Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.35805901C>ACA450125314LHFPL5c.231C>A (p.Leu77=)
c.63C>A (p.Leu21=)
6g.35805901C=CA1621062603LHFPL5c.231C= (p.Leu77=)
c.63C= (p.Leu21=)
6g.35805901C>GCA3774361LHFPL5c.231C>G (p.Leu77=)
c.63C>G (p.Leu21=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805901C>TCA450125315LHFPL5c.231C>T (p.Leu77=)
c.63C>T (p.Leu21=)
gnomAD v4
6g.35805902A>CCA363784540LHFPL5c.232A>C (p.Ile78Leu)
c.64A>C (p.Ile22Leu)
6g.35805902A>GCA363784541LHFPL5c.232A>G (p.Ile78Val)
c.64A>G (p.Ile22Val)
6g.35805902A>TCA363784542LHFPL5c.232A>T (p.Ile78Phe)
c.64A>T (p.Ile22Phe)
6g.35805903T>ACA363784543LHFPL5c.233T>A (p.Ile78Asn)
c.65T>A (p.Ile22Asn)
6g.35805903T>CCA363784545LHFPL5c.233T>C (p.Ile78Thr)
c.65T>C (p.Ile22Thr)
gnomAD v4
6g.35805903T>GCA363784544LHFPL5c.233T>G (p.Ile78Ser)
c.65T>G (p.Ile22Ser)
6g.35805904C>ACA450125316LHFPL5c.234C>A (p.Ile78=)
c.66C>A (p.Ile22=)
6g.35805904C>GCA363784546LHFPL5c.234C>G (p.Ile78Met)
c.66C>G (p.Ile22Met)
6g.35805904C>TCA450125317LHFPL5c.234C>T (p.Ile78=)
c.66C>T (p.Ile22=)
6g.35805905T>ACA363784547LHFPL5c.235T>A (p.Cys79Ser)
c.67T>A (p.Cys23Ser)
6g.35805905T>CCA363784548LHFPL5c.235T>C (p.Cys79Arg)
c.67T>C (p.Cys23Arg)
6g.35805905T>GCA363784549LHFPL5c.235T>G (p.Cys79Gly)
c.67T>G (p.Cys23Gly)
6g.35805906G>ACA363784552LHFPL5c.236G>A (p.Cys79Tyr)
c.68G>A (p.Cys23Tyr)
6g.35805906G>CCA363784551LHFPL5c.236G>C (p.Cys79Ser)
c.68G>C (p.Cys23Ser)
6g.35805906G>TCA363784550LHFPL5c.236G>T (p.Cys79Phe)
c.68G>T (p.Cys23Phe)
6g.35805907C>ACA363784553LHFPL5c.237C>A (p.Cys79Ter)
c.69C>A (p.Cys23Ter)
6g.35805907C>GCA363784554LHFPL5c.237C>G (p.Cys79Trp)
c.69C>G (p.Cys23Trp)
6g.35805907C>TCA450125318LHFPL5c.237C>T (p.Cys79=)
c.69C>T (p.Cys23=)
6g.35805908A=CA1621062604LHFPL5c.238A= (p.Lys80=)
c.70A= (p.Lys24=)
6g.35805908A>CCA363784555LHFPL5c.238A>C (p.Lys80Gln)
c.70A>C (p.Lys24Gln)
6g.35805908A>GCA363784557LHFPL5c.238A>G (p.Lys80Glu)
c.70A>G (p.Lys24Glu)
dbSNP
6g.35805908A>TCA363784556LHFPL5c.238A>T (p.Lys80Ter)
c.70A>T (p.Lys24Ter)
6g.35805909A=CA1621062605LHFPL5c.239A= (p.Lys80=)
