Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41136735T>CCA2693506247USP9Xc.436-69T>C (n.436-69T>C)
gnomAD v4
Xg.41136736G>ACA2579587353USP9Xc.436-68G>A (n.436-68G>A)
Xg.41136736G>TCA2693506248USP9Xc.436-68G>T (n.436-68G>T)
gnomAD v4
Xg.41136737G=CA2425806558USP9Xc.436-67G= (n.436-67G=)
Xg.41136737G>TCA875381294USP9Xc.436-67G>T (n.436-67G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.41136739delCA2579587354USP9Xc.436-65del (n.436-65del)
Xg.41136739A>GCA2693506249USP9Xc.436-65A>G (n.436-65A>G)
gnomAD v4
Xg.41136741A>TCA2579587355USP9Xc.436-63A>T (n.436-63A>T)
Xg.41136743_41136744delCA2693506250USP9Xc.436-61_436-60del (n.436-61_436-60del)
gnomAD v4
Xg.41136744T>CCA641899611USP9Xc.436-60T>C (n.436-60T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136744T=CA2425806559USP9Xc.436-60T= (n.436-60T=)
Xg.41136747_41136748delCA2579587356USP9Xc.436-57_436-56del (n.436-57_436-56del)
gnomAD v4
Xg.41136747C>ACA2514391424USP9Xc.436-57C>A (n.436-57C>A)
gnomAD v4
Xg.41136749G>CCA2425806561USP9Xc.436-55G>C (n.436-55G>C)
dbSNP gnomAD v4
Xg.41136749G=CA2425806560USP9Xc.436-55G= (n.436-55G=)
Xg.41136750T>CCA329012299USP9Xc.436-54T>C (n.436-54T>C)
dbSNP gnomAD v3 gnomAD v4
Xg.41136750T=CA2425806562USP9Xc.436-54T= (n.436-54T=)
Xg.41136752T>CCA2693506251USP9Xc.436-52T>C (n.436-52T>C)
gnomAD v4
Xg.41136755A>GCA2536660297USP9Xc.436-49A>G (n.436-49A>G)
Xg.41136758T>CCA2579587357USP9Xc.436-46T>C (n.436-46T>C)
Xg.41136758T>GCA641899612USP9Xc.436-46T>G (n.436-46T>G)
dbSNP gnomAD v2 gnomAD v4
Xg.41136758T=CA2425806563USP9Xc.436-46T= (n.436-46T=)
Xg.41136759G>TCA2693506252USP9Xc.436-45G>T (n.436-45G>T)
gnomAD v4
Xg.41136760C>ACA2693506253USP9Xc.436-44C>A (n.436-44C>A)
gnomAD v4
Xg.41136761A=CA2425806564USP9Xc.436-43A= (n.436-43A=)
Xg.41136761A>GCA329012301USP9Xc.436-43A>G (n.436-43A>G)
dbSNP gnomAD v2 gnomAD v4
Xg.41136761A>TCA2693506254USP9Xc.436-43A>T (n.436-43A>T)
gnomAD v4
Xg.41136763T>GCA2738459742USP9Xc.436-41T>G (n.436-41T>G)
dbSNP
Xg.41136767T>CCA2693506255USP9Xc.436-37T>C (n.436-37T>C)
gnomAD v4
Xg.41136768T>ACA641899613USP9Xc.436-36T>A (n.436-36T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136768T>GCA641899614USP9Xc.436-36T>G (n.436-36T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136768T=CA2425806565USP9Xc.436-36T= (n.436-36T=)
Xg.41136769G>CCA2579587358USP9Xc.436-35G>C (n.436-35G>C)
Xg.41136769G=CA2425806567USP9Xc.436-35G= (n.436-35G=)
Xg.41136769G>TCA2425806566USP9Xc.436-35G>T (n.436-35G>T)
dbSNP gnomAD v4
Xg.41136772C>ACA2693506256USP9Xc.436-32C>A (n.436-32C>A)
gnomAD v4
Xg.41136772C=CA2425806568USP9Xc.436-32C= (n.436-32C=)
