Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.47698512A=CA2220493553PHKBc.*1642A= (n.*1642A=)
c.*696A= (n.*696A=)
c.3068A= (p.Asp1023=)
c.82A=
c.3047A= (p.Asp1016=)
n.1884A=
c.1646A= (p.Asp549=)
c.1955A= (p.Asp652=)
n.2992A=
16g.47698512A>CCA396101556PHKBc.*1642A>C (n.*1642A>C)
c.*696A>C (n.*696A>C)
c.3068A>C (p.Asp1023Ala)
c.82A>C
c.3047A>C (p.Asp1016Ala)
n.1884A>C
c.1646A>C (p.Asp549Ala)
c.1955A>C (p.Asp652Ala)
n.2992A>C
16g.47698512A>GCA396101557PHKBc.*1642A>G (n.*1642A>G)
c.*696A>G (n.*696A>G)
c.3068A>G (p.Asp1023Gly)
c.82A>G
c.3047A>G (p.Asp1016Gly)
n.1884A>G
c.1646A>G (p.Asp549Gly)
c.1955A>G (p.Asp652Gly)
n.2992A>G
dbSNP gnomAD v2 gnomAD v4
16g.47698512A>TCA396101558PHKBc.*1642A>T (n.*1642A>T)
c.*696A>T (n.*696A>T)
c.3068A>T (p.Asp1023Val)
c.82A>T
c.3047A>T (p.Asp1016Val)
n.1884A>T
c.1646A>T (p.Asp549Val)
c.1955A>T (p.Asp652Val)
n.2992A>T
16g.47698513T>ACA396101559PHKBc.*1643T>A (n.*1643T>A)
c.*697T>A (n.*697T>A)
c.3069T>A (p.Asp1023Glu)
c.83T>A
c.3048T>A (p.Asp1016Glu)
n.1885T>A
c.1647T>A (p.Asp549Glu)
c.1956T>A (p.Asp652Glu)
n.2993T>A
16g.47698513T>CCA495361464PHKBc.*1643T>C (n.*1643T>C)
c.*697T>C (n.*697T>C)
c.3069T>C (p.Asp1023=)
c.83T>C
c.3048T>C (p.Asp1016=)
n.1885T>C
c.1647T>C (p.Asp549=)
c.1956T>C (p.Asp652=)
n.2993T>C
16g.47698513T>GCA396101560PHKBc.*1643T>G (n.*1643T>G)
c.*697T>G (n.*697T>G)
c.3069T>G (p.Asp1023Glu)
c.83T>G
c.3048T>G (p.Asp1016Glu)
n.1885T>G
c.1647T>G (p.Asp549Glu)
c.1956T>G (p.Asp652Glu)
n.2993T>G
16g.47698514C>ACA396101561PHKBc.*1644C>A (n.*1644C>A)
c.*698C>A (n.*698C>A)
c.3070C>A (p.Leu1024Ile)
c.84C>A
c.3049C>A (p.Leu1017Ile)
n.1886C>A
c.1648C>A (p.Leu550Ile)
c.1957C>A (p.Leu653Ile)
n.2994C>A
gnomAD v4
16g.47698514C=CA2220493554PHKBc.*1644C= (n.*1644C=)
c.*698C= (n.*698C=)
c.3070C= (p.Leu1024=)
c.84C=
c.3049C= (p.Leu1017=)
n.1886C=
c.1648C= (p.Leu550=)
c.1957C= (p.Leu653=)
n.2994C=
16g.47698514C>GCA396101562PHKBc.*1644C>G (n.*1644C>G)
c.*698C>G (n.*698C>G)
c.3070C>G (p.Leu1024Val)
c.84C>G
c.3049C>G (p.Leu1017Val)
n.1886C>G
c.1648C>G (p.Leu550Val)
c.1957C>G (p.Leu653Val)
n.2994C>G
gnomAD v4
16g.47698514C>TCA280739852PHKBc.*1644C>T (n.*1644C>T)
c.*698C>T (n.*698C>T)
c.3070C>T (p.Leu1024=)
c.84C>T
c.3049C>T (p.Leu1017=)
n.1886C>T
c.1648C>T (p.Leu550=)
c.1957C>T (p.Leu653=)
n.2994C>T
dbSNP
16g.47698515T>ACA396101563PHKBc.*1645T>A (n.*1645T>A)
c.*699T>A (n.*699T>A)
c.3071T>A (p.Leu1024Gln)
c.85T>A
c.3050T>A (p.Leu1017Gln)
n.1887T>A
c.1649T>A (p.Leu550Gln)
c.1958T>A (p.Leu653Gln)
n.2995T>A
16g.47698515T>CCA396101564PHKBc.*1645T>C (n.*1645T>C)
c.*699T>C (n.*699T>C)
c.3071T>C (p.Leu1024Pro)
c.85T>C
c.3050T>C (p.Leu1017Pro)
n.1887T>C
c.1649T>C (p.Leu550Pro)
c.1958T>C (p.Leu653Pro)
n.2995T>C
16g.47698515T>GCA396101565PHKBc.*1645T>G (n.*1645T>G)
c.*699T>G (n.*699T>G)
c.3071T>G (p.Leu1024Arg)
c.85T>G
c.3050T>G (p.Leu1017Arg)
n.1887T>G
c.1649T>G (p.Leu550Arg)
c.1958T>G (p.Leu653Arg)
n.2995T>G
gnomAD v4
16g.47698516delCA2575984642PHKBc.*1646del (n.*1646del)
c.*700del (n.*700del)
c.3072del (p.Asp1025ThrfsTer18)
c.86del
c.3051del (p.Asp1018ThrfsTer18)
n.1888del
c.1650del (p.Asp551ThrfsTer18)
c.1959del (p.Asp654ThrfsTer18)
n.2996del
16g.47698516A>CCA495361465PHKBc.*1646A>C (n.*1646A>C)
c.*700A>C (n.*700A>C)
c.3072A>C (p.Leu1024=)
c.86A>C
c.3051A>C (p.Leu1017=)
n.1888A>C
c.1650A>C (p.Leu550=)
c.1959A>C (p.Leu653=)
n.2996A>C
16g.47698516A>GCA495361466PHKBc.*1646A>G (n.*1646A>G)
c.*700A>G (n.*700A>G)
c.3072A>G (p.Leu1024=)
c.86A>G
c.3051A>G (p.Leu1017=)
n.1888A>G
c.1650A>G (p.Leu550=)
c.1959A>G (p.Leu653=)
n.2996A>G
gnomAD v4
16g.47698516A>TCA495361467PHKBc.*1646A>T (n.*1646A>T)
c.*700A>T (n.*700A>T)
c.3072A>T (p.Leu1024=)
c.86A>T
c.3051A>T (p.Leu1017=)
n.1888A>T
c.1650A>T (p.Leu550=)
c.1959A>T (p.Leu653=)
n.2996A>T
16g.47698517G>ACA8041423PHKBc.*1647G>A (n.*1647G>A)
c.*701G>A (n.*701G>A)
c.3073G>A (p.Asp1025Asn)
c.87G>A
c.3052G>A (p.Asp1018Asn)
n.1889G>A
c.1651G>A (p.Asp551Asn)
c.1960G>A (p.Asp654Asn)
n.2997G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.47698517G>CCA396101567PHKBc.*1647G>C (n.*1647G>C)
c.*701G>C (n.*701G>C)
c.3073G>C (p.Asp1025His)
c.87G>C
c.3052G>C (p.Asp1018His)
n.1889G>C
c.1651G>C (p.Asp551His)
c.1960G>C (p.Asp654His)
n.2997G>C
16g.47698517G=CA2220493555PHKBc.*1647G= (n.*1647G=)
c.*701G= (n.*701G=)
c.3073G= (p.Asp1025=)
c.87G=
c.3052G= (p.Asp1018=)
n.1889G=
c.1651G= (p.Asp551=)
c.1960G= (p.Asp654=)
n.2997G=
16g.47698517G>TCA396101566PHKBc.*1647G>T (n.*1647G>T)
c.*701G>T (n.*701G>T)
c.3073G>T (p.Asp1025Tyr)
c.87G>T
c.3052G>T (p.Asp1018Tyr)
n.1889G>T
c.1651G>T (p.Asp551Tyr)
c.1960G>T (p.Asp654Tyr)
n.2997G>T
16g.47698518A=CA2220493556PHKBc.*1648A= (n.*1648A=)
c.*702A= (n.*702A=)
c.3074A= (p.Asp1025=)
c.88A=
c.3053A= (p.Asp1018=)
n.1890A=
c.1652A= (p.Asp551=)
c.1961A= (p.Asp654=)
n.2998A=
16g.47698518A>CCA396101568PHKBc.*1648A>C (n.*1648A>C)
c.*702A>C (n.*702A>C)
c.3074A>C (p.Asp1025Ala)
c.88A>C
c.3053A>C (p.Asp1018Ala)
n.1890A>C
c.1652A>C (p.Asp551Ala)
c.1961A>C (p.Asp654Ala)
n.2998A>C
16g.47698518A>GCA280739855PHKBc.*1648A>G (n.*1648A>G)
c.*702A>G (n.*702A>G)
c.3074A>G (p.Asp1025Gly)
c.88A>G
c.3053A>G (p.Asp1018Gly)
n.1890A>G
c.1652A>G (p.Asp551Gly)
c.1961A>G (p.Asp654Gly)
n.2998A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.47698518A>TCA396101569PHKBc.*1648A>T (n.*1648A>T)
c.*702A>T (n.*702A>T)
c.3074A>T (p.Asp1025Val)
c.88A>T
c.3053A>T (p.Asp1018Val)
n.1890A>T
c.1652A>T (p.Asp551Val)
c.1961A>T (p.Asp654Val)
n.2998A>T
16g.47698519C>ACA396101570PHKBc.*1649C>A (n.*1649C>A)
c.*703C>A (n.*703C>A)
c.3075C>A (p.Asp1025Glu)
c.89C>A
c.3054C>A (p.Asp1018Glu)
n.1891C>A
c.1653C>A (p.Asp551Glu)
c.1962C>A (p.Asp654Glu)
n.2999C>A
16g.47698519C>GCA396101571PHKBc.*1649C>G (n.*1649C>G)
c.*703C>G (n.*703C>G)
c.3075C>G (p.Asp1025Glu)
c.89C>G
c.3054C>G (p.Asp1018Glu)
n.1891C>G
c.1653C>G (p.Asp551Glu)
c.1962C>G (p.Asp654Glu)
n.2999C>G
16g.47698519C>TCA495361468PHKBc.*1649C>T (n.*1649C>T)
c.*703C>T (n.*703C>T)
c.3075C>T (p.Asp1025=)
c.89C>T
c.3054C>T (p.Asp1018=)
n.1891C>T
c.1653C>T (p.Asp551=)
c.1962C>T (p.Asp654=)
n.2999C>T
gnomAD v4
16g.47698520A>CCA495361469PHKBc.*1650A>C (n.*1650A>C)
c.*704A>C (n.*704A>C)
c.3076A>C (p.Arg1026=)
c.90A>C
c.3055A>C (p.Arg1019=)
n.1892A>C
c.1654A>C (p.Arg552=)
c.1963A>C (p.Arg655=)
n.3000A>C
16g.47698520A>GCA396101572PHKBc.*1650A>G (n.*1650A>G)
c.*704A>G (n.*704A>G)
c.3076A>G (p.Arg1026Gly)
c.90A>G
c.3055A>G (p.Arg1019Gly)
n.1892A>G
c.1654A>G (p.Arg552Gly)
c.1963A>G (p.Arg655Gly)
n.3000A>G
16g.47698520A>TCA396101573PHKBc.*1650A>T (n.*1650A>T)
c.*704A>T (n.*704A>T)
c.3076A>T (p.Arg1026Ter)
c.90A>T
c.3055A>T (p.Arg1019Ter)
n.1892A>T
c.1654A>T (p.Arg552Ter)
c.1963A>T (p.Arg655Ter)
n.3000A>T
16g.47698521G>ACA396101574PHKBc.*1651G>A (n.*1651G>A)
c.*705G>A (n.*705G>A)
c.3077G>A (p.Arg1026Lys)
c.91G>A
c.3056G>A (p.Arg1019Lys)
n.1893G>A
c.1655G>A (p.Arg552Lys)
c.1964G>A (p.Arg655Lys)
n.3001G>A
16g.47698521G>CCA396101575PHKBc.*1651G>C (n.*1651G>C)
c.*705G>C (n.*705G>C)
c.3077G>C (p.Arg1026Thr)
c.91G>C
c.3056G>C (p.Arg1019Thr)
n.1893G>C
c.1655G>C (p.Arg552Thr)
c.1964G>C (p.Arg655Thr)
n.3001G>C
16g.47698521G>TCA396101576PHKBc.*1651G>T (n.*1651G>T)
c.*705G>T (n.*705G>T)
c.3077G>T (p.Arg1026Ile)
c.91G>T
c.3056G>T (p.Arg1019Ile)
n.1893G>T
c.1655G>T (p.Arg552Ile)
c.1964G>T (p.Arg655Ile)
n.3001G>T
16g.47698522A=CA2220493557PHKBc.*1652A= (n.*1652A=)
c.*706A= (n.*706A=)
c.3078A= (p.Arg1026=)
c.92A=
c.3057A= (p.Arg1019=)
n.1894A=
c.1656A= (p.Arg552=)
c.1965A= (p.Arg655=)
n.3002A=
16g.47698522A>CCA396101577PHKBc.*1652A>C (n.*1652A>C)
c.*706A>C (n.*706A>C)
c.3078A>C (p.Arg1026Ser)
c.92A>C
c.3057A>C (p.Arg1019Ser)
n.1894A>C
c.1656A>C (p.Arg552Ser)
c.1965A>C (p.Arg655Ser)
n.3002A>C
16g.47698522A>GCA495361470PHKBc.*1652A>G (n.*1652A>G)
c.*706A>G (n.*706A>G)
c.3078A>G (p.Arg1026=)
c.92A>G
c.3057A>G (p.Arg1019=)
n.1894A>G
c.1656A>G (p.Arg552=)
c.1965A>G (p.Arg655=)
n.3002A>G
dbSNP gnomAD v3 gnomAD v4
16g.47698522A>TCA396101578PHKBc.*1652A>T (n.*1652A>T)
c.*706A>T (n.*706A>T)
c.3078A>T (p.Arg1026Ser)
c.92A>T
c.3057A>T (p.Arg1019Ser)
n.1894A>T
c.1656A>T (p.Arg552Ser)
c.1965A>T (p.Arg655Ser)
n.3002A>T
16g.47698523C>ACA396101580PHKBc.*1653C>A (n.*1653C>A)
c.*707C>A (n.*707C>A)
c.3079C>A (p.Leu1027Met)
c.93C>A
c.3058C>A (p.Leu1020Met)
n.1895C>A
c.1657C>A (p.Leu553Met)
c.1966C>A (p.Leu656Met)
n.3003C>A
16g.47698523C=CA2220493558PHKBc.*1653C= (n.*1653C=)
c.*707C= (n.*707C=)
c.3079C= (p.Leu1027=)
c.93C=
c.3058C= (p.Leu1020=)
n.1895C=
c.1657C= (p.Leu553=)
c.1966C= (p.Leu656=)
n.3003C=
16g.47698523C>GCA396101579PHKBc.*1653C>G (n.*1653C>G)
c.*707C>G (n.*707C>G)
c.3079C>G (p.Leu1027Val)
c.93C>G
c.3058C>G (p.Leu1020Val)
n.1895C>G
c.1657C>G (p.Leu553Val)
c.1966C>G (p.Leu656Val)
n.3003C>G
dbSNP
16g.47698523C>TCA8041424PHKBc.*1653C>T (n.*1653C>T)
c.*707C>T (n.*707C>T)
c.3079C>T (p.Leu1027=)
c.93C>T
c.3058C>T (p.Leu1020=)
n.1895C>T
c.1657C>T (p.Leu553=)
c.1966C>T (p.Leu656=)
n.3003C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.47698524T>ACA396101581PHKBc.*1654T>A (n.*1654T>A)
c.*708T>A (n.*708T>A)
c.3080T>A (p.Leu1027Gln)
c.94T>A
c.3059T>A (p.Leu1020Gln)
n.1896T>A
c.1658T>A (p.Leu553Gln)
c.1967T>A (p.Leu656Gln)
n.3004T>A
16g.47698524T>CCA8041425PHKBc.*1654T>C (n.*1654T>C)
c.*708T>C (n.*708T>C)
c.3080T>C (p.Leu1027Pro)
c.94T>C
c.3059T>C (p.Leu1020Pro)
n.1896T>C
c.1658T>C (p.Leu553Pro)
c.1967T>C (p.Leu656Pro)
n.3004T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698524T>GCA396101582PHKBc.*1654T>G (n.*1654T>G)
c.*708T>G (n.*708T>G)
c.3080T>G (p.Leu1027Arg)
c.94T>G
c.3059T>G (p.Leu1020Arg)
n.1896T>G
c.1658T>G (p.Leu553Arg)
c.1967T>G (p.Leu656Arg)
n.3004T>G
16g.47698524T=CA2220493559PHKBc.*1654T= (n.*1654T=)
c.*708T= (n.*708T=)
c.3080T= (p.Leu1027=)
c.94T=
c.3059T= (p.Leu1020=)
n.1896T=
c.1658T= (p.Leu553=)
c.1967T= (p.Leu656=)
n.3004T=
16g.47698525G>ACA495361471PHKBc.*1655G>A (n.*1655G>A)
c.*709G>A (n.*709G>A)
c.3081G>A (p.Leu1027=)
c.95G>A
c.3060G>A (p.Leu1020=)
n.1897G>A
c.1659G>A (p.Leu553=)
c.1968G>A (p.Leu656=)
n.3005G>A
16g.47698525G>CCA495361472PHKBc.*1655G>C (n.*1655G>C)
c.*709G>C (n.*709G>C)
c.3081G>C (p.Leu1027=)
c.95G>C
c.3060G>C (p.Leu1020=)
n.1897G>C
c.1659G>C (p.Leu553=)
c.1968G>C (p.Leu656=)
n.3005G>C
16g.47698525G>TCA495361473PHKBc.*1655G>T (n.*1655G>T)
c.*709G>T (n.*709G>T)
c.3081G>T (p.Leu1027=)
c.95G>T
c.3060G>T (p.Leu1020=)
n.1897G>T
c.1659G>T (p.Leu553=)
c.1968G>T (p.Leu656=)
n.3005G>T
16g.47698526G>ACA396101583PHKBc.*1656G>A (n.*1656G>A)
c.*710G>A (n.*710G>A)
c.3082G>A (p.Val1028Ile)
c.96G>A
c.3061G>A (p.Val1021Ile)
n.1898G>A
c.1660G>A (p.Val554Ile)
c.1969G>A (p.Val657Ile)
n.3006G>A
16g.47698526G>CCA396101584PHKBc.*1656G>C (n.*1656G>C)
c.*710G>C (n.*710G>C)
c.3082G>C (p.Val1028Leu)
c.96G>C
c.3061G>C (p.Val1021Leu)
n.1898G>C
c.1660G>C (p.Val554Leu)
c.1969G>C (p.Val657Leu)
n.3006G>C
16g.47698526G>TCA396101585PHKBc.*1656G>T (n.*1656G>T)
c.*710G>T (n.*710G>T)
c.3082G>T (p.Val1028Phe)
c.96G>T
c.3061G>T (p.Val1021Phe)
n.1898G>T
c.1660G>T (p.Val554Phe)
c.1969G>T (p.Val657Phe)
n.3006G>T
16g.47698527T>ACA396101586PHKBc.*1657T>A (n.*1657T>A)
c.*711T>A (n.*711T>A)
c.3083T>A (p.Val1028Asp)
c.97T>A
c.3062T>A (p.Val1021Asp)
n.1899T>A
c.1661T>A (p.Val554Asp)
c.1970T>A (p.Val657Asp)
n.3007T>A
16g.47698527T>CCA396101587PHKBc.*1657T>C (n.*1657T>C)
c.*711T>C (n.*711T>C)
c.3083T>C (p.Val1028Ala)
c.97T>C
c.3062T>C (p.Val1021Ala)
n.1899T>C
c.1661T>C (p.Val554Ala)
c.1970T>C (p.Val657Ala)
n.3007T>C
16g.47698527T>GCA396101588PHKBc.*1657T>G (n.*1657T>G)
c.*711T>G (n.*711T>G)
c.3083T>G (p.Val1028Gly)
c.97T>G
c.3062T>G (p.Val1021Gly)
n.1899T>G
c.1661T>G (p.Val554Gly)
c.1970T>G (p.Val657Gly)
n.3007T>G
ClinVar dbSNP
16g.47698528C>ACA495361475PHKBc.*1658C>A (n.*1658C>A)
c.*712C>A (n.*712C>A)
c.3084C>A (p.Val1028=)
c.98C>A
c.3063C>A (p.Val1021=)
n.1900C>A
c.1662C>A (p.Val554=)
c.1971C>A (p.Val657=)
n.3008C>A
gnomAD v3 gnomAD v4
16g.47698528C>GCA495361476PHKBc.*1658C>G (n.*1658C>G)
c.*712C>G (n.*712C>G)
c.3084C>G (p.Val1028=)
c.98C>G
c.3063C>G (p.Val1021=)
n.1900C>G
c.1662C>G (p.Val554=)
c.1971C>G (p.Val657=)
n.3008C>G
16g.47698528C>TCA495361477PHKBc.*1658C>T (n.*1658C>T)
c.*712C>T (n.*712C>T)
c.3084C>T (p.Val1028=)
c.98C>T
c.3063C>T (p.Val1021=)
n.1900C>T
c.1662C>T (p.Val554=)
c.1971C>T (p.Val657=)
n.3008C>T
gnomAD v4
16g.47698529A=CA2220493560PHKBc.*1659A= (n.*1659A=)
c.*713A= (n.*713A=)
c.3085A= (p.Lys1029=)
c.99A=
c.3064A= (p.Lys1022=)
n.1901A=
c.1663A= (p.Lys555=)
c.1972A= (p.Lys658=)
n.3009A=
16g.47698529A>CCA396101589PHKBc.*1659A>C (n.*1659A>C)
c.*713A>C (n.*713A>C)
c.3085A>C (p.Lys1029Gln)
c.99A>C
c.3064A>C (p.Lys1022Gln)
n.1901A>C
c.1663A>C (p.Lys555Gln)
c.1972A>C (p.Lys658Gln)
n.3009A>C
16g.47698529A>GCA8041426PHKBc.*1659A>G (n.*1659A>G)
c.*713A>G (n.*713A>G)
c.3085A>G (p.Lys1029Glu)
c.99A>G
c.3064A>G (p.Lys1022Glu)
n.1901A>G
c.1663A>G (p.Lys555Glu)
c.1972A>G (p.Lys658Glu)
n.3009A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698529A>TCA396101590PHKBc.*1659A>T (n.*1659A>T)
c.*713A>T (n.*713A>T)
c.3085A>T (p.Lys1029Ter)
c.99A>T
c.3064A>T (p.Lys1022Ter)
n.1901A>T
c.1663A>T (p.Lys555Ter)
c.1972A>T (p.Lys658Ter)
n.3009A>T
16g.47698530A>CCA396101591PHKBc.*1660A>C (n.*1660A>C)
c.*714A>C (n.*714A>C)
c.3086A>C (p.Lys1029Thr)
c.100A>C
c.3065A>C (p.Lys1022Thr)
n.1902A>C
c.1664A>C (p.Lys555Thr)
c.1973A>C (p.Lys658Thr)
n.3010A>C
16g.47698530A>GCA396101593PHKBc.*1660A>G (n.*1660A>G)
c.*714A>G (n.*714A>G)
c.3086A>G (p.Lys1029Arg)
c.100A>G
c.3065A>G (p.Lys1022Arg)
n.1902A>G
c.1664A>G (p.Lys555Arg)
c.1973A>G (p.Lys658Arg)
n.3010A>G
16g.47698530A>TCA396101592PHKBc.*1660A>T (n.*1660A>T)
c.*714A>T (n.*714A>T)
c.3086A>T (p.Lys1029Ile)
