Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20348614C>ACA394985099UMODc.687G>T (p.Met229Ile)
c.786G>T (p.Met262Ile)
c.834G>T (p.Met278Ile)
c.771G>T (p.Met257Ile)
n.912G>T
16g.20348614C>GCA394985100UMODc.687G>C (p.Met229Ile)
c.786G>C (p.Met262Ile)
c.834G>C (p.Met278Ile)
c.771G>C (p.Met257Ile)
n.912G>C
16g.20348614C>TCA394985101UMODc.687G>A (p.Met229Ile)
c.786G>A (p.Met262Ile)
c.834G>A (p.Met278Ile)
c.771G>A (p.Met257Ile)
n.912G>A
 gnomAD v4
16g.20348615A>CCA394985102UMODc.686T>G (p.Met229Arg)
c.785T>G (p.Met262Arg)
c.833T>G (p.Met278Arg)
c.770T>G (p.Met257Arg)
n.911T>G
16g.20348615A>GCA394985103UMODc.686T>C (p.Met229Thr)
c.785T>C (p.Met262Thr)
c.833T>C (p.Met278Thr)
c.770T>C (p.Met257Thr)
n.911T>C
 gnomAD v4
16g.20348615A>TCA394985105UMODc.686T>A (p.Met229Lys)
c.785T>A (p.Met262Lys)
c.833T>A (p.Met278Lys)
c.770T>A (p.Met257Lys)
n.911T>A
16g.20348616T>ACA7939420UMODc.685A>T (p.Met229Leu)
c.784A>T (p.Met262Leu)
c.832A>T (p.Met278Leu)
c.769A>T (p.Met257Leu)
n.910A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348616T>CCA394985108UMODc.685A>G (p.Met229Val)
c.784A>G (p.Met262Val)
c.832A>G (p.Met278Val)
c.769A>G (p.Met257Val)
n.910A>G
 gnomAD v4
16g.20348616T>GCA394985109UMODc.685A>C (p.Met229Leu)
c.784A>C (p.Met262Leu)
c.832A>C (p.Met278Leu)
c.769A>C (p.Met257Leu)
n.910A>C
16g.20348616T=CA2211942280UMODc.685A= (p.Met229=)
c.784A= (p.Met262=)
c.832A= (p.Met278=)
c.769A= (p.Met257=)
n.910A=
16g.20348617G>ACA494097278UMODc.684C>T (p.Pro228=)
c.783C>T (p.Pro261=)
c.831C>T (p.Pro277=)
c.768C>T (p.Pro256=)
n.909C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348617G>CCA7939421UMODc.684C>G (p.Pro228=)
c.783C>G (p.Pro261=)
c.831C>G (p.Pro277=)
c.768C>G (p.Pro256=)
n.909C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348617G=CA2211942285UMODc.684C= (p.Pro228=)
c.783C= (p.Pro261=)
c.831C= (p.Pro277=)
c.768C= (p.Pro256=)
n.909C=
16g.20348617G>TCA494097281UMODc.684C>A (p.Pro228=)
c.783C>A (p.Pro261=)
c.831C>A (p.Pro277=)
c.768C>A (p.Pro256=)
n.909C>A
 gnomAD v4
16g.20348621delCA2632115222UMODc.684del (p.Met229CysfsTer15)
c.783del (p.Met262CysfsTer15)
c.831del (p.Met278CysfsTer15)
c.768del (p.Met257CysfsTer15)
n.909del
 gnomAD v4
16g.20348618G>ACA394985114UMODc.683C>T (p.Pro228Leu)
c.782C>T (p.Pro261Leu)
c.830C>T (p.Pro277Leu)
c.767C>T (p.Pro256Leu)
n.908C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348618G>CCA394985111UMODc.683C>G (p.Pro228Arg)
c.782C>G (p.Pro261Arg)
c.830C>G (p.Pro277Arg)
c.767C>G (p.Pro256Arg)
n.908C>G
 ClinVar dbSNP gnomAD v2
16g.20348618G=CA2211942288UMODc.683C= (p.Pro228=)
c.782C= (p.Pro261=)
c.830C= (p.Pro277=)
c.767C= (p.Pro256=)
n.908C=
16g.20348618G>TCA394985113UMODc.683C>A (p.Pro228His)
c.782C>A (p.Pro261His)
c.830C>A (p.Pro277His)
c.767C>A (p.Pro256His)
n.908C>A
 gnomAD v4
16g.20348619G>ACA394985115UMODc.682C>T (p.Pro228Ser)
c.781C>T (p.Pro261Ser)
c.829C>T (p.Pro277Ser)
c.766C>T (p.Pro256Ser)
n.907C>T
 gnomAD v4
16g.20348619G>CCA394985116UMODc.682C>G (p.Pro228Ala)
c.781C>G (p.Pro261Ala)
c.829C>G (p.Pro277Ala)
c.766C>G (p.Pro256Ala)
n.907C>G
16g.20348619G>TCA394985117UMODc.682C>A (p.Pro228Thr)
c.781C>A (p.Pro261Thr)
c.829C>A (p.Pro277Thr)
c.766C>A (p.Pro256Thr)
n.907C>A
 gnomAD v4
16g.20348620G>ACA494097287UMODc.681C>T (p.Ala227=)
c.780C>T (p.Ala260=)
c.828C>T (p.Ala276=)
c.765C>T (p.Ala255=)
n.906C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348620G>CCA494097286UMODc.681C>G (p.Ala227=)
c.780C>G (p.Ala260=)
c.828C>G (p.Ala276=)
c.765C>G (p.Ala255=)
n.906C>G
16g.20348620G=CA2211942295UMODc.681C= (p.Ala227=)
c.780C= (p.Ala260=)
c.828C= (p.Ala276=)
c.765C= (p.Ala255=)
n.906C=
16g.20348620G>TCA494097285UMODc.681C>A (p.Ala227=)
c.780C>A (p.Ala260=)
c.828C>A (p.Ala276=)
c.765C>A (p.Ala255=)
n.906C>A
 gnomAD v4
16g.20348621G>ACA394985118UMODc.680C>T (p.Ala227Val)
c.779C>T (p.Ala260Val)
c.827C>T (p.Ala276Val)
c.764C>T (p.Ala255Val)
n.905C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348621G>CCA394985120UMODc.680C>G (p.Ala227Gly)
c.779C>G (p.Ala260Gly)
c.827C>G (p.Ala276Gly)
c.764C>G (p.Ala255Gly)
n.905C>G
16g.20348621G=CA2211942300UMODc.680C= (p.Ala227=)
c.779C= (p.Ala260=)
c.827C= (p.Ala276=)
c.764C= (p.Ala255=)
n.905C=
16g.20348621G>TCA394985121UMODc.680C>A (p.Ala227Asp)
c.779C>A (p.Ala260Asp)
c.827C>A (p.Ala276Asp)
c.764C>A (p.Ala255Asp)
n.905C>A
 gnomAD v4
16g.20348622C>ACA394985123UMODc.679G>T (p.Ala227Ser)
c.778G>T (p.Ala260Ser)
c.826G>T (p.Ala276Ser)
c.763G>T (p.Ala255Ser)
n.904G>T
 gnomAD v4
16g.20348622C>GCA394985125UMODc.679G>C (p.Ala227Pro)
c.778G>C (p.Ala260Pro)
c.826G>C (p.Ala276Pro)
c.763G>C (p.Ala255Pro)
n.904G>C
 ClinVar
16g.20348622C>TCA394985126UMODc.679G>A (p.Ala227Thr)
c.778G>A (p.Ala260Thr)
c.826G>A (p.Ala276Thr)
c.763G>A (p.Ala255Thr)
n.904G>A
 gnomAD v4
16g.20348623G>ACA494097297UMODc.678C>T (p.Ala226=)
c.777C>T (p.Ala259=)
c.825C>T (p.Ala275=)
c.762C>T (p.Ala254=)
n.903C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348623G>CCA494097298UMODc.678C>G (p.Ala226=)
c.777C>G (p.Ala259=)
c.825C>G (p.Ala275=)
c.762C>G (p.Ala254=)
n.903C>G
16g.20348623G=CA2211942306UMODc.678C= (p.Ala226=)
c.777C= (p.Ala259=)
c.825C= (p.Ala275=)
c.762C= (p.Ala254=)
n.903C=
16g.20348623G>TCA494097299UMODc.678C>A (p.Ala226=)
c.777C>A (p.Ala259=)
c.825C>A (p.Ala275=)
c.762C>A (p.Ala254=)
n.903C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348624delCA2575933283UMODc.678del (p.Ala227ProfsTer17)
c.777del (p.Ala260ProfsTer17)
c.825del (p.Ala276ProfsTer17)
c.762del (p.Ala255ProfsTer17)
n.903del
16g.20348624G>ACA394985127UMODc.677C>T (p.Ala226Val)
c.776C>T (p.Ala259Val)
c.824C>T (p.Ala275Val)
c.761C>T (p.Ala254Val)
n.902C>T
 gnomAD v4
16g.20348624G>CCA394985128UMODc.677C>G (p.Ala226Gly)
c.776C>G (p.Ala259Gly)
c.824C>G (p.Ala275Gly)
c.761C>G (p.Ala254Gly)
n.902C>G
16g.20348624G>TCA394985130UMODc.677C>A (p.Ala226Asp)
c.776C>A (p.Ala259Asp)
c.824C>A (p.Ala275Asp)
c.761C>A (p.Ala254Asp)
n.902C>A
 gnomAD v4
16g.20348625C>ACA394985132UMODc.676G>T (p.Ala226Ser)
c.775G>T (p.Ala259Ser)
c.823G>T (p.Ala275Ser)
c.760G>T (p.Ala254Ser)
n.901G>T
 gnomAD v4
16g.20348625C>GCA394985134UMODc.676G>C (p.Ala226Pro)
c.775G>C (p.Ala259Pro)
c.823G>C (p.Ala275Pro)
c.760G>C (p.Ala254Pro)
n.901G>C
16g.20348625C>TCA394985133UMODc.676G>A (p.Ala226Thr)
c.775G>A (p.Ala259Thr)
c.823G>A (p.Ala275Thr)
c.760G>A (p.Ala254Thr)
n.901G>A
 gnomAD v4
16g.20348626C>ACA279299725UMODc.675G>T (p.Thr225=)
c.774G>T (p.Thr258=)
c.822G>T (p.Thr274=)
c.759G>T (p.Thr253=)
n.900G>T
 dbSNP gnomAD v4
16g.20348626C=CA2211942312UMODc.675G= (p.Thr225=)
c.774G= (p.Thr258=)
c.822G= (p.Thr274=)
