Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204162017A=CA1141978123RENc.245T= (p.Met82=)
c.131T= (p.Met44=)
1g.204162017A>CCA344341456RENc.245T>G (p.Met82Arg)
c.131T>G (p.Met44Arg)
1g.204162017A>GCA344341457RENc.245T>C (p.Met82Thr)
c.131T>C (p.Met44Thr)
 gnomAD v4
1g.204162017A>TCA1345019RENc.245T>A (p.Met82Lys)
c.131T>A (p.Met44Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162018T>ACA344341458RENc.244A>T (p.Met82Leu)
c.130A>T (p.Met44Leu)
1g.204162018T>CCA344341459RENc.244A>G (p.Met82Val)
c.130A>G (p.Met44Val)
 gnomAD v4
1g.204162018T>GCA344341460RENc.244A>C (p.Met82Leu)
c.130A>C (p.Met44Leu)
1g.204162018T=CA2482058094RENc.244A= (p.Met82=)
c.130A= (p.Met44=)
1g.204162019G>ACA422839245RENc.243C>T (p.Tyr81=)
c.129C>T (p.Tyr43=)
 dbSNP gnomAD v4
1g.204162019G>CCA344341462RENc.243C>G (p.Tyr81Ter)
c.129C>G (p.Tyr43Ter)
1g.204162019G=CA2482058095RENc.243C= (p.Tyr81=)
c.129C= (p.Tyr43=)
1g.204162019G>TCA344341461RENc.243C>A (p.Tyr81Ter)
c.129C>A (p.Tyr43Ter)
1g.204162021_204162023dupCA1345020RENc.241_243dup (p.Tyr81_Met82insTyr)
c.127_129dup (p.Tyr43_Met44insTyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162020T>ACA344341469RENc.242A>T (p.Tyr81Phe)
c.128A>T (p.Tyr43Phe)
1g.204162020T>CCA344341464RENc.242A>G (p.Tyr81Cys)
c.128A>G (p.Tyr43Cys)
1g.204162020T>GCA344341467RENc.242A>C (p.Tyr81Ser)
c.128A>C (p.Tyr43Ser)
1g.204162021A>CCA344341472RENc.241T>G (p.Tyr81Asp)
c.127T>G (p.Tyr43Asp)
1g.204162021A>GCA344341474RENc.241T>C (p.Tyr81His)
c.127T>C (p.Tyr43His)
 gnomAD v4
1g.204162021A>TCA344341477RENc.241T>A (p.Tyr81Asn)
c.127T>A (p.Tyr43Asn)
1g.204162022G>ACA1345021RENc.240C>T (p.Asn80=)
c.126C>T (p.Asn42=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162022G>CCA344341480RENc.240C>G (p.Asn80Lys)
c.126C>G (p.Asn42Lys)
1g.204162022G=CA1143730021RENc.240C= (p.Asn80=)
c.126C= (p.Asn42=)
1g.204162022G>TCA344341483RENc.240C>A (p.Asn80Lys)
c.126C>A (p.Asn42Lys)
1g.204162023T>ACA344341486RENc.239A>T (p.Asn80Ile)
c.125A>T (p.Asn42Ile)
1g.204162023T>CCA344341488RENc.239A>G (p.Asn80Ser)
c.125A>G (p.Asn42Ser)
1g.204162023T>GCA344341489RENc.239A>C (p.Asn80Thr)
c.125A>C (p.Asn42Thr)
1g.204162024T>ACA344341497RENc.238A>T (p.Asn80Tyr)
c.124A>T (p.Asn42Tyr)
1g.204162024T>CCA344341495RENc.238A>G (p.Asn80Asp)
c.124A>G (p.Asn42Asp)
1g.204162024T>GCA344341492RENc.238A>C (p.Asn80His)
c.124A>C (p.Asn42His)
1g.204162025G>ACA422839247RENc.237C>T (p.Thr79=)
c.123C>T (p.Thr41=)
1g.204162025G>CCA422839248RENc.237C>G (p.Thr79=)
c.123C>G (p.Thr41=)
1g.204162025G>TCA422839249RENc.237C>A (p.Thr79=)
c.123C>A (p.Thr41=)
1g.204162026G>ACA344341511RENc.236C>T (p.Thr79Ile)
c.122C>T (p.Thr41Ile)
 ClinVar gnomAD v4
1g.204162026G>CCA1345022RENc.236C>G (p.Thr79Ser)
c.122C>G (p.Thr41Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162026G=CA2482058096RENc.236C= (p.Thr79=)
c.122C= (p.Thr41=)
1g.204162026G>TCA344341514RENc.236C>A (p.Thr79Asn)
c.122C>A (p.Thr41Asn)
1g.204162027T>ACA344341517RENc.235A>T (p.Thr79Ser)
c.121A>T (p.Thr41Ser)
1g.204162027T>CCA344341519RENc.235A>G (p.Thr79Ala)
c.121A>G (p.Thr41Ala)
1g.204162027T>GCA344341521RENc.235A>C (p.Thr79Pro)
c.121A>C (p.Thr41Pro)
1g.204162028G>ACA422839250RENc.234C>T (p.Leu78=)
c.120C>T (p.Leu40=)
1g.204162028G>CCA422839251RENc.234C>G (p.Leu78=)
c.120C>G (p.Leu40=)
1g.204162028G>TCA422839252RENc.234C>A (p.Leu78=)
c.120C>A (p.Leu40=)
1g.204162029A>CCA344341525RENc.233T>G (p.Leu78Arg)
c.119T>G (p.Leu40Arg)
1g.204162029A>GCA344341527RENc.233T>C (p.Leu78Pro)
c.119T>C (p.Leu40Pro)
