Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.113391534A>CCA374564939ALADc.254T>G (p.Val85Gly)
c.281T>G (p.Val94Gly)
n.258-601T>G
n.376T>G
n.527T>G
c.341T>G (p.Val114Gly)
c.380T>G (p.Val127Gly)
c.230T>G (p.Val77Gly)
n.754T>G
9g.113391534A>GCA374564941ALADc.254T>C (p.Val85Ala)
c.281T>C (p.Val94Ala)
n.258-601T>C
n.376T>C
n.527T>C
c.341T>C (p.Val114Ala)
c.380T>C (p.Val127Ala)
c.230T>C (p.Val77Ala)
n.754T>C
9g.113391534A>TCA374564943ALADc.254T>A (p.Val85Asp)
c.281T>A (p.Val94Asp)
n.258-601T>A
n.376T>A
n.527T>A
c.341T>A (p.Val114Asp)
c.380T>A (p.Val127Asp)
c.230T>A (p.Val77Asp)
n.754T>A
9g.113391535C>ACA374564945ALADc.253G>T (p.Val85Phe)
c.280G>T (p.Val94Phe)
n.258-602G>T
n.375G>T
n.526G>T
c.340G>T (p.Val114Phe)
c.379G>T (p.Val127Phe)
c.229G>T (p.Val77Phe)
n.753G>T
9g.113391535C>GCA374564947ALADc.253G>C (p.Val85Leu)
c.280G>C (p.Val94Leu)
n.258-602G>C
n.375G>C
n.526G>C
c.340G>C (p.Val114Leu)
c.379G>C (p.Val127Leu)
c.229G>C (p.Val77Leu)
n.753G>C
 gnomAD v4
9g.113391535C>TCA374564948ALADc.253G>A (p.Val85Ile)
c.280G>A (p.Val94Ile)
n.258-602G>A
n.375G>A
n.526G>A
c.340G>A (p.Val114Ile)
c.379G>A (p.Val127Ile)
c.229G>A (p.Val77Ile)
n.753G>A
 gnomAD v4
9g.113391536T>ACA374564950ALADc.252A>T (p.Arg84Ser)
c.279A>T (p.Arg93Ser)
n.258-603A>T
n.374A>T
n.525A>T
c.339A>T (p.Arg113Ser)
c.378A>T (p.Arg126Ser)
c.228A>T (p.Arg76Ser)
n.752A>T
9g.113391536T>CCA466758200ALADc.252A>G (p.Arg84=)
c.279A>G (p.Arg93=)
n.258-603A>G
n.374A>G
n.525A>G
c.339A>G (p.Arg113=)
c.378A>G (p.Arg126=)
c.228A>G (p.Arg76=)
n.752A>G
 gnomAD v4
9g.113391536T>GCA374564952ALADc.252A>C (p.Arg84Ser)
c.279A>C (p.Arg93Ser)
n.258-603A>C
n.374A>C
n.525A>C
c.339A>C (p.Arg113Ser)
c.378A>C (p.Arg126Ser)
c.228A>C (p.Arg76Ser)
n.752A>C
9g.113391537C>ACA374564954ALADc.251G>T (p.Arg84Ile)
c.278G>T (p.Arg93Ile)
n.258-604G>T
n.373G>T
n.524G>T
c.338G>T (p.Arg113Ile)
c.377G>T (p.Arg126Ile)
c.227G>T (p.Arg76Ile)
n.751G>T
9g.113391537C=CA1873366736ALADc.251G= (p.Arg84=)
c.278G= (p.Arg93=)
n.258-604G=
n.373G=
n.524G=
c.338G= (p.Arg113=)
c.377G= (p.Arg126=)
c.227G= (p.Arg76=)
n.751G=
9g.113391537C>GCA374564956ALADc.251G>C (p.Arg84Thr)
c.278G>C (p.Arg93Thr)
n.258-604G>C
n.373G>C
n.524G>C
c.338G>C (p.Arg113Thr)
c.377G>C (p.Arg126Thr)
c.227G>C (p.Arg76Thr)
n.751G>C
9g.113391537C>TCA5196565ALADc.251G>A (p.Arg84Lys)
c.278G>A (p.Arg93Lys)
n.258-604G>A
n.373G>A
n.524G>A
c.338G>A (p.Arg113Lys)
c.377G>A (p.Arg126Lys)
c.227G>A (p.Arg76Lys)
n.751G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391538T>ACA374564957ALADc.250A>T (p.Arg84Ter)
c.277A>T (p.Arg93Ter)
n.258-605A>T
n.372A>T
n.523A>T
c.337A>T (p.Arg113Ter)
c.376A>T (p.Arg126Ter)
c.226A>T (p.Arg76Ter)
n.750A>T
9g.113391538T>CCA374564959ALADc.250A>G (p.Arg84Gly)
c.277A>G (p.Arg93Gly)
n.258-605A>G
n.372A>G
n.523A>G
c.337A>G (p.Arg113Gly)
c.376A>G (p.Arg126Gly)
c.226A>G (p.Arg76Gly)
n.750A>G
9g.113391538T>GCA466758201ALADc.250A>C (p.Arg84=)
c.277A>C (p.Arg93=)
n.258-605A>C
n.372A>C
n.523A>C
c.337A>C (p.Arg113=)
c.376A>C (p.Arg126=)
c.226A>C (p.Arg76=)
n.750A>C
9g.113391539G>ACA466758202ALADc.249C>T (p.Ser83=)
c.276C>T (p.Ser92=)
n.258-606C>T
n.371C>T
n.522C>T
c.336C>T (p.Ser112=)
c.375C>T (p.Ser125=)
c.225C>T (p.Ser75=)
n.749C>T
 gnomAD v4
9g.113391539G>CCA374564962ALADc.249C>G (p.Ser83Arg)
c.276C>G (p.Ser92Arg)
n.258-606C>G
n.371C>G
n.522C>G
c.336C>G (p.Ser112Arg)
c.375C>G (p.Ser125Arg)
c.225C>G (p.Ser75Arg)
n.749C>G
9g.113391539G>TCA374564961ALADc.249C>A (p.Ser83Arg)
c.276C>A (p.Ser92Arg)
n.258-606C>A
n.371C>A
n.522C>A
c.336C>A (p.Ser112Arg)
c.375C>A (p.Ser125Arg)
c.225C>A (p.Ser75Arg)
n.749C>A
9g.113391540C>ACA374564965ALADc.248G>T (p.Ser83Ile)
c.275G>T (p.Ser92Ile)
n.258-607G>T
n.370G>T
n.521G>T
c.335G>T (p.Ser112Ile)
c.374G>T (p.Ser125Ile)
c.224G>T (p.Ser75Ile)
n.748G>T
9g.113391540C>GCA374564966ALADc.248G>C (p.Ser83Thr)
c.275G>C (p.Ser92Thr)
n.258-607G>C
n.370G>C
n.521G>C
c.335G>C (p.Ser112Thr)
c.374G>C (p.Ser125Thr)
c.224G>C (p.Ser75Thr)
n.748G>C
9g.113391540C>TCA374564968ALADc.248G>A (p.Ser83Asn)
c.275G>A (p.Ser92Asn)
n.258-607G>A
n.370G>A
n.521G>A
c.335G>A (p.Ser112Asn)
c.374G>A (p.Ser125Asn)
c.224G>A (p.Ser75Asn)
n.748G>A
 COSMIC COSMIC COSMIC
9g.113391541T>ACA374564970ALADc.247A>T (p.Ser83Cys)
c.274A>T (p.Ser92Cys)
n.258-608A>T
n.369A>T
n.520A>T
c.334A>T (p.Ser112Cys)
c.373A>T (p.Ser125Cys)
c.223A>T (p.Ser75Cys)
n.747A>T
9g.113391541T>CCA374564972ALADc.247A>G (p.Ser83Gly)
c.274A>G (p.Ser92Gly)
n.258-608A>G
n.369A>G
n.520A>G
c.334A>G (p.Ser112Gly)
c.373A>G (p.Ser125Gly)
c.223A>G (p.Ser75Gly)
n.747A>G
9g.113391541T>GCA374564973ALADc.247A>C (p.Ser83Arg)
c.274A>C (p.Ser92Arg)
n.258-608A>C
n.369A>C
n.520A>C
c.334A>C (p.Ser112Arg)
c.373A>C (p.Ser125Arg)
c.223A>C (p.Ser75Arg)
n.747A>C
9g.113391542G>ACA466758203ALADc.246C>T (p.Pro82=)
c.273C>T (p.Pro91=)
n.258-609C>T
n.368C>T
n.519C>T
c.333C>T (p.Pro111=)
c.372C>T (p.Pro124=)
c.222C>T (p.Pro74=)
n.746C>T
 gnomAD v4
9g.113391542G>CCA466758204ALADc.246C>G (p.Pro82=)
c.273C>G (p.Pro91=)
n.258-609C>G
n.368C>G
n.519C>G
c.333C>G (p.Pro111=)
c.372C>G (p.Pro124=)
c.222C>G (p.Pro74=)
n.746C>G
9g.113391542G>TCA466758205ALADc.246C>A (p.Pro82=)
c.273C>A (p.Pro91=)
n.258-609C>A
n.368C>A
n.519C>A
c.333C>A (p.Pro111=)
c.372C>A (p.Pro124=)
c.222C>A (p.Pro74=)
n.746C>A
9g.113391543G>ACA374564980ALADc.245C>T (p.Pro82Leu)
c.272C>T (p.Pro91Leu)
n.258-610C>T
n.367C>T
n.518C>T
c.332C>T (p.Pro111Leu)
c.371C>T (p.Pro124Leu)
c.221C>T (p.Pro74Leu)
n.745C>T
9g.113391543G>CCA374564978ALADc.245C>G (p.Pro82Arg)
c.272C>G (p.Pro91Arg)
n.258-610C>G
n.367C>G
n.518C>G
c.332C>G (p.Pro111Arg)
c.371C>G (p.Pro124Arg)
c.221C>G (p.Pro74Arg)
n.745C>G
9g.113391543G>TCA374564976ALADc.245C>A (p.Pro82His)
c.272C>A (p.Pro91His)
n.258-610C>A
n.367C>A
n.518C>A
c.332C>A (p.Pro111His)
c.371C>A (p.Pro124His)
c.221C>A (p.Pro74His)
n.745C>A
9g.113391544G>ACA374564983ALADc.244C>T (p.Pro82Ser)
c.271C>T (p.Pro91Ser)
n.258-611C>T
n.366C>T
n.517C>T
c.331C>T (p.Pro111Ser)
c.370C>T (p.Pro124Ser)
c.220C>T (p.Pro74Ser)
n.744C>T
 COSMIC COSMIC
9g.113391544G>CCA374564984ALADc.244C>G (p.Pro82Ala)
c.271C>G (p.Pro91Ala)
n.258-611C>G
n.366C>G
n.517C>G
c.331C>G (p.Pro111Ala)
c.370C>G (p.Pro124Ala)
c.220C>G (p.Pro74Ala)
n.744C>G
9g.113391544G>TCA374564986ALADc.244C>A (p.Pro82Thr)
c.271C>A (p.Pro91Thr)
n.258-611C>A
n.366C>A
n.517C>A
c.331C>A (p.Pro111Thr)
c.370C>A (p.Pro124Thr)
c.220C>A (p.Pro74Thr)
n.744C>A
9g.113391545G>ACA466758206ALADc.243C>T (p.Val81=)
c.270C>T (p.Val90=)
n.258-612C>T
n.365C>T
n.516C>T
c.330C>T (p.Val110=)
c.369C>T (p.Val123=)
c.219C>T (p.Val73=)
n.743C>T
 gnomAD v4
9g.113391545G>CCA466758207ALADc.243C>G (p.Val81=)
c.270C>G (p.Val90=)
n.258-612C>G
n.365C>G
n.516C>G
c.330C>G (p.Val110=)
c.369C>G (p.Val123=)
c.219C>G (p.Val73=)
n.743C>G
9g.113391545G>TCA466758208ALADc.243C>A (p.Val81=)
c.270C>A (p.Val90=)
n.258-612C>A
n.365C>A
n.516C>A
c.330C>A (p.Val110=)
c.369C>A (p.Val123=)
c.219C>A (p.Val73=)
n.743C>A
9g.113391546A>CCA374564987ALADc.242T>G (p.Val81Gly)
c.269T>G (p.Val90Gly)
n.258-613T>G
n.364T>G
n.515T>G
c.329T>G (p.Val110Gly)
c.368T>G (p.Val123Gly)
c.218T>G (p.Val73Gly)
n.742T>G
9g.113391546A>GCA374564988ALADc.242T>C (p.Val81Ala)
c.269T>C (p.Val90Ala)
n.258-613T>C
n.364T>C
n.515T>C
c.329T>C (p.Val110Ala)
c.368T>C (p.Val123Ala)
c.218T>C (p.Val73Ala)
n.742T>C
9g.113391546A>TCA374564989ALADc.242T>A (p.Val81Asp)
c.269T>A (p.Val90Asp)
n.258-613T>A
n.364T>A
n.515T>A
c.329T>A (p.Val110Asp)
c.368T>A (p.Val123Asp)
c.218T>A (p.Val73Asp)
n.742T>A
9g.113391547C>ACA374564991ALADc.241G>T (p.Val81Phe)
c.268G>T (p.Val90Phe)
n.258-614G>T
n.363G>T
n.514G>T
c.328G>T (p.Val110Phe)
c.367G>T (p.Val123Phe)
c.217G>T (p.Val73Phe)
n.741G>T
9g.113391547C=CA1873366737ALADc.241G= (p.Val81=)
c.268G= (p.Val90=)
n.258-614G=
n.363G=
n.514G=
c.328G= (p.Val110=)
c.367G= (p.Val123=)
c.217G= (p.Val73=)
n.741G=
9g.113391547C>GCA5196567ALADc.241G>C (p.Val81Leu)
c.268G>C (p.Val90Leu)
n.258-614G>C
n.363G>C
n.514G>C
c.328G>C (p.Val110Leu)
c.367G>C (p.Val123Leu)
c.217G>C (p.Val73Leu)
n.741G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.113391547C>TCA5196566ALADc.241G>A (p.Val81Ile)
c.268G>A (p.Val90Ile)
n.258-614G>A
n.363G>A
n.514G>A
c.328G>A (p.Val110Ile)
c.367G>A (p.Val123Ile)
c.217G>A (p.Val73Ile)
n.741G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391548G>ACA5196568ALADc.240C>T (p.Gly80=)
c.267C>T (p.Gly89=)
n.258-615C>T
n.362C>T
n.513C>T
c.327C>T (p.Gly109=)
c.366C>T (p.Gly122=)
c.216C>T (p.Gly72=)
