Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.124400872A>CCA378633569OATc.1127T>G (p.Leu376Ter)
n.637T>G
c.713T>G (p.Leu238Ter)
c.806T>G (p.Leu269Ter)
c.527T>G (p.Leu176Ter)
10g.124400872A>GCA378633570OATc.1127T>C (p.Leu376Ser)
n.637T>C
c.713T>C (p.Leu238Ser)
c.806T>C (p.Leu269Ser)
c.527T>C (p.Leu176Ser)
10g.124400872A>TCA378633571OATc.1127T>A (p.Leu376Ter)
n.637T>A
c.713T>A (p.Leu238Ter)
c.806T>A (p.Leu269Ter)
c.527T>A (p.Leu176Ter)
 gnomAD v4
10g.124400873A>CCA378633572OATc.1126T>G (p.Leu376Val)
n.636T>G
c.712T>G (p.Leu238Val)
c.805T>G (p.Leu269Val)
c.526T>G (p.Leu176Val)
10g.124400873A>GCA471762613OATc.1126T>C (p.Leu376=)
n.636T>C
c.712T>C (p.Leu238=)
c.805T>C (p.Leu269=)
c.526T>C (p.Leu176=)
 ClinVar dbSNP
10g.124400873A>TCA378633573OATc.1126T>A (p.Leu376Ile)
n.636T>A
c.712T>A (p.Leu238Ile)
c.805T>A (p.Leu269Ile)
c.526T>A (p.Leu176Ile)
10g.124400874T>ACA471762614OATc.1125A>T (p.Gly375=)
n.635A>T
c.711A>T (p.Gly237=)
c.804A>T (p.Gly268=)
c.525A>T (p.Gly175=)
10g.124400874T>CCA471762615OATc.1125A>G (p.Gly375=)
n.635A>G
c.711A>G (p.Gly237=)
c.804A>G (p.Gly268=)
c.525A>G (p.Gly175=)
 ClinVar dbSNP gnomAD v4
10g.124400874T>GCA471762616OATc.1125A>C (p.Gly375=)
n.635A>C
c.711A>C (p.Gly237=)
c.804A>C (p.Gly268=)
c.525A>C (p.Gly175=)
10g.124400874T=CA1942337004OATc.1125A= (p.Gly375=)
n.635A=
c.711A= (p.Gly237=)
c.804A= (p.Gly268=)
c.525A= (p.Gly175=)
10g.124400875C>ACA378633574OATc.1124G>T (p.Gly375Val)
n.634G>T
c.710G>T (p.Gly237Val)
c.803G>T (p.Gly268Val)
c.524G>T (p.Gly175Val)
10g.124400875C=CA1942337005OATc.1124G= (p.Gly375=)
n.634G=
c.710G= (p.Gly237=)
c.803G= (p.Gly268=)
c.524G= (p.Gly175=)
10g.124400875C>GCA113949OATc.1124G>C (p.Gly375Ala)
n.634G>C
c.710G>C (p.Gly237Ala)
c.803G>C (p.Gly268Ala)
c.524G>C (p.Gly175Ala)
 ClinVar dbSNP
10g.124400875C>TCA378633575OATc.1124G>A (p.Gly375Glu)
n.634G>A
c.710G>A (p.Gly237Glu)
c.803G>A (p.Gly268Glu)
c.524G>A (p.Gly175Glu)
 gnomAD v4
10g.124400876C>ACA378633576OATc.1123G>T (p.Gly375Ter)
n.633G>T
c.709G>T (p.Gly237Ter)
c.802G>T (p.Gly268Ter)
c.523G>T (p.Gly175Ter)
 gnomAD v4
10g.124400876C>GCA378633577OATc.1123G>C (p.Gly375Arg)
n.633G>C
c.709G>C (p.Gly237Arg)
c.802G>C (p.Gly268Arg)
c.523G>C (p.Gly175Arg)
10g.124400876C>TCA378633578OATc.1123G>A (p.Gly375Arg)
n.633G>A
c.709G>A (p.Gly237Arg)
c.802G>A (p.Gly268Arg)
c.523G>A (p.Gly175Arg)
10g.124400876_124400877delinsCTCA1942337006OATc.1122_1123delinsAG (p.Lys374=)
n.632_633delinsAG
c.708_709delinsAG (p.Lys236=)
c.801_802delinsAG (p.Lys267=)
c.522_523delinsAG (p.Lys174=)
10g.124400877T>ACA378633580OATc.1122A>T (p.Lys374Asn)
n.632A>T
c.708A>T (p.Lys236Asn)
c.801A>T (p.Lys267Asn)
c.522A>T (p.Lys174Asn)
10g.124400877T>CCA471762617OATc.1122A>G (p.Lys374=)
n.632A>G
c.708A>G (p.Lys236=)
c.801A>G (p.Lys267=)
c.522A>G (p.Lys174=)
 gnomAD v4
10g.124400877T>GCA378633579OATc.1122A>C (p.Lys374Asn)
n.632A>C
c.708A>C (p.Lys236Asn)
c.801A>C (p.Lys267Asn)
c.522A>C (p.Lys174Asn)
10g.124400880delCA5733327OATc.1122del (p.Gly375AspfsTer3)
n.632del
c.708del (p.Gly237AspfsTer3)
c.801del (p.Gly268AspfsTer3)
c.522del (p.Gly175AspfsTer3)
 dbSNP ExAC gnomAD v4
10g.124400878T>ACA378633583OATc.1121A>T (p.Lys374Ile)
n.631A>T
c.707A>T (p.Lys236Ile)
c.800A>T (p.Lys267Ile)
c.521A>T (p.Lys174Ile)
10g.124400878T>CCA378633581OATc.1121A>G (p.Lys374Arg)
n.631A>G
c.707A>G (p.Lys236Arg)
c.800A>G (p.Lys267Arg)
c.521A>G (p.Lys174Arg)
10g.124400878T>GCA378633582OATc.1121A>C (p.Lys374Thr)
n.631A>C
c.707A>C (p.Lys236Thr)
c.800A>C (p.Lys267Thr)
c.521A>C (p.Lys174Thr)
10g.124400879T>ACA378633584OATc.1120A>T (p.Lys374Ter)
n.630A>T
c.706A>T (p.Lys236Ter)
c.799A>T (p.Lys267Ter)
c.520A>T (p.Lys174Ter)
10g.124400879T>CCA378633585OATc.1120A>G (p.Lys374Glu)
n.630A>G
c.706A>G (p.Lys236Glu)
c.799A>G (p.Lys267Glu)
c.520A>G (p.Lys174Glu)
10g.124400879T>GCA378633586OATc.1120A>C (p.Lys374Gln)
n.630A>C
c.706A>C (p.Lys236Gln)
c.799A>C (p.Lys267Gln)
c.520A>C (p.Lys174Gln)
10g.124400880T>ACA471762618OATc.1119A>T (p.Gly373=)
n.629A>T
c.705A>T (p.Gly235=)
c.798A>T (p.Gly266=)
c.519A>T (p.Gly173=)
10g.124400880T>CCA471762619OATc.1119A>G (p.Gly373=)
n.629A>G
c.705A>G (p.Gly235=)
c.798A>G (p.Gly266=)
c.519A>G (p.Gly173=)
10g.124400880T>GCA471762620OATc.1119A>C (p.Gly373=)
n.629A>C
c.705A>C (p.Gly235=)
c.798A>C (p.Gly266=)
c.519A>C (p.Gly173=)
10g.124400881C>ACA378633587OATc.1118G>T (p.Gly373Val)
n.628G>T
c.704G>T (p.Gly235Val)
c.797G>T (p.Gly266Val)
c.518G>T (p.Gly173Val)
10g.124400881C=CA1942337007OATc.1118G= (p.Gly373=)
n.628G=
c.704G= (p.Gly235=)
c.797G= (p.Gly266=)
c.518G= (p.Gly173=)
10g.124400881C>GCA378633588OATc.1118G>C (p.Gly373Ala)
n.628G>C
c.704G>C (p.Gly235Ala)
c.797G>C (p.Gly266Ala)
c.518G>C (p.Gly173Ala)
10g.124400881C>TCA144134OATc.1118G>A (p.Gly373Glu)
n.628G>A
c.704G>A (p.Gly235Glu)
c.797G>A (p.Gly266Glu)
c.518G>A (p.Gly173Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.124400882C>ACA378633589OATc.1117G>T (p.Gly373Ter)
n.627G>T
c.703G>T (p.Gly235Ter)
c.796G>T (p.Gly266Ter)
c.517G>T (p.Gly173Ter)
10g.124400882C>GCA378633590OATc.1117G>C (p.Gly373Arg)
n.627G>C
c.703G>C (p.Gly235Arg)
c.796G>C (p.Gly266Arg)
c.517G>C (p.Gly173Arg)
10g.124400882C>TCA378633591OATc.1117G>A (p.Gly373Arg)
n.627G>A
c.703G>A (p.Gly235Arg)
c.796G>A (p.Gly266Arg)
c.517G>A (p.Gly173Arg)
10g.124400883T>ACA378633592OATc.1116A>T (p.Arg372Ser)
n.626A>T
c.702A>T (p.Arg234Ser)
c.795A>T (p.Arg265Ser)
c.516A>T (p.Arg172Ser)
10g.124400883T>CCA471762621OATc.1116A>G (p.Arg372=)
n.626A>G
c.702A>G (p.Arg234=)
c.795A>G (p.Arg265=)
c.516A>G (p.Arg172=)
10g.124400883T>GCA378633593OATc.1116A>C (p.Arg372Ser)
n.626A>C
c.702A>C (p.Arg234Ser)
c.795A>C (p.Arg265Ser)
c.516A>C (p.Arg172Ser)
10g.124400884C>ACA378633596OATc.1115G>T (p.Arg372Ile)
n.625G>T
c.701G>T (p.Arg234Ile)
c.794G>T (p.Arg265Ile)
c.515G>T (p.Arg172Ile)
10g.124400884C=CA1942337008OATc.1115G= (p.Arg372=)
n.625G=
c.701G= (p.Arg234=)
c.794G= (p.Arg265=)
c.515G= (p.Arg172=)
10g.124400884C>GCA378633594OATc.1115G>C (p.Arg372Thr)
n.625G>C
c.701G>C (p.Arg234Thr)
c.794G>C (p.Arg265Thr)
c.515G>C (p.Arg172Thr)
10g.124400884C>TCA378633595OATc.1115G>A (p.Arg372Lys)
n.625G>A
c.701G>A (p.Arg234Lys)
c.794G>A (p.Arg265Lys)
c.515G>A (p.Arg172Lys)
