Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.63721412G>ACA450862643EYS,PHF3c.*7704G>A (n.*7704G>A)
c.8619C>T (p.Asp2873=)
c.8682C>T (p.Asp2894=)
c.363+10050G>A
6g.63721412G>CCA364384356EYS,PHF3c.*7704G>C (n.*7704G>C)
c.8619C>G (p.Asp2873Glu)
c.8682C>G (p.Asp2894Glu)
c.363+10050G>C
6g.63721412G>TCA364384357EYS,PHF3c.*7704G>T (n.*7704G>T)
c.8619C>A (p.Asp2873Glu)
c.8682C>A (p.Asp2894Glu)
c.363+10050G>T
6g.63721413T>ACA364384358EYS,PHF3c.*7705T>A (n.*7705T>A)
c.8618A>T (p.Asp2873Val)
c.8681A>T (p.Asp2894Val)
c.363+10051T>A
6g.63721413T>CCA364384359EYS,PHF3c.*7705T>C (n.*7705T>C)
c.8618A>G (p.Asp2873Gly)
c.8681A>G (p.Asp2894Gly)
c.363+10051T>C
 ClinVar dbSNP gnomAD v4
6g.63721413T>GCA364384360EYS,PHF3c.*7705T>G (n.*7705T>G)
c.8618A>C (p.Asp2873Ala)
c.8681A>C (p.Asp2894Ala)
c.363+10051T>G
 gnomAD v4
6g.63721413T=CA1633381858EYS,PHF3c.*7705T= (n.*7705T=)
c.8618A= (p.Asp2873=)
c.8681A= (p.Asp2894=)
c.363+10051T=
6g.63721414C>ACA364384363EYS,PHF3c.*7706C>A (n.*7706C>A)
c.8617G>T (p.Asp2873Tyr)
c.8680G>T (p.Asp2894Tyr)
c.363+10052C>A
6g.63721414C=CA1633381860EYS,PHF3c.*7706C= (n.*7706C=)
c.8617G= (p.Asp2873=)
c.8680G= (p.Asp2894=)
c.363+10052C=
6g.63721414C>GCA364384361EYS,PHF3c.*7706C>G (n.*7706C>G)
c.8617G>C (p.Asp2873His)
c.8680G>C (p.Asp2894His)
c.363+10052C>G
 gnomAD v4
6g.63721414C>TCA364384362EYS,PHF3c.*7706C>T (n.*7706C>T)
c.8617G>A (p.Asp2873Asn)
c.8680G>A (p.Asp2894Asn)
c.363+10052C>T
 dbSNP
6g.63721415_63721416delCA2573141297EYS,PHF3c.*7707_*7708del (n.*7707_*7708del)
c.8616_8617del (p.Asp2873LeufsTer2)
c.8679_8680del (p.Asp2894LeufsTer2)
c.363+10053_363+10054del
 ClinVar dbSNP gnomAD v4
6g.63721415A>CCA450862649EYS,PHF3c.*7707A>C (n.*7707A>C)
c.8616T>G (p.Gly2872=)
c.8679T>G (p.Gly2893=)
c.363+10053A>C
6g.63721415A>GCA450862650EYS,PHF3c.*7707A>G (n.*7707A>G)
c.8616T>C (p.Gly2872=)
c.8679T>C (p.Gly2893=)
c.363+10053A>G
 gnomAD v4
6g.63721415A>TCA450862653EYS,PHF3c.*7707A>T (n.*7707A>T)
c.8616T>A (p.Gly2872=)
c.8679T>A (p.Gly2893=)
c.363+10053A>T
6g.63721416C>ACA364384364EYS,PHF3c.*7708C>A (n.*7708C>A)
c.8615G>T (p.Gly2872Val)
c.8678G>T (p.Gly2893Val)
c.363+10054C>A
6g.63721416C>GCA364384365EYS,PHF3c.*7708C>G (n.*7708C>G)
c.8615G>C (p.Gly2872Ala)
c.8678G>C (p.Gly2893Ala)
c.363+10054C>G
6g.63721416C>TCA364384366EYS,PHF3c.*7708C>T (n.*7708C>T)
c.8615G>A (p.Gly2872Asp)
c.8678G>A (p.Gly2893Asp)
c.363+10054C>T
 ClinVar gnomAD v4
6g.63721417C>ACA364384367EYS,PHF3c.*7709C>A (n.*7709C>A)
c.8614G>T (p.Gly2872Cys)
c.8677G>T (p.Gly2893Cys)
c.363+10055C>A
6g.63721417C>GCA364384368EYS,PHF3c.*7709C>G (n.*7709C>G)
c.8614G>C (p.Gly2872Arg)
c.8677G>C (p.Gly2893Arg)
c.363+10055C>G
6g.63721417C>TCA364384369EYS,PHF3c.*7709C>T (n.*7709C>T)
c.8614G>A (p.Gly2872Ser)
c.8677G>A (p.Gly2893Ser)
c.363+10055C>T
 ClinVar gnomAD v4
6g.63721418T>ACA450862664EYS,PHF3c.*7710T>A (n.*7710T>A)
c.8613A>T (p.Val2871=)
c.8676A>T (p.Val2892=)
c.363+10056T>A
6g.63721418T>CCA450862665EYS,PHF3c.*7710T>C (n.*7710T>C)
c.8613A>G (p.Val2871=)
c.8676A>G (p.Val2892=)
c.363+10056T>C
6g.63721418T>GCA450862666EYS,PHF3c.*7710T>G (n.*7710T>G)
c.8613A>C (p.Val2871=)
c.8676A>C (p.Val2892=)
c.363+10056T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721418T=CA1633381862EYS,PHF3c.*7710T= (n.*7710T=)
c.8613A= (p.Val2871=)
c.8676A= (p.Val2892=)
c.363+10056T=
6g.63721419A=CA1633381864EYS,PHF3c.*7711A= (n.*7711A=)
c.8612T= (p.Val2871=)
c.8675T= (p.Val2892=)
c.363+10057A=
6g.63721419A>CCA364384370EYS,PHF3c.*7711A>C (n.*7711A>C)
c.8612T>G (p.Val2871Gly)
c.8675T>G (p.Val2892Gly)
c.363+10057A>C
6g.63721419A>GCA364384371EYS,PHF3c.*7711A>G (n.*7711A>G)
c.8612T>C (p.Val2871Ala)
c.8675T>C (p.Val2892Ala)
c.363+10057A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.63721419A>TCA364384372EYS,PHF3c.*7711A>T (n.*7711A>T)
c.8612T>A (p.Val2871Glu)
c.8675T>A (p.Val2892Glu)
c.363+10057A>T
6g.63721420C>ACA364384373EYS,PHF3c.*7712C>A (n.*7712C>A)
c.8611G>T (p.Val2871Leu)
c.8674G>T (p.Val2892Leu)
c.363+10058C>A
 dbSNP gnomAD v4
6g.63721420C=CA1633381867EYS,PHF3c.*7712C= (n.*7712C=)
c.8611G= (p.Val2871=)
c.8674G= (p.Val2892=)
c.363+10058C=
6g.63721420C>GCA364384374EYS,PHF3c.*7712C>G (n.*7712C>G)
c.8611G>C (p.Val2871Leu)
c.8674G>C (p.Val2892Leu)
c.363+10058C>G
6g.63721420C>TCA140236839EYS,PHF3c.*7712C>T (n.*7712C>T)
c.8611G>A (p.Val2871Ile)
c.8674G>A (p.Val2892Ile)
c.363+10058C>T
 ClinVar dbSNP gnomAD v4
6g.63721421A>CCA364384375EYS,PHF3c.*7713A>C (n.*7713A>C)
c.8610T>G (p.Asn2870Lys)
c.8673T>G (p.Asn2891Lys)
c.363+10059A>C
6g.63721421A>GCA450862236EYS,PHF3c.*7713A>G (n.*7713A>G)
c.8610T>C (p.Asn2870=)
c.8673T>C (p.Asn2891=)
c.363+10059A>G
6g.63721421A>TCA364384376EYS,PHF3c.*7713A>T (n.*7713A>T)
c.8610T>A (p.Asn2870Lys)
c.8673T>A (p.Asn2891Lys)
c.363+10059A>T
6g.63721422T>ACA364384377EYS,PHF3c.*7714T>A (n.*7714T>A)
c.8609A>T (p.Asn2870Ile)
c.8672A>T (p.Asn2891Ile)
c.363+10060T>A
6g.63721422T>CCA364384378EYS,PHF3c.*7714T>C (n.*7714T>C)
c.8609A>G (p.Asn2870Ser)
c.8672A>G (p.Asn2891Ser)
c.363+10060T>C
 gnomAD v4
6g.63721422T>GCA364384379EYS,PHF3c.*7714T>G (n.*7714T>G)
c.8609A>C (p.Asn2870Thr)
c.8672A>C (p.Asn2891Thr)
c.363+10060T>G
6g.63721423T>ACA364384380EYS,PHF3c.*7715T>A (n.*7715T>A)
c.8608A>T (p.Asn2870Tyr)
c.8671A>T (p.Asn2891Tyr)
c.363+10061T>A
6g.63721423T>CCA364384381EYS,PHF3c.*7715T>C (n.*7715T>C)
c.8608A>G (p.Asn2870Asp)
c.8671A>G (p.Asn2891Asp)
c.363+10061T>C
6g.63721423T>GCA364384382EYS,PHF3c.*7715T>G (n.*7715T>G)
c.8608A>C (p.Asn2870His)
c.8671A>C (p.Asn2891His)
c.363+10061T>G
6g.63721424T>ACA450862237EYS,PHF3c.*7716T>A (n.*7716T>A)
c.8607A>T (p.Ser2869=)
c.8670A>T (p.Ser2890=)
c.363+10062T>A
6g.63721424T>CCA450862238EYS,PHF3c.*7716T>C (n.*7716T>C)
c.8607A>G (p.Ser2869=)
c.8670A>G (p.Ser2890=)
c.363+10062T>C
6g.63721424T>GCA450862239EYS,PHF3c.*7716T>G (n.*7716T>G)
c.8607A>C (p.Ser2869=)
c.8670A>C (p.Ser2890=)
c.363+10062T>G