c.759G= (p.Thr253=)
n.900G=
16g.20348626C>GCA494097305UMODc.675G>C (p.Thr225=)
c.774G>C (p.Thr258=)
c.822G>C (p.Thr274=)
c.759G>C (p.Thr253=)
n.900G>C
16g.20348626C>TCA279299715UMODc.675G>A (p.Thr225=)
c.774G>A (p.Thr258=)
c.822G>A (p.Thr274=)
c.759G>A (p.Thr253=)
n.900G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348627G>ACA394985135UMODc.674C>T (p.Thr225Met)
c.773C>T (p.Thr258Met)
c.821C>T (p.Thr274Met)
c.758C>T (p.Thr253Met)
n.899C>T
 ClinVar gnomAD v4
16g.20348627G>CCA394985138UMODc.674C>G (p.Thr225Arg)
c.773C>G (p.Thr258Arg)
c.821C>G (p.Thr274Arg)
c.758C>G (p.Thr253Arg)
n.899C>G
16g.20348627G>TCA394985136UMODc.674C>A (p.Thr225Lys)
c.773C>A (p.Thr258Lys)
c.821C>A (p.Thr274Lys)
c.758C>A (p.Thr253Lys)
n.899C>A
 gnomAD v4
16g.20348628T>ACA394985139UMODc.673A>T (p.Thr225Ser)
c.772A>T (p.Thr258Ser)
c.820A>T (p.Thr274Ser)
c.757A>T (p.Thr253Ser)
n.898A>T
16g.20348628T>CCA394985142UMODc.673A>G (p.Thr225Ala)
c.772A>G (p.Thr258Ala)
c.820A>G (p.Thr274Ala)
c.757A>G (p.Thr253Ala)
n.898A>G
16g.20348628T>GCA394985141UMODc.673A>C (p.Thr225Pro)
c.772A>C (p.Thr258Pro)
c.820A>C (p.Thr274Pro)
c.757A>C (p.Thr253Pro)
n.898A>C
16g.20348629G>ACA494097314UMODc.672C>T (p.Asn224=)
c.771C>T (p.Asn257=)
c.819C>T (p.Asn273=)
c.756C>T (p.Asn252=)
n.897C>T
16g.20348629G>CCA394985143UMODc.672C>G (p.Asn224Lys)
c.771C>G (p.Asn257Lys)
c.819C>G (p.Asn273Lys)
c.756C>G (p.Asn252Lys)
n.897C>G
16g.20348629G=CA2211942315UMODc.672C= (p.Asn224=)
c.771C= (p.Asn257=)
c.819C= (p.Asn273=)
c.756C= (p.Asn252=)
n.897C=
16g.20348629G>TCA279299729UMODc.672C>A (p.Asn224Lys)
c.771C>A (p.Asn257Lys)
c.819C>A (p.Asn273Lys)
c.756C>A (p.Asn252Lys)
n.897C>A
 dbSNP gnomAD v4 COSMIC COSMIC
16g.20348630T>ACA394985145UMODc.671A>T (p.Asn224Ile)
c.770A>T (p.Asn257Ile)
c.818A>T (p.Asn273Ile)
c.755A>T (p.Asn252Ile)
n.896A>T
 gnomAD v4
16g.20348630T>CCA394985147UMODc.671A>G (p.Asn224Ser)
c.770A>G (p.Asn257Ser)
c.818A>G (p.Asn273Ser)
c.755A>G (p.Asn252Ser)
n.896A>G
 gnomAD v4 COSMIC COSMIC
16g.20348630T>GCA394985148UMODc.671A>C (p.Asn224Thr)
c.770A>C (p.Asn257Thr)
c.818A>C (p.Asn273Thr)
c.755A>C (p.Asn252Thr)
n.896A>C
16g.20348631T>ACA394985149UMODc.670A>T (p.Asn224Tyr)
c.769A>T (p.Asn257Tyr)
c.817A>T (p.Asn273Tyr)
c.754A>T (p.Asn252Tyr)
n.895A>T
 gnomAD v4
16g.20348631T>CCA394985150UMODc.670A>G (p.Asn224Asp)
c.769A>G (p.Asn257Asp)
c.817A>G (p.Asn273Asp)
c.754A>G (p.Asn252Asp)
n.895A>G
16g.20348631T>GCA394985152UMODc.670A>C (p.Asn224His)
c.769A>C (p.Asn257His)
c.817A>C (p.Asn273His)
c.754A>C (p.Asn252His)
n.895A>C
16g.20348632G>ACA494097319UMODc.669C>T (p.Cys223=)
c.768C>T (p.Cys256=)
c.816C>T (p.Cys272=)
c.753C>T (p.Cys251=)
n.894C>T
 gnomAD v4
16g.20348632G>CCA394985154UMODc.669C>G (p.Cys223Trp)
c.768C>G (p.Cys256Trp)
c.816C>G (p.Cys272Trp)
c.753C>G (p.Cys251Trp)
n.894C>G
16g.20348632G>TCA394985155UMODc.669C>A (p.Cys223Ter)
c.768C>A (p.Cys256Ter)
c.816C>A (p.Cys272Ter)
c.753C>A (p.Cys251Ter)
n.894C>A
 gnomAD v4
16g.20348633C>ACA394985159UMODc.668G>T (p.Cys223Phe)
c.767G>T (p.Cys256Phe)
c.815G>T (p.Cys272Phe)
c.752G>T (p.Cys251Phe)
n.893G>T
 gnomAD v4
16g.20348633C>GCA394985158UMODc.668G>C (p.Cys223Ser)
c.767G>C (p.Cys256Ser)
c.815G>C (p.Cys272Ser)
c.752G>C (p.Cys251Ser)
n.893G>C
 gnomAD v4
16g.20348633C>TCA394985157UMODc.668G>A (p.Cys223Tyr)
c.767G>A (p.Cys256Tyr)
c.815G>A (p.Cys272Tyr)
c.752G>A (p.Cys251Tyr)
n.893G>A
 gnomAD v4
16g.20348634A>CCA394985161UMODc.667T>G (p.Cys223Gly)
c.766T>G (p.Cys256Gly)
c.814T>G (p.Cys272Gly)
c.751T>G (p.Cys251Gly)
n.892T>G
16g.20348634A>GCA394985162UMODc.667T>C (p.Cys223Arg)
c.766T>C (p.Cys256Arg)
c.814T>C (p.Cys272Arg)
c.751T>C (p.Cys251Arg)
n.892T>C
 gnomAD v4
16g.20348634A>TCA394985164UMODc.667T>A (p.Cys223Ser)
c.766T>A (p.Cys256Ser)
c.814T>A (p.Cys272Ser)
c.751T>A (p.Cys251Ser)
n.892T>A
16g.20348635G>ACA494097327UMODc.666C>T (p.Arg222=)
c.765C>T (p.Arg255=)
c.813C>T (p.Arg271=)
c.750C>T (p.Arg250=)
n.891C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348635G>CCA494097326UMODc.666C>G (p.Arg222=)
c.765C>G (p.Arg255=)
c.813C>G (p.Arg271=)
c.750C>G (p.Arg250=)
n.891C>G
16g.20348635G=CA2211942321UMODc.666C= (p.Arg222=)
c.765C= (p.Arg255=)
c.813C= (p.Arg271=)
c.750C= (p.Arg250=)
n.891C=
16g.20348635G>TCA494097325UMODc.666C>A (p.Arg222=)
c.765C>A (p.Arg255=)
c.813C>A (p.Arg271=)
c.750C>A (p.Arg250=)
n.891C>A
 gnomAD v4
16g.20348636C>ACA394985165UMODc.665G>T (p.Arg222Leu)
c.764G>T (p.Arg255Leu)
c.812G>T (p.Arg271Leu)
c.749G>T (p.Arg250Leu)
n.890G>T
 gnomAD v4
16g.20348636C>GCA394985166UMODc.665G>C (p.Arg222Pro)
c.764G>C (p.Arg255Pro)
c.812G>C (p.Arg271Pro)
c.749G>C (p.Arg250Pro)
n.890G>C
 gnomAD v4
16g.20348636C>TCA394985167UMODc.665G>A (p.Arg222His)
c.764G>A (p.Arg255His)
c.812G>A (p.Arg271His)
c.749G>A (p.Arg250His)
n.890G>A
 gnomAD v4
16g.20348637G>ACA394985169UMODc.664C>T (p.Arg222Cys)
c.763C>T (p.Arg255Cys)
c.811C>T (p.Arg271Cys)
c.748C>T (p.Arg250Cys)
n.889C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348637G>CCA394985171UMODc.664C>G (p.Arg222Gly)
c.763C>G (p.Arg255Gly)
c.811C>G (p.Arg271Gly)
c.748C>G (p.Arg250Gly)
n.889C>G
 gnomAD v4
16g.20348637G=CA2211942325UMODc.664C= (p.Arg222=)
c.763C= (p.Arg255=)
c.811C= (p.Arg271=)
c.748C= (p.Arg250=)
n.889C=
16g.20348637G>TCA394985172UMODc.664C>A (p.Arg222Ser)
c.763C>A (p.Arg255Ser)
c.811C>A (p.Arg271Ser)
c.748C>A (p.Arg250Ser)
n.889C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348638C>ACA494097330UMODc.663G>T (p.Leu221=)
c.762G>T (p.Leu254=)
c.810G>T (p.Leu270=)
c.747G>T (p.Leu249=)
n.888G>T
 gnomAD v4
16g.20348638C>GCA494097332UMODc.663G>C (p.Leu221=)
c.762G>C (p.Leu254=)
c.810G>C (p.Leu270=)
c.747G>C (p.Leu249=)
n.888G>C
16g.20348638C>TCA494097334UMODc.663G>A (p.Leu221=)
c.762G>A (p.Leu254=)
c.810G>A (p.Leu270=)
c.747G>A (p.Leu249=)
n.888G>A
16g.20348639A>CCA394985173UMODc.662T>G (p.Leu221Arg)
c.761T>G (p.Leu254Arg)
c.809T>G (p.Leu270Arg)
c.746T>G (p.Leu249Arg)
n.887T>G
16g.20348639A>GCA394985175UMODc.662T>C (p.Leu221Pro)
c.761T>C (p.Leu254Pro)
c.809T>C (p.Leu270Pro)
c.746T>C (p.Leu249Pro)
n.887T>C
 gnomAD v4
16g.20348639A>TCA394985176UMODc.662T>A (p.Leu221Gln)
c.761T>A (p.Leu254Gln)
c.809T>A (p.Leu270Gln)
c.746T>A (p.Leu249Gln)
n.887T>A
16g.20348640G>ACA494097340UMODc.661C>T (p.Leu221=)
c.760C>T (p.Leu254=)
c.808C>T (p.Leu270=)
c.745C>T (p.Leu249=)
n.886C>T
 gnomAD v4
16g.20348640G>CCA394985178UMODc.661C>G (p.Leu221Val)
c.760C>G (p.Leu254Val)
c.808C>G (p.Leu270Val)
c.745C>G (p.Leu249Val)
n.886C>G
16g.20348640G>TCA394985180UMODc.661C>A (p.Leu221Met)
c.760C>A (p.Leu254Met)
c.808C>A (p.Leu270Met)
c.745C>A (p.Leu249Met)
n.886C>A