 dbSNP
10g.124400885T>ACA378633597OATc.1114A>T (p.Arg372Ter)
n.624A>T
c.700A>T (p.Arg234Ter)
c.793A>T (p.Arg265Ter)
c.514A>T (p.Arg172Ter)
10g.124400885T>CCA378633598OATc.1114A>G (p.Arg372Gly)
n.624A>G
c.700A>G (p.Arg234Gly)
c.793A>G (p.Arg265Gly)
c.514A>G (p.Arg172Gly)
10g.124400885T>GCA471762622OATc.1114A>C (p.Arg372=)
n.624A>C
c.700A>C (p.Arg234=)
c.793A>C (p.Arg265=)
c.514A>C (p.Arg172=)
10g.124400885_124400886insGCA2554735380OATc.1113_1114insC (p.Arg372GlnfsTer12)
n.623_624insC
c.699_700insC (p.Arg234GlnfsTer12)
c.792_793insC (p.Arg265GlnfsTer12)
c.513_514insC (p.Arg172GlnfsTer12)
10g.124400886T>ACA5733329OATc.1113A>T (p.Val371=)
n.623A>T
c.699A>T (p.Val233=)
c.792A>T (p.Val264=)
c.513A>T (p.Val171=)
 dbSNP ExAC
10g.124400886T>CCA215245032OATc.1113A>G (p.Val371=)
n.623A>G
c.699A>G (p.Val233=)
c.792A>G (p.Val264=)
c.513A>G (p.Val171=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124400886T>GCA471762623OATc.1113A>C (p.Val371=)
n.623A>C
c.699A>C (p.Val233=)
c.792A>C (p.Val264=)
c.513A>C (p.Val171=)
10g.124400886T=CA1942337009OATc.1113A= (p.Val371=)
n.623A=
c.699A= (p.Val233=)
c.792A= (p.Val264=)
c.513A= (p.Val171=)
10g.124400887A>CCA378633599OATc.1112T>G (p.Val371Gly)
n.622T>G
c.698T>G (p.Val233Gly)
c.791T>G (p.Val264Gly)
c.512T>G (p.Val171Gly)
10g.124400887A>GCA378633600OATc.1112T>C (p.Val371Ala)
n.622T>C
c.698T>C (p.Val233Ala)
c.791T>C (p.Val264Ala)
c.512T>C (p.Val171Ala)
10g.124400887A>TCA378633601OATc.1112T>A (p.Val371Glu)
n.622T>A
c.698T>A (p.Val233Glu)
c.791T>A (p.Val264Glu)
c.512T>A (p.Val171Glu)
10g.124400887dupCA5733328OATc.1112dup (p.Arg372LysfsTer12)
n.622dup
c.698dup (p.Arg234LysfsTer12)
c.791dup (p.Arg265LysfsTer12)
c.512dup (p.Arg172LysfsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124400887_124400888delCA2562671761OATc.1111_1112del (p.Val371LysfsTer12)
n.621_622del
c.697_698del (p.Val233LysfsTer12)
c.790_791del (p.Val264LysfsTer12)
c.511_512del (p.Val171LysfsTer12)
10g.124400888C>ACA378633602OATc.1111G>T (p.Val371Leu)
n.621G>T
c.697G>T (p.Val233Leu)
c.790G>T (p.Val264Leu)
c.511G>T (p.Val171Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.124400888C=CA1942337010OATc.1111G= (p.Val371=)
n.621G=
c.697G= (p.Val233=)
c.790G= (p.Val264=)
c.511G= (p.Val171=)
10g.124400888C>GCA378633603OATc.1111G>C (p.Val371Leu)
n.621G>C
c.697G>C (p.Val233Leu)
c.790G>C (p.Val264Leu)
c.511G>C (p.Val171Leu)
10g.124400888C>TCA5733330OATc.1111G>A (p.Val371Ile)
n.621G>A
c.697G>A (p.Val233Ile)
c.790G>A (p.Val264Ile)
c.511G>A (p.Val171Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124400889G>ACA5733331OATc.1110C>T (p.Ala370=)
n.620C>T
c.696C>T (p.Ala232=)
c.789C>T (p.Ala263=)
c.510C>T (p.Ala170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124400889G>CCA471762624OATc.1110C>G (p.Ala370=)
n.620C>G
c.696C>G (p.Ala232=)
c.789C>G (p.Ala263=)
c.510C>G (p.Ala170=)
10g.124400889G=CA1942337011OATc.1110C= (p.Ala370=)
n.620C=
c.696C= (p.Ala232=)
c.789C= (p.Ala263=)
c.510C= (p.Ala170=)
10g.124400889G>TCA5733332OATc.1110C>A (p.Ala370=)
n.620C>A
c.696C>A (p.Ala232=)
c.789C>A (p.Ala263=)
c.510C>A (p.Ala170=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124400890G>ACA5733333OATc.1109C>T (p.Ala370Val)
n.619C>T
c.695C>T (p.Ala232Val)
c.788C>T (p.Ala263Val)
c.509C>T (p.Ala170Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124400890G>CCA378633605OATc.1109C>G (p.Ala370Gly)
n.619C>G
c.695C>G (p.Ala232Gly)
c.788C>G (p.Ala263Gly)
c.509C>G (p.Ala170Gly)
10g.124400890G=CA1942337012OATc.1109C= (p.Ala370=)
n.619C=
c.695C= (p.Ala232=)
c.788C= (p.Ala263=)
c.509C= (p.Ala170=)
10g.124400890G>TCA378633604OATc.1109C>A (p.Ala370Asp)
n.619C>A
c.695C>A (p.Ala232Asp)
c.788C>A (p.Ala263Asp)
c.509C>A (p.Ala170Asp)
10g.124400891C>ACA378633606OATc.1108G>T (p.Ala370Ser)
n.618G>T
c.694G>T (p.Ala232Ser)
c.787G>T (p.Ala263Ser)
c.508G>T (p.Ala170Ser)
10g.124400891C>GCA378633608OATc.1108G>C (p.Ala370Pro)
n.618G>C
c.694G>C (p.Ala232Pro)
c.787G>C (p.Ala263Pro)
c.508G>C (p.Ala170Pro)
10g.124400891C>TCA378633607OATc.1108G>A (p.Ala370Thr)
n.618G>A
c.694G>A (p.Ala232Thr)
c.787G>A (p.Ala263Thr)
c.508G>A (p.Ala170Thr)
10g.124400892A>CCA471762625OATc.1107T>G (p.Thr369=)
n.617T>G
c.693T>G (p.Thr231=)
c.786T>G (p.Thr262=)
c.507T>G (p.Thr169=)
10g.124400892A>GCA471762626OATc.1107T>C (p.Thr369=)
n.617T>C
c.693T>C (p.Thr231=)
c.786T>C (p.Thr262=)
c.507T>C (p.Thr169=)
 gnomAD v4
10g.124400892A>TCA471762627OATc.1107T>A (p.Thr369=)
n.617T>A
c.693T>A (p.Thr231=)
c.786T>A (p.Thr262=)
c.507T>A (p.Thr169=)
10g.124400893G>ACA378633609OATc.1106C>T (p.Thr369Ile)
n.616C>T
c.692C>T (p.Thr231Ile)
c.785C>T (p.Thr262Ile)
c.506C>T (p.Thr169Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.124400893G>CCA378633610OATc.1106C>G (p.Thr369Ser)
n.616C>G
c.692C>G (p.Thr231Ser)
c.785C>G (p.Thr262Ser)
c.506C>G (p.Thr169Ser)
10g.124400893G=CA1942337013OATc.1106C= (p.Thr369=)
n.616C=
c.692C= (p.Thr231=)
c.785C= (p.Thr262=)
c.506C= (p.Thr169=)
10g.124400893G>TCA378633611OATc.1106C>A (p.Thr369Asn)
n.616C>A
c.692C>A (p.Thr231Asn)
c.785C>A (p.Thr262Asn)
c.506C>A (p.Thr169Asn)
10g.124400894T>ACA378633612OATc.1105A>T (p.Thr369Ser)
n.615A>T
c.691A>T (p.Thr231Ser)
c.784A>T (p.Thr262Ser)
c.505A>T (p.Thr169Ser)
 gnomAD v4
10g.124400894T>CCA378633613OATc.1105A>G (p.Thr369Ala)
n.615A>G
c.691A>G (p.Thr231Ala)
c.784A>G (p.Thr262Ala)
c.505A>G (p.Thr169Ala)
10g.124400894T>GCA378633614OATc.1105A>C (p.Thr369Pro)
n.615A>C
c.691A>C (p.Thr231Pro)
c.784A>C (p.Thr262Pro)
c.505A>C (p.Thr169Pro)
 dbSNP
10g.124400894T=CA1942337014OATc.1105A= (p.Thr369=)
n.615A=
c.691A= (p.Thr231=)
c.784A= (p.Thr262=)
c.505A= (p.Thr169=)
10g.124400895T>ACA471762628OATc.1104A>T (p.Val368=)
n.614A>T
c.690A>T (p.Val230=)
c.783A>T (p.Val261=)
c.504A>T (p.Val168=)
10g.124400895T>CCA5733334OATc.1104A>G (p.Val368=)
n.614A>G
c.690A>G (p.Val230=)
c.783A>G (p.Val261=)
c.504A>G (p.Val168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.124400895T>GCA471762629OATc.1104A>C (p.Val368=)
n.614A>C
c.690A>C (p.Val230=)
c.783A>C (p.Val261=)
c.504A>C (p.Val168=)
 gnomAD v4
10g.124400895T=CA1942337015OATc.1104A= (p.Val368=)
n.614A=
c.690A= (p.Val230=)
c.783A= (p.Val261=)
c.504A= (p.Val168=)