1g.204162029A>TCA344341529RENc.233T>A (p.Leu78His)
c.119T>A (p.Leu40His)
 gnomAD v3 gnomAD v4
1g.204162030G>ACA344341532RENc.232C>T (p.Leu78Phe)
c.118C>T (p.Leu40Phe)
 gnomAD v3 gnomAD v4
1g.204162030G>CCA344341534RENc.232C>G (p.Leu78Val)
c.118C>G (p.Leu40Val)
1g.204162030G=CA2482058097RENc.232C= (p.Leu78=)
c.118C= (p.Leu40=)
1g.204162030G>TCA344341537RENc.232C>A (p.Leu78Ile)
c.118C>A (p.Leu40Ile)
 dbSNP gnomAD v2
1g.204162031G>ACA422839253RENc.231C>T (p.Ile77=)
c.117C>T (p.Ile39=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204162031G>CCA35737821RENc.231C>G (p.Ile77Met)
c.117C>G (p.Ile39Met)
 dbSNP gnomAD v3 gnomAD v4
1g.204162031G=CA1141807409RENc.231C= (p.Ile77=)
c.117C= (p.Ile39=)
1g.204162031G>TCA422839254RENc.231C>A (p.Ile77=)
c.117C>A (p.Ile39=)
1g.204162032A=CA1147805032RENc.230T= (p.Ile77=)
c.116T= (p.Ile39=)
1g.204162032A>CCA1345024RENc.230T>G (p.Ile77Ser)
c.116T>G (p.Ile39Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162032A>GCA1345023RENc.230T>C (p.Ile77Thr)
c.116T>C (p.Ile39Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162032A>TCA344341542RENc.230T>A (p.Ile77Asn)
c.116T>A (p.Ile39Asn)
1g.204162033T>ACA344341549RENc.229A>T (p.Ile77Phe)
c.115A>T (p.Ile39Phe)
 gnomAD v4
1g.204162033T>CCA344341550RENc.229A>G (p.Ile77Val)
c.115A>G (p.Ile39Val)
1g.204162033T>GCA344341553RENc.229A>C (p.Ile77Leu)
c.115A>C (p.Ile39Leu)
1g.204162034C>ACA422839255RENc.228G>T (p.Val76=)
c.114G>T (p.Val38=)
1g.204162034C=CA2482058098RENc.228G= (p.Val76=)
c.114G= (p.Val38=)
1g.204162034C>GCA422839256RENc.228G>C (p.Val76=)
c.114G>C (p.Val38=)
1g.204162034C>TCA35737825RENc.228G>A (p.Val76=)
c.114G>A (p.Val38=)
 dbSNP
1g.204162035A>CCA344341558RENc.227T>G (p.Val76Gly)
c.113T>G (p.Val38Gly)
1g.204162035A>GCA344341559RENc.227T>C (p.Val76Ala)
c.113T>C (p.Val38Ala)
1g.204162035A>TCA344341561RENc.227T>A (p.Val76Glu)
c.113T>A (p.Val38Glu)
 gnomAD v3 gnomAD v4
1g.204162036C>ACA344341563RENc.226G>T (p.Val76Leu)
c.112G>T (p.Val38Leu)
1g.204162036C=CA2482058099RENc.226G= (p.Val76=)
c.112G= (p.Val38=)
1g.204162036C>GCA344341567RENc.226G>C (p.Val76Leu)
c.112G>C (p.Val38Leu)
1g.204162036C>TCA1345025RENc.226G>A (p.Val76Met)
c.112G>A (p.Val38Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.204162037G>ACA1345026RENc.225C>T (p.Ser75=)
c.111C>T (p.Ser37=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162037G>CCA422839258RENc.225C>G (p.Ser75=)
c.111C>G (p.Ser37=)
1g.204162037G=CA1143998057RENc.225C= (p.Ser75=)
c.111C= (p.Ser37=)
1g.204162037G>TCA422839257RENc.225C>A (p.Ser75=)
c.111C>A (p.Ser37=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204162038G>ACA344341572RENc.224C>T (p.Ser75Phe)
c.110C>T (p.Ser37Phe)
1g.204162038G>CCA344341574RENc.224C>G (p.Ser75Cys)
c.110C>G (p.Ser37Cys)
1g.204162038G>TCA344341576RENc.224C>A (p.Ser75Tyr)
c.110C>A (p.Ser37Tyr)
1g.204162039A>CCA344341579RENc.223T>G (p.Ser75Ala)
c.109T>G (p.Ser37Ala)
1g.204162039A>GCA344341583RENc.223T>C (p.Ser75Pro)
c.109T>C (p.Ser37Pro)
1g.204162039A>TCA344341581RENc.223T>A (p.Ser75Thr)
c.109T>A (p.Ser37Thr)
 gnomAD v4
1g.204162040G>ACA1345027RENc.222C>T (p.Ser74=)
c.108C>T (p.Ser36=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162040G>CCA422839259RENc.222C>G (p.Ser74=)
c.108C>G (p.Ser36=)
1g.204162040G=CA2482058100RENc.222C= (p.Ser74=)
c.108C= (p.Ser36=)
1g.204162040G>TCA422839260RENc.222C>A (p.Ser74=)
c.108C>A (p.Ser36=)
1g.204162041G>ACA1345029RENc.221C>T (p.Ser74Phe)
c.107C>T (p.Ser36Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162041G>CCA344341590RENc.221C>G (p.Ser74Cys)
