Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.45293221G>ACA10284489UPK3Ac.612G>A (p.Arg204=)
c.249G>A (p.Arg83=)
c.618G>A (p.Arg206=)
c.255G>A (p.Arg85=)
 dbSNP ExAC gnomAD v2
22g.45293221G>CCA514882703UPK3Ac.612G>C (p.Arg204=)
c.249G>C (p.Arg83=)
c.618G>C (p.Arg206=)
c.255G>C (p.Arg85=)
22g.45293221G=CA2408185398UPK3Ac.612G= (p.Arg204=)
c.249G= (p.Arg83=)
c.618G= (p.Arg206=)
c.255G= (p.Arg85=)
22g.45293221G>TCA514882704UPK3Ac.612G>T (p.Arg204=)
c.249G>T (p.Arg83=)
c.618G>T (p.Arg206=)
c.255G>T (p.Arg85=)
22g.45293222A>CCA411879164UPK3Ac.613A>C (p.Ser205Arg)
c.250A>C (p.Ser84Arg)
c.619A>C (p.Ser207Arg)
c.256A>C (p.Ser86Arg)
22g.45293222A>GCA411879167UPK3Ac.613A>G (p.Ser205Gly)
c.250A>G (p.Ser84Gly)
c.619A>G (p.Ser207Gly)
c.256A>G (p.Ser86Gly)
 gnomAD v4
22g.45293222A>TCA411879169UPK3Ac.613A>T (p.Ser205Cys)
c.250A>T (p.Ser84Cys)
c.619A>T (p.Ser207Cys)
c.256A>T (p.Ser86Cys)
22g.45293223G>ACA411879173UPK3Ac.614G>A (p.Ser205Asn)
c.251G>A (p.Ser84Asn)
c.620G>A (p.Ser207Asn)
c.257G>A (p.Ser86Asn)
22g.45293223G>CCA411879175UPK3Ac.614G>C (p.Ser205Thr)
c.251G>C (p.Ser84Thr)
c.620G>C (p.Ser207Thr)
c.257G>C (p.Ser86Thr)
22g.45293223G=CA2408185399UPK3Ac.614G= (p.Ser205=)
c.251G= (p.Ser84=)
c.620G= (p.Ser207=)
c.257G= (p.Ser86=)
22g.45293223G>TCA411879179UPK3Ac.614G>T (p.Ser205Ile)
c.251G>T (p.Ser84Ile)
c.620G>T (p.Ser207Ile)
c.257G>T (p.Ser86Ile)
 dbSNP gnomAD v3 gnomAD v4
22g.45293223_45293251delinsGCGGAGGCATGATCGTCATCACTTCCATCCA2408185400UPK3Ac.614_642delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser205=)
c.251_279delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser84=)
c.620_648delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser207=)
c.257_285delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser86=)
22g.45293224C>ACA411879182UPK3Ac.615C>A (p.Ser205Arg)
c.252C>A (p.Ser84Arg)
c.621C>A (p.Ser207Arg)
c.258C>A (p.Ser86Arg)
22g.45293224C=CA2408185402UPK3Ac.615C= (p.Ser205=)
c.252C= (p.Ser84=)
c.621C= (p.Ser207=)
c.258C= (p.Ser86=)
22g.45293224C>GCA411879184UPK3Ac.615C>G (p.Ser205Arg)
c.252C>G (p.Ser84Arg)
c.621C>G (p.Ser207Arg)
c.258C>G (p.Ser86Arg)
22g.45293224C>TCA10284490UPK3Ac.615C>T (p.Ser205=)
c.252C>T (p.Ser84=)
c.621C>T (p.Ser207=)
c.258C>T (p.Ser86=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.45293224_45293231delCA1026219332UPK3Ac.615_622del (p.Gly206AspfsTer?)
c.252_259del (p.Gly85AspfsTer?)
c.621_628del (p.Gly208AspfsTer?)
c.258_265del (p.Gly87AspfsTer?)
 gnomAD v3 gnomAD v4
22g.45293225_45293252delCA2408185401UPK3Ac.616_643del (p.Gly206TrpfsTer?)
c.253_280del (p.Gly85TrpfsTer?)
c.622_649del (p.Gly208TrpfsTer?)
c.259_286del (p.Gly87TrpfsTer?)
 dbSNP
22g.45293225G>ACA10284491UPK3Ac.616G>A (p.Gly206Arg)
c.253G>A (p.Gly85Arg)
c.622G>A (p.Gly208Arg)
c.259G>A (p.Gly87Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.45293225G>CCA411879189UPK3Ac.616G>C (p.Gly206Arg)
c.253G>C (p.Gly85Arg)
c.622G>C (p.Gly208Arg)
c.259G>C (p.Gly87Arg)
22g.45293225G=CA2408185403UPK3Ac.616G= (p.Gly206=)
c.253G= (p.Gly85=)
c.622G= (p.Gly208=)
c.259G= (p.Gly87=)
22g.45293225G>TCA411879191UPK3Ac.616G>T (p.Gly206Ter)
c.253G>T (p.Gly85Ter)
c.622G>T (p.Gly208Ter)
c.259G>T (p.Gly87Ter)
22g.45293226G>ACA411879195UPK3Ac.617G>A (p.Gly206Glu)
c.254G>A (p.Gly85Glu)
c.623G>A (p.Gly208Glu)
c.260G>A (p.Gly87Glu)
22g.45293226G>CCA411879198UPK3Ac.617G>C (p.Gly206Ala)
c.254G>C (p.Gly85Ala)
c.623G>C (p.Gly208Ala)
c.260G>C (p.Gly87Ala)
22g.45293226G=CA2408185404UPK3Ac.617G= (p.Gly206=)
c.254G= (p.Gly85=)
c.623G= (p.Gly208=)
c.260G= (p.Gly87=)
22g.45293226G>TCA10284492UPK3Ac.617G>T (p.Gly206Val)
c.254G>T (p.Gly85Val)
c.623G>T (p.Gly208Val)
c.260G>T (p.Gly87Val)
 dbSNP ExAC gnomAD v2
22g.45293227A>CCA514882706UPK3Ac.618A>C (p.Gly206=)
c.255A>C (p.Gly85=)
c.624A>C (p.Gly208=)
c.261A>C (p.Gly87=)
22g.45293227A>GCA514882707UPK3Ac.618A>G (p.Gly206=)
c.255A>G (p.Gly85=)
c.624A>G (p.Gly208=)
c.261A>G (p.Gly87=)
 gnomAD v4
22g.45293227A>TCA514882709UPK3Ac.618A>T (p.Gly206=)
c.255A>T (p.Gly85=)
c.624A>T (p.Gly208=)
c.261A>T (p.Gly87=)
22g.45293228G>ACA411879201UPK3Ac.619G>A (p.Gly207Ser)
c.256G>A (p.Gly86Ser)
c.625G>A (p.Gly209Ser)
c.262G>A (p.Gly88Ser)
 gnomAD v4
22g.45293228G>CCA411879203UPK3Ac.619G>C (p.Gly207Arg)
c.256G>C (p.Gly86Arg)
c.625G>C (p.Gly209Arg)
c.262G>C (p.Gly88Arg)
22g.45293228G>TCA411879205UPK3Ac.619G>T (p.Gly207Cys)
c.256G>T (p.Gly86Cys)
c.625G>T (p.Gly209Cys)
c.262G>T (p.Gly88Cys)
22g.45293229G>ACA325067327UPK3Ac.620G>A (p.Gly207Asp)
c.257G>A (p.Gly86Asp)
c.626G>A (p.Gly209Asp)
c.263G>A (p.Gly88Asp)
 dbSNP
22g.45293229G>CCA411879209UPK3Ac.620G>C (p.Gly207Ala)
c.257G>C (p.Gly86Ala)
c.626G>C (p.Gly209Ala)
c.263G>C (p.Gly88Ala)
22g.45293229G=CA2408185405UPK3Ac.620G= (p.Gly207=)
c.257G= (p.Gly86=)
c.626G= (p.Gly209=)
c.263G= (p.Gly88=)
22g.45293229G>TCA411879212UPK3Ac.620G>T (p.Gly207Val)
c.257G>T (p.Gly86Val)
c.626G>T (p.Gly209Val)
c.263G>T (p.Gly88Val)
22g.45293230C>ACA514882710UPK3Ac.621C>A (p.Gly207=)
c.258C>A (p.Gly86=)
c.627C>A (p.Gly209=)
c.264C>A (p.Gly88=)
22g.45293230C>GCA514882711UPK3Ac.621C>G (p.Gly207=)
c.258C>G (p.Gly86=)
c.627C>G (p.Gly209=)
c.264C>G (p.Gly88=)
22g.45293230C>TCA514882713UPK3Ac.621C>T (p.Gly207=)
c.258C>T (p.Gly86=)
c.627C>T (p.Gly209=)
c.264C>T (p.Gly88=)
 gnomAD v4
22g.45293231A=CA2408185406UPK3Ac.622A= (p.Met208=)
c.259A= (p.Met87=)
c.628A= (p.Met210=)
c.265A= (p.Met89=)
22g.45293231A>CCA325067330UPK3Ac.622A>C (p.Met208Leu)
c.259A>C (p.Met87Leu)
c.628A>C (p.Met210Leu)
c.265A>C (p.Met89Leu)
 dbSNP gnomAD v4
22g.45293231A>GCA10284493UPK3Ac.622A>G (p.Met208Val)
c.259A>G (p.Met87Val)
c.628A>G (p.Met210Val)
c.265A>G (p.Met89Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.45293231A>TCA411879217UPK3Ac.622A>T (p.Met208Leu)
c.259A>T (p.Met87Leu)
c.628A>T (p.Met210Leu)
c.265A>T (p.Met89Leu)
22g.45293232T>ACA411879221UPK3Ac.623T>A (p.Met208Lys)
c.260T>A (p.Met87Lys)
c.629T>A (p.Met210Lys)
c.266T>A (p.Met89Lys)
22g.45293232T>CCA411879224UPK3Ac.623T>C (p.Met208Thr)
c.260T>C (p.Met87Thr)
c.629T>C (p.Met210Thr)
c.266T>C (p.Met89Thr)
