A (p.His111Asn)
Xg.107650018C>GCA413816865PRPS1c.844C>G (p.His282Asp)
c.326C>G
c.943C>G (p.His315Asp)
c.802-560C>G (n.802-560C>G)
c.*412C>G (n.*412C>G)
c.*636C>G (n.*636C>G)
c.79C>G (p.His27Asp)
c.535C>G
c.22-598C>G
c.*71C>G (n.*71C>G)
c.511C>G
c.643C>G (p.His215Asp)
c.331C>G (p.His111Asp)
Xg.107650018C>TCA413816858PRPS1c.844C>T (p.His282Tyr)
c.326C>T
c.943C>T (p.His315Tyr)
c.802-560C>T (n.802-560C>T)
c.*412C>T (n.*412C>T)
c.*636C>T (n.*636C>T)
c.79C>T (p.His27Tyr)
c.535C>T
c.22-598C>T
c.*71C>T (n.*71C>T)
c.511C>T
c.643C>T (p.His215Tyr)
c.331C>T (p.His111Tyr)
Xg.107650019A>CCA413816878PRPS1c.845A>C (p.His282Pro)
c.327A>C
c.944A>C (p.His315Pro)
c.802-559A>C (n.802-559A>C)
c.*413A>C (n.*413A>C)
c.*637A>C (n.*637A>C)
c.80A>C (p.His27Pro)
c.536A>C
c.22-597A>C
c.*72A>C (n.*72A>C)
c.512A>C
c.644A>C (p.His215Pro)
c.332A>C (p.His111Pro)
Xg.107650019A>GCA413816880PRPS1c.845A>G (p.His282Arg)
c.327A>G
c.944A>G (p.His315Arg)
c.802-559A>G (n.802-559A>G)
c.*413A>G (n.*413A>G)
c.*637A>G (n.*637A>G)
c.80A>G (p.His27Arg)
c.536A>G
c.22-597A>G
c.*72A>G (n.*72A>G)
c.512A>G
c.644A>G (p.His215Arg)
c.332A>G (p.His111Arg)
Xg.107650019A>TCA413816879PRPS1c.845A>T (p.His282Leu)
c.327A>T
c.944A>T (p.His315Leu)
c.802-559A>T (n.802-559A>T)
c.*413A>T (n.*413A>T)
c.*637A>T (n.*637A>T)
c.80A>T (p.His27Leu)
c.536A>T
c.22-597A>T
c.*72A>T (n.*72A>T)
c.512A>T
c.644A>T (p.His215Leu)
c.332A>T (p.His111Leu)
Xg.107650020T>ACA413816894PRPS1c.846T>A (p.His282Gln)
c.328T>A
c.945T>A (p.His315Gln)
c.802-558T>A (n.802-558T>A)
c.*414T>A (n.*414T>A)
c.*638T>A (n.*638T>A)
c.81T>A (p.His27Gln)
c.537T>A
c.22-596T>A
c.*73T>A (n.*73T>A)
c.513T>A
c.645T>A (p.His215Gln)
c.333T>A (p.His111Gln)
Xg.107650020T>CCA517921695PRPS1c.846T>C (p.His282=)
c.328T>C
c.945T>C (p.His315=)
c.802-558T>C (n.802-558T>C)
c.*414T>C (n.*414T>C)
c.*638T>C (n.*638T>C)
c.81T>C (p.His27=)
c.537T>C
c.22-596T>C
c.*73T>C (n.*73T>C)
c.513T>C
c.645T>C (p.His215=)
c.333T>C (p.His111=)
 ClinVar dbSNP
Xg.107650020T>GCA413816895PRPS1c.846T>G (p.His282Gln)
c.328T>G
c.945T>G (p.His315Gln)
c.802-558T>G (n.802-558T>G)
c.*414T>G (n.*414T>G)
c.*638T>G (n.*638T>G)
c.81T>G (p.His27Gln)
c.537T>G
c.22-596T>G
c.*73T>G (n.*73T>G)
c.513T>G
c.645T>G (p.His215Gln)
c.333T>G (p.His111Gln)
Xg.107650021G>ACA413816897PRPS1c.847G>A (p.Val283Ile)