Xg.41136772C>GCA875381313USP9Xc.436-32C>G (n.436-32C>G)
dbSNP
Xg.41136775G>CCA2693506257USP9Xc.436-29G>C (n.436-29G>C)
gnomAD v4
Xg.41136776T>ACA2693506258USP9Xc.436-28T>A (n.436-28T>A)
gnomAD v4
Xg.41136778A>CCA2579587359USP9Xc.436-26A>C (n.436-26A>C)
gnomAD v4
Xg.41136780T>CCA2693506259USP9Xc.436-24T>C (n.436-24T>C)
gnomAD v4
Xg.41136781C>ACA2693506260USP9Xc.436-23C>A (n.436-23C>A)
gnomAD v4
Xg.41136781C=CA2425806569USP9Xc.436-23C= (n.436-23C=)
Xg.41136781C>GCA2693506261USP9Xc.436-23C>G (n.436-23C>G)
gnomAD v4
Xg.41136781C>TCA2425806570USP9Xc.436-23C>T (n.436-23C>T)
dbSNP gnomAD v4
Xg.41136782G>ACA641899615USP9Xc.436-22G>A (n.436-22G>A)
dbSNP gnomAD v2 gnomAD v4
Xg.41136782G>CCA2579587361USP9Xc.436-22G>C (n.436-22G>C)
Xg.41136782G=CA2425806571USP9Xc.436-22G= (n.436-22G=)
Xg.41136782G>TCA2579587360USP9Xc.436-22G>T (n.436-22G>T)
Xg.41136783C>ACA2693506262USP9Xc.436-21C>A (n.436-21C>A)
gnomAD v4
Xg.41136783C=CA2425806572USP9Xc.436-21C= (n.436-21C=)
Xg.41136783C>TCA641899616USP9Xc.436-21C>T (n.436-21C>T)
dbSNP gnomAD v2 gnomAD v4
Xg.41136784C>ACA2693506263USP9Xc.436-20C>A (n.436-20C>A)
gnomAD v4
Xg.41136784C>TCA2693506264USP9Xc.436-20C>T (n.436-20C>T)
gnomAD v4
Xg.41136786T>CCA641899617USP9Xc.436-18T>C (n.436-18T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136786T=CA2425806573USP9Xc.436-18T= (n.436-18T=)
Xg.41136787T>CCA2579587362USP9Xc.436-17T>C (n.436-17T>C)
gnomAD v4
Xg.41136788C>ACA2693506266USP9Xc.436-16C>A (n.436-16C>A)
gnomAD v4
Xg.41136788C>TCA2693506267USP9Xc.436-16C>T (n.436-16C>T)
gnomAD v4
Xg.41136792delCA2693506265USP9Xc.436-12del (n.436-12del)
gnomAD v4
Xg.41136788_41136789insATCAAGCCAAACCAGTTGCGATACACTTCGGTTTTTTCTTCCGCATCAACGGCGGCGACCGAGTCTTCGCAGTCTTGAATGGTAGTAACGGCTGATTCCATCAACACATCTTTAATGCCTGCTGGGTCGTCA2549878731USP9Xc.436-16_436-15insATCAAGCCAAACCAGTTGCGATACACTTCGGTTTTTTCTTCCGCATCAACGGCGGCGACCGAGTCTTCGCAGTCTTGAATGGTAGTAACGGCTGATTCCATCAACACATCTTTAATGCCTGCTGGGTCGT (n.436-16_436-15insATCAAGCCAAACCAGTTGCGATACACTTCGGTTTTTTCTTCCGCATCAACGGCGGCGACCGAGTCTTCGCAGTCTTGAATGGTAGTAACGGCTGATTCCATCAACACATCTTTAATGCCTGCTGGGTCGT)
Xg.41136789C>ACA2693506268USP9Xc.436-15C>A (n.436-15C>A)
gnomAD v4
Xg.41136790C>ACA2425806575USP9Xc.436-14C>A (n.436-14C>A)
dbSNP
Xg.41136790C=CA2425806574USP9Xc.436-14C= (n.436-14C=)
Xg.41136790C>GCA875381323USP9Xc.436-14C>G (n.436-14C>G)
dbSNP gnomAD v3 gnomAD v4
Xg.41136790C>TCA641899618USP9Xc.436-14C>T (n.436-14C>T)
dbSNP gnomAD v2 gnomAD v4
Xg.41136791C>ACA2693506269USP9Xc.436-13C>A (n.436-13C>A)
dbSNP gnomAD v4
Xg.41136791C=CA2425806576USP9Xc.436-13C= (n.436-13C=)
Xg.41136791C>GCA2425806577USP9Xc.436-13C>G (n.436-13C>G)