 dbSNP
22g.45293232T>GCA411879227UPK3Ac.623T>G (p.Met208Arg)
c.260T>G (p.Met87Arg)
c.629T>G (p.Met210Arg)
c.266T>G (p.Met89Arg)
22g.45293232T=CA2408185407UPK3Ac.623T= (p.Met208=)
c.260T= (p.Met87=)
c.629T= (p.Met210=)
c.266T= (p.Met89=)
22g.45293233G>ACA411879229UPK3Ac.624G>A (p.Met208Ile)
c.261G>A (p.Met87Ile)
c.630G>A (p.Met210Ile)
c.267G>A (p.Met89Ile)
22g.45293233G>CCA411879231UPK3Ac.624G>C (p.Met208Ile)
c.261G>C (p.Met87Ile)
c.630G>C (p.Met210Ile)
c.267G>C (p.Met89Ile)
22g.45293233G>TCA411879233UPK3Ac.624G>T (p.Met208Ile)
c.261G>T (p.Met87Ile)
c.630G>T (p.Met210Ile)
c.267G>T (p.Met89Ile)
22g.45293233_45293252delCA1026219336UPK3Ac.624_643del (p.Met208IlefsTer27)
c.261_280del (p.Met87IlefsTer27)
c.630_649del (p.Met210IlefsTer27)
c.267_286del (p.Met89IlefsTer27)
 gnomAD v3 gnomAD v4
22g.45293234A>CCA411879239UPK3Ac.625A>C (p.Ile209Leu)
c.262A>C (p.Ile88Leu)
c.631A>C (p.Ile211Leu)
c.268A>C (p.Ile90Leu)
22g.45293234A>GCA411879240UPK3Ac.625A>G (p.Ile209Val)
c.262A>G (p.Ile88Val)
c.631A>G (p.Ile211Val)
c.268A>G (p.Ile90Val)
22g.45293234A>TCA411879236UPK3Ac.625A>T (p.Ile209Phe)
c.262A>T (p.Ile88Phe)
c.631A>T (p.Ile211Phe)
c.268A>T (p.Ile90Phe)
 gnomAD v4
22g.45293235T>ACA411879246UPK3Ac.626T>A (p.Ile209Asn)
c.263T>A (p.Ile88Asn)
c.632T>A (p.Ile211Asn)
c.269T>A (p.Ile90Asn)
22g.45293235T>CCA411879243UPK3Ac.626T>C (p.Ile209Thr)
c.263T>C (p.Ile88Thr)
c.632T>C (p.Ile211Thr)
c.269T>C (p.Ile90Thr)
 gnomAD v4
22g.45293235T>GCA411879248UPK3Ac.626T>G (p.Ile209Ser)
c.263T>G (p.Ile88Ser)
c.632T>G (p.Ile211Ser)
c.269T>G (p.Ile90Ser)
22g.45293236C>ACA514882715UPK3Ac.627C>A (p.Ile209=)
c.264C>A (p.Ile88=)
c.633C>A (p.Ile211=)
c.270C>A (p.Ile90=)
22g.45293236C=CA2408185408UPK3Ac.627C= (p.Ile209=)
c.264C= (p.Ile88=)
c.633C= (p.Ile211=)
c.270C= (p.Ile90=)
22g.45293236C>GCA10284495UPK3Ac.627C>G (p.Ile209Met)
c.264C>G (p.Ile88Met)
c.633C>G (p.Ile211Met)
c.270C>G (p.Ile90Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.45293236C>TCA10284494UPK3Ac.627C>T (p.Ile209=)
c.264C>T (p.Ile88=)
c.633C>T (p.Ile211=)
c.270C>T (p.Ile90=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.45293237G>ACA10284496UPK3Ac.628G>A (p.Val210Ile)
c.265G>A (p.Val89Ile)
c.634G>A (p.Val212Ile)
c.271G>A (p.Val91Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.45293237G>CCA411879255UPK3Ac.628G>C (p.Val210Leu)
c.265G>C (p.Val89Leu)
c.634G>C (p.Val212Leu)
c.271G>C (p.Val91Leu)
22g.45293237G=CA2408185409UPK3Ac.628G= (p.Val210=)
c.265G= (p.Val89=)
c.634G= (p.Val212=)
c.271G= (p.Val91=)
22g.45293237G>TCA411879256UPK3Ac.628G>T (p.Val210Phe)
c.265G>T (p.Val89Phe)
c.634G>T (p.Val212Phe)
c.271G>T (p.Val91Phe)
 gnomAD v4
22g.45293238T>ACA411879259UPK3Ac.629T>A (p.Val210Asp)
c.266T>A (p.Val89Asp)
c.635T>A (p.Val212Asp)
c.272T>A (p.Val91Asp)
22g.45293238T>CCA10284497UPK3Ac.629T>C (p.Val210Ala)
c.266T>C (p.Val89Ala)
c.635T>C (p.Val212Ala)
c.272T>C (p.Val91Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.45293238T>GCA411879262UPK3Ac.629T>G (p.Val210Gly)
c.266T>G (p.Val89Gly)
c.635T>G (p.Val212Gly)
c.272T>G (p.Val91Gly)
22g.45293238T=CA2408185410UPK3Ac.629T= (p.Val210=)
c.266T= (p.Val89=)
c.635T= (p.Val212=)
c.272T= (p.Val91=)
22g.45293239C>ACA514882716UPK3Ac.630C>A (p.Val210=)
c.267C>A (p.Val89=)
c.636C>A (p.Val212=)
c.273C>A (p.Val91=)
22g.45293239C=CA2408185411UPK3Ac.630C= (p.Val210=)
c.267C= (p.Val89=)
c.636C= (p.Val212=)
c.273C= (p.Val91=)
22g.45293239C>GCA514882717UPK3Ac.630C>G (p.Val210=)
c.267C>G (p.Val89=)
c.636C>G (p.Val212=)
c.273C>G (p.Val91=)
22g.45293239C>TCA514882718UPK3Ac.630C>T (p.Val210=)
c.267C>T (p.Val89=)
c.636C>T (p.Val212=)
c.273C>T (p.Val91=)
 dbSNP gnomAD v2 gnomAD v4
22g.45293240A=CA2408185412UPK3Ac.631A= (p.Ile211=)
c.268A= (p.Ile90=)
c.637A= (p.Ile213=)
c.274A= (p.Ile92=)
22g.45293240A>CCA411879265UPK3Ac.631A>C (p.Ile211Leu)
c.268A>C (p.Ile90Leu)
c.637A>C (p.Ile213Leu)
c.274A>C (p.Ile92Leu)
 dbSNP
22g.45293240A>GCA411879269UPK3Ac.631A>G (p.Ile211Val)
c.268A>G (p.Ile90Val)
c.637A>G (p.Ile213Val)
c.274A>G (p.Ile92Val)
 dbSNP
22g.45293240A>TCA411879267UPK3Ac.631A>T (p.Ile211Phe)
c.268A>T (p.Ile90Phe)
c.637A>T (p.Ile213Phe)
c.274A>T (p.Ile92Phe)
 gnomAD v4
22g.45293241T>ACA411879272UPK3Ac.632T>A (p.Ile211Asn)
c.269T>A (p.Ile90Asn)
c.638T>A (p.Ile213Asn)
c.275T>A (p.Ile92Asn)
 dbSNP gnomAD v3 gnomAD v4
22g.45293241T>CCA411879275UPK3Ac.632T>C (p.Ile211Thr)
c.269T>C (p.Ile90Thr)
c.638T>C (p.Ile213Thr)
c.275T>C (p.Ile92Thr)
22g.45293241T>GCA411879277UPK3Ac.632T>G (p.Ile211Ser)
c.269T>G (p.Ile90Ser)
c.638T>G (p.Ile213Ser)
c.275T>G (p.Ile92Ser)
22g.45293241T=CA2408185413UPK3Ac.632T= (p.Ile211=)
c.269T= (p.Ile90=)
c.638T= (p.Ile213=)
c.275T= (p.Ile92=)
22g.45293242C>ACA514882719UPK3Ac.633C>A (p.Ile211=)
c.270C>A (p.Ile90=)
c.639C>A (p.Ile213=)
c.276C>A (p.Ile92=)
22g.45293242C>GCA411879280UPK3Ac.633C>G (p.Ile211Met)
c.270C>G (p.Ile90Met)
c.639C>G (p.Ile213Met)
c.276C>G (p.Ile92Met)
22g.45293242C>TCA514882720UPK3Ac.633C>T (p.Ile211=)
c.270C>T (p.Ile90=)
c.639C>T (p.Ile213=)
c.276C>T (p.Ile92=)
22g.45293243A=CA2408185414UPK3Ac.634A= (p.Thr212=)
c.271A= (p.Thr91=)
c.640A= (p.Thr214=)
c.277A= (p.Thr93=)
22g.45293243A>CCA411879283UPK3Ac.634A>C (p.Thr212Pro)
c.271A>C (p.Thr91Pro)
c.640A>C (p.Thr214Pro)
c.277A>C (p.Thr93Pro)
22g.45293243A>GCA10284498UPK3Ac.634A>G (p.Thr212Ala)
c.271A>G (p.Thr91Ala)
c.640A>G (p.Thr214Ala)
c.277A>G (p.Thr93Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.45293243A>TCA411879286UPK3Ac.634A>T (p.Thr212Ser)
c.271A>T (p.Thr91Ser)
c.640A>T (p.Thr214Ser)
c.277A>T (p.Thr93Ser)
22g.45293244C>ACA411879288UPK3Ac.635C>A (p.Thr212Asn)
c.272C>A (p.Thr91Asn)
c.641C>A (p.Thr214Asn)
c.278C>A (p.Thr93Asn)
 COSMIC
22g.45293244C=CA2408185415UPK3Ac.635C= (p.Thr212=)
c.272C= (p.Thr91=)
c.641C= (p.Thr214=)
c.278C= (p.Thr93=)
22g.45293244C>GCA411879291UPK3Ac.635C>G (p.Thr212Ser)
c.272C>G (p.Thr91Ser)
c.641C>G (p.Thr214Ser)
c.278C>G (p.Thr93Ser)
22g.45293244C>TCA411879294UPK3Ac.635C>T (p.Thr212Ile)
c.272C>T (p.Thr91Ile)
c.641C>T (p.Thr214Ile)
c.278C>T (p.Thr93Ile)
 dbSNP