10g.124400895_124400898delinsTACACA1942337016OATc.1101_1104delinsTGTA (p.Val367=)
n.611_614delinsTGTA
c.687_690delinsTGTA (p.Val229=)
c.780_783delinsTGTA (p.Val260=)
c.501_504delinsTGTA (p.Val167=)
10g.124400896A>CCA378633615OATc.1103T>G (p.Val368Gly)
n.613T>G
c.689T>G (p.Val230Gly)
c.782T>G (p.Val261Gly)
c.503T>G (p.Val168Gly)
10g.124400896A>GCA378633616OATc.1103T>C (p.Val368Ala)
n.613T>C
c.689T>C (p.Val230Ala)
c.782T>C (p.Val261Ala)
c.503T>C (p.Val168Ala)
10g.124400896A>TCA378633617OATc.1103T>A (p.Val368Glu)
n.613T>A
c.689T>A (p.Val230Glu)
c.782T>A (p.Val261Glu)
c.503T>A (p.Val168Glu)
10g.124400899_124400901delCA596407250OATc.1101_1103del (p.Val368del)
n.611_613del
c.687_689del (p.Val230del)
c.780_782del (p.Val261del)
c.501_503del (p.Val168del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124400897C>ACA378633620OATc.1102G>T (p.Val368Leu)
n.612G>T
c.688G>T (p.Val230Leu)
c.781G>T (p.Val261Leu)
c.502G>T (p.Val168Leu)
10g.124400897C>GCA378633619OATc.1102G>C (p.Val368Leu)
n.612G>C
c.688G>C (p.Val230Leu)
c.781G>C (p.Val261Leu)
c.502G>C (p.Val168Leu)
10g.124400897C>TCA378633618OATc.1102G>A (p.Val368Ile)
n.612G>A
c.688G>A (p.Val230Ile)
c.781G>A (p.Val261Ile)
c.502G>A (p.Val168Ile)
10g.124400898A=CA1942337017OATc.1101T= (p.Val367=)
n.611T=
c.687T= (p.Val229=)
c.780T= (p.Val260=)
c.501T= (p.Val167=)
10g.124400898A>CCA471762630OATc.1101T>G (p.Val367=)
n.611T>G
c.687T>G (p.Val229=)
c.780T>G (p.Val260=)
c.501T>G (p.Val167=)
10g.124400898A>GCA471762631OATc.1101T>C (p.Val367=)
n.611T>C
c.687T>C (p.Val229=)
c.780T>C (p.Val260=)
c.501T>C (p.Val167=)
 dbSNP gnomAD v2
10g.124400898A>TCA471762632OATc.1101T>A (p.Val367=)
n.611T>A
c.687T>A (p.Val229=)
c.780T>A (p.Val260=)
c.501T>A (p.Val167=)
10g.124400899A>CCA378633621OATc.1100T>G (p.Val367Gly)
n.610T>G
c.686T>G (p.Val229Gly)
c.779T>G (p.Val260Gly)
c.500T>G (p.Val167Gly)
10g.124400899A>GCA378633622OATc.1100T>C (p.Val367Ala)
n.610T>C
c.686T>C (p.Val229Ala)
c.779T>C (p.Val260Ala)
c.500T>C (p.Val167Ala)
10g.124400899A>TCA378633623OATc.1100T>A (p.Val367Asp)
n.610T>A
c.686T>A (p.Val229Asp)
c.779T>A (p.Val260Asp)
c.500T>A (p.Val167Asp)
 gnomAD v4
10g.124400900C>ACA378633624OATc.1099G>T (p.Val367Phe)
n.609G>T
c.685G>T (p.Val229Phe)
c.778G>T (p.Val260Phe)
c.499G>T (p.Val167Phe)
 dbSNP
10g.124400900C=CA1942337018OATc.1099G= (p.Val367=)
n.609G=
c.685G= (p.Val229=)
c.778G= (p.Val260=)
c.499G= (p.Val167=)
10g.124400900C>GCA378633625OATc.1099G>C (p.Val367Leu)
n.609G>C
c.685G>C (p.Val229Leu)
c.778G>C (p.Val260Leu)
c.499G>C (p.Val167Leu)
10g.124400900C>TCA378633626OATc.1099G>A (p.Val367Ile)
n.609G>A
c.685G>A (p.Val229Ile)
c.778G>A (p.Val260Ile)
c.499G>A (p.Val167Ile)
 dbSNP
10g.124400901A>CCA378633627OATc.1098T>G (p.Asp366Glu)
n.608T>G
c.684T>G (p.Asp228Glu)
c.777T>G (p.Asp259Glu)
c.498T>G (p.Asp166Glu)
 gnomAD v4
10g.124400901A>GCA471762633OATc.1098T>C (p.Asp366=)
n.608T>C
c.684T>C (p.Asp228=)
c.777T>C (p.Asp259=)
c.498T>C (p.Asp166=)
 gnomAD v4
10g.124400901A>TCA378633628OATc.1098T>A (p.Asp366Glu)
n.608T>A
c.684T>A (p.Asp228Glu)
c.777T>A (p.Asp259Glu)
c.498T>A (p.Asp166Glu)
10g.124400902T>ACA378633629OATc.1097A>T (p.Asp366Val)
n.607A>T
c.683A>T (p.Asp228Val)
c.776A>T (p.Asp259Val)
c.497A>T (p.Asp166Val)
 gnomAD v4
10g.124400902T>CCA378633630OATc.1097A>G (p.Asp366Gly)
n.607A>G
c.683A>G (p.Asp228Gly)
c.776A>G (p.Asp259Gly)
c.497A>G (p.Asp166Gly)
10g.124400902T>GCA378633631OATc.1097A>C (p.Asp366Ala)
n.607A>C
c.683A>C (p.Asp228Ala)
c.776A>C (p.Asp259Ala)
c.497A>C (p.Asp166Ala)
 gnomAD v4
10g.124400903C>ACA378633633OATc.1096G>T (p.Asp366Tyr)
n.606G>T
c.682G>T (p.Asp228Tyr)
c.775G>T (p.Asp259Tyr)
c.496G>T (p.Asp166Tyr)
10g.124400903C>GCA378633634OATc.1096G>C (p.Asp366His)
n.606G>C
c.682G>C (p.Asp228His)
c.775G>C (p.Asp259His)
c.496G>C (p.Asp166His)
10g.124400903C>TCA378633632OATc.1096G>A (p.Asp366Asn)
n.606G>A
c.682G>A (p.Asp228Asn)
c.775G>A (p.Asp259Asn)
c.496G>A (p.Asp166Asn)
10g.124400904A>CCA471762634OATc.1095T>G (p.Ser365=)
n.605T>G
c.681T>G (p.Ser227=)
c.774T>G (p.Ser258=)
c.495T>G (p.Ser165=)
10g.124400904A>GCA471762635OATc.1095T>C (p.Ser365=)
n.605T>C
c.681T>C (p.Ser227=)
c.774T>C (p.Ser258=)
c.495T>C (p.Ser165=)
10g.124400904A>TCA471762636OATc.1095T>A (p.Ser365=)
n.605T>A
c.681T>A (p.Ser227=)
c.774T>A (p.Ser258=)
c.495T>A (p.Ser165=)
10g.124400905G>ACA378633635OATc.1094C>T (p.Ser365Phe)
n.604C>T
c.680C>T (p.Ser227Phe)
c.773C>T (p.Ser258Phe)
c.494C>T (p.Ser165Phe)
 dbSNP
10g.124400905G>CCA378633636OATc.1094C>G (p.Ser365Cys)
n.604C>G
c.680C>G (p.Ser227Cys)
c.773C>G (p.Ser258Cys)
c.494C>G (p.Ser165Cys)
10g.124400905G=CA1942337019OATc.1094C= (p.Ser365=)
n.604C=
c.680C= (p.Ser227=)
c.773C= (p.Ser258=)
c.494C= (p.Ser165=)
10g.124400905G>TCA378633637OATc.1094C>A (p.Ser365Tyr)
n.604C>A
c.680C>A (p.Ser227Tyr)
c.773C>A (p.Ser258Tyr)
c.494C>A (p.Ser165Tyr)
10g.124400906A=CA1942337020OATc.1093T= (p.Ser365=)
n.603T=
c.679T= (p.Ser227=)
c.772T= (p.Ser258=)
c.493T= (p.Ser165=)
10g.124400906A>CCA378633638OATc.1093T>G (p.Ser365Ala)
n.603T>G
c.679T>G (p.Ser227Ala)
c.772T>G (p.Ser258Ala)
c.493T>G (p.Ser165Ala)
10g.124400906A>GCA5733335OATc.1093T>C (p.Ser365Pro)
n.603T>C
c.679T>C (p.Ser227Pro)
c.772T>C (p.Ser258Pro)
c.493T>C (p.Ser165Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124400906A>TCA378633639OATc.1093T>A (p.Ser365Thr)
n.603T>A
c.679T>A (p.Ser227Thr)
c.772T>A (p.Ser258Thr)
c.493T>A (p.Ser165Thr)
10g.124400907A>CCA471762639OATc.1092T>G (p.Pro364=)
n.602T>G
c.678T>G (p.Pro226=)
c.771T>G (p.Pro257=)
c.492T>G (p.Pro164=)
 gnomAD v4
10g.124400907A>GCA471762638OATc.1092T>C (p.Pro364=)
n.602T>C
c.678T>C (p.Pro226=)
c.771T>C (p.Pro257=)
c.492T>C (p.Pro164=)
10g.124400907A>TCA471762637OATc.1092T>A (p.Pro364=)
n.602T>A
c.678T>A (p.Pro226=)
c.771T>A (p.Pro257=)
c.492T>A (p.Pro164=)
 gnomAD v4
10g.124400908G>ACA378633640OATc.1091C>T (p.Pro364Leu)
n.601C>T
c.677C>T (p.Pro226Leu)
c.770C>T (p.Pro257Leu)
c.491C>T (p.Pro164Leu)
10g.124400908G>CCA378633641OATc.1091C>G (p.Pro364Arg)
n.601C>G
c.677C>G (p.Pro226Arg)
c.770C>G (p.Pro257Arg)
c.491C>G (p.Pro164Arg)
10g.124400908G>TCA378633642OATc.1091C>A (p.Pro364His)
n.601C>A
c.677C>A (p.Pro226His)
c.770C>A (p.Pro257His)
c.491C>A (p.Pro164His)