6g.63721425G>ACA364384383EYS,PHF3c.*7717G>A (n.*7717G>A)
c.8606C>T (p.Ser2869Leu)
c.8669C>T (p.Ser2890Leu)
c.363+10063G>A
 dbSNP gnomAD v3 gnomAD v4
6g.63721425G>CCA140236840EYS,PHF3c.*7717G>C (n.*7717G>C)
c.8606C>G (p.Ser2869Ter)
c.8669C>G (p.Ser2890Ter)
c.363+10063G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721425G=CA1633381869EYS,PHF3c.*7717G= (n.*7717G=)
c.8606C= (p.Ser2869=)
c.8669C= (p.Ser2890=)
c.363+10063G=
6g.63721425G>TCA364384384EYS,PHF3c.*7717G>T (n.*7717G>T)
c.8606C>A (p.Ser2869Ter)
c.8669C>A (p.Ser2890Ter)
c.363+10063G>T
6g.63721426A>CCA364384385EYS,PHF3c.*7718A>C (n.*7718A>C)
c.8605T>G (p.Ser2869Ala)
c.8668T>G (p.Ser2890Ala)
c.363+10064A>C
6g.63721426A>GCA364384386EYS,PHF3c.*7718A>G (n.*7718A>G)
c.8605T>C (p.Ser2869Pro)
c.8668T>C (p.Ser2890Pro)
c.363+10064A>G
6g.63721426A>TCA364384387EYS,PHF3c.*7718A>T (n.*7718A>T)
c.8605T>A (p.Ser2869Thr)
c.8668T>A (p.Ser2890Thr)
c.363+10064A>T
6g.63721427G>ACA450862240EYS,PHF3c.*7719G>A (n.*7719G>A)
c.8604C>T (p.Gly2868=)
c.8667C>T (p.Gly2889=)
c.363+10065G>A
6g.63721427G>CCA450862241EYS,PHF3c.*7719G>C (n.*7719G>C)
c.8604C>G (p.Gly2868=)
c.8667C>G (p.Gly2889=)
c.363+10065G>C
6g.63721427G>TCA450862242EYS,PHF3c.*7719G>T (n.*7719G>T)
c.8604C>A (p.Gly2868=)
c.8667C>A (p.Gly2889=)
c.363+10065G>T
6g.63721428C>ACA364384389EYS,PHF3c.*7720C>A (n.*7720C>A)
c.8603G>T (p.Gly2868Val)
c.8666G>T (p.Gly2889Val)
c.363+10066C>A
6g.63721428C>GCA364384390EYS,PHF3c.*7720C>G (n.*7720C>G)
c.8603G>C (p.Gly2868Ala)
c.8666G>C (p.Gly2889Ala)
c.363+10066C>G
6g.63721428C>TCA364384388EYS,PHF3c.*7720C>T (n.*7720C>T)
c.8603G>A (p.Gly2868Asp)
c.8666G>A (p.Gly2889Asp)
c.363+10066C>T
6g.63721429C>ACA364384391EYS,PHF3c.*7721C>A (n.*7721C>A)
c.8602G>T (p.Gly2868Cys)
c.8665G>T (p.Gly2889Cys)
c.363+10067C>A
6g.63721429C>GCA364384392EYS,PHF3c.*7721C>G (n.*7721C>G)
c.8602G>C (p.Gly2868Arg)
c.8665G>C (p.Gly2889Arg)
c.363+10067C>G
 gnomAD v4
6g.63721429C>TCA364384393EYS,PHF3c.*7721C>T (n.*7721C>T)
c.8602G>A (p.Gly2868Ser)
c.8665G>A (p.Gly2889Ser)
c.363+10067C>T
6g.63721430A=CA1633381871EYS,PHF3c.*7722A= (n.*7722A=)
c.8601T= (p.Gly2867=)
c.8664T= (p.Gly2888=)
c.363+10068A=
6g.63721430A>CCA450862243EYS,PHF3c.*7722A>C (n.*7722A>C)
c.8601T>G (p.Gly2867=)
c.8664T>G (p.Gly2888=)
c.363+10068A>C
6g.63721430A>GCA450862244EYS,PHF3c.*7722A>G (n.*7722A>G)
c.8601T>C (p.Gly2867=)
c.8664T>C (p.Gly2888=)
c.363+10068A>G
 dbSNP gnomAD v2 gnomAD v4
6g.63721430A>TCA450862245EYS,PHF3c.*7722A>T (n.*7722A>T)
c.8601T>A (p.Gly2867=)
c.8664T>A (p.Gly2888=)
c.363+10068A>T
6g.63721431C>ACA364384394EYS,PHF3c.*7723C>A (n.*7723C>A)
c.8600G>T (p.Gly2867Val)
c.8663G>T (p.Gly2888Val)
c.363+10069C>A
 dbSNP gnomAD v4
6g.63721431C=CA1633381873EYS,PHF3c.*7723C= (n.*7723C=)
c.8600G= (p.Gly2867=)
c.8663G= (p.Gly2888=)
c.363+10069C=
6g.63721431C>GCA364384395EYS,PHF3c.*7723C>G (n.*7723C>G)
c.8600G>C (p.Gly2867Ala)
c.8663G>C (p.Gly2888Ala)
c.363+10069C>G
6g.63721431C>TCA364384396EYS,PHF3c.*7723C>T (n.*7723C>T)
c.8600G>A (p.Gly2867Asp)
c.8663G>A (p.Gly2888Asp)
c.363+10069C>T
 dbSNP gnomAD v4
6g.63721432delCA2739289894EYS,PHF3c.*7724del (n.*7724del)
c.8600del (p.Gly2867ValfsTer5)
c.8663del (p.Gly2888ValfsTer5)
c.363+10070del
6g.63721432C>ACA364384397EYS,PHF3c.*7724C>A (n.*7724C>A)
c.8599G>T (p.Gly2867Cys)
c.8662G>T (p.Gly2888Cys)
c.363+10070C>A
 gnomAD v4
6g.63721432C=CA1633381877EYS,PHF3c.*7724C= (n.*7724C=)
c.8599G= (p.Gly2867=)
c.8662G= (p.Gly2888=)
c.363+10070C=
6g.63721432C>GCA364384399EYS,PHF3c.*7724C>G (n.*7724C>G)
c.8599G>C (p.Gly2867Arg)
c.8662G>C (p.Gly2888Arg)
c.363+10070C>G
 ClinVar dbSNP gnomAD v4
6g.63721432C>TCA364384398EYS,PHF3c.*7724C>T (n.*7724C>T)
c.8599G>A (p.Gly2867Ser)
c.8662G>A (p.Gly2888Ser)
c.363+10070C>T
 dbSNP gnomAD v2 gnomAD v4
6g.63721432_63721433delinsCTCA1633381876EYS,PHF3c.*7724_*7725delinsCT (n.*7724_*7725delinsCT)
c.8598_8599delinsAG (p.Lys2866=)
c.8661_8662delinsAG (p.Lys2887=)
c.363+10070_363+10071delinsCT
6g.63721433T>ACA364384400EYS,PHF3c.*7725T>A (n.*7725T>A)
c.8598A>T (p.Lys2866Asn)
c.8661A>T (p.Lys2887Asn)
c.363+10071T>A
6g.63721433T>CCA450862246EYS,PHF3c.*7725T>C (n.*7725T>C)
c.8598A>G (p.Lys2866=)
c.8661A>G (p.Lys2887=)
c.363+10071T>C
6g.63721433T>GCA364384401EYS,PHF3c.*7725T>G (n.*7725T>G)
c.8598A>C (p.Lys2866Asn)
c.8661A>C (p.Lys2887Asn)
c.363+10071T>G
6g.63721436delCA140236841EYS,PHF3c.*7728del (n.*7728del)
c.8598del (p.Gly2867ValfsTer5)
c.8661del (p.Gly2888ValfsTer5)
c.363+10074del
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721434T>ACA364384402EYS,PHF3c.*7726T>A (n.*7726T>A)
c.8597A>T (p.Lys2866Ile)
c.8660A>T (p.Lys2887Ile)
c.363+10072T>A
6g.63721434T>CCA364384403EYS,PHF3c.*7726T>C (n.*7726T>C)
c.8597A>G (p.Lys2866Arg)
c.8660A>G (p.Lys2887Arg)
c.363+10072T>C
 gnomAD v4
6g.63721434T>GCA364384404EYS,PHF3c.*7726T>G (n.*7726T>G)
c.8597A>C (p.Lys2866Thr)
c.8660A>C (p.Lys2887Thr)
c.363+10072T>G
6g.63721435T>ACA364384406EYS,PHF3c.*7727T>A (n.*7727T>A)
c.8596A>T (p.Lys2866Ter)
c.8659A>T (p.Lys2887Ter)
c.363+10073T>A
 ClinVar dbSNP gnomAD v4
6g.63721435T>CCA364384407EYS,PHF3c.*7727T>C (n.*7727T>C)
c.8596A>G (p.Lys2866Glu)
c.8659A>G (p.Lys2887Glu)
c.363+10073T>C
6g.63721435T>GCA364384405EYS,PHF3c.*7727T>G (n.*7727T>G)
c.8596A>C (p.Lys2866Gln)
c.8659A>C (p.Lys2887Gln)
c.363+10073T>G
6g.63721436T>ACA450862247EYS,PHF3c.*7728T>A (n.*7728T>A)
c.8595A>T (p.Ala2865=)
c.8658A>T (p.Ala2886=)
c.363+10074T>A
6g.63721436T>CCA450862248EYS,PHF3c.*7728T>C (n.*7728T>C)
c.8595A>G (p.Ala2865=)
c.8658A>G (p.Ala2886=)
c.363+10074T>C
6g.63721436T>GCA450862249EYS,PHF3c.*7728T>G (n.*7728T>G)
c.8595A>C (p.Ala2865=)
c.8658A>C (p.Ala2886=)
c.363+10074T>G
6g.63721437G>ACA364384408EYS,PHF3c.*7729G>A (n.*7729G>A)
c.8594C>T (p.Ala2865Val)
c.8657C>T (p.Ala2886Val)
c.363+10075G>A
6g.63721437G>CCA364384410EYS,PHF3c.*7729G>C (n.*7729G>C)
c.8594C>G (p.Ala2865Gly)
c.8657C>G (p.Ala2886Gly)
c.363+10075G>C
 dbSNP gnomAD v2 gnomAD v4
