Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36246297A=CA1846320896CLTA,GNEc.443T= (p.Leu148=)
c.173T= (p.Leu58=)
c.350T= (p.Leu117=)
c.486-16901A= (n.486-16901A=)
c.335T= (p.Leu112=)
9g.36246297A>CCA373419285CLTA,GNEc.443T>G (p.Leu148Arg)
c.173T>G (p.Leu58Arg)
c.350T>G (p.Leu117Arg)
c.486-16901A>C (n.486-16901A>C)
c.335T>G (p.Leu112Arg)
9g.36246297A>GCA373419286CLTA,GNEc.443T>C (p.Leu148Pro)
c.173T>C (p.Leu58Pro)
c.350T>C (p.Leu117Pro)
c.486-16901A>G (n.486-16901A>G)
c.335T>C (p.Leu112Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246297A>TCA373419287CLTA,GNEc.443T>A (p.Leu148Gln)
c.173T>A (p.Leu58Gln)
c.350T>A (p.Leu117Gln)
c.486-16901A>T (n.486-16901A>T)
c.335T>A (p.Leu112Gln)
9g.36246298G>ACA464619865CLTA,GNEc.442C>T (p.Leu148=)
c.172C>T (p.Leu58=)
c.349C>T (p.Leu117=)
c.486-16900G>A (n.486-16900G>A)
c.334C>T (p.Leu112=)
 gnomAD v4
9g.36246298G>CCA373419288CLTA,GNEc.442C>G (p.Leu148Val)
c.172C>G (p.Leu58Val)
c.349C>G (p.Leu117Val)
c.486-16900G>C (n.486-16900G>C)
c.334C>G (p.Leu112Val)
9g.36246298G>TCA373419291CLTA,GNEc.442C>A (p.Leu148Met)
c.172C>A (p.Leu58Met)
c.349C>A (p.Leu117Met)
c.486-16900G>T (n.486-16900G>T)
c.334C>A (p.Leu112Met)
9g.36246299G>ACA464619866CLTA,GNEc.441C>T (p.Ala147=)
c.171C>T (p.Ala57=)
c.348C>T (p.Ala116=)
c.486-16899G>A (n.486-16899G>A)
c.333C>T (p.Ala111=)
 ClinVar
9g.36246299G>CCA464619868CLTA,GNEc.441C>G (p.Ala147=)
c.171C>G (p.Ala57=)
c.348C>G (p.Ala116=)
c.486-16899G>C (n.486-16899G>C)
c.333C>G (p.Ala111=)
9g.36246299G>TCA464619869CLTA,GNEc.441C>A (p.Ala147=)
c.171C>A (p.Ala57=)
c.348C>A (p.Ala116=)
c.486-16899G>T (n.486-16899G>T)
c.333C>A (p.Ala111=)
9g.36246300G>ACA373419295CLTA,GNEc.440C>T (p.Ala147Val)
c.170C>T (p.Ala57Val)
c.347C>T (p.Ala116Val)
c.486-16898G>A (n.486-16898G>A)
c.332C>T (p.Ala111Val)
9g.36246300G>CCA373419298CLTA,GNEc.440C>G (p.Ala147Gly)
c.170C>G (p.Ala57Gly)
c.347C>G (p.Ala116Gly)
c.486-16898G>C (n.486-16898G>C)
c.332C>G (p.Ala111Gly)
9g.36246300G>TCA373419301CLTA,GNEc.440C>A (p.Ala147Asp)
c.170C>A (p.Ala57Asp)
c.347C>A (p.Ala116Asp)
c.486-16898G>T (n.486-16898G>T)
c.332C>A (p.Ala111Asp)
9g.36246301C>ACA373419303CLTA,GNEc.439G>T (p.Ala147Ser)
c.169G>T (p.Ala57Ser)
c.346G>T (p.Ala116Ser)
c.486-16897C>A (n.486-16897C>A)
c.331G>T (p.Ala111Ser)
9g.36246301C>GCA373419306CLTA,GNEc.439G>C (p.Ala147Pro)
c.169G>C (p.Ala57Pro)
c.346G>C (p.Ala116Pro)
c.486-16897C>G (n.486-16897C>G)
c.331G>C (p.Ala111Pro)
9g.36246301C>TCA373419309CLTA,GNEc.439G>A (p.Ala147Thr)
c.169G>A (p.Ala57Thr)
c.346G>A (p.Ala116Thr)
c.486-16897C>T (n.486-16897C>T)
c.331G>A (p.Ala111Thr)
9g.36246302A>CCA373419312CLTA,GNEc.438T>G (p.Asp146Glu)
c.168T>G (p.Asp56Glu)
c.345T>G (p.Asp115Glu)
c.486-16896A>C (n.486-16896A>C)
c.330T>G (p.Asp110Glu)
9g.36246302A>GCA464619879CLTA,GNEc.438T>C (p.Asp146=)
c.168T>C (p.Asp56=)
c.345T>C (p.Asp115=)
c.486-16896A>G (n.486-16896A>G)
c.330T>C (p.Asp110=)
9g.36246302A>TCA373419314CLTA,GNEc.438T>A (p.Asp146Glu)
c.168T>A (p.Asp56Glu)
c.345T>A (p.Asp115Glu)
c.486-16896A>T (n.486-16896A>T)
c.330T>A (p.Asp110Glu)
9g.36246303delCA2689947825CLTA,GNEc.437del (p.Asp146ValfsTer11)
c.167del (p.Asp56ValfsTer11)
c.344del (p.Asp115ValfsTer11)
c.486-16895del (n.486-16895del)
c.329del (p.Asp110ValfsTer11)
 gnomAD v4
9g.36246303T>ACA373419319CLTA,GNEc.437A>T (p.Asp146Val)
c.167A>T (p.Asp56Val)
c.344A>T (p.Asp115Val)
c.486-16895T>A (n.486-16895T>A)
c.329A>T (p.Asp110Val)
9g.36246303T>CCA373419322CLTA,GNEc.437A>G (p.Asp146Gly)
c.167A>G (p.Asp56Gly)
c.344A>G (p.Asp115Gly)
c.486-16895T>C (n.486-16895T>C)
c.329A>G (p.Asp110Gly)
9g.36246303T>GCA373419324CLTA,GNEc.437A>C (p.Asp146Ala)
c.167A>C (p.Asp56Ala)
c.344A>C (p.Asp115Ala)
c.486-16895T>G (n.486-16895T>G)
c.329A>C (p.Asp110Ala)
9g.36246304C>ACA373419329CLTA,GNEc.436G>T (p.Asp146Tyr)
c.166G>T (p.Asp56Tyr)
c.343G>T (p.Asp115Tyr)
c.486-16894C>A (n.486-16894C>A)
c.328G>T (p.Asp110Tyr)
9g.36246304C=CA1846320900CLTA,GNEc.436G= (p.Asp146=)
c.166G= (p.Asp56=)
c.343G= (p.Asp115=)
c.486-16894C= (n.486-16894C=)
c.328G= (p.Asp110=)
9g.36246304C>GCA373419335CLTA,GNEc.436G>C (p.Asp146His)
c.166G>C (p.Asp56His)
c.343G>C (p.Asp115His)
c.486-16894C>G (n.486-16894C>G)
c.328G>C (p.Asp110His)
9g.36246304C>TCA373419331CLTA,GNEc.436G>A (p.Asp146Asn)
c.166G>A (p.Asp56Asn)
c.343G>A (p.Asp115Asn)
c.486-16894C>T (n.486-16894C>T)
c.328G>A (p.Asp110Asn)
 dbSNP gnomAD v4
9g.36246305A>CCA373419339CLTA,GNEc.435T>G (p.Phe145Leu)
c.165T>G (p.Phe55Leu)
c.342T>G (p.Phe114Leu)
c.486-16893A>C (n.486-16893A>C)
c.327T>G (p.Phe109Leu)
9g.36246305A>GCA464619883CLTA,GNEc.435T>C (p.Phe145=)
c.165T>C (p.Phe55=)
c.342T>C (p.Phe114=)
c.486-16893A>G (n.486-16893A>G)
c.327T>C (p.Phe109=)
9g.36246305A>TCA373419342CLTA,GNEc.435T>A (p.Phe145Leu)
c.165T>A (p.Phe55Leu)
c.342T>A (p.Phe114Leu)
c.486-16893A>T (n.486-16893A>T)
c.327T>A (p.Phe109Leu)
9g.36246306A=CA1846320902CLTA,GNEc.434T= (p.Phe145=)
c.164T= (p.Phe55=)
c.341T= (p.Phe114=)
c.486-16892A= (n.486-16892A=)
c.326T= (p.Phe109=)
9g.36246306A>CCA373419345CLTA,GNEc.434T>G (p.Phe145Cys)
c.164T>G (p.Phe55Cys)
c.341T>G (p.Phe114Cys)
c.486-16892A>C (n.486-16892A>C)
c.326T>G (p.Phe109Cys)
9g.36246306A>GCA373419351CLTA,GNEc.434T>C (p.Phe145Ser)
c.164T>C (p.Phe55Ser)
c.341T>C (p.Phe114Ser)
c.486-16892A>G (n.486-16892A>G)
c.326T>C (p.Phe109Ser)
 dbSNP
9g.36246306A>TCA373419348CLTA,GNEc.434T>A (p.Phe145Tyr)
c.164T>A (p.Phe55Tyr)
c.341T>A (p.Phe114Tyr)
c.486-16892A>T (n.486-16892A>T)
c.326T>A (p.Phe109Tyr)
9g.36246307A>CCA373419353CLTA,GNEc.433T>G (p.Phe145Val)
c.163T>G (p.Phe55Val)
c.340T>G (p.Phe114Val)
c.486-16891A>C (n.486-16891A>C)
c.325T>G (p.Phe109Val)
9g.36246307A>GCA373419358CLTA,GNEc.433T>C (p.Phe145Leu)
c.163T>C (p.Phe55Leu)
c.340T>C (p.Phe114Leu)
c.486-16891A>G (n.486-16891A>G)
c.325T>C (p.Phe109Leu)
9g.36246307A>TCA373419356CLTA,GNEc.433T>A (p.Phe145Ile)
c.163T>A (p.Phe55Ile)
c.340T>A (p.Phe114Ile)
c.486-16891A>T (n.486-16891A>T)
c.325T>A (p.Phe109Ile)
9g.36246308C>ACA373419360CLTA,GNEc.432G>T (p.Arg144Ser)
c.162G>T (p.Arg54Ser)
c.339G>T (p.Arg113Ser)
c.486-16890C>A (n.486-16890C>A)
c.324G>T (p.Arg108Ser)
9g.36246308C>GCA373419363CLTA,GNEc.432G>C (p.Arg144Ser)
c.162G>C (p.Arg54Ser)
c.339G>C (p.Arg113Ser)
c.486-16890C>G (n.486-16890C>G)
c.324G>C (p.Arg108Ser)
9g.36246308C>TCA464619890CLTA,GNEc.432G>A (p.Arg144=)
c.162G>A (p.Arg54=)
c.339G>A (p.Arg113=)
c.486-16890C>T (n.486-16890C>T)
c.324G>A (p.Arg108=)
9g.36246309C>ACA373419366CLTA,GNEc.431G>T (p.Arg144Met)
c.161G>T (p.Arg54Met)
c.338G>T (p.Arg113Met)
c.486-16889C>A (n.486-16889C>A)
c.323G>T (p.Arg108Met)
9g.36246309C>GCA373419374CLTA,GNEc.431G>C (p.Arg144Thr)
c.161G>C (p.Arg54Thr)
c.338G>C (p.Arg113Thr)
c.486-16889C>G (n.486-16889C>G)
c.323G>C (p.Arg108Thr)
9g.36246309C>TCA373419375CLTA,GNEc.431G>A (p.Arg144Lys)
c.161G>A (p.Arg54Lys)
c.338G>A (p.Arg113Lys)
c.486-16889C>T (n.486-16889C>T)
c.323G>A (p.Arg108Lys)
