Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12735935G>ACA2766240794USP9Yc.774-63G>A (n.774-63G>A)
n.786-63G>A
c.540-63G>A (n.540-63G>A)
Yg.12735935G>TCA2579747624USP9Yc.774-63G>T (n.774-63G>T)
n.786-63G>T
c.540-63G>T (n.540-63G>T)
Yg.12735936G>ACA2766240795USP9Yc.774-62G>A (n.774-62G>A)
n.786-62G>A
c.540-62G>A (n.540-62G>A)
Yg.12735936G>TCA2824884735USP9Yc.774-62G>T (n.774-62G>T)
n.786-62G>T
c.540-62G>T (n.540-62G>T)
Yg.12735936_12735937delCA2570491228USP9Yc.774-62_774-61del (n.774-62_774-61del)
n.786-62_786-61del
c.540-62_540-61del (n.540-62_540-61del)
Yg.12735943T>CCA2824884736USP9Yc.774-55T>C (n.774-55T>C)
n.786-55T>C
c.540-55T>C (n.540-55T>C)
Yg.12735958dupCA2525244574USP9Yc.774-40dup (n.774-40dup)
n.786-40dup
c.540-40dup (n.540-40dup)
Yg.12735955A=CA2470555358USP9Yc.774-43A= (n.774-43A=)
n.786-43A=
c.540-43A= (n.540-43A=)
Yg.12735955A>GCA645293674USP9Yc.774-43A>G (n.774-43A>G)
n.786-43A>G
c.540-43A>G (n.540-43A>G)
dbSNP gnomAD v2
Yg.12735962G>ACA2579747625USP9Yc.774-36G>A (n.774-36G>A)
n.786-36G>A
c.540-36G>A (n.540-36G>A)
Yg.12735972G>ACA2579747626USP9Yc.774-26G>A (n.774-26G>A)
n.786-26G>A
c.540-26G>A (n.540-26G>A)
Yg.12735974G>TCA2766240796USP9Yc.774-24G>T (n.774-24G>T)
n.786-24G>T
c.540-24G>T (n.540-24G>T)
Yg.12735975G=CA2470555359USP9Yc.774-23G= (n.774-23G=)
n.786-23G=
c.540-23G= (n.540-23G=)
Yg.12735975G>TCA337719252USP9Yc.774-23G>T (n.774-23G>T)
n.786-23G>T
c.540-23G>T (n.540-23G>T)
dbSNP
Yg.12735980G>ACA2766240797USP9Yc.774-18G>A (n.774-18G>A)
n.786-18G>A
c.540-18G>A (n.540-18G>A)
Yg.12735984C>ACA2579747627USP9Yc.774-14C>A (n.774-14C>A)
n.786-14C>A
c.540-14C>A (n.540-14C>A)
Yg.12735988C>ACA2516586393USP9Yc.774-10C>A (n.774-10C>A)
n.786-10C>A
c.540-10C>A (n.540-10C>A)
Yg.12735988C=CA2470555360USP9Yc.774-10C= (n.774-10C=)
n.786-10C=
c.540-10C= (n.540-10C=)
Yg.12735988C>TCA10573068USP9Yc.774-10C>T (n.774-10C>T)
n.786-10C>T
c.540-10C>T (n.540-10C>T)
dbSNP ExAC gnomAD v2
Yg.12735989G>ACA10573069USP9Yc.774-9G>A (n.774-9G>A)
n.786-9G>A
c.540-9G>A (n.540-9G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12735989G=CA2470555361USP9Yc.774-9G= (n.774-9G=)
n.786-9G=
c.540-9G= (n.540-9G=)
Yg.12735996A>CCA414985069USP9Yc.774-2A>C (n.774-2A>C)
n.786-2A>C
c.540-2A>C (n.540-2A>C)
Yg.12735996A>GCA414985065USP9Yc.774-2A>G (n.774-2A>G)
n.786-2A>G
c.540-2A>G (n.540-2A>G)
Yg.12735996A>TCA414985062USP9Yc.774-2A>T (n.774-2A>T)
n.786-2A>T
c.540-2A>T (n.540-2A>T)
Yg.12735997G>ACA414985073USP9Yc.774-1G>A (n.774-1G>A)
n.786-1G>A
c.540-1G>A (n.540-1G>A)
Yg.12735997G>CCA414985074USP9Yc.774-1G>C (n.774-1G>C)
n.786-1G>C