 gnomAD v4
16g.20348640_20348738delCA2695222874UMODc.563_661del (p.Glu188_Leu221delinsVal)
c.662_760del (p.Glu221_Leu254delinsVal)
c.710_808del (p.Glu237_Leu270delinsVal)
c.647_745del (p.Glu216_Leu249delinsVal)
n.788_886del
16g.20348641G>ACA494097343UMODc.660C>T (p.Val220=)
c.759C>T (p.Val253=)
c.807C>T (p.Val269=)
c.744C>T (p.Val248=)
n.885C>T
 gnomAD v4
16g.20348641G>CCA494097345UMODc.660C>G (p.Val220=)
c.759C>G (p.Val253=)
c.807C>G (p.Val269=)
c.744C>G (p.Val248=)
n.885C>G
16g.20348641G>TCA494097347UMODc.660C>A (p.Val220=)
c.759C>A (p.Val253=)
c.807C>A (p.Val269=)
c.744C>A (p.Val248=)
n.885C>A
 gnomAD v4
16g.20348642A=CA2211942329UMODc.659T= (p.Val220=)
c.758T= (p.Val253=)
c.806T= (p.Val269=)
c.743T= (p.Val248=)
n.884T=
16g.20348642A>CCA394985181UMODc.659T>G (p.Val220Gly)
c.758T>G (p.Val253Gly)
c.806T>G (p.Val269Gly)
c.743T>G (p.Val248Gly)
n.884T>G
16g.20348642A>GCA394985182UMODc.659T>C (p.Val220Ala)
c.758T>C (p.Val253Ala)
c.806T>C (p.Val269Ala)
c.743T>C (p.Val248Ala)
n.884T>C
 dbSNP gnomAD v4
16g.20348642A>TCA394985184UMODc.659T>A (p.Val220Asp)
c.758T>A (p.Val253Asp)
c.806T>A (p.Val269Asp)
c.743T>A (p.Val248Asp)
n.884T>A
 gnomAD v4
16g.20348643C>ACA394985185UMODc.658G>T (p.Val220Phe)
c.757G>T (p.Val253Phe)
c.805G>T (p.Val269Phe)
c.742G>T (p.Val248Phe)
n.883G>T
 gnomAD v4
16g.20348643C>GCA394985187UMODc.658G>C (p.Val220Leu)
c.757G>C (p.Val253Leu)
c.805G>C (p.Val269Leu)
c.742G>C (p.Val248Leu)
n.883G>C
16g.20348643C>TCA394985188UMODc.658G>A (p.Val220Ile)
c.757G>A (p.Val253Ile)
c.805G>A (p.Val269Ile)
c.742G>A (p.Val248Ile)
n.883G>A
 gnomAD v4
16g.20348644T>ACA494097356UMODc.657A>T (p.Pro219=)
c.756A>T (p.Pro252=)
c.804A>T (p.Pro268=)
c.741A>T (p.Pro247=)
n.882A>T
16g.20348644T>CCA494097357UMODc.657A>G (p.Pro219=)
c.756A>G (p.Pro252=)
c.804A>G (p.Pro268=)
c.741A>G (p.Pro247=)
n.882A>G
 gnomAD v4
16g.20348644T>GCA494097358UMODc.657A>C (p.Pro219=)
c.756A>C (p.Pro252=)
c.804A>C (p.Pro268=)
c.741A>C (p.Pro247=)
n.882A>C
16g.20348645G>ACA7939422UMODc.656C>T (p.Pro219Leu)
c.755C>T (p.Pro252Leu)
c.803C>T (p.Pro268Leu)
c.740C>T (p.Pro247Leu)
n.881C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348645G>CCA394985190UMODc.656C>G (p.Pro219Arg)
c.755C>G (p.Pro252Arg)
c.803C>G (p.Pro268Arg)
c.740C>G (p.Pro247Arg)
n.881C>G
16g.20348645G=CA2211942335UMODc.656C= (p.Pro219=)
c.755C= (p.Pro252=)
c.803C= (p.Pro268=)
c.740C= (p.Pro247=)
n.881C=
16g.20348645G>TCA394985191UMODc.656C>A (p.Pro219Gln)
c.755C>A (p.Pro252Gln)
c.803C>A (p.Pro268Gln)
c.740C>A (p.Pro247Gln)
n.881C>A
 gnomAD v4
16g.20348646G>ACA394985192UMODc.655C>T (p.Pro219Ser)
c.754C>T (p.Pro252Ser)
c.802C>T (p.Pro268Ser)
c.739C>T (p.Pro247Ser)
n.880C>T
 gnomAD v4
16g.20348646G>CCA7939423UMODc.655C>G (p.Pro219Ala)
c.754C>G (p.Pro252Ala)
c.802C>G (p.Pro268Ala)
c.739C>G (p.Pro247Ala)
n.880C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348646G=CA2211942337UMODc.655C= (p.Pro219=)
c.754C= (p.Pro252=)
c.802C= (p.Pro268=)
c.739C= (p.Pro247=)
n.880C=
16g.20348646G>TCA394985194UMODc.655C>A (p.Pro219Thr)
c.754C>A (p.Pro252Thr)
c.802C>A (p.Pro268Thr)
c.739C>A (p.Pro247Thr)
n.880C>A
 gnomAD v4
16g.20348647C>ACA494097369UMODc.654G>T (p.Val218=)
c.753G>T (p.Val251=)
c.801G>T (p.Val267=)
c.738G>T (p.Val246=)
n.879G>T
 gnomAD v4
16g.20348647C>GCA494097371UMODc.654G>C (p.Val218=)
c.753G>C (p.Val251=)
c.801G>C (p.Val267=)
c.738G>C (p.Val246=)
n.879G>C
16g.20348647C>TCA494097370UMODc.654G>A (p.Val218=)
c.753G>A (p.Val251=)
c.801G>A (p.Val267=)
c.738G>A (p.Val246=)
n.879G>A
 gnomAD v3 gnomAD v4
16g.20348648A>CCA394985200UMODc.653T>G (p.Val218Gly)
c.752T>G (p.Val251Gly)
c.800T>G (p.Val267Gly)
c.737T>G (p.Val246Gly)
n.878T>G
16g.20348648A>GCA394985196UMODc.653T>C (p.Val218Ala)
c.752T>C (p.Val251Ala)
c.800T>C (p.Val267Ala)
c.737T>C (p.Val246Ala)
n.878T>C
 gnomAD v4
16g.20348648A>TCA394985198UMODc.653T>A (p.Val218Glu)
c.752T>A (p.Val251Glu)
c.800T>A (p.Val267Glu)
c.737T>A (p.Val246Glu)
n.878T>A
16g.20348649C>ACA394985202UMODc.652G>T (p.Val218Leu)
c.751G>T (p.Val251Leu)
c.799G>T (p.Val267Leu)
c.736G>T (p.Val246Leu)
n.877G>T
 gnomAD v4
16g.20348649C=CA2211942339UMODc.652G= (p.Val218=)
c.751G= (p.Val251=)
c.799G= (p.Val267=)
c.736G= (p.Val246=)
n.877G=
16g.20348649C>GCA394985203UMODc.652G>C (p.Val218Leu)
c.751G>C (p.Val251Leu)
c.799G>C (p.Val267Leu)
c.736G>C (p.Val246Leu)
n.877G>C
16g.20348649C>TCA394985204UMODc.652G>A (p.Val218Met)
c.751G>A (p.Val251Met)
c.799G>A (p.Val267Met)
c.736G>A (p.Val246Met)
n.877G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348650G>ACA494097380UMODc.651C>T (p.Cys217=)
c.750C>T (p.Cys250=)
c.798C>T (p.Cys266=)
c.735C>T (p.Cys245=)
n.876C>T
 dbSNP gnomAD v4
16g.20348650G>CCA394985206UMODc.651C>G (p.Cys217Trp)
c.750C>G (p.Cys250Trp)
c.798C>G (p.Cys266Trp)
c.735C>G (p.Cys245Trp)
n.876C>G
 ClinVar dbSNP
16g.20348650G=CA2211942343UMODc.651C= (p.Cys217=)
c.750C= (p.Cys250=)
c.798C= (p.Cys266=)
c.735C= (p.Cys245=)
n.876C=
16g.20348650G>TCA394985208UMODc.651C>A (p.Cys217Ter)
c.750C>A (p.Cys250Ter)
c.798C>A (p.Cys266Ter)
c.735C>A (p.Cys245Ter)
n.876C>A
 dbSNP gnomAD v4
16g.20348651C>ACA394985209UMODc.650G>T (p.Cys217Phe)
c.749G>T (p.Cys250Phe)
c.797G>T (p.Cys266Phe)
c.734G>T (p.Cys245Phe)
n.875G>T
 gnomAD v4
16g.20348651C>GCA394985210UMODc.650G>C (p.Cys217Ser)
c.749G>C (p.Cys250Ser)
c.797G>C (p.Cys266Ser)
c.734G>C (p.Cys245Ser)
n.875G>C
16g.20348651C>TCA394985211UMODc.650G>A (p.Cys217Tyr)
c.749G>A (p.Cys250Tyr)
c.797G>A (p.Cys266Tyr)
c.734G>A (p.Cys245Tyr)
n.875G>A
 gnomAD v4
16g.20348652A=CA2211942356UMODc.649T= (p.Cys217=)
c.748T= (p.Cys250=)
c.796T= (p.Cys266=)
c.733T= (p.Cys245=)
n.874T=
16g.20348652A>CCA261112UMODc.649T>G (p.Cys217Gly)
c.748T>G (p.Cys250Gly)
c.796T>G (p.Cys266Gly)
c.733T>G (p.Cys245Gly)
n.874T>G
 ClinVar dbSNP
16g.20348652A>GCA256240UMODc.649T>C (p.Cys217Arg)
c.748T>C (p.Cys250Arg)
c.796T>C (p.Cys266Arg)
c.733T>C (p.Cys245Arg)
n.874T>C
 ClinVar dbSNP gnomAD v4
16g.20348652A>TCA394985213UMODc.649T>A (p.Cys217Ser)
c.748T>A (p.Cys250Ser)
c.796T>A (p.Cys266Ser)
c.733T>A (p.Cys245Ser)
n.874T>A
16g.20348653G>ACA279299751UMODc.648C>T (p.Thr216=)
c.747C>T (p.Thr249=)
c.795C>T (p.Thr265=)
c.732C>T (p.Thr244=)
n.873C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348653G>CCA494097386UMODc.648C>G (p.Thr216=)
c.747C>G (p.Thr249=)
c.795C>G (p.Thr265=)
c.732C>G (p.Thr244=)
n.873C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348653G=CA2211942365UMODc.648C= (p.Thr216=)
c.747C= (p.Thr249=)
c.795C= (p.Thr265=)
c.732C= (p.Thr244=)
n.873C=
16g.20348653G>TCA494097388UMODc.648C>A (p.Thr216=)
c.747C>A (p.Thr249=)