9g.36246310T>ACA373419378CLTA,GNEc.430A>T (p.Arg144Trp)
c.160A>T (p.Arg54Trp)
c.337A>T (p.Arg113Trp)
c.486-16888T>A (n.486-16888T>A)
c.322A>T (p.Arg108Trp)
9g.36246310T>CCA373419381CLTA,GNEc.430A>G (p.Arg144Gly)
c.160A>G (p.Arg54Gly)
c.337A>G (p.Arg113Gly)
c.486-16888T>C (n.486-16888T>C)
c.322A>G (p.Arg108Gly)
9g.36246310T>GCA464619897CLTA,GNEc.430A>C (p.Arg144=)
c.160A>C (p.Arg54=)
c.337A>C (p.Arg113=)
c.486-16888T>G (n.486-16888T>G)
c.322A>C (p.Arg108=)
9g.36246311G>ACA192828325CLTA,GNEc.429C>T (p.Asp143=)
c.159C>T (p.Asp53=)
c.336C>T (p.Asp112=)
c.486-16887G>A (n.486-16887G>A)
c.321C>T (p.Asp107=)
 dbSNP
9g.36246311G>CCA373419385CLTA,GNEc.429C>G (p.Asp143Glu)
c.159C>G (p.Asp53Glu)
c.336C>G (p.Asp112Glu)
c.486-16887G>C (n.486-16887G>C)
c.321C>G (p.Asp107Glu)
9g.36246311G=CA1846320907CLTA,GNEc.429C= (p.Asp143=)
c.159C= (p.Asp53=)
c.336C= (p.Asp112=)
c.486-16887G= (n.486-16887G=)
c.321C= (p.Asp107=)
9g.36246311G>TCA373419388CLTA,GNEc.429C>A (p.Asp143Glu)
c.159C>A (p.Asp53Glu)
c.336C>A (p.Asp112Glu)
c.486-16887G>T (n.486-16887G>T)
c.321C>A (p.Asp107Glu)
 gnomAD v4
9g.36246312T>ACA373419394CLTA,GNEc.428A>T (p.Asp143Val)
c.158A>T (p.Asp53Val)
c.335A>T (p.Asp112Val)
c.486-16886T>A (n.486-16886T>A)
c.320A>T (p.Asp107Val)
9g.36246312T>CCA373419397CLTA,GNEc.428A>G (p.Asp143Gly)
c.158A>G (p.Asp53Gly)
c.335A>G (p.Asp112Gly)
c.486-16886T>C (n.486-16886T>C)
c.320A>G (p.Asp107Gly)
9g.36246312T>GCA373419401CLTA,GNEc.428A>C (p.Asp143Ala)
c.158A>C (p.Asp53Ala)
c.335A>C (p.Asp112Ala)
c.486-16886T>G (n.486-16886T>G)
c.320A>C (p.Asp107Ala)
9g.36246313C>ACA373419416CLTA,GNEc.427G>T (p.Asp143Tyr)
c.157G>T (p.Asp53Tyr)
c.334G>T (p.Asp112Tyr)
c.486-16885C>A (n.486-16885C>A)
c.319G>T (p.Asp107Tyr)
9g.36246313C>GCA373419407CLTA,GNEc.427G>C (p.Asp143His)
c.157G>C (p.Asp53His)
c.334G>C (p.Asp112His)
c.486-16885C>G (n.486-16885C>G)
c.319G>C (p.Asp107His)
9g.36246313C>TCA373419411CLTA,GNEc.427G>A (p.Asp143Asn)
c.157G>A (p.Asp53Asn)
c.334G>A (p.Asp112Asn)
c.486-16885C>T (n.486-16885C>T)
c.319G>A (p.Asp107Asn)
9g.36246314T>ACA464619903CLTA,GNEc.426A>T (p.Gly142=)
c.156A>T (p.Gly52=)
c.333A>T (p.Gly111=)
c.486-16884T>A (n.486-16884T>A)
c.318A>T (p.Gly106=)
9g.36246314T>CCA464619909CLTA,GNEc.426A>G (p.Gly142=)
c.156A>G (p.Gly52=)
c.333A>G (p.Gly111=)
c.486-16884T>C (n.486-16884T>C)
c.318A>G (p.Gly106=)
9g.36246314T>GCA464619911CLTA,GNEc.426A>C (p.Gly142=)
c.156A>C (p.Gly52=)
c.333A>C (p.Gly111=)
c.486-16884T>G (n.486-16884T>G)
c.318A>C (p.Gly106=)
9g.36246316_36246326delCA2573106149CLTA,GNEc.416_426del (p.Ile139ArgfsTer4)
c.146_156del (p.Ile49ArgfsTer4)
c.323_333del (p.Ile108ArgfsTer4)
c.486-16882_486-16872del (n.486-16882_486-16872del)
c.308_318del (p.Ile103ArgfsTer4)
9g.36246315C>ACA373419421CLTA,GNEc.425G>T (p.Gly142Val)
c.155G>T (p.Gly52Val)
c.332G>T (p.Gly111Val)
c.486-16883C>A (n.486-16883C>A)
c.317G>T (p.Gly106Val)
9g.36246315C>GCA373419423CLTA,GNEc.425G>C (p.Gly142Ala)
c.155G>C (p.Gly52Ala)
c.332G>C (p.Gly111Ala)
c.486-16883C>G (n.486-16883C>G)
c.317G>C (p.Gly106Ala)
9g.36246315C>TCA373419427CLTA,GNEc.425G>A (p.Gly142Glu)
c.155G>A (p.Gly52Glu)
c.332G>A (p.Gly111Glu)
c.486-16883C>T (n.486-16883C>T)
c.317G>A (p.Gly106Glu)
 gnomAD v4
9g.36246316C>ACA373419431CLTA,GNEc.424G>T (p.Gly142Ter)
c.154G>T (p.Gly52Ter)
c.331G>T (p.Gly111Ter)
c.486-16882C>A (n.486-16882C>A)
c.316G>T (p.Gly106Ter)
9g.36246316C>GCA373419435CLTA,GNEc.424G>C (p.Gly142Arg)
c.154G>C (p.Gly52Arg)
c.331G>C (p.Gly111Arg)
c.486-16882C>G (n.486-16882C>G)
c.316G>C (p.Gly106Arg)
9g.36246316C>TCA373419439CLTA,GNEc.424G>A (p.Gly142Arg)
c.154G>A (p.Gly52Arg)
c.331G>A (p.Gly111Arg)
c.486-16882C>T (n.486-16882C>T)
c.316G>A (p.Gly106Arg)
9g.36246317A>CCA373419444CLTA,GNEc.423T>G (p.His141Gln)
c.153T>G (p.His51Gln)
c.330T>G (p.His110Gln)
c.486-16881A>C (n.486-16881A>C)
c.315T>G (p.His105Gln)
9g.36246317A>GCA464619917CLTA,GNEc.423T>C (p.His141=)
c.153T>C (p.His51=)
c.330T>C (p.His110=)
c.486-16881A>G (n.486-16881A>G)
c.315T>C (p.His105=)
 ClinVar dbSNP
9g.36246317A>TCA373419447CLTA,GNEc.423T>A (p.His141Gln)
c.153T>A (p.His51Gln)
c.330T>A (p.His110Gln)
c.486-16881A>T (n.486-16881A>T)
c.315T>A (p.His105Gln)
9g.36246318T>ACA373419452CLTA,GNEc.422A>T (p.His141Leu)
c.152A>T (p.His51Leu)
c.329A>T (p.His110Leu)
c.486-16880T>A (n.486-16880T>A)
c.314A>T (p.His105Leu)
9g.36246318T>CCA10605885CLTA,GNEc.422A>G (p.His141Arg)
c.152A>G (p.His51Arg)
c.329A>G (p.His110Arg)
c.486-16880T>C (n.486-16880T>C)
c.314A>G (p.His105Arg)
 ClinVar dbSNP gnomAD v4
9g.36246318T>GCA373419459CLTA,GNEc.422A>C (p.His141Pro)
c.152A>C (p.His51Pro)
c.329A>C (p.His110Pro)
c.486-16880T>G (n.486-16880T>G)
c.314A>C (p.His105Pro)
9g.36246318T=CA1846320917CLTA,GNEc.422A= (p.His141=)
c.152A= (p.His51=)
c.329A= (p.His110=)
c.486-16880T= (n.486-16880T=)
c.314A= (p.His105=)
9g.36246319G>ACA373419472CLTA,GNEc.421C>T (p.His141Tyr)
c.151C>T (p.His51Tyr)
c.328C>T (p.His110Tyr)
c.486-16879G>A (n.486-16879G>A)
c.313C>T (p.His105Tyr)
9g.36246319G>CCA373419470CLTA,GNEc.421C>G (p.His141Asp)
c.151C>G (p.His51Asp)
c.328C>G (p.His110Asp)
c.486-16879G>C (n.486-16879G>C)
c.313C>G (p.His105Asp)
 ClinVar dbSNP
9g.36246319G>TCA373419464CLTA,GNEc.421C>A (p.His141Asn)
c.151C>A (p.His51Asn)
c.328C>A (p.His110Asn)
c.486-16879G>T (n.486-16879G>T)
c.313C>A (p.His105Asn)
9g.36246320A=CA1846320923CLTA,GNEc.420T= (p.Val140=)
c.150T= (p.Val50=)
c.327T= (p.Val109=)
c.486-16878A= (n.486-16878A=)
c.312T= (p.Val104=)
9g.36246320A>CCA464619921CLTA,GNEc.420T>G (p.Val140=)
c.150T>G (p.Val50=)
c.327T>G (p.Val109=)
c.486-16878A>C (n.486-16878A>C)
c.312T>G (p.Val104=)
 dbSNP gnomAD v3 gnomAD v4
9g.36246320A>GCA464619923CLTA,GNEc.420T>C (p.Val140=)
c.150T>C (p.Val50=)
c.327T>C (p.Val109=)
c.486-16878A>G (n.486-16878A>G)
c.312T>C (p.Val104=)
9g.36246320A>TCA464619924CLTA,GNEc.420T>A (p.Val140=)
c.150T>A (p.Val50=)
c.327T>A (p.Val109=)
c.486-16878A>T (n.486-16878A>T)
c.312T>A (p.Val104=)
9g.36246321delCA2689947826CLTA,GNEc.420del (p.His141MetfsTer16)
c.150del (p.His51MetfsTer16)
c.327del (p.His110MetfsTer16)
c.486-16877del (n.486-16877del)
c.312del (p.His105MetfsTer16)
 gnomAD v4
9g.36246321A>CCA373419487CLTA,GNEc.419T>G (p.Val140Gly)
c.149T>G (p.Val50Gly)
c.326T>G (p.Val109Gly)
c.486-16877A>C (n.486-16877A>C)
c.311T>G (p.Val104Gly)
9g.36246321A>GCA373419478CLTA,GNEc.419T>C (p.Val140Ala)
c.149T>C (p.Val50Ala)
c.326T>C (p.Val109Ala)
c.486-16877A>G (n.486-16877A>G)
c.311T>C (p.Val104Ala)
9g.36246321A>TCA373419483CLTA,GNEc.419T>A (p.Val140Asp)
c.149T>A (p.Val50Asp)
c.326T>A (p.Val109Asp)
c.486-16877A>T (n.486-16877A>T)
c.311T>A (p.Val104Asp)
9g.36246322C>ACA373419492CLTA,GNEc.418G>T (p.Val140Phe)
c.148G>T (p.Val50Phe)
c.325G>T (p.Val109Phe)
c.486-16876C>A (n.486-16876C>A)
c.310G>T (p.Val104Phe)
9g.36246322C>GCA373419495CLTA,GNEc.418G>C (p.Val140Leu)
c.148G>C (p.Val50Leu)
c.325G>C (p.Val109Leu)