n.740C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.113391548G>CCA466758210ALADc.240C>G (p.Gly80=)
c.267C>G (p.Gly89=)
n.258-615C>G
n.362C>G
n.513C>G
c.327C>G (p.Gly109=)
c.366C>G (p.Gly122=)
c.216C>G (p.Gly72=)
n.740C>G
 gnomAD v4
9g.113391548G=CA1873366738ALADc.240C= (p.Gly80=)
c.267C= (p.Gly89=)
n.258-615C=
n.362C=
n.513C=
c.327C= (p.Gly109=)
c.366C= (p.Gly122=)
c.216C= (p.Gly72=)
n.740C=
9g.113391548G>TCA466758209ALADc.240C>A (p.Gly80=)
c.267C>A (p.Gly89=)
n.258-615C>A
n.362C>A
n.513C>A
c.327C>A (p.Gly109=)
c.366C>A (p.Gly122=)
c.216C>A (p.Gly72=)
n.740C>A
 gnomAD v4
9g.113391549C>ACA374564996ALADc.239G>T (p.Gly80Val)
c.266G>T (p.Gly89Val)
n.258-616G>T
n.361G>T
n.512G>T
c.326G>T (p.Gly109Val)
c.365G>T (p.Gly122Val)
c.215G>T (p.Gly72Val)
n.739G>T
9g.113391549C>GCA374564998ALADc.239G>C (p.Gly80Ala)
c.266G>C (p.Gly89Ala)
n.258-616G>C
n.361G>C
n.512G>C
c.326G>C (p.Gly109Ala)
c.365G>C (p.Gly122Ala)
c.215G>C (p.Gly72Ala)
n.739G>C
9g.113391549C>TCA374565000ALADc.239G>A (p.Gly80Asp)
c.266G>A (p.Gly89Asp)
n.258-616G>A
n.361G>A
n.512G>A
c.326G>A (p.Gly109Asp)
c.365G>A (p.Gly122Asp)
c.215G>A (p.Gly72Asp)
n.739G>A
9g.113391550C>ACA374565002ALADc.238G>T (p.Gly80Cys)
c.265G>T (p.Gly89Cys)
n.258-617G>T
n.360G>T
n.511G>T
c.325G>T (p.Gly109Cys)
c.364G>T (p.Gly122Cys)
c.214G>T (p.Gly72Cys)
n.738G>T
9g.113391550C=CA1873366739ALADc.238G= (p.Gly80=)
c.265G= (p.Gly89=)
n.258-617G=
n.360G=
n.511G=
c.325G= (p.Gly109=)
c.364G= (p.Gly122=)
c.214G= (p.Gly72=)
n.738G=
9g.113391550C>GCA374565004ALADc.238G>C (p.Gly80Arg)
c.265G>C (p.Gly89Arg)
n.258-617G>C
n.360G>C
n.511G>C
c.325G>C (p.Gly109Arg)
c.364G>C (p.Gly122Arg)
c.214G>C (p.Gly72Arg)
n.738G>C
9g.113391550C>TCA374565006ALADc.238G>A (p.Gly80Ser)
c.265G>A (p.Gly89Ser)
n.258-617G>A
n.360G>A
n.511G>A
c.325G>A (p.Gly109Ser)
c.364G>A (p.Gly122Ser)
c.214G>A (p.Gly72Ser)
n.738G>A
 dbSNP
9g.113391551A=CA1873366740ALADc.237T= (p.Phe79=)
c.264T= (p.Phe88=)
n.258-618T=
n.359T=
n.510T=
c.324T= (p.Phe108=)
c.363T= (p.Phe121=)
c.213T= (p.Phe71=)
n.737T=
9g.113391551A>CCA374565008ALADc.237T>G (p.Phe79Leu)
c.264T>G (p.Phe88Leu)
n.258-618T>G
n.359T>G
n.510T>G
c.324T>G (p.Phe108Leu)
c.363T>G (p.Phe121Leu)
c.213T>G (p.Phe71Leu)
n.737T>G
9g.113391551A>GCA5196569ALADc.237T>C (p.Phe79=)
c.264T>C (p.Phe88=)
n.258-618T>C
n.359T>C
n.510T>C
c.324T>C (p.Phe108=)
c.363T>C (p.Phe121=)
c.213T>C (p.Phe71=)
n.737T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.113391551A>TCA374565011ALADc.237T>A (p.Phe79Leu)
c.264T>A (p.Phe88Leu)
n.258-618T>A
n.359T>A
n.510T>A
c.324T>A (p.Phe108Leu)
c.363T>A (p.Phe121Leu)
c.213T>A (p.Phe71Leu)
n.737T>A
9g.113391552A>CCA374565013ALADc.236T>G (p.Phe79Cys)
c.263T>G (p.Phe88Cys)
n.258-619T>G
n.358T>G
n.509T>G
c.323T>G (p.Phe108Cys)
c.362T>G (p.Phe121Cys)
c.212T>G (p.Phe71Cys)
n.736T>G
9g.113391552A>GCA374565015ALADc.236T>C (p.Phe79Ser)
c.263T>C (p.Phe88Ser)
n.258-619T>C
n.358T>C
n.509T>C
c.323T>C (p.Phe108Ser)
c.362T>C (p.Phe121Ser)
c.212T>C (p.Phe71Ser)
n.736T>C
9g.113391552A>TCA374565017ALADc.236T>A (p.Phe79Tyr)
c.263T>A (p.Phe88Tyr)
n.258-619T>A
n.358T>A
n.509T>A
c.323T>A (p.Phe108Tyr)
c.362T>A (p.Phe121Tyr)
c.212T>A (p.Phe71Tyr)
n.736T>A
9g.113391553A>CCA374565020ALADc.235T>G (p.Phe79Val)
c.262T>G (p.Phe88Val)
n.258-620T>G
n.357T>G
n.508T>G
c.322T>G (p.Phe108Val)
c.361T>G (p.Phe121Val)
c.211T>G (p.Phe71Val)
n.735T>G
9g.113391553A>GCA374565018ALADc.235T>C (p.Phe79Leu)
c.262T>C (p.Phe88Leu)
n.258-620T>C
n.357T>C
n.508T>C
c.322T>C (p.Phe108Leu)
c.361T>C (p.Phe121Leu)
c.211T>C (p.Phe71Leu)
n.735T>C
9g.113391553A>TCA374565019ALADc.235T>A (p.Phe79Ile)
c.262T>A (p.Phe88Ile)
n.258-620T>A
n.357T>A
n.508T>A
c.322T>A (p.Phe108Ile)
c.361T>A (p.Phe121Ile)
c.211T>A (p.Phe71Ile)
n.735T>A
9g.113391554G>ACA466758212ALADc.234C>T (p.Ile78=)
c.261C>T (p.Ile87=)
n.258-621C>T
n.356C>T
n.507C>T
c.321C>T (p.Ile107=)
c.360C>T (p.Ile120=)
c.210C>T (p.Ile70=)
n.734C>T
9g.113391554G>CCA374565023ALADc.234C>G (p.Ile78Met)
c.261C>G (p.Ile87Met)
n.258-621C>G
n.356C>G
n.507C>G
c.321C>G (p.Ile107Met)
c.360C>G (p.Ile120Met)
c.210C>G (p.Ile70Met)
n.734C>G
9g.113391554G>TCA466758211ALADc.234C>A (p.Ile78=)
c.261C>A (p.Ile87=)
n.258-621C>A
n.356C>A
n.507C>A
c.321C>A (p.Ile107=)
c.360C>A (p.Ile120=)
c.210C>A (p.Ile70=)
n.734C>A
9g.113391555A>CCA374565024ALADc.233T>G (p.Ile78Ser)
c.260T>G (p.Ile87Ser)
n.258-622T>G
n.355T>G
n.506T>G
c.320T>G (p.Ile107Ser)
c.359T>G (p.Ile120Ser)
c.209T>G (p.Ile70Ser)
n.733T>G
9g.113391555A>GCA374565026ALADc.233T>C (p.Ile78Thr)
c.260T>C (p.Ile87Thr)
n.258-622T>C
n.355T>C
n.506T>C
c.320T>C (p.Ile107Thr)
c.359T>C (p.Ile120Thr)
c.209T>C (p.Ile70Thr)
n.733T>C
9g.113391555A>TCA374565027ALADc.233T>A (p.Ile78Asn)
c.260T>A (p.Ile87Asn)
n.258-622T>A
n.355T>A
n.506T>A
c.320T>A (p.Ile107Asn)
c.359T>A (p.Ile120Asn)
c.209T>A (p.Ile70Asn)
n.733T>A
9g.113391556T>ACA374565028ALADc.232A>T (p.Ile78Phe)
c.259A>T (p.Ile87Phe)
n.258-623A>T
n.354A>T
n.505A>T
c.319A>T (p.Ile107Phe)
c.358A>T (p.Ile120Phe)
c.208A>T (p.Ile70Phe)
n.732A>T
9g.113391556T>CCA374565030ALADc.232A>G (p.Ile78Val)
c.259A>G (p.Ile87Val)
n.258-623A>G
n.354A>G
n.505A>G
c.319A>G (p.Ile107Val)
c.358A>G (p.Ile120Val)
c.208A>G (p.Ile70Val)
n.732A>G
9g.113391556T>GCA374565032ALADc.232A>C (p.Ile78Leu)
c.259A>C (p.Ile87Leu)
n.258-623A>C
n.354A>C
n.505A>C
c.319A>C (p.Ile107Leu)
c.358A>C (p.Ile120Leu)
c.208A>C (p.Ile70Leu)
n.732A>C
9g.113391557C>ACA374565034ALADc.231G>T (p.Leu77Phe)
c.258G>T (p.Leu86Phe)
n.258-624G>T
n.353G>T
n.504G>T
c.318G>T (p.Leu106Phe)
c.357G>T (p.Leu119Phe)
c.207G>T (p.Leu69Phe)
n.731G>T
 dbSNP
9g.113391557C=CA1873366741ALADc.231G= (p.Leu77=)
c.258G= (p.Leu86=)
n.258-624G=
n.353G=
n.504G=
c.318G= (p.Leu106=)
c.357G= (p.Leu119=)
c.207G= (p.Leu69=)
n.731G=
9g.113391557C>GCA374565036ALADc.231G>C (p.Leu77Phe)
c.258G>C (p.Leu86Phe)
n.258-624G>C
n.353G>C
n.504G>C
c.318G>C (p.Leu106Phe)
c.357G>C (p.Leu119Phe)
c.207G>C (p.Leu69Phe)
n.731G>C
9g.113391557C>TCA466758213ALADc.231G>A (p.Leu77=)
c.258G>A (p.Leu86=)
n.258-624G>A
n.353G>A
n.504G>A
c.318G>A (p.Leu106=)
c.357G>A (p.Leu119=)
c.207G>A (p.Leu69=)
n.731G>A
9g.113391558A>CCA374565038ALADc.230T>G (p.Leu77Trp)
c.257T>G (p.Leu86Trp)
n.258-625T>G
n.352T>G
n.503T>G
c.317T>G (p.Leu106Trp)
c.356T>G (p.Leu119Trp)
c.206T>G (p.Leu69Trp)
n.730T>G
9g.113391558A>GCA374565040ALADc.230T>C (p.Leu77Ser)
c.257T>C (p.Leu86Ser)
n.258-625T>C
n.352T>C
n.503T>C
c.317T>C (p.Leu106Ser)
c.356T>C (p.Leu119Ser)
c.206T>C (p.Leu69Ser)
n.730T>C
9g.113391558A>TCA374565042ALADc.230T>A (p.Leu77Ter)
c.257T>A (p.Leu86Ter)
n.258-625T>A
n.352T>A
n.503T>A
c.317T>A (p.Leu106Ter)
c.356T>A (p.Leu119Ter)
c.206T>A (p.Leu69Ter)
n.730T>A
9g.113391559A=CA1873366742ALADc.229T= (p.Leu77=)
c.256T= (p.Leu86=)
n.258-626T=
n.351T=
n.502T=
c.316T= (p.Leu106=)
c.355T= (p.Leu119=)
c.205T= (p.Leu69=)
n.729T=
9g.113391559A>CCA374565044ALADc.229T>G (p.Leu77Val)
c.256T>G (p.Leu86Val)
n.258-626T>G
n.351T>G
n.502T>G
c.316T>G (p.Leu106Val)
c.355T>G (p.Leu119Val)
c.205T>G (p.Leu69Val)
n.729T>G
9g.113391559A>GCA5196570ALADc.229T>C (p.Leu77=)
c.256T>C (p.Leu86=)
n.258-626T>C
n.351T>C
n.502T>C
c.316T>C (p.Leu106=)
c.355T>C (p.Leu119=)
c.205T>C (p.Leu69=)
n.729T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.113391559A>TCA374565046ALADc.229T>A (p.Leu77Met)
c.256T>A (p.Leu86Met)
n.258-626T>A
n.351T>A
n.502T>A
c.316T>A (p.Leu106Met)
c.355T>A (p.Leu119Met)
c.205T>A (p.Leu69Met)
n.729T>A
9g.113391560G>ACA466758216ALADc.228C>T (p.Val76=)
c.255C>T (p.Val85=)
n.258-627C>T
n.350C>T
n.501C>T
c.315C>T (p.Val105=)
c.354C>T (p.Val118=)
c.204C>T (p.Val68=)
n.728C>T
9g.113391560G>CCA466758214ALADc.228C>G (p.Val76=)
c.255C>G (p.Val85=)
n.258-627C>G
n.350C>G
n.501C>G
c.315C>G (p.Val105=)
c.354C>G (p.Val118=)
c.204C>G (p.Val68=)
n.728C>G
9g.113391560G>TCA466758215ALADc.228C>A (p.Val76=)
c.255C>A (p.Val85=)
n.258-627C>A
n.350C>A
n.501C>A
c.315C>A (p.Val105=)
c.354C>A (p.Val118=)
c.204C>A (p.Val68=)
n.728C>A
9g.113391561A=CA1873366743ALADc.227T= (p.Val76=)
c.254T= (p.Val85=)
n.258-628T=
n.349T=
n.500T=
c.314T= (p.Val105=)
c.353T= (p.Val118=)
c.203T= (p.Val68=)
n.727T=
9g.113391561A>CCA374565049ALADc.227T>G (p.Val76Gly)
c.254T>G (p.Val85Gly)
n.258-628T>G
n.349T>G
n.500T>G
c.314T>G (p.Val105Gly)
c.353T>G (p.Val118Gly)
c.203T>G (p.Val68Gly)
n.727T>G
9g.113391561A>GCA374565052ALADc.227T>C (p.Val76Ala)
c.254T>C (p.Val85Ala)
n.258-628T>C
n.349T>C
n.500T>C
c.314T>C (p.Val105Ala)
c.353T>C (p.Val118Ala)
c.203T>C (p.Val68Ala)
n.727T>C
