Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12735608A>GCA2579747613USP9Yc.658-4A>G (n.658-4A>G)
n.670-4A>G
c.424-4A>G (n.424-4A>G)
Yg.12735609_12735610delCA2579747614USP9Yc.658-3_658-2del (n.658-3_658-2del)
n.670-3_670-2del
c.424-3_424-2del (n.424-3_424-2del)
Yg.12735610A>CCA414983789USP9Yc.658-2A>C (n.658-2A>C)
n.670-2A>C
c.424-2A>C (n.424-2A>C)
Yg.12735610A>GCA414983792USP9Yc.658-2A>G (n.658-2A>G)
n.670-2A>G
c.424-2A>G (n.424-2A>G)
Yg.12735610A>TCA414983796USP9Yc.658-2A>T (n.658-2A>T)
n.670-2A>T
c.424-2A>T (n.424-2A>T)
Yg.12735611G>ACA414983800USP9Yc.658-1G>A (n.658-1G>A)
n.670-1G>A
c.424-1G>A (n.424-1G>A)
Yg.12735611G>CCA414983823USP9Yc.658-1G>C (n.658-1G>C)
n.670-1G>C
c.424-1G>C (n.424-1G>C)
Yg.12735611G>TCA414983827USP9Yc.658-1G>T (n.658-1G>T)
n.670-1G>T
c.424-1G>T (n.424-1G>T)
Yg.12735612G>ACA414983838USP9Yc.658G>A (p.Gly220Ser)
n.670G>A
c.424G>A (p.Gly142Ser)
Yg.12735612G>CCA414983842USP9Yc.658G>C (p.Gly220Arg)
n.670G>C
c.424G>C (p.Gly142Arg)
Yg.12735612G>TCA414983834USP9Yc.658G>T (p.Gly220Cys)
n.670G>T
c.424G>T (p.Gly142Cys)
Yg.12735613G>ACA414983843USP9Yc.659G>A (p.Gly220Asp)
n.671G>A
c.425G>A (p.Gly142Asp)
Yg.12735613G>CCA414983844USP9Yc.659G>C (p.Gly220Ala)
n.671G>C
c.425G>C (p.Gly142Ala)
Yg.12735613G>TCA414983847USP9Yc.659G>T (p.Gly220Val)
n.671G>T
c.425G>T (p.Gly142Val)
Yg.12735614T>ACA519864665USP9Yc.660T>A (p.Gly220=)
n.672T>A
c.426T>A (p.Gly142=)
Yg.12735614T>CCA519864676USP9Yc.660T>C (p.Gly220=)
n.672T>C
c.426T>C (p.Gly142=)
Yg.12735614T>GCA519864669USP9Yc.660T>G (p.Gly220=)
n.672T>G
c.426T>G (p.Gly142=)
Yg.12735615T>ACA414983850USP9Yc.661T>A (p.Trp221Arg)
n.673T>A
c.427T>A (p.Trp143Arg)
Yg.12735615T>CCA414983855USP9Yc.661T>C (p.Trp221Arg)
n.673T>C
c.427T>C (p.Trp143Arg)
Yg.12735615T>GCA414983856USP9Yc.661T>G (p.Trp221Gly)
n.673T>G
c.427T>G (p.Trp143Gly)
Yg.12735616G>ACA414983857USP9Yc.662G>A (p.Trp221Ter)
n.674G>A
c.428G>A (p.Trp143Ter)
Yg.12735616G>CCA414983858USP9Yc.662G>C (p.Trp221Ser)
n.674G>C
c.428G>C (p.Trp143Ser)
Yg.12735616G>TCA414983862USP9Yc.662G>T (p.Trp221Leu)
n.674G>T
c.428G>T (p.Trp143Leu)
COSMIC
Yg.12735617G>ACA414983866USP9Yc.663G>A (p.Trp221Ter)
n.675G>A
c.429G>A (p.Trp143Ter)
Yg.12735617G>CCA414983870USP9Yc.663G>C (p.Trp221Cys)
n.675G>C
c.429G>C (p.Trp143Cys)
Yg.12735617G>TCA414983877USP9Yc.663G>T (p.Trp221Cys)
n.675G>T
c.429G>T (p.Trp143Cys)
Yg.12735618C>ACA414983889USP9Yc.664C>A (p.Leu222Ile)
n.676C>A
c.430C>A (p.Leu144Ile)
dbSNP gnomAD v2
Yg.12735618C=CA2470555339USP9Yc.664C= (p.Leu222=)
n.676C=
c.430C= (p.Leu144=)
Yg.12735618C>GCA414983884USP9Yc.664C>G (p.Leu222Val)
n.676C>G
c.430C>G (p.Leu144Val)
Yg.12735618C>TCA519864730USP9Yc.664C>T (p.Leu222=)
n.676C>T
c.430C>T (p.Leu144=)
Yg.12735619delCA2579747615USP9Yc.665del (p.Leu222GlnfsTer11)
n.677del
c.431del (p.Leu144GlnfsTer11)
Yg.12735619T>ACA414983893USP9Yc.665T>A (p.Leu222Gln)
n.677T>A
c.431T>A (p.Leu144Gln)