c.107C>G (p.Ser36Cys)
1g.204162041G=CA1144954157RENc.221C= (p.Ser74=)
c.107C= (p.Ser36=)
1g.204162041G>TCA1345028RENc.221C>A (p.Ser74Tyr)
c.107C>A (p.Ser36Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162042A>CCA344341594RENc.220T>G (p.Ser74Ala)
c.106T>G (p.Ser36Ala)
1g.204162042A>GCA344341596RENc.220T>C (p.Ser74Pro)
c.106T>C (p.Ser36Pro)
1g.204162042A>TCA344341598RENc.220T>A (p.Ser74Thr)
c.106T>A (p.Ser36Thr)
1g.204162043G>ACA422839261RENc.219C>T (p.Thr73=)
c.105C>T (p.Thr35=)
 dbSNP gnomAD v3 gnomAD v4
1g.204162043G>CCA422839262RENc.219C>G (p.Thr73=)
c.105C>G (p.Thr35=)
1g.204162043G=CA2482058101RENc.219C= (p.Thr73=)
c.105C= (p.Thr35=)
1g.204162043G>TCA422839263RENc.219C>A (p.Thr73=)
c.105C>A (p.Thr35=)
1g.204162044G>ACA344341659RENc.218C>T (p.Thr73Ile)
c.104C>T (p.Thr35Ile)
 dbSNP
1g.204162044G>CCA344341662RENc.218C>G (p.Thr73Ser)
c.104C>G (p.Thr35Ser)
1g.204162044G=CA2482058102RENc.218C= (p.Thr73=)
c.104C= (p.Thr35=)
1g.204162044G>TCA1345030RENc.218C>A (p.Thr73Asn)
c.104C>A (p.Thr35Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162045T>ACA344341668RENc.217A>T (p.Thr73Ser)
c.103A>T (p.Thr35Ser)
1g.204162045T>CCA344341670RENc.217A>G (p.Thr73Ala)
c.103A>G (p.Thr35Ala)
 gnomAD v4
1g.204162045T>GCA344341672RENc.217A>C (p.Thr73Pro)
c.103A>C (p.Thr35Pro)
1g.204162046G>ACA1345031RENc.216C>T (p.Thr72=)
c.102C>T (p.Thr34=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162046G>CCA422839264RENc.216C>G (p.Thr72=)
c.102C>G (p.Thr34=)
1g.204162046G=CA2482058103RENc.216C= (p.Thr72=)
c.102C= (p.Thr34=)
1g.204162046G>TCA422839265RENc.216C>A (p.Thr72=)
c.102C>A (p.Thr34=)
1g.204162047G>ACA344341680RENc.215C>T (p.Thr72Ile)
c.101C>T (p.Thr34Ile)
 gnomAD v4
1g.204162047G>CCA344341678RENc.215C>G (p.Thr72Ser)
c.101C>G (p.Thr34Ser)
 gnomAD v4
1g.204162047G=CA1146502978RENc.215C= (p.Thr72=)
c.101C= (p.Thr34=)
1g.204162047G>TCA1345032RENc.215C>A (p.Thr72Asn)
c.101C>A (p.Thr34Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162048T>ACA344341684RENc.214A>T (p.Thr72Ser)
c.100A>T (p.Thr34Ser)
1g.204162048T>CCA344341686RENc.214A>G (p.Thr72Ala)
c.100A>G (p.Thr34Ala)
1g.204162048T>GCA344341689RENc.214A>C (p.Thr72Pro)
c.100A>C (p.Thr34Pro)
1g.204162049G>ACA35737835RENc.213C>T (p.Asn71=)
c.99C>T (p.Asn33=)
 dbSNP gnomAD v2 gnomAD v4
1g.204162049G>CCA344341693RENc.213C>G (p.Asn71Lys)
c.99C>G (p.Asn33Lys)
1g.204162049G=CA1146315278RENc.213C= (p.Asn71=)
c.99C= (p.Asn33=)
1g.204162049G>TCA344341696RENc.213C>A (p.Asn71Lys)
c.99C>A (p.Asn33Lys)
1g.204162050T>ACA344341704RENc.212A>T (p.Asn71Ile)
c.98A>T (p.Asn33Ile)
1g.204162050T>CCA344341701RENc.212A>G (p.Asn71Ser)
c.98A>G (p.Asn33Ser)
1g.204162050T>GCA344341698RENc.212A>C (p.Asn71Thr)
c.98A>C (p.Asn33Thr)
1g.204162051T>ACA344341708RENc.211A>T (p.Asn71Tyr)
c.97A>T (p.Asn33Tyr)
1g.204162051T>CCA1345033RENc.211A>G (p.Asn71Asp)
c.97A>G (p.Asn33Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162051T>GCA344341712RENc.211A>C (p.Asn71His)
c.97A>C (p.Asn33His)
1g.204162051T=CA2482058104RENc.211A= (p.Asn71=)
c.97A= (p.Asn33=)
1g.204162052delCA2747425980RENc.210del (p.Asn71ThrfsTer6)
c.96del (p.Asn33ThrfsTer6)
1g.204162052G>ACA422839313RENc.210C>T (p.Gly70=)
c.96C>T (p.Gly32=)
 dbSNP gnomAD v3 gnomAD v4
1g.204162052G>CCA422839314RENc.210C>G (p.Gly70=)
c.96C>G (p.Gly32=)
1g.204162052G=CA2482058105RENc.210C= (p.Gly70=)
c.96C= (p.Gly32=)
1g.204162052G>TCA422839315RENc.210C>A (p.Gly70=)
c.96C>A (p.Gly32=)
1g.204162053C>ACA344341716RENc.209G>T (p.Gly70Val)
c.95G>T (p.Gly32Val)
1g.204162053C=CA2482058106RENc.209G= (p.Gly70=)