6g.63721437G=CA1633381882EYS,PHF3c.*7729G= (n.*7729G=)
c.8594C= (p.Ala2865=)
c.8657C= (p.Ala2886=)
c.363+10075G=
6g.63721437G>TCA364384409EYS,PHF3c.*7729G>T (n.*7729G>T)
c.8594C>A (p.Ala2865Glu)
c.8657C>A (p.Ala2886Glu)
c.363+10075G>T
6g.63721438C>ACA364384411EYS,PHF3c.*7730C>A (n.*7730C>A)
c.8593G>T (p.Ala2865Ser)
c.8656G>T (p.Ala2886Ser)
c.363+10076C>A
6g.63721438C>GCA364384412EYS,PHF3c.*7730C>G (n.*7730C>G)
c.8593G>C (p.Ala2865Pro)
c.8656G>C (p.Ala2886Pro)
c.363+10076C>G
6g.63721438C>TCA364384413EYS,PHF3c.*7730C>T (n.*7730C>T)
c.8593G>A (p.Ala2865Thr)
c.8656G>A (p.Ala2886Thr)
c.363+10076C>T
 ClinVar
6g.63721439T>ACA450862250EYS,PHF3c.*7731T>A (n.*7731T>A)
c.8592A>T (p.Gly2864=)
c.8655A>T (p.Gly2885=)
c.363+10077T>A
6g.63721439T>CCA450862251EYS,PHF3c.*7731T>C (n.*7731T>C)
c.8592A>G (p.Gly2864=)
c.8655A>G (p.Gly2885=)
c.363+10077T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721439T>GCA450862252EYS,PHF3c.*7731T>G (n.*7731T>G)
c.8592A>C (p.Gly2864=)
c.8655A>C (p.Gly2885=)
c.363+10077T>G
6g.63721439T=CA1633381884EYS,PHF3c.*7731T= (n.*7731T=)
c.8592A= (p.Gly2864=)
c.8655A= (p.Gly2885=)
c.363+10077T=
6g.63721439_63721446delCA2695206720EYS,PHF3c.*7731_*7738del (n.*7731_*7738del)
c.8585_8592del (p.Glu2862GlyfsTer9)
c.8648_8655del (p.Glu2883GlyfsTer9)
c.363+10077_363+10084del
6g.63721440C>ACA364384414EYS,PHF3c.*7732C>A (n.*7732C>A)
c.8591G>T (p.Gly2864Val)
c.8654G>T (p.Gly2885Val)
c.363+10078C>A
6g.63721440C>GCA364384415EYS,PHF3c.*7732C>G (n.*7732C>G)
c.8591G>C (p.Gly2864Ala)
c.8654G>C (p.Gly2885Ala)
c.363+10078C>G
6g.63721440C>TCA364384416EYS,PHF3c.*7732C>T (n.*7732C>T)
c.8591G>A (p.Gly2864Glu)
c.8654G>A (p.Gly2885Glu)
c.363+10078C>T
 gnomAD v4
6g.63721441C>ACA364384417EYS,PHF3c.*7733C>A (n.*7733C>A)
c.8590G>T (p.Gly2864Ter)
c.8653G>T (p.Gly2885Ter)
c.363+10079C>A
 ClinVar dbSNP gnomAD v4
6g.63721441C=CA1633381886EYS,PHF3c.*7733C= (n.*7733C=)
c.8590G= (p.Gly2864=)
c.8653G= (p.Gly2885=)
c.363+10079C=
6g.63721441C>GCA364384418EYS,PHF3c.*7733C>G (n.*7733C>G)
c.8590G>C (p.Gly2864Arg)
c.8653G>C (p.Gly2885Arg)
c.363+10079C>G
6g.63721441C>TCA364384419EYS,PHF3c.*7733C>T (n.*7733C>T)
c.8590G>A (p.Gly2864Arg)
c.8653G>A (p.Gly2885Arg)
c.363+10079C>T
6g.63721442A>CCA364384420EYS,PHF3c.*7734A>C (n.*7734A>C)
c.8589T>G (p.Phe2863Leu)
c.8652T>G (p.Phe2884Leu)
c.363+10080A>C
6g.63721442A>GCA450862253EYS,PHF3c.*7734A>G (n.*7734A>G)
c.8589T>C (p.Phe2863=)
c.8652T>C (p.Phe2884=)
c.363+10080A>G
6g.63721442A>TCA364384421EYS,PHF3c.*7734A>T (n.*7734A>T)
c.8589T>A (p.Phe2863Leu)
c.8652T>A (p.Phe2884Leu)
c.363+10080A>T
6g.63721443A>CCA364384424EYS,PHF3c.*7735A>C (n.*7735A>C)
c.8588T>G (p.Phe2863Cys)
c.8651T>G (p.Phe2884Cys)
c.363+10081A>C
6g.63721443A>GCA364384423EYS,PHF3c.*7735A>G (n.*7735A>G)
c.8588T>C (p.Phe2863Ser)
c.8651T>C (p.Phe2884Ser)
c.363+10081A>G
 gnomAD v4
6g.63721443A>TCA364384422EYS,PHF3c.*7735A>T (n.*7735A>T)
c.8588T>A (p.Phe2863Tyr)
c.8651T>A (p.Phe2884Tyr)
c.363+10081A>T
6g.63721444A=CA1633381889EYS,PHF3c.*7736A= (n.*7736A=)
c.8587T= (p.Phe2863=)
c.8650T= (p.Phe2884=)
c.363+10082A=
6g.63721444A>CCA364384425EYS,PHF3c.*7736A>C (n.*7736A>C)
c.8587T>G (p.Phe2863Val)
c.8650T>G (p.Phe2884Val)
c.363+10082A>C
6g.63721444A>GCA140236842EYS,PHF3c.*7736A>G (n.*7736A>G)
c.8587T>C (p.Phe2863Leu)
c.8650T>C (p.Phe2884Leu)
c.363+10082A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721444A>TCA364384426EYS,PHF3c.*7736A>T (n.*7736A>T)
c.8587T>A (p.Phe2863Ile)
c.8650T>A (p.Phe2884Ile)
c.363+10082A>T
6g.63721445T>ACA364384427EYS,PHF3c.*7737T>A (n.*7737T>A)
c.8586A>T (p.Glu2862Asp)
c.8649A>T (p.Glu2883Asp)
c.363+10083T>A
6g.63721445T>CCA450862254EYS,PHF3c.*7737T>C (n.*7737T>C)
c.8586A>G (p.Glu2862=)
c.8649A>G (p.Glu2883=)
c.363+10083T>C
6g.63721445T>GCA364384428EYS,PHF3c.*7737T>G (n.*7737T>G)
c.8586A>C (p.Glu2862Asp)
c.8649A>C (p.Glu2883Asp)
c.363+10083T>G
6g.63721446T>ACA364384429EYS,PHF3c.*7738T>A (n.*7738T>A)
c.8585A>T (p.Glu2862Val)
c.8648A>T (p.Glu2883Val)
c.363+10084T>A
6g.63721446T>CCA364384430EYS,PHF3c.*7738T>C (n.*7738T>C)
c.8585A>G (p.Glu2862Gly)
c.8648A>G (p.Glu2883Gly)
c.363+10084T>C
6g.63721446T>GCA364384431EYS,PHF3c.*7738T>G (n.*7738T>G)
c.8585A>C (p.Glu2862Ala)
c.8648A>C (p.Glu2883Ala)
c.363+10084T>G
6g.63721447C>ACA364384432EYS,PHF3c.*7739C>A (n.*7739C>A)
c.8584G>T (p.Glu2862Ter)
c.8647G>T (p.Glu2883Ter)
c.363+10085C>A
6g.63721447C=CA1633381891EYS,PHF3c.*7739C= (n.*7739C=)
c.8584G= (p.Glu2862=)
c.8647G= (p.Glu2883=)
c.363+10085C=
6g.63721447C>GCA364384433EYS,PHF3c.*7739C>G (n.*7739C>G)
c.8584G>C (p.Glu2862Gln)
c.8647G>C (p.Glu2883Gln)
c.363+10085C>G
6g.63721447C>TCA364384434EYS,PHF3c.*7739C>T (n.*7739C>T)
c.8584G>A (p.Glu2862Lys)
c.8647G>A (p.Glu2883Lys)
c.363+10085C>T
 dbSNP gnomAD v2 gnomAD v4
6g.63721448A=CA1633381893EYS,PHF3c.*7740A= (n.*7740A=)
c.8583T= (p.Thr2861=)
c.8646T= (p.Thr2882=)
c.363+10086A=
6g.63721448A>CCA450862255EYS,PHF3c.*7740A>C (n.*7740A>C)
c.8583T>G (p.Thr2861=)
c.8646T>G (p.Thr2882=)
c.363+10086A>C
6g.63721448A>GCA140236843EYS,PHF3c.*7740A>G (n.*7740A>G)
c.8583T>C (p.Thr2861=)
c.8646T>C (p.Thr2882=)
c.363+10086A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721448A>TCA450862256EYS,PHF3c.*7740A>T (n.*7740A>T)
c.8583T>A (p.Thr2861=)
c.8646T>A (p.Thr2882=)
c.363+10086A>T
6g.63721449G>ACA364384437EYS,PHF3c.*7741G>A (n.*7741G>A)
c.8582C>T (p.Thr2861Ile)
c.8645C>T (p.Thr2882Ile)
c.363+10087G>A
6g.63721449G>CCA364384436EYS,PHF3c.*7741G>C (n.*7741G>C)
c.8582C>G (p.Thr2861Ser)
c.8645C>G (p.Thr2882Ser)
c.363+10087G>C
6g.63721449G=CA1633381895EYS,PHF3c.*7741G= (n.*7741G=)
c.8582C= (p.Thr2861=)
c.8645C= (p.Thr2882=)
c.363+10087G=
6g.63721449G>TCA364384435EYS,PHF3c.*7741G>T (n.*7741G>T)
c.8582C>A (p.Thr2861Asn)
c.8645C>A (p.Thr2882Asn)
c.363+10087G>T
 dbSNP gnomAD v3 gnomAD v4
6g.63721450T>ACA364384440EYS,PHF3c.*7742T>A (n.*7742T>A)
c.8581A>T (p.Thr2861Ser)