c.486-16876C>G (n.486-16876C>G)
c.310G>C (p.Val104Leu)
9g.36246322C>TCA373419499CLTA,GNEc.418G>A (p.Val140Ile)
c.148G>A (p.Val50Ile)
c.325G>A (p.Val109Ile)
c.486-16876C>T (n.486-16876C>T)
c.310G>A (p.Val104Ile)
 ClinVar dbSNP
9g.36246323A>CCA373419503CLTA,GNEc.417T>G (p.Ile139Met)
c.147T>G (p.Ile49Met)
c.324T>G (p.Ile108Met)
c.486-16875A>C (n.486-16875A>C)
c.309T>G (p.Ile103Met)
9g.36246323A>GCA464619930CLTA,GNEc.417T>C (p.Ile139=)
c.147T>C (p.Ile49=)
c.324T>C (p.Ile108=)
c.486-16875A>G (n.486-16875A>G)
c.309T>C (p.Ile103=)
9g.36246323A>TCA464619928CLTA,GNEc.417T>A (p.Ile139=)
c.147T>A (p.Ile49=)
c.324T>A (p.Ile108=)
c.486-16875A>T (n.486-16875A>T)
c.309T>A (p.Ile103=)
9g.36246324A>CCA373419509CLTA,GNEc.416T>G (p.Ile139Ser)
c.146T>G (p.Ile49Ser)
c.323T>G (p.Ile108Ser)
c.486-16874A>C (n.486-16874A>C)
c.308T>G (p.Ile103Ser)
9g.36246324A>GCA373419512CLTA,GNEc.416T>C (p.Ile139Thr)
c.146T>C (p.Ile49Thr)
c.323T>C (p.Ile108Thr)
c.486-16874A>G (n.486-16874A>G)
c.308T>C (p.Ile103Thr)
 ClinVar dbSNP
9g.36246324A>TCA373419516CLTA,GNEc.416T>A (p.Ile139Asn)
c.146T>A (p.Ile49Asn)
c.323T>A (p.Ile108Asn)
c.486-16874A>T (n.486-16874A>T)
c.308T>A (p.Ile103Asn)
9g.36246325T>ACA373419521CLTA,GNEc.415A>T (p.Ile139Phe)
c.145A>T (p.Ile49Phe)
c.322A>T (p.Ile108Phe)
c.486-16873T>A (n.486-16873T>A)
c.307A>T (p.Ile103Phe)
9g.36246325T>CCA373419524CLTA,GNEc.415A>G (p.Ile139Val)
c.145A>G (p.Ile49Val)
c.322A>G (p.Ile108Val)
c.486-16873T>C (n.486-16873T>C)
c.307A>G (p.Ile103Val)
9g.36246325T>GCA373419529CLTA,GNEc.415A>C (p.Ile139Leu)
c.145A>C (p.Ile49Leu)
c.322A>C (p.Ile108Leu)
c.486-16873T>G (n.486-16873T>G)
c.307A>C (p.Ile103Leu)
9g.36246326C>ACA373419555CLTA,GNEc.414G>T (p.Met138Ile)
c.144G>T (p.Met48Ile)
c.321G>T (p.Met107Ile)
c.486-16872C>A (n.486-16872C>A)
c.306G>T (p.Met102Ile)
9g.36246326C=CA1846320929CLTA,GNEc.414G= (p.Met138=)
c.144G= (p.Met48=)
c.321G= (p.Met107=)
c.486-16872C= (n.486-16872C=)
c.306G= (p.Met102=)
9g.36246326C>GCA373419550CLTA,GNEc.414G>C (p.Met138Ile)
c.144G>C (p.Met48Ile)
c.321G>C (p.Met107Ile)
c.486-16872C>G (n.486-16872C>G)
c.306G>C (p.Met102Ile)
 COSMIC COSMIC COSMIC
9g.36246326C>TCA373419536CLTA,GNEc.414G>A (p.Met138Ile)
c.144G>A (p.Met48Ile)
c.321G>A (p.Met107Ile)
c.486-16872C>T (n.486-16872C>T)
c.306G>A (p.Met102Ile)
 dbSNP gnomAD v2 gnomAD v4
9g.36246327A>CCA373419564CLTA,GNEc.413T>G (p.Met138Arg)
c.143T>G (p.Met48Arg)
c.320T>G (p.Met107Arg)
c.486-16871A>C (n.486-16871A>C)
c.305T>G (p.Met102Arg)
9g.36246327A>GCA373419567CLTA,GNEc.413T>C (p.Met138Thr)
c.143T>C (p.Met48Thr)
c.320T>C (p.Met107Thr)
c.486-16871A>G (n.486-16871A>G)
c.305T>C (p.Met102Thr)
9g.36246327A>TCA373419570CLTA,GNEc.413T>A (p.Met138Lys)
c.143T>A (p.Met48Lys)
c.320T>A (p.Met107Lys)
c.486-16871A>T (n.486-16871A>T)
c.305T>A (p.Met102Lys)
9g.36246328T>ACA373419574CLTA,GNEc.412A>T (p.Met138Leu)
c.142A>T (p.Met48Leu)
c.319A>T (p.Met107Leu)
c.486-16870T>A (n.486-16870T>A)
c.304A>T (p.Met102Leu)
9g.36246328T>CCA373419576CLTA,GNEc.412A>G (p.Met138Val)
c.142A>G (p.Met48Val)
c.319A>G (p.Met107Val)
c.486-16870T>C (n.486-16870T>C)
c.304A>G (p.Met102Val)
 gnomAD v4
9g.36246328T>GCA373419580CLTA,GNEc.412A>C (p.Met138Leu)
c.142A>C (p.Met48Leu)
c.319A>C (p.Met107Leu)
c.486-16870T>G (n.486-16870T>G)
c.304A>C (p.Met102Leu)
9g.36246328T=CA1846320939CLTA,GNEc.412A= (p.Met138=)
c.142A= (p.Met48=)
c.319A= (p.Met107=)
c.486-16870T= (n.486-16870T=)
c.304A= (p.Met102=)
9g.36246329G>ACA464619947CLTA,GNEc.411C>T (p.Ile137=)
c.141C>T (p.Ile47=)
c.318C>T (p.Ile106=)
c.486-16869G>A (n.486-16869G>A)
c.303C>T (p.Ile101=)
9g.36246329G>CCA373419585CLTA,GNEc.411C>G (p.Ile137Met)
c.141C>G (p.Ile47Met)
c.318C>G (p.Ile106Met)
c.486-16869G>C (n.486-16869G>C)
c.303C>G (p.Ile101Met)
9g.36246329G=CA1846320949CLTA,GNEc.411C= (p.Ile137=)
c.141C= (p.Ile47=)
c.318C= (p.Ile106=)
c.486-16869G= (n.486-16869G=)
c.303C= (p.Ile101=)
9g.36246329G>TCA464619951CLTA,GNEc.411C>A (p.Ile137=)
c.141C>A (p.Ile47=)
c.318C>A (p.Ile106=)
c.486-16869G>T (n.486-16869G>T)
c.303C>A (p.Ile101=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246329dupCA1123252962CLTA,GNEc.411dup (p.Met138HisfsTer9)
c.141dup (p.Met48HisfsTer9)
c.318dup (p.Met107HisfsTer9)
c.486-16869dup (n.486-16869dup)
c.303dup (p.Met102HisfsTer9)
 dbSNP gnomAD v3 gnomAD v4
9g.36246330A=CA1846320950CLTA,GNEc.410T= (p.Ile137=)
c.140T= (p.Ile47=)
c.317T= (p.Ile106=)
c.486-16868A= (n.486-16868A=)
c.302T= (p.Ile101=)
9g.36246330A>CCA373419591CLTA,GNEc.410T>G (p.Ile137Ser)
c.140T>G (p.Ile47Ser)
c.317T>G (p.Ile106Ser)
c.486-16868A>C (n.486-16868A>C)
c.302T>G (p.Ile101Ser)
9g.36246330A>GCA5056733CLTA,GNEc.410T>C (p.Ile137Thr)
c.140T>C (p.Ile47Thr)
c.317T>C (p.Ile106Thr)
c.486-16868A>G (n.486-16868A>G)
c.302T>C (p.Ile101Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246330A>TCA373419599CLTA,GNEc.410T>A (p.Ile137Asn)
c.140T>A (p.Ile47Asn)
c.317T>A (p.Ile106Asn)
c.486-16868A>T (n.486-16868A>T)
c.302T>A (p.Ile101Asn)
9g.36246331T>ACA373419603CLTA,GNEc.409A>T (p.Ile137Phe)
c.139A>T (p.Ile47Phe)
c.316A>T (p.Ile106Phe)
c.486-16867T>A (n.486-16867T>A)
c.301A>T (p.Ile101Phe)
 dbSNP
9g.36246331T>CCA5056734CLTA,GNEc.409A>G (p.Ile137Val)
c.139A>G (p.Ile47Val)
c.316A>G (p.Ile106Val)
c.486-16867T>C (n.486-16867T>C)
c.301A>G (p.Ile101Val)
 dbSNP ExAC
9g.36246331T>GCA373419611CLTA,GNEc.409A>C (p.Ile137Leu)
c.139A>C (p.Ile47Leu)
c.316A>C (p.Ile106Leu)
c.486-16867T>G (n.486-16867T>G)
c.301A>C (p.Ile101Leu)
9g.36246331T=CA1846320951CLTA,GNEc.409A= (p.Ile137=)
c.139A= (p.Ile47=)
c.316A= (p.Ile106=)
c.486-16867T= (n.486-16867T=)
c.301A= (p.Ile101=)
9g.36246331_36246334delinsTATCCA1846320952CLTA,GNEc.406_409delinsGATA (p.Asp136=)
c.136_139delinsGATA (p.Asp46=)
c.313_316delinsGATA (p.Asp105=)
c.486-16867_486-16864delinsTATC (n.486-16867_486-16864delinsTATC)
c.298_301delinsGATA (p.Asp100=)
9g.36246332A=CA1846320957CLTA,GNEc.408T= (p.Asp136=)
c.138T= (p.Asp46=)
c.315T= (p.Asp105=)
c.486-16866A= (n.486-16866A=)
c.300T= (p.Asp100=)
9g.36246332A>CCA373419619CLTA,GNEc.408T>G (p.Asp136Glu)
c.138T>G (p.Asp46Glu)
c.315T>G (p.Asp105Glu)
c.486-16866A>C (n.486-16866A>C)
c.300T>G (p.Asp100Glu)
9g.36246332A>GCA10630085CLTA,GNEc.408T>C (p.Asp136=)
c.138T>C (p.Asp46=)
c.315T>C (p.Asp105=)
c.486-16866A>G (n.486-16866A>G)
c.300T>C (p.Asp100=)
 ClinVar dbSNP
9g.36246332A>TCA373419615CLTA,GNEc.408T>A (p.Asp136Glu)
c.138T>A (p.Asp46Glu)
c.315T>A (p.Asp105Glu)
c.486-16866A>T (n.486-16866A>T)
c.300T>A (p.Asp100Glu)
9g.36246333_36246335delCA1123252967CLTA,GNEc.406_408del (p.Asp136del)
c.136_138del (p.Asp46del)
c.313_315del (p.Asp105del)
c.486-16865_486-16863del (n.486-16865_486-16863del)
c.298_300del (p.Asp100del)
 dbSNP gnomAD v3 gnomAD v4
9g.36246333T>ACA373419626CLTA,GNEc.407A>T (p.Asp136Val)
c.137A>T (p.Asp46Val)
c.314A>T (p.Asp105Val)
c.486-16865T>A (n.486-16865T>A)
c.299A>T (p.Asp100Val)
9g.36246333T>CCA373419631CLTA,GNEc.407A>G (p.Asp136Gly)