c.540-1G>C (n.540-1G>C)
Yg.12735997G>TCA414985075USP9Yc.774-1G>T (n.774-1G>T)
n.786-1G>T
c.540-1G>T (n.540-1G>T)
Yg.12735998A>CCA414985078USP9Yc.774A>C (p.Lys258Asn)
n.786A>C
c.540A>C (p.Lys180Asn)
Yg.12735998A>GCA520468094USP9Yc.774A>G (p.Lys258=)
n.786A>G
c.540A>G (p.Lys180=)
Yg.12735998A>TCA414985080USP9Yc.774A>T (p.Lys258Asn)
n.786A>T
c.540A>T (p.Lys180Asn)
Yg.12735999C>ACA414985083USP9Yc.775C>A (p.Pro259Thr)
n.787C>A
c.541C>A (p.Pro181Thr)
Yg.12735999C>GCA414985087USP9Yc.775C>G (p.Pro259Ala)
n.787C>G
c.541C>G (p.Pro181Ala)
Yg.12735999C>TCA414985091USP9Yc.775C>T (p.Pro259Ser)
n.787C>T
c.541C>T (p.Pro181Ser)
Yg.12736000C>ACA414985095USP9Yc.776C>A (p.Pro259Gln)
n.788C>A
c.542C>A (p.Pro181Gln)
Yg.12736000C>GCA414985099USP9Yc.776C>G (p.Pro259Arg)
n.788C>G
c.542C>G (p.Pro181Arg)
Yg.12736000C>TCA414985106USP9Yc.776C>T (p.Pro259Leu)
n.788C>T
c.542C>T (p.Pro181Leu)
Yg.12736001A>CCA520468128USP9Yc.777A>C (p.Pro259=)
n.789A>C
c.543A>C (p.Pro181=)
Yg.12736001A>GCA520468129USP9Yc.777A>G (p.Pro259=)
n.789A>G
c.543A>G (p.Pro181=)
Yg.12736001A>TCA520468132USP9Yc.777A>T (p.Pro259=)
n.789A>T
c.543A>T (p.Pro181=)
Yg.12736002T>ACA414985108USP9Yc.778T>A (p.Phe260Ile)
n.790T>A
c.544T>A (p.Phe182Ile)
Yg.12736002T>CCA414985117USP9Yc.778T>C (p.Phe260Leu)
n.790T>C
c.544T>C (p.Phe182Leu)
Yg.12736002T>GCA414985113USP9Yc.778T>G (p.Phe260Val)
n.790T>G
c.544T>G (p.Phe182Val)
Yg.12736004delCA2528521864USP9Yc.780del (p.Phe260LeufsTer13)
n.792del
c.546del (p.Phe182LeufsTer13)
Yg.12736003T>ACA414985120USP9Yc.779T>A (p.Phe260Tyr)
n.791T>A
c.545T>A (p.Phe182Tyr)
Yg.12736003T>CCA414985123USP9Yc.779T>C (p.Phe260Ser)
n.791T>C
c.545T>C (p.Phe182Ser)
Yg.12736003T>GCA414985125USP9Yc.779T>G (p.Phe260Cys)
n.791T>G
c.545T>G (p.Phe182Cys)
Yg.12736004T>ACA414985127USP9Yc.780T>A (p.Phe260Leu)
n.792T>A
c.546T>A (p.Phe182Leu)
Yg.12736004T>CCA520468170USP9Yc.780T>C (p.Phe260=)
n.792T>C
c.546T>C (p.Phe182=)
Yg.12736004T>GCA414985129USP9Yc.780T>G (p.Phe260Leu)
n.792T>G
c.546T>G (p.Phe182Leu)
Yg.12736005G>ACA414985134USP9Yc.781G>A (p.Gly261Arg)
n.793G>A
c.547G>A (p.Gly183Arg)
Yg.12736005G>CCA414985139USP9Yc.781G>C (p.Gly261Arg)
n.793G>C
c.547G>C (p.Gly183Arg)
Yg.12736005G>TCA414985141USP9Yc.781G>T (p.Gly261Ter)
n.793G>T
c.547G>T (p.Gly183Ter)
Yg.12736006G>ACA414985144USP9Yc.782G>A (p.Gly261Glu)
n.794G>A
c.548G>A (p.Gly183Glu)
Yg.12736006G>CCA414985147USP9Yc.782G>C (p.Gly261Ala)
n.794G>C
c.548G>C (p.Gly183Ala)
Yg.12736006G>TCA414985154USP9Yc.782G>T (p.Gly261Val)
n.794G>T
c.548G>T (p.Gly183Val)
Yg.12736007A>CCA520468260USP9Yc.783A>C (p.Gly261=)
n.795A>C
c.549A>C (p.Gly183=)