Yg.12735619T>CCA414983895USP9Yc.665T>C (p.Leu222Pro)
n.677T>C
c.431T>C (p.Leu144Pro)
Yg.12735619T>GCA414983897USP9Yc.665T>G (p.Leu222Arg)
n.677T>G
c.431T>G (p.Leu144Arg)
Yg.12735620A>CCA519864757USP9Yc.666A>C (p.Leu222=)
n.678A>C
c.432A>C (p.Leu144=)
Yg.12735620A>GCA519864763USP9Yc.666A>G (p.Leu222=)
n.678A>G
c.432A>G (p.Leu144=)
Yg.12735620A>TCA519864767USP9Yc.666A>T (p.Leu222=)
n.678A>T
c.432A>T (p.Leu144=)
Yg.12735621G>ACA414983899USP9Yc.667G>A (p.Val223Met)
n.679G>A
c.433G>A (p.Val145Met)
Yg.12735621G>CCA414983901USP9Yc.667G>C (p.Val223Leu)
n.679G>C
c.433G>C (p.Val145Leu)
Yg.12735621G>TCA414983904USP9Yc.667G>T (p.Val223Leu)
n.679G>T
c.433G>T (p.Val145Leu)
Yg.12735622T>ACA414983911USP9Yc.668T>A (p.Val223Glu)
n.680T>A
c.434T>A (p.Val145Glu)
Yg.12735622T>CCA414983914USP9Yc.668T>C (p.Val223Ala)
n.680T>C
c.434T>C (p.Val145Ala)
Yg.12735622T>GCA414983919USP9Yc.668T>G (p.Val223Gly)
n.680T>G
c.434T>G (p.Val145Gly)
Yg.12735623G>ACA519864795USP9Yc.669G>A (p.Val223=)
n.681G>A
c.435G>A (p.Val145=)
Yg.12735623G>CCA519864799USP9Yc.669G>C (p.Val223=)
n.681G>C
c.435G>C (p.Val145=)
Yg.12735623G>TCA519864792USP9Yc.669G>T (p.Val223=)
n.681G>T
c.435G>T (p.Val145=)
Yg.12735624G>ACA414983922USP9Yc.670G>A (p.Asp224Asn)
n.682G>A
c.436G>A (p.Asp146Asn)
Yg.12735624G>CCA414983926USP9Yc.670G>C (p.Asp224His)
n.682G>C
c.436G>C (p.Asp146His)
Yg.12735624G>TCA414983928USP9Yc.670G>T (p.Asp224Tyr)
n.682G>T
c.436G>T (p.Asp146Tyr)
Yg.12735625A>CCA414983938USP9Yc.671A>C (p.Asp224Ala)
n.683A>C
c.437A>C (p.Asp146Ala)
Yg.12735625A>GCA414983930USP9Yc.671A>G (p.Asp224Gly)
n.683A>G
c.437A>G (p.Asp146Gly)
Yg.12735625A>TCA414983933USP9Yc.671A>T (p.Asp224Val)
n.683A>T
c.437A>T (p.Asp146Val)
Yg.12735626T>ACA414983939USP9Yc.672T>A (p.Asp224Glu)
n.684T>A
c.438T>A (p.Asp146Glu)
Yg.12735626T>CCA519864828USP9Yc.672T>C (p.Asp224=)
n.684T>C
c.438T>C (p.Asp146=)
Yg.12735626T>GCA414983940USP9Yc.672T>G (p.Asp224Glu)
n.684T>G
c.438T>G (p.Asp146Glu)
Yg.12735627C>ACA414983941USP9Yc.673C>A (p.Leu225Ile)
n.685C>A
c.439C>A (p.Leu147Ile)
Yg.12735627C>GCA414983948USP9Yc.673C>G (p.Leu225Val)
n.685C>G
c.439C>G (p.Leu147Val)
Yg.12735627C>TCA414983943USP9Yc.673C>T (p.Leu225Phe)
n.685C>T
c.439C>T (p.Leu147Phe)
Yg.12735628T>ACA414983952USP9Yc.674T>A (p.Leu225His)
n.686T>A
c.440T>A (p.Leu147His)
Yg.12735628T>CCA414983968USP9Yc.674T>C (p.Leu225Pro)
n.686T>C
c.440T>C (p.Leu147Pro)
Yg.12735628T>GCA414983955USP9Yc.674T>G (p.Leu225Arg)
n.686T>G
c.440T>G (p.Leu147Arg)
Yg.12735629C>ACA519864855USP9Yc.675C>A (p.Leu225=)
n.687C>A
c.441C>A (p.Leu147=)
Yg.12735629C>GCA519864858USP9Yc.675C>G (p.Leu225=)
n.687C>G
c.441C>G (p.Leu147=)
Yg.12735629C>TCA519864861USP9Yc.675C>T (p.Leu225=)
n.687C>T
c.441C>T (p.Leu147=)
Yg.12735630A>CCA414983974USP9Yc.676A>C (p.Ile226Leu)
n.688A>C
c.442A>C (p.Ile148Leu)
Yg.12735630A>GCA414983977USP9Yc.676A>G (p.Ile226Val)
n.688A>G
c.442A>G (p.Ile148Val)
Yg.12735630A>TCA414983982USP9Yc.676A>T (p.Ile226Phe)