10g.124400909G>ACA378633643OATc.1090C>T (p.Pro364Ser)
n.600C>T
c.676C>T (p.Pro226Ser)
c.769C>T (p.Pro257Ser)
c.490C>T (p.Pro164Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124400909G>CCA378633644OATc.1090C>G (p.Pro364Ala)
n.600C>G
c.676C>G (p.Pro226Ala)
c.769C>G (p.Pro257Ala)
c.490C>G (p.Pro164Ala)
10g.124400909G=CA1942337021OATc.1090C= (p.Pro364=)
n.600C=
c.676C= (p.Pro226=)
c.769C= (p.Pro257=)
c.490C= (p.Pro164=)
10g.124400909G>TCA378633645OATc.1090C>A (p.Pro364Thr)
n.600C>A
c.676C>A (p.Pro226Thr)
c.769C>A (p.Pro257Thr)
c.490C>A (p.Pro164Thr)
10g.124400910T>ACA471762643OATc.1089A>T (p.Leu363=)
n.599A>T
c.675A>T (p.Leu225=)
c.768A>T (p.Leu256=)
c.489A>T (p.Leu163=)
 ClinVar dbSNP
10g.124400910T>CCA471762642OATc.1089A>G (p.Leu363=)
n.599A>G
c.675A>G (p.Leu225=)
c.768A>G (p.Leu256=)
c.489A>G (p.Leu163=)
10g.124400910T>GCA471762641OATc.1089A>C (p.Leu363=)
n.599A>C
c.675A>C (p.Leu225=)
c.768A>C (p.Leu256=)
c.489A>C (p.Leu163=)
 dbSNP
10g.124400910T=CA1942337022OATc.1089A= (p.Leu363=)
n.599A=
c.675A= (p.Leu225=)
c.768A= (p.Leu256=)
c.489A= (p.Leu163=)
10g.124400911A=CA1942337023OATc.1088T= (p.Leu363=)
n.598T=
c.674T= (p.Leu225=)
c.767T= (p.Leu256=)
c.488T= (p.Leu163=)
10g.124400911A>CCA378633647OATc.1088T>G (p.Leu363Arg)
n.598T>G
c.674T>G (p.Leu225Arg)
c.767T>G (p.Leu256Arg)
c.488T>G (p.Leu163Arg)
10g.124400911A>GCA378633648OATc.1088T>C (p.Leu363Pro)
n.598T>C
c.674T>C (p.Leu225Pro)
c.767T>C (p.Leu256Pro)
c.488T>C (p.Leu163Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.124400911A>TCA378633646OATc.1088T>A (p.Leu363Gln)
n.598T>A
c.674T>A (p.Leu225Gln)
c.767T>A (p.Leu256Gln)
c.488T>A (p.Leu163Gln)
10g.124400912G>ACA471762644OATc.1087C>T (p.Leu363=)
n.597C>T
c.673C>T (p.Leu225=)
c.766C>T (p.Leu256=)
c.487C>T (p.Leu163=)
10g.124400912G>CCA378633649OATc.1087C>G (p.Leu363Val)
n.597C>G
c.673C>G (p.Leu225Val)
c.766C>G (p.Leu256Val)
c.487C>G (p.Leu163Val)
10g.124400912G>TCA378633650OATc.1087C>A (p.Leu363Ile)
n.597C>A
c.673C>A (p.Leu225Ile)
c.766C>A (p.Leu256Ile)
c.487C>A (p.Leu163Ile)
 gnomAD v4
10g.124400913C>ACA378633651OATc.1086G>T (p.Lys362Asn)
n.596G>T
c.672G>T (p.Lys224Asn)
c.765G>T (p.Lys255Asn)
c.486G>T (p.Lys162Asn)
10g.124400913C>GCA378633652OATc.1086G>C (p.Lys362Asn)
n.596G>C
c.672G>C (p.Lys224Asn)
c.765G>C (p.Lys255Asn)
c.486G>C (p.Lys162Asn)
10g.124400913C>TCA471762645OATc.1086G>A (p.Lys362=)
n.596G>A
c.672G>A (p.Lys224=)
c.765G>A (p.Lys255=)
c.486G>A (p.Lys162=)
 gnomAD v4
10g.124400914T>ACA378633654OATc.1085A>T (p.Lys362Met)
n.595A>T
c.671A>T (p.Lys224Met)
c.764A>T (p.Lys255Met)
c.485A>T (p.Lys162Met)
10g.124400914T>CCA215245078OATc.1085A>G (p.Lys362Arg)
n.595A>G
c.671A>G (p.Lys224Arg)
c.764A>G (p.Lys255Arg)
c.485A>G (p.Lys162Arg)
 dbSNP
10g.124400914T>GCA378633653OATc.1085A>C (p.Lys362Thr)
n.595A>C
c.671A>C (p.Lys224Thr)
c.764A>C (p.Lys255Thr)
c.485A>C (p.Lys162Thr)
10g.124400914T=CA1942337024OATc.1085A= (p.Lys362=)
n.595A=
c.671A= (p.Lys224=)
c.764A= (p.Lys255=)
c.485A= (p.Lys162=)
10g.124400915T>ACA378633655OATc.1084A>T (p.Lys362Ter)
n.594A>T
c.670A>T (p.Lys224Ter)
c.763A>T (p.Lys255Ter)
c.484A>T (p.Lys162Ter)
10g.124400915T>CCA378633656OATc.1084A>G (p.Lys362Glu)
n.594A>G
c.670A>G (p.Lys224Glu)
c.763A>G (p.Lys255Glu)
c.484A>G (p.Lys162Glu)
 ClinVar dbSNP
10g.124400915T>GCA378633657OATc.1084A>C (p.Lys362Gln)
n.594A>C
c.670A>C (p.Lys224Gln)
c.763A>C (p.Lys255Gln)
c.484A>C (p.Lys162Gln)
10g.124400916C>ACA378633658OATc.1083G>T (p.Met361Ile)
n.593G>T
c.669G>T (p.Met223Ile)
c.762G>T (p.Met254Ile)
c.483G>T (p.Met161Ile)
10g.124400916C>GCA378633659OATc.1083G>C (p.Met361Ile)
n.593G>C
c.669G>C (p.Met223Ile)
c.762G>C (p.Met254Ile)
c.483G>C (p.Met161Ile)
10g.124400916C>TCA378633660OATc.1083G>A (p.Met361Ile)
n.593G>A
c.669G>A (p.Met223Ile)
c.762G>A (p.Met254Ile)
c.483G>A (p.Met161Ile)
 COSMIC
10g.124400917A>CCA378633661OATc.1082T>G (p.Met361Arg)
n.592T>G
c.668T>G (p.Met223Arg)
c.761T>G (p.Met254Arg)
c.482T>G (p.Met161Arg)
10g.124400917A>GCA378633663OATc.1082T>C (p.Met361Thr)
n.592T>C
c.668T>C (p.Met223Thr)
c.761T>C (p.Met254Thr)
c.482T>C (p.Met161Thr)
10g.124400917A>TCA378633662OATc.1082T>A (p.Met361Lys)
n.592T>A
c.668T>A (p.Met223Lys)
c.761T>A (p.Met254Lys)
c.482T>A (p.Met161Lys)
10g.124400918T>ACA378633664OATc.1081A>T (p.Met361Leu)
n.591A>T
c.667A>T (p.Met223Leu)
c.760A>T (p.Met254Leu)
c.481A>T (p.Met161Leu)
10g.124400918T>CCA378633666OATc.1081A>G (p.Met361Val)
n.591A>G
c.667A>G (p.Met223Val)
c.760A>G (p.Met254Val)
c.481A>G (p.Met161Val)
10g.124400918T>GCA378633665OATc.1081A>C (p.Met361Leu)
n.591A>C
c.667A>C (p.Met223Leu)
c.760A>C (p.Met254Leu)
c.481A>C (p.Met161Leu)
10g.124400919G>ACA471762646OATc.1080C>T (p.Leu360=)
n.590C>T
c.666C>T (p.Leu222=)
c.759C>T (p.Leu253=)
c.480C>T (p.Leu160=)
10g.124400919G>CCA215245085OATc.1080C>G (p.Leu360=)
n.590C>G
c.666C>G (p.Leu222=)
c.759C>G (p.Leu253=)
c.480C>G (p.Leu160=)
 ClinVar dbSNP
10g.124400919G=CA1942337025OATc.1080C= (p.Leu360=)
n.590C=
c.666C= (p.Leu222=)
c.759C= (p.Leu253=)
c.480C= (p.Leu160=)
10g.124400919G>TCA471762647OATc.1080C>A (p.Leu360=)
n.590C>A
c.666C>A (p.Leu222=)
c.759C>A (p.Leu253=)
c.480C>A (p.Leu160=)
 dbSNP gnomAD v3 gnomAD v4
10g.124400920A>CCA378633668OATc.1079T>G (p.Leu360Arg)
n.589T>G
c.665T>G (p.Leu222Arg)
c.758T>G (p.Leu253Arg)
c.479T>G (p.Leu160Arg)
10g.124400920A>GCA378633667OATc.1079T>C (p.Leu360Pro)
n.589T>C
c.665T>C (p.Leu222Pro)
c.758T>C (p.Leu253Pro)
c.479T>C (p.Leu160Pro)
10g.124400920A>TCA378633669OATc.1079T>A (p.Leu360His)
n.589T>A
c.665T>A (p.Leu222His)
c.758T>A (p.Leu253His)
c.479T>A (p.Leu160His)
10g.124400920_124400921delinsAGCA1942337026OATc.1078_1079delinsCT (p.Leu360=)
n.588_589delinsCT
c.664_665delinsCT (p.Leu222=)
c.757_758delinsCT (p.Leu253=)
c.478_479delinsCT (p.Leu160=)
10g.124400921delCA1139661718OATc.1078del (p.Leu360SerfsTer2)
n.588del
c.664del (p.Leu222SerfsTer2)
c.757del (p.Leu253SerfsTer2)
c.478del (p.Leu160SerfsTer2)
 ClinVar dbSNP
10g.124400921G>ACA378633670OATc.1078C>T (p.Leu360Phe)
n.588C>T
c.664C>T (p.Leu222Phe)
c.757C>T (p.Leu253Phe)
c.478C>T (p.Leu160Phe)
10g.124400921G>CCA378633671OATc.1078C>G (p.Leu360Val)
n.588C>G
c.664C>G (p.Leu222Val)
c.757C>G (p.Leu253Val)
c.478C>G (p.Leu160Val)
