Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.63721343delCA2557904147EYS,PHF3c.*7635del (n.*7635del)
c.8692del (p.Ser2898LeufsTer20)
c.8755del (p.Ser2919LeufsTer20)
c.363+9981del
 ClinVar dbSNP
6g.63721342_63721343delCA2697553507EYS,PHF3c.*7634_*7635del (n.*7634_*7635del)
c.8691_8692del (p.Ser2898LeufsTer13)
c.8754_8755del (p.Ser2919LeufsTer13)
c.363+9980_363+9981del
 ClinVar
6g.63721340A=CA1633381767EYS,PHF3c.*7632A= (n.*7632A=)
c.8691T= (p.Phe2897=)
c.8754T= (p.Phe2918=)
c.363+9978A=
6g.63721340A>CCA364384197EYS,PHF3c.*7632A>C (n.*7632A>C)
c.8691T>G (p.Phe2897Leu)
c.8754T>G (p.Phe2918Leu)
c.363+9978A>C
6g.63721340A>GCA450862502EYS,PHF3c.*7632A>G (n.*7632A>G)
c.8691T>C (p.Phe2897=)
c.8754T>C (p.Phe2918=)
c.363+9978A>G
 dbSNP gnomAD v2
6g.63721340A>TCA364384196EYS,PHF3c.*7632A>T (n.*7632A>T)
c.8691T>A (p.Phe2897Leu)
c.8754T>A (p.Phe2918Leu)
c.363+9978A>T
6g.63721341A>CCA364384198EYS,PHF3c.*7633A>C (n.*7633A>C)
c.8690T>G (p.Phe2897Cys)
c.8753T>G (p.Phe2918Cys)
c.363+9979A>C
6g.63721341A>GCA364384199EYS,PHF3c.*7633A>G (n.*7633A>G)
c.8690T>C (p.Phe2897Ser)
c.8753T>C (p.Phe2918Ser)
c.363+9979A>G
6g.63721341A>TCA364384200EYS,PHF3c.*7633A>T (n.*7633A>T)
c.8690T>A (p.Phe2897Tyr)
c.8753T>A (p.Phe2918Tyr)
c.363+9979A>T
6g.63721342A=CA1633381770EYS,PHF3c.*7634A= (n.*7634A=)
c.8689T= (p.Phe2897=)
c.8752T= (p.Phe2918=)
c.363+9980A=
6g.63721342A>CCA364384201EYS,PHF3c.*7634A>C (n.*7634A>C)
c.8689T>G (p.Phe2897Val)
c.8752T>G (p.Phe2918Val)
c.363+9980A>C
6g.63721342A>GCA364384202EYS,PHF3c.*7634A>G (n.*7634A>G)
c.8689T>C (p.Phe2897Leu)
c.8752T>C (p.Phe2918Leu)
c.363+9980A>G
 ClinVar dbSNP
6g.63721342A>TCA364384203EYS,PHF3c.*7634A>T (n.*7634A>T)
c.8689T>A (p.Phe2897Ile)
c.8752T>A (p.Phe2918Ile)
c.363+9980A>T
6g.63721343A>CCA450862506EYS,PHF3c.*7635A>C (n.*7635A>C)
c.8688T>G (p.Thr2896=)
c.8751T>G (p.Thr2917=)
c.363+9981A>C
 gnomAD v4
6g.63721343A>GCA450862507EYS,PHF3c.*7635A>G (n.*7635A>G)
c.8688T>C (p.Thr2896=)
c.8751T>C (p.Thr2917=)
c.363+9981A>G
6g.63721343A>TCA450862508EYS,PHF3c.*7635A>T (n.*7635A>T)
c.8688T>A (p.Thr2896=)
c.8751T>A (p.Thr2917=)
c.363+9981A>T
6g.63721343_63721346delinsAGTTCA1633381772EYS,PHF3c.*7635_*7638delinsAGTT (n.*7635_*7638delinsAGTT)
c.8685_8688delinsAACT (p.Thr2895=)
c.8748_8751delinsAACT (p.Thr2916=)
c.363+9981_363+9984delinsAGTT
6g.63721344delCA2679279890EYS,PHF3c.*7636del (n.*7636del)
c.8687del (p.Thr2896IlefsTer22)
c.8750del (p.Thr2917IlefsTer22)
c.363+9982del
 ClinVar gnomAD v4
6g.63721344G>ACA364384204EYS,PHF3c.*7636G>A (n.*7636G>A)
c.8687C>T (p.Thr2896Ile)
c.8750C>T (p.Thr2917Ile)
c.363+9982G>A
6g.63721344G>CCA364384206EYS,PHF3c.*7636G>C (n.*7636G>C)
c.8687C>G (p.Thr2896Ser)
c.8750C>G (p.Thr2917Ser)
c.363+9982G>C
6g.63721344G=CA1633381776EYS,PHF3c.*7636G= (n.*7636G=)
c.8687C= (p.Thr2896=)
c.8750C= (p.Thr2917=)
c.363+9982G=
6g.63721344G>TCA364384205EYS,PHF3c.*7636G>T (n.*7636G>T)
c.8687C>A (p.Thr2896Asn)
c.8750C>A (p.Thr2917Asn)
c.363+9982G>T
 dbSNP
6g.63721346_63721348delCA568118951EYS,PHF3c.*7638_*7640del (n.*7638_*7640del)
c.8685_8687del (p.Thr2896del)
c.8748_8750del (p.Thr2917del)
c.363+9984_363+9986del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721345T>ACA364384207EYS,PHF3c.*7637T>A (n.*7637T>A)
c.8686A>T (p.Thr2896Ser)
c.8749A>T (p.Thr2917Ser)
c.363+9983T>A
6g.63721345T>CCA364384208EYS,PHF3c.*7637T>C (n.*7637T>C)
c.8686A>G (p.Thr2896Ala)
c.8749A>G (p.Thr2917Ala)
c.363+9983T>C
6g.63721345T>GCA364384209EYS,PHF3c.*7637T>G (n.*7637T>G)
c.8686A>C (p.Thr2896Pro)
c.8749A>C (p.Thr2917Pro)
c.363+9983T>G
6g.63721345T=CA1633381778EYS,PHF3c.*7637T= (n.*7637T=)
c.8686A= (p.Thr2896=)
c.8749A= (p.Thr2917=)
c.363+9983T=
6g.63721346T>ACA450862515EYS,PHF3c.*7638T>A (n.*7638T>A)
c.8685A>T (p.Thr2895=)
c.8748A>T (p.Thr2916=)
c.363+9984T>A
6g.63721346T>CCA450862512EYS,PHF3c.*7638T>C (n.*7638T>C)
c.8685A>G (p.Thr2895=)
c.8748A>G (p.Thr2916=)
c.363+9984T>C
6g.63721346T>GCA450862513EYS,PHF3c.*7638T>G (n.*7638T>G)
c.8685A>C (p.Thr2895=)
c.8748A>C (p.Thr2916=)
c.363+9984T>G
6g.63721347_63721353dupCA3876699EYS,PHF3c.*7639_*7645dup (n.*7639_*7645dup)
c.8679_8685dup (p.Thr2896TrpfsTer18)
c.8742_8748dup (p.Thr2917TrpfsTer18)
c.363+9985_363+9991dup
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.63721347G>ACA364384210EYS,PHF3c.*7639G>A (n.*7639G>A)
c.8684C>T (p.Thr2895Ile)
c.8747C>T (p.Thr2916Ile)
c.363+9985G>A
 gnomAD v4
6g.63721347G>CCA364384212EYS,PHF3c.*7639G>C (n.*7639G>C)
c.8684C>G (p.Thr2895Arg)
c.8747C>G (p.Thr2916Arg)
c.363+9985G>C
6g.63721347G>TCA364384211EYS,PHF3c.*7639G>T (n.*7639G>T)
c.8684C>A (p.Thr2895Lys)
c.8747C>A (p.Thr2916Lys)
c.363+9985G>T
6g.63721347_63721349delCA2544887115EYS,PHF3c.*7639_*7641del (n.*7639_*7641del)
c.8682_8684del (p.Thr2895del)
c.8745_8747del (p.Thr2916del)
c.363+9985_363+9987del
6g.63721348T>ACA364384213EYS,PHF3c.*7640T>A (n.*7640T>A)
c.8683A>T (p.Thr2895Ser)
c.8746A>T (p.Thr2916Ser)
