Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
Xg.41136836G>ACA515966310USP9Xc.468G>A (p.Val156=)
Xg.41136836G>CCA515966313USP9Xc.468G>C (p.Val156=)
Xg.41136836G>TCA515966312USP9Xc.468G>T (p.Val156=)
Xg.41136837G>ACA412762751USP9Xc.469G>A (p.Glu157Lys)
Xg.41136837G>CCA412762755USP9Xc.469G>C (p.Glu157Gln)
Xg.41136837G>TCA412762752USP9Xc.469G>T (p.Glu157Ter)
Xg.41136838A>CCA412762757USP9Xc.470A>C (p.Glu157Ala)
Xg.41136838A>GCA412762759USP9Xc.470A>G (p.Glu157Gly)
Xg.41136838A>TCA412762761USP9Xc.470A>T (p.Glu157Val)
Xg.41136839G>ACA515966319USP9Xc.471G>A (p.Glu157=)
Xg.41136839G>CCA412762763USP9Xc.471G>C (p.Glu157Asp)
Xg.41136839G>TCA412762765USP9Xc.471G>T (p.Glu157Asp)
Xg.41136840C>ACA412762767USP9Xc.472C>A (p.Leu158Ile)
Xg.41136840C>GCA412762769USP9Xc.472C>G (p.Leu158Val)
Xg.41136840C>TCA515966321USP9Xc.472C>T (p.Leu158=)
Xg.41136841T>ACA412762771USP9Xc.473T>A (p.Leu158Gln)
Xg.41136841T>CCA412762772USP9Xc.473T>C (p.Leu158Pro)
Xg.41136841T>GCA412762775USP9Xc.473T>G (p.Leu158Arg)
Xg.41136842A=CA2425806595USP9Xc.474A= (p.Leu158=)
Xg.41136842A>CCA515966323USP9Xc.474A>C (p.Leu158=)
Xg.41136842A>GCA10388319USP9Xc.474A>G (p.Leu158=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41136842A>TCA515966325USP9Xc.474A>T (p.Leu158=)
Xg.41136843T>ACA412762778USP9Xc.475T>A (p.Cys159Ser)
Xg.41136843T>CCA412762782USP9Xc.475T>C (p.Cys159Arg)
Xg.41136843T>GCA412762780USP9Xc.475T>G (p.Cys159Gly)
Xg.41136844G>ACA412762784USP9Xc.476G>A (p.Cys159Tyr)
Xg.41136844G>CCA412762787USP9Xc.476G>C (p.Cys159Ser)
Xg.41136844G>TCA412762786USP9Xc.476G>T (p.Cys159Phe)
Xg.41136845T>ACA412762788USP9Xc.477T>A (p.Cys159Ter)
Xg.41136845T>CCA515966327USP9Xc.477T>C (p.Cys159=)
Xg.41136845T>GCA412762790USP9Xc.477T>G (p.Cys159Trp)
Xg.41136846G>ACA412762793USP9Xc.478G>A (p.Val160Met)
Xg.41136846G>CCA10388320USP9Xc.478G>C (p.Val160Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41136846G=CA2425806596USP9Xc.478G= (p.Val160=)
Xg.41136846G>TCA412762795USP9Xc.478G>T (p.Val160Leu)
Xg.41136847T>ACA412762802USP9Xc.479T>A (p.Val160Glu)
Xg.41136847T>CCA412762800USP9Xc.479T>C (p.Val160Ala)
Xg.41136847T>GCA412762798USP9Xc.479T>G (p.Val160Gly)
Xg.41136848G>ACA515966332USP9Xc.480G>A (p.Val160=)
Xg.41136848G>CCA515966333USP9Xc.480G>C (p.Val160=)
Xg.41136848G>TCA515966335USP9Xc.480G>T (p.Val160=)
Xg.41136849G>ACA10388321USP9Xc.481G>A (p.Ala161Thr)
dbSNP ExAC gnomAD v4
Xg.41136849G>CCA412762806USP9Xc.481G>C (p.Ala161Pro)
Xg.41136849G=CA2425806597USP9Xc.481G= (p.Ala161=)
Xg.41136849G>TCA412762808USP9Xc.481G>T (p.Ala161Ser)
Xg.41136850C>ACA412762811USP9Xc.482C>A (p.Ala161Asp)