c.95G= (p.Gly32=)
1g.204162053C>GCA344341718RENc.209G>C (p.Gly70Ala)
c.95G>C (p.Gly32Ala)
1g.204162053C>TCA1345034RENc.209G>A (p.Gly70Asp)
c.95G>A (p.Gly32Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162054C>ACA344341722RENc.208G>T (p.Gly70Cys)
c.94G>T (p.Gly32Cys)
1g.204162054C>GCA344341727RENc.208G>C (p.Gly70Arg)
c.94G>C (p.Gly32Arg)
1g.204162054C>TCA344341725RENc.208G>A (p.Gly70Ser)
c.94G>A (p.Gly32Ser)
1g.204162054_204162058delinsCAAGTCA2482058107RENc.204_208delinsACTTG (p.Thr68=)
c.90_94delinsACTTG (p.Thr30=)
1g.204162055A=CA2482058108RENc.207T= (p.Leu69=)
c.93T= (p.Leu31=)
1g.204162055A>CCA422839316RENc.207T>G (p.Leu69=)
c.93T>G (p.Leu31=)
 gnomAD v4
1g.204162055A>GCA1345036RENc.207T>C (p.Leu69=)
c.93T>C (p.Leu31=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162055A>TCA422839317RENc.207T>A (p.Leu69=)
c.93T>A (p.Leu31=)
1g.204162055_204162058delCA1345035RENc.204_207del (p.Leu69AlafsTer7)
c.90_93del (p.Leu31AlafsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162056A>CCA344341733RENc.206T>G (p.Leu69Arg)
c.92T>G (p.Leu31Arg)
1g.204162056A>GCA344341735RENc.206T>C (p.Leu69Pro)
c.92T>C (p.Leu31Pro)
1g.204162056A>TCA344341737RENc.206T>A (p.Leu69His)
c.92T>A (p.Leu31His)
1g.204162057G>ACA344341739RENc.205C>T (p.Leu69Phe)
c.91C>T (p.Leu31Phe)
 gnomAD v4
1g.204162057G>CCA35737842RENc.205C>G (p.Leu69Val)
c.91C>G (p.Leu31Val)
 dbSNP
1g.204162057G=CA2482058109RENc.205C= (p.Leu69=)
c.91C= (p.Leu31=)
1g.204162057G>TCA344341742RENc.205C>A (p.Leu69Ile)
c.91C>A (p.Leu31Ile)
1g.204162058T>ACA422839319RENc.204A>T (p.Thr68=)
c.90A>T (p.Thr30=)
1g.204162058T>CCA422839318RENc.204A>G (p.Thr68=)
c.90A>G (p.Thr30=)
1g.204162058T>GCA1345037RENc.204A>C (p.Thr68=)
c.90A>C (p.Thr30=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162058T=CA1139773017RENc.204A= (p.Thr68=)
c.90A= (p.Thr30=)
1g.204162059G>ACA35737848RENc.203C>T (p.Thr68Ile)
c.89C>T (p.Thr30Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204162059G>CCA344341748RENc.203C>G (p.Thr68Arg)
c.89C>G (p.Thr30Arg)
1g.204162059G=CA2482058110RENc.203C= (p.Thr68=)
c.89C= (p.Thr30=)
1g.204162059G>TCA344341750RENc.203C>A (p.Thr68Lys)
c.89C>A (p.Thr30Lys)
1g.204162060T>ACA344341757RENc.202A>T (p.Thr68Ser)
c.88A>T (p.Thr30Ser)
1g.204162060T>CCA344341753RENc.202A>G (p.Thr68Ala)
c.88A>G (p.Thr30Ala)
1g.204162060T>GCA344341755RENc.202A>C (p.Thr68Pro)
c.88A>C (p.Thr30Pro)
1g.204162061C>ACA422839320RENc.201G>T (p.Leu67=)
c.87G>T (p.Leu29=)
1g.204162061C>GCA422839321RENc.201G>C (p.Leu67=)
c.87G>C (p.Leu29=)
1g.204162061C>TCA422839322RENc.201G>A (p.Leu67=)
c.87G>A (p.Leu29=)
 COSMIC
1g.204162062A>CCA344341758RENc.200T>G (p.Leu67Arg)
c.86T>G (p.Leu29Arg)
1g.204162062A>GCA344341759RENc.200T>C (p.Leu67Pro)
c.86T>C (p.Leu29Pro)
1g.204162062A>TCA344341760RENc.200T>A (p.Leu67Gln)
c.86T>A (p.Leu29Gln)
1g.204162063G>ACA1345038RENc.199C>T (p.Leu67=)
c.85C>T (p.Leu29=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162063G>CCA344341763RENc.199C>G (p.Leu67Val)
c.85C>G (p.Leu29Val)
1g.204162063G=CA2482058111RENc.199C= (p.Leu67=)
c.85C= (p.Leu29=)
1g.204162063G>TCA344341765RENc.199C>A (p.Leu67Met)
c.85C>A (p.Leu29Met)
1g.204162064C>ACA344341766RENc.198G>T (p.Arg66Ser)
c.84G>T (p.Arg28Ser)
1g.204162064C>GCA344341768RENc.198G>C (p.Arg66Ser)
c.84G>C (p.Arg28Ser)
1g.204162064C>TCA422839323RENc.198G>A (p.Arg66=)
c.84G>A (p.Arg28=)
1g.204162065C>ACA1345039RENc.197G>T (p.Arg66Met)
c.83G>T (p.Arg28Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162065C=CA2482058112RENc.197G= (p.Arg66=)
