Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.81934386T>ACA401537053PYCR1c.737A>T (p.Glu246Val)
c.818A>T (p.Glu273Val)
c.644A>T (p.Glu215Val)
c.633+267A>T (n.633+267A>T)
c.647A>T (p.Glu216Val)
c.501+540A>T (n.501+540A>T)
c.714+267A>T (n.714+267A>T)
17g.81934386T>CCA401537054PYCR1c.737A>G (p.Glu246Gly)
c.818A>G (p.Glu273Gly)
c.644A>G (p.Glu215Gly)
c.633+267A>G (n.633+267A>G)
c.647A>G (p.Glu216Gly)
c.501+540A>G (n.501+540A>G)
c.714+267A>G (n.714+267A>G)
17g.81934386T>GCA401537052PYCR1c.737A>C (p.Glu246Ala)
c.818A>C (p.Glu273Ala)
c.644A>C (p.Glu215Ala)
c.633+267A>C (n.633+267A>C)
c.647A>C (p.Glu216Ala)
c.501+540A>C (n.501+540A>C)
c.714+267A>C (n.714+267A>C)
17g.81934387C>ACA401537055PYCR1c.736G>T (p.Glu246Ter)
c.817G>T (p.Glu273Ter)
c.643G>T (p.Glu215Ter)
c.633+266G>T (n.633+266G>T)
c.646G>T (p.Glu216Ter)
c.501+539G>T (n.501+539G>T)
c.714+266G>T (n.714+266G>T)
17g.81934387C>GCA401537056PYCR1c.736G>C (p.Glu246Gln)
c.817G>C (p.Glu273Gln)
c.643G>C (p.Glu215Gln)
c.633+266G>C (n.633+266G>C)
c.646G>C (p.Glu216Gln)
c.501+539G>C (n.501+539G>C)
c.714+266G>C (n.714+266G>C)
17g.81934387C>TCA401537057PYCR1c.736G>A (p.Glu246Lys)
c.817G>A (p.Glu273Lys)
c.643G>A (p.Glu215Lys)
c.633+266G>A (n.633+266G>A)
c.646G>A (p.Glu216Lys)
c.501+539G>A (n.501+539G>A)
c.714+266G>A (n.714+266G>A)
17g.81934388C>ACA502335869PYCR1c.735G>T (p.Leu245=)
c.816G>T (p.Leu272=)
c.642G>T (p.Leu214=)
c.633+265G>T (n.633+265G>T)
c.645G>T (p.Leu215=)
c.501+538G>T (n.501+538G>T)
c.714+265G>T (n.714+265G>T)
17g.81934388C=CA2278749471PYCR1c.735G= (p.Leu245=)
c.816G= (p.Leu272=)
c.642G= (p.Leu214=)
c.633+265G= (n.633+265G=)
c.645G= (p.Leu215=)
c.501+538G= (n.501+538G=)
c.714+265G= (n.714+265G=)
17g.81934388C>GCA502335867PYCR1c.735G>C (p.Leu245=)
c.816G>C (p.Leu272=)
c.642G>C (p.Leu214=)
c.633+265G>C (n.633+265G>C)
c.645G>C (p.Leu215=)
c.501+538G>C (n.501+538G>C)
c.714+265G>C (n.714+265G>C)
17g.81934388C>TCA8845330PYCR1c.735G>A (p.Leu245=)
c.816G>A (p.Leu272=)
c.642G>A (p.Leu214=)
c.633+265G>A (n.633+265G>A)
c.645G>A (p.Leu215=)
c.501+538G>A (n.501+538G>A)
c.714+265G>A (n.714+265G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934389A>CCA401537058PYCR1c.734T>G (p.Leu245Arg)
c.815T>G (p.Leu272Arg)
c.641T>G (p.Leu214Arg)
c.633+264T>G (n.633+264T>G)
c.644T>G (p.Leu215Arg)
c.501+537T>G (n.501+537T>G)
c.714+264T>G (n.714+264T>G)
17g.81934389A>GCA401537059PYCR1c.734T>C (p.Leu245Pro)
c.815T>C (p.Leu272Pro)
c.641T>C (p.Leu214Pro)
c.633+264T>C (n.633+264T>C)
c.644T>C (p.Leu215Pro)
c.501+537T>C (n.501+537T>C)
c.714+264T>C (n.714+264T>C)
17g.81934389A>TCA401537060PYCR1c.734T>A (p.Leu245Gln)
c.815T>A (p.Leu272Gln)
c.641T>A (p.Leu214Gln)