c.363+9986T>A
6g.63721348T>CCA364384214EYS,PHF3c.*7640T>C (n.*7640T>C)
c.8683A>G (p.Thr2895Ala)
c.8746A>G (p.Thr2916Ala)
c.363+9986T>C
 dbSNP gnomAD v4
6g.63721348T>GCA364384215EYS,PHF3c.*7640T>G (n.*7640T>G)
c.8683A>C (p.Thr2895Pro)
c.8746A>C (p.Thr2916Pro)
c.363+9986T>G
 gnomAD v4
6g.63721348T=CA1633381781EYS,PHF3c.*7640T= (n.*7640T=)
c.8683A= (p.Thr2895=)
c.8746A= (p.Thr2916=)
c.363+9986T=
6g.63721349G>ACA450862521EYS,PHF3c.*7641G>A (n.*7641G>A)
c.8682C>T (p.Gly2894=)
c.8745C>T (p.Gly2915=)
c.363+9987G>A
 dbSNP gnomAD v2 gnomAD v4
6g.63721349G>CCA450862522EYS,PHF3c.*7641G>C (n.*7641G>C)
c.8682C>G (p.Gly2894=)
c.8745C>G (p.Gly2915=)
c.363+9987G>C
6g.63721349G=CA1633381782EYS,PHF3c.*7641G= (n.*7641G=)
c.8682C= (p.Gly2894=)
c.8745C= (p.Gly2915=)
c.363+9987G=
6g.63721349G>TCA450862524EYS,PHF3c.*7641G>T (n.*7641G>T)
c.8682C>A (p.Gly2894=)
c.8745C>A (p.Gly2915=)
c.363+9987G>T
6g.63721350C>ACA364384216EYS,PHF3c.*7642C>A (n.*7642C>A)
c.8681G>T (p.Gly2894Val)
c.8744G>T (p.Gly2915Val)
c.363+9988C>A
6g.63721350C>GCA364384217EYS,PHF3c.*7642C>G (n.*7642C>G)
c.8681G>C (p.Gly2894Ala)
c.8744G>C (p.Gly2915Ala)
c.363+9988C>G
6g.63721350C>TCA364384218EYS,PHF3c.*7642C>T (n.*7642C>T)
c.8681G>A (p.Gly2894Asp)
c.8744G>A (p.Gly2915Asp)
c.363+9988C>T
 gnomAD v4
6g.63721351C>ACA364384219EYS,PHF3c.*7643C>A (n.*7643C>A)
c.8680G>T (p.Gly2894Cys)
c.8743G>T (p.Gly2915Cys)
c.363+9989C>A
6g.63721351C=CA1633381785EYS,PHF3c.*7643C= (n.*7643C=)
c.8680G= (p.Gly2894=)
c.8743G= (p.Gly2915=)
c.363+9989C=
6g.63721351C>GCA364384220EYS,PHF3c.*7643C>G (n.*7643C>G)
c.8680G>C (p.Gly2894Arg)
c.8743G>C (p.Gly2915Arg)
c.363+9989C>G
6g.63721351C>TCA140236831EYS,PHF3c.*7643C>T (n.*7643C>T)
c.8680G>A (p.Gly2894Ser)
c.8743G>A (p.Gly2915Ser)
c.363+9989C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.63721352A=CA1633381787EYS,PHF3c.*7644A= (n.*7644A=)
c.8679T= (p.Asn2893=)
c.8742T= (p.Asn2914=)
c.363+9990A=
6g.63721352A>CCA364384221EYS,PHF3c.*7644A>C (n.*7644A>C)
c.8679T>G (p.Asn2893Lys)
c.8742T>G (p.Asn2914Lys)
c.363+9990A>C
6g.63721352A>GCA3876700EYS,PHF3c.*7644A>G (n.*7644A>G)
c.8679T>C (p.Asn2893=)
c.8742T>C (p.Asn2914=)
c.363+9990A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.63721352A>TCA364384222EYS,PHF3c.*7644A>T (n.*7644A>T)
c.8679T>A (p.Asn2893Lys)
c.8742T>A (p.Asn2914Lys)
c.363+9990A>T
 gnomAD v4
6g.63721352_63721353delinsATCA1633381789EYS,PHF3c.*7644_*7645delinsAT (n.*7644_*7645delinsAT)
c.8678_8679delinsAT (p.Asn2893=)
c.8741_8742delinsAT (p.Asn2914=)
c.363+9990_363+9991delinsAT
6g.63721352_63721353insCCGCA2504698354EYS,PHF3c.*7644_*7645insCCG (n.*7644_*7645insCCG)
c.8678_8679insCGG (p.Asn2893_Gly2894insGly)
c.8741_8742insCGG (p.Asn2914_Gly2915insGly)
c.363+9990_363+9991insCCG
6g.63721353T>ACA364384224EYS,PHF3c.*7645T>A (n.*7645T>A)
c.8678A>T (p.Asn2893Ile)
c.8741A>T (p.Asn2914Ile)
c.363+9991T>A
6g.63721353T>CCA140236832EYS,PHF3c.*7645T>C (n.*7645T>C)
c.8678A>G (p.Asn2893Ser)
c.8741A>G (p.Asn2914Ser)
c.363+9991T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721353T>GCA364384223EYS,PHF3c.*7645T>G (n.*7645T>G)
c.8678A>C (p.Asn2893Thr)
c.8741A>C (p.Asn2914Thr)
c.363+9991T>G
6g.63721353T=CA1633381793EYS,PHF3c.*7645T= (n.*7645T=)
c.8678A= (p.Asn2893=)
c.8741A= (p.Asn2914=)
c.363+9991T=
6g.63721355dupCA2573141295EYS,PHF3c.*7647dup (n.*7647dup)
c.8678dup (p.Asn2893LysfsTer19)
c.8741dup (p.Asn2914LysfsTer19)
c.363+9993dup
 ClinVar dbSNP
6g.63721355delCA658796781EYS,PHF3c.*7647del (n.*7647del)
c.8678del (p.Asn2893MetfsTer25)
c.8741del (p.Asn2914MetfsTer25)
c.363+9993del
 ClinVar dbSNP
6g.63721354T>ACA364384225EYS,PHF3c.*7646T>A (n.*7646T>A)
c.8677A>T (p.Asn2893Tyr)
c.8740A>T (p.Asn2914Tyr)
c.363+9992T>A
6g.63721354T>CCA364384227EYS,PHF3c.*7646T>C (n.*7646T>C)
c.8677A>G (p.Asn2893Asp)
c.8740A>G (p.Asn2914Asp)
c.363+9992T>C
6g.63721354T>GCA364384226EYS,PHF3c.*7646T>G (n.*7646T>G)
c.8677A>C (p.Asn2893His)
c.8740A>C (p.Asn2914His)
c.363+9992T>G
6g.63721354_63721355insAGCA2679279891EYS,PHF3c.*7646_*7647insAG (n.*7646_*7647insAG)
c.8676_8677insCT (p.Asn2893LeufsTer26)
c.8739_8740insCT (p.Asn2914LeufsTer26)
c.363+9992_363+9993insAG
 gnomAD v4
6g.63721355T>ACA450862536EYS,PHF3c.*7647T>A (n.*7647T>A)
c.8676A>T (p.Val2892=)
c.8739A>T (p.Val2913=)
c.363+9993T>A
6g.63721355T>CCA450862532EYS,PHF3c.*7647T>C (n.*7647T>C)
c.8676A>G (p.Val2892=)
c.8739A>G (p.Val2913=)
c.363+9993T>C
6g.63721355T>GCA450862533EYS,PHF3c.*7647T>G (n.*7647T>G)
c.8676A>C (p.Val2892=)
c.8739A>C (p.Val2913=)
c.363+9993T>G
 ClinVar dbSNP
6g.63721356A=CA1633381796EYS,PHF3c.*7648A= (n.*7648A=)
c.8675T= (p.Val2892=)
c.8738T= (p.Val2913=)
c.363+9994A=
6g.63721356A>CCA364384228EYS,PHF3c.*7648A>C (n.*7648A>C)
c.8675T>G (p.Val2892Gly)
c.8738T>G (p.Val2913Gly)
c.363+9994A>C
6g.63721356A>GCA364384229EYS,PHF3c.*7648A>G (n.*7648A>G)
c.8675T>C (p.Val2892Ala)
c.8738T>C (p.Val2913Ala)
c.363+9994A>G