c.137A>G (p.Asp46Gly)
c.314A>G (p.Asp105Gly)
c.486-16865T>C (n.486-16865T>C)
c.299A>G (p.Asp100Gly)
 gnomAD v4
9g.36246333T>GCA373419629CLTA,GNEc.407A>C (p.Asp136Ala)
c.137A>C (p.Asp46Ala)
c.314A>C (p.Asp105Ala)
c.486-16865T>G (n.486-16865T>G)
c.299A>C (p.Asp100Ala)
9g.36246334C>ACA373419635CLTA,GNEc.406G>T (p.Asp136Tyr)
c.136G>T (p.Asp46Tyr)
c.313G>T (p.Asp105Tyr)
c.486-16864C>A (n.486-16864C>A)
c.298G>T (p.Asp100Tyr)
9g.36246334C=CA1846320961CLTA,GNEc.406G= (p.Asp136=)
c.136G= (p.Asp46=)
c.313G= (p.Asp105=)
c.486-16864C= (n.486-16864C=)
c.298G= (p.Asp100=)
9g.36246334C>GCA192828341CLTA,GNEc.406G>C (p.Asp136His)
c.136G>C (p.Asp46His)
c.313G>C (p.Asp105His)
c.486-16864C>G (n.486-16864C>G)
c.298G>C (p.Asp100His)
 dbSNP gnomAD v3 gnomAD v4
9g.36246334C>TCA192828348CLTA,GNEc.406G>A (p.Asp136Asn)
c.136G>A (p.Asp46Asn)
c.313G>A (p.Asp105Asn)
c.486-16864C>T (n.486-16864C>T)
c.298G>A (p.Asp100Asn)
 dbSNP
9g.36246335A=CA1846320967CLTA,GNEc.405T= (p.Pro135=)
c.135T= (p.Pro45=)
c.312T= (p.Pro104=)
c.486-16863A= (n.486-16863A=)
c.297T= (p.Pro99=)
9g.36246335A>CCA5056735CLTA,GNEc.405T>G (p.Pro135=)
c.135T>G (p.Pro45=)
c.312T>G (p.Pro104=)
c.486-16863A>C (n.486-16863A>C)
c.297T>G (p.Pro99=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246335A>GCA464619965CLTA,GNEc.405T>C (p.Pro135=)
c.135T>C (p.Pro45=)
c.312T>C (p.Pro104=)
c.486-16863A>G (n.486-16863A>G)
c.297T>C (p.Pro99=)
9g.36246335A>TCA464619967CLTA,GNEc.405T>A (p.Pro135=)
c.135T>A (p.Pro45=)
c.312T>A (p.Pro104=)
c.486-16863A>T (n.486-16863A>T)
c.297T>A (p.Pro99=)
9g.36246336G>ACA373419652CLTA,GNEc.404C>T (p.Pro135Leu)
c.134C>T (p.Pro45Leu)
c.311C>T (p.Pro104Leu)
c.486-16862G>A (n.486-16862G>A)
c.296C>T (p.Pro99Leu)
 dbSNP
9g.36246336G>CCA373419654CLTA,GNEc.404C>G (p.Pro135Arg)
c.134C>G (p.Pro45Arg)
c.311C>G (p.Pro104Arg)
c.486-16862G>C (n.486-16862G>C)
c.296C>G (p.Pro99Arg)
9g.36246336G=CA1846320972CLTA,GNEc.404C= (p.Pro135=)
c.134C= (p.Pro45=)
c.311C= (p.Pro104=)
c.486-16862G= (n.486-16862G=)
c.296C= (p.Pro99=)
9g.36246336G>TCA373419657CLTA,GNEc.404C>A (p.Pro135His)
c.134C>A (p.Pro45His)
c.311C>A (p.Pro104His)
c.486-16862G>T (n.486-16862G>T)
c.296C>A (p.Pro99His)
9g.36246337G>ACA373419661CLTA,GNEc.403C>T (p.Pro135Ser)
c.133C>T (p.Pro45Ser)
c.310C>T (p.Pro104Ser)
c.486-16861G>A (n.486-16861G>A)
c.295C>T (p.Pro99Ser)
9g.36246337G>CCA373419663CLTA,GNEc.403C>G (p.Pro135Ala)
c.133C>G (p.Pro45Ala)
c.310C>G (p.Pro104Ala)
c.486-16861G>C (n.486-16861G>C)
c.295C>G (p.Pro99Ala)
9g.36246337G>TCA373419665CLTA,GNEc.403C>A (p.Pro135Thr)
c.133C>A (p.Pro45Thr)
c.310C>A (p.Pro104Thr)
c.486-16861G>T (n.486-16861G>T)
c.295C>A (p.Pro99Thr)
9g.36246338C>ACA373419673CLTA,GNEc.402G>T (p.Lys134Asn)
c.132G>T (p.Lys44Asn)
c.309G>T (p.Lys103Asn)
c.486-16860C>A (n.486-16860C>A)
c.294G>T (p.Lys98Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.36246338C=CA1846320976CLTA,GNEc.402G= (p.Lys134=)
c.132G= (p.Lys44=)
c.309G= (p.Lys103=)
c.486-16860C= (n.486-16860C=)
c.294G= (p.Lys98=)
9g.36246338C>GCA373419675CLTA,GNEc.402G>C (p.Lys134Asn)
c.132G>C (p.Lys44Asn)
c.309G>C (p.Lys103Asn)
c.486-16860C>G (n.486-16860C>G)
c.294G>C (p.Lys98Asn)
9g.36246338C>TCA464619975CLTA,GNEc.402G>A (p.Lys134=)
c.132G>A (p.Lys44=)
c.309G>A (p.Lys103=)
c.486-16860C>T (n.486-16860C>T)
c.294G>A (p.Lys98=)
 dbSNP gnomAD v2 gnomAD v4
9g.36246339T>ACA373419678CLTA,GNEc.401A>T (p.Lys134Met)
c.131A>T (p.Lys44Met)
c.308A>T (p.Lys103Met)
c.486-16859T>A (n.486-16859T>A)
c.293A>T (p.Lys98Met)
9g.36246339T>CCA373419687CLTA,GNEc.401A>G (p.Lys134Arg)
c.131A>G (p.Lys44Arg)
c.308A>G (p.Lys103Arg)
c.486-16859T>C (n.486-16859T>C)
c.293A>G (p.Lys98Arg)
9g.36246339T>GCA373419681CLTA,GNEc.401A>C (p.Lys134Thr)
c.131A>C (p.Lys44Thr)
c.308A>C (p.Lys103Thr)
c.486-16859T>G (n.486-16859T>G)
c.293A>C (p.Lys98Thr)
9g.36246340T>ACA373419692CLTA,GNEc.400A>T (p.Lys134Ter)
c.130A>T (p.Lys44Ter)
c.307A>T (p.Lys103Ter)
c.486-16858T>A (n.486-16858T>A)
c.292A>T (p.Lys98Ter)
9g.36246340T>CCA373419694CLTA,GNEc.400A>G (p.Lys134Glu)
c.130A>G (p.Lys44Glu)
c.307A>G (p.Lys103Glu)
c.486-16858T>C (n.486-16858T>C)
c.292A>G (p.Lys98Glu)
9g.36246340T>GCA373419696CLTA,GNEc.400A>C (p.Lys134Gln)
c.130A>C (p.Lys44Gln)
c.307A>C (p.Lys103Gln)
c.486-16858T>G (n.486-16858T>G)
c.292A>C (p.Lys98Gln)
9g.36246341C>ACA464619984CLTA,GNEc.399G>T (p.Leu133=)
c.129G>T (p.Leu43=)
c.306G>T (p.Leu102=)
c.486-16857C>A (n.486-16857C>A)
c.291G>T (p.Leu97=)
9g.36246341C=CA1846320979CLTA,GNEc.399G= (p.Leu133=)
c.129G= (p.Leu43=)
c.306G= (p.Leu102=)
c.486-16857C= (n.486-16857C=)
c.291G= (p.Leu97=)
9g.36246341C>GCA464619982CLTA,GNEc.399G>C (p.Leu133=)
c.129G>C (p.Leu43=)
c.306G>C (p.Leu102=)
c.486-16857C>G (n.486-16857C>G)
c.291G>C (p.Leu97=)
9g.36246341C>TCA5056736CLTA,GNEc.399G>A (p.Leu133=)
c.129G>A (p.Leu43=)
c.306G>A (p.Leu102=)
c.486-16857C>T (n.486-16857C>T)
c.291G>A (p.Leu97=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246342A=CA1846320983CLTA,GNEc.398T= (p.Leu133=)
c.128T= (p.Leu43=)
c.305T= (p.Leu102=)
c.486-16856A= (n.486-16856A=)
c.290T= (p.Leu97=)
9g.36246342A>CCA373419702CLTA,GNEc.398T>G (p.Leu133Arg)
c.128T>G (p.Leu43Arg)
c.305T>G (p.Leu102Arg)
c.486-16856A>C (n.486-16856A>C)
c.290T>G (p.Leu97Arg)
9g.36246342A>GCA5056737CLTA,GNEc.398T>C (p.Leu133Pro)
c.128T>C (p.Leu43Pro)
c.305T>C (p.Leu102Pro)
c.486-16856A>G (n.486-16856A>G)
c.290T>C (p.Leu97Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246342A>TCA373419706CLTA,GNEc.398T>A (p.Leu133Gln)
c.128T>A (p.Leu43Gln)
c.305T>A (p.Leu102Gln)
c.486-16856A>T (n.486-16856A>T)
c.290T>A (p.Leu97Gln)
9g.36246343G>ACA464619987CLTA,GNEc.397C>T (p.Leu133=)
c.127C>T (p.Leu43=)
c.304C>T (p.Leu102=)
c.486-16855G>A (n.486-16855G>A)
c.289C>T (p.Leu97=)
 gnomAD v4
9g.36246343G>CCA373419710CLTA,GNEc.397C>G (p.Leu133Val)
c.127C>G (p.Leu43Val)
c.304C>G (p.Leu102Val)
c.486-16855G>C (n.486-16855G>C)
c.289C>G (p.Leu97Val)
9g.36246343G>TCA373419711CLTA,GNEc.397C>A (p.Leu133Met)
c.127C>A (p.Leu43Met)
c.304C>A (p.Leu102Met)
c.486-16855G>T (n.486-16855G>T)
c.289C>A (p.Leu97Met)
9g.36246344G>ACA464619989CLTA,GNEc.396C>T (p.Arg132=)
c.126C>T (p.Arg42=)
c.303C>T (p.Arg101=)
c.486-16854G>A (n.486-16854G>A)
c.288C>T (p.Arg96=)
9g.36246344G>CCA464619991CLTA,GNEc.396C>G (p.Arg132=)
c.126C>G (p.Arg42=)
c.303C>G (p.Arg101=)
c.486-16854G>C (n.486-16854G>C)
c.288C>G (p.Arg96=)
 ClinVar gnomAD v4
9g.36246344G>TCA464619992CLTA,GNEc.396C>A (p.Arg132=)
c.126C>A (p.Arg42=)
c.303C>A (p.Arg101=)
c.486-16854G>T (n.486-16854G>T)
c.288C>A (p.Arg96=)
9g.36246345delCA2689947827CLTA,GNEc.395del (p.Arg132ProfsTer2)
c.125del (p.Arg42ProfsTer2)
c.302del (p.Arg101ProfsTer2)
c.486-16853del (n.486-16853del)
c.287del (p.Arg96ProfsTer2)
 gnomAD v4
9g.36246345C>ACA373419712CLTA,GNEc.395G>T (p.Arg132Leu)
c.125G>T (p.Arg42Leu)
c.302G>T (p.Arg101Leu)
c.486-16853C>A (n.486-16853C>A)
c.287G>T (p.Arg96Leu)