c.100A>T
c.3065A>T (p.Lys1022Ile)
n.1902A>T
c.1664A>T (p.Lys555Ile)
c.1973A>T (p.Lys658Ile)
n.3010A>T
16g.47698531A>CCA396101594PHKBc.*1661A>C (n.*1661A>C)
c.*715A>C (n.*715A>C)
c.3087A>C (p.Lys1029Asn)
c.101A>C
c.3066A>C (p.Lys1022Asn)
n.1903A>C
c.1665A>C (p.Lys555Asn)
c.1974A>C (p.Lys658Asn)
n.3011A>C
16g.47698531A>GCA495361478PHKBc.*1661A>G (n.*1661A>G)
c.*715A>G (n.*715A>G)
c.3087A>G (p.Lys1029=)
c.101A>G
c.3066A>G (p.Lys1022=)
n.1903A>G
c.1665A>G (p.Lys555=)
c.1974A>G (p.Lys658=)
n.3011A>G
gnomAD v4
16g.47698531A>TCA396101595PHKBc.*1661A>T (n.*1661A>T)
c.*715A>T (n.*715A>T)
c.3087A>T (p.Lys1029Asn)
c.101A>T
c.3066A>T (p.Lys1022Asn)
n.1903A>T
c.1665A>T (p.Lys555Asn)
c.1974A>T (p.Lys658Asn)
n.3011A>T
16g.47698532G>ACA396101596PHKBc.*1662G>A (n.*1662G>A)
c.*716G>A (n.*716G>A)
c.3088G>A (p.Glu1030Lys)
c.102G>A
c.3067G>A (p.Glu1023Lys)
n.1904G>A
c.1666G>A (p.Glu556Lys)
c.1975G>A (p.Glu659Lys)
n.3012G>A
16g.47698532G>CCA396101598PHKBc.*1662G>C (n.*1662G>C)
c.*716G>C (n.*716G>C)
c.3088G>C (p.Glu1030Gln)
c.102G>C
c.3067G>C (p.Glu1023Gln)
n.1904G>C
c.1666G>C (p.Glu556Gln)
c.1975G>C (p.Glu659Gln)
n.3012G>C
16g.47698532G>TCA396101597PHKBc.*1662G>T (n.*1662G>T)
c.*716G>T (n.*716G>T)
c.3088G>T (p.Glu1030Ter)
c.102G>T
c.3067G>T (p.Glu1023Ter)
n.1904G>T
c.1666G>T (p.Glu556Ter)
c.1975G>T (p.Glu659Ter)
n.3012G>T
16g.47698532_47698540delCA2633050213PHKBc.*1662_*1670del (n.*1662_*1670del)
c.*716_*724del (n.*716_*724del)
c.3088_3096del (p.Glu1030_Phe1032del)
c.102_110del
c.3067_3075del (p.Glu1023_Phe1025del)
n.1904_1912del
c.1666_1674del (p.Glu556_Phe558del)
c.1975_1983del (p.Glu659_Phe661del)
n.3012_3020del
gnomAD v4
16g.47698533A=CA2220493561PHKBc.*1663A= (n.*1663A=)
c.*717A= (n.*717A=)
c.3089A= (p.Glu1030=)
c.103A=
c.3068A= (p.Glu1023=)
n.1905A=
c.1667A= (p.Glu556=)
c.1976A= (p.Glu659=)
n.3013A=
16g.47698533A>CCA396101599PHKBc.*1663A>C (n.*1663A>C)
c.*717A>C (n.*717A>C)
c.3089A>C (p.Glu1030Ala)
c.103A>C
c.3068A>C (p.Glu1023Ala)
n.1905A>C
c.1667A>C (p.Glu556Ala)
c.1976A>C (p.Glu659Ala)
n.3013A>C
16g.47698533A>GCA8041427PHKBc.*1663A>G (n.*1663A>G)
c.*717A>G (n.*717A>G)
c.3089A>G (p.Glu1030Gly)
c.103A>G
c.3068A>G (p.Glu1023Gly)
n.1905A>G
c.1667A>G (p.Glu556Gly)
c.1976A>G (p.Glu659Gly)
n.3013A>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.47698533A>TCA396101600PHKBc.*1663A>T (n.*1663A>T)
c.*717A>T (n.*717A>T)
c.3089A>T (p.Glu1030Val)
c.103A>T
c.3068A>T (p.Glu1023Val)
n.1905A>T
c.1667A>T (p.Glu556Val)
c.1976A>T (p.Glu659Val)
n.3013A>T
16g.47698534A>CCA396101601PHKBc.*1664A>C (n.*1664A>C)
c.*718A>C (n.*718A>C)
c.3090A>C (p.Glu1030Asp)
c.104A>C
c.3069A>C (p.Glu1023Asp)
n.1906A>C
c.1668A>C (p.Glu556Asp)
c.1977A>C (p.Glu659Asp)
n.3014A>C
16g.47698534A>GCA495361480PHKBc.*1664A>G (n.*1664A>G)
c.*718A>G (n.*718A>G)
c.3090A>G (p.Glu1030=)
c.104A>G
c.3069A>G (p.Glu1023=)
n.1906A>G
c.1668A>G (p.Glu556=)
c.1977A>G (p.Glu659=)
n.3014A>G
gnomAD v4
16g.47698534A>TCA396101602PHKBc.*1664A>T (n.*1664A>T)
c.*718A>T (n.*718A>T)
c.3090A>T (p.Glu1030Asp)
c.104A>T
c.3069A>T (p.Glu1023Asp)
n.1906A>T
c.1668A>T (p.Glu556Asp)
c.1977A>T (p.Glu659Asp)
n.3014A>T
16g.47698535G>ACA280739860PHKBc.*1665G>A (n.*1665G>A)
c.*719G>A (n.*719G>A)
c.3091G>A (p.Ala1031Thr)
c.105G>A
c.3070G>A (p.Ala1024Thr)
n.1907G>A
c.1669G>A (p.Ala557Thr)
c.1978G>A (p.Ala660Thr)
n.3015G>A
dbSNP gnomAD v2 gnomAD v4
16g.47698535G>CCA396101604PHKBc.*1665G>C (n.*1665G>C)
c.*719G>C (n.*719G>C)
c.3091G>C (p.Ala1031Pro)
c.105G>C
c.3070G>C (p.Ala1024Pro)
n.1907G>C
c.1669G>C (p.Ala557Pro)
c.1978G>C (p.Ala660Pro)
n.3015G>C
16g.47698535G=CA2220493562PHKBc.*1665G= (n.*1665G=)
c.*719G= (n.*719G=)
c.3091G= (p.Ala1031=)
c.105G=
c.3070G= (p.Ala1024=)
n.1907G=
c.1669G= (p.Ala557=)
c.1978G= (p.Ala660=)
n.3015G=
16g.47698535G>TCA396101603PHKBc.*1665G>T (n.*1665G>T)
c.*719G>T (n.*719G>T)
c.3091G>T (p.Ala1031Ser)
c.105G>T
c.3070G>T (p.Ala1024Ser)
n.1907G>T
c.1669G>T (p.Ala557Ser)
c.1978G>T (p.Ala660Ser)
n.3015G>T
gnomAD v4
16g.47698536C>ACA396101605PHKBc.*1666C>A (n.*1666C>A)
c.*720C>A (n.*720C>A)
c.3092C>A (p.Ala1031Glu)
c.106C>A
c.3071C>A (p.Ala1024Glu)
n.1908C>A
c.1670C>A (p.Ala557Glu)
c.1979C>A (p.Ala660Glu)
n.3016C>A
16g.47698536C=CA2220493563PHKBc.*1666C= (n.*1666C=)
c.*720C= (n.*720C=)
c.3092C= (p.Ala1031=)
c.106C=
c.3071C= (p.Ala1024=)
n.1908C=
c.1670C= (p.Ala557=)
c.1979C= (p.Ala660=)
n.3016C=
16g.47698536C>GCA396101606PHKBc.*1666C>G (n.*1666C>G)
c.*720C>G (n.*720C>G)
c.3092C>G (p.Ala1031Gly)
c.106C>G
c.3071C>G (p.Ala1024Gly)
n.1908C>G
c.1670C>G (p.Ala557Gly)
c.1979C>G (p.Ala660Gly)
n.3016C>G
dbSNP gnomAD v3 gnomAD v4
16g.47698536C>TCA8041428PHKBc.*1666C>T (n.*1666C>T)
c.*720C>T (n.*720C>T)
c.3092C>T (p.Ala1031Val)
c.106C>T
c.3071C>T (p.Ala1024Val)
n.1908C>T
c.1670C>T (p.Ala557Val)
c.1979C>T (p.Ala660Val)
n.3016C>T
dbSNP ExAC gnomAD v2
16g.47698537A=CA2220493564PHKBc.*1667A= (n.*1667A=)
c.*721A= (n.*721A=)
c.3093A= (p.Ala1031=)
c.107A=
c.3072A= (p.Ala1024=)
n.1909A=
c.1671A= (p.Ala557=)
c.1980A= (p.Ala660=)
n.3017A=
16g.47698537A>CCA495361481PHKBc.*1667A>C (n.*1667A>C)
c.*721A>C (n.*721A>C)
c.3093A>C (p.Ala1031=)
c.107A>C
c.3072A>C (p.Ala1024=)
n.1909A>C
c.1671A>C (p.Ala557=)
c.1980A>C (p.Ala660=)
n.3017A>C
16g.47698537A>GCA495361483PHKBc.*1667A>G (n.*1667A>G)
c.*721A>G (n.*721A>G)
c.3093A>G (p.Ala1031=)
c.107A>G
c.3072A>G (p.Ala1024=)
n.1909A>G
c.1671A>G (p.Ala557=)
c.1980A>G (p.Ala660=)
n.3017A>G
dbSNP
16g.47698537A>TCA495361482PHKBc.*1667A>T (n.*1667A>T)
c.*721A>T (n.*721A>T)
c.3093A>T (p.Ala1031=)
c.107A>T
c.3072A>T (p.Ala1024=)
n.1909A>T
c.1671A>T (p.Ala557=)
c.1980A>T (p.Ala660=)
n.3017A>T
16g.47698538T>ACA396101607PHKBc.*1668T>A (n.*1668T>A)
c.*722T>A (n.*722T>A)
c.3094T>A (p.Phe1032Ile)
c.108T>A
c.3073T>A (p.Phe1025Ile)
n.1910T>A
c.1672T>A (p.Phe558Ile)
c.1981T>A (p.Phe661Ile)
n.3018T>A
16g.47698538T>CCA396101608PHKBc.*1668T>C (n.*1668T>C)
c.*722T>C (n.*722T>C)
c.3094T>C (p.Phe1032Leu)
c.108T>C
c.3073T>C (p.Phe1025Leu)
n.1910T>C
c.1672T>C (p.Phe558Leu)
c.1981T>C (p.Phe661Leu)
n.3018T>C
16g.47698538T>GCA396101609PHKBc.*1668T>G (n.*1668T>G)
c.*722T>G (n.*722T>G)
c.3094T>G (p.Phe1032Val)
c.108T>G
c.3073T>G (p.Phe1025Val)
n.1910T>G
c.1672T>G (p.Phe558Val)
c.1981T>G (p.Phe661Val)
n.3018T>G
gnomAD v4
16g.47698539T>ACA396101610PHKBc.*1669T>A (n.*1669T>A)
c.*723T>A (n.*723T>A)
c.3095T>A (p.Phe1032Tyr)
c.109T>A
c.3074T>A (p.Phe1025Tyr)
n.1911T>A
c.1673T>A (p.Phe558Tyr)
c.1982T>A (p.Phe661Tyr)
n.3019T>A
16g.47698539T>CCA396101612PHKBc.*1669T>C (n.*1669T>C)
c.*723T>C (n.*723T>C)
c.3095T>C (p.Phe1032Ser)
c.109T>C
c.3074T>C (p.Phe1025Ser)
n.1911T>C
c.1673T>C (p.Phe558Ser)
c.1982T>C (p.Phe661Ser)
n.3019T>C
16g.47698539T>GCA396101611PHKBc.*1669T>G (n.*1669T>G)
c.*723T>G (n.*723T>G)
c.3095T>G (p.Phe1032Cys)
c.109T>G
c.3074T>G (p.Phe1025Cys)
n.1911T>G
c.1673T>G (p.Phe558Cys)
c.1982T>G (p.Phe661Cys)
n.3019T>G
16g.47698540T>ACA396101613PHKBc.*1670T>A (n.*1670T>A)
c.*724T>A (n.*724T>A)
c.3096T>A (p.Phe1032Leu)
c.110T>A
c.3075T>A (p.Phe1025Leu)
n.1912T>A
c.1674T>A (p.Phe558Leu)
c.1983T>A (p.Phe661Leu)
n.3020T>A
16g.47698540T>CCA495361484PHKBc.*1670T>C (n.*1670T>C)
c.*724T>C (n.*724T>C)
c.3096T>C (p.Phe1032=)
c.110T>C
c.3075T>C (p.Phe1025=)
n.1912T>C
c.1674T>C (p.Phe558=)
c.1983T>C (p.Phe661=)
n.3020T>C
16g.47698540T>GCA396101614PHKBc.*1670T>G (n.*1670T>G)
c.*724T>G (n.*724T>G)
c.3096T>G (p.Phe1032Leu)
c.110T>G
c.3075T>G (p.Phe1025Leu)
n.1912T>G
c.1674T>G (p.Phe558Leu)
c.1983T>G (p.Phe661Leu)
n.3020T>G
16g.47698541A>CCA396101615PHKBc.*1671A>C (n.*1671A>C)
c.*725A>C (n.*725A>C)
c.3097A>C (p.Asn1033His)
c.111A>C
c.3076A>C (p.Asn1026His)
n.1913A>C
c.1675A>C (p.Asn559His)
c.1984A>C (p.Asn662His)
n.3021A>C
16g.47698541A>GCA396101616PHKBc.*1671A>G (n.*1671A>G)
c.*725A>G (n.*725A>G)
c.3097A>G (p.Asn1033Asp)
c.111A>G
c.3076A>G (p.Asn1026Asp)
n.1913A>G
c.1675A>G (p.Asn559Asp)
c.1984A>G (p.Asn662Asp)
n.3021A>G
gnomAD v4
16g.47698541A>TCA396101617PHKBc.*1671A>T (n.*1671A>T)
c.*725A>T (n.*725A>T)
c.3097A>T (p.Asn1033Tyr)
c.111A>T
c.3076A>T (p.Asn1026Tyr)
n.1913A>T
c.1675A>T (p.Asn559Tyr)
c.1984A>T (p.Asn662Tyr)
n.3021A>T
16g.47698542A=CA2220493565PHKBc.*1672A= (n.*1672A=)
c.*726A= (n.*726A=)
c.3098A= (p.Asn1033=)
c.112A=
c.3077A= (p.Asn1026=)
n.1914A=
c.1676A= (p.Asn559=)
c.1985A= (p.Asn662=)
n.3022A=
16g.47698542A>CCA396101618PHKBc.*1672A>C (n.*1672A>C)
c.*726A>C (n.*726A>C)
c.3098A>C (p.Asn1033Thr)
c.112A>C
c.3077A>C (p.Asn1026Thr)
n.1914A>C
c.1676A>C (p.Asn559Thr)
c.1985A>C (p.Asn662Thr)
n.3022A>C
16g.47698542A>GCA280739863PHKBc.*1672A>G (n.*1672A>G)
c.*726A>G (n.*726A>G)
c.3098A>G (p.Asn1033Ser)
c.112A>G
c.3077A>G (p.Asn1026Ser)
n.1914A>G
c.1676A>G (p.Asn559Ser)
c.1985A>G (p.Asn662Ser)
n.3022A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.47698542A>TCA396101619PHKBc.*1672A>T (n.*1672A>T)
c.*726A>T (n.*726A>T)
c.3098A>T (p.Asn1033Ile)
c.112A>T
c.3077A>T (p.Asn1026Ile)
n.1914A>T
c.1676A>T (p.Asn559Ile)
c.1985A>T (p.Asn662Ile)
n.3022A>T
16g.47698543T>ACA396101620PHKBc.*1673T>A (n.*1673T>A)
c.*727T>A (n.*727T>A)
c.3099T>A (p.Asn1033Lys)
c.113T>A
c.3078T>A (p.Asn1026Lys)
n.1915T>A
c.1677T>A (p.Asn559Lys)
c.1986T>A (p.Asn662Lys)
n.3023T>A
16g.47698543T>CCA495361485PHKBc.*1673T>C (n.*1673T>C)
c.*727T>C (n.*727T>C)
c.3099T>C (p.Asn1033=)
c.113T>C
c.3078T>C (p.Asn1026=)
n.1915T>C
c.1677T>C (p.Asn559=)
c.1986T>C (p.Asn662=)
n.3023T>C
16g.47698543T>GCA396101621PHKBc.*1673T>G (n.*1673T>G)
c.*727T>G (n.*727T>G)
c.3099T>G (p.Asn1033Lys)
c.113T>G
c.3078T>G (p.Asn1026Lys)
n.1915T>G
c.1677T>G (p.Asn559Lys)
c.1986T>G (p.Asn662Lys)
n.3023T>G
16g.47698544G>ACA8041429PHKBc.*1674G>A (n.*1674G>A)
c.*728G>A (n.*728G>A)
c.3100G>A (p.Glu1034Lys)
c.114G>A
c.3079G>A (p.Glu1027Lys)
n.1916G>A
c.1678G>A (p.Glu560Lys)
c.1987G>A (p.Glu663Lys)
n.3024G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698544G>CCA396101623PHKBc.*1674G>C (n.*1674G>C)
c.*728G>C (n.*728G>C)
c.3100G>C (p.Glu1034Gln)
c.114G>C
c.3079G>C (p.Glu1027Gln)
n.1916G>C
c.1678G>C (p.Glu560Gln)
c.1987G>C (p.Glu663Gln)
n.3024G>C
16g.47698544G=CA2220493566PHKBc.*1674G= (n.*1674G=)
c.*728G= (n.*728G=)
c.3100G= (p.Glu1034=)
c.114G=
c.3079G= (p.Glu1027=)
n.1916G=
c.1678G= (p.Glu560=)
c.1987G= (p.Glu663=)
n.3024G=
16g.47698544G>TCA396101622PHKBc.*1674G>T (n.*1674G>T)
c.*728G>T (n.*728G>T)
c.3100G>T (p.Glu1034Ter)
c.114G>T
c.3079G>T (p.Glu1027Ter)
n.1916G>T
c.1678G>T (p.Glu560Ter)
c.1987G>T (p.Glu663Ter)
n.3024G>T
gnomAD v4
16g.47698545A>CCA396101624PHKBc.*1675A>C (n.*1675A>C)
c.*729A>C (n.*729A>C)
c.3101A>C (p.Glu1034Ala)
c.115A>C
c.3080A>C (p.Glu1027Ala)
n.1917A>C
c.1679A>C (p.Glu560Ala)
c.1988A>C (p.Glu663Ala)
n.3025A>C
16g.47698545A>GCA396101625PHKBc.*1675A>G (n.*1675A>G)
c.*729A>G (n.*729A>G)
c.3101A>G (p.Glu1034Gly)
c.115A>G
c.3080A>G (p.Glu1027Gly)
n.1917A>G
c.1679A>G (p.Glu560Gly)
c.1988A>G (p.Glu663Gly)
n.3025A>G
gnomAD v4
16g.47698545A>TCA396101626PHKBc.*1675A>T (n.*1675A>T)
c.*729A>T (n.*729A>T)
c.3101A>T (p.Glu1034Val)
c.115A>T
c.3080A>T (p.Glu1027Val)
n.1917A>T
c.1679A>T (p.Glu560Val)
c.1988A>T (p.Glu663Val)
n.3025A>T
gnomAD v4
16g.47698546A=CA2220493567PHKBc.*1676A= (n.*1676A=)
c.*730A= (n.*730A=)
c.3102A= (p.Glu1034=)
c.116A=
c.3081A= (p.Glu1027=)
n.1918A=
c.1680A= (p.Glu560=)
c.1989A= (p.Glu663=)
n.3026A=
16g.47698546A>CCA396101627PHKBc.*1676A>C (n.*1676A>C)
c.*730A>C (n.*730A>C)
c.3102A>C (p.Glu1034Asp)
c.116A>C
c.3081A>C (p.Glu1027Asp)
n.1918A>C
c.1680A>C (p.Glu560Asp)
c.1989A>C (p.Glu663Asp)
n.3026A>C
16g.47698546A>GCA495361486PHKBc.*1676A>G (n.*1676A>G)
c.*730A>G (n.*730A>G)
c.3102A>G (p.Glu1034=)
c.116A>G
c.3081A>G (p.Glu1027=)
n.1918A>G
c.1680A>G (p.Glu560=)
c.1989A>G (p.Glu663=)
n.3026A>G
dbSNP gnomAD v3 gnomAD v4
16g.47698546A>TCA396101628PHKBc.*1676A>T (n.*1676A>T)
c.*730A>T (n.*730A>T)
c.3102A>T (p.Glu1034Asp)
c.116A>T
c.3081A>T (p.Glu1027Asp)
n.1918A>T
c.1680A>T (p.Glu560Asp)
c.1989A>T (p.Glu663Asp)
n.3026A>T
16g.47698547T>ACA396101629PHKBc.*1677T>A (n.*1677T>A)
c.*731T>A (n.*731T>A)
c.3103T>A (p.Phe1035Ile)
c.117T>A
c.3082T>A (p.Phe1028Ile)
n.1919T>A
c.1681T>A (p.Phe561Ile)
c.1990T>A (p.Phe664Ile)
n.3027T>A
16g.47698547T>CCA396101630PHKBc.*1677T>C (n.*1677T>C)
c.*731T>C (n.*731T>C)
c.3103T>C (p.Phe1035Leu)
c.117T>C
c.3082T>C (p.Phe1028Leu)
n.1919T>C
c.1681T>C (p.Phe561Leu)
c.1990T>C (p.Phe664Leu)
n.3027T>C
16g.47698547T>GCA396101631PHKBc.*1677T>G (n.*1677T>G)
c.*731T>G (n.*731T>G)
c.3103T>G (p.Phe1035Val)
c.117T>G
c.3082T>G (p.Phe1028Val)
n.1919T>G
c.1681T>G (p.Phe561Val)
c.1990T>G (p.Phe664Val)
n.3027T>G
16g.47698548T>ACA396101632PHKBc.*1678T>A (n.*1678T>A)
c.*732T>A (n.*732T>A)
c.3104T>A (p.Phe1035Tyr)
c.118T>A
c.3083T>A (p.Phe1028Tyr)
n.1920T>A
c.1682T>A (p.Phe561Tyr)
c.1991T>A (p.Phe664Tyr)
n.3028T>A
16g.47698548T>CCA396101633PHKBc.*1678T>C (n.*1678T>C)
c.*732T>C (n.*732T>C)
c.3104T>C (p.Phe1035Ser)
c.118T>C
c.3083T>C (p.Phe1028Ser)
n.1920T>C
c.1682T>C (p.Phe561Ser)
c.1991T>C (p.Phe664Ser)
n.3028T>C
16g.47698548T>GCA396101634PHKBc.*1678T>G (n.*1678T>G)
c.*732T>G (n.*732T>G)
c.3104T>G (p.Phe1035Cys)
c.118T>G
c.3083T>G (p.Phe1028Cys)
n.1920T>G
c.1682T>G (p.Phe561Cys)
c.1991T>G (p.Phe664Cys)
n.3028T>G
16g.47698549T>ACA396101636PHKBc.*1679T>A (n.*1679T>A)
c.*733T>A (n.*733T>A)
c.3105T>A (p.Phe1035Leu)
c.119T>A
c.3084T>A (p.Phe1028Leu)
n.1921T>A
c.1683T>A (p.Phe561Leu)
c.1992T>A (p.Phe664Leu)
n.3029T>A
16g.47698549T>CCA495361487PHKBc.*1679T>C (n.*1679T>C)
c.*733T>C (n.*733T>C)
c.3105T>C (p.Phe1035=)
c.119T>C
c.3084T>C (p.Phe1028=)
n.1921T>C
c.1683T>C (p.Phe561=)
c.1992T>C (p.Phe664=)
n.3029T>C
16g.47698549T>GCA396101635PHKBc.*1679T>G (n.*1679T>G)
c.*733T>G (n.*733T>G)
c.3105T>G (p.Phe1035Leu)