c.329G>A
c.946G>A (p.Val316Ile)
c.802-557G>A (n.802-557G>A)
c.*415G>A (n.*415G>A)
c.*639G>A (n.*639G>A)
c.82G>A (p.Val28Ile)
c.538G>A
c.22-595G>A
c.*74G>A (n.*74G>A)
c.514G>A
c.646G>A (p.Val216Ile)
c.334G>A (p.Val112Ile)
Xg.107650021G>CCA413816903PRPS1c.847G>C (p.Val283Leu)
c.329G>C
c.946G>C (p.Val316Leu)
c.802-557G>C (n.802-557G>C)
c.*415G>C (n.*415G>C)
c.*639G>C (n.*639G>C)
c.82G>C (p.Val28Leu)
c.538G>C
c.22-595G>C
c.*74G>C (n.*74G>C)
c.514G>C
c.646G>C (p.Val216Leu)
c.334G>C (p.Val112Leu)
Xg.107650021G>TCA413816919PRPS1c.847G>T (p.Val283Phe)
c.329G>T
c.946G>T (p.Val316Phe)
c.802-557G>T (n.802-557G>T)
c.*415G>T (n.*415G>T)
c.*639G>T (n.*639G>T)
c.82G>T (p.Val28Phe)
c.538G>T
c.22-595G>T
c.*74G>T (n.*74G>T)
c.514G>T
c.646G>T (p.Val216Phe)
c.334G>T (p.Val112Phe)
Xg.107650022T>ACA413816939PRPS1c.848T>A (p.Val283Asp)
c.330T>A
c.947T>A (p.Val316Asp)
c.802-556T>A (n.802-556T>A)
c.*416T>A (n.*416T>A)
c.*640T>A (n.*640T>A)
c.83T>A (p.Val28Asp)
c.539T>A
c.22-594T>A
c.*75T>A (n.*75T>A)
c.515T>A
c.647T>A (p.Val216Asp)
c.335T>A (p.Val112Asp)
Xg.107650022T>CCA413816940PRPS1c.848T>C (p.Val283Ala)
c.330T>C
c.947T>C (p.Val316Ala)
c.802-556T>C (n.802-556T>C)
c.*416T>C (n.*416T>C)
c.*640T>C (n.*640T>C)
c.83T>C (p.Val28Ala)
c.539T>C
c.22-594T>C
c.*75T>C (n.*75T>C)
c.515T>C
c.647T>C (p.Val216Ala)
c.335T>C (p.Val112Ala)
Xg.107650022T>GCA413816941PRPS1c.848T>G (p.Val283Gly)
c.330T>G
c.947T>G (p.Val316Gly)
c.802-556T>G (n.802-556T>G)
c.*416T>G (n.*416T>G)
c.*640T>G (n.*640T>G)
c.83T>G (p.Val28Gly)
c.539T>G
c.22-594T>G
c.*75T>G (n.*75T>G)
c.515T>G
c.647T>G (p.Val216Gly)
c.335T>G (p.Val112Gly)
Xg.107650023C>ACA517921696PRPS1c.849C>A (p.Val283=)
c.331C>A
c.948C>A (p.Val316=)
c.802-555C>A (n.802-555C>A)
c.*417C>A (n.*417C>A)
c.*641C>A (n.*641C>A)
c.84C>A (p.Val28=)
c.540C>A
c.22-593C>A
c.*76C>A (n.*76C>A)
c.516C>A
c.648C>A (p.Val216=)
c.336C>A (p.Val112=)
Xg.107650023C>GCA517921697PRPS1c.849C>G (p.Val283=)
c.331C>G
c.948C>G (p.Val316=)
c.802-555C>G (n.802-555C>G)
c.*417C>G (n.*417C>G)
c.*641C>G (n.*641C>G)
c.84C>G (p.Val28=)
c.540C>G
c.22-593C>G
c.*76C>G (n.*76C>G)
c.516C>G
c.648C>G (p.Val216=)
c.336C>G (p.Val112=)
Xg.107650023C>TCA517921698PRPS1c.849C>T (p.Val283=)
c.331C>T
c.948C>T (p.Val316=)
c.802-555C>T (n.802-555C>T)
c.*417C>T (n.*417C>T)
c.*641C>T (n.*641C>T)