 gnomAD v4
9g.36246345C=CA1846320990CLTA,GNEc.395G= (p.Arg132=)
c.125G= (p.Arg42=)
c.302G= (p.Arg101=)
c.486-16853C= (n.486-16853C=)
c.287G= (p.Arg96=)
9g.36246345C>GCA373419713CLTA,GNEc.395G>C (p.Arg132Pro)
c.125G>C (p.Arg42Pro)
c.302G>C (p.Arg101Pro)
c.486-16853C>G (n.486-16853C>G)
c.287G>C (p.Arg96Pro)
 ClinVar
9g.36246345C>TCA5056738CLTA,GNEc.395G>A (p.Arg132His)
c.125G>A (p.Arg42His)
c.302G>A (p.Arg101His)
c.486-16853C>T (n.486-16853C>T)
c.287G>A (p.Arg96His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246346G>ACA5056739CLTA,GNEc.394C>T (p.Arg132Cys)
c.124C>T (p.Arg42Cys)
c.301C>T (p.Arg101Cys)
c.486-16852G>A (n.486-16852G>A)
c.286C>T (p.Arg96Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246346G>CCA373419714CLTA,GNEc.394C>G (p.Arg132Gly)
c.124C>G (p.Arg42Gly)
c.301C>G (p.Arg101Gly)
c.486-16852G>C (n.486-16852G>C)
c.286C>G (p.Arg96Gly)
9g.36246346G=CA1846320995CLTA,GNEc.394C= (p.Arg132=)
c.124C= (p.Arg42=)
c.301C= (p.Arg101=)
c.486-16852G= (n.486-16852G=)
c.286C= (p.Arg96=)
9g.36246346G>TCA373419715CLTA,GNEc.394C>A (p.Arg132Ser)
c.124C>A (p.Arg42Ser)
c.301C>A (p.Arg101Ser)
c.486-16852G>T (n.486-16852G>T)
c.286C>A (p.Arg96Ser)
9g.36246347A>CCA373419716CLTA,GNEc.393T>G (p.Asn131Lys)
c.123T>G (p.Asn41Lys)
c.300T>G (p.Asn100Lys)
c.486-16851A>C (n.486-16851A>C)
c.285T>G (p.Asn95Lys)
9g.36246347A>GCA464620001CLTA,GNEc.393T>C (p.Asn131=)
c.123T>C (p.Asn41=)
c.300T>C (p.Asn100=)
c.486-16851A>G (n.486-16851A>G)
c.285T>C (p.Asn95=)
9g.36246347A>TCA373419717CLTA,GNEc.393T>A (p.Asn131Lys)
c.123T>A (p.Asn41Lys)
c.300T>A (p.Asn100Lys)
c.486-16851A>T (n.486-16851A>T)
c.285T>A (p.Asn95Lys)
9g.36246348T>ACA373419720CLTA,GNEc.392A>T (p.Asn131Ile)
c.122A>T (p.Asn41Ile)
c.299A>T (p.Asn100Ile)
c.486-16850T>A (n.486-16850T>A)
c.284A>T (p.Asn95Ile)
9g.36246348T>CCA373419718CLTA,GNEc.392A>G (p.Asn131Ser)
c.122A>G (p.Asn41Ser)
c.299A>G (p.Asn100Ser)
c.486-16850T>C (n.486-16850T>C)
c.284A>G (p.Asn95Ser)
9g.36246348T>GCA373419719CLTA,GNEc.392A>C (p.Asn131Thr)
c.122A>C (p.Asn41Thr)
c.299A>C (p.Asn100Thr)
c.486-16850T>G (n.486-16850T>G)
c.284A>C (p.Asn95Thr)
9g.36246349T>ACA373419721CLTA,GNEc.391A>T (p.Asn131Tyr)
c.121A>T (p.Asn41Tyr)
c.298A>T (p.Asn100Tyr)
c.486-16849T>A (n.486-16849T>A)
c.283A>T (p.Asn95Tyr)
9g.36246349T>CCA373419722CLTA,GNEc.391A>G (p.Asn131Asp)
c.121A>G (p.Asn41Asp)
c.298A>G (p.Asn100Asp)
c.486-16849T>C (n.486-16849T>C)
c.283A>G (p.Asn95Asp)
9g.36246349T>GCA373419723CLTA,GNEc.391A>C (p.Asn131His)
c.121A>C (p.Asn41His)
c.298A>C (p.Asn100His)
c.486-16849T>G (n.486-16849T>G)
c.283A>C (p.Asn95His)
9g.36246350A=CA1846321000CLTA,GNEc.390T= (p.Leu130=)
c.120T= (p.Leu40=)
c.297T= (p.Leu99=)
c.486-16848A= (n.486-16848A=)
c.282T= (p.Leu94=)
9g.36246350A>CCA10606154CLTA,GNEc.390T>G (p.Leu130=)
c.120T>G (p.Leu40=)
c.297T>G (p.Leu99=)
c.486-16848A>C (n.486-16848A>C)
c.282T>G (p.Leu94=)
 ClinVar dbSNP
9g.36246350A>GCA5056740CLTA,GNEc.390T>C (p.Leu130=)
c.120T>C (p.Leu40=)
c.297T>C (p.Leu99=)
c.486-16848A>G (n.486-16848A>G)
c.282T>C (p.Leu94=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246350A>TCA464620011CLTA,GNEc.390T>A (p.Leu130=)
c.120T>A (p.Leu40=)
c.297T>A (p.Leu99=)
c.486-16848A>T (n.486-16848A>T)
c.282T>A (p.Leu94=)
9g.36246351A=CA1846321010CLTA,GNEc.389T= (p.Leu130=)
c.119T= (p.Leu40=)
c.296T= (p.Leu99=)
c.486-16847A= (n.486-16847A=)
c.281T= (p.Leu94=)
9g.36246351A>CCA373419724CLTA,GNEc.389T>G (p.Leu130Arg)
c.119T>G (p.Leu40Arg)
c.296T>G (p.Leu99Arg)
c.486-16847A>C (n.486-16847A>C)
c.281T>G (p.Leu94Arg)
9g.36246351A>GCA373419726CLTA,GNEc.389T>C (p.Leu130Pro)
c.119T>C (p.Leu40Pro)
c.296T>C (p.Leu99Pro)
c.486-16847A>G (n.486-16847A>G)
c.281T>C (p.Leu94Pro)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246351A>TCA373419725CLTA,GNEc.389T>A (p.Leu130His)
c.119T>A (p.Leu40His)
c.296T>A (p.Leu99His)
c.486-16847A>T (n.486-16847A>T)
c.281T>A (p.Leu94His)
9g.36246352G>ACA373419727CLTA,GNEc.388C>T (p.Leu130Phe)
c.118C>T (p.Leu40Phe)
c.295C>T (p.Leu99Phe)
c.486-16846G>A (n.486-16846G>A)
c.280C>T (p.Leu94Phe)
9g.36246352G>CCA373419729CLTA,GNEc.388C>G (p.Leu130Val)
c.118C>G (p.Leu40Val)
c.295C>G (p.Leu99Val)
c.486-16846G>C (n.486-16846G>C)
c.280C>G (p.Leu94Val)
 dbSNP gnomAD v3 gnomAD v4
9g.36246352G=CA1846321016CLTA,GNEc.388C= (p.Leu130=)
c.118C= (p.Leu40=)
c.295C= (p.Leu99=)
c.486-16846G= (n.486-16846G=)
c.280C= (p.Leu94=)
9g.36246352G>TCA373419730CLTA,GNEc.388C>A (p.Leu130Ile)
c.118C>A (p.Leu40Ile)
c.295C>A (p.Leu99Ile)
c.486-16846G>T (n.486-16846G>T)
c.280C>A (p.Leu94Ile)
9g.36246353G>ACA464620018CLTA,GNEc.387C>T (p.Val129=)
c.117C>T (p.Val39=)
c.294C>T (p.Val98=)
c.486-16845G>A (n.486-16845G>A)
c.279C>T (p.Val93=)
 dbSNP gnomAD v4
9g.36246353G>CCA464620019CLTA,GNEc.387C>G (p.Val129=)
c.117C>G (p.Val39=)
c.294C>G (p.Val98=)
c.486-16845G>C (n.486-16845G>C)
c.279C>G (p.Val93=)
9g.36246353G=CA1846321021CLTA,GNEc.387C= (p.Val129=)
c.117C= (p.Val39=)
c.294C= (p.Val98=)
c.486-16845G= (n.486-16845G=)
c.279C= (p.Val93=)
9g.36246353G>TCA464620020CLTA,GNEc.387C>A (p.Val129=)
c.117C>A (p.Val39=)
c.294C>A (p.Val98=)
c.486-16845G>T (n.486-16845G>T)
c.279C>A (p.Val93=)
9g.36246354A>CCA373419731CLTA,GNEc.386T>G (p.Val129Gly)
c.116T>G (p.Val39Gly)
c.293T>G (p.Val98Gly)
c.486-16844A>C (n.486-16844A>C)
c.278T>G (p.Val93Gly)
9g.36246354A>GCA373419732CLTA,GNEc.386T>C (p.Val129Ala)
c.116T>C (p.Val39Ala)
c.293T>C (p.Val98Ala)
c.486-16844A>G (n.486-16844A>G)
c.278T>C (p.Val93Ala)
9g.36246354A>TCA373419733CLTA,GNEc.386T>A (p.Val129Asp)
c.116T>A (p.Val39Asp)
c.293T>A (p.Val98Asp)
c.486-16844A>T (n.486-16844A>T)
c.278T>A (p.Val93Asp)
9g.36246355C>ACA373419734CLTA,GNEc.385G>T (p.Val129Phe)
c.115G>T (p.Val39Phe)
c.292G>T (p.Val98Phe)
c.486-16843C>A (n.486-16843C>A)
c.277G>T (p.Val93Phe)
9g.36246355C>GCA373419735CLTA,GNEc.385G>C (p.Val129Leu)
c.115G>C (p.Val39Leu)
c.292G>C (p.Val98Leu)
c.486-16843C>G (n.486-16843C>G)
c.277G>C (p.Val93Leu)
9g.36246355C>TCA373419736CLTA,GNEc.385G>A (p.Val129Ile)
c.115G>A (p.Val39Ile)
c.292G>A (p.Val98Ile)
c.486-16843C>T (n.486-16843C>T)
c.277G>A (p.Val93Ile)
9g.36246356A=CA1846321026CLTA,GNEc.384T= (p.Asp128=)
c.114T= (p.Asp38=)
c.291T= (p.Asp97=)
c.486-16842A= (n.486-16842A=)
c.276T= (p.Asp92=)
9g.36246356A>CCA373419737CLTA,GNEc.384T>G (p.Asp128Glu)
c.114T>G (p.Asp38Glu)
c.291T>G (p.Asp97Glu)
c.486-16842A>C (n.486-16842A>C)
c.276T>G (p.Asp92Glu)
9g.36246356A>GCA464620030CLTA,GNEc.384T>C (p.Asp128=)
c.114T>C (p.Asp38=)
c.291T>C (p.Asp97=)
c.486-16842A>G (n.486-16842A>G)
c.276T>C (p.Asp92=)
 dbSNP
9g.36246356A>TCA373419738CLTA,GNEc.384T>A (p.Asp128Glu)
c.114T>A (p.Asp38Glu)
c.291T>A (p.Asp97Glu)
c.486-16842A>T (n.486-16842A>T)
c.276T>A (p.Asp92Glu)
9g.36246357T>ACA373419741CLTA,GNEc.383A>T (p.Asp128Val)
c.113A>T (p.Asp38Val)
c.290A>T (p.Asp97Val)
c.486-16841T>A (n.486-16841T>A)
c.275A>T (p.Asp92Val)
9g.36246357T>CCA373419740CLTA,GNEc.383A>G (p.Asp128Gly)