6g.63721356A>TCA364384230EYS,PHF3c.*7648A>T (n.*7648A>T)
c.8675T>A (p.Val2892Glu)
c.8738T>A (p.Val2913Glu)
c.363+9994A>T
6g.63721356_63721357insAATGGCACATTCACCA568118954EYS,PHF3c.*7648_*7649insAATGGCACATTCAC (n.*7648_*7649insAATGGCACATTCAC)
c.8674_8675insGTGAATGTGCCATT (p.Val2892GlyfsTer6)
c.8737_8738insGTGAATGTGCCATT (p.Val2913GlyfsTer6)
c.363+9994_363+9995insAATGGCACATTCAC
 dbSNP gnomAD v2 gnomAD v4
6g.63721357C>ACA364384231EYS,PHF3c.*7649C>A (n.*7649C>A)
c.8674G>T (p.Val2892Leu)
c.8737G>T (p.Val2913Leu)
c.363+9995C>A
6g.63721357C=CA1633381799EYS,PHF3c.*7649C= (n.*7649C=)
c.8674G= (p.Val2892=)
c.8737G= (p.Val2913=)
c.363+9995C=
6g.63721357C>GCA364384232EYS,PHF3c.*7649C>G (n.*7649C>G)
c.8674G>C (p.Val2892Leu)
c.8737G>C (p.Val2913Leu)
c.363+9995C>G
 gnomAD v4
6g.63721357C>TCA364384233EYS,PHF3c.*7649C>T (n.*7649C>T)
c.8674G>A (p.Val2892Ile)
c.8737G>A (p.Val2913Ile)
c.363+9995C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721358delCA2771457324EYS,PHF3c.*7650del (n.*7650del)
c.8673del (p.Val2892Ter)
c.8736del (p.Val2913Ter)
c.363+9996del
6g.63721358T>ACA450862542EYS,PHF3c.*7650T>A (n.*7650T>A)
c.8673A>T (p.Thr2891=)
c.8736A>T (p.Thr2912=)
c.363+9996T>A
6g.63721358T>CCA450862543EYS,PHF3c.*7650T>C (n.*7650T>C)
c.8673A>G (p.Thr2891=)
c.8736A>G (p.Thr2912=)
c.363+9996T>C
6g.63721358T>GCA450862546EYS,PHF3c.*7650T>G (n.*7650T>G)
c.8673A>C (p.Thr2891=)
c.8736A>C (p.Thr2912=)
c.363+9996T>G
 ClinVar
6g.63721358T=CA1633381802EYS,PHF3c.*7650T= (n.*7650T=)
c.8673A= (p.Thr2891=)
c.8736A= (p.Thr2912=)
c.363+9996T=
6g.63721358_63721359insCCATTAGTAAATGCA568118955EYS,PHF3c.*7650_*7651insCCATTAGTAAATG (n.*7650_*7651insCCATTAGTAAATG)
c.8672_8673insCATTTACTAATGG (p.Val2892IlefsTer3)
c.8735_8736insCATTTACTAATGG (p.Val2913IlefsTer3)
c.363+9996_363+9997insCCATTAGTAAATG
 dbSNP gnomAD v2 gnomAD v4
6g.63721359G>ACA364384234EYS,PHF3c.*7651G>A (n.*7651G>A)
c.8672C>T (p.Thr2891Ile)
c.8735C>T (p.Thr2912Ile)
c.363+9997G>A
 dbSNP
6g.63721359G>CCA364384235EYS,PHF3c.*7651G>C (n.*7651G>C)
c.8672C>G (p.Thr2891Arg)
c.8735C>G (p.Thr2912Arg)
c.363+9997G>C
6g.63721359G=CA1633381805EYS,PHF3c.*7651G= (n.*7651G=)
c.8672C= (p.Thr2891=)
c.8735C= (p.Thr2912=)
c.363+9997G=
6g.63721359G>TCA364384236EYS,PHF3c.*7651G>T (n.*7651G>T)
c.8672C>A (p.Thr2891Lys)
c.8735C>A (p.Thr2912Lys)
c.363+9997G>T
6g.63721359_63721363delinsGTACACA1633381804EYS,PHF3c.*7651_*7655delinsGTACA (n.*7651_*7655delinsGTACA)
c.8668_8672delinsTGTAC (p.Cys2890=)
c.8731_8735delinsTGTAC (p.Cys2911=)
c.363+9997_363+10001delinsGTACA
6g.63721360T>ACA364384237EYS,PHF3c.*7652T>A (n.*7652T>A)
c.8671A>T (p.Thr2891Ser)
c.8734A>T (p.Thr2912Ser)
c.363+9998T>A
6g.63721360T>CCA364384238EYS,PHF3c.*7652T>C (n.*7652T>C)
c.8671A>G (p.Thr2891Ala)
c.8734A>G (p.Thr2912Ala)
c.363+9998T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721360T>GCA364384239EYS,PHF3c.*7652T>G (n.*7652T>G)
c.8671A>C (p.Thr2891Pro)
c.8734A>C (p.Thr2912Pro)
c.363+9998T>G
6g.63721360T=CA1633381808EYS,PHF3c.*7652T= (n.*7652T=)
c.8671A= (p.Thr2891=)
c.8734A= (p.Thr2912=)
c.363+9998T=
6g.63721361_63721364delCA568118957EYS,PHF3c.*7653_*7656del (n.*7653_*7656del)
c.8668_8671del (p.Cys2890GlnfsTer2)
c.8731_8734del (p.Cys2911GlnfsTer2)
c.363+9999_363+10002del
 dbSNP gnomAD v2 gnomAD v4
6g.63721361A=CA1633381809EYS,PHF3c.*7653A= (n.*7653A=)
c.8670T= (p.Cys2890=)
c.8733T= (p.Cys2911=)
c.363+9999A=
6g.63721361A>CCA364384240EYS,PHF3c.*7653A>C (n.*7653A>C)
c.8670T>G (p.Cys2890Trp)
c.8733T>G (p.Cys2911Trp)
c.363+9999A>C
 gnomAD v4
6g.63721361A>GCA450862550EYS,PHF3c.*7653A>G (n.*7653A>G)
c.8670T>C (p.Cys2890=)
c.8733T>C (p.Cys2911=)
c.363+9999A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721361A>TCA364384241EYS,PHF3c.*7653A>T (n.*7653A>T)
c.8670T>A (p.Cys2890Ter)
c.8733T>A (p.Cys2911Ter)
c.363+9999A>T
 ClinVar dbSNP
6g.63721362C>ACA364384242EYS,PHF3c.*7654C>A (n.*7654C>A)
c.8669G>T (p.Cys2890Phe)
c.8732G>T (p.Cys2911Phe)
c.363+10000C>A
6g.63721362C>GCA364384243EYS,PHF3c.*7654C>G (n.*7654C>G)
c.8669G>C (p.Cys2890Ser)
c.8732G>C (p.Cys2911Ser)
c.363+10000C>G
6g.63721362C>TCA364384244EYS,PHF3c.*7654C>T (n.*7654C>T)
c.8669G>A (p.Cys2890Tyr)
c.8732G>A (p.Cys2911Tyr)
c.363+10000C>T
6g.63721363A>CCA364384245EYS,PHF3c.*7655A>C (n.*7655A>C)
c.8668T>G (p.Cys2890Gly)
c.8731T>G (p.Cys2911Gly)
c.363+10001A>C
6g.63721363A>GCA364384246EYS,PHF3c.*7655A>G (n.*7655A>G)
c.8668T>C (p.Cys2890Arg)
c.8731T>C (p.Cys2911Arg)
c.363+10001A>G
 gnomAD v4
6g.63721363A>TCA364384247EYS,PHF3c.*7655A>T (n.*7655A>T)
c.8668T>A (p.Cys2890Ser)
c.8731T>A (p.Cys2911Ser)
c.363+10001A>T
6g.63721364T>ACA364384248EYS,PHF3c.*7656T>A (n.*7656T>A)
c.8667A>T (p.Glu2889Asp)
c.8730A>T (p.Glu2910Asp)
c.363+10002T>A
6g.63721364T>CCA450862552EYS,PHF3c.*7656T>C (n.*7656T>C)
c.8667A>G (p.Glu2889=)
c.8730A>G (p.Glu2910=)
c.363+10002T>C
6g.63721364T>GCA364384249EYS,PHF3c.*7656T>G (n.*7656T>G)
c.8667A>C (p.Glu2889Asp)
c.8730A>C (p.Glu2910Asp)