10g.124400921G>TCA378633672OATc.1078C>A (p.Leu360Ile)
n.588C>A
c.664C>A (p.Leu222Ile)
c.757C>A (p.Leu253Ile)
c.478C>A (p.Leu160Ile)
10g.124400922T>ACA378633673OATc.1077A>T (p.Glu359Asp)
n.587A>T
c.663A>T (p.Glu221Asp)
c.756A>T (p.Glu252Asp)
c.477A>T (p.Glu159Asp)
10g.124400922T>CCA471762649OATc.1077A>G (p.Glu359=)
n.587A>G
c.663A>G (p.Glu221=)
c.756A>G (p.Glu252=)
c.477A>G (p.Glu159=)
 ClinVar dbSNP gnomAD v4
10g.124400922T>GCA378633674OATc.1077A>C (p.Glu359Asp)
n.587A>C
c.663A>C (p.Glu221Asp)
c.756A>C (p.Glu252Asp)
c.477A>C (p.Glu159Asp)
10g.124400923T>ACA378633675OATc.1076A>T (p.Glu359Val)
n.586A>T
c.662A>T (p.Glu221Val)
c.755A>T (p.Glu252Val)
c.476A>T (p.Glu159Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124400923T>CCA378633676OATc.1076A>G (p.Glu359Gly)
n.586A>G
c.662A>G (p.Glu221Gly)
c.755A>G (p.Glu252Gly)
c.476A>G (p.Glu159Gly)
 ClinVar dbSNP gnomAD v4
10g.124400923T>GCA378633677OATc.1076A>C (p.Glu359Ala)
n.586A>C
c.662A>C (p.Glu221Ala)
c.755A>C (p.Glu252Ala)
c.476A>C (p.Glu159Ala)
10g.124400923T=CA1942337027OATc.1076A= (p.Glu359=)
n.586A=
c.662A= (p.Glu221=)
c.755A= (p.Glu252=)
c.476A= (p.Glu159=)
10g.124400924C>ACA378633678OATc.1075G>T (p.Glu359Ter)
n.585G>T
c.661G>T (p.Glu221Ter)
c.754G>T (p.Glu252Ter)
c.475G>T (p.Glu159Ter)
10g.124400924C>GCA378633679OATc.1075G>C (p.Glu359Gln)
n.585G>C
c.661G>C (p.Glu221Gln)
c.754G>C (p.Glu252Gln)
c.475G>C (p.Glu159Gln)
10g.124400924C>TCA378633680OATc.1075G>A (p.Glu359Lys)
n.585G>A
c.661G>A (p.Glu221Lys)
c.754G>A (p.Glu252Lys)
c.475G>A (p.Glu159Lys)
10g.124400925A>CCA378633681OATc.1074T>G (p.Asn358Lys)
n.584T>G
c.660T>G (p.Asn220Lys)
c.753T>G (p.Asn251Lys)
c.474T>G (p.Asn158Lys)
10g.124400925A>GCA471762650OATc.1074T>C (p.Asn358=)
n.584T>C
c.660T>C (p.Asn220=)
c.753T>C (p.Asn251=)
c.474T>C (p.Asn158=)
 dbSNP gnomAD v3 gnomAD v4
10g.124400925A>TCA378633682OATc.1074T>A (p.Asn358Lys)
n.584T>A
c.660T>A (p.Asn220Lys)
c.753T>A (p.Asn251Lys)
c.474T>A (p.Asn158Lys)
10g.124400926T>ACA378633685OATc.1073A>T (p.Asn358Ile)
n.583A>T
c.659A>T (p.Asn220Ile)
c.752A>T (p.Asn251Ile)
c.473A>T (p.Asn158Ile)
10g.124400926T>CCA378633683OATc.1073A>G (p.Asn358Ser)
n.583A>G
c.659A>G (p.Asn220Ser)
c.752A>G (p.Asn251Ser)
c.473A>G (p.Asn158Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.124400926T>GCA378633684OATc.1073A>C (p.Asn358Thr)
n.583A>C
c.659A>C (p.Asn220Thr)
c.752A>C (p.Asn251Thr)
c.473A>C (p.Asn158Thr)
10g.124400926T=CA1942337028OATc.1073A= (p.Asn358=)
n.583A=
c.659A= (p.Asn220=)
c.752A= (p.Asn251=)
c.473A= (p.Asn158=)
10g.124400927T>ACA378633686OATc.1072A>T (p.Asn358Tyr)
n.582A>T
c.658A>T (p.Asn220Tyr)
c.751A>T (p.Asn251Tyr)
c.472A>T (p.Asn158Tyr)
10g.124400927T>CCA5733336OATc.1072A>G (p.Asn358Asp)
n.582A>G
c.658A>G (p.Asn220Asp)
c.751A>G (p.Asn251Asp)
c.472A>G (p.Asn158Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124400927T>GCA378633687OATc.1072A>C (p.Asn358His)
n.582A>C
c.658A>C (p.Asn220His)
c.751A>C (p.Asn251His)
c.472A>C (p.Asn158His)
10g.124400927T=CA1942337029OATc.1072A= (p.Asn358=)
n.582A=
c.658A= (p.Asn220=)
c.751A= (p.Asn251=)
c.472A= (p.Asn158=)
10g.124400928T>ACA378633688OATc.1071A>T (p.Arg357Ser)
n.581A>T
c.657A>T (p.Arg219Ser)
c.750A>T (p.Arg250Ser)
c.471A>T (p.Arg157Ser)
10g.124400928T>CCA471762651OATc.1071A>G (p.Arg357=)
n.581A>G
c.657A>G (p.Arg219=)
c.750A>G (p.Arg250=)
c.471A>G (p.Arg157=)
 gnomAD v4
10g.124400928T>GCA378633689OATc.1071A>C (p.Arg357Ser)
n.581A>C
c.657A>C (p.Arg219Ser)
c.750A>C (p.Arg250Ser)
c.471A>C (p.Arg157Ser)
10g.124400929C>ACA378633690OATc.1070G>T (p.Arg357Ile)
n.580G>T
c.656G>T (p.Arg219Ile)
c.749G>T (p.Arg250Ile)
c.470G>T (p.Arg157Ile)
10g.124400929C>GCA378633691OATc.1070G>C (p.Arg357Thr)
n.580G>C
c.656G>C (p.Arg219Thr)
c.749G>C (p.Arg250Thr)
c.470G>C (p.Arg157Thr)
10g.124400929C>TCA378633692OATc.1070G>A (p.Arg357Lys)
n.580G>A
c.656G>A (p.Arg219Lys)
c.749G>A (p.Arg250Lys)
c.470G>A (p.Arg157Lys)
10g.124400930T>ACA378633693OATc.1069A>T (p.Arg357Ter)
n.579A>T
c.655A>T (p.Arg219Ter)
c.748A>T (p.Arg250Ter)
c.469A>T (p.Arg157Ter)
10g.124400930T>CCA378633694OATc.1069A>G (p.Arg357Gly)
n.579A>G
c.655A>G (p.Arg219Gly)
c.748A>G (p.Arg250Gly)
c.469A>G (p.Arg157Gly)
10g.124400930T>GCA471762652OATc.1069A>C (p.Arg357=)
n.579A>C
c.655A>C (p.Arg219=)
c.748A>C (p.Arg250=)
c.469A>C (p.Arg157=)
10g.124400931C>ACA5733337OATc.1068G>T (p.Leu356Phe)
n.578G>T
c.654G>T (p.Leu218Phe)
c.747G>T (p.Leu249Phe)
c.468G>T (p.Leu156Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.124400931C=CA1942337030OATc.1068G= (p.Leu356=)
n.578G=
c.654G= (p.Leu218=)
c.747G= (p.Leu249=)
c.468G= (p.Leu156=)
10g.124400931C>GCA378633695OATc.1068G>C (p.Leu356Phe)
n.578G>C
c.654G>C (p.Leu218Phe)
c.747G>C (p.Leu249Phe)
c.468G>C (p.Leu156Phe)
10g.124400931C>TCA471762653OATc.1068G>A (p.Leu356=)
n.578G>A
c.654G>A (p.Leu218=)
c.747G>A (p.Leu249=)
c.468G>A (p.Leu156=)
10g.124400932A>CCA378633696OATc.1067T>G (p.Leu356Trp)
n.577T>G
c.653T>G (p.Leu218Trp)
c.746T>G (p.Leu249Trp)
c.467T>G (p.Leu156Trp)
10g.124400932A>GCA378633698OATc.1067T>C (p.Leu356Ser)
n.577T>C
c.653T>C (p.Leu218Ser)
c.746T>C (p.Leu249Ser)
c.467T>C (p.Leu156Ser)
10g.124400932A>TCA378633697OATc.1067T>A (p.Leu356Ter)
n.577T>A
c.653T>A (p.Leu218Ter)
c.746T>A (p.Leu249Ter)
c.467T>A (p.Leu156Ter)
10g.124400933A>CCA378633699OATc.1066T>G (p.Leu356Val)
n.576T>G
c.652T>G (p.Leu218Val)
c.745T>G (p.Leu249Val)
c.466T>G (p.Leu156Val)
10g.124400933A>GCA471762654OATc.1066T>C (p.Leu356=)
n.576T>C
c.652T>C (p.Leu218=)
c.745T>C (p.Leu249=)
c.466T>C (p.Leu156=)
10g.124400933A>TCA378633700OATc.1066T>A (p.Leu356Met)
n.576T>A
c.652T>A (p.Leu218Met)
c.745T>A (p.Leu249Met)
c.466T>A (p.Leu156Met)
10g.124400934G>ACA471762656OATc.1065C>T (p.Ile355=)
n.575C>T
c.651C>T (p.Ile217=)
c.744C>T (p.Ile248=)
c.465C>T (p.Ile155=)
10g.124400934G>CCA378633701OATc.1065C>G (p.Ile355Met)
n.575C>G
c.651C>G (p.Ile217Met)
c.744C>G (p.Ile248Met)
c.465C>G (p.Ile155Met)
10g.124400934G>TCA471762655OATc.1065C>A (p.Ile355=)
n.575C>A
c.651C>A (p.Ile217=)
c.744C>A (p.Ile248=)
c.465C>A (p.Ile155=)
10g.124400935A>CCA378633702OATc.1064T>G (p.Ile355Ser)
n.574T>G
c.650T>G (p.Ile217Ser)
c.743T>G (p.Ile248Ser)
c.464T>G (p.Ile155Ser)
 gnomAD v4