c.71A= (p.Lys24=)
6g.35805909A>CCA363784558LHFPL5c.239A>C (p.Lys80Thr)
c.71A>C (p.Lys24Thr)
6g.35805909A>GCA363784559LHFPL5c.239A>G (p.Lys80Arg)
c.71A>G (p.Lys24Arg)
dbSNP gnomAD v3 gnomAD v4
6g.35805909A>TCA363784560LHFPL5c.239A>T (p.Lys80Met)
c.71A>T (p.Lys24Met)
6g.35805910G>ACA450125319LHFPL5c.240G>A (p.Lys80=)
c.72G>A (p.Lys24=)
6g.35805910G>CCA363784561LHFPL5c.240G>C (p.Lys80Asn)
c.72G>C (p.Lys24Asn)
gnomAD v4
6g.35805910G>TCA363784562LHFPL5c.240G>T (p.Lys80Asn)
c.72G>T (p.Lys24Asn)
6g.35805911G>ACA363784563LHFPL5c.241G>A (p.Gly81Ser)
c.73G>A (p.Gly25Ser)
6g.35805911G>CCA363784564LHFPL5c.241G>C (p.Gly81Arg)
c.73G>C (p.Gly25Arg)
6g.35805911G>TCA363784565LHFPL5c.241G>T (p.Gly81Cys)
c.73G>T (p.Gly25Cys)
6g.35805912G>ACA363784566LHFPL5c.242G>A (p.Gly81Asp)
c.74G>A (p.Gly25Asp)
COSMIC
6g.35805912G>CCA363784567LHFPL5c.242G>C (p.Gly81Ala)
c.74G>C (p.Gly25Ala)
6g.35805912G>TCA363784568LHFPL5c.242G>T (p.Gly81Val)
c.74G>T (p.Gly25Val)
COSMIC
6g.35805913C>ACA3774362LHFPL5c.243C>A (p.Gly81=)
c.75C>A (p.Gly25=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805913C=CA1621062606LHFPL5c.243C= (p.Gly81=)
c.75C= (p.Gly25=)
6g.35805913C>GCA450125321LHFPL5c.243C>G (p.Gly81=)
c.75C>G (p.Gly25=)
6g.35805913C>TCA450125320LHFPL5c.243C>T (p.Gly81=)
c.75C>T (p.Gly25=)
dbSNP gnomAD v2 gnomAD v4
6g.35805914G>ACA3774363LHFPL5c.244G>A (p.Gly82Ser)
c.76G>A (p.Gly26Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805914G>CCA3774364LHFPL5c.244G>C (p.Gly82Arg)
c.76G>C (p.Gly26Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805914G=CA1621062607LHFPL5c.244G= (p.Gly82=)
c.76G= (p.Gly26=)
6g.35805914G>TCA363784569LHFPL5c.244G>T (p.Gly82Cys)
c.76G>T (p.Gly26Cys)
6g.35805915G>ACA363784570LHFPL5c.245G>A (p.Gly82Asp)
c.77G>A (p.Gly26Asp)
COSMIC
6g.35805915G>CCA363784571LHFPL5c.245G>C (p.Gly82Ala)
c.77G>C (p.Gly26Ala)
gnomAD v4
6g.35805915G=CA1621062609LHFPL5c.245G= (p.Gly82=)
c.77G= (p.Gly26=)
6g.35805915G>TCA363784572LHFPL5c.245G>T (p.Gly82Val)
c.77G>T (p.Gly26Val)
dbSNP gnomAD v4
6g.35805915_35805916delinsGCCA1621062608LHFPL5c.245_246delinsGC (p.Gly82=)