c.84C>T (p.Val28=)
c.540C>T
c.22-593C>T
c.*76C>T (n.*76C>T)
c.516C>T
c.648C>T (p.Val216=)
c.336C>T (p.Val112=)
 ClinVar dbSNP gnomAD v4
Xg.107650024C>ACA413816942PRPS1c.850C>A (p.Pro284Thr)
c.332C>A
c.949C>A (p.Pro317Thr)
c.802-554C>A (n.802-554C>A)
c.*418C>A (n.*418C>A)
c.*642C>A (n.*642C>A)
c.85C>A (p.Pro29Thr)
c.541C>A
c.22-592C>A
c.*77C>A (n.*77C>A)
c.517C>A
c.649C>A (p.Pro217Thr)
c.337C>A (p.Pro113Thr)
Xg.107650024C>GCA413816944PRPS1c.850C>G (p.Pro284Ala)
c.332C>G
c.949C>G (p.Pro317Ala)
c.802-554C>G (n.802-554C>G)
c.*418C>G (n.*418C>G)
c.*642C>G (n.*642C>G)
c.85C>G (p.Pro29Ala)
c.541C>G
c.22-592C>G
c.*77C>G (n.*77C>G)
c.517C>G
c.649C>G (p.Pro217Ala)
c.337C>G (p.Pro113Ala)
Xg.107650024C>TCA413816946PRPS1c.850C>T (p.Pro284Ser)
c.332C>T
c.949C>T (p.Pro317Ser)
c.802-554C>T (n.802-554C>T)
c.*418C>T (n.*418C>T)
c.*642C>T (n.*642C>T)
c.85C>T (p.Pro29Ser)
c.541C>T
c.22-592C>T
c.*77C>T (n.*77C>T)
c.517C>T
c.649C>T (p.Pro217Ser)
c.337C>T (p.Pro113Ser)
Xg.107650025C>ACA413816954PRPS1c.851C>A (p.Pro284His)
c.333C>A
c.950C>A (p.Pro317His)
c.802-553C>A (n.802-553C>A)
c.*419C>A (n.*419C>A)
c.*643C>A (n.*643C>A)
c.86C>A (p.Pro29His)
c.542C>A
c.22-591C>A
c.*78C>A (n.*78C>A)
c.518C>A
c.650C>A (p.Pro217His)
c.338C>A (p.Pro113His)
Xg.107650025C>GCA413816959PRPS1c.851C>G (p.Pro284Arg)
c.333C>G
c.950C>G (p.Pro317Arg)
c.802-553C>G (n.802-553C>G)
c.*419C>G (n.*419C>G)
c.*643C>G (n.*643C>G)
c.86C>G (p.Pro29Arg)
c.542C>G
c.22-591C>G
c.*78C>G (n.*78C>G)
c.518C>G
c.650C>G (p.Pro217Arg)
c.338C>G (p.Pro113Arg)
Xg.107650025C>TCA413816962PRPS1c.851C>T (p.Pro284Leu)
c.333C>T
c.950C>T (p.Pro317Leu)
c.802-553C>T (n.802-553C>T)
c.*419C>T (n.*419C>T)
c.*643C>T (n.*643C>T)
c.86C>T (p.Pro29Leu)
c.542C>T
c.22-591C>T
c.*78C>T (n.*78C>T)
c.518C>T
c.650C>T (p.Pro217Leu)
c.338C>T (p.Pro113Leu)
Xg.107650026T>ACA517921699PRPS1c.852T>A (p.Pro284=)
c.334T>A
c.951T>A (p.Pro317=)
c.802-552T>A (n.802-552T>A)
c.*420T>A (n.*420T>A)
c.*644T>A (n.*644T>A)
c.87T>A (p.Pro29=)
c.543T>A
c.22-590T>A
c.*79T>A (n.*79T>A)
c.519T>A
c.651T>A (p.Pro217=)
c.339T>A (p.Pro113=)
Xg.107650026T>CCA517921700PRPS1c.852T>C (p.Pro284=)
c.334T>C
c.951T>C (p.Pro317=)
c.802-552T>C (n.802-552T>C)
c.*420T>C (n.*420T>C)
c.*644T>C (n.*644T>C)
c.87T>C (p.Pro29=)
c.543T>C
c.22-590T>C
c.*79T>C (n.*79T>C)
c.519T>C