c.83G= (p.Arg28=)
1g.204162065C>GCA344341770RENc.197G>C (p.Arg66Thr)
c.83G>C (p.Arg28Thr)
1g.204162065C>TCA344341772RENc.197G>A (p.Arg66Lys)
c.83G>A (p.Arg28Lys)
1g.204162066T>ACA344341774RENc.196A>T (p.Arg66Trp)
c.82A>T (p.Arg28Trp)
1g.204162066T>CCA344341775RENc.196A>G (p.Arg66Gly)
c.82A>G (p.Arg28Gly)
1g.204162066T>GCA422839324RENc.196A>C (p.Arg66=)
c.82A>C (p.Arg28=)
1g.204162067C>ACA344341780RENc.195G>T (p.Lys65Asn)
c.81G>T (p.Lys27Asn)
1g.204162067C=CA2482058113RENc.195G= (p.Lys65=)
c.81G= (p.Lys27=)
1g.204162067C>GCA344341777RENc.195G>C (p.Lys65Asn)
c.81G>C (p.Lys27Asn)
1g.204162067C>TCA422839325RENc.195G>A (p.Lys65=)
c.81G>A (p.Lys27=)
 dbSNP gnomAD v2 gnomAD v4
1g.204162068T>ACA344341781RENc.194A>T (p.Lys65Met)
c.80A>T (p.Lys27Met)
1g.204162068T>CCA344341783RENc.194A>G (p.Lys65Arg)
c.80A>G (p.Lys27Arg)
1g.204162068T>GCA344341784RENc.194A>C (p.Lys65Thr)
c.80A>C (p.Lys27Thr)
1g.204162069T>ACA344341786RENc.193A>T (p.Lys65Ter)
c.79A>T (p.Lys27Ter)
1g.204162069T>CCA344341788RENc.193A>G (p.Lys65Glu)
c.79A>G (p.Lys27Glu)
1g.204162069T>GCA344341790RENc.193A>C (p.Lys65Gln)
c.79A>C (p.Lys27Gln)
1g.204162069_204162070delinsTCCA2482058114RENc.192_193delinsGA (p.Met64=)
c.78_79delinsGA (p.Met26=)
1g.204162070delCA1345040RENc.192del (p.Met64IlefsTer4)
c.78del (p.Met26IlefsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162070C>ACA344341793RENc.192G>T (p.Met64Ile)
c.78G>T (p.Met26Ile)
1g.204162070C>GCA344341795RENc.192G>C (p.Met64Ile)
c.78G>C (p.Met26Ile)
1g.204162070C>TCA344341797RENc.192G>A (p.Met64Ile)
c.78G>A (p.Met26Ile)
1g.204162071A=CA2482058115RENc.191T= (p.Met64=)
c.77T= (p.Met26=)
1g.204162071A>CCA344341801RENc.191T>G (p.Met64Arg)
c.77T>G (p.Met26Arg)
1g.204162071A>GCA344341802RENc.191T>C (p.Met64Thr)
c.77T>C (p.Met26Thr)
1g.204162071A>TCA344341804RENc.191T>A (p.Met64Lys)
c.77T>A (p.Met26Lys)
 dbSNP gnomAD v4
1g.204162072T>ACA344341806RENc.190A>T (p.Met64Leu)
c.76A>T (p.Met26Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.204162072T>CCA35737858RENc.190A>G (p.Met64Val)
c.76A>G (p.Met26Val)
 dbSNP gnomAD v4
1g.204162072T>GCA344341808RENc.190A>C (p.Met64Leu)
c.76A>C (p.Met26Leu)
1g.204162072T=CA2482058116RENc.190A= (p.Met64=)
c.76A= (p.Met26=)
1g.204162073G>ACA422839326RENc.189C>T (p.Pro63=)
c.75C>T (p.Pro25=)
 dbSNP gnomAD v2 gnomAD v4
1g.204162073G>CCA422839327RENc.189C>G (p.Pro63=)
c.75C>G (p.Pro25=)
1g.204162073G=CA2482058117RENc.189C= (p.Pro63=)
c.75C= (p.Pro25=)
1g.204162073G>TCA422839328RENc.189C>A (p.Pro63=)
c.75C>A (p.Pro25=)
1g.204162074G>ACA344341811RENc.188C>T (p.Pro63Leu)
c.74C>T (p.Pro25Leu)
1g.204162074G>CCA344341815RENc.188C>G (p.Pro63Arg)
c.74C>G (p.Pro25Arg)
 dbSNP
1g.204162074G=CA2482058118RENc.188C= (p.Pro63=)
c.74C= (p.Pro25=)
1g.204162074G>TCA344341813RENc.188C>A (p.Pro63His)
c.74C>A (p.Pro25His)
 gnomAD v4
1g.204162075G>ACA344341817RENc.187C>T (p.Pro63Ser)
c.73C>T (p.Pro25Ser)
1g.204162075G>CCA344341819RENc.187C>G (p.Pro63Ala)
c.73C>G (p.Pro25Ala)
1g.204162075G>TCA344341821RENc.187C>A (p.Pro63Thr)
c.73C>A (p.Pro25Thr)
 gnomAD v4
1g.204162076T>ACA344341823RENc.186A>T (p.Gln62His)
c.72A>T (p.Gln24His)
1g.204162076T>CCA422839329RENc.186A>G (p.Gln62=)
c.72A>G (p.Gln24=)
1g.204162076T>GCA344341825RENc.186A>C (p.Gln62His)
c.72A>C (p.Gln24His)
1g.204162076_204162079delinsTTGGCA2482058119RENc.183_186delinsCCAA (p.Ser61=)
c.69_72delinsCCAA (p.Ser23=)
1g.204162077T>ACA344341827RENc.185A>T (p.Gln62Leu)
c.71A>T (p.Gln24Leu)
1g.204162077T>CCA344341829RENc.185A>G (p.Gln62Arg)
c.71A>G (p.Gln24Arg)
