Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.29814330delCA2632606209PRRT2c.880-3del (n.880-3del)
c.340-3del (n.340-3del)
c.*56-3del (n.*56-3del)
c.725-3del (n.725-3del)
c.*195-3del (n.*195-3del)
c.722-3del (n.722-3del)
c.340-14del (n.340-14del)
c.*376del (n.*376del)
c.880-14del (n.880-14del)
 gnomAD v4
16g.29814329C>ACA622164916PRRT2c.880-4C>A (n.880-4C>A)
c.340-4C>A (n.340-4C>A)
c.*56-4C>A (n.*56-4C>A)
c.725-4C>A (n.725-4C>A)
c.*195-4C>A (n.*195-4C>A)
c.722-4C>A (n.722-4C>A)
c.340-15C>A (n.340-15C>A)
c.*375C>A (n.*375C>A)
c.880-15C>A (n.880-15C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.29814329C=CA2216294493PRRT2c.880-4C= (n.880-4C=)
c.340-4C= (n.340-4C=)
c.*56-4C= (n.*56-4C=)
c.725-4C= (n.725-4C=)
c.*195-4C= (n.*195-4C=)
c.722-4C= (n.722-4C=)
c.340-15C= (n.340-15C=)
c.*375C= (n.*375C=)
c.880-15C= (n.880-15C=)
16g.29814329C>TCA2632606225PRRT2c.880-4C>T (n.880-4C>T)
c.340-4C>T (n.340-4C>T)
c.*56-4C>T (n.*56-4C>T)
c.725-4C>T (n.725-4C>T)
c.*195-4C>T (n.*195-4C>T)
c.722-4C>T (n.722-4C>T)
c.340-15C>T (n.340-15C>T)
c.*375C>T (n.*375C>T)
c.880-15C>T (n.880-15C>T)
 gnomAD v4
16g.29814330C>ACA2632606228PRRT2c.880-3C>A (n.880-3C>A)
c.340-3C>A (n.340-3C>A)
c.*56-3C>A (n.*56-3C>A)
c.725-3C>A (n.725-3C>A)
c.*195-3C>A (n.*195-3C>A)
c.722-3C>A (n.722-3C>A)
c.340-14C>A (n.340-14C>A)
c.*376C>A (n.*376C>A)
c.880-14C>A (n.880-14C>A)
 gnomAD v4
16g.29814330_29814331delCA2695223035PRRT2c.880-3_880-2del (n.880-3_880-2del)
c.340-3_340-2del (n.340-3_340-2del)
c.*56-3_*56-2del (n.*56-3_*56-2del)
c.725-3_725-2del (n.725-3_725-2del)
c.*195-3_*195-2del (n.*195-3_*195-2del)
c.722-3_722-2del (n.722-3_722-2del)
c.340-14_340-13del (n.340-14_340-13del)
c.*376_*377del (n.*376_*377del)
c.880-14_880-13del (n.880-14_880-13del)
16g.29814331A>CCA395480446PRRT2c.880-2A>C (n.880-2A>C)
c.340-2A>C (n.340-2A>C)
c.*56-2A>C (n.*56-2A>C)
c.725-2A>C (n.725-2A>C)
c.*195-2A>C (n.*195-2A>C)
c.722-2A>C (n.722-2A>C)
c.340-13A>C (n.340-13A>C)
c.*377A>C (n.*377A>C)
c.880-13A>C (n.880-13A>C)
16g.29814331A>GCA395480447PRRT2c.880-2A>G (n.880-2A>G)
c.340-2A>G (n.340-2A>G)
c.*56-2A>G (n.*56-2A>G)
c.725-2A>G (n.725-2A>G)
c.*195-2A>G (n.*195-2A>G)
c.722-2A>G (n.722-2A>G)
c.340-13A>G (n.340-13A>G)
c.*377A>G (n.*377A>G)
c.880-13A>G (n.880-13A>G)
16g.29814331A>TCA395480449PRRT2c.880-2A>T (n.880-2A>T)
c.340-2A>T (n.340-2A>T)
c.*56-2A>T (n.*56-2A>T)
c.725-2A>T (n.725-2A>T)
c.*195-2A>T (n.*195-2A>T)
c.722-2A>T (n.722-2A>T)
c.340-13A>T (n.340-13A>T)
c.*377A>T (n.*377A>T)
c.880-13A>T (n.880-13A>T)
16g.29814332G>ACA395480454PRRT2c.880-1G>A (n.880-1G>A)
c.340-1G>A (n.340-1G>A)
c.*56-1G>A (n.*56-1G>A)
c.725-1G>A (n.725-1G>A)
c.*195-1G>A (n.*195-1G>A)
c.722-1G>A (n.722-1G>A)
c.340-12G>A (n.340-12G>A)
c.*378G>A (n.*378G>A)
c.880-12G>A (n.880-12G>A)
 ClinVar dbSNP
16g.29814332G>CCA395480453PRRT2c.880-1G>C (n.880-1G>C)
c.340-1G>C (n.340-1G>C)
c.*56-1G>C (n.*56-1G>C)
c.725-1G>C (n.725-1G>C)
c.*195-1G>C (n.*195-1G>C)
c.722-1G>C (n.722-1G>C)
c.340-12G>C (n.340-12G>C)
c.*378G>C (n.*378G>C)
c.880-12G>C (n.880-12G>C)
 ClinVar dbSNP
16g.29814332G=CA2216294494PRRT2c.880-1G= (n.880-1G=)
c.340-1G= (n.340-1G=)
c.*56-1G= (n.*56-1G=)
c.725-1G= (n.725-1G=)
c.*195-1G= (n.*195-1G=)
c.722-1G= (n.722-1G=)
c.340-12G= (n.340-12G=)
c.*378G= (n.*378G=)
c.880-12G= (n.880-12G=)
16g.29814332G>TCA395480451PRRT2c.880-1G>T (n.880-1G>T)
c.340-1G>T (n.340-1G>T)
c.*56-1G>T (n.*56-1G>T)
c.725-1G>T (n.725-1G>T)
c.*195-1G>T (n.*195-1G>T)
c.722-1G>T (n.722-1G>T)
c.340-12G>T (n.340-12G>T)
c.*378G>T (n.*378G>T)
c.880-12G>T (n.880-12G>T)
 ClinVar dbSNP gnomAD v4
16g.29814333T>ACA395480455PRRT2c.880T>A (p.Ser294Thr)
c.340T>A (p.Ser114Thr)
c.*56T>A (n.*56T>A)
c.725T>A (p.Ile242Asn)
c.*195T>A (n.*195T>A)
c.722T>A (p.Val241Asp)
c.340-11T>A (n.340-11T>A)
c.*379T>A (n.*379T>A)
c.880-11T>A (n.880-11T>A)
16g.29814333T>CCA395480456PRRT2c.880T>C (p.Ser294Pro)
c.340T>C (p.Ser114Pro)
c.*56T>C (n.*56T>C)
c.725T>C (p.Ile242Thr)
c.*195T>C (n.*195T>C)
c.722T>C (p.Val241Ala)
c.340-11T>C (n.340-11T>C)
c.*379T>C (n.*379T>C)
c.880-11T>C (n.880-11T>C)
16g.29814333T>GCA395480458PRRT2c.880T>G (p.Ser294Ala)
c.340T>G (p.Ser114Ala)
c.*56T>G (n.*56T>G)
c.725T>G (p.Ile242Ser)
c.*195T>G (n.*195T>G)
c.722T>G (p.Val241Gly)
c.340-11T>G (n.340-11T>G)
c.*379T>G (n.*379T>G)
c.880-11T>G (n.880-11T>G)
 gnomAD v4
16g.29814334C>ACA395480460PRRT2c.881C>A (p.Ser294Tyr)
c.341C>A (p.Ser114Tyr)
c.*57C>A (n.*57C>A)
c.726C>A (p.Ile242=)
c.*196C>A (n.*196C>A)
c.723C>A (p.Val241=)
c.340-10C>A (n.340-10C>A)
c.*380C>A (n.*380C>A)
c.880-10C>A (n.880-10C>A)
 gnomAD v4
16g.29814334C>GCA395480462PRRT2c.881C>G (p.Ser294Cys)
c.341C>G (p.Ser114Cys)
c.*57C>G (n.*57C>G)
c.726C>G (p.Ile242Met)
c.*196C>G (n.*196C>G)
c.723C>G (p.Val241=)
c.340-10C>G (n.340-10C>G)
c.*380C>G (n.*380C>G)
c.880-10C>G (n.880-10C>G)
16g.29814334C>TCA395480463PRRT2c.881C>T (p.Ser294Phe)
c.341C>T (p.Ser114Phe)
c.*57C>T (n.*57C>T)
c.726C>T (p.Ile242=)
c.*196C>T (n.*196C>T)
c.723C>T (p.Val241=)
c.340-10C>T (n.340-10C>T)
c.*380C>T (n.*380C>T)
c.880-10C>T (n.880-10C>T)
 gnomAD v4 COSMIC COSMIC
16g.29814335C>ACA494582628PRRT2c.882C>A (p.Ser294=)
c.342C>A (p.Ser114=)
c.*58C>A (n.*58C>A)
c.727C>A (p.Pro243Thr)
c.*197C>A (n.*197C>A)
c.724C>A (p.Pro242Thr)
c.340-9C>A (n.340-9C>A)
c.*381C>A (n.*381C>A)
c.880-9C>A (n.880-9C>A)
16g.29814335C>GCA494582629PRRT2c.882C>G (p.Ser294=)
c.342C>G (p.Ser114=)
c.*58C>G (n.*58C>G)
c.727C>G (p.Pro243Ala)
c.*197C>G (n.*197C>G)
c.724C>G (p.Pro242Ala)
c.340-9C>G (n.340-9C>G)
c.*381C>G (n.*381C>G)
c.880-9C>G (n.880-9C>G)
16g.29814335C>TCA494582630PRRT2c.882C>T (p.Ser294=)
c.342C>T (p.Ser114=)
c.*58C>T (n.*58C>T)
c.727C>T (p.Pro243Ser)
c.*197C>T (n.*197C>T)
c.724C>T (p.Pro242Ser)
c.340-9C>T (n.340-9C>T)
c.*381C>T (n.*381C>T)
c.880-9C>T (n.880-9C>T)
 gnomAD v4
16g.29814336C>ACA494582633PRRT2c.883C>A (p.Arg295=)
c.343C>A (p.Arg115=)
c.*59C>A (n.*59C>A)
c.728C>A (p.Pro243Gln)
c.*198C>A (n.*198C>A)
c.725C>A (p.Pro242Gln)
c.340-8C>A (n.340-8C>A)
c.*382C>A (n.*382C>A)
c.880-8C>A (n.880-8C>A)
16g.29814336C=CA2216294495PRRT2c.883C= (p.Arg295=)
c.343C= (p.Arg115=)
c.*59C= (n.*59C=)
c.728C= (p.Pro243=)
c.*198C= (n.*198C=)
c.725C= (p.Pro242=)
c.340-8C= (n.340-8C=)
c.*382C= (n.*382C=)
c.880-8C= (n.880-8C=)
16g.29814336C>GCA395480465PRRT2c.883C>G (p.Arg295Gly)
c.343C>G (p.Arg115Gly)
c.*59C>G (n.*59C>G)
c.728C>G (p.Pro243Arg)
c.*198C>G (n.*198C>G)
c.725C>G (p.Pro242Arg)
c.340-8C>G (n.340-8C>G)
c.*382C>G (n.*382C>G)
c.880-8C>G (n.880-8C>G)
 gnomAD v4
16g.29814336C>TCA7994618PRRT2c.883C>T (p.Arg295Trp)
c.343C>T (p.Arg115Trp)
c.*59C>T (n.*59C>T)
c.728C>T (p.Pro243Leu)
c.*198C>T (n.*198C>T)
c.725C>T (p.Pro242Leu)
c.340-8C>T (n.340-8C>T)
c.*382C>T (n.*382C>T)
c.880-8C>T (n.880-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814337G>ACA395480467PRRT2c.884G>A (p.Arg295Gln)
c.344G>A (p.Arg115Gln)
c.*60G>A (n.*60G>A)
c.729G>A (p.Pro243=)
c.*199G>A (n.*199G>A)
c.726G>A (p.Pro242=)
c.340-7G>A (n.340-7G>A)
c.*383G>A (n.*383G>A)
c.880-7G>A (n.880-7G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.29814337G>CCA395480468PRRT2c.884G>C (p.Arg295Pro)
c.344G>C (p.Arg115Pro)
c.*60G>C (n.*60G>C)
c.729G>C (p.Pro243=)
c.*199G>C (n.*199G>C)
c.726G>C (p.Pro242=)
c.340-7G>C (n.340-7G>C)
c.*383G>C (n.*383G>C)
c.880-7G>C (n.880-7G>C)
16g.29814337G=CA2216294496PRRT2c.884G= (p.Arg295=)
c.344G= (p.Arg115=)
c.*60G= (n.*60G=)
c.729G= (p.Pro243=)
c.*199G= (n.*199G=)
c.726G= (p.Pro242=)
c.340-7G= (n.340-7G=)
c.*383G= (n.*383G=)
c.880-7G= (n.880-7G=)
16g.29814337G>TCA395480470PRRT2c.884G>T (p.Arg295Leu)
c.344G>T (p.Arg115Leu)
c.*60G>T (n.*60G>T)
c.729G>T (p.Pro243=)
c.*199G>T (n.*199G>T)
c.726G>T (p.Pro242=)
c.340-7G>T (n.340-7G>T)
c.*383G>T (n.*383G>T)
c.880-7G>T (n.880-7G>T)
 dbSNP gnomAD v4
16g.29814337_29814338delinsCTCA2573054216PRRT2c.884_885delinsCT (p.Arg295Pro)
c.344_345delinsCT (p.Arg115Pro)
c.*60_*61delinsCT (n.*60_*61delinsCT)
c.729_730delinsCT (p.Pro244Ter)
c.*199_*200delinsCT (n.*199_*200delinsCT)
c.726_727delinsCT (p.Pro243Ter)
c.340-7_340-6delinsCT (n.340-7_340-6delinsCT)
c.*383_*384delinsCT (n.*383_*384delinsCT)
c.880-7_880-6delinsCT (n.880-7_880-6delinsCT)
 ClinVar dbSNP
16g.29814338delCA2580091514PRRT2c.885del (p.Asn296ThrfsTer17)
c.345del (p.Asn116ThrfsTer17)
c.*61del (n.*61del)
c.730del (p.Glu244AsnfsTer?)
c.*200del (n.*200del)
c.727del (p.Glu243AsnfsTer?)
c.340-6del (n.340-6del)
c.*384del (n.*384del)
c.880-6del (n.880-6del)
 ClinVar
16g.29814337_29814340dupCA2695223036PRRT2c.884_887dup (p.Asn296LysfsTer?)
c.344_347dup (p.Asn116LysfsTer?)
c.*60_*63dup (n.*60_*63dup)
c.729_732dup (p.Gln245GlyfsTer18)
c.*199_*202dup (n.*199_*202dup)
c.726_729dup (p.Gln244GlyfsTer18)
c.340-7_340-4dup (n.340-7_340-4dup)
c.*383_*386dup (n.*383_*386dup)
c.880-7_880-4dup (n.880-7_880-4dup)
16g.29814338G>ACA494582638PRRT2c.885G>A (p.Arg295=)
c.345G>A (p.Arg115=)
c.*61G>A (n.*61G>A)
c.730G>A (p.Glu244Lys)
c.*200G>A (n.*200G>A)
c.727G>A (p.Glu243Lys)
c.340-6G>A (n.340-6G>A)
c.*384G>A (n.*384G>A)
c.880-6G>A (n.880-6G>A)
 COSMIC COSMIC
16g.29814338G>CCA494582641PRRT2c.885G>C (p.Arg295=)
c.345G>C (p.Arg115=)
c.*61G>C (n.*61G>C)
c.730G>C (p.Glu244Gln)
c.*200G>C (n.*200G>C)
c.727G>C (p.Glu243Gln)
c.340-6G>C (n.340-6G>C)
c.*384G>C (n.*384G>C)
c.880-6G>C (n.880-6G>C)
16g.29814338G>TCA494582639PRRT2c.885G>T (p.Arg295=)
c.345G>T (p.Arg115=)
c.*61G>T (n.*61G>T)
c.730G>T (p.Glu244Ter)
c.*200G>T (n.*200G>T)
c.727G>T (p.Glu243Ter)
c.340-6G>T (n.340-6G>T)
c.*384G>T (n.*384G>T)
c.880-6G>T (n.880-6G>T)
 gnomAD v4
16g.29814339A=CA2216294497PRRT2c.886A= (p.Asn296=)
c.346A= (p.Asn116=)
c.*62A= (n.*62A=)
c.731A= (p.Glu244=)
c.*201A= (n.*201A=)
c.728A= (p.Glu243=)
c.340-5A= (n.340-5A=)
c.*385A= (n.*385A=)
c.880-5A= (n.880-5A=)
16g.29814339A>CCA395480472PRRT2c.886A>C (p.Asn296His)
c.346A>C (p.Asn116His)
c.*62A>C (n.*62A>C)
c.731A>C (p.Glu244Ala)
c.*201A>C (n.*201A>C)
c.728A>C (p.Glu243Ala)
c.340-5A>C (n.340-5A>C)
c.*385A>C (n.*385A>C)
c.880-5A>C (n.880-5A>C)
 dbSNP gnomAD v2
16g.29814339A>GCA395480473PRRT2c.886A>G (p.Asn296Asp)
c.346A>G (p.Asn116Asp)
c.*62A>G (n.*62A>G)
c.731A>G (p.Glu244Gly)
c.*201A>G (n.*201A>G)
c.728A>G (p.Glu243Gly)
c.340-5A>G (n.340-5A>G)
c.*385A>G (n.*385A>G)
c.880-5A>G (n.880-5A>G)
 gnomAD v4
16g.29814339A>TCA395480475PRRT2c.886A>T (p.Asn296Tyr)
c.346A>T (p.Asn116Tyr)
c.*62A>T (n.*62A>T)
c.731A>T (p.Glu244Val)
c.*201A>T (n.*201A>T)
c.728A>T (p.Glu243Val)
c.340-5A>T (n.340-5A>T)
c.*385A>T (n.*385A>T)
c.880-5A>T (n.880-5A>T)
 ClinVar
16g.29814340A=CA2216294498PRRT2c.887A= (p.Asn296=)
c.347A= (p.Asn116=)
c.*63A= (n.*63A=)
c.732A= (p.Glu244=)
c.*202A= (n.*202A=)
c.729A= (p.Glu243=)
c.340-4A= (n.340-4A=)
c.*386A= (n.*386A=)
c.880-4A= (n.880-4A=)
16g.29814340A>CCA395480477PRRT2c.887A>C (p.Asn296Thr)
c.347A>C (p.Asn116Thr)
c.*63A>C (n.*63A>C)
c.732A>C (p.Glu244Asp)
c.*202A>C (n.*202A>C)
c.729A>C (p.Glu243Asp)
c.340-4A>C (n.340-4A>C)
c.*386A>C (n.*386A>C)
c.880-4A>C (n.880-4A>C)
 dbSNP
16g.29814340A>GCA395480479PRRT2c.887A>G (p.Asn296Ser)
c.347A>G (p.Asn116Ser)
c.*63A>G (n.*63A>G)
c.732A>G (p.Glu244=)
c.*202A>G (n.*202A>G)
c.729A>G (p.Glu243=)
c.340-4A>G (n.340-4A>G)
c.*386A>G (n.*386A>G)
c.880-4A>G (n.880-4A>G)
 gnomAD v4
16g.29814340A>TCA395480476PRRT2c.887A>T (p.Asn296Ile)
c.347A>T (p.Asn116Ile)
c.*63A>T (n.*63A>T)
c.732A>T (p.Glu244Asp)
c.*202A>T (n.*202A>T)
c.729A>T (p.Glu243Asp)
c.340-4A>T (n.340-4A>T)
c.*386A>T (n.*386A>T)
c.880-4A>T (n.880-4A>T)
16g.29814341C>ACA395480480PRRT2c.888C>A (p.Asn296Lys)
c.348C>A (p.Asn116Lys)
c.*64C>A (n.*64C>A)
c.733C>A (p.Gln245Lys)
c.*203C>A (n.*203C>A)
c.730C>A (p.Gln244Lys)
c.340-3C>A (n.340-3C>A)
c.*387C>A (n.*387C>A)
c.880-3C>A (n.880-3C>A)
16g.29814341C>GCA395480482PRRT2c.888C>G (p.Asn296Lys)
c.348C>G (p.Asn116Lys)
c.*64C>G (n.*64C>G)
c.733C>G (p.Gln245Glu)
c.*203C>G (n.*203C>G)
c.730C>G (p.Gln244Glu)
c.340-3C>G (n.340-3C>G)
c.*387C>G (n.*387C>G)
c.880-3C>G (n.880-3C>G)
16g.29814341C>TCA494582647PRRT2c.888C>T (p.Asn296=)
c.348C>T (p.Asn116=)
c.*64C>T (n.*64C>T)
c.733C>T (p.Gln245Ter)
c.*203C>T (n.*203C>T)
c.730C>T (p.Gln244Ter)
c.340-3C>T (n.340-3C>T)
c.*387C>T (n.*387C>T)
c.880-3C>T (n.880-3C>T)
 gnomAD v4
16g.29814345_29814351delCA2632606272PRRT2c.892_898del (p.Leu298ArgfsTer13)
c.352_358del (p.Leu118ArgfsTer13)
c.*68_*74del (n.*68_*74del)
c.737_743del (p.Pro246GlnfsTer?)