c.633+264T>A (n.633+264T>A)
c.644T>A (p.Leu215Gln)
c.501+537T>A (n.501+537T>A)
c.714+264T>A (n.714+264T>A)
17g.81934390G>ACA502335876PYCR1c.733C>T (p.Leu245=)
c.814C>T (p.Leu272=)
c.640C>T (p.Leu214=)
c.633+263C>T (n.633+263C>T)
c.643C>T (p.Leu215=)
c.501+536C>T (n.501+536C>T)
c.714+263C>T (n.714+263C>T)
 gnomAD v4
17g.81934390G>CCA401537061PYCR1c.733C>G (p.Leu245Val)
c.814C>G (p.Leu272Val)
c.640C>G (p.Leu214Val)
c.633+263C>G (n.633+263C>G)
c.643C>G (p.Leu215Val)
c.501+536C>G (n.501+536C>G)
c.714+263C>G (n.714+263C>G)
17g.81934390G>TCA401537062PYCR1c.733C>A (p.Leu245Met)
c.814C>A (p.Leu272Met)
c.640C>A (p.Leu214Met)
c.633+263C>A (n.633+263C>A)
c.643C>A (p.Leu215Met)
c.501+536C>A (n.501+536C>A)
c.714+263C>A (n.714+263C>A)
17g.81934391C>ACA502335884PYCR1c.732G>T (p.Val244=)
c.813G>T (p.Val271=)
c.639G>T (p.Val213=)
c.633+262G>T (n.633+262G>T)
c.642G>T (p.Val214=)
c.501+535G>T (n.501+535G>T)
c.714+262G>T (n.714+262G>T)
17g.81934391C=CA2278749472PYCR1c.732G= (p.Val244=)
c.813G= (p.Val271=)
c.639G= (p.Val213=)
c.633+262G= (n.633+262G=)
c.642G= (p.Val214=)
c.501+535G= (n.501+535G=)
c.714+262G= (n.714+262G=)
17g.81934391C>GCA502335885PYCR1c.732G>C (p.Val244=)
c.813G>C (p.Val271=)
c.639G>C (p.Val213=)
c.633+262G>C (n.633+262G>C)
c.642G>C (p.Val214=)
c.501+535G>C (n.501+535G>C)
c.714+262G>C (n.714+262G>C)
17g.81934391C>TCA8845331PYCR1c.732G>A (p.Val244=)
c.813G>A (p.Val271=)
c.639G>A (p.Val213=)
c.633+262G>A (n.633+262G>A)
c.642G>A (p.Val214=)
c.501+535G>A (n.501+535G>A)
c.714+262G>A (n.714+262G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81934392A=CA2278749473PYCR1c.731T= (p.Val244=)
c.812T= (p.Val271=)
c.638T= (p.Val213=)
c.633+261T= (n.633+261T=)
c.641T= (p.Val214=)
c.501+534T= (n.501+534T=)
c.714+261T= (n.714+261T=)
17g.81934392A>CCA401537063PYCR1c.731T>G (p.Val244Gly)
c.812T>G (p.Val271Gly)
c.638T>G (p.Val213Gly)
c.633+261T>G (n.633+261T>G)
c.641T>G (p.Val214Gly)
c.501+534T>G (n.501+534T>G)
c.714+261T>G (n.714+261T>G)
 dbSNP gnomAD v2 gnomAD v4
17g.81934392A>GCA401537064PYCR1c.731T>C (p.Val244Ala)
c.812T>C (p.Val271Ala)
c.638T>C (p.Val213Ala)
c.633+261T>C (n.633+261T>C)
c.641T>C (p.Val214Ala)
c.501+534T>C (n.501+534T>C)
c.714+261T>C (n.714+261T>C)
 ClinVar dbSNP
17g.81934392A>TCA401537065PYCR1c.731T>A (p.Val244Glu)
c.812T>A (p.Val271Glu)
c.638T>A (p.Val213Glu)
c.633+261T>A (n.633+261T>A)
c.641T>A (p.Val214Glu)
c.501+534T>A (n.501+534T>A)
c.714+261T>A (n.714+261T>A)
17g.81934393C>ACA401537068PYCR1c.730G>T (p.Val244Leu)
c.811G>T (p.Val271Leu)
c.637G>T (p.Val213Leu)
c.633+260G>T (n.633+260G>T)
c.640G>T (p.Val214Leu)
c.501+533G>T (n.501+533G>T)
c.714+260G>T (n.714+260G>T)