10g.124400935A>GCA378633703OATc.1064T>C (p.Ile355Thr)
n.574T>C
c.650T>C (p.Ile217Thr)
c.743T>C (p.Ile248Thr)
c.464T>C (p.Ile155Thr)
10g.124400935A>TCA378633704OATc.1064T>A (p.Ile355Asn)
n.574T>A
c.650T>A (p.Ile217Asn)
c.743T>A (p.Ile248Asn)
c.464T>A (p.Ile155Asn)
10g.124400936T>ACA378633705OATc.1063A>T (p.Ile355Phe)
n.573A>T
c.649A>T (p.Ile217Phe)
c.742A>T (p.Ile248Phe)
c.463A>T (p.Ile155Phe)
10g.124400936T>CCA378633706OATc.1063A>G (p.Ile355Val)
n.573A>G
c.649A>G (p.Ile217Val)
c.742A>G (p.Ile248Val)
c.463A>G (p.Ile155Val)
 dbSNP gnomAD v3 gnomAD v4
10g.124400936T>GCA378633707OATc.1063A>C (p.Ile355Leu)
n.573A>C
c.649A>C (p.Ile217Leu)
c.742A>C (p.Ile248Leu)
c.463A>C (p.Ile155Leu)
10g.124400936T=CA1942337031OATc.1063A= (p.Ile355=)
n.573A=
c.649A= (p.Ile217=)
c.742A= (p.Ile248=)
c.463A= (p.Ile155=)
10g.124400937A>CCA378633708OATc.1062T>G (p.Ile354Met)
n.572T>G
c.648T>G (p.Ile216Met)
c.741T>G (p.Ile247Met)
c.462T>G (p.Ile154Met)
10g.124400937A>GCA471762657OATc.1062T>C (p.Ile354=)
n.572T>C
c.648T>C (p.Ile216=)
c.741T>C (p.Ile247=)
c.462T>C (p.Ile154=)
10g.124400937A>TCA471762658OATc.1062T>A (p.Ile354=)
n.572T>A
c.648T>A (p.Ile216=)
c.741T>A (p.Ile247=)
c.462T>A (p.Ile154=)
10g.124400938A>CCA378633709OATc.1061T>G (p.Ile354Ser)
n.571T>G
c.647T>G (p.Ile216Ser)
c.740T>G (p.Ile247Ser)
c.461T>G (p.Ile154Ser)
10g.124400938A>GCA378633710OATc.1061T>C (p.Ile354Thr)
n.571T>C
c.647T>C (p.Ile216Thr)
c.740T>C (p.Ile247Thr)
c.461T>C (p.Ile154Thr)
10g.124400938A>TCA378633711OATc.1061T>A (p.Ile354Asn)
n.571T>A
c.647T>A (p.Ile216Asn)
c.740T>A (p.Ile247Asn)
c.461T>A (p.Ile154Asn)
10g.124400939T>ACA378633712OATc.1060A>T (p.Ile354Phe)
n.570A>T
c.646A>T (p.Ile216Phe)
c.739A>T (p.Ile247Phe)
c.460A>T (p.Ile154Phe)
10g.124400939T>CCA378633714OATc.1060A>G (p.Ile354Val)
n.570A>G
c.646A>G (p.Ile216Val)
c.739A>G (p.Ile247Val)
c.460A>G (p.Ile154Val)
 dbSNP gnomAD v3 gnomAD v4
10g.124400939T>GCA378633713OATc.1060A>C (p.Ile354Leu)
n.570A>C
c.646A>C (p.Ile216Leu)
c.739A>C (p.Ile247Leu)
c.460A>C (p.Ile154Leu)
10g.124400939T=CA1942337032OATc.1060A= (p.Ile354=)
n.570A=
c.646A= (p.Ile216=)
c.739A= (p.Ile247=)
c.460A= (p.Ile154=)
10g.124400940G>ACA5733338OATc.1059C>T (p.Gly353=)
n.569C>T
c.645C>T (p.Gly215=)
c.738C>T (p.Gly246=)
c.459C>T (p.Gly153=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124400940G>CCA471762660OATc.1059C>G (p.Gly353=)
n.569C>G
c.645C>G (p.Gly215=)
c.738C>G (p.Gly246=)
c.459C>G (p.Gly153=)
 gnomAD v4
10g.124400940G=CA1942337033OATc.1059C= (p.Gly353=)
n.569C=
c.645C= (p.Gly215=)
c.738C= (p.Gly246=)
c.459C= (p.Gly153=)
10g.124400940G>TCA471762659OATc.1059C>A (p.Gly353=)
n.569C>A
c.645C>A (p.Gly215=)
c.738C>A (p.Gly246=)
c.459C>A (p.Gly153=)
 gnomAD v4
10g.124400941C>ACA378633715OATc.1058G>T (p.Gly353Val)
n.568G>T
c.644G>T (p.Gly215Val)
c.737G>T (p.Gly246Val)
c.458G>T (p.Gly153Val)
 gnomAD v4
10g.124400941C=CA1942337034OATc.1058G= (p.Gly353=)
n.568G=
c.644G= (p.Gly215=)
c.737G= (p.Gly246=)
c.458G= (p.Gly153=)
10g.124400941C>GCA378633716OATc.1058G>C (p.Gly353Ala)
n.568G>C
c.644G>C (p.Gly215Ala)
c.737G>C (p.Gly246Ala)
c.458G>C (p.Gly153Ala)
10g.124400941C>TCA113981OATc.1058G>A (p.Gly353Asp)
n.568G>A
c.644G>A (p.Gly215Asp)
c.737G>A (p.Gly246Asp)
c.458G>A (p.Gly153Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124400942C>ACA378633717OATc.1057G>T (p.Gly353Cys)
n.567G>T
c.643G>T (p.Gly215Cys)
c.736G>T (p.Gly246Cys)
c.457G>T (p.Gly153Cys)
10g.124400942C>GCA378633718OATc.1057G>C (p.Gly353Arg)
n.567G>C
c.643G>C (p.Gly215Arg)
c.736G>C (p.Gly246Arg)
c.457G>C (p.Gly153Arg)
10g.124400942C>TCA378633719OATc.1057G>A (p.Gly353Ser)
n.567G>A
c.643G>A (p.Gly215Ser)
c.736G>A (p.Gly246Ser)
c.457G>A (p.Gly153Ser)
10g.124400943C>ACA378633720OATc.1056G>T (p.Leu352Phe)
n.566G>T
c.642G>T (p.Leu214Phe)
c.735G>T (p.Leu245Phe)
c.456G>T (p.Leu152Phe)
 gnomAD v4
10g.124400943C=CA1942337035OATc.1056G= (p.Leu352=)
n.566G=
c.642G= (p.Leu214=)
c.735G= (p.Leu245=)
c.456G= (p.Leu152=)
10g.124400943C>GCA378633721OATc.1056G>C (p.Leu352Phe)
n.566G>C
c.642G>C (p.Leu214Phe)
c.735G>C (p.Leu245Phe)
c.456G>C (p.Leu152Phe)
 ClinVar dbSNP
10g.124400943C>TCA5733339OATc.1056G>A (p.Leu352=)
n.566G>A
c.642G>A (p.Leu214=)
c.735G>A (p.Leu245=)
c.456G>A (p.Leu152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.124400944A=CA1942337036OATc.1055T= (p.Leu352=)
n.565T=
c.641T= (p.Leu214=)
c.734T= (p.Leu245=)
c.455T= (p.Leu152=)
10g.124400944A>CCA378633723OATc.1055T>G (p.Leu352Trp)
n.565T>G
c.641T>G (p.Leu214Trp)
c.734T>G (p.Leu245Trp)
c.455T>G (p.Leu152Trp)
 dbSNP gnomAD v2 gnomAD v4
10g.124400944A>GCA215245104OATc.1055T>C (p.Leu352Ser)
n.565T>C
c.641T>C (p.Leu214Ser)
c.734T>C (p.Leu245Ser)
c.455T>C (p.Leu152Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.124400944A>TCA378633722OATc.1055T>A (p.Leu352Ter)
n.565T>A
c.641T>A (p.Leu214Ter)
c.734T>A (p.Leu245Ter)
c.455T>A (p.Leu152Ter)
 gnomAD v4
10g.124400945A>CCA378633725OATc.1054T>G (p.Leu352Val)
n.564T>G
c.640T>G (p.Leu214Val)
c.733T>G (p.Leu245Val)
c.454T>G (p.Leu152Val)
10g.124400945A>GCA471762661OATc.1054T>C (p.Leu352=)
n.564T>C
c.640T>C (p.Leu214=)
c.733T>C (p.Leu245=)
c.454T>C (p.Leu152=)
10g.124400945A>TCA378633724OATc.1054T>A (p.Leu352Met)
n.564T>A
c.640T>A (p.Leu214Met)
c.733T>A (p.Leu245Met)
c.454T>A (p.Leu152Met)
10g.124400946T>ACA215245116OATc.1053A>T (p.Lys351Asn)
n.563A>T
c.639A>T (p.Lys213Asn)
c.732A>T (p.Lys244Asn)
c.453A>T (p.Lys151Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124400946T>CCA5733340OATc.1053A>G (p.Lys351=)
n.563A>G
c.639A>G (p.Lys213=)
c.732A>G (p.Lys244=)
c.453A>G (p.Lys151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.124400946T>GCA378633726OATc.1053A>C (p.Lys351Asn)
n.563A>C
c.639A>C (p.Lys213Asn)
c.732A>C (p.Lys244Asn)
c.453A>C (p.Lys151Asn)
10g.124400946T=CA1942337037OATc.1053A= (p.Lys351=)
n.563A=
c.639A= (p.Lys213=)
c.732A= (p.Lys244=)
c.453A= (p.Lys151=)
10g.124400947T>ACA378633727OATc.1052A>T (p.Lys351Ile)
n.562A>T
c.638A>T (p.Lys213Ile)
c.731A>T (p.Lys244Ile)
c.452A>T (p.Lys151Ile)
10g.124400947T>CCA378633728OATc.1052A>G (p.Lys351Arg)
n.562A>G
c.638A>G (p.Lys213Arg)
c.731A>G (p.Lys244Arg)
c.452A>G (p.Lys151Arg)
10g.124400947T>GCA378633729OATc.1052A>C (p.Lys351Thr)