n.688A>T
c.442A>T (p.Ile148Phe)
COSMIC
Yg.12735631T>ACA414983987USP9Yc.677T>A (p.Ile226Asn)
n.689T>A
c.443T>A (p.Ile148Asn)
Yg.12735631T>CCA414983990USP9Yc.677T>C (p.Ile226Thr)
n.689T>C
c.443T>C (p.Ile148Thr)
Yg.12735631T>GCA414983994USP9Yc.677T>G (p.Ile226Ser)
n.689T>G
c.443T>G (p.Ile148Ser)
Yg.12735632C>ACA519864889USP9Yc.678C>A (p.Ile226=)
n.690C>A
c.444C>A (p.Ile148=)
Yg.12735632C>GCA414983998USP9Yc.678C>G (p.Ile226Met)
n.690C>G
c.444C>G (p.Ile148Met)
Yg.12735632C>TCA519864895USP9Yc.678C>T (p.Ile226=)
n.690C>T
c.444C>T (p.Ile148=)
Yg.12735633A>CCA414984003USP9Yc.679A>C (p.Asn227His)
n.691A>C
c.445A>C (p.Asn149His)
Yg.12735633A>GCA414984011USP9Yc.679A>G (p.Asn227Asp)
n.691A>G
c.445A>G (p.Asn149Asp)
Yg.12735633A>TCA414984014USP9Yc.679A>T (p.Asn227Tyr)
n.691A>T
c.445A>T (p.Asn149Tyr)
Yg.12735634A>CCA414984020USP9Yc.680A>C (p.Asn227Thr)
n.692A>C
c.446A>C (p.Asn149Thr)
Yg.12735634A>GCA414984018USP9Yc.680A>G (p.Asn227Ser)
n.692A>G
c.446A>G (p.Asn149Ser)
Yg.12735634A>TCA414984017USP9Yc.680A>T (p.Asn227Ile)
n.692A>T
c.446A>T (p.Asn149Ile)
Yg.12735635T>ACA414984024USP9Yc.681T>A (p.Asn227Lys)
n.693T>A
c.447T>A (p.Asn149Lys)
Yg.12735635T>CCA519864924USP9Yc.681T>C (p.Asn227=)
n.693T>C
c.447T>C (p.Asn149=)
Yg.12735635T>GCA414984028USP9Yc.681T>G (p.Asn227Lys)
n.693T>G
c.447T>G (p.Asn149Lys)
Yg.12735636A>CCA414984034USP9Yc.682A>C (p.Lys228Gln)
n.694A>C
c.448A>C (p.Lys150Gln)
Yg.12735636A>GCA414984037USP9Yc.682A>G (p.Lys228Glu)
n.694A>G
c.448A>G (p.Lys150Glu)
Yg.12735636A>TCA414984063USP9Yc.682A>T (p.Lys228Ter)
n.694A>T
c.448A>T (p.Lys150Ter)
Yg.12735637A>CCA414984066USP9Yc.683A>C (p.Lys228Thr)
n.695A>C
c.449A>C (p.Lys150Thr)
Yg.12735637A>GCA414984069USP9Yc.683A>G (p.Lys228Arg)
n.695A>G
c.449A>G (p.Lys150Arg)
Yg.12735637A>TCA414984074USP9Yc.683A>T (p.Lys228Ile)
n.695A>T
c.449A>T (p.Lys150Ile)
Yg.12735638A>CCA414984078USP9Yc.684A>C (p.Lys228Asn)
n.696A>C
c.450A>C (p.Lys150Asn)
Yg.12735638A>GCA519864952USP9Yc.684A>G (p.Lys228=)
n.696A>G
c.450A>G (p.Lys150=)
Yg.12735638A>TCA414984081USP9Yc.684A>T (p.Lys228Asn)
n.696A>T
c.450A>T (p.Lys150Asn)
Yg.12735639T>ACA414984116USP9Yc.685T>A (p.Phe229Ile)
n.697T>A
c.451T>A (p.Phe151Ile)
Yg.12735639T>CCA414984111USP9Yc.685T>C (p.Phe229Leu)
n.697T>C
c.451T>C (p.Phe151Leu)
Yg.12735639T>GCA414984108USP9Yc.685T>G (p.Phe229Val)
n.697T>G
c.451T>G (p.Phe151Val)
Yg.12735640T>ACA414984124USP9Yc.686T>A (p.Phe229Tyr)
n.698T>A
c.452T>A (p.Phe151Tyr)
Yg.12735640T>CCA414984133USP9Yc.686T>C (p.Phe229Ser)
n.698T>C
c.452T>C (p.Phe151Ser)
Yg.12735640T>GCA414984136USP9Yc.686T>G (p.Phe229Cys)
n.698T>G
c.452T>G (p.Phe151Cys)
Yg.12735641T>ACA414984143USP9Yc.687T>A (p.Phe229Leu)
n.699T>A
c.453T>A (p.Phe151Leu)
Yg.12735641T>CCA519864987USP9Yc.687T>C (p.Phe229=)
n.699T>C
c.453T>C (p.Phe151=)
Yg.12735641T>GCA414984147USP9Yc.687T>G (p.Phe229Leu)
n.699T>G
c.453T>G (p.Phe151Leu)