c.795C>A (p.Thr265=)
c.732C>A (p.Thr244=)
n.873C>A
 gnomAD v4
16g.20348654G>ACA394985216UMODc.647C>T (p.Thr216Ile)
c.746C>T (p.Thr249Ile)
c.794C>T (p.Thr265Ile)
c.731C>T (p.Thr244Ile)
n.872C>T
16g.20348654G>CCA394985215UMODc.647C>G (p.Thr216Ser)
c.746C>G (p.Thr249Ser)
c.794C>G (p.Thr265Ser)
c.731C>G (p.Thr244Ser)
n.872C>G
16g.20348654G=CA2211942369UMODc.647C= (p.Thr216=)
c.746C= (p.Thr249=)
c.794C= (p.Thr265=)
c.731C= (p.Thr244=)
n.872C=
16g.20348654G>TCA394985214UMODc.647C>A (p.Thr216Asn)
c.746C>A (p.Thr249Asn)
c.794C>A (p.Thr265Asn)
c.731C>A (p.Thr244Asn)
n.872C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348655T>ACA394985218UMODc.646A>T (p.Thr216Ser)
c.745A>T (p.Thr249Ser)
c.793A>T (p.Thr265Ser)
c.730A>T (p.Thr244Ser)
n.871A>T
16g.20348655T>CCA394985221UMODc.646A>G (p.Thr216Ala)
c.745A>G (p.Thr249Ala)
c.793A>G (p.Thr265Ala)
c.730A>G (p.Thr244Ala)
n.871A>G
16g.20348655T>GCA394985220UMODc.646A>C (p.Thr216Pro)
c.745A>C (p.Thr249Pro)
c.793A>C (p.Thr265Pro)
c.730A>C (p.Thr244Pro)
n.871A>C
16g.20348656C>ACA394985223UMODc.645G>T (p.Glu215Asp)
c.744G>T (p.Glu248Asp)
c.792G>T (p.Glu264Asp)
c.729G>T (p.Glu243Asp)
n.870G>T
 gnomAD v4 COSMIC COSMIC
16g.20348656C=CA2211942371UMODc.645G= (p.Glu215=)
c.744G= (p.Glu248=)
c.792G= (p.Glu264=)
c.729G= (p.Glu243=)
n.870G=
16g.20348656C>GCA394985224UMODc.645G>C (p.Glu215Asp)
c.744G>C (p.Glu248Asp)
c.792G>C (p.Glu264Asp)
c.729G>C (p.Glu243Asp)
n.870G>C
16g.20348656C>TCA494097397UMODc.645G>A (p.Glu215=)
c.744G>A (p.Glu248=)
c.792G>A (p.Glu264=)
c.729G>A (p.Glu243=)
n.870G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348657T>ACA394985225UMODc.644A>T (p.Glu215Val)
c.743A>T (p.Glu248Val)
c.791A>T (p.Glu264Val)
c.728A>T (p.Glu243Val)
n.869A>T
16g.20348657T>CCA394985227UMODc.644A>G (p.Glu215Gly)
c.743A>G (p.Glu248Gly)
c.791A>G (p.Glu264Gly)
c.728A>G (p.Glu243Gly)
n.869A>G
 dbSNP gnomAD v4
16g.20348657T>GCA394985228UMODc.644A>C (p.Glu215Ala)
c.743A>C (p.Glu248Ala)
c.791A>C (p.Glu264Ala)
c.728A>C (p.Glu243Ala)
n.869A>C
16g.20348657T=CA2211942372UMODc.644A= (p.Glu215=)
c.743A= (p.Glu248=)
c.791A= (p.Glu264=)
c.728A= (p.Glu243=)
n.869A=
16g.20348658C>ACA394985230UMODc.643G>T (p.Glu215Ter)
c.742G>T (p.Glu248Ter)
c.790G>T (p.Glu264Ter)
c.727G>T (p.Glu243Ter)
n.868G>T
 gnomAD v4
16g.20348658C=CA2211942375UMODc.643G= (p.Glu215=)
c.742G= (p.Glu248=)
c.790G= (p.Glu264=)
c.727G= (p.Glu243=)
n.868G=
16g.20348658C>GCA394985231UMODc.643G>C (p.Glu215Gln)
c.742G>C (p.Glu248Gln)
c.790G>C (p.Glu264Gln)
c.727G>C (p.Glu243Gln)
n.868G>C
 dbSNP gnomAD v4
16g.20348658C>TCA394985232UMODc.643G>A (p.Glu215Lys)
c.742G>A (p.Glu248Lys)
c.790G>A (p.Glu264Lys)
c.727G>A (p.Glu243Lys)
n.868G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348659G>ACA494097403UMODc.642C>T (p.Ala214=)
c.741C>T (p.Ala247=)
c.789C>T (p.Ala263=)
c.726C>T (p.Ala242=)
n.867C>T
 gnomAD v4
16g.20348659G>CCA7939424UMODc.642C>G (p.Ala214=)
c.741C>G (p.Ala247=)
c.789C>G (p.Ala263=)
c.726C>G (p.Ala242=)
n.867C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348659G=CA2211942379UMODc.642C= (p.Ala214=)
c.741C= (p.Ala247=)
c.789C= (p.Ala263=)
c.726C= (p.Ala242=)
n.867C=
16g.20348659G>TCA279299758UMODc.642C>A (p.Ala214=)
c.741C>A (p.Ala247=)
c.789C>A (p.Ala263=)
c.726C>A (p.Ala242=)
n.867C>A
 ClinVar dbSNP gnomAD v4
16g.20348660delCA2632115309UMODc.642del (p.Glu215ArgfsTer29)
c.741del (p.Glu248ArgfsTer29)
c.789del (p.Glu264ArgfsTer29)
c.726del (p.Glu243ArgfsTer29)
n.867del
 gnomAD v4
16g.20348660G>ACA394985235UMODc.641C>T (p.Ala214Val)
c.740C>T (p.Ala247Val)
c.788C>T (p.Ala263Val)
c.725C>T (p.Ala242Val)
n.866C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348660G>CCA394985236UMODc.641C>G (p.Ala214Gly)
c.740C>G (p.Ala247Gly)
c.788C>G (p.Ala263Gly)
c.725C>G (p.Ala242Gly)
n.866C>G
16g.20348660G=CA2211942382UMODc.641C= (p.Ala214=)
c.740C= (p.Ala247=)
c.788C= (p.Ala263=)
c.725C= (p.Ala242=)
n.866C=
16g.20348660G>TCA394985238UMODc.641C>A (p.Ala214Asp)
c.740C>A (p.Ala247Asp)
c.788C>A (p.Ala263Asp)
c.725C>A (p.Ala242Asp)
n.866C>A
 gnomAD v4
16g.20348661C>ACA394985239UMODc.640G>T (p.Ala214Ser)
c.739G>T (p.Ala247Ser)
c.787G>T (p.Ala263Ser)
c.724G>T (p.Ala242Ser)
n.865G>T
 gnomAD v4
16g.20348661C>GCA394985242UMODc.640G>C (p.Ala214Pro)
c.739G>C (p.Ala247Pro)
c.787G>C (p.Ala263Pro)
c.724G>C (p.Ala242Pro)
n.865G>C
16g.20348661C>TCA394985241UMODc.640G>A (p.Ala214Thr)
c.739G>A (p.Ala247Thr)
c.787G>A (p.Ala263Thr)
c.724G>A (p.Ala242Thr)
n.865G>A
 gnomAD v4
16g.20348662C>ACA394985244UMODc.639G>T (p.Met213Ile)
c.738G>T (p.Met246Ile)
c.786G>T (p.Met262Ile)
c.723G>T (p.Met241Ile)
n.864G>T
 gnomAD v4
16g.20348662C=CA2211942383UMODc.639G= (p.Met213=)
c.738G= (p.Met246=)
c.786G= (p.Met262=)
c.723G= (p.Met241=)
n.864G=
16g.20348662C>GCA394985246UMODc.639G>C (p.Met213Ile)
c.738G>C (p.Met246Ile)
c.786G>C (p.Met262Ile)
c.723G>C (p.Met241Ile)
n.864G>C
16g.20348662C>TCA279299762UMODc.639G>A (p.Met213Ile)
c.738G>A (p.Met246Ile)
c.786G>A (p.Met262Ile)
c.723G>A (p.Met241Ile)
n.864G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348663A>CCA394985248UMODc.638T>G (p.Met213Arg)
c.737T>G (p.Met246Arg)
c.785T>G (p.Met262Arg)
c.722T>G (p.Met241Arg)
n.863T>G
16g.20348663A>GCA394985250UMODc.638T>C (p.Met213Thr)
c.737T>C (p.Met246Thr)
c.785T>C (p.Met262Thr)
c.722T>C (p.Met241Thr)
n.863T>C
16g.20348663A>TCA394985251UMODc.638T>A (p.Met213Lys)
c.737T>A (p.Met246Lys)
c.785T>A (p.Met262Lys)
c.722T>A (p.Met241Lys)
n.863T>A
 gnomAD v4
16g.20348664T>ACA394985253UMODc.637A>T (p.Met213Leu)
c.736A>T (p.Met246Leu)
c.784A>T (p.Met262Leu)
c.721A>T (p.Met241Leu)
n.862A>T
 gnomAD v4
16g.20348664T>CCA394985254UMODc.637A>G (p.Met213Val)
c.736A>G (p.Met246Val)
c.784A>G (p.Met262Val)
c.721A>G (p.Met241Val)
n.862A>G
 gnomAD v4
16g.20348664T>GCA7939425UMODc.637A>C (p.Met213Leu)
c.736A>C (p.Met246Leu)
c.784A>C (p.Met262Leu)
c.721A>C (p.Met241Leu)
n.862A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348664T=CA2211942385UMODc.637A= (p.Met213=)
c.736A= (p.Met246=)
c.784A= (p.Met262=)
c.721A= (p.Met241=)
n.862A=
16g.20348665G>ACA494097413UMODc.636C>T (p.Arg212=)
c.735C>T (p.Arg245=)
c.783C>T (p.Arg261=)
c.720C>T (p.Arg240=)
n.861C>T
16g.20348665G>CCA494097414UMODc.636C>G (p.Arg212=)
c.735C>G (p.Arg245=)
c.783C>G (p.Arg261=)
c.720C>G (p.Arg240=)
n.861C>G
16g.20348665G>TCA494097415UMODc.636C>A (p.Arg212=)
c.735C>A (p.Arg245=)
c.783C>A (p.Arg261=)
c.720C>A (p.Arg240=)
n.861C>A
 gnomAD v4
16g.20348669_20348670delCA2632115319UMODc.635_636del (p.Arg212HisfsTer?)
c.734_735del (p.Arg245HisfsTer?)
c.782_783del (p.Arg261HisfsTer?)
c.719_720del (p.Arg240HisfsTer?)