c.119T>G
c.3084T>G (p.Phe1028Leu)
n.1921T>G
c.1683T>G (p.Phe561Leu)
c.1992T>G (p.Phe664Leu)
n.3029T>G
16g.47698550C>ACA396101637PHKBc.*1680C>A (n.*1680C>A)
c.*734C>A (n.*734C>A)
c.3106C>A (p.Gln1036Lys)
c.120C>A
c.3085C>A (p.Gln1029Lys)
n.1922C>A
c.1684C>A (p.Gln562Lys)
c.1993C>A (p.Gln665Lys)
n.3030C>A
gnomAD v3 gnomAD v4
16g.47698550C>GCA396101638PHKBc.*1680C>G (n.*1680C>G)
c.*734C>G (n.*734C>G)
c.3106C>G (p.Gln1036Glu)
c.120C>G
c.3085C>G (p.Gln1029Glu)
n.1922C>G
c.1684C>G (p.Gln562Glu)
c.1993C>G (p.Gln665Glu)
n.3030C>G
16g.47698550C>TCA396101639PHKBc.*1680C>T (n.*1680C>T)
c.*734C>T (n.*734C>T)
c.3106C>T (p.Gln1036Ter)
c.120C>T
c.3085C>T (p.Gln1029Ter)
n.1922C>T
c.1684C>T (p.Gln562Ter)
c.1993C>T (p.Gln665Ter)
n.3030C>T
16g.47698551A=CA2220493568PHKBc.*1681A= (n.*1681A=)
c.*735A= (n.*735A=)
c.3107A= (p.Gln1036=)
c.121A=
c.3086A= (p.Gln1029=)
n.1923A=
c.1685A= (p.Gln562=)
c.1994A= (p.Gln665=)
n.3031A=
16g.47698551A>CCA396101640PHKBc.*1681A>C (n.*1681A>C)
c.*735A>C (n.*735A>C)
c.3107A>C (p.Gln1036Pro)
c.121A>C
c.3086A>C (p.Gln1029Pro)
n.1923A>C
c.1685A>C (p.Gln562Pro)
c.1994A>C (p.Gln665Pro)
n.3031A>C
16g.47698551A>GCA8041430PHKBc.*1681A>G (n.*1681A>G)
c.*735A>G (n.*735A>G)
c.3107A>G (p.Gln1036Arg)
c.121A>G
c.3086A>G (p.Gln1029Arg)
n.1923A>G
c.1685A>G (p.Gln562Arg)
c.1994A>G (p.Gln665Arg)
n.3031A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698551A>TCA396101641PHKBc.*1681A>T (n.*1681A>T)
c.*735A>T (n.*735A>T)
c.3107A>T (p.Gln1036Leu)
c.121A>T
c.3086A>T (p.Gln1029Leu)
n.1923A>T
c.1685A>T (p.Gln562Leu)
c.1994A>T (p.Gln665Leu)
n.3031A>T
16g.47698552A=CA2220493569PHKBc.*1682A= (n.*1682A=)
c.*736A= (n.*736A=)
c.3108A= (p.Gln1036=)
c.122A=
c.3087A= (p.Gln1029=)
n.1924A=
c.1686A= (p.Gln562=)
c.1995A= (p.Gln665=)
n.3032A=
16g.47698552A>CCA396101642PHKBc.*1682A>C (n.*1682A>C)
c.*736A>C (n.*736A>C)
c.3108A>C (p.Gln1036His)
c.122A>C
c.3087A>C (p.Gln1029His)
n.1924A>C
c.1686A>C (p.Gln562His)
c.1995A>C (p.Gln665His)
n.3032A>C
16g.47698552A>GCA8041431PHKBc.*1682A>G (n.*1682A>G)
c.*736A>G (n.*736A>G)
c.3108A>G (p.Gln1036=)
c.122A>G
c.3087A>G (p.Gln1029=)
n.1924A>G
c.1686A>G (p.Gln562=)
c.1995A>G (p.Gln665=)
n.3032A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698552A>TCA396101643PHKBc.*1682A>T (n.*1682A>T)
c.*736A>T (n.*736A>T)
c.3108A>T (p.Gln1036His)
c.122A>T
c.3087A>T (p.Gln1029His)
n.1924A>T
c.1686A>T (p.Gln562His)
c.1995A>T (p.Gln665His)
n.3032A>T
16g.47698553A>CCA396101644PHKBc.*1683A>C (n.*1683A>C)
c.*737A>C (n.*737A>C)
c.3109A>C (p.Lys1037Gln)
c.123A>C
c.3088A>C (p.Lys1030Gln)
n.1925A>C
c.1687A>C (p.Lys563Gln)
c.1996A>C (p.Lys666Gln)
n.3033A>C
16g.47698553A>GCA396101645PHKBc.*1683A>G (n.*1683A>G)
c.*737A>G (n.*737A>G)
c.3109A>G (p.Lys1037Glu)
c.123A>G
c.3088A>G (p.Lys1030Glu)
n.1925A>G
c.1687A>G (p.Lys563Glu)
c.1996A>G (p.Lys666Glu)
n.3033A>G
16g.47698553A>TCA396101646PHKBc.*1683A>T (n.*1683A>T)
c.*737A>T (n.*737A>T)
c.3109A>T (p.Lys1037Ter)
c.123A>T
c.3088A>T (p.Lys1030Ter)
n.1925A>T
c.1687A>T (p.Lys563Ter)
c.1996A>T (p.Lys666Ter)
n.3033A>T
16g.47698554A>CCA396101648PHKBc.*1684A>C (n.*1684A>C)
c.*738A>C (n.*738A>C)
c.3110A>C (p.Lys1037Thr)
c.124A>C
c.3089A>C (p.Lys1030Thr)
n.1926A>C
c.1688A>C (p.Lys563Thr)
c.1997A>C (p.Lys666Thr)
n.3034A>C
16g.47698554A>GCA396101649PHKBc.*1684A>G (n.*1684A>G)
c.*738A>G (n.*738A>G)
c.3110A>G (p.Lys1037Arg)
c.124A>G
c.3089A>G (p.Lys1030Arg)
n.1926A>G
c.1688A>G (p.Lys563Arg)
c.1997A>G (p.Lys666Arg)
n.3034A>G
16g.47698554A>TCA396101647PHKBc.*1684A>T (n.*1684A>T)
c.*738A>T (n.*738A>T)
c.3110A>T (p.Lys1037Ile)
c.124A>T
c.3089A>T (p.Lys1030Ile)
n.1926A>T
c.1688A>T (p.Lys563Ile)
c.1997A>T (p.Lys666Ile)
n.3034A>T
16g.47698555A>CCA396101651PHKBc.*1685A>C (n.*1685A>C)
c.*739A>C (n.*739A>C)
c.3111A>C (p.Lys1037Asn)
c.125A>C
c.3090A>C (p.Lys1030Asn)
n.1927A>C
c.1689A>C (p.Lys563Asn)
c.1998A>C (p.Lys666Asn)
n.3035A>C
16g.47698555A>GCA495361488PHKBc.*1685A>G (n.*1685A>G)
c.*739A>G (n.*739A>G)
c.3111A>G (p.Lys1037=)
c.125A>G
c.3090A>G (p.Lys1030=)
n.1927A>G
c.1689A>G (p.Lys563=)
c.1998A>G (p.Lys666=)
n.3035A>G
16g.47698555A>TCA396101650PHKBc.*1685A>T (n.*1685A>T)
c.*739A>T (n.*739A>T)
c.3111A>T (p.Lys1037Asn)
c.125A>T
c.3090A>T (p.Lys1030Asn)
n.1927A>T
c.1689A>T (p.Lys563Asn)
c.1998A>T (p.Lys666Asn)
n.3035A>T
16g.47698556G>ACA396101652PHKBc.*1686G>A (n.*1686G>A)
c.*740G>A (n.*740G>A)
c.3112G>A (p.Asp1038Asn)
c.126G>A
c.3091G>A (p.Asp1031Asn)
n.1928G>A
c.1690G>A (p.Asp564Asn)
c.1999G>A (p.Asp667Asn)
n.3036G>A
16g.47698556G>CCA396101653PHKBc.*1686G>C (n.*1686G>C)
c.*740G>C (n.*740G>C)
c.3112G>C (p.Asp1038His)
c.126G>C
c.3091G>C (p.Asp1031His)
n.1928G>C
c.1690G>C (p.Asp564His)
c.1999G>C (p.Asp667His)
n.3036G>C
16g.47698556G>TCA396101654PHKBc.*1686G>T (n.*1686G>T)
c.*740G>T (n.*740G>T)
c.3112G>T (p.Asp1038Tyr)
c.126G>T
c.3091G>T (p.Asp1031Tyr)
n.1928G>T
c.1690G>T (p.Asp564Tyr)
c.1999G>T (p.Asp667Tyr)
n.3036G>T
gnomAD v4
16g.47698557A=CA2220493570PHKBc.*1687A= (n.*1687A=)
c.*741A= (n.*741A=)
c.3113A= (p.Asp1038=)
c.127A=
c.3092A= (p.Asp1031=)
n.1929A=
c.1691A= (p.Asp564=)
c.2000A= (p.Asp667=)
n.3037A=
16g.47698557A>CCA396101655PHKBc.*1687A>C (n.*1687A>C)
c.*741A>C (n.*741A>C)
c.3113A>C (p.Asp1038Ala)
c.127A>C
c.3092A>C (p.Asp1031Ala)
n.1929A>C
c.1691A>C (p.Asp564Ala)
c.2000A>C (p.Asp667Ala)
n.3037A>C
16g.47698557A>GCA396101656PHKBc.*1687A>G (n.*1687A>G)
c.*741A>G (n.*741A>G)
c.3113A>G (p.Asp1038Gly)
c.127A>G
c.3092A>G (p.Asp1031Gly)
n.1929A>G
c.1691A>G (p.Asp564Gly)
c.2000A>G (p.Asp667Gly)
n.3037A>G
COSMIC COSMIC
16g.47698557A>TCA396101657PHKBc.*1687A>T (n.*1687A>T)
c.*741A>T (n.*741A>T)
c.3113A>T (p.Asp1038Val)
c.127A>T
c.3092A>T (p.Asp1031Val)
n.1929A>T
c.1691A>T (p.Asp564Val)
c.2000A>T (p.Asp667Val)
n.3037A>T
dbSNP gnomAD v2 gnomAD v4
16g.47698558T>ACA396101658PHKBc.*1688T>A (n.*1688T>A)
c.*742T>A (n.*742T>A)
c.3114T>A (p.Asp1038Glu)
c.128T>A
c.3093T>A (p.Asp1031Glu)
n.1930T>A
c.1692T>A (p.Asp564Glu)
c.2001T>A (p.Asp667Glu)
n.3038T>A
gnomAD v3 gnomAD v4
16g.47698558T>CCA495361489PHKBc.*1688T>C (n.*1688T>C)
c.*742T>C (n.*742T>C)
c.3114T>C (p.Asp1038=)
c.128T>C
c.3093T>C (p.Asp1031=)
n.1930T>C
c.1692T>C (p.Asp564=)
c.2001T>C (p.Asp667=)
n.3038T>C
gnomAD v4
16g.47698558T>GCA396101659PHKBc.*1688T>G (n.*1688T>G)
c.*742T>G (n.*742T>G)
c.3114T>G (p.Asp1038Glu)
c.128T>G
c.3093T>G (p.Asp1031Glu)
n.1930T>G
c.1692T>G (p.Asp564Glu)
c.2001T>G (p.Asp667Glu)
n.3038T>G
dbSNP gnomAD v3 gnomAD v4
16g.47698558T=CA2220493571PHKBc.*1688T= (n.*1688T=)
c.*742T= (n.*742T=)
c.3114T= (p.Asp1038=)
c.128T=
c.3093T= (p.Asp1031=)
n.1930T=
c.1692T= (p.Asp564=)
c.2001T= (p.Asp667=)
n.3038T=
16g.47698559delCA2633050214PHKBc.*1689del (n.*1689del)
c.*743del (n.*743del)
c.3115del (p.Gln1039ArgfsTer4)
c.129del
c.3094del (p.Gln1032ArgfsTer4)
n.1931del
c.1693del (p.Gln565ArgfsTer4)
c.2002del (p.Gln668ArgfsTer4)
n.3039del
gnomAD v4
16g.47698559C>ACA396101660PHKBc.*1689C>A (n.*1689C>A)
c.*743C>A (n.*743C>A)
c.3115C>A (p.Gln1039Lys)
c.129C>A
c.3094C>A (p.Gln1032Lys)
n.1931C>A
c.1693C>A (p.Gln565Lys)
c.2002C>A (p.Gln668Lys)
n.3039C>A
gnomAD v4
16g.47698559C>GCA396101661PHKBc.*1689C>G (n.*1689C>G)
c.*743C>G (n.*743C>G)
c.3115C>G (p.Gln1039Glu)
c.129C>G
c.3094C>G (p.Gln1032Glu)
n.1931C>G
c.1693C>G (p.Gln565Glu)
c.2002C>G (p.Gln668Glu)
n.3039C>G
gnomAD v4
16g.47698559C>TCA396101662PHKBc.*1689C>T (n.*1689C>T)
c.*743C>T (n.*743C>T)
c.3115C>T (p.Gln1039Ter)
c.129C>T
c.3094C>T (p.Gln1032Ter)
n.1931C>T
c.1693C>T (p.Gln565Ter)
c.2002C>T (p.Gln668Ter)
n.3039C>T
16g.47698560A=CA2220493572PHKBc.*1690A= (n.*1690A=)
c.*744A= (n.*744A=)
c.3116A= (p.Gln1039=)
c.130A=
c.3095A= (p.Gln1032=)
n.1932A=
c.1694A= (p.Gln565=)
c.2003A= (p.Gln668=)
n.3040A=
16g.47698560A>CCA8041432PHKBc.*1690A>C (n.*1690A>C)
c.*744A>C (n.*744A>C)
c.3116A>C (p.Gln1039Pro)
c.130A>C
c.3095A>C (p.Gln1032Pro)
n.1932A>C
c.1694A>C (p.Gln565Pro)
c.2003A>C (p.Gln668Pro)
n.3040A>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.47698560A>GCA396101664PHKBc.*1690A>G (n.*1690A>G)
c.*744A>G (n.*744A>G)
c.3116A>G (p.Gln1039Arg)
c.130A>G
c.3095A>G (p.Gln1032Arg)
n.1932A>G
c.1694A>G (p.Gln565Arg)
c.2003A>G (p.Gln668Arg)
n.3040A>G
gnomAD v4
16g.47698560A>TCA396101663PHKBc.*1690A>T (n.*1690A>T)
c.*744A>T (n.*744A>T)
c.3116A>T (p.Gln1039Leu)
c.130A>T
c.3095A>T (p.Gln1032Leu)
n.1932A>T
c.1694A>T (p.Gln565Leu)
c.2003A>T (p.Gln668Leu)
n.3040A>T
16g.47698561G>ACA495361490PHKBc.*1691G>A (n.*1691G>A)
c.*745G>A (n.*745G>A)
c.3117G>A (p.Gln1039=)
c.131G>A
c.3096G>A (p.Gln1032=)
n.1933G>A
c.1695G>A (p.Gln565=)
c.2004G>A (p.Gln668=)
n.3041G>A
16g.47698561G>CCA396101665PHKBc.*1691G>C (n.*1691G>C)
c.*745G>C (n.*745G>C)
c.3117G>C (p.Gln1039His)
c.131G>C
c.3096G>C (p.Gln1032His)
n.1933G>C
c.1695G>C (p.Gln565His)
c.2004G>C (p.Gln668His)
n.3041G>C
gnomAD v4
16g.47698561G>TCA396101666PHKBc.*1691G>T (n.*1691G>T)
c.*745G>T (n.*745G>T)
c.3117G>T (p.Gln1039His)
c.131G>T
c.3096G>T (p.Gln1032His)
n.1933G>T
c.1695G>T (p.Gln565His)
c.2004G>T (p.Gln668His)
n.3041G>T
16g.47698562A=CA2220493573PHKBc.*1692A= (n.*1692A=)
c.*746A= (n.*746A=)
c.3118A= (p.Ser1040=)
c.132A=
c.3097A= (p.Ser1033=)
n.1934A=
c.1696A= (p.Ser566=)
c.2005A= (p.Ser669=)
n.3042A=
16g.47698562A>CCA396101667PHKBc.*1692A>C (n.*1692A>C)
c.*746A>C (n.*746A>C)
c.3118A>C (p.Ser1040Arg)
c.132A>C
c.3097A>C (p.Ser1033Arg)
n.1934A>C
c.1696A>C (p.Ser566Arg)
c.2005A>C (p.Ser669Arg)
n.3042A>C
gnomAD v4
16g.47698562A>GCA280739869PHKBc.*1692A>G (n.*1692A>G)
c.*746A>G (n.*746A>G)
c.3118A>G (p.Ser1040Gly)
c.132A>G
c.3097A>G (p.Ser1033Gly)
n.1934A>G
c.1696A>G (p.Ser566Gly)
c.2005A>G (p.Ser669Gly)
n.3042A>G
dbSNP
16g.47698562A>TCA396101668PHKBc.*1692A>T (n.*1692A>T)
c.*746A>T (n.*746A>T)
c.3118A>T (p.Ser1040Cys)
c.132A>T
c.3097A>T (p.Ser1033Cys)
n.1934A>T
c.1696A>T (p.Ser566Cys)
c.2005A>T (p.Ser669Cys)
n.3042A>T
gnomAD v4
16g.47698563G>ACA396101669PHKBc.*1693G>A (n.*1693G>A)
c.*747G>A (n.*747G>A)
c.3119G>A (p.Ser1040Asn)
c.133G>A
c.3098G>A (p.Ser1033Asn)
n.1935G>A
c.1697G>A (p.Ser566Asn)
c.2006G>A (p.Ser669Asn)
n.3043G>A
gnomAD v4
16g.47698563G>CCA396101670PHKBc.*1693G>C (n.*1693G>C)
c.*747G>C (n.*747G>C)
c.3119G>C (p.Ser1040Thr)
c.133G>C
c.3098G>C (p.Ser1033Thr)
n.1935G>C
c.1697G>C (p.Ser566Thr)
c.2006G>C (p.Ser669Thr)
n.3043G>C
COSMIC
16g.47698563G>TCA396101671PHKBc.*1693G>T (n.*1693G>T)
c.*747G>T (n.*747G>T)
c.3119G>T (p.Ser1040Ile)
c.133G>T
c.3098G>T (p.Ser1033Ile)
n.1935G>T
c.1697G>T (p.Ser566Ile)
c.2006G>T (p.Ser669Ile)
n.3043G>T
gnomAD v4
16g.47698564T>ACA396101672PHKBc.*1694T>A (n.*1694T>A)
c.*748T>A (n.*748T>A)
c.3120T>A (p.Ser1040Arg)
c.134T>A
c.3099T>A (p.Ser1033Arg)
n.1936T>A
c.1698T>A (p.Ser566Arg)
c.2007T>A (p.Ser669Arg)
n.3044T>A
16g.47698564T>CCA495361491PHKBc.*1694T>C (n.*1694T>C)
c.*748T>C (n.*748T>C)
c.3120T>C (p.Ser1040=)
c.134T>C
c.3099T>C (p.Ser1033=)
n.1936T>C
c.1698T>C (p.Ser566=)
c.2007T>C (p.Ser669=)
n.3044T>C
16g.47698564T>GCA396101673PHKBc.*1694T>G (n.*1694T>G)
c.*748T>G (n.*748T>G)
c.3120T>G (p.Ser1040Arg)
c.134T>G
c.3099T>G (p.Ser1033Arg)
n.1936T>G
c.1698T>G (p.Ser566Arg)
c.2007T>G (p.Ser669Arg)
n.3044T>G
16g.47698565C>ACA495361492PHKBc.*1695C>A (n.*1695C>A)
c.*749C>A (n.*749C>A)
c.3121C>A (p.Arg1041=)
c.135C>A
c.3100C>A (p.Arg1034=)
n.1937C>A
c.1699C>A (p.Arg567=)
c.2008C>A (p.Arg670=)
n.3045C>A
gnomAD v4
16g.47698565C=CA2220493574PHKBc.*1695C= (n.*1695C=)
c.*749C= (n.*749C=)
c.3121C= (p.Arg1041=)
c.135C=
c.3100C= (p.Arg1034=)
n.1937C=
c.1699C= (p.Arg567=)
c.2008C= (p.Arg670=)
n.3045C=
16g.47698565C>GCA396101674PHKBc.*1695C>G (n.*1695C>G)
c.*749C>G (n.*749C>G)
c.3121C>G (p.Arg1041Gly)
c.135C>G
c.3100C>G (p.Arg1034Gly)
n.1937C>G
c.1699C>G (p.Arg567Gly)
c.2008C>G (p.Arg670Gly)
n.3045C>G
16g.47698565C>TCA8041433PHKBc.*1695C>T (n.*1695C>T)
c.*749C>T (n.*749C>T)
c.3121C>T (p.Arg1041Trp)
c.135C>T
c.3100C>T (p.Arg1034Trp)
n.1937C>T
c.1699C>T (p.Arg567Trp)
c.2008C>T (p.Arg670Trp)
n.3045C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698566G>ACA8041434PHKBc.*1696G>A (n.*1696G>A)
c.*750G>A (n.*750G>A)
c.3122G>A (p.Arg1041Gln)
c.136G>A
c.3101G>A (p.Arg1034Gln)
n.1938G>A
c.1700G>A (p.Arg567Gln)
c.2009G>A (p.Arg670Gln)
n.3046G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698566G>CCA396101676PHKBc.*1696G>C (n.*1696G>C)
c.*750G>C (n.*750G>C)
c.3122G>C (p.Arg1041Pro)
c.136G>C
c.3101G>C (p.Arg1034Pro)
n.1938G>C
c.1700G>C (p.Arg567Pro)
c.2009G>C (p.Arg670Pro)
n.3046G>C
16g.47698566G=CA2220493575PHKBc.*1696G= (n.*1696G=)
c.*750G= (n.*750G=)
c.3122G= (p.Arg1041=)
c.136G=
c.3101G= (p.Arg1034=)
n.1938G=
c.1700G= (p.Arg567=)
c.2009G= (p.Arg670=)
n.3046G=
16g.47698566G>TCA396101675PHKBc.*1696G>T (n.*1696G>T)
c.*750G>T (n.*750G>T)
c.3122G>T (p.Arg1041Leu)
c.136G>T
c.3101G>T (p.Arg1034Leu)
n.1938G>T
c.1700G>T (p.Arg567Leu)
c.2009G>T (p.Arg670Leu)
n.3046G>T
dbSNP gnomAD v3 gnomAD v4
16g.47698567G>ACA495361493PHKBc.*1697G>A (n.*1697G>A)
c.*751G>A (n.*751G>A)
c.3123G>A (p.Arg1041=)
c.137G>A
c.3102G>A (p.Arg1034=)
n.1939G>A
c.1701G>A (p.Arg567=)
c.2010G>A (p.Arg670=)
n.3047G>A
gnomAD v4
16g.47698567G>CCA495361494PHKBc.*1697G>C (n.*1697G>C)
c.*751G>C (n.*751G>C)
c.3123G>C (p.Arg1041=)
c.137G>C
c.3102G>C (p.Arg1034=)
n.1939G>C
c.1701G>C (p.Arg567=)
c.2010G>C (p.Arg670=)
n.3047G>C
16g.47698567G=CA2220493577PHKBc.*1697G= (n.*1697G=)
c.*751G= (n.*751G=)
c.3123G= (p.Arg1041=)
c.137G=
c.3102G= (p.Arg1034=)
n.1939G=
c.1701G= (p.Arg567=)
c.2010G= (p.Arg670=)
n.3047G=
16g.47698567G>TCA8041435PHKBc.*1697G>T (n.*1697G>T)
c.*751G>T (n.*751G>T)
c.3123G>T (p.Arg1041=)
c.137G>T
c.3102G>T (p.Arg1034=)
n.1939G>T
c.1701G>T (p.Arg567=)
c.2010G>T (p.Arg670=)