Yg.12735642G>ACA414984151USP9Yc.688G>A (p.Gly230Ser)
n.700G>A
c.454G>A (p.Gly152Ser)
Yg.12735642G>CCA414984157USP9Yc.688G>C (p.Gly230Arg)
n.700G>C
c.454G>C (p.Gly152Arg)
Yg.12735642G>TCA414984160USP9Yc.688G>T (p.Gly230Cys)
n.700G>T
c.454G>T (p.Gly152Cys)
Yg.12735643G>ACA414984168USP9Yc.689G>A (p.Gly230Asp)
n.701G>A
c.455G>A (p.Gly152Asp)
Yg.12735643G>CCA414984179USP9Yc.689G>C (p.Gly230Ala)
n.701G>C
c.455G>C (p.Gly152Ala)
Yg.12735643G>TCA414984183USP9Yc.689G>T (p.Gly230Val)
n.701G>T
c.455G>T (p.Gly152Val)
Yg.12735644C>ACA519865018USP9Yc.690C>A (p.Gly230=)
n.702C>A
c.456C>A (p.Gly152=)
Yg.12735644C>GCA519865026USP9Yc.690C>G (p.Gly230=)
n.702C>G
c.456C>G (p.Gly152=)
Yg.12735644C>TCA519865021USP9Yc.690C>T (p.Gly230=)
n.702C>T
c.456C>T (p.Gly152=)
Yg.12735645A>CCA414984190USP9Yc.691A>C (p.Thr231Pro)
n.703A>C
c.457A>C (p.Thr153Pro)
Yg.12735645A>GCA414984186USP9Yc.691A>G (p.Thr231Ala)
n.703A>G
c.457A>G (p.Thr153Ala)
Yg.12735645A>TCA414984188USP9Yc.691A>T (p.Thr231Ser)
n.703A>T
c.457A>T (p.Thr153Ser)
Yg.12735646C>ACA414984194USP9Yc.692C>A (p.Thr231Lys)
n.704C>A
c.458C>A (p.Thr153Lys)
Yg.12735646C>GCA414984198USP9Yc.692C>G (p.Thr231Arg)
n.704C>G
c.458C>G (p.Thr153Arg)
Yg.12735646C>TCA414984202USP9Yc.692C>T (p.Thr231Ile)
n.704C>T
c.458C>T (p.Thr153Ile)
Yg.12735647A>CCA519865058USP9Yc.693A>C (p.Thr231=)
n.705A>C
c.459A>C (p.Thr153=)
Yg.12735647A>GCA519865061USP9Yc.693A>G (p.Thr231=)
n.705A>G
c.459A>G (p.Thr153=)
Yg.12735647A>TCA519865066USP9Yc.693A>T (p.Thr231=)
n.705A>T
c.459A>T (p.Thr153=)
Yg.12735648T>ACA414984206USP9Yc.694T>A (p.Leu232Ile)
n.706T>A
c.460T>A (p.Leu154Ile)
Yg.12735648T>CCA519865074USP9Yc.694T>C (p.Leu232=)
n.706T>C
c.460T>C (p.Leu154=)
Yg.12735648T>GCA414984212USP9Yc.694T>G (p.Leu232Val)
n.706T>G
c.460T>G (p.Leu154Val)
Yg.12735649T>ACA414984216USP9Yc.695T>A (p.Leu232Ter)
n.707T>A
c.461T>A (p.Leu154Ter)
Yg.12735649T>CCA414984219USP9Yc.695T>C (p.Leu232Ser)
n.707T>C
c.461T>C (p.Leu154Ser)
Yg.12735649T>GCA414984224USP9Yc.695T>G (p.Leu232Ter)
n.707T>G
c.461T>G (p.Leu154Ter)
Yg.12735650A>CCA414984229USP9Yc.696A>C (p.Leu232Phe)
n.708A>C
c.462A>C (p.Leu154Phe)
Yg.12735650A>GCA519865097USP9Yc.696A>G (p.Leu232=)
n.708A>G
c.462A>G (p.Leu154=)
Yg.12735650A>TCA414984231USP9Yc.696A>T (p.Leu232Phe)
n.708A>T
c.462A>T (p.Leu154Phe)
Yg.12735651A>CCA414984236USP9Yc.697A>C (p.Asn233His)
n.709A>C
c.463A>C (p.Asn155His)
Yg.12735651A>GCA414984235USP9Yc.697A>G (p.Asn233Asp)
n.709A>G
c.463A>G (p.Asn155Asp)
Yg.12735651A>TCA414984234USP9Yc.697A>T (p.Asn233Tyr)
n.709A>T
c.463A>T (p.Asn155Tyr)
Yg.12735652A=CA2470555340USP9Yc.698A= (p.Asn233=)
n.710A=
c.464A= (p.Asn155=)
Yg.12735652A>CCA414984238USP9Yc.698A>C (p.Asn233Thr)
n.710A>C
c.464A>C (p.Asn155Thr)
Yg.12735652A>GCA10573058USP9Yc.698A>G (p.Asn233Ser)
n.710A>G
c.464A>G (p.Asn155Ser)
dbSNP ExAC gnomAD v2
Yg.12735652A>TCA414984242USP9Yc.698A>T (p.Asn233Ile)
n.710A>T
c.464A>T (p.Asn155Ile)