c.*207_*213del (n.*207_*213del)
c.734_740del (p.Pro245GlnfsTer?)
c.341_347del
c.*391_*397del (n.*391_*397del)
c.881_887del
 gnomAD v4
16g.29814342A>CCA395480484PRRT2c.889A>C (p.Ser297Arg)
c.349A>C (p.Ser117Arg)
c.*65A>C (n.*65A>C)
c.734A>C (p.Gln245Pro)
c.*204A>C (n.*204A>C)
c.731A>C (p.Gln244Pro)
c.340-2A>C (n.340-2A>C)
c.*388A>C (n.*388A>C)
c.880-2A>C (n.880-2A>C)
16g.29814342A>GCA395480485PRRT2c.889A>G (p.Ser297Gly)
c.349A>G (p.Ser117Gly)
c.*65A>G (n.*65A>G)
c.734A>G (p.Gln245Arg)
c.*204A>G (n.*204A>G)
c.731A>G (p.Gln244Arg)
c.340-2A>G (n.340-2A>G)
c.*388A>G (n.*388A>G)
c.880-2A>G (n.880-2A>G)
16g.29814342A>TCA395480487PRRT2c.889A>T (p.Ser297Cys)
c.349A>T (p.Ser117Cys)
c.*65A>T (n.*65A>T)
c.734A>T (p.Gln245Leu)
c.*204A>T (n.*204A>T)
c.731A>T (p.Gln244Leu)
c.340-2A>T (n.340-2A>T)
c.*388A>T (n.*388A>T)
c.880-2A>T (n.880-2A>T)
16g.29814343G>ACA395480488PRRT2c.890G>A (p.Ser297Asn)
c.350G>A (p.Ser117Asn)
c.*66G>A (n.*66G>A)
c.735G>A (p.Gln245=)
c.*205G>A (n.*205G>A)
c.732G>A (p.Gln244=)
c.340-1G>A (n.340-1G>A)
c.*389G>A (n.*389G>A)
c.880-1G>A (n.880-1G>A)
16g.29814343G>CCA395480490PRRT2c.890G>C (p.Ser297Thr)
c.350G>C (p.Ser117Thr)
c.*66G>C (n.*66G>C)
c.735G>C (p.Gln245His)
c.*205G>C (n.*205G>C)
c.732G>C (p.Gln244His)
c.340-1G>C (n.340-1G>C)
c.*389G>C (n.*389G>C)
c.880-1G>C (n.880-1G>C)
16g.29814343G>TCA395480491PRRT2c.890G>T (p.Ser297Ile)
c.350G>T (p.Ser117Ile)
c.*66G>T (n.*66G>T)
c.735G>T (p.Gln245His)
c.*205G>T (n.*205G>T)
c.732G>T (p.Gln244His)
c.340-1G>T (n.340-1G>T)
c.*389G>T (n.*389G>T)
c.880-1G>T (n.880-1G>T)
 gnomAD v4
16g.29814344C>ACA395480495PRRT2c.891C>A (p.Ser297Arg)
c.351C>A (p.Ser117Arg)
c.*67C>A (n.*67C>A)
c.736C>A (p.Pro246Thr)
c.*206C>A (n.*206C>A)
c.733C>A (p.Pro245Thr)
c.340C>A (p.Pro114Thr)
c.*390C>A (n.*390C>A)
c.880C>A (p.Pro294Thr)
 gnomAD v4
16g.29814344C=CA2216294499PRRT2c.891C= (p.Ser297=)
c.351C= (p.Ser117=)
c.*67C= (n.*67C=)
c.736C= (p.Pro246=)
c.*206C= (n.*206C=)
c.733C= (p.Pro245=)
c.340C= (p.Pro114=)
c.*390C= (n.*390C=)
c.880C= (p.Pro294=)
16g.29814344C>GCA395480496PRRT2c.891C>G (p.Ser297Arg)
c.351C>G (p.Ser117Arg)
c.*67C>G (n.*67C>G)
c.736C>G (p.Pro246Ala)
c.*206C>G (n.*206C>G)
c.733C>G (p.Pro245Ala)
c.340C>G (p.Pro114Ala)
c.*390C>G (n.*390C>G)
c.880C>G (p.Pro294Ala)
 ClinVar dbSNP
16g.29814344C>TCA494582654PRRT2c.891C>T (p.Ser297=)
c.351C>T (p.Ser117=)
c.*67C>T (n.*67C>T)
c.736C>T (p.Pro246Ser)
c.*206C>T (n.*206C>T)
c.733C>T (p.Pro245Ser)
c.340C>T (p.Pro114Ser)
c.*390C>T (n.*390C>T)
c.880C>T (p.Pro294Ser)
 gnomAD v4
16g.29814345C>ACA395480498PRRT2c.892C>A (p.Leu298Met)
c.352C>A (p.Leu118Met)
c.*68C>A (n.*68C>A)
c.737C>A (p.Pro246His)
c.*207C>A (n.*207C>A)
c.734C>A (p.Pro245His)
c.341C>A (p.Pro114His)
c.*391C>A (n.*391C>A)
c.881C>A (p.Pro294His)
 gnomAD v4
16g.29814345C=CA2216294500PRRT2c.892C= (p.Leu298=)
c.352C= (p.Leu118=)
c.*68C= (n.*68C=)
c.737C= (p.Pro246=)
c.*207C= (n.*207C=)
c.734C= (p.Pro245=)
c.341C= (p.Pro114=)
c.*391C= (n.*391C=)
c.881C= (p.Pro294=)
16g.29814345C>GCA395480500PRRT2c.892C>G (p.Leu298Val)
c.352C>G (p.Leu118Val)
c.*68C>G (n.*68C>G)
c.737C>G (p.Pro246Arg)
c.*207C>G (n.*207C>G)
c.734C>G (p.Pro245Arg)
c.341C>G (p.Pro114Arg)
c.*391C>G (n.*391C>G)
c.881C>G (p.Pro294Arg)
16g.29814345C>TCA7994619PRRT2c.892C>T (p.Leu298=)
c.352C>T (p.Leu118=)
c.*68C>T (n.*68C>T)
c.737C>T (p.Pro246Leu)
c.*207C>T (n.*207C>T)
c.734C>T (p.Pro245Leu)
c.341C>T (p.Pro114Leu)
c.*391C>T (n.*391C>T)
c.881C>T (p.Pro294Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.29814346T>ACA395480502PRRT2c.893T>A (p.Leu298Gln)
c.353T>A (p.Leu118Gln)
c.*69T>A (n.*69T>A)
c.738T>A (p.Pro246=)
c.*208T>A (n.*208T>A)
c.735T>A (p.Pro245=)
c.342T>A (p.Pro114=)
c.*392T>A (n.*392T>A)
c.882T>A (p.Pro294=)
16g.29814346T>CCA395480506PRRT2c.893T>C (p.Leu298Pro)
c.353T>C (p.Leu118Pro)
c.*69T>C (n.*69T>C)
c.738T>C (p.Pro246=)
c.*208T>C (n.*208T>C)
c.735T>C (p.Pro245=)
c.342T>C (p.Pro114=)
c.*392T>C (n.*392T>C)
c.882T>C (p.Pro294=)
 gnomAD v4
16g.29814346T>GCA395480504PRRT2c.893T>G (p.Leu298Arg)
c.353T>G (p.Leu118Arg)
c.*69T>G (n.*69T>G)
c.738T>G (p.Pro246=)
c.*208T>G (n.*208T>G)
c.735T>G (p.Pro245=)
c.342T>G (p.Pro114=)
c.*392T>G (n.*392T>G)
c.882T>G (p.Pro294=)
16g.29814347G>ACA494582663PRRT2c.894G>A (p.Leu298=)
c.354G>A (p.Leu118=)
c.*70G>A (n.*70G>A)
c.739G>A (p.Ala247Thr)
c.*209G>A (n.*209G>A)
c.736G>A (p.Ala246Thr)
c.343G>A (p.Ala115Thr)
c.*393G>A (n.*393G>A)
c.883G>A (p.Ala295Thr)
 gnomAD v4
16g.29814347G>CCA494582662PRRT2c.894G>C (p.Leu298=)
c.354G>C (p.Leu118=)
c.*70G>C (n.*70G>C)
c.739G>C (p.Ala247Pro)
c.*209G>C (n.*209G>C)
c.736G>C (p.Ala246Pro)
c.343G>C (p.Ala115Pro)
c.*393G>C (n.*393G>C)
c.883G>C (p.Ala295Pro)
16g.29814347G>TCA494582661PRRT2c.894G>T (p.Leu298=)
c.354G>T (p.Leu118=)
c.*70G>T (n.*70G>T)
c.739G>T (p.Ala247Ser)
c.*209G>T (n.*209G>T)
c.736G>T (p.Ala246Ser)
c.343G>T (p.Ala115Ser)
c.*393G>T (n.*393G>T)
c.883G>T (p.Ala295Ser)
 gnomAD v4
16g.29814348C>ACA395480507PRRT2c.895C>A (p.Gln299Lys)
c.355C>A (p.Gln119Lys)
c.*71C>A (n.*71C>A)
c.740C>A (p.Ala247Glu)
c.*210C>A (n.*210C>A)
c.737C>A (p.Ala246Glu)
c.344C>A (p.Ala115Glu)
c.*394C>A (n.*394C>A)
c.884C>A (p.Ala295Glu)
 gnomAD v4
16g.29814348C>GCA395480508PRRT2c.895C>G (p.Gln299Glu)
c.355C>G (p.Gln119Glu)
c.*71C>G (n.*71C>G)
c.740C>G (p.Ala247Gly)
c.*210C>G (n.*210C>G)
c.737C>G (p.Ala246Gly)
c.344C>G (p.Ala115Gly)
c.*394C>G (n.*394C>G)
c.884C>G (p.Ala295Gly)
16g.29814348C>TCA395480510PRRT2c.895C>T (p.Gln299Ter)
c.355C>T (p.Gln119Ter)
c.*71C>T (n.*71C>T)
c.740C>T (p.Ala247Val)
c.*210C>T (n.*210C>T)
c.737C>T (p.Ala246Val)
c.344C>T (p.Ala115Val)
c.*394C>T (n.*394C>T)
c.884C>T (p.Ala295Val)
 ClinVar gnomAD v4
16g.29814349A>CCA395480512PRRT2c.896A>C (p.Gln299Pro)
c.356A>C (p.Gln119Pro)
c.*72A>C (n.*72A>C)
c.741A>C (p.Ala247=)
c.*211A>C (n.*211A>C)
c.738A>C (p.Ala246=)
c.345A>C (p.Ala115=)
c.*395A>C (n.*395A>C)
c.885A>C (p.Ala295=)
 ClinVar dbSNP
16g.29814349A>GCA395480513PRRT2c.896A>G (p.Gln299Arg)
c.356A>G (p.Gln119Arg)
c.*72A>G (n.*72A>G)
c.741A>G (p.Ala247=)
c.*211A>G (n.*211A>G)
c.738A>G (p.Ala246=)
c.345A>G (p.Ala115=)
c.*395A>G (n.*395A>G)
c.885A>G (p.Ala295=)
 ClinVar gnomAD v4
16g.29814349A>TCA395480515PRRT2c.896A>T (p.Gln299Leu)
c.356A>T (p.Gln119Leu)
c.*72A>T (n.*72A>T)
c.741A>T (p.Ala247=)
c.*211A>T (n.*211A>T)
c.738A>T (p.Ala246=)
c.345A>T (p.Ala115=)
c.*395A>T (n.*395A>T)
c.885A>T (p.Ala295=)
16g.29814350G>ACA494582670PRRT2c.897G>A (p.Gln299=)
c.357G>A (p.Gln119=)
c.*73G>A (n.*73G>A)
c.742G>A (p.Ala248Thr)
c.*212G>A (n.*212G>A)
c.739G>A (p.Ala247Thr)
c.346G>A (p.Ala116Thr)
c.*396G>A (n.*396G>A)
c.886G>A (p.Ala296Thr)
 COSMIC COSMIC
16g.29814350G>CCA395480516PRRT2c.897G>C (p.Gln299His)
c.357G>C (p.Gln119His)
c.*73G>C (n.*73G>C)
c.742G>C (p.Ala248Pro)
c.*212G>C (n.*212G>C)
c.739G>C (p.Ala247Pro)
c.346G>C (p.Ala116Pro)
c.*396G>C (n.*396G>C)
c.886G>C (p.Ala296Pro)
16g.29814350G>TCA395480517PRRT2c.897G>T (p.Gln299His)
c.357G>T (p.Gln119His)
c.*73G>T (n.*73G>T)
c.742G>T (p.Ala248Ser)
c.*212G>T (n.*212G>T)
c.739G>T (p.Ala247Ser)
c.346G>T (p.Ala116Ser)
c.*396G>T (n.*396G>T)
c.886G>T (p.Ala296Ser)
 gnomAD v4
16g.29814351C>ACA395480519PRRT2c.898C>A (p.Gln300Lys)
c.358C>A (p.Gln120Lys)
c.*74C>A (n.*74C>A)
c.743C>A (p.Ala248Glu)
c.*213C>A (n.*213C>A)
c.740C>A (p.Ala247Glu)
c.347C>A (p.Ala116Glu)
c.*397C>A (n.*397C>A)
c.887C>A (p.Ala296Glu)
 gnomAD v4
16g.29814351C>GCA395480521PRRT2c.898C>G (p.Gln300Glu)
c.358C>G (p.Gln120Glu)
c.*74C>G (n.*74C>G)
c.743C>G (p.Ala248Gly)
c.*213C>G (n.*213C>G)
c.740C>G (p.Ala247Gly)
c.347C>G (p.Ala116Gly)
c.*397C>G (n.*397C>G)
c.887C>G (p.Ala296Gly)
16g.29814351C>TCA395480522PRRT2c.898C>T (p.Gln300Ter)
c.358C>T (p.Gln120Ter)
c.*74C>T (n.*74C>T)
c.743C>T (p.Ala248Val)
c.*213C>T (n.*213C>T)
c.740C>T (p.Ala247Val)
c.347C>T (p.Ala116Val)
c.*397C>T (n.*397C>T)
c.887C>T (p.Ala296Val)
 gnomAD v4
16g.29814352A>CCA395480526PRRT2c.899A>C (p.Gln300Pro)
c.359A>C (p.Gln120Pro)
c.*75A>C (n.*75A>C)
c.744A>C (p.Ala248=)
c.*214A>C (n.*214A>C)
c.741A>C (p.Ala247=)
c.348A>C (p.Ala116=)
c.*398A>C (n.*398A>C)
c.888A>C (p.Ala296=)
16g.29814352A>GCA395480525PRRT2c.899A>G (p.Gln300Arg)
c.359A>G (p.Gln120Arg)
c.*75A>G (n.*75A>G)
c.744A>G (p.Ala248=)
c.*214A>G (n.*214A>G)
c.741A>G (p.Ala247=)
c.348A>G (p.Ala116=)
c.*398A>G (n.*398A>G)
c.888A>G (p.Ala296=)
16g.29814352A>TCA395480524PRRT2c.899A>T (p.Gln300Leu)
c.359A>T (p.Gln120Leu)
c.*75A>T (n.*75A>T)
c.744A>T (p.Ala248=)
c.*214A>T (n.*214A>T)
c.741A>T (p.Ala247=)
c.348A>T (p.Ala116=)
c.*398A>T (n.*398A>T)
c.888A>T (p.Ala296=)
16g.29814353G>ACA494582677PRRT2c.900G>A (p.Gln300=)
c.360G>A (p.Gln120=)
c.*76G>A (n.*76G>A)
c.745G>A (p.Gly249Arg)
c.*215G>A (n.*215G>A)
c.742G>A (p.Gly248Arg)
c.349G>A (p.Gly117Arg)
c.*399G>A (n.*399G>A)
c.889G>A (p.Gly297Arg)
 gnomAD v4
16g.29814353G>CCA395480530PRRT2c.900G>C (p.Gln300His)
c.360G>C (p.Gln120His)
c.*76G>C (n.*76G>C)
c.745G>C (p.Gly249Arg)
c.*215G>C (n.*215G>C)
c.742G>C (p.Gly248Arg)
c.349G>C (p.Gly117Arg)
c.*399G>C (n.*399G>C)
c.889G>C (p.Gly297Arg)
16g.29814353G>TCA395480528PRRT2c.900G>T (p.Gln300His)
c.360G>T (p.Gln120His)
c.*76G>T (n.*76G>T)
c.745G>T (p.Gly249Trp)
c.*215G>T (n.*215G>T)
c.742G>T (p.Gly248Trp)
c.349G>T (p.Gly117Trp)
c.*399G>T (n.*399G>T)
c.889G>T (p.Gly297Trp)
 gnomAD v4
16g.29814357dupCA2695223037PRRT2c.904dup (p.Asp302GlyfsTer?)
c.364dup (p.Asp122GlyfsTer?)
c.*80dup (n.*80dup)
c.749dup (p.Arg251ThrfsTer11)
c.*219dup (n.*219dup)
c.746dup (p.Arg250ThrfsTer11)
c.353dup (p.Arg119ThrfsTer11)
c.*403dup (n.*403dup)
c.893dup (p.Arg299ThrfsTer11)
16g.29814357delCA2632606352PRRT2c.904del (p.Asp302ThrfsTer11)
c.364del (p.Asp122ThrfsTer11)
c.*80del (n.*80del)
c.749del (p.Gly250AspfsTer?)
c.*219del (n.*219del)
c.746del (p.Gly249AspfsTer?)
c.353del (p.Gly118AspfsTer?)
c.*403del (n.*403del)
c.893del (p.Gly298AspfsTer?)