 dbSNP gnomAD v2 gnomAD v4
9g.113391561A>TCA374565051ALADc.227T>A (p.Val76Asp)
c.254T>A (p.Val85Asp)
n.258-628T>A
n.349T>A
n.500T>A
c.314T>A (p.Val105Asp)
c.353T>A (p.Val118Asp)
c.203T>A (p.Val68Asp)
n.727T>A
9g.113391562C>ACA374565055ALADc.226G>T (p.Val76Phe)
c.253G>T (p.Val85Phe)
n.258-629G>T
n.348G>T
n.499G>T
c.313G>T (p.Val105Phe)
c.352G>T (p.Val118Phe)
c.202G>T (p.Val68Phe)
n.726G>T
9g.113391562C>GCA374565057ALADc.226G>C (p.Val76Leu)
c.253G>C (p.Val85Leu)
n.258-629G>C
n.348G>C
n.499G>C
c.313G>C (p.Val105Leu)
c.352G>C (p.Val118Leu)
c.202G>C (p.Val68Leu)
n.726G>C
 gnomAD v4
9g.113391562C>TCA374565058ALADc.226G>A (p.Val76Ile)
c.253G>A (p.Val85Ile)
n.258-629G>A
n.348G>A
n.499G>A
c.313G>A (p.Val105Ile)
c.352G>A (p.Val118Ile)
c.202G>A (p.Val68Ile)
n.726G>A
 gnomAD v4
9g.113391563A>CCA374565060ALADc.225T>G (p.Cys75Trp)
c.252T>G (p.Cys84Trp)
n.258-630T>G
n.347T>G
n.498T>G
c.312T>G (p.Cys104Trp)
c.351T>G (p.Cys117Trp)
c.201T>G (p.Cys67Trp)
n.725T>G
9g.113391563A>GCA466758217ALADc.225T>C (p.Cys75=)
c.252T>C (p.Cys84=)
n.258-630T>C
n.347T>C
n.498T>C
c.312T>C (p.Cys104=)
c.351T>C (p.Cys117=)
c.201T>C (p.Cys67=)
n.725T>C
9g.113391563A>TCA374565062ALADc.225T>A (p.Cys75Ter)
c.252T>A (p.Cys84Ter)
n.258-630T>A
n.347T>A
n.498T>A
c.312T>A (p.Cys104Ter)
c.351T>A (p.Cys117Ter)
c.201T>A (p.Cys67Ter)
n.725T>A
 gnomAD v4
9g.113391564C>ACA374565064ALADc.224G>T (p.Cys75Phe)
c.251G>T (p.Cys84Phe)
n.258-631G>T
n.346G>T
n.497G>T
c.311G>T (p.Cys104Phe)
c.350G>T (p.Cys117Phe)
c.200G>T (p.Cys67Phe)
n.724G>T
9g.113391564C>GCA374565066ALADc.224G>C (p.Cys75Ser)
c.251G>C (p.Cys84Ser)
n.258-631G>C
n.346G>C
n.497G>C
c.311G>C (p.Cys104Ser)
c.350G>C (p.Cys117Ser)
c.200G>C (p.Cys67Ser)
n.724G>C
9g.113391564C>TCA374565067ALADc.224G>A (p.Cys75Tyr)
c.251G>A (p.Cys84Tyr)
n.258-631G>A
n.346G>A
n.497G>A
c.311G>A (p.Cys104Tyr)
c.350G>A (p.Cys117Tyr)
c.200G>A (p.Cys67Tyr)
n.724G>A
9g.113391565A=CA1873366744ALADc.223T= (p.Cys75=)
c.250T= (p.Cys84=)
n.258-632T=
n.345T=
n.496T=
c.310T= (p.Cys104=)
c.349T= (p.Cys117=)
c.199T= (p.Cys67=)
n.723T=
9g.113391565A>CCA374565078ALADc.223T>G (p.Cys75Gly)
c.250T>G (p.Cys84Gly)
n.258-632T>G
n.345T>G
n.496T>G
c.310T>G (p.Cys104Gly)
c.349T>G (p.Cys117Gly)
c.199T>G (p.Cys67Gly)
n.723T>G
9g.113391565A>GCA374565080ALADc.223T>C (p.Cys75Arg)
c.250T>C (p.Cys84Arg)
n.258-632T>C
n.345T>C
n.496T>C
c.310T>C (p.Cys104Arg)
c.349T>C (p.Cys117Arg)
c.199T>C (p.Cys67Arg)
n.723T>C
 dbSNP gnomAD v3 gnomAD v4
9g.113391565A>TCA374565082ALADc.223T>A (p.Cys75Ser)
c.250T>A (p.Cys84Ser)
n.258-632T>A
n.345T>A
n.496T>A
c.310T>A (p.Cys104Ser)
c.349T>A (p.Cys117Ser)
c.199T>A (p.Cys67Ser)
n.723T>A
9g.113391566G>ACA466758218ALADc.222C>T (p.Arg74=)
c.249C>T (p.Arg83=)
n.258-633C>T
n.344C>T
n.495C>T
c.309C>T (p.Arg103=)
c.348C>T (p.Arg116=)
c.198C>T (p.Arg66=)
n.722C>T
9g.113391566G>CCA466758219ALADc.222C>G (p.Arg74=)
c.249C>G (p.Arg83=)
n.258-633C>G
n.344C>G
n.495C>G
c.309C>G (p.Arg103=)
c.348C>G (p.Arg116=)
c.198C>G (p.Arg66=)
n.722C>G
9g.113391566G>TCA466758220ALADc.222C>A (p.Arg74=)
c.249C>A (p.Arg83=)
n.258-633C>A
n.344C>A
n.495C>A
c.309C>A (p.Arg103=)
c.348C>A (p.Arg116=)
c.198C>A (p.Arg66=)
n.722C>A
9g.113391567C>ACA374565084ALADc.221G>T (p.Arg74Leu)
c.248G>T (p.Arg83Leu)
n.258-634G>T
n.343G>T
n.494G>T
c.308G>T (p.Arg103Leu)
c.347G>T (p.Arg116Leu)
c.197G>T (p.Arg66Leu)
n.721G>T
9g.113391567C=CA1873366745ALADc.221G= (p.Arg74=)
c.248G= (p.Arg83=)
n.258-634G=
n.343G=
n.494G=
c.308G= (p.Arg103=)
c.347G= (p.Arg116=)
c.197G= (p.Arg66=)
n.721G=
9g.113391567C>GCA374565083ALADc.221G>C (p.Arg74Pro)
c.248G>C (p.Arg83Pro)
n.258-634G>C
n.343G>C
n.494G>C
c.308G>C (p.Arg103Pro)
c.347G>C (p.Arg116Pro)
c.197G>C (p.Arg66Pro)
n.721G>C
9g.113391567C>TCA5196571ALADc.221G>A (p.Arg74His)
c.248G>A (p.Arg83His)
n.258-634G>A
n.343G>A
n.494G>A
c.308G>A (p.Arg103His)
c.347G>A (p.Arg116His)
c.197G>A (p.Arg66His)
n.721G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391568G>ACA5196572ALADc.220C>T (p.Arg74Cys)
c.247C>T (p.Arg83Cys)
n.258-635C>T
n.342C>T
n.493C>T
c.307C>T (p.Arg103Cys)
c.346C>T (p.Arg116Cys)
c.196C>T (p.Arg66Cys)
n.720C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391568G>CCA374565086ALADc.220C>G (p.Arg74Gly)
c.247C>G (p.Arg83Gly)
n.258-635C>G
n.342C>G
n.493C>G
c.307C>G (p.Arg103Gly)
c.346C>G (p.Arg116Gly)
c.196C>G (p.Arg66Gly)
n.720C>G
9g.113391568G=CA1873366746ALADc.220C= (p.Arg74=)
c.247C= (p.Arg83=)
n.258-635C=
n.342C=
n.493C=
c.307C= (p.Arg103=)
c.346C= (p.Arg116=)
c.196C= (p.Arg66=)
n.720C=
9g.113391568G>TCA374565087ALADc.220C>A (p.Arg74Ser)
c.247C>A (p.Arg83Ser)
n.258-635C>A
n.342C>A
n.493C>A
c.307C>A (p.Arg103Ser)
c.346C>A (p.Arg116Ser)
c.196C>A (p.Arg66Ser)
n.720C>A
9g.113391569T>ACA466758221ALADc.219A>T (p.Leu73=)
c.246A>T (p.Leu82=)
n.258-636A>T
n.341A>T
n.492A>T
c.306A>T (p.Leu102=)
c.345A>T (p.Leu115=)
c.195A>T (p.Leu65=)
n.719A>T
9g.113391569T>CCA5196573ALADc.219A>G (p.Leu73=)
c.246A>G (p.Leu82=)
n.258-636A>G
n.341A>G
n.492A>G
c.306A>G (p.Leu102=)
c.345A>G (p.Leu115=)
c.195A>G (p.Leu65=)
n.719A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391569T>GCA466758222ALADc.219A>C (p.Leu73=)
c.246A>C (p.Leu82=)
n.258-636A>C
n.341A>C
n.492A>C
c.306A>C (p.Leu102=)
c.345A>C (p.Leu115=)
c.195A>C (p.Leu65=)
n.719A>C
9g.113391569T=CA1873366747ALADc.219A= (p.Leu73=)
c.246A= (p.Leu82=)
n.258-636A=
n.341A=
n.492A=
c.306A= (p.Leu102=)
c.345A= (p.Leu115=)
c.195A= (p.Leu65=)
n.719A=
9g.113391570A>CCA374565088ALADc.218T>G (p.Leu73Arg)
c.245T>G (p.Leu82Arg)
n.258-637T>G
n.340T>G
n.491T>G
c.305T>G (p.Leu102Arg)
c.344T>G (p.Leu115Arg)
c.194T>G (p.Leu65Arg)
n.718T>G
9g.113391570A>GCA374565089ALADc.218T>C (p.Leu73Pro)
c.245T>C (p.Leu82Pro)
n.258-637T>C
n.340T>C
n.491T>C
c.305T>C (p.Leu102Pro)
c.344T>C (p.Leu115Pro)
c.194T>C (p.Leu65Pro)
n.718T>C
9g.113391570A>TCA374565090ALADc.218T>A (p.Leu73Gln)
c.245T>A (p.Leu82Gln)
n.258-637T>A
n.340T>A
n.491T>A
c.305T>A (p.Leu102Gln)
c.344T>A (p.Leu115Gln)
c.194T>A (p.Leu65Gln)
n.718T>A
9g.113391571G>ACA466758223ALADc.217C>T (p.Leu73=)
c.244C>T (p.Leu82=)
n.258-638C>T
n.339C>T
n.490C>T
c.304C>T (p.Leu102=)
c.343C>T (p.Leu115=)
c.193C>T (p.Leu65=)
n.717C>T
 gnomAD v4
9g.113391571G>CCA5196574ALADc.217C>G (p.Leu73Val)
c.244C>G (p.Leu82Val)
n.258-638C>G
n.339C>G
n.490C>G
c.304C>G (p.Leu102Val)
c.343C>G (p.Leu115Val)
c.193C>G (p.Leu65Val)
n.717C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391571G=CA1873366748ALADc.217C= (p.Leu73=)
c.244C= (p.Leu82=)
n.258-638C=
n.339C=
n.490C=
c.304C= (p.Leu102=)
c.343C= (p.Leu115=)
c.193C= (p.Leu65=)
n.717C=
9g.113391571G>TCA374565093ALADc.217C>A (p.Leu73Ile)
c.244C>A (p.Leu82Ile)
n.258-638C>A
n.339C>A
n.490C>A
c.304C>A (p.Leu102Ile)
c.343C>A (p.Leu115Ile)
c.193C>A (p.Leu65Ile)
n.717C>A
 gnomAD v4
9g.113391572G>ACA466758225ALADc.216C>T (p.Gly72=)
c.243C>T (p.Gly81=)
n.258-639C>T
n.338C>T
n.489C>T
c.303C>T (p.Gly101=)
c.342C>T (p.Gly114=)
c.192C>T (p.Gly64=)
n.716C>T
 dbSNP gnomAD v3 gnomAD v4
9g.113391572G>CCA466758226ALADc.216C>G (p.Gly72=)
c.243C>G (p.Gly81=)
n.258-639C>G
n.338C>G
n.489C>G
c.303C>G (p.Gly101=)
c.342C>G (p.Gly114=)
c.192C>G (p.Gly64=)
n.716C>G
9g.113391572G=CA1873366749ALADc.216C= (p.Gly72=)
c.243C= (p.Gly81=)
n.258-639C=
n.338C=
n.489C=
c.303C= (p.Gly101=)
c.342C= (p.Gly114=)
c.192C= (p.Gly64=)
n.716C=
9g.113391572G>TCA466758227ALADc.216C>A (p.Gly72=)
c.243C>A (p.Gly81=)
n.258-639C>A
n.338C>A
n.489C>A
c.303C>A (p.Gly101=)
c.342C>A (p.Gly114=)
c.192C>A (p.Gly64=)
n.716C>A
9g.113391573C>ACA374565095ALADc.215G>T (p.Gly72Val)
c.242G>T (p.Gly81Val)
n.258-640G>T
n.337G>T
n.488G>T
c.302G>T (p.Gly101Val)
c.341G>T (p.Gly114Val)
c.191G>T (p.Gly64Val)
n.715G>T
9g.113391573C>GCA374565097ALADc.215G>C (p.Gly72Ala)
c.242G>C (p.Gly81Ala)
n.258-640G>C
n.337G>C
n.488G>C
c.302G>C (p.Gly101Ala)
c.341G>C (p.Gly114Ala)
c.191G>C (p.Gly64Ala)
n.715G>C
9g.113391573C>TCA374565098ALADc.215G>A (p.Gly72Asp)
c.242G>A (p.Gly81Asp)
n.258-640G>A
n.337G>A
n.488G>A
c.302G>A (p.Gly101Asp)
c.341G>A (p.Gly114Asp)
c.191G>A (p.Gly64Asp)
n.715G>A
9g.113391574C>ACA374565101ALADc.214G>T (p.Gly72Cys)
c.241G>T (p.Gly81Cys)
n.258-641G>T
n.336G>T
n.487G>T
c.301G>T (p.Gly101Cys)
c.340G>T (p.Gly114Cys)
c.190G>T (p.Gly64Cys)
n.714G>T
9g.113391574C>GCA374565100ALADc.214G>C (p.Gly72Arg)
c.241G>C (p.Gly81Arg)
n.258-641G>C
n.336G>C
n.487G>C
c.301G>C (p.Gly101Arg)
c.340G>C (p.Gly114Arg)
c.190G>C (p.Gly64Arg)
n.714G>C
9g.113391574C>TCA374565099ALADc.214G>A (p.Gly72Ser)