c.651T>C (p.Pro217=)
c.339T>C (p.Pro113=)
Xg.107650026T>GCA517921701PRPS1c.852T>G (p.Pro284=)
c.334T>G
c.951T>G (p.Pro317=)
c.802-552T>G (n.802-552T>G)
c.*420T>G (n.*420T>G)
c.*644T>G (n.*644T>G)
c.87T>G (p.Pro29=)
c.543T>G
c.22-590T>G
c.*79T>G (n.*79T>G)
c.519T>G
c.651T>G (p.Pro217=)
c.339T>G (p.Pro113=)
Xg.107650027T>ACA413816972PRPS1c.853T>A (p.Leu285Ile)
c.335T>A
c.952T>A (p.Leu318Ile)
c.802-551T>A (n.802-551T>A)
c.*421T>A (n.*421T>A)
c.*645T>A (n.*645T>A)
c.88T>A (p.Leu30Ile)
c.544T>A
c.22-589T>A
c.*80T>A (n.*80T>A)
c.520T>A
c.652T>A (p.Leu218Ile)
c.340T>A (p.Leu114Ile)
Xg.107650027T>CCA517921702PRPS1c.853T>C (p.Leu285=)
c.335T>C
c.952T>C (p.Leu318=)
c.802-551T>C (n.802-551T>C)
c.*421T>C (n.*421T>C)
c.*645T>C (n.*645T>C)
c.88T>C (p.Leu30=)
c.544T>C
c.22-589T>C
c.*80T>C (n.*80T>C)
c.520T>C
c.652T>C (p.Leu218=)
c.340T>C (p.Leu114=)
Xg.107650027T>GCA413816990PRPS1c.853T>G (p.Leu285Val)
c.335T>G
c.952T>G (p.Leu318Val)
c.802-551T>G (n.802-551T>G)
c.*421T>G (n.*421T>G)
c.*645T>G (n.*645T>G)
c.88T>G (p.Leu30Val)
c.544T>G
c.22-589T>G
c.*80T>G (n.*80T>G)
c.520T>G
c.652T>G (p.Leu218Val)
c.340T>G (p.Leu114Val)
Xg.107650028T>ACA413817003PRPS1c.854T>A (p.Leu285Ter)
c.336T>A
c.953T>A (p.Leu318Ter)
c.802-550T>A (n.802-550T>A)
c.*422T>A (n.*422T>A)
c.*646T>A (n.*646T>A)
c.89T>A (p.Leu30Ter)
c.545T>A
c.22-588T>A
c.*81T>A (n.*81T>A)
c.521T>A
c.653T>A (p.Leu218Ter)
c.341T>A (p.Leu114Ter)
Xg.107650028T>CCA413817012PRPS1c.854T>C (p.Leu285Ser)
c.336T>C
c.953T>C (p.Leu318Ser)
c.802-550T>C (n.802-550T>C)
c.*422T>C (n.*422T>C)
c.*646T>C (n.*646T>C)
c.89T>C (p.Leu30Ser)
c.545T>C
c.22-588T>C
c.*81T>C (n.*81T>C)
c.521T>C
c.653T>C (p.Leu218Ser)
c.341T>C (p.Leu114Ser)
Xg.107650028T>GCA413817014PRPS1c.854T>G (p.Leu285Ter)
c.336T>G
c.953T>G (p.Leu318Ter)
c.802-550T>G (n.802-550T>G)
c.*422T>G (n.*422T>G)
c.*646T>G (n.*646T>G)
c.89T>G (p.Leu30Ter)
c.545T>G
c.22-588T>G
c.*81T>G (n.*81T>G)
c.521T>G
c.653T>G (p.Leu218Ter)
c.341T>G (p.Leu114Ter)
Xg.107650029A>CCA413817016PRPS1c.855A>C (p.Leu285Phe)
c.337A>C
c.954A>C (p.Leu318Phe)
c.802-549A>C (n.802-549A>C)
c.*423A>C (n.*423A>C)
c.*647A>C (n.*647A>C)
c.90A>C (p.Leu30Phe)
c.546A>C
c.22-587A>C
c.*82A>C (n.*82A>C)
c.522A>C
c.654A>C (p.Leu218Phe)
c.342A>C (p.Leu114Phe)
Xg.107650029A>GCA517921703PRPS1c.855A>G (p.Leu285=)
c.337A>G