1g.204162077T>GCA344341831RENc.185A>C (p.Gln62Pro)
c.71A>C (p.Gln24Pro)
 gnomAD v4
1g.204162077_204162079delCA2482058120RENc.183_185del (p.Ser61_Gln62delinsArg)
c.69_71del (p.Ser23_Gln24delinsArg)
 dbSNP gnomAD v4
1g.204162078G>ACA344341832RENc.184C>T (p.Gln62Ter)
c.70C>T (p.Gln24Ter)
1g.204162078G>CCA344341834RENc.184C>G (p.Gln62Glu)
c.70C>G (p.Gln24Glu)
1g.204162078G>TCA344341836RENc.184C>A (p.Gln62Lys)
c.70C>A (p.Gln24Lys)
1g.204162079G>ACA422839330RENc.183C>T (p.Ser61=)
c.69C>T (p.Ser23=)
 COSMIC
1g.204162079G>CCA344341837RENc.183C>G (p.Ser61Arg)
c.69C>G (p.Ser23Arg)
1g.204162079G>TCA344341838RENc.183C>A (p.Ser61Arg)
c.69C>A (p.Ser23Arg)
1g.204162080C>ACA344341840RENc.182G>T (p.Ser61Ile)
c.68G>T (p.Ser23Ile)
1g.204162080C>GCA344341842RENc.182G>C (p.Ser61Thr)
c.68G>C (p.Ser23Thr)
1g.204162080C>TCA344341841RENc.182G>A (p.Ser61Asn)
c.68G>A (p.Ser23Asn)
 gnomAD v4
1g.204162081T>ACA344341844RENc.181A>T (p.Ser61Cys)
c.67A>T (p.Ser23Cys)
1g.204162081T>CCA344341845RENc.181A>G (p.Ser61Gly)
c.67A>G (p.Ser23Gly)
 dbSNP gnomAD v4
1g.204162081T>GCA344341846RENc.181A>C (p.Ser61Arg)
c.67A>C (p.Ser23Arg)
1g.204162081T=CA2482058121RENc.181A= (p.Ser61=)
c.67A= (p.Ser23=)
1g.204162082C>ACA344341848RENc.180G>T (p.Trp60Cys)
c.66G>T (p.Trp22Cys)
1g.204162082C>GCA344341850RENc.180G>C (p.Trp60Cys)
c.66G>C (p.Trp22Cys)
1g.204162082C>TCA344341851RENc.180G>A (p.Trp60Ter)
c.66G>A (p.Trp22Ter)
1g.204162083C>ACA344341853RENc.179G>T (p.Trp60Leu)
c.65G>T (p.Trp22Leu)
1g.204162083C>GCA344341854RENc.179G>C (p.Trp60Ser)
c.65G>C (p.Trp22Ser)
1g.204162083C>TCA344341855RENc.179G>A (p.Trp60Ter)
c.65G>A (p.Trp22Ter)
 gnomAD v4
1g.204162084A=CA2482058122RENc.178T= (p.Trp60=)
c.64T= (p.Trp22=)
1g.204162084A>CCA35737860RENc.178T>G (p.Trp60Gly)
c.64T>G (p.Trp22Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.204162084A>GCA344341857RENc.178T>C (p.Trp60Arg)
c.64T>C (p.Trp22Arg)
1g.204162084A>TCA1345041RENc.178T>A (p.Trp60Arg)
c.64T>A (p.Trp22Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162085C>ACA344341861RENc.177G>T (p.Glu59Asp)
c.63G>T (p.Glu21Asp)
1g.204162085C>GCA344341862RENc.177G>C (p.Glu59Asp)
c.63G>C (p.Glu21Asp)
1g.204162085C>TCA422839333RENc.177G>A (p.Glu59=)
c.63G>A (p.Glu21=)
 gnomAD v4
1g.204162086T>ACA344341865RENc.176A>T (p.Glu59Val)
c.62A>T (p.Glu21Val)
1g.204162086T>CCA344341867RENc.176A>G (p.Glu59Gly)
c.62A>G (p.Glu21Gly)
1g.204162086T>GCA344341869RENc.176A>C (p.Glu59Ala)
c.62A>C (p.Glu21Ala)
1g.204162087C>ACA344341871RENc.175G>T (p.Glu59Ter)
c.61G>T (p.Glu21Ter)
1g.204162087C=CA2482058123RENc.175G= (p.Glu59=)
c.61G= (p.Glu21=)
1g.204162087C>GCA344341873RENc.175G>C (p.Glu59Gln)
c.61G>C (p.Glu21Gln)
1g.204162087C>TCA1345042RENc.175G>A (p.Glu59Lys)
c.61G>A (p.Glu21Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204162088G>ACA1345043RENc.174C>T (p.Pro58=)
c.60C>T (p.Pro20=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.204162088G>CCA422839334RENc.174C>G (p.Pro58=)
c.60C>G (p.Pro20=)
1g.204162088G=CA2482058124RENc.174C= (p.Pro58=)
c.60C= (p.Pro20=)
1g.204162088G>TCA422839336RENc.174C>A (p.Pro58=)
c.60C>A (p.Pro20=)
1g.204162089G>ACA344341877RENc.173C>T (p.Pro58Leu)
c.59C>T (p.Pro20Leu)
 dbSNP
1g.204162089G>CCA344341879RENc.173C>G (p.Pro58Arg)
c.59C>G (p.Pro20Arg)
1g.204162089G>TCA344341881RENc.173C>A (p.Pro58His)
c.59C>A (p.Pro20His)
1g.204162090G>ACA344341887RENc.172C>T (p.Pro58Ser)
c.58C>T (p.Pro20Ser)
1g.204162090G>CCA344341883RENc.172C>G (p.Pro58Ala)
c.58C>G (p.Pro20Ala)
1g.204162090G>TCA344341885RENc.172C>A (p.Pro58Thr)
c.58C>A (p.Pro20Thr)