c.241G>A (p.Gly81Ser)
n.258-641G>A
n.336G>A
n.487G>A
c.301G>A (p.Gly101Ser)
c.340G>A (p.Gly114Ser)
c.190G>A (p.Gly64Ser)
n.714G>A
9g.113391575C>ACA374565103ALADc.213G>T (p.Glu71Asp)
c.240G>T (p.Glu80Asp)
n.258-642G>T
n.335G>T
n.486G>T
c.300G>T (p.Glu100Asp)
c.339G>T (p.Glu113Asp)
c.189G>T (p.Glu63Asp)
n.713G>T
9g.113391575C=CA1873366750ALADc.213G= (p.Glu71=)
c.240G= (p.Glu80=)
n.258-642G=
n.335G=
n.486G=
c.300G= (p.Glu100=)
c.339G= (p.Glu113=)
c.189G= (p.Glu63=)
n.713G=
9g.113391575C>GCA374565107ALADc.213G>C (p.Glu71Asp)
c.240G>C (p.Glu80Asp)
n.258-642G>C
n.335G>C
n.486G>C
c.300G>C (p.Glu100Asp)
c.339G>C (p.Glu113Asp)
c.189G>C (p.Glu63Asp)
n.713G>C
9g.113391575C>TCA5196575ALADc.213G>A (p.Glu71=)
c.240G>A (p.Glu80=)
n.258-642G>A
n.335G>A
n.486G>A
c.300G>A (p.Glu100=)
c.339G>A (p.Glu113=)
c.189G>A (p.Glu63=)
n.713G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.113391576T>ACA374565110ALADc.212A>T (p.Glu71Val)
c.239A>T (p.Glu80Val)
n.258-643A>T
n.334A>T
n.485A>T
c.299A>T (p.Glu100Val)
c.338A>T (p.Glu113Val)
c.188A>T (p.Glu63Val)
n.712A>T
9g.113391576T>CCA374565112ALADc.212A>G (p.Glu71Gly)
c.239A>G (p.Glu80Gly)
n.258-643A>G
n.334A>G
n.485A>G
c.299A>G (p.Glu100Gly)
c.338A>G (p.Glu113Gly)
c.188A>G (p.Glu63Gly)
n.712A>G
9g.113391576T>GCA374565114ALADc.212A>C (p.Glu71Ala)
c.239A>C (p.Glu80Ala)
n.258-643A>C
n.334A>C
n.485A>C
c.299A>C (p.Glu100Ala)
c.338A>C (p.Glu113Ala)
c.188A>C (p.Glu63Ala)
n.712A>C
9g.113391577C>ACA374565117ALADc.211G>T (p.Glu71Ter)
c.238G>T (p.Glu80Ter)
n.258-644G>T
n.333G>T
n.484G>T
c.298G>T (p.Glu100Ter)
c.337G>T (p.Glu113Ter)
c.187G>T (p.Glu63Ter)
n.711G>T
9g.113391577C>GCA374565115ALADc.211G>C (p.Glu71Gln)
c.238G>C (p.Glu80Gln)
n.258-644G>C
n.333G>C
n.484G>C
c.298G>C (p.Glu100Gln)
c.337G>C (p.Glu113Gln)
c.187G>C (p.Glu63Gln)
n.711G>C
9g.113391577C>TCA374565116ALADc.211G>A (p.Glu71Lys)
c.238G>A (p.Glu80Lys)
n.258-644G>A
n.333G>A
n.484G>A
c.298G>A (p.Glu100Lys)
c.337G>A (p.Glu113Lys)
c.187G>A (p.Glu63Lys)
n.711G>A
9g.113391578T>ACA374565118ALADc.210A>T (p.Glu70Asp)
c.237A>T (p.Glu79Asp)
n.258-645A>T
n.332A>T
n.483A>T
c.297A>T (p.Glu99Asp)
c.336A>T (p.Glu112Asp)
c.186A>T (p.Glu62Asp)
n.710A>T
9g.113391578T>CCA466758229ALADc.210A>G (p.Glu70=)
c.237A>G (p.Glu79=)
n.258-645A>G
n.332A>G
n.483A>G
c.297A>G (p.Glu99=)
c.336A>G (p.Glu112=)
c.186A>G (p.Glu62=)
n.710A>G
9g.113391578T>GCA374565119ALADc.210A>C (p.Glu70Asp)
c.237A>C (p.Glu79Asp)
n.258-645A>C
n.332A>C
n.483A>C
c.297A>C (p.Glu99Asp)
c.336A>C (p.Glu112Asp)
c.186A>C (p.Glu62Asp)
n.710A>C
9g.113391579T>ACA374565120ALADc.209A>T (p.Glu70Val)
c.236A>T (p.Glu79Val)
n.258-646A>T
n.331A>T
n.482A>T
c.296A>T (p.Glu99Val)
c.335A>T (p.Glu112Val)
c.185A>T (p.Glu62Val)
n.709A>T
9g.113391579T>CCA374565121ALADc.209A>G (p.Glu70Gly)
c.236A>G (p.Glu79Gly)
n.258-646A>G
n.331A>G
n.482A>G
c.296A>G (p.Glu99Gly)
c.335A>G (p.Glu112Gly)
c.185A>G (p.Glu62Gly)
n.709A>G
 dbSNP
9g.113391579T>GCA374565123ALADc.209A>C (p.Glu70Ala)
c.236A>C (p.Glu79Ala)
n.258-646A>C
n.331A>C
n.482A>C
c.296A>C (p.Glu99Ala)
c.335A>C (p.Glu112Ala)
c.185A>C (p.Glu62Ala)
n.709A>C
9g.113391579T=CA1873366751ALADc.209A= (p.Glu70=)
c.236A= (p.Glu79=)
n.258-646A=
n.331A=
n.482A=
c.296A= (p.Glu99=)
c.335A= (p.Glu112=)
c.185A= (p.Glu62=)
n.709A=
9g.113391580C>ACA374565124ALADc.208G>T (p.Glu70Ter)
c.235G>T (p.Glu79Ter)
n.258-647G>T
n.330G>T
n.481G>T
c.295G>T (p.Glu99Ter)
c.334G>T (p.Glu112Ter)
c.184G>T (p.Glu62Ter)
n.708G>T
9g.113391580C>GCA374565126ALADc.208G>C (p.Glu70Gln)
c.235G>C (p.Glu79Gln)
n.258-647G>C
n.330G>C
n.481G>C
c.295G>C (p.Glu99Gln)
c.334G>C (p.Glu112Gln)
c.184G>C (p.Glu62Gln)
n.708G>C
9g.113391580C>TCA374565125ALADc.208G>A (p.Glu70Lys)
c.235G>A (p.Glu79Lys)
n.258-647G>A
n.330G>A
n.481G>A
c.295G>A (p.Glu99Lys)
c.334G>A (p.Glu112Lys)
c.184G>A (p.Glu62Lys)
n.708G>A
 COSMIC COSMIC COSMIC
9g.113391581C>ACA466758230ALADc.207G>T (p.Val69=)
c.234G>T (p.Val78=)
n.258-648G>T
n.329G>T
n.480G>T
c.294G>T (p.Val98=)
c.333G>T (p.Val111=)
c.183G>T (p.Val61=)
n.707G>T
9g.113391581C>GCA466758232ALADc.207G>C (p.Val69=)
c.234G>C (p.Val78=)
n.258-648G>C
n.329G>C
n.480G>C
c.294G>C (p.Val98=)
c.333G>C (p.Val111=)
c.183G>C (p.Val61=)
n.707G>C
9g.113391581C>TCA466758231ALADc.207G>A (p.Val69=)
c.234G>A (p.Val78=)
n.258-648G>A
n.329G>A
n.480G>A
c.294G>A (p.Val98=)
c.333G>A (p.Val111=)
c.183G>A (p.Val61=)
n.707G>A
9g.113391582A=CA1873366752ALADc.206T= (p.Val69=)
c.233T= (p.Val78=)
n.258-649T=
n.328T=
n.479T=
c.293T= (p.Val98=)
c.332T= (p.Val111=)
c.182T= (p.Val61=)
n.706T=
9g.113391582A>CCA374565127ALADc.206T>G (p.Val69Gly)
c.233T>G (p.Val78Gly)
n.258-649T>G
n.328T>G
n.479T>G
c.293T>G (p.Val98Gly)
c.332T>G (p.Val111Gly)
c.182T>G (p.Val61Gly)
n.706T>G
 dbSNP
9g.113391582A>GCA374565128ALADc.206T>C (p.Val69Ala)
c.233T>C (p.Val78Ala)
n.258-649T>C
n.328T>C
n.479T>C
c.293T>C (p.Val98Ala)
c.332T>C (p.Val111Ala)
c.182T>C (p.Val61Ala)
n.706T>C
9g.113391582A>TCA374565129ALADc.206T>A (p.Val69Glu)
c.233T>A (p.Val78Glu)
n.258-649T>A
n.328T>A
n.479T>A
c.293T>A (p.Val98Glu)
c.332T>A (p.Val111Glu)
c.182T>A (p.Val61Glu)
n.706T>A
9g.113391583C>ACA374565130ALADc.205G>T (p.Val69Leu)
c.232G>T (p.Val78Leu)
n.258-650G>T
n.327G>T
n.478G>T
c.292G>T (p.Val98Leu)
c.331G>T (p.Val111Leu)
c.181G>T (p.Val61Leu)
n.705G>T
9g.113391583C>GCA374565131ALADc.205G>C (p.Val69Leu)
c.232G>C (p.Val78Leu)
n.258-650G>C
n.327G>C
n.478G>C
c.292G>C (p.Val98Leu)
c.331G>C (p.Val111Leu)
c.181G>C (p.Val61Leu)
n.705G>C
9g.113391583C>TCA374565132ALADc.205G>A (p.Val69Met)
c.232G>A (p.Val78Met)
n.258-650G>A
n.327G>A
n.478G>A
c.292G>A (p.Val98Met)
c.331G>A (p.Val111Met)
c.181G>A (p.Val61Met)
n.705G>A
9g.113391584C>ACA374565133ALADc.204G>T (p.Leu68Phe)
c.231G>T (p.Leu77Phe)
n.258-651G>T
n.326G>T
n.477G>T
c.291G>T (p.Leu97Phe)
c.330G>T (p.Leu110Phe)
c.180G>T (p.Leu60Phe)
n.704G>T
9g.113391584C>GCA374565134ALADc.204G>C (p.Leu68Phe)
c.231G>C (p.Leu77Phe)
n.258-651G>C
n.326G>C
n.477G>C
c.291G>C (p.Leu97Phe)
c.330G>C (p.Leu110Phe)
c.180G>C (p.Leu60Phe)
n.704G>C
9g.113391584C>TCA466758233ALADc.204G>A (p.Leu68=)
c.231G>A (p.Leu77=)
n.258-651G>A
n.326G>A
n.477G>A
c.291G>A (p.Leu97=)
c.330G>A (p.Leu110=)
c.180G>A (p.Leu60=)
n.704G>A
9g.113391585A>CCA374565135ALADc.203T>G (p.Leu68Trp)
c.230T>G (p.Leu77Trp)
n.258-652T>G
n.325T>G
n.476T>G
c.290T>G (p.Leu97Trp)
c.329T>G (p.Leu110Trp)
c.179T>G (p.Leu60Trp)
n.703T>G
 gnomAD v4
9g.113391585A>GCA374565136ALADc.203T>C (p.Leu68Ser)
c.230T>C (p.Leu77Ser)
n.258-652T>C
n.325T>C
n.476T>C
c.290T>C (p.Leu97Ser)
c.329T>C (p.Leu110Ser)
c.179T>C (p.Leu60Ser)
n.703T>C
9g.113391585A>TCA374565137ALADc.203T>A (p.Leu68Ter)
c.230T>A (p.Leu77Ter)
n.258-652T>A
n.325T>A
n.476T>A
c.290T>A (p.Leu97Ter)
c.329T>A (p.Leu110Ter)
c.179T>A (p.Leu60Ter)
n.703T>A
9g.113391586A>CCA374565138ALADc.202T>G (p.Leu68Val)
c.229T>G (p.Leu77Val)
n.258-653T>G
n.324T>G
n.475T>G
c.289T>G (p.Leu97Val)
c.328T>G (p.Leu110Val)
c.178T>G (p.Leu60Val)
n.702T>G
9g.113391586A>GCA466758234ALADc.202T>C (p.Leu68=)
c.229T>C (p.Leu77=)
n.258-653T>C
n.324T>C
n.475T>C
c.289T>C (p.Leu97=)
c.328T>C (p.Leu110=)
c.178T>C (p.Leu60=)
n.702T>C
9g.113391586A>TCA374565139ALADc.202T>A (p.Leu68Met)
c.229T>A (p.Leu77Met)
n.258-653T>A
n.324T>A
n.475T>A
c.289T>A (p.Leu97Met)
c.328T>A (p.Leu110Met)
c.178T>A (p.Leu60Met)
n.702T>A
9g.113391586_113391587delinsAGCA1873366753ALADc.201_202delinsCT (p.Pro67=)
c.228_229delinsCT (p.Pro76=)
n.258-654_258-653delinsCT
n.323_324delinsCT
n.474_475delinsCT
c.288_289delinsCT (p.Pro96=)
c.327_328delinsCT (p.Pro109=)
c.177_178delinsCT (p.Pro59=)
n.701_702delinsCT
9g.113391587G>ACA466758236ALADc.201C>T (p.Pro67=)
c.228C>T (p.Pro76=)
n.258-654C>T
n.323C>T
n.474C>T
c.288C>T (p.Pro96=)
c.327C>T (p.Pro109=)
c.177C>T (p.Pro59=)
n.701C>T
9g.113391587G>CCA466758237ALADc.201C>G (p.Pro67=)
c.228C>G (p.Pro76=)
n.258-654C>G
n.323C>G
n.474C>G
c.288C>G (p.Pro96=)
c.327C>G (p.Pro109=)
c.177C>G (p.Pro59=)
n.701C>G
 dbSNP gnomAD v2
9g.113391587G=CA1873366754ALADc.201C= (p.Pro67=)
c.228C= (p.Pro76=)
n.258-654C=
n.323C=
n.474C=
c.288C= (p.Pro96=)
c.327C= (p.Pro109=)
c.177C= (p.Pro59=)
n.701C=
9g.113391587G>TCA466758238ALADc.201C>A (p.Pro67=)
c.228C>A (p.Pro76=)
n.258-654C>A
n.323C>A
n.474C>A
c.288C>A (p.Pro96=)
c.327C>A (p.Pro109=)
c.177C>A (p.Pro59=)
n.701C>A
9g.113391589delCA858872318ALADc.201del (p.Leu68TrpfsTer10)
c.228del (p.Leu77TrpfsTer10)
n.258-654del
n.323del
n.474del
c.288del (p.Leu97TrpfsTer10)
c.327del (p.Leu110TrpfsTer10)
c.177del (p.Leu60TrpfsTer10)
n.701del