Xg.41136850C>GCA412762814USP9Xc.482C>G (p.Ala161Gly)
Xg.41136850C>TCA412762815USP9Xc.482C>T (p.Ala161Val)
Xg.41136851C>ACA515966342USP9Xc.483C>A (p.Ala161=)
dbSNP gnomAD v3 gnomAD v4
Xg.41136851C=CA2425806598USP9Xc.483C= (p.Ala161=)
Xg.41136851C>GCA515966345USP9Xc.483C>G (p.Ala161=)
dbSNP gnomAD v2 gnomAD v4
Xg.41136851C>TCA515966344USP9Xc.483C>T (p.Ala161=)
Xg.41136852A>CCA412762820USP9Xc.484A>C (p.Lys162Gln)
Xg.41136852A>GCA412762824USP9Xc.484A>G (p.Lys162Glu)
Xg.41136852A>TCA412762821USP9Xc.484A>T (p.Lys162Ter)
Xg.41136853A>CCA412762827USP9Xc.485A>C (p.Lys162Thr)
Xg.41136853A>GCA412762830USP9Xc.485A>G (p.Lys162Arg)
Xg.41136853A>TCA412762833USP9Xc.485A>T (p.Lys162Met)
Xg.41136854G>ACA515966350USP9Xc.486G>A (p.Lys162=)
gnomAD v4
Xg.41136854G>CCA412762836USP9Xc.486G>C (p.Lys162Asn)
Xg.41136854G>TCA412762838USP9Xc.486G>T (p.Lys162Asn)
Xg.41136855T>ACA412762842USP9Xc.487T>A (p.Leu163Met)
Xg.41136855T>CCA10388322USP9Xc.487T>C (p.Leu163=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136855T>GCA412762846USP9Xc.487T>G (p.Leu163Val)
Xg.41136855T=CA2425806599USP9Xc.487T= (p.Leu163=)
Xg.41136856T>ACA412762850USP9Xc.488T>A (p.Leu163Ter)
Xg.41136856T>CCA412762853USP9Xc.488T>C (p.Leu163Ser)
Xg.41136856T>GCA412762854USP9Xc.488T>G (p.Leu163Trp)
Xg.41136857G>ACA515966358USP9Xc.489G>A (p.Leu163=)
Xg.41136857G>CCA412762858USP9Xc.489G>C (p.Leu163Phe)
Xg.41136857G>TCA412762860USP9Xc.489G>T (p.Leu163Phe)
Xg.41136858T>ACA412762863USP9Xc.490T>A (p.Ser164Thr)
Xg.41136858T>CCA412762866USP9Xc.490T>C (p.Ser164Pro)
Xg.41136858T>GCA412762869USP9Xc.490T>G (p.Ser164Ala)
Xg.41136859C>ACA412762873USP9Xc.491C>A (p.Ser164Tyr)
Xg.41136859C>GCA412762876USP9Xc.491C>G (p.Ser164Cys)
Xg.41136859C>TCA412762879USP9Xc.491C>T (p.Ser164Phe)
Xg.41136860C>ACA515966363USP9Xc.492C>A (p.Ser164=)
Xg.41136860C>GCA515966364USP9Xc.492C>G (p.Ser164=)
Xg.41136860C>TCA515966365USP9Xc.492C>T (p.Ser164=)
gnomAD v4
Xg.41136861C>ACA412762892USP9Xc.493C>A (p.Gln165Lys)
Xg.41136861C>GCA412762891USP9Xc.493C>G (p.Gln165Glu)
Xg.41136861C>TCA412762883USP9Xc.493C>T (p.Gln165Ter)
Xg.41136862A>CCA412762894USP9Xc.494A>C (p.Gln165Pro)
Xg.41136862A>GCA412762898USP9Xc.494A>G (p.Gln165Arg)
Xg.41136862A>TCA412762900USP9Xc.494A>T (p.Gln165Leu)
Xg.41136863A=CA2425806600USP9Xc.495A= (p.Gln165=)
Xg.41136863A>CCA412762903USP9Xc.495A>C (p.Gln165His)
gnomAD v4
Xg.41136863A>GCA10388323USP9Xc.495A>G (p.Gln165=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41136863A>TCA412762907USP9Xc.495A>T (p.Gln165His)
Xg.41136864G>ACA412762911USP9Xc.496G>A (p.Asp166Asn)
Xg.41136864G>CCA412762916USP9Xc.496G>C (p.Asp166His)