 gnomAD v4
16g.29814354G>ACA395480531PRRT2c.901G>A (p.Gly301Arg)
c.361G>A (p.Gly121Arg)
c.*77G>A (n.*77G>A)
c.746G>A (p.Gly249Glu)
c.*216G>A (n.*216G>A)
c.743G>A (p.Gly248Glu)
c.350G>A (p.Gly117Glu)
c.*400G>A (n.*400G>A)
c.890G>A (p.Gly297Glu)
 dbSNP gnomAD v2
16g.29814354G>CCA395480532PRRT2c.901G>C (p.Gly301Arg)
c.361G>C (p.Gly121Arg)
c.*77G>C (n.*77G>C)
c.746G>C (p.Gly249Ala)
c.*216G>C (n.*216G>C)
c.743G>C (p.Gly248Ala)
c.350G>C (p.Gly117Ala)
c.*400G>C (n.*400G>C)
c.890G>C (p.Gly297Ala)
16g.29814354G=CA2216294501PRRT2c.901G= (p.Gly301=)
c.361G= (p.Gly121=)
c.*77G= (n.*77G=)
c.746G= (p.Gly249=)
c.*216G= (n.*216G=)
c.743G= (p.Gly248=)
c.350G= (p.Gly117=)
c.*400G= (n.*400G=)
c.890G= (p.Gly297=)
16g.29814354G>TCA395480533PRRT2c.901G>T (p.Gly301Trp)
c.361G>T (p.Gly121Trp)
c.*77G>T (n.*77G>T)
c.746G>T (p.Gly249Val)
c.*216G>T (n.*216G>T)
c.743G>T (p.Gly248Val)
c.350G>T (p.Gly117Val)
c.*400G>T (n.*400G>T)
c.890G>T (p.Gly297Val)
 gnomAD v4
16g.29814355G>ACA395480534PRRT2c.902G>A (p.Gly301Glu)
c.362G>A (p.Gly121Glu)
c.*78G>A (n.*78G>A)
c.747G>A (p.Gly249=)
c.*217G>A (n.*217G>A)
c.744G>A (p.Gly248=)
c.351G>A (p.Gly117=)
c.*401G>A (n.*401G>A)
c.891G>A (p.Gly297=)
16g.29814355G>CCA395480535PRRT2c.902G>C (p.Gly301Ala)
c.362G>C (p.Gly121Ala)
c.*78G>C (n.*78G>C)
c.747G>C (p.Gly249=)
c.*217G>C (n.*217G>C)
c.744G>C (p.Gly248=)
c.351G>C (p.Gly117=)
c.*401G>C (n.*401G>C)
c.891G>C (p.Gly297=)
16g.29814355G>TCA395480536PRRT2c.902G>T (p.Gly301Val)
c.362G>T (p.Gly121Val)
c.*78G>T (n.*78G>T)
c.747G>T (p.Gly249=)
c.*217G>T (n.*217G>T)
c.744G>T (p.Gly248=)
c.351G>T (p.Gly117=)
c.*401G>T (n.*401G>T)
c.891G>T (p.Gly297=)
 gnomAD v4
16g.29814356G>ACA494582684PRRT2c.903G>A (p.Gly301=)
c.363G>A (p.Gly121=)
c.*79G>A (n.*79G>A)
c.748G>A (p.Gly250Arg)
c.*218G>A (n.*218G>A)
c.745G>A (p.Gly249Arg)
c.352G>A (p.Gly118Arg)
c.*402G>A (n.*402G>A)
c.892G>A (p.Gly298Arg)
 gnomAD v4
16g.29814356G>CCA494582685PRRT2c.903G>C (p.Gly301=)
c.363G>C (p.Gly121=)
c.*79G>C (n.*79G>C)
c.748G>C (p.Gly250Arg)
c.*218G>C (n.*218G>C)
c.745G>C (p.Gly249Arg)
c.352G>C (p.Gly118Arg)
c.*402G>C (n.*402G>C)
c.892G>C (p.Gly298Arg)
16g.29814356G>TCA494582687PRRT2c.903G>T (p.Gly301=)
c.363G>T (p.Gly121=)
c.*79G>T (n.*79G>T)
c.748G>T (p.Gly250Ter)
c.*218G>T (n.*218G>T)
c.745G>T (p.Gly249Ter)
c.352G>T (p.Gly118Ter)
c.*402G>T (n.*402G>T)
c.892G>T (p.Gly298Ter)
 gnomAD v4
16g.29814357G>ACA395480539PRRT2c.904G>A (p.Asp302Asn)
c.364G>A (p.Asp122Asn)
c.*80G>A (n.*80G>A)
c.749G>A (p.Gly250Glu)
c.*219G>A (n.*219G>A)
c.746G>A (p.Gly249Glu)
c.353G>A (p.Gly118Glu)
c.*403G>A (n.*403G>A)
c.893G>A (p.Gly298Glu)
 dbSNP gnomAD v3 gnomAD v4
16g.29814357G>CCA7994620PRRT2c.904G>C (p.Asp302His)
c.364G>C (p.Asp122His)
c.*80G>C (n.*80G>C)
c.749G>C (p.Gly250Ala)
c.*219G>C (n.*219G>C)
c.746G>C (p.Gly249Ala)
c.353G>C (p.Gly118Ala)
c.*403G>C (n.*403G>C)
c.893G>C (p.Gly298Ala)
 dbSNP ExAC gnomAD v2
16g.29814357G=CA2216294502PRRT2c.904G= (p.Asp302=)
c.364G= (p.Asp122=)
c.*80G= (n.*80G=)
c.749G= (p.Gly250=)
c.*219G= (n.*219G=)
c.746G= (p.Gly249=)
c.353G= (p.Gly118=)
c.*403G= (n.*403G=)
c.893G= (p.Gly298=)
16g.29814357G>TCA7994621PRRT2c.904G>T (p.Asp302Tyr)
c.364G>T (p.Asp122Tyr)
c.*80G>T (n.*80G>T)
c.749G>T (p.Gly250Val)
c.*219G>T (n.*219G>T)
c.746G>T (p.Gly249Val)
c.353G>T (p.Gly118Val)
c.*403G>T (n.*403G>T)
c.893G>T (p.Gly298Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.29814357_29814358delinsTCA2580091515PRRT2c.904_905delinsT (p.Asp302SerfsTer11)
c.364_365delinsT (p.Asp122SerfsTer11)
c.*80_*81delinsT (n.*80_*81delinsT)
c.749_750delinsT (p.Gly250ValfsTer?)
c.*219_*220delinsT (n.*219_*220delinsT)
c.746_747delinsT (p.Gly249ValfsTer?)
c.353_354delinsT (p.Gly118ValfsTer?)
c.*403_*404delinsT (n.*403_*404delinsT)
c.893_894delinsT (p.Gly298ValfsTer?)
 ClinVar dbSNP
16g.29814358A>CCA395480541PRRT2c.905A>C (p.Asp302Ala)
c.365A>C (p.Asp122Ala)
c.*81A>C (n.*81A>C)
c.750A>C (p.Gly250=)
c.*220A>C (n.*220A>C)
c.747A>C (p.Gly249=)
c.354A>C (p.Gly118=)
c.*404A>C (n.*404A>C)
c.894A>C (p.Gly298=)
16g.29814358A>GCA395480542PRRT2c.905A>G (p.Asp302Gly)
c.365A>G (p.Asp122Gly)
c.*81A>G (n.*81A>G)
c.750A>G (p.Gly250=)
c.*220A>G (n.*220A>G)
c.747A>G (p.Gly249=)
c.354A>G (p.Gly118=)
c.*404A>G (n.*404A>G)
c.894A>G (p.Gly298=)
 gnomAD v4
16g.29814358A>TCA395480543PRRT2c.905A>T (p.Asp302Val)
c.365A>T (p.Asp122Val)
c.*81A>T (n.*81A>T)
c.750A>T (p.Gly250=)
c.*220A>T (n.*220A>T)
c.747A>T (p.Gly249=)
c.354A>T (p.Gly118=)
c.*404A>T (n.*404A>T)
c.894A>T (p.Gly298=)
 ClinVar
16g.29814359C>ACA395480544PRRT2c.906C>A (p.Asp302Glu)
c.366C>A (p.Asp122Glu)
c.*82C>A (n.*82C>A)
c.751C>A (p.Arg251Ser)
c.*221C>A (n.*221C>A)
c.748C>A (p.Arg250Ser)
c.355C>A (p.Arg119Ser)
c.*405C>A (n.*405C>A)
c.895C>A (p.Arg299Ser)
16g.29814359C=CA2216294503PRRT2c.906C= (p.Asp302=)
c.366C= (p.Asp122=)
c.*82C= (n.*82C=)
c.751C= (p.Arg251=)
c.*221C= (n.*221C=)
c.748C= (p.Arg250=)
c.355C= (p.Arg119=)
c.*405C= (n.*405C=)
c.895C= (p.Arg299=)
16g.29814359C>GCA395480546PRRT2c.906C>G (p.Asp302Glu)
c.366C>G (p.Asp122Glu)
c.*82C>G (n.*82C>G)
c.751C>G (p.Arg251Gly)
c.*221C>G (n.*221C>G)
c.748C>G (p.Arg250Gly)
c.355C>G (p.Arg119Gly)
c.*405C>G (n.*405C>G)
c.895C>G (p.Arg299Gly)
16g.29814359C>TCA7994622PRRT2c.906C>T (p.Asp302=)
c.366C>T (p.Asp122=)
c.*82C>T (n.*82C>T)
c.751C>T (p.Arg251Cys)
c.*221C>T (n.*221C>T)
c.748C>T (p.Arg250Cys)
c.355C>T (p.Arg119Cys)
c.*405C>T (n.*405C>T)
c.895C>T (p.Arg299Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814360_29814370delCA2741477846PRRT2c.907_917del (p.Val303ProfsTer?)
c.367_377del (p.Val123ProfsTer?)
c.*83_*93del (n.*83_*93del)
c.752_762del (p.Arg251ProfsTer7)
c.*222_*232del (n.*222_*232del)
c.749_759del (p.Arg250ProfsTer7)
c.356_366del (p.Arg119ProfsTer7)
c.*406_*416del (n.*406_*416del)
c.896_906del (p.Arg299ProfsTer7)
16g.29814360G>ACA7994623PRRT2c.907G>A (p.Val303Met)
c.367G>A (p.Val123Met)
c.*83G>A (n.*83G>A)
c.752G>A (p.Arg251His)
c.*222G>A (n.*222G>A)
c.749G>A (p.Arg250His)
c.356G>A (p.Arg119His)
c.*406G>A (n.*406G>A)
c.896G>A (p.Arg299His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.29814360G>CCA395480550PRRT2c.907G>C (p.Val303Leu)
c.367G>C (p.Val123Leu)
c.*83G>C (n.*83G>C)
c.752G>C (p.Arg251Pro)
c.*222G>C (n.*222G>C)
c.749G>C (p.Arg250Pro)
c.356G>C (p.Arg119Pro)
c.*406G>C (n.*406G>C)
c.896G>C (p.Arg299Pro)
 ClinVar gnomAD v4
16g.29814360G=CA2216294504PRRT2c.907G= (p.Val303=)
c.367G= (p.Val123=)
c.*83G= (n.*83G=)
c.752G= (p.Arg251=)
c.*222G= (n.*222G=)
c.749G= (p.Arg250=)
c.356G= (p.Arg119=)
c.*406G= (n.*406G=)
c.896G= (p.Arg299=)
16g.29814360G>TCA395480549PRRT2c.907G>T (p.Val303Leu)
c.367G>T (p.Val123Leu)
c.*83G>T (n.*83G>T)
c.752G>T (p.Arg251Leu)
c.*222G>T (n.*222G>T)
c.749G>T (p.Arg250Leu)
c.356G>T (p.Arg119Leu)
c.*406G>T (n.*406G>T)
c.896G>T (p.Arg299Leu)
 gnomAD v4
16g.29814361T>ACA395480552PRRT2c.908T>A (p.Val303Glu)
c.368T>A (p.Val123Glu)
c.*84T>A (n.*84T>A)
c.753T>A (p.Arg251=)
c.*223T>A (n.*223T>A)
c.750T>A (p.Arg250=)
c.357T>A (p.Arg119=)
c.*407T>A (n.*407T>A)
c.897T>A (p.Arg299=)
16g.29814361T>CCA395480554PRRT2c.908T>C (p.Val303Ala)
c.368T>C (p.Val123Ala)
c.*84T>C (n.*84T>C)
c.753T>C (p.Arg251=)
c.*223T>C (n.*223T>C)
c.750T>C (p.Arg250=)
c.357T>C (p.Arg119=)
c.*407T>C (n.*407T>C)
c.897T>C (p.Arg299=)
16g.29814361T>GCA395480555PRRT2c.908T>G (p.Val303Gly)
c.368T>G (p.Val123Gly)
c.*84T>G (n.*84T>G)
c.753T>G (p.Arg251=)
c.*223T>G (n.*223T>G)
c.750T>G (p.Arg250=)
c.357T>G (p.Arg119=)
c.*407T>G (n.*407T>G)
c.897T>G (p.Arg299=)
16g.29814362G>ACA494582698PRRT2c.909G>A (p.Val303=)
c.369G>A (p.Val123=)
c.*85G>A (n.*85G>A)
c.754G>A (p.Gly252Arg)
c.*224G>A (n.*224G>A)
c.751G>A (p.Gly251Arg)
c.358G>A (p.Gly120Arg)
c.*408G>A (n.*408G>A)
c.898G>A (p.Gly300Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.29814362G>CCA494582700PRRT2c.909G>C (p.Val303=)
c.369G>C (p.Val123=)
c.*85G>C (n.*85G>C)
c.754G>C (p.Gly252Arg)
c.*224G>C (n.*224G>C)
c.751G>C (p.Gly251Arg)
c.358G>C (p.Gly120Arg)
c.*408G>C (n.*408G>C)
c.898G>C (p.Gly300Arg)
16g.29814362G=CA2216294505PRRT2c.909G= (p.Val303=)
c.369G= (p.Val123=)
c.*85G= (n.*85G=)
c.754G= (p.Gly252=)
c.*224G= (n.*224G=)
c.751G= (p.Gly251=)
c.358G= (p.Gly120=)
c.*408G= (n.*408G=)
c.898G= (p.Gly300=)
16g.29814362G>TCA494582702PRRT2c.909G>T (p.Val303=)
c.369G>T (p.Val123=)
c.*85G>T (n.*85G>T)
c.754G>T (p.Gly252Ter)
c.*224G>T (n.*224G>T)
c.751G>T (p.Gly251Ter)
c.358G>T (p.Gly120Ter)
c.*408G>T (n.*408G>T)
c.898G>T (p.Gly300Ter)
 gnomAD v4 COSMIC COSMIC
16g.29814363G>ACA395480556PRRT2c.910G>A (p.Asp304Asn)
c.370G>A (p.Asp124Asn)
c.*86G>A (n.*86G>A)
c.755G>A (p.Gly252Glu)
c.*225G>A (n.*225G>A)
c.752G>A (p.Gly251Glu)
c.359G>A (p.Gly120Glu)
c.*409G>A (n.*409G>A)
c.899G>A (p.Gly300Glu)
 ClinVar dbSNP
16g.29814363G>CCA395480558PRRT2c.910G>C (p.Asp304His)
c.370G>C (p.Asp124His)
c.*86G>C (n.*86G>C)
c.755G>C (p.Gly252Ala)
c.*225G>C (n.*225G>C)
c.752G>C (p.Gly251Ala)
c.359G>C (p.Gly120Ala)
c.*409G>C (n.*409G>C)
c.899G>C (p.Gly300Ala)
 gnomAD v4
16g.29814363G=CA2216294506PRRT2c.910G= (p.Asp304=)
c.370G= (p.Asp124=)
c.*86G= (n.*86G=)
c.755G= (p.Gly252=)
c.*225G= (n.*225G=)
c.752G= (p.Gly251=)
c.359G= (p.Gly120=)
c.*409G= (n.*409G=)
c.899G= (p.Gly300=)
16g.29814363G>TCA395480560PRRT2c.910G>T (p.Asp304Tyr)
c.370G>T (p.Asp124Tyr)
c.*86G>T (n.*86G>T)
c.755G>T (p.Gly252Val)
c.*225G>T (n.*225G>T)
c.752G>T (p.Gly251Val)
c.359G>T (p.Gly120Val)
c.*409G>T (n.*409G>T)
c.899G>T (p.Gly300Val)
 gnomAD v4
16g.29814364A>CCA395480562PRRT2c.911A>C (p.Asp304Ala)
c.371A>C (p.Asp124Ala)
c.*87A>C (n.*87A>C)
c.756A>C (p.Gly252=)
c.*226A>C (n.*226A>C)
c.753A>C (p.Gly251=)
c.360A>C (p.Gly120=)
c.*410A>C (n.*410A>C)
c.900A>C (p.Gly300=)
16g.29814364A>GCA395480563PRRT2c.911A>G (p.Asp304Gly)
c.371A>G (p.Asp124Gly)
c.*87A>G (n.*87A>G)
c.756A>G (p.Gly252=)
c.*226A>G (n.*226A>G)
c.753A>G (p.Gly251=)
c.360A>G (p.Gly120=)
c.*410A>G (n.*410A>G)
c.900A>G (p.Gly300=)
16g.29814364A>TCA395480564PRRT2c.911A>T (p.Asp304Val)
c.371A>T (p.Asp124Val)
c.*87A>T (n.*87A>T)
c.756A>T (p.Gly252=)
c.*226A>T (n.*226A>T)
c.753A>T (p.Gly251=)
c.360A>T (p.Gly120=)
c.*410A>T (n.*410A>T)
c.900A>T (p.Gly300=)
16g.29814365C>ACA395480566PRRT2c.912C>A (p.Asp304Glu)
c.372C>A (p.Asp124Glu)
c.*88C>A (n.*88C>A)
c.757C>A (p.Arg253=)
c.*227C>A (n.*227C>A)
c.754C>A (p.Arg252=)
c.361C>A (p.Arg121=)
c.*411C>A (n.*411C>A)
c.901C>A (p.Arg301=)
16g.29814365C=CA2216294507PRRT2c.912C= (p.Asp304=)
c.372C= (p.Asp124=)
c.*88C= (n.*88C=)
c.757C= (p.Arg253=)
c.*227C= (n.*227C=)
c.754C= (p.Arg252=)
c.361C= (p.Arg121=)
c.*411C= (n.*411C=)
c.901C= (p.Arg301=)
16g.29814365C>GCA395480568PRRT2c.912C>G (p.Asp304Glu)
c.372C>G (p.Asp124Glu)
c.*88C>G (n.*88C>G)
c.757C>G (p.Arg253Gly)
c.*227C>G (n.*227C>G)
c.754C>G (p.Arg252Gly)
c.361C>G (p.Arg121Gly)
c.*411C>G (n.*411C>G)
c.901C>G (p.Arg301Gly)
16g.29814365C>TCA7994624PRRT2c.912C>T (p.Asp304=)
c.372C>T (p.Asp124=)
c.*88C>T (n.*88C>T)
c.757C>T (p.Arg253Trp)
c.*227C>T (n.*227C>T)
c.754C>T (p.Arg252Trp)
c.361C>T (p.Arg121Trp)
c.*411C>T (n.*411C>T)
c.901C>T (p.Arg301Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814365_29814368dupCA2632606389PRRT2c.912_915dup (p.Ala306ArgfsTer?)
c.372_375dup (p.Ala126ArgfsTer?)
c.*88_*91dup (n.*88_*91dup)
c.757_760dup (p.Gly254AlafsTer9)
c.*227_*230dup (n.*227_*230dup)
c.754_757dup (p.Gly253AlafsTer9)
c.361_364dup (p.Gly122AlafsTer9)
c.*411_*414dup (n.*411_*414dup)
c.901_904dup (p.Gly302AlafsTer9)
 gnomAD v4
16g.29814369_29814387delCA2499223483PRRT2c.916_934del (p.Ala306Ter)
c.376_394del (p.Ala126Ter)
c.*92_*110del (n.*92_*110del)
c.761_779del (p.Gly254ValfsTer30)
c.*231_*249del (n.*231_*249del)
c.758_776del (p.Gly253ValfsTer30)
c.365_383del (p.Gly122ValfsTer30)
c.*415_*433del (n.*415_*433del)
c.905_923del (p.Gly302ValfsTer?)