 dbSNP gnomAD v4
9g.113391588G>ACA374565140ALADc.200C>T (p.Pro67Leu)
c.227C>T (p.Pro76Leu)
n.258-655C>T
n.322C>T
n.473C>T
c.287C>T (p.Pro96Leu)
c.326C>T (p.Pro109Leu)
c.176C>T (p.Pro59Leu)
n.700C>T
9g.113391588G>CCA374565142ALADc.200C>G (p.Pro67Arg)
c.227C>G (p.Pro76Arg)
n.258-655C>G
n.322C>G
n.473C>G
c.287C>G (p.Pro96Arg)
c.326C>G (p.Pro109Arg)
c.176C>G (p.Pro59Arg)
n.700C>G
9g.113391588G>TCA374565141ALADc.200C>A (p.Pro67His)
c.227C>A (p.Pro76His)
n.258-655C>A
n.322C>A
n.473C>A
c.287C>A (p.Pro96His)
c.326C>A (p.Pro109His)
c.176C>A (p.Pro59His)
n.700C>A
9g.113391589G>ACA374565143ALADc.199C>T (p.Pro67Ser)
c.226C>T (p.Pro76Ser)
n.258-656C>T
n.321C>T
n.472C>T
c.286C>T (p.Pro96Ser)
c.325C>T (p.Pro109Ser)
c.175C>T (p.Pro59Ser)
n.699C>T
9g.113391589G>CCA374565144ALADc.199C>G (p.Pro67Ala)
c.226C>G (p.Pro76Ala)
n.258-656C>G
n.321C>G
n.472C>G
c.286C>G (p.Pro96Ala)
c.325C>G (p.Pro109Ala)
c.175C>G (p.Pro59Ala)
n.699C>G
9g.113391589G>TCA374565145ALADc.199C>A (p.Pro67Thr)
c.226C>A (p.Pro76Thr)
n.258-656C>A
n.321C>A
n.472C>A
c.286C>A (p.Pro96Thr)
c.325C>A (p.Pro109Thr)
c.175C>A (p.Pro59Thr)
n.699C>A
 gnomAD v4
9g.113391590C>ACA374565146ALADc.198G>T (p.Arg66Ser)
c.225G>T (p.Arg75Ser)
n.258-657G>T
n.320G>T
n.471G>T
c.285G>T (p.Arg95Ser)
c.324G>T (p.Arg108Ser)
c.174G>T (p.Arg58Ser)
n.698G>T
9g.113391590C>GCA374565147ALADc.198G>C (p.Arg66Ser)
c.225G>C (p.Arg75Ser)
n.258-657G>C
n.320G>C
n.471G>C
c.285G>C (p.Arg95Ser)
c.324G>C (p.Arg108Ser)
c.174G>C (p.Arg58Ser)
n.698G>C
9g.113391590C>TCA466758239ALADc.198G>A (p.Arg66=)
c.225G>A (p.Arg75=)
n.258-657G>A
n.320G>A
n.471G>A
c.285G>A (p.Arg95=)
c.324G>A (p.Arg108=)
c.174G>A (p.Arg58=)
n.698G>A
9g.113391591C>ACA374565148ALADc.197G>T (p.Arg66Met)
c.224G>T (p.Arg75Met)
n.258-658G>T
n.319G>T
n.470G>T
c.284G>T (p.Arg95Met)
c.323G>T (p.Arg108Met)
c.173G>T (p.Arg58Met)
n.697G>T
9g.113391591C=CA1873366755ALADc.197G= (p.Arg66=)
c.224G= (p.Arg75=)
n.258-658G=
n.319G=
n.470G=
c.284G= (p.Arg95=)
c.323G= (p.Arg108=)
c.173G= (p.Arg58=)
n.697G=
9g.113391591C>GCA374565149ALADc.197G>C (p.Arg66Thr)
c.224G>C (p.Arg75Thr)
n.258-658G>C
n.319G>C
n.470G>C
c.284G>C (p.Arg95Thr)
c.323G>C (p.Arg108Thr)
c.173G>C (p.Arg58Thr)
n.697G>C
9g.113391591C>TCA374565150ALADc.197G>A (p.Arg66Lys)
c.224G>A (p.Arg75Lys)
n.258-658G>A
n.319G>A
n.470G>A
c.284G>A (p.Arg95Lys)
c.323G>A (p.Arg108Lys)
c.173G>A (p.Arg58Lys)
n.697G>A
 dbSNP gnomAD v4
9g.113391592T>ACA374565151ALADc.196A>T (p.Arg66Trp)
c.223A>T (p.Arg75Trp)
n.258-659A>T
n.318A>T
n.469A>T
c.283A>T (p.Arg95Trp)
c.322A>T (p.Arg108Trp)
c.172A>T (p.Arg58Trp)
n.696A>T
9g.113391592T>CCA374565152ALADc.196A>G (p.Arg66Gly)
c.223A>G (p.Arg75Gly)
n.258-659A>G
n.318A>G
n.469A>G
c.283A>G (p.Arg95Gly)
c.322A>G (p.Arg108Gly)
c.172A>G (p.Arg58Gly)
n.696A>G
9g.113391592T>GCA466758240ALADc.196A>C (p.Arg66=)
c.223A>C (p.Arg75=)
n.258-659A>C
n.318A>C
n.469A>C
c.283A>C (p.Arg95=)
c.322A>C (p.Arg108=)
c.172A>C (p.Arg58=)
n.696A>C
9g.113391593C>ACA466758241ALADc.195G>T (p.Leu65=)
c.222G>T (p.Leu74=)
n.258-660G>T
n.317G>T
n.468G>T
c.282G>T (p.Leu94=)
c.321G>T (p.Leu107=)
c.171G>T (p.Leu57=)
n.695G>T
9g.113391593C>GCA466758243ALADc.195G>C (p.Leu65=)
c.222G>C (p.Leu74=)
n.258-660G>C
n.317G>C
n.468G>C
c.282G>C (p.Leu94=)
c.321G>C (p.Leu107=)
c.171G>C (p.Leu57=)
n.695G>C
 gnomAD v4
9g.113391593C>TCA466758242ALADc.195G>A (p.Leu65=)
c.222G>A (p.Leu74=)
n.258-660G>A
n.317G>A
n.468G>A
c.282G>A (p.Leu94=)
c.321G>A (p.Leu107=)
c.171G>A (p.Leu57=)
n.695G>A
9g.113391594A=CA1873366756ALADc.194T= (p.Leu65=)
c.221T= (p.Leu74=)
n.258-661T=
n.316T=
n.467T=
c.281T= (p.Leu94=)
c.320T= (p.Leu107=)
c.170T= (p.Leu57=)
n.694T=
9g.113391594A>CCA374565153ALADc.194T>G (p.Leu65Arg)
c.221T>G (p.Leu74Arg)
n.258-661T>G
n.316T>G
n.467T>G
c.281T>G (p.Leu94Arg)
c.320T>G (p.Leu107Arg)
c.170T>G (p.Leu57Arg)
n.694T>G
9g.113391594A>GCA198548049ALADc.194T>C (p.Leu65Pro)
c.221T>C (p.Leu74Pro)
n.258-661T>C
n.316T>C
n.467T>C
c.281T>C (p.Leu94Pro)
c.320T>C (p.Leu107Pro)
c.170T>C (p.Leu57Pro)
n.694T>C
 dbSNP
9g.113391594A>TCA374565154ALADc.194T>A (p.Leu65Gln)
c.221T>A (p.Leu74Gln)
n.258-661T>A
n.316T>A
n.467T>A
c.281T>A (p.Leu94Gln)
c.320T>A (p.Leu107Gln)
c.170T>A (p.Leu57Gln)
n.694T>A
9g.113391595G>ACA466758244ALADc.193C>T (p.Leu65=)
c.220C>T (p.Leu74=)
n.258-662C>T
n.315C>T
n.466C>T
c.280C>T (p.Leu94=)
c.319C>T (p.Leu107=)
c.169C>T (p.Leu57=)
n.693C>T
 dbSNP gnomAD v3 gnomAD v4
9g.113391595G>CCA5196576ALADc.193C>G (p.Leu65Val)
c.220C>G (p.Leu74Val)
n.258-662C>G
n.315C>G
n.466C>G
c.280C>G (p.Leu94Val)
c.319C>G (p.Leu107Val)
c.169C>G (p.Leu57Val)
n.693C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.113391595G=CA1873366757ALADc.193C= (p.Leu65=)
c.220C= (p.Leu74=)
n.258-662C=
n.315C=
n.466C=
c.280C= (p.Leu94=)
c.319C= (p.Leu107=)
c.169C= (p.Leu57=)
n.693C=
9g.113391595G>TCA374565155ALADc.193C>A (p.Leu65Met)
c.220C>A (p.Leu74Met)
n.258-662C>A
n.315C>A
n.466C>A
c.280C>A (p.Leu94Met)
c.319C>A (p.Leu107Met)
c.169C>A (p.Leu57Met)
n.693C>A
9g.113391596C>ACA374565156ALADc.192G>T (p.Met64Ile)
c.219G>T (p.Met73Ile)
n.258-663G>T
n.314G>T
n.465G>T
c.279G>T (p.Met93Ile)
c.318G>T (p.Met106Ile)
c.168G>T (p.Met56Ile)
n.692G>T
9g.113391596C>GCA374565158ALADc.192G>C (p.Met64Ile)
c.219G>C (p.Met73Ile)
n.258-663G>C
n.314G>C
n.465G>C
c.279G>C (p.Met93Ile)
c.318G>C (p.Met106Ile)
c.168G>C (p.Met56Ile)
n.692G>C
9g.113391596C>TCA374565157ALADc.192G>A (p.Met64Ile)
c.219G>A (p.Met73Ile)
n.258-663G>A
n.314G>A
n.465G>A
c.279G>A (p.Met93Ile)
c.318G>A (p.Met106Ile)
c.168G>A (p.Met56Ile)
n.692G>A
9g.113391597A=CA1873366758ALADc.191T= (p.Met64=)
c.218T= (p.Met73=)
n.258-664T=
n.313T=
n.464T=
c.278T= (p.Met93=)
c.317T= (p.Met106=)
c.167T= (p.Met56=)
n.691T=
9g.113391597A>CCA374565159ALADc.191T>G (p.Met64Arg)
c.218T>G (p.Met73Arg)
n.258-664T>G
n.313T>G
n.464T>G
c.278T>G (p.Met93Arg)
c.317T>G (p.Met106Arg)
c.167T>G (p.Met56Arg)
n.691T>G
9g.113391597A>GCA374565160ALADc.191T>C (p.Met64Thr)
c.218T>C (p.Met73Thr)
n.258-664T>C
n.313T>C
n.464T>C
c.278T>C (p.Met93Thr)
c.317T>C (p.Met106Thr)
c.167T>C (p.Met56Thr)
n.691T>C
 dbSNP gnomAD v3 gnomAD v4
9g.113391597A>TCA374565161ALADc.191T>A (p.Met64Lys)
c.218T>A (p.Met73Lys)
n.258-664T>A
n.313T>A
n.464T>A
c.278T>A (p.Met93Lys)
c.317T>A (p.Met106Lys)
c.167T>A (p.Met56Lys)
n.691T>A
9g.113391598T>ACA374565162ALADc.190A>T (p.Met64Leu)
c.217A>T (p.Met73Leu)
n.258-665A>T
n.312A>T
n.463A>T
c.277A>T (p.Met93Leu)
c.316A>T (p.Met106Leu)
c.166A>T (p.Met56Leu)
n.690A>T
9g.113391598T>CCA374565163ALADc.190A>G (p.Met64Val)
c.217A>G (p.Met73Val)
n.258-665A>G
n.312A>G
n.463A>G
c.277A>G (p.Met93Val)
c.316A>G (p.Met106Val)
c.166A>G (p.Met56Val)
n.690A>G
9g.113391598T>GCA374565164ALADc.190A>C (p.Met64Leu)
c.217A>C (p.Met73Leu)
n.258-665A>C
n.312A>C
n.463A>C
c.277A>C (p.Met93Leu)
c.316A>C (p.Met106Leu)
c.166A>C (p.Met56Leu)
n.690A>C
9g.113391599C>ACA374565165ALADc.189G>T (p.Glu63Asp)
c.216G>T (p.Glu72Asp)
n.258-666G>T
n.311G>T
n.462G>T
c.276G>T (p.Glu92Asp)
c.315G>T (p.Glu105Asp)
c.165G>T (p.Glu55Asp)
n.689G>T
9g.113391599C=CA1873366759ALADc.189G= (p.Glu63=)
c.216G= (p.Glu72=)
n.258-666G=
n.311G=
n.462G=
c.276G= (p.Glu92=)
c.315G= (p.Glu105=)
c.165G= (p.Glu55=)
n.689G=
9g.113391599C>GCA374565166ALADc.189G>C (p.Glu63Asp)
c.216G>C (p.Glu72Asp)
n.258-666G>C
n.311G>C
n.462G>C
c.276G>C (p.Glu92Asp)
c.315G>C (p.Glu105Asp)
c.165G>C (p.Glu55Asp)
n.689G>C
9g.113391599C>TCA466758248ALADc.189G>A (p.Glu63=)
c.216G>A (p.Glu72=)
n.258-666G>A
n.311G>A
n.462G>A
c.276G>A (p.Glu92=)
c.315G>A (p.Glu105=)
c.165G>A (p.Glu55=)
n.689G>A
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
9g.113391600T>ACA374565167ALADc.188A>T (p.Glu63Val)
c.215A>T (p.Glu72Val)
n.258-667A>T
n.310A>T
n.461A>T
c.275A>T (p.Glu92Val)
c.314A>T (p.Glu105Val)
c.164A>T (p.Glu55Val)
n.688A>T
9g.113391600T>CCA374565168ALADc.188A>G (p.Glu63Gly)
c.215A>G (p.Glu72Gly)
n.258-667A>G
n.310A>G
n.461A>G
c.275A>G (p.Glu92Gly)
c.314A>G (p.Glu105Gly)
c.164A>G (p.Glu55Gly)
n.688A>G
9g.113391600T>GCA374565169ALADc.188A>C (p.Glu63Ala)
c.215A>C (p.Glu72Ala)
n.258-667A>C
n.310A>C
n.461A>C
c.275A>C (p.Glu92Ala)
c.314A>C (p.Glu105Ala)
c.164A>C (p.Glu55Ala)
n.688A>C
9g.113391601C>ACA374565170ALADc.187G>T (p.Glu63Ter)
c.214G>T (p.Glu72Ter)
n.258-668G>T
n.309G>T
n.460G>T
c.274G>T (p.Glu92Ter)
c.313G>T (p.Glu105Ter)
c.163G>T (p.Glu55Ter)
n.687G>T
9g.113391601C>GCA374565172ALADc.187G>C (p.Glu63Gln)
c.214G>C (p.Glu72Gln)
n.258-668G>C
n.309G>C
n.460G>C
c.274G>C (p.Glu92Gln)