c.77_78delinsGC (p.Gly26=)
6g.35805916C>ACA450125322LHFPL5c.246C>A (p.Gly82=)
c.78C>A (p.Gly26=)
6g.35805916C>GCA450125323LHFPL5c.246C>G (p.Gly82=)
c.78C>G (p.Gly26=)
6g.35805916C>TCA450125324LHFPL5c.246C>T (p.Gly82=)
c.78C>T (p.Gly26=)
gnomAD v4
6g.35805920dupCA2770639085LHFPL5c.250dup (p.Leu84ProfsTer9)
c.82dup (p.Leu28ProfsTer9)
6g.35805920delCA3774365LHFPL5c.250del (p.Leu84Ter)
c.82del (p.Leu28Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805917C>ACA363784573LHFPL5c.247C>A (p.Pro83Thr)
c.79C>A (p.Pro27Thr)
6g.35805917C>GCA363784574LHFPL5c.247C>G (p.Pro83Ala)
c.79C>G (p.Pro27Ala)
6g.35805917C>TCA363784575LHFPL5c.247C>T (p.Pro83Ser)
c.79C>T (p.Pro27Ser)
6g.35805918C>ACA363784576LHFPL5c.248C>A (p.Pro83His)
c.80C>A (p.Pro27His)
6g.35805918C>GCA363784577LHFPL5c.248C>G (p.Pro83Arg)
c.80C>G (p.Pro27Arg)
gnomAD v4
6g.35805918C>TCA363784578LHFPL5c.248C>T (p.Pro83Leu)
c.80C>T (p.Pro27Leu)
ClinVar gnomAD v4
6g.35805919C>ACA450125325LHFPL5c.249C>A (p.Pro83=)
c.81C>A (p.Pro27=)
6g.35805919C=CA1621062610LHFPL5c.249C= (p.Pro83=)
c.81C= (p.Pro27=)
6g.35805919C>GCA450125326LHFPL5c.249C>G (p.Pro83=)
c.81C>G (p.Pro27=)
6g.35805919C>TCA137307545LHFPL5c.249C>T (p.Pro83=)
c.81C>T (p.Pro27=)
dbSNP gnomAD v4 COSMIC
6g.35805920C>ACA363784580LHFPL5c.250C>A (p.Leu84Ile)
c.82C>A (p.Leu28Ile)
6g.35805920C>GCA363784579LHFPL5c.250C>G (p.Leu84Val)
c.82C>G (p.Leu28Val)
6g.35805920C>TCA450125327LHFPL5c.250C>T (p.Leu84=)
c.82C>T (p.Leu28=)
6g.35805921T>ACA363784581LHFPL5c.251T>A (p.Leu84Gln)
c.83T>A (p.Leu28Gln)
6g.35805921T>CCA363784582LHFPL5c.251T>C (p.Leu84Pro)
c.83T>C (p.Leu28Pro)
6g.35805921T>GCA363784583LHFPL5c.251T>G (p.Leu84Arg)
c.83T>G (p.Leu28Arg)
6g.35805922A=CA1621062611LHFPL5c.252A= (p.Leu84=)
c.84A= (p.Leu28=)
6g.35805922A>CCA450125328LHFPL5c.252A>C (p.Leu84=)
c.84A>C (p.Leu28=)
dbSNP gnomAD v3 gnomAD v4
6g.35805922A>GCA450125329LHFPL5c.252A>G (p.Leu84=)
c.84A>G (p.Leu28=)
6g.35805922A>TCA450125330LHFPL5c.252A>T (p.Leu84=)
c.84A>T (p.Leu28=)
6g.35805923delCA2678432739LHFPL5c.253del (p.Asp85ThrfsTer?)
c.85del (p.Asp29ThrfsTer?)