 ClinVar dbSNP
16g.29814366G>ACA7994625PRRT2c.913G>A (p.Gly305Arg)
c.373G>A (p.Gly125Arg)
c.*89G>A (n.*89G>A)
c.758G>A (p.Arg253Gln)
c.*228G>A (n.*228G>A)
c.755G>A (p.Arg252Gln)
c.362G>A (p.Arg121Gln)
c.*412G>A (n.*412G>A)
c.902G>A (p.Arg301Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814366G>CCA395480572PRRT2c.913G>C (p.Gly305Arg)
c.373G>C (p.Gly125Arg)
c.*89G>C (n.*89G>C)
c.758G>C (p.Arg253Pro)
c.*228G>C (n.*228G>C)
c.755G>C (p.Arg252Pro)
c.362G>C (p.Arg121Pro)
c.*412G>C (n.*412G>C)
c.902G>C (p.Arg301Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.29814366G=CA2216294508PRRT2c.913G= (p.Gly305=)
c.373G= (p.Gly125=)
c.*89G= (n.*89G=)
c.758G= (p.Arg253=)
c.*228G= (n.*228G=)
c.755G= (p.Arg252=)
c.362G= (p.Arg121=)
c.*412G= (n.*412G=)
c.902G= (p.Arg301=)
16g.29814366G>TCA395480571PRRT2c.913G>T (p.Gly305Trp)
c.373G>T (p.Gly125Trp)
c.*89G>T (n.*89G>T)
c.758G>T (p.Arg253Leu)
c.*228G>T (n.*228G>T)
c.755G>T (p.Arg252Leu)
c.362G>T (p.Arg121Leu)
c.*412G>T (n.*412G>T)
c.902G>T (p.Arg301Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.29814367G>ACA395480574PRRT2c.914G>A (p.Gly305Glu)
c.374G>A (p.Gly125Glu)
c.*90G>A (n.*90G>A)
c.759G>A (p.Arg253=)
c.*229G>A (n.*229G>A)
c.756G>A (p.Arg252=)
c.363G>A (p.Arg121=)
c.*413G>A (n.*413G>A)
c.903G>A (p.Arg301=)
 ClinVar dbSNP gnomAD v2
16g.29814367G>CCA395480575PRRT2c.914G>C (p.Gly305Ala)
c.374G>C (p.Gly125Ala)
c.*90G>C (n.*90G>C)
c.759G>C (p.Arg253=)
c.*229G>C (n.*229G>C)
c.756G>C (p.Arg252=)
c.363G>C (p.Arg121=)
c.*413G>C (n.*413G>C)
c.903G>C (p.Arg301=)
 ClinVar dbSNP
16g.29814367G=CA2216294509PRRT2c.914G= (p.Gly305=)
c.374G= (p.Gly125=)
c.*90G= (n.*90G=)
c.759G= (p.Arg253=)
c.*229G= (n.*229G=)
c.756G= (p.Arg252=)
c.363G= (p.Arg121=)
c.*413G= (n.*413G=)
c.903G= (p.Arg301=)
16g.29814367G>TCA395480576PRRT2c.914G>T (p.Gly305Val)
c.374G>T (p.Gly125Val)
c.*90G>T (n.*90G>T)
c.759G>T (p.Arg253=)
c.*229G>T (n.*229G>T)
c.756G>T (p.Arg252=)
c.363G>T (p.Arg121=)
c.*413G>T (n.*413G>T)
c.903G>T (p.Arg301=)
 gnomAD v4
16g.29814368G>ACA494582717PRRT2c.915G>A (p.Gly305=)
c.375G>A (p.Gly125=)
c.*91G>A (n.*91G>A)
c.760G>A (p.Gly254Ser)
c.*230G>A (n.*230G>A)
c.757G>A (p.Gly253Ser)
c.364G>A (p.Gly122Ser)
c.*414G>A (n.*414G>A)
c.904G>A (p.Gly302Ser)
16g.29814368G>CCA494582716PRRT2c.915G>C (p.Gly305=)
c.375G>C (p.Gly125=)
c.*91G>C (n.*91G>C)
c.760G>C (p.Gly254Arg)
c.*230G>C (n.*230G>C)
c.757G>C (p.Gly253Arg)
c.364G>C (p.Gly122Arg)
c.*414G>C (n.*414G>C)
c.904G>C (p.Gly302Arg)
16g.29814368G>TCA494582714PRRT2c.915G>T (p.Gly305=)
c.375G>T (p.Gly125=)
c.*91G>T (n.*91G>T)
c.760G>T (p.Gly254Cys)
c.*230G>T (n.*230G>T)
c.757G>T (p.Gly253Cys)
c.364G>T (p.Gly122Cys)
c.*414G>T (n.*414G>T)
c.904G>T (p.Gly302Cys)
 gnomAD v4
16g.29814369G>ACA234737PRRT2c.916G>A (p.Ala306Thr)
c.376G>A (p.Ala126Thr)
c.*92G>A (n.*92G>A)
c.761G>A (p.Gly254Asp)
c.*231G>A (n.*231G>A)
c.758G>A (p.Gly253Asp)
c.365G>A (p.Gly122Asp)
c.*415G>A (n.*415G>A)
c.905G>A (p.Gly302Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.29814369G>CCA395480578PRRT2c.916G>C (p.Ala306Pro)
c.376G>C (p.Ala126Pro)
c.*92G>C (n.*92G>C)
c.761G>C (p.Gly254Ala)
c.*231G>C (n.*231G>C)
c.758G>C (p.Gly253Ala)
c.365G>C (p.Gly122Ala)
c.*415G>C (n.*415G>C)
c.905G>C (p.Gly302Ala)
 ClinVar dbSNP
16g.29814369G=CA2216294510PRRT2c.916G= (p.Ala306=)
c.376G= (p.Ala126=)
c.*92G= (n.*92G=)
c.761G= (p.Gly254=)
c.*231G= (n.*231G=)
c.758G= (p.Gly253=)
c.365G= (p.Gly122=)
c.*415G= (n.*415G=)
c.905G= (p.Gly302=)
16g.29814369G>TCA395480579PRRT2c.916G>T (p.Ala306Ser)
c.376G>T (p.Ala126Ser)
c.*92G>T (n.*92G>T)
c.761G>T (p.Gly254Val)
c.*231G>T (n.*231G>T)
c.758G>T (p.Gly253Val)
c.365G>T (p.Gly122Val)
c.*415G>T (n.*415G>T)
c.905G>T (p.Gly302Val)
 ClinVar dbSNP gnomAD v4
16g.29814369_29814377delCA2739266715PRRT2c.916_924del (p.Ala306_Arg308del)
c.376_384del (p.Ala126_Arg128del)
c.*92_*100del (n.*92_*100del)
c.761_769del (p.Gly254_Ser257delinsAla)
c.*231_*239del (n.*231_*239del)
c.758_766del (p.Gly253_Ser256delinsAla)
c.365_373del (p.Gly122_Ser125delinsAla)
c.*415_*423del (n.*415_*423del)
c.905_913del (p.Gly302_Ser305delinsAla)
 ClinVar
16g.29814370C>ACA395480581PRRT2c.917C>A (p.Ala306Asp)
c.377C>A (p.Ala126Asp)
c.*93C>A (n.*93C>A)
c.762C>A (p.Gly254=)
c.*232C>A (n.*232C>A)
c.759C>A (p.Gly253=)
c.366C>A (p.Gly122=)
c.*416C>A (n.*416C>A)
c.906C>A (p.Gly302=)
 gnomAD v4
16g.29814370C=CA2216294511PRRT2c.917C= (p.Ala306=)
c.377C= (p.Ala126=)
c.*93C= (n.*93C=)
c.762C= (p.Gly254=)
c.*232C= (n.*232C=)
c.759C= (p.Gly253=)
c.366C= (p.Gly122=)
c.*416C= (n.*416C=)
c.906C= (p.Gly302=)
16g.29814370C>GCA395480582PRRT2c.917C>G (p.Ala306Gly)
c.377C>G (p.Ala126Gly)
c.*93C>G (n.*93C>G)
c.762C>G (p.Gly254=)
c.*232C>G (n.*232C>G)
c.759C>G (p.Gly253=)
c.366C>G (p.Gly122=)
c.*416C>G (n.*416C>G)
c.906C>G (p.Gly302=)
 dbSNP
16g.29814370C>TCA395480583PRRT2c.917C>T (p.Ala306Val)
c.377C>T (p.Ala126Val)
c.*93C>T (n.*93C>T)
c.762C>T (p.Gly254=)
c.*232C>T (n.*232C>T)
c.759C>T (p.Gly253=)
c.366C>T (p.Gly122=)
c.*416C>T (n.*416C>T)
c.906C>T (p.Gly302=)
 ClinVar dbSNP gnomAD v4
16g.29814371C>ACA494582724PRRT2c.918C>A (p.Ala306=)
c.378C>A (p.Ala126=)
c.*94C>A (n.*94C>A)
c.763C>A (p.Pro255Thr)
c.*233C>A (n.*233C>A)
c.760C>A (p.Pro254Thr)
c.367C>A (p.Pro123Thr)
c.*417C>A (n.*417C>A)
c.907C>A (p.Pro303Thr)
16g.29814371C=CA2216294512PRRT2c.918C= (p.Ala306=)
c.378C= (p.Ala126=)
c.*94C= (n.*94C=)
c.763C= (p.Pro255=)
c.*233C= (n.*233C=)
c.760C= (p.Pro254=)
c.367C= (p.Pro123=)
c.*417C= (n.*417C=)
c.907C= (p.Pro303=)
16g.29814371C>GCA494582725PRRT2c.918C>G (p.Ala306=)
c.378C>G (p.Ala126=)
c.*94C>G (n.*94C>G)
c.763C>G (p.Pro255Ala)
c.*233C>G (n.*233C>G)
c.760C>G (p.Pro254Ala)
c.367C>G (p.Pro123Ala)
c.*417C>G (n.*417C>G)
c.907C>G (p.Pro303Ala)
16g.29814371C>TCA494582726PRRT2c.918C>T (p.Ala306=)
c.378C>T (p.Ala126=)
c.*94C>T (n.*94C>T)
c.763C>T (p.Pro255Ser)
c.*233C>T (n.*233C>T)
c.760C>T (p.Pro254Ser)
c.367C>T (p.Pro123Ser)
c.*417C>T (n.*417C>T)
c.907C>T (p.Pro303Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.29814372C>ACA395480585PRRT2c.919C>A (p.Gln307Lys)
c.379C>A (p.Gln127Lys)
c.*95C>A (n.*95C>A)
c.764C>A (p.Pro255Gln)
c.*234C>A (n.*234C>A)
c.761C>A (p.Pro254Gln)
c.368C>A (p.Pro123Gln)
c.*418C>A (n.*418C>A)
c.908C>A (p.Pro303Gln)
 ClinVar
16g.29814372C>GCA395480587PRRT2c.919C>G (p.Gln307Glu)
c.379C>G (p.Gln127Glu)
c.*95C>G (n.*95C>G)
c.764C>G (p.Pro255Arg)
c.*234C>G (n.*234C>G)
c.761C>G (p.Pro254Arg)
c.368C>G (p.Pro123Arg)
c.*418C>G (n.*418C>G)
c.908C>G (p.Pro303Arg)
16g.29814372C>TCA395480589PRRT2c.919C>T (p.Gln307Ter)
c.379C>T (p.Gln127Ter)
c.*95C>T (n.*95C>T)
c.764C>T (p.Pro255Leu)
c.*234C>T (n.*234C>T)
c.761C>T (p.Pro254Leu)
c.368C>T (p.Pro123Leu)
c.*418C>T (n.*418C>T)
c.908C>T (p.Pro303Leu)
 gnomAD v4
16g.29814373A>CCA395480591PRRT2c.920A>C (p.Gln307Pro)
c.380A>C (p.Gln127Pro)
c.*96A>C (n.*96A>C)
c.765A>C (p.Pro255=)
c.*235A>C (n.*235A>C)
c.762A>C (p.Pro254=)
c.369A>C (p.Pro123=)
c.*419A>C (n.*419A>C)
c.909A>C (p.Pro303=)
16g.29814373A>GCA395480593PRRT2c.920A>G (p.Gln307Arg)
c.380A>G (p.Gln127Arg)
c.*96A>G (n.*96A>G)
c.765A>G (p.Pro255=)
c.*235A>G (n.*235A>G)
c.762A>G (p.Pro254=)
c.369A>G (p.Pro123=)
c.*419A>G (n.*419A>G)
c.909A>G (p.Pro303=)
16g.29814373A>TCA395480590PRRT2c.920A>T (p.Gln307Leu)
c.380A>T (p.Gln127Leu)
c.*96A>T (n.*96A>T)
c.765A>T (p.Pro255=)
c.*235A>T (n.*235A>T)
c.762A>T (p.Pro254=)
c.369A>T (p.Pro123=)
c.*419A>T (n.*419A>T)
c.909A>T (p.Pro303=)
16g.29814373_29814374delinsAGCA2216294513PRRT2c.920_921delinsAG (p.Gln307=)
c.380_381delinsAG (p.Gln127=)
c.*96_*97delinsAG (n.*96_*97delinsAG)
c.765_766delinsAG (p.Pro255=)
c.*235_*236delinsAG (n.*235_*236delinsAG)
c.762_763delinsAG (p.Pro254=)
c.369_370delinsAG (p.Pro123=)
c.*419_*420delinsAG (n.*419_*420delinsAG)
c.909_910delinsAG (p.Pro303=)
16g.29814374delCA1139664647PRRT2c.921del (p.Gln307HisfsTer6)
c.381del (p.Gln127HisfsTer6)
c.*97del (n.*97del)
c.766del (p.Ala256ArgfsTer?)
c.*236del (n.*236del)
c.763del (p.Ala255ArgfsTer?)
c.370del (p.Ala124ArgfsTer?)
c.*420del (n.*420del)
c.910del (p.Ala304ArgfsTer?)
 ClinVar dbSNP
16g.29814374G>ACA494582733PRRT2c.921G>A (p.Gln307=)
c.381G>A (p.Gln127=)
c.*97G>A (n.*97G>A)
c.766G>A (p.Ala256Thr)
c.*236G>A (n.*236G>A)
c.763G>A (p.Ala255Thr)
c.370G>A (p.Ala124Thr)
c.*420G>A (n.*420G>A)
c.910G>A (p.Ala304Thr)
16g.29814374G>CCA7994626PRRT2c.921G>C (p.Gln307His)
c.381G>C (p.Gln127His)
c.*97G>C (n.*97G>C)
c.766G>C (p.Ala256Pro)
c.*236G>C (n.*236G>C)
c.763G>C (p.Ala255Pro)
c.370G>C (p.Ala124Pro)
c.*420G>C (n.*420G>C)
c.910G>C (p.Ala304Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.29814374G=CA2216294514PRRT2c.921G= (p.Gln307=)
c.381G= (p.Gln127=)
c.*97G= (n.*97G=)
c.766G= (p.Ala256=)
c.*236G= (n.*236G=)
c.763G= (p.Ala255=)
c.370G= (p.Ala124=)
c.*420G= (n.*420G=)
c.910G= (p.Ala304=)
16g.29814374G>TCA395480595PRRT2c.921G>T (p.Gln307His)
c.381G>T (p.Gln127His)
c.*97G>T (n.*97G>T)
c.766G>T (p.Ala256Ser)
c.*236G>T (n.*236G>T)
c.763G>T (p.Ala255Ser)
c.370G>T (p.Ala124Ser)
c.*420G>T (n.*420G>T)
c.910G>T (p.Ala304Ser)
 gnomAD v4
16g.29814375_29814376delCA2697555754PRRT2c.922_923del (p.Arg308SerfsTer?)
c.382_383del (p.Arg128SerfsTer?)
c.*98_*99del (n.*98_*99del)
c.767_768del (p.Ala256ValfsTer5)
c.*237_*238del (n.*237_*238del)
c.764_765del (p.Ala255ValfsTer5)
c.371_372del (p.Ala124ValfsTer5)
c.*421_*422del (n.*421_*422del)
c.911_912del (p.Ala304ValfsTer5)
 ClinVar
16g.29814375C>ACA395480597PRRT2c.922C>A (p.Arg308Ser)
c.382C>A (p.Arg128Ser)
c.*98C>A (n.*98C>A)
c.767C>A (p.Ala256Glu)
c.*237C>A (n.*237C>A)
c.764C>A (p.Ala255Glu)
c.371C>A (p.Ala124Glu)
c.*421C>A (n.*421C>A)
c.911C>A (p.Ala304Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.29814375C=CA2216294515PRRT2c.922C= (p.Arg308=)
c.382C= (p.Arg128=)
c.*98C= (n.*98C=)
c.767C= (p.Ala256=)
c.*237C= (n.*237C=)
c.764C= (p.Ala255=)
c.371C= (p.Ala124=)
c.*421C= (n.*421C=)
c.911C= (p.Ala304=)
16g.29814375C>GCA395480599PRRT2c.922C>G (p.Arg308Gly)
c.382C>G (p.Arg128Gly)
c.*98C>G (n.*98C>G)
c.767C>G (p.Ala256Gly)
c.*237C>G (n.*237C>G)
c.764C>G (p.Ala255Gly)
c.371C>G (p.Ala124Gly)
c.*421C>G (n.*421C>G)
c.911C>G (p.Ala304Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.29814375C>TCA280410931PRRT2c.922C>T (p.Arg308Cys)
c.382C>T (p.Arg128Cys)
c.*98C>T (n.*98C>T)
c.767C>T (p.Ala256Val)
c.*237C>T (n.*237C>T)
c.764C>T (p.Ala255Val)
c.371C>T (p.Ala124Val)
c.*421C>T (n.*421C>T)
c.911C>T (p.Ala304Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.29814376G>ACA16614908PRRT2c.923G>A (p.Arg308His)
c.383G>A (p.Arg128His)
c.*99G>A (n.*99G>A)
c.768G>A (p.Ala256=)
c.*238G>A (n.*238G>A)
c.765G>A (p.Ala255=)
c.372G>A (p.Ala124=)
c.*422G>A (n.*422G>A)
c.912G>A (p.Ala304=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.29814376G>CCA395480601PRRT2c.923G>C (p.Arg308Pro)
c.383G>C (p.Arg128Pro)
c.*99G>C (n.*99G>C)
c.768G>C (p.Ala256=)
c.*238G>C (n.*238G>C)
c.765G>C (p.Ala255=)
c.372G>C (p.Ala124=)
c.*422G>C (n.*422G>C)
c.912G>C (p.Ala304=)
 ClinVar dbSNP
16g.29814376G=CA2216294516PRRT2c.923G= (p.Arg308=)
c.383G= (p.Arg128=)
c.*99G= (n.*99G=)
c.768G= (p.Ala256=)
c.*238G= (n.*238G=)
c.765G= (p.Ala255=)
c.372G= (p.Ala124=)
c.*422G= (n.*422G=)
c.912G= (p.Ala304=)
16g.29814376G>TCA395480602PRRT2c.923G>T (p.Arg308Leu)
c.383G>T (p.Arg128Leu)
c.*99G>T (n.*99G>T)
c.768G>T (p.Ala256=)
c.*238G>T (n.*238G>T)
c.765G>T (p.Ala255=)
c.372G>T (p.Ala124=)
c.*422G>T (n.*422G>T)
c.912G>T (p.Ala304=)
16g.29814377T>ACA494582740PRRT2c.924T>A (p.Arg308=)
c.384T>A (p.Arg128=)
c.*100T>A (n.*100T>A)
c.769T>A (p.Ser257Thr)
c.*239T>A (n.*239T>A)
c.766T>A (p.Ser256Thr)
c.373T>A (p.Ser125Thr)
c.*423T>A (n.*423T>A)
c.913T>A (p.Ser305Thr)
 ClinVar
16g.29814377T>CCA494582741PRRT2c.924T>C (p.Arg308=)
c.384T>C (p.Arg128=)
c.*100T>C (n.*100T>C)
c.769T>C (p.Ser257Pro)
c.*239T>C (n.*239T>C)
c.766T>C (p.Ser256Pro)
c.373T>C (p.Ser125Pro)
c.*423T>C (n.*423T>C)
c.913T>C (p.Ser305Pro)
16g.29814377T>GCA494582743PRRT2c.924T>G (p.Arg308=)
c.384T>G (p.Arg128=)
c.*100T>G (n.*100T>G)
c.769T>G (p.Ser257Ala)
c.*239T>G (n.*239T>G)
c.766T>G (p.Ser256Ala)
c.373T>G (p.Ser125Ala)
c.*423T>G (n.*423T>G)
c.913T>G (p.Ser305Ala)
16g.29814378C>ACA395480605PRRT2c.925C>A (p.Leu309Met)
c.385C>A (p.Leu129Met)
c.*101C>A (n.*101C>A)
c.770C>A (p.Ser257Tyr)
c.*240C>A (n.*240C>A)
c.767C>A (p.Ser256Tyr)
c.374C>A (p.Ser125Tyr)
c.*424C>A (n.*424C>A)
c.914C>A (p.Ser305Tyr)
16g.29814378C=CA2216294517PRRT2c.925C= (p.Leu309=)
c.385C= (p.Leu129=)
c.*101C= (n.*101C=)
c.770C= (p.Ser257=)
c.*240C= (n.*240C=)
c.767C= (p.Ser256=)
c.374C= (p.Ser125=)
c.*424C= (n.*424C=)
c.914C= (p.Ser305=)
16g.29814378C>GCA395480606PRRT2c.925C>G (p.Leu309Val)
c.385C>G (p.Leu129Val)
c.*101C>G (n.*101C>G)