n.860_861del
 gnomAD v4
16g.20348666C>ACA7939426UMODc.635G>T (p.Arg212Leu)
c.734G>T (p.Arg245Leu)
c.782G>T (p.Arg261Leu)
c.719G>T (p.Arg240Leu)
n.860G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348666C=CA2211942387UMODc.635G= (p.Arg212=)
c.734G= (p.Arg245=)
c.782G= (p.Arg261=)
c.719G= (p.Arg240=)
n.860G=
16g.20348666C>GCA394985257UMODc.635G>C (p.Arg212Pro)
c.734G>C (p.Arg245Pro)
c.782G>C (p.Arg261Pro)
c.719G>C (p.Arg240Pro)
n.860G>C
 gnomAD v4
16g.20348666C>TCA394985256UMODc.635G>A (p.Arg212His)
c.734G>A (p.Arg245His)
c.782G>A (p.Arg261His)
c.719G>A (p.Arg240His)
n.860G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348667G>ACA7939427UMODc.634C>T (p.Arg212Cys)
c.733C>T (p.Arg245Cys)
c.781C>T (p.Arg261Cys)
c.718C>T (p.Arg240Cys)
n.859C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348667G>CCA394985258UMODc.634C>G (p.Arg212Gly)
c.733C>G (p.Arg245Gly)
c.781C>G (p.Arg261Gly)
c.718C>G (p.Arg240Gly)
n.859C>G
16g.20348667G=CA2211942389UMODc.634C= (p.Arg212=)
c.733C= (p.Arg245=)
c.781C= (p.Arg261=)
c.718C= (p.Arg240=)
n.859C=
16g.20348667G>TCA394985259UMODc.634C>A (p.Arg212Ser)
c.733C>A (p.Arg245Ser)
c.781C>A (p.Arg261Ser)
c.718C>A (p.Arg240Ser)
n.859C>A
 gnomAD v4
16g.20348668delCA2632115325UMODc.633del (p.Arg212AlafsTer?)
c.732del (p.Arg245AlafsTer?)
c.780del (p.Arg261AlafsTer?)
c.717del (p.Arg240AlafsTer?)
n.858del
 gnomAD v4
16g.20348668C>ACA494096840UMODc.633G>T (p.Ala211=)
c.732G>T (p.Ala244=)
c.780G>T (p.Ala260=)
c.717G>T (p.Ala239=)
n.858G>T
 gnomAD v4
16g.20348668C=CA2211942391UMODc.633G= (p.Ala211=)
c.732G= (p.Ala244=)
c.780G= (p.Ala260=)
c.717G= (p.Ala239=)
n.858G=
16g.20348668C>GCA494096841UMODc.633G>C (p.Ala211=)
c.732G>C (p.Ala244=)
c.780G>C (p.Ala260=)
c.717G>C (p.Ala239=)
n.858G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348668C>TCA494096842UMODc.633G>A (p.Ala211=)
c.732G>A (p.Ala244=)
c.780G>A (p.Ala260=)
c.717G>A (p.Ala239=)
n.858G>A
 gnomAD v4
16g.20348669G>ACA394985260UMODc.632C>T (p.Ala211Val)
c.731C>T (p.Ala244Val)
c.779C>T (p.Ala260Val)
c.716C>T (p.Ala239Val)
n.857C>T
 dbSNP gnomAD v4 COSMIC COSMIC
16g.20348669G>CCA394985261UMODc.632C>G (p.Ala211Gly)
c.731C>G (p.Ala244Gly)
c.779C>G (p.Ala260Gly)
c.716C>G (p.Ala239Gly)
n.857C>G
16g.20348669G=CA2211942393UMODc.632C= (p.Ala211=)
c.731C= (p.Ala244=)
c.779C= (p.Ala260=)
c.716C= (p.Ala239=)
n.857C=
16g.20348669G>TCA394985262UMODc.632C>A (p.Ala211Glu)
c.731C>A (p.Ala244Glu)
c.779C>A (p.Ala260Glu)
c.716C>A (p.Ala239Glu)
n.857C>A
 gnomAD v4
16g.20348670C>ACA394985263UMODc.631G>T (p.Ala211Ser)
c.730G>T (p.Ala244Ser)
c.778G>T (p.Ala260Ser)
c.715G>T (p.Ala239Ser)
n.856G>T
 gnomAD v4
16g.20348670C=CA2211942395UMODc.631G= (p.Ala211=)
c.730G= (p.Ala244=)
c.778G= (p.Ala260=)
c.715G= (p.Ala239=)
n.856G=
16g.20348670C>GCA394985264UMODc.631G>C (p.Ala211Pro)
c.730G>C (p.Ala244Pro)
c.778G>C (p.Ala260Pro)
c.715G>C (p.Ala239Pro)
n.856G>C
16g.20348670C>TCA279299776UMODc.631G>A (p.Ala211Thr)
c.730G>A (p.Ala244Thr)
c.778G>A (p.Ala260Thr)
c.715G>A (p.Ala239Thr)
n.856G>A
 dbSNP gnomAD v4
16g.20348671_20348676delCA2632115329UMODc.626_631del (p.Gly209_Gly210del)
c.725_730del (p.Gly242_Gly243del)
c.773_778del (p.Gly258_Gly259del)
c.710_715del (p.Gly237_Gly238del)
n.851_856del
 gnomAD v4
16g.20348671A>CCA494096846UMODc.630T>G (p.Gly210=)
c.729T>G (p.Gly243=)
c.777T>G (p.Gly259=)
c.714T>G (p.Gly238=)
n.855T>G
16g.20348671A>GCA494096845UMODc.630T>C (p.Gly210=)
c.729T>C (p.Gly243=)
c.777T>C (p.Gly259=)
c.714T>C (p.Gly238=)
n.855T>C
16g.20348671A>TCA494096844UMODc.630T>A (p.Gly210=)
c.729T>A (p.Gly243=)
c.777T>A (p.Gly259=)
c.714T>A (p.Gly238=)
n.855T>A
16g.20348672C>ACA394985266UMODc.629G>T (p.Gly210Val)
c.728G>T (p.Gly243Val)
c.776G>T (p.Gly259Val)
c.713G>T (p.Gly238Val)
n.854G>T
 gnomAD v4
16g.20348672C>GCA394985267UMODc.629G>C (p.Gly210Ala)
c.728G>C (p.Gly243Ala)
c.776G>C (p.Gly259Ala)
c.713G>C (p.Gly238Ala)
n.854G>C
16g.20348672C>TCA394985268UMODc.629G>A (p.Gly210Asp)
c.728G>A (p.Gly243Asp)
c.776G>A (p.Gly259Asp)
c.713G>A (p.Gly238Asp)
n.854G>A
 gnomAD v4
16g.20348673C>ACA394985271UMODc.628G>T (p.Gly210Cys)
c.727G>T (p.Gly243Cys)
c.775G>T (p.Gly259Cys)
c.712G>T (p.Gly238Cys)
n.853G>T
 gnomAD v4
16g.20348673C=CA2211942397UMODc.628G= (p.Gly210=)
c.727G= (p.Gly243=)
c.775G= (p.Gly259=)
c.712G= (p.Gly238=)
n.853G=
16g.20348673C>GCA394985273UMODc.628G>C (p.Gly210Arg)
c.727G>C (p.Gly243Arg)
c.775G>C (p.Gly259Arg)
c.712G>C (p.Gly238Arg)
n.853G>C
16g.20348673C>TCA394985270UMODc.628G>A (p.Gly210Ser)
c.727G>A (p.Gly243Ser)
c.775G>A (p.Gly259Ser)
c.712G>A (p.Gly238Ser)
n.853G>A
 ClinVar dbSNP gnomAD v4
16g.20348674G>ACA494096850UMODc.627C>T (p.Gly209=)
c.726C>T (p.Gly242=)
c.774C>T (p.Gly258=)
c.711C>T (p.Gly237=)
n.852C>T
 gnomAD v4 COSMIC COSMIC
16g.20348674G>CCA494096851UMODc.627C>G (p.Gly209=)
c.726C>G (p.Gly242=)
c.774C>G (p.Gly258=)
c.711C>G (p.Gly237=)
n.852C>G
16g.20348674G>TCA494096852UMODc.627C>A (p.Gly209=)
c.726C>A (p.Gly242=)
c.774C>A (p.Gly258=)
c.711C>A (p.Gly237=)
n.852C>A
 gnomAD v4
16g.20348675C>ACA394985274UMODc.626G>T (p.Gly209Val)
c.725G>T (p.Gly242Val)
c.773G>T (p.Gly258Val)
c.710G>T (p.Gly237Val)
n.851G>T
 ClinVar dbSNP gnomAD v4
16g.20348675C=CA2211942401UMODc.626G= (p.Gly209=)
c.725G= (p.Gly242=)
c.773G= (p.Gly258=)
c.710G= (p.Gly237=)
n.851G=
16g.20348675C>GCA394985276UMODc.626G>C (p.Gly209Ala)
c.725G>C (p.Gly242Ala)
c.773G>C (p.Gly258Ala)
c.710G>C (p.Gly237Ala)
n.851G>C
 dbSNP
16g.20348675C>TCA394985277UMODc.626G>A (p.Gly209Asp)
c.725G>A (p.Gly242Asp)
c.773G>A (p.Gly258Asp)
c.710G>A (p.Gly237Asp)
n.851G>A
 gnomAD v4
16g.20348677delCA2632115337UMODc.626del (p.Gly209AlafsTer?)
c.725del (p.Gly242AlafsTer?)
c.773del (p.Gly258AlafsTer?)
c.710del (p.Gly237AlafsTer?)
n.851del
 gnomAD v4
16g.20348676C>ACA394985279UMODc.625G>T (p.Gly209Cys)
c.724G>T (p.Gly242Cys)
c.772G>T (p.Gly258Cys)
c.709G>T (p.Gly237Cys)
n.850G>T
 gnomAD v4
16g.20348676C>GCA394985280UMODc.625G>C (p.Gly209Arg)
c.724G>C (p.Gly242Arg)
c.772G>C (p.Gly258Arg)
c.709G>C (p.Gly237Arg)
n.850G>C
16g.20348676C>TCA394985282UMODc.625G>A (p.Gly209Ser)
c.724G>A (p.Gly242Ser)
c.772G>A (p.Gly258Ser)
c.709G>A (p.Gly237Ser)
n.850G>A
 gnomAD v4
16g.20348677C>ACA394985284UMODc.624G>T (p.Gln208His)
c.723G>T (p.Gln241His)
c.771G>T (p.Gln257His)
c.708G>T (p.Gln236His)
n.849G>T
 gnomAD v4
16g.20348677C>GCA394985285UMODc.624G>C (p.Gln208His)
c.723G>C (p.Gln241His)
c.771G>C (p.Gln257His)
c.708G>C (p.Gln236His)
n.849G>C
16g.20348677C>TCA494096854UMODc.624G>A (p.Gln208=)
c.723G>A (p.Gln241=)
c.771G>A (p.Gln257=)
c.708G>A (p.Gln236=)
n.849G>A
 gnomAD v4
16g.20348678_20348681dupCA2632115342UMODc.621_624dup (p.Gly209ProfsTer?)
c.720_723dup (p.Gly242ProfsTer?)
c.768_771dup (p.Gly258ProfsTer?)