c.8644A>T (p.Thr2882Ser)
c.363+10088T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721450T>CCA364384438EYS,PHF3c.*7742T>C (n.*7742T>C)
c.8581A>G (p.Thr2861Ala)
c.8644A>G (p.Thr2882Ala)
c.363+10088T>C
6g.63721450T>GCA364384439EYS,PHF3c.*7742T>G (n.*7742T>G)
c.8581A>C (p.Thr2861Pro)
c.8644A>C (p.Thr2882Pro)
c.363+10088T>G
 gnomAD v4
6g.63721450T=CA1633381897EYS,PHF3c.*7742T= (n.*7742T=)
c.8581A= (p.Thr2861=)
c.8644A= (p.Thr2882=)
c.363+10088T=
6g.63721451T>ACA364384441EYS,PHF3c.*7743T>A (n.*7743T>A)
c.8580A>T (p.Leu2860Phe)
c.8643A>T (p.Leu2881Phe)
c.363+10089T>A
6g.63721451T>CCA450862257EYS,PHF3c.*7743T>C (n.*7743T>C)
c.8580A>G (p.Leu2860=)
c.8643A>G (p.Leu2881=)
c.363+10089T>C
6g.63721451T>GCA364384442EYS,PHF3c.*7743T>G (n.*7743T>G)
c.8580A>C (p.Leu2860Phe)
c.8643A>C (p.Leu2881Phe)
c.363+10089T>G
 dbSNP
6g.63721451T=CA1633381899EYS,PHF3c.*7743T= (n.*7743T=)
c.8580A= (p.Leu2860=)
c.8643A= (p.Leu2881=)
c.363+10089T=
6g.63721456_63721461delCA2739289895EYS,PHF3c.*7748_*7753del (n.*7748_*7753del)
c.8575_8580del (p.Gln2859_Leu2860del)
c.8638_8643del (p.Gln2880_Leu2881del)
c.363+10094_363+10099del
6g.63721452A=CA1633381901EYS,PHF3c.*7744A= (n.*7744A=)
c.8579T= (p.Leu2860=)
c.8642T= (p.Leu2881=)
c.363+10090A=
6g.63721452A>CCA364384443EYS,PHF3c.*7744A>C (n.*7744A>C)
c.8579T>G (p.Leu2860Ter)
c.8642T>G (p.Leu2881Ter)
c.363+10090A>C
 gnomAD v4
6g.63721452A>GCA364384444EYS,PHF3c.*7744A>G (n.*7744A>G)
c.8579T>C (p.Leu2860Ser)
c.8642T>C (p.Leu2881Ser)
c.363+10090A>G
6g.63721452A>TCA364384445EYS,PHF3c.*7744A>T (n.*7744A>T)
c.8579T>A (p.Leu2860Ter)
c.8642T>A (p.Leu2881Ter)
c.363+10090A>T
 ClinVar dbSNP
6g.63721453A>CCA364384446EYS,PHF3c.*7745A>C (n.*7745A>C)
c.8578T>G (p.Leu2860Val)
c.8641T>G (p.Leu2881Val)
c.363+10091A>C
6g.63721453A>GCA450862258EYS,PHF3c.*7745A>G (n.*7745A>G)
c.8578T>C (p.Leu2860=)
c.8641T>C (p.Leu2881=)
c.363+10091A>G
6g.63721453A>TCA364384447EYS,PHF3c.*7745A>T (n.*7745A>T)
c.8578T>A (p.Leu2860Ile)
c.8641T>A (p.Leu2881Ile)
c.363+10091A>T
6g.63721454T>ACA364384448EYS,PHF3c.*7746T>A (n.*7746T>A)
c.8577A>T (p.Gln2859His)
c.8640A>T (p.Gln2880His)
c.363+10092T>A
6g.63721454T>CCA450862259EYS,PHF3c.*7746T>C (n.*7746T>C)
c.8577A>G (p.Gln2859=)
c.8640A>G (p.Gln2880=)
c.363+10092T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.63721454T>GCA140236844EYS,PHF3c.*7746T>G (n.*7746T>G)
c.8577A>C (p.Gln2859His)
c.8640A>C (p.Gln2880His)
c.363+10092T>G
 dbSNP
6g.63721454T=CA1633381903EYS,PHF3c.*7746T= (n.*7746T=)
c.8577A= (p.Gln2859=)
c.8640A= (p.Gln2880=)
c.363+10092T=
6g.63721455T>ACA364384449EYS,PHF3c.*7747T>A (n.*7747T>A)
c.8576A>T (p.Gln2859Leu)
c.8639A>T (p.Gln2880Leu)
c.363+10093T>A
6g.63721455T>CCA364384450EYS,PHF3c.*7747T>C (n.*7747T>C)
c.8576A>G (p.Gln2859Arg)
c.8639A>G (p.Gln2880Arg)
c.363+10093T>C
6g.63721455T>GCA364384451EYS,PHF3c.*7747T>G (n.*7747T>G)
c.8576A>C (p.Gln2859Pro)
c.8639A>C (p.Gln2880Pro)
c.363+10093T>G
6g.63721456G>ACA364384452EYS,PHF3c.*7748G>A (n.*7748G>A)
c.8575C>T (p.Gln2859Ter)
c.8638C>T (p.Gln2880Ter)
c.363+10094G>A
6g.63721456G>CCA364384454EYS,PHF3c.*7748G>C (n.*7748G>C)
c.8575C>G (p.Gln2859Glu)
c.8638C>G (p.Gln2880Glu)
c.363+10094G>C
6g.63721456G>TCA364384453EYS,PHF3c.*7748G>T (n.*7748G>T)
c.8575C>A (p.Gln2859Lys)
c.8638C>A (p.Gln2880Lys)
c.363+10094G>T
6g.63721457T>ACA364384455EYS,PHF3c.*7749T>A (n.*7749T>A)
c.8574A>T (p.Leu2858Phe)
c.8637A>T (p.Leu2879Phe)
c.363+10095T>A
6g.63721457T>CCA450862260EYS,PHF3c.*7749T>C (n.*7749T>C)
c.8574A>G (p.Leu2858=)
c.8637A>G (p.Leu2879=)
c.363+10095T>C
 ClinVar gnomAD v4
6g.63721457T>GCA364384456EYS,PHF3c.*7749T>G (n.*7749T>G)
c.8574A>C (p.Leu2858Phe)
c.8637A>C (p.Leu2879Phe)
c.363+10095T>G
6g.63721458A>CCA364384457EYS,PHF3c.*7750A>C (n.*7750A>C)
c.8573T>G (p.Leu2858Ter)
c.8636T>G (p.Leu2879Ter)
c.363+10096A>C
6g.63721458A>GCA364384458EYS,PHF3c.*7750A>G (n.*7750A>G)
c.8573T>C (p.Leu2858Ser)
c.8636T>C (p.Leu2879Ser)
c.363+10096A>G
6g.63721458A>TCA364384459EYS,PHF3c.*7750A>T (n.*7750A>T)
c.8573T>A (p.Leu2858Ter)
c.8636T>A (p.Leu2879Ter)
c.363+10096A>T
6g.63721459delCA2578659644EYS,PHF3c.*7751del (n.*7751del)
c.8573del (p.Leu2858TyrfsTer3)
c.8636del (p.Leu2879TyrfsTer3)
c.363+10097del
6g.63721459A>CCA364384460EYS,PHF3c.*7751A>C (n.*7751A>C)
c.8572T>G (p.Leu2858Val)
c.8635T>G (p.Leu2879Val)
c.363+10097A>C
6g.63721459A>GCA450862261EYS,PHF3c.*7751A>G (n.*7751A>G)
c.8572T>C (p.Leu2858=)
c.8635T>C (p.Leu2879=)
c.363+10097A>G
6g.63721459A>TCA364384461EYS,PHF3c.*7751A>T (n.*7751A>T)
c.8572T>A (p.Leu2858Ile)
c.8635T>A (p.Leu2879Ile)
c.363+10097A>T
 gnomAD v4
6g.63721460T>ACA364384462EYS,PHF3c.*7752T>A (n.*7752T>A)
c.8571A>T (p.Glu2857Asp)
c.8634A>T (p.Glu2878Asp)
c.363+10098T>A
6g.63721460T>CCA450862262EYS,PHF3c.*7752T>C (n.*7752T>C)
c.8571A>G (p.Glu2857=)
c.8634A>G (p.Glu2878=)
c.363+10098T>C
 dbSNP
6g.63721460T>GCA364384463EYS,PHF3c.*7752T>G (n.*7752T>G)
c.8571A>C (p.Glu2857Asp)
c.8634A>C (p.Glu2878Asp)
c.363+10098T>G
6g.63721460T=CA1633381905EYS,PHF3c.*7752T= (n.*7752T=)
c.8571A= (p.Glu2857=)
c.8634A= (p.Glu2878=)
c.363+10098T=
6g.63721461T>ACA364384464EYS,PHF3c.*7753T>A (n.*7753T>A)
c.8570A>T (p.Glu2857Val)
c.8633A>T (p.Glu2878Val)
c.363+10099T>A
 dbSNP gnomAD v3 gnomAD v4
6g.63721461T>CCA364384465EYS,PHF3c.*7753T>C (n.*7753T>C)
c.8570A>G (p.Glu2857Gly)
c.8633A>G (p.Glu2878Gly)
c.363+10099T>C
 gnomAD v4
6g.63721461T>GCA364384466EYS,PHF3c.*7753T>G (n.*7753T>G)
c.8570A>C (p.Glu2857Ala)
c.8633A>C (p.Glu2878Ala)
c.363+10099T>G
6g.63721461T=CA1633381907EYS,PHF3c.*7753T= (n.*7753T=)
c.8570A= (p.Glu2857=)
c.8633A= (p.Glu2878=)
c.363+10099T=
6g.63721462C>ACA364384468EYS,PHF3c.*7754C>A (n.*7754C>A)
c.8569G>T (p.Glu2857Ter)
c.8632G>T (p.Glu2878Ter)
c.363+10100C>A
 gnomAD v4
6g.63721462C>GCA364384469EYS,PHF3c.*7754C>G (n.*7754C>G)
c.8569G>C (p.Glu2857Gln)
c.8632G>C (p.Glu2878Gln)
c.363+10100C>G
6g.63721462C>TCA364384467EYS,PHF3c.*7754C>T (n.*7754C>T)