gnomAD v4
6g.35805923G>ACA363784584LHFPL5c.253G>A (p.Asp85Asn)
c.85G>A (p.Asp29Asn)
6g.35805923G>CCA363784585LHFPL5c.253G>C (p.Asp85His)
c.85G>C (p.Asp29His)
6g.35805923G>TCA363784586LHFPL5c.253G>T (p.Asp85Tyr)
c.85G>T (p.Asp29Tyr)
6g.35805924A=CA1621062612LHFPL5c.254A= (p.Asp85=)
c.86A= (p.Asp29=)
6g.35805924A>CCA363784589LHFPL5c.254A>C (p.Asp85Ala)
c.86A>C (p.Asp29Ala)
6g.35805924A>GCA363784587LHFPL5c.254A>G (p.Asp85Gly)
c.86A>G (p.Asp29Gly)
dbSNP gnomAD v3 gnomAD v4
6g.35805924A>TCA363784588LHFPL5c.254A>T (p.Asp85Val)
c.86A>T (p.Asp29Val)
6g.35805925C>ACA363784590LHFPL5c.255C>A (p.Asp85Glu)
c.87C>A (p.Asp29Glu)
6g.35805925C>GCA363784591LHFPL5c.255C>G (p.Asp85Glu)
c.87C>G (p.Asp29Glu)
6g.35805925C>TCA450125331LHFPL5c.255C>T (p.Asp85=)
c.87C>T (p.Asp29=)
gnomAD v4
6g.35805926T>ACA363784592LHFPL5c.256T>A (p.Phe86Ile)
c.88T>A (p.Phe30Ile)
6g.35805926T>CCA363784593LHFPL5c.256T>C (p.Phe86Leu)
c.88T>C (p.Phe30Leu)
6g.35805926T>GCA363784594LHFPL5c.256T>G (p.Phe86Val)
c.88T>G (p.Phe30Val)
6g.35805927T>ACA363784595LHFPL5c.257T>A (p.Phe86Tyr)
c.89T>A (p.Phe30Tyr)
6g.35805927T>CCA363784597LHFPL5c.257T>C (p.Phe86Ser)
c.89T>C (p.Phe30Ser)
COSMIC
6g.35805927T>GCA363784596LHFPL5c.257T>G (p.Phe86Cys)
c.89T>G (p.Phe30Cys)
6g.35805927_35805930delinsTCTCCA1621062613LHFPL5c.257_260delinsTCTC (p.Phe86=)
c.89_92delinsTCTC (p.Phe30=)
6g.35805928C>ACA363784598LHFPL5c.258C>A (p.Phe86Leu)
c.90C>A (p.Phe30Leu)
gnomAD v4
6g.35805928C>GCA363784599LHFPL5c.258C>G (p.Phe86Leu)
c.90C>G (p.Phe30Leu)
6g.35805928C>TCA450125332LHFPL5c.258C>T (p.Phe86=)
c.90C>T (p.Phe30=)
6g.35805928_35805929delinsCTCA1621062614LHFPL5c.258_259delinsCT (p.Phe86=)
c.90_91delinsCT (p.Phe30=)
6g.35805932_35805934delCA3774366LHFPL5c.262_264del (p.Ser88del)
c.94_96del (p.Ser32del)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805929delCA137307549LHFPL5c.259del (p.Ser87ProfsTer?)
c.91del (p.Ser31ProfsTer?)
dbSNP gnomAD v3 gnomAD v4
6g.35805929T>ACA363784600LHFPL5c.259T>A (p.Ser87Thr)
c.91T>A (p.Ser31Thr)
6g.35805929T>CCA363784601LHFPL5c.259T>C (p.Ser87Pro)
c.91T>C (p.Ser31Pro)
gnomAD v4
6g.35805929T>GCA363784602LHFPL5c.259T>G (p.Ser87Ala)
c.91T>G (p.Ser31Ala)
gnomAD v4
6g.35805930C>ACA363784603LHFPL5c.260C>A (p.Ser87Tyr)
c.92C>A (p.Ser31Tyr)
6g.35805930C=CA1621062615LHFPL5c.260C= (p.Ser87=)
c.92C= (p.Ser31=)
6g.35805930C>GCA363784604LHFPL5c.260C>G (p.Ser87Cys)
c.92C>G (p.Ser31Cys)