n.562A>C
c.638A>C (p.Lys213Thr)
c.731A>C (p.Lys244Thr)
c.452A>C (p.Lys151Thr)
10g.124400948T>ACA378633730OATc.1051A>T (p.Lys351Ter)
n.561A>T
c.637A>T (p.Lys213Ter)
c.730A>T (p.Lys244Ter)
c.451A>T (p.Lys151Ter)
10g.124400948T>CCA378633731OATc.1051A>G (p.Lys351Glu)
n.561A>G
c.637A>G (p.Lys213Glu)
c.730A>G (p.Lys244Glu)
c.451A>G (p.Lys151Glu)
10g.124400948T>GCA378633732OATc.1051A>C (p.Lys351Gln)
n.561A>C
c.637A>C (p.Lys213Gln)
c.730A>C (p.Lys244Gln)
c.451A>C (p.Lys151Gln)
10g.124400950_124400953delCA2574699277OATc.1048_1051del (p.Asp350AsnfsTer6)
n.558_561del
c.634_637del (p.Asp212AsnfsTer6)
c.727_730del (p.Asp243AsnfsTer6)
c.448_451del (p.Asp150AsnfsTer6)
10g.124400949G>ACA471762662OATc.1050C>T (p.Asp350=)
n.560C>T
c.636C>T (p.Asp212=)
c.729C>T (p.Asp243=)
c.450C>T (p.Asp150=)
 ClinVar dbSNP gnomAD v4
10g.124400949G>CCA378633733OATc.1050C>G (p.Asp350Glu)
n.560C>G
c.636C>G (p.Asp212Glu)
c.729C>G (p.Asp243Glu)
c.450C>G (p.Asp150Glu)
10g.124400949G>TCA378633734OATc.1050C>A (p.Asp350Glu)
n.560C>A
c.636C>A (p.Asp212Glu)
c.729C>A (p.Asp243Glu)
c.450C>A (p.Asp150Glu)
10g.124400950T>ACA378633737OATc.1049A>T (p.Asp350Val)
n.559A>T
c.635A>T (p.Asp212Val)
c.728A>T (p.Asp243Val)
c.449A>T (p.Asp150Val)
10g.124400950T>CCA378633735OATc.1049A>G (p.Asp350Gly)
n.559A>G
c.635A>G (p.Asp212Gly)
c.728A>G (p.Asp243Gly)
c.449A>G (p.Asp150Gly)
10g.124400950T>GCA378633736OATc.1049A>C (p.Asp350Ala)
n.559A>C
c.635A>C (p.Asp212Ala)
c.728A>C (p.Asp243Ala)
c.449A>C (p.Asp150Ala)
10g.124400951C>ACA378633738OATc.1048G>T (p.Asp350Tyr)
n.558G>T
c.634G>T (p.Asp212Tyr)
c.727G>T (p.Asp243Tyr)
c.448G>T (p.Asp150Tyr)
10g.124400951C=CA1942337038OATc.1048G= (p.Asp350=)
n.558G=
c.634G= (p.Asp212=)
c.727G= (p.Asp243=)
c.448G= (p.Asp150=)
10g.124400951C>GCA378633739OATc.1048G>C (p.Asp350His)
n.558G>C
c.634G>C (p.Asp212His)
c.727G>C (p.Asp243His)
c.448G>C (p.Asp150His)
10g.124400951C>TCA215245130OATc.1048G>A (p.Asp350Asn)
n.558G>A
c.634G>A (p.Asp212Asn)
c.727G>A (p.Asp243Asn)
c.448G>A (p.Asp150Asn)
 dbSNP gnomAD v4
10g.124400952delCA2611307416OATc.1047del (p.Asp350ThrfsTer7)
n.557del
c.633del (p.Asp212ThrfsTer7)
c.726del (p.Asp243ThrfsTer7)
c.447del (p.Asp150ThrfsTer7)
 gnomAD v4
10g.124400952T>ACA471762663OATc.1047A>T (p.Ala349=)
n.557A>T
c.633A>T (p.Ala211=)
c.726A>T (p.Ala242=)
c.447A>T (p.Ala149=)
10g.124400952T>CCA471762664OATc.1047A>G (p.Ala349=)
n.557A>G
c.633A>G (p.Ala211=)
c.726A>G (p.Ala242=)
c.447A>G (p.Ala149=)
 gnomAD v4
10g.124400952T>GCA471762665OATc.1047A>C (p.Ala349=)
n.557A>C
c.633A>C (p.Ala211=)
c.726A>C (p.Ala242=)
c.447A>C (p.Ala149=)
10g.124400953G>ACA378633740OATc.1046C>T (p.Ala349Val)
n.556C>T
c.632C>T (p.Ala211Val)
c.725C>T (p.Ala242Val)
c.446C>T (p.Ala149Val)
 gnomAD v4
10g.124400953G>CCA215245141OATc.1046C>G (p.Ala349Gly)
n.556C>G
c.632C>G (p.Ala211Gly)
c.725C>G (p.Ala242Gly)
c.446C>G (p.Ala149Gly)
 dbSNP
10g.124400953G=CA1942337039OATc.1046C= (p.Ala349=)
n.556C=
c.632C= (p.Ala211=)
c.725C= (p.Ala242=)
c.446C= (p.Ala149=)
10g.124400953G>TCA378633741OATc.1046C>A (p.Ala349Glu)
n.556C>A
c.632C>A (p.Ala211Glu)
c.725C>A (p.Ala242Glu)
c.446C>A (p.Ala149Glu)
10g.124400954C>ACA378633742OATc.1045G>T (p.Ala349Ser)
n.555G>T
c.631G>T (p.Ala211Ser)
c.724G>T (p.Ala242Ser)
c.445G>T (p.Ala149Ser)
10g.124400954C>GCA378633743OATc.1045G>C (p.Ala349Pro)
n.555G>C
c.631G>C (p.Ala211Pro)
c.724G>C (p.Ala242Pro)
c.445G>C (p.Ala149Pro)
 gnomAD v4
10g.124400954C>TCA378633744OATc.1045G>A (p.Ala349Thr)
n.555G>A
c.631G>A (p.Ala211Thr)
c.724G>A (p.Ala242Thr)
c.445G>A (p.Ala149Thr)
 gnomAD v4
10g.124400955A>CCA378633745OATc.1044T>G (p.Asn348Lys)
n.554T>G
c.630T>G (p.Asn210Lys)
c.723T>G (p.Asn241Lys)
c.444T>G (p.Asn148Lys)
10g.124400955A>GCA471762666OATc.1044T>C (p.Asn348=)
n.554T>C
c.630T>C (p.Asn210=)
c.723T>C (p.Asn241=)
c.444T>C (p.Asn148=)
10g.124400955A>TCA378633746OATc.1044T>A (p.Asn348Lys)
n.554T>A
c.630T>A (p.Asn210Lys)
c.723T>A (p.Asn241Lys)
c.444T>A (p.Asn148Lys)
10g.124400956T>ACA378633748OATc.1043A>T (p.Asn348Ile)
n.553A>T
c.629A>T (p.Asn210Ile)
c.722A>T (p.Asn241Ile)
c.443A>T (p.Asn148Ile)
10g.124400956T>CCA378633749OATc.1043A>G (p.Asn348Ser)
n.553A>G
c.629A>G (p.Asn210Ser)
c.722A>G (p.Asn241Ser)
c.443A>G (p.Asn148Ser)
 gnomAD v4
10g.124400956T>GCA378633747OATc.1043A>C (p.Asn348Thr)
n.553A>C
c.629A>C (p.Asn210Thr)
c.722A>C (p.Asn241Thr)
c.443A>C (p.Asn148Thr)
10g.124400957T>ACA378633750OATc.1042A>T (p.Asn348Tyr)
n.552A>T
c.628A>T (p.Asn210Tyr)
c.721A>T (p.Asn241Tyr)
c.442A>T (p.Asn148Tyr)
10g.124400957T>CCA378633751OATc.1042A>G (p.Asn348Asp)
n.552A>G
c.628A>G (p.Asn210Asp)
c.721A>G (p.Asn241Asp)
c.442A>G (p.Asn148Asp)
10g.124400957T>GCA378633752OATc.1042A>C (p.Asn348His)
n.552A>C
c.628A>C (p.Asn210His)
c.721A>C (p.Asn241His)
c.442A>C (p.Asn148His)
10g.124400958T>ACA378633753OATc.1041A>T (p.Glu347Asp)
n.551A>T
c.627A>T (p.Glu209Asp)
c.720A>T (p.Glu240Asp)
c.441A>T (p.Glu147Asp)
10g.124400958T>CCA471762667OATc.1041A>G (p.Glu347=)
n.551A>G
c.627A>G (p.Glu209=)
c.720A>G (p.Glu240=)
c.441A>G (p.Glu147=)
10g.124400958T>GCA378633754OATc.1041A>C (p.Glu347Asp)
n.551A>C
c.627A>C (p.Glu209Asp)
c.720A>C (p.Glu240Asp)
c.441A>C (p.Glu147Asp)
10g.124400959T>ACA378633757OATc.1040A>T (p.Glu347Val)
n.550A>T
c.626A>T (p.Glu209Val)
c.719A>T (p.Glu240Val)
c.440A>T (p.Glu147Val)
10g.124400959T>CCA378633756OATc.1040A>G (p.Glu347Gly)
n.550A>G
c.626A>G (p.Glu209Gly)
c.719A>G (p.Glu240Gly)
c.440A>G (p.Glu147Gly)
10g.124400959T>GCA378633755OATc.1040A>C (p.Glu347Ala)
n.550A>C
c.626A>C (p.Glu209Ala)
c.719A>C (p.Glu240Ala)
c.440A>C (p.Glu147Ala)
10g.124400960C>ACA378633758OATc.1039G>T (p.Glu347Ter)
n.549G>T
c.625G>T (p.Glu209Ter)
c.718G>T (p.Glu240Ter)
c.439G>T (p.Glu147Ter)
10g.124400960C>GCA378633759OATc.1039G>C (p.Glu347Gln)
n.549G>C
c.625G>C (p.Glu209Gln)
c.718G>C (p.Glu240Gln)
c.439G>C (p.Glu147Gln)
10g.124400960C>TCA378633760OATc.1039G>A (p.Glu347Lys)
n.549G>A
c.625G>A (p.Glu209Lys)
c.718G>A (p.Glu240Lys)
c.439G>A (p.Glu147Lys)
 ClinVar dbSNP
10g.124400961A>CCA471762670OATc.1038T>G (p.Ala346=)
n.548T>G
c.624T>G (p.Ala208=)
c.717T>G (p.Ala239=)
c.438T>G (p.Ala146=)
10g.124400961A>GCA471762668OATc.1038T>C (p.Ala346=)
n.548T>C
c.624T>C (p.Ala208=)