Yg.12736007A>GCA520468261USP9Yc.783A>G (p.Gly261=)
n.795A>G
c.549A>G (p.Gly183=)
Yg.12736007A>TCA520468262USP9Yc.783A>T (p.Gly261=)
n.795A>T
c.549A>T (p.Gly183=)
Yg.12736008C>ACA414985157USP9Yc.784C>A (p.Gln262Lys)
n.796C>A
c.550C>A (p.Gln184Lys)
Yg.12736008C>GCA414985159USP9Yc.784C>G (p.Gln262Glu)
n.796C>G
c.550C>G (p.Gln184Glu)
Yg.12736008C>TCA414985158USP9Yc.784C>T (p.Gln262Ter)
n.796C>T
c.550C>T (p.Gln184Ter)
Yg.12736009A>CCA414985163USP9Yc.785A>C (p.Gln262Pro)
n.797A>C
c.551A>C (p.Gln184Pro)
Yg.12736009A>GCA414985167USP9Yc.785A>G (p.Gln262Arg)
n.797A>G
c.551A>G (p.Gln184Arg)
Yg.12736009A>TCA414985170USP9Yc.785A>T (p.Gln262Leu)
n.797A>T
c.551A>T (p.Gln184Leu)
Yg.12736010A>CCA414985173USP9Yc.786A>C (p.Gln262His)
n.798A>C
c.552A>C (p.Gln184His)
Yg.12736010A>GCA520468302USP9Yc.786A>G (p.Gln262=)
n.798A>G
c.552A>G (p.Gln184=)
Yg.12736010A>TCA414985175USP9Yc.786A>T (p.Gln262His)
n.798A>T
c.552A>T (p.Gln184His)
Yg.12736011T>ACA414985177USP9Yc.787T>A (p.Cys263Ser)
n.799T>A
c.553T>A (p.Cys185Ser)
Yg.12736011T>CCA414985178USP9Yc.787T>C (p.Cys263Arg)
n.799T>C
c.553T>C (p.Cys185Arg)
Yg.12736011T>GCA414985182USP9Yc.787T>G (p.Cys263Gly)
n.799T>G
c.553T>G (p.Cys185Gly)
Yg.12736012G>ACA414985188USP9Yc.788G>A (p.Cys263Tyr)
n.800G>A
c.554G>A (p.Cys185Tyr)
Yg.12736012G>CCA414985192USP9Yc.788G>C (p.Cys263Ser)
n.800G>C
c.554G>C (p.Cys185Ser)
Yg.12736012G>TCA414985185USP9Yc.788G>T (p.Cys263Phe)
n.800G>T
c.554G>T (p.Cys185Phe)
Yg.12736013C>ACA414985203USP9Yc.789C>A (p.Cys263Ter)
n.801C>A
c.555C>A (p.Cys185Ter)
Yg.12736013C>GCA414985199USP9Yc.789C>G (p.Cys263Trp)
n.801C>G
c.555C>G (p.Cys185Trp)
Yg.12736013C>TCA520468336USP9Yc.789C>T (p.Cys263=)
n.801C>T
c.555C>T (p.Cys185=)
Yg.12736014T>ACA414985206USP9Yc.790T>A (p.Tyr264Asn)
n.802T>A
c.556T>A (p.Tyr186Asn)
Yg.12736014T>CCA414985211USP9Yc.790T>C (p.Tyr264His)
n.802T>C
c.556T>C (p.Tyr186His)
Yg.12736014T>GCA414985213USP9Yc.790T>G (p.Tyr264Asp)
n.802T>G
c.556T>G (p.Tyr186Asp)
Yg.12736015A=CA2470555362USP9Yc.791A= (p.Tyr264=)
n.803A=
c.557A= (p.Tyr186=)
Yg.12736015A>CCA414985217USP9Yc.791A>C (p.Tyr264Ser)
n.803A>C
c.557A>C (p.Tyr186Ser)
Yg.12736015A>GCA414985218USP9Yc.791A>G (p.Tyr264Cys)
n.803A>G
c.557A>G (p.Tyr186Cys)
Yg.12736015A>TCA10573070USP9Yc.791A>T (p.Tyr264Phe)
n.803A>T
c.557A>T (p.Tyr186Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12736016T>ACA414985221USP9Yc.792T>A (p.Tyr264Ter)
n.804T>A
c.558T>A (p.Tyr186Ter)
Yg.12736016T>CCA520470824USP9Yc.792T>C (p.Tyr264=)
n.804T>C
c.558T>C (p.Tyr186=)
Yg.12736016T>GCA414985223USP9Yc.792T>G (p.Tyr264Ter)
n.804T>G