c.313G>C (p.Glu105Gln)
c.163G>C (p.Glu55Gln)
n.687G>C
9g.113391601C>TCA374565171ALADc.187G>A (p.Glu63Lys)
c.214G>A (p.Glu72Lys)
n.258-668G>A
n.309G>A
n.460G>A
c.274G>A (p.Glu92Lys)
c.313G>A (p.Glu105Lys)
c.163G>A (p.Glu55Lys)
n.687G>A
9g.113391602T>ACA374565173ALADc.186A>T (p.Glu62Asp)
c.213A>T (p.Glu71Asp)
n.258-669A>T
n.308A>T
n.459A>T
c.273A>T (p.Glu91Asp)
c.312A>T (p.Glu104Asp)
c.162A>T (p.Glu54Asp)
n.686A>T
9g.113391602T>CCA466758250ALADc.186A>G (p.Glu62=)
c.213A>G (p.Glu71=)
n.258-669A>G
n.308A>G
n.459A>G
c.273A>G (p.Glu91=)
c.312A>G (p.Glu104=)
c.162A>G (p.Glu54=)
n.686A>G
9g.113391602T>GCA374565174ALADc.186A>C (p.Glu62Asp)
c.213A>C (p.Glu71Asp)
n.258-669A>C
n.308A>C
n.459A>C
c.273A>C (p.Glu91Asp)
c.312A>C (p.Glu104Asp)
c.162A>C (p.Glu54Asp)
n.686A>C
 gnomAD v4
9g.113391603T>ACA374565175ALADc.185A>T (p.Glu62Val)
c.212A>T (p.Glu71Val)
n.258-670A>T
n.307A>T
n.458A>T
c.272A>T (p.Glu91Val)
c.311A>T (p.Glu104Val)
c.161A>T (p.Glu54Val)
n.685A>T
9g.113391603T>CCA5196577ALADc.185A>G (p.Glu62Gly)
c.212A>G (p.Glu71Gly)
n.258-670A>G
n.307A>G
n.458A>G
c.272A>G (p.Glu91Gly)
c.311A>G (p.Glu104Gly)
c.161A>G (p.Glu54Gly)
n.685A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.113391603T>GCA374565176ALADc.185A>C (p.Glu62Ala)
c.212A>C (p.Glu71Ala)
n.258-670A>C
n.307A>C
n.458A>C
c.272A>C (p.Glu91Ala)
c.311A>C (p.Glu104Ala)
c.161A>C (p.Glu54Ala)
n.685A>C
 gnomAD v4
9g.113391603T=CA1873366760ALADc.185A= (p.Glu62=)
c.212A= (p.Glu71=)
n.258-670A=
n.307A=
n.458A=
c.272A= (p.Glu91=)
c.311A= (p.Glu104=)
c.161A= (p.Glu54=)
n.685A=
9g.113391604C>ACA374565177ALADc.184G>T (p.Glu62Ter)
c.211G>T (p.Glu71Ter)
n.258-671G>T
n.306G>T
n.457G>T
c.271G>T (p.Glu91Ter)
c.310G>T (p.Glu104Ter)
c.160G>T (p.Glu54Ter)
n.684G>T
9g.113391604C>GCA374565178ALADc.184G>C (p.Glu62Gln)
c.211G>C (p.Glu71Gln)
n.258-671G>C
n.306G>C
n.457G>C
c.271G>C (p.Glu91Gln)
c.310G>C (p.Glu104Gln)
c.160G>C (p.Glu54Gln)
n.684G>C
9g.113391604C>TCA374565179ALADc.184G>A (p.Glu62Lys)
c.211G>A (p.Glu71Lys)
n.258-671G>A
n.306G>A
n.457G>A
c.271G>A (p.Glu91Lys)
c.310G>A (p.Glu104Lys)
c.160G>A (p.Glu54Lys)
n.684G>A
9g.113391605C>ACA466758253ALADc.183G>T (p.Leu61=)
c.210G>T (p.Leu70=)
n.258-672G>T
n.305G>T
n.456G>T
c.270G>T (p.Leu90=)
c.309G>T (p.Leu103=)
c.159G>T (p.Leu53=)
n.683G>T
9g.113391605C>GCA466758254ALADc.183G>C (p.Leu61=)
c.210G>C (p.Leu70=)
n.258-672G>C
n.305G>C
n.456G>C
c.270G>C (p.Leu90=)
c.309G>C (p.Leu103=)
c.159G>C (p.Leu53=)
n.683G>C
9g.113391605C>TCA466758255ALADc.183G>A (p.Leu61=)
c.210G>A (p.Leu70=)
n.258-672G>A
n.305G>A
n.456G>A
c.270G>A (p.Leu90=)
c.309G>A (p.Leu103=)
c.159G>A (p.Leu53=)
n.683G>A
 gnomAD v2 gnomAD v4
9g.113391606A>CCA374565180ALADc.182T>G (p.Leu61Arg)
c.209T>G (p.Leu70Arg)
n.258-673T>G
n.304T>G
n.455T>G
c.269T>G (p.Leu90Arg)
c.308T>G (p.Leu103Arg)
c.158T>G (p.Leu53Arg)
n.682T>G
9g.113391606A>GCA374565181ALADc.182T>C (p.Leu61Pro)
c.209T>C (p.Leu70Pro)
n.258-673T>C
n.304T>C
n.455T>C
c.269T>C (p.Leu90Pro)
c.308T>C (p.Leu103Pro)
c.158T>C (p.Leu53Pro)
n.682T>C
9g.113391606A>TCA374565182ALADc.182T>A (p.Leu61Gln)
c.209T>A (p.Leu70Gln)
n.258-673T>A
n.304T>A
n.455T>A
c.269T>A (p.Leu90Gln)
c.308T>A (p.Leu103Gln)
c.158T>A (p.Leu53Gln)
n.682T>A
9g.113391607G>ACA466758258ALADc.181C>T (p.Leu61=)
c.208C>T (p.Leu70=)
n.258-674C>T
n.303C>T
n.454C>T
c.268C>T (p.Leu90=)
c.307C>T (p.Leu103=)
c.157C>T (p.Leu53=)
n.681C>T
 gnomAD v4
9g.113391607G>CCA374565183ALADc.181C>G (p.Leu61Val)
c.208C>G (p.Leu70Val)
n.258-674C>G
n.303C>G
n.454C>G
c.268C>G (p.Leu90Val)
c.307C>G (p.Leu103Val)
c.157C>G (p.Leu53Val)
n.681C>G
9g.113391607G>TCA374565184ALADc.181C>A (p.Leu61Met)
c.208C>A (p.Leu70Met)
n.258-674C>A
n.303C>A
n.454C>A
c.268C>A (p.Leu90Met)
c.307C>A (p.Leu103Met)
c.157C>A (p.Leu53Met)
n.681C>A
9g.113391608C>ACA466758259ALADc.180G>T (p.Arg60=)
c.207G>T (p.Arg69=)
n.258-675G>T
n.302G>T
n.453G>T
c.267G>T (p.Arg89=)
c.306G>T (p.Arg102=)
c.156G>T (p.Arg52=)
n.680G>T
9g.113391608C>GCA466758260ALADc.180G>C (p.Arg60=)
c.207G>C (p.Arg69=)
n.258-675G>C
n.302G>C
n.453G>C
c.267G>C (p.Arg89=)
c.306G>C (p.Arg102=)
c.156G>C (p.Arg52=)
n.680G>C
9g.113391608C>TCA466758261ALADc.180G>A (p.Arg60=)
c.207G>A (p.Arg69=)
n.258-675G>A
n.302G>A
n.453G>A
c.267G>A (p.Arg89=)
c.306G>A (p.Arg102=)
c.156G>A (p.Arg52=)
n.680G>A
9g.113391609C>ACA374565185ALADc.179G>T (p.Arg60Leu)
c.206G>T (p.Arg69Leu)
n.258-676G>T
n.301G>T
n.452G>T
c.266G>T (p.Arg89Leu)
c.305G>T (p.Arg102Leu)
c.155G>T (p.Arg52Leu)
n.679G>T
9g.113391609C=CA1873366761ALADc.179G= (p.Arg60=)
c.206G= (p.Arg69=)
n.258-676G=
n.301G=
n.452G=
c.266G= (p.Arg89=)
c.305G= (p.Arg102=)
c.155G= (p.Arg52=)
n.679G=
9g.113391609C>GCA374565186ALADc.179G>C (p.Arg60Pro)
c.206G>C (p.Arg69Pro)
n.258-676G>C
n.301G>C
n.452G>C
c.266G>C (p.Arg89Pro)
c.305G>C (p.Arg102Pro)
c.155G>C (p.Arg52Pro)
n.679G>C
 dbSNP
9g.113391609C>TCA5196578ALADc.179G>A (p.Arg60Gln)
c.206G>A (p.Arg69Gln)
n.258-676G>A
n.301G>A
n.452G>A
c.266G>A (p.Arg89Gln)
c.305G>A (p.Arg102Gln)
c.155G>A (p.Arg52Gln)
n.679G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391610G>ACA374565187ALADc.178C>T (p.Arg60Trp)
c.205C>T (p.Arg69Trp)
n.258-677C>T
n.300C>T
n.451C>T
c.265C>T (p.Arg89Trp)
c.304C>T (p.Arg102Trp)
c.154C>T (p.Arg52Trp)
n.678C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.113391610G>CCA374565188ALADc.178C>G (p.Arg60Gly)
c.205C>G (p.Arg69Gly)
n.258-677C>G
n.300C>G
n.451C>G
c.265C>G (p.Arg89Gly)
c.304C>G (p.Arg102Gly)
c.154C>G (p.Arg52Gly)
n.678C>G
9g.113391610G=CA1873366762ALADc.178C= (p.Arg60=)
c.205C= (p.Arg69=)
n.258-677C=
n.300C=
n.451C=
c.265C= (p.Arg89=)
c.304C= (p.Arg102=)
c.154C= (p.Arg52=)
n.678C=
9g.113391610G>TCA466758266ALADc.178C>A (p.Arg60=)
c.205C>A (p.Arg69=)
n.258-677C>A
n.300C>A
n.451C>A
c.265C>A (p.Arg89=)
c.304C>A (p.Arg102=)
c.154C>A (p.Arg52=)
n.678C>A
9g.113391610_113391611insAGGTGCTCTCCCTGTGCCCAACAACA2503633834ALADc.177_178insTTGTTGGGCACAGGGAGAGCACCT (p.Lys59_Arg60insLeuLeuGlyThrGlyArgAlaPro)
c.204_205insTTGTTGGGCACAGGGAGAGCACCT (p.Lys68_Arg69insLeuLeuGlyThrGlyArgAlaPro)
n.258-678_258-677insTTGTTGGGCACAGGGAGAGCACCT
n.299_300insTTGTTGGGCACAGGGAGAGCACCT
n.450_451insTTGTTGGGCACAGGGAGAGCACCT
c.264_265insTTGTTGGGCACAGGGAGAGCACCT (p.Lys88_Arg89insLeuLeuGlyThrGlyArgAlaPro)
c.303_304insTTGTTGGGCACAGGGAGAGCACCT (p.Lys101_Arg102insLeuLeuGlyThrGlyArgAlaPro)
c.153_154insTTGTTGGGCACAGGGAGAGCACCT (p.Lys51_Arg52insLeuLeuGlyThrGlyArgAlaPro)
n.677_678insTTGTTGGGCACAGGGAGAGCACCT
9g.113391611C>ACA374565189ALADc.177G>T (p.Lys59Asn)
c.204G>T (p.Lys68Asn)
n.258-678G>T
n.299G>T
n.450G>T
c.264G>T (p.Lys88Asn)
c.303G>T (p.Lys101Asn)
c.153G>T (p.Lys51Asn)
n.677G>T
9g.113391611C=CA1630847959ALADc.177G= (p.Lys59=)
c.204G= (p.Lys68=)
n.258-678G=
n.299G=
n.450G=
c.264G= (p.Lys88=)
c.303G= (p.Lys101=)
c.153G= (p.Lys51=)
n.677G=
9g.113391611C>GCA126933ALADc.177G>C (p.Lys59Asn)
c.204G>C (p.Lys68Asn)
n.258-678G>C
n.299G>C
n.450G>C
c.264G>C (p.Lys88Asn)
c.303G>C (p.Lys101Asn)
c.153G>C (p.Lys51Asn)
n.677G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.113391611C>TCA466758267ALADc.177G>A (p.Lys59=)
c.204G>A (p.Lys68=)
n.258-678G>A
n.299G>A
n.450G>A
c.264G>A (p.Lys88=)
c.303G>A (p.Lys101=)
c.153G>A (p.Lys51=)
n.677G>A
9g.113391612T>ACA374565190ALADc.176A>T (p.Lys59Met)
c.203A>T (p.Lys68Met)
n.258-679A>T
n.298A>T
n.449A>T
c.263A>T (p.Lys88Met)
c.302A>T (p.Lys101Met)
c.152A>T (p.Lys51Met)
n.676A>T
9g.113391612T>CCA374565191ALADc.176A>G (p.Lys59Arg)
c.203A>G (p.Lys68Arg)
n.258-679A>G
n.298A>G
n.449A>G
c.263A>G (p.Lys88Arg)
c.302A>G (p.Lys101Arg)
c.152A>G (p.Lys51Arg)
n.676A>G
9g.113391612T>GCA374565192ALADc.176A>C (p.Lys59Thr)
c.203A>C (p.Lys68Thr)
n.258-679A>C
n.298A>C
n.449A>C
c.263A>C (p.Lys88Thr)
c.302A>C (p.Lys101Thr)
c.152A>C (p.Lys51Thr)
n.676A>C
9g.113391613T>ACA374565193ALADc.175A>T (p.Lys59Ter)
c.202A>T (p.Lys68Ter)
n.258-680A>T
n.297A>T
n.448A>T
c.262A>T (p.Lys88Ter)
c.301A>T (p.Lys101Ter)
c.151A>T (p.Lys51Ter)
n.675A>T
9g.113391613T>CCA374565194ALADc.175A>G (p.Lys59Glu)
c.202A>G (p.Lys68Glu)
n.258-680A>G
n.297A>G
n.448A>G
c.262A>G (p.Lys88Glu)
c.301A>G (p.Lys101Glu)
c.151A>G (p.Lys51Glu)
n.675A>G
9g.113391613T>GCA374565195ALADc.175A>C (p.Lys59Gln)
c.202A>C (p.Lys68Gln)
n.258-680A>C
n.297A>C
n.448A>C
c.262A>C (p.Lys88Gln)
c.301A>C (p.Lys101Gln)
c.151A>C (p.Lys51Gln)
n.675A>C
9g.113391613_113391614insGCAGGGCATTTGGAACAATCGCCACGATGCTCCTTGGAACTCTGACGTGCA2510865030ALADc.174_175insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC (p.Lys59HisfsTer?)