n.3047G>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.47698567_47698568delinsGCCA2220493576PHKBc.*1697_*1698delinsGC (n.*1697_*1698delinsGC)
c.*751_*752delinsGC (n.*751_*752delinsGC)
c.3123_3124delinsGC (p.Arg1041=)
c.137_138delinsGC
c.3102_3103delinsGC (p.Arg1034=)
n.1939_1940delinsGC
c.1701_1702delinsGC (p.Arg567=)
c.2010_2011delinsGC (p.Arg670=)
n.3047_3048delinsGC
16g.47698568delCA8041436PHKBc.*1698del (n.*1698del)
c.*752del (n.*752del)
c.3124del (p.Leu1042Ter)
c.138del
c.3103del (p.Leu1035Ter)
n.1940del
c.1702del (p.Leu568Ter)
c.2011del (p.Leu671Ter)
n.3048del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.47698568C>ACA396101677PHKBc.*1698C>A (n.*1698C>A)
c.*752C>A (n.*752C>A)
c.3124C>A (p.Leu1042Ile)
c.138C>A
c.3103C>A (p.Leu1035Ile)
n.1940C>A
c.1702C>A (p.Leu568Ile)
c.2011C>A (p.Leu671Ile)
n.3048C>A
gnomAD v3 gnomAD v4
16g.47698568C=CA2220493578PHKBc.*1698C= (n.*1698C=)
c.*752C= (n.*752C=)
c.3124C= (p.Leu1042=)
c.138C=
c.3103C= (p.Leu1035=)
n.1940C=
c.1702C= (p.Leu568=)
c.2011C= (p.Leu671=)
n.3048C=
16g.47698568C>GCA280739874PHKBc.*1698C>G (n.*1698C>G)
c.*752C>G (n.*752C>G)
c.3124C>G (p.Leu1042Val)
c.138C>G
c.3103C>G (p.Leu1035Val)
n.1940C>G
c.1702C>G (p.Leu568Val)
c.2011C>G (p.Leu671Val)
n.3048C>G
dbSNP
16g.47698568C>TCA495361495PHKBc.*1698C>T (n.*1698C>T)
c.*752C>T (n.*752C>T)
c.3124C>T (p.Leu1042=)
c.138C>T
c.3103C>T (p.Leu1035=)
n.1940C>T
c.1702C>T (p.Leu568=)
c.2011C>T (p.Leu671=)
n.3048C>T
gnomAD v3 gnomAD v4
16g.47698569T>ACA396101678PHKBc.*1699T>A (n.*1699T>A)
c.*753T>A (n.*753T>A)
c.3125T>A (p.Leu1042Gln)
c.139T>A
c.3104T>A (p.Leu1035Gln)
n.1941T>A
c.1703T>A (p.Leu568Gln)
c.2012T>A (p.Leu671Gln)
n.3049T>A
gnomAD v4
16g.47698569T>CCA280739876PHKBc.*1699T>C (n.*1699T>C)
c.*753T>C (n.*753T>C)
c.3125T>C (p.Leu1042Pro)
c.139T>C
c.3104T>C (p.Leu1035Pro)
n.1941T>C
c.1703T>C (p.Leu568Pro)
c.2012T>C (p.Leu671Pro)
n.3049T>C
dbSNP gnomAD v4
16g.47698569T>GCA396101679PHKBc.*1699T>G (n.*1699T>G)
c.*753T>G (n.*753T>G)
c.3125T>G (p.Leu1042Arg)
c.139T>G
c.3104T>G (p.Leu1035Arg)
n.1941T>G
c.1703T>G (p.Leu568Arg)
c.2012T>G (p.Leu671Arg)
n.3049T>G
16g.47698569T=CA2220493579PHKBc.*1699T= (n.*1699T=)
c.*753T= (n.*753T=)
c.3125T= (p.Leu1042=)
c.139T=
c.3104T= (p.Leu1035=)
n.1941T=
c.1703T= (p.Leu568=)
c.2012T= (p.Leu671=)
n.3049T=
16g.47698570A>CCA495361496PHKBc.*1700A>C (n.*1700A>C)
c.*754A>C (n.*754A>C)
c.3126A>C (p.Leu1042=)
c.140A>C
c.3105A>C (p.Leu1035=)
n.1942A>C
c.1704A>C (p.Leu568=)
c.2013A>C (p.Leu671=)
n.3050A>C
16g.47698570A>GCA495361497PHKBc.*1700A>G (n.*1700A>G)
c.*754A>G (n.*754A>G)
c.3126A>G (p.Leu1042=)
c.140A>G
c.3105A>G (p.Leu1035=)
n.1942A>G
c.1704A>G (p.Leu568=)
c.2013A>G (p.Leu671=)
n.3050A>G
16g.47698570A>TCA495361498PHKBc.*1700A>T (n.*1700A>T)
c.*754A>T (n.*754A>T)
c.3126A>T (p.Leu1042=)
c.140A>T
c.3105A>T (p.Leu1035=)
n.1942A>T
c.1704A>T (p.Leu568=)
c.2013A>T (p.Leu671=)
n.3050A>T
16g.47698572delCA2633050215PHKBc.*1702del (n.*1702del)
c.*756del (n.*756del)
c.3128del (p.Lys1043ArgfsTer9)
c.142del
c.3107del (p.Lys1036ArgfsTer9)
n.1944del
c.1706del (p.Lys569ArgfsTer9)
c.2015del (p.Lys672ArgfsTer9)
n.3052del
gnomAD v4
16g.47698571A=CA2220493580PHKBc.*1701A= (n.*1701A=)
c.*755A= (n.*755A=)
c.3127A= (p.Lys1043=)
c.141A=
c.3106A= (p.Lys1036=)
n.1943A=
c.1705A= (p.Lys569=)
c.2014A= (p.Lys672=)
n.3051A=
16g.47698571A>CCA396101682PHKBc.*1701A>C (n.*1701A>C)
c.*755A>C (n.*755A>C)
c.3127A>C (p.Lys1043Gln)
c.141A>C
c.3106A>C (p.Lys1036Gln)
n.1943A>C
c.1705A>C (p.Lys569Gln)
c.2014A>C (p.Lys672Gln)
n.3051A>C
gnomAD v4
16g.47698571A>GCA396101680PHKBc.*1701A>G (n.*1701A>G)
c.*755A>G (n.*755A>G)
c.3127A>G (p.Lys1043Glu)
c.141A>G
c.3106A>G (p.Lys1036Glu)
n.1943A>G
c.1705A>G (p.Lys569Glu)
c.2014A>G (p.Lys672Glu)
n.3051A>G
dbSNP gnomAD v2 gnomAD v4
16g.47698571A>TCA396101681PHKBc.*1701A>T (n.*1701A>T)
c.*755A>T (n.*755A>T)
c.3127A>T (p.Lys1043Ter)
c.141A>T
c.3106A>T (p.Lys1036Ter)
n.1943A>T
c.1705A>T (p.Lys569Ter)
c.2014A>T (p.Lys672Ter)
n.3051A>T
16g.47698572A>CCA396101683PHKBc.*1702A>C (n.*1702A>C)
c.*756A>C (n.*756A>C)
c.3128A>C (p.Lys1043Thr)
c.142A>C
c.3107A>C (p.Lys1036Thr)
n.1944A>C
c.1706A>C (p.Lys569Thr)
c.2015A>C (p.Lys672Thr)
n.3052A>C
16g.47698572A>GCA396101684PHKBc.*1702A>G (n.*1702A>G)
c.*756A>G (n.*756A>G)
c.3128A>G (p.Lys1043Arg)
c.142A>G
c.3107A>G (p.Lys1036Arg)
n.1944A>G
c.1706A>G (p.Lys569Arg)
c.2015A>G (p.Lys672Arg)
n.3052A>G
16g.47698572A>TCA396101685PHKBc.*1702A>T (n.*1702A>T)
c.*756A>T (n.*756A>T)
c.3128A>T (p.Lys1043Met)
c.142A>T
c.3107A>T (p.Lys1036Met)
n.1944A>T
c.1706A>T (p.Lys569Met)
c.2015A>T (p.Lys672Met)
n.3052A>T
16g.47698573G>ACA495361499PHKBc.*1703G>A (n.*1703G>A)
c.*757G>A (n.*757G>A)
c.3129G>A (p.Lys1043=)
c.143G>A
c.3108G>A (p.Lys1036=)
n.1945G>A
c.1707G>A (p.Lys569=)
c.2016G>A (p.Lys672=)
n.3053G>A
gnomAD v3 gnomAD v4
16g.47698573G>CCA396101686PHKBc.*1703G>C (n.*1703G>C)
c.*757G>C (n.*757G>C)
c.3129G>C (p.Lys1043Asn)
c.143G>C
c.3108G>C (p.Lys1036Asn)
n.1945G>C
c.1707G>C (p.Lys569Asn)
c.2016G>C (p.Lys672Asn)
n.3053G>C
gnomAD v4
16g.47698573G>TCA396101687PHKBc.*1703G>T (n.*1703G>T)
c.*757G>T (n.*757G>T)
c.3129G>T (p.Lys1043Asn)
c.143G>T
c.3108G>T (p.Lys1036Asn)
n.1945G>T
c.1707G>T (p.Lys569Asn)
c.2016G>T (p.Lys672Asn)
n.3053G>T
gnomAD v4
16g.47698573_47698574delCA2633050216PHKBc.*1703_*1704del (n.*1703_*1704del)
c.*757_*758del (n.*757_*758del)
c.3129_3130del (p.Glu1044AsnfsTer2)
c.143_144del
c.3108_3109del (p.Glu1037AsnfsTer2)
n.1945_1946del
c.1707_1708del (p.Glu570AsnfsTer2)
c.2016_2017del (p.Glu673AsnfsTer2)
n.3053_3054del
gnomAD v4
16g.47698574G>ACA8041437PHKBc.*1704G>A (n.*1704G>A)
c.*758G>A (n.*758G>A)
c.3130G>A (p.Glu1044Lys)
c.144G>A
c.3109G>A (p.Glu1037Lys)
n.1946G>A
c.1708G>A (p.Glu570Lys)
c.2017G>A (p.Glu673Lys)
n.3054G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698574G>CCA396101689PHKBc.*1704G>C (n.*1704G>C)
c.*758G>C (n.*758G>C)
c.3130G>C (p.Glu1044Gln)
c.144G>C
c.3109G>C (p.Glu1037Gln)
n.1946G>C
c.1708G>C (p.Glu570Gln)
c.2017G>C (p.Glu673Gln)
n.3054G>C
16g.47698574G=CA2220493581PHKBc.*1704G= (n.*1704G=)
c.*758G= (n.*758G=)
c.3130G= (p.Glu1044=)
c.144G=
c.3109G= (p.Glu1037=)
n.1946G=
c.1708G= (p.Glu570=)
c.2017G= (p.Glu673=)
n.3054G=
16g.47698574G>TCA396101688PHKBc.*1704G>T (n.*1704G>T)
c.*758G>T (n.*758G>T)
c.3130G>T (p.Glu1044Ter)
c.144G>T
c.3109G>T (p.Glu1037Ter)
n.1946G>T
c.1708G>T (p.Glu570Ter)
c.2017G>T (p.Glu673Ter)
n.3054G>T
gnomAD v4
16g.47698575A=CA2220493582PHKBc.*1705A= (n.*1705A=)
c.*759A= (n.*759A=)
c.3131A= (p.Glu1044=)
c.145A=
c.3110A= (p.Glu1037=)
n.1947A=
c.1709A= (p.Glu570=)
c.2018A= (p.Glu673=)
n.3055A=
16g.47698575A>CCA396101690PHKBc.*1705A>C (n.*1705A>C)
c.*759A>C (n.*759A>C)
c.3131A>C (p.Glu1044Ala)
c.145A>C
c.3110A>C (p.Glu1037Ala)
n.1947A>C
c.1709A>C (p.Glu570Ala)
c.2018A>C (p.Glu673Ala)
n.3055A>C
16g.47698575A>GCA8041438PHKBc.*1705A>G (n.*1705A>G)
c.*759A>G (n.*759A>G)
c.3131A>G (p.Glu1044Gly)
c.145A>G
c.3110A>G (p.Glu1037Gly)
n.1947A>G
c.1709A>G (p.Glu570Gly)
c.2018A>G (p.Glu673Gly)
n.3055A>G
ClinVar dbSNP ExAC gnomAD v4
16g.47698575A>TCA396101691PHKBc.*1705A>T (n.*1705A>T)
c.*759A>T (n.*759A>T)
c.3131A>T (p.Glu1044Val)
c.145A>T
c.3110A>T (p.Glu1037Val)
n.1947A>T
c.1709A>T (p.Glu570Val)
c.2018A>T (p.Glu673Val)
n.3055A>T
16g.47698576A>CCA396101692PHKBc.*1706A>C (n.*1706A>C)
c.*760A>C (n.*760A>C)
c.3132A>C (p.Glu1044Asp)
c.146A>C
c.3111A>C (p.Glu1037Asp)
n.1948A>C
c.1710A>C (p.Glu570Asp)
c.2019A>C (p.Glu673Asp)
n.3056A>C
16g.47698576A>GCA495361500PHKBc.*1706A>G (n.*1706A>G)
c.*760A>G (n.*760A>G)
c.3132A>G (p.Glu1044=)
c.146A>G
c.3111A>G (p.Glu1037=)
n.1948A>G
c.1710A>G (p.Glu570=)
c.2019A>G (p.Glu673=)
n.3056A>G
16g.47698576A>TCA396101693PHKBc.*1706A>T (n.*1706A>T)
c.*760A>T (n.*760A>T)
c.3132A>T (p.Glu1044Asp)
c.146A>T
c.3111A>T (p.Glu1037Asp)
n.1948A>T
c.1710A>T (p.Glu570Asp)
c.2019A>T (p.Glu673Asp)
n.3056A>T
16g.47698577A=CA2220493583PHKBc.*1707A= (n.*1707A=)
c.*761A= (n.*761A=)
c.3133A= (p.Ile1045=)
c.147A=
c.3112A= (p.Ile1038=)
n.1949A=
c.1711A= (p.Ile571=)
c.2020A= (p.Ile674=)
n.3057A=
16g.47698577A>CCA396101694PHKBc.*1707A>C (n.*1707A>C)
c.*761A>C (n.*761A>C)
c.3133A>C (p.Ile1045Leu)
c.147A>C
c.3112A>C (p.Ile1038Leu)
n.1949A>C
c.1711A>C (p.Ile571Leu)
c.2020A>C (p.Ile674Leu)
n.3057A>C
16g.47698577A>GCA396101695PHKBc.*1707A>G (n.*1707A>G)
c.*761A>G (n.*761A>G)
c.3133A>G (p.Ile1045Val)
c.147A>G
c.3112A>G (p.Ile1038Val)
n.1949A>G
c.1711A>G (p.Ile571Val)
c.2020A>G (p.Ile674Val)
n.3057A>G
dbSNP gnomAD v3 gnomAD v4
16g.47698577A>TCA396101696PHKBc.*1707A>T (n.*1707A>T)
c.*761A>T (n.*761A>T)
c.3133A>T (p.Ile1045Phe)
c.147A>T
c.3112A>T (p.Ile1038Phe)
n.1949A>T
c.1711A>T (p.Ile571Phe)
c.2020A>T (p.Ile674Phe)
n.3057A>T
16g.47698578T>ACA396101697PHKBc.*1708T>A (n.*1708T>A)
c.*762T>A (n.*762T>A)
c.3134T>A (p.Ile1045Asn)
c.148T>A
c.3113T>A (p.Ile1038Asn)
n.1950T>A
c.1712T>A (p.Ile571Asn)
c.2021T>A (p.Ile674Asn)
n.3058T>A
gnomAD v3 gnomAD v4
16g.47698578T>CCA8041439PHKBc.*1708T>C (n.*1708T>C)
c.*762T>C (n.*762T>C)
c.3134T>C (p.Ile1045Thr)
c.148T>C
c.3113T>C (p.Ile1038Thr)
n.1950T>C
c.1712T>C (p.Ile571Thr)
c.2021T>C (p.Ile674Thr)
n.3058T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698578T>GCA396101698PHKBc.*1708T>G (n.*1708T>G)
c.*762T>G (n.*762T>G)
c.3134T>G (p.Ile1045Ser)
c.148T>G
c.3113T>G (p.Ile1038Ser)
n.1950T>G
c.1712T>G (p.Ile571Ser)
c.2021T>G (p.Ile674Ser)
n.3058T>G
16g.47698578T=CA2220493584PHKBc.*1708T= (n.*1708T=)
c.*762T= (n.*762T=)
c.3134T= (p.Ile1045=)
c.148T=
c.3113T= (p.Ile1038=)
n.1950T=
c.1712T= (p.Ile571=)
c.2021T= (p.Ile674=)
n.3058T=
16g.47698579T>ACA495361502PHKBc.*1709T>A (n.*1709T>A)
c.*763T>A (n.*763T>A)
c.3135T>A (p.Ile1045=)
c.149T>A
c.3114T>A (p.Ile1038=)
n.1951T>A
c.1713T>A (p.Ile571=)
c.2022T>A (p.Ile674=)
n.3059T>A
gnomAD v3 gnomAD v4
16g.47698579T>CCA495361501PHKBc.*1709T>C (n.*1709T>C)
c.*763T>C (n.*763T>C)
c.3135T>C (p.Ile1045=)
c.149T>C
c.3114T>C (p.Ile1038=)
n.1951T>C
c.1713T>C (p.Ile571=)
c.2022T>C (p.Ile674=)
n.3059T>C
16g.47698579T>GCA396101699PHKBc.*1709T>G (n.*1709T>G)
c.*763T>G (n.*763T>G)
c.3135T>G (p.Ile1045Met)
c.149T>G
c.3114T>G (p.Ile1038Met)
n.1951T>G
c.1713T>G (p.Ile571Met)
c.2022T>G (p.Ile674Met)
n.3059T>G
16g.47698580_47698590delCA2575984643PHKBc.*1710_*1718+2del
c.*764_*772+2del
c.3136_3144+2del
c.150_158+2del
c.3115_3123+2del
n.1952_1960+2del
c.1714_1722+2del
c.2023_2031+2del
n.3060_3068+2del
16g.47698580G>ACA396101701PHKBc.*1710G>A (n.*1710G>A)
c.*764G>A (n.*764G>A)
c.3136G>A (p.Glu1046Lys)
c.150G>A
c.3115G>A (p.Glu1039Lys)
n.1952G>A
c.1714G>A (p.Glu572Lys)
c.2023G>A (p.Glu675Lys)
n.3060G>A
dbSNP gnomAD v3 gnomAD v4
16g.47698580G>CCA396101702PHKBc.*1710G>C (n.*1710G>C)
c.*764G>C (n.*764G>C)
c.3136G>C (p.Glu1046Gln)
c.150G>C
c.3115G>C (p.Glu1039Gln)
n.1952G>C
c.1714G>C (p.Glu572Gln)
c.2023G>C (p.Glu675Gln)
n.3060G>C
16g.47698580G=CA2220493585PHKBc.*1710G= (n.*1710G=)
c.*764G= (n.*764G=)
c.3136G= (p.Glu1046=)
c.150G=
c.3115G= (p.Glu1039=)
n.1952G=
c.1714G= (p.Glu572=)
c.2023G= (p.Glu675=)
n.3060G=
16g.47698580G>TCA396101700PHKBc.*1710G>T (n.*1710G>T)
c.*764G>T (n.*764G>T)
c.3136G>T (p.Glu1046Ter)
c.150G>T
c.3115G>T (p.Glu1039Ter)
n.1952G>T
c.1714G>T (p.Glu572Ter)
c.2023G>T (p.Glu675Ter)
n.3060G>T
dbSNP gnomAD v3 gnomAD v4
16g.47698581A>CCA396101704PHKBc.*1711A>C (n.*1711A>C)
c.*765A>C (n.*765A>C)
c.3137A>C (p.Glu1046Ala)
c.151A>C
c.3116A>C (p.Glu1039Ala)
n.1953A>C
c.1715A>C (p.Glu572Ala)
c.2024A>C (p.Glu675Ala)
n.3061A>C
16g.47698581A>GCA396101703PHKBc.*1711A>G (n.*1711A>G)
c.*765A>G (n.*765A>G)
c.3137A>G (p.Glu1046Gly)
c.151A>G
c.3116A>G (p.Glu1039Gly)
n.1953A>G
c.1715A>G (p.Glu572Gly)
c.2024A>G (p.Glu675Gly)
n.3061A>G
16g.47698581A>TCA396101705PHKBc.*1711A>T (n.*1711A>T)
c.*765A>T (n.*765A>T)
c.3137A>T (p.Glu1046Val)
c.151A>T
c.3116A>T (p.Glu1039Val)
n.1953A>T
c.1715A>T (p.Glu572Val)
c.2024A>T (p.Glu675Val)
n.3061A>T
16g.47698582A>CCA396101706PHKBc.*1712A>C (n.*1712A>C)
c.*766A>C (n.*766A>C)
c.3138A>C (p.Glu1046Asp)
c.152A>C
c.3117A>C (p.Glu1039Asp)
n.1954A>C
c.1716A>C (p.Glu572Asp)
c.2025A>C (p.Glu675Asp)
n.3062A>C
16g.47698582A>GCA495361503PHKBc.*1712A>G (n.*1712A>G)
c.*766A>G (n.*766A>G)
c.3138A>G (p.Glu1046=)
c.152A>G
c.3117A>G (p.Glu1039=)
n.1954A>G
c.1716A>G (p.Glu572=)
c.2025A>G (p.Glu675=)
n.3062A>G
16g.47698582A>TCA396101707PHKBc.*1712A>T (n.*1712A>T)
c.*766A>T (n.*766A>T)
c.3138A>T (p.Glu1046Asp)
c.152A>T
c.3117A>T (p.Glu1039Asp)
n.1954A>T
c.1716A>T (p.Glu572Asp)
c.2025A>T (p.Glu675Asp)
n.3062A>T
16g.47698582_47698586delinsAAAACCA2220493586PHKBc.*1712_*1716delinsAAAAC (n.*1712_*1716delinsAAAAC)
c.*766_*770delinsAAAAC (n.*766_*770delinsAAAAC)
c.3138_3142delinsAAAAC (p.Glu1046=)
c.152_156delinsAAAAC
c.3117_3121delinsAAAAC (p.Glu1039=)
n.1954_1958delinsAAAAC
c.1716_1720delinsAAAAC (p.Glu572=)
c.2025_2029delinsAAAAC (p.Glu675=)
n.3062_3066delinsAAAAC
16g.47698583A>CCA396101708PHKBc.*1713A>C (n.*1713A>C)
c.*767A>C (n.*767A>C)
c.3139A>C (p.Lys1047Gln)
c.153A>C
c.3118A>C (p.Lys1040Gln)
n.1955A>C
c.1717A>C (p.Lys573Gln)
c.2026A>C (p.Lys676Gln)
n.3063A>C
16g.47698583A>GCA396101709PHKBc.*1713A>G (n.*1713A>G)
c.*767A>G (n.*767A>G)
c.3139A>G (p.Lys1047Glu)
c.153A>G
c.3118A>G (p.Lys1040Glu)
n.1955A>G
c.1717A>G (p.Lys573Glu)
c.2026A>G (p.Lys676Glu)
n.3063A>G
16g.47698583A>TCA396101710PHKBc.*1713A>T (n.*1713A>T)
c.*767A>T (n.*767A>T)
c.3139A>T (p.Lys1047Ter)
c.153A>T
c.3118A>T (p.Lys1040Ter)
n.1955A>T
c.1717A>T (p.Lys573Ter)
c.2026A>T (p.Lys676Ter)
n.3063A>T
16g.47698585_47698588delCA8041440PHKBc.*1715_*1718del (n.*1715_*1718del)
c.*769_*772del (n.*769_*772del)
c.3141_3144del (p.Gln1048MetfsTer3)
c.155_158del
c.3120_3123del (p.Gln1041MetfsTer3)
n.1957_1960del
