Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.34341977A>CCA489409933NOP10c.*17T>G (n.*17T>G)
c.189T>G (p.Pro63=)
c.159+27T>G (n.159+27T>G)
c.210T>G (p.Pro70=)
c.120T>G (p.Pro40=)
c.171T>G (p.Pro57=)
n.333T>G
c.186T>G (p.Pro62=)
15g.34341977A>GCA7464761NOP10c.*17T>C (n.*17T>C)
c.189T>C (p.Pro63=)
c.159+27T>C (n.159+27T>C)
c.210T>C (p.Pro70=)
c.120T>C (p.Pro40=)
c.171T>C (p.Pro57=)
n.333T>C
c.186T>C (p.Pro62=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34341977A>TCA489409932NOP10c.*17T>A (n.*17T>A)
c.189T>A (p.Pro63=)
c.159+27T>A (n.159+27T>A)
c.210T>A (p.Pro70=)
c.120T>A (p.Pro40=)
c.171T>A (p.Pro57=)
n.333T>A
c.186T>A (p.Pro62=)
 gnomAD v4
15g.34341978G>ACA268645224NOP10c.*16C>T (n.*16C>T)
c.188C>T (p.Pro63Leu)
c.159+26C>T (n.159+26C>T)
c.209C>T (p.Pro70Leu)
c.119C>T (p.Pro40Leu)
c.170C>T (p.Pro57Leu)
n.332C>T
c.185C>T (p.Pro62Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.34341978G>CCA391621930NOP10c.*16C>G (n.*16C>G)
c.188C>G (p.Pro63Arg)
c.159+26C>G (n.159+26C>G)
c.209C>G (p.Pro70Arg)
c.119C>G (p.Pro40Arg)
c.170C>G (p.Pro57Arg)
n.332C>G
c.185C>G (p.Pro62Arg)
15g.34341978G>TCA391621931NOP10c.*16C>A (n.*16C>A)
c.188C>A (p.Pro63His)
c.159+26C>A (n.159+26C>A)
c.209C>A (p.Pro70His)
c.119C>A (p.Pro40His)
c.170C>A (p.Pro57His)
n.332C>A
c.185C>A (p.Pro62His)
15g.34341979G>ACA391621932NOP10c.*15C>T (n.*15C>T)
c.187C>T (p.Pro63Ser)
c.159+25C>T (n.159+25C>T)
c.208C>T (p.Pro70Ser)
c.118C>T (p.Pro40Ser)
c.169C>T (p.Pro57Ser)
n.331C>T
c.184C>T (p.Pro62Ser)
15g.34341979G>CCA391621933NOP10c.*15C>G (n.*15C>G)
c.187C>G (p.Pro63Ala)
c.159+25C>G (n.159+25C>G)
c.208C>G (p.Pro70Ala)
c.118C>G (p.Pro40Ala)
c.169C>G (p.Pro57Ala)
n.331C>G
c.184C>G (p.Pro62Ala)
15g.34341979G>TCA391621934NOP10c.*15C>A (n.*15C>A)
c.187C>A (p.Pro63Thr)
c.159+25C>A (n.159+25C>A)
c.208C>A (p.Pro70Thr)
c.118C>A (p.Pro40Thr)
c.169C>A (p.Pro57Thr)
n.331C>A
c.184C>A (p.Pro62Thr)
15g.34341980G>ACA489409940NOP10c.*14C>T (n.*14C>T)
c.186C>T (p.Arg62=)
c.159+24C>T (n.159+24C>T)
c.207C>T (p.Arg69=)
c.117C>T (p.Arg39=)
c.168C>T (p.Arg56=)
n.330C>T
c.183C>T (p.Arg61=)
 dbSNP
15g.34341980G>CCA489409939NOP10c.*14C>G (n.*14C>G)
c.186C>G (p.Arg62=)
c.159+24C>G (n.159+24C>G)
c.207C>G (p.Arg69=)
c.117C>G (p.Arg39=)
c.168C>G (p.Arg56=)
n.330C>G
c.183C>G (p.Arg61=)
15g.34341980G>TCA489409938NOP10c.*14C>A (n.*14C>A)
c.186C>A (p.Arg62=)
c.159+24C>A (n.159+24C>A)
c.207C>A (p.Arg69=)
c.117C>A (p.Arg39=)
c.168C>A (p.Arg56=)
n.330C>A
c.183C>A (p.Arg61=)
15g.34341981C>ACA391621935NOP10c.*13G>T (n.*13G>T)
c.185G>T (p.Arg62Leu)
c.159+23G>T (n.159+23G>T)
c.206G>T (p.Arg69Leu)
c.116G>T (p.Arg39Leu)
c.167G>T (p.Arg56Leu)
n.329G>T
c.182G>T (p.Arg61Leu)
 gnomAD v4
15g.34341981C>GCA391621936NOP10c.*13G>C (n.*13G>C)
c.185G>C (p.Arg62Pro)
c.159+23G>C (n.159+23G>C)
c.206G>C (p.Arg69Pro)
c.116G>C (p.Arg39Pro)
c.167G>C (p.Arg56Pro)
n.329G>C
c.182G>C (p.Arg61Pro)
15g.34341981C>TCA391621937NOP10c.*13G>A (n.*13G>A)
c.185G>A (p.Arg62His)
c.159+23G>A (n.159+23G>A)
c.206G>A (p.Arg69His)
c.116G>A (p.Arg39His)
c.167G>A (p.Arg56His)
n.329G>A
c.182G>A (p.Arg61His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.34341982G>ACA391621938NOP10c.*12C>T (n.*12C>T)
c.184C>T (p.Arg62Cys)
c.159+22C>T (n.159+22C>T)
c.205C>T (p.Arg69Cys)
c.115C>T (p.Arg39Cys)
c.166C>T (p.Arg56Cys)
n.328C>T
c.181C>T (p.Arg61Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.34341982G>CCA391621939NOP10c.*12C>G (n.*12C>G)
c.184C>G (p.Arg62Gly)
c.159+22C>G (n.159+22C>G)
c.205C>G (p.Arg69Gly)
c.115C>G (p.Arg39Gly)
c.166C>G (p.Arg56Gly)
n.328C>G
c.181C>G (p.Arg61Gly)
15g.34341982G>TCA391621940NOP10c.*12C>A (n.*12C>A)
c.184C>A (p.Arg62Ser)
c.159+22C>A (n.159+22C>A)
c.205C>A (p.Arg69Ser)
c.115C>A (p.Arg39Ser)
c.166C>A (p.Arg56Ser)
n.328C>A
c.181C>A (p.Arg61Ser)
15g.34341983C>ACA489409944NOP10c.*11G>T (n.*11G>T)
c.183G>T (p.Pro61=)
c.159+21G>T (n.159+21G>T)
c.204G>T (p.Pro68=)
c.114G>T (p.Pro38=)
c.165G>T (p.Pro55=)
n.327G>T
c.180G>T (p.Pro60=)
15g.34341983C>GCA489409942NOP10c.*11G>C (n.*11G>C)
c.183G>C (p.Pro61=)
c.159+21G>C (n.159+21G>C)
c.204G>C (p.Pro68=)
c.114G>C (p.Pro38=)
c.165G>C (p.Pro55=)
n.327G>C
c.180G>C (p.Pro60=)
15g.34341983C>TCA489409943NOP10c.*11G>A (n.*11G>A)
c.183G>A (p.Pro61=)
c.159+21G>A (n.159+21G>A)
c.204G>A (p.Pro68=)
c.114G>A (p.Pro38=)
c.165G>A (p.Pro55=)
n.327G>A
c.180G>A (p.Pro60=)
 gnomAD v4 COSMIC
15g.34341984G>ACA7464762NOP10c.*10C>T (n.*10C>T)
c.182C>T (p.Pro61Leu)
c.159+20C>T (n.159+20C>T)
c.203C>T (p.Pro68Leu)
c.113C>T (p.Pro38Leu)
c.164C>T (p.Pro55Leu)
n.326C>T
c.179C>T (p.Pro60Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34341984G>CCA391621941NOP10c.*10C>G (n.*10C>G)
c.182C>G (p.Pro61Arg)
c.159+20C>G (n.159+20C>G)
c.203C>G (p.Pro68Arg)
c.113C>G (p.Pro38Arg)
c.164C>G (p.Pro55Arg)
n.326C>G
c.179C>G (p.Pro60Arg)
15g.34341984G>TCA391621942NOP10c.*10C>A (n.*10C>A)
c.182C>A (p.Pro61Gln)
c.159+20C>A (n.159+20C>A)
c.203C>A (p.Pro68Gln)
c.113C>A (p.Pro38Gln)
c.164C>A (p.Pro55Gln)
n.326C>A
c.179C>A (p.Pro60Gln)
15g.34341985G>ACA391621943NOP10c.*9C>T (n.*9C>T)
c.181C>T (p.Pro61Ser)
c.159+19C>T (n.159+19C>T)
c.202C>T (p.Pro68Ser)
c.112C>T (p.Pro38Ser)
c.163C>T (p.Pro55Ser)
n.325C>T
c.178C>T (p.Pro60Ser)
15g.34341985G>CCA391621945NOP10c.*9C>G (n.*9C>G)
c.181C>G (p.Pro61Ala)
c.159+19C>G (n.159+19C>G)
c.202C>G (p.Pro68Ala)
c.112C>G (p.Pro38Ala)
c.163C>G (p.Pro55Ala)
n.325C>G
c.178C>G (p.Pro60Ala)
15g.34341985G>TCA391621944NOP10c.*9C>A (n.*9C>A)
c.181C>A (p.Pro61Thr)
c.159+19C>A (n.159+19C>A)
c.202C>A (p.Pro68Thr)
c.112C>A (p.Pro38Thr)
c.163C>A (p.Pro55Thr)
n.325C>A
c.178C>A (p.Pro60Thr)
15g.34341986T>ACA391621946NOP10c.*8A>T (n.*8A>T)
c.180A>T (p.Gln60His)
c.159+18A>T (n.159+18A>T)
c.201A>T (p.Gln67His)
c.111A>T (p.Gln37His)
c.162A>T (p.Gln54His)
n.324A>T
c.177A>T (p.Gln59His)
15g.34341986T>CCA489409945NOP10c.*8A>G (n.*8A>G)
c.180A>G (p.Gln60=)
c.159+18A>G (n.159+18A>G)
c.201A>G (p.Gln67=)
c.111A>G (p.Gln37=)
c.162A>G (p.Gln54=)
n.324A>G
c.177A>G (p.Gln59=)
15g.34341986T>GCA391621947NOP10c.*8A>C (n.*8A>C)
c.180A>C (p.Gln60His)
c.159+18A>C (n.159+18A>C)
c.201A>C (p.Gln67His)
c.111A>C (p.Gln37His)
c.162A>C (p.Gln54His)
n.324A>C
c.177A>C (p.Gln59His)
15g.34341987T>ACA391621948NOP10c.*7A>T (n.*7A>T)
c.179A>T (p.Gln60Leu)
c.159+17A>T (n.159+17A>T)
c.200A>T (p.Gln67Leu)
c.110A>T (p.Gln37Leu)
c.161A>T (p.Gln54Leu)
n.323A>T
c.176A>T (p.Gln59Leu)
15g.34341987T>CCA391621949NOP10c.*7A>G (n.*7A>G)
c.179A>G (p.Gln60Arg)
c.159+17A>G (n.159+17A>G)
c.200A>G (p.Gln67Arg)
c.110A>G (p.Gln37Arg)
c.161A>G (p.Gln54Arg)
n.323A>G
c.176A>G (p.Gln59Arg)
15g.34341987T>GCA391621950NOP10c.*7A>C (n.*7A>C)
c.179A>C (p.Gln60Pro)
c.159+17A>C (n.159+17A>C)
c.200A>C (p.Gln67Pro)
c.110A>C (p.Gln37Pro)
c.161A>C (p.Gln54Pro)
n.323A>C
c.176A>C (p.Gln59Pro)
15g.34341988G>ACA391621951NOP10c.*6C>T (n.*6C>T)
c.178C>T (p.Gln60Ter)
c.159+16C>T (n.159+16C>T)
c.199C>T (p.Gln67Ter)
c.109C>T (p.Gln37Ter)
c.160C>T (p.Gln54Ter)
n.322C>T
c.175C>T (p.Gln59Ter)
 dbSNP
15g.34341988G>CCA391621952NOP10c.*6C>G (n.*6C>G)
c.178C>G (p.Gln60Glu)
c.159+16C>G (n.159+16C>G)
c.199C>G (p.Gln67Glu)
c.109C>G (p.Gln37Glu)
c.160C>G (p.Gln54Glu)
n.322C>G
c.175C>G (p.Gln59Glu)
15g.34341988G>TCA7464763NOP10c.*6C>A (n.*6C>A)
c.178C>A (p.Gln60Lys)
c.159+16C>A (n.159+16C>A)
c.199C>A (p.Gln67Lys)
c.109C>A (p.Gln37Lys)
c.160C>A (p.Gln54Lys)
n.322C>A
c.175C>A (p.Gln59Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34341989C>ACA391621953NOP10c.*5G>T (n.*5G>T)
c.177G>T (p.Gln59His)
c.159+15G>T (n.159+15G>T)
c.198G>T (p.Gln66His)
c.108G>T (p.Gln36His)
c.159G>T (p.Gln53His)
n.321G>T
c.174G>T (p.Gln58His)
15g.34341989C>GCA391621954NOP10c.*5G>C (n.*5G>C)
c.177G>C (p.Gln59His)
c.159+15G>C (n.159+15G>C)
c.198G>C (p.Gln66His)
c.108G>C (p.Gln36His)
c.159G>C (p.Gln53His)
n.321G>C
c.174G>C (p.Gln58His)
15g.34341989C>TCA489409951NOP10c.*5G>A (n.*5G>A)