c.8569G>A (p.Glu2857Lys)
c.8632G>A (p.Glu2878Lys)
c.363+10100C>T
6g.63721462_63721466delinsCTTGACA1633381909EYS,PHF3c.*7754_*7758delinsCTTGA (n.*7754_*7758delinsCTTGA)
c.8565_8569delinsTCAAG (p.Asn2855=)
c.8628_8632delinsTCAAG (p.Asn2876=)
c.363+10100_363+10104delinsCTTGA
6g.63721463T>ACA364384470EYS,PHF3c.*7755T>A (n.*7755T>A)
c.8568A>T (p.Gln2856His)
c.8631A>T (p.Gln2877His)
c.363+10101T>A
6g.63721463T>CCA450862263EYS,PHF3c.*7755T>C (n.*7755T>C)
c.8568A>G (p.Gln2856=)
c.8631A>G (p.Gln2877=)
c.363+10101T>C
6g.63721463T>GCA364384471EYS,PHF3c.*7755T>G (n.*7755T>G)
c.8568A>C (p.Gln2856His)
c.8631A>C (p.Gln2877His)
c.363+10101T>G
6g.63721465_63721468delCA568118966EYS,PHF3c.*7757_*7760del (n.*7757_*7760del)
c.8565_8568del (p.Asn2855LysfsTer5)
c.8628_8631del (p.Asn2876LysfsTer5)
c.363+10103_363+10106del
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.63721464T>ACA364384472EYS,PHF3c.*7756T>A (n.*7756T>A)
c.8567A>T (p.Gln2856Leu)
c.8630A>T (p.Gln2877Leu)
c.363+10102T>A
6g.63721464T>CCA364384473EYS,PHF3c.*7756T>C (n.*7756T>C)
c.8567A>G (p.Gln2856Arg)
c.8630A>G (p.Gln2877Arg)
c.363+10102T>C
6g.63721464T>GCA364384474EYS,PHF3c.*7756T>G (n.*7756T>G)
c.8567A>C (p.Gln2856Pro)
c.8630A>C (p.Gln2877Pro)
c.363+10102T>G
6g.63721465G>ACA364384475EYS,PHF3c.*7757G>A (n.*7757G>A)
c.8566C>T (p.Gln2856Ter)
c.8629C>T (p.Gln2877Ter)
c.363+10103G>A
 gnomAD v4
6g.63721465G>CCA364384476EYS,PHF3c.*7757G>C (n.*7757G>C)
c.8566C>G (p.Gln2856Glu)
c.8629C>G (p.Gln2877Glu)
c.363+10103G>C
 gnomAD v4
6g.63721465G=CA1633381912EYS,PHF3c.*7757G= (n.*7757G=)
c.8566C= (p.Gln2856=)
c.8629C= (p.Gln2877=)
c.363+10103G=
6g.63721465G>TCA364384477EYS,PHF3c.*7757G>T (n.*7757G>T)
c.8566C>A (p.Gln2856Lys)
c.8629C>A (p.Gln2877Lys)
c.363+10103G>T
 dbSNP
6g.63721466A=CA1633381916EYS,PHF3c.*7758A= (n.*7758A=)
c.8565T= (p.Asn2855=)
c.8628T= (p.Asn2876=)
c.363+10104A=
6g.63721466A>CCA364384478EYS,PHF3c.*7758A>C (n.*7758A>C)
c.8565T>G (p.Asn2855Lys)
c.8628T>G (p.Asn2876Lys)
c.363+10104A>C
6g.63721466A>GCA450862265EYS,PHF3c.*7758A>G (n.*7758A>G)
c.8565T>C (p.Asn2855=)
c.8628T>C (p.Asn2876=)
c.363+10104A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721466A>TCA364384479EYS,PHF3c.*7758A>T (n.*7758A>T)
c.8565T>A (p.Asn2855Lys)
c.8628T>A (p.Asn2876Lys)
c.363+10104A>T
 dbSNP
6g.63721466_63721470delinsATTATCA1633381915EYS,PHF3c.*7758_*7762delinsATTAT (n.*7758_*7762delinsATTAT)
c.8561_8565delinsATAAT (p.Asn2854=)
c.8624_8628delinsATAAT (p.Asn2875=)
c.363+10104_363+10108delinsATTAT
6g.63721469_63721471delCA450862264EYS,PHF3c.*7761_*7763del (n.*7761_*7763del)
c.8563_8565del (p.Asn2855del)
c.8626_8628del (p.Asn2876del)
c.363+10107_363+10109del
6g.63721467T>ACA364384480EYS,PHF3c.*7759T>A (n.*7759T>A)
c.8564A>T (p.Asn2855Ile)
c.8627A>T (p.Asn2876Ile)
c.363+10105T>A
6g.63721467T>CCA140236845EYS,PHF3c.*7759T>C (n.*7759T>C)
c.8564A>G (p.Asn2855Ser)
c.8627A>G (p.Asn2876Ser)
c.363+10105T>C
 ClinVar dbSNP
6g.63721467T>GCA364384481EYS,PHF3c.*7759T>G (n.*7759T>G)
c.8564A>C (p.Asn2855Thr)
c.8627A>C (p.Asn2876Thr)
c.363+10105T>G
6g.63721467T=CA1633381919EYS,PHF3c.*7759T= (n.*7759T=)
c.8564A= (p.Asn2855=)
c.8627A= (p.Asn2876=)
c.363+10105T=
6g.63721471_63721474delCA916082855EYS,PHF3c.*7763_*7766del (n.*7763_*7766del)
c.8561_8564del (p.Asn2854IlefsTer6)
c.8624_8627del (p.Asn2875IlefsTer6)
c.363+10109_363+10112del
 ClinVar dbSNP
6g.63721468T>ACA364384484EYS,PHF3c.*7760T>A (n.*7760T>A)
c.8563A>T (p.Asn2855Tyr)
c.8626A>T (p.Asn2876Tyr)
c.363+10106T>A
6g.63721468T>CCA364384483EYS,PHF3c.*7760T>C (n.*7760T>C)
c.8563A>G (p.Asn2855Asp)
c.8626A>G (p.Asn2876Asp)
c.363+10106T>C
6g.63721468T>GCA364384482EYS,PHF3c.*7760T>G (n.*7760T>G)
c.8563A>C (p.Asn2855His)
c.8626A>C (p.Asn2876His)
c.363+10106T>G
6g.63721469A>CCA364384485EYS,PHF3c.*7761A>C (n.*7761A>C)
c.8562T>G (p.Asn2854Lys)
c.8625T>G (p.Asn2875Lys)
c.363+10107A>C
6g.63721469A>GCA450862266EYS,PHF3c.*7761A>G (n.*7761A>G)
c.8562T>C (p.Asn2854=)
c.8625T>C (p.Asn2875=)
c.363+10107A>G
 gnomAD v4
6g.63721469A>TCA364384486EYS,PHF3c.*7761A>T (n.*7761A>T)
c.8562T>A (p.Asn2854Lys)
c.8625T>A (p.Asn2875Lys)
c.363+10107A>T
6g.63721470T>ACA364384487EYS,PHF3c.*7762T>A (n.*7762T>A)
c.8561A>T (p.Asn2854Ile)
c.8624A>T (p.Asn2875Ile)
c.363+10108T>A
6g.63721470T>CCA364384488EYS,PHF3c.*7762T>C (n.*7762T>C)
c.8561A>G (p.Asn2854Ser)
c.8624A>G (p.Asn2875Ser)
c.363+10108T>C
6g.63721470T>GCA364384489EYS,PHF3c.*7762T>G (n.*7762T>G)
c.8561A>C (p.Asn2854Thr)
c.8624A>C (p.Asn2875Thr)
c.363+10108T>G
 dbSNP gnomAD v3 gnomAD v4
6g.63721470T=CA1633381922EYS,PHF3c.*7762T= (n.*7762T=)
c.8561A= (p.Asn2854=)
c.8624A= (p.Asn2875=)
c.363+10108T=
6g.63721471T>ACA364384490EYS,PHF3c.*7763T>A (n.*7763T>A)
c.8560A>T (p.Asn2854Tyr)
c.8623A>T (p.Asn2875Tyr)
c.363+10109T>A
6g.63721471T>CCA364384491EYS,PHF3c.*7763T>C (n.*7763T>C)
c.8560A>G (p.Asn2854Asp)
c.8623A>G (p.Asn2875Asp)
c.363+10109T>C
6g.63721471T>GCA364384492EYS,PHF3c.*7763T>G (n.*7763T>G)
c.8560A>C (p.Asn2854His)
c.8623A>C (p.Asn2875His)
c.363+10109T>G
6g.63721472T>ACA450862270EYS,PHF3c.*7764T>A (n.*7764T>A)
c.8559A>T (p.Ile2853=)
c.8622A>T (p.Ile2874=)
c.363+10110T>A
6g.63721472T>CCA364384493EYS,PHF3c.*7764T>C (n.*7764T>C)
c.8559A>G (p.Ile2853Met)
c.8622A>G (p.Ile2874Met)
c.363+10110T>C
6g.63721472T>GCA450862271EYS,PHF3c.*7764T>G (n.*7764T>G)
c.8559A>C (p.Ile2853=)
c.8622A>C (p.Ile2874=)
c.363+10110T>G
6g.63721473A>CCA364384494EYS,PHF3c.*7765A>C (n.*7765A>C)
c.8558T>G (p.Ile2853Arg)
c.8621T>G (p.Ile2874Arg)
c.363+10111A>C
6g.63721473A>GCA364384495EYS,PHF3c.*7765A>G (n.*7765A>G)
c.8558T>C (p.Ile2853Thr)
c.8621T>C (p.Ile2874Thr)
c.363+10111A>G
6g.63721473A>TCA364384496EYS,PHF3c.*7765A>T (n.*7765A>T)
c.8558T>A (p.Ile2853Lys)
c.8621T>A (p.Ile2874Lys)
c.363+10111A>T
6g.63721474T>ACA364384498EYS,PHF3c.*7766T>A (n.*7766T>A)
c.8557A>T (p.Ile2853Leu)
c.8620A>T (p.Ile2874Leu)
c.363+10112T>A