c.1719_1722del (p.Gln574MetfsTer3)
c.2028_2031del (p.Gln677MetfsTer3)
n.3065_3068del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698584A>CCA396101711PHKBc.*1714A>C (n.*1714A>C)
c.*768A>C (n.*768A>C)
c.3140A>C (p.Lys1047Thr)
c.154A>C
c.3119A>C (p.Lys1040Thr)
n.1956A>C
c.1718A>C (p.Lys573Thr)
c.2027A>C (p.Lys676Thr)
n.3064A>C
16g.47698584A>GCA396101712PHKBc.*1714A>G (n.*1714A>G)
c.*768A>G (n.*768A>G)
c.3140A>G (p.Lys1047Arg)
c.154A>G
c.3119A>G (p.Lys1040Arg)
n.1956A>G
c.1718A>G (p.Lys573Arg)
c.2027A>G (p.Lys676Arg)
n.3064A>G
gnomAD v4
16g.47698584A>TCA396101713PHKBc.*1714A>T (n.*1714A>T)
c.*768A>T (n.*768A>T)
c.3140A>T (p.Lys1047Ile)
c.154A>T
c.3119A>T (p.Lys1040Ile)
n.1956A>T
c.1718A>T (p.Lys573Ile)
c.2027A>T (p.Lys676Ile)
n.3064A>T
16g.47698585A=CA2220493587PHKBc.*1715A= (n.*1715A=)
c.*769A= (n.*769A=)
c.3141A= (p.Lys1047=)
c.155A=
c.3120A= (p.Lys1040=)
n.1957A=
c.1719A= (p.Lys573=)
c.2028A= (p.Lys676=)
n.3065A=
16g.47698585A>CCA396101714PHKBc.*1715A>C (n.*1715A>C)
c.*769A>C (n.*769A>C)
c.3141A>C (p.Lys1047Asn)
c.155A>C
c.3120A>C (p.Lys1040Asn)
n.1957A>C
c.1719A>C (p.Lys573Asn)
c.2028A>C (p.Lys676Asn)
n.3065A>C
16g.47698585A>GCA495361504PHKBc.*1715A>G (n.*1715A>G)
c.*769A>G (n.*769A>G)
c.3141A>G (p.Lys1047=)
c.155A>G
c.3120A>G (p.Lys1040=)
n.1957A>G
c.1719A>G (p.Lys573=)
c.2028A>G (p.Lys676=)
n.3065A>G
16g.47698585A>TCA396101715PHKBc.*1715A>T (n.*1715A>T)
c.*769A>T (n.*769A>T)
c.3141A>T (p.Lys1047Asn)
c.155A>T
c.3120A>T (p.Lys1040Asn)
n.1957A>T
c.1719A>T (p.Lys573Asn)
c.2028A>T (p.Lys676Asn)
n.3065A>T
16g.47698586C>ACA8041442PHKBc.*1716C>A (n.*1716C>A)
c.*770C>A (n.*770C>A)
c.3142C>A (p.Gln1048Lys)
c.156C>A
c.3121C>A (p.Gln1041Lys)
n.1958C>A
c.1720C>A (p.Gln574Lys)
c.2029C>A (p.Gln677Lys)
n.3066C>A
dbSNP ExAC gnomAD v3 gnomAD v4
16g.47698586C=CA2220493589PHKBc.*1716C= (n.*1716C=)
c.*770C= (n.*770C=)
c.3142C= (p.Gln1048=)
c.156C=
c.3121C= (p.Gln1041=)
n.1958C=
c.1720C= (p.Gln574=)
c.2029C= (p.Gln677=)
n.3066C=
16g.47698586C>GCA396101717PHKBc.*1716C>G (n.*1716C>G)
c.*770C>G (n.*770C>G)
c.3142C>G (p.Gln1048Glu)
c.156C>G
c.3121C>G (p.Gln1041Glu)
n.1958C>G
c.1720C>G (p.Gln574Glu)
c.2029C>G (p.Gln677Glu)
n.3066C>G
16g.47698586C>TCA396101716PHKBc.*1716C>T (n.*1716C>T)
c.*770C>T (n.*770C>T)
c.3142C>T (p.Gln1048Ter)
c.156C>T
c.3121C>T (p.Gln1041Ter)
n.1958C>T
c.1720C>T (p.Gln574Ter)
c.2029C>T (p.Gln677Ter)
n.3066C>T
dbSNP gnomAD v4
16g.47698586dupCA8041441PHKBc.*1716dup (n.*1716dup)
c.*770dup (n.*770dup)
c.3142dup (p.Gln1048ProfsTer3)
c.156dup
c.3121dup (p.Gln1041ProfsTer3)
n.1958dup
c.1720dup (p.Gln574ProfsTer3)
c.2029dup (p.Gln677ProfsTer3)
n.3066dup
dbSNP ExAC gnomAD v2 gnomAD v4
16g.47698586_47698590delinsCAAGTCA2220493588PHKBc.*1716_*1718+2delinsCAAGT
c.*770_*772+2delinsCAAGT
c.3142_3144+2delinsCAAGT
c.156_158+2delinsCAAGT
c.3121_3123+2delinsCAAGT
n.1958_1960+2delinsCAAGT
c.1720_1722+2delinsCAAGT
c.2029_2031+2delinsCAAGT
n.3066_3068+2delinsCAAGT
16g.47698587A>CCA396101718PHKBc.*1717A>C (n.*1717A>C)
c.*771A>C (n.*771A>C)
c.3143A>C (p.Gln1048Pro)
c.157A>C
c.3122A>C (p.Gln1041Pro)
n.1959A>C
c.1721A>C (p.Gln574Pro)
c.2030A>C (p.Gln677Pro)
n.3067A>C
16g.47698587A>GCA396101719PHKBc.*1717A>G (n.*1717A>G)
c.*771A>G (n.*771A>G)
c.3143A>G (p.Gln1048Arg)
c.157A>G
c.3122A>G (p.Gln1041Arg)
n.1959A>G
c.1721A>G (p.Gln574Arg)
c.2030A>G (p.Gln677Arg)
n.3067A>G
16g.47698587A>TCA396101720PHKBc.*1717A>T (n.*1717A>T)
c.*771A>T (n.*771A>T)
c.3143A>T (p.Gln1048Leu)
c.157A>T
c.3122A>T (p.Gln1041Leu)
n.1959A>T
c.1721A>T (p.Gln574Leu)
c.2030A>T (p.Gln677Leu)
n.3067A>T
16g.47698592_47698595delCA2220493590PHKBc.*1718+4_*1718+7del
c.*772+4_*772+7del
c.3144+4_3144+7del
c.158+4_158+7del
c.3123+4_3123+7del
n.1960+4_1960+7del
c.1722+4_1722+7del
c.2031+4_2031+7del
n.3068+4_3068+7del
dbSNP
16g.47698588A=CA2220493591PHKBc.*1718A= (n.*1718A=)
c.*772A= (n.*772A=)
c.3144A= (p.Gln1048=)
c.158A=
c.3123A= (p.Gln1041=)
n.1960A=
c.1722A= (p.Gln574=)
c.2031A= (p.Gln677=)
n.3068A=
16g.47698588A>CCA396101721PHKBc.*1718A>C (n.*1718A>C)
c.*772A>C (n.*772A>C)
c.3144A>C (p.Gln1048His)
c.158A>C
c.3123A>C (p.Gln1041His)
n.1960A>C
c.1722A>C (p.Gln574His)
c.2031A>C (p.Gln677His)
n.3068A>C
16g.47698588A>GCA495361505PHKBc.*1718A>G (n.*1718A>G)
c.*772A>G (n.*772A>G)
c.3144A>G (p.Gln1048=)
c.158A>G
c.3123A>G (p.Gln1041=)
n.1960A>G
c.1722A>G (p.Gln574=)
c.2031A>G (p.Gln677=)
n.3068A>G
dbSNP
16g.47698588A>TCA396101722PHKBc.*1718A>T (n.*1718A>T)
c.*772A>T (n.*772A>T)
c.3144A>T (p.Gln1048His)
c.158A>T
c.3123A>T (p.Gln1041His)
n.1960A>T
c.1722A>T (p.Gln574His)
c.2031A>T (p.Gln677His)
n.3068A>T
16g.47698589G>ACA396101723PHKBc.*1718+1G>A (n.*1718+1G>A)
c.*772+1G>A (n.*772+1G>A)
c.3144+1G>A (n.3144+1G>A)
c.158+1G>A
c.3123+1G>A (n.3123+1G>A)
n.1960+1G>A
c.1722+1G>A (n.1722+1G>A)
c.2031+1G>A (n.2031+1G>A)
n.3068+1G>A
gnomAD v4
16g.47698589G>CCA396101724PHKBc.*1718+1G>C (n.*1718+1G>C)
c.*772+1G>C (n.*772+1G>C)
c.3144+1G>C (n.3144+1G>C)
c.158+1G>C
c.3123+1G>C (n.3123+1G>C)
n.1960+1G>C
c.1722+1G>C (n.1722+1G>C)
c.2031+1G>C (n.2031+1G>C)
n.3068+1G>C
dbSNP gnomAD v2 gnomAD v4
16g.47698589G=CA2220493592PHKBc.*1718+1G= (n.*1718+1G=)
c.*772+1G= (n.*772+1G=)
c.3144+1G= (n.3144+1G=)
c.158+1G=
c.3123+1G= (n.3123+1G=)
n.1960+1G=
c.1722+1G= (n.1722+1G=)
c.2031+1G= (n.2031+1G=)
n.3068+1G=
16g.47698589G>TCA396101725PHKBc.*1718+1G>T (n.*1718+1G>T)
c.*772+1G>T (n.*772+1G>T)
c.3144+1G>T (n.3144+1G>T)
c.158+1G>T
c.3123+1G>T (n.3123+1G>T)
n.1960+1G>T
c.1722+1G>T (n.1722+1G>T)
c.2031+1G>T (n.2031+1G>T)
n.3068+1G>T
dbSNP gnomAD v3 gnomAD v4
16g.47698589_47698590insACA2732291158PHKBc.*1718+1_*1718+2insA (n.*1718+1_*1718+2insA)
c.*772+1_*772+2insA (n.*772+1_*772+2insA)
c.3144+1_3144+2insA (n.3144+1_3144+2insA)
c.158+1_158+2insA
c.3123+1_3123+2insA (n.3123+1_3123+2insA)
n.1960+1_1960+2insA
c.1722+1_1722+2insA (n.1722+1_1722+2insA)
c.2031+1_2031+2insA (n.2031+1_2031+2insA)
n.3068+1_3068+2insA
dbSNP
16g.47698590T>ACA396101726PHKBc.*1718+2T>A (n.*1718+2T>A)
c.*772+2T>A (n.*772+2T>A)
c.3144+2T>A (n.3144+2T>A)
c.158+2T>A
c.3123+2T>A (n.3123+2T>A)
n.1960+2T>A
c.1722+2T>A (n.1722+2T>A)
c.2031+2T>A (n.2031+2T>A)
n.3068+2T>A
gnomAD v4
16g.47698590T>CCA396101727PHKBc.*1718+2T>C (n.*1718+2T>C)
c.*772+2T>C (n.*772+2T>C)
c.3144+2T>C (n.3144+2T>C)
c.158+2T>C
c.3123+2T>C (n.3123+2T>C)
n.1960+2T>C
c.1722+2T>C (n.1722+2T>C)
c.2031+2T>C (n.2031+2T>C)
n.3068+2T>C
16g.47698590T>GCA396101728PHKBc.*1718+2T>G (n.*1718+2T>G)
c.*772+2T>G (n.*772+2T>G)
c.3144+2T>G (n.3144+2T>G)
c.158+2T>G
c.3123+2T>G (n.3123+2T>G)
n.1960+2T>G
c.1722+2T>G (n.1722+2T>G)
c.2031+2T>G (n.2031+2T>G)
n.3068+2T>G
16g.47698590dupCA2633050217PHKBc.*1718+2dup (n.*1718+2dup)
c.*772+2dup (n.*772+2dup)
c.3144+2dup (n.3144+2dup)
c.158+2dup
c.3123+2dup (n.3123+2dup)
n.1960+2dup
c.1722+2dup (n.1722+2dup)
c.2031+2dup (n.2031+2dup)
n.3068+2dup
gnomAD v4
16g.47698590_47698591insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAACA2732291160PHKBc.*1718+2_*1718+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.*1718+2_*1718+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA)
c.*772+2_*772+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.*772+2_*772+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA)
c.3144+2_3144+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.3144+2_3144+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA)
c.158+2_158+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA
c.3123+2_3123+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.3123+2_3123+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA)
n.1960+2_1960+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA
c.1722+2_1722+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.1722+2_1722+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA)
c.2031+2_2031+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.2031+2_2031+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA)
n.3068+2_3068+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA
dbSNP
16g.47698591A>TCA2575984644PHKBc.*1718+3A>T (n.*1718+3A>T)
c.*772+3A>T (n.*772+3A>T)
c.3144+3A>T (n.3144+3A>T)
c.158+3A>T
c.3123+3A>T (n.3123+3A>T)
n.1960+3A>T
c.1722+3A>T (n.1722+3A>T)
c.2031+3A>T (n.2031+3A>T)
n.3068+3A>T
16g.47698592A>CCA2633050218PHKBc.*1718+4A>C (n.*1718+4A>C)
c.*772+4A>C (n.*772+4A>C)
c.3144+4A>C (n.3144+4A>C)
c.158+4A>C
c.3123+4A>C (n.3123+4A>C)
n.1960+4A>C
c.1722+4A>C (n.1722+4A>C)
c.2031+4A>C (n.2031+4A>C)
n.3068+4A>C
gnomAD v4
16g.47698593G>ACA2633050219PHKBc.*1718+5G>A (n.*1718+5G>A)
c.*772+5G>A (n.*772+5G>A)
c.3144+5G>A (n.3144+5G>A)
c.158+5G>A
c.3123+5G>A (n.3123+5G>A)
n.1960+5G>A
c.1722+5G>A (n.1722+5G>A)
c.2031+5G>A (n.2031+5G>A)
n.3068+5G>A
gnomAD v4
16g.47698593G>CCA2594981285PHKBc.*1718+5G>C (n.*1718+5G>C)
c.*772+5G>C (n.*772+5G>C)
c.3144+5G>C (n.3144+5G>C)
c.158+5G>C
c.3123+5G>C (n.3123+5G>C)
n.1960+5G>C
c.1722+5G>C (n.1722+5G>C)
c.2031+5G>C (n.2031+5G>C)
n.3068+5G>C
gnomAD v3 gnomAD v4
16g.47698593G>TCA977062713PHKBc.*1718+5G>T (n.*1718+5G>T)
c.*772+5G>T (n.*772+5G>T)
c.3144+5G>T (n.3144+5G>T)
c.158+5G>T
c.3123+5G>T (n.3123+5G>T)
n.1960+5G>T
c.1722+5G>T (n.1722+5G>T)
c.2031+5G>T (n.2031+5G>T)
n.3068+5G>T
gnomAD v3 gnomAD v4
16g.47698593_47698594delCA2806912478PHKBc.*1718+5_*1718+6del (n.*1718+5_*1718+6del)
c.*772+5_*772+6del (n.*772+5_*772+6del)
c.3144+5_3144+6del (n.3144+5_3144+6del)
c.158+5_158+6del
c.3123+5_3123+6del (n.3123+5_3123+6del)
n.1960+5_1960+6del
c.1722+5_1722+6del (n.1722+5_1722+6del)
c.2031+5_2031+6del (n.2031+5_2031+6del)
n.3068+5_3068+6del
16g.47698594T>ACA2633050222PHKBc.*1718+6T>A (n.*1718+6T>A)
c.*772+6T>A (n.*772+6T>A)
c.3144+6T>A (n.3144+6T>A)
c.158+6T>A
c.3123+6T>A (n.3123+6T>A)
n.1960+6T>A
c.1722+6T>A (n.1722+6T>A)
c.2031+6T>A (n.2031+6T>A)
n.3068+6T>A
gnomAD v4
16g.47698594T>CCA2633050221PHKBc.*1718+6T>C (n.*1718+6T>C)
c.*772+6T>C (n.*772+6T>C)
c.3144+6T>C (n.3144+6T>C)
c.158+6T>C
c.3123+6T>C (n.3123+6T>C)
n.1960+6T>C
c.1722+6T>C (n.1722+6T>C)
c.2031+6T>C (n.2031+6T>C)
n.3068+6T>C
gnomAD v4
16g.47698594T>GCA2633050220PHKBc.*1718+6T>G (n.*1718+6T>G)
c.*772+6T>G (n.*772+6T>G)
c.3144+6T>G (n.3144+6T>G)
c.158+6T>G
c.3123+6T>G (n.3123+6T>G)
n.1960+6T>G
c.1722+6T>G (n.1722+6T>G)
c.2031+6T>G (n.2031+6T>G)
n.3068+6T>G
gnomAD v4
16g.47698595A=CA2220493593PHKBc.*1718+7A= (n.*1718+7A=)
c.*772+7A= (n.*772+7A=)
c.3144+7A= (n.3144+7A=)
c.158+7A=
c.3123+7A= (n.3123+7A=)
n.1960+7A=
c.1722+7A= (n.1722+7A=)
c.2031+7A= (n.2031+7A=)
n.3068+7A=
16g.47698595A>CCA2633050223PHKBc.*1718+7A>C (n.*1718+7A>C)
c.*772+7A>C (n.*772+7A>C)
c.3144+7A>C (n.3144+7A>C)
c.158+7A>C
c.3123+7A>C (n.3123+7A>C)
n.1960+7A>C
c.1722+7A>C (n.1722+7A>C)
c.2031+7A>C (n.2031+7A>C)
n.3068+7A>C
gnomAD v4
16g.47698595A>GCA8041443PHKBc.*1718+7A>G (n.*1718+7A>G)
c.*772+7A>G (n.*772+7A>G)
c.3144+7A>G (n.3144+7A>G)
c.158+7A>G
c.3123+7A>G (n.3123+7A>G)
n.1960+7A>G
c.1722+7A>G (n.1722+7A>G)
c.2031+7A>G (n.2031+7A>G)
n.3068+7A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.47698595A>TCA2633050224PHKBc.*1718+7A>T (n.*1718+7A>T)
c.*772+7A>T (n.*772+7A>T)
c.3144+7A>T (n.3144+7A>T)
c.158+7A>T
c.3123+7A>T (n.3123+7A>T)
n.1960+7A>T
c.1722+7A>T (n.1722+7A>T)
c.2031+7A>T (n.2031+7A>T)
n.3068+7A>T
gnomAD v4
16g.47698596C>ACA977062758PHKBc.*1718+8C>A (n.*1718+8C>A)
c.*772+8C>A (n.*772+8C>A)
c.3144+8C>A (n.3144+8C>A)
c.158+8C>A
c.3123+8C>A (n.3123+8C>A)
n.1960+8C>A
c.1722+8C>A (n.1722+8C>A)
c.2031+8C>A (n.2031+8C>A)
n.3068+8C>A
dbSNP gnomAD v3 gnomAD v4
16g.47698596C=CA2220493594PHKBc.*1718+8C= (n.*1718+8C=)
c.*772+8C= (n.*772+8C=)
c.3144+8C= (n.3144+8C=)
c.158+8C=
c.3123+8C= (n.3123+8C=)
n.1960+8C=
c.1722+8C= (n.1722+8C=)
c.2031+8C= (n.2031+8C=)
n.3068+8C=
16g.47698597A=CA2220493595PHKBc.*1718+9A= (n.*1718+9A=)
c.*772+9A= (n.*772+9A=)
c.3144+9A= (n.3144+9A=)
c.158+9A=
c.3123+9A= (n.3123+9A=)
n.1960+9A=
c.1722+9A= (n.1722+9A=)
c.2031+9A= (n.2031+9A=)
n.3068+9A=
16g.47698597A>CCA8041444PHKBc.*1718+9A>C (n.*1718+9A>C)
c.*772+9A>C (n.*772+9A>C)
c.3144+9A>C (n.3144+9A>C)
c.158+9A>C
c.3123+9A>C (n.3123+9A>C)
n.1960+9A>C
c.1722+9A>C (n.1722+9A>C)
c.2031+9A>C (n.2031+9A>C)
n.3068+9A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698597A>GCA622395942PHKBc.*1718+9A>G (n.*1718+9A>G)
c.*772+9A>G (n.*772+9A>G)
c.3144+9A>G (n.3144+9A>G)
c.158+9A>G
c.3123+9A>G (n.3123+9A>G)
n.1960+9A>G
c.1722+9A>G (n.1722+9A>G)
c.2031+9A>G (n.2031+9A>G)
n.3068+9A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.47698598C>ACA977062786PHKBc.*1718+10C>A (n.*1718+10C>A)
c.*772+10C>A (n.*772+10C>A)
c.3144+10C>A (n.3144+10C>A)
c.158+10C>A
c.3123+10C>A (n.3123+10C>A)
n.1960+10C>A
c.1722+10C>A (n.1722+10C>A)
c.2031+10C>A (n.2031+10C>A)
n.3068+10C>A
dbSNP gnomAD v3 gnomAD v4
16g.47698598C=CA2220493596PHKBc.*1718+10C= (n.*1718+10C=)
c.*772+10C= (n.*772+10C=)
c.3144+10C= (n.3144+10C=)
c.158+10C=
c.3123+10C= (n.3123+10C=)
n.1960+10C=
c.1722+10C= (n.1722+10C=)
c.2031+10C= (n.2031+10C=)
n.3068+10C=
16g.47698598C>TCA2633050225PHKBc.*1718+10C>T (n.*1718+10C>T)
c.*772+10C>T (n.*772+10C>T)
c.3144+10C>T (n.3144+10C>T)
c.158+10C>T
c.3123+10C>T (n.3123+10C>T)
n.1960+10C>T
c.1722+10C>T (n.1722+10C>T)
c.2031+10C>T (n.2031+10C>T)
n.3068+10C>T
gnomAD v4
16g.47698599A=CA2220493598PHKBc.*1718+11A= (n.*1718+11A=)
c.*772+11A= (n.*772+11A=)
c.3144+11A= (n.3144+11A=)
c.158+11A=
c.3123+11A= (n.3123+11A=)
n.1960+11A=
c.1722+11A= (n.1722+11A=)
c.2031+11A= (n.2031+11A=)
n.3068+11A=
16g.47698599A>CCA2633050226PHKBc.*1718+11A>C (n.*1718+11A>C)
c.*772+11A>C (n.*772+11A>C)
c.3144+11A>C (n.3144+11A>C)
c.158+11A>C
c.3123+11A>C (n.3123+11A>C)
n.1960+11A>C
c.1722+11A>C (n.1722+11A>C)
c.2031+11A>C (n.2031+11A>C)
n.3068+11A>C
gnomAD v4