22g.45293245T>ACA514882721UPK3Ac.636T>A (p.Thr212=)
c.273T>A (p.Thr91=)
c.642T>A (p.Thr214=)
c.279T>A (p.Thr93=)
22g.45293245T>CCA514882722UPK3Ac.636T>C (p.Thr212=)
c.273T>C (p.Thr91=)
c.642T>C (p.Thr214=)
c.279T>C (p.Thr93=)
22g.45293245T>GCA514882723UPK3Ac.636T>G (p.Thr212=)
c.273T>G (p.Thr91=)
c.642T>G (p.Thr214=)
c.279T>G (p.Thr93=)
22g.45293246T>ACA411879296UPK3Ac.637T>A (p.Ser213Thr)
c.274T>A (p.Ser92Thr)
c.643T>A (p.Ser215Thr)
c.280T>A (p.Ser94Thr)
22g.45293246T>CCA411879299UPK3Ac.637T>C (p.Ser213Pro)
c.274T>C (p.Ser92Pro)
c.643T>C (p.Ser215Pro)
c.280T>C (p.Ser94Pro)
22g.45293246T>GCA411879303UPK3Ac.637T>G (p.Ser213Ala)
c.274T>G (p.Ser92Ala)
c.643T>G (p.Ser215Ala)
c.280T>G (p.Ser94Ala)
22g.45293247C>ACA411879306UPK3Ac.638C>A (p.Ser213Tyr)
c.275C>A (p.Ser92Tyr)
c.644C>A (p.Ser215Tyr)
c.281C>A (p.Ser94Tyr)
22g.45293247C=CA2408185416UPK3Ac.638C= (p.Ser213=)
c.275C= (p.Ser92=)
c.644C= (p.Ser215=)
c.281C= (p.Ser94=)
22g.45293247C>GCA411879309UPK3Ac.638C>G (p.Ser213Cys)
c.275C>G (p.Ser92Cys)
c.644C>G (p.Ser215Cys)
c.281C>G (p.Ser94Cys)
22g.45293247C>TCA411879311UPK3Ac.638C>T (p.Ser213Phe)
c.275C>T (p.Ser92Phe)
c.644C>T (p.Ser215Phe)
c.281C>T (p.Ser94Phe)
 dbSNP gnomAD v4
22g.45293248C>ACA514882724UPK3Ac.639C>A (p.Ser213=)
c.276C>A (p.Ser92=)
c.645C>A (p.Ser215=)
c.282C>A (p.Ser94=)
22g.45293248C>GCA514882725UPK3Ac.639C>G (p.Ser213=)
c.276C>G (p.Ser92=)
c.645C>G (p.Ser215=)
c.282C>G (p.Ser94=)
22g.45293248C>TCA514882726UPK3Ac.639C>T (p.Ser213=)
c.276C>T (p.Ser92=)
c.645C>T (p.Ser215=)
c.282C>T (p.Ser94=)
22g.45293249A>CCA411879314UPK3Ac.640A>C (p.Ile214Leu)
c.277A>C (p.Ile93Leu)
c.646A>C (p.Ile216Leu)
c.283A>C (p.Ile95Leu)
22g.45293249A>GCA411879316UPK3Ac.640A>G (p.Ile214Val)
c.277A>G (p.Ile93Val)
c.646A>G (p.Ile216Val)
c.283A>G (p.Ile95Val)
 gnomAD v4
22g.45293249A>TCA411879319UPK3Ac.640A>T (p.Ile214Phe)
c.277A>T (p.Ile93Phe)
c.646A>T (p.Ile216Phe)
c.283A>T (p.Ile95Phe)
22g.45293250T>ACA411879321UPK3Ac.641T>A (p.Ile214Asn)
c.278T>A (p.Ile93Asn)
c.647T>A (p.Ile216Asn)
c.284T>A (p.Ile95Asn)
22g.45293250T>CCA411879326UPK3Ac.641T>C (p.Ile214Thr)
c.278T>C (p.Ile93Thr)
c.647T>C (p.Ile216Thr)
c.284T>C (p.Ile95Thr)
22g.45293250T>GCA411879322UPK3Ac.641T>G (p.Ile214Ser)
c.278T>G (p.Ile93Ser)
c.647T>G (p.Ile216Ser)
c.284T>G (p.Ile95Ser)
22g.45293251C>ACA514882727UPK3Ac.642C>A (p.Ile214=)
c.279C>A (p.Ile93=)
c.648C>A (p.Ile216=)
c.285C>A (p.Ile95=)
22g.45293251C>GCA411879329UPK3Ac.642C>G (p.Ile214Met)
c.279C>G (p.Ile93Met)
c.648C>G (p.Ile216Met)
c.285C>G (p.Ile95Met)
22g.45293251C>TCA514882728UPK3Ac.642C>T (p.Ile214=)
c.279C>T (p.Ile93=)
c.648C>T (p.Ile216=)
c.285C>T (p.Ile95=)
22g.45293252C>ACA411879331UPK3Ac.643C>A (p.Leu215Met)
c.280C>A (p.Leu94Met)
c.649C>A (p.Leu217Met)
c.286C>A (p.Leu96Met)
22g.45293252C=CA2408185417UPK3Ac.643C= (p.Leu215=)
c.280C= (p.Leu94=)
c.649C= (p.Leu217=)
c.286C= (p.Leu96=)
22g.45293252C>GCA411879342UPK3Ac.643C>G (p.Leu215Val)
c.280C>G (p.Leu94Val)
c.649C>G (p.Leu217Val)
c.286C>G (p.Leu96Val)
22g.45293252C>TCA514882729UPK3Ac.643C>T (p.Leu215=)
c.280C>T (p.Leu94=)
c.649C>T (p.Leu217=)
c.286C>T (p.Leu96=)
 dbSNP
22g.45293253T>ACA411879346UPK3Ac.644T>A (p.Leu215Gln)
c.281T>A (p.Leu94Gln)
c.650T>A (p.Leu217Gln)
c.287T>A (p.Leu96Gln)
22g.45293253T>CCA411879354UPK3Ac.644T>C (p.Leu215Pro)
c.281T>C (p.Leu94Pro)
c.650T>C (p.Leu217Pro)
c.287T>C (p.Leu96Pro)
22g.45293253T>GCA411879359UPK3Ac.644T>G (p.Leu215Arg)
c.281T>G (p.Leu94Arg)
c.650T>G (p.Leu217Arg)
c.287T>G (p.Leu96Arg)
22g.45293254G>ACA514882730UPK3Ac.645G>A (p.Leu215=)
c.282G>A (p.Leu94=)
c.651G>A (p.Leu217=)
c.288G>A (p.Leu96=)
 dbSNP gnomAD v4
22g.45293254G>CCA514882731UPK3Ac.645G>C (p.Leu215=)
c.282G>C (p.Leu94=)
c.651G>C (p.Leu217=)
c.288G>C (p.Leu96=)
22g.45293254G=CA2408185418UPK3Ac.645G= (p.Leu215=)
c.282G= (p.Leu94=)
c.651G= (p.Leu217=)
c.288G= (p.Leu96=)
22g.45293254G>TCA514882732UPK3Ac.645G>T (p.Leu215=)
c.282G>T (p.Leu94=)
c.651G>T (p.Leu217=)
c.288G>T (p.Leu96=)
22g.45293255G>ACA411879362UPK3Ac.646G>A (p.Gly216Ser)
c.283G>A (p.Gly95Ser)
c.652G>A (p.Gly218Ser)
c.289G>A (p.Gly97Ser)
22g.45293255G>CCA411879364UPK3Ac.646G>C (p.Gly216Arg)
c.283G>C (p.Gly95Arg)
c.652G>C (p.Gly218Arg)
c.289G>C (p.Gly97Arg)
22g.45293255G>TCA411879366UPK3Ac.646G>T (p.Gly216Cys)
c.283G>T (p.Gly95Cys)
c.652G>T (p.Gly218Cys)
c.289G>T (p.Gly97Cys)
 gnomAD v4
22g.45293256G>ACA411879370UPK3Ac.647G>A (p.Gly216Asp)
c.284G>A (p.Gly95Asp)
c.653G>A (p.Gly218Asp)
c.290G>A (p.Gly97Asp)
 dbSNP gnomAD v3 gnomAD v4
22g.45293256G>CCA411879372UPK3Ac.647G>C (p.Gly216Ala)
c.284G>C (p.Gly95Ala)
c.653G>C (p.Gly218Ala)
c.290G>C (p.Gly97Ala)
22g.45293256G=CA2408185419UPK3Ac.647G= (p.Gly216=)
c.284G= (p.Gly95=)
c.653G= (p.Gly218=)
c.290G= (p.Gly97=)
22g.45293256G>TCA411879373UPK3Ac.647G>T (p.Gly216Val)
c.284G>T (p.Gly95Val)
c.653G>T (p.Gly218Val)
c.290G>T (p.Gly97Val)
22g.45293257C>ACA514882733UPK3Ac.648C>A (p.Gly216=)
c.285C>A (p.Gly95=)
c.654C>A (p.Gly218=)
c.291C>A (p.Gly97=)
22g.45293257C>GCA514882734UPK3Ac.648C>G (p.Gly216=)
c.285C>G (p.Gly95=)
c.654C>G (p.Gly218=)
c.291C>G (p.Gly97=)
22g.45293257C>TCA514882735UPK3Ac.648C>T (p.Gly216=)
c.285C>T (p.Gly95=)
c.654C>T (p.Gly218=)
c.291C>T (p.Gly97=)
22g.45293258T>ACA411879379UPK3Ac.649T>A (p.Ser217Thr)
c.286T>A (p.Ser96Thr)
c.655T>A (p.Ser219Thr)
c.292T>A (p.Ser98Thr)
22g.45293258T>CCA411879375UPK3Ac.649T>C (p.Ser217Pro)
c.286T>C (p.Ser96Pro)
c.655T>C (p.Ser219Pro)
c.292T>C (p.Ser98Pro)
22g.45293258T>GCA411879376UPK3Ac.649T>G (p.Ser217Ala)
c.286T>G (p.Ser96Ala)
c.655T>G (p.Ser219Ala)
c.292T>G (p.Ser98Ala)
22g.45293259C>ACA411879382UPK3Ac.650C>A (p.Ser217Tyr)
c.287C>A (p.Ser96Tyr)
c.656C>A (p.Ser219Tyr)
c.293C>A (p.Ser98Tyr)
22g.45293259C=CA2408185420UPK3Ac.650C= (p.Ser217=)
c.287C= (p.Ser96=)
c.656C= (p.Ser219=)
c.293C= (p.Ser98=)
22g.45293259C>GCA411879385UPK3Ac.650C>G (p.Ser217Cys)
c.287C>G (p.Ser96Cys)
c.656C>G (p.Ser219Cys)
c.293C>G (p.Ser98Cys)
22g.45293259C>TCA325067372UPK3Ac.650C>T (p.Ser217Phe)
c.287C>T (p.Ser96Phe)
c.656C>T (p.Ser219Phe)
c.293C>T (p.Ser98Phe)
 dbSNP gnomAD v2 gnomAD v4