17g.81934393C=CA2278749474PYCR1c.730G= (p.Val244=)
c.811G= (p.Val271=)
c.637G= (p.Val213=)
c.633+260G= (n.633+260G=)
c.640G= (p.Val214=)
c.501+533G= (n.501+533G=)
c.714+260G= (n.714+260G=)
17g.81934393C>GCA401537067PYCR1c.730G>C (p.Val244Leu)
c.811G>C (p.Val271Leu)
c.637G>C (p.Val213Leu)
c.633+260G>C (n.633+260G>C)
c.640G>C (p.Val214Leu)
c.501+533G>C (n.501+533G>C)
c.714+260G>C (n.714+260G>C)
17g.81934393C>TCA401537066PYCR1c.730G>A (p.Val244Met)
c.811G>A (p.Val271Met)
c.637G>A (p.Val213Met)
c.633+260G>A (n.633+260G>A)
c.640G>A (p.Val214Met)
c.501+533G>A (n.501+533G>A)
c.714+260G>A (n.714+260G>A)
 dbSNP
17g.81934394A=CA2278749475PYCR1c.729T= (p.His243=)
c.810T= (p.His270=)
c.636T= (p.His212=)
c.633+259T= (n.633+259T=)
c.639T= (p.His213=)
c.501+532T= (n.501+532T=)
c.714+259T= (n.714+259T=)
17g.81934394A>CCA401537069PYCR1c.729T>G (p.His243Gln)
c.810T>G (p.His270Gln)
c.636T>G (p.His212Gln)
c.633+259T>G (n.633+259T>G)
c.639T>G (p.His213Gln)
c.501+532T>G (n.501+532T>G)
c.714+259T>G (n.714+259T>G)
17g.81934394A>GCA295135179PYCR1c.729T>C (p.His243=)
c.810T>C (p.His270=)
c.636T>C (p.His212=)
c.633+259T>C (n.633+259T>C)
c.639T>C (p.His213=)
c.501+532T>C (n.501+532T>C)
c.714+259T>C (n.714+259T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.81934394A>TCA401537070PYCR1c.729T>A (p.His243Gln)
c.810T>A (p.His270Gln)
c.636T>A (p.His212Gln)
c.633+259T>A (n.633+259T>A)
c.639T>A (p.His213Gln)
c.501+532T>A (n.501+532T>A)
c.714+259T>A (n.714+259T>A)
17g.81934395T>ACA401537071PYCR1c.728A>T (p.His243Leu)
c.809A>T (p.His270Leu)
c.635A>T (p.His212Leu)
c.633+258A>T (n.633+258A>T)
c.638A>T (p.His213Leu)
c.501+531A>T (n.501+531A>T)
c.714+258A>T (n.714+258A>T)
17g.81934395T>CCA401537072PYCR1c.728A>G (p.His243Arg)
c.809A>G (p.His270Arg)
c.635A>G (p.His212Arg)
c.633+258A>G (n.633+258A>G)
c.638A>G (p.His213Arg)
c.501+531A>G (n.501+531A>G)
c.714+258A>G (n.714+258A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.81934395T>GCA401537073PYCR1c.728A>C (p.His243Pro)
c.809A>C (p.His270Pro)
c.635A>C (p.His212Pro)
c.633+258A>C (n.633+258A>C)
c.638A>C (p.His213Pro)
c.501+531A>C (n.501+531A>C)
c.714+258A>C (n.714+258A>C)
17g.81934395T=CA2278749476PYCR1c.728A= (p.His243=)
c.809A= (p.His270=)
c.635A= (p.His212=)
c.633+258A= (n.633+258A=)
c.638A= (p.His213=)
c.501+531A= (n.501+531A=)
c.714+258A= (n.714+258A=)
17g.81934396G>ACA401537074PYCR1c.727C>T (p.His243Tyr)
c.808C>T (p.His270Tyr)
c.634C>T (p.His212Tyr)
c.633+257C>T (n.633+257C>T)
c.637C>T (p.His213Tyr)
c.501+530C>T (n.501+530C>T)
c.714+257C>T (n.714+257C>T)
 gnomAD v4
17g.81934396G>CCA401537075PYCR1c.727C>G (p.His243Asp)
c.808C>G (p.His270Asp)
c.634C>G (p.His212Asp)