6g.35805930C>TCA137307550LHFPL5c.260C>T (p.Ser87Phe)
c.92C>T (p.Ser31Phe)
dbSNP gnomAD v4 COSMIC
6g.35805931C>ACA450125333LHFPL5c.261C>A (p.Ser87=)
c.93C>A (p.Ser31=)
6g.35805931C>GCA450125334LHFPL5c.261C>G (p.Ser87=)
c.93C>G (p.Ser31=)
6g.35805931C>TCA450125335LHFPL5c.261C>T (p.Ser87=)
c.93C>T (p.Ser31=)
6g.35805932T>ACA363784605LHFPL5c.262T>A (p.Ser88Thr)
c.94T>A (p.Ser32Thr)
6g.35805932T>CCA363784606LHFPL5c.262T>C (p.Ser88Pro)
c.94T>C (p.Ser32Pro)
6g.35805932T>GCA363784607LHFPL5c.262T>G (p.Ser88Ala)
c.94T>G (p.Ser32Ala)
6g.35805933C>ACA363784608LHFPL5c.263C>A (p.Ser88Tyr)
c.95C>A (p.Ser32Tyr)
6g.35805933C=CA1621062616LHFPL5c.263C= (p.Ser88=)
c.95C= (p.Ser32=)
6g.35805933C>GCA363784609LHFPL5c.263C>G (p.Ser88Cys)
c.95C>G (p.Ser32Cys)
6g.35805933C>TCA3774367LHFPL5c.263C>T (p.Ser88Phe)
c.95C>T (p.Ser32Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805934C>ACA450125336LHFPL5c.264C>A (p.Ser88=)
c.96C>A (p.Ser32=)
COSMIC
6g.35805934C=CA1621062617LHFPL5c.264C= (p.Ser88=)
c.96C= (p.Ser32=)
6g.35805934C>GCA450125338LHFPL5c.264C>G (p.Ser88=)
c.96C>G (p.Ser32=)
6g.35805934C>TCA450125337LHFPL5c.264C>T (p.Ser88=)
c.96C>T (p.Ser32=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.35805935A>CCA363784610LHFPL5c.265A>C (p.Ile89Leu)
c.97A>C (p.Ile33Leu)
6g.35805935A>GCA363784611LHFPL5c.265A>G (p.Ile89Val)
c.97A>G (p.Ile33Val)
6g.35805935A>TCA363784612LHFPL5c.265A>T (p.Ile89Phe)
c.97A>T (p.Ile33Phe)
6g.35805936_35805944dupCA3774368LHFPL5c.266_274dup (p.Ser91_Arg92insIleProSer)
c.98_106dup (p.Ser35_Arg36insIleProSer)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805936T>ACA363784613LHFPL5c.266T>A (p.Ile89Asn)
c.98T>A (p.Ile33Asn)
gnomAD v4
6g.35805936T>CCA363784614LHFPL5c.266T>C (p.Ile89Thr)
c.98T>C (p.Ile33Thr)
dbSNP gnomAD v4
6g.35805936T>GCA363784615LHFPL5c.266T>G (p.Ile89Ser)
c.98T>G (p.Ile33Ser)
6g.35805936T=CA1621062618LHFPL5c.266T= (p.Ile89=)
c.98T= (p.Ile33=)
6g.35805937C>ACA450125339LHFPL5c.267C>A (p.Ile89=)
c.99C>A (p.Ile33=)
gnomAD v4
6g.35805937C=CA1621062619LHFPL5c.267C= (p.Ile89=)
c.99C= (p.Ile33=)
6g.35805937C>GCA363784616LHFPL5c.267C>G (p.Ile89Met)
c.99C>G (p.Ile33Met)
dbSNP
6g.35805937C>TCA450125340LHFPL5c.267C>T (p.Ile89=)
c.99C>T (p.Ile33=)
6g.35805938C>ACA363784617LHFPL5c.268C>A (p.Pro90Thr)
c.100C>A (p.Pro34Thr)
6g.35805938C>GCA363784618LHFPL5c.268C>G (p.Pro90Ala)
c.100C>G (p.Pro34Ala)
6g.35805938C>TCA363784619LHFPL5c.268C>T (p.Pro90Ser)