c.770C>G (p.Ser257Cys)
c.*240C>G (n.*240C>G)
c.767C>G (p.Ser256Cys)
c.374C>G (p.Ser125Cys)
c.*424C>G (n.*424C>G)
c.914C>G (p.Ser305Cys)
16g.29814378C>TCA494582745PRRT2c.925C>T (p.Leu309=)
c.385C>T (p.Leu129=)
c.*101C>T (n.*101C>T)
c.770C>T (p.Ser257Phe)
c.*240C>T (n.*240C>T)
c.767C>T (p.Ser256Phe)
c.374C>T (p.Ser125Phe)
c.*424C>T (n.*424C>T)
c.914C>T (p.Ser305Phe)
 dbSNP gnomAD v2
16g.29814379T>ACA395480608PRRT2c.926T>A (p.Leu309Gln)
c.386T>A (p.Leu129Gln)
c.*102T>A (n.*102T>A)
c.771T>A (p.Ser257=)
c.*241T>A (n.*241T>A)
c.768T>A (p.Ser256=)
c.375T>A (p.Ser125=)
c.*425T>A (n.*425T>A)
c.915T>A (p.Ser305=)
16g.29814379T>CCA395480609PRRT2c.926T>C (p.Leu309Pro)
c.386T>C (p.Leu129Pro)
c.*102T>C (n.*102T>C)
c.771T>C (p.Ser257=)
c.*241T>C (n.*241T>C)
c.768T>C (p.Ser256=)
c.375T>C (p.Ser125=)
c.*425T>C (n.*425T>C)
c.915T>C (p.Ser305=)
 ClinVar dbSNP
16g.29814379T>GCA395480610PRRT2c.926T>G (p.Leu309Arg)
c.386T>G (p.Leu129Arg)
c.*102T>G (n.*102T>G)
c.771T>G (p.Ser257=)
c.*241T>G (n.*241T>G)
c.768T>G (p.Ser256=)
c.375T>G (p.Ser125=)
c.*425T>G (n.*425T>G)
c.915T>G (p.Ser305=)
16g.29814379T=CA2216294518PRRT2c.926T= (p.Leu309=)
c.386T= (p.Leu129=)
c.*102T= (n.*102T=)
c.771T= (p.Ser257=)
c.*241T= (n.*241T=)
c.768T= (p.Ser256=)
c.375T= (p.Ser125=)
c.*425T= (n.*425T=)
c.915T= (p.Ser305=)
16g.29814380G>ACA494582749PRRT2c.927G>A (p.Leu309=)
c.387G>A (p.Leu129=)
c.*103G>A (n.*103G>A)
c.772G>A (p.Gly258Arg)
c.*242G>A (n.*242G>A)
c.769G>A (p.Gly257Arg)
c.376G>A (p.Gly126Arg)
c.*426G>A (n.*426G>A)
c.916G>A (p.Gly306Arg)
16g.29814380G>CCA494582751PRRT2c.927G>C (p.Leu309=)
c.387G>C (p.Leu129=)
c.*103G>C (n.*103G>C)
c.772G>C (p.Gly258Arg)
c.*242G>C (n.*242G>C)
c.769G>C (p.Gly257Arg)
c.376G>C (p.Gly126Arg)
c.*426G>C (n.*426G>C)
c.916G>C (p.Gly306Arg)
16g.29814380G>TCA494582752PRRT2c.927G>T (p.Leu309=)
c.387G>T (p.Leu129=)
c.*103G>T (n.*103G>T)
c.772G>T (p.Gly258Trp)
c.*242G>T (n.*242G>T)
c.769G>T (p.Gly257Trp)
c.376G>T (p.Gly126Trp)
c.*426G>T (n.*426G>T)
c.916G>T (p.Gly306Trp)
16g.29814381G>ACA395480611PRRT2c.928G>A (p.Gly310Ser)
c.388G>A (p.Gly130Ser)
c.*104G>A (n.*104G>A)
c.773G>A (p.Gly258Glu)
c.*243G>A (n.*243G>A)
c.770G>A (p.Gly257Glu)
c.377G>A (p.Gly126Glu)
c.*427G>A (n.*427G>A)
c.917G>A (p.Gly306Glu)
 gnomAD v4
16g.29814381G>CCA395480614PRRT2c.928G>C (p.Gly310Arg)
c.388G>C (p.Gly130Arg)
c.*104G>C (n.*104G>C)
c.773G>C (p.Gly258Ala)
c.*243G>C (n.*243G>C)
c.770G>C (p.Gly257Ala)
c.377G>C (p.Gly126Ala)
c.*427G>C (n.*427G>C)
c.917G>C (p.Gly306Ala)
16g.29814381G>TCA395480613PRRT2c.928G>T (p.Gly310Cys)
c.388G>T (p.Gly130Cys)
c.*104G>T (n.*104G>T)
c.773G>T (p.Gly258Val)
c.*243G>T (n.*243G>T)
c.770G>T (p.Gly257Val)
c.377G>T (p.Gly126Val)
c.*427G>T (n.*427G>T)
c.917G>T (p.Gly306Val)
16g.29814382G>ACA395480616PRRT2c.929G>A (p.Gly310Asp)
c.389G>A (p.Gly130Asp)
c.*105G>A (n.*105G>A)
c.774G>A (p.Gly258=)
c.*244G>A (n.*244G>A)
c.771G>A (p.Gly257=)
c.378G>A (p.Gly126=)
c.*428G>A (n.*428G>A)
c.918G>A (p.Gly306=)
 gnomAD v4
16g.29814382G>CCA395480618PRRT2c.929G>C (p.Gly310Ala)
c.389G>C (p.Gly130Ala)
c.*105G>C (n.*105G>C)
c.774G>C (p.Gly258=)
c.*244G>C (n.*244G>C)
c.771G>C (p.Gly257=)
c.378G>C (p.Gly126=)
c.*428G>C (n.*428G>C)
c.918G>C (p.Gly306=)
16g.29814382G>TCA395480617PRRT2c.929G>T (p.Gly310Val)
c.389G>T (p.Gly130Val)
c.*105G>T (n.*105G>T)
c.774G>T (p.Gly258=)
c.*244G>T (n.*244G>T)
c.771G>T (p.Gly257=)
c.378G>T (p.Gly126=)
c.*428G>T (n.*428G>T)
c.918G>T (p.Gly306=)
 gnomAD v4
16g.29814383C>ACA494582759PRRT2c.930C>A (p.Gly310=)
c.390C>A (p.Gly130=)
c.*106C>A (n.*106C>A)
c.775C>A (p.Pro259Thr)
c.*245C>A (n.*245C>A)
c.772C>A (p.Pro258Thr)
c.379C>A (p.Pro127Thr)
c.*429C>A (n.*429C>A)
c.919C>A (p.Pro307Thr)
 gnomAD v4
16g.29814383C=CA2216294519PRRT2c.930C= (p.Gly310=)
c.390C= (p.Gly130=)
c.*106C= (n.*106C=)
c.775C= (p.Pro259=)
c.*245C= (n.*245C=)
c.772C= (p.Pro258=)
c.379C= (p.Pro127=)
c.*429C= (n.*429C=)
c.919C= (p.Pro307=)
16g.29814383C>GCA494582760PRRT2c.930C>G (p.Gly310=)
c.390C>G (p.Gly130=)
c.*106C>G (n.*106C>G)
c.775C>G (p.Pro259Ala)
c.*245C>G (n.*245C>G)
c.772C>G (p.Pro258Ala)
c.379C>G (p.Pro127Ala)
c.*429C>G (n.*429C>G)
c.919C>G (p.Pro307Ala)
16g.29814383C>TCA494582762PRRT2c.930C>T (p.Gly310=)
c.390C>T (p.Gly130=)
c.*106C>T (n.*106C>T)
c.775C>T (p.Pro259Ser)
c.*245C>T (n.*245C>T)
c.772C>T (p.Pro258Ser)
c.379C>T (p.Pro127Ser)
c.*429C>T (n.*429C>T)
c.919C>T (p.Pro307Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.29814384C>ACA494582764PRRT2c.931C>A (p.Arg311=)
c.391C>A (p.Arg131=)
c.*107C>A (n.*107C>A)
c.776C>A (p.Pro259Gln)
c.*246C>A (n.*246C>A)
c.773C>A (p.Pro258Gln)
c.380C>A (p.Pro127Gln)
c.*430C>A (n.*430C>A)
c.920C>A (p.Pro307Gln)
 dbSNP gnomAD v3 gnomAD v4
16g.29814384C=CA2216294520PRRT2c.931C= (p.Arg311=)
c.391C= (p.Arg131=)
c.*107C= (n.*107C=)
c.776C= (p.Pro259=)
c.*246C= (n.*246C=)
c.773C= (p.Pro258=)
c.380C= (p.Pro127=)
c.*430C= (n.*430C=)
c.920C= (p.Pro307=)
16g.29814384C>GCA395480619PRRT2c.931C>G (p.Arg311Gly)
c.391C>G (p.Arg131Gly)
c.*107C>G (n.*107C>G)
c.776C>G (p.Pro259Arg)
c.*246C>G (n.*246C>G)
c.773C>G (p.Pro258Arg)
c.380C>G (p.Pro127Arg)
c.*430C>G (n.*430C>G)
c.920C>G (p.Pro307Arg)
16g.29814384C>TCA317037PRRT2c.931C>T (p.Arg311Trp)
c.391C>T (p.Arg131Trp)
c.*107C>T (n.*107C>T)
c.776C>T (p.Pro259Leu)
c.*246C>T (n.*246C>T)
c.773C>T (p.Pro258Leu)
c.380C>T (p.Pro127Leu)
c.*430C>T (n.*430C>T)
c.920C>T (p.Pro307Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814385G>ACA280410950PRRT2c.932G>A (p.Arg311Gln)
c.392G>A (p.Arg131Gln)
c.*108G>A (n.*108G>A)
c.777G>A (p.Pro259=)
c.*247G>A (n.*247G>A)
c.774G>A (p.Pro258=)
c.381G>A (p.Pro127=)
c.*431G>A (n.*431G>A)
c.921G>A (p.Pro307=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.29814385G>CCA16615323PRRT2c.932G>C (p.Arg311Pro)
c.392G>C (p.Arg131Pro)
c.*108G>C (n.*108G>C)
c.777G>C (p.Pro259=)
c.*247G>C (n.*247G>C)
c.774G>C (p.Pro258=)
c.381G>C (p.Pro127=)
c.*431G>C (n.*431G>C)
c.921G>C (p.Pro307=)
 ClinVar dbSNP
16g.29814385G=CA2216294522PRRT2c.932G= (p.Arg311=)
c.392G= (p.Arg131=)
c.*108G= (n.*108G=)
c.777G= (p.Pro259=)
c.*247G= (n.*247G=)
c.774G= (p.Pro258=)
c.381G= (p.Pro127=)
c.*431G= (n.*431G=)
c.921G= (p.Pro307=)
16g.29814385G>TCA395480622PRRT2c.932G>T (p.Arg311Leu)
c.392G>T (p.Arg131Leu)
c.*108G>T (n.*108G>T)
c.777G>T (p.Pro259=)
c.*247G>T (n.*247G>T)
c.774G>T (p.Pro258=)
c.381G>T (p.Pro127=)
c.*431G>T (n.*431G>T)
c.921G>T (p.Pro307=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.29814387delCA2695223038PRRT2c.934del (p.Val312Ter)
c.394del (p.Val132Ter)
c.*110del (n.*110del)
c.779del (p.Gly260ValfsTer30)
c.*249del (n.*249del)
c.776del (p.Gly259ValfsTer30)
c.383del (p.Gly128ValfsTer30)
c.*433del (n.*433del)
c.923del (p.Gly308ValfsTer?)
16g.29814385_29814415delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCTCA2216294521PRRT2c.932_962delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (p.Arg311=)
c.392_422delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (p.Arg131=)
c.*108_*138delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (n.*108_*138delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT)
c.777_807delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (p.Pro259=)
c.*247_*277delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (n.*247_*277delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT)
c.774_804delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (p.Pro258=)
c.381_411delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (p.Pro127=)
c.*431_*461delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (n.*431_*461delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT)
c.921_951delinsGGGTAGCCAAGCTCTTAAGCATCGTGGCGCT (p.Pro307=)
16g.29814386G>ACA494582769PRRT2c.933G>A (p.Arg311=)
c.393G>A (p.Arg131=)
c.*109G>A (n.*109G>A)
c.778G>A (p.Gly260Ser)
c.*248G>A (n.*248G>A)
c.775G>A (p.Gly259Ser)
c.382G>A (p.Gly128Ser)
c.*432G>A (n.*432G>A)
c.922G>A (p.Gly308Ser)
 gnomAD v4
16g.29814386G>CCA494582771PRRT2c.933G>C (p.Arg311=)
c.393G>C (p.Arg131=)
c.*109G>C (n.*109G>C)
c.778G>C (p.Gly260Arg)
c.*248G>C (n.*248G>C)
c.775G>C (p.Gly259Arg)
c.382G>C (p.Gly128Arg)
c.*432G>C (n.*432G>C)
c.922G>C (p.Gly308Arg)
 ClinVar gnomAD v4
16g.29814386G>TCA494582772PRRT2c.933G>T (p.Arg311=)
c.393G>T (p.Arg131=)
c.*109G>T (n.*109G>T)
c.778G>T (p.Gly260Cys)
c.*248G>T (n.*248G>T)
c.775G>T (p.Gly259Cys)
c.382G>T (p.Gly128Cys)
c.*432G>T (n.*432G>T)
c.922G>T (p.Gly308Cys)
 gnomAD v4
16g.29814389_29814418delCA2216294523PRRT2c.936_965del (p.Ala313_Val322del)
c.396_425del (p.Ala133_Val142del)
c.*112_*141del (n.*112_*141del)
c.781_810del (p.Ser261_Gly270del)
c.*251_*280del (n.*251_*280del)
c.778_807del (p.Ser260_Gly269del)
c.385_414del (p.Ser129_Gly138del)
c.*435_*464del (n.*435_*464del)
c.925_954del (p.Ser309_Gly318del)
 ClinVar dbSNP
16g.29814387G>ACA395480624PRRT2c.934G>A (p.Val312Ile)
c.394G>A (p.Val132Ile)
c.*110G>A (n.*110G>A)
c.779G>A (p.Gly260Asp)
c.*249G>A (n.*249G>A)
c.776G>A (p.Gly259Asp)
c.383G>A (p.Gly128Asp)
c.*433G>A (n.*433G>A)
c.923G>A (p.Gly308Asp)
16g.29814387G>CCA395480626PRRT2c.934G>C (p.Val312Leu)
c.394G>C (p.Val132Leu)
c.*110G>C (n.*110G>C)
c.779G>C (p.Gly260Ala)
c.*249G>C (n.*249G>C)
c.776G>C (p.Gly259Ala)
c.383G>C (p.Gly128Ala)
c.*433G>C (n.*433G>C)
c.923G>C (p.Gly308Ala)
16g.29814387G>TCA395480627PRRT2c.934G>T (p.Val312Leu)
c.394G>T (p.Val132Leu)
c.*110G>T (n.*110G>T)
c.779G>T (p.Gly260Val)
c.*249G>T (n.*249G>T)
c.776G>T (p.Gly259Val)
c.383G>T (p.Gly128Val)
c.*433G>T (n.*433G>T)
c.923G>T (p.Gly308Val)
 gnomAD v4
16g.29814388T>ACA395480629PRRT2c.935T>A (p.Val312Glu)
c.395T>A (p.Val132Glu)
c.*111T>A (n.*111T>A)
c.780T>A (p.Gly260=)
c.*250T>A (n.*250T>A)
c.777T>A (p.Gly259=)
c.384T>A (p.Gly128=)
c.*434T>A (n.*434T>A)
c.924T>A (p.Gly308=)
16g.29814388T>CCA395480630PRRT2c.935T>C (p.Val312Ala)
c.395T>C (p.Val132Ala)
c.*111T>C (n.*111T>C)
c.780T>C (p.Gly260=)
c.*250T>C (n.*250T>C)
c.777T>C (p.Gly259=)
c.384T>C (p.Gly128=)
c.*434T>C (n.*434T>C)
c.924T>C (p.Gly308=)
16g.29814388T>GCA395480631PRRT2c.935T>G (p.Val312Gly)
c.395T>G (p.Val132Gly)
c.*111T>G (n.*111T>G)
c.780T>G (p.Gly260=)
c.*250T>G (n.*250T>G)
c.777T>G (p.Gly259=)
c.384T>G (p.Gly128=)
c.*434T>G (n.*434T>G)
c.924T>G (p.Gly308=)
 dbSNP
16g.29814388T=CA2216294524PRRT2c.935T= (p.Val312=)
c.395T= (p.Val132=)
c.*111T= (n.*111T=)
c.780T= (p.Gly260=)
c.*250T= (n.*250T=)
c.777T= (p.Gly259=)
c.384T= (p.Gly128=)
c.*434T= (n.*434T=)
c.924T= (p.Gly308=)
16g.29814389A=CA2216294525PRRT2c.936A= (p.Val312=)
c.396A= (p.Val132=)
c.*112A= (n.*112A=)
c.781A= (p.Ser261=)
c.*251A= (n.*251A=)
c.778A= (p.Ser260=)
c.385A= (p.Ser129=)
c.*435A= (n.*435A=)
c.925A= (p.Ser309=)
16g.29814389A>CCA494582778PRRT2c.936A>C (p.Val312=)
c.396A>C (p.Val132=)
c.*112A>C (n.*112A>C)
c.781A>C (p.Ser261Arg)
c.*251A>C (n.*251A>C)
c.778A>C (p.Ser260Arg)
c.385A>C (p.Ser129Arg)
c.*435A>C (n.*435A>C)
c.925A>C (p.Ser309Arg)
16g.29814389A>GCA494582780PRRT2c.936A>G (p.Val312=)
c.396A>G (p.Val132=)
c.*112A>G (n.*112A>G)
c.781A>G (p.Ser261Gly)
c.*251A>G (n.*251A>G)
c.778A>G (p.Ser260Gly)
c.385A>G (p.Ser129Gly)
c.*435A>G (n.*435A>G)
c.925A>G (p.Ser309Gly)
16g.29814389A>TCA16607396PRRT2c.936A>T (p.Val312=)
c.396A>T (p.Val132=)
c.*112A>T (n.*112A>T)
c.781A>T (p.Ser261Cys)
c.*251A>T (n.*251A>T)
c.778A>T (p.Ser260Cys)
c.385A>T (p.Ser129Cys)
c.*435A>T (n.*435A>T)
c.925A>T (p.Ser309Cys)
 ClinVar dbSNP gnomAD v4
16g.29814390G>ACA395480636PRRT2c.937G>A (p.Ala313Thr)
c.397G>A (p.Ala133Thr)
c.*113G>A (n.*113G>A)
c.782G>A (p.Ser261Asn)
c.*252G>A (n.*252G>A)
c.779G>A (p.Ser260Asn)
c.386G>A (p.Ser129Asn)
c.*436G>A (n.*436G>A)
c.926G>A (p.Ser309Asn)
16g.29814390G>CCA395480633PRRT2c.937G>C (p.Ala313Pro)
c.397G>C (p.Ala133Pro)
c.*113G>C (n.*113G>C)
c.782G>C (p.Ser261Thr)
c.*252G>C (n.*252G>C)
c.779G>C (p.Ser260Thr)
c.386G>C (p.Ser129Thr)
c.*436G>C (n.*436G>C)
c.926G>C (p.Ser309Thr)
16g.29814390G=CA2216294526PRRT2c.937G= (p.Ala313=)
c.397G= (p.Ala133=)
c.*113G= (n.*113G=)
c.782G= (p.Ser261=)
c.*252G= (n.*252G=)
c.779G= (p.Ser260=)
c.386G= (p.Ser129=)
c.*436G= (n.*436G=)
c.926G= (p.Ser309=)
16g.29814390G>TCA395480635PRRT2c.937G>T (p.Ala313Ser)
c.397G>T (p.Ala133Ser)
c.*113G>T (n.*113G>T)
c.782G>T (p.Ser261Ile)
c.*252G>T (n.*252G>T)
c.779G>T (p.Ser260Ile)
c.386G>T (p.Ser129Ile)
c.*436G>T (n.*436G>T)
c.926G>T (p.Ser309Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.29814390dupCA919687277PRRT2c.937dup (p.Ala313GlyfsTer28)
c.397dup (p.Ala133GlyfsTer?)
c.*113dup (n.*113dup)
c.782dup (p.Ser261ArgfsTer5)
c.*252dup (n.*252dup)
c.779dup (p.Ser260ArgfsTer5)
c.386dup (p.Ser129ArgfsTer5)
c.*436dup (n.*436dup)
c.937dup (p.Ala313GlyfsTer27)
c.926dup (p.Ser309ArgfsTer5)
c.937dup (p.Ala313GlyfsTer?)