22g.45293260C>ACA514882736UPK3Ac.651C>A (p.Ser217=)
c.288C>A (p.Ser96=)
c.657C>A (p.Ser219=)
c.294C>A (p.Ser98=)
22g.45293260C>GCA514882738UPK3Ac.651C>G (p.Ser217=)
c.288C>G (p.Ser96=)
c.657C>G (p.Ser219=)
c.294C>G (p.Ser98=)
22g.45293260C>TCA514882737UPK3Ac.651C>T (p.Ser217=)
c.288C>T (p.Ser96=)
c.657C>T (p.Ser219=)
c.294C>T (p.Ser98=)
22g.45293261C>ACA411879388UPK3Ac.652C>A (p.Leu218Met)
c.289C>A (p.Leu97Met)
c.658C>A (p.Leu220Met)
c.295C>A (p.Leu99Met)
22g.45293261C>GCA411879389UPK3Ac.652C>G (p.Leu218Val)
c.289C>G (p.Leu97Val)
c.658C>G (p.Leu220Val)
c.295C>G (p.Leu99Val)
22g.45293261C>TCA514882739UPK3Ac.652C>T (p.Leu218=)
c.289C>T (p.Leu97=)
c.658C>T (p.Leu220=)
c.295C>T (p.Leu99=)
 gnomAD v4
22g.45293262T>ACA411879392UPK3Ac.653T>A (p.Leu218Gln)
c.290T>A (p.Leu97Gln)
c.659T>A (p.Leu220Gln)
c.296T>A (p.Leu99Gln)
22g.45293262T>CCA411879394UPK3Ac.653T>C (p.Leu218Pro)
c.290T>C (p.Leu97Pro)
c.659T>C (p.Leu220Pro)
c.296T>C (p.Leu99Pro)
 dbSNP gnomAD v3 gnomAD v4
22g.45293262T>GCA411879396UPK3Ac.653T>G (p.Leu218Arg)
c.290T>G (p.Leu97Arg)
c.659T>G (p.Leu220Arg)
c.296T>G (p.Leu99Arg)
22g.45293262T=CA2408185421UPK3Ac.653T= (p.Leu218=)
c.290T= (p.Leu97=)
c.659T= (p.Leu220=)
c.296T= (p.Leu99=)
22g.45293263G>ACA514882742UPK3Ac.654G>A (p.Leu218=)
c.291G>A (p.Leu97=)
c.660G>A (p.Leu220=)
c.297G>A (p.Leu99=)
22g.45293263G>CCA514882741UPK3Ac.654G>C (p.Leu218=)
c.291G>C (p.Leu97=)
c.660G>C (p.Leu220=)
c.297G>C (p.Leu99=)
22g.45293263G>TCA514882740UPK3Ac.654G>T (p.Leu218=)
c.291G>T (p.Leu97=)
c.660G>T (p.Leu220=)
c.297G>T (p.Leu99=)
22g.45293264C>ACA411879398UPK3Ac.655C>A (p.Pro219Thr)
c.292C>A (p.Pro98Thr)
c.661C>A (p.Pro221Thr)
c.298C>A (p.Pro100Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.45293264C=CA2408185422UPK3Ac.655C= (p.Pro219=)
c.292C= (p.Pro98=)
c.661C= (p.Pro221=)
c.298C= (p.Pro100=)
22g.45293264C>GCA411879400UPK3Ac.655C>G (p.Pro219Ala)
c.292C>G (p.Pro98Ala)
c.661C>G (p.Pro221Ala)
c.298C>G (p.Pro100Ala)
22g.45293264C>TCA411879402UPK3Ac.655C>T (p.Pro219Ser)
c.292C>T (p.Pro98Ser)
c.661C>T (p.Pro221Ser)
c.298C>T (p.Pro100Ser)
 dbSNP
22g.45293265C>ACA411879408UPK3Ac.656C>A (p.Pro219His)
c.293C>A (p.Pro98His)
c.662C>A (p.Pro221His)
c.299C>A (p.Pro100His)
22g.45293265C=CA2408185423UPK3Ac.656C= (p.Pro219=)
c.293C= (p.Pro98=)
c.662C= (p.Pro221=)
c.299C= (p.Pro100=)
22g.45293265C>GCA411879406UPK3Ac.656C>G (p.Pro219Arg)
c.293C>G (p.Pro98Arg)
c.662C>G (p.Pro221Arg)
c.299C>G (p.Pro100Arg)
22g.45293265C>TCA411879404UPK3Ac.656C>T (p.Pro219Leu)
c.293C>T (p.Pro98Leu)
c.662C>T (p.Pro221Leu)
c.299C>T (p.Pro100Leu)
 dbSNP gnomAD v2 gnomAD v4
22g.45293266C>ACA514882743UPK3Ac.657C>A (p.Pro219=)
c.294C>A (p.Pro98=)
c.663C>A (p.Pro221=)
c.300C>A (p.Pro100=)
22g.45293266C>GCA514882745UPK3Ac.657C>G (p.Pro219=)
c.294C>G (p.Pro98=)
c.663C>G (p.Pro221=)
c.300C>G (p.Pro100=)
22g.45293266C>TCA514882744UPK3Ac.657C>T (p.Pro219=)
c.294C>T (p.Pro98=)
c.663C>T (p.Pro221=)
c.300C>T (p.Pro100=)
22g.45293267T>ACA411879410UPK3Ac.658T>A (p.Phe220Ile)
c.295T>A (p.Phe99Ile)
c.664T>A (p.Phe222Ile)
c.301T>A (p.Phe101Ile)
22g.45293267T>CCA411879412UPK3Ac.658T>C (p.Phe220Leu)
c.295T>C (p.Phe99Leu)
c.664T>C (p.Phe222Leu)
c.301T>C (p.Phe101Leu)
 dbSNP
22g.45293267T>GCA411879414UPK3Ac.658T>G (p.Phe220Val)
c.295T>G (p.Phe99Val)
c.664T>G (p.Phe222Val)
c.301T>G (p.Phe101Val)
22g.45293267T=CA2408185424UPK3Ac.658T= (p.Phe220=)
c.295T= (p.Phe99=)
c.664T= (p.Phe222=)
c.301T= (p.Phe101=)
22g.45293268delCA2657267249UPK3Ac.659del (p.Phe220SerfsTer?)
c.296del (p.Phe99SerfsTer?)
c.665del (p.Phe222SerfsTer?)
c.302del (p.Phe101SerfsTer?)
 gnomAD v4
22g.45293268T>ACA411879416UPK3Ac.659T>A (p.Phe220Tyr)
c.296T>A (p.Phe99Tyr)
c.665T>A (p.Phe222Tyr)
c.302T>A (p.Phe101Tyr)
 gnomAD v4
22g.45293268T>CCA411879418UPK3Ac.659T>C (p.Phe220Ser)
c.296T>C (p.Phe99Ser)
c.665T>C (p.Phe222Ser)
c.302T>C (p.Phe101Ser)
 gnomAD v4
22g.45293268T>GCA411879420UPK3Ac.659T>G (p.Phe220Cys)
c.296T>G (p.Phe99Cys)
c.665T>G (p.Phe222Cys)
c.302T>G (p.Phe101Cys)
22g.45293269C>ACA411879421UPK3Ac.660C>A (p.Phe220Leu)
c.297C>A (p.Phe99Leu)
c.666C>A (p.Phe222Leu)
c.303C>A (p.Phe101Leu)
22g.45293269C>GCA411879423UPK3Ac.660C>G (p.Phe220Leu)
c.297C>G (p.Phe99Leu)
c.666C>G (p.Phe222Leu)
c.303C>G (p.Phe101Leu)
22g.45293269C>TCA514882746UPK3Ac.660C>T (p.Phe220=)
c.297C>T (p.Phe99=)
c.666C>T (p.Phe222=)
c.303C>T (p.Phe101=)
 gnomAD v4 COSMIC
22g.45293270T>ACA411879425UPK3Ac.661T>A (p.Phe221Ile)
c.298T>A (p.Phe100Ile)
c.667T>A (p.Phe223Ile)
c.304T>A (p.Phe102Ile)
22g.45293270T>CCA411879426UPK3Ac.661T>C (p.Phe221Leu)
c.298T>C (p.Phe100Leu)
c.667T>C (p.Phe223Leu)
c.304T>C (p.Phe102Leu)
22g.45293270T>GCA411879428UPK3Ac.661T>G (p.Phe221Val)
c.298T>G (p.Phe100Val)
c.667T>G (p.Phe223Val)
c.304T>G (p.Phe102Val)
22g.45293270_45293272delCA2657267250UPK3Ac.661_663del (p.Phe221del)
c.298_300del (p.Phe100del)
c.667_669del (p.Phe223del)
c.304_306del (p.Phe102del)
 gnomAD v4
22g.45293271T>ACA411879430UPK3Ac.662T>A (p.Phe221Tyr)
c.299T>A (p.Phe100Tyr)
c.668T>A (p.Phe223Tyr)
c.305T>A (p.Phe102Tyr)
22g.45293271T>CCA411879431UPK3Ac.662T>C (p.Phe221Ser)
c.299T>C (p.Phe100Ser)
c.668T>C (p.Phe223Ser)
c.305T>C (p.Phe102Ser)
 dbSNP gnomAD v3 gnomAD v4
22g.45293271T>GCA411879433UPK3Ac.662T>G (p.Phe221Cys)
c.299T>G (p.Phe100Cys)
c.668T>G (p.Phe223Cys)
c.305T>G (p.Phe102Cys)
22g.45293271T=CA2408185425UPK3Ac.662T= (p.Phe221=)
c.299T= (p.Phe100=)
c.668T= (p.Phe223=)
c.305T= (p.Phe102=)
22g.45293271_45293275delinsTTCTACA2408185426UPK3Ac.662_666delinsTTCTA (p.Phe221=)
c.299_303delinsTTCTA (p.Phe100=)
c.668_672delinsTTCTA (p.Phe223=)
c.305_309delinsTTCTA (p.Phe102=)
22g.45293272T>ACA411879437UPK3Ac.663T>A (p.Phe221Leu)
c.300T>A (p.Phe100Leu)
c.669T>A (p.Phe223Leu)
c.306T>A (p.Phe102Leu)
22g.45293272T>CCA514882747UPK3Ac.663T>C (p.Phe221=)
c.300T>C (p.Phe100=)
c.669T>C (p.Phe223=)
c.306T>C (p.Phe102=)
22g.45293272T>GCA411879436UPK3Ac.663T>G (p.Phe221Leu)
c.300T>G (p.Phe100Leu)
c.669T>G (p.Phe223Leu)
c.306T>G (p.Phe102Leu)
22g.45293272_45293275delCA2408185427UPK3Ac.663_666del (p.Leu223TrpfsTer?)