c.363+10002T>G
6g.63721365T>ACA364384250EYS,PHF3c.*7657T>A (n.*7657T>A)
c.8666A>T (p.Glu2889Val)
c.8729A>T (p.Glu2910Val)
c.363+10003T>A
6g.63721365T>CCA364384251EYS,PHF3c.*7657T>C (n.*7657T>C)
c.8666A>G (p.Glu2889Gly)
c.8729A>G (p.Glu2910Gly)
c.363+10003T>C
6g.63721365T>GCA364384252EYS,PHF3c.*7657T>G (n.*7657T>G)
c.8666A>C (p.Glu2889Ala)
c.8729A>C (p.Glu2910Ala)
c.363+10003T>G
6g.63721365_63721366insTGCA2555608356EYS,PHF3c.*7657_*7658insTG (n.*7657_*7658insTG)
c.8665_8666insCA (p.Glu2889AlafsTer5)
c.8728_8729insCA (p.Glu2910AlafsTer5)
c.363+10003_363+10004insTG
6g.63721366C>ACA364384254EYS,PHF3c.*7658C>A (n.*7658C>A)
c.8665G>T (p.Glu2889Ter)
c.8728G>T (p.Glu2910Ter)
c.363+10004C>A
6g.63721366C=CA1633381811EYS,PHF3c.*7658C= (n.*7658C=)
c.8665G= (p.Glu2889=)
c.8728G= (p.Glu2910=)
c.363+10004C=
6g.63721366C>GCA364384255EYS,PHF3c.*7658C>G (n.*7658C>G)
c.8665G>C (p.Glu2889Gln)
c.8728G>C (p.Glu2910Gln)
c.363+10004C>G
 dbSNP gnomAD v2
6g.63721366C>TCA364384253EYS,PHF3c.*7658C>T (n.*7658C>T)
c.8665G>A (p.Glu2889Lys)
c.8728G>A (p.Glu2910Lys)
c.363+10004C>T
 dbSNP gnomAD v4
6g.63721367A=CA1633381813EYS,PHF3c.*7659A= (n.*7659A=)
c.8664T= (p.Gly2888=)
c.8727T= (p.Gly2909=)
c.363+10005A=
6g.63721367A>CCA450862559EYS,PHF3c.*7659A>C (n.*7659A>C)
c.8664T>G (p.Gly2888=)
c.8727T>G (p.Gly2909=)
c.363+10005A>C
 dbSNP
6g.63721367A>GCA450862561EYS,PHF3c.*7659A>G (n.*7659A>G)
c.8664T>C (p.Gly2888=)
c.8727T>C (p.Gly2909=)
c.363+10005A>G
6g.63721367A>TCA450862565EYS,PHF3c.*7659A>T (n.*7659A>T)
c.8664T>A (p.Gly2888=)
c.8727T>A (p.Gly2909=)
c.363+10005A>T
6g.63721368C>ACA364384256EYS,PHF3c.*7660C>A (n.*7660C>A)
c.8663G>T (p.Gly2888Val)
c.8726G>T (p.Gly2909Val)
c.363+10006C>A
6g.63721368C=CA1633381815EYS,PHF3c.*7660C= (n.*7660C=)
c.8663G= (p.Gly2888=)
c.8726G= (p.Gly2909=)
c.363+10006C=
6g.63721368C>GCA3876701EYS,PHF3c.*7660C>G (n.*7660C>G)
c.8663G>C (p.Gly2888Ala)
c.8726G>C (p.Gly2909Ala)
c.363+10006C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.63721368C>TCA140236833EYS,PHF3c.*7660C>T (n.*7660C>T)
c.8663G>A (p.Gly2888Asp)
c.8726G>A (p.Gly2909Asp)
c.363+10006C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.63721370_63721372delCA2679279892EYS,PHF3c.*7662_*7664del (n.*7662_*7664del)
c.8661_8663del (p.Gly2888del)
c.8724_8726del (p.Gly2909del)
c.363+10008_363+10010del
 gnomAD v4
6g.63721369C>ACA364384257EYS,PHF3c.*7661C>A (n.*7661C>A)
c.8662G>T (p.Gly2888Cys)
c.8725G>T (p.Gly2909Cys)
c.363+10007C>A
6g.63721369C>GCA364384258EYS,PHF3c.*7661C>G (n.*7661C>G)
c.8662G>C (p.Gly2888Arg)
c.8725G>C (p.Gly2909Arg)
c.363+10007C>G
6g.63721369C>TCA364384259EYS,PHF3c.*7661C>T (n.*7661C>T)
c.8662G>A (p.Gly2888Ser)
c.8725G>A (p.Gly2909Ser)
c.363+10007C>T
6g.63721370T>ACA450862570EYS,PHF3c.*7662T>A (n.*7662T>A)
c.8661A>T (p.Gly2887=)
c.8724A>T (p.Gly2908=)
c.363+10008T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721370T>CCA450862571EYS,PHF3c.*7662T>C (n.*7662T>C)
c.8661A>G (p.Gly2887=)
c.8724A>G (p.Gly2908=)
c.363+10008T>C
6g.63721370T>GCA450862568EYS,PHF3c.*7662T>G (n.*7662T>G)
c.8661A>C (p.Gly2887=)
c.8724A>C (p.Gly2908=)
c.363+10008T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721370T=CA1633381817EYS,PHF3c.*7662T= (n.*7662T=)
c.8661A= (p.Gly2887=)
c.8724A= (p.Gly2908=)
c.363+10008T=
6g.63721371C>ACA364384262EYS,PHF3c.*7663C>A (n.*7663C>A)
c.8660G>T (p.Gly2887Val)
c.8723G>T (p.Gly2908Val)
c.363+10009C>A
6g.63721371C>GCA364384260EYS,PHF3c.*7663C>G (n.*7663C>G)
c.8660G>C (p.Gly2887Ala)
c.8723G>C (p.Gly2908Ala)
c.363+10009C>G
6g.63721371C>TCA364384261EYS,PHF3c.*7663C>T (n.*7663C>T)
c.8660G>A (p.Gly2887Glu)
c.8723G>A (p.Gly2908Glu)
c.363+10009C>T
6g.63721371_63721372delCA2515001747EYS,PHF3c.*7663_*7664del (n.*7663_*7664del)
c.8659_8660del (p.Gly2887ArgfsTer2)
c.8722_8723del (p.Gly2908ArgfsTer2)
c.363+10009_363+10010del
6g.63721372C>ACA364384263EYS,PHF3c.*7664C>A (n.*7664C>A)
c.8659G>T (p.Gly2887Ter)
c.8722G>T (p.Gly2908Ter)
c.363+10010C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721372C=CA1633381819EYS,PHF3c.*7664C= (n.*7664C=)
c.8659G= (p.Gly2887=)
c.8722G= (p.Gly2908=)
c.363+10010C=
6g.63721372C>GCA364384264EYS,PHF3c.*7664C>G (n.*7664C>G)
c.8659G>C (p.Gly2887Arg)
c.8722G>C (p.Gly2908Arg)
c.363+10010C>G
6g.63721372C>TCA364384265EYS,PHF3c.*7664C>T (n.*7664C>T)
c.8659G>A (p.Gly2887Arg)
c.8722G>A (p.Gly2908Arg)
c.363+10010C>T
 gnomAD v4
6g.63721373A>CCA364384266EYS,PHF3c.*7665A>C (n.*7665A>C)
c.8658T>G (p.Asn2886Lys)
c.8721T>G (p.Asn2907Lys)
c.363+10011A>C
6g.63721373A>GCA450862574EYS,PHF3c.*7665A>G (n.*7665A>G)
c.8658T>C (p.Asn2886=)
c.8721T>C (p.Asn2907=)
c.363+10011A>G
 ClinVar dbSNP
6g.63721373A>TCA364384267EYS,PHF3c.*7665A>T (n.*7665A>T)
c.8658T>A (p.Asn2886Lys)
c.8721T>A (p.Asn2907Lys)
c.363+10011A>T
6g.63721374T>ACA364384268EYS,PHF3c.*7666T>A (n.*7666T>A)
c.8657A>T (p.Asn2886Ile)
c.8720A>T (p.Asn2907Ile)
c.363+10012T>A