dbSNP
Xg.41136792C>ACA641899619USP9Xc.436-12C>A (n.436-12C>A)
dbSNP gnomAD v2 gnomAD v4
Xg.41136792C=CA2425806578USP9Xc.436-12C= (n.436-12C=)
Xg.41136792C>TCA641899620USP9Xc.436-12C>T (n.436-12C>T)
dbSNP gnomAD v2 gnomAD v4
Xg.41136793T>CCA2693506270USP9Xc.436-11T>C (n.436-11T>C)
gnomAD v4
Xg.41136793T>GCA2579587365USP9Xc.436-11T>G (n.436-11T>G)
Xg.41136794T>GCA2820574378USP9Xc.436-10T>G (n.436-10T>G)
Xg.41136795G>ACA2693506271USP9Xc.436-9G>A (n.436-9G>A)
gnomAD v4
Xg.41136795G=CA2425806579USP9Xc.436-9G= (n.436-9G=)
Xg.41136795G>TCA1132559659USP9Xc.436-9G>T (n.436-9G>T)
dbSNP gnomAD v3 gnomAD v4
Xg.41136797A=CA2425806580USP9Xc.436-7A= (n.436-7A=)
Xg.41136797A>CCA2693506272USP9Xc.436-7A>C (n.436-7A>C)
dbSNP gnomAD v4
Xg.41136797A>GCA10388313USP9Xc.436-7A>G (n.436-7A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136800A=CA2425806581USP9Xc.436-4A= (n.436-4A=)
Xg.41136800A>GCA2693506273USP9Xc.436-4A>G (n.436-4A>G)
gnomAD v4
Xg.41136800A>TCA1132559662USP9Xc.436-4A>T (n.436-4A>T)
dbSNP gnomAD v3 gnomAD v4
Xg.41136801C>ACA2693506274USP9Xc.436-3C>A (n.436-3C>A)
gnomAD v4
Xg.41136802A>CCA412762566USP9Xc.436-2A>C (n.436-2A>C)
Xg.41136802A>GCA412762568USP9Xc.436-2A>G (n.436-2A>G)
Xg.41136802A>TCA412762571USP9Xc.436-2A>T (n.436-2A>T)
Xg.41136803G>ACA412762580USP9Xc.436-1G>A (n.436-1G>A)
COSMIC
Xg.41136803G>CCA412762577USP9Xc.436-1G>C (n.436-1G>C)
Xg.41136803G>TCA412762574USP9Xc.436-1G>T (n.436-1G>T)
Xg.41136804A=CA2425806582USP9Xc.436A= (p.Arg146=)
Xg.41136804A>CCA515966255USP9Xc.436A>C (p.Arg146=)
Xg.41136804A>GCA10388314USP9Xc.436A>G (p.Arg146Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41136804A>TCA412762585USP9Xc.436A>T (p.Arg146Trp)
Xg.41136805G>ACA10388315USP9Xc.437G>A (p.Arg146Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136805G>CCA412762590USP9Xc.437G>C (p.Arg146Thr)
Xg.41136805G=CA2425806583USP9Xc.437G= (p.Arg146=)
Xg.41136805G>TCA412762593USP9Xc.437G>T (p.Arg146Met)
Xg.41136806G>ACA10388316USP9Xc.438G>A (p.Arg146=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136806G>CCA412762598USP9Xc.438G>C (p.Arg146Ser)
Xg.41136806G=CA2425806584USP9Xc.438G= (p.Arg146=)
Xg.41136806G>TCA412762601USP9Xc.438G>T (p.Arg146Ser)
Xg.41136807T>ACA412762604USP9Xc.439T>A (p.Cys147Ser)
Xg.41136807T>CCA412762607USP9Xc.439T>C (p.Cys147Arg)
Xg.41136807T>GCA412762610USP9Xc.439T>G (p.Cys147Gly)
Xg.41136808G>ACA412762613USP9Xc.440G>A (p.Cys147Tyr)
gnomAD v4
Xg.41136808G>CCA412762615USP9Xc.440G>C (p.Cys147Ser)
Xg.41136808G>TCA412762618USP9Xc.440G>T (p.Cys147Phe)
Xg.41136809T>ACA412762623USP9Xc.441T>A (p.Cys147Ter)
Xg.41136809T>CCA515966262USP9Xc.441T>C (p.Cys147=)