c.717T>C (p.Ala239=)
c.438T>C (p.Ala146=)
10g.124400961A>TCA471762669OATc.1038T>A (p.Ala346=)
n.548T>A
c.624T>A (p.Ala208=)
c.717T>A (p.Ala239=)
c.438T>A (p.Ala146=)
10g.124400962G>ACA378633761OATc.1037C>T (p.Ala346Val)
n.547C>T
c.623C>T (p.Ala208Val)
c.716C>T (p.Ala239Val)
c.437C>T (p.Ala146Val)
 COSMIC
10g.124400962G>CCA378633762OATc.1037C>G (p.Ala346Gly)
n.547C>G
c.623C>G (p.Ala208Gly)
c.716C>G (p.Ala239Gly)
c.437C>G (p.Ala146Gly)
10g.124400962G>TCA378633763OATc.1037C>A (p.Ala346Asp)
n.547C>A
c.623C>A (p.Ala208Asp)
c.716C>A (p.Ala239Asp)
c.437C>A (p.Ala146Asp)
10g.124400963C>ACA378633764OATc.1036G>T (p.Ala346Ser)
n.546G>T
c.622G>T (p.Ala208Ser)
c.715G>T (p.Ala239Ser)
c.436G>T (p.Ala146Ser)
10g.124400963C>GCA378633766OATc.1036G>C (p.Ala346Pro)
n.546G>C
c.622G>C (p.Ala208Pro)
c.715G>C (p.Ala239Pro)
c.436G>C (p.Ala146Pro)
10g.124400963C>TCA378633765OATc.1036G>A (p.Ala346Thr)
n.546G>A
c.622G>A (p.Ala208Thr)
c.715G>A (p.Ala239Thr)
c.436G>A (p.Ala146Thr)
 ClinVar
10g.124400964A=CA1942337040OATc.1035T= (p.Leu345=)
n.545T=
c.621T= (p.Leu207=)
c.714T= (p.Leu238=)
c.435T= (p.Leu145=)
10g.124400964A>CCA471762671OATc.1035T>G (p.Leu345=)
n.545T>G
c.621T>G (p.Leu207=)
c.714T>G (p.Leu238=)
c.435T>G (p.Leu145=)
10g.124400964A>GCA471762672OATc.1035T>C (p.Leu345=)
n.545T>C
c.621T>C (p.Leu207=)
c.714T>C (p.Leu238=)
c.435T>C (p.Leu145=)
 ClinVar dbSNP gnomAD v4
10g.124400964A>TCA471762673OATc.1035T>A (p.Leu345=)
n.545T>A
c.621T>A (p.Leu207=)
c.714T>A (p.Leu238=)
c.435T>A (p.Leu145=)
 ClinVar dbSNP gnomAD v4
10g.124400965A=CA1942337041OATc.1034T= (p.Leu345=)
n.544T=
c.620T= (p.Leu207=)
c.713T= (p.Leu238=)
c.434T= (p.Leu145=)
10g.124400965A>CCA378633767OATc.1034T>G (p.Leu345Arg)
n.544T>G
c.620T>G (p.Leu207Arg)
c.713T>G (p.Leu238Arg)
c.434T>G (p.Leu145Arg)
10g.124400965A>GCA378633768OATc.1034T>C (p.Leu345Pro)
n.544T>C
c.620T>C (p.Leu207Pro)
c.713T>C (p.Leu238Pro)
c.434T>C (p.Leu145Pro)
 dbSNP gnomAD v4
10g.124400965A>TCA378633769OATc.1034T>A (p.Leu345His)
n.544T>A
c.620T>A (p.Leu207His)
c.713T>A (p.Leu238His)
c.434T>A (p.Leu145His)
10g.124400966G>ACA378633770OATc.1033C>T (p.Leu345Phe)
n.543C>T
c.619C>T (p.Leu207Phe)
c.712C>T (p.Leu238Phe)
c.433C>T (p.Leu145Phe)
10g.124400966G>CCA378633771OATc.1033C>G (p.Leu345Val)
n.543C>G
c.619C>G (p.Leu207Val)
c.712C>G (p.Leu238Val)
c.433C>G (p.Leu145Val)
10g.124400966G>TCA378633772OATc.1033C>A (p.Leu345Ile)
n.543C>A
c.619C>A (p.Leu207Ile)
c.712C>A (p.Leu238Ile)
c.433C>A (p.Leu145Ile)
10g.124400967G>ACA471762674OATc.1032C>T (p.Asn344=)
n.542C>T
c.618C>T (p.Asn206=)
c.711C>T (p.Asn237=)
c.432C>T (p.Asn144=)
 ClinVar dbSNP gnomAD v4
10g.124400967G>CCA378633773OATc.1032C>G (p.Asn344Lys)
n.542C>G
c.618C>G (p.Asn206Lys)
c.711C>G (p.Asn237Lys)
c.432C>G (p.Asn144Lys)
10g.124400967G>TCA378633774OATc.1032C>A (p.Asn344Lys)
n.542C>A
c.618C>A (p.Asn206Lys)
c.711C>A (p.Asn237Lys)
c.432C>A (p.Asn144Lys)
 gnomAD v4
10g.124400967_124400968delinsGTCA1942337042OATc.1031_1032delinsAC (p.Asn344=)
n.541_542delinsAC
c.617_618delinsAC (p.Asn206=)
c.710_711delinsAC (p.Asn237=)
c.431_432delinsAC (p.Asn144=)
10g.124400968T>ACA378633775OATc.1031A>T (p.Asn344Ile)
n.541A>T
c.617A>T (p.Asn206Ile)
c.710A>T (p.Asn237Ile)
c.431A>T (p.Asn144Ile)
10g.124400968T>CCA378633776OATc.1031A>G (p.Asn344Ser)
n.541A>G
c.617A>G (p.Asn206Ser)
c.710A>G (p.Asn237Ser)
c.431A>G (p.Asn144Ser)
10g.124400968T>GCA378633777OATc.1031A>C (p.Asn344Thr)
n.541A>C
c.617A>C (p.Asn206Thr)
c.710A>C (p.Asn237Thr)
c.431A>C (p.Asn144Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124400968T=CA1942337043OATc.1031A= (p.Asn344=)
n.541A=
c.617A= (p.Asn206=)
c.710A= (p.Asn237=)
c.431A= (p.Asn144=)
10g.124400971delCA144133OATc.1031del (p.Asn344ThrfsTer13)
n.541del
c.617del (p.Asn206ThrfsTer13)
c.710del (p.Asn237ThrfsTer13)
c.431del (p.Asn144ThrfsTer13)
 ClinVar dbSNP
10g.124400969T>ACA378633780OATc.1030A>T (p.Asn344Tyr)
n.540A>T
c.616A>T (p.Asn206Tyr)
c.709A>T (p.Asn237Tyr)
c.430A>T (p.Asn144Tyr)
10g.124400969T>CCA378633779OATc.1030A>G (p.Asn344Asp)
n.540A>G
c.616A>G (p.Asn206Asp)
c.709A>G (p.Asn237Asp)
c.430A>G (p.Asn144Asp)
10g.124400969T>GCA378633778OATc.1030A>C (p.Asn344His)
n.540A>C
c.616A>C (p.Asn206His)
c.709A>C (p.Asn237His)
c.430A>C (p.Asn144His)
10g.124400969_124400972delinsTTTCCA1942337044OATc.1027_1030delinsGAAA (p.Glu343=)
n.537_540delinsGAAA
c.613_616delinsGAAA (p.Glu205=)
c.706_709delinsGAAA (p.Glu236=)
c.427_430delinsGAAA (p.Glu143=)
10g.124400970T>ACA378633781OATc.1029A>T (p.Glu343Asp)
n.539A>T
c.615A>T (p.Glu205Asp)
c.708A>T (p.Glu236Asp)
c.429A>T (p.Glu143Asp)
10g.124400970T>CCA471762675OATc.1029A>G (p.Glu343=)
n.539A>G
c.615A>G (p.Glu205=)
c.708A>G (p.Glu236=)
c.429A>G (p.Glu143=)
10g.124400970T>GCA378633782OATc.1029A>C (p.Glu343Asp)
n.539A>C
c.615A>C (p.Glu205Asp)
c.708A>C (p.Glu236Asp)
c.429A>C (p.Glu143Asp)
10g.124400977_124400979delCA596407348OATc.1027_1029del (p.Glu343del)
n.537_539del
c.613_615del (p.Glu205del)
c.706_708del (p.Glu236del)
c.427_429del (p.Glu143del)
 dbSNP gnomAD v2 gnomAD v4
10g.124400971T>ACA378633783OATc.1028A>T (p.Glu343Val)
n.538A>T
c.614A>T (p.Glu205Val)
c.707A>T (p.Glu236Val)
c.428A>T (p.Glu143Val)
10g.124400971T>CCA378633784OATc.1028A>G (p.Glu343Gly)
n.538A>G
c.614A>G (p.Glu205Gly)
c.707A>G (p.Glu236Gly)
c.428A>G (p.Glu143Gly)
10g.124400971T>GCA378633785OATc.1028A>C (p.Glu343Ala)
n.538A>C
c.614A>C (p.Glu205Ala)
c.707A>C (p.Glu236Ala)
c.428A>C (p.Glu143Ala)
10g.124400971_124400972insACA2789814250OATc.1027_1028insT (p.Glu343ValfsTer5)
n.537_538insT
c.613_614insT (p.Glu205ValfsTer5)
c.706_707insT (p.Glu236ValfsTer5)
c.427_428insT (p.Glu143ValfsTer5)
10g.124400972C>ACA378633786OATc.1027G>T (p.Glu343Ter)
n.537G>T
c.613G>T (p.Glu205Ter)
c.706G>T (p.Glu236Ter)
c.427G>T (p.Glu143Ter)
10g.124400972C=CA1942337045OATc.1027G= (p.Glu343=)
n.537G=
c.613G= (p.Glu205=)
c.706G= (p.Glu236=)
c.427G= (p.Glu143=)
10g.124400972C>GCA378633787OATc.1027G>C (p.Glu343Gln)
n.537G>C
c.613G>C (p.Glu205Gln)
c.706G>C (p.Glu236Gln)
c.427G>C (p.Glu143Gln)
 ClinVar dbSNP gnomAD v4
10g.124400972C>TCA378633788OATc.1027G>A (p.Glu343Lys)
n.537G>A
c.613G>A (p.Glu205Lys)
c.706G>A (p.Glu236Lys)
c.427G>A (p.Glu143Lys)

Number of alleles fetched