c.177G>A (p.Gln59=)
c.159+15G>A (n.159+15G>A)
c.198G>A (p.Gln66=)
c.108G>A (p.Gln36=)
c.159G>A (p.Gln53=)
n.321G>A
c.174G>A (p.Gln58=)
15g.34341990T>ACA391621955NOP10c.*4A>T (n.*4A>T)
c.176A>T (p.Gln59Leu)
c.159+14A>T (n.159+14A>T)
c.197A>T (p.Gln66Leu)
c.107A>T (p.Gln36Leu)
c.158A>T (p.Gln53Leu)
n.320A>T
c.173A>T (p.Gln58Leu)
15g.34341990T>CCA391621956NOP10c.*4A>G (n.*4A>G)
c.176A>G (p.Gln59Arg)
c.159+14A>G (n.159+14A>G)
c.197A>G (p.Gln66Arg)
c.107A>G (p.Gln36Arg)
c.158A>G (p.Gln53Arg)
n.320A>G
c.173A>G (p.Gln58Arg)
 ClinVar gnomAD v4
15g.34341990T>GCA391621957NOP10c.*4A>C (n.*4A>C)
c.176A>C (p.Gln59Pro)
c.159+14A>C (n.159+14A>C)
c.197A>C (p.Gln66Pro)
c.107A>C (p.Gln36Pro)
c.158A>C (p.Gln53Pro)
n.320A>C
c.173A>C (p.Gln58Pro)
15g.34341991G>ACA391621960NOP10c.*3C>T (n.*3C>T)
c.175C>T (p.Gln59Ter)
c.159+13C>T (n.159+13C>T)
c.196C>T (p.Gln66Ter)
c.106C>T (p.Gln36Ter)
c.157C>T (p.Gln53Ter)
n.319C>T
c.172C>T (p.Gln58Ter)
 dbSNP gnomAD v4
15g.34341991G>CCA391621959NOP10c.*3C>G (n.*3C>G)
c.175C>G (p.Gln59Glu)
c.159+13C>G (n.159+13C>G)
c.196C>G (p.Gln66Glu)
c.106C>G (p.Gln36Glu)
c.157C>G (p.Gln53Glu)
n.319C>G
c.172C>G (p.Gln58Glu)
15g.34341991G>TCA391621958NOP10c.*3C>A (n.*3C>A)
c.175C>A (p.Gln59Lys)
c.159+13C>A (n.159+13C>A)
c.196C>A (p.Gln66Lys)
c.106C>A (p.Gln36Lys)
c.157C>A (p.Gln53Lys)
n.319C>A
c.172C>A (p.Gln58Lys)
15g.34341992G>ACA489409961NOP10c.*2C>T (n.*2C>T)
c.174C>T (p.Thr58=)
c.159+12C>T (n.159+12C>T)
c.195C>T (p.Thr65=)
c.105C>T (p.Thr35=)
c.156C>T (p.Thr52=)
n.318C>T
c.171C>T (p.Thr57=)
15g.34341992G>CCA489409960NOP10c.*2C>G (n.*2C>G)
c.174C>G (p.Thr58=)
c.159+12C>G (n.159+12C>G)
c.195C>G (p.Thr65=)
c.105C>G (p.Thr35=)
c.156C>G (p.Thr52=)
n.318C>G
c.171C>G (p.Thr57=)
15g.34341992G>TCA489409959NOP10c.*2C>A (n.*2C>A)
c.174C>A (p.Thr58=)
c.159+12C>A (n.159+12C>A)
c.195C>A (p.Thr65=)
c.105C>A (p.Thr35=)
c.156C>A (p.Thr52=)
n.318C>A
c.171C>A (p.Thr57=)
 gnomAD v4
15g.34341993G>ACA391621961NOP10c.*1C>T (n.*1C>T)
c.173C>T (p.Thr58Ile)
c.159+11C>T (n.159+11C>T)
c.194C>T (p.Thr65Ile)
c.104C>T (p.Thr35Ile)
c.155C>T (p.Thr52Ile)
n.317C>T
c.170C>T (p.Thr57Ile)
 gnomAD v4
15g.34341993G>CCA391621962NOP10c.*1C>G (n.*1C>G)
c.173C>G (p.Thr58Ser)
c.159+11C>G (n.159+11C>G)
c.194C>G (p.Thr65Ser)
c.104C>G (p.Thr35Ser)
c.155C>G (p.Thr52Ser)
n.317C>G
c.170C>G (p.Thr57Ser)
 gnomAD v4
15g.34341993G>TCA391621963NOP10c.*1C>A (n.*1C>A)
c.173C>A (p.Thr58Asn)
c.159+11C>A (n.159+11C>A)
c.194C>A (p.Thr65Asn)
c.104C>A (p.Thr35Asn)
c.155C>A (p.Thr52Asn)
n.317C>A
c.170C>A (p.Thr57Asn)
15g.34341994T>ACA391621964NOP10c.111A>T (p.Ter37Cys)
c.172A>T (p.Thr58Ser)
c.159+10A>T (n.159+10A>T)
c.193A>T (p.Thr65Ser)
c.103A>T (p.Thr35Ser)
c.154A>T (p.Thr52Ser)
n.316A>T
c.169A>T (p.Thr57Ser)
15g.34341994T>CCA391621965NOP10c.111A>G (p.Ter37Trp)
c.172A>G (p.Thr58Ala)
c.159+10A>G (n.159+10A>G)
c.193A>G (p.Thr65Ala)
c.103A>G (p.Thr35Ala)
c.154A>G (p.Thr52Ala)
n.316A>G
c.169A>G (p.Thr57Ala)
15g.34341994T>GCA391621966NOP10c.111A>C (p.Ter37Cys)
c.172A>C (p.Thr58Pro)
c.159+10A>C (n.159+10A>C)
c.193A>C (p.Thr65Pro)
c.103A>C (p.Thr35Pro)
c.154A>C (p.Thr52Pro)
n.316A>C
c.169A>C (p.Thr57Pro)
15g.34341995C>ACA391621967NOP10c.110G>T (p.Ter37Leu)
c.171G>T (p.Met57Ile)
c.159+9G>T (n.159+9G>T)
c.192G>T (p.Met64Ile)
c.102G>T (p.Met34Ile)
c.153G>T (p.Met51Ile)
n.315G>T
c.168G>T (p.Met56Ile)
15g.34341995C>GCA391621968NOP10c.110G>C (p.Ter37Ser)
c.171G>C (p.Met57Ile)
c.159+9G>C (n.159+9G>C)
c.192G>C (p.Met64Ile)
c.102G>C (p.Met34Ile)
c.153G>C (p.Met51Ile)
n.315G>C
c.168G>C (p.Met56Ile)
15g.34341995C>TCA391621969NOP10c.110G>A (p.Ter37=)
c.171G>A (p.Met57Ile)
c.159+9G>A (n.159+9G>A)
c.192G>A (p.Met64Ile)
c.102G>A (p.Met34Ile)
c.153G>A (p.Met51Ile)
n.315G>A
c.168G>A (p.Met56Ile)
15g.34341996A>CCA391621970NOP10c.109T>G (p.Ter37Gly)
c.170T>G (p.Met57Arg)
c.159+8T>G (n.159+8T>G)
c.191T>G (p.Met64Arg)
c.101T>G (p.Met34Arg)
c.152T>G (p.Met51Arg)
n.314T>G
c.167T>G (p.Met56Arg)
15g.34341996A>GCA391621971NOP10c.109T>C (p.Ter37Arg)
c.170T>C (p.Met57Thr)
c.159+8T>C (n.159+8T>C)
c.191T>C (p.Met64Thr)
c.101T>C (p.Met34Thr)
c.152T>C (p.Met51Thr)
n.314T>C
c.167T>C (p.Met56Thr)
15g.34341996A>TCA391621972NOP10c.109T>A (p.Ter37Arg)
c.170T>A (p.Met57Lys)
c.159+8T>A (n.159+8T>A)
c.191T>A (p.Met64Lys)
c.101T>A (p.Met34Lys)
c.152T>A (p.Met51Lys)
n.314T>A
c.167T>A (p.Met56Lys)
15g.34341997T>ACA391621975NOP10c.108A>T (p.Ser36=)
c.169A>T (p.Met57Leu)
c.159+7A>T (n.159+7A>T)
c.190A>T (p.Met64Leu)
c.100A>T (p.Met34Leu)
c.151A>T (p.Met51Leu)
n.313A>T
c.166A>T (p.Met56Leu)
15g.34341997T>CCA391621974NOP10c.108A>G (p.Ser36=)
c.169A>G (p.Met57Val)
c.159+7A>G (n.159+7A>G)
c.190A>G (p.Met64Val)
c.100A>G (p.Met34Val)
c.151A>G (p.Met51Val)
n.313A>G
c.166A>G (p.Met56Val)
 gnomAD v4
15g.34341997T>GCA391621973NOP10c.108A>C (p.Ser36=)
c.169A>C (p.Met57Leu)
c.159+7A>C (n.159+7A>C)
c.190A>C (p.Met64Leu)
c.100A>C (p.Met34Leu)
c.151A>C (p.Met51Leu)
n.313A>C
c.166A>C (p.Met56Leu)
15g.34342000_34342008delCA2627640130NOP10c.100_108del (p.Arg34_Ser36del)
c.161_169del (p.Lys54_Leu56del)
c.158_159+7del
c.182_190del (p.Lys61_Leu63del)
c.92_100del (p.Lys31_Leu33del)
c.143_151del (p.Lys48_Leu50del)
n.305_313del
c.158_166del (p.Lys53_Leu55del)
 gnomAD v4
15g.34341998G>ACA391621976NOP10c.107C>T (p.Ser36Leu)
c.168C>T (p.Leu56=)
c.159+6C>T (n.159+6C>T)
c.189C>T (p.Leu63=)
c.99C>T (p.Leu33=)
c.150C>T (p.Leu50=)
n.312C>T
c.165C>T (p.Leu55=)
 ClinVar dbSNP
15g.34341998G>CCA391621977NOP10c.107C>G (p.Ser36Ter)
c.168C>G (p.Leu56=)
c.159+6C>G (n.159+6C>G)
c.189C>G (p.Leu63=)
c.99C>G (p.Leu33=)
c.150C>G (p.Leu50=)
n.312C>G
c.165C>G (p.Leu55=)
15g.34341998G>TCA391621978NOP10c.107C>A (p.Ser36Ter)
c.168C>A (p.Leu56=)
c.159+6C>A (n.159+6C>A)
c.189C>A (p.Leu63=)
c.99C>A (p.Leu33=)
c.150C>A (p.Leu50=)
n.312C>A
c.165C>A (p.Leu55=)
15g.34341999A>CCA391621979NOP10c.106T>G (p.Ser36Ala)
c.167T>G (p.Leu56Arg)
c.159+5T>G (n.159+5T>G)
c.188T>G (p.Leu63Arg)
c.98T>G (p.Leu33Arg)
c.149T>G (p.Leu50Arg)
n.311T>G
c.164T>G (p.Leu55Arg)
15g.34341999A>GCA391621980NOP10c.106T>C (p.Ser36Pro)
c.167T>C (p.Leu56Pro)
c.159+5T>C (n.159+5T>C)
c.188T>C (p.Leu63Pro)
c.98T>C (p.Leu33Pro)
c.149T>C (p.Leu50Pro)
n.311T>C
c.164T>C (p.Leu55Pro)
15g.34341999A>TCA391621981NOP10c.106T>A (p.Ser36Thr)
c.167T>A (p.Leu56His)
c.159+5T>A (n.159+5T>A)
c.188T>A (p.Leu63His)
c.98T>A (p.Leu33His)
c.149T>A (p.Leu50His)
n.311T>A
c.164T>A (p.Leu55His)
15g.34342000G>ACA7464764NOP10c.105C>T (p.Cys35=)
c.166C>T (p.Leu56Phe)
c.159+4C>T (n.159+4C>T)
c.187C>T (p.Leu63Phe)
c.97C>T (p.Leu33Phe)
c.148C>T (p.Leu50Phe)
n.310C>T
c.163C>T (p.Leu55Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342000G>CCA391621982NOP10c.105C>G (p.Cys35Trp)
c.166C>G (p.Leu56Val)
c.159+4C>G (n.159+4C>G)
c.187C>G (p.Leu63Val)
c.97C>G (p.Leu33Val)
c.148C>G (p.Leu50Val)
n.310C>G
c.163C>G (p.Leu55Val)
15g.34342000G>TCA391621983NOP10c.105C>A (p.Cys35Ter)
c.166C>A (p.Leu56Ile)
c.159+4C>A (n.159+4C>A)
c.187C>A (p.Leu63Ile)
c.97C>A (p.Leu33Ile)
c.148C>A (p.Leu50Ile)
n.310C>A
c.163C>A (p.Leu55Ile)
15g.34342001C>ACA391621984NOP10c.104G>T (p.Cys35Phe)
c.165G>T (p.Val55=)
c.159+3G>T (n.159+3G>T)
c.186G>T (p.Val62=)
c.96G>T (p.Val32=)
c.147G>T (p.Val49=)
n.309G>T
c.162G>T (p.Val54=)
15g.34342001C>GCA391621985NOP10c.104G>C (p.Cys35Ser)
c.165G>C (p.Val55=)
c.159+3G>C (n.159+3G>C)
c.186G>C (p.Val62=)
c.96G>C (p.Val32=)
c.147G>C (p.Val49=)
n.309G>C
c.162G>C (p.Val54=)
15g.34342001C>TCA391621986NOP10c.104G>A (p.Cys35Tyr)
c.165G>A (p.Val55=)
c.159+3G>A (n.159+3G>A)
c.186G>A (p.Val62=)
c.96G>A (p.Val32=)
c.147G>A (p.Val49=)
n.309G>A
c.162G>A (p.Val54=)
 gnomAD v4
15g.34342001_34342002insCCCA968547386NOP10c.104_105insGG (p.Cys35TrpfsTer16)
c.165_166insGG (p.Leu56GlyfsTer3)
c.159+3_159+4insGG (n.159+3_159+4insGG)
c.186_187insGG (p.Leu63GlyfsTer3)
c.96_97insGG (p.Leu33GlyfsTer3)