c.705_708dup (p.Gly237ProfsTer?)
n.846_849dup
 gnomAD v4
16g.20348678T>ACA394985287UMODc.623A>T (p.Gln208Leu)
c.722A>T (p.Gln241Leu)
c.770A>T (p.Gln257Leu)
c.707A>T (p.Gln236Leu)
n.848A>T
 gnomAD v4
16g.20348678T>CCA394985289UMODc.623A>G (p.Gln208Arg)
c.722A>G (p.Gln241Arg)
c.770A>G (p.Gln257Arg)
c.707A>G (p.Gln236Arg)
n.848A>G
 dbSNP gnomAD v4
16g.20348678T>GCA394985290UMODc.623A>C (p.Gln208Pro)
c.722A>C (p.Gln241Pro)
c.770A>C (p.Gln257Pro)
c.707A>C (p.Gln236Pro)
n.848A>C
16g.20348679G>ACA394985292UMODc.622C>T (p.Gln208Ter)
c.721C>T (p.Gln241Ter)
c.769C>T (p.Gln257Ter)
c.706C>T (p.Gln236Ter)
n.847C>T
 gnomAD v4
16g.20348679G>CCA394985293UMODc.622C>G (p.Gln208Glu)
c.721C>G (p.Gln241Glu)
c.769C>G (p.Gln257Glu)
c.706C>G (p.Gln236Glu)
n.847C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348679G=CA2211942402UMODc.622C= (p.Gln208=)
c.721C= (p.Gln241=)
c.769C= (p.Gln257=)
c.706C= (p.Gln236=)
n.847C=
16g.20348679G>TCA394985294UMODc.622C>A (p.Gln208Lys)
c.721C>A (p.Gln241Lys)
c.769C>A (p.Gln257Lys)
c.706C>A (p.Gln236Lys)
n.847C>A
 gnomAD v4
16g.20348680G>ACA494096861UMODc.621C>T (p.Gly207=)
c.720C>T (p.Gly240=)
c.768C>T (p.Gly256=)
c.705C>T (p.Gly235=)
n.846C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348680G>CCA494096862UMODc.621C>G (p.Gly207=)
c.720C>G (p.Gly240=)
c.768C>G (p.Gly256=)
c.705C>G (p.Gly235=)
n.846C>G
16g.20348680G=CA2211942403UMODc.621C= (p.Gly207=)
c.720C= (p.Gly240=)
c.768C= (p.Gly256=)
c.705C= (p.Gly235=)
n.846C=
16g.20348680G>TCA494096863UMODc.621C>A (p.Gly207=)
c.720C>A (p.Gly240=)
c.768C>A (p.Gly256=)
c.705C>A (p.Gly235=)
n.846C>A
 gnomAD v4
16g.20348681C>ACA394985297UMODc.620G>T (p.Gly207Val)
c.719G>T (p.Gly240Val)
c.767G>T (p.Gly256Val)
c.704G>T (p.Gly235Val)
n.845G>T
 gnomAD v4
16g.20348681C=CA2211942405UMODc.620G= (p.Gly207=)
c.719G= (p.Gly240=)
c.767G= (p.Gly256=)
c.704G= (p.Gly235=)
n.845G=
16g.20348681C>GCA394985299UMODc.620G>C (p.Gly207Ala)
c.719G>C (p.Gly240Ala)
c.767G>C (p.Gly256Ala)
c.704G>C (p.Gly235Ala)
n.845G>C
16g.20348681C>TCA394985296UMODc.620G>A (p.Gly207Asp)
c.719G>A (p.Gly240Asp)
c.767G>A (p.Gly256Asp)
c.704G>A (p.Gly235Asp)
n.845G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348682C>ACA394985304UMODc.619G>T (p.Gly207Cys)
c.718G>T (p.Gly240Cys)
c.766G>T (p.Gly256Cys)
c.703G>T (p.Gly235Cys)
n.844G>T
 gnomAD v4
16g.20348682C=CA2211942407UMODc.619G= (p.Gly207=)
c.718G= (p.Gly240=)
c.766G= (p.Gly256=)
c.703G= (p.Gly235=)
n.844G=
16g.20348682C>GCA394985303UMODc.619G>C (p.Gly207Arg)
c.718G>C (p.Gly240Arg)
c.766G>C (p.Gly256Arg)
c.703G>C (p.Gly235Arg)
n.844G>C
16g.20348682C>TCA394985306UMODc.619G>A (p.Gly207Ser)
c.718G>A (p.Gly240Ser)
c.766G>A (p.Gly256Ser)
c.703G>A (p.Gly235Ser)
n.844G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348683C>ACA494096870UMODc.618G>T (p.Val206=)
c.717G>T (p.Val239=)
c.765G>T (p.Val255=)
c.702G>T (p.Val234=)
n.843G>T
 gnomAD v4
16g.20348683C=CA2211942409UMODc.618G= (p.Val206=)
c.717G= (p.Val239=)
c.765G= (p.Val255=)
c.702G= (p.Val234=)
n.843G=
16g.20348683C>GCA494096872UMODc.618G>C (p.Val206=)
c.717G>C (p.Val239=)
c.765G>C (p.Val255=)
c.702G>C (p.Val234=)
n.843G>C
16g.20348683C>TCA7939428UMODc.618G>A (p.Val206=)
c.717G>A (p.Val239=)
c.765G>A (p.Val255=)
c.702G>A (p.Val234=)
n.843G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348684A=CA2211942411UMODc.617T= (p.Val206=)
c.716T= (p.Val239=)
c.764T= (p.Val255=)
c.701T= (p.Val234=)
n.842T=
16g.20348684A>CCA394985309UMODc.617T>G (p.Val206Gly)
c.716T>G (p.Val239Gly)
c.764T>G (p.Val255Gly)
c.701T>G (p.Val234Gly)
n.842T>G
16g.20348684A>GCA279299782UMODc.617T>C (p.Val206Ala)
c.716T>C (p.Val239Ala)
c.764T>C (p.Val255Ala)
c.701T>C (p.Val234Ala)
n.842T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348684A>TCA394985311UMODc.617T>A (p.Val206Glu)
c.716T>A (p.Val239Glu)
c.764T>A (p.Val255Glu)
c.701T>A (p.Val234Glu)
n.842T>A
16g.20348685C>ACA394985312UMODc.616G>T (p.Val206Leu)
c.715G>T (p.Val239Leu)
c.763G>T (p.Val255Leu)
c.700G>T (p.Val234Leu)
n.841G>T
 gnomAD v4
16g.20348685C>GCA394985313UMODc.616G>C (p.Val206Leu)
c.715G>C (p.Val239Leu)
c.763G>C (p.Val255Leu)
c.700G>C (p.Val234Leu)
n.841G>C
16g.20348685C>TCA394985315UMODc.616G>A (p.Val206Met)
c.715G>A (p.Val239Met)
c.763G>A (p.Val255Met)
c.700G>A (p.Val234Met)
n.841G>A
 gnomAD v4
16g.20348686G>ACA494096877UMODc.615C>T (p.Phe205=)
c.714C>T (p.Phe238=)
c.762C>T (p.Phe254=)
c.699C>T (p.Phe233=)
n.840C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.20348686G>CCA394985316UMODc.615C>G (p.Phe205Leu)
c.714C>G (p.Phe238Leu)
c.762C>G (p.Phe254Leu)
c.699C>G (p.Phe233Leu)
n.840C>G
16g.20348686G=CA2211942413UMODc.615C= (p.Phe205=)
c.714C= (p.Phe238=)
c.762C= (p.Phe254=)
c.699C= (p.Phe233=)
n.840C=
16g.20348686G>TCA279299789UMODc.615C>A (p.Phe205Leu)
c.714C>A (p.Phe238Leu)
c.762C>A (p.Phe254Leu)
c.699C>A (p.Phe233Leu)
n.840C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348687A>CCA394985319UMODc.614T>G (p.Phe205Cys)
c.713T>G (p.Phe238Cys)
c.761T>G (p.Phe254Cys)
c.698T>G (p.Phe233Cys)
n.839T>G
16g.20348687A>GCA394985320UMODc.614T>C (p.Phe205Ser)
c.713T>C (p.Phe238Ser)
c.761T>C (p.Phe254Ser)
c.698T>C (p.Phe233Ser)
n.839T>C
16g.20348687A>TCA394985321UMODc.614T>A (p.Phe205Tyr)
c.713T>A (p.Phe238Tyr)
c.761T>A (p.Phe254Tyr)
c.698T>A (p.Phe233Tyr)
n.839T>A
16g.20348688A>CCA394985324UMODc.613T>G (p.Phe205Val)
c.712T>G (p.Phe238Val)
c.760T>G (p.Phe254Val)
c.697T>G (p.Phe233Val)
n.838T>G
16g.20348688A>GCA394985322UMODc.613T>C (p.Phe205Leu)
c.712T>C (p.Phe238Leu)
c.760T>C (p.Phe254Leu)
c.697T>C (p.Phe233Leu)
n.838T>C
16g.20348688A>TCA394985323UMODc.613T>A (p.Phe205Ile)
c.712T>A (p.Phe238Ile)
c.760T>A (p.Phe254Ile)
c.697T>A (p.Phe233Ile)
n.838T>A
16g.20348689G>ACA494096884UMODc.612C>T (p.Arg204=)
c.711C>T (p.Arg237=)
c.759C>T (p.Arg253=)
c.696C>T (p.Arg232=)
n.837C>T
 gnomAD v4
16g.20348689G>CCA494096887UMODc.612C>G (p.Arg204=)
c.711C>G (p.Arg237=)
c.759C>G (p.Arg253=)
c.696C>G (p.Arg232=)
n.837C>G
16g.20348689G>TCA494096885UMODc.612C>A (p.Arg204=)
c.711C>A (p.Arg237=)
c.759C>A (p.Arg253=)
c.696C>A (p.Arg232=)
n.837C>A
 gnomAD v4
16g.20348690C>ACA394985325UMODc.611G>T (p.Arg204Leu)
c.710G>T (p.Arg237Leu)
c.758G>T (p.Arg253Leu)
c.695G>T (p.Arg232Leu)
n.836G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348690C=CA2211942417UMODc.611G= (p.Arg204=)
c.710G= (p.Arg237=)
c.758G= (p.Arg253=)
c.695G= (p.Arg232=)
n.836G=
16g.20348690C>GCA394985326UMODc.611G>C (p.Arg204Pro)
c.710G>C (p.Arg237Pro)
c.758G>C (p.Arg253Pro)
c.695G>C (p.Arg232Pro)
n.836G>C
 ClinVar
16g.20348690C>TCA394985327UMODc.611G>A (p.Arg204His)
c.710G>A (p.Arg237His)
c.758G>A (p.Arg253His)
c.695G>A (p.Arg232His)
n.836G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348691G>ACA394985328UMODc.610C>T (p.Arg204Cys)
c.709C>T (p.Arg237Cys)
c.757C>T (p.Arg253Cys)
c.694C>T (p.Arg232Cys)
n.835C>T
 ClinVar gnomAD v4
16g.20348691G>CCA394985329UMODc.610C>G (p.Arg204Gly)
c.709C>G (p.Arg237Gly)
c.757C>G (p.Arg253Gly)
c.694C>G (p.Arg232Gly)
n.835C>G
 ClinVar dbSNP
16g.20348691G=CA2211942418UMODc.610C= (p.Arg204=)
c.709C= (p.Arg237=)
c.757C= (p.Arg253=)
c.694C= (p.Arg232=)
n.835C=
16g.20348691G>TCA394985330UMODc.610C>A (p.Arg204Ser)
c.709C>A (p.Arg237Ser)
c.757C>A (p.Arg253Ser)
c.694C>A (p.Arg232Ser)
n.835C>A
 gnomAD v4
16g.20348692delCA2806163731UMODc.610del (p.Arg204AlafsTer?)