c.300_303del (p.Leu102TrpfsTer?)
c.669_672del (p.Leu225TrpfsTer?)
c.306_309del (p.Leu104TrpfsTer?)
 dbSNP
22g.45293273C>ACA411879439UPK3Ac.664C>A (p.Leu222Ile)
c.301C>A (p.Leu101Ile)
c.670C>A (p.Leu224Ile)
c.307C>A (p.Leu103Ile)
 gnomAD v4
22g.45293273C>GCA411879441UPK3Ac.664C>G (p.Leu222Val)
c.301C>G (p.Leu101Val)
c.670C>G (p.Leu224Val)
c.307C>G (p.Leu103Val)
 gnomAD v4
22g.45293273C>TCA514882748UPK3Ac.664C>T (p.Leu222=)
c.301C>T (p.Leu101=)
c.670C>T (p.Leu224=)
c.307C>T (p.Leu103=)
22g.45293274T>ACA411879443UPK3Ac.665T>A (p.Leu222Gln)
c.302T>A (p.Leu101Gln)
c.671T>A (p.Leu224Gln)
c.308T>A (p.Leu103Gln)
22g.45293274T>CCA411879445UPK3Ac.665T>C (p.Leu222Pro)
c.302T>C (p.Leu101Pro)
c.671T>C (p.Leu224Pro)
c.308T>C (p.Leu103Pro)
22g.45293274T>GCA411879447UPK3Ac.665T>G (p.Leu222Arg)
c.302T>G (p.Leu101Arg)
c.671T>G (p.Leu224Arg)
c.308T>G (p.Leu103Arg)
22g.45293275A>CCA514882749UPK3Ac.666A>C (p.Leu222=)
c.303A>C (p.Leu101=)
c.672A>C (p.Leu224=)
c.309A>C (p.Leu103=)
22g.45293275A>GCA514882750UPK3Ac.666A>G (p.Leu222=)
c.303A>G (p.Leu101=)
c.672A>G (p.Leu224=)
c.309A>G (p.Leu103=)
22g.45293275A>TCA514882751UPK3Ac.666A>T (p.Leu222=)
c.303A>T (p.Leu101=)
c.672A>T (p.Leu224=)
c.309A>T (p.Leu103=)
22g.45293276C>ACA411879452UPK3Ac.667C>A (p.Leu223Ile)
c.304C>A (p.Leu102Ile)
c.673C>A (p.Leu225Ile)
c.310C>A (p.Leu104Ile)
22g.45293276C>GCA411879450UPK3Ac.667C>G (p.Leu223Val)
c.304C>G (p.Leu102Val)
c.673C>G (p.Leu225Val)
c.310C>G (p.Leu104Val)
22g.45293276C>TCA411879449UPK3Ac.667C>T (p.Leu223Phe)
c.304C>T (p.Leu102Phe)
c.673C>T (p.Leu225Phe)
c.310C>T (p.Leu104Phe)
 gnomAD v4
22g.45293277T>ACA411879454UPK3Ac.668T>A (p.Leu223His)
c.305T>A (p.Leu102His)
c.674T>A (p.Leu225His)
c.311T>A (p.Leu104His)
22g.45293277T>CCA411879455UPK3Ac.668T>C (p.Leu223Pro)
c.305T>C (p.Leu102Pro)
c.674T>C (p.Leu225Pro)
c.311T>C (p.Leu104Pro)
22g.45293277T>GCA10284499UPK3Ac.668T>G (p.Leu223Arg)
c.305T>G (p.Leu102Arg)
c.674T>G (p.Leu225Arg)
c.311T>G (p.Leu104Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.45293277T=CA2408185428UPK3Ac.668T= (p.Leu223=)
c.305T= (p.Leu102=)
c.674T= (p.Leu225=)
c.311T= (p.Leu104=)
22g.45293278T>ACA514882752UPK3Ac.669T>A (p.Leu223=)
c.306T>A (p.Leu102=)
c.675T>A (p.Leu225=)
c.312T>A (p.Leu104=)
22g.45293278T>CCA514882753UPK3Ac.669T>C (p.Leu223=)
c.306T>C (p.Leu102=)
c.675T>C (p.Leu225=)
c.312T>C (p.Leu104=)
22g.45293278T>GCA514882754UPK3Ac.669T>G (p.Leu223=)
c.306T>G (p.Leu102=)
c.675T>G (p.Leu225=)
c.312T>G (p.Leu104=)
22g.45293279G>ACA411879456UPK3Ac.670G>A (p.Val224Met)
c.307G>A (p.Val103Met)
c.676G>A (p.Val226Met)
c.313G>A (p.Val105Met)
 gnomAD v4
22g.45293279G>CCA411879457UPK3Ac.670G>C (p.Val224Leu)
c.307G>C (p.Val103Leu)
c.676G>C (p.Val226Leu)
c.313G>C (p.Val105Leu)
22g.45293279G=CA2408185429UPK3Ac.670G= (p.Val224=)
c.307G= (p.Val103=)
c.676G= (p.Val226=)
c.313G= (p.Val105=)
22g.45293279G>TCA411879458UPK3Ac.670G>T (p.Val224Leu)
c.307G>T (p.Val103Leu)
c.676G>T (p.Val226Leu)
c.313G>T (p.Val105Leu)
22g.45293279_45293280insCTCACA2408185432UPK3Ac.670_671insCTCA (p.Val224AlafsTer19)
c.307_308insCTCA (p.Val103AlafsTer19)
c.676_677insCTCA (p.Val226AlafsTer19)
c.313_314insCTCA (p.Val105AlafsTer19)
 dbSNP
22g.45293280T>ACA411879459UPK3Ac.671T>A (p.Val224Glu)
c.308T>A (p.Val103Glu)
c.677T>A (p.Val226Glu)
c.314T>A (p.Val105Glu)
 dbSNP COSMIC
22g.45293280T>CCA411879461UPK3Ac.671T>C (p.Val224Ala)
c.308T>C (p.Val103Ala)
c.677T>C (p.Val226Ala)
c.314T>C (p.Val105Ala)
 dbSNP gnomAD v2 gnomAD v4
22g.45293280T>GCA411879460UPK3Ac.671T>G (p.Val224Gly)
c.308T>G (p.Val103Gly)
c.677T>G (p.Val226Gly)
c.314T>G (p.Val105Gly)
22g.45293280T=CA2408185431UPK3Ac.671T= (p.Val224=)
c.308T= (p.Val103=)
c.677T= (p.Val226=)
c.314T= (p.Val105=)
22g.45293280_45293281delinsTGCA2408185430UPK3Ac.671_672delinsTG (p.Val224=)
c.308_309delinsTG (p.Val103=)
c.677_678delinsTG (p.Val226=)
c.314_315delinsTG (p.Val105=)
22g.45293281G>ACA514882755UPK3Ac.672G>A (p.Val224=)
c.309G>A (p.Val103=)
c.678G>A (p.Val226=)
c.315G>A (p.Val105=)
22g.45293281G>CCA514882756UPK3Ac.672G>C (p.Val224=)
c.309G>C (p.Val103=)
c.678G>C (p.Val226=)
c.315G>C (p.Val105=)
22g.45293281G>TCA514882757UPK3Ac.672G>T (p.Val224=)
c.309G>T (p.Val103=)
c.678G>T (p.Val226=)
c.315G>T (p.Val105=)
22g.45293283delCA10284500UPK3Ac.674del (p.Gly225ValfsTer?)
c.311del (p.Gly104ValfsTer?)
c.680del (p.Gly227ValfsTer?)
c.317del (p.Gly106ValfsTer?)