dbSNP gnomAD v4
Xg.41136809T>GCA412762625USP9Xc.441T>G (p.Cys147Trp)
Xg.41136809T=CA2425806585USP9Xc.441T= (p.Cys147=)
Xg.41136810A>CCA412762629USP9Xc.442A>C (p.Ile148Leu)
Xg.41136810A>GCA412762632USP9Xc.442A>G (p.Ile148Val)
gnomAD v4
Xg.41136810A>TCA412762633USP9Xc.442A>T (p.Ile148Phe)
Xg.41136811T>ACA412762638USP9Xc.443T>A (p.Ile148Asn)
Xg.41136811T>CCA412762639USP9Xc.443T>C (p.Ile148Thr)
Xg.41136811T>GCA412762641USP9Xc.443T>G (p.Ile148Ser)
Xg.41136812T>ACA515966267USP9Xc.444T>A (p.Ile148=)
gnomAD v4
Xg.41136812T>CCA515966268USP9Xc.444T>C (p.Ile148=)
Xg.41136812T>GCA412762644USP9Xc.444T>G (p.Ile148Met)
Xg.41136813A>CCA412762646USP9Xc.445A>C (p.Ile149Leu)
Xg.41136813A>GCA412762647USP9Xc.445A>G (p.Ile149Val)
Xg.41136813A>TCA412762650USP9Xc.445A>T (p.Ile149Phe)
Xg.41136814T>ACA412762652USP9Xc.446T>A (p.Ile149Asn)
Xg.41136814T>CCA412762654USP9Xc.446T>C (p.Ile149Thr)
Xg.41136814T>GCA412762656USP9Xc.446T>G (p.Ile149Ser)
Xg.41136815T>ACA515966276USP9Xc.447T>A (p.Ile149=)
Xg.41136815T>CCA515966279USP9Xc.447T>C (p.Ile149=)
Xg.41136815T>GCA412762658USP9Xc.447T>G (p.Ile149Met)
Xg.41136816A=CA2425806586USP9Xc.448A= (p.Asn150=)
Xg.41136816A>CCA412762662USP9Xc.448A>C (p.Asn150His)
Xg.41136816A>GCA412762660USP9Xc.448A>G (p.Asn150Asp)
Xg.41136816A>TCA412762663USP9Xc.448A>T (p.Asn150Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41136817A>CCA412762665USP9Xc.449A>C (p.Asn150Thr)
Xg.41136817A>GCA412762667USP9Xc.449A>G (p.Asn150Ser)
Xg.41136817A>TCA412762668USP9Xc.449A>T (p.Asn150Ile)
Xg.41136818C>ACA412762670USP9Xc.450C>A (p.Asn150Lys)
Xg.41136818C=CA2425806587USP9Xc.450C= (p.Asn150=)
Xg.41136818C>GCA412762672USP9Xc.450C>G (p.Asn150Lys)
Xg.41136818C>TCA515966284USP9Xc.450C>T (p.Asn150=)
dbSNP
Xg.41136819A>CCA412762674USP9Xc.451A>C (p.Asn151His)
Xg.41136819A>GCA412762676USP9Xc.451A>G (p.Asn151Asp)
Xg.41136819A>TCA412762678USP9Xc.451A>T (p.Asn151Tyr)
Xg.41136820A>CCA412762680USP9Xc.452A>C (p.Asn151Thr)
Xg.41136820A>GCA412762683USP9Xc.452A>G (p.Asn151Ser)
COSMIC
Xg.41136820A>TCA412762684USP9Xc.452A>T (p.Asn151Ile)
Xg.41136821T>ACA412762687USP9Xc.453T>A (p.Asn151Lys)
Xg.41136821T>CCA515966290USP9Xc.453T>C (p.Asn151=)
Xg.41136821T>GCA412762688USP9Xc.453T>G (p.Asn151Lys)
Xg.41136822A>CCA412762694USP9Xc.454A>C (p.Thr152Pro)
Xg.41136822A>GCA412762690USP9Xc.454A>G (p.Thr152Ala)
Xg.41136822A>TCA412762692USP9Xc.454A>T (p.Thr152Ser)
Xg.41136823C>ACA412762696USP9Xc.455C>A (p.Thr152Asn)
gnomAD v4
Xg.41136823C>GCA412762698USP9Xc.455C>G (p.Thr152Ser)
Xg.41136823C>TCA412762700USP9Xc.455C>T (p.Thr152Ile)
Xg.41136824T>ACA515966292USP9Xc.456T>A (p.Thr152=)