c.709del (p.Arg237AlafsTer?)
c.757del (p.Arg253AlafsTer?)
c.694del (p.Arg232AlafsTer?)
n.835del
16g.20348691_20348693dupCA2575933284UMODc.608_610dup (p.Tyr203_Arg204insHis)
c.707_709dup (p.Tyr236_Arg237insHis)
c.755_757dup (p.Tyr252_Arg253insHis)
c.692_694dup (p.Tyr231_Arg232insHis)
n.833_835dup
16g.20348692G>ACA494096891UMODc.609C>T (p.Tyr203=)
c.708C>T (p.Tyr236=)
c.756C>T (p.Tyr252=)
c.693C>T (p.Tyr231=)
n.834C>T
 dbSNP gnomAD v4
16g.20348692G>CCA394985331UMODc.609C>G (p.Tyr203Ter)
c.708C>G (p.Tyr236Ter)
c.756C>G (p.Tyr252Ter)
c.693C>G (p.Tyr231Ter)
n.834C>G
16g.20348692G=CA2211942423UMODc.609C= (p.Tyr203=)
c.708C= (p.Tyr236=)
c.756C= (p.Tyr252=)
c.693C= (p.Tyr231=)
n.834C=
16g.20348692G>TCA394985332UMODc.609C>A (p.Tyr203Ter)
c.708C>A (p.Tyr236Ter)
c.756C>A (p.Tyr252Ter)
c.693C>A (p.Tyr231Ter)
n.834C>A
 gnomAD v2 gnomAD v4
16g.20348692_20348693delinsGTCA2211942422UMODc.608_609delinsAC (p.Tyr203=)
c.707_708delinsAC (p.Tyr236=)
c.755_756delinsAC (p.Tyr252=)
c.692_693delinsAC (p.Tyr231=)
n.833_834delinsAC
16g.20348693delCA621658526UMODc.608del (p.Tyr203SerfsTer?)
c.707del (p.Tyr236SerfsTer?)
c.755del (p.Tyr252SerfsTer?)
c.692del (p.Tyr231SerfsTer?)
n.833del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348693T>ACA394985333UMODc.608A>T (p.Tyr203Phe)
c.707A>T (p.Tyr236Phe)
c.755A>T (p.Tyr252Phe)
c.692A>T (p.Tyr231Phe)
n.833A>T
16g.20348693T>CCA394985334UMODc.608A>G (p.Tyr203Cys)
c.707A>G (p.Tyr236Cys)
c.755A>G (p.Tyr252Cys)
c.692A>G (p.Tyr231Cys)
n.833A>G
 gnomAD v4
16g.20348693T>GCA394985335UMODc.608A>C (p.Tyr203Ser)
c.707A>C (p.Tyr236Ser)
c.755A>C (p.Tyr252Ser)
c.692A>C (p.Tyr231Ser)
n.833A>C
16g.20348693T=CA2211942427UMODc.608A= (p.Tyr203=)
c.707A= (p.Tyr236=)
c.755A= (p.Tyr252=)
c.692A= (p.Tyr231=)
n.833A=
16g.20348694A>CCA394985338UMODc.607T>G (p.Tyr203Asp)
c.706T>G (p.Tyr236Asp)
c.754T>G (p.Tyr252Asp)
c.691T>G (p.Tyr231Asp)
n.832T>G
16g.20348694A>GCA394985337UMODc.607T>C (p.Tyr203His)
c.706T>C (p.Tyr236His)
c.754T>C (p.Tyr252His)
c.691T>C (p.Tyr231His)
n.832T>C
 gnomAD v4
16g.20348694A>TCA394985336UMODc.607T>A (p.Tyr203Asn)
c.706T>A (p.Tyr236Asn)
c.754T>A (p.Tyr252Asn)
c.691T>A (p.Tyr231Asn)
n.832T>A
16g.20348694dupCA7939429UMODc.607dup (p.Tyr203LeufsTer?)
c.706dup (p.Tyr236LeufsTer?)
c.754dup (p.Tyr252LeufsTer?)
c.691dup (p.Tyr231LeufsTer?)
n.832dup
 dbSNP ExAC gnomAD v4
16g.20348695C>ACA394985339UMODc.606G>T (p.Trp202Cys)
c.705G>T (p.Trp235Cys)
c.753G>T (p.Trp251Cys)
c.690G>T (p.Trp230Cys)
n.831G>T
 gnomAD v4
16g.20348695C=CA2211942433UMODc.606G= (p.Trp202=)
c.705G= (p.Trp235=)
c.753G= (p.Trp251=)
c.690G= (p.Trp230=)
n.831G=
16g.20348695C>GCA394985340UMODc.606G>C (p.Trp202Cys)
c.705G>C (p.Trp235Cys)
c.753G>C (p.Trp251Cys)
c.690G>C (p.Trp230Cys)
n.831G>C
 gnomAD v4
16g.20348695C>TCA394985341UMODc.606G>A (p.Trp202Ter)
c.705G>A (p.Trp235Ter)
c.753G>A (p.Trp251Ter)
c.690G>A (p.Trp230Ter)
n.831G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348696C>ACA394985342UMODc.605G>T (p.Trp202Leu)
c.704G>T (p.Trp235Leu)
c.752G>T (p.Trp251Leu)
c.689G>T (p.Trp230Leu)
n.830G>T
 gnomAD v4
16g.20348696C=CA2211942436UMODc.605G= (p.Trp202=)
c.704G= (p.Trp235=)
c.752G= (p.Trp251=)
c.689G= (p.Trp230=)
n.830G=
16g.20348696C>GCA394985343UMODc.605G>C (p.Trp202Ser)
c.704G>C (p.Trp235Ser)
c.752G>C (p.Trp251Ser)
c.689G>C (p.Trp230Ser)
n.830G>C
16g.20348696C>TCA394985344UMODc.605G>A (p.Trp202Ter)
c.704G>A (p.Trp235Ter)
c.752G>A (p.Trp251Ter)
c.689G>A (p.Trp230Ter)
n.830G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348697A>CCA394985345UMODc.604T>G (p.Trp202Gly)
c.703T>G (p.Trp235Gly)
c.751T>G (p.Trp251Gly)
c.688T>G (p.Trp230Gly)
n.829T>G
16g.20348697A>GCA394985346UMODc.604T>C (p.Trp202Arg)
c.703T>C (p.Trp235Arg)
c.751T>C (p.Trp251Arg)
c.688T>C (p.Trp230Arg)
n.829T>C
 ClinVar gnomAD v4
16g.20348697A>TCA394985347UMODc.604T>A (p.Trp202Arg)
c.703T>A (p.Trp235Arg)
c.751T>A (p.Trp251Arg)
c.688T>A (p.Trp230Arg)
n.829T>A
16g.20348698G>ACA494096894UMODc.603C>T (p.Gly201=)
c.702C>T (p.Gly234=)
c.750C>T (p.Gly250=)
c.687C>T (p.Gly229=)
n.828C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348698G>CCA494096896UMODc.603C>G (p.Gly201=)
c.702C>G (p.Gly234=)
c.750C>G (p.Gly250=)
c.687C>G (p.Gly229=)
n.828C>G
16g.20348698G=CA2211942440UMODc.603C= (p.Gly201=)
c.702C= (p.Gly234=)
c.750C= (p.Gly250=)
c.687C= (p.Gly229=)
n.828C=
16g.20348698G>TCA494096897UMODc.603C>A (p.Gly201=)
c.702C>A (p.Gly234=)
c.750C>A (p.Gly250=)
c.687C>A (p.Gly229=)
n.828C>A
 gnomAD v4
16g.20348699C>ACA394985348UMODc.602G>T (p.Gly201Val)
c.701G>T (p.Gly234Val)
c.749G>T (p.Gly250Val)
c.686G>T (p.Gly229Val)
n.827G>T
 gnomAD v4
16g.20348699C>GCA394985349UMODc.602G>C (p.Gly201Ala)
c.701G>C (p.Gly234Ala)
c.749G>C (p.Gly250Ala)
c.686G>C (p.Gly229Ala)
n.827G>C
16g.20348699C>TCA394985350UMODc.602G>A (p.Gly201Asp)
c.701G>A (p.Gly234Asp)
c.749G>A (p.Gly250Asp)
c.686G>A (p.Gly229Asp)
n.827G>A
 gnomAD v4
16g.20348700C>ACA394985352UMODc.601G>T (p.Gly201Cys)
c.700G>T (p.Gly234Cys)
c.748G>T (p.Gly250Cys)
c.685G>T (p.Gly229Cys)
n.826G>T
 gnomAD v4
16g.20348700C>GCA394985353UMODc.601G>C (p.Gly201Arg)
c.700G>C (p.Gly234Arg)
c.748G>C (p.Gly250Arg)
c.685G>C (p.Gly229Arg)
n.826G>C
16g.20348700C>TCA394985351UMODc.601G>A (p.Gly201Ser)
c.700G>A (p.Gly234Ser)
c.748G>A (p.Gly250Ser)
c.685G>A (p.Gly229Ser)
n.826G>A
 gnomAD v4
16g.20348701G>ACA494096899UMODc.600C>T (p.Arg200=)
c.699C>T (p.Arg233=)
c.747C>T (p.Arg249=)
c.684C>T (p.Arg228=)
n.825C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348701G>CCA494096900UMODc.600C>G (p.Arg200=)
c.699C>G (p.Arg233=)
c.747C>G (p.Arg249=)
c.684C>G (p.Arg228=)
n.825C>G
 gnomAD v4
16g.20348701G=CA2211942441UMODc.600C= (p.Arg200=)
c.699C= (p.Arg233=)
c.747C= (p.Arg249=)
c.684C= (p.Arg228=)
n.825C=
16g.20348701G>TCA494096901UMODc.600C>A (p.Arg200=)
c.699C>A (p.Arg233=)
c.747C>A (p.Arg249=)
c.684C>A (p.Arg228=)
n.825C>A
 gnomAD v4
16g.20348702C>ACA394985354UMODc.599G>T (p.Arg200Leu)
c.698G>T (p.Arg233Leu)
c.746G>T (p.Arg249Leu)
c.683G>T (p.Arg228Leu)
n.824G>T
 gnomAD v4
16g.20348702C=CA2211942443UMODc.599G= (p.Arg200=)
c.698G= (p.Arg233=)
c.746G= (p.Arg249=)
c.683G= (p.Arg228=)
n.824G=
16g.20348702C>GCA394985355UMODc.599G>C (p.Arg200Pro)
c.698G>C (p.Arg233Pro)