 dbSNP ExAC gnomAD v2
22g.45293282G>ACA411879462UPK3Ac.673G>A (p.Gly225Ser)
c.310G>A (p.Gly104Ser)
c.679G>A (p.Gly227Ser)
c.316G>A (p.Gly106Ser)
 gnomAD v4
22g.45293282G>CCA411879463UPK3Ac.673G>C (p.Gly225Arg)
c.310G>C (p.Gly104Arg)
c.679G>C (p.Gly227Arg)
c.316G>C (p.Gly106Arg)
22g.45293282G>TCA411879464UPK3Ac.673G>T (p.Gly225Cys)
c.310G>T (p.Gly104Cys)
c.679G>T (p.Gly227Cys)
c.316G>T (p.Gly106Cys)
22g.45293283G>ACA411879465UPK3Ac.674G>A (p.Gly225Asp)
c.311G>A (p.Gly104Asp)
c.680G>A (p.Gly227Asp)
c.317G>A (p.Gly106Asp)
22g.45293283G>CCA411879466UPK3Ac.674G>C (p.Gly225Ala)
c.311G>C (p.Gly104Ala)
c.680G>C (p.Gly227Ala)
c.317G>C (p.Gly106Ala)
22g.45293283G>TCA411879467UPK3Ac.674G>T (p.Gly225Val)
c.311G>T (p.Gly104Val)
c.680G>T (p.Gly227Val)
c.317G>T (p.Gly106Val)
22g.45293284T>ACA514882760UPK3Ac.675T>A (p.Gly225=)
c.312T>A (p.Gly104=)
c.681T>A (p.Gly227=)
c.318T>A (p.Gly106=)
22g.45293284T>CCA514882758UPK3Ac.675T>C (p.Gly225=)
c.312T>C (p.Gly104=)
c.681T>C (p.Gly227=)
c.318T>C (p.Gly106=)
22g.45293284T>GCA514882759UPK3Ac.675T>G (p.Gly225=)
c.312T>G (p.Gly104=)
c.681T>G (p.Gly227=)
c.318T>G (p.Gly106=)
22g.45293285T>ACA411879468UPK3Ac.676T>A (p.Phe226Ile)
c.313T>A (p.Phe105Ile)
c.682T>A (p.Phe228Ile)
c.319T>A (p.Phe107Ile)
22g.45293285T>CCA411879469UPK3Ac.676T>C (p.Phe226Leu)
c.313T>C (p.Phe105Leu)
c.682T>C (p.Phe228Leu)
c.319T>C (p.Phe107Leu)
22g.45293285T>GCA411879470UPK3Ac.676T>G (p.Phe226Val)
c.313T>G (p.Phe105Val)
c.682T>G (p.Phe228Val)
c.319T>G (p.Phe107Val)
22g.45293286T>ACA411879471UPK3Ac.677T>A (p.Phe226Tyr)
c.314T>A (p.Phe105Tyr)
c.683T>A (p.Phe228Tyr)
c.320T>A (p.Phe107Tyr)
22g.45293286T>CCA411879472UPK3Ac.677T>C (p.Phe226Ser)
c.314T>C (p.Phe105Ser)
c.683T>C (p.Phe228Ser)
c.320T>C (p.Phe107Ser)
22g.45293286T>GCA411879473UPK3Ac.677T>G (p.Phe226Cys)
c.314T>G (p.Phe105Cys)
c.683T>G (p.Phe228Cys)
c.320T>G (p.Phe107Cys)
22g.45293286_45293289delinsTTGCCA2408185433UPK3Ac.677_680delinsTTGC (p.Phe226=)
c.314_317delinsTTGC (p.Phe105=)
c.683_686delinsTTGC (p.Phe228=)
c.320_323delinsTTGC (p.Phe107=)
22g.45293287T>ACA411879474UPK3Ac.678T>A (p.Phe226Leu)
c.315T>A (p.Phe105Leu)
c.684T>A (p.Phe228Leu)
c.321T>A (p.Phe107Leu)
22g.45293287T>CCA514882761UPK3Ac.678T>C (p.Phe226=)
c.315T>C (p.Phe105=)
c.684T>C (p.Phe228=)
c.321T>C (p.Phe107=)
22g.45293287T>GCA411879475UPK3Ac.678T>G (p.Phe226Leu)
c.315T>G (p.Phe105Leu)
c.684T>G (p.Phe228Leu)
c.321T>G (p.Phe107Leu)
22g.45293287_45293288delCA2539337802UPK3Ac.678_679del (p.Ala227TrpfsTer14)
c.315_316del (p.Ala106TrpfsTer14)
c.684_685del (p.Ala229TrpfsTer14)
c.321_322del (p.Ala108TrpfsTer14)
22g.45293289_45293291delCA639614153UPK3Ac.680_682del (p.Ala227del)
c.317_319del (p.Ala106del)
c.686_688del (p.Ala229del)
c.323_325del (p.Ala108del)
 dbSNP gnomAD v2 gnomAD v4
22g.45293288G>ACA411879476UPK3Ac.679G>A (p.Ala227Thr)
c.316G>A (p.Ala106Thr)
c.685G>A (p.Ala229Thr)
c.322G>A (p.Ala108Thr)
22g.45293288G>CCA411879477UPK3Ac.679G>C (p.Ala227Pro)
c.316G>C (p.Ala106Pro)
c.685G>C (p.Ala229Pro)
c.322G>C (p.Ala108Pro)
22g.45293288G>TCA411879478UPK3Ac.679G>T (p.Ala227Ser)
c.316G>T (p.Ala106Ser)
c.685G>T (p.Ala229Ser)
c.322G>T (p.Ala108Ser)
 COSMIC
22g.45293289C>ACA411879479UPK3Ac.680C>A (p.Ala227Asp)
c.317C>A (p.Ala106Asp)
c.686C>A (p.Ala229Asp)
c.323C>A (p.Ala108Asp)
22g.45293289C=CA2408185435UPK3Ac.680C= (p.Ala227=)
c.317C= (p.Ala106=)
c.686C= (p.Ala229=)
c.323C= (p.Ala108=)
22g.45293289C>GCA411879480UPK3Ac.680C>G (p.Ala227Gly)
c.317C>G (p.Ala106Gly)
c.686C>G (p.Ala229Gly)
c.323C>G (p.Ala108Gly)
22g.45293289C>TCA411879481UPK3Ac.680C>T (p.Ala227Val)
c.317C>T (p.Ala106Val)
c.686C>T (p.Ala229Val)
c.323C>T (p.Ala108Val)
 dbSNP gnomAD v4
22g.45293289_45293290delinsCTCA2408185434UPK3Ac.680_681delinsCT (p.Ala227=)
c.317_318delinsCT (p.Ala106=)
c.686_687delinsCT (p.Ala229=)
c.323_324delinsCT (p.Ala108=)
22g.45293290delCA753583141UPK3Ac.681del (p.Gly228AlafsTer?)
c.318del (p.Gly107AlafsTer?)
c.687del (p.Gly230AlafsTer?)
c.324del (p.Gly109AlafsTer?)
 dbSNP gnomAD v3 gnomAD v4
22g.45293290T>ACA514882762UPK3Ac.681T>A (p.Ala227=)
c.318T>A (p.Ala106=)
c.687T>A (p.Ala229=)
c.324T>A (p.Ala108=)
 dbSNP gnomAD v3 gnomAD v4
22g.45293290T>CCA514882763UPK3Ac.681T>C (p.Ala227=)
c.318T>C (p.Ala106=)
c.687T>C (p.Ala229=)
c.324T>C (p.Ala108=)
 gnomAD v4
22g.45293290T>GCA514882764UPK3Ac.681T>G (p.Ala227=)
c.318T>G (p.Ala106=)
c.687T>G (p.Ala229=)
c.324T>G (p.Ala108=)
22g.45293290T=CA2408185436UPK3Ac.681T= (p.Ala227=)
c.318T= (p.Ala106=)
c.687T= (p.Ala229=)
c.324T= (p.Ala108=)
22g.45293291G>ACA411879482UPK3Ac.682G>A (p.Gly228Ser)
c.319G>A (p.Gly107Ser)
c.688G>A (p.Gly230Ser)
c.325G>A (p.Gly109Ser)
22g.45293291G>CCA411879483UPK3Ac.682G>C (p.Gly228Arg)
c.319G>C (p.Gly107Arg)
c.688G>C (p.Gly230Arg)
c.325G>C (p.Gly109Arg)
22g.45293291G=CA2408185437UPK3Ac.682G= (p.Gly228=)
c.319G= (p.Gly107=)
c.688G= (p.Gly230=)
c.325G= (p.Gly109=)
22g.45293291G>TCA411879484UPK3Ac.682G>T (p.Gly228Cys)
c.319G>T (p.Gly107Cys)
c.688G>T (p.Gly230Cys)
c.325G>T (p.Gly109Cys)
 dbSNP gnomAD v3 gnomAD v4
22g.45293292G>ACA411879485UPK3Ac.683G>A (p.Gly228Asp)
c.320G>A (p.Gly107Asp)
c.689G>A (p.Gly230Asp)
c.326G>A (p.Gly109Asp)
22g.45293292G>CCA411879486UPK3Ac.683G>C (p.Gly228Ala)
c.320G>C (p.Gly107Ala)
c.689G>C (p.Gly230Ala)
c.326G>C (p.Gly109Ala)
 dbSNP
22g.45293292G=CA2408185438UPK3Ac.683G= (p.Gly228=)
c.320G= (p.Gly107=)
c.689G= (p.Gly230=)
c.326G= (p.Gly109=)
22g.45293292G>TCA411879487UPK3Ac.683G>T (p.Gly228Val)
c.320G>T (p.Gly107Val)
c.689G>T (p.Gly230Val)
c.326G>T (p.Gly109Val)
 dbSNP gnomAD v4
22g.45293293C>ACA10284502UPK3Ac.684C>A (p.Gly228=)
c.321C>A (p.Gly107=)
c.690C>A (p.Gly230=)
c.327C>A (p.Gly109=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.45293293C=CA2408185439UPK3Ac.684C= (p.Gly228=)
c.321C= (p.Gly107=)
c.690C= (p.Gly230=)
c.327C= (p.Gly109=)
22g.45293293C>GCA514882765UPK3Ac.684C>G (p.Gly228=)
c.321C>G (p.Gly107=)
c.690C>G (p.Gly230=)
c.327C>G (p.Gly109=)