c.147_148insGG (p.Leu50GlyfsTer3)
n.309_310insGG
c.162_163insGG (p.Leu55GlyfsTer3)
 dbSNP gnomAD v3 gnomAD v4
15g.34342002A>CCA391621989NOP10c.103T>G (p.Cys35Gly)
c.164T>G (p.Val55Gly)
c.159+2T>G (n.159+2T>G)
c.185T>G (p.Val62Gly)
c.95T>G (p.Val32Gly)
c.146T>G (p.Val49Gly)
n.308T>G
c.161T>G (p.Val54Gly)
 ClinVar dbSNP gnomAD v4
15g.34342002A>GCA391621987NOP10c.103T>C (p.Cys35Arg)
c.164T>C (p.Val55Ala)
c.159+2T>C (n.159+2T>C)
c.185T>C (p.Val62Ala)
c.95T>C (p.Val32Ala)
c.146T>C (p.Val49Ala)
n.308T>C
c.161T>C (p.Val54Ala)
15g.34342002A>TCA391621988NOP10c.103T>A (p.Cys35Ser)
c.164T>A (p.Val55Glu)
c.159+2T>A (n.159+2T>A)
c.185T>A (p.Val62Glu)
c.95T>A (p.Val32Glu)
c.146T>A (p.Val49Glu)
n.308T>A
c.161T>A (p.Val54Glu)
15g.34342003C>ACA391621990NOP10c.102G>T (p.Arg34Ser)
c.163G>T (p.Val55Leu)
c.159+1G>T (n.159+1G>T)
c.184G>T (p.Val62Leu)
c.94G>T (p.Val32Leu)
c.145G>T (p.Val49Leu)
n.307G>T
c.160G>T (p.Val54Leu)
 gnomAD v4
15g.34342003C>GCA391621991NOP10c.102G>C (p.Arg34Ser)
c.163G>C (p.Val55Leu)
c.159+1G>C (n.159+1G>C)
c.184G>C (p.Val62Leu)
c.94G>C (p.Val32Leu)
c.145G>C (p.Val49Leu)
n.307G>C
c.160G>C (p.Val54Leu)
15g.34342003C>TCA391621992NOP10c.102G>A (p.Arg34=)
c.163G>A (p.Val55Met)
c.159+1G>A (n.159+1G>A)
c.184G>A (p.Val62Met)
c.94G>A (p.Val32Met)
c.145G>A (p.Val49Met)
n.307G>A
c.160G>A (p.Val54Met)
 gnomAD v4
15g.34342004C>ACA391621993NOP10c.101G>T (p.Arg34Met)
c.162G>T (p.Lys54Asn)
c.159G>T (p.Lys53Asn)
c.183G>T (p.Lys61Asn)
c.93G>T (p.Lys31Asn)
c.144G>T (p.Lys48Asn)
n.306G>T
15g.34342004C>GCA391621994NOP10c.101G>C (p.Arg34Thr)
c.162G>C (p.Lys54Asn)
c.159G>C (p.Lys53Asn)
c.183G>C (p.Lys61Asn)
c.93G>C (p.Lys31Asn)
c.144G>C (p.Lys48Asn)
n.306G>C
15g.34342004C>TCA391621995NOP10c.101G>A (p.Arg34Lys)
c.162G>A (p.Lys54=)
c.159G>A (p.Lys53=)
c.183G>A (p.Lys61=)
c.93G>A (p.Lys31=)
c.144G>A (p.Lys48=)
n.306G>A
15g.34342009_34342020delCA617188371NOP10c.90_101del (p.Asn31_Arg34del)
c.151_162del (p.Lys51_Lys54del)
c.148_159del (p.Lys50_Lys53del)
c.172_183del (p.Lys58_Lys61del)
c.82_93del (p.Lys28_Lys31del)
c.133_144del (p.Lys45_Lys48del)
n.295_306del
 dbSNP gnomAD v2 gnomAD v4
15g.34342005T>ACA391621996NOP10c.100A>T (p.Arg34Trp)
c.161A>T (p.Lys54Met)
c.158A>T (p.Lys53Met)
c.182A>T (p.Lys61Met)
c.92A>T (p.Lys31Met)
c.143A>T (p.Lys48Met)
n.305A>T
15g.34342005T>CCA7464765NOP10c.100A>G (p.Arg34Gly)
c.161A>G (p.Lys54Arg)
c.158A>G (p.Lys53Arg)
c.182A>G (p.Lys61Arg)
c.92A>G (p.Lys31Arg)
c.143A>G (p.Lys48Arg)
n.305A>G
 dbSNP ExAC gnomAD v2
15g.34342005T>GCA391621997NOP10c.100A>C (p.Arg34=)
c.161A>C (p.Lys54Thr)
c.158A>C (p.Lys53Thr)
c.182A>C (p.Lys61Thr)
c.92A>C (p.Lys31Thr)
c.143A>C (p.Lys48Thr)
n.305A>C
15g.34342006T>ACA391621998NOP10c.99A>T (p.Ser33=)
c.160A>T (p.Lys54Ter)
c.157A>T (p.Lys53Ter)
c.181A>T (p.Lys61Ter)
c.91A>T (p.Lys31Ter)
c.142A>T (p.Lys48Ter)
n.304A>T
15g.34342006T>CCA391621999NOP10c.99A>G (p.Ser33=)
c.160A>G (p.Lys54Glu)
c.157A>G (p.Lys53Glu)
c.181A>G (p.Lys61Glu)
c.91A>G (p.Lys31Glu)
c.142A>G (p.Lys48Glu)
n.304A>G
 COSMIC
15g.34342006T>GCA391622000NOP10c.99A>C (p.Ser33=)
c.160A>C (p.Lys54Gln)
c.157A>C (p.Lys53Gln)
c.181A>C (p.Lys61Gln)
c.91A>C (p.Lys31Gln)
c.142A>C (p.Lys48Gln)
n.304A>C
15g.34342007G>ACA391622002NOP10c.98C>T (p.Ser33Leu)
c.159C>T (p.Phe53=)
c.156C>T (p.Phe52=)
c.180C>T (p.Phe60=)
c.90C>T (p.Phe30=)
c.141C>T (p.Phe47=)
n.303C>T
 COSMIC
15g.34342007G>CCA391622003NOP10c.98C>G (p.Ser33Ter)
c.159C>G (p.Phe53Leu)
c.156C>G (p.Phe52Leu)
c.180C>G (p.Phe60Leu)
c.90C>G (p.Phe30Leu)
c.141C>G (p.Phe47Leu)
n.303C>G
 ClinVar dbSNP
15g.34342007G>TCA391622001NOP10c.98C>A (p.Ser33Ter)
c.159C>A (p.Phe53Leu)
c.156C>A (p.Phe52Leu)
c.180C>A (p.Phe60Leu)
c.90C>A (p.Phe30Leu)
c.141C>A (p.Phe47Leu)
n.303C>A
15g.34342008A>CCA391622005NOP10c.97T>G (p.Ser33Ala)
c.158T>G (p.Phe53Cys)
c.155T>G (p.Phe52Cys)
c.179T>G (p.Phe60Cys)
c.89T>G (p.Phe30Cys)
c.140T>G (p.Phe47Cys)
n.302T>G
 gnomAD v4
15g.34342008A>GCA391622004NOP10c.97T>C (p.Ser33Pro)
c.158T>C (p.Phe53Ser)
c.155T>C (p.Phe52Ser)
c.179T>C (p.Phe60Ser)
c.89T>C (p.Phe30Ser)
c.140T>C (p.Phe47Ser)
n.302T>C
15g.34342008A>TCA391622006NOP10c.97T>A (p.Ser33Thr)
c.158T>A (p.Phe53Tyr)
c.155T>A (p.Phe52Tyr)
c.179T>A (p.Phe60Tyr)
c.89T>A (p.Phe30Tyr)
c.140T>A (p.Phe47Tyr)
n.302T>A
15g.34342009A>CCA391622007NOP10c.96T>G (p.Ala32=)
c.157T>G (p.Phe53Val)
c.154T>G (p.Phe52Val)
c.178T>G (p.Phe60Val)
c.88T>G (p.Phe30Val)
c.139T>G (p.Phe47Val)
n.301T>G
15g.34342009A>GCA7464766NOP10c.96T>C (p.Ala32=)
c.157T>C (p.Phe53Leu)
c.154T>C (p.Phe52Leu)
c.178T>C (p.Phe60Leu)
c.88T>C (p.Phe30Leu)
c.139T>C (p.Phe47Leu)
n.301T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342009A>TCA391622008NOP10c.96T>A (p.Ala32=)
c.157T>A (p.Phe53Ile)
c.154T>A (p.Phe52Ile)
c.178T>A (p.Phe60Ile)
c.88T>A (p.Phe30Ile)
c.139T>A (p.Phe47Ile)
n.301T>A
15g.34342010G>ACA391622009NOP10c.95C>T (p.Ala32Val)
c.156C>T (p.Arg52=)
c.153C>T (p.Arg51=)
c.177C>T (p.Arg59=)
c.87C>T (p.Arg29=)
c.138C>T (p.Arg46=)
n.300C>T
15g.34342010G>CCA391622010NOP10c.95C>G (p.Ala32Gly)
c.156C>G (p.Arg52=)
c.153C>G (p.Arg51=)
c.177C>G (p.Arg59=)
c.87C>G (p.Arg29=)
c.138C>G (p.Arg46=)
n.300C>G
15g.34342010G>TCA391622011NOP10c.95C>A (p.Ala32Asp)
c.156C>A (p.Arg52=)
c.153C>A (p.Arg51=)
c.177C>A (p.Arg59=)
c.87C>A (p.Arg29=)
c.138C>A (p.Arg46=)
n.300C>A
 COSMIC
15g.34342011C>ACA391622012NOP10c.94G>T (p.Ala32Ser)
c.155G>T (p.Arg52Leu)
c.152G>T (p.Arg51Leu)
c.176G>T (p.Arg59Leu)
c.86G>T (p.Arg29Leu)
c.137G>T (p.Arg46Leu)
n.299G>T
 gnomAD v4
15g.34342011C>GCA391622013NOP10c.94G>C (p.Ala32Pro)
c.155G>C (p.Arg52Pro)
c.152G>C (p.Arg51Pro)
c.176G>C (p.Arg59Pro)
c.86G>C (p.Arg29Pro)
c.137G>C (p.Arg46Pro)
n.299G>C
 COSMIC
15g.34342011C>TCA7464767NOP10c.94G>A (p.Ala32Thr)
c.155G>A (p.Arg52His)
c.152G>A (p.Arg51His)
c.176G>A (p.Arg59His)
c.86G>A (p.Arg29His)
c.137G>A (p.Arg46His)
n.299G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342012G>ACA7464768NOP10c.93C>T (p.Asn31=)
c.154C>T (p.Arg52Cys)
c.151C>T (p.Arg51Cys)
c.175C>T (p.Arg59Cys)
c.85C>T (p.Arg29Cys)
c.136C>T (p.Arg46Cys)
n.298C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342012G>CCA391622014NOP10c.93C>G (p.Asn31Lys)
c.154C>G (p.Arg52Gly)
c.151C>G (p.Arg51Gly)
c.175C>G (p.Arg59Gly)
c.85C>G (p.Arg29Gly)
c.136C>G (p.Arg46Gly)
n.298C>G
15g.34342012G>TCA391622015NOP10c.93C>A (p.Asn31Lys)
c.154C>A (p.Arg52Ser)
c.151C>A (p.Arg51Ser)
c.175C>A (p.Arg59Ser)
c.85C>A (p.Arg29Ser)
c.136C>A (p.Arg46Ser)
n.298C>A
15g.34342013T>ACA391622017NOP10c.92A>T (p.Asn31Ile)
c.153A>T (p.Lys51Asn)
c.150A>T (p.Lys50Asn)
c.174A>T (p.Lys58Asn)
c.84A>T (p.Lys28Asn)
c.135A>T (p.Lys45Asn)
n.297A>T
15g.34342013T>CCA7464769NOP10c.92A>G (p.Asn31Ser)
c.153A>G (p.Lys51=)
c.150A>G (p.Lys50=)
c.174A>G (p.Lys58=)
c.84A>G (p.Lys28=)
c.135A>G (p.Lys45=)
n.297A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342013T>GCA391622016NOP10c.92A>C (p.Asn31Thr)
c.153A>C (p.Lys51Asn)
c.150A>C (p.Lys50Asn)
c.174A>C (p.Lys58Asn)
c.84A>C (p.Lys28Asn)
c.135A>C (p.Lys45Asn)
n.297A>C
15g.34342014T>ACA391622018NOP10c.91A>T (p.Asn31Tyr)
c.152A>T (p.Lys51Ile)
c.149A>T (p.Lys50Ile)
c.173A>T (p.Lys58Ile)
c.83A>T (p.Lys28Ile)
c.134A>T (p.Lys45Ile)
n.296A>T
15g.34342014T>CCA391622019NOP10c.91A>G (p.Asn31Asp)
c.152A>G (p.Lys51Arg)
c.149A>G (p.Lys50Arg)
c.173A>G (p.Lys58Arg)
c.83A>G (p.Lys28Arg)
c.134A>G (p.Lys45Arg)
n.296A>G
15g.34342014T>GCA391622020NOP10c.91A>C (p.Asn31His)
c.152A>C (p.Lys51Thr)
c.149A>C (p.Lys50Thr)
c.173A>C (p.Lys58Thr)
c.83A>C (p.Lys28Thr)
c.134A>C (p.Lys45Thr)
n.296A>C
15g.34342015T>ACA391622021NOP10c.90A>T (p.Arg30Ser)
c.151A>T (p.Lys51Ter)
c.148A>T (p.Lys50Ter)
c.172A>T (p.Lys58Ter)
c.82A>T (p.Lys28Ter)
c.133A>T (p.Lys45Ter)
n.295A>T
15g.34342015T>CCA391622022NOP10c.90A>G (p.Arg30=)
c.151A>G (p.Lys51Glu)
c.148A>G (p.Lys50Glu)
c.172A>G (p.Lys58Glu)
c.82A>G (p.Lys28Glu)
c.133A>G (p.Lys45Glu)