 dbSNP
16g.29814391C>ACA395480637PRRT2c.938C>A (p.Ala313Asp)
c.398C>A (p.Ala133Asp)
c.*114C>A (n.*114C>A)
c.783C>A (p.Ser261Arg)
c.*253C>A (n.*253C>A)
c.780C>A (p.Ser260Arg)
c.387C>A (p.Ser129Arg)
c.*437C>A (n.*437C>A)
c.927C>A (p.Ser309Arg)
16g.29814391C=CA2216294527PRRT2c.938C= (p.Ala313=)
c.398C= (p.Ala133=)
c.*114C= (n.*114C=)
c.783C= (p.Ser261=)
c.*253C= (n.*253C=)
c.780C= (p.Ser260=)
c.387C= (p.Ser129=)
c.*437C= (n.*437C=)
c.927C= (p.Ser309=)
16g.29814391C>GCA395480638PRRT2c.938C>G (p.Ala313Gly)
c.398C>G (p.Ala133Gly)
c.*114C>G (n.*114C>G)
c.783C>G (p.Ser261Arg)
c.*253C>G (n.*253C>G)
c.780C>G (p.Ser260Arg)
c.387C>G (p.Ser129Arg)
c.*437C>G (n.*437C>G)
c.927C>G (p.Ser309Arg)
16g.29814391C>TCA395480640PRRT2c.938C>T (p.Ala313Val)
c.398C>T (p.Ala133Val)
c.*114C>T (n.*114C>T)
c.783C>T (p.Ser261=)
c.*253C>T (n.*253C>T)
c.780C>T (p.Ser260=)
c.387C>T (p.Ser129=)
c.*437C>T (n.*437C>T)
c.927C>T (p.Ser309=)
 dbSNP gnomAD v2 gnomAD v4
16g.29814392C>ACA494582786PRRT2c.939C>A (p.Ala313=)
c.399C>A (p.Ala133=)
c.*115C>A (n.*115C>A)
c.784C>A (p.Gln262Lys)
c.*254C>A (n.*254C>A)
c.781C>A (p.Gln261Lys)
c.388C>A (p.Gln130Lys)
c.*438C>A (n.*438C>A)
c.928C>A (p.Gln310Lys)
16g.29814392C>GCA494582787PRRT2c.939C>G (p.Ala313=)
c.399C>G (p.Ala133=)
c.*115C>G (n.*115C>G)
c.784C>G (p.Gln262Glu)
c.*254C>G (n.*254C>G)
c.781C>G (p.Gln261Glu)
c.388C>G (p.Gln130Glu)
c.*438C>G (n.*438C>G)
c.928C>G (p.Gln310Glu)
16g.29814392C>TCA494582789PRRT2c.939C>T (p.Ala313=)
c.399C>T (p.Ala133=)
c.*115C>T (n.*115C>T)
c.784C>T (p.Gln262Ter)
c.*254C>T (n.*254C>T)
c.781C>T (p.Gln261Ter)
c.388C>T (p.Gln130Ter)
c.*438C>T (n.*438C>T)
c.928C>T (p.Gln310Ter)
16g.29814393A=CA2216294528PRRT2c.940A= (p.Lys314=)
c.400A= (p.Lys134=)
c.*116A= (n.*116A=)
c.785A= (p.Gln262=)
c.*255A= (n.*255A=)
c.782A= (p.Gln261=)
c.389A= (p.Gln130=)
c.*439A= (n.*439A=)
c.929A= (p.Gln310=)
16g.29814393A>CCA395480642PRRT2c.940A>C (p.Lys314Gln)
c.400A>C (p.Lys134Gln)
c.*116A>C (n.*116A>C)
c.785A>C (p.Gln262Pro)
c.*255A>C (n.*255A>C)
c.782A>C (p.Gln261Pro)
c.389A>C (p.Gln130Pro)
c.*439A>C (n.*439A>C)
c.929A>C (p.Gln310Pro)
16g.29814393A>GCA395480643PRRT2c.940A>G (p.Lys314Glu)
c.400A>G (p.Lys134Glu)
c.*116A>G (n.*116A>G)
c.785A>G (p.Gln262Arg)
c.*255A>G (n.*255A>G)
c.782A>G (p.Gln261Arg)
c.389A>G (p.Gln130Arg)
c.*439A>G (n.*439A>G)
c.929A>G (p.Gln310Arg)
 dbSNP
16g.29814393A>TCA317039PRRT2c.940A>T (p.Lys314Ter)
c.400A>T (p.Lys134Ter)
c.*116A>T (n.*116A>T)
c.785A>T (p.Gln262Leu)
c.*255A>T (n.*255A>T)
c.782A>T (p.Gln261Leu)
c.389A>T (p.Gln130Leu)
c.*439A>T (n.*439A>T)
c.929A>T (p.Gln310Leu)
 dbSNP
16g.29814394A>CCA395480645PRRT2c.941A>C (p.Lys314Thr)
c.401A>C (p.Lys134Thr)
c.*117A>C (n.*117A>C)
c.786A>C (p.Gln262His)
c.*256A>C (n.*256A>C)
c.783A>C (p.Gln261His)
c.390A>C (p.Gln130His)
c.*440A>C (n.*440A>C)
c.930A>C (p.Gln310His)
16g.29814394A>GCA395480646PRRT2c.941A>G (p.Lys314Arg)
c.401A>G (p.Lys134Arg)
c.*117A>G (n.*117A>G)
c.786A>G (p.Gln262=)
c.*256A>G (n.*256A>G)
c.783A>G (p.Gln261=)
c.390A>G (p.Gln130=)
c.*440A>G (n.*440A>G)
c.930A>G (p.Gln310=)
16g.29814394A>TCA395480648PRRT2c.941A>T (p.Lys314Met)
c.401A>T (p.Lys134Met)
c.*117A>T (n.*117A>T)
c.786A>T (p.Gln262His)
c.*256A>T (n.*256A>T)
c.783A>T (p.Gln261His)
c.390A>T (p.Gln130His)
c.*440A>T (n.*440A>T)
c.930A>T (p.Gln310His)
16g.29814395G>ACA494582795PRRT2c.942G>A (p.Lys314=)
c.402G>A (p.Lys134=)
c.*118G>A (n.*118G>A)
c.787G>A (p.Ala263Thr)
c.*257G>A (n.*257G>A)
c.784G>A (p.Ala262Thr)
c.391G>A (p.Ala131Thr)
c.*441G>A (n.*441G>A)
c.931G>A (p.Ala311Thr)
16g.29814395G>CCA395480650PRRT2c.942G>C (p.Lys314Asn)
c.402G>C (p.Lys134Asn)
c.*118G>C (n.*118G>C)
c.787G>C (p.Ala263Pro)
c.*257G>C (n.*257G>C)
c.784G>C (p.Ala262Pro)
c.391G>C (p.Ala131Pro)
c.*441G>C (n.*441G>C)
c.931G>C (p.Ala311Pro)
16g.29814395G>TCA395480651PRRT2c.942G>T (p.Lys314Asn)
c.402G>T (p.Lys134Asn)
c.*118G>T (n.*118G>T)
c.787G>T (p.Ala263Ser)
c.*257G>T (n.*257G>T)
c.784G>T (p.Ala262Ser)
c.391G>T (p.Ala131Ser)
c.*441G>T (n.*441G>T)
c.931G>T (p.Ala311Ser)
 gnomAD v4
16g.29814396C>ACA395480654PRRT2c.943C>A (p.Leu315Ile)
c.403C>A (p.Leu135Ile)
c.*119C>A (n.*119C>A)
c.788C>A (p.Ala263Asp)
c.*258C>A (n.*258C>A)
c.785C>A (p.Ala262Asp)
c.392C>A (p.Ala131Asp)
c.*442C>A (n.*442C>A)
c.932C>A (p.Ala311Asp)
 gnomAD v4
16g.29814396C=CA2216294529PRRT2c.943C= (p.Leu315=)
c.403C= (p.Leu135=)
c.*119C= (n.*119C=)
c.788C= (p.Ala263=)
c.*258C= (n.*258C=)
c.785C= (p.Ala262=)
c.392C= (p.Ala131=)
c.*442C= (n.*442C=)
c.932C= (p.Ala311=)
16g.29814396C>GCA395480655PRRT2c.943C>G (p.Leu315Val)
c.403C>G (p.Leu135Val)
c.*119C>G (n.*119C>G)
c.788C>G (p.Ala263Gly)
c.*258C>G (n.*258C>G)
c.785C>G (p.Ala262Gly)
c.392C>G (p.Ala131Gly)
c.*442C>G (n.*442C>G)
c.932C>G (p.Ala311Gly)
16g.29814396C>TCA395480653PRRT2c.943C>T (p.Leu315Phe)
c.403C>T (p.Leu135Phe)
c.*119C>T (n.*119C>T)
c.788C>T (p.Ala263Val)
c.*258C>T (n.*258C>T)
c.785C>T (p.Ala262Val)
c.392C>T (p.Ala131Val)
c.*442C>T (n.*442C>T)
c.932C>T (p.Ala311Val)
 ClinVar dbSNP
16g.29814397T>ACA395480658PRRT2c.944T>A (p.Leu315His)
c.404T>A (p.Leu135His)
c.*120T>A (n.*120T>A)
c.789T>A (p.Ala263=)
c.*259T>A (n.*259T>A)
c.786T>A (p.Ala262=)
c.393T>A (p.Ala131=)
c.*443T>A (n.*443T>A)
c.933T>A (p.Ala311=)
16g.29814397T>CCA395480659PRRT2c.944T>C (p.Leu315Pro)
c.404T>C (p.Leu135Pro)
c.*120T>C (n.*120T>C)
c.789T>C (p.Ala263=)
c.*259T>C (n.*259T>C)
c.786T>C (p.Ala262=)
c.393T>C (p.Ala131=)
c.*443T>C (n.*443T>C)
c.933T>C (p.Ala311=)
 ClinVar
16g.29814397T>GCA395480660PRRT2c.944T>G (p.Leu315Arg)
c.404T>G (p.Leu135Arg)
c.*120T>G (n.*120T>G)
c.789T>G (p.Ala263=)
c.*259T>G (n.*259T>G)
c.786T>G (p.Ala262=)
c.393T>G (p.Ala131=)
c.*443T>G (n.*443T>G)
c.933T>G (p.Ala311=)
16g.29814398C>ACA494582802PRRT2c.945C>A (p.Leu315=)
c.405C>A (p.Leu135=)
c.*121C>A (n.*121C>A)
c.790C>A (p.Leu264Ile)
c.*260C>A (n.*260C>A)
c.787C>A (p.Leu263Ile)
c.394C>A (p.Leu132Ile)
c.*444C>A (n.*444C>A)
c.934C>A (p.Leu312Ile)
16g.29814398C>GCA494582804PRRT2c.945C>G (p.Leu315=)
c.405C>G (p.Leu135=)
c.*121C>G (n.*121C>G)
c.790C>G (p.Leu264Val)
c.*260C>G (n.*260C>G)
c.787C>G (p.Leu263Val)
c.394C>G (p.Leu132Val)
c.*444C>G (n.*444C>G)
c.934C>G (p.Leu312Val)
 ClinVar dbSNP
16g.29814398C>TCA494582805PRRT2c.945C>T (p.Leu315=)
c.405C>T (p.Leu135=)
c.*121C>T (n.*121C>T)
c.790C>T (p.Leu264Phe)
c.*260C>T (n.*260C>T)
c.787C>T (p.Leu263Phe)
c.394C>T (p.Leu132Phe)
c.*444C>T (n.*444C>T)
c.934C>T (p.Leu312Phe)
 gnomAD v4
16g.29814399T>ACA395480662PRRT2c.946T>A (p.Leu316Ile)
c.406T>A (p.Leu136Ile)
c.*122T>A (n.*122T>A)
c.791T>A (p.Leu264His)
c.*261T>A (n.*261T>A)
c.788T>A (p.Leu263His)
c.395T>A (p.Leu132His)
c.*445T>A (n.*445T>A)
c.935T>A (p.Leu312His)
16g.29814399T>CCA494582807PRRT2c.946T>C (p.Leu316=)
c.406T>C (p.Leu136=)
c.*122T>C (n.*122T>C)
c.791T>C (p.Leu264Pro)
c.*261T>C (n.*261T>C)
c.788T>C (p.Leu263Pro)
c.395T>C (p.Leu132Pro)
c.*445T>C (n.*445T>C)
c.935T>C (p.Leu312Pro)
16g.29814399T>GCA395480665PRRT2c.946T>G (p.Leu316Val)
c.406T>G (p.Leu136Val)
c.*122T>G (n.*122T>G)
c.791T>G (p.Leu264Arg)
c.*261T>G (n.*261T>G)
c.788T>G (p.Leu263Arg)
c.395T>G (p.Leu132Arg)
c.*445T>G (n.*445T>G)
c.935T>G (p.Leu312Arg)
16g.29814400T>ACA395480667PRRT2c.947T>A (p.Leu316Ter)
c.407T>A (p.Leu136Ter)
c.*123T>A (n.*123T>A)
c.792T>A (p.Leu264=)
c.*262T>A (n.*262T>A)
c.789T>A (p.Leu263=)
c.396T>A (p.Leu132=)
c.*446T>A (n.*446T>A)
c.936T>A (p.Leu312=)
16g.29814400T>CCA395480669PRRT2c.947T>C (p.Leu316Ser)
c.407T>C (p.Leu136Ser)
c.*123T>C (n.*123T>C)
c.792T>C (p.Leu264=)
c.*262T>C (n.*262T>C)
c.789T>C (p.Leu263=)
c.396T>C (p.Leu132=)
c.*446T>C (n.*446T>C)
c.936T>C (p.Leu312=)
16g.29814400T>GCA395480670PRRT2c.947T>G (p.Leu316Ter)
c.407T>G (p.Leu136Ter)
c.*123T>G (n.*123T>G)
c.792T>G (p.Leu264=)
c.*262T>G (n.*262T>G)
c.789T>G (p.Leu263=)
c.396T>G (p.Leu132=)
c.*446T>G (n.*446T>G)
c.936T>G (p.Leu312=)
16g.29814401A>CCA395480671PRRT2c.948A>C (p.Leu316Phe)
c.408A>C (p.Leu136Phe)
c.*124A>C (n.*124A>C)
c.793A>C (p.Lys265Gln)
c.*263A>C (n.*263A>C)
c.790A>C (p.Lys264Gln)
c.397A>C (p.Lys133Gln)
c.*447A>C (n.*447A>C)
c.937A>C (p.Lys313Gln)
16g.29814401A>GCA494582811PRRT2c.948A>G (p.Leu316=)
c.408A>G (p.Leu136=)
c.*124A>G (n.*124A>G)
c.793A>G (p.Lys265Glu)
c.*263A>G (n.*263A>G)
c.790A>G (p.Lys264Glu)
c.397A>G (p.Lys133Glu)
c.*447A>G (n.*447A>G)
c.937A>G (p.Lys313Glu)
16g.29814401A>TCA395480672PRRT2c.948A>T (p.Leu316Phe)
c.408A>T (p.Leu136Phe)
c.*124A>T (n.*124A>T)
c.793A>T (p.Lys265Ter)
c.*263A>T (n.*263A>T)
c.790A>T (p.Lys264Ter)
c.397A>T (p.Lys133Ter)
c.*447A>T (n.*447A>T)
c.937A>T (p.Lys313Ter)
16g.29814402A>CCA395480673PRRT2c.949A>C (p.Ser317Arg)
c.409A>C (p.Ser137Arg)
c.*125A>C (n.*125A>C)
c.794A>C (p.Lys265Thr)
c.*264A>C (n.*264A>C)
c.791A>C (p.Lys264Thr)
c.398A>C (p.Lys133Thr)
c.*448A>C (n.*448A>C)
c.938A>C (p.Lys313Thr)
 gnomAD v4
16g.29814402A>GCA395480674PRRT2c.949A>G (p.Ser317Gly)
c.409A>G (p.Ser137Gly)
c.*125A>G (n.*125A>G)
c.794A>G (p.Lys265Arg)
c.*264A>G (n.*264A>G)
c.791A>G (p.Lys264Arg)
c.398A>G (p.Lys133Arg)
c.*448A>G (n.*448A>G)
c.938A>G (p.Lys313Arg)
16g.29814402A>TCA395480676PRRT2c.949A>T (p.Ser317Cys)
c.409A>T (p.Ser137Cys)
c.*125A>T (n.*125A>T)
c.794A>T (p.Lys265Met)
c.*264A>T (n.*264A>T)
c.791A>T (p.Lys264Met)
c.398A>T (p.Lys133Met)
c.*448A>T (n.*448A>T)
c.938A>T (p.Lys313Met)
16g.29814403G>ACA129726PRRT2c.950G>A (p.Ser317Asn)
c.410G>A (p.Ser137Asn)
c.*126G>A (n.*126G>A)
c.795G>A (p.Lys265=)
c.*265G>A (n.*265G>A)
c.792G>A (p.Lys264=)
c.399G>A (p.Lys133=)
c.*449G>A (n.*449G>A)
c.939G>A (p.Lys313=)
 ClinVar dbSNP
16g.29814403G>CCA395480680PRRT2c.950G>C (p.Ser317Thr)
c.410G>C (p.Ser137Thr)
c.*126G>C (n.*126G>C)
c.795G>C (p.Lys265Asn)
c.*265G>C (n.*265G>C)
c.792G>C (p.Lys264Asn)
c.399G>C (p.Lys133Asn)
c.*449G>C (n.*449G>C)
c.939G>C (p.Lys313Asn)
16g.29814403G=CA2216294530PRRT2c.950G= (p.Ser317=)
c.410G= (p.Ser137=)
c.*126G= (n.*126G=)
c.795G= (p.Lys265=)
c.*265G= (n.*265G=)
c.792G= (p.Lys264=)
c.399G= (p.Lys133=)
c.*449G= (n.*449G=)
c.939G= (p.Lys313=)
16g.29814403G>TCA395480678PRRT2c.950G>T (p.Ser317Ile)
c.410G>T (p.Ser137Ile)
c.*126G>T (n.*126G>T)
c.795G>T (p.Lys265Asn)
c.*265G>T (n.*265G>T)
c.792G>T (p.Lys264Asn)
c.399G>T (p.Lys133Asn)
c.*449G>T (n.*449G>T)
c.939G>T (p.Lys313Asn)
16g.29814404C>ACA395480682PRRT2c.951C>A (p.Ser317Arg)
c.411C>A (p.Ser137Arg)
c.*127C>A (n.*127C>A)
c.796C>A (p.His266Asn)
c.*266C>A (n.*266C>A)
c.793C>A (p.His265Asn)
c.400C>A (p.His134Asn)
c.*450C>A (n.*450C>A)
c.940C>A (p.His314Asn)
16g.29814404C>GCA395480684PRRT2c.951C>G (p.Ser317Arg)
c.411C>G (p.Ser137Arg)
c.*127C>G (n.*127C>G)
c.796C>G (p.His266Asp)
c.*266C>G (n.*266C>G)
c.793C>G (p.His265Asp)
c.400C>G (p.His134Asp)
c.*450C>G (n.*450C>G)
c.940C>G (p.His314Asp)
 ClinVar
16g.29814404C>TCA494582819PRRT2c.951C>T (p.Ser317=)
c.411C>T (p.Ser137=)
c.*127C>T (n.*127C>T)
c.796C>T (p.His266Tyr)
c.*266C>T (n.*266C>T)
c.793C>T (p.His265Tyr)
c.400C>T (p.His134Tyr)
c.*450C>T (n.*450C>T)
c.940C>T (p.His314Tyr)
16g.29814405A=CA2216294531PRRT2c.952A= (p.Ile318=)
c.412A= (p.Ile138=)
c.*128A= (n.*128A=)
c.797A= (p.His266=)
c.*267A= (n.*267A=)
c.794A= (p.His265=)
c.401A= (p.His134=)
c.*451A= (n.*451A=)
c.941A= (p.His314=)
16g.29814405A>CCA395480686PRRT2c.952A>C (p.Ile318Leu)
c.412A>C (p.Ile138Leu)
c.*128A>C (n.*128A>C)
c.797A>C (p.His266Pro)
c.*267A>C (n.*267A>C)
c.794A>C (p.His265Pro)
c.401A>C (p.His134Pro)
c.*451A>C (n.*451A>C)
c.941A>C (p.His314Pro)
 dbSNP gnomAD v4
16g.29814405A>GCA395480687PRRT2c.952A>G (p.Ile318Val)
c.412A>G (p.Ile138Val)
c.*128A>G (n.*128A>G)
c.797A>G (p.His266Arg)
c.*267A>G (n.*267A>G)
c.794A>G (p.His265Arg)
c.401A>G (p.His134Arg)
c.*451A>G (n.*451A>G)
c.941A>G (p.His314Arg)
 gnomAD v4
16g.29814405A>TCA395480688PRRT2c.952A>T (p.Ile318Phe)
c.412A>T (p.Ile138Phe)
c.*128A>T (n.*128A>T)
c.797A>T (p.His266Leu)
c.*267A>T (n.*267A>T)
c.794A>T (p.His265Leu)
c.401A>T (p.His134Leu)
c.*451A>T (n.*451A>T)
c.941A>T (p.His314Leu)
16g.29814405_29814406dupCA2695223039PRRT2c.952_953dup (p.Val319SerfsTer19)
c.412_413dup (p.Val139SerfsTer?)