Yg.12735653T>ACA414984245USP9Yc.699T>A (p.Asn233Lys)
n.711T>A
c.465T>A (p.Asn155Lys)
Yg.12735653T>CCA519865122USP9Yc.699T>C (p.Asn233=)
n.711T>C
c.465T>C (p.Asn155=)
Yg.12735653T>GCA414984246USP9Yc.699T>G (p.Asn233Lys)
n.711T>G
c.465T>G (p.Asn155Lys)
Yg.12735654G>ACA414984259USP9Yc.700G>A (p.Gly234Arg)
n.712G>A
c.466G>A (p.Gly156Arg)
Yg.12735654G>CCA414984250USP9Yc.700G>C (p.Gly234Arg)
n.712G>C
c.466G>C (p.Gly156Arg)
Yg.12735654G>TCA414984249USP9Yc.700G>T (p.Gly234Trp)
n.712G>T
c.466G>T (p.Gly156Trp)
Yg.12735655G>ACA414984260USP9Yc.701G>A (p.Gly234Glu)
n.713G>A
c.467G>A (p.Gly156Glu)
Yg.12735655G>CCA414984261USP9Yc.701G>C (p.Gly234Ala)
n.713G>C
c.467G>C (p.Gly156Ala)
Yg.12735655G>TCA414984264USP9Yc.701G>T (p.Gly234Val)
n.713G>T
c.467G>T (p.Gly156Val)
Yg.12735656G>ACA519865147USP9Yc.702G>A (p.Gly234=)
n.714G>A
c.468G>A (p.Gly156=)
Yg.12735656G>CCA519865152USP9Yc.702G>C (p.Gly234=)
n.714G>C
c.468G>C (p.Gly156=)
Yg.12735656G>TCA519865149USP9Yc.702G>T (p.Gly234=)
n.714G>T
c.468G>T (p.Gly156=)
Yg.12735657T>ACA414984268USP9Yc.703T>A (p.Phe235Ile)
n.715T>A
c.469T>A (p.Phe157Ile)
Yg.12735657T>CCA414984274USP9Yc.703T>C (p.Phe235Leu)
n.715T>C
c.469T>C (p.Phe157Leu)
Yg.12735657T>GCA414984280USP9Yc.703T>G (p.Phe235Val)
n.715T>G
c.469T>G (p.Phe157Val)
Yg.12735658T>ACA414984285USP9Yc.704T>A (p.Phe235Tyr)
n.716T>A
c.470T>A (p.Phe157Tyr)
Yg.12735658T>CCA414984294USP9Yc.704T>C (p.Phe235Ser)
n.716T>C
c.470T>C (p.Phe157Ser)
Yg.12735658T>GCA414984291USP9Yc.704T>G (p.Phe235Cys)
n.716T>G
c.470T>G (p.Phe157Cys)
Yg.12735659C>ACA414984296USP9Yc.705C>A (p.Phe235Leu)
n.717C>A
c.471C>A (p.Phe157Leu)
Yg.12735659C>GCA414984300USP9Yc.705C>G (p.Phe235Leu)
n.717C>G
c.471C>G (p.Phe157Leu)
Yg.12735659C>TCA519865170USP9Yc.705C>T (p.Phe235=)
n.717C>T
c.471C>T (p.Phe157=)
Yg.12735660C>ACA414984305USP9Yc.706C>A (p.Gln236Lys)
n.718C>A
c.472C>A (p.Gln158Lys)
Yg.12735660C>GCA414984307USP9Yc.706C>G (p.Gln236Glu)
n.718C>G
c.472C>G (p.Gln158Glu)
Yg.12735660C>TCA414984311USP9Yc.706C>T (p.Gln236Ter)
n.718C>T
c.472C>T (p.Gln158Ter)
Yg.12735661A>CCA414984314USP9Yc.707A>C (p.Gln236Pro)
n.719A>C
c.473A>C (p.Gln158Pro)
Yg.12735661A>GCA414984321USP9Yc.707A>G (p.Gln236Arg)
n.719A>G
c.473A>G (p.Gln158Arg)
Yg.12735661A>TCA414984323USP9Yc.707A>T (p.Gln236Leu)
n.719A>T
c.473A>T (p.Gln158Leu)
Yg.12735662G>ACA519865189USP9Yc.708G>A (p.Gln236=)
n.720G>A
c.474G>A (p.Gln158=)
Yg.12735662G>CCA414984328USP9Yc.708G>C (p.Gln236His)
n.720G>C
c.474G>C (p.Gln158His)
Yg.12735662G>TCA414984332USP9Yc.708G>T (p.Gln236His)
n.720G>T
c.474G>T (p.Gln158His)
Yg.12735663A>CCA414984337USP9Yc.709A>C (p.Ile237Leu)
n.721A>C
c.475A>C (p.Ile159Leu)
Yg.12735663A>GCA414984341USP9Yc.709A>G (p.Ile237Val)
n.721A>G
c.475A>G (p.Ile159Val)
Yg.12735663A>TCA414984338USP9Yc.709A>T (p.Ile237Phe)
n.721A>T
c.475A>T (p.Ile159Phe)
Yg.12735664T>ACA414984347USP9Yc.710T>A (p.Ile237Asn)
n.722T>A
c.476T>A (p.Ile159Asn)