6g.63721374T>CCA364384270EYS,PHF3c.*7666T>C (n.*7666T>C)
c.8657A>G (p.Asn2886Ser)
c.8720A>G (p.Asn2907Ser)
c.363+10012T>C
6g.63721374T>GCA364384269EYS,PHF3c.*7666T>G (n.*7666T>G)
c.8657A>C (p.Asn2886Thr)
c.8720A>C (p.Asn2907Thr)
c.363+10012T>G
6g.63721376delCA140236834EYS,PHF3c.*7668del (n.*7668del)
c.8657del (p.Asn2886MetfsTer7)
c.8720del (p.Asn2907MetfsTer7)
c.363+10014del
6g.63721375T>ACA364384271EYS,PHF3c.*7667T>A (n.*7667T>A)
c.8656A>T (p.Asn2886Tyr)
c.8719A>T (p.Asn2907Tyr)
c.363+10013T>A
6g.63721375T>CCA364384272EYS,PHF3c.*7667T>C (n.*7667T>C)
c.8656A>G (p.Asn2886Asp)
c.8719A>G (p.Asn2907Asp)
c.363+10013T>C
6g.63721375T>GCA364384273EYS,PHF3c.*7667T>G (n.*7667T>G)
c.8656A>C (p.Asn2886His)
c.8719A>C (p.Asn2907His)
c.363+10013T>G
6g.63721375_63721383delinsTTCTGCATGCA1633381821EYS,PHF3c.*7667_*7675delinsTTCTGCATG (n.*7667_*7675delinsTTCTGCATG)
c.8648_8656delinsCATGCAGAA (p.Thr2883=)
c.8711_8719delinsCATGCAGAA (p.Thr2904=)
c.363+10013_363+10021delinsTTCTGCATG
6g.63721376_63721384delCA913111494EYS,PHF3c.*7668_*7676del (n.*7668_*7676del)
c.8648_8656del (p.Thr2883_Arg2885del)
c.8711_8719del (p.Thr2904_Arg2906del)
c.363+10014_363+10022del
6g.63721376T>ACA364384274EYS,PHF3c.*7668T>A (n.*7668T>A)
c.8655A>T (p.Arg2885Ser)
c.8718A>T (p.Arg2906Ser)
c.363+10014T>A
6g.63721376T>CCA450862576EYS,PHF3c.*7668T>C (n.*7668T>C)
c.8655A>G (p.Arg2885=)
c.8718A>G (p.Arg2906=)
c.363+10014T>C
6g.63721376T>GCA364384275EYS,PHF3c.*7668T>G (n.*7668T>G)
c.8655A>C (p.Arg2885Ser)
c.8718A>C (p.Arg2906Ser)
c.363+10014T>G
6g.63721377_63721384dupCA1633381824EYS,PHF3c.*7669_*7676dup (n.*7669_*7676dup)
c.8648_8655dup (p.Asn2886HisfsTer10)
c.8711_8718dup (p.Asn2907HisfsTer10)
c.363+10015_363+10022dup
 dbSNP
6g.63721377_63721384delCA3876702EYS,PHF3c.*7669_*7676del (n.*7669_*7676del)
c.8648_8655del (p.Thr2883LysfsTer4)
c.8711_8718del (p.Thr2904LysfsTer4)
c.363+10015_363+10022del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.63721377C>ACA364384276EYS,PHF3c.*7669C>A (n.*7669C>A)
c.8654G>T (p.Arg2885Ile)
c.8717G>T (p.Arg2906Ile)
c.363+10015C>A
6g.63721377C>GCA364384277EYS,PHF3c.*7669C>G (n.*7669C>G)
c.8654G>C (p.Arg2885Thr)
c.8717G>C (p.Arg2906Thr)
c.363+10015C>G
6g.63721377C>TCA364384278EYS,PHF3c.*7669C>T (n.*7669C>T)
c.8654G>A (p.Arg2885Lys)
c.8717G>A (p.Arg2906Lys)
c.363+10015C>T
6g.63721377_63721381delCA1089784815EYS,PHF3c.*7669_*7673del (n.*7669_*7673del)
c.8650_8654del (p.Cys2884LysfsTer4)
c.8713_8717del (p.Cys2905LysfsTer4)
c.363+10015_363+10019del
6g.63721378T>ACA364384279EYS,PHF3c.*7670T>A (n.*7670T>A)
c.8653A>T (p.Arg2885Ter)
c.8716A>T (p.Arg2906Ter)
c.363+10016T>A
6g.63721378T>CCA364384280EYS,PHF3c.*7670T>C (n.*7670T>C)
c.8653A>G (p.Arg2885Gly)
c.8716A>G (p.Arg2906Gly)
c.363+10016T>C
6g.63721378T>GCA450862577EYS,PHF3c.*7670T>G (n.*7670T>G)
c.8653A>C (p.Arg2885=)
c.8716A>C (p.Arg2906=)
c.363+10016T>G
6g.63721379G>ACA450862580EYS,PHF3c.*7671G>A (n.*7671G>A)
c.8652C>T (p.Cys2884=)
c.8715C>T (p.Cys2905=)
c.363+10017G>A
6g.63721379G>CCA364384281EYS,PHF3c.*7671G>C (n.*7671G>C)
c.8652C>G (p.Cys2884Trp)
c.8715C>G (p.Cys2905Trp)
c.363+10017G>C
6g.63721379G=CA1633381827EYS,PHF3c.*7671G= (n.*7671G=)
c.8652C= (p.Cys2884=)
c.8715C= (p.Cys2905=)
c.363+10017G=
6g.63721379G>TCA140236835EYS,PHF3c.*7671G>T (n.*7671G>T)
c.8652C>A (p.Cys2884Ter)
c.8715C>A (p.Cys2905Ter)
c.363+10017G>T
 dbSNP gnomAD v3 gnomAD v4
6g.63721380C>ACA364384283EYS,PHF3c.*7672C>A (n.*7672C>A)
c.8651G>T (p.Cys2884Phe)
c.8714G>T (p.Cys2905Phe)
c.363+10018C>A
6g.63721380C>GCA364384284EYS,PHF3c.*7672C>G (n.*7672C>G)
c.8651G>C (p.Cys2884Ser)
c.8714G>C (p.Cys2905Ser)
c.363+10018C>G
6g.63721380C>TCA364384282EYS,PHF3c.*7672C>T (n.*7672C>T)
c.8651G>A (p.Cys2884Tyr)
c.8714G>A (p.Cys2905Tyr)
c.363+10018C>T
6g.63721381A=CA1633381831EYS,PHF3c.*7673A= (n.*7673A=)
c.8650T= (p.Cys2884=)
c.8713T= (p.Cys2905=)
c.363+10019A=
6g.63721381A>CCA364384286EYS,PHF3c.*7673A>C (n.*7673A>C)
c.8650T>G (p.Cys2884Gly)
c.8713T>G (p.Cys2905Gly)
c.363+10019A>C
6g.63721381A>GCA364384285EYS,PHF3c.*7673A>G (n.*7673A>G)
c.8650T>C (p.Cys2884Arg)
c.8713T>C (p.Cys2905Arg)
c.363+10019A>G
 dbSNP gnomAD v4
6g.63721381A>TCA364384287EYS,PHF3c.*7673A>T (n.*7673A>T)
c.8650T>A (p.Cys2884Ser)
c.8713T>A (p.Cys2905Ser)
c.363+10019A>T
 ClinVar
6g.63721381_63721383delinsATGCA1633381829EYS,PHF3c.*7673_*7675delinsATG (n.*7673_*7675delinsATG)
c.8648_8650delinsCAT (p.Thr2883=)
c.8711_8713delinsCAT (p.Thr2904=)
c.363+10019_363+10021delinsATG
6g.63721382T>ACA450862587EYS,PHF3c.*7674T>A (n.*7674T>A)
c.8649A>T (p.Thr2883=)
c.8712A>T (p.Thr2904=)
c.363+10020T>A
 gnomAD v4
6g.63721382T>CCA450862590EYS,PHF3c.*7674T>C (n.*7674T>C)
c.8649A>G (p.Thr2883=)
c.8712A>G (p.Thr2904=)
c.363+10020T>C
6g.63721382T>GCA450862588EYS,PHF3c.*7674T>G (n.*7674T>G)
c.8649A>C (p.Thr2883=)
c.8712A>C (p.Thr2904=)
c.363+10020T>G
6g.63721385_63721386delCA1633381832EYS,PHF3c.*7677_*7678del (n.*7677_*7678del)