22g.45293293C>TCA10284501UPK3Ac.684C>T (p.Gly228=)
c.321C>T (p.Gly107=)
c.690C>T (p.Gly230=)
c.327C>T (p.Gly109=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.45293294G>ACA10284503UPK3Ac.685G>A (p.Ala229Thr)
c.322G>A (p.Ala108Thr)
c.691G>A (p.Ala231Thr)
c.328G>A (p.Ala110Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.45293294G>CCA411879489UPK3Ac.685G>C (p.Ala229Pro)
c.322G>C (p.Ala108Pro)
c.691G>C (p.Ala231Pro)
c.328G>C (p.Ala110Pro)
 dbSNP
22g.45293294G=CA2408185440UPK3Ac.685G= (p.Ala229=)
c.322G= (p.Ala108=)
c.691G= (p.Ala231=)
c.328G= (p.Ala110=)
22g.45293294G>TCA411879488UPK3Ac.685G>T (p.Ala229Ser)
c.322G>T (p.Ala108Ser)
c.691G>T (p.Ala231Ser)
c.328G>T (p.Ala110Ser)
22g.45293295C>ACA411879492UPK3Ac.686C>A (p.Ala229Asp)
c.323C>A (p.Ala108Asp)
c.692C>A (p.Ala231Asp)
c.329C>A (p.Ala110Asp)
 dbSNP gnomAD v2
22g.45293295C=CA2408185441UPK3Ac.686C= (p.Ala229=)
c.323C= (p.Ala108=)
c.692C= (p.Ala231=)
c.329C= (p.Ala110=)
22g.45293295C>GCA411879496UPK3Ac.686C>G (p.Ala229Gly)
c.323C>G (p.Ala108Gly)
c.692C>G (p.Ala231Gly)
c.329C>G (p.Ala110Gly)
22g.45293295C>TCA411879494UPK3Ac.686C>T (p.Ala229Val)
c.323C>T (p.Ala108Val)
c.692C>T (p.Ala231Val)
c.329C>T (p.Ala110Val)
22g.45293296C>ACA10284504UPK3Ac.687C>A (p.Ala229=)
c.324C>A (p.Ala108=)
c.693C>A (p.Ala231=)
c.330C>A (p.Ala110=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.45293296C=CA2408185442UPK3Ac.687C= (p.Ala229=)
c.324C= (p.Ala108=)
c.693C= (p.Ala231=)
c.330C= (p.Ala110=)
22g.45293296C>GCA514882766UPK3Ac.687C>G (p.Ala229=)
c.324C>G (p.Ala108=)
c.693C>G (p.Ala231=)
c.330C>G (p.Ala110=)
22g.45293296C>TCA514882767UPK3Ac.687C>T (p.Ala229=)
c.324C>T (p.Ala108=)
c.693C>T (p.Ala231=)
c.330C>T (p.Ala110=)
 dbSNP gnomAD v3 gnomAD v4
22g.45293297A=CA2408185443UPK3Ac.688A= (p.Ile230=)
c.325A= (p.Ile109=)
c.694A= (p.Ile232=)
c.331A= (p.Ile111=)
22g.45293297A>CCA411879500UPK3Ac.688A>C (p.Ile230Leu)
c.325A>C (p.Ile109Leu)
c.694A>C (p.Ile232Leu)
c.331A>C (p.Ile111Leu)
22g.45293297A>GCA411879502UPK3Ac.688A>G (p.Ile230Val)
c.325A>G (p.Ile109Val)
c.694A>G (p.Ile232Val)
c.331A>G (p.Ile111Val)
 dbSNP gnomAD v4
22g.45293297A>TCA411879503UPK3Ac.688A>T (p.Ile230Phe)
c.325A>T (p.Ile109Phe)
c.694A>T (p.Ile232Phe)
c.331A>T (p.Ile111Phe)
22g.45293297_45293321delinsATTGCCCTCAGCCTCGTGTAAGTACCA2408185444UPK3Ac.688_704+8delinsATTGCCCTCAGCCTCGTGTAAGTAC
c.325_341+8delinsATTGCCCTCAGCCTCGTGTAAGTAC
c.694_710+8delinsATTGCCCTCAGCCTCGTGTAAGTAC
c.331_347+8delinsATTGCCCTCAGCCTCGTGTAAGTAC
22g.45293298T>ACA411879506UPK3Ac.689T>A (p.Ile230Asn)
c.326T>A (p.Ile109Asn)
c.695T>A (p.Ile232Asn)
c.332T>A (p.Ile111Asn)
22g.45293298T>CCA325067398UPK3Ac.689T>C (p.Ile230Thr)
c.326T>C (p.Ile109Thr)
c.695T>C (p.Ile232Thr)
c.332T>C (p.Ile111Thr)
 dbSNP gnomAD v4
22g.45293298T>GCA411879509UPK3Ac.689T>G (p.Ile230Ser)
c.326T>G (p.Ile109Ser)
c.695T>G (p.Ile232Ser)
c.332T>G (p.Ile111Ser)
22g.45293298T=CA2408185445UPK3Ac.689T= (p.Ile230=)
c.326T= (p.Ile109=)
c.695T= (p.Ile232=)
c.332T= (p.Ile111=)
22g.45293298_45293321delCA10284505UPK3Ac.689_704+8del
c.326_341+8del
c.695_710+8del
c.332_347+8del
 dbSNP ExAC gnomAD v2
22g.45293299T>ACA514882769UPK3Ac.690T>A (p.Ile230=)
c.327T>A (p.Ile109=)
c.696T>A (p.Ile232=)
c.333T>A (p.Ile111=)
22g.45293299T>CCA514882768UPK3Ac.690T>C (p.Ile230=)
c.327T>C (p.Ile109=)
c.696T>C (p.Ile232=)
c.333T>C (p.Ile111=)
22g.45293299T>GCA411879512UPK3Ac.690T>G (p.Ile230Met)
c.327T>G (p.Ile109Met)
c.696T>G (p.Ile232Met)
c.333T>G (p.Ile111Met)
22g.45293300G>ACA10284506UPK3Ac.691G>A (p.Ala231Thr)
c.328G>A (p.Ala110Thr)
c.697G>A (p.Ala233Thr)
c.334G>A (p.Ala112Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.45293300G>CCA411879514UPK3Ac.691G>C (p.Ala231Pro)
c.328G>C (p.Ala110Pro)
c.697G>C (p.Ala233Pro)
c.334G>C (p.Ala112Pro)
22g.45293300G=CA2408185446UPK3Ac.691G= (p.Ala231=)
c.328G= (p.Ala110=)
c.697G= (p.Ala233=)
c.334G= (p.Ala112=)
22g.45293300G>TCA411879516UPK3Ac.691G>T (p.Ala231Ser)
c.328G>T (p.Ala110Ser)
c.697G>T (p.Ala233Ser)
c.334G>T (p.Ala112Ser)
22g.45293301C>ACA411879524UPK3Ac.692C>A (p.Ala231Asp)
c.329C>A (p.Ala110Asp)
c.698C>A (p.Ala233Asp)
c.335C>A (p.Ala112Asp)
22g.45293301C=CA2408185447UPK3Ac.692C= (p.Ala231=)
c.329C= (p.Ala110=)
c.698C= (p.Ala233=)
c.335C= (p.Ala112=)
22g.45293301C>GCA411879521UPK3Ac.692C>G (p.Ala231Gly)
c.329C>G (p.Ala110Gly)
c.698C>G (p.Ala233Gly)
c.335C>G (p.Ala112Gly)
22g.45293301C>TCA411879522UPK3Ac.692C>T (p.Ala231Val)
c.329C>T (p.Ala110Val)
c.698C>T (p.Ala233Val)
c.335C>T (p.Ala112Val)
 dbSNP
22g.45293302C>ACA514882770UPK3Ac.693C>A (p.Ala231=)
c.330C>A (p.Ala110=)
c.699C>A (p.Ala233=)
c.336C>A (p.Ala112=)
22g.45293302C>GCA514882772UPK3Ac.693C>G (p.Ala231=)
c.330C>G (p.Ala110=)
c.699C>G (p.Ala233=)
c.336C>G (p.Ala112=)
22g.45293302C>TCA514882771UPK3Ac.693C>T (p.Ala231=)
c.330C>T (p.Ala110=)
c.699C>T (p.Ala233=)
c.336C>T (p.Ala112=)
22g.45293303C>ACA411879533UPK3Ac.694C>A (p.Leu232Ile)
c.331C>A (p.Leu111Ile)
c.700C>A (p.Leu234Ile)
c.337C>A (p.Leu113Ile)
 COSMIC
22g.45293303C>GCA411879535UPK3Ac.694C>G (p.Leu232Val)
c.331C>G (p.Leu111Val)
c.700C>G (p.Leu234Val)
c.337C>G (p.Leu113Val)
22g.45293303C>TCA411879537UPK3Ac.694C>T (p.Leu232Phe)
c.331C>T (p.Leu111Phe)
c.700C>T (p.Leu234Phe)
c.337C>T (p.Leu113Phe)
22g.45293303_45293310delinsCTCAGCCTCA2408185448UPK3Ac.694_701delinsCTCAGCCT (p.Leu232=)
c.331_338delinsCTCAGCCT (p.Leu111=)
c.700_707delinsCTCAGCCT (p.Leu234=)
c.337_344delinsCTCAGCCT (p.Leu113=)
22g.45293304T>ACA411879539UPK3Ac.695T>A (p.Leu232His)
c.332T>A (p.Leu111His)
c.701T>A (p.Leu234His)
c.338T>A (p.Leu113His)
22g.45293304T>CCA411879541UPK3Ac.695T>C (p.Leu232Pro)
c.332T>C (p.Leu111Pro)
c.701T>C (p.Leu234Pro)
c.338T>C (p.Leu113Pro)
22g.45293304T>GCA411879542UPK3Ac.695T>G (p.Leu232Arg)
c.332T>G (p.Leu111Arg)
c.701T>G (p.Leu234Arg)
c.338T>G (p.Leu113Arg)
22g.45293304_45293310delCA639614158UPK3Ac.695_701del (p.Leu232ProfsTer?)
c.332_338del (p.Leu111ProfsTer?)
c.701_707del (p.Leu234ProfsTer?)