16g.47698599A>GCA2633050228PHKBc.*1718+11A>G (n.*1718+11A>G)
c.*772+11A>G (n.*772+11A>G)
c.3144+11A>G (n.3144+11A>G)
c.158+11A>G
c.3123+11A>G (n.3123+11A>G)
n.1960+11A>G
c.1722+11A>G (n.1722+11A>G)
c.2031+11A>G (n.2031+11A>G)
n.3068+11A>G
ClinVar gnomAD v4
16g.47698599A>TCA2633050227PHKBc.*1718+11A>T (n.*1718+11A>T)
c.*772+11A>T (n.*772+11A>T)
c.3144+11A>T (n.3144+11A>T)
c.158+11A>T
c.3123+11A>T (n.3123+11A>T)
n.1960+11A>T
c.1722+11A>T (n.1722+11A>T)
c.2031+11A>T (n.2031+11A>T)
n.3068+11A>T
gnomAD v4
16g.47698599_47698600delCA2633050229PHKBc.*1718+11_*1718+12del (n.*1718+11_*1718+12del)
c.*772+11_*772+12del (n.*772+11_*772+12del)
c.3144+11_3144+12del (n.3144+11_3144+12del)
c.158+11_158+12del
c.3123+11_3123+12del (n.3123+11_3123+12del)
n.1960+11_1960+12del
c.1722+11_1722+12del (n.1722+11_1722+12del)
c.2031+11_2031+12del (n.2031+11_2031+12del)
n.3068+11_3068+12del
gnomAD v4
16g.47698599_47698601delinsAGCCA2220493597PHKBc.*1718+11_*1718+13delinsAGC (n.*1718+11_*1718+13delinsAGC)
c.*772+11_*772+13delinsAGC (n.*772+11_*772+13delinsAGC)
c.3144+11_3144+13delinsAGC (n.3144+11_3144+13delinsAGC)
c.158+11_158+13delinsAGC
c.3123+11_3123+13delinsAGC (n.3123+11_3123+13delinsAGC)
n.1960+11_1960+13delinsAGC
c.1722+11_1722+13delinsAGC (n.1722+11_1722+13delinsAGC)
c.2031+11_2031+13delinsAGC (n.2031+11_2031+13delinsAGC)
n.3068+11_3068+13delinsAGC
16g.47698600delCA2575984645PHKBc.*1718+12del (n.*1718+12del)
c.*772+12del (n.*772+12del)
c.3144+12del (n.3144+12del)
c.158+12del
c.3123+12del (n.3123+12del)
n.1960+12del
c.1722+12del (n.1722+12del)
c.2031+12del (n.2031+12del)
n.3068+12del
gnomAD v4
16g.47698600G>ACA2633050230PHKBc.*1718+12G>A (n.*1718+12G>A)
c.*772+12G>A (n.*772+12G>A)
c.3144+12G>A (n.3144+12G>A)
c.158+12G>A
c.3123+12G>A (n.3123+12G>A)
n.1960+12G>A
c.1722+12G>A (n.1722+12G>A)
c.2031+12G>A (n.2031+12G>A)
n.3068+12G>A
gnomAD v4
16g.47698600G>CCA2633050231PHKBc.*1718+12G>C (n.*1718+12G>C)
c.*772+12G>C (n.*772+12G>C)
c.3144+12G>C (n.3144+12G>C)
c.158+12G>C
c.3123+12G>C (n.3123+12G>C)
n.1960+12G>C
c.1722+12G>C (n.1722+12G>C)
c.2031+12G>C (n.2031+12G>C)
n.3068+12G>C
gnomAD v4
16g.47698600G=CA2220493599PHKBc.*1718+12G= (n.*1718+12G=)
c.*772+12G= (n.*772+12G=)
c.3144+12G= (n.3144+12G=)
c.158+12G=
c.3123+12G= (n.3123+12G=)
n.1960+12G=
c.1722+12G= (n.1722+12G=)
c.2031+12G= (n.2031+12G=)
n.3068+12G=
16g.47698600G>TCA622395943PHKBc.*1718+12G>T (n.*1718+12G>T)
c.*772+12G>T (n.*772+12G>T)
c.3144+12G>T (n.3144+12G>T)
c.158+12G>T
c.3123+12G>T (n.3123+12G>T)
n.1960+12G>T
c.1722+12G>T (n.1722+12G>T)
c.2031+12G>T (n.2031+12G>T)
n.3068+12G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.47698600dupCA10643682PHKBc.*1718+12dup (n.*1718+12dup)
c.*772+12dup (n.*772+12dup)
c.3144+12dup (n.3144+12dup)
c.158+12dup
c.3123+12dup (n.3123+12dup)
n.1960+12dup
c.1722+12dup (n.1722+12dup)
c.2031+12dup (n.2031+12dup)
n.3068+12dup
ClinVar dbSNP
16g.47698600_47698601delCA8041445PHKBc.*1718+12_*1718+13del (n.*1718+12_*1718+13del)
c.*772+12_*772+13del (n.*772+12_*772+13del)
c.3144+12_3144+13del (n.3144+12_3144+13del)
c.158+12_158+13del
c.3123+12_3123+13del (n.3123+12_3123+13del)
n.1960+12_1960+13del
c.1722+12_1722+13del (n.1722+12_1722+13del)
c.2031+12_2031+13del (n.2031+12_2031+13del)
n.3068+12_3068+13del
dbSNP ExAC gnomAD v3 gnomAD v4
16g.47698600_47698601insACA8041447PHKBc.*1718+12_*1718+13insA (n.*1718+12_*1718+13insA)
c.*772+12_*772+13insA (n.*772+12_*772+13insA)
c.3144+12_3144+13insA (n.3144+12_3144+13insA)
c.158+12_158+13insA
c.3123+12_3123+13insA (n.3123+12_3123+13insA)
n.1960+12_1960+13insA
c.1722+12_1722+13insA (n.1722+12_1722+13insA)
c.2031+12_2031+13insA (n.2031+12_2031+13insA)
n.3068+12_3068+13insA
dbSNP ExAC gnomAD v3 gnomAD v4
16g.47698600_47698601insTCA10637827PHKBc.*1718+12_*1718+13insT (n.*1718+12_*1718+13insT)
c.*772+12_*772+13insT (n.*772+12_*772+13insT)
c.3144+12_3144+13insT (n.3144+12_3144+13insT)
c.158+12_158+13insT
c.3123+12_3123+13insT (n.3123+12_3123+13insT)
n.1960+12_1960+13insT
c.1722+12_1722+13insT (n.1722+12_1722+13insT)
c.2031+12_2031+13insT (n.2031+12_2031+13insT)
n.3068+12_3068+13insT
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.47698600_47698601insATCA2575984646PHKBc.*1718+12_*1718+13insAT (n.*1718+12_*1718+13insAT)
c.*772+12_*772+13insAT (n.*772+12_*772+13insAT)
c.3144+12_3144+13insAT (n.3144+12_3144+13insAT)
c.158+12_158+13insAT
c.3123+12_3123+13insAT (n.3123+12_3123+13insAT)
n.1960+12_1960+13insAT
c.1722+12_1722+13insAT (n.1722+12_1722+13insAT)
c.2031+12_2031+13insAT (n.2031+12_2031+13insAT)
n.3068+12_3068+13insAT
gnomAD v4
16g.47698600_47698601insGCCA396101729PHKBc.*1718+12_*1718+13insGC (n.*1718+12_*1718+13insGC)
c.*772+12_*772+13insGC (n.*772+12_*772+13insGC)
c.3144+12_3144+13insGC (n.3144+12_3144+13insGC)
c.158+12_158+13insGC
c.3123+12_3123+13insGC (n.3123+12_3123+13insGC)
n.1960+12_1960+13insGC
c.1722+12_1722+13insGC (n.1722+12_1722+13insGC)
c.2031+12_2031+13insGC (n.2031+12_2031+13insGC)
n.3068+12_3068+13insGC
16g.47698600_47698601insTTCA622395949PHKBc.*1718+12_*1718+13insTT (n.*1718+12_*1718+13insTT)
c.*772+12_*772+13insTT (n.*772+12_*772+13insTT)
c.3144+12_3144+13insTT (n.3144+12_3144+13insTT)
c.158+12_158+13insTT
c.3123+12_3123+13insTT (n.3123+12_3123+13insTT)
n.1960+12_1960+13insTT
c.1722+12_1722+13insTT (n.1722+12_1722+13insTT)
c.2031+12_2031+13insTT (n.2031+12_2031+13insTT)
n.3068+12_3068+13insTT
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.47698600_47698601insATTCA2633050237PHKBc.*1718+12_*1718+13insATT (n.*1718+12_*1718+13insATT)
c.*772+12_*772+13insATT (n.*772+12_*772+13insATT)
c.3144+12_3144+13insATT (n.3144+12_3144+13insATT)
c.158+12_158+13insATT
c.3123+12_3123+13insATT (n.3123+12_3123+13insATT)
n.1960+12_1960+13insATT
c.1722+12_1722+13insATT (n.1722+12_1722+13insATT)
c.2031+12_2031+13insATT (n.2031+12_2031+13insATT)
n.3068+12_3068+13insATT
gnomAD v4
16g.47698600_47698601insTTTCA622395947PHKBc.*1718+12_*1718+13insTTT (n.*1718+12_*1718+13insTTT)
c.*772+12_*772+13insTTT (n.*772+12_*772+13insTTT)
c.3144+12_3144+13insTTT (n.3144+12_3144+13insTTT)
c.158+12_158+13insTTT
c.3123+12_3123+13insTTT (n.3123+12_3123+13insTTT)
n.1960+12_1960+13insTTT
c.1722+12_1722+13insTTT (n.1722+12_1722+13insTTT)
c.2031+12_2031+13insTTT (n.2031+12_2031+13insTTT)
n.3068+12_3068+13insTTT
gnomAD v2 gnomAD v3 gnomAD v4
16g.47698600_47698601insATTTCA2633050236PHKBc.*1718+12_*1718+13insATTT (n.*1718+12_*1718+13insATTT)
c.*772+12_*772+13insATTT (n.*772+12_*772+13insATTT)
c.3144+12_3144+13insATTT (n.3144+12_3144+13insATTT)
c.158+12_158+13insATTT
c.3123+12_3123+13insATTT (n.3123+12_3123+13insATTT)
n.1960+12_1960+13insATTT
c.1722+12_1722+13insATTT (n.1722+12_1722+13insATTT)
c.2031+12_2031+13insATTT (n.2031+12_2031+13insATTT)
n.3068+12_3068+13insATTT
gnomAD v4
16g.47698600_47698601insTTTTCA622395945PHKBc.*1718+12_*1718+13insTTTT (n.*1718+12_*1718+13insTTTT)
c.*772+12_*772+13insTTTT (n.*772+12_*772+13insTTTT)
c.3144+12_3144+13insTTTT (n.3144+12_3144+13insTTTT)
c.158+12_158+13insTTTT
c.3123+12_3123+13insTTTT (n.3123+12_3123+13insTTTT)
n.1960+12_1960+13insTTTT
c.1722+12_1722+13insTTTT (n.1722+12_1722+13insTTTT)
c.2031+12_2031+13insTTTT (n.2031+12_2031+13insTTTT)
n.3068+12_3068+13insTTTT
gnomAD v2 gnomAD v4
16g.47698600_47698601insTTTTTCA2633050232PHKBc.*1718+12_*1718+13insTTTTT (n.*1718+12_*1718+13insTTTTT)
c.*772+12_*772+13insTTTTT (n.*772+12_*772+13insTTTTT)
c.3144+12_3144+13insTTTTT (n.3144+12_3144+13insTTTTT)
c.158+12_158+13insTTTTT
c.3123+12_3123+13insTTTTT (n.3123+12_3123+13insTTTTT)
n.1960+12_1960+13insTTTTT
c.1722+12_1722+13insTTTTT (n.1722+12_1722+13insTTTTT)
c.2031+12_2031+13insTTTTT (n.2031+12_2031+13insTTTTT)
n.3068+12_3068+13insTTTTT
gnomAD v4
16g.47698600_47698601insTTTTTTCA2633050233PHKBc.*1718+12_*1718+13insTTTTTT (n.*1718+12_*1718+13insTTTTTT)
c.*772+12_*772+13insTTTTTT (n.*772+12_*772+13insTTTTTT)
c.3144+12_3144+13insTTTTTT (n.3144+12_3144+13insTTTTTT)
c.158+12_158+13insTTTTTT
c.3123+12_3123+13insTTTTTT (n.3123+12_3123+13insTTTTTT)
n.1960+12_1960+13insTTTTTT
c.1722+12_1722+13insTTTTTT (n.1722+12_1722+13insTTTTTT)
c.2031+12_2031+13insTTTTTT (n.2031+12_2031+13insTTTTTT)
n.3068+12_3068+13insTTTTTT
gnomAD v4
16g.47698601delCA2633050234PHKBc.*1718+13del (n.*1718+13del)
c.*772+13del (n.*772+13del)
c.3144+13del (n.3144+13del)
c.158+13del
c.3123+13del (n.3123+13del)
n.1960+13del
c.1722+13del (n.1722+13del)
c.2031+13del (n.2031+13del)
n.3068+13del
gnomAD v4
16g.47698601C>ACA977062818PHKBc.*1718+13C>A (n.*1718+13C>A)
c.*772+13C>A (n.*772+13C>A)
c.3144+13C>A (n.3144+13C>A)
c.158+13C>A
c.3123+13C>A (n.3123+13C>A)
n.1960+13C>A
c.1722+13C>A (n.1722+13C>A)
c.2031+13C>A (n.2031+13C>A)
n.3068+13C>A
gnomAD v3 gnomAD v4
16g.47698601C=CA2220493601PHKBc.*1718+13C= (n.*1718+13C=)
c.*772+13C= (n.*772+13C=)
c.3144+13C= (n.3144+13C=)
c.158+13C=
c.3123+13C= (n.3123+13C=)
n.1960+13C=
c.1722+13C= (n.1722+13C=)
c.2031+13C= (n.2031+13C=)
n.3068+13C=
16g.47698601C>TCA721060103PHKBc.*1718+13C>T (n.*1718+13C>T)
c.*772+13C>T (n.*772+13C>T)
c.3144+13C>T (n.3144+13C>T)
c.158+13C>T
c.3123+13C>T (n.3123+13C>T)
n.1960+13C>T
c.1722+13C>T (n.1722+13C>T)
c.2031+13C>T (n.2031+13C>T)
n.3068+13C>T
dbSNP gnomAD v3 gnomAD v4
16g.47698601dupCA495361506PHKBc.*1718+13dup (n.*1718+13dup)
c.*772+13dup (n.*772+13dup)
c.3144+13dup (n.3144+13dup)
c.158+13dup
c.3123+13dup (n.3123+13dup)
n.1960+13dup
c.1722+13dup (n.1722+13dup)
c.2031+13dup (n.2031+13dup)
n.3068+13dup
16g.47698601_47698602delCA2633050235PHKBc.*1718+13_*1718+14del (n.*1718+13_*1718+14del)
c.*772+13_*772+14del (n.*772+13_*772+14del)
c.3144+13_3144+14del (n.3144+13_3144+14del)
c.158+13_158+14del
c.3123+13_3123+14del (n.3123+13_3123+14del)
n.1960+13_1960+14del
c.1722+13_1722+14del (n.1722+13_1722+14del)
c.2031+13_2031+14del (n.2031+13_2031+14del)
n.3068+13_3068+14del
gnomAD v4
16g.47698601_47698605dupCA8041446PHKBc.*1718+13_*1718+17dup (n.*1718+13_*1718+17dup)
c.*772+13_*772+17dup (n.*772+13_*772+17dup)
c.3144+13_3144+17dup (n.3144+13_3144+17dup)
c.158+13_158+17dup
c.3123+13_3123+17dup (n.3123+13_3123+17dup)
n.1960+13_1960+17dup
c.1722+13_1722+17dup (n.1722+13_1722+17dup)
c.2031+13_2031+17dup (n.2031+13_2031+17dup)
n.3068+13_3068+17dup
dbSNP ExAC
16g.47698601_47698612delinsCTTTTTTTTTTTCA2220493600PHKBc.*1718+13_*1718+24delinsCTTTTTTTTTTT (n.*1718+13_*1718+24delinsCTTTTTTTTTTT)
c.*772+13_*772+24delinsCTTTTTTTTTTT (n.*772+13_*772+24delinsCTTTTTTTTTTT)
c.3144+13_3144+24delinsCTTTTTTTTTTT (n.3144+13_3144+24delinsCTTTTTTTTTTT)
c.158+13_158+24delinsCTTTTTTTTTTT
c.3123+13_3123+24delinsCTTTTTTTTTTT (n.3123+13_3123+24delinsCTTTTTTTTTTT)
n.1960+13_1960+24delinsCTTTTTTTTTTT
c.1722+13_1722+24delinsCTTTTTTTTTTT (n.1722+13_1722+24delinsCTTTTTTTTTTT)
c.2031+13_2031+24delinsCTTTTTTTTTTT (n.2031+13_2031+24delinsCTTTTTTTTTTT)
n.3068+13_3068+24delinsCTTTTTTTTTTT
16g.47698601_47698602insACA977063059PHKBc.*1718+13_*1718+14insA (n.*1718+13_*1718+14insA)
c.*772+13_*772+14insA (n.*772+13_*772+14insA)
c.3144+13_3144+14insA (n.3144+13_3144+14insA)
c.158+13_158+14insA
c.3123+13_3123+14insA (n.3123+13_3123+14insA)
n.1960+13_1960+14insA
c.1722+13_1722+14insA (n.1722+13_1722+14insA)
c.2031+13_2031+14insA (n.2031+13_2031+14insA)
n.3068+13_3068+14insA
dbSNP gnomAD v3 gnomAD v4
16g.47698601_47698602insGCA2806912481PHKBc.*1718+13_*1718+14insG (n.*1718+13_*1718+14insG)
c.*772+13_*772+14insG (n.*772+13_*772+14insG)
c.3144+13_3144+14insG (n.3144+13_3144+14insG)
c.158+13_158+14insG
c.3123+13_3123+14insG (n.3123+13_3123+14insG)
n.1960+13_1960+14insG
c.1722+13_1722+14insG (n.1722+13_1722+14insG)
c.2031+13_2031+14insG (n.2031+13_2031+14insG)
n.3068+13_3068+14insG
16g.47698601_47698602insATCA2633050255PHKBc.*1718+13_*1718+14insAT (n.*1718+13_*1718+14insAT)
c.*772+13_*772+14insAT (n.*772+13_*772+14insAT)
c.3144+13_3144+14insAT (n.3144+13_3144+14insAT)
c.158+13_158+14insAT
c.3123+13_3123+14insAT (n.3123+13_3123+14insAT)
n.1960+13_1960+14insAT
c.1722+13_1722+14insAT (n.1722+13_1722+14insAT)
c.2031+13_2031+14insAT (n.2031+13_2031+14insAT)
n.3068+13_3068+14insAT
gnomAD v4
16g.47698601_47698602insCTCA2633050260PHKBc.*1718+13_*1718+14insCT (n.*1718+13_*1718+14insCT)
c.*772+13_*772+14insCT (n.*772+13_*772+14insCT)
c.3144+13_3144+14insCT (n.3144+13_3144+14insCT)
c.158+13_158+14insCT
c.3123+13_3123+14insCT (n.3123+13_3123+14insCT)
n.1960+13_1960+14insCT
c.1722+13_1722+14insCT (n.1722+13_1722+14insCT)
c.2031+13_2031+14insCT (n.2031+13_2031+14insCT)
n.3068+13_3068+14insCT
gnomAD v4
16g.47698601_47698602insATTCA2633050256PHKBc.*1718+13_*1718+14insATT (n.*1718+13_*1718+14insATT)
c.*772+13_*772+14insATT (n.*772+13_*772+14insATT)
c.3144+13_3144+14insATT (n.3144+13_3144+14insATT)
c.158+13_158+14insATT
c.3123+13_3123+14insATT (n.3123+13_3123+14insATT)
n.1960+13_1960+14insATT
c.1722+13_1722+14insATT (n.1722+13_1722+14insATT)
c.2031+13_2031+14insATT (n.2031+13_2031+14insATT)
n.3068+13_3068+14insATT
gnomAD v4
16g.47698601_47698602insCCTCA2633050257PHKBc.*1718+13_*1718+14insCCT (n.*1718+13_*1718+14insCCT)
c.*772+13_*772+14insCCT (n.*772+13_*772+14insCCT)
c.3144+13_3144+14insCCT (n.3144+13_3144+14insCCT)
c.158+13_158+14insCCT
c.3123+13_3123+14insCCT (n.3123+13_3123+14insCCT)
n.1960+13_1960+14insCCT
c.1722+13_1722+14insCCT (n.1722+13_1722+14insCCT)
c.2031+13_2031+14insCCT (n.2031+13_2031+14insCCT)
n.3068+13_3068+14insCCT
gnomAD v4
16g.47698601_47698602insCCTTCA2633050258PHKBc.*1718+13_*1718+14insCCTT (n.*1718+13_*1718+14insCCTT)
c.*772+13_*772+14insCCTT (n.*772+13_*772+14insCCTT)
c.3144+13_3144+14insCCTT (n.3144+13_3144+14insCCTT)
c.158+13_158+14insCCTT
c.3123+13_3123+14insCCTT (n.3123+13_3123+14insCCTT)