c.8648_8649del (p.Thr2883MetfsTer6)
c.8711_8712del (p.Thr2904MetfsTer6)
c.363+10023_363+10024del
 ClinVar dbSNP
6g.63721385_63721389delCA2540738474EYS,PHF3c.*7677_*7681del (n.*7677_*7681del)
c.8645_8649del (p.Asn2882MetfsTer6)
c.8708_8712del (p.Asn2903MetfsTer6)
c.363+10023_363+10027del
6g.63721383G>ACA364384288EYS,PHF3c.*7675G>A (n.*7675G>A)
c.8648C>T (p.Thr2883Ile)
c.8711C>T (p.Thr2904Ile)
c.363+10021G>A
6g.63721383G>CCA364384289EYS,PHF3c.*7675G>C (n.*7675G>C)
c.8648C>G (p.Thr2883Arg)
c.8711C>G (p.Thr2904Arg)
c.363+10021G>C
6g.63721383G>TCA364384290EYS,PHF3c.*7675G>T (n.*7675G>T)
c.8648C>A (p.Thr2883Lys)
c.8711C>A (p.Thr2904Lys)
c.363+10021G>T
 gnomAD v4
6g.63721384T>ACA364384291EYS,PHF3c.*7676T>A (n.*7676T>A)
c.8647A>T (p.Thr2883Ser)
c.8710A>T (p.Thr2904Ser)
c.363+10022T>A
6g.63721384T>CCA364384292EYS,PHF3c.*7676T>C (n.*7676T>C)
c.8647A>G (p.Thr2883Ala)
c.8710A>G (p.Thr2904Ala)
c.363+10022T>C
6g.63721384T>GCA364384293EYS,PHF3c.*7676T>G (n.*7676T>G)
c.8647A>C (p.Thr2883Pro)
c.8710A>C (p.Thr2904Pro)
c.363+10022T>G
6g.63721385G>ACA450862593EYS,PHF3c.*7677G>A (n.*7677G>A)
c.8646C>T (p.Asn2882=)
c.8709C>T (p.Asn2903=)
c.363+10023G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721385G>CCA364384294EYS,PHF3c.*7677G>C (n.*7677G>C)
c.8646C>G (p.Asn2882Lys)
c.8709C>G (p.Asn2903Lys)
c.363+10023G>C
6g.63721385G=CA1633381834EYS,PHF3c.*7677G= (n.*7677G=)
c.8646C= (p.Asn2882=)
c.8709C= (p.Asn2903=)
c.363+10023G=
6g.63721385G>TCA364384295EYS,PHF3c.*7677G>T (n.*7677G>T)
c.8646C>A (p.Asn2882Lys)
c.8709C>A (p.Asn2903Lys)
c.363+10023G>T
6g.63721386T>ACA364384296EYS,PHF3c.*7678T>A (n.*7678T>A)
c.8645A>T (p.Asn2882Ile)
c.8708A>T (p.Asn2903Ile)
c.363+10024T>A
6g.63721386T>CCA364384297EYS,PHF3c.*7678T>C (n.*7678T>C)
c.8645A>G (p.Asn2882Ser)
c.8708A>G (p.Asn2903Ser)
c.363+10024T>C
6g.63721386T>GCA364384298EYS,PHF3c.*7678T>G (n.*7678T>G)
c.8645A>C (p.Asn2882Thr)
c.8708A>C (p.Asn2903Thr)
c.363+10024T>G
6g.63721386_63721387insAACA1089784829EYS,PHF3c.*7678_*7679insAA (n.*7678_*7679insAA)
c.8644_8645insTT (p.Asn2882IlefsTer12)
c.8707_8708insTT (p.Asn2903IlefsTer12)
c.363+10024_363+10025insAA
6g.63721386_63721387insCACACCA2568703855EYS,PHF3c.*7678_*7679insCACAC (n.*7678_*7679insCACAC)
c.8644_8645insGTGTG (p.Asn2882SerfsTer13)
c.8707_8708insGTGTG (p.Asn2903SerfsTer13)
c.363+10024_363+10025insCACAC
6g.63721387T>ACA364384301EYS,PHF3c.*7679T>A (n.*7679T>A)
c.8644A>T (p.Asn2882Tyr)
c.8707A>T (p.Asn2903Tyr)
c.363+10025T>A
6g.63721387T>CCA364384299EYS,PHF3c.*7679T>C (n.*7679T>C)
c.8644A>G (p.Asn2882Asp)
c.8707A>G (p.Asn2903Asp)
c.363+10025T>C
6g.63721387T>GCA364384300EYS,PHF3c.*7679T>G (n.*7679T>G)
c.8644A>C (p.Asn2882His)
c.8707A>C (p.Asn2903His)
c.363+10025T>G
6g.63721388G>ACA450862599EYS,PHF3c.*7680G>A (n.*7680G>A)
c.8643C>T (p.Tyr2881=)
c.8706C>T (p.Tyr2902=)
c.363+10026G>A
 gnomAD v4
6g.63721388G>CCA364384302EYS,PHF3c.*7680G>C (n.*7680G>C)
c.8643C>G (p.Tyr2881Ter)
c.8706C>G (p.Tyr2902Ter)
c.363+10026G>C
 ClinVar
6g.63721388G>TCA364384303EYS,PHF3c.*7680G>T (n.*7680G>T)
c.8643C>A (p.Tyr2881Ter)
c.8706C>A (p.Tyr2902Ter)
c.363+10026G>T
6g.63721388_63721389insACA1089784836EYS,PHF3c.*7680_*7681insA (n.*7680_*7681insA)
c.8642_8643insT (p.Asn2882GlnfsTer8)
c.8705_8706insT (p.Asn2903GlnfsTer8)
c.363+10026_363+10027insA
6g.63721389T>ACA364384304EYS,PHF3c.*7681T>A (n.*7681T>A)
c.8642A>T (p.Tyr2881Phe)
c.8705A>T (p.Tyr2902Phe)
c.363+10027T>A
6g.63721389T>CCA140236836EYS,PHF3c.*7681T>C (n.*7681T>C)
c.8642A>G (p.Tyr2881Cys)
c.8705A>G (p.Tyr2902Cys)
c.363+10027T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721389T>GCA364384305EYS,PHF3c.*7681T>G (n.*7681T>G)
c.8642A>C (p.Tyr2881Ser)
c.8705A>C (p.Tyr2902Ser)
c.363+10027T>G
 gnomAD v4
6g.63721389T=CA1633381836EYS,PHF3c.*7681T= (n.*7681T=)
c.8642A= (p.Tyr2881=)
c.8705A= (p.Tyr2902=)
c.363+10027T=
6g.63721390A>CCA364384306EYS,PHF3c.*7682A>C (n.*7682A>C)
c.8641T>G (p.Tyr2881Asp)
c.8704T>G (p.Tyr2902Asp)
c.363+10028A>C
6g.63721390A>GCA364384307EYS,PHF3c.*7682A>G (n.*7682A>G)
c.8641T>C (p.Tyr2881His)
c.8704T>C (p.Tyr2902His)
c.363+10028A>G
 ClinVar gnomAD v4
6g.63721390A>TCA364384308EYS,PHF3c.*7682A>T (n.*7682A>T)
c.8641T>A (p.Tyr2881Asn)
c.8704T>A (p.Tyr2902Asn)
c.363+10028A>T
6g.63721391C>ACA450862602EYS,PHF3c.*7683C>A (n.*7683C>A)
c.8640G>T (p.Gly2880=)
c.8703G>T (p.Gly2901=)
c.363+10029C>A
6g.63721391C>GCA450862604EYS,PHF3c.*7683C>G (n.*7683C>G)
c.8640G>C (p.Gly2880=)
c.8703G>C (p.Gly2901=)
c.363+10029C>G
6g.63721391C>TCA450862606EYS,PHF3c.*7683C>T (n.*7683C>T)
c.8640G>A (p.Gly2880=)
c.8703G>A (p.Gly2901=)
c.363+10029C>T
 ClinVar
6g.63721391_63721392insGGCGACA1089784853EYS,PHF3c.*7683_*7684insGGCGA (n.*7683_*7684insGGCGA)
c.8639_8640insTCGCC (p.Tyr2881ArgfsTer14)
c.8702_8703insTCGCC (p.Tyr2902ArgfsTer14)
c.363+10029_363+10030insGGCGA
6g.63721392C>ACA364384309EYS,PHF3c.*7684C>A (n.*7684C>A)
c.8639G>T (p.Gly2880Val)