c.338_344del (p.Leu113ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
22g.45293305C>ACA514882773UPK3Ac.696C>A (p.Leu232=)
c.333C>A (p.Leu111=)
c.702C>A (p.Leu234=)
c.339C>A (p.Leu113=)
22g.45293305C=CA2408185449UPK3Ac.696C= (p.Leu232=)
c.333C= (p.Leu111=)
c.702C= (p.Leu234=)
c.339C= (p.Leu113=)
22g.45293305C>GCA514882774UPK3Ac.696C>G (p.Leu232=)
c.333C>G (p.Leu111=)
c.702C>G (p.Leu234=)
c.339C>G (p.Leu113=)
 dbSNP
22g.45293305C>TCA514882775UPK3Ac.696C>T (p.Leu232=)
c.333C>T (p.Leu111=)
c.702C>T (p.Leu234=)
c.339C>T (p.Leu113=)
22g.45293306A>CCA411879544UPK3Ac.697A>C (p.Ser233Arg)
c.334A>C (p.Ser112Arg)
c.703A>C (p.Ser235Arg)
c.340A>C (p.Ser114Arg)
22g.45293306A>GCA411879545UPK3Ac.697A>G (p.Ser233Gly)
c.334A>G (p.Ser112Gly)
c.703A>G (p.Ser235Gly)
c.340A>G (p.Ser114Gly)
22g.45293306A>TCA411879547UPK3Ac.697A>T (p.Ser233Cys)
c.334A>T (p.Ser112Cys)
c.703A>T (p.Ser235Cys)
c.340A>T (p.Ser114Cys)
22g.45293307G>ACA411879550UPK3Ac.698G>A (p.Ser233Asn)
c.335G>A (p.Ser112Asn)
c.704G>A (p.Ser235Asn)
c.341G>A (p.Ser114Asn)
22g.45293307G>CCA10284507UPK3Ac.698G>C (p.Ser233Thr)
c.335G>C (p.Ser112Thr)
c.704G>C (p.Ser235Thr)
c.341G>C (p.Ser114Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.45293307G=CA2408185450UPK3Ac.698G= (p.Ser233=)
c.335G= (p.Ser112=)
c.704G= (p.Ser235=)
c.341G= (p.Ser114=)
22g.45293307G>TCA411879553UPK3Ac.698G>T (p.Ser233Ile)
c.335G>T (p.Ser112Ile)
c.704G>T (p.Ser235Ile)
c.341G>T (p.Ser114Ile)
22g.45293308C>ACA411879555UPK3Ac.699C>A (p.Ser233Arg)
c.336C>A (p.Ser112Arg)
c.705C>A (p.Ser235Arg)
c.342C>A (p.Ser114Arg)
22g.45293308C=CA2408185451UPK3Ac.699C= (p.Ser233=)
c.336C= (p.Ser112=)
c.705C= (p.Ser235=)
c.342C= (p.Ser114=)
22g.45293308C>GCA411879556UPK3Ac.699C>G (p.Ser233Arg)
c.336C>G (p.Ser112Arg)
c.705C>G (p.Ser235Arg)
c.342C>G (p.Ser114Arg)
22g.45293308C>TCA514882776UPK3Ac.699C>T (p.Ser233=)
c.336C>T (p.Ser112=)
c.705C>T (p.Ser235=)
c.342C>T (p.Ser114=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.45293309C>ACA411879558UPK3Ac.700C>A (p.Leu234Ile)
c.337C>A (p.Leu113Ile)
c.706C>A (p.Leu236Ile)
c.343C>A (p.Leu115Ile)
22g.45293309C=CA2408185452UPK3Ac.700C= (p.Leu234=)
c.337C= (p.Leu113=)
c.706C= (p.Leu236=)
c.343C= (p.Leu115=)
22g.45293309C>GCA411879560UPK3Ac.700C>G (p.Leu234Val)
c.337C>G (p.Leu113Val)
c.706C>G (p.Leu236Val)
c.343C>G (p.Leu115Val)
22g.45293309C>TCA411879562UPK3Ac.700C>T (p.Leu234Phe)
c.337C>T (p.Leu113Phe)
c.706C>T (p.Leu236Phe)
c.343C>T (p.Leu115Phe)
 dbSNP
22g.45293310T>ACA411879564UPK3Ac.701T>A (p.Leu234His)
c.338T>A (p.Leu113His)
c.707T>A (p.Leu236His)
c.344T>A (p.Leu115His)
22g.45293310T>CCA411879565UPK3Ac.701T>C (p.Leu234Pro)
c.338T>C (p.Leu113Pro)
c.707T>C (p.Leu236Pro)
c.344T>C (p.Leu115Pro)
22g.45293310T>GCA411879568UPK3Ac.701T>G (p.Leu234Arg)
c.338T>G (p.Leu113Arg)
c.707T>G (p.Leu236Arg)
c.344T>G (p.Leu115Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.45293310T=CA2408185453UPK3Ac.701T= (p.Leu234=)
c.338T= (p.Leu113=)
c.707T= (p.Leu236=)
c.344T= (p.Leu115=)
22g.45293311C>ACA514882777UPK3Ac.702C>A (p.Leu234=)
c.339C>A (p.Leu113=)
c.708C>A (p.Leu236=)
c.345C>A (p.Leu115=)
 gnomAD v4
22g.45293311C=CA2408185454UPK3Ac.702C= (p.Leu234=)
c.339C= (p.Leu113=)
c.708C= (p.Leu236=)
c.345C= (p.Leu115=)
22g.45293311C>GCA514882778UPK3Ac.702C>G (p.Leu234=)
c.339C>G (p.Leu113=)
c.708C>G (p.Leu236=)
c.345C>G (p.Leu115=)
22g.45293311C>TCA325067405UPK3Ac.702C>T (p.Leu234=)
c.339C>T (p.Leu113=)
c.708C>T (p.Leu236=)
c.345C>T (p.Leu115=)
 dbSNP gnomAD v3 gnomAD v4
22g.45293312G>ACA10284508UPK3Ac.703G>A (p.Val235Met)
c.340G>A (p.Val114Met)
c.709G>A (p.Val237Met)
c.346G>A (p.Val116Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.45293312G>CCA411879571UPK3Ac.703G>C (p.Val235Leu)
c.340G>C (p.Val114Leu)
c.709G>C (p.Val237Leu)
c.346G>C (p.Val116Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.45293312G=CA2408185455UPK3Ac.703G= (p.Val235=)
c.340G= (p.Val114=)
c.709G= (p.Val237=)
c.346G= (p.Val116=)
22g.45293312G>TCA411879574UPK3Ac.703G>T (p.Val235Leu)
c.340G>T (p.Val114Leu)
c.709G>T (p.Val237Leu)
c.346G>T (p.Val116Leu)
 dbSNP gnomAD v4
22g.45293313T>ACA411879575UPK3Ac.704T>A (p.Val235Glu)
c.341T>A (p.Val114Glu)
c.710T>A (p.Val237Glu)
c.347T>A (p.Val116Glu)
22g.45293313T>CCA411879577UPK3Ac.704T>C (p.Val235Ala)
c.341T>C (p.Val114Ala)
c.710T>C (p.Val237Ala)
c.347T>C (p.Val116Ala)
22g.45293313T>GCA411879579UPK3Ac.704T>G (p.Val235Gly)
c.341T>G (p.Val114Gly)
c.710T>G (p.Val237Gly)
c.347T>G (p.Val116Gly)
22g.45293313dupCA2577748622UPK3Ac.704dup (p.Asp236GlyfsTer6)
c.341dup (p.Asp115GlyfsTer6)
c.710dup (p.Asp238GlyfsTer6)
c.347dup (p.Asp117GlyfsTer6)
22g.45293314G>ACA411879584UPK3Ac.704+1G>A (n.704+1G>A)
c.341+1G>A (n.341+1G>A)
c.710+1G>A (n.710+1G>A)
c.347+1G>A (n.347+1G>A)
22g.45293314G>CCA411879583UPK3Ac.704+1G>C (n.704+1G>C)
c.341+1G>C (n.341+1G>C)
c.710+1G>C (n.710+1G>C)
c.347+1G>C (n.347+1G>C)
22g.45293314G>TCA411879581UPK3Ac.704+1G>T (n.704+1G>T)
c.341+1G>T (n.341+1G>T)
c.710+1G>T (n.710+1G>T)
c.347+1G>T (n.347+1G>T)
22g.45293315T>ACA411879585UPK3Ac.704+2T>A (n.704+2T>A)
c.341+2T>A (n.341+2T>A)
c.710+2T>A (n.710+2T>A)
c.347+2T>A (n.347+2T>A)
22g.45293315T>CCA411879587UPK3Ac.704+2T>C (n.704+2T>C)
c.341+2T>C (n.341+2T>C)
c.710+2T>C (n.710+2T>C)
c.347+2T>C (n.347+2T>C)
22g.45293315T>GCA411879589UPK3Ac.704+2T>G (n.704+2T>G)
c.341+2T>G (n.341+2T>G)
c.710+2T>G (n.710+2T>G)
c.347+2T>G (n.347+2T>G)
22g.45293316A>GCA2577748623UPK3Ac.704+3A>G (n.704+3A>G)
c.341+3A>G (n.341+3A>G)
c.710+3A>G (n.710+3A>G)
c.347+3A>G (n.347+3A>G)
22g.45293317A=CA2408185457UPK3Ac.704+4A= (n.704+4A=)
c.341+4A= (n.341+4A=)
c.710+4A= (n.710+4A=)
c.347+4A= (n.347+4A=)
22g.45293317A>TCA2408185458UPK3Ac.704+4A>T (n.704+4A>T)
c.341+4A>T (n.341+4A>T)
c.710+4A>T (n.710+4A>T)
c.347+4A>T (n.347+4A>T)
 dbSNP gnomAD v4
22g.45293317_45293318delinsAGCA2408185456UPK3Ac.704+4_704+5delinsAG (n.704+4_704+5delinsAG)
c.341+4_341+5delinsAG (n.341+4_341+5delinsAG)
c.710+4_710+5delinsAG (n.710+4_710+5delinsAG)
c.347+4_347+5delinsAG (n.347+4_347+5delinsAG)
22g.45293318delCA10284509UPK3Ac.704+5del (n.704+5del)
c.341+5del (n.341+5del)
c.710+5del (n.710+5del)
c.347+5del (n.347+5del)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.45293319T>ACA2657267251UPK3Ac.704+6T>A (n.704+6T>A)
c.341+6T>A (n.341+6T>A)
c.710+6T>A (n.710+6T>A)
c.347+6T>A (n.347+6T>A)
 gnomAD v4
22g.45293321C>ACA10284510UPK3Ac.704+8C>A (n.704+8C>A)
c.341+8C>A (n.341+8C>A)
c.710+8C>A (n.710+8C>A)
c.347+8C>A (n.347+8C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.45293321C=CA2408185459UPK3Ac.704+8C= (n.704+8C=)
c.341+8C= (n.341+8C=)
c.710+8C= (n.710+8C=)
c.347+8C= (n.347+8C=)
22g.45293321C>GCA10284511UPK3Ac.704+8C>G (n.704+8C>G)
c.341+8C>G (n.341+8C>G)
c.710+8C>G (n.710+8C>G)
c.347+8C>G (n.347+8C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.45293321C>TCA2657267252UPK3Ac.704+8C>T (n.704+8C>T)
c.341+8C>T (n.341+8C>T)
c.710+8C>T (n.710+8C>T)
c.347+8C>T (n.347+8C>T)
 gnomAD v4

Number of alleles fetched