c.954A>G (p.Leu318=)
c.802-549A>G (n.802-549A>G)
c.*423A>G (n.*423A>G)
c.*647A>G (n.*647A>G)
c.90A>G (p.Leu30=)
c.546A>G
c.22-587A>G
c.*82A>G (n.*82A>G)
c.522A>G
c.654A>G (p.Leu218=)
c.342A>G (p.Leu114=)
Xg.107650029A>TCA413817046PRPS1c.855A>T (p.Leu285Phe)
c.337A>T
c.954A>T (p.Leu318Phe)
c.802-549A>T (n.802-549A>T)
c.*423A>T (n.*423A>T)
c.*647A>T (n.*647A>T)
c.90A>T (p.Leu30Phe)
c.546A>T
c.22-587A>T
c.*82A>T (n.*82A>T)
c.522A>T
c.654A>T (p.Leu218Phe)
c.342A>T (p.Leu114Phe)
Xg.107650030T>ACA413817063PRPS1c.856T>A (p.Ter286Lys)
c.338T>A
c.955T>A (p.Ter319Lys)
c.802-548T>A (n.802-548T>A)
c.*424T>A (n.*424T>A)
c.*648T>A (n.*648T>A)
c.91T>A (p.Ter31Lys)
c.547T>A
c.22-586T>A
c.*83T>A (n.*83T>A)
c.523T>A
c.655T>A (p.Ter219Lys)
c.343T>A (p.Ter115Lys)
Xg.107650030T>CCA413817068PRPS1c.856T>C (p.Ter286Gln)
c.338T>C
c.955T>C (p.Ter319Gln)
c.802-548T>C (n.802-548T>C)
c.*424T>C (n.*424T>C)
c.*648T>C (n.*648T>C)
c.91T>C (p.Ter31Gln)
c.547T>C
c.22-586T>C
c.*83T>C (n.*83T>C)
c.523T>C
c.655T>C (p.Ter219Gln)
c.343T>C (p.Ter115Gln)
Xg.107650030T>GCA413817075PRPS1c.856T>G (p.Ter286Glu)
c.338T>G
c.955T>G (p.Ter319Glu)
c.802-548T>G (n.802-548T>G)
c.*424T>G (n.*424T>G)
c.*648T>G (n.*648T>G)
c.91T>G (p.Ter31Glu)
c.547T>G
c.22-586T>G
c.*83T>G (n.*83T>G)
c.523T>G
c.655T>G (p.Ter219Glu)
c.343T>G (p.Ter115Glu)
Xg.107650031A>CCA413817087PRPS1c.857A>C (p.Ter286Ser)
c.339A>C
c.956A>C (p.Ter319Ser)
c.802-547A>C (n.802-547A>C)
c.*425A>C (n.*425A>C)
c.*649A>C (n.*649A>C)
c.92A>C (p.Ter31Ser)
c.548A>C
c.22-585A>C
c.*84A>C (n.*84A>C)
c.524A>C
c.656A>C (p.Ter219Ser)
c.344A>C (p.Ter115Ser)
Xg.107650031A>GCA517921704PRPS1c.857A>G (p.Ter286=)
c.339A>G
c.956A>G (p.Ter319=)
c.802-547A>G (n.802-547A>G)
c.*425A>G (n.*425A>G)
c.*649A>G (n.*649A>G)
c.92A>G (p.Ter31=)
c.548A>G
c.22-585A>G
c.*84A>G (n.*84A>G)
c.524A>G
c.656A>G (p.Ter219=)
c.344A>G (p.Ter115=)
Xg.107650031A>TCA413817094PRPS1c.857A>T (p.Ter286Leu)
c.339A>T
c.956A>T (p.Ter319Leu)
c.802-547A>T (n.802-547A>T)
c.*425A>T (n.*425A>T)
c.*649A>T (n.*649A>T)
c.92A>T (p.Ter31Leu)
c.548A>T
c.22-585A>T
c.*84A>T (n.*84A>T)
c.524A>T
c.656A>T (p.Ter219Leu)
c.344A>T (p.Ter115Leu)
Xg.107650032A>CCA413817110PRPS1c.858A>C (p.Ter286Tyr)
c.340A>C
c.957A>C (p.Ter319Tyr)
c.802-546A>C (n.802-546A>C)
c.*426A>C (n.*426A>C)
c.*650A>C (n.*650A>C)