c.8702G>T (p.Gly2901Val)
c.363+10030C>A
6g.63721392C>GCA364384310EYS,PHF3c.*7684C>G (n.*7684C>G)
c.8639G>C (p.Gly2880Ala)
c.8702G>C (p.Gly2901Ala)
c.363+10030C>G
6g.63721392C>TCA364384311EYS,PHF3c.*7684C>T (n.*7684C>T)
c.8639G>A (p.Gly2880Glu)
c.8702G>A (p.Gly2901Glu)
c.363+10030C>T
6g.63721393C>ACA364384313EYS,PHF3c.*7685C>A (n.*7685C>A)
c.8638G>T (p.Gly2880Trp)
c.8701G>T (p.Gly2901Trp)
c.363+10031C>A
6g.63721393C>GCA364384314EYS,PHF3c.*7685C>G (n.*7685C>G)
c.8638G>C (p.Gly2880Arg)
c.8701G>C (p.Gly2901Arg)
c.363+10031C>G
6g.63721393C>TCA364384312EYS,PHF3c.*7685C>T (n.*7685C>T)
c.8638G>A (p.Gly2880Arg)
c.8701G>A (p.Gly2901Arg)
c.363+10031C>T
6g.63721394A>CCA364384315EYS,PHF3c.*7686A>C (n.*7686A>C)
c.8637T>G (p.Cys2879Trp)
c.8700T>G (p.Cys2900Trp)
c.363+10032A>C
6g.63721394A>GCA450862609EYS,PHF3c.*7686A>G (n.*7686A>G)
c.8637T>C (p.Cys2879=)
c.8700T>C (p.Cys2900=)
c.363+10032A>G
6g.63721394A>TCA364384316EYS,PHF3c.*7686A>T (n.*7686A>T)
c.8637T>A (p.Cys2879Ter)
c.8700T>A (p.Cys2900Ter)
c.363+10032A>T
6g.63721395C>ACA364384317EYS,PHF3c.*7687C>A (n.*7687C>A)
c.8636G>T (p.Cys2879Phe)
c.8699G>T (p.Cys2900Phe)
c.363+10033C>A
6g.63721395C=CA1633381839EYS,PHF3c.*7687C= (n.*7687C=)
c.8636G= (p.Cys2879=)
c.8699G= (p.Cys2900=)
c.363+10033C=
6g.63721395C>GCA364384318EYS,PHF3c.*7687C>G (n.*7687C>G)
c.8636G>C (p.Cys2879Ser)
c.8699G>C (p.Cys2900Ser)
c.363+10033C>G
6g.63721395C>TCA364384319EYS,PHF3c.*7687C>T (n.*7687C>T)
c.8636G>A (p.Cys2879Tyr)
c.8699G>A (p.Cys2900Tyr)
c.363+10033C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721395_63721396insCGCA1089784860EYS,PHF3c.*7687_*7688insCG (n.*7687_*7688insCG)
c.8635_8636insCG (p.Cys2879SerfsTer15)
c.8698_8699insCG (p.Cys2900SerfsTer15)
c.363+10033_363+10034insCG
6g.63721396A>CCA364384320EYS,PHF3c.*7688A>C (n.*7688A>C)
c.8635T>G (p.Cys2879Gly)
c.8698T>G (p.Cys2900Gly)
c.363+10034A>C
6g.63721396A>GCA364384321EYS,PHF3c.*7688A>G (n.*7688A>G)
c.8635T>C (p.Cys2879Arg)
c.8698T>C (p.Cys2900Arg)
c.363+10034A>G
6g.63721396A>TCA364384322EYS,PHF3c.*7688A>T (n.*7688A>T)
c.8635T>A (p.Cys2879Ser)
c.8698T>A (p.Cys2900Ser)
c.363+10034A>T
6g.63721397G>ACA140236837EYS,PHF3c.*7689G>A (n.*7689G>A)
c.8634C>T (p.Ala2878=)
c.8697C>T (p.Ala2899=)
c.363+10035G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.63721397G>CCA450862613EYS,PHF3c.*7689G>C (n.*7689G>C)
c.8634C>G (p.Ala2878=)
c.8697C>G (p.Ala2899=)
c.363+10035G>C
6g.63721397G=CA1633381841EYS,PHF3c.*7689G= (n.*7689G=)
c.8634C= (p.Ala2878=)
c.8697C= (p.Ala2899=)
c.363+10035G=
6g.63721397G>TCA450862616EYS,PHF3c.*7689G>T (n.*7689G>T)
c.8634C>A (p.Ala2878=)
c.8697C>A (p.Ala2899=)
c.363+10035G>T
6g.63721398G>ACA364384323EYS,PHF3c.*7690G>A (n.*7690G>A)
c.8633C>T (p.Ala2878Val)
c.8696C>T (p.Ala2899Val)
c.363+10036G>A
 dbSNP
6g.63721398G>CCA364384324EYS,PHF3c.*7690G>C (n.*7690G>C)
c.8633C>G (p.Ala2878Gly)
c.8696C>G (p.Ala2899Gly)
c.363+10036G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.63721398G=CA1633381844EYS,PHF3c.*7690G= (n.*7690G=)
c.8633C= (p.Ala2878=)
c.8696C= (p.Ala2899=)
c.363+10036G=
6g.63721398G>TCA364384325EYS,PHF3c.*7690G>T (n.*7690G>T)
c.8633C>A (p.Ala2878Asp)
c.8696C>A (p.Ala2899Asp)
c.363+10036G>T
6g.63721398_63721402delCA2739273153EYS,PHF3c.*7690_*7694del (n.*7690_*7694del)
c.8629_8633del (p.Thr2877LeufsTer11)
c.8692_8696del (p.Thr2898LeufsTer11)
c.363+10036_363+10040del
 ClinVar
6g.63721398_63721405delCA1089784867EYS,PHF3c.*7690_*7697del (n.*7690_*7697del)
c.8626_8633del (p.Gly2876LeufsTer11)
c.8689_8696del (p.Gly2897LeufsTer11)
c.363+10036_363+10043del
6g.63721399C>ACA364384327EYS,PHF3c.*7691C>A (n.*7691C>A)
c.8632G>T (p.Ala2878Ser)
c.8695G>T (p.Ala2899Ser)
c.363+10037C>A
6g.63721399C>GCA364384328EYS,PHF3c.*7691C>G (n.*7691C>G)
c.8632G>C (p.Ala2878Pro)
c.8695G>C (p.Ala2899Pro)
c.363+10037C>G
6g.63721399C>TCA364384326EYS,PHF3c.*7691C>T (n.*7691C>T)
c.8632G>A (p.Ala2878Thr)
c.8695G>A (p.Ala2899Thr)
c.363+10037C>T
6g.63721400_63721403dupCA2679279893EYS,PHF3c.*7692_*7695dup (n.*7692_*7695dup)
c.8629_8632dup (p.Ala2878AspfsTer13)
c.8692_8695dup (p.Ala2899AspfsTer13)
c.363+10038_363+10041dup
 gnomAD v4
6g.63721400T>ACA450862619EYS,PHF3c.*7692T>A (n.*7692T>A)
c.8631A>T (p.Thr2877=)
c.8694A>T (p.Thr2898=)
c.363+10038T>A
6g.63721400T>CCA450862621EYS,PHF3c.*7692T>C (n.*7692T>C)
c.8631A>G (p.Thr2877=)
c.8694A>G (p.Thr2898=)
c.363+10038T>C
 gnomAD v4
6g.63721400T>GCA450862623EYS,PHF3c.*7692T>G (n.*7692T>G)
c.8631A>C (p.Thr2877=)
c.8694A>C (p.Thr2898=)
c.363+10038T>G
6g.63721401G>ACA364384329EYS,PHF3c.*7693G>A (n.*7693G>A)
c.8630C>T (p.Thr2877Ile)
c.8693C>T (p.Thr2898Ile)
c.363+10039G>A
 dbSNP gnomAD v3 gnomAD v4
6g.63721401G>CCA364384330EYS,PHF3c.*7693G>C (n.*7693G>C)
c.8630C>G (p.Thr2877Arg)
c.8693C>G (p.Thr2898Arg)
c.363+10039G>C
6g.63721401G=CA1633381846EYS,PHF3c.*7693G= (n.*7693G=)
c.8630C= (p.Thr2877=)
c.8693C= (p.Thr2898=)
c.363+10039G=