c.201_202insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC (p.Lys68HisfsTer?)
n.258-681_258-680insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC
n.296_297insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC
n.447_448insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC
c.261_262insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC (p.Lys88HisfsTer?)
c.300_301insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC (p.Lys101HisfsTer?)
c.150_151insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC (p.Lys51HisfsTer?)
n.674_675insCACGTCAGAGTTCCAAGGAGCATCGTGGCGATTGTTCCAAATGCCCTGC
9g.113391614C>ACA466758271ALADc.174G>T (p.Val58=)
c.201G>T (p.Val67=)
n.258-681G>T
n.296G>T
n.447G>T
c.261G>T (p.Val87=)
c.300G>T (p.Val100=)
c.150G>T (p.Val50=)
n.674G>T
9g.113391614C=CA1873366763ALADc.174G= (p.Val58=)
c.201G= (p.Val67=)
n.258-681G=
n.296G=
n.447G=
c.261G= (p.Val87=)
c.300G= (p.Val100=)
c.150G= (p.Val50=)
n.674G=
9g.113391614C>GCA466758272ALADc.174G>C (p.Val58=)
c.201G>C (p.Val67=)
n.258-681G>C
n.296G>C
n.447G>C
c.261G>C (p.Val87=)
c.300G>C (p.Val100=)
c.150G>C (p.Val50=)
n.674G>C
9g.113391614C>TCA466758273ALADc.174G>A (p.Val58=)
c.201G>A (p.Val67=)
n.258-681G>A
n.296G>A
n.447G>A
c.261G>A (p.Val87=)
c.300G>A (p.Val100=)
c.150G>A (p.Val50=)
n.674G>A
 dbSNP gnomAD v3 gnomAD v4
9g.113391615A>CCA374565197ALADc.173T>G (p.Val58Gly)
c.200T>G (p.Val67Gly)
n.258-682T>G
n.295T>G
n.446T>G
c.260T>G (p.Val87Gly)
c.299T>G (p.Val100Gly)
c.149T>G (p.Val50Gly)
n.673T>G
 gnomAD v4
9g.113391615A>GCA374565198ALADc.173T>C (p.Val58Ala)
c.200T>C (p.Val67Ala)
n.258-682T>C
n.295T>C
n.446T>C
c.260T>C (p.Val87Ala)
c.299T>C (p.Val100Ala)
c.149T>C (p.Val50Ala)
n.673T>C
9g.113391615A>TCA374565196ALADc.173T>A (p.Val58Glu)
c.200T>A (p.Val67Glu)
n.258-682T>A
n.295T>A
n.446T>A
c.260T>A (p.Val87Glu)
c.299T>A (p.Val100Glu)
c.149T>A (p.Val50Glu)
n.673T>A
9g.113391616C>ACA374565201ALADc.172G>T (p.Val58Leu)
c.199G>T (p.Val67Leu)
n.258-683G>T
n.294G>T
n.445G>T
c.259G>T (p.Val87Leu)
c.298G>T (p.Val100Leu)
c.148G>T (p.Val50Leu)
n.672G>T
9g.113391616C=CA1873366764ALADc.172G= (p.Val58=)
c.199G= (p.Val67=)
n.258-683G=
n.294G=
n.445G=
c.259G= (p.Val87=)
c.298G= (p.Val100=)
c.148G= (p.Val50=)
n.672G=
9g.113391616C>GCA374565199ALADc.172G>C (p.Val58Leu)
c.199G>C (p.Val67Leu)
n.258-683G>C
n.294G>C
n.445G>C
c.259G>C (p.Val87Leu)
c.298G>C (p.Val100Leu)
c.148G>C (p.Val50Leu)
n.672G>C
9g.113391616C>TCA374565200ALADc.172G>A (p.Val58Met)
c.199G>A (p.Val67Met)
n.258-683G>A
n.294G>A
n.445G>A
c.259G>A (p.Val87Met)
c.298G>A (p.Val100Met)
c.148G>A (p.Val50Met)
n.672G>A
 dbSNP gnomAD v2 gnomAD v4
9g.113391617A=CA1873366765ALADc.171T= (p.Gly57=)
c.198T= (p.Gly66=)
n.258-684T=
n.293T=
n.444T=
c.258T= (p.Gly86=)
c.297T= (p.Gly99=)
c.147T= (p.Gly49=)
n.671T=
9g.113391617A>CCA198548061ALADc.171T>G (p.Gly57=)
c.198T>G (p.Gly66=)
n.258-684T>G
n.293T>G
n.444T>G
c.258T>G (p.Gly86=)
c.297T>G (p.Gly99=)
c.147T>G (p.Gly49=)
n.671T>G
 dbSNP gnomAD v4
9g.113391617A>GCA466758277ALADc.171T>C (p.Gly57=)
c.198T>C (p.Gly66=)
n.258-684T>C
n.293T>C
n.444T>C
c.258T>C (p.Gly86=)
c.297T>C (p.Gly99=)
c.147T>C (p.Gly49=)
n.671T>C
9g.113391617A>TCA466758278ALADc.171T>A (p.Gly57=)
c.198T>A (p.Gly66=)
n.258-684T>A
n.293T>A
n.444T>A
c.258T>A (p.Gly86=)
c.297T>A (p.Gly99=)
c.147T>A (p.Gly49=)
n.671T>A
9g.113391618C>ACA374565202ALADc.170G>T (p.Gly57Val)
c.197G>T (p.Gly66Val)
n.258-685G>T
n.292G>T
n.443G>T
c.257G>T (p.Gly86Val)
c.296G>T (p.Gly99Val)
c.146G>T (p.Gly49Val)
n.670G>T
9g.113391618C>GCA374565203ALADc.170G>C (p.Gly57Ala)
c.197G>C (p.Gly66Ala)
n.258-685G>C
n.292G>C
n.443G>C
c.257G>C (p.Gly86Ala)
c.296G>C (p.Gly99Ala)
c.146G>C (p.Gly49Ala)
n.670G>C
9g.113391618C>TCA374565204ALADc.170G>A (p.Gly57Asp)
c.197G>A (p.Gly66Asp)
n.258-685G>A
n.292G>A
n.443G>A
c.257G>A (p.Gly86Asp)
c.296G>A (p.Gly99Asp)
c.146G>A (p.Gly49Asp)
n.670G>A
9g.113391618_113391619insAGGTACGGTGTGAAGCA2691297043ALADc.169_170insCTTCACACCGTACCT (p.Gly57delinsAlaSerHisArgThrCys)
c.196_197insCTTCACACCGTACCT (p.Gly66delinsAlaSerHisArgThrCys)
n.258-686_258-685insCTTCACACCGTACCT
n.291_292insCTTCACACCGTACCT
n.442_443insCTTCACACCGTACCT
c.256_257insCTTCACACCGTACCT (p.Gly86delinsAlaSerHisArgThrCys)
c.295_296insCTTCACACCGTACCT (p.Gly99delinsAlaSerHisArgThrCys)
c.145_146insCTTCACACCGTACCT (p.Gly49delinsAlaSerHisArgThrCys)
n.669_670insCTTCACACCGTACCT
 gnomAD v4
9g.113391618_113391619insAGGTATGGTGTGAAGCA2691297044ALADc.169_170insCTTCACACCATACCT (p.Gly57delinsAlaSerHisHisThrCys)
c.196_197insCTTCACACCATACCT (p.Gly66delinsAlaSerHisHisThrCys)
n.258-686_258-685insCTTCACACCATACCT
n.291_292insCTTCACACCATACCT
n.442_443insCTTCACACCATACCT
c.256_257insCTTCACACCATACCT (p.Gly86delinsAlaSerHisHisThrCys)
c.295_296insCTTCACACCATACCT (p.Gly99delinsAlaSerHisHisThrCys)
c.145_146insCTTCACACCATACCT (p.Gly49delinsAlaSerHisHisThrCys)
n.669_670insCTTCACACCATACCT
 gnomAD v4
9g.113391619C>ACA374565207ALADc.169G>T (p.Gly57Cys)
c.196G>T (p.Gly66Cys)
n.258-686G>T
n.291G>T
n.442G>T
c.256G>T (p.Gly86Cys)
c.295G>T (p.Gly99Cys)
c.145G>T (p.Gly49Cys)
n.669G>T
9g.113391619C=CA1873366766ALADc.169G= (p.Gly57=)
c.196G= (p.Gly66=)
n.258-686G=
n.291G=
n.442G=
c.256G= (p.Gly86=)
c.295G= (p.Gly99=)
c.145G= (p.Gly49=)
n.669G=
9g.113391619C>GCA374565206ALADc.169G>C (p.Gly57Arg)
c.196G>C (p.Gly66Arg)
n.258-686G>C
n.291G>C
n.442G>C
c.256G>C (p.Gly86Arg)
c.295G>C (p.Gly99Arg)
c.145G>C (p.Gly49Arg)
n.669G>C
9g.113391619C>TCA374565205ALADc.169G>A (p.Gly57Ser)
c.196G>A (p.Gly66Ser)
n.258-686G>A
n.291G>A
n.442G>A
c.256G>A (p.Gly86Ser)
c.295G>A (p.Gly99Ser)
c.145G>A (p.Gly49Ser)
n.669G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.113391619_113391620insCACACAGGTACGGTGTGACA2691297049ALADc.168_169insTCACACCGTACCTGTGTG (p.Tyr56_Gly57insSerHisArgThrCysVal)
c.195_196insTCACACCGTACCTGTGTG (p.Tyr65_Gly66insSerHisArgThrCysVal)
n.258-687_258-686insTCACACCGTACCTGTGTG
n.290_291insTCACACCGTACCTGTGTG
n.441_442insTCACACCGTACCTGTGTG
c.255_256insTCACACCGTACCTGTGTG (p.Tyr85_Gly86insSerHisArgThrCysVal)
c.294_295insTCACACCGTACCTGTGTG (p.Tyr98_Gly99insSerHisArgThrCysVal)
c.144_145insTCACACCGTACCTGTGTG (p.Tyr48_Gly49insSerHisArgThrCysVal)
n.668_669insTCACACCGTACCTGTGTG
 gnomAD v4
9g.113391619_113391620insCACACAGGTATGGTGTGACA2691297050ALADc.168_169insTCACACCATACCTGTGTG (p.Tyr56_Gly57insSerHisHisThrCysVal)
c.195_196insTCACACCATACCTGTGTG (p.Tyr65_Gly66insSerHisHisThrCysVal)
n.258-687_258-686insTCACACCATACCTGTGTG
n.290_291insTCACACCATACCTGTGTG
n.441_442insTCACACCATACCTGTGTG
c.255_256insTCACACCATACCTGTGTG (p.Tyr85_Gly86insSerHisHisThrCysVal)
c.294_295insTCACACCATACCTGTGTG (p.Tyr98_Gly99insSerHisHisThrCysVal)
c.144_145insTCACACCATACCTGTGTG (p.Tyr48_Gly49insSerHisHisThrCysVal)
n.668_669insTCACACCATACCTGTGTG
 gnomAD v4
9g.113391620A=CA1873366767ALADc.168T= (p.Tyr56=)
c.195T= (p.Tyr65=)
n.258-687T=
n.290T=
n.441T=
c.255T= (p.Tyr85=)
c.294T= (p.Tyr98=)
c.144T= (p.Tyr48=)
n.668T=
9g.113391620A>CCA374565208ALADc.168T>G (p.Tyr56Ter)
c.195T>G (p.Tyr65Ter)
n.258-687T>G
n.290T>G
n.441T>G
c.255T>G (p.Tyr85Ter)
c.294T>G (p.Tyr98Ter)
c.144T>G (p.Tyr48Ter)
n.668T>G
9g.113391620A>GCA5196579ALADc.168T>C (p.Tyr56=)
c.195T>C (p.Tyr65=)
n.258-687T>C
n.290T>C
n.441T>C
c.255T>C (p.Tyr85=)
c.294T>C (p.Tyr98=)
c.144T>C (p.Tyr48=)
n.668T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.113391620A>TCA374565209ALADc.168T>A (p.Tyr56Ter)
c.195T>A (p.Tyr65Ter)
n.258-687T>A
n.290T>A
n.441T>A
c.255T>A (p.Tyr85Ter)
c.294T>A (p.Tyr98Ter)
c.144T>A (p.Tyr48Ter)
n.668T>A
 dbSNP gnomAD v4
9g.113391620_113391621insACATCAATGTGCAAATGAACCA2567183619ALADc.167_168insGTTCATTTGCACATTGATGT (p.Tyr56Ter)