n.1960+13_1960+14insCCTT
c.1722+13_1722+14insCCTT (n.1722+13_1722+14insCCTT)
c.2031+13_2031+14insCCTT (n.2031+13_2031+14insCCTT)
n.3068+13_3068+14insCCTT
gnomAD v4
16g.47698601_47698602insCCTTTCA2633050259PHKBc.*1718+13_*1718+14insCCTTT (n.*1718+13_*1718+14insCCTTT)
c.*772+13_*772+14insCCTTT (n.*772+13_*772+14insCCTTT)
c.3144+13_3144+14insCCTTT (n.3144+13_3144+14insCCTTT)
c.158+13_158+14insCCTTT
c.3123+13_3123+14insCCTTT (n.3123+13_3123+14insCCTTT)
n.1960+13_1960+14insCCTTT
c.1722+13_1722+14insCCTTT (n.1722+13_1722+14insCCTTT)
c.2031+13_2031+14insCCTTT (n.2031+13_2031+14insCCTTT)
n.3068+13_3068+14insCCTTT
gnomAD v4
16g.47698601_47698602insGTTTTCA2633050261PHKBc.*1718+13_*1718+14insGTTTT (n.*1718+13_*1718+14insGTTTT)
c.*772+13_*772+14insGTTTT (n.*772+13_*772+14insGTTTT)
c.3144+13_3144+14insGTTTT (n.3144+13_3144+14insGTTTT)
c.158+13_158+14insGTTTT
c.3123+13_3123+14insGTTTT (n.3123+13_3123+14insGTTTT)
n.1960+13_1960+14insGTTTT
c.1722+13_1722+14insGTTTT (n.1722+13_1722+14insGTTTT)
c.2031+13_2031+14insGTTTT (n.2031+13_2031+14insGTTTT)
n.3068+13_3068+14insGTTTT
gnomAD v4
16g.47698602T>ACA2633050253PHKBc.*1718+14T>A (n.*1718+14T>A)
c.*772+14T>A (n.*772+14T>A)
c.3144+14T>A (n.3144+14T>A)
c.158+14T>A
c.3123+14T>A (n.3123+14T>A)
n.1960+14T>A
c.1722+14T>A (n.1722+14T>A)
c.2031+14T>A (n.2031+14T>A)
n.3068+14T>A
gnomAD v4
16g.47698602T>CCA2633050254PHKBc.*1718+14T>C (n.*1718+14T>C)
c.*772+14T>C (n.*772+14T>C)
c.3144+14T>C (n.3144+14T>C)
c.158+14T>C
c.3123+14T>C (n.3123+14T>C)
n.1960+14T>C
c.1722+14T>C (n.1722+14T>C)
c.2031+14T>C (n.2031+14T>C)
n.3068+14T>C
gnomAD v4
16g.47698602_47698603insCTTTCA2633050262PHKBc.*1718+14_*1718+15insCTTT (n.*1718+14_*1718+15insCTTT)
c.*772+14_*772+15insCTTT (n.*772+14_*772+15insCTTT)
c.3144+14_3144+15insCTTT (n.3144+14_3144+15insCTTT)
c.158+14_158+15insCTTT
c.3123+14_3123+15insCTTT (n.3123+14_3123+15insCTTT)
n.1960+14_1960+15insCTTT
c.1722+14_1722+15insCTTT (n.1722+14_1722+15insCTTT)
c.2031+14_2031+15insCTTT (n.2031+14_2031+15insCTTT)
n.3068+14_3068+15insCTTT
gnomAD v4
16g.47698602_47698603insGTTTTCA2633050263PHKBc.*1718+14_*1718+15insGTTTT (n.*1718+14_*1718+15insGTTTT)
c.*772+14_*772+15insGTTTT (n.*772+14_*772+15insGTTTT)
c.3144+14_3144+15insGTTTT (n.3144+14_3144+15insGTTTT)
c.158+14_158+15insGTTTT
c.3123+14_3123+15insGTTTT (n.3123+14_3123+15insGTTTT)
n.1960+14_1960+15insGTTTT
c.1722+14_1722+15insGTTTT (n.1722+14_1722+15insGTTTT)
c.2031+14_2031+15insGTTTT (n.2031+14_2031+15insGTTTT)
n.3068+14_3068+15insGTTTT
gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTCA2633050248PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTCA2633050247PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTCA2633050246PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTCA2499664425PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTT
16g.47698622_47698623insTTTTATTTTTTTTTTTTTTTTTTTTTTTTCA977063110PHKBc.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA977063089PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTGTATTTTTTTTTTTTTTTTTTTTTTTTCA977063125PHKBc.*1718+34_*1718+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTCA977063116PHKBc.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA977063086PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTCA2633050244PHKBc.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA977063096PHKBc.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
dbSNP gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2633050240PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA2633050241PHKBc.*1718+34_*1718+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2806912479PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
16g.47698622_47698623insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2806912480PHKBc.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT
16g.47698622_47698623insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2633050242PHKBc.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2633050239PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2633050245PHKBc.*1718+34_*1718+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2594981287PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA977063036PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA977063003PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA977062998PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA977063004PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA977063011PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTCA977062997PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTCA977062962PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
dbSNP gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTCA977062953PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTCA977062952PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA2741483895PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA977062944PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA977063000PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTTCA977062932PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTCA977063038PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTCA977063014PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTTCA2633050243PHKBc.*1718+34_*1718+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4
16g.47698622_47698623insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTTCA977063117PHKBc.*1718+34_*1718+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT
dbSNP gnomAD v3 gnomAD v4
16g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA977063008PHKBc.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v3 gnomAD v4
16g.47698622dupCA8041450PHKBc.*1718+34dup (n.*1718+34dup)
c.*772+34dup (n.*772+34dup)
c.3144+34dup (n.3144+34dup)
c.158+34dup
c.3123+34dup (n.3123+34dup)
n.1960+34dup
c.1722+34dup (n.1722+34dup)
c.2031+34dup (n.2031+34dup)
n.3068+34dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698621_47698622dupCA8041448PHKBc.*1718+33_*1718+34dup (n.*1718+33_*1718+34dup)
c.*772+33_*772+34dup (n.*772+33_*772+34dup)
c.3144+33_3144+34dup (n.3144+33_3144+34dup)
c.158+33_158+34dup
c.3123+33_3123+34dup (n.3123+33_3123+34dup)
n.1960+33_1960+34dup
c.1722+33_1722+34dup (n.1722+33_1722+34dup)
c.2031+33_2031+34dup (n.2031+33_2031+34dup)
n.3068+33_3068+34dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698620_47698622dupCA8041451PHKBc.*1718+32_*1718+34dup (n.*1718+32_*1718+34dup)
c.*772+32_*772+34dup (n.*772+32_*772+34dup)
c.3144+32_3144+34dup (n.3144+32_3144+34dup)
c.158+32_158+34dup
c.3123+32_3123+34dup (n.3123+32_3123+34dup)
n.1960+32_1960+34dup
c.1722+32_1722+34dup (n.1722+32_1722+34dup)
c.2031+32_2031+34dup (n.2031+32_2031+34dup)
n.3068+32_3068+34dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698619_47698622dupCA8041452PHKBc.*1718+31_*1718+34dup (n.*1718+31_*1718+34dup)
c.*772+31_*772+34dup (n.*772+31_*772+34dup)
c.3144+31_3144+34dup (n.3144+31_3144+34dup)
c.158+31_158+34dup
c.3123+31_3123+34dup (n.3123+31_3123+34dup)
n.1960+31_1960+34dup
c.1722+31_1722+34dup (n.1722+31_1722+34dup)
c.2031+31_2031+34dup (n.2031+31_2031+34dup)
n.3068+31_3068+34dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698618_47698622dupCA622395962PHKBc.*1718+30_*1718+34dup (n.*1718+30_*1718+34dup)
c.*772+30_*772+34dup (n.*772+30_*772+34dup)
c.3144+30_3144+34dup (n.3144+30_3144+34dup)
c.158+30_158+34dup
c.3123+30_3123+34dup (n.3123+30_3123+34dup)
n.1960+30_1960+34dup
c.1722+30_1722+34dup (n.1722+30_1722+34dup)
c.2031+30_2031+34dup (n.2031+30_2031+34dup)
n.3068+30_3068+34dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.47698617_47698622dupCA977063068PHKBc.*1718+29_*1718+34dup (n.*1718+29_*1718+34dup)
c.*772+29_*772+34dup (n.*772+29_*772+34dup)
c.3144+29_3144+34dup (n.3144+29_3144+34dup)
c.158+29_158+34dup
c.3123+29_3123+34dup (n.3123+29_3123+34dup)
n.1960+29_1960+34dup
c.1722+29_1722+34dup (n.1722+29_1722+34dup)
c.2031+29_2031+34dup (n.2031+29_2031+34dup)
n.3068+29_3068+34dup
dbSNP gnomAD v3 gnomAD v4
16g.47698616_47698622dupCA977063072PHKBc.*1718+28_*1718+34dup (n.*1718+28_*1718+34dup)
c.*772+28_*772+34dup (n.*772+28_*772+34dup)
c.3144+28_3144+34dup (n.3144+28_3144+34dup)
c.158+28_158+34dup
c.3123+28_3123+34dup (n.3123+28_3123+34dup)
n.1960+28_1960+34dup
c.1722+28_1722+34dup (n.1722+28_1722+34dup)
c.2031+28_2031+34dup (n.2031+28_2031+34dup)
n.3068+28_3068+34dup
dbSNP gnomAD v3 gnomAD v4
16g.47698615_47698622dupCA977063075PHKBc.*1718+27_*1718+34dup (n.*1718+27_*1718+34dup)
c.*772+27_*772+34dup (n.*772+27_*772+34dup)
c.3144+27_3144+34dup (n.3144+27_3144+34dup)
c.158+27_158+34dup
c.3123+27_3123+34dup (n.3123+27_3123+34dup)
n.1960+27_1960+34dup
c.1722+27_1722+34dup (n.1722+27_1722+34dup)
c.2031+27_2031+34dup (n.2031+27_2031+34dup)
n.3068+27_3068+34dup
gnomAD v3 gnomAD v4
16g.47698614_47698622dupCA977063078PHKBc.*1718+26_*1718+34dup (n.*1718+26_*1718+34dup)
c.*772+26_*772+34dup (n.*772+26_*772+34dup)
c.3144+26_3144+34dup (n.3144+26_3144+34dup)
c.158+26_158+34dup
c.3123+26_3123+34dup (n.3123+26_3123+34dup)
n.1960+26_1960+34dup
c.1722+26_1722+34dup (n.1722+26_1722+34dup)
c.2031+26_2031+34dup (n.2031+26_2031+34dup)
n.3068+26_3068+34dup
gnomAD v3 gnomAD v4
16g.47698613_47698622dupCA2633050264PHKBc.*1718+25_*1718+34dup (n.*1718+25_*1718+34dup)
c.*772+25_*772+34dup (n.*772+25_*772+34dup)
c.3144+25_3144+34dup (n.3144+25_3144+34dup)
c.158+25_158+34dup
c.3123+25_3123+34dup (n.3123+25_3123+34dup)
n.1960+25_1960+34dup
c.1722+25_1722+34dup (n.1722+25_1722+34dup)
c.2031+25_2031+34dup (n.2031+25_2031+34dup)
n.3068+25_3068+34dup
gnomAD v4
16g.47698612_47698622dupCA2633050265PHKBc.*1718+24_*1718+34dup (n.*1718+24_*1718+34dup)
c.*772+24_*772+34dup (n.*772+24_*772+34dup)
c.3144+24_3144+34dup (n.3144+24_3144+34dup)
c.158+24_158+34dup
c.3123+24_3123+34dup (n.3123+24_3123+34dup)
n.1960+24_1960+34dup
c.1722+24_1722+34dup (n.1722+24_1722+34dup)
c.2031+24_2031+34dup (n.2031+24_2031+34dup)
n.3068+24_3068+34dup
gnomAD v4
16g.47698611_47698622dupCA2633050266PHKBc.*1718+23_*1718+34dup (n.*1718+23_*1718+34dup)
c.*772+23_*772+34dup (n.*772+23_*772+34dup)
c.3144+23_3144+34dup (n.3144+23_3144+34dup)
c.158+23_158+34dup
c.3123+23_3123+34dup (n.3123+23_3123+34dup)
n.1960+23_1960+34dup
c.1722+23_1722+34dup (n.1722+23_1722+34dup)
c.2031+23_2031+34dup (n.2031+23_2031+34dup)
n.3068+23_3068+34dup
gnomAD v4
16g.47698610_47698622dupCA2633050267PHKBc.*1718+22_*1718+34dup (n.*1718+22_*1718+34dup)
c.*772+22_*772+34dup (n.*772+22_*772+34dup)
c.3144+22_3144+34dup (n.3144+22_3144+34dup)
c.158+22_158+34dup
c.3123+22_3123+34dup (n.3123+22_3123+34dup)
n.1960+22_1960+34dup
c.1722+22_1722+34dup (n.1722+22_1722+34dup)
c.2031+22_2031+34dup (n.2031+22_2031+34dup)
n.3068+22_3068+34dup
gnomAD v4
16g.47698609_47698622dupCA977063084PHKBc.*1718+21_*1718+34dup (n.*1718+21_*1718+34dup)
c.*772+21_*772+34dup (n.*772+21_*772+34dup)
c.3144+21_3144+34dup (n.3144+21_3144+34dup)
c.158+21_158+34dup
c.3123+21_3123+34dup (n.3123+21_3123+34dup)
n.1960+21_1960+34dup
c.1722+21_1722+34dup (n.1722+21_1722+34dup)
c.2031+21_2031+34dup (n.2031+21_2031+34dup)
n.3068+21_3068+34dup
gnomAD v3 gnomAD v4
16g.47698608_47698622dupCA2633050268PHKBc.*1718+20_*1718+34dup (n.*1718+20_*1718+34dup)
c.*772+20_*772+34dup (n.*772+20_*772+34dup)
c.3144+20_3144+34dup (n.3144+20_3144+34dup)
c.158+20_158+34dup
c.3123+20_3123+34dup (n.3123+20_3123+34dup)
n.1960+20_1960+34dup
c.1722+20_1722+34dup (n.1722+20_1722+34dup)
c.2031+20_2031+34dup (n.2031+20_2031+34dup)
n.3068+20_3068+34dup
gnomAD v4
16g.47698607_47698622dupCA977063080PHKBc.*1718+19_*1718+34dup (n.*1718+19_*1718+34dup)
c.*772+19_*772+34dup (n.*772+19_*772+34dup)
c.3144+19_3144+34dup (n.3144+19_3144+34dup)
c.158+19_158+34dup
c.3123+19_3123+34dup (n.3123+19_3123+34dup)
n.1960+19_1960+34dup
c.1722+19_1722+34dup (n.1722+19_1722+34dup)
c.2031+19_2031+34dup (n.2031+19_2031+34dup)
n.3068+19_3068+34dup
gnomAD v3 gnomAD v4
16g.47698606_47698622dupCA2633050269PHKBc.*1718+18_*1718+34dup (n.*1718+18_*1718+34dup)
c.*772+18_*772+34dup (n.*772+18_*772+34dup)
c.3144+18_3144+34dup (n.3144+18_3144+34dup)
c.158+18_158+34dup
c.3123+18_3123+34dup (n.3123+18_3123+34dup)
n.1960+18_1960+34dup
c.1722+18_1722+34dup (n.1722+18_1722+34dup)
c.2031+18_2031+34dup (n.2031+18_2031+34dup)
n.3068+18_3068+34dup
gnomAD v4
16g.47698605_47698622dupCA915940394PHKBc.*1718+17_*1718+34dup (n.*1718+17_*1718+34dup)
c.*772+17_*772+34dup (n.*772+17_*772+34dup)
c.3144+17_3144+34dup (n.3144+17_3144+34dup)
c.158+17_158+34dup
c.3123+17_3123+34dup (n.3123+17_3123+34dup)
n.1960+17_1960+34dup
c.1722+17_1722+34dup (n.1722+17_1722+34dup)
c.2031+17_2031+34dup (n.2031+17_2031+34dup)
n.3068+17_3068+34dup
gnomAD v4
16g.47698604_47698622dupCA2633050270PHKBc.*1718+16_*1718+34dup (n.*1718+16_*1718+34dup)
c.*772+16_*772+34dup (n.*772+16_*772+34dup)
c.3144+16_3144+34dup (n.3144+16_3144+34dup)
c.158+16_158+34dup
c.3123+16_3123+34dup (n.3123+16_3123+34dup)
n.1960+16_1960+34dup
c.1722+16_1722+34dup (n.1722+16_1722+34dup)
c.2031+16_2031+34dup (n.2031+16_2031+34dup)
n.3068+16_3068+34dup
gnomAD v4
16g.47698603_47698622dupCA2633050238PHKBc.*1718+15_*1718+34dup (n.*1718+15_*1718+34dup)
c.*772+15_*772+34dup (n.*772+15_*772+34dup)
c.3144+15_3144+34dup (n.3144+15_3144+34dup)
c.158+15_158+34dup
c.3123+15_3123+34dup (n.3123+15_3123+34dup)
n.1960+15_1960+34dup
c.1722+15_1722+34dup (n.1722+15_1722+34dup)
c.2031+15_2031+34dup (n.2031+15_2031+34dup)
n.3068+15_3068+34dup
gnomAD v4
16g.47698622delCA8041449PHKBc.*1718+34del (n.*1718+34del)
c.*772+34del (n.*772+34del)
c.3144+34del (n.3144+34del)
c.158+34del