n.295A>G
15g.34342015T>GCA391622023NOP10c.90A>C (p.Arg30Ser)
c.151A>C (p.Lys51Gln)
c.148A>C (p.Lys50Gln)
c.172A>C (p.Lys58Gln)
c.82A>C (p.Lys28Gln)
c.133A>C (p.Lys45Gln)
n.295A>C
15g.34342016C>ACA391622024NOP10c.89G>T (p.Arg30Ile)
c.150G>T (p.Lys50Asn)
c.147G>T (p.Lys49Asn)
c.171G>T (p.Lys57Asn)
c.81G>T (p.Lys27Asn)
c.132G>T (p.Lys44Asn)
n.294G>T
15g.34342016C>GCA391622025NOP10c.89G>C (p.Arg30Thr)
c.150G>C (p.Lys50Asn)
c.147G>C (p.Lys49Asn)
c.171G>C (p.Lys57Asn)
c.81G>C (p.Lys27Asn)
c.132G>C (p.Lys44Asn)
n.294G>C
15g.34342016C>TCA391622026NOP10c.89G>A (p.Arg30Lys)
c.150G>A (p.Lys50=)
c.147G>A (p.Lys49=)
c.171G>A (p.Lys57=)
c.81G>A (p.Lys27=)
c.132G>A (p.Lys44=)
n.294G>A
15g.34342017T>ACA391622027NOP10c.88A>T (p.Arg30Ter)
c.149A>T (p.Lys50Met)
c.146A>T (p.Lys49Met)
c.170A>T (p.Lys57Met)
c.80A>T (p.Lys27Met)
c.131A>T (p.Lys44Met)
n.293A>T
15g.34342017T>CCA391622028NOP10c.88A>G (p.Arg30Gly)
c.149A>G (p.Lys50Arg)
c.146A>G (p.Lys49Arg)
c.170A>G (p.Lys57Arg)
c.80A>G (p.Lys27Arg)
c.131A>G (p.Lys44Arg)
n.293A>G
 gnomAD v4
15g.34342017T>GCA391622029NOP10c.88A>C (p.Arg30=)
c.149A>C (p.Lys50Thr)
c.146A>C (p.Lys49Thr)
c.170A>C (p.Lys57Thr)
c.80A>C (p.Lys27Thr)
c.131A>C (p.Lys44Thr)
n.293A>C
15g.34342018T>ACA391622032NOP10c.87A>T (p.Ser29=)
c.148A>T (p.Lys50Ter)
c.145A>T (p.Lys49Ter)
c.169A>T (p.Lys57Ter)
c.79A>T (p.Lys27Ter)
c.130A>T (p.Lys44Ter)
n.292A>T
15g.34342018T>CCA391622031NOP10c.87A>G (p.Ser29=)
c.148A>G (p.Lys50Glu)
c.145A>G (p.Lys49Glu)
c.169A>G (p.Lys57Glu)
c.79A>G (p.Lys27Glu)
c.130A>G (p.Lys44Glu)
n.292A>G
15g.34342018T>GCA391622030NOP10c.87A>C (p.Ser29=)
c.148A>C (p.Lys50Gln)
c.145A>C (p.Lys49Gln)
c.169A>C (p.Lys57Gln)
c.79A>C (p.Lys27Gln)
c.130A>C (p.Lys44Gln)
n.292A>C
15g.34342019G>ACA391622033NOP10c.86C>T (p.Ser29Leu)
c.147C>T (p.Ile49=)
c.144C>T (p.Ile48=)
c.168C>T (p.Ile56=)
c.78C>T (p.Ile26=)
c.129C>T (p.Ile43=)
n.291C>T
15g.34342019G>CCA391622034NOP10c.86C>G (p.Ser29Ter)
c.147C>G (p.Ile49Met)
c.144C>G (p.Ile48Met)
c.168C>G (p.Ile56Met)
c.78C>G (p.Ile26Met)
c.129C>G (p.Ile43Met)
n.291C>G
15g.34342019G>TCA391622035NOP10c.86C>A (p.Ser29Ter)
c.147C>A (p.Ile49=)
c.144C>A (p.Ile48=)
c.168C>A (p.Ile56=)
c.78C>A (p.Ile26=)
c.129C>A (p.Ile43=)
n.291C>A
15g.34342020A>CCA391622036NOP10c.85T>G (p.Ser29Ala)
c.146T>G (p.Ile49Ser)
c.143T>G (p.Ile48Ser)
c.167T>G (p.Ile56Ser)
c.77T>G (p.Ile26Ser)
c.128T>G (p.Ile43Ser)
n.290T>G
15g.34342020A>GCA391622037NOP10c.85T>C (p.Ser29Pro)
c.146T>C (p.Ile49Thr)
c.143T>C (p.Ile48Thr)
c.167T>C (p.Ile56Thr)
c.77T>C (p.Ile26Thr)
c.128T>C (p.Ile43Thr)
n.290T>C
15g.34342020A>TCA391622038NOP10c.85T>A (p.Ser29Thr)
c.146T>A (p.Ile49Asn)
c.143T>A (p.Ile48Asn)
c.167T>A (p.Ile56Asn)
c.77T>A (p.Ile26Asn)
c.128T>A (p.Ile43Asn)
n.290T>A
15g.34342021T>ACA391622039NOP10c.84A>T (p.Pro28=)
c.145A>T (p.Ile49Phe)
c.142A>T (p.Ile48Phe)
c.166A>T (p.Ile56Phe)
c.76A>T (p.Ile26Phe)
c.127A>T (p.Ile43Phe)
n.289A>T
15g.34342021T>CCA391622040NOP10c.84A>G (p.Pro28=)
c.145A>G (p.Ile49Val)
c.142A>G (p.Ile48Val)
c.166A>G (p.Ile56Val)
c.76A>G (p.Ile26Val)
c.127A>G (p.Ile43Val)
n.289A>G
 gnomAD v4
15g.34342021T>GCA391622041NOP10c.84A>C (p.Pro28=)
c.145A>C (p.Ile49Leu)
c.142A>C (p.Ile48Leu)
c.166A>C (p.Ile56Leu)
c.76A>C (p.Ile26Leu)
c.127A>C (p.Ile43Leu)
n.289A>C
15g.34342022G>ACA391622042NOP10c.83C>T (p.Pro28Leu)
c.144C>T (p.Thr48=)
c.141C>T (p.Thr47=)
c.165C>T (p.Thr55=)
c.75C>T (p.Thr25=)
c.126C>T (p.Thr42=)
n.288C>T
15g.34342022G>CCA391622043NOP10c.83C>G (p.Pro28Arg)
c.144C>G (p.Thr48=)
c.141C>G (p.Thr47=)
c.165C>G (p.Thr55=)
c.75C>G (p.Thr25=)
c.126C>G (p.Thr42=)
n.288C>G
15g.34342022G>TCA391622044NOP10c.83C>A (p.Pro28Gln)
c.144C>A (p.Thr48=)
c.141C>A (p.Thr47=)
c.165C>A (p.Thr55=)
c.75C>A (p.Thr25=)
c.126C>A (p.Thr42=)
n.288C>A
15g.34342023dupCA2497388413NOP10c.83dup (p.Ser29IlefsTer18)
c.144dup (p.Ile49HisfsTer22)
c.141dup (p.Ile48HisfsTer10)
c.165dup (p.Ile56HisfsTer22)
c.75dup (p.Ile26HisfsTer22)
c.126dup (p.Ile43HisfsTer22)
c.141dup (p.Ile48HisfsTer16)
n.288dup
c.141dup (p.Ile48HisfsTer22)
 ClinVar dbSNP
15g.34342023G>ACA7464770NOP10c.82C>T (p.Pro28Ser)
c.143C>T (p.Thr48Ile)
c.140C>T (p.Thr47Ile)
c.164C>T (p.Thr55Ile)
c.74C>T (p.Thr25Ile)
c.125C>T (p.Thr42Ile)
n.287C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.34342023G>CCA391622046NOP10c.82C>G (p.Pro28Ala)
c.143C>G (p.Thr48Ser)
c.140C>G (p.Thr47Ser)
c.164C>G (p.Thr55Ser)
c.74C>G (p.Thr25Ser)
c.125C>G (p.Thr42Ser)
n.287C>G
15g.34342023G>TCA391622045NOP10c.82C>A (p.Pro28Thr)
c.143C>A (p.Thr48Asn)
c.140C>A (p.Thr47Asn)
c.164C>A (p.Thr55Asn)
c.74C>A (p.Thr25Asn)
c.125C>A (p.Thr42Asn)
n.287C>A
 gnomAD v4
15g.34342024T>ACA391622047NOP10c.81A>T (p.Ser27=)
c.142A>T (p.Thr48Ser)
c.139A>T (p.Thr47Ser)
c.163A>T (p.Thr55Ser)
c.73A>T (p.Thr25Ser)
c.124A>T (p.Thr42Ser)
n.286A>T
15g.34342024T>CCA391622048NOP10c.81A>G (p.Ser27=)
c.142A>G (p.Thr48Ala)
c.139A>G (p.Thr47Ala)
c.163A>G (p.Thr55Ala)
c.73A>G (p.Thr25Ala)
c.124A>G (p.Thr42Ala)
n.286A>G
15g.34342024T>GCA391622049NOP10c.81A>C (p.Ser27=)
c.142A>C (p.Thr48Pro)
c.139A>C (p.Thr47Pro)
c.163A>C (p.Thr55Pro)
c.73A>C (p.Thr25Pro)
c.124A>C (p.Thr42Pro)
n.286A>C
15g.34342025G>ACA391622050NOP10c.80C>T (p.Ser27Leu)
c.141C>T (p.Ile47=)
c.138C>T (p.Ile46=)
c.162C>T (p.Ile54=)
c.72C>T (p.Ile24=)
c.123C>T (p.Ile41=)
n.285C>T
 dbSNP gnomAD v4
15g.34342025G>CCA391622051NOP10c.80C>G (p.Ser27Ter)
c.141C>G (p.Ile47Met)
c.138C>G (p.Ile46Met)
c.162C>G (p.Ile54Met)
c.72C>G (p.Ile24Met)
c.123C>G (p.Ile41Met)
n.285C>G
15g.34342025G>TCA391622052NOP10c.80C>A (p.Ser27Ter)
c.141C>A (p.Ile47=)
c.138C>A (p.Ile46=)
c.162C>A (p.Ile54=)
c.72C>A (p.Ile24=)
c.123C>A (p.Ile41=)
n.285C>A
15g.34342026A>CCA391622053NOP10c.79T>G (p.Ser27Ala)
c.140T>G (p.Ile47Ser)
c.137T>G (p.Ile46Ser)
c.161T>G (p.Ile54Ser)
c.71T>G (p.Ile24Ser)
c.122T>G (p.Ile41Ser)
n.284T>G
15g.34342026A>GCA391622054NOP10c.79T>C (p.Ser27Pro)
c.140T>C (p.Ile47Thr)
c.137T>C (p.Ile46Thr)
c.161T>C (p.Ile54Thr)
c.71T>C (p.Ile24Thr)
c.122T>C (p.Ile41Thr)
n.284T>C
15g.34342026A>TCA391622055NOP10c.79T>A (p.Ser27Thr)
c.140T>A (p.Ile47Asn)
c.137T>A (p.Ile46Asn)
c.161T>A (p.Ile54Asn)
c.71T>A (p.Ile24Asn)
c.122T>A (p.Ile41Asn)
n.284T>A
15g.34342027T>ACA391622056NOP10c.78A>T (p.Glu26Asp)
c.139A>T (p.Ile47Phe)
c.136A>T (p.Ile46Phe)
c.160A>T (p.Ile54Phe)
c.70A>T (p.Ile24Phe)
c.121A>T (p.Ile41Phe)
n.283A>T
15g.34342027T>CCA391622057NOP10c.78A>G (p.Glu26=)
c.139A>G (p.Ile47Val)
c.136A>G (p.Ile46Val)
c.160A>G (p.Ile54Val)
c.70A>G (p.Ile24Val)
c.121A>G (p.Ile41Val)
n.283A>G
 gnomAD v4
15g.34342027T>GCA391622058NOP10c.78A>C (p.Glu26Asp)
c.139A>C (p.Ile47Leu)
c.136A>C (p.Ile46Leu)
c.160A>C (p.Ile54Leu)
c.70A>C (p.Ile24Leu)
c.121A>C (p.Ile41Leu)
n.283A>C
15g.34342028T>ACA391622061NOP10c.77A>T (p.Glu26Val)
c.138A>T (p.Arg46=)
c.135A>T (p.Arg45=)
c.159A>T (p.Arg53=)
c.69A>T (p.Arg23=)
c.120A>T (p.Arg40=)
n.282A>T
15g.34342028T>CCA391622060NOP10c.77A>G (p.Glu26Gly)
c.138A>G (p.Arg46=)
c.135A>G (p.Arg45=)
c.159A>G (p.Arg53=)
c.69A>G (p.Arg23=)
c.120A>G (p.Arg40=)
n.282A>G
15g.34342028T>GCA391622059NOP10c.77A>C (p.Glu26Ala)
c.138A>C (p.Arg46=)
c.135A>C (p.Arg45=)
c.159A>C (p.Arg53=)
c.69A>C (p.Arg23=)
c.120A>C (p.Arg40=)
n.282A>C
15g.34342028_34342029delCA2575669048NOP10c.76_77del (p.Glu26IlefsTer20)
c.137_138del (p.Arg46HisfsTer24)
c.134_135del (p.Arg45HisfsTer12)
c.158_159del (p.Arg53HisfsTer24)
c.68_69del (p.Arg23HisfsTer24)
c.119_120del (p.Arg40HisfsTer24)
c.134_135del (p.Arg45HisfsTer18)
n.281_282del
c.134_135del (p.Arg45HisfsTer24)
 gnomAD v4
15g.34342028_34342041delinsGGTGCA915946500NOP10c.64_77delinsCACC (p.Thr22HisfsTer25)
c.125_138delinsCACC (p.Tyr42SerfsTer13)
c.122_135delinsCACC (p.Tyr41SerfsTer17)
c.146_159delinsCACC (p.Tyr49SerfsTer13)
c.56_69delinsCACC (p.Tyr19SerfsTer13)
c.107_120delinsCACC (p.Tyr36SerfsTer13)
c.122_135delinsCACC (p.Tyr41SerfsTer?)