6g.63721474T>CCA3876703EYS,PHF3c.*7766T>C (n.*7766T>C)
c.8557A>G (p.Ile2853Val)
c.8620A>G (p.Ile2874Val)
c.363+10112T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.63721474T>GCA364384497EYS,PHF3c.*7766T>G (n.*7766T>G)
c.8557A>C (p.Ile2853Leu)
c.8620A>C (p.Ile2874Leu)
c.363+10112T>G
 COSMIC
6g.63721474T=CA1633381924EYS,PHF3c.*7766T= (n.*7766T=)
c.8557A= (p.Ile2853=)
c.8620A= (p.Ile2874=)
c.363+10112T=
6g.63721475G>ACA140236846EYS,PHF3c.*7767G>A (n.*7767G>A)
c.8556C>T (p.Ile2852=)
c.8619C>T (p.Ile2873=)
c.363+10113G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721475G>CCA364384499EYS,PHF3c.*7767G>C (n.*7767G>C)
c.8556C>G (p.Ile2852Met)
c.8619C>G (p.Ile2873Met)
c.363+10113G>C
6g.63721475G=CA1633381926EYS,PHF3c.*7767G= (n.*7767G=)
c.8556C= (p.Ile2852=)
c.8619C= (p.Ile2873=)
c.363+10113G=
6g.63721475G>TCA3876704EYS,PHF3c.*7767G>T (n.*7767G>T)
c.8556C>A (p.Ile2852=)
c.8619C>A (p.Ile2873=)
c.363+10113G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.63721476A=CA1633381928EYS,PHF3c.*7768A= (n.*7768A=)
c.8555T= (p.Ile2852=)
c.8618T= (p.Ile2873=)
c.363+10114A=
6g.63721476A>CCA364384500EYS,PHF3c.*7768A>C (n.*7768A>C)
c.8555T>G (p.Ile2852Ser)
c.8618T>G (p.Ile2873Ser)
c.363+10114A>C
6g.63721476A>GCA364384501EYS,PHF3c.*7768A>G (n.*7768A>G)
c.8555T>C (p.Ile2852Thr)
c.8618T>C (p.Ile2873Thr)
c.363+10114A>G
 dbSNP
6g.63721476A>TCA364384502EYS,PHF3c.*7768A>T (n.*7768A>T)
c.8555T>A (p.Ile2852Asn)
c.8618T>A (p.Ile2873Asn)
c.363+10114A>T
6g.63721477T>ACA364384503EYS,PHF3c.*7769T>A (n.*7769T>A)
c.8554A>T (p.Ile2852Phe)
c.8617A>T (p.Ile2873Phe)
c.363+10115T>A
6g.63721477T>CCA364384504EYS,PHF3c.*7769T>C (n.*7769T>C)
c.8554A>G (p.Ile2852Val)
c.8617A>G (p.Ile2873Val)
c.363+10115T>C
 dbSNP gnomAD v2 gnomAD v4
6g.63721477T>GCA364384505EYS,PHF3c.*7769T>G (n.*7769T>G)
c.8554A>C (p.Ile2852Leu)
c.8617A>C (p.Ile2873Leu)
c.363+10115T>G
6g.63721477T=CA1633381930EYS,PHF3c.*7769T= (n.*7769T=)
c.8554A= (p.Ile2852=)
c.8617A= (p.Ile2873=)
c.363+10115T=
6g.63721478A>CCA450862276EYS,PHF3c.*7770A>C (n.*7770A>C)
c.8553T>G (p.Val2851=)
c.8616T>G (p.Val2872=)
c.363+10116A>C
6g.63721478A>GCA450862277EYS,PHF3c.*7770A>G (n.*7770A>G)
c.8553T>C (p.Val2851=)
c.8616T>C (p.Val2872=)
c.363+10116A>G
6g.63721478A>TCA450862278EYS,PHF3c.*7770A>T (n.*7770A>T)
c.8553T>A (p.Val2851=)
c.8616T>A (p.Val2872=)
c.363+10116A>T
6g.63721479A>CCA364384506EYS,PHF3c.*7771A>C (n.*7771A>C)
c.8552T>G (p.Val2851Gly)
c.8615T>G (p.Val2872Gly)
c.363+10117A>C
6g.63721479A>GCA364384507EYS,PHF3c.*7771A>G (n.*7771A>G)
c.8552T>C (p.Val2851Ala)
c.8615T>C (p.Val2872Ala)
c.363+10117A>G
6g.63721479A>TCA364384508EYS,PHF3c.*7771A>T (n.*7771A>T)
c.8552T>A (p.Val2851Asp)
c.8615T>A (p.Val2872Asp)
c.363+10117A>T
6g.63721480C>ACA364384509EYS,PHF3c.*7772C>A (n.*7772C>A)
c.8551G>T (p.Val2851Phe)
c.8614G>T (p.Val2872Phe)
c.363+10118C>A
 gnomAD v4
6g.63721480C>GCA364384510EYS,PHF3c.*7772C>G (n.*7772C>G)
c.8551G>C (p.Val2851Leu)
c.8614G>C (p.Val2872Leu)
c.363+10118C>G
6g.63721480C>TCA364384511EYS,PHF3c.*7772C>T (n.*7772C>T)
c.8551G>A (p.Val2851Ile)
c.8614G>A (p.Val2872Ile)
c.363+10118C>T
 gnomAD v4
6g.63721481T>ACA364384512EYS,PHF3c.*7773T>A (n.*7773T>A)
c.8550A>T (p.Gln2850His)
c.8613A>T (p.Gln2871His)
c.363+10119T>A
6g.63721481T>CCA450862282EYS,PHF3c.*7773T>C (n.*7773T>C)
c.8550A>G (p.Gln2850=)
c.8613A>G (p.Gln2871=)
c.363+10119T>C
6g.63721481T>GCA364384513EYS,PHF3c.*7773T>G (n.*7773T>G)
c.8550A>C (p.Gln2850His)
c.8613A>C (p.Gln2871His)
c.363+10119T>G
6g.63721482T>ACA364384514EYS,PHF3c.*7774T>A (n.*7774T>A)
c.8549A>T (p.Gln2850Leu)
c.8612A>T (p.Gln2871Leu)
c.363+10120T>A
6g.63721482T>CCA364384515EYS,PHF3c.*7774T>C (n.*7774T>C)
c.8549A>G (p.Gln2850Arg)
c.8612A>G (p.Gln2871Arg)
c.363+10120T>C
6g.63721482T>GCA364384516EYS,PHF3c.*7774T>G (n.*7774T>G)
c.8549A>C (p.Gln2850Pro)
c.8612A>C (p.Gln2871Pro)
c.363+10120T>G
6g.63721483G>ACA364384517EYS,PHF3c.*7775G>A (n.*7775G>A)
c.8548C>T (p.Gln2850Ter)
c.8611C>T (p.Gln2871Ter)
c.363+10121G>A
 gnomAD v4
6g.63721483G>CCA364384518EYS,PHF3c.*7775G>C (n.*7775G>C)
c.8548C>G (p.Gln2850Glu)
c.8611C>G (p.Gln2871Glu)
c.363+10121G>C
6g.63721483G>TCA364384519EYS,PHF3c.*7775G>T (n.*7775G>T)
c.8548C>A (p.Gln2850Lys)
c.8611C>A (p.Gln2871Lys)
c.363+10121G>T
6g.63721484T>ACA450862287EYS,PHF3c.*7776T>A (n.*7776T>A)
c.8547A>T (p.Arg2849=)
c.8610A>T (p.Arg2870=)
c.363+10122T>A
6g.63721484T>CCA450862284EYS,PHF3c.*7776T>C (n.*7776T>C)
c.8547A>G (p.Arg2849=)
c.8610A>G (p.Arg2870=)
c.363+10122T>C
6g.63721484T>GCA450862285EYS,PHF3c.*7776T>G (n.*7776T>G)
c.8547A>C (p.Arg2849=)
c.8610A>C (p.Arg2870=)
c.363+10122T>G
6g.63721485C>ACA364384520EYS,PHF3c.*7777C>A (n.*7777C>A)
c.8546G>T (p.Arg2849Leu)
c.8609G>T (p.Arg2870Leu)
c.363+10123C>A
 gnomAD v4
6g.63721485C=CA1633381932EYS,PHF3c.*7777C= (n.*7777C=)
c.8546G= (p.Arg2849=)
c.8609G= (p.Arg2870=)
c.363+10123C=
6g.63721485C>GCA364384521EYS,PHF3c.*7777C>G (n.*7777C>G)
c.8546G>C (p.Arg2849Pro)
c.8609G>C (p.Arg2870Pro)
c.363+10123C>G
6g.63721485C>TCA364384522EYS,PHF3c.*7777C>T (n.*7777C>T)
c.8546G>A (p.Arg2849Gln)
c.8609G>A (p.Arg2870Gln)
c.363+10123C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721486G>ACA364384523EYS,PHF3c.*7778G>A (n.*7778G>A)
c.8545C>T (p.Arg2849Ter)
c.8608C>T (p.Arg2870Ter)
c.363+10124G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721486G>CCA364384524EYS,PHF3c.*7778G>C (n.*7778G>C)
c.8545C>G (p.Arg2849Gly)
c.8608C>G (p.Arg2870Gly)
c.363+10124G>C
6g.63721486G=CA1633381934EYS,PHF3c.*7778G= (n.*7778G=)
c.8545C= (p.Arg2849=)
c.8608C= (p.Arg2870=)
c.363+10124G=
6g.63721486G>TCA450862291EYS,PHF3c.*7778G>T (n.*7778G>T)
c.8545C>A (p.Arg2849=)
c.8608C>A (p.Arg2870=)
c.363+10124G>T
 ClinVar
6g.63721486_63721489delCA2771457325EYS,PHF3c.*7778_*7781del (n.*7778_*7781del)
c.8542_8545del (p.Ile2848AspfsTer5)
c.8605_8608del (p.Ile2869AspfsTer5)
c.363+10124_363+10127del
6g.63721487G>ACA450862292EYS,PHF3c.*7779G>A (n.*7779G>A)