c.3123+34del (n.3123+34del)
n.1960+34del
c.1722+34del (n.1722+34del)
c.2031+34del (n.2031+34del)
n.3068+34del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698621_47698622delCA8041453PHKBc.*1718+33_*1718+34del (n.*1718+33_*1718+34del)
c.*772+33_*772+34del (n.*772+33_*772+34del)
c.3144+33_3144+34del (n.3144+33_3144+34del)
c.158+33_158+34del
c.3123+33_3123+34del (n.3123+33_3123+34del)
n.1960+33_1960+34del
c.1722+33_1722+34del (n.1722+33_1722+34del)
c.2031+33_2031+34del (n.2031+33_2031+34del)
n.3068+33_3068+34del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.47698620_47698622delCA721060134PHKBc.*1718+32_*1718+34del (n.*1718+32_*1718+34del)
c.*772+32_*772+34del (n.*772+32_*772+34del)
c.3144+32_3144+34del (n.3144+32_3144+34del)
c.158+32_158+34del
c.3123+32_3123+34del (n.3123+32_3123+34del)
n.1960+32_1960+34del
c.1722+32_1722+34del (n.1722+32_1722+34del)
c.2031+32_2031+34del (n.2031+32_2031+34del)
n.3068+32_3068+34del
dbSNP gnomAD v3 gnomAD v4
16g.47698619_47698622delCA721060130PHKBc.*1718+31_*1718+34del (n.*1718+31_*1718+34del)
c.*772+31_*772+34del (n.*772+31_*772+34del)
c.3144+31_3144+34del (n.3144+31_3144+34del)
c.158+31_158+34del
c.3123+31_3123+34del (n.3123+31_3123+34del)
n.1960+31_1960+34del
c.1722+31_1722+34del (n.1722+31_1722+34del)
c.2031+31_2031+34del (n.2031+31_2031+34del)
n.3068+31_3068+34del
dbSNP gnomAD v3 gnomAD v4
16g.47698618_47698622delCA2633050249PHKBc.*1718+30_*1718+34del (n.*1718+30_*1718+34del)
c.*772+30_*772+34del (n.*772+30_*772+34del)
c.3144+30_3144+34del (n.3144+30_3144+34del)
c.158+30_158+34del
c.3123+30_3123+34del (n.3123+30_3123+34del)
n.1960+30_1960+34del
c.1722+30_1722+34del (n.1722+30_1722+34del)
c.2031+30_2031+34del (n.2031+30_2031+34del)
n.3068+30_3068+34del
gnomAD v4
16g.47698617_47698622delCA721060129PHKBc.*1718+29_*1718+34del (n.*1718+29_*1718+34del)
c.*772+29_*772+34del (n.*772+29_*772+34del)
c.3144+29_3144+34del (n.3144+29_3144+34del)
c.158+29_158+34del
c.3123+29_3123+34del (n.3123+29_3123+34del)
n.1960+29_1960+34del
c.1722+29_1722+34del (n.1722+29_1722+34del)
c.2031+29_2031+34del (n.2031+29_2031+34del)
n.3068+29_3068+34del
dbSNP gnomAD v3 gnomAD v4
16g.47698616_47698622delCA721060128PHKBc.*1718+28_*1718+34del (n.*1718+28_*1718+34del)
c.*772+28_*772+34del (n.*772+28_*772+34del)
c.3144+28_3144+34del (n.3144+28_3144+34del)
c.158+28_158+34del
c.3123+28_3123+34del (n.3123+28_3123+34del)
n.1960+28_1960+34del
c.1722+28_1722+34del (n.1722+28_1722+34del)
c.2031+28_2031+34del (n.2031+28_2031+34del)
n.3068+28_3068+34del
dbSNP gnomAD v4
16g.47698615_47698622delCA2575984647PHKBc.*1718+27_*1718+34del (n.*1718+27_*1718+34del)
c.*772+27_*772+34del (n.*772+27_*772+34del)
c.3144+27_3144+34del (n.3144+27_3144+34del)
c.158+27_158+34del
c.3123+27_3123+34del (n.3123+27_3123+34del)
n.1960+27_1960+34del
c.1722+27_1722+34del (n.1722+27_1722+34del)
c.2031+27_2031+34del (n.2031+27_2031+34del)
n.3068+27_3068+34del
gnomAD v4
16g.47698614_47698622delCA2633050250PHKBc.*1718+26_*1718+34del (n.*1718+26_*1718+34del)
c.*772+26_*772+34del (n.*772+26_*772+34del)
c.3144+26_3144+34del (n.3144+26_3144+34del)
c.158+26_158+34del
c.3123+26_3123+34del (n.3123+26_3123+34del)
n.1960+26_1960+34del
c.1722+26_1722+34del (n.1722+26_1722+34del)
c.2031+26_2031+34del (n.2031+26_2031+34del)
n.3068+26_3068+34del
gnomAD v4
16g.47698613_47698622delCA977063030PHKBc.*1718+25_*1718+34del (n.*1718+25_*1718+34del)
c.*772+25_*772+34del (n.*772+25_*772+34del)
c.3144+25_3144+34del (n.3144+25_3144+34del)
c.158+25_158+34del
c.3123+25_3123+34del (n.3123+25_3123+34del)
n.1960+25_1960+34del
c.1722+25_1722+34del (n.1722+25_1722+34del)
c.2031+25_2031+34del (n.2031+25_2031+34del)
n.3068+25_3068+34del
dbSNP gnomAD v3 gnomAD v4
16g.47698612_47698622delCA2220493602PHKBc.*1718+24_*1718+34del (n.*1718+24_*1718+34del)
c.*772+24_*772+34del (n.*772+24_*772+34del)
c.3144+24_3144+34del (n.3144+24_3144+34del)
c.158+24_158+34del
c.3123+24_3123+34del (n.3123+24_3123+34del)
n.1960+24_1960+34del
c.1722+24_1722+34del (n.1722+24_1722+34del)
c.2031+24_2031+34del (n.2031+24_2031+34del)
n.3068+24_3068+34del
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.47698611_47698622delCA2633050251PHKBc.*1718+23_*1718+34del (n.*1718+23_*1718+34del)
c.*772+23_*772+34del (n.*772+23_*772+34del)
c.3144+23_3144+34del (n.3144+23_3144+34del)
c.158+23_158+34del
c.3123+23_3123+34del (n.3123+23_3123+34del)
n.1960+23_1960+34del
c.1722+23_1722+34del (n.1722+23_1722+34del)
c.2031+23_2031+34del (n.2031+23_2031+34del)
n.3068+23_3068+34del
ClinVar gnomAD v4
16g.47698610_47698622delCA2633050252PHKBc.*1718+22_*1718+34del (n.*1718+22_*1718+34del)
c.*772+22_*772+34del (n.*772+22_*772+34del)
c.3144+22_3144+34del (n.3144+22_3144+34del)
c.158+22_158+34del
c.3123+22_3123+34del (n.3123+22_3123+34del)
n.1960+22_1960+34del
c.1722+22_1722+34del (n.1722+22_1722+34del)
c.2031+22_2031+34del (n.2031+22_2031+34del)
n.3068+22_3068+34del
gnomAD v4
16g.47698602_47698603insACA2806912484PHKBc.*1718+14_*1718+15insA (n.*1718+14_*1718+15insA)
c.*772+14_*772+15insA (n.*772+14_*772+15insA)
c.3144+14_3144+15insA (n.3144+14_3144+15insA)
c.158+14_158+15insA
c.3123+14_3123+15insA (n.3123+14_3123+15insA)
n.1960+14_1960+15insA
c.1722+14_1722+15insA (n.1722+14_1722+15insA)
c.2031+14_2031+15insA (n.2031+14_2031+15insA)
n.3068+14_3068+15insA
16g.47698602_47698603insCCA2806912485PHKBc.*1718+14_*1718+15insC (n.*1718+14_*1718+15insC)
c.*772+14_*772+15insC (n.*772+14_*772+15insC)
c.3144+14_3144+15insC (n.3144+14_3144+15insC)
c.158+14_158+15insC
c.3123+14_3123+15insC (n.3123+14_3123+15insC)
n.1960+14_1960+15insC
c.1722+14_1722+15insC (n.1722+14_1722+15insC)
c.2031+14_2031+15insC (n.2031+14_2031+15insC)
n.3068+14_3068+15insC
16g.47698602_47698603insGCA2633050271PHKBc.*1718+14_*1718+15insG (n.*1718+14_*1718+15insG)
c.*772+14_*772+15insG (n.*772+14_*772+15insG)
c.3144+14_3144+15insG (n.3144+14_3144+15insG)
c.158+14_158+15insG
c.3123+14_3123+15insG (n.3123+14_3123+15insG)
n.1960+14_1960+15insG
c.1722+14_1722+15insG (n.1722+14_1722+15insG)
c.2031+14_2031+15insG (n.2031+14_2031+15insG)
n.3068+14_3068+15insG
gnomAD v4
16g.47698603T>ACA2633050272PHKBc.*1718+15T>A (n.*1718+15T>A)
c.*772+15T>A (n.*772+15T>A)
c.3144+15T>A (n.3144+15T>A)
c.158+15T>A
c.3123+15T>A (n.3123+15T>A)
n.1960+15T>A
c.1722+15T>A (n.1722+15T>A)
c.2031+15T>A (n.2031+15T>A)
n.3068+15T>A
gnomAD v4
16g.47698603T>GCA2741483896PHKBc.*1718+15T>G (n.*1718+15T>G)
c.*772+15T>G (n.*772+15T>G)
c.3144+15T>G (n.3144+15T>G)
c.158+15T>G
c.3123+15T>G (n.3123+15T>G)
n.1960+15T>G
c.1722+15T>G (n.1722+15T>G)
c.2031+15T>G (n.2031+15T>G)
n.3068+15T>G
16g.47698604_47698605insCTTCA2806912483PHKBc.*1718+16_*1718+17insCTT (n.*1718+16_*1718+17insCTT)
c.*772+16_*772+17insCTT (n.*772+16_*772+17insCTT)
c.3144+16_3144+17insCTT (n.3144+16_3144+17insCTT)
c.158+16_158+17insCTT
c.3123+16_3123+17insCTT (n.3123+16_3123+17insCTT)
n.1960+16_1960+17insCTT
c.1722+16_1722+17insCTT (n.1722+16_1722+17insCTT)
c.2031+16_2031+17insCTT (n.2031+16_2031+17insCTT)
n.3068+16_3068+17insCTT
16g.47698605_47698606insCTTTCA2806912482PHKBc.*1718+17_*1718+18insCTTT (n.*1718+17_*1718+18insCTTT)
c.*772+17_*772+18insCTTT (n.*772+17_*772+18insCTTT)
c.3144+17_3144+18insCTTT (n.3144+17_3144+18insCTTT)
c.158+17_158+18insCTTT
c.3123+17_3123+18insCTTT (n.3123+17_3123+18insCTTT)
n.1960+17_1960+18insCTTT
c.1722+17_1722+18insCTTT (n.1722+17_1722+18insCTTT)
c.2031+17_2031+18insCTTT (n.2031+17_2031+18insCTTT)
n.3068+17_3068+18insCTTT
16g.47698604T>GCA2633050274PHKBc.*1718+16T>G (n.*1718+16T>G)
c.*772+16T>G (n.*772+16T>G)
c.3144+16T>G (n.3144+16T>G)
c.158+16T>G
c.3123+16T>G (n.3123+16T>G)
n.1960+16T>G
c.1722+16T>G (n.1722+16T>G)
c.2031+16T>G (n.2031+16T>G)
n.3068+16T>G
gnomAD v4
16g.47698604T=CA2220493603PHKBc.*1718+16T= (n.*1718+16T=)
c.*772+16T= (n.*772+16T=)
c.3144+16T= (n.3144+16T=)
c.158+16T=
c.3123+16T= (n.3123+16T=)
n.1960+16T=
c.1722+16T= (n.1722+16T=)
c.2031+16T= (n.2031+16T=)
n.3068+16T=
16g.47698605_47698606insCTTCA2633050273PHKBc.*1718+17_*1718+18insCTT (n.*1718+17_*1718+18insCTT)
c.*772+17_*772+18insCTT (n.*772+17_*772+18insCTT)
c.3144+17_3144+18insCTT (n.3144+17_3144+18insCTT)
c.158+17_158+18insCTT
c.3123+17_3123+18insCTT (n.3123+17_3123+18insCTT)
n.1960+17_1960+18insCTT
c.1722+17_1722+18insCTT (n.1722+17_1722+18insCTT)
c.2031+17_2031+18insCTT (n.2031+17_2031+18insCTT)
n.3068+17_3068+18insCTT
gnomAD v4
16g.47698605T>GCA2806912486PHKBc.*1718+17T>G (n.*1718+17T>G)
c.*772+17T>G (n.*772+17T>G)
c.3144+17T>G (n.3144+17T>G)
c.158+17T>G
c.3123+17T>G (n.3123+17T>G)
n.1960+17T>G
c.1722+17T>G (n.1722+17T>G)
c.2031+17T>G (n.2031+17T>G)
n.3068+17T>G
16g.47698605T=CA2220493604PHKBc.*1718+17T= (n.*1718+17T=)
c.*772+17T= (n.*772+17T=)
c.3144+17T= (n.3144+17T=)
c.158+17T=
c.3123+17T= (n.3123+17T=)
n.1960+17T=
c.1722+17T= (n.1722+17T=)
c.2031+17T= (n.2031+17T=)
n.3068+17T=
16g.47698605_47698606insCTCA622395967PHKBc.*1718+17_*1718+18insCT (n.*1718+17_*1718+18insCT)
c.*772+17_*772+18insCT (n.*772+17_*772+18insCT)
c.3144+17_3144+18insCT (n.3144+17_3144+18insCT)
c.158+17_158+18insCT
c.3123+17_3123+18insCT (n.3123+17_3123+18insCT)
n.1960+17_1960+18insCT
c.1722+17_1722+18insCT (n.1722+17_1722+18insCT)
c.2031+17_2031+18insCT (n.2031+17_2031+18insCT)
n.3068+17_3068+18insCT
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.47698605_47698606insCCA495361507PHKBc.*1718+17_*1718+18insC (n.*1718+17_*1718+18insC)
c.*772+17_*772+18insC (n.*772+17_*772+18insC)
c.3144+17_3144+18insC (n.3144+17_3144+18insC)
c.158+17_158+18insC
c.3123+17_3123+18insC (n.3123+17_3123+18insC)
n.1960+17_1960+18insC
c.1722+17_1722+18insC (n.1722+17_1722+18insC)
c.2031+17_2031+18insC (n.2031+17_2031+18insC)
n.3068+17_3068+18insC
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.47698606T>CCA622395971PHKBc.*1718+18T>C (n.*1718+18T>C)
c.*772+18T>C (n.*772+18T>C)
c.3144+18T>C (n.3144+18T>C)
c.158+18T>C
c.3123+18T>C (n.3123+18T>C)
n.1960+18T>C
c.1722+18T>C (n.1722+18T>C)
c.2031+18T>C (n.2031+18T>C)
n.3068+18T>C
dbSNP gnomAD v2 gnomAD v4
16g.47698606T=CA2220493605PHKBc.*1718+18T= (n.*1718+18T=)
c.*772+18T= (n.*772+18T=)
c.3144+18T= (n.3144+18T=)
c.158+18T=
c.3123+18T= (n.3123+18T=)
n.1960+18T=
c.1722+18T= (n.1722+18T=)
c.2031+18T= (n.2031+18T=)
n.3068+18T=
16g.47698607T>CCA622395973PHKBc.*1718+19T>C (n.*1718+19T>C)
c.*772+19T>C (n.*772+19T>C)
c.3144+19T>C (n.3144+19T>C)
c.158+19T>C
c.3123+19T>C (n.3123+19T>C)
n.1960+19T>C
c.1722+19T>C (n.1722+19T>C)
c.2031+19T>C (n.2031+19T>C)
n.3068+19T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.47698607T=CA2220493606PHKBc.*1718+19T= (n.*1718+19T=)
c.*772+19T= (n.*772+19T=)
c.3144+19T= (n.3144+19T=)
c.158+19T=
c.3123+19T= (n.3123+19T=)
n.1960+19T=
c.1722+19T= (n.1722+19T=)
c.2031+19T= (n.2031+19T=)
n.3068+19T=
16g.47698607_47698608insCCA2633050275PHKBc.*1718+19_*1718+20insC (n.*1718+19_*1718+20insC)
c.*772+19_*772+20insC (n.*772+19_*772+20insC)
c.3144+19_3144+20insC (n.3144+19_3144+20insC)
c.158+19_158+20insC
c.3123+19_3123+20insC (n.3123+19_3123+20insC)
n.1960+19_1960+20insC
c.1722+19_1722+20insC (n.1722+19_1722+20insC)
c.2031+19_2031+20insC (n.2031+19_2031+20insC)
n.3068+19_3068+20insC
gnomAD v4
16g.47698608T>CCA2633050276PHKBc.*1718+20T>C (n.*1718+20T>C)
c.*772+20T>C (n.*772+20T>C)
c.3144+20T>C (n.3144+20T>C)
c.158+20T>C
c.3123+20T>C (n.3123+20T>C)
n.1960+20T>C
c.1722+20T>C (n.1722+20T>C)
c.2031+20T>C (n.2031+20T>C)
n.3068+20T>C
gnomAD v4
16g.47698609T>CCA2535785736PHKBc.*1718+21T>C (n.*1718+21T>C)
c.*772+21T>C (n.*772+21T>C)
c.3144+21T>C (n.3144+21T>C)
c.158+21T>C
c.3123+21T>C (n.3123+21T>C)
n.1960+21T>C
c.1722+21T>C (n.1722+21T>C)
c.2031+21T>C (n.2031+21T>C)
n.3068+21T>C
gnomAD v4
16g.47698609_47698610insCCA2633050277PHKBc.*1718+21_*1718+22insC (n.*1718+21_*1718+22insC)
c.*772+21_*772+22insC (n.*772+21_*772+22insC)
c.3144+21_3144+22insC (n.3144+21_3144+22insC)
c.158+21_158+22insC
c.3123+21_3123+22insC (n.3123+21_3123+22insC)
n.1960+21_1960+22insC
c.1722+21_1722+22insC (n.1722+21_1722+22insC)
c.2031+21_2031+22insC (n.2031+21_2031+22insC)
n.3068+21_3068+22insC
gnomAD v4
16g.47698610_47698611insCCA2562131849PHKBc.*1718+22_*1718+23insC (n.*1718+22_*1718+23insC)
c.*772+22_*772+23insC (n.*772+22_*772+23insC)
c.3144+22_3144+23insC (n.3144+22_3144+23insC)
c.158+22_158+23insC
c.3123+22_3123+23insC (n.3123+22_3123+23insC)
n.1960+22_1960+23insC
c.1722+22_1722+23insC (n.1722+22_1722+23insC)
c.2031+22_2031+23insC (n.2031+22_2031+23insC)
n.3068+22_3068+23insC
16g.47698611T>ACA2732291177PHKBc.*1718+23T>A (n.*1718+23T>A)
c.*772+23T>A (n.*772+23T>A)
c.3144+23T>A (n.3144+23T>A)
c.158+23T>A
c.3123+23T>A (n.3123+23T>A)
n.1960+23T>A
c.1722+23T>A (n.1722+23T>A)
c.2031+23T>A (n.2031+23T>A)
n.3068+23T>A
dbSNP
16g.47698611T>CCA2633050278PHKBc.*1718+23T>C (n.*1718+23T>C)
c.*772+23T>C (n.*772+23T>C)
c.3144+23T>C (n.3144+23T>C)
c.158+23T>C
c.3123+23T>C (n.3123+23T>C)
n.1960+23T>C
c.1722+23T>C (n.1722+23T>C)
c.2031+23T>C (n.2031+23T>C)
n.3068+23T>C
gnomAD v4
16g.47698611T=CA2220493607PHKBc.*1718+23T= (n.*1718+23T=)
c.*772+23T= (n.*772+23T=)
c.3144+23T= (n.3144+23T=)
c.158+23T=
c.3123+23T= (n.3123+23T=)
n.1960+23T=
c.1722+23T= (n.1722+23T=)
c.2031+23T= (n.2031+23T=)
n.3068+23T=
16g.47698612_47698613insCTCA2220493608PHKBc.*1718+24_*1718+25insCT (n.*1718+24_*1718+25insCT)
c.*772+24_*772+25insCT (n.*772+24_*772+25insCT)
c.3144+24_3144+25insCT (n.3144+24_3144+25insCT)
c.158+24_158+25insCT
c.3123+24_3123+25insCT (n.3123+24_3123+25insCT)
n.1960+24_1960+25insCT
c.1722+24_1722+25insCT (n.1722+24_1722+25insCT)
c.2031+24_2031+25insCT (n.2031+24_2031+25insCT)
n.3068+24_3068+25insCT
dbSNP

Number of alleles fetched