n.269_282delinsCACC
c.122_135delinsCACC (p.Tyr41SerfsTer13)
 ClinVar dbSNP
15g.34342029C>ACA268645325NOP10c.76G>T (p.Glu26Ter)
c.137G>T (p.Arg46Leu)
c.134G>T (p.Arg45Leu)
c.158G>T (p.Arg53Leu)
c.68G>T (p.Arg23Leu)
c.119G>T (p.Arg40Leu)
n.281G>T
 dbSNP
15g.34342029C>GCA391622062NOP10c.76G>C (p.Glu26Gln)
c.137G>C (p.Arg46Pro)
c.134G>C (p.Arg45Pro)
c.158G>C (p.Arg53Pro)
c.68G>C (p.Arg23Pro)
c.119G>C (p.Arg40Pro)
n.281G>C
15g.34342029C>TCA7464771NOP10c.76G>A (p.Glu26Lys)
c.137G>A (p.Arg46Gln)
c.134G>A (p.Arg45Gln)
c.158G>A (p.Arg53Gln)
c.68G>A (p.Arg23Gln)
c.119G>A (p.Arg40Gln)
n.281G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.34342030G>ACA391622063NOP10c.75C>T (p.Thr25=)
c.136C>T (p.Arg46Ter)
c.133C>T (p.Arg45Ter)
c.157C>T (p.Arg53Ter)
c.67C>T (p.Arg23Ter)
c.118C>T (p.Arg40Ter)
n.280C>T
 dbSNP gnomAD v4
15g.34342030G>CCA391622064NOP10c.75C>G (p.Thr25=)
c.136C>G (p.Arg46Gly)
c.133C>G (p.Arg45Gly)
c.157C>G (p.Arg53Gly)
c.67C>G (p.Arg23Gly)
c.118C>G (p.Arg40Gly)
n.280C>G
15g.34342030G>TCA489410008NOP10c.75C>A (p.Thr25=)
c.136C>A (p.Arg46=)
c.133C>A (p.Arg45=)
c.157C>A (p.Arg53=)
c.67C>A (p.Arg23=)
c.118C>A (p.Arg40=)
n.280C>A
15g.34342031G>ACA391622065NOP10c.74C>T (p.Thr25Ile)
c.135C>T (p.His45=)
c.132C>T (p.His44=)
c.156C>T (p.His52=)
c.66C>T (p.His22=)
c.117C>T (p.His39=)
n.279C>T
15g.34342031G>CCA391622066NOP10c.74C>G (p.Thr25Ser)
c.135C>G (p.His45Gln)
c.132C>G (p.His44Gln)
c.156C>G (p.His52Gln)
c.66C>G (p.His22Gln)
c.117C>G (p.His39Gln)
n.279C>G
15g.34342031G>TCA391622067NOP10c.74C>A (p.Thr25Asn)
c.135C>A (p.His45Gln)
c.132C>A (p.His44Gln)
c.156C>A (p.His52Gln)
c.66C>A (p.His22Gln)
c.117C>A (p.His39Gln)
n.279C>A
15g.34342032T>ACA391622068NOP10c.73A>T (p.Thr25Ser)
c.134A>T (p.His45Leu)
c.131A>T (p.His44Leu)
c.155A>T (p.His52Leu)
c.65A>T (p.His22Leu)
c.116A>T (p.His39Leu)
n.278A>T
15g.34342032T>CCA391622069NOP10c.73A>G (p.Thr25Ala)
c.134A>G (p.His45Arg)
c.131A>G (p.His44Arg)
c.155A>G (p.His52Arg)
c.65A>G (p.His22Arg)
c.116A>G (p.His39Arg)
n.278A>G
15g.34342032T>GCA391622070NOP10c.73A>C (p.Thr25Pro)
c.134A>C (p.His45Pro)
c.131A>C (p.His44Pro)
c.155A>C (p.His52Pro)
c.65A>C (p.His22Pro)
c.116A>C (p.His39Pro)
n.278A>C
15g.34342033G>ACA391622071NOP10c.72C>T (p.Asp24=)
c.133C>T (p.His45Tyr)
c.130C>T (p.His44Tyr)
c.154C>T (p.His52Tyr)
c.64C>T (p.His22Tyr)
c.115C>T (p.His39Tyr)
n.277C>T
15g.34342033G>CCA391622072NOP10c.72C>G (p.Asp24Glu)
c.133C>G (p.His45Asp)
c.130C>G (p.His44Asp)
c.154C>G (p.His52Asp)
c.64C>G (p.His22Asp)
c.115C>G (p.His39Asp)
n.277C>G
15g.34342033G>TCA391622073NOP10c.72C>A (p.Asp24Glu)
c.133C>A (p.His45Asn)
c.130C>A (p.His44Asn)
c.154C>A (p.His52Asn)
c.64C>A (p.His22Asn)
c.115C>A (p.His39Asn)
n.277C>A
15g.34342034T>ACA391622076NOP10c.71A>T (p.Asp24Val)
c.132A>T (p.Arg44=)
c.129A>T (p.Arg43=)
c.153A>T (p.Arg51=)
c.63A>T (p.Arg21=)
c.114A>T (p.Arg38=)
n.276A>T
15g.34342034T>CCA391622074NOP10c.71A>G (p.Asp24Gly)
c.132A>G (p.Arg44=)
c.129A>G (p.Arg43=)
c.153A>G (p.Arg51=)
c.63A>G (p.Arg21=)
c.114A>G (p.Arg38=)
n.276A>G
 dbSNP gnomAD v2 gnomAD v4
15g.34342034T>GCA391622075NOP10c.71A>C (p.Asp24Ala)
c.132A>C (p.Arg44=)
c.129A>C (p.Arg43=)
c.153A>C (p.Arg51=)
c.63A>C (p.Arg21=)
c.114A>C (p.Arg38=)
n.276A>C
15g.34342034_34342041delCA2575669049NOP10c.64_71del (p.Thr22HisfsTer22)
c.125_132del (p.Tyr42SerfsTer26)
c.122_129del (p.Tyr41SerfsTer14)
c.146_153del (p.Tyr49SerfsTer26)
c.56_63del (p.Tyr19SerfsTer26)
c.107_114del (p.Tyr36SerfsTer26)
c.122_129del (p.Tyr41SerfsTer20)
n.269_276del
c.122_129del (p.Tyr41SerfsTer26)
 gnomAD v4
15g.34342035C>ACA391622077NOP10c.70G>T (p.Asp24Tyr)
c.131G>T (p.Arg44Leu)
c.128G>T (p.Arg43Leu)
c.152G>T (p.Arg51Leu)
c.62G>T (p.Arg21Leu)
c.113G>T (p.Arg38Leu)
n.275G>T
 COSMIC
15g.34342035C>GCA391622078NOP10c.70G>C (p.Asp24His)
c.131G>C (p.Arg44Pro)
c.128G>C (p.Arg43Pro)
c.152G>C (p.Arg51Pro)
c.62G>C (p.Arg21Pro)
c.113G>C (p.Arg38Pro)
n.275G>C
15g.34342035C>TCA7464772NOP10c.70G>A (p.Asp24Asn)
c.131G>A (p.Arg44Gln)
c.128G>A (p.Arg43Gln)
c.152G>A (p.Arg51Gln)
c.62G>A (p.Arg21Gln)
c.113G>A (p.Arg38Gln)
n.275G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.34342036G>ACA391622079NOP10c.69C>T (p.Leu23=)
c.130C>T (p.Arg44Ter)
c.127C>T (p.Arg43Ter)
c.151C>T (p.Arg51Ter)
c.61C>T (p.Arg21Ter)
c.112C>T (p.Arg38Ter)
n.274C>T
 COSMIC
15g.34342036G>CCA391622080NOP10c.69C>G (p.Leu23=)
c.130C>G (p.Arg44Gly)
c.127C>G (p.Arg43Gly)
c.151C>G (p.Arg51Gly)
c.61C>G (p.Arg21Gly)
c.112C>G (p.Arg38Gly)
n.274C>G
 ClinVar dbSNP
15g.34342036G>TCA489410017NOP10c.69C>A (p.Leu23=)
c.130C>A (p.Arg44=)
c.127C>A (p.Arg43=)
c.151C>A (p.Arg51=)
c.61C>A (p.Arg21=)
c.112C>A (p.Arg38=)
n.274C>A
 gnomAD v4
15g.34342039_34342040delCA2575669050NOP10c.68_69del (p.Leu23ArgfsTer23)
c.129_130del (p.Arg44ThrfsTer26)
c.126_127del (p.Arg43ThrfsTer14)
c.150_151del (p.Arg51ThrfsTer26)
c.60_61del (p.Arg21ThrfsTer26)
c.111_112del (p.Arg38ThrfsTer26)
c.126_127del (p.Arg43ThrfsTer20)
n.273_274del
c.126_127del (p.Arg43ThrfsTer26)
 gnomAD v4
15g.34342037A>CCA391622081NOP10c.68T>G (p.Leu23Arg)
c.129T>G (p.Ser43=)
c.126T>G (p.Ser42=)
c.150T>G (p.Ser50=)
c.60T>G (p.Ser20=)
c.111T>G (p.Ser37=)
n.273T>G
15g.34342037A>GCA391622082NOP10c.68T>C (p.Leu23Pro)
c.129T>C (p.Ser43=)
c.126T>C (p.Ser42=)
c.150T>C (p.Ser50=)
c.60T>C (p.Ser20=)
c.111T>C (p.Ser37=)
n.273T>C
15g.34342037A>TCA391622083NOP10c.68T>A (p.Leu23His)
c.129T>A (p.Ser43=)
c.126T>A (p.Ser42=)
c.150T>A (p.Ser50=)
c.60T>A (p.Ser20=)
c.111T>A (p.Ser37=)
n.273T>A
15g.34342038G>ACA391622084NOP10c.67C>T (p.Leu23Phe)
c.128C>T (p.Ser43Phe)
c.125C>T (p.Ser42Phe)
c.149C>T (p.Ser50Phe)
c.59C>T (p.Ser20Phe)
c.110C>T (p.Ser37Phe)
n.272C>T
 dbSNP gnomAD v3 gnomAD v4
15g.34342038G>CCA391622085NOP10c.67C>G (p.Leu23Val)
c.128C>G (p.Ser43Cys)
c.125C>G (p.Ser42Cys)
c.149C>G (p.Ser50Cys)
c.59C>G (p.Ser20Cys)
c.110C>G (p.Ser37Cys)
n.272C>G
15g.34342038G>TCA391622086NOP10c.67C>A (p.Leu23Ile)
c.128C>A (p.Ser43Tyr)
c.125C>A (p.Ser42Tyr)
c.149C>A (p.Ser50Tyr)
c.59C>A (p.Ser20Tyr)
c.110C>A (p.Ser37Tyr)
n.272C>A
15g.34342039A>CCA391622088NOP10c.66T>G (p.Thr22=)
c.127T>G (p.Ser43Ala)
c.124T>G (p.Ser42Ala)
c.148T>G (p.Ser50Ala)
c.58T>G (p.Ser20Ala)
c.109T>G (p.Ser37Ala)
n.271T>G
15g.34342039A>GCA391622089NOP10c.66T>C (p.Thr22=)
c.127T>C (p.Ser43Pro)
c.124T>C (p.Ser42Pro)
c.148T>C (p.Ser50Pro)
c.58T>C (p.Ser20Pro)
c.109T>C (p.Ser37Pro)
n.271T>C
15g.34342039A>TCA391622087NOP10c.66T>A (p.Thr22=)
c.127T>A (p.Ser43Thr)
c.124T>A (p.Ser42Thr)
c.148T>A (p.Ser50Thr)
c.58T>A (p.Ser20Thr)
c.109T>A (p.Ser37Thr)
n.271T>A
15g.34342040G>ACA391622090NOP10c.65C>T (p.Thr22Ile)
c.126C>T (p.Tyr42=)
c.123C>T (p.Tyr41=)
c.147C>T (p.Tyr49=)
c.57C>T (p.Tyr19=)
c.108C>T (p.Tyr36=)