Yg.12735664T>CCA414984356USP9Yc.710T>C (p.Ile237Thr)
n.722T>C
c.476T>C (p.Ile159Thr)
Yg.12735664T>GCA414984360USP9Yc.710T>G (p.Ile237Ser)
n.722T>G
c.476T>G (p.Ile159Ser)
Yg.12735665T>ACA519865266USP9Yc.711T>A (p.Ile237=)
n.723T>A
c.477T>A (p.Ile159=)
Yg.12735665T>CCA519865270USP9Yc.711T>C (p.Ile237=)
n.723T>C
c.477T>C (p.Ile159=)
Yg.12735665T>GCA414984364USP9Yc.711T>G (p.Ile237Met)
n.723T>G
c.477T>G (p.Ile159Met)
Yg.12735666T>ACA414984365USP9Yc.712T>A (p.Leu238Met)
n.724T>A
c.478T>A (p.Leu160Met)
Yg.12735666T>CCA519865283USP9Yc.712T>C (p.Leu238=)
n.724T>C
c.478T>C (p.Leu160=)
Yg.12735666T>GCA414984366USP9Yc.712T>G (p.Leu238Val)
n.724T>G
c.478T>G (p.Leu160Val)
Yg.12735667T>ACA414984370USP9Yc.713T>A (p.Leu238Ter)
n.725T>A
c.479T>A (p.Leu160Ter)
Yg.12735667T>CCA414984375USP9Yc.713T>C (p.Leu238Ser)
n.725T>C
c.479T>C (p.Leu160Ser)
Yg.12735667T>GCA414984388USP9Yc.713T>G (p.Leu238Trp)
n.725T>G
c.479T>G (p.Leu160Trp)
Yg.12735668G>ACA519865296USP9Yc.714G>A (p.Leu238=)
n.726G>A
c.480G>A (p.Leu160=)
Yg.12735668G>CCA414984391USP9Yc.714G>C (p.Leu238Phe)
n.726G>C
c.480G>C (p.Leu160Phe)
Yg.12735668G>TCA414984394USP9Yc.714G>T (p.Leu238Phe)
n.726G>T
c.480G>T (p.Leu160Phe)
Yg.12735669C>ACA414984408USP9Yc.715C>A (p.His239Asn)
n.727C>A
c.481C>A (p.His161Asn)
Yg.12735669C=CA2470555341USP9Yc.715C= (p.His239=)
n.727C=
c.481C= (p.His161=)
Yg.12735669C>GCA414984402USP9Yc.715C>G (p.His239Asp)
n.727C>G
c.481C>G (p.His161Asp)
Yg.12735669C>TCA10573059USP9Yc.715C>T (p.His239Tyr)
n.727C>T
c.481C>T (p.His161Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12735670A>CCA414984411USP9Yc.716A>C (p.His239Pro)
n.728A>C
c.482A>C (p.His161Pro)
Yg.12735670A>GCA414984413USP9Yc.716A>G (p.His239Arg)
n.728A>G
c.482A>G (p.His161Arg)
Yg.12735670A>TCA414984415USP9Yc.716A>T (p.His239Leu)
n.728A>T
c.482A>T (p.His161Leu)
Yg.12735671T>ACA414984416USP9Yc.717T>A (p.His239Gln)
n.729T>A
c.483T>A (p.His161Gln)
Yg.12735671T>CCA519865332USP9Yc.717T>C (p.His239=)
n.729T>C
c.483T>C (p.His161=)
Yg.12735671T>GCA414984417USP9Yc.717T>G (p.His239Gln)
n.729T>G
c.483T>G (p.His161Gln)
Yg.12735672G>ACA414984420USP9Yc.718G>A (p.Asp240Asn)
n.730G>A
c.484G>A (p.Asp162Asn)
Yg.12735672G>CCA414984423USP9Yc.718G>C (p.Asp240His)
n.730G>C
c.484G>C (p.Asp162His)
Yg.12735672G>TCA414984425USP9Yc.718G>T (p.Asp240Tyr)
n.730G>T
c.484G>T (p.Asp162Tyr)
Yg.12735673A>CCA414984429USP9Yc.719A>C (p.Asp240Ala)
n.731A>C
c.485A>C (p.Asp162Ala)
Yg.12735673A>GCA414984434USP9Yc.719A>G (p.Asp240Gly)
n.731A>G
c.485A>G (p.Asp162Gly)
Yg.12735673A>TCA414984446USP9Yc.719A>T (p.Asp240Val)
n.731A>T
c.485A>T (p.Asp162Val)
Yg.12735674T>ACA414984453USP9Yc.720T>A (p.Asp240Glu)
n.732T>A
c.486T>A (p.Asp162Glu)
Yg.12735674T>CCA519865350USP9Yc.720T>C (p.Asp240=)
n.732T>C
c.486T>C (p.Asp162=)
Yg.12735674T>GCA414984449USP9Yc.720T>G (p.Asp240Glu)
n.732T>G
c.486T>G (p.Asp162Glu)
Yg.12735675C>ACA414984460USP9Yc.721C>A (p.Arg241Ser)
n.733C>A