1g.204162091A>CCA422839341RENc.171T>G (p.Gly57=)
c.57T>G (p.Gly19=)
1g.204162091A>GCA422839343RENc.171T>C (p.Gly57=)
c.57T>C (p.Gly19=)
1g.204162091A>TCA422839342RENc.171T>A (p.Gly57=)
c.57T>A (p.Gly19=)
1g.204162092C>ACA344341890RENc.170G>T (p.Gly57Val)
c.56G>T (p.Gly19Val)
1g.204162092C=CA2482058125RENc.170G= (p.Gly57=)
c.56G= (p.Gly19=)
1g.204162092C>GCA344341892RENc.170G>C (p.Gly57Ala)
c.56G>C (p.Gly19Ala)
1g.204162092C>TCA344341894RENc.170G>A (p.Gly57Asp)
c.56G>A (p.Gly19Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.204162093C>ACA344341897RENc.169G>T (p.Gly57Cys)
c.55G>T (p.Gly19Cys)
1g.204162093C=CA2482058126RENc.169G= (p.Gly57=)
c.55G= (p.Gly19=)
1g.204162093C>GCA344341899RENc.169G>C (p.Gly57Arg)
c.55G>C (p.Gly19Arg)
1g.204162093C>TCA1345044RENc.169G>A (p.Gly57Ser)
c.55G>A (p.Gly19Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162094A>CCA422839344RENc.168T>G (p.Leu56=)
c.54T>G (p.Leu18=)
1g.204162094A>GCA422839345RENc.168T>C (p.Leu56=)
c.54T>C (p.Leu18=)
1g.204162094A>TCA422839346RENc.168T>A (p.Leu56=)
c.54T>A (p.Leu18=)
1g.204162095A>CCA344341901RENc.167T>G (p.Leu56Arg)
c.53T>G (p.Leu18Arg)
1g.204162095A>GCA344341903RENc.167T>C (p.Leu56Pro)
c.53T>C (p.Leu18Pro)
1g.204162095A>TCA344341905RENc.167T>A (p.Leu56His)
c.53T>A (p.Leu18His)
1g.204162096G>ACA344341907RENc.166C>T (p.Leu56Phe)
c.52C>T (p.Leu18Phe)
1g.204162096G>CCA344341909RENc.166C>G (p.Leu56Val)
c.52C>G (p.Leu18Val)
1g.204162096G>TCA344341910RENc.166C>A (p.Leu56Ile)
c.52C>A (p.Leu18Ile)
1g.204162097C>ACA1345045RENc.165G>T (p.Arg55Ser)
c.51G>T (p.Arg17Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162097C=CA1143540477RENc.165G= (p.Arg55=)
c.51G= (p.Arg17=)
1g.204162097C>GCA1345046RENc.165G>C (p.Arg55Ser)
c.51G>C (p.Arg17Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162097C>TCA422839347RENc.165G>A (p.Arg55=)
c.51G>A (p.Arg17=)
 gnomAD v4
1g.204162098C>ACA344341915RENc.164G>T (p.Arg55Met)
c.50G>T (p.Arg17Met)
 gnomAD v4
1g.204162098C=CA2482058127RENc.164G= (p.Arg55=)
c.50G= (p.Arg17=)
1g.204162098C>GCA35737883RENc.164G>C (p.Arg55Thr)
c.50G>C (p.Arg17Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.204162098C>TCA344341917RENc.164G>A (p.Arg55Lys)
c.50G>A (p.Arg17Lys)
 gnomAD v4
1g.204162099T>ACA344341919RENc.163A>T (p.Arg55Trp)
c.49A>T (p.Arg17Trp)
1g.204162099T>CCA344341921RENc.163A>G (p.Arg55Gly)
c.49A>G (p.Arg17Gly)
1g.204162099T>GCA422839348RENc.163A>C (p.Arg55=)
c.49A>C (p.Arg17=)
1g.204162100G>ACA1345047RENc.162C>T (p.Ala54=)
c.48C>T (p.Ala16=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162100G>CCA422839349RENc.162C>G (p.Ala54=)
c.48C>G (p.Ala16=)
1g.204162100G=CA2482058128RENc.162C= (p.Ala54=)
c.48C= (p.Ala16=)
1g.204162100G>TCA422839350RENc.162C>A (p.Ala54=)
c.48C>A (p.Ala16=)
1g.204162101G>ACA344341924RENc.161C>T (p.Ala54Val)
c.47C>T (p.Ala16Val)
 gnomAD v4
1g.204162101G>CCA344341926RENc.161C>G (p.Ala54Gly)
c.47C>G (p.Ala16Gly)
1g.204162101G>TCA344341927RENc.161C>A (p.Ala54Asp)
c.47C>A (p.Ala16Asp)
1g.204162102C>ACA344341928RENc.160G>T (p.Ala54Ser)
c.46G>T (p.Ala16Ser)
 gnomAD v4
1g.204162102C>GCA344341929RENc.160G>C (p.Ala54Pro)
c.46G>C (p.Ala16Pro)
1g.204162102C>TCA344341931RENc.160G>A (p.Ala54Thr)
c.46G>A (p.Ala16Thr)
 COSMIC
1g.204162103C>ACA344341934RENc.159G>T (p.Met53Ile)
c.45G>T (p.Met15Ile)
1g.204162103C=CA2482058129RENc.159G= (p.Met53=)
c.45G= (p.Met15=)
1g.204162103C>GCA344341935RENc.159G>C (p.Met53Ile)
c.45G>C (p.Met15Ile)
1g.204162103C>TCA344341937RENc.159G>A (p.Met53Ile)
c.45G>A (p.Met15Ile)
 dbSNP