n.270C>T
15g.34342040G>CCA391622091NOP10c.65C>G (p.Thr22Ser)
c.126C>G (p.Tyr42Ter)
c.123C>G (p.Tyr41Ter)
c.147C>G (p.Tyr49Ter)
c.57C>G (p.Tyr19Ter)
c.108C>G (p.Tyr36Ter)
n.270C>G
15g.34342040G>TCA391622092NOP10c.65C>A (p.Thr22Asn)
c.126C>A (p.Tyr42Ter)
c.123C>A (p.Tyr41Ter)
c.147C>A (p.Tyr49Ter)
c.57C>A (p.Tyr19Ter)
c.108C>A (p.Tyr36Ter)
n.270C>A
15g.34342041T>ACA391622093NOP10c.64A>T (p.Thr22Ser)
c.125A>T (p.Tyr42Phe)
c.122A>T (p.Tyr41Phe)
c.146A>T (p.Tyr49Phe)
c.56A>T (p.Tyr19Phe)
c.107A>T (p.Tyr36Phe)
n.269A>T
15g.34342041T>CCA7464773NOP10c.64A>G (p.Thr22Ala)
c.125A>G (p.Tyr42Cys)
c.122A>G (p.Tyr41Cys)
c.146A>G (p.Tyr49Cys)
c.56A>G (p.Tyr19Cys)
c.107A>G (p.Tyr36Cys)
n.269A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342041T>GCA391622094NOP10c.64A>C (p.Thr22Pro)
c.125A>C (p.Tyr42Ser)
c.122A>C (p.Tyr41Ser)
c.146A>C (p.Tyr49Ser)
c.56A>C (p.Tyr19Ser)
c.107A>C (p.Tyr36Ser)
n.269A>C
15g.34342042A>CCA391622095NOP10c.63T>G (p.Asn21Lys)
c.124T>G (p.Tyr42Asp)
c.121T>G (p.Tyr41Asp)
c.145T>G (p.Tyr49Asp)
c.55T>G (p.Tyr19Asp)
c.106T>G (p.Tyr36Asp)
n.268T>G
15g.34342042A>GCA391622096NOP10c.63T>C (p.Asn21=)
c.124T>C (p.Tyr42His)
c.121T>C (p.Tyr41His)
c.145T>C (p.Tyr49His)
c.55T>C (p.Tyr19His)
c.106T>C (p.Tyr36His)
n.268T>C
15g.34342042A>TCA391622097NOP10c.63T>A (p.Asn21Lys)
c.124T>A (p.Tyr42Asn)
c.121T>A (p.Tyr41Asn)
c.145T>A (p.Tyr49Asn)
c.55T>A (p.Tyr19Asn)
c.106T>A (p.Tyr36Asn)
n.268T>A
15g.34342043T>ACA391622098NOP10c.62A>T (p.Asn21Ile)
c.123A>T (p.Lys41Asn)
c.120A>T (p.Lys40Asn)
c.144A>T (p.Lys48Asn)
c.54A>T (p.Lys18Asn)
c.105A>T (p.Lys35Asn)
n.267A>T
15g.34342043T>CCA391622099NOP10c.62A>G (p.Asn21Ser)
c.123A>G (p.Lys41=)
c.120A>G (p.Lys40=)
c.144A>G (p.Lys48=)
c.54A>G (p.Lys18=)
c.105A>G (p.Lys35=)
n.267A>G
15g.34342043T>GCA391622100NOP10c.62A>C (p.Asn21Thr)
c.123A>C (p.Lys41Asn)
c.120A>C (p.Lys40Asn)
c.144A>C (p.Lys48Asn)
c.54A>C (p.Lys18Asn)
c.105A>C (p.Lys35Asn)
n.267A>C
15g.34342044T>ACA391622102NOP10c.61A>T (p.Asn21Tyr)
c.122A>T (p.Lys41Ile)
c.119A>T (p.Lys40Ile)
c.143A>T (p.Lys48Ile)
c.53A>T (p.Lys18Ile)
c.104A>T (p.Lys35Ile)
n.266A>T
15g.34342044T>CCA391622103NOP10c.61A>G (p.Asn21Asp)
c.122A>G (p.Lys41Arg)
c.119A>G (p.Lys40Arg)
c.143A>G (p.Lys48Arg)
c.53A>G (p.Lys18Arg)
c.104A>G (p.Lys35Arg)
n.266A>G
15g.34342044T>GCA391622101NOP10c.61A>C (p.Asn21His)
c.122A>C (p.Lys41Thr)
c.119A>C (p.Lys40Thr)
c.143A>C (p.Lys48Thr)
c.53A>C (p.Lys18Thr)
c.104A>C (p.Lys35Thr)
n.266A>C
15g.34342045T>ACA391622104NOP10c.60A>T (p.Thr20=)
c.121A>T (p.Lys41Ter)
c.118A>T (p.Lys40Ter)
c.142A>T (p.Lys48Ter)
c.52A>T (p.Lys18Ter)
c.103A>T (p.Lys35Ter)
n.265A>T
15g.34342045T>CCA391622105NOP10c.60A>G (p.Thr20=)
c.121A>G (p.Lys41Glu)
c.118A>G (p.Lys40Glu)
c.142A>G (p.Lys48Glu)
c.52A>G (p.Lys18Glu)
c.103A>G (p.Lys35Glu)
n.265A>G
15g.34342045T>GCA391622106NOP10c.60A>C (p.Thr20=)
c.121A>C (p.Lys41Gln)
c.118A>C (p.Lys40Gln)
c.142A>C (p.Lys48Gln)
c.52A>C (p.Lys18Gln)
c.103A>C (p.Lys35Gln)
n.265A>C
15g.34342046G>ACA391622107NOP10c.59C>T (p.Thr20Ile)
c.120C>T (p.Asp40=)
c.117C>T (p.Asp39=)
c.141C>T (p.Asp47=)
c.51C>T (p.Asp17=)
c.102C>T (p.Asp34=)
n.264C>T
15g.34342046G>CCA391622108NOP10c.59C>G (p.Thr20Arg)
c.120C>G (p.Asp40Glu)
c.117C>G (p.Asp39Glu)
c.141C>G (p.Asp47Glu)
c.51C>G (p.Asp17Glu)
c.102C>G (p.Asp34Glu)
n.264C>G
15g.34342046G>TCA391622109NOP10c.59C>A (p.Thr20Lys)
c.120C>A (p.Asp40Glu)
c.117C>A (p.Asp39Glu)
c.141C>A (p.Asp47Glu)
c.51C>A (p.Asp17Glu)
c.102C>A (p.Asp34Glu)
n.264C>A
15g.34342047T>ACA391622112NOP10c.58A>T (p.Thr20Ser)
c.119A>T (p.Asp40Val)
c.116A>T (p.Asp39Val)
c.140A>T (p.Asp47Val)
c.50A>T (p.Asp17Val)
c.101A>T (p.Asp34Val)
n.263A>T
15g.34342047T>CCA391622110NOP10c.58A>G (p.Thr20Ala)
c.119A>G (p.Asp40Gly)
c.116A>G (p.Asp39Gly)
c.140A>G (p.Asp47Gly)
c.50A>G (p.Asp17Gly)
c.101A>G (p.Asp34Gly)
n.263A>G
15g.34342047T>GCA391622111NOP10c.58A>C (p.Thr20Pro)
c.119A>C (p.Asp40Ala)
c.116A>C (p.Asp39Ala)
c.140A>C (p.Asp47Ala)
c.50A>C (p.Asp17Ala)
c.101A>C (p.Asp34Ala)
n.263A>C
15g.34342048C>ACA391622113NOP10c.57G>T (p.Met19Ile)
c.118G>T (p.Asp40Tyr)
c.115G>T (p.Asp39Tyr)
c.139G>T (p.Asp47Tyr)
c.49G>T (p.Asp17Tyr)
c.100G>T (p.Asp34Tyr)
n.262G>T
15g.34342048C>GCA391622114NOP10c.57G>C (p.Met19Ile)
c.118G>C (p.Asp40His)
c.115G>C (p.Asp39His)
c.139G>C (p.Asp47His)
c.49G>C (p.Asp17His)
c.100G>C (p.Asp34His)
n.262G>C
15g.34342048C>TCA7464774NOP10c.57G>A (p.Met19Ile)
c.118G>A (p.Asp40Asn)
c.115G>A (p.Asp39Asn)
c.139G>A (p.Asp47Asn)
c.49G>A (p.Asp17Asn)
c.100G>A (p.Asp34Asn)
n.262G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342049A>CCA391622115NOP10c.56T>G (p.Met19Arg)
c.117T>G (p.Asp39Glu)
c.114T>G (p.Asp38Glu)
c.138T>G (p.Asp46Glu)
c.48T>G (p.Asp16Glu)
c.99T>G (p.Asp33Glu)
n.261T>G
15g.34342049A>GCA391622116NOP10c.56T>C (p.Met19Thr)
c.117T>C (p.Asp39=)
c.114T>C (p.Asp38=)
c.138T>C (p.Asp46=)
c.48T>C (p.Asp16=)
c.99T>C (p.Asp33=)
n.261T>C
 gnomAD v4
15g.34342049A>TCA391622117NOP10c.56T>A (p.Met19Lys)
c.117T>A (p.Asp39Glu)
c.114T>A (p.Asp38Glu)
c.138T>A (p.Asp46Glu)
c.48T>A (p.Asp16Glu)
c.99T>A (p.Asp33Glu)
n.261T>A
15g.34342050T>ACA391622119NOP10c.55A>T (p.Met19Leu)
c.116A>T (p.Asp39Val)
c.113A>T (p.Asp38Val)
c.137A>T (p.Asp46Val)
c.47A>T (p.Asp16Val)
c.98A>T (p.Asp33Val)
n.260A>T
15g.34342050T>CCA391622120NOP10c.55A>G (p.Met19Val)
c.116A>G (p.Asp39Gly)
c.113A>G (p.Asp38Gly)
c.137A>G (p.Asp46Gly)
c.47A>G (p.Asp16Gly)
c.98A>G (p.Asp33Gly)
n.260A>G
15g.34342050T>GCA391622118NOP10c.55A>C (p.Met19Leu)
c.116A>C (p.Asp39Ala)
c.113A>C (p.Asp38Ala)
c.137A>C (p.Asp46Ala)
c.47A>C (p.Asp16Ala)
c.98A>C (p.Asp33Ala)
n.260A>C
15g.34342051C>ACA391622122NOP10c.55-1G>T (n.55-1G>T)
c.115G>T (p.Asp39Tyr)
c.112G>T (p.Asp38Tyr)
c.136G>T (p.Asp46Tyr)
c.46G>T (p.Asp16Tyr)
c.97G>T (p.Asp33Tyr)
n.260-1G>T
15g.34342051C>GCA391622121NOP10c.55-1G>C (n.55-1G>C)
c.115G>C (p.Asp39His)
c.112G>C (p.Asp38His)
c.136G>C (p.Asp46His)
c.46G>C (p.Asp16His)
c.97G>C (p.Asp33His)
n.260-1G>C
15g.34342051C>TCA268645345NOP10c.55-1G>A (n.55-1G>A)
c.115G>A (p.Asp39Asn)
c.112G>A (p.Asp38Asn)
c.136G>A (p.Asp46Asn)
c.46G>A (p.Asp16Asn)
c.97G>A (p.Asp33Asn)
n.260-1G>A
 dbSNP
15g.34342052T>ACA391622123NOP10c.55-2A>T (n.55-2A>T)
c.114A>T (p.Pro38=)
c.111A>T (p.Pro37=)
c.135A>T (p.Pro45=)
c.45A>T (p.Pro15=)
c.96A>T (p.Pro32=)
n.260-2A>T
15g.34342052T>CCA391622125NOP10c.55-2A>G (n.55-2A>G)
c.114A>G (p.Pro38=)
c.111A>G (p.Pro37=)
c.135A>G (p.Pro45=)
c.45A>G (p.Pro15=)
c.96A>G (p.Pro32=)
n.260-2A>G
15g.34342052T>GCA391622124NOP10c.55-2A>C (n.55-2A>C)
c.114A>C (p.Pro38=)
c.111A>C (p.Pro37=)
c.135A>C (p.Pro45=)
c.45A>C (p.Pro15=)
c.96A>C (p.Pro32=)
n.260-2A>C
15g.34342053G>ACA391622126NOP10c.55-3C>T (n.55-3C>T)
c.113C>T (p.Pro38Leu)