c.93A>C (p.Ter31Tyr)
c.549A>C
c.22-584A>C
c.*85A>C (n.*85A>C)
c.525A>C
c.657A>C (p.Ter219Tyr)
c.345A>C (p.Ter115Tyr)
Xg.107650032A>GCA517921705PRPS1c.858A>G (p.Ter286=)
c.340A>G
c.957A>G (p.Ter319=)
c.802-546A>G (n.802-546A>G)
c.*426A>G (n.*426A>G)
c.*650A>G (n.*650A>G)
c.93A>G (p.Ter31=)
c.549A>G
c.22-584A>G
c.*85A>G (n.*85A>G)
c.525A>G
c.657A>G (p.Ter219=)
c.345A>G (p.Ter115=)
Xg.107650032A>TCA413817116PRPS1c.858A>T (p.Ter286Tyr)
c.340A>T
c.957A>T (p.Ter319Tyr)
c.802-546A>T (n.802-546A>T)
c.*426A>T (n.*426A>T)
c.*650A>T (n.*650A>T)
c.93A>T (p.Ter31Tyr)
c.549A>T
c.22-584A>T
c.*85A>T (n.*85A>T)
c.525A>T
c.657A>T (p.Ter219Tyr)
c.345A>T (p.Ter115Tyr)
Xg.107650033T>CCA643628772PRPS1c.*1T>C (n.*1T>C)
c.341T>C
c.802-545T>C (n.802-545T>C)
c.*427T>C (n.*427T>C)
c.*651T>C (n.*651T>C)
c.94T>C (n.94T>C)
c.22-583T>C
c.*86T>C (n.*86T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.107650033T=CA2450376217PRPS1c.*1T= (n.*1T=)
c.341T=
c.802-545T= (n.802-545T=)
c.*427T= (n.*427T=)
c.*651T= (n.*651T=)
c.94T= (n.94T=)
c.22-583T=
c.*86T= (n.*86T=)
Xg.107650035_107650039dupCA2694407769PRPS1c.*3_*7dup (n.*3_*7dup)
c.343_347dup
c.802-543_802-539dup (n.802-543_802-539dup)
c.*429_*433dup (n.*429_*433dup)
c.*653_*657dup (n.*653_*657dup)
c.96_100dup (n.96_100dup)
c.22-581_22-577dup
c.*88_*92dup (n.*88_*92dup)
 gnomAD v4
Xg.107650034A>CCA2694407770PRPS1c.*2A>C (n.*2A>C)
c.342A>C
c.802-544A>C (n.802-544A>C)
c.*428A>C (n.*428A>C)
c.*652A>C (n.*652A>C)
c.95A>C (n.95A>C)
c.22-582A>C
c.*87A>C (n.*87A>C)
 gnomAD v4
Xg.107650034dupCA2579673173PRPS1c.*2dup (n.*2dup)
c.342dup
c.802-544dup (n.802-544dup)
c.*428dup (n.*428dup)
c.*652dup (n.*652dup)
c.95dup (n.95dup)
c.22-582dup
c.*87dup (n.*87dup)
 gnomAD v4
Xg.107650035G>ACA2694407771PRPS1c.*3G>A (n.*3G>A)
c.343G>A
c.802-543G>A (n.802-543G>A)
c.*429G>A (n.*429G>A)
c.*653G>A (n.*653G>A)
c.96G>A (n.96G>A)
c.22-581G>A
c.*88G>A (n.*88G>A)
 gnomAD v4
Xg.107650035G>CCA2509766764PRPS1c.*3G>C (n.*3G>C)
c.343G>C
c.802-543G>C (n.802-543G>C)
c.*429G>C (n.*429G>C)
c.*653G>C (n.*653G>C)
c.96G>C (n.96G>C)
c.22-581G>C
c.*88G>C (n.*88G>C)
Xg.107650037G>ACA2529169450PRPS1c.*5G>A (n.*5G>A)
c.345G>A
c.802-541G>A (n.802-541G>A)
c.*431G>A (n.*431G>A)
c.*655G>A (n.*655G>A)
c.98G>A (n.98G>A)
c.22-579G>A
c.*90G>A (n.*90G>A)

Number of alleles fetched