6g.63721401G>TCA364384331EYS,PHF3c.*7693G>T (n.*7693G>T)
c.8630C>A (p.Thr2877Lys)
c.8693C>A (p.Thr2898Lys)
c.363+10039G>T
6g.63721402T>ACA364384332EYS,PHF3c.*7694T>A (n.*7694T>A)
c.8629A>T (p.Thr2877Ser)
c.8692A>T (p.Thr2898Ser)
c.363+10040T>A
6g.63721402T>CCA364384333EYS,PHF3c.*7694T>C (n.*7694T>C)
c.8629A>G (p.Thr2877Ala)
c.8692A>G (p.Thr2898Ala)
c.363+10040T>C
6g.63721402T>GCA364384334EYS,PHF3c.*7694T>G (n.*7694T>G)
c.8629A>C (p.Thr2877Pro)
c.8692A>C (p.Thr2898Pro)
c.363+10040T>G
6g.63721403C>ACA450862628EYS,PHF3c.*7695C>A (n.*7695C>A)
c.8628G>T (p.Gly2876=)
c.8691G>T (p.Gly2897=)
c.363+10041C>A
6g.63721403C>GCA450862631EYS,PHF3c.*7695C>G (n.*7695C>G)
c.8628G>C (p.Gly2876=)
c.8691G>C (p.Gly2897=)
c.363+10041C>G
6g.63721403C>TCA450862630EYS,PHF3c.*7695C>T (n.*7695C>T)
c.8628G>A (p.Gly2876=)
c.8691G>A (p.Gly2897=)
c.363+10041C>T
 gnomAD v4
6g.63721405dupCA2573141296EYS,PHF3c.*7697dup (n.*7697dup)
c.8628dup (p.Thr2877AspfsTer13)
c.8691dup (p.Thr2898AspfsTer13)
c.363+10043dup
 ClinVar dbSNP
6g.63721404C>ACA140236838EYS,PHF3c.*7696C>A (n.*7696C>A)
c.8627G>T (p.Gly2876Val)
c.8690G>T (p.Gly2897Val)
c.363+10042C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.63721404C=CA1633381849EYS,PHF3c.*7696C= (n.*7696C=)
c.8627G= (p.Gly2876=)
c.8690G= (p.Gly2897=)
c.363+10042C=
6g.63721404C>GCA364384336EYS,PHF3c.*7696C>G (n.*7696C>G)
c.8627G>C (p.Gly2876Ala)
c.8690G>C (p.Gly2897Ala)
c.363+10042C>G
 gnomAD v4
6g.63721404C>TCA364384335EYS,PHF3c.*7696C>T (n.*7696C>T)
c.8627G>A (p.Gly2876Glu)
c.8690G>A (p.Gly2897Glu)
c.363+10042C>T
6g.63721405C>ACA364384337EYS,PHF3c.*7697C>A (n.*7697C>A)
c.8626G>T (p.Gly2876Trp)
c.8689G>T (p.Gly2897Trp)
c.363+10043C>A
6g.63721405C=CA1633381851EYS,PHF3c.*7697C= (n.*7697C=)
c.8626G= (p.Gly2876=)
c.8689G= (p.Gly2897=)
c.363+10043C=
6g.63721405C>GCA364384338EYS,PHF3c.*7697C>G (n.*7697C>G)
c.8626G>C (p.Gly2876Arg)
c.8689G>C (p.Gly2897Arg)
c.363+10043C>G
 gnomAD v4
6g.63721405C>TCA364384339EYS,PHF3c.*7697C>T (n.*7697C>T)
c.8626G>A (p.Gly2876Arg)
c.8689G>A (p.Gly2897Arg)
c.363+10043C>T
 ClinVar dbSNP gnomAD v4
6g.63721406A>CCA364384340EYS,PHF3c.*7698A>C (n.*7698A>C)
c.8625T>G (p.Asp2875Glu)
c.8688T>G (p.Asp2896Glu)
c.363+10044A>C
6g.63721406A>GCA450862635EYS,PHF3c.*7698A>G (n.*7698A>G)
c.8625T>C (p.Asp2875=)
c.8688T>C (p.Asp2896=)
c.363+10044A>G
 ClinVar dbSNP
6g.63721406A>TCA364384341EYS,PHF3c.*7698A>T (n.*7698A>T)
c.8625T>A (p.Asp2875Glu)
c.8688T>A (p.Asp2896Glu)
c.363+10044A>T
6g.63721407T>ACA364384344EYS,PHF3c.*7699T>A (n.*7699T>A)
c.8624A>T (p.Asp2875Val)
c.8687A>T (p.Asp2896Val)
c.363+10045T>A
6g.63721407T>CCA364384343EYS,PHF3c.*7699T>C (n.*7699T>C)
c.8624A>G (p.Asp2875Gly)
c.8687A>G (p.Asp2896Gly)
c.363+10045T>C
6g.63721407T>GCA364384342EYS,PHF3c.*7699T>G (n.*7699T>G)
c.8624A>C (p.Asp2875Ala)
c.8687A>C (p.Asp2896Ala)
c.363+10045T>G
6g.63721408C>ACA364384346EYS,PHF3c.*7700C>A (n.*7700C>A)
c.8623G>T (p.Asp2875Tyr)
c.8686G>T (p.Asp2896Tyr)
c.363+10046C>A
6g.63721408C>GCA364384345EYS,PHF3c.*7700C>G (n.*7700C>G)
c.8623G>C (p.Asp2875His)
c.8686G>C (p.Asp2896His)
c.363+10046C>G
 ClinVar
6g.63721408C>TCA364384347EYS,PHF3c.*7700C>T (n.*7700C>T)
c.8623G>A (p.Asp2875Asn)
c.8686G>A (p.Asp2896Asn)
c.363+10046C>T
6g.63721408_63721409insTACCA1089784890EYS,PHF3c.*7700_*7701insTAC (n.*7700_*7701insTAC)
c.8623_8624insTAG (p.Cys2874_Asp2875insVal)
c.8686_8687insTAG (p.Cys2895_Asp2896insVal)
c.363+10046_363+10047insTAC
6g.63721409A>CCA364384348EYS,PHF3c.*7701A>C (n.*7701A>C)
c.8622T>G (p.Cys2874Trp)
c.8685T>G (p.Cys2895Trp)
c.363+10047A>C
 gnomAD v4
6g.63721409A>GCA450862638EYS,PHF3c.*7701A>G (n.*7701A>G)
c.8622T>C (p.Cys2874=)
c.8685T>C (p.Cys2895=)
c.363+10047A>G
6g.63721409A>TCA364384349EYS,PHF3c.*7701A>T (n.*7701A>T)
c.8622T>A (p.Cys2874Ter)
c.8685T>A (p.Cys2895Ter)
c.363+10047A>T
6g.63721410C>ACA364384350EYS,PHF3c.*7702C>A (n.*7702C>A)
c.8621G>T (p.Cys2874Phe)
c.8684G>T (p.Cys2895Phe)
c.363+10048C>A
6g.63721410C=CA1633381853EYS,PHF3c.*7702C= (n.*7702C=)
c.8621G= (p.Cys2874=)
c.8684G= (p.Cys2895=)
c.363+10048C=
6g.63721410C>GCA364384351EYS,PHF3c.*7702C>G (n.*7702C>G)
c.8621G>C (p.Cys2874Ser)
c.8684G>C (p.Cys2895Ser)
c.363+10048C>G
6g.63721410C>TCA364384352EYS,PHF3c.*7702C>T (n.*7702C>T)
c.8621G>A (p.Cys2874Tyr)
c.8684G>A (p.Cys2895Tyr)
c.363+10048C>T
 dbSNP gnomAD v3 gnomAD v4
6g.63721411A=CA1633381855EYS,PHF3c.*7703A= (n.*7703A=)
c.8620T= (p.Cys2874=)
c.8683T= (p.Cys2895=)
c.363+10049A=
6g.63721411A>CCA364384353EYS,PHF3c.*7703A>C (n.*7703A>C)
c.8620T>G (p.Cys2874Gly)
c.8683T>G (p.Cys2895Gly)
c.363+10049A>C
6g.63721411A>GCA364384354EYS,PHF3c.*7703A>G (n.*7703A>G)
c.8620T>C (p.Cys2874Arg)
c.8683T>C (p.Cys2895Arg)
c.363+10049A>G
 ClinVar dbSNP gnomAD v4
6g.63721411A>TCA364384355EYS,PHF3c.*7703A>T (n.*7703A>T)
c.8620T>A (p.Cys2874Ser)
c.8683T>A (p.Cys2895Ser)
c.363+10049A>T
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

Number of alleles fetched