Xg.41136824T>CCA515966293USP9Xc.456T>C (p.Thr152=)
Xg.41136824T>GCA515966294USP9Xc.456T>G (p.Thr152=)
Xg.41136825C>ACA412762702USP9Xc.457C>A (p.His153Asn)
Xg.41136825C=CA2425806588USP9Xc.457C= (p.His153=)
Xg.41136825C>GCA412762704USP9Xc.457C>G (p.His153Asp)
Xg.41136825C>TCA412762706USP9Xc.457C>T (p.His153Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136826A>CCA412762708USP9Xc.458A>C (p.His153Pro)
Xg.41136826A>GCA412762710USP9Xc.458A>G (p.His153Arg)
Xg.41136826A>TCA412762711USP9Xc.458A>T (p.His153Leu)
Xg.41136827T>ACA412762714USP9Xc.459T>A (p.His153Gln)
Xg.41136827T>CCA10388317USP9Xc.459T>C (p.His153=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41136827T>GCA412762717USP9Xc.459T>G (p.His153Gln)
Xg.41136827T=CA2425806589USP9Xc.459T= (p.His153=)
Xg.41136828C>ACA412762723USP9Xc.460C>A (p.Arg154Ser)
Xg.41136828C=CA2425806590USP9Xc.460C= (p.Arg154=)
Xg.41136828C>GCA412762721USP9Xc.460C>G (p.Arg154Gly)
Xg.41136828C>TCA412762720USP9Xc.460C>T (p.Arg154Cys)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.41136829G>ACA10388318USP9Xc.461G>A (p.Arg154His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136829G>CCA412762726USP9Xc.461G>C (p.Arg154Pro)
Xg.41136829G=CA2425806591USP9Xc.461G= (p.Arg154=)
Xg.41136829G>TCA412762728USP9Xc.461G>T (p.Arg154Leu)
Xg.41136830T>ACA515966297USP9Xc.462T>A (p.Arg154=)
Xg.41136830T>CCA515966300USP9Xc.462T>C (p.Arg154=)
Xg.41136830T>GCA515966299USP9Xc.462T>G (p.Arg154=)
Xg.41136831C>ACA412762730USP9Xc.463C>A (p.Leu155Met)
Xg.41136831C=CA2425806592USP9Xc.463C= (p.Leu155=)
Xg.41136831C>GCA412762732USP9Xc.463C>G (p.Leu155Val)
gnomAD v4
Xg.41136831C>TCA329012326USP9Xc.463C>T (p.Leu155=)
dbSNP gnomAD v2 gnomAD v4
Xg.41136832T>ACA412762737USP9Xc.464T>A (p.Leu155Gln)
Xg.41136832T>CCA412762735USP9Xc.464T>C (p.Leu155Pro)
Xg.41136832T>GCA412762734USP9Xc.464T>G (p.Leu155Arg)
Xg.41136833G>ACA515966307USP9Xc.465G>A (p.Leu155=)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41136833G>CCA515966305USP9Xc.465G>C (p.Leu155=)
Xg.41136833G=CA2425806593USP9Xc.465G= (p.Leu155=)
Xg.41136833G>TCA515966303USP9Xc.465G>T (p.Leu155=)
Xg.41136834delCA2548185416USP9Xc.466del (p.Val156TrpfsTer16)
Xg.41136834G>ACA412762740USP9Xc.466G>A (p.Val156Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136834G>CCA412762742USP9Xc.466G>C (p.Val156Leu)
Xg.41136834G=CA2425806594USP9Xc.466G= (p.Val156=)
Xg.41136834G>TCA412762743USP9Xc.466G>T (p.Val156Leu)
gnomAD v4
Xg.41136835T>ACA412762746USP9Xc.467T>A (p.Val156Glu)
Xg.41136835T>CCA412762747USP9Xc.467T>C (p.Val156Ala)
Xg.41136835T>GCA412762749USP9Xc.467T>G (p.Val156Gly)
gnomAD v4

Number of alleles fetched