c.487C>A (p.Arg163Ser)
Yg.12735675C>GCA414984465USP9Yc.721C>G (p.Arg241Gly)
n.733C>G
c.487C>G (p.Arg163Gly)
Yg.12735675C>TCA414984463USP9Yc.721C>T (p.Arg241Cys)
n.733C>T
c.487C>T (p.Arg163Cys)
Yg.12735676delCA2766240752USP9Yc.722del (p.Arg241LeufsTer8)
n.734del
c.488del (p.Arg163LeufsTer8)
Yg.12735676G>ACA10573060USP9Yc.722G>A (p.Arg241His)
n.734G>A
c.488G>A (p.Arg163His)
dbSNP ExAC gnomAD v2
Yg.12735676G>CCA414984470USP9Yc.722G>C (p.Arg241Pro)
n.734G>C
c.488G>C (p.Arg163Pro)
Yg.12735676G=CA2470555342USP9Yc.722G= (p.Arg241=)
n.734G=
c.488G= (p.Arg163=)
Yg.12735676G>TCA414984473USP9Yc.722G>T (p.Arg241Leu)
n.734G>T
c.488G>T (p.Arg163Leu)
Yg.12735677T>ACA519865392USP9Yc.723T>A (p.Arg241=)
n.735T>A
c.489T>A (p.Arg163=)
Yg.12735677T>CCA519865391USP9Yc.723T>C (p.Arg241=)
n.735T>C
c.489T>C (p.Arg163=)
Yg.12735677T>GCA519865388USP9Yc.723T>G (p.Arg241=)
n.735T>G
c.489T>G (p.Arg163=)
Yg.12735683dupCA1139600272USP9Yc.729dup (p.Asn244Ter)
n.741dup
c.495dup (p.Asn166Ter)
Yg.12735683delCA519865389USP9Yc.729del (p.Phe243LeufsTer6)
n.741del
c.495del (p.Phe165LeufsTer6)
COSMIC
Yg.12735678T>ACA414984480USP9Yc.724T>A (p.Phe242Ile)
n.736T>A
c.490T>A (p.Phe164Ile)
Yg.12735678T>CCA414984484USP9Yc.724T>C (p.Phe242Leu)
n.736T>C
c.490T>C (p.Phe164Leu)
Yg.12735678T>GCA414984489USP9Yc.724T>G (p.Phe242Val)
n.736T>G
c.490T>G (p.Phe164Val)
Yg.12735679T>ACA414984497USP9Yc.725T>A (p.Phe242Tyr)
n.737T>A
c.491T>A (p.Phe164Tyr)
Yg.12735679T>CCA414984498USP9Yc.725T>C (p.Phe242Ser)
n.737T>C
c.491T>C (p.Phe164Ser)
Yg.12735679T>GCA414984511USP9Yc.725T>G (p.Phe242Cys)
n.737T>G
c.491T>G (p.Phe164Cys)
Yg.12735680T>ACA414984512USP9Yc.726T>A (p.Phe242Leu)
n.738T>A
c.492T>A (p.Phe164Leu)
Yg.12735680T>CCA519865421USP9Yc.726T>C (p.Phe242=)
n.738T>C
c.492T>C (p.Phe164=)
Yg.12735680T>GCA414984513USP9Yc.726T>G (p.Phe242Leu)
n.738T>G
c.492T>G (p.Phe164Leu)
Yg.12735681T>ACA414984532USP9Yc.727T>A (p.Phe243Ile)
n.739T>A
c.493T>A (p.Phe165Ile)
Yg.12735681T>CCA414984516USP9Yc.727T>C (p.Phe243Leu)
n.739T>C
c.493T>C (p.Phe165Leu)
Yg.12735681T>GCA414984526USP9Yc.727T>G (p.Phe243Val)
n.739T>G
c.493T>G (p.Phe165Val)
Yg.12735682T>ACA414984538USP9Yc.728T>A (p.Phe243Tyr)
n.740T>A
c.494T>A (p.Phe165Tyr)
Yg.12735682T>CCA414984541USP9Yc.728T>C (p.Phe243Ser)
n.740T>C
c.494T>C (p.Phe165Ser)
Yg.12735682T>GCA414984546USP9Yc.728T>G (p.Phe243Cys)
n.740T>G
c.494T>G (p.Phe165Cys)
Yg.12735683T>ACA414984549USP9Yc.729T>A (p.Phe243Leu)
n.741T>A
c.495T>A (p.Phe165Leu)
Yg.12735683T>CCA519865470USP9Yc.729T>C (p.Phe243=)
n.741T>C
c.495T>C (p.Phe165=)
Yg.12735683T>GCA414984550USP9Yc.729T>G (p.Phe243Leu)
n.741T>G
c.495T>G (p.Phe165Leu)
Yg.12735684A=CA2470555343USP9Yc.730A= (p.Asn244=)
n.742A=
c.496A= (p.Asn166=)
Yg.12735684A>CCA414984555USP9Yc.730A>C (p.Asn244His)
n.742A>C
c.496A>C (p.Asn166His)
Yg.12735684A>GCA10573061USP9Yc.730A>G (p.Asn244Asp)
n.742A>G
c.496A>G (p.Asn166Asp)
dbSNP ExAC gnomAD v2