c.110C>T (p.Pro37Leu)
c.134C>T (p.Pro45Leu)
c.44C>T (p.Pro15Leu)
c.95C>T (p.Pro32Leu)
n.260-3C>T
 dbSNP
15g.34342053G>CCA391622127NOP10c.55-3C>G (n.55-3C>G)
c.113C>G (p.Pro38Arg)
c.110C>G (p.Pro37Arg)
c.134C>G (p.Pro45Arg)
c.44C>G (p.Pro15Arg)
c.95C>G (p.Pro32Arg)
n.260-3C>G
15g.34342053G>TCA391622128NOP10c.55-3C>A (n.55-3C>A)
c.113C>A (p.Pro38Gln)
c.110C>A (p.Pro37Gln)
c.134C>A (p.Pro45Gln)
c.44C>A (p.Pro15Gln)
c.95C>A (p.Pro32Gln)
n.260-3C>A
15g.34342054G>ACA391622129NOP10c.55-4C>T (n.55-4C>T)
c.112C>T (p.Pro38Ser)
c.109C>T (p.Pro37Ser)
c.133C>T (p.Pro45Ser)
c.43C>T (p.Pro15Ser)
c.94C>T (p.Pro32Ser)
n.260-4C>T
 COSMIC
15g.34342054G>CCA391622130NOP10c.55-4C>G (n.55-4C>G)
c.112C>G (p.Pro38Ala)
c.109C>G (p.Pro37Ala)
c.133C>G (p.Pro45Ala)
c.43C>G (p.Pro15Ala)
c.94C>G (p.Pro32Ala)
n.260-4C>G
 dbSNP
15g.34342054G>TCA391622131NOP10c.55-4C>A (n.55-4C>A)
c.112C>A (p.Pro38Thr)
c.109C>A (p.Pro37Thr)
c.133C>A (p.Pro45Thr)
c.43C>A (p.Pro15Thr)
c.94C>A (p.Pro32Thr)
n.260-4C>A
15g.34342055G>ACA489410039NOP10c.55-5C>T (n.55-5C>T)
c.111C>T (p.Ser37=)
c.108C>T (p.Ser36=)
c.132C>T (p.Ser44=)
c.42C>T (p.Ser14=)
c.93C>T (p.Ser31=)
n.260-5C>T
15g.34342055G>CCA489410038NOP10c.55-5C>G (n.55-5C>G)
c.111C>G (p.Ser37=)
c.108C>G (p.Ser36=)
c.132C>G (p.Ser44=)
c.42C>G (p.Ser14=)
c.93C>G (p.Ser31=)
n.260-5C>G
15g.34342055G>TCA489410040NOP10c.55-5C>A (n.55-5C>A)
c.111C>A (p.Ser37=)
c.108C>A (p.Ser36=)
c.132C>A (p.Ser44=)
c.42C>A (p.Ser14=)
c.93C>A (p.Ser31=)
n.260-5C>A
15g.34342056G>ACA391622132NOP10c.55-6C>T (n.55-6C>T)
c.110C>T (p.Ser37Phe)
c.107C>T (p.Ser36Phe)
c.131C>T (p.Ser44Phe)
c.41C>T (p.Ser14Phe)
c.92C>T (p.Ser31Phe)
n.260-6C>T
 gnomAD v4
15g.34342056G>CCA391622133NOP10c.55-6C>G (n.55-6C>G)
c.110C>G (p.Ser37Cys)
c.107C>G (p.Ser36Cys)
c.131C>G (p.Ser44Cys)
c.41C>G (p.Ser14Cys)
c.92C>G (p.Ser31Cys)
n.260-6C>G
15g.34342056G>TCA391622134NOP10c.55-6C>A (n.55-6C>A)
c.110C>A (p.Ser37Tyr)
c.107C>A (p.Ser36Tyr)
c.131C>A (p.Ser44Tyr)
c.41C>A (p.Ser14Tyr)
c.92C>A (p.Ser31Tyr)
n.260-6C>A
15g.34342057A>CCA391622135NOP10c.55-7T>G (n.55-7T>G)
c.109T>G (p.Ser37Ala)
c.106T>G (p.Ser36Ala)
c.130T>G (p.Ser44Ala)
c.40T>G (p.Ser14Ala)
c.91T>G (p.Ser31Ala)
n.260-7T>G
15g.34342057A>GCA391622136NOP10c.55-7T>C (n.55-7T>C)
c.109T>C (p.Ser37Pro)
c.106T>C (p.Ser36Pro)
c.130T>C (p.Ser44Pro)
c.40T>C (p.Ser14Pro)
c.91T>C (p.Ser31Pro)
n.260-7T>C
15g.34342057A>TCA391622137NOP10c.55-7T>A (n.55-7T>A)
c.109T>A (p.Ser37Thr)
c.106T>A (p.Ser36Thr)
c.130T>A (p.Ser44Thr)
c.40T>A (p.Ser14Thr)
c.91T>A (p.Ser31Thr)
n.260-7T>A
15g.34342058G>ACA489410044NOP10c.55-8C>T (n.55-8C>T)
c.108C>T (p.Phe36=)
c.105C>T (p.Phe35=)
c.129C>T (p.Phe43=)
c.39C>T (p.Phe13=)
c.90C>T (p.Phe30=)
n.260-8C>T
15g.34342058G>CCA391622138NOP10c.55-8C>G (n.55-8C>G)
c.108C>G (p.Phe36Leu)
c.105C>G (p.Phe35Leu)
c.129C>G (p.Phe43Leu)
c.39C>G (p.Phe13Leu)
c.90C>G (p.Phe30Leu)
n.260-8C>G
15g.34342058G>TCA391622139NOP10c.55-8C>A (n.55-8C>A)
c.108C>A (p.Phe36Leu)
c.105C>A (p.Phe35Leu)
c.129C>A (p.Phe43Leu)
c.39C>A (p.Phe13Leu)
c.90C>A (p.Phe30Leu)
n.260-8C>A
15g.34342059A>CCA391622140NOP10c.55-9T>G (n.55-9T>G)
c.107T>G (p.Phe36Cys)
c.104T>G (p.Phe35Cys)
c.128T>G (p.Phe43Cys)
c.38T>G (p.Phe13Cys)
c.89T>G (p.Phe30Cys)
n.260-9T>G
15g.34342059A>GCA391622141NOP10c.55-9T>C (n.55-9T>C)
c.107T>C (p.Phe36Ser)
c.104T>C (p.Phe35Ser)
c.128T>C (p.Phe43Ser)
c.38T>C (p.Phe13Ser)
c.89T>C (p.Phe30Ser)
n.260-9T>C
15g.34342059A>TCA391622142NOP10c.55-9T>A (n.55-9T>A)
c.107T>A (p.Phe36Tyr)
c.104T>A (p.Phe35Tyr)
c.128T>A (p.Phe43Tyr)
c.38T>A (p.Phe13Tyr)
c.89T>A (p.Phe30Tyr)
n.260-9T>A
15g.34342060A>CCA391622143NOP10c.55-10T>G (n.55-10T>G)
c.106T>G (p.Phe36Val)
c.103T>G (p.Phe35Val)
c.127T>G (p.Phe43Val)
c.37T>G (p.Phe13Val)
c.88T>G (p.Phe30Val)
n.260-10T>G
15g.34342060A>GCA391622144NOP10c.55-10T>C (n.55-10T>C)
c.106T>C (p.Phe36Leu)
c.103T>C (p.Phe35Leu)
c.127T>C (p.Phe43Leu)
c.37T>C (p.Phe13Leu)
c.88T>C (p.Phe30Leu)
n.260-10T>C
15g.34342060A>TCA391622145NOP10c.55-10T>A (n.55-10T>A)
c.106T>A (p.Phe36Ile)
c.103T>A (p.Phe35Ile)
c.127T>A (p.Phe43Ile)
c.37T>A (p.Phe13Ile)
c.88T>A (p.Phe30Ile)
n.260-10T>A
15g.34342061C>ACA489410048NOP10c.55-11G>T (n.55-11G>T)
c.105G>T (p.Arg35=)
c.102G>T (p.Arg34=)
c.126G>T (p.Arg42=)
c.36G>T (p.Arg12=)
c.87G>T (p.Arg29=)
n.260-11G>T
 dbSNP gnomAD v4
15g.34342061C>GCA489410049NOP10c.55-11G>C (n.55-11G>C)
c.105G>C (p.Arg35=)
c.102G>C (p.Arg34=)
c.126G>C (p.Arg42=)
c.36G>C (p.Arg12=)
c.87G>C (p.Arg29=)
n.260-11G>C
15g.34342061C>TCA7464775NOP10c.55-11G>A (n.55-11G>A)
c.105G>A (p.Arg35=)
c.102G>A (p.Arg34=)
c.126G>A (p.Arg42=)
c.36G>A (p.Arg12=)
c.87G>A (p.Arg29=)
n.260-11G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342062C>ACA391622146NOP10c.55-12G>T (n.55-12G>T)
c.104G>T (p.Arg35Leu)
c.101G>T (p.Arg34Leu)
c.125G>T (p.Arg42Leu)
c.35G>T (p.Arg12Leu)
c.86G>T (p.Arg29Leu)
n.260-12G>T
 gnomAD v4
15g.34342062C>GCA391622147NOP10c.55-12G>C (n.55-12G>C)
c.104G>C (p.Arg35Pro)
c.101G>C (p.Arg34Pro)
c.125G>C (p.Arg42Pro)
c.35G>C (p.Arg12Pro)
c.86G>C (p.Arg29Pro)
n.260-12G>C
15g.34342062C>TCA391622148NOP10c.55-12G>A (n.55-12G>A)
c.104G>A (p.Arg35Gln)
c.101G>A (p.Arg34Gln)
c.125G>A (p.Arg42Gln)
c.35G>A (p.Arg12Gln)
c.86G>A (p.Arg29Gln)
n.260-12G>A
 gnomAD v4
15g.34342063G>ACA020161NOP10c.55-13C>T (n.55-13C>T)
c.103C>T (p.Arg35Trp)
c.100C>T (p.Arg34Trp)
c.124C>T (p.Arg42Trp)
c.34C>T (p.Arg12Trp)
c.85C>T (p.Arg29Trp)
n.260-13C>T
 ClinVar dbSNP gnomAD v4
15g.34342063G>CCA391622149NOP10c.55-13C>G (n.55-13C>G)
c.103C>G (p.Arg35Gly)
c.100C>G (p.Arg34Gly)
c.124C>G (p.Arg42Gly)
c.34C>G (p.Arg12Gly)
c.85C>G (p.Arg29Gly)
n.260-13C>G
15g.34342063G>TCA489410053NOP10c.55-13C>A (n.55-13C>A)
c.103C>A (p.Arg35=)
c.100C>A (p.Arg34=)
c.124C>A (p.Arg42=)
c.34C>A (p.Arg12=)
c.85C>A (p.Arg29=)
n.260-13C>A
15g.34342064A>CCA489410057NOP10c.55-14T>G (n.55-14T>G)
c.102T>G (p.Ala34=)
c.99T>G (p.Ala33=)
c.123T>G (p.Ala41=)
c.33T>G (p.Ala11=)
c.84T>G (p.Ala28=)
n.260-14T>G
15g.34342064A>GCA489410055NOP10c.55-14T>C (n.55-14T>C)
c.102T>C (p.Ala34=)
c.99T>C (p.Ala33=)
c.123T>C (p.Ala41=)
c.33T>C (p.Ala11=)
c.84T>C (p.Ala28=)
n.260-14T>C
15g.34342064A>TCA489410056NOP10c.55-14T>A (n.55-14T>A)
c.102T>A (p.Ala34=)
c.99T>A (p.Ala33=)
c.123T>A (p.Ala41=)
c.33T>A (p.Ala11=)
c.84T>A (p.Ala28=)
n.260-14T>A
 gnomAD v4
15g.34342065G>ACA391622150NOP10c.55-15C>T (n.55-15C>T)
c.101C>T (p.Ala34Val)
c.98C>T (p.Ala33Val)
c.122C>T (p.Ala41Val)
c.32C>T (p.Ala11Val)
c.83C>T (p.Ala28Val)
n.260-15C>T
 dbSNP gnomAD v4
15g.34342065G>CCA391622152NOP10c.55-15C>G (n.55-15C>G)
c.101C>G (p.Ala34Gly)
c.98C>G (p.Ala33Gly)
c.122C>G (p.Ala41Gly)
c.32C>G (p.Ala11Gly)
c.83C>G (p.Ala28Gly)
n.260-15C>G