c.8544C>T (p.Ile2848=)
c.8607C>T (p.Ile2869=)
c.363+10125G>A
6g.63721487G>CCA364384525EYS,PHF3c.*7779G>C (n.*7779G>C)
c.8544C>G (p.Ile2848Met)
c.8607C>G (p.Ile2869Met)
c.363+10125G>C
6g.63721487G>TCA450862294EYS,PHF3c.*7779G>T (n.*7779G>T)
c.8544C>A (p.Ile2848=)
c.8607C>A (p.Ile2869=)
c.363+10125G>T
 ClinVar
6g.63721488delCA2499218460EYS,PHF3c.*7780del (n.*7780del)
c.8543del (p.Ile2848ThrfsTer6)
c.8606del (p.Ile2869ThrfsTer6)
c.363+10126del
 ClinVar dbSNP
6g.63721488A>CCA364384528EYS,PHF3c.*7780A>C (n.*7780A>C)
c.8543T>G (p.Ile2848Ser)
c.8606T>G (p.Ile2869Ser)
c.363+10126A>C
 ClinVar dbSNP
6g.63721488A>GCA364384527EYS,PHF3c.*7780A>G (n.*7780A>G)
c.8543T>C (p.Ile2848Thr)
c.8606T>C (p.Ile2869Thr)
c.363+10126A>G
6g.63721488A>TCA364384526EYS,PHF3c.*7780A>T (n.*7780A>T)
c.8543T>A (p.Ile2848Asn)
c.8606T>A (p.Ile2869Asn)
c.363+10126A>T
6g.63721489T>ACA364384530EYS,PHF3c.*7781T>A (n.*7781T>A)
c.8542A>T (p.Ile2848Phe)
c.8605A>T (p.Ile2869Phe)
c.363+10127T>A
6g.63721489T>CCA364384529EYS,PHF3c.*7781T>C (n.*7781T>C)
c.8542A>G (p.Ile2848Val)
c.8605A>G (p.Ile2869Val)
c.363+10127T>C
6g.63721489T>GCA364384531EYS,PHF3c.*7781T>G (n.*7781T>G)
c.8542A>C (p.Ile2848Leu)
c.8605A>C (p.Ile2869Leu)
c.363+10127T>G
6g.63721490A>CCA364384532EYS,PHF3c.*7782A>C (n.*7782A>C)
c.8541T>G (p.Cys2847Trp)
c.8604T>G (p.Cys2868Trp)
c.363+10128A>C
6g.63721490A>GCA450862298EYS,PHF3c.*7782A>G (n.*7782A>G)
c.8541T>C (p.Cys2847=)
c.8604T>C (p.Cys2868=)
c.363+10128A>G
6g.63721490A>TCA364384533EYS,PHF3c.*7782A>T (n.*7782A>T)
c.8541T>A (p.Cys2847Ter)
c.8604T>A (p.Cys2868Ter)
c.363+10128A>T
 ClinVar
6g.63721491C>ACA364384534EYS,PHF3c.*7783C>A (n.*7783C>A)
c.8540G>T (p.Cys2847Phe)
c.8603G>T (p.Cys2868Phe)
c.363+10129C>A
6g.63721491C>GCA364384535EYS,PHF3c.*7783C>G (n.*7783C>G)
c.8540G>C (p.Cys2847Ser)
c.8603G>C (p.Cys2868Ser)
c.363+10129C>G
6g.63721491C>TCA364384536EYS,PHF3c.*7783C>T (n.*7783C>T)
c.8540G>A (p.Cys2847Tyr)
c.8603G>A (p.Cys2868Tyr)
c.363+10129C>T
6g.63721492A>CCA364384537EYS,PHF3c.*7784A>C (n.*7784A>C)
c.8539T>G (p.Cys2847Gly)
c.8602T>G (p.Cys2868Gly)
c.363+10130A>C
6g.63721492A>GCA364384538EYS,PHF3c.*7784A>G (n.*7784A>G)
c.8539T>C (p.Cys2847Arg)
c.8602T>C (p.Cys2868Arg)
c.363+10130A>G
6g.63721492A>TCA364384539EYS,PHF3c.*7784A>T (n.*7784A>T)
c.8539T>A (p.Cys2847Ser)
c.8602T>A (p.Cys2868Ser)
c.363+10130A>T
6g.63721493G>ACA450862304EYS,PHF3c.*7785G>A (n.*7785G>A)
c.8538C>T (p.Gly2846=)
c.8601C>T (p.Gly2867=)
c.363+10131G>A
 gnomAD v4
6g.63721493G>CCA450862303EYS,PHF3c.*7785G>C (n.*7785G>C)
c.8538C>G (p.Gly2846=)
c.8601C>G (p.Gly2867=)
c.363+10131G>C
6g.63721493G>TCA450862302EYS,PHF3c.*7785G>T (n.*7785G>T)
c.8538C>A (p.Gly2846=)
c.8601C>A (p.Gly2867=)
c.363+10131G>T
6g.63721494C>ACA364384540EYS,PHF3c.*7786C>A (n.*7786C>A)
c.8537G>T (p.Gly2846Val)
c.8600G>T (p.Gly2867Val)
c.363+10132C>A
6g.63721494C>GCA364384541EYS,PHF3c.*7786C>G (n.*7786C>G)
c.8537G>C (p.Gly2846Ala)
c.8600G>C (p.Gly2867Ala)
c.363+10132C>G
6g.63721494C>TCA364384542EYS,PHF3c.*7786C>T (n.*7786C>T)
c.8537G>A (p.Gly2846Asp)
c.8600G>A (p.Gly2867Asp)
c.363+10132C>T
 dbSNP gnomAD v4
6g.63721495C>ACA364384543EYS,PHF3c.*7787C>A (n.*7787C>A)
c.8536G>T (p.Gly2846Cys)
c.8599G>T (p.Gly2867Cys)
c.363+10133C>A
6g.63721495C>GCA364384544EYS,PHF3c.*7787C>G (n.*7787C>G)
c.8536G>C (p.Gly2846Arg)
c.8599G>C (p.Gly2867Arg)
c.363+10133C>G
6g.63721495C>TCA364384545EYS,PHF3c.*7787C>T (n.*7787C>T)
c.8536G>A (p.Gly2846Ser)
c.8599G>A (p.Gly2867Ser)
c.363+10133C>T
 gnomAD v4
6g.63721496T>ACA364384546EYS,PHF3c.*7788T>A (n.*7788T>A)
c.8535A>T (p.Gln2845His)
c.8598A>T (p.Gln2866His)
c.363+10134T>A
6g.63721496T>CCA450862305EYS,PHF3c.*7788T>C (n.*7788T>C)
c.8535A>G (p.Gln2845=)
c.8598A>G (p.Gln2866=)
c.363+10134T>C
6g.63721496T>GCA364384547EYS,PHF3c.*7788T>G (n.*7788T>G)
c.8535A>C (p.Gln2845His)
c.8598A>C (p.Gln2866His)
c.363+10134T>G
6g.63721496_63721499delCA2771457326EYS,PHF3c.*7788_*7791del (n.*7788_*7791del)
c.8532_8535del (p.Phe2844LeufsTer9)
c.8595_8598del (p.Phe2865LeufsTer9)
c.363+10134_363+10137del
6g.63721497T>ACA364384548EYS,PHF3c.*7789T>A (n.*7789T>A)
c.8534A>T (p.Gln2845Leu)
c.8597A>T (p.Gln2866Leu)
c.363+10135T>A
6g.63721497T>CCA364384549EYS,PHF3c.*7789T>C (n.*7789T>C)
c.8534A>G (p.Gln2845Arg)
c.8597A>G (p.Gln2866Arg)
c.363+10135T>C
 ClinVar
6g.63721497T>GCA364384550EYS,PHF3c.*7789T>G (n.*7789T>G)
c.8534A>C (p.Gln2845Pro)
c.8597A>C (p.Gln2866Pro)
c.363+10135T>G
 ClinVar dbSNP
6g.63721498G>ACA364384551EYS,PHF3c.*7790G>A (n.*7790G>A)
c.8533C>T (p.Gln2845Ter)
c.8596C>T (p.Gln2866Ter)
c.363+10136G>A
6g.63721498G>CCA364384552EYS,PHF3c.*7790G>C (n.*7790G>C)
c.8533C>G (p.Gln2845Glu)
c.8596C>G (p.Gln2866Glu)
c.363+10136G>C
 dbSNP
6g.63721498G=CA1633381937EYS,PHF3c.*7790G= (n.*7790G=)
c.8533C= (p.Gln2845=)
c.8596C= (p.Gln2866=)
c.363+10136G=
6g.63721498G>TCA364384553EYS,PHF3c.*7790G>T (n.*7790G>T)
c.8533C>A (p.Gln2845Lys)
c.8596C>A (p.Gln2866Lys)
c.363+10136G>T
6g.63721499A>CCA364384555EYS,PHF3c.*7791A>C (n.*7791A>C)
c.8532T>G (p.Phe2844Leu)
c.8595T>G (p.Phe2865Leu)
c.363+10137A>C
6g.63721499A>GCA450862306EYS,PHF3c.*7791A>G (n.*7791A>G)
c.8532T>C (p.Phe2844=)
c.8595T>C (p.Phe2865=)
c.363+10137A>G
6g.63721499A>TCA364384554EYS,PHF3c.*7791A>T (n.*7791A>T)
c.8532T>A (p.Phe2844Leu)
c.8595T>A (p.Phe2865Leu)
c.363+10137A>T
6g.63721500A>CCA364384556EYS,PHF3c.*7792A>C (n.*7792A>C)
c.8531T>G (p.Phe2844Cys)
c.8594T>G (p.Phe2865Cys)
c.363+10138A>C
6g.63721500A>GCA364384557EYS,PHF3c.*7792A>G (n.*7792A>G)
c.8531T>C (p.Phe2844Ser)
c.8594T>C (p.Phe2865Ser)
c.363+10138A>G
6g.63721500A>TCA364384558EYS,PHF3c.*7792A>T (n.*7792A>T)
c.8531T>A (p.Phe2844Tyr)
c.8594T>A (p.Phe2865Tyr)
c.363+10138A>T
6g.63721501A=CA1633381940EYS,PHF3c.*7793A= (n.*7793A=)
c.8530T= (p.Phe2844=)
c.8593T= (p.Phe2865=)
c.363+10139A=
6g.63721501A>CCA364384559EYS,PHF3c.*7793A>C (n.*7793A>C)
c.8530T>G (p.Phe2844Val)