c.100C>T (p.Pro34Ser)
gnomAD v4 COSMIC
6g.35805939C>ACA363784620LHFPL5c.269C>A (p.Pro90His)
c.101C>A (p.Pro34His)
6g.35805939C=CA1621062620LHFPL5c.269C= (p.Pro90=)
c.101C= (p.Pro34=)
6g.35805939C>GCA363784621LHFPL5c.269C>G (p.Pro90Arg)
c.101C>G (p.Pro34Arg)
gnomAD v4
6g.35805939C>TCA137307556LHFPL5c.269C>T (p.Pro90Leu)
c.101C>T (p.Pro34Leu)
dbSNP gnomAD v4
6g.35805940C>ACA3774369LHFPL5c.270C>A (p.Pro90=)
c.102C>A (p.Pro34=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805940C=CA1621062621LHFPL5c.270C= (p.Pro90=)
c.102C= (p.Pro34=)
6g.35805940C>GCA450125341LHFPL5c.270C>G (p.Pro90=)
c.102C>G (p.Pro34=)
6g.35805940C>TCA450125342LHFPL5c.270C>T (p.Pro90=)
c.102C>T (p.Pro34=)
6g.35805941T>ACA363784625LHFPL5c.271T>A (p.Ser91Thr)
c.103T>A (p.Ser35Thr)
6g.35805941T>CCA363784627LHFPL5c.271T>C (p.Ser91Pro)
c.103T>C (p.Ser35Pro)
6g.35805941T>GCA363784629LHFPL5c.271T>G (p.Ser91Ala)
c.103T>G (p.Ser35Ala)
6g.35805942C>ACA363784631LHFPL5c.272C>A (p.Ser91Tyr)
c.104C>A (p.Ser35Tyr)
6g.35805942C>GCA363784634LHFPL5c.272C>G (p.Ser91Cys)
c.104C>G (p.Ser35Cys)
6g.35805942C>TCA363784636LHFPL5c.272C>T (p.Ser91Phe)
c.104C>T (p.Ser35Phe)
gnomAD v4 COSMIC
6g.35805943T>ACA450125343LHFPL5c.273T>A (p.Ser91=)
c.105T>A (p.Ser35=)
6g.35805943T>CCA450125344LHFPL5c.273T>C (p.Ser91=)
c.105T>C (p.Ser35=)
6g.35805943T>GCA450125345LHFPL5c.273T>G (p.Ser91=)
c.105T>G (p.Ser35=)
dbSNP
6g.35805943T=CA1621062622LHFPL5c.273T= (p.Ser91=)
c.105T= (p.Ser35=)
6g.35805944A>CCA450125346LHFPL5c.274A>C (p.Arg92=)
c.106A>C (p.Arg36=)
6g.35805944A>GCA363784638LHFPL5c.274A>G (p.Arg92Gly)
c.106A>G (p.Arg36Gly)
6g.35805944A>TCA363784640LHFPL5c.274A>T (p.Arg92Ter)
c.106A>T (p.Arg36Ter)
6g.35805945G>ACA363784642LHFPL5c.275G>A (p.Arg92Lys)
c.107G>A (p.Arg36Lys)
gnomAD v4
6g.35805945G>CCA363784648LHFPL5c.275G>C (p.Arg92Thr)
c.107G>C (p.Arg36Thr)
gnomAD v4
6g.35805945G>TCA363784650LHFPL5c.275G>T (p.Arg92Ile)
c.107G>T (p.Arg36Ile)
COSMIC
6g.35805946A>CCA363784653LHFPL5c.276A>C (p.Arg92Ser)
c.108A>C (p.Arg36Ser)
6g.35805946A>GCA450125347LHFPL5c.276A>G (p.Arg92=)
c.108A>G (p.Arg36=)
6g.35805946A>TCA363784654LHFPL5c.276A>T (p.Arg92Ser)
c.108A>T (p.Arg36Ser)
dbSNP
6g.35805947G>ACA363784660LHFPL5c.277G>A (p.Ala93Thr)
c.109G>A (p.Ala37Thr)
6g.35805947G>CCA363784662LHFPL5c.277G>C (p.Ala93Pro)
c.109G>C (p.Ala37Pro)
6g.35805947G>TCA363784658LHFPL5c.277G>T (p.Ala93Ser)
c.109G>T (p.Ala37Ser)