1g.204162104A=CA2482058130RENc.158T= (p.Met53=)
c.44T= (p.Met15=)
1g.204162104A>CCA344341942RENc.158T>G (p.Met53Arg)
c.44T>G (p.Met15Arg)
1g.204162104A>GCA344341939RENc.158T>C (p.Met53Thr)
c.44T>C (p.Met15Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.204162104A>TCA344341940RENc.158T>A (p.Met53Lys)
c.44T>A (p.Met15Lys)
1g.204162105T>ACA344341944RENc.157A>T (p.Met53Leu)
c.43A>T (p.Met15Leu)
1g.204162105T>CCA344341946RENc.157A>G (p.Met53Val)
c.43A>G (p.Met15Val)
 ClinVar gnomAD v4
1g.204162105T>GCA344341947RENc.157A>C (p.Met53Leu)
c.43A>C (p.Met15Leu)
1g.204162106G>ACA422839351RENc.156C>T (p.Asp52=)
c.42C>T (p.Asp14=)
1g.204162106G>CCA344341949RENc.156C>G (p.Asp52Glu)
c.42C>G (p.Asp14Glu)
1g.204162106G>TCA344341951RENc.156C>A (p.Asp52Glu)
c.42C>A (p.Asp14Glu)
1g.204162107T>ACA344341953RENc.155A>T (p.Asp52Val)
c.41A>T (p.Asp14Val)
1g.204162107T>CCA344341955RENc.155A>G (p.Asp52Gly)
c.41A>G (p.Asp14Gly)
1g.204162107T>GCA344341956RENc.155A>C (p.Asp52Ala)
c.41A>C (p.Asp14Ala)
1g.204162108C>ACA344341958RENc.154G>T (p.Asp52Tyr)
c.40G>T (p.Asp14Tyr)
 gnomAD v4
1g.204162108C=CA1148266790RENc.154G= (p.Asp52=)
c.40G= (p.Asp14=)
1g.204162108C>GCA1345048RENc.154G>C (p.Asp52His)
c.40G>C (p.Asp14His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162108C>TCA344341961RENc.154G>A (p.Asp52Asn)
c.40G>A (p.Asp14Asn)
1g.204162109C>ACA422839353RENc.153G>T (p.Val51=)
c.39G>T (p.Val13=)
1g.204162109C>GCA422839354RENc.153G>C (p.Val51=)
c.39G>C (p.Val13=)
1g.204162109C>TCA422839355RENc.153G>A (p.Val51=)
c.39G>A (p.Val13=)
1g.204162110A>CCA344341967RENc.152T>G (p.Val51Gly)
c.38T>G (p.Val13Gly)
1g.204162110A>GCA344341965RENc.152T>C (p.Val51Ala)
c.38T>C (p.Val13Ala)
 gnomAD v4
1g.204162110A>TCA344341963RENc.152T>A (p.Val51Glu)
c.38T>A (p.Val13Glu)
1g.204162111C>ACA344341973RENc.151G>T (p.Val51Leu)
c.37G>T (p.Val13Leu)
1g.204162111C>GCA344341970RENc.151G>C (p.Val51Leu)
c.37G>C (p.Val13Leu)
1g.204162111C>TCA344341971RENc.151G>A (p.Val51Met)
c.37G>A (p.Val13Met)
1g.204162112A>CCA422839356RENc.150T>G (p.Gly50=)
c.36T>G (p.Gly12=)
1g.204162112A>GCA422839358RENc.150T>C (p.Gly50=)
c.36T>C (p.Gly12=)
 gnomAD v4
1g.204162112A>TCA422839357RENc.150T>A (p.Gly50=)
c.36T>A (p.Gly12=)
1g.204162113C>ACA344341976RENc.149G>T (p.Gly50Val)
c.35G>T (p.Gly12Val)
 gnomAD v4
1g.204162113C>GCA344341978RENc.149G>C (p.Gly50Ala)
c.35G>C (p.Gly12Ala)
1g.204162113C>TCA344341980RENc.149G>A (p.Gly50Asp)
c.35G>A (p.Gly12Asp)
1g.204162114C>ACA344341982RENc.148G>T (p.Gly50Cys)
c.34G>T (p.Gly12Cys)
1g.204162114C>GCA344341984RENc.148G>C (p.Gly50Arg)
c.34G>C (p.Gly12Arg)
1g.204162114C>TCA344341986RENc.148G>A (p.Gly50Ser)
c.34G>A (p.Gly12Ser)
1g.204162115T>ACA422839359RENc.147A>T (p.Arg49=)
c.33A>T (p.Arg11=)
1g.204162115T>CCA422839360RENc.147A>G (p.Arg49=)
c.33A>G (p.Arg11=)
1g.204162115T>GCA422839361RENc.147A>C (p.Arg49=)
c.33A>C (p.Arg11=)
1g.204162116C>ACA344341988RENc.146G>T (p.Arg49Leu)
c.32G>T (p.Arg11Leu)
1g.204162116C=CA2482058131RENc.146G= (p.Arg49=)
c.32G= (p.Arg11=)
1g.204162116C>GCA344341990RENc.146G>C (p.Arg49Pro)
c.32G>C (p.Arg11Pro)
1g.204162116C>TCA1345049RENc.146G>A (p.Arg49Gln)
c.32G>A (p.Arg11Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162117G>ACA122846RENc.145C>T (p.Arg49Ter)
c.31C>T (p.Arg11Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162117G>CCA344341993RENc.145C>G (p.Arg49Gly)
c.31C>G (p.Arg11Gly)
1g.204162117G=CA1141581510RENc.145C= (p.Arg49=)
c.31C= (p.Arg11=)
1g.204162117G>TCA422839362RENc.145C>A (p.Arg49=)
c.31C>A (p.Arg11=)

Number of alleles fetched