c.746G>C (p.Arg249Pro)
c.683G>C (p.Arg228Pro)
n.824G>C
16g.20348702C>TCA279299797UMODc.599G>A (p.Arg200His)
c.698G>A (p.Arg233His)
c.746G>A (p.Arg249His)
c.683G>A (p.Arg228His)
n.824G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348703G>ACA394985356UMODc.598C>T (p.Arg200Cys)
c.697C>T (p.Arg233Cys)
c.745C>T (p.Arg249Cys)
c.682C>T (p.Arg228Cys)
n.823C>T
 gnomAD v4
16g.20348703G>CCA394985357UMODc.598C>G (p.Arg200Gly)
c.697C>G (p.Arg233Gly)
c.745C>G (p.Arg249Gly)
c.682C>G (p.Arg228Gly)
n.823C>G
 gnomAD v4
16g.20348703G=CA2211942446UMODc.598C= (p.Arg200=)
c.697C= (p.Arg233=)
c.745C= (p.Arg249=)
c.682C= (p.Arg228=)
n.823C=
16g.20348703G>TCA394985358UMODc.598C>A (p.Arg200Ser)
c.697C>A (p.Arg233Ser)
c.745C>A (p.Arg249Ser)
c.682C>A (p.Arg228Ser)
n.823C>A
 dbSNP gnomAD v4
16g.20348704C>ACA494096903UMODc.597G>T (p.Leu199=)
c.696G>T (p.Leu232=)
c.744G>T (p.Leu248=)
c.681G>T (p.Leu227=)
n.822G>T
 gnomAD v4
16g.20348704C>GCA494096904UMODc.597G>C (p.Leu199=)
c.696G>C (p.Leu232=)
c.744G>C (p.Leu248=)
c.681G>C (p.Leu227=)
n.822G>C
 gnomAD v4
16g.20348704C>TCA494096905UMODc.597G>A (p.Leu199=)
c.696G>A (p.Leu232=)
c.744G>A (p.Leu248=)
c.681G>A (p.Leu227=)
n.822G>A
 gnomAD v4
16g.20348705A>CCA394985359UMODc.596T>G (p.Leu199Arg)
c.695T>G (p.Leu232Arg)
c.743T>G (p.Leu248Arg)
c.680T>G (p.Leu227Arg)
n.821T>G
16g.20348705A>GCA394985361UMODc.596T>C (p.Leu199Pro)
c.695T>C (p.Leu232Pro)
c.743T>C (p.Leu248Pro)
c.680T>C (p.Leu227Pro)
n.821T>C
 gnomAD v4
16g.20348705A>TCA394985360UMODc.596T>A (p.Leu199Gln)
c.695T>A (p.Leu232Gln)
c.743T>A (p.Leu248Gln)
c.680T>A (p.Leu227Gln)
n.821T>A
 gnomAD v4
16g.20348706G>ACA494096906UMODc.595C>T (p.Leu199=)
c.694C>T (p.Leu232=)
c.742C>T (p.Leu248=)
c.679C>T (p.Leu227=)
n.820C>T
 dbSNP gnomAD v4
16g.20348706G>CCA394985363UMODc.595C>G (p.Leu199Val)
c.694C>G (p.Leu232Val)
c.742C>G (p.Leu248Val)
c.679C>G (p.Leu227Val)
n.820C>G
16g.20348706G=CA2211942450UMODc.595C= (p.Leu199=)
c.694C= (p.Leu232=)
c.742C= (p.Leu248=)
c.679C= (p.Leu227=)
n.820C=
16g.20348706G>TCA394985364UMODc.595C>A (p.Leu199Met)
c.694C>A (p.Leu232Met)
c.742C>A (p.Leu248Met)
c.679C>A (p.Leu227Met)
n.820C>A
 gnomAD v4
16g.20348707G>ACA494096912UMODc.594C>T (p.Asp198=)
c.693C>T (p.Asp231=)
c.741C>T (p.Asp247=)
c.678C>T (p.Asp226=)
n.819C>T
 gnomAD v4
16g.20348707G>CCA394985365UMODc.594C>G (p.Asp198Glu)
c.693C>G (p.Asp231Glu)
c.741C>G (p.Asp247Glu)
c.678C>G (p.Asp226Glu)
n.819C>G
 gnomAD v4
16g.20348707G>TCA394985366UMODc.594C>A (p.Asp198Glu)
c.693C>A (p.Asp231Glu)
c.741C>A (p.Asp247Glu)
c.678C>A (p.Asp226Glu)
n.819C>A
 gnomAD v4
16g.20348708T>ACA394985369UMODc.593A>T (p.Asp198Val)
c.692A>T (p.Asp231Val)
c.740A>T (p.Asp247Val)
c.677A>T (p.Asp226Val)
n.818A>T
16g.20348708T>CCA394985368UMODc.593A>G (p.Asp198Gly)
c.692A>G (p.Asp231Gly)
c.740A>G (p.Asp247Gly)
c.677A>G (p.Asp226Gly)
n.818A>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348708T>GCA394985367UMODc.593A>C (p.Asp198Ala)
c.692A>C (p.Asp231Ala)
c.740A>C (p.Asp247Ala)
c.677A>C (p.Asp226Ala)
n.818A>C
16g.20348708T=CA2211942455UMODc.593A= (p.Asp198=)
c.692A= (p.Asp231=)
c.740A= (p.Asp247=)
c.677A= (p.Asp226=)
n.818A=
16g.20348709C>ACA394985370UMODc.592G>T (p.Asp198Tyr)
c.691G>T (p.Asp231Tyr)
c.739G>T (p.Asp247Tyr)
c.676G>T (p.Asp226Tyr)
n.817G>T
 gnomAD v4
16g.20348709C=CA2211942459UMODc.592G= (p.Asp198=)
c.691G= (p.Asp231=)
c.739G= (p.Asp247=)
c.676G= (p.Asp226=)
n.817G=
16g.20348709C>GCA394985371UMODc.592G>C (p.Asp198His)
c.691G>C (p.Asp231His)
c.739G>C (p.Asp247His)
c.676G>C (p.Asp226His)
n.817G>C
16g.20348709C>TCA279299804UMODc.592G>A (p.Asp198Asn)
c.691G>A (p.Asp231Asn)
c.739G>A (p.Asp247Asn)
c.676G>A (p.Asp226Asn)
n.817G>A
 dbSNP gnomAD v4
16g.20348710C>ACA7939430UMODc.591G>T (p.Thr197=)
c.690G>T (p.Thr230=)
c.738G>T (p.Thr246=)
c.675G>T (p.Thr225=)
n.816G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348710C=CA2211942464UMODc.591G= (p.Thr197=)
c.690G= (p.Thr230=)
c.738G= (p.Thr246=)
c.675G= (p.Thr225=)
n.816G=
16g.20348710C>GCA494096920UMODc.591G>C (p.Thr197=)
c.690G>C (p.Thr230=)
c.738G>C (p.Thr246=)
c.675G>C (p.Thr225=)
n.816G>C
16g.20348710C>TCA494096918UMODc.591G>A (p.Thr197=)
c.690G>A (p.Thr230=)
c.738G>A (p.Thr246=)
c.675G>A (p.Thr225=)
n.816G>A
 gnomAD v4 COSMIC COSMIC
16g.20348711G>ACA7939431UMODc.590C>T (p.Thr197Met)
c.689C>T (p.Thr230Met)
c.737C>T (p.Thr246Met)
c.674C>T (p.Thr225Met)
n.815C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348711G>CCA394985372UMODc.590C>G (p.Thr197Arg)
c.689C>G (p.Thr230Arg)
c.737C>G (p.Thr246Arg)
c.674C>G (p.Thr225Arg)
n.815C>G
16g.20348711G=CA2211942468UMODc.590C= (p.Thr197=)
c.689C= (p.Thr230=)
c.737C= (p.Thr246=)
c.674C= (p.Thr225=)
n.815C=
16g.20348711G>TCA394985373UMODc.590C>A (p.Thr197Lys)
c.689C>A (p.Thr230Lys)
c.737C>A (p.Thr246Lys)
c.674C>A (p.Thr225Lys)
n.815C>A
 gnomAD v4
16g.20348712T>ACA394985374UMODc.589A>T (p.Thr197Ser)
c.688A>T (p.Thr230Ser)
c.736A>T (p.Thr246Ser)
c.673A>T (p.Thr225Ser)
n.814A>T
 gnomAD v4
16g.20348712T>CCA394985375UMODc.589A>G (p.Thr197Ala)
c.688A>G (p.Thr230Ala)
c.736A>G (p.Thr246Ala)
c.673A>G (p.Thr225Ala)
n.814A>G
 gnomAD v4
16g.20348712T>GCA394985376UMODc.589A>C (p.Thr197Pro)
c.688A>C (p.Thr230Pro)
c.736A>C (p.Thr246Pro)
c.673A>C (p.Thr225Pro)
n.814A>C
16g.20348713G>ACA494096927UMODc.588C>T (p.Asp196=)
c.687C>T (p.Asp229=)
c.735C>T (p.Asp245=)
c.672C>T (p.Asp224=)
n.813C>T
 gnomAD v4
16g.20348713G>CCA394985377UMODc.588C>G (p.Asp196Glu)
c.687C>G (p.Asp229Glu)
c.735C>G (p.Asp245Glu)
c.672C>G (p.Asp224Glu)
n.813C>G
 ClinVar
16g.20348713G>TCA394985378UMODc.588C>A (p.Asp196Glu)
c.687C>A (p.Asp229Glu)
c.735C>A (p.Asp245Glu)
c.672C>A (p.Asp224Glu)
n.813C>A
 gnomAD v4
16g.20348714T>ACA394985379UMODc.587A>T (p.Asp196Val)
c.686A>T (p.Asp229Val)
c.734A>T (p.Asp245Val)
c.671A>T (p.Asp224Val)
n.812A>T
16g.20348714T>CCA16609397UMODc.587A>G (p.Asp196Gly)
c.686A>G (p.Asp229Gly)
c.734A>G (p.Asp245Gly)
c.671A>G (p.Asp224Gly)
n.812A>G
 ClinVar dbSNP
16g.20348714T>GCA394985380UMODc.587A>C (p.Asp196Ala)
c.686A>C (p.Asp229Ala)
c.734A>C (p.Asp245Ala)
c.671A>C (p.Asp224Ala)
n.812A>C
16g.20348714T=CA2211942476UMODc.587A= (p.Asp196=)
c.686A= (p.Asp229=)
c.734A= (p.Asp245=)
c.671A= (p.Asp224=)
n.812A=

Number of alleles fetched