Xg.41136864G>TCA412762913USP9Xc.496G>T (p.Asp166Tyr)
Xg.41136865A>CCA412762920USP9Xc.497A>C (p.Asp166Ala)
Xg.41136865A>GCA412762923USP9Xc.497A>G (p.Asp166Gly)
Xg.41136865A>TCA412762924USP9Xc.497A>T (p.Asp166Val)
Xg.41136866C>ACA412762927USP9Xc.498C>A (p.Asp166Glu)
Xg.41136866C>GCA412762930USP9Xc.498C>G (p.Asp166Glu)
Xg.41136866C>TCA515966375USP9Xc.498C>T (p.Asp166=)
Xg.41136867T>ACA412762933USP9Xc.499T>A (p.Trp167Arg)
Xg.41136867T>CCA412762936USP9Xc.499T>C (p.Trp167Arg)
dbSNP
Xg.41136867T>GCA412762938USP9Xc.499T>G (p.Trp167Gly)
Xg.41136867T=CA2425806601USP9Xc.499T= (p.Trp167=)
Xg.41136868G>ACA412762941USP9Xc.500G>A (p.Trp167Ter)
Xg.41136868G>CCA412762944USP9Xc.500G>C (p.Trp167Ser)
Xg.41136868G>TCA412762947USP9Xc.500G>T (p.Trp167Leu)
Xg.41136869G>ACA412762950USP9Xc.501G>A (p.Trp167Ter)
Xg.41136869G>CCA412762955USP9Xc.501G>C (p.Trp167Cys)
Xg.41136869G>TCA412762952USP9Xc.501G>T (p.Trp167Cys)
Xg.41136870T>ACA412762958USP9Xc.502T>A (p.Phe168Ile)
Xg.41136870T>CCA412762962USP9Xc.502T>C (p.Phe168Leu)
Xg.41136870T>GCA412762959USP9Xc.502T>G (p.Phe168Val)
Xg.41136871T>ACA412762966USP9Xc.503T>A (p.Phe168Tyr)
Xg.41136871T>CCA412762968USP9Xc.503T>C (p.Phe168Ser)
gnomAD v4
Xg.41136871T>GCA412762971USP9Xc.503T>G (p.Phe168Cys)
Xg.41136872T>ACA412762974USP9Xc.504T>A (p.Phe168Leu)
gnomAD v4
Xg.41136872T>CCA515966383USP9Xc.504T>C (p.Phe168=)
Xg.41136872T>GCA412762977USP9Xc.504T>G (p.Phe168Leu)
Xg.41136873C>ACA412762981USP9Xc.505C>A (p.Pro169Thr)
Xg.41136873C>GCA412762983USP9Xc.505C>G (p.Pro169Ala)
Xg.41136873C>TCA412762984USP9Xc.505C>T (p.Pro169Ser)
Xg.41136874C>ACA412762989USP9Xc.506C>A (p.Pro169Gln)
Xg.41136874C>GCA412762991USP9Xc.506C>G (p.Pro169Arg)
Xg.41136874C>TCA412762993USP9Xc.506C>T (p.Pro169Leu)
Xg.41136875A>CCA515966390USP9Xc.507A>C (p.Pro169=)
Xg.41136875A>GCA515966388USP9Xc.507A>G (p.Pro169=)
Xg.41136875A>TCA515966389USP9Xc.507A>T (p.Pro169=)
Xg.41136876C>ACA412763002USP9Xc.508C>A (p.Leu170Ile)
Xg.41136876C=CA2425806602USP9Xc.508C= (p.Leu170=)
Xg.41136876C>GCA412762997USP9Xc.508C>G (p.Leu170Val)
dbSNP
Xg.41136876C>TCA412763000USP9Xc.508C>T (p.Leu170Phe)
Xg.41136877T>ACA412763005USP9Xc.509T>A (p.Leu170His)
Xg.41136877T>CCA412763008USP9Xc.509T>C (p.Leu170Pro)
Xg.41136877T>GCA412763011USP9Xc.509T>G (p.Leu170Arg)
Xg.41136878T>ACA515966396USP9Xc.510T>A (p.Leu170=)
Xg.41136878T>CCA515966399USP9Xc.510T>C (p.Leu170=)
Xg.41136878T>GCA515966398USP9Xc.510T>G (p.Leu170=)
Xg.41136879T>ACA412763014USP9Xc.511T>A (p.Leu171Ile)
Xg.41136879T>CCA515966401USP9Xc.511T>C (p.Leu171=)
ClinVar dbSNP
Xg.41136879T>GCA412763017USP9Xc.511T>G (p.Leu171Val)