Yg.12735684A>TCA414984556USP9Yc.730A>T (p.Asn244Tyr)
n.742A>T
c.496A>T (p.Asn166Tyr)
Yg.12735685A>CCA414984558USP9Yc.731A>C (p.Asn244Thr)
n.743A>C
c.497A>C (p.Asn166Thr)
Yg.12735685A>GCA414984561USP9Yc.731A>G (p.Asn244Ser)
n.743A>G
c.497A>G (p.Asn166Ser)
Yg.12735685A>TCA414984564USP9Yc.731A>T (p.Asn244Ile)
n.743A>T
c.497A>T (p.Asn166Ile)
Yg.12735686T>ACA414984579USP9Yc.732T>A (p.Asn244Lys)
n.744T>A
c.498T>A (p.Asn166Lys)
Yg.12735686T>CCA519865498USP9Yc.732T>C (p.Asn244=)
n.744T>C
c.498T>C (p.Asn166=)
Yg.12735686T>GCA414984568USP9Yc.732T>G (p.Asn244Lys)
n.744T>G
c.498T>G (p.Asn166Lys)
Yg.12735687G>ACA414984584USP9Yc.733G>A (p.Gly245Arg)
n.745G>A
c.499G>A (p.Gly167Arg)
Yg.12735687G>CCA414984585USP9Yc.733G>C (p.Gly245Arg)
n.745G>C
c.499G>C (p.Gly167Arg)
Yg.12735687G>TCA414984587USP9Yc.733G>T (p.Gly245Ter)
n.745G>T
c.499G>T (p.Gly167Ter)
Yg.12735688G>ACA414984590USP9Yc.734G>A (p.Gly245Glu)
n.746G>A
c.500G>A (p.Gly167Glu)
Yg.12735688G>CCA414984598USP9Yc.734G>C (p.Gly245Ala)
n.746G>C
c.500G>C (p.Gly167Ala)
Yg.12735688G>TCA414984601USP9Yc.734G>T (p.Gly245Val)
n.746G>T
c.500G>T (p.Gly167Val)
Yg.12735689A>CCA519865524USP9Yc.735A>C (p.Gly245=)
n.747A>C
c.501A>C (p.Gly167=)
Yg.12735689A>GCA519865529USP9Yc.735A>G (p.Gly245=)
n.747A>G
c.501A>G (p.Gly167=)
Yg.12735689A>TCA519865530USP9Yc.735A>T (p.Gly245=)
n.747A>T
c.501A>T (p.Gly167=)
Yg.12735690T>ACA414984608USP9Yc.736T>A (p.Ser246Thr)
n.748T>A
c.502T>A (p.Ser168Thr)
Yg.12735690T>CCA414984614USP9Yc.736T>C (p.Ser246Pro)
n.748T>C
c.502T>C (p.Ser168Pro)
Yg.12735690T>GCA414984618USP9Yc.736T>G (p.Ser246Ala)
n.748T>G
c.502T>G (p.Ser168Ala)
Yg.12735691C>ACA414984620USP9Yc.737C>A (p.Ser246Ter)
n.749C>A
c.503C>A (p.Ser168Ter)
Yg.12735691C>GCA414984622USP9Yc.737C>G (p.Ser246Ter)
n.749C>G
c.503C>G (p.Ser168Ter)
Yg.12735691C>TCA414984628USP9Yc.737C>T (p.Ser246Leu)
n.749C>T
c.503C>T (p.Ser168Leu)
Yg.12735692A>CCA519865550USP9Yc.738A>C (p.Ser246=)
n.750A>C
c.504A>C (p.Ser168=)
Yg.12735692A>GCA519865554USP9Yc.738A>G (p.Ser246=)
n.750A>G
c.504A>G (p.Ser168=)
Yg.12735692A>TCA519865558USP9Yc.738A>T (p.Ser246=)
n.750A>T
c.504A>T (p.Ser168=)
Yg.12735693G>ACA414984641USP9Yc.739G>A (p.Ala247Thr)
n.751G>A
c.505G>A (p.Ala169Thr)
Yg.12735693G>CCA414984639USP9Yc.739G>C (p.Ala247Pro)
n.751G>C
c.505G>C (p.Ala169Pro)
Yg.12735693G>TCA414984636USP9Yc.739G>T (p.Ala247Ser)
n.751G>T
c.505G>T (p.Ala169Ser)
Yg.12735694C>ACA414984645USP9Yc.740C>A (p.Ala247Glu)
n.752C>A
c.506C>A (p.Ala169Glu)
Yg.12735694C>GCA414984650USP9Yc.740C>G (p.Ala247Gly)
n.752C>G
c.506C>G (p.Ala169Gly)
Yg.12735694C>TCA414984653USP9Yc.740C>T (p.Ala247Val)
n.752C>T
c.506C>T (p.Ala169Val)
Yg.12735695A>CCA519865585USP9Yc.741A>C (p.Ala247=)
n.753A>C
c.507A>C (p.Ala169=)
Yg.12735695A>GCA519865589USP9Yc.741A>G (p.Ala247=)
n.753A>G
c.507A>G (p.Ala169=)
Yg.12735695A>TCA519865591USP9Yc.741A>T (p.Ala247=)
n.753A>T
c.507A>T (p.Ala169=)

Number of alleles fetched