c.*128_*129dup (n.*128_*129dup)
c.797_798dup (p.Arg267IlefsTer24)
c.*267_*268dup (n.*267_*268dup)
c.794_795dup (p.Arg266IlefsTer24)
c.401_402dup (p.Arg135IlefsTer24)
c.*451_*452dup (n.*451_*452dup)
c.941_942dup (p.Arg315IlefsTer25)
16g.29814406T>ACA395480689PRRT2c.953T>A (p.Ile318Asn)
c.413T>A (p.Ile138Asn)
c.*129T>A (n.*129T>A)
c.798T>A (p.His266Gln)
c.*268T>A (n.*268T>A)
c.795T>A (p.His265Gln)
c.402T>A (p.His134Gln)
c.*452T>A (n.*452T>A)
c.942T>A (p.His314Gln)
 dbSNP gnomAD v2
16g.29814406T>CCA395480690PRRT2c.953T>C (p.Ile318Thr)
c.413T>C (p.Ile138Thr)
c.*129T>C (n.*129T>C)
c.798T>C (p.His266=)
c.*268T>C (n.*268T>C)
c.795T>C (p.His265=)
c.402T>C (p.His134=)
c.*452T>C (n.*452T>C)
c.942T>C (p.His314=)
16g.29814406T>GCA395480692PRRT2c.953T>G (p.Ile318Ser)
c.413T>G (p.Ile138Ser)
c.*129T>G (n.*129T>G)
c.798T>G (p.His266Gln)
c.*268T>G (n.*268T>G)
c.795T>G (p.His265Gln)
c.402T>G (p.His134Gln)
c.*452T>G (n.*452T>G)
c.942T>G (p.His314Gln)
16g.29814406T=CA2216294532PRRT2c.953T= (p.Ile318=)
c.413T= (p.Ile138=)
c.*129T= (n.*129T=)
c.798T= (p.His266=)
c.*268T= (n.*268T=)
c.795T= (p.His265=)
c.402T= (p.His134=)
c.*452T= (n.*452T=)
c.942T= (p.His314=)
16g.29814407C>ACA494582825PRRT2c.954C>A (p.Ile318=)
c.414C>A (p.Ile138=)
c.*130C>A (n.*130C>A)
c.799C>A (p.Arg267Ser)
c.*269C>A (n.*269C>A)
c.796C>A (p.Arg266Ser)
c.403C>A (p.Arg135Ser)
c.*453C>A (n.*453C>A)
c.943C>A (p.Arg315Ser)
16g.29814407C=CA2216294533PRRT2c.954C= (p.Ile318=)
c.414C= (p.Ile138=)
c.*130C= (n.*130C=)
c.799C= (p.Arg267=)
c.*269C= (n.*269C=)
c.796C= (p.Arg266=)
c.403C= (p.Arg135=)
c.*453C= (n.*453C=)
c.943C= (p.Arg315=)
16g.29814407C>GCA395480694PRRT2c.954C>G (p.Ile318Met)
c.414C>G (p.Ile138Met)
c.*130C>G (n.*130C>G)
c.799C>G (p.Arg267Gly)
c.*269C>G (n.*269C>G)
c.796C>G (p.Arg266Gly)
c.403C>G (p.Arg135Gly)
c.*453C>G (n.*453C>G)
c.943C>G (p.Arg315Gly)
16g.29814407C>TCA7994627PRRT2c.954C>T (p.Ile318=)
c.414C>T (p.Ile138=)
c.*130C>T (n.*130C>T)
c.799C>T (p.Arg267Cys)
c.*269C>T (n.*269C>T)
c.796C>T (p.Arg266Cys)
c.403C>T (p.Arg135Cys)
c.*453C>T (n.*453C>T)
c.943C>T (p.Arg315Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814408G>ACA280410955PRRT2c.955G>A (p.Val319Met)
c.415G>A (p.Val139Met)
c.*131G>A (n.*131G>A)
c.800G>A (p.Arg267His)
c.*270G>A (n.*270G>A)
c.797G>A (p.Arg266His)
c.404G>A (p.Arg135His)
c.*454G>A (n.*454G>A)
c.944G>A (p.Arg315His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.29814408G>CCA395480696PRRT2c.955G>C (p.Val319Leu)
c.415G>C (p.Val139Leu)
c.*131G>C (n.*131G>C)
c.800G>C (p.Arg267Pro)
c.*270G>C (n.*270G>C)
c.797G>C (p.Arg266Pro)
c.404G>C (p.Arg135Pro)
c.*454G>C (n.*454G>C)
c.944G>C (p.Arg315Pro)
 dbSNP gnomAD v2
16g.29814408G=CA2216294534PRRT2c.955G= (p.Val319=)
c.415G= (p.Val139=)
c.*131G= (n.*131G=)
c.800G= (p.Arg267=)
c.*270G= (n.*270G=)
c.797G= (p.Arg266=)
c.404G= (p.Arg135=)
c.*454G= (n.*454G=)
c.944G= (p.Arg315=)
16g.29814408G>TCA395480697PRRT2c.955G>T (p.Val319Leu)
c.415G>T (p.Val139Leu)
c.*131G>T (n.*131G>T)
c.800G>T (p.Arg267Leu)
c.*270G>T (n.*270G>T)
c.797G>T (p.Arg266Leu)
c.404G>T (p.Arg135Leu)
c.*454G>T (n.*454G>T)
c.944G>T (p.Arg315Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.29814409T>ACA395480701PRRT2c.956T>A (p.Val319Glu)
c.416T>A (p.Val139Glu)
c.*132T>A (n.*132T>A)
c.801T>A (p.Arg267=)
c.*271T>A (n.*271T>A)
c.798T>A (p.Arg266=)
c.405T>A (p.Arg135=)
c.*455T>A (n.*455T>A)
c.945T>A (p.Arg315=)
 gnomAD v4
16g.29814409T>CCA395480703PRRT2c.956T>C (p.Val319Ala)
c.416T>C (p.Val139Ala)
c.*132T>C (n.*132T>C)
c.801T>C (p.Arg267=)
c.*271T>C (n.*271T>C)
c.798T>C (p.Arg266=)
c.405T>C (p.Arg135=)
c.*455T>C (n.*455T>C)
c.945T>C (p.Arg315=)
 gnomAD v4
16g.29814409T>GCA395480699PRRT2c.956T>G (p.Val319Gly)
c.416T>G (p.Val139Gly)
c.*132T>G (n.*132T>G)
c.801T>G (p.Arg267=)
c.*271T>G (n.*271T>G)
c.798T>G (p.Arg266=)
c.405T>G (p.Arg135=)
c.*455T>G (n.*455T>G)
c.945T>G (p.Arg315=)
16g.29814410G>ACA494582836PRRT2c.957G>A (p.Val319=)
c.417G>A (p.Val139=)
c.*133G>A (n.*133G>A)
c.802G>A (p.Gly268Ser)
c.*272G>A (n.*272G>A)
c.799G>A (p.Gly267Ser)
c.406G>A (p.Gly136Ser)
c.*456G>A (n.*456G>A)
c.946G>A (p.Gly316Ser)
 ClinVar dbSNP gnomAD v4
16g.29814410G>CCA494582834PRRT2c.957G>C (p.Val319=)
c.417G>C (p.Val139=)
c.*133G>C (n.*133G>C)
c.802G>C (p.Gly268Arg)
c.*272G>C (n.*272G>C)
c.799G>C (p.Gly267Arg)
c.406G>C (p.Gly136Arg)
c.*456G>C (n.*456G>C)
c.946G>C (p.Gly316Arg)
16g.29814410G>TCA494582832PRRT2c.957G>T (p.Val319=)
c.417G>T (p.Val139=)
c.*133G>T (n.*133G>T)
c.802G>T (p.Gly268Cys)
c.*272G>T (n.*272G>T)
c.799G>T (p.Gly267Cys)
c.406G>T (p.Gly136Cys)
c.*456G>T (n.*456G>T)
c.946G>T (p.Gly316Cys)
16g.29814411G>ACA395480704PRRT2c.958G>A (p.Ala320Thr)
c.418G>A (p.Ala140Thr)
c.*134G>A (n.*134G>A)
c.803G>A (p.Gly268Asp)
c.*273G>A (n.*273G>A)
c.800G>A (p.Gly267Asp)
c.407G>A (p.Gly136Asp)
c.*457G>A (n.*457G>A)
c.947G>A (p.Gly316Asp)
16g.29814411G>CCA395480707PRRT2c.958G>C (p.Ala320Pro)
c.418G>C (p.Ala140Pro)
c.*134G>C (n.*134G>C)
c.803G>C (p.Gly268Ala)
c.*273G>C (n.*273G>C)
c.800G>C (p.Gly267Ala)
c.407G>C (p.Gly136Ala)
c.*457G>C (n.*457G>C)
c.947G>C (p.Gly316Ala)
16g.29814411G=CA2216294535PRRT2c.958G= (p.Ala320=)
c.418G= (p.Ala140=)
c.*134G= (n.*134G=)
c.803G= (p.Gly268=)
c.*273G= (n.*273G=)
c.800G= (p.Gly267=)
c.407G= (p.Gly136=)
c.*457G= (n.*457G=)
c.947G= (p.Gly316=)
16g.29814411G>TCA395480705PRRT2c.958G>T (p.Ala320Ser)
c.418G>T (p.Ala140Ser)
c.*134G>T (n.*134G>T)
c.803G>T (p.Gly268Val)
c.*273G>T (n.*273G>T)
c.800G>T (p.Gly267Val)
c.407G>T (p.Gly136Val)
c.*457G>T (n.*457G>T)
c.947G>T (p.Gly316Val)
 dbSNP gnomAD v4
16g.29814412C>ACA395480709PRRT2c.959C>A (p.Ala320Glu)
c.419C>A (p.Ala140Glu)
c.*135C>A (n.*135C>A)
c.804C>A (p.Gly268=)
c.*274C>A (n.*274C>A)
c.801C>A (p.Gly267=)
c.408C>A (p.Gly136=)
c.*458C>A (n.*458C>A)
c.948C>A (p.Gly316=)
 gnomAD v4
16g.29814412C=CA2216294536PRRT2c.959C= (p.Ala320=)
c.419C= (p.Ala140=)
c.*135C= (n.*135C=)
c.804C= (p.Gly268=)
c.*274C= (n.*274C=)
c.801C= (p.Gly267=)
c.408C= (p.Gly136=)
c.*458C= (n.*458C=)
c.948C= (p.Gly316=)
16g.29814412C>GCA395480711PRRT2c.959C>G (p.Ala320Gly)
c.419C>G (p.Ala140Gly)
c.*135C>G (n.*135C>G)
c.804C>G (p.Gly268=)
c.*274C>G (n.*274C>G)
c.801C>G (p.Gly267=)
c.408C>G (p.Gly136=)
c.*458C>G (n.*458C>G)
c.948C>G (p.Gly316=)
16g.29814412C>TCA395480710PRRT2c.959C>T (p.Ala320Val)
c.419C>T (p.Ala140Val)
c.*135C>T (n.*135C>T)
c.804C>T (p.Gly268=)
c.*274C>T (n.*274C>T)
c.801C>T (p.Gly267=)
c.408C>T (p.Gly136=)
c.*458C>T (n.*458C>T)
c.948C>T (p.Gly316=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.29814413G>ACA7994628PRRT2c.960G>A (p.Ala320=)
c.420G>A (p.Ala140=)
c.*136G>A (n.*136G>A)
c.805G>A (p.Ala269Thr)
c.*275G>A (n.*275G>A)
c.802G>A (p.Ala268Thr)
c.409G>A (p.Ala137Thr)
c.*459G>A (n.*459G>A)
c.949G>A (p.Ala317Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814413G>CCA494582842PRRT2c.960G>C (p.Ala320=)
c.420G>C (p.Ala140=)
c.*136G>C (n.*136G>C)
c.805G>C (p.Ala269Pro)
c.*275G>C (n.*275G>C)
c.802G>C (p.Ala268Pro)
c.409G>C (p.Ala137Pro)
c.*459G>C (n.*459G>C)
c.949G>C (p.Ala317Pro)
16g.29814413G=CA2216294537PRRT2c.960G= (p.Ala320=)
c.420G= (p.Ala140=)
c.*136G= (n.*136G=)
c.805G= (p.Ala269=)
c.*275G= (n.*275G=)
c.802G= (p.Ala268=)
c.409G= (p.Ala137=)
c.*459G= (n.*459G=)
c.949G= (p.Ala317=)
16g.29814413G>TCA494582844PRRT2c.960G>T (p.Ala320=)
c.420G>T (p.Ala140=)
c.*136G>T (n.*136G>T)
c.805G>T (p.Ala269Ser)
c.*275G>T (n.*275G>T)
c.802G>T (p.Ala268Ser)
c.409G>T (p.Ala137Ser)
c.*459G>T (n.*459G>T)
c.949G>T (p.Ala317Ser)
16g.29814414C>ACA395480714PRRT2c.961C>A (p.Leu321Met)
c.421C>A (p.Leu141Met)
c.*137C>A (n.*137C>A)
c.806C>A (p.Ala269Asp)
c.*276C>A (n.*276C>A)
c.803C>A (p.Ala268Asp)
c.410C>A (p.Ala137Asp)
c.*460C>A (n.*460C>A)
c.950C>A (p.Ala317Asp)
 gnomAD v4
16g.29814414C=CA2216294538PRRT2c.961C= (p.Leu321=)
c.421C= (p.Leu141=)
c.*137C= (n.*137C=)
c.806C= (p.Ala269=)
c.*276C= (n.*276C=)
c.803C= (p.Ala268=)
c.410C= (p.Ala137=)
c.*460C= (n.*460C=)
c.950C= (p.Ala317=)
16g.29814414C>GCA395480716PRRT2c.961C>G (p.Leu321Val)
c.421C>G (p.Leu141Val)
c.*137C>G (n.*137C>G)
c.806C>G (p.Ala269Gly)
c.*276C>G (n.*276C>G)
c.803C>G (p.Ala268Gly)
c.410C>G (p.Ala137Gly)
c.*460C>G (n.*460C>G)
c.950C>G (p.Ala317Gly)
 ClinVar
16g.29814414C>TCA7994629PRRT2c.961C>T (p.Leu321=)
c.421C>T (p.Leu141=)
c.*137C>T (n.*137C>T)
c.806C>T (p.Ala269Val)
c.*276C>T (n.*276C>T)
c.803C>T (p.Ala268Val)
c.410C>T (p.Ala137Val)
c.*460C>T (n.*460C>T)
c.950C>T (p.Ala317Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814415T>ACA395480717PRRT2c.962T>A (p.Leu321Gln)
c.422T>A (p.Leu141Gln)
c.*138T>A (n.*138T>A)
c.807T>A (p.Ala269=)
c.*277T>A (n.*277T>A)
c.804T>A (p.Ala268=)
c.411T>A (p.Ala137=)
c.*461T>A (n.*461T>A)
c.951T>A (p.Ala317=)
16g.29814415T>CCA395480719PRRT2c.962T>C (p.Leu321Pro)
c.422T>C (p.Leu141Pro)
c.*138T>C (n.*138T>C)
c.807T>C (p.Ala269=)
c.*277T>C (n.*277T>C)
c.804T>C (p.Ala268=)
c.411T>C (p.Ala137=)
c.*461T>C (n.*461T>C)
c.951T>C (p.Ala317=)
16g.29814415T>GCA395480720PRRT2c.962T>G (p.Leu321Arg)
c.422T>G (p.Leu141Arg)
c.*138T>G (n.*138T>G)
c.807T>G (p.Ala269=)
c.*277T>G (n.*277T>G)
c.804T>G (p.Ala268=)
c.411T>G (p.Ala137=)
c.*461T>G (n.*461T>G)
c.951T>G (p.Ala317=)
16g.29814416G>ACA494582850PRRT2c.963G>A (p.Leu321=)
c.423G>A (p.Leu141=)
c.*139G>A (n.*139G>A)
c.808G>A (p.Gly270Ser)
c.*278G>A (n.*278G>A)
c.805G>A (p.Gly269Ser)
c.412G>A (p.Gly138Ser)
c.*462G>A (n.*462G>A)
c.952G>A (p.Gly318Ser)
 ClinVar
16g.29814416G>CCA494582852PRRT2c.963G>C (p.Leu321=)
c.423G>C (p.Leu141=)
c.*139G>C (n.*139G>C)
c.808G>C (p.Gly270Arg)
c.*278G>C (n.*278G>C)
c.805G>C (p.Gly269Arg)
c.412G>C (p.Gly138Arg)
c.*462G>C (n.*462G>C)
c.952G>C (p.Gly318Arg)
 dbSNP
16g.29814416G=CA2216294539PRRT2c.963G= (p.Leu321=)
c.423G= (p.Leu141=)
c.*139G= (n.*139G=)
c.808G= (p.Gly270=)
c.*278G= (n.*278G=)
c.805G= (p.Gly269=)
c.412G= (p.Gly138=)
c.*462G= (n.*462G=)
c.952G= (p.Gly318=)
16g.29814416G>TCA494582854PRRT2c.963G>T (p.Leu321=)
c.423G>T (p.Leu141=)
c.*139G>T (n.*139G>T)
c.808G>T (p.Gly270Cys)
c.*278G>T (n.*278G>T)
c.805G>T (p.Gly269Cys)
c.412G>T (p.Gly138Cys)
c.*462G>T (n.*462G>T)
c.952G>T (p.Gly318Cys)
16g.29814417delCA2695223040PRRT2c.964del (p.Val322TrpfsTer15)
c.424del (p.Val142TrpfsTer?)
c.*140del (n.*140del)
c.809del (p.Gly270ValfsTer20)
c.*279del (n.*279del)
c.806del (p.Gly269ValfsTer20)
c.413del (p.Gly138ValfsTer20)
c.*463del (n.*463del)
c.953del (p.Gly318ValfsTer21)
16g.29814416_29814431delinsTACA2499223484PRRT2c.963_978delinsTA (p.Val322AsnfsTer14)
c.*139_*154delinsTA (n.*139_*154delinsTA)
c.808_823delinsTA (p.Gly270Ter)
c.*278_*293delinsTA (n.*278_*293delinsTA)
c.805_820delinsTA (p.Gly269Ter)
c.412_427delinsTA (p.Gly138Ter)
c.*462_*477delinsTA (n.*462_*477delinsTA)
c.963_978delinsTA (p.Val322AsnfsTer13)
c.952_967delinsTA (p.Gly318Ter)
c.963_978delinsTA (p.Val322AsnfsTer?)
c.963_978delinsTA (p.Val322AsnfsTer21)
 ClinVar dbSNP
16g.29814417G>ACA395480722PRRT2c.964G>A (p.Val322Met)
c.424G>A (p.Val142Met)
c.*140G>A (n.*140G>A)
c.809G>A (p.Gly270Asp)
c.*279G>A (n.*279G>A)
c.806G>A (p.Gly269Asp)
c.413G>A (p.Gly138Asp)
c.*463G>A (n.*463G>A)
c.953G>A (p.Gly318Asp)
16g.29814417G>CCA395480724PRRT2c.964G>C (p.Val322Leu)
c.424G>C (p.Val142Leu)
c.*140G>C (n.*140G>C)
c.809G>C (p.Gly270Ala)
c.*279G>C (n.*279G>C)
c.806G>C (p.Gly269Ala)
c.413G>C (p.Gly138Ala)
c.*463G>C (n.*463G>C)
c.953G>C (p.Gly318Ala)
16g.29814417G=CA2216294540PRRT2c.964G= (p.Val322=)
c.424G= (p.Val142=)
c.*140G= (n.*140G=)
c.809G= (p.Gly270=)
c.*279G= (n.*279G=)
c.806G= (p.Gly269=)
c.413G= (p.Gly138=)
c.*463G= (n.*463G=)
c.953G= (p.Gly318=)
16g.29814417G>TCA7994630PRRT2c.964G>T (p.Val322Leu)
c.424G>T (p.Val142Leu)
c.*140G>T (n.*140G>T)
c.809G>T (p.Gly270Val)
c.*279G>T (n.*279G>T)
c.806G>T (p.Gly269Val)
c.413G>T (p.Gly138Val)
c.*463G>T (n.*463G>T)
c.953G>T (p.Gly318Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814418T>ACA395480725PRRT2c.965T>A (p.Val322Glu)
c.425T>A (p.Val142Glu)
c.*141T>A (n.*141T>A)
c.810T>A (p.Gly270=)
c.*280T>A (n.*280T>A)
c.807T>A (p.Gly269=)
c.414T>A (p.Gly138=)
c.*464T>A (n.*464T>A)
c.954T>A (p.Gly318=)
16g.29814418T>CCA395480726PRRT2c.965T>C (p.Val322Ala)
c.425T>C (p.Val142Ala)
c.*141T>C (n.*141T>C)
c.810T>C (p.Gly270=)
c.*280T>C (n.*280T>C)
c.807T>C (p.Gly269=)
c.414T>C (p.Gly138=)
c.*464T>C (n.*464T>C)
c.954T>C (p.Gly318=)
16g.29814418T>GCA395480727PRRT2c.965T>G (p.Val322Gly)
c.425T>G (p.Val142Gly)
c.*141T>G (n.*141T>G)
c.810T>G (p.Gly270=)
c.*280T>G (n.*280T>G)
c.807T>G (p.Gly269=)
c.414T>G (p.Gly138=)
c.*464T>G (n.*464T>G)
c.954T>G (p.Gly318=)
16g.29814418_29814419delinsTGCA2216294541PRRT2c.965_966delinsTG (p.Val322=)
c.425_426delinsTG (p.Val142=)
c.*141_*142delinsTG (n.*141_*142delinsTG)
c.810_811delinsTG (p.Gly270=)
c.*280_*281delinsTG (n.*280_*281delinsTG)
c.807_808delinsTG (p.Gly269=)
c.414_415delinsTG (p.Gly138=)
c.*464_*465delinsTG (n.*464_*465delinsTG)
c.954_955delinsTG (p.Gly318=)
16g.29814419G>ACA280410975PRRT2c.966G>A (p.Val322=)
c.426G>A (p.Val142=)
c.*142G>A (n.*142G>A)
c.811G>A (p.Gly271Arg)
c.*281G>A (n.*281G>A)
c.808G>A (p.Gly270Arg)
c.415G>A (p.Gly139Arg)
c.*465G>A (n.*465G>A)
c.955G>A (p.Gly319Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.29814419G>CCA7994631PRRT2c.966G>C (p.Val322=)
c.426G>C (p.Val142=)
c.*142G>C (n.*142G>C)
c.811G>C (p.Gly271Arg)
c.*281G>C (n.*281G>C)
c.808G>C (p.Gly270Arg)
c.415G>C (p.Gly139Arg)
c.*465G>C (n.*465G>C)
c.955G>C (p.Gly319Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.29814419G=CA2216294542PRRT2c.966G= (p.Val322=)
c.426G= (p.Val142=)
c.*142G= (n.*142G=)
c.811G= (p.Gly271=)
c.*281G= (n.*281G=)
c.808G= (p.Gly270=)
c.415G= (p.Gly139=)
c.*465G= (n.*465G=)
c.955G= (p.Gly319=)
16g.29814419G>TCA280410981PRRT2c.966G>T (p.Val322=)
c.426G>T (p.Val142=)
c.*142G>T (n.*142G>T)
c.811G>T (p.Gly271Trp)
c.*281G>T (n.*281G>T)
c.808G>T (p.Gly270Trp)
c.415G>T (p.Gly139Trp)
c.*465G>T (n.*465G>T)
c.955G>T (p.Gly319Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.29814424dupCA622164917PRRT2c.971dup (p.Val325SerfsTer16)
c.431dup (p.Val145SerfsTer?)