Xg.41136880T>ACA412763018USP9Xc.512T>A (p.Leu171Ter)
Xg.41136880T>CCA412763019USP9Xc.512T>C (p.Leu171Ser)
Xg.41136880T>GCA412763020USP9Xc.512T>G (p.Leu171Ter)
Xg.41136881A>CCA412763021USP9Xc.513A>C (p.Leu171Phe)
Xg.41136881A>GCA515966405USP9Xc.513A>G (p.Leu171=)
Xg.41136881A>TCA412763023USP9Xc.513A>T (p.Leu171Phe)
Xg.41136882G>ACA412763027USP9Xc.514G>A (p.Glu172Lys)
Xg.41136882G>CCA412763030USP9Xc.514G>C (p.Glu172Gln)
Xg.41136882G>TCA412763026USP9Xc.514G>T (p.Glu172Ter)
Xg.41136883A>CCA412763033USP9Xc.515A>C (p.Glu172Ala)
Xg.41136883A>GCA412763036USP9Xc.515A>G (p.Glu172Gly)
Xg.41136883A>TCA412763038USP9Xc.515A>T (p.Glu172Val)
Xg.41136884A=CA2425806603USP9Xc.516A= (p.Glu172=)
Xg.41136884A>CCA329012338USP9Xc.516A>C (p.Glu172Asp)
dbSNP
Xg.41136884A>GCA515966409USP9Xc.516A>G (p.Glu172=)
Xg.41136884A>TCA412763044USP9Xc.516A>T (p.Glu172Asp)
Xg.41136884_41136887delinsACTTCA2425806604USP9Xc.516_519delinsACTT (p.Glu172=)
Xg.41136885C>ACA412763053USP9Xc.517C>A (p.Leu173Ile)
Xg.41136885C>GCA412763055USP9Xc.517C>G (p.Leu173Val)
Xg.41136885C>TCA412763050USP9Xc.517C>T (p.Leu173Phe)
Xg.41136888_41136890delCA16043269USP9Xc.520_522del (p.Leu174del)
ClinVar dbSNP
Xg.41136886T>ACA412763057USP9Xc.518T>A (p.Leu173His)
Xg.41136886T>CCA412763058USP9Xc.518T>C (p.Leu173Pro)
Xg.41136886T>GCA412763059USP9Xc.518T>G (p.Leu173Arg)
Xg.41136887T>ACA515966413USP9Xc.519T>A (p.Leu173=)
Xg.41136887T>CCA515966414USP9Xc.519T>C (p.Leu173=)
Xg.41136887T>GCA515966415USP9Xc.519T>G (p.Leu173=)
Xg.41136888C>ACA412763060USP9Xc.520C>A (p.Leu174Ile)
Xg.41136888C>GCA412763062USP9Xc.520C>G (p.Leu174Val)
Xg.41136888C>TCA412763064USP9Xc.520C>T (p.Leu174Phe)
Xg.41136889T>ACA412763066USP9Xc.521T>A (p.Leu174His)
Xg.41136889T>CCA412763068USP9Xc.521T>C (p.Leu174Pro)
Xg.41136889T>GCA412763071USP9Xc.521T>G (p.Leu174Arg)
Xg.41136890T>ACA515966416USP9Xc.522T>A (p.Leu174=)
Xg.41136890T>CCA515966417USP9Xc.522T>C (p.Leu174=)
Xg.41136890T>GCA515966418USP9Xc.522T>G (p.Leu174=)
Xg.41136891G>ACA412763074USP9Xc.523G>A (p.Ala175Thr)
Xg.41136891G>CCA412763081USP9Xc.523G>C (p.Ala175Pro)
Xg.41136891G>TCA412763077USP9Xc.523G>T (p.Ala175Ser)
gnomAD v4
Xg.41136892C>ACA412763085USP9Xc.524C>A (p.Ala175Asp)
Xg.41136892C>GCA412763087USP9Xc.524C>G (p.Ala175Gly)
Xg.41136892C>TCA412763091USP9Xc.524C>T (p.Ala175Val)
Xg.41136893C>ACA515966423USP9Xc.525C>A (p.Ala175=)
ClinVar
Xg.41136893C=CA2425806605USP9Xc.525C= (p.Ala175=)
Xg.41136893C>GCA10388324USP9Xc.525C>G (p.Ala175=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41136893C>TCA515966424USP9Xc.525C>T (p.Ala175=)

Number of alleles fetched