15g.34342065G>TCA391622151NOP10c.55-15C>A (n.55-15C>A)
c.101C>A (p.Ala34Asp)
c.98C>A (p.Ala33Asp)
c.122C>A (p.Ala41Asp)
c.32C>A (p.Ala11Asp)
c.83C>A (p.Ala28Asp)
n.260-15C>A
15g.34342066C>ACA391622153NOP10c.55-16G>T (n.55-16G>T)
c.100G>T (p.Ala34Ser)
c.97G>T (p.Ala33Ser)
c.121G>T (p.Ala41Ser)
c.31G>T (p.Ala11Ser)
c.82G>T (p.Ala28Ser)
n.260-16G>T
15g.34342066C>GCA391622154NOP10c.55-16G>C (n.55-16G>C)
c.100G>C (p.Ala34Pro)
c.97G>C (p.Ala33Pro)
c.121G>C (p.Ala41Pro)
c.31G>C (p.Ala11Pro)
c.82G>C (p.Ala28Pro)
n.260-16G>C
15g.34342066C>TCA391622155NOP10c.55-16G>A (n.55-16G>A)
c.100G>A (p.Ala34Thr)
c.97G>A (p.Ala33Thr)
c.121G>A (p.Ala41Thr)
c.31G>A (p.Ala11Thr)
c.82G>A (p.Ala28Thr)
n.260-16G>A
15g.34342067A>CCA489410060NOP10c.55-17T>G (n.55-17T>G)
c.99T>G (p.Pro33=)
c.96T>G (p.Pro32=)
c.120T>G (p.Pro40=)
c.30T>G (p.Pro10=)
c.81T>G (p.Pro27=)
n.260-17T>G
15g.34342067A>GCA489410059NOP10c.55-17T>C (n.55-17T>C)
c.99T>C (p.Pro33=)
c.96T>C (p.Pro32=)
c.120T>C (p.Pro40=)
c.30T>C (p.Pro10=)
c.81T>C (p.Pro27=)
n.260-17T>C
 COSMIC
15g.34342067A>TCA489410061NOP10c.55-17T>A (n.55-17T>A)
c.99T>A (p.Pro33=)
c.96T>A (p.Pro32=)
c.120T>A (p.Pro40=)
c.30T>A (p.Pro10=)
c.81T>A (p.Pro27=)
n.260-17T>A
15g.34342068G>ACA391622156NOP10c.55-18C>T (n.55-18C>T)
c.98C>T (p.Pro33Leu)
c.95C>T (p.Pro32Leu)
c.119C>T (p.Pro40Leu)
c.29C>T (p.Pro10Leu)
c.80C>T (p.Pro27Leu)
n.260-18C>T
 dbSNP
15g.34342068G>CCA391622157NOP10c.55-18C>G (n.55-18C>G)
c.98C>G (p.Pro33Arg)
c.95C>G (p.Pro32Arg)
c.119C>G (p.Pro40Arg)
c.29C>G (p.Pro10Arg)
c.80C>G (p.Pro27Arg)
n.260-18C>G
 ClinVar
15g.34342068G>TCA391622158NOP10c.55-18C>A (n.55-18C>A)
c.98C>A (p.Pro33His)
c.95C>A (p.Pro32His)
c.119C>A (p.Pro40His)
c.29C>A (p.Pro10His)
c.80C>A (p.Pro27His)
n.260-18C>A
15g.34342069G>ACA391622159NOP10c.55-19C>T (n.55-19C>T)
c.97C>T (p.Pro33Ser)
c.94C>T (p.Pro32Ser)
c.118C>T (p.Pro40Ser)
c.28C>T (p.Pro10Ser)
c.79C>T (p.Pro27Ser)
n.260-19C>T
 dbSNP
15g.34342069G>CCA7464776NOP10c.55-19C>G (n.55-19C>G)
c.97C>G (p.Pro33Ala)
c.94C>G (p.Pro32Ala)
c.118C>G (p.Pro40Ala)
c.28C>G (p.Pro10Ala)
c.79C>G (p.Pro27Ala)
n.260-19C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342069G>TCA391622160NOP10c.55-19C>A (n.55-19C>A)
c.97C>A (p.Pro33Thr)
c.94C>A (p.Pro32Thr)
c.118C>A (p.Pro40Thr)
c.28C>A (p.Pro10Thr)
c.79C>A (p.Pro27Thr)
n.260-19C>A
15g.34342070A>CCA391622161NOP10c.55-20T>G (n.55-20T>G)
c.96T>G (p.His32Gln)
c.93T>G (p.His31Gln)
c.117T>G (p.His39Gln)
c.27T>G (p.His9Gln)
c.78T>G (p.His26Gln)
n.260-20T>G
15g.34342070A>GCA489410063NOP10c.55-20T>C (n.55-20T>C)
c.96T>C (p.His32=)
c.93T>C (p.His31=)
c.117T>C (p.His39=)
c.27T>C (p.His9=)
c.78T>C (p.His26=)
n.260-20T>C
 gnomAD v4 COSMIC
15g.34342070A>TCA391622162NOP10c.55-20T>A (n.55-20T>A)
c.96T>A (p.His32Gln)
c.93T>A (p.His31Gln)
c.117T>A (p.His39Gln)
c.27T>A (p.His9Gln)
c.78T>A (p.His26Gln)
n.260-20T>A
15g.34342071T>ACA391622164NOP10c.55-21A>T (n.55-21A>T)
c.95A>T (p.His32Leu)
c.92A>T (p.His31Leu)
c.116A>T (p.His39Leu)
c.26A>T (p.His9Leu)
c.77A>T (p.His26Leu)
n.260-21A>T
15g.34342071T>CCA391622163NOP10c.55-21A>G (n.55-21A>G)
c.95A>G (p.His32Arg)
c.92A>G (p.His31Arg)
c.116A>G (p.His39Arg)
c.26A>G (p.His9Arg)
c.77A>G (p.His26Arg)
n.260-21A>G
 ClinVar dbSNP gnomAD v4
15g.34342071T>GCA7464777NOP10c.55-21A>C (n.55-21A>C)
c.95A>C (p.His32Pro)
c.92A>C (p.His31Pro)
c.116A>C (p.His39Pro)
c.26A>C (p.His9Pro)
c.77A>C (p.His26Pro)
n.260-21A>C
 dbSNP ExAC gnomAD v3 gnomAD v4
15g.34342072G>ACA391622165NOP10c.55-22C>T (n.55-22C>T)
c.94C>T (p.His32Tyr)
c.91C>T (p.His31Tyr)
c.115C>T (p.His39Tyr)
c.25C>T (p.His9Tyr)
c.76C>T (p.His26Tyr)
n.260-22C>T
 ClinVar
15g.34342072G>CCA391622166NOP10c.55-22C>G (n.55-22C>G)
c.94C>G (p.His32Asp)
c.91C>G (p.His31Asp)
c.115C>G (p.His39Asp)
c.25C>G (p.His9Asp)
c.76C>G (p.His26Asp)
n.260-22C>G
15g.34342072G>TCA391622167NOP10c.55-22C>A (n.55-22C>A)
c.94C>A (p.His32Asn)
c.91C>A (p.His31Asn)
c.115C>A (p.His39Asn)
c.25C>A (p.His9Asn)
c.76C>A (p.His26Asn)
n.260-22C>A
 gnomAD v4
15g.34342073G>ACA489410067NOP10c.55-23C>T (n.55-23C>T)
c.93C>T (p.Ala31=)
c.90C>T (p.Ala30=)
c.114C>T (p.Ala38=)
c.24C>T (p.Ala8=)
c.75C>T (p.Ala25=)
n.260-23C>T
 gnomAD v4
15g.34342073G>CCA489410069NOP10c.55-23C>G (n.55-23C>G)
c.93C>G (p.Ala31=)
c.90C>G (p.Ala30=)
c.114C>G (p.Ala38=)
c.24C>G (p.Ala8=)
c.75C>G (p.Ala25=)
n.260-23C>G
15g.34342073G>TCA489410068NOP10c.55-23C>A (n.55-23C>A)
c.93C>A (p.Ala31=)
c.90C>A (p.Ala30=)
c.114C>A (p.Ala38=)
c.24C>A (p.Ala8=)
c.75C>A (p.Ala25=)
n.260-23C>A
15g.34342074G>ACA391622168NOP10c.55-24C>T (n.55-24C>T)
c.92C>T (p.Ala31Val)
c.89C>T (p.Ala30Val)
c.113C>T (p.Ala38Val)
c.23C>T (p.Ala8Val)
c.74C>T (p.Ala25Val)
n.260-24C>T
 COSMIC
15g.34342074G>CCA7464778NOP10c.55-24C>G (n.55-24C>G)
c.92C>G (p.Ala31Gly)
c.89C>G (p.Ala30Gly)
c.113C>G (p.Ala38Gly)
c.23C>G (p.Ala8Gly)
c.74C>G (p.Ala25Gly)
n.260-24C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342074G>TCA391622169NOP10c.55-24C>A (n.55-24C>A)
c.92C>A (p.Ala31Asp)
c.89C>A (p.Ala30Asp)
c.113C>A (p.Ala38Asp)
c.23C>A (p.Ala8Asp)
c.74C>A (p.Ala25Asp)
n.260-24C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.34342075C>ACA391622170NOP10c.55-25G>T (n.55-25G>T)
c.91G>T (p.Ala31Ser)
c.88G>T (p.Ala30Ser)
c.112G>T (p.Ala38Ser)
c.22G>T (p.Ala8Ser)
c.73G>T (p.Ala25Ser)
n.260-25G>T
15g.34342075C>GCA391622171NOP10c.55-25G>C (n.55-25G>C)
c.91G>C (p.Ala31Pro)
c.88G>C (p.Ala30Pro)
c.112G>C (p.Ala38Pro)
c.22G>C (p.Ala8Pro)
c.73G>C (p.Ala25Pro)
n.260-25G>C
15g.34342075C>TCA391622172NOP10c.55-25G>A (n.55-25G>A)
c.91G>A (p.Ala31Thr)
c.88G>A (p.Ala30Thr)
c.112G>A (p.Ala38Thr)
c.22G>A (p.Ala8Thr)
c.73G>A (p.Ala25Thr)
n.260-25G>A
15g.34342076T>ACA489410073NOP10c.55-26A>T (n.55-26A>T)
c.90A>T (p.Ser30=)
c.87A>T (p.Ser29=)
c.111A>T (p.Ser37=)
c.21A>T (p.Ser7=)
c.72A>T (p.Ser24=)
n.260-26A>T
 gnomAD v4
15g.34342076T>CCA489410072NOP10c.55-26A>G (n.55-26A>G)
c.90A>G (p.Ser30=)
c.87A>G (p.Ser29=)
c.111A>G (p.Ser37=)
c.21A>G (p.Ser7=)
c.72A>G (p.Ser24=)
n.260-26A>G
15g.34342076T>GCA489410071NOP10c.55-26A>C (n.55-26A>C)
c.90A>C (p.Ser30=)
c.87A>C (p.Ser29=)
c.111A>C (p.Ser37=)
c.21A>C (p.Ser7=)
c.72A>C (p.Ser24=)
n.260-26A>C
15g.34342077G>ACA391622173NOP10c.55-27C>T (n.55-27C>T)
c.89C>T (p.Ser30Leu)
c.86C>T (p.Ser29Leu)
c.110C>T (p.Ser37Leu)
c.20C>T (p.Ser7Leu)
c.71C>T (p.Ser24Leu)
n.260-27C>T
15g.34342077G>CCA391622174NOP10c.55-27C>G (n.55-27C>G)
c.89C>G (p.Ser30Ter)
c.86C>G (p.Ser29Ter)
c.110C>G (p.Ser37Ter)
c.20C>G (p.Ser7Ter)
c.71C>G (p.Ser24Ter)
n.260-27C>G
15g.34342077G>TCA391622175NOP10c.55-27C>A (n.55-27C>A)
c.89C>A (p.Ser30Ter)
c.86C>A (p.Ser29Ter)
c.110C>A (p.Ser37Ter)
c.20C>A (p.Ser7Ter)
c.71C>A (p.Ser24Ter)
n.260-27C>A

Number of alleles fetched