c.*147dup (n.*147dup)
c.816dup (p.Ser273GlufsTer13)
c.*286dup (n.*286dup)
c.813dup (p.Ser272GlufsTer13)
c.420dup (p.Ser141GlufsTer13)
c.*470dup (n.*470dup)
c.971dup (p.Val325SerfsTer15)
c.960dup (p.Ser321GlufsTer13)
c.971dup (p.Val325SerfsTer?)
c.971dup (p.Val325SerfsTer23)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.29814424delCA317045PRRT2c.971del (p.Gly324GlufsTer13)
c.431del (p.Gly144GlufsTer?)
c.*147del (n.*147del)
c.816del (p.Ser273ValfsTer17)
c.*286del (n.*286del)
c.813del (p.Ser272ValfsTer17)
c.420del (p.Ser141ValfsTer17)
c.*470del (n.*470del)
c.960del (p.Ser321ValfsTer18)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.29814420G>ACA395480730PRRT2c.967G>A (p.Gly323Arg)
c.427G>A (p.Gly143Arg)
c.*143G>A (n.*143G>A)
c.812G>A (p.Gly271Glu)
c.*282G>A (n.*282G>A)
c.809G>A (p.Gly270Glu)
c.416G>A (p.Gly139Glu)
c.*466G>A (n.*466G>A)
c.956G>A (p.Gly319Glu)
16g.29814420G>CCA395480731PRRT2c.967G>C (p.Gly323Arg)
c.427G>C (p.Gly143Arg)
c.*143G>C (n.*143G>C)
c.812G>C (p.Gly271Ala)
c.*282G>C (n.*282G>C)
c.809G>C (p.Gly270Ala)
c.416G>C (p.Gly139Ala)
c.*466G>C (n.*466G>C)
c.956G>C (p.Gly319Ala)
16g.29814420G=CA2216294543PRRT2c.967G= (p.Gly323=)
c.427G= (p.Gly143=)
c.*143G= (n.*143G=)
c.812G= (p.Gly271=)
c.*282G= (n.*282G=)
c.809G= (p.Gly270=)
c.416G= (p.Gly139=)
c.*466G= (n.*466G=)
c.956G= (p.Gly319=)
16g.29814420G>TCA7994632PRRT2c.967G>T (p.Gly323Trp)
c.427G>T (p.Gly143Trp)
c.*143G>T (n.*143G>T)
c.812G>T (p.Gly271Val)
c.*282G>T (n.*282G>T)
c.809G>T (p.Gly270Val)
c.416G>T (p.Gly139Val)
c.*466G>T (n.*466G>T)
c.956G>T (p.Gly319Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.29814421G>ACA395480733PRRT2c.968G>A (p.Gly323Glu)
c.428G>A (p.Gly143Glu)
c.*144G>A (n.*144G>A)
c.813G>A (p.Gly271=)
c.*283G>A (n.*283G>A)
c.810G>A (p.Gly270=)
c.417G>A (p.Gly139=)
c.*467G>A (n.*467G>A)
c.957G>A (p.Gly319=)
16g.29814421G>CCA395480734PRRT2c.968G>C (p.Gly323Ala)
c.428G>C (p.Gly143Ala)
c.*144G>C (n.*144G>C)
c.813G>C (p.Gly271=)
c.*283G>C (n.*283G>C)
c.810G>C (p.Gly270=)
c.417G>C (p.Gly139=)
c.*467G>C (n.*467G>C)
c.957G>C (p.Gly319=)
 gnomAD v4
16g.29814421G>TCA395480736PRRT2c.968G>T (p.Gly323Val)
c.428G>T (p.Gly143Val)
c.*144G>T (n.*144G>T)
c.813G>T (p.Gly271=)
c.*283G>T (n.*283G>T)
c.810G>T (p.Gly270=)
c.417G>T (p.Gly139=)
c.*467G>T (n.*467G>T)
c.957G>T (p.Gly319=)
16g.29814422G>ACA494582867PRRT2c.969G>A (p.Gly323=)
c.429G>A (p.Gly143=)
c.*145G>A (n.*145G>A)
c.814G>A (p.Gly272Arg)
c.*284G>A (n.*284G>A)
c.811G>A (p.Gly271Arg)
c.418G>A (p.Gly140Arg)
c.*468G>A (n.*468G>A)
c.958G>A (p.Gly320Arg)
16g.29814422G>CCA494582869PRRT2c.969G>C (p.Gly323=)
c.429G>C (p.Gly143=)
c.*145G>C (n.*145G>C)
c.814G>C (p.Gly272Arg)
c.*284G>C (n.*284G>C)
c.811G>C (p.Gly271Arg)
c.418G>C (p.Gly140Arg)
c.*468G>C (n.*468G>C)
c.958G>C (p.Gly320Arg)
16g.29814422G>TCA494582871PRRT2c.969G>T (p.Gly323=)
c.429G>T (p.Gly143=)
c.*145G>T (n.*145G>T)
c.814G>T (p.Gly272Trp)
c.*284G>T (n.*284G>T)
c.811G>T (p.Gly271Trp)
c.418G>T (p.Gly140Trp)
c.*468G>T (n.*468G>T)
c.958G>T (p.Gly320Trp)
16g.29814423G>ACA280411004PRRT2c.970G>A (p.Gly324Arg)
c.430G>A (p.Gly144Arg)
c.*146G>A (n.*146G>A)
c.815G>A (p.Gly272Glu)
c.*285G>A (n.*285G>A)
c.812G>A (p.Gly271Glu)
c.419G>A (p.Gly140Glu)
c.*469G>A (n.*469G>A)
c.959G>A (p.Gly320Glu)
 ClinVar dbSNP
16g.29814423G>CCA395480738PRRT2c.970G>C (p.Gly324Arg)
c.430G>C (p.Gly144Arg)
c.*146G>C (n.*146G>C)
c.815G>C (p.Gly272Ala)
c.*285G>C (n.*285G>C)
c.812G>C (p.Gly271Ala)
c.419G>C (p.Gly140Ala)
c.*469G>C (n.*469G>C)
c.959G>C (p.Gly320Ala)
16g.29814423G=CA2216294544PRRT2c.970G= (p.Gly324=)
c.430G= (p.Gly144=)
c.*146G= (n.*146G=)
c.815G= (p.Gly272=)
c.*285G= (n.*285G=)
c.812G= (p.Gly271=)
c.419G= (p.Gly140=)
c.*469G= (n.*469G=)
c.959G= (p.Gly320=)
16g.29814423G>TCA395480739PRRT2c.970G>T (p.Gly324Ter)
c.430G>T (p.Gly144Ter)
c.*146G>T (n.*146G>T)
c.815G>T (p.Gly272Val)
c.*285G>T (n.*285G>T)
c.812G>T (p.Gly271Val)
c.419G>T (p.Gly140Val)
c.*469G>T (n.*469G>T)
c.959G>T (p.Gly320Val)
 ClinVar dbSNP
16g.29814424G>ACA395480741PRRT2c.971G>A (p.Gly324Glu)
c.431G>A (p.Gly144Glu)
c.*147G>A (n.*147G>A)
c.816G>A (p.Gly272=)
c.*286G>A (n.*286G>A)
c.813G>A (p.Gly271=)
c.420G>A (p.Gly140=)
c.*470G>A (n.*470G>A)
c.960G>A (p.Gly320=)
 ClinVar dbSNP
16g.29814424G>CCA317041PRRT2c.971G>C (p.Gly324Ala)
c.431G>C (p.Gly144Ala)
c.*147G>C (n.*147G>C)
c.816G>C (p.Gly272=)
c.*286G>C (n.*286G>C)
c.813G>C (p.Gly271=)
c.420G>C (p.Gly140=)
c.*470G>C (n.*470G>C)
c.960G>C (p.Gly320=)
 ClinVar dbSNP
16g.29814424G=CA2216294546PRRT2c.971G= (p.Gly324=)
c.431G= (p.Gly144=)
c.*147G= (n.*147G=)
c.816G= (p.Gly272=)
c.*286G= (n.*286G=)
c.813G= (p.Gly271=)
c.420G= (p.Gly140=)
c.*470G= (n.*470G=)
c.960G= (p.Gly320=)
16g.29814424G>TCA395480743PRRT2c.971G>T (p.Gly324Val)
c.431G>T (p.Gly144Val)
c.*147G>T (n.*147G>T)
c.816G>T (p.Gly272=)
c.*286G>T (n.*286G>T)
c.813G>T (p.Gly271=)
c.420G>T (p.Gly140=)
c.*470G>T (n.*470G>T)
c.960G>T (p.Gly320=)
 ClinVar dbSNP gnomAD v4
16g.29814424_29814425delinsGACA2216294545PRRT2c.971_972delinsGA (p.Gly324=)
c.431_432delinsGA (p.Gly144=)
c.*147_*148delinsGA (n.*147_*148delinsGA)
c.816_817delinsGA (p.Gly272=)
c.*286_*287delinsGA (n.*286_*287delinsGA)
c.813_814delinsGA (p.Gly271=)
c.420_421delinsGA (p.Gly140=)
c.*470_*471delinsGA (n.*470_*471delinsGA)
c.960_961delinsGA (p.Gly320=)
16g.29814424_29814428delinsGAGTCCA2216294547PRRT2c.971_975delinsGAGTC (p.Gly324=)
c.431_435delinsGAGTC (p.Gly144=)
c.*147_*151delinsGAGTC (n.*147_*151delinsGAGTC)
c.816_820delinsGAGTC (p.Gly272=)
c.*286_*290delinsGAGTC (n.*286_*290delinsGAGTC)
c.813_817delinsGAGTC (p.Gly271=)
c.420_424delinsGAGTC (p.Gly140=)
c.*470_*474delinsGAGTC (n.*470_*474delinsGAGTC)
c.960_964delinsGAGTC (p.Gly320=)
16g.29814425delCA259998PRRT2c.972del (p.Val325SerfsTer12)
c.432del (p.Val145SerfsTer?)
c.*148del (n.*148del)
c.817del (p.Ser273ValfsTer17)
c.*287del (n.*287del)
c.814del (p.Ser272ValfsTer17)
c.421del (p.Ser141ValfsTer17)
c.*471del (n.*471del)
c.961del (p.Ser321ValfsTer18)
 ClinVar dbSNP
16g.29814425A=CA2216294548PRRT2c.972A= (p.Gly324=)
c.432A= (p.Gly144=)
c.*148A= (n.*148A=)
c.817A= (p.Ser273=)
c.*287A= (n.*287A=)
c.814A= (p.Ser272=)
c.421A= (p.Ser141=)
c.*471A= (n.*471A=)
c.961A= (p.Ser321=)
16g.29814425A>CCA494582876PRRT2c.972A>C (p.Gly324=)
c.432A>C (p.Gly144=)
c.*148A>C (n.*148A>C)
c.817A>C (p.Ser273Arg)
c.*287A>C (n.*287A>C)
c.814A>C (p.Ser272Arg)
c.421A>C (p.Ser141Arg)
c.*471A>C (n.*471A>C)
c.961A>C (p.Ser321Arg)
 gnomAD v4
16g.29814425A>GCA494582880PRRT2c.972A>G (p.Gly324=)
c.432A>G (p.Gly144=)
c.*148A>G (n.*148A>G)
c.817A>G (p.Ser273Gly)
c.*287A>G (n.*287A>G)
c.814A>G (p.Ser272Gly)
c.421A>G (p.Ser141Gly)
c.*471A>G (n.*471A>G)
c.961A>G (p.Ser321Gly)
 dbSNP gnomAD v4
16g.29814425A>TCA494582879PRRT2c.972A>T (p.Gly324=)
c.432A>T (p.Gly144=)
c.*148A>T (n.*148A>T)
c.817A>T (p.Ser273Cys)
c.*287A>T (n.*287A>T)
c.814A>T (p.Ser272Cys)
c.421A>T (p.Ser141Cys)
c.*471A>T (n.*471A>T)
c.961A>T (p.Ser321Cys)
16g.29814425_29814428delCA658798587PRRT2c.972_975del (p.Val325SerfsTer11)
c.432_435del (p.Gly144=)
c.*148_*151del (n.*148_*151del)
c.817_820del (p.Ser273LeufsTer16)
c.*287_*290del (n.*287_*290del)
c.814_817del (p.Ser272LeufsTer16)
c.421_424del (p.Ser141LeufsTer16)
c.*471_*474del (n.*471_*474del)
c.961_964del (p.Ser321LeufsTer17)
 ClinVar dbSNP
16g.29814426G>ACA395480745PRRT2c.973G>A (p.Val325Ile)
c.433G>A (p.Val145Ile)
c.*149G>A (n.*149G>A)
c.818G>A (p.Ser273Asn)
c.*288G>A (n.*288G>A)
c.815G>A (p.Ser272Asn)
c.422G>A (p.Ser141Asn)
c.*472G>A (n.*472G>A)
c.962G>A (p.Ser321Asn)
 ClinVar dbSNP gnomAD v4
16g.29814426G>CCA395480749PRRT2c.973G>C (p.Val325Leu)
c.433G>C (p.Val145Leu)
c.*149G>C (n.*149G>C)
c.818G>C (p.Ser273Thr)
c.*288G>C (n.*288G>C)
c.815G>C (p.Ser272Thr)
c.422G>C (p.Ser141Thr)
c.*472G>C (n.*472G>C)
c.962G>C (p.Ser321Thr)
16g.29814426G>TCA395480747PRRT2c.973G>T (p.Val325Phe)
c.433G>T (p.Val145Phe)
c.*149G>T (n.*149G>T)
c.818G>T (p.Ser273Ile)
c.*288G>T (n.*288G>T)
c.815G>T (p.Ser272Ile)
c.422G>T (p.Ser141Ile)
c.*472G>T (n.*472G>T)
c.962G>T (p.Ser321Ile)
16g.29814426_29814429delinsGTCCCA2216294549PRRT2c.973_976delinsGTCC (p.Val325=)
c.433_436delinsGTCC (p.Val145=)
c.*149_*152delinsGTCC (n.*149_*152delinsGTCC)
c.818_821delinsGTCC (p.Ser273=)
c.*288_*291delinsGTCC (n.*288_*291delinsGTCC)
c.815_818delinsGTCC (p.Ser272=)
c.422_425delinsGTCC (p.Ser141=)
c.*472_*475delinsGTCC (n.*472_*475delinsGTCC)
c.962_965delinsGTCC (p.Ser321=)
16g.29814427T>ACA395480751PRRT2c.974T>A (p.Val325Asp)
c.434T>A (p.Val145Asp)
c.*150T>A (n.*150T>A)
c.819T>A (p.Ser273Arg)
c.*289T>A (n.*289T>A)
c.816T>A (p.Ser272Arg)
c.423T>A (p.Ser141Arg)
c.*473T>A (n.*473T>A)
c.963T>A (p.Ser321Arg)
16g.29814427T>CCA7994634PRRT2c.974T>C (p.Val325Ala)
c.434T>C (p.Val145Ala)
c.*150T>C (n.*150T>C)
c.819T>C (p.Ser273=)
c.*289T>C (n.*289T>C)
c.816T>C (p.Ser272=)
c.423T>C (p.Ser141=)
c.*473T>C (n.*473T>C)
c.963T>C (p.Ser321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.29814427T>GCA395480753PRRT2c.974T>G (p.Val325Gly)
c.434T>G (p.Val145Gly)
c.*150T>G (n.*150T>G)
c.819T>G (p.Ser273Arg)
c.*289T>G (n.*289T>G)
c.816T>G (p.Ser272Arg)
c.423T>G (p.Ser141Arg)
c.*473T>G (n.*473T>G)
c.963T>G (p.Ser321Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.29814427T=CA2216294550PRRT2c.974T= (p.Val325=)
c.434T= (p.Val145=)
c.*150T= (n.*150T=)
c.819T= (p.Ser273=)
c.*289T= (n.*289T=)
c.816T= (p.Ser272=)
c.423T= (p.Ser141=)
c.*473T= (n.*473T=)
c.963T= (p.Ser321=)
16g.29814429_29814431delCA7994633PRRT2c.976_978del (p.Leu326del)
c.*152_*154del (n.*152_*154del)
c.821_823del (p.Pro274del)
c.*291_*293del (n.*291_*293del)
c.818_820del (p.Pro273del)
c.425_427del (p.Pro142del)
c.*475_*477del (n.*475_*477del)
c.965_967del (p.Pro322del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.29814428C>ACA494582889PRRT2c.975C>A (p.Val325=)
c.435C>A (p.Val145=)
c.*151C>A (n.*151C>A)
c.820C>A (p.Pro274Thr)
c.*290C>A (n.*290C>A)
c.817C>A (p.Pro273Thr)
c.424C>A (p.Pro142Thr)
c.*474C>A (n.*474C>A)
c.964C>A (p.Pro322Thr)
 gnomAD v4
16g.29814428C>GCA494582891PRRT2c.975C>G (p.Val325=)
c.435C>G (p.Val145=)
c.*151C>G (n.*151C>G)
c.820C>G (p.Pro274Ala)
c.*290C>G (n.*290C>G)
c.817C>G (p.Pro273Ala)
c.424C>G (p.Pro142Ala)
c.*474C>G (n.*474C>G)
c.964C>G (p.Pro322Ala)
16g.29814428C>TCA494582893PRRT2c.975C>T (p.Val325=)
c.435C>T (p.Val145=)
c.*151C>T (n.*151C>T)
c.820C>T (p.Pro274Ser)
c.*290C>T (n.*290C>T)
c.817C>T (p.Pro273Ser)
c.424C>T (p.Pro142Ser)
c.*474C>T (n.*474C>T)
c.964C>T (p.Pro322Ser)
16g.29814429delCA2697555755PRRT2c.976del (p.Leu326SerfsTer11)
c.436del
c.*152del (n.*152del)
c.821del (p.Pro274LeufsTer16)
c.*291del (n.*291del)
c.818del (p.Pro273LeufsTer16)
c.425del (p.Pro142LeufsTer16)
c.*475del (n.*475del)
c.965del (p.Pro322LeufsTer17)
 ClinVar
16g.29814429C>ACA395480754PRRT2c.976C>A (p.Leu326Ile)
c.436C>A
c.*152C>A (n.*152C>A)
c.821C>A (p.Pro274His)
c.*291C>A (n.*291C>A)
c.818C>A (p.Pro273His)
c.425C>A (p.Pro142His)
c.*475C>A (n.*475C>A)
c.965C>A (p.Pro322His)
 ClinVar dbSNP gnomAD v4
16g.29814429C=CA2216294552PRRT2c.976C= (p.Leu326=)
c.436C=
c.*152C= (n.*152C=)
c.821C= (p.Pro274=)
c.*291C= (n.*291C=)
c.818C= (p.Pro273=)
c.425C= (p.Pro142=)
c.*475C= (n.*475C=)
c.965C= (p.Pro322=)
16g.29814429C>GCA395480755PRRT2c.976C>G (p.Leu326Val)
c.436C>G
c.*152C>G (n.*152C>G)
c.821C>G (p.Pro274Arg)
c.*291C>G (n.*291C>G)
c.818C>G (p.Pro273Arg)
c.425C>G (p.Pro142Arg)
c.*475C>G (n.*475C>G)
c.965C>G (p.Pro322Arg)
 dbSNP gnomAD v4
16g.29814429C>TCA395480757PRRT2c.976C>T (p.Leu326Phe)
c.436C>T
c.*152C>T (n.*152C>T)
c.821C>T (p.Pro274Leu)
c.*291C>T (n.*291C>T)
c.818C>T (p.Pro273Leu)
c.425C>T (p.Pro142Leu)
c.*475C>T (n.*475C>T)
c.965C>T (p.Pro322Leu)
16g.29814429_29814432delinsCTCACA2216294551PRRT2c.976_979delinsCTCA (p.Leu326=)
c.*152_*155delinsCTCA (n.*152_*155delinsCTCA)
c.821_824delinsCTCA (p.Pro274=)
c.*291_*294delinsCTCA (n.*291_*294delinsCTCA)
c.818_821delinsCTCA (p.Pro273=)
c.425_428delinsCTCA (p.Pro142=)
c.*475_*478delinsCTCA (n.*475_*478delinsCTCA)
c.965_968delinsCTCA (p.Pro322=)

Number of alleles fetched