c.558T>G (p.Tyr186Ter)
Yg.12736017G>ACA414985224USP9Yc.793G>A (p.Glu265Lys)
n.805G>A
c.559G>A (p.Glu187Lys)
Yg.12736017G>CCA414985226USP9Yc.793G>C (p.Glu265Gln)
n.805G>C
c.559G>C (p.Glu187Gln)
Yg.12736017G>TCA414985231USP9Yc.793G>T (p.Glu265Ter)
n.805G>T
c.559G>T (p.Glu187Ter)
Yg.12736018A>CCA414985235USP9Yc.794A>C (p.Glu265Ala)
n.806A>C
c.560A>C (p.Glu187Ala)
Yg.12736018A>GCA414985232USP9Yc.794A>G (p.Glu265Gly)
n.806A>G
c.560A>G (p.Glu187Gly)
Yg.12736018A>TCA414985233USP9Yc.794A>T (p.Glu265Val)
n.806A>T
c.560A>T (p.Glu187Val)
Yg.12736019G>ACA520470879USP9Yc.795G>A (p.Glu265=)
n.807G>A
c.561G>A (p.Glu187=)
Yg.12736019G>CCA414985239USP9Yc.795G>C (p.Glu265Asp)
n.807G>C
c.561G>C (p.Glu187Asp)
Yg.12736019G>TCA414985245USP9Yc.795G>T (p.Glu265Asp)
n.807G>T
c.561G>T (p.Glu187Asp)
Yg.12736020T>ACA414985248USP9Yc.796T>A (p.Phe266Ile)
n.808T>A
c.562T>A (p.Phe188Ile)
Yg.12736020T>CCA414985249USP9Yc.796T>C (p.Phe266Leu)
n.808T>C
c.562T>C (p.Phe188Leu)
Yg.12736020T>GCA414985250USP9Yc.796T>G (p.Phe266Val)
n.808T>G
c.562T>G (p.Phe188Val)
Yg.12736021T>ACA414985251USP9Yc.797T>A (p.Phe266Tyr)
n.809T>A
c.563T>A (p.Phe188Tyr)
Yg.12736021T>CCA414985252USP9Yc.797T>C (p.Phe266Ser)
n.809T>C
c.563T>C (p.Phe188Ser)
Yg.12736021T>GCA414985253USP9Yc.797T>G (p.Phe266Cys)
n.809T>G
c.563T>G (p.Phe188Cys)
Yg.12736022T>ACA414985254USP9Yc.798T>A (p.Phe266Leu)
n.810T>A
c.564T>A (p.Phe188Leu)
Yg.12736022T>CCA520470912USP9Yc.798T>C (p.Phe266=)
n.810T>C
c.564T>C (p.Phe188=)
Yg.12736022T>GCA414985255USP9Yc.798T>G (p.Phe266Leu)
n.810T>G
c.564T>G (p.Phe188Leu)
Yg.12736023C>ACA414985287USP9Yc.799C>A (p.Leu267Ile)
n.811C>A
c.565C>A (p.Leu189Ile)
Yg.12736023C>GCA414985283USP9Yc.799C>G (p.Leu267Val)
n.811C>G
c.565C>G (p.Leu189Val)
Yg.12736023C>TCA414985281USP9Yc.799C>T (p.Leu267Phe)
n.811C>T
c.565C>T (p.Leu189Phe)
Yg.12736024T>ACA414985292USP9Yc.800T>A (p.Leu267His)
n.812T>A
c.566T>A (p.Leu189His)
Yg.12736024T>CCA414985294USP9Yc.800T>C (p.Leu267Pro)
n.812T>C
c.566T>C (p.Leu189Pro)
dbSNP
Yg.12736024T>GCA414985298USP9Yc.800T>G (p.Leu267Arg)
n.812T>G
c.566T>G (p.Leu189Arg)
Yg.12736025C>ACA520470982USP9Yc.801C>A (p.Leu267=)
n.813C>A
c.567C>A (p.Leu189=)
Yg.12736025C>GCA520470981USP9Yc.801C>G (p.Leu267=)
n.813C>G
c.567C>G (p.Leu189=)
Yg.12736025C>TCA520470972USP9Yc.801C>T (p.Leu267=)
n.813C>T
c.567C>T (p.Leu189=)
Yg.12736026A>CCA414985304USP9Yc.802A>C (p.Ser268Arg)
n.814A>C
c.568A>C (p.Ser190Arg)
Yg.12736026A>GCA414985305USP9Yc.802A>G (p.Ser268Gly)
n.814A>G
c.568A>G (p.Ser190Gly)
Yg.12736026A>TCA414985306USP9Yc.802A>T (p.Ser268Cys)
n.814A>T
c.568A>T (p.Ser190Cys)