c.113A>G (p.Asp38Gly)
c.290A>G (p.Asp97Gly)
c.486-16841T>C (n.486-16841T>C)
c.275A>G (p.Asp92Gly)
9g.36246357T>GCA373419739CLTA,GNEc.383A>C (p.Asp128Ala)
c.113A>C (p.Asp38Ala)
c.290A>C (p.Asp97Ala)
c.486-16841T>G (n.486-16841T>G)
c.275A>C (p.Asp92Ala)
9g.36246358C>ACA373419742CLTA,GNEc.382G>T (p.Asp128Tyr)
c.112G>T (p.Asp38Tyr)
c.289G>T (p.Asp97Tyr)
c.486-16840C>A (n.486-16840C>A)
c.274G>T (p.Asp92Tyr)
9g.36246358C>GCA373419744CLTA,GNEc.382G>C (p.Asp128His)
c.112G>C (p.Asp38His)
c.289G>C (p.Asp97His)
c.486-16840C>G (n.486-16840C>G)
c.274G>C (p.Asp92His)
9g.36246358C>TCA373419743CLTA,GNEc.382G>A (p.Asp128Asn)
c.112G>A (p.Asp38Asn)
c.289G>A (p.Asp97Asn)
c.486-16840C>T (n.486-16840C>T)
c.274G>A (p.Asp92Asn)
 gnomAD v4
9g.36246359T>ACA464620036CLTA,GNEc.381A>T (p.Pro127=)
c.111A>T (p.Pro37=)
c.288A>T (p.Pro96=)
c.486-16839T>A (n.486-16839T>A)
c.273A>T (p.Pro91=)
9g.36246359T>CCA464620037CLTA,GNEc.381A>G (p.Pro127=)
c.111A>G (p.Pro37=)
c.288A>G (p.Pro96=)
c.486-16839T>C (n.486-16839T>C)
c.273A>G (p.Pro91=)
 dbSNP
9g.36246359T>GCA464620038CLTA,GNEc.381A>C (p.Pro127=)
c.111A>C (p.Pro37=)
c.288A>C (p.Pro96=)
c.486-16839T>G (n.486-16839T>G)
c.273A>C (p.Pro91=)
9g.36246359T=CA1846321034CLTA,GNEc.381A= (p.Pro127=)
c.111A= (p.Pro37=)
c.288A= (p.Pro96=)
c.486-16839T= (n.486-16839T=)
c.273A= (p.Pro91=)
9g.36246359_36246360delinsTGCA1846321031CLTA,GNEc.380_381delinsCA (p.Pro127=)
c.110_111delinsCA (p.Pro37=)
c.287_288delinsCA (p.Pro96=)
c.486-16839_486-16838delinsTG (n.486-16839_486-16838delinsTG)
c.272_273delinsCA (p.Pro91=)
9g.36246360G>ACA373419745CLTA,GNEc.380C>T (p.Pro127Leu)
c.110C>T (p.Pro37Leu)
c.287C>T (p.Pro96Leu)
c.486-16838G>A (n.486-16838G>A)
c.272C>T (p.Pro91Leu)
9g.36246360G>CCA373419747CLTA,GNEc.380C>G (p.Pro127Arg)
c.110C>G (p.Pro37Arg)
c.287C>G (p.Pro96Arg)
c.486-16838G>C (n.486-16838G>C)
c.272C>G (p.Pro91Arg)
9g.36246360G>TCA373419746CLTA,GNEc.380C>A (p.Pro127Gln)
c.110C>A (p.Pro37Gln)
c.287C>A (p.Pro96Gln)
c.486-16838G>T (n.486-16838G>T)
c.272C>A (p.Pro91Gln)
9g.36246361delCA863602855CLTA,GNEc.380del (p.Pro127GlnfsTer7)
c.110del (p.Pro37GlnfsTer7)
c.287del (p.Pro96GlnfsTer7)
c.486-16837del (n.486-16837del)
c.272del (p.Pro91GlnfsTer7)
 dbSNP
9g.36246361G>ACA373419748CLTA,GNEc.379C>T (p.Pro127Ser)
c.109C>T (p.Pro37Ser)
c.286C>T (p.Pro96Ser)
c.486-16837G>A (n.486-16837G>A)
c.271C>T (p.Pro91Ser)
9g.36246361G>CCA373419749CLTA,GNEc.379C>G (p.Pro127Ala)
c.109C>G (p.Pro37Ala)
c.286C>G (p.Pro96Ala)
c.486-16837G>C (n.486-16837G>C)
c.271C>G (p.Pro91Ala)
9g.36246361G>TCA373419750CLTA,GNEc.379C>A (p.Pro127Thr)
c.109C>A (p.Pro37Thr)
c.286C>A (p.Pro96Thr)
c.486-16837G>T (n.486-16837G>T)
c.271C>A (p.Pro91Thr)
9g.36246362C>ACA464620047CLTA,GNEc.378G>T (p.Leu126=)
c.108G>T (p.Leu36=)
c.285G>T (p.Leu95=)
c.486-16836C>A (n.486-16836C>A)
c.270G>T (p.Leu90=)
9g.36246362C=CA1846321042CLTA,GNEc.378G= (p.Leu126=)
c.108G= (p.Leu36=)
c.285G= (p.Leu95=)
c.486-16836C= (n.486-16836C=)
c.270G= (p.Leu90=)
9g.36246362C>GCA464620049CLTA,GNEc.378G>C (p.Leu126=)
c.108G>C (p.Leu36=)
c.285G>C (p.Leu95=)
c.486-16836C>G (n.486-16836C>G)
c.270G>C (p.Leu90=)
9g.36246362C>TCA464620050CLTA,GNEc.378G>A (p.Leu126=)
c.108G>A (p.Leu36=)
c.285G>A (p.Leu95=)
c.486-16836C>T (n.486-16836C>T)
c.270G>A (p.Leu90=)
 dbSNP gnomAD v3 gnomAD v4
9g.36246363A>CCA373419751CLTA,GNEc.377T>G (p.Leu126Arg)
c.107T>G (p.Leu36Arg)
c.284T>G (p.Leu95Arg)
c.486-16835A>C (n.486-16835A>C)
c.269T>G (p.Leu90Arg)
9g.36246363A>GCA373419752CLTA,GNEc.377T>C (p.Leu126Pro)
c.107T>C (p.Leu36Pro)
c.284T>C (p.Leu95Pro)
c.486-16835A>G (n.486-16835A>G)
c.269T>C (p.Leu90Pro)
 gnomAD v4
9g.36246363A>TCA373419753CLTA,GNEc.377T>A (p.Leu126Gln)
c.107T>A (p.Leu36Gln)
c.284T>A (p.Leu95Gln)
c.486-16835A>T (n.486-16835A>T)
c.269T>A (p.Leu90Gln)
9g.36246364G>ACA464620055CLTA,GNEc.376C>T (p.Leu126=)
c.106C>T (p.Leu36=)
c.283C>T (p.Leu95=)
c.486-16834G>A (n.486-16834G>A)
c.268C>T (p.Leu90=)
9g.36246364G>CCA373419754CLTA,GNEc.376C>G (p.Leu126Val)
c.106C>G (p.Leu36Val)
c.283C>G (p.Leu95Val)
c.486-16834G>C (n.486-16834G>C)
c.268C>G (p.Leu90Val)
9g.36246364G=CA1846321044CLTA,GNEc.376C= (p.Leu126=)
c.106C= (p.Leu36=)
c.283C= (p.Leu95=)
c.486-16834G= (n.486-16834G=)
c.268C= (p.Leu90=)
9g.36246364G>TCA5056741CLTA,GNEc.376C>A (p.Leu126Met)
c.106C>A (p.Leu36Met)
c.283C>A (p.Leu95Met)
c.486-16834G>T (n.486-16834G>T)
c.268C>A (p.Leu90Met)
 dbSNP ExAC gnomAD v2
9g.36246365C>ACA373419755CLTA,GNEc.375G>T (p.Lys125Asn)
c.105G>T (p.Lys35Asn)
c.282G>T (p.Lys94Asn)
c.486-16833C>A (n.486-16833C>A)
c.267G>T (p.Lys89Asn)
9g.36246365C>GCA373419756CLTA,GNEc.375G>C (p.Lys125Asn)
c.105G>C (p.Lys35Asn)
c.282G>C (p.Lys94Asn)
c.486-16833C>G (n.486-16833C>G)
c.267G>C (p.Lys89Asn)
9g.36246365C>TCA464620058CLTA,GNEc.375G>A (p.Lys125=)
c.105G>A (p.Lys35=)
c.282G>A (p.Lys94=)
c.486-16833C>T (n.486-16833C>T)
c.267G>A (p.Lys89=)
9g.36246366T>ACA373419759CLTA,GNEc.374A>T (p.Lys125Met)
c.104A>T (p.Lys35Met)
c.281A>T (p.Lys94Met)
c.486-16832T>A (n.486-16832T>A)
c.266A>T (p.Lys89Met)
9g.36246366T>CCA373419757CLTA,GNEc.374A>G (p.Lys125Arg)
c.104A>G (p.Lys35Arg)
c.281A>G (p.Lys94Arg)
c.486-16832T>C (n.486-16832T>C)
c.266A>G (p.Lys89Arg)
9g.36246366T>GCA373419758CLTA,GNEc.374A>C (p.Lys125Thr)
c.104A>C (p.Lys35Thr)
c.281A>C (p.Lys94Thr)
c.486-16832T>G (n.486-16832T>G)
c.266A>C (p.Lys89Thr)
9g.36246367T>ACA373419760CLTA,GNEc.373A>T (p.Lys125Ter)
c.103A>T (p.Lys35Ter)
c.280A>T (p.Lys94Ter)
c.486-16831T>A (n.486-16831T>A)
c.265A>T (p.Lys89Ter)
9g.36246367T>CCA373419761CLTA,GNEc.373A>G (p.Lys125Glu)
c.103A>G (p.Lys35Glu)
c.280A>G (p.Lys94Glu)
c.486-16831T>C (n.486-16831T>C)
c.265A>G (p.Lys89Glu)
9g.36246367T>GCA373419762CLTA,GNEc.373A>C (p.Lys125Gln)
c.103A>C (p.Lys35Gln)
c.280A>C (p.Lys94Gln)
c.486-16831T>G (n.486-16831T>G)
c.265A>C (p.Lys89Gln)
9g.36246368C>ACA464620063CLTA,GNEc.372G>T (p.Val124=)
c.102G>T (p.Val34=)
c.279G>T (p.Val93=)
c.486-16830C>A (n.486-16830C>A)
c.264G>T (p.Val88=)
9g.36246368C>GCA464620064CLTA,GNEc.372G>C (p.Val124=)
c.102G>C (p.Val34=)
c.279G>C (p.Val93=)
c.486-16830C>G (n.486-16830C>G)
c.264G>C (p.Val88=)
9g.36246368C>TCA464620066CLTA,GNEc.372G>A (p.Val124=)
c.102G>A (p.Val34=)
c.279G>A (p.Val93=)
c.486-16830C>T (n.486-16830C>T)
c.264G>A (p.Val88=)
9g.36246369A>CCA373419763CLTA,GNEc.371T>G (p.Val124Gly)
c.101T>G (p.Val34Gly)
c.278T>G (p.Val93Gly)
c.486-16829A>C (n.486-16829A>C)
c.263T>G (p.Val88Gly)
9g.36246369A>GCA373419764CLTA,GNEc.371T>C (p.Val124Ala)
c.101T>C (p.Val34Ala)
c.278T>C (p.Val93Ala)
c.486-16829A>G (n.486-16829A>G)
c.263T>C (p.Val88Ala)
9g.36246369A>TCA373419765CLTA,GNEc.371T>A (p.Val124Glu)
c.101T>A (p.Val34Glu)
c.278T>A (p.Val93Glu)
c.486-16829A>T (n.486-16829A>T)
c.263T>A (p.Val88Glu)
9g.36246370C>ACA373419766CLTA,GNEc.370G>T (p.Val124Leu)
c.100G>T (p.Val34Leu)
c.277G>T (p.Val93Leu)
c.486-16828C>A (n.486-16828C>A)
c.262G>T (p.Val88Leu)