c.194_195insGTTCATTTGCACATTGATGT (p.Tyr65Ter)
n.258-688_258-687insGTTCATTTGCACATTGATGT
n.289_290insGTTCATTTGCACATTGATGT
n.440_441insGTTCATTTGCACATTGATGT
c.254_255insGTTCATTTGCACATTGATGT (p.Tyr85Ter)
c.293_294insGTTCATTTGCACATTGATGT (p.Tyr98Ter)
c.143_144insGTTCATTTGCACATTGATGT (p.Tyr48Ter)
n.667_668insGTTCATTTGCACATTGATGT
9g.113391621T>ACA374565210ALADc.167A>T (p.Tyr56Phe)
c.194A>T (p.Tyr65Phe)
n.258-688A>T
n.289A>T
n.440A>T
c.254A>T (p.Tyr85Phe)
c.293A>T (p.Tyr98Phe)
c.143A>T (p.Tyr48Phe)
n.667A>T
9g.113391621T>CCA374565211ALADc.167A>G (p.Tyr56Cys)
c.194A>G (p.Tyr65Cys)
n.258-688A>G
n.289A>G
n.440A>G
c.254A>G (p.Tyr85Cys)
c.293A>G (p.Tyr98Cys)
c.143A>G (p.Tyr48Cys)
n.667A>G
 dbSNP gnomAD v4
9g.113391621T>GCA374565212ALADc.167A>C (p.Tyr56Ser)
c.194A>C (p.Tyr65Ser)
n.258-688A>C
n.289A>C
n.440A>C
c.254A>C (p.Tyr85Ser)
c.293A>C (p.Tyr98Ser)
c.143A>C (p.Tyr48Ser)
n.667A>C
9g.113391621T=CA1873366768ALADc.167A= (p.Tyr56=)
c.194A= (p.Tyr65=)
n.258-688A=
n.289A=
n.440A=
c.254A= (p.Tyr85=)
c.293A= (p.Tyr98=)
c.143A= (p.Tyr48=)
n.667A=
9g.113391622A=CA1873366769ALADc.166T= (p.Tyr56=)
c.193T= (p.Tyr65=)
n.258-689T=
n.288T=
n.439T=
c.253T= (p.Tyr85=)
c.292T= (p.Tyr98=)
c.142T= (p.Tyr48=)
n.666T=
9g.113391622A>CCA374565213ALADc.166T>G (p.Tyr56Asp)
c.193T>G (p.Tyr65Asp)
n.258-689T>G
n.288T>G
n.439T>G
c.253T>G (p.Tyr85Asp)
c.292T>G (p.Tyr98Asp)
c.142T>G (p.Tyr48Asp)
n.666T>G
9g.113391622A>GCA374565215ALADc.166T>C (p.Tyr56His)
c.193T>C (p.Tyr65His)
n.258-689T>C
n.288T>C
n.439T>C
c.253T>C (p.Tyr85His)
c.292T>C (p.Tyr98His)
c.142T>C (p.Tyr48His)
n.666T>C
 dbSNP gnomAD v2 gnomAD v4
9g.113391622A>TCA374565214ALADc.166T>A (p.Tyr56Asn)
c.193T>A (p.Tyr65Asn)
n.258-689T>A
n.288T>A
n.439T>A
c.253T>A (p.Tyr85Asn)
c.292T>A (p.Tyr98Asn)
c.142T>A (p.Tyr48Asn)
n.666T>A
9g.113391622_113391623insTTGGCCCGCAGAACCTACAAACCTTTCA2502209702ALADc.165_166insAAAGGTTTGTAGGTTCTGCGGGCCAA (p.Tyr56LysfsTer4)
c.192_193insAAAGGTTTGTAGGTTCTGCGGGCCAA (p.Tyr65LysfsTer4)
n.258-690_258-689insAAAGGTTTGTAGGTTCTGCGGGCCAA
n.287_288insAAAGGTTTGTAGGTTCTGCGGGCCAA
n.438_439insAAAGGTTTGTAGGTTCTGCGGGCCAA
c.252_253insAAAGGTTTGTAGGTTCTGCGGGCCAA (p.Tyr85LysfsTer4)
c.291_292insAAAGGTTTGTAGGTTCTGCGGGCCAA (p.Tyr98LysfsTer4)
c.141_142insAAAGGTTTGTAGGTTCTGCGGGCCAA (p.Tyr48LysfsTer4)
n.665_666insAAAGGTTTGTAGGTTCTGCGGGCCAA
9g.113391623C>ACA374565216ALADc.165G>T (p.Arg55Ser)
c.192G>T (p.Arg64Ser)
n.258-690G>T
n.287G>T
n.438G>T
c.252G>T (p.Arg84Ser)
c.291G>T (p.Arg97Ser)
c.141G>T (p.Thr47=)
n.665G>T
 dbSNP gnomAD v2 gnomAD v4
9g.113391623C=CA1873366770ALADc.165G= (p.Arg55=)
c.192G= (p.Arg64=)
n.258-690G=
n.287G=
n.438G=
c.252G= (p.Arg84=)
c.291G= (p.Arg97=)
c.141G= (p.Thr47=)
n.665G=
9g.113391623C>GCA374565217ALADc.165G>C (p.Arg55Ser)
c.192G>C (p.Arg64Ser)
n.258-690G>C
n.287G>C
n.438G>C
c.252G>C (p.Arg84Ser)
c.291G>C (p.Arg97Ser)
c.141G>C (p.Thr47=)
n.665G>C
9g.113391623C>TCA466758288ALADc.165G>A (p.Arg55=)
c.192G>A (p.Arg64=)
n.258-690G>A
n.287G>A
n.438G>A
c.252G>A (p.Arg84=)
c.291G>A (p.Arg97=)
c.141G>A (p.Thr47=)
n.665G>A
 dbSNP gnomAD v2 gnomAD v4
9g.113391624C>ACA374565218ALADc.165-1G>T (n.165-1G>T)
c.192-1G>T (n.192-1G>T)
n.258-691G>T
n.287-1G>T
n.438-1G>T
c.252-1G>T (n.252-1G>T)
c.291-1G>T (n.291-1G>T)
c.141-1G>T (n.141-1G>T)
n.665-1G>T
 gnomAD v4
9g.113391624C>GCA374565219ALADc.165-1G>C (n.165-1G>C)
c.192-1G>C (n.192-1G>C)
n.258-691G>C
n.287-1G>C
n.438-1G>C
c.252-1G>C (n.252-1G>C)
c.291-1G>C (n.291-1G>C)
c.141-1G>C (n.141-1G>C)
n.665-1G>C
9g.113391624C>TCA374565220ALADc.165-1G>A (n.165-1G>A)
c.192-1G>A (n.192-1G>A)
n.258-691G>A
n.287-1G>A
n.438-1G>A
c.252-1G>A (n.252-1G>A)
c.291-1G>A (n.291-1G>A)
c.141-1G>A (n.141-1G>A)
n.665-1G>A
 gnomAD v4
9g.113391625T>ACA374565221ALADc.165-2A>T (n.165-2A>T)
c.192-2A>T (n.192-2A>T)
n.258-692A>T
n.287-2A>T
n.438-2A>T
c.252-2A>T (n.252-2A>T)
c.291-2A>T (n.291-2A>T)
c.141-2A>T (n.141-2A>T)
n.665-2A>T
9g.113391625T>CCA374565222ALADc.165-2A>G (n.165-2A>G)
c.192-2A>G (n.192-2A>G)
n.258-692A>G
n.287-2A>G
n.438-2A>G
c.252-2A>G (n.252-2A>G)
c.291-2A>G (n.291-2A>G)
c.141-2A>G (n.141-2A>G)
n.665-2A>G
9g.113391625T>GCA374565223ALADc.165-2A>C (n.165-2A>C)
c.192-2A>C (n.192-2A>C)
n.258-692A>C
n.287-2A>C
n.438-2A>C
c.252-2A>C (n.252-2A>C)
c.291-2A>C (n.291-2A>C)
c.141-2A>C (n.141-2A>C)
n.665-2A>C
9g.113391634_113391639dupCA2691297079ALADc.165-8_165-3dup (n.165-8_165-3dup)
c.192-8_192-3dup (n.192-8_192-3dup)
n.258-698_258-693dup
n.287-8_287-3dup
n.438-8_438-3dup
c.252-8_252-3dup (n.252-8_252-3dup)
c.291-8_291-3dup (n.291-8_291-3dup)
c.141-8_141-3dup (n.141-8_141-3dup)
n.665-8_665-3dup
 gnomAD v4
9g.113391634_113391639delCA2691297082ALADc.165-8_165-3del (n.165-8_165-3del)
c.192-8_192-3del (n.192-8_192-3del)
n.258-698_258-693del
n.287-8_287-3del
n.438-8_438-3del
c.252-8_252-3del (n.252-8_252-3del)
c.291-8_291-3del (n.291-8_291-3del)
c.141-8_141-3del (n.141-8_141-3del)
n.665-8_665-3del
 gnomAD v4
9g.113391628G>ACA2691297084ALADc.165-5C>T (n.165-5C>T)
c.192-5C>T (n.192-5C>T)
n.258-695C>T
n.287-5C>T
n.438-5C>T
c.252-5C>T (n.252-5C>T)
c.291-5C>T (n.291-5C>T)
c.141-5C>T (n.141-5C>T)
n.665-5C>T
 gnomAD v4
9g.113391629_113391630insTGGGTGTGTTTCA2785629626ALADc.165-6_165-5insAACACACCCAA (n.165-6_165-5insAACACACCCAA)
c.192-6_192-5insAACACACCCAA (n.192-6_192-5insAACACACCCAA)
n.258-696_258-695insAACACACCCAA
n.287-6_287-5insAACACACCCAA
n.438-6_438-5insAACACACCCAA
c.252-6_252-5insAACACACCCAA (n.252-6_252-5insAACACACCCAA)
c.291-6_291-5insAACACACCCAA (n.291-6_291-5insAACACACCCAA)
c.141-6_141-5insAACACACCCAA (n.141-6_141-5insAACACACCCAA)
n.665-6_665-5insAACACACCCAA
9g.113391629dupCA2785629625ALADc.165-6dup (n.165-6dup)
c.192-6dup (n.192-6dup)
n.258-696dup
n.287-6dup
n.438-6dup
c.252-6dup (n.252-6dup)
c.291-6dup (n.291-6dup)
c.141-6dup (n.141-6dup)
n.665-6dup
9g.113391631G>TCA2691297086ALADc.165-8C>A (n.165-8C>A)
c.192-8C>A (n.192-8C>A)
n.258-698C>A
n.287-8C>A
n.438-8C>A
c.252-8C>A (n.252-8C>A)
c.291-8C>A (n.291-8C>A)
c.141-8C>A (n.141-8C>A)
n.665-8C>A
 gnomAD v4
9g.113391632G>TCA2691297087ALADc.165-9C>A (n.165-9C>A)
c.192-9C>A (n.192-9C>A)
n.258-699C>A
n.287-9C>A
n.438-9C>A
c.252-9C>A (n.252-9C>A)
c.291-9C>A (n.291-9C>A)
c.141-9C>A (n.141-9C>A)
n.665-9C>A
 gnomAD v4
9g.113391633T>ACA2691297091ALADc.165-10A>T (n.165-10A>T)
c.192-10A>T (n.192-10A>T)
n.258-700A>T
n.287-10A>T
n.438-10A>T
c.252-10A>T (n.252-10A>T)
c.291-10A>T (n.291-10A>T)
c.141-10A>T (n.141-10A>T)
n.665-10A>T
 gnomAD v4
9g.113391633T>CCA5196580ALADc.165-10A>G (n.165-10A>G)
c.192-10A>G (n.192-10A>G)
n.258-700A>G
n.287-10A>G
n.438-10A>G
c.252-10A>G (n.252-10A>G)
c.291-10A>G (n.291-10A>G)
c.141-10A>G (n.141-10A>G)
n.665-10A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.113391633T=CA1873366771ALADc.165-10A= (n.165-10A=)
c.192-10A= (n.192-10A=)
n.258-700A=
n.287-10A=
n.438-10A=
c.252-10A= (n.252-10A=)
c.291-10A= (n.291-10A=)
c.141-10A= (n.141-10A=)
n.665-10A=
9g.113391634G>ACA212990ALADc.165-11C>T (n.165-11C>T)
c.192-11C>T (n.192-11C>T)
n.258-701C>T
n.287-11C>T
n.438-11C>T
c.252-11C>T (n.252-11C>T)
c.291-11C>T (n.291-11C>T)
c.141-11C>T (n.141-11C>T)
n.665-11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.113391634G=CA1873366772ALADc.165-11C= (n.165-11C=)
c.192-11C= (n.192-11C=)
n.258-701C=
n.287-11C=
n.438-11C=
c.252-11C= (n.252-11C=)
c.291-11C= (n.291-11C=)
c.141-11C= (n.141-11C=)
n.665-11C=
9g.113391634G>TCA1873366773ALADc.165-11C>A (n.165-11C>A)
c.192-11C>A (n.192-11C>A)
n.258-701C>A
n.287-11C>A
n.438-11C>A
c.252-11C>A (n.252-11C>A)
c.291-11C>A (n.291-11C>A)
c.141-11C>A (n.141-11C>A)
n.665-11C>A
 ClinVar dbSNP gnomAD v4

Number of alleles fetched