Yg.12736027G>ACA414985309USP9Yc.803G>A (p.Ser268Asn)
n.815G>A
c.569G>A (p.Ser190Asn)
Yg.12736027G>CCA414985317USP9Yc.803G>C (p.Ser268Thr)
n.815G>C
c.569G>C (p.Ser190Thr)
Yg.12736027G>TCA414985320USP9Yc.803G>T (p.Ser268Ile)
n.815G>T
c.569G>T (p.Ser190Ile)
Yg.12736028T>ACA414985325USP9Yc.804T>A (p.Ser268Arg)
n.816T>A
c.570T>A (p.Ser190Arg)
Yg.12736028T>CCA337719253USP9Yc.804T>C (p.Ser268=)
n.816T>C
c.570T>C (p.Ser190=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12736028T>GCA414985328USP9Yc.804T>G (p.Ser268Arg)
n.816T>G
c.570T>G (p.Ser190Arg)
Yg.12736028T=CA2470555363USP9Yc.804T= (p.Ser268=)
n.816T=
c.570T= (p.Ser190=)
Yg.12736029C>ACA414985350USP9Yc.805C>A (p.Gln269Lys)
n.817C>A
c.571C>A (p.Gln191Lys)
Yg.12736029C>GCA414985333USP9Yc.805C>G (p.Gln269Glu)
n.817C>G
c.571C>G (p.Gln191Glu)
Yg.12736029C>TCA414985335USP9Yc.805C>T (p.Gln269Ter)
n.817C>T
c.571C>T (p.Gln191Ter)
Yg.12736030A>CCA414985355USP9Yc.806A>C (p.Gln269Pro)
n.818A>C
c.572A>C (p.Gln191Pro)
Yg.12736030A>GCA414985365USP9Yc.806A>G (p.Gln269Arg)
n.818A>G
c.572A>G (p.Gln191Arg)
COSMIC
Yg.12736030A>TCA414985371USP9Yc.806A>T (p.Gln269Leu)
n.818A>T
c.572A>T (p.Gln191Leu)
Yg.12736031A>CCA414985374USP9Yc.807A>C (p.Gln269His)
n.819A>C
c.573A>C (p.Gln191His)
Yg.12736031A>GCA520471023USP9Yc.807A>G (p.Gln269=)
n.819A>G
c.573A>G (p.Gln191=)
Yg.12736031A>TCA414985377USP9Yc.807A>T (p.Gln269His)
n.819A>T
c.573A>T (p.Gln191His)
Yg.12736032C>ACA414985380USP9Yc.808C>A (p.His270Asn)
n.820C>A
c.574C>A (p.His192Asn)
Yg.12736032C>GCA414985382USP9Yc.808C>G (p.His270Asp)
n.820C>G
c.574C>G (p.His192Asp)
Yg.12736032C>TCA414985390USP9Yc.808C>T (p.His270Tyr)
n.820C>T
c.574C>T (p.His192Tyr)
Yg.12736033A=CA2470555364USP9Yc.809A= (p.His270=)
n.821A=
c.575A= (p.His192=)
Yg.12736033A>CCA414985393USP9Yc.809A>C (p.His270Pro)
n.821A>C
c.575A>C (p.His192Pro)
Yg.12736033A>GCA337719254USP9Yc.809A>G (p.His270Arg)
n.821A>G
c.575A>G (p.His192Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12736033A>TCA414985398USP9Yc.809A>T (p.His270Leu)
n.821A>T
c.575A>T (p.His192Leu)
Yg.12736034T>ACA414985403USP9Yc.810T>A (p.His270Gln)
n.822T>A
c.576T>A (p.His192Gln)
Yg.12736034T>CCA520471111USP9Yc.810T>C (p.His270=)
n.822T>C
c.576T>C (p.His192=)
Yg.12736034T>GCA414985401USP9Yc.810T>G (p.His270Gln)
n.822T>G
c.576T>G (p.His192Gln)
Yg.12736035A>CCA414985406USP9Yc.811A>C (p.Thr271Pro)
n.823A>C
c.577A>C (p.Thr193Pro)
Yg.12736035A>GCA414985412USP9Yc.811A>G (p.Thr271Ala)
n.823A>G
c.577A>G (p.Thr193Ala)
Yg.12736035A>TCA414985409USP9Yc.811A>T (p.Thr271Ser)
n.823A>T
c.577A>T (p.Thr193Ser)

Number of alleles fetched