9g.36246370C>GCA373419767CLTA,GNEc.370G>C (p.Val124Leu)
c.100G>C (p.Val34Leu)
c.277G>C (p.Val93Leu)
c.486-16828C>G (n.486-16828C>G)
c.262G>C (p.Val88Leu)
9g.36246370C>TCA373419768CLTA,GNEc.370G>A (p.Val124Met)
c.100G>A (p.Val34Met)
c.277G>A (p.Val93Met)
c.486-16828C>T (n.486-16828C>T)
c.262G>A (p.Val88Met)
 gnomAD v4
9g.36246371T>ACA464620068CLTA,GNEc.369A>T (p.Leu123=)
c.99A>T (p.Leu33=)
c.276A>T (p.Leu92=)
c.486-16827T>A (n.486-16827T>A)
c.261A>T (p.Leu87=)
 gnomAD v3 gnomAD v4
9g.36246371T>CCA464620071CLTA,GNEc.369A>G (p.Leu123=)
c.99A>G (p.Leu33=)
c.276A>G (p.Leu92=)
c.486-16827T>C (n.486-16827T>C)
c.261A>G (p.Leu87=)
 gnomAD v4
9g.36246371T>GCA5056742CLTA,GNEc.369A>C (p.Leu123=)
c.99A>C (p.Leu33=)
c.276A>C (p.Leu92=)
c.486-16827T>G (n.486-16827T>G)
c.261A>C (p.Leu87=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246371T=CA1846321047CLTA,GNEc.369A= (p.Leu123=)
c.99A= (p.Leu33=)
c.276A= (p.Leu92=)
c.486-16827T= (n.486-16827T=)
c.261A= (p.Leu87=)
9g.36246372A>CCA373419770CLTA,GNEc.368T>G (p.Leu123Arg)
c.98T>G (p.Leu33Arg)
c.275T>G (p.Leu92Arg)
c.486-16826A>C (n.486-16826A>C)
c.260T>G (p.Leu87Arg)
9g.36246372A>GCA373419771CLTA,GNEc.368T>C (p.Leu123Pro)
c.98T>C (p.Leu33Pro)
c.275T>C (p.Leu92Pro)
c.486-16826A>G (n.486-16826A>G)
c.260T>C (p.Leu87Pro)
 gnomAD v4
9g.36246372A>TCA373419769CLTA,GNEc.368T>A (p.Leu123Gln)
c.98T>A (p.Leu33Gln)
c.275T>A (p.Leu92Gln)
c.486-16826A>T (n.486-16826A>T)
c.260T>A (p.Leu87Gln)
9g.36246373G>ACA464620075CLTA,GNEc.367C>T (p.Leu123=)
c.97C>T (p.Leu33=)
c.274C>T (p.Leu92=)
c.486-16825G>A (n.486-16825G>A)
c.259C>T (p.Leu87=)
9g.36246373G>CCA373419772CLTA,GNEc.367C>G (p.Leu123Val)
c.97C>G (p.Leu33Val)
c.274C>G (p.Leu92Val)
c.486-16825G>C (n.486-16825G>C)
c.259C>G (p.Leu87Val)
9g.36246373G>TCA373419773CLTA,GNEc.367C>A (p.Leu123Ile)
c.97C>A (p.Leu33Ile)
c.274C>A (p.Leu92Ile)
c.486-16825G>T (n.486-16825G>T)
c.259C>A (p.Leu87Ile)
 ClinVar
9g.36246374G>ACA464620076CLTA,GNEc.366C>T (p.Ala122=)
c.96C>T (p.Ala32=)
c.273C>T (p.Ala91=)
c.486-16824G>A (n.486-16824G>A)
c.258C>T (p.Ala86=)
 gnomAD v4
9g.36246374G>CCA464620077CLTA,GNEc.366C>G (p.Ala122=)
c.96C>G (p.Ala32=)
c.273C>G (p.Ala91=)
c.486-16824G>C (n.486-16824G>C)
c.258C>G (p.Ala86=)
9g.36246374G>TCA464620078CLTA,GNEc.366C>A (p.Ala122=)
c.96C>A (p.Ala32=)
c.273C>A (p.Ala91=)
c.486-16824G>T (n.486-16824G>T)
c.258C>A (p.Ala86=)
9g.36246375G>ACA373419774CLTA,GNEc.365C>T (p.Ala122Val)
c.95C>T (p.Ala32Val)
c.272C>T (p.Ala91Val)
c.486-16823G>A (n.486-16823G>A)
c.257C>T (p.Ala86Val)
9g.36246375G>CCA373419775CLTA,GNEc.365C>G (p.Ala122Gly)
c.95C>G (p.Ala32Gly)
c.272C>G (p.Ala91Gly)
c.486-16823G>C (n.486-16823G>C)
c.257C>G (p.Ala86Gly)
9g.36246375G>TCA373419776CLTA,GNEc.365C>A (p.Ala122Asp)
c.95C>A (p.Ala32Asp)
c.272C>A (p.Ala91Asp)
c.486-16823G>T (n.486-16823G>T)
c.257C>A (p.Ala86Asp)
 gnomAD v4
9g.36246376C>ACA373419779CLTA,GNEc.364G>T (p.Ala122Ser)
c.94G>T (p.Ala32Ser)
c.271G>T (p.Ala91Ser)
c.486-16822C>A (n.486-16822C>A)
c.256G>T (p.Ala86Ser)
9g.36246376C>GCA373419777CLTA,GNEc.364G>C (p.Ala122Pro)
c.94G>C (p.Ala32Pro)
c.271G>C (p.Ala91Pro)
c.486-16822C>G (n.486-16822C>G)
c.256G>C (p.Ala86Pro)
9g.36246376C>TCA373419778CLTA,GNEc.364G>A (p.Ala122Thr)
c.94G>A (p.Ala32Thr)
c.271G>A (p.Ala91Thr)
c.486-16822C>T (n.486-16822C>T)
c.256G>A (p.Ala86Thr)
9g.36246377C>ACA464620084CLTA,GNEc.363G>T (p.Leu121=)
c.93G>T (p.Leu31=)
c.270G>T (p.Leu90=)
c.486-16821C>A (n.486-16821C>A)
c.255G>T (p.Leu85=)
9g.36246377C>GCA464620083CLTA,GNEc.363G>C (p.Leu121=)
c.93G>C (p.Leu31=)
c.270G>C (p.Leu90=)
c.486-16821C>G (n.486-16821C>G)
c.255G>C (p.Leu85=)
9g.36246377C>TCA464620082CLTA,GNEc.363G>A (p.Leu121=)
c.93G>A (p.Leu31=)
c.270G>A (p.Leu90=)
c.486-16821C>T (n.486-16821C>T)
c.255G>A (p.Leu85=)
9g.36246378A=CA1846321051CLTA,GNEc.362T= (p.Leu121=)
c.92T= (p.Leu31=)
c.269T= (p.Leu90=)
c.486-16820A= (n.486-16820A=)
c.254T= (p.Leu85=)
9g.36246378A>CCA373419780CLTA,GNEc.362T>G (p.Leu121Arg)
c.92T>G (p.Leu31Arg)
c.269T>G (p.Leu90Arg)
c.486-16820A>C (n.486-16820A>C)
c.254T>G (p.Leu85Arg)
9g.36246378A>GCA373419781CLTA,GNEc.362T>C (p.Leu121Pro)
c.92T>C (p.Leu31Pro)
c.269T>C (p.Leu90Pro)
c.486-16820A>G (n.486-16820A>G)
c.254T>C (p.Leu85Pro)
 dbSNP
9g.36246378A>TCA373419782CLTA,GNEc.362T>A (p.Leu121Gln)
c.92T>A (p.Leu31Gln)
c.269T>A (p.Leu90Gln)
c.486-16820A>T (n.486-16820A>T)
c.254T>A (p.Leu85Gln)
9g.36246379G>ACA464620086CLTA,GNEc.361C>T (p.Leu121=)
c.91C>T (p.Leu31=)
c.268C>T (p.Leu90=)
c.486-16819G>A (n.486-16819G>A)
c.253C>T (p.Leu85=)
9g.36246379G>CCA373419783CLTA,GNEc.361C>G (p.Leu121Val)
c.91C>G (p.Leu31Val)
c.268C>G (p.Leu90Val)
c.486-16819G>C (n.486-16819G>C)
c.253C>G (p.Leu85Val)
9g.36246379G>TCA373419784CLTA,GNEc.361C>A (p.Leu121Met)
c.91C>A (p.Leu31Met)
c.268C>A (p.Leu90Met)
c.486-16819G>T (n.486-16819G>T)
c.253C>A (p.Leu85Met)
9g.36246380G>ACA464620087CLTA,GNEc.360C>T (p.Gly120=)
c.90C>T (p.Gly30=)
c.267C>T (p.Gly89=)
c.486-16818G>A (n.486-16818G>A)
c.252C>T (p.Gly84=)
 ClinVar
9g.36246380G>CCA464620088CLTA,GNEc.360C>G (p.Gly120=)
c.90C>G (p.Gly30=)
c.267C>G (p.Gly89=)
c.486-16818G>C (n.486-16818G>C)
c.252C>G (p.Gly84=)
 ClinVar gnomAD v4
9g.36246380G>TCA464620089CLTA,GNEc.360C>A (p.Gly120=)
c.90C>A (p.Gly30=)
c.267C>A (p.Gly89=)
c.486-16818G>T (n.486-16818G>T)
c.252C>A (p.Gly84=)
9g.36246381C>ACA373419785CLTA,GNEc.359G>T (p.Gly120Val)
c.89G>T (p.Gly30Val)
c.266G>T (p.Gly89Val)
c.486-16817C>A (n.486-16817C>A)
c.251G>T (p.Gly84Val)
 gnomAD v4
9g.36246381C>GCA373419787CLTA,GNEc.359G>C (p.Gly120Ala)
c.89G>C (p.Gly30Ala)
c.266G>C (p.Gly89Ala)
c.486-16817C>G (n.486-16817C>G)
c.251G>C (p.Gly84Ala)
9g.36246381C>TCA373419786CLTA,GNEc.359G>A (p.Gly120Asp)
c.89G>A (p.Gly30Asp)
c.266G>A (p.Gly89Asp)
c.486-16817C>T (n.486-16817C>T)
c.251G>A (p.Gly84Asp)
9g.36246382C>ACA373419788CLTA,GNEc.358G>T (p.Gly120Cys)
c.88G>T (p.Gly30Cys)
c.265G>T (p.Gly89Cys)
c.486-16816C>A (n.486-16816C>A)
c.250G>T (p.Gly84Cys)
9g.36246382C=CA1846321055CLTA,GNEc.358G= (p.Gly120=)
c.88G= (p.Gly30=)
c.265G= (p.Gly89=)
c.486-16816C= (n.486-16816C=)
c.250G= (p.Gly84=)
9g.36246382C>GCA373419789CLTA,GNEc.358G>C (p.Gly120Arg)
c.88G>C (p.Gly30Arg)
c.265G>C (p.Gly89Arg)
c.486-16816C>G (n.486-16816C>G)
c.250G>C (p.Gly84Arg)
9g.36246382C>TCA373419790CLTA,GNEc.358G>A (p.Gly120Ser)
c.88G>A (p.Gly30Ser)
c.265G>A (p.Gly89Ser)
c.486-16816C>T (n.486-16816C>T)
c.250G>A (p.Gly84Ser)
 ClinVar dbSNP gnomAD v4
9g.36246383T>ACA464620093CLTA,GNEc.357A>T (p.Val119=)
c.87A>T (p.Val29=)
c.264A>T (p.Val88=)
c.486-16815T>A (n.486-16815T>A)
c.249A>T (p.Val83=)
9g.36246383T>CCA464620094CLTA,GNEc.357A>G (p.Val119=)
c.87A>G (p.Val29=)
c.264A>G (p.Val88=)
c.486-16815T>C (n.486-16815T>C)
c.249A>G (p.Val83=)
9g.36246383T>GCA464620095CLTA,GNEc.357A>C (p.Val119=)
c.87A>C (p.Val29=)
c.264A>C (p.Val88=)
c.486-16815T>G (n.486-16815T>G)
c.249A>C (p.Val83=)