6g.35805948C>ACA363784664LHFPL5c.278C>A (p.Ala93Asp)
c.110C>A (p.Ala37Asp)
6g.35805948C>GCA363784666LHFPL5c.278C>G (p.Ala93Gly)
c.110C>G (p.Ala37Gly)
6g.35805948C>TCA363784668LHFPL5c.278C>T (p.Ala93Val)
c.110C>T (p.Ala37Val)
6g.35805949C>ACA450125349LHFPL5c.279C>A (p.Ala93=)
c.111C>A (p.Ala37=)
6g.35805949C>GCA450125350LHFPL5c.279C>G (p.Ala93=)
c.111C>G (p.Ala37=)
6g.35805949C>TCA450125348LHFPL5c.279C>T (p.Ala93=)
c.111C>T (p.Ala37=)
COSMIC
6g.35805950T>ACA363784671LHFPL5c.280T>A (p.Phe94Ile)
c.112T>A (p.Phe38Ile)
6g.35805950T>CCA363784673LHFPL5c.280T>C (p.Phe94Leu)
c.112T>C (p.Phe38Leu)
6g.35805950T>GCA363784675LHFPL5c.280T>G (p.Phe94Val)
c.112T>G (p.Phe38Val)
6g.35805951T>ACA363784677LHFPL5c.281T>A (p.Phe94Tyr)
c.113T>A (p.Phe38Tyr)
6g.35805951T>CCA363784679LHFPL5c.281T>C (p.Phe94Ser)
c.113T>C (p.Phe38Ser)
6g.35805951T>GCA363784681LHFPL5c.281T>G (p.Phe94Cys)
c.113T>G (p.Phe38Cys)
6g.35805952C>ACA363784684LHFPL5c.282C>A (p.Phe94Leu)
c.114C>A (p.Phe38Leu)
gnomAD v4
6g.35805952C>GCA363784686LHFPL5c.282C>G (p.Phe94Leu)
c.114C>G (p.Phe38Leu)
COSMIC
6g.35805952C>TCA450125351LHFPL5c.282C>T (p.Phe94=)
c.114C>T (p.Phe38=)
6g.35805953A=CA1621062623LHFPL5c.283A= (p.Lys95=)
c.115A= (p.Lys39=)
6g.35805953A>CCA363784689LHFPL5c.283A>C (p.Lys95Gln)
c.115A>C (p.Lys39Gln)
6g.35805953A>GCA363784691LHFPL5c.283A>G (p.Lys95Glu)
c.115A>G (p.Lys39Glu)
dbSNP gnomAD v4
6g.35805953A>TCA363784693LHFPL5c.283A>T (p.Lys95Ter)
c.115A>T (p.Lys39Ter)
6g.35805954A=CA1621062624LHFPL5c.284A= (p.Lys95=)
c.116A= (p.Lys39=)
6g.35805954A>CCA363784700LHFPL5c.284A>C (p.Lys95Thr)
c.116A>C (p.Lys39Thr)
6g.35805954A>GCA363784698LHFPL5c.284A>G (p.Lys95Arg)
c.116A>G (p.Lys39Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35805954A>TCA363784696LHFPL5c.284A>T (p.Lys95Met)
c.116A>T (p.Lys39Met)
6g.35805955G>ACA450125352LHFPL5c.285G>A (p.Lys95=)
c.117G>A (p.Lys39=)
6g.35805955G>CCA363784702LHFPL5c.285G>C (p.Lys95Asn)
c.117G>C (p.Lys39Asn)
6g.35805955G>TCA363784704LHFPL5c.285G>T (p.Lys95Asn)
c.117G>T (p.Lys39Asn)
6g.35805956A=CA1621062625LHFPL5c.286A= (p.Thr96=)
c.118A= (p.Thr40=)
6g.35805956A>CCA363784705LHFPL5c.286A>C (p.Thr96Pro)
c.118A>C (p.Thr40Pro)
6g.35805956A>GCA363784707LHFPL5c.286A>G (p.Thr96Ala)
c.118A>G (p.Thr40Ala)
dbSNP
6g.35805956A>TCA363784709LHFPL5c.286A>T (p.Thr96Ser)
c.118A>T (p.Thr40Ser)
6g.35805957C>ACA363784711LHFPL5c.287C>A (p.Thr96Asn)
c.119C>A (p.Thr40Asn)