c.8593T>G (p.Phe2865Val)
c.363+10139A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.63721501A>GCA364384560EYS,PHF3c.*7793A>G (n.*7793A>G)
c.8530T>C (p.Phe2844Leu)
c.8593T>C (p.Phe2865Leu)
c.363+10139A>G
 dbSNP
6g.63721501A>TCA364384561EYS,PHF3c.*7793A>T (n.*7793A>T)
c.8530T>A (p.Phe2844Ile)
c.8593T>A (p.Phe2865Ile)
c.363+10139A>T
6g.63721502A>CCA450862307EYS,PHF3c.*7794A>C (n.*7794A>C)
c.8529T>G (p.Gly2843=)
c.8592T>G (p.Gly2864=)
c.363+10140A>C
6g.63721502A>GCA450862308EYS,PHF3c.*7794A>G (n.*7794A>G)
c.8529T>C (p.Gly2843=)
c.8592T>C (p.Gly2864=)
c.363+10140A>G
6g.63721502A>TCA450862310EYS,PHF3c.*7794A>T (n.*7794A>T)
c.8529T>A (p.Gly2843=)
c.8592T>A (p.Gly2864=)
c.363+10140A>T
6g.63721504_63721507delCA2771457327EYS,PHF3c.*7796_*7799del (n.*7796_*7799del)
c.8526_8529del (p.Gly2843PhefsTer10)
c.8589_8592del (p.Gly2864PhefsTer10)
c.363+10142_363+10145del
6g.63721503C>ACA364384562EYS,PHF3c.*7795C>A (n.*7795C>A)
c.8528G>T (p.Gly2843Val)
c.8591G>T (p.Gly2864Val)
c.363+10141C>A
6g.63721503C>GCA364384564EYS,PHF3c.*7795C>G (n.*7795C>G)
c.8528G>C (p.Gly2843Ala)
c.8591G>C (p.Gly2864Ala)
c.363+10141C>G
6g.63721503C>TCA364384563EYS,PHF3c.*7795C>T (n.*7795C>T)
c.8528G>A (p.Gly2843Asp)
c.8591G>A (p.Gly2864Asp)
c.363+10141C>T
6g.63721504C>ACA364384565EYS,PHF3c.*7796C>A (n.*7796C>A)
c.8527G>T (p.Gly2843Cys)
c.8590G>T (p.Gly2864Cys)
c.363+10142C>A
 gnomAD v4
6g.63721504C=CA1633381943EYS,PHF3c.*7796C= (n.*7796C=)
c.8527G= (p.Gly2843=)
c.8590G= (p.Gly2864=)
c.363+10142C=
6g.63721504C>GCA364384566EYS,PHF3c.*7796C>G (n.*7796C>G)
c.8527G>C (p.Gly2843Arg)
c.8590G>C (p.Gly2864Arg)
c.363+10142C>G
 ClinVar dbSNP
6g.63721504C>TCA364384567EYS,PHF3c.*7796C>T (n.*7796C>T)
c.8527G>A (p.Gly2843Ser)
c.8590G>A (p.Gly2864Ser)
c.363+10142C>T
 dbSNP gnomAD v3 gnomAD v4
6g.63721505T>ACA450862313EYS,PHF3c.*7797T>A (n.*7797T>A)
c.8526A>T (p.Val2842=)
c.8589A>T (p.Val2863=)
c.363+10143T>A
6g.63721505T>CCA450862314EYS,PHF3c.*7797T>C (n.*7797T>C)
c.8526A>G (p.Val2842=)
c.8589A>G (p.Val2863=)
c.363+10143T>C
 dbSNP
6g.63721505T>GCA450862315EYS,PHF3c.*7797T>G (n.*7797T>G)
c.8526A>C (p.Val2842=)
c.8589A>C (p.Val2863=)
c.363+10143T>G
6g.63721505T=CA1633381947EYS,PHF3c.*7797T= (n.*7797T=)
c.8526A= (p.Val2842=)
c.8589A= (p.Val2863=)
c.363+10143T=
6g.63721505_63721509delinsTACAGCA1633381945EYS,PHF3c.*7797_*7801delinsTACAG (n.*7797_*7801delinsTACAG)
c.8522_8526delinsCTGTA (p.Pro2841=)
c.8585_8589delinsCTGTA (p.Pro2862=)
c.363+10143_363+10147delinsTACAG
6g.63721506A=CA1633381950EYS,PHF3c.*7798A= (n.*7798A=)
c.8525T= (p.Val2842=)
c.8588T= (p.Val2863=)
c.363+10144A=
6g.63721506A>CCA364384568EYS,PHF3c.*7798A>C (n.*7798A>C)
c.8525T>G (p.Val2842Gly)
c.8588T>G (p.Val2863Gly)
c.363+10144A>C
6g.63721506A>GCA364384569EYS,PHF3c.*7798A>G (n.*7798A>G)
c.8525T>C (p.Val2842Ala)
c.8588T>C (p.Val2863Ala)
c.363+10144A>G
 dbSNP gnomAD v2
6g.63721506A>TCA364384570EYS,PHF3c.*7798A>T (n.*7798A>T)
c.8525T>A (p.Val2842Glu)
c.8588T>A (p.Val2863Glu)
c.363+10144A>T
6g.63721506_63721509delCA916082856EYS,PHF3c.*7798_*7801del (n.*7798_*7801del)
c.8522_8525del (p.Pro2841GlnfsTer12)
c.8585_8588del (p.Pro2862GlnfsTer12)
c.363+10144_363+10147del
 ClinVar dbSNP
6g.63721507C>ACA364384571EYS,PHF3c.*7799C>A (n.*7799C>A)
c.8524G>T (p.Val2842Leu)
c.8587G>T (p.Val2863Leu)
c.363+10145C>A
6g.63721507C>GCA364384572EYS,PHF3c.*7799C>G (n.*7799C>G)
c.8524G>C (p.Val2842Leu)
c.8587G>C (p.Val2863Leu)
c.363+10145C>G
6g.63721507C>TCA364384573EYS,PHF3c.*7799C>T (n.*7799C>T)
c.8524G>A (p.Val2842Ile)
c.8587G>A (p.Val2863Ile)
c.363+10145C>T
6g.63721508A=CA1633381952EYS,PHF3c.*7800A= (n.*7800A=)
c.8523T= (p.Pro2841=)
c.8586T= (p.Pro2862=)
c.363+10146A=
6g.63721508A>CCA450862317EYS,PHF3c.*7800A>C (n.*7800A>C)
c.8523T>G (p.Pro2841=)
c.8586T>G (p.Pro2862=)
c.363+10146A>C
6g.63721508A>GCA450862318EYS,PHF3c.*7800A>G (n.*7800A>G)
c.8523T>C (p.Pro2841=)
c.8586T>C (p.Pro2862=)
c.363+10146A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721508A>TCA450862319EYS,PHF3c.*7800A>T (n.*7800A>T)
c.8523T>A (p.Pro2841=)
c.8586T>A (p.Pro2862=)
c.363+10146A>T
6g.63721509G>ACA364384574EYS,PHF3c.*7801G>A (n.*7801G>A)
c.8522C>T (p.Pro2841Leu)
c.8585C>T (p.Pro2862Leu)
c.363+10147G>A
6g.63721509G>CCA364384575EYS,PHF3c.*7801G>C (n.*7801G>C)
c.8522C>G (p.Pro2841Arg)
c.8585C>G (p.Pro2862Arg)
c.363+10147G>C
6g.63721509G>TCA364384576EYS,PHF3c.*7801G>T (n.*7801G>T)
c.8522C>A (p.Pro2841His)
c.8585C>A (p.Pro2862His)
c.363+10147G>T
6g.63721510G>ACA364384578EYS,PHF3c.*7802G>A (n.*7802G>A)
c.8521C>T (p.Pro2841Ser)
c.8584C>T (p.Pro2862Ser)
c.363+10148G>A
6g.63721510G>CCA364384579EYS,PHF3c.*7802G>C (n.*7802G>C)
c.8521C>G (p.Pro2841Ala)
c.8584C>G (p.Pro2862Ala)
c.363+10148G>C
6g.63721510G=CA1633381954EYS,PHF3c.*7802G= (n.*7802G=)
c.8521C= (p.Pro2841=)
c.8584C= (p.Pro2862=)
c.363+10148G=
6g.63721510G>TCA364384577EYS,PHF3c.*7802G>T (n.*7802G>T)
c.8521C>A (p.Pro2841Thr)
c.8584C>A (p.Pro2862Thr)
c.363+10148G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721511T>ACA364384580EYS,PHF3c.*7803T>A (n.*7803T>A)
c.8520A>T (p.Glu2840Asp)
c.8583A>T (p.Glu2861Asp)
c.363+10149T>A
6g.63721511T>CCA450862322EYS,PHF3c.*7803T>C (n.*7803T>C)
c.8520A>G (p.Glu2840=)
c.8583A>G (p.Glu2861=)
c.363+10149T>C
 ClinVar dbSNP
6g.63721511T>GCA364384581EYS,PHF3c.*7803T>G (n.*7803T>G)
c.8520A>C (p.Glu2840Asp)
c.8583A>C (p.Glu2861Asp)
c.363+10149T>G
6g.63721512T>ACA364384582EYS,PHF3c.*7804T>A (n.*7804T>A)
c.8519A>T (p.Glu2840Val)
c.8582A>T (p.Glu2861Val)
c.363+10150T>A
6g.63721512T>CCA364384583EYS,PHF3c.*7804T>C (n.*7804T>C)
c.8519A>G (p.Glu2840Gly)
c.8582A>G (p.Glu2861Gly)
c.363+10150T>C
 ClinVar dbSNP
6g.63721512T>GCA364384584EYS,PHF3c.*7804T>G (n.*7804T>G)
c.8519A>C (p.Glu2840Ala)
c.8582A>C (p.Glu2861Ala)
c.363+10150T>G
6g.63721512T=CA1633381957EYS,PHF3c.*7804T= (n.*7804T=)
c.8519A= (p.Glu2840=)
c.8582A= (p.Glu2861=)
c.363+10150T=

Number of alleles fetched