c.633+257C>G (n.633+257C>G)
c.637C>G (p.His213Asp)
c.501+530C>G (n.501+530C>G)
c.714+257C>G (n.714+257C>G)
17g.81934396G=CA2278749477PYCR1c.727C= (p.His243=)
c.808C= (p.His270=)
c.634C= (p.His212=)
c.633+257C= (n.633+257C=)
c.637C= (p.His213=)
c.501+530C= (n.501+530C=)
c.714+257C= (n.714+257C=)
17g.81934396G>TCA401537076PYCR1c.727C>A (p.His243Asn)
c.808C>A (p.His270Asn)
c.634C>A (p.His212Asn)
c.633+257C>A (n.633+257C>A)
c.637C>A (p.His213Asn)
c.501+530C>A (n.501+530C>A)
c.714+257C>A (n.714+257C>A)
 dbSNP
17g.81934397C>ACA401537077PYCR1c.726G>T (p.Leu242Phe)
c.807G>T (p.Leu269Phe)
c.633G>T (p.Leu211Phe)
c.633+256G>T (n.633+256G>T)
c.636G>T (p.Leu212Phe)
c.501+529G>T (n.501+529G>T)
c.714+256G>T (n.714+256G>T)
17g.81934397C=CA2278749478PYCR1c.726G= (p.Leu242=)
c.807G= (p.Leu269=)
c.633G= (p.Leu211=)
c.633+256G= (n.633+256G=)
c.636G= (p.Leu212=)
c.501+529G= (n.501+529G=)
c.714+256G= (n.714+256G=)
17g.81934397C>GCA8845332PYCR1c.726G>C (p.Leu242Phe)
c.807G>C (p.Leu269Phe)
c.633G>C (p.Leu211Phe)
c.633+256G>C (n.633+256G>C)
c.636G>C (p.Leu212Phe)
c.501+529G>C (n.501+529G>C)
c.714+256G>C (n.714+256G>C)
 dbSNP ExAC gnomAD v4
17g.81934397C>TCA502335915PYCR1c.726G>A (p.Leu242=)
c.807G>A (p.Leu269=)
c.633G>A (p.Leu211=)
c.633+256G>A (n.633+256G>A)
c.636G>A (p.Leu212=)
c.501+529G>A (n.501+529G>A)
c.714+256G>A (n.714+256G>A)
 gnomAD v4
17g.81934398A>CCA401537078PYCR1c.725T>G (p.Leu242Trp)
c.806T>G (p.Leu269Trp)
c.632T>G (p.Leu211Trp)
c.633+255T>G (n.633+255T>G)
c.635T>G (p.Leu212Trp)
c.501+528T>G (n.501+528T>G)
c.714+255T>G (n.714+255T>G)
17g.81934398A>GCA401537079PYCR1c.725T>C (p.Leu242Ser)
c.806T>C (p.Leu269Ser)
c.632T>C (p.Leu211Ser)
c.633+255T>C (n.633+255T>C)
c.635T>C (p.Leu212Ser)
c.501+528T>C (n.501+528T>C)
c.714+255T>C (n.714+255T>C)
 gnomAD v4
17g.81934398A>TCA401537080PYCR1c.725T>A (p.Leu242Ter)
c.806T>A (p.Leu269Ter)
c.632T>A (p.Leu211Ter)
c.633+255T>A (n.633+255T>A)
c.635T>A (p.Leu212Ter)
c.501+528T>A (n.501+528T>A)
c.714+255T>A (n.714+255T>A)
17g.81934399A>CCA401537081PYCR1c.724T>G (p.Leu242Val)
c.805T>G (p.Leu269Val)
c.631T>G (p.Leu211Val)
c.633+254T>G (n.633+254T>G)
c.634T>G (p.Leu212Val)
c.501+527T>G (n.501+527T>G)
c.714+254T>G (n.714+254T>G)
17g.81934399A>GCA502335919PYCR1c.724T>C (p.Leu242=)
c.805T>C (p.Leu269=)
c.631T>C (p.Leu211=)
c.633+254T>C (n.633+254T>C)
c.634T>C (p.Leu212=)
c.501+527T>C (n.501+527T>C)
c.714+254T>C (n.714+254T>C)
17g.81934399A>TCA401537082PYCR1c.724T>A (p.Leu242Met)
c.805T>A (p.Leu269Met)
c.631T>A (p.Leu211Met)
c.633+254T>A (n.633+254T>A)
c.634T>A (p.Leu212Met)
c.501+527T>A (n.501+527T>A)
c.714+254T>A (n.714+254T>A)

Number of alleles fetched