9g.36246384A>CCA373419791CLTA,GNEc.356T>G (p.Val119Gly)
c.86T>G (p.Val29Gly)
c.263T>G (p.Val88Gly)
c.486-16814A>C (n.486-16814A>C)
c.248T>G (p.Val83Gly)
9g.36246384A>GCA373419792CLTA,GNEc.356T>C (p.Val119Ala)
c.86T>C (p.Val29Ala)
c.263T>C (p.Val88Ala)
c.486-16814A>G (n.486-16814A>G)
c.248T>C (p.Val83Ala)
9g.36246384A>TCA373419793CLTA,GNEc.356T>A (p.Val119Glu)
c.86T>A (p.Val29Glu)
c.263T>A (p.Val88Glu)
c.486-16814A>T (n.486-16814A>T)
c.248T>A (p.Val83Glu)
9g.36246385C>ACA373419794CLTA,GNEc.355G>T (p.Val119Leu)
c.85G>T (p.Val29Leu)
c.262G>T (p.Val88Leu)
c.486-16813C>A (n.486-16813C>A)
c.247G>T (p.Val83Leu)
9g.36246385C>GCA373419795CLTA,GNEc.355G>C (p.Val119Leu)
c.85G>C (p.Val29Leu)
c.262G>C (p.Val88Leu)
c.486-16813C>G (n.486-16813C>G)
c.247G>C (p.Val83Leu)
9g.36246385C>TCA373419796CLTA,GNEc.355G>A (p.Val119Ile)
c.85G>A (p.Val29Ile)
c.262G>A (p.Val88Ile)
c.486-16813C>T (n.486-16813C>T)
c.247G>A (p.Val83Ile)
 gnomAD v4
9g.36246386T>ACA464620096CLTA,GNEc.354A>T (p.Ser118=)
c.84A>T (p.Ser28=)
c.261A>T (p.Ser87=)
c.486-16812T>A (n.486-16812T>A)
c.246A>T (p.Ser82=)
9g.36246386T>CCA464620097CLTA,GNEc.354A>G (p.Ser118=)
c.84A>G (p.Ser28=)
c.261A>G (p.Ser87=)
c.486-16812T>C (n.486-16812T>C)
c.246A>G (p.Ser82=)
9g.36246386T>GCA464620098CLTA,GNEc.354A>C (p.Ser118=)
c.84A>C (p.Ser28=)
c.261A>C (p.Ser87=)
c.486-16812T>G (n.486-16812T>G)
c.246A>C (p.Ser82=)
9g.36246387G>ACA373419797CLTA,GNEc.353C>T (p.Ser118Leu)
c.83C>T (p.Ser28Leu)
c.260C>T (p.Ser87Leu)
c.486-16811G>A (n.486-16811G>A)
c.245C>T (p.Ser82Leu)
9g.36246387G>CCA373419798CLTA,GNEc.353C>G (p.Ser118Ter)
c.83C>G (p.Ser28Ter)
c.260C>G (p.Ser87Ter)
c.486-16811G>C (n.486-16811G>C)
c.245C>G (p.Ser82Ter)
 gnomAD v4
9g.36246387G>TCA373419799CLTA,GNEc.353C>A (p.Ser118Ter)
c.83C>A (p.Ser28Ter)
c.260C>A (p.Ser87Ter)
c.486-16811G>T (n.486-16811G>T)
c.245C>A (p.Ser82Ter)
9g.36246388A>CCA373419801CLTA,GNEc.352T>G (p.Ser118Ala)
c.82T>G (p.Ser28Ala)
c.259T>G (p.Ser87Ala)
c.486-16810A>C (n.486-16810A>C)
c.244T>G (p.Ser82Ala)
9g.36246388A>GCA373419802CLTA,GNEc.352T>C (p.Ser118Pro)
c.82T>C (p.Ser28Pro)
c.259T>C (p.Ser87Pro)
c.486-16810A>G (n.486-16810A>G)
c.244T>C (p.Ser82Pro)
9g.36246388A>TCA373419800CLTA,GNEc.352T>A (p.Ser118Thr)
c.82T>A (p.Ser28Thr)
c.259T>A (p.Ser87Thr)
c.486-16810A>T (n.486-16810A>T)
c.244T>A (p.Ser82Thr)
9g.36246389C>ACA373419804CLTA,GNEc.351G>T (p.Glu117Asp)
c.81G>T (p.Glu27Asp)
c.258G>T (p.Glu86Asp)
c.486-16809C>A (n.486-16809C>A)
c.243G>T (p.Glu81Asp)
9g.36246389C>GCA373419803CLTA,GNEc.351G>C (p.Glu117Asp)
c.81G>C (p.Glu27Asp)
c.258G>C (p.Glu86Asp)
c.486-16809C>G (n.486-16809C>G)
c.243G>C (p.Glu81Asp)
 gnomAD v4
9g.36246389C>TCA464620104CLTA,GNEc.351G>A (p.Glu117=)
c.81G>A (p.Glu27=)
c.258G>A (p.Glu86=)
c.486-16809C>T (n.486-16809C>T)
c.243G>A (p.Glu81=)
9g.36246390T>ACA373419805CLTA,GNEc.350A>T (p.Glu117Val)
c.80A>T (p.Glu27Val)
c.257A>T (p.Glu86Val)
c.486-16808T>A (n.486-16808T>A)
c.242A>T (p.Glu81Val)
9g.36246390T>CCA373419806CLTA,GNEc.350A>G (p.Glu117Gly)
c.80A>G (p.Glu27Gly)
c.257A>G (p.Glu86Gly)
c.486-16808T>C (n.486-16808T>C)
c.242A>G (p.Glu81Gly)
9g.36246390T>GCA373419807CLTA,GNEc.350A>C (p.Glu117Ala)
c.80A>C (p.Glu27Ala)
c.257A>C (p.Glu86Ala)
c.486-16808T>G (n.486-16808T>G)
c.242A>C (p.Glu81Ala)
 ClinVar dbSNP
9g.36246391C>ACA373419808CLTA,GNEc.349G>T (p.Glu117Ter)
c.79G>T (p.Glu27Ter)
c.256G>T (p.Glu86Ter)
c.486-16807C>A (n.486-16807C>A)
c.241G>T (p.Glu81Ter)
9g.36246391C>GCA373419809CLTA,GNEc.349G>C (p.Glu117Gln)
c.79G>C (p.Glu27Gln)
c.256G>C (p.Glu86Gln)
c.486-16807C>G (n.486-16807C>G)
c.241G>C (p.Glu81Gln)
9g.36246391C>TCA373419810CLTA,GNEc.349G>A (p.Glu117Lys)
c.79G>A (p.Glu27Lys)
c.256G>A (p.Glu86Lys)
c.486-16807C>T (n.486-16807C>T)
c.241G>A (p.Glu81Lys)
9g.36246392C>ACA464620106CLTA,GNEc.348G>T (p.Val116=)
c.78G>T (p.Val26=)
c.255G>T (p.Val85=)
c.486-16806C>A (n.486-16806C>A)
c.240G>T (p.Val80=)
9g.36246392C>GCA464620107CLTA,GNEc.348G>C (p.Val116=)
c.78G>C (p.Val26=)
c.255G>C (p.Val85=)
c.486-16806C>G (n.486-16806C>G)
c.240G>C (p.Val80=)
9g.36246392C>TCA464620108CLTA,GNEc.348G>A (p.Val116=)
c.78G>A (p.Val26=)
c.255G>A (p.Val85=)
c.486-16806C>T (n.486-16806C>T)
c.240G>A (p.Val80=)
 ClinVar dbSNP
9g.36246393A=CA1846321064CLTA,GNEc.347T= (p.Val116=)
c.77T= (p.Val26=)
c.254T= (p.Val85=)
c.486-16805A= (n.486-16805A=)
c.239T= (p.Val80=)
9g.36246393A>CCA373419811CLTA,GNEc.347T>G (p.Val116Gly)
c.77T>G (p.Val26Gly)
c.254T>G (p.Val85Gly)
c.486-16805A>C (n.486-16805A>C)
c.239T>G (p.Val80Gly)
 dbSNP
9g.36246393A>GCA373419812CLTA,GNEc.347T>C (p.Val116Ala)
c.77T>C (p.Val26Ala)
c.254T>C (p.Val85Ala)
c.486-16805A>G (n.486-16805A>G)
c.239T>C (p.Val80Ala)
9g.36246393A>TCA373419813CLTA,GNEc.347T>A (p.Val116Glu)
c.77T>A (p.Val26Glu)
c.254T>A (p.Val85Glu)
c.486-16805A>T (n.486-16805A>T)
c.239T>A (p.Val80Glu)
9g.36246394C>ACA373419814CLTA,GNEc.346G>T (p.Val116Leu)
c.76G>T (p.Val26Leu)
c.253G>T (p.Val85Leu)
c.486-16804C>A (n.486-16804C>A)
c.238G>T (p.Val80Leu)
9g.36246394C=CA1846321069CLTA,GNEc.346G= (p.Val116=)
c.76G= (p.Val26=)
c.253G= (p.Val85=)
c.486-16804C= (n.486-16804C=)
c.238G= (p.Val80=)
9g.36246394C>GCA373419815CLTA,GNEc.346G>C (p.Val116Leu)
c.76G>C (p.Val26Leu)
c.253G>C (p.Val85Leu)
c.486-16804C>G (n.486-16804C>G)
c.238G>C (p.Val80Leu)
9g.36246394C>TCA373419816CLTA,GNEc.346G>A (p.Val116Met)
c.76G>A (p.Val26Met)
c.253G>A (p.Val85Met)
c.486-16804C>T (n.486-16804C>T)
c.238G>A (p.Val80Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246395C>ACA373419819CLTA,GNEc.345G>T (p.Met115Ile)
c.75G>T (p.Met25Ile)
c.252G>T (p.Met84Ile)
c.486-16803C>A (n.486-16803C>A)
c.237G>T (p.Met79Ile)
9g.36246395C>GCA373419817CLTA,GNEc.345G>C (p.Met115Ile)
c.75G>C (p.Met25Ile)
c.252G>C (p.Met84Ile)
c.486-16803C>G (n.486-16803C>G)
c.237G>C (p.Met79Ile)
9g.36246395C>TCA373419818CLTA,GNEc.345G>A (p.Met115Ile)
c.75G>A (p.Met25Ile)
c.252G>A (p.Met84Ile)
c.486-16803C>T (n.486-16803C>T)
c.237G>A (p.Met79Ile)
9g.36246396A>CCA373419820CLTA,GNEc.344T>G (p.Met115Arg)
c.74T>G (p.Met25Arg)
c.251T>G (p.Met84Arg)
c.486-16802A>C (n.486-16802A>C)
c.236T>G (p.Met79Arg)
9g.36246396A>GCA373419821CLTA,GNEc.344T>C (p.Met115Thr)
c.74T>C (p.Met25Thr)
c.251T>C (p.Met84Thr)
c.486-16802A>G (n.486-16802A>G)
c.236T>C (p.Met79Thr)
9g.36246396A>TCA373419822CLTA,GNEc.344T>A (p.Met115Lys)
c.74T>A (p.Met25Lys)
c.251T>A (p.Met84Lys)
c.486-16802A>T (n.486-16802A>T)
c.236T>A (p.Met79Lys)
9g.36246397T>ACA373419823CLTA,GNEc.343A>T (p.Met115Leu)
c.73A>T (p.Met25Leu)
c.250A>T (p.Met84Leu)
c.486-16801T>A (n.486-16801T>A)
c.235A>T (p.Met79Leu)
9g.36246397T>CCA373419824CLTA,GNEc.343A>G (p.Met115Val)
c.73A>G (p.Met25Val)
c.250A>G (p.Met84Val)
c.486-16801T>C (n.486-16801T>C)
c.235A>G (p.Met79Val)
 gnomAD v4
9g.36246397T>GCA373419825CLTA,GNEc.343A>C (p.Met115Leu)
c.73A>C (p.Met25Leu)
c.250A>C (p.Met84Leu)
c.486-16801T>G (n.486-16801T>G)
c.235A>C (p.Met79Leu)

Number of alleles fetched