6g.35805957C=CA1621062626LHFPL5c.287C= (p.Thr96=)
c.119C= (p.Thr40=)
6g.35805957C>GCA363784713LHFPL5c.287C>G (p.Thr96Ser)
c.119C>G (p.Thr40Ser)
dbSNP gnomAD v3 gnomAD v4
6g.35805957C>TCA363784715LHFPL5c.287C>T (p.Thr96Ile)
c.119C>T (p.Thr40Ile)
gnomAD v4
6g.35805958T>ACA450125353LHFPL5c.288T>A (p.Thr96=)
c.120T>A (p.Thr40=)
6g.35805958T>CCA450125354LHFPL5c.288T>C (p.Thr96=)
c.120T>C (p.Thr40=)
6g.35805958T>GCA450125355LHFPL5c.288T>G (p.Thr96=)
c.120T>G (p.Thr40=)
6g.35805959G>ACA363784718LHFPL5c.289G>A (p.Ala97Thr)
c.121G>A (p.Ala41Thr)
6g.35805959G>CCA363784720LHFPL5c.289G>C (p.Ala97Pro)
c.121G>C (p.Ala41Pro)
6g.35805959G=CA1621062627LHFPL5c.289G= (p.Ala97=)
c.121G= (p.Ala41=)
6g.35805959G>TCA3774370LHFPL5c.289G>T (p.Ala97Ser)
c.121G>T (p.Ala41Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805960C>ACA3774371LHFPL5c.290C>A (p.Ala97Asp)
c.122C>A (p.Ala41Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805960C=CA1621062628LHFPL5c.290C= (p.Ala97=)
c.122C= (p.Ala41=)
6g.35805960C>GCA363784724LHFPL5c.290C>G (p.Ala97Gly)
c.122C>G (p.Ala41Gly)
6g.35805960C>TCA363784727LHFPL5c.290C>T (p.Ala97Val)
c.122C>T (p.Ala41Val)
6g.35805961C>ACA450125358LHFPL5c.291C>A (p.Ala97=)
c.123C>A (p.Ala41=)
6g.35805961C>GCA450125356LHFPL5c.291C>G (p.Ala97=)
c.123C>G (p.Ala41=)
6g.35805961C>TCA450125357LHFPL5c.291C>T (p.Ala97=)
c.123C>T (p.Ala41=)
6g.35805962A>CCA363784732LHFPL5c.292A>C (p.Met98Leu)
c.124A>C (p.Met42Leu)
6g.35805962A>GCA363784733LHFPL5c.292A>G (p.Met98Val)
c.124A>G (p.Met42Val)
6g.35805962A>TCA363784730LHFPL5c.292A>T (p.Met98Leu)
c.124A>T (p.Met42Leu)
6g.35805963T>ACA363784737LHFPL5c.293T>A (p.Met98Lys)
c.125T>A (p.Met42Lys)
6g.35805963T>CCA363784736LHFPL5c.293T>C (p.Met98Thr)
c.125T>C (p.Met42Thr)
6g.35805963T>GCA363784739LHFPL5c.293T>G (p.Met98Arg)
c.125T>G (p.Met42Arg)
6g.35805964G>ACA363784741LHFPL5c.294G>A (p.Met98Ile)
c.126G>A (p.Met42Ile)
6g.35805964G>CCA363784743LHFPL5c.294G>C (p.Met98Ile)
c.126G>C (p.Met42Ile)
6g.35805964G>TCA363784742LHFPL5c.294G>T (p.Met98Ile)
c.126G>T (p.Met42Ile)
6g.35805965T>ACA363784745LHFPL5c.295T>A (p.Phe99Ile)
c.127T>A (p.Phe43Ile)
6g.35805965T>CCA363784749LHFPL5c.295T>C (p.Phe99Leu)
c.127T>C (p.Phe43Leu)
dbSNP gnomAD v3 gnomAD v4
6g.35805965T>GCA363784747LHFPL5c.295T>G (p.Phe99Val)
c.127T>G (p.Phe43Val)
6g.35805965T=CA1621062629LHFPL5c.295T= (p.Phe99=)
c.127T= (p.Phe43=)
6g.35805966T>ACA363784752LHFPL5c.296T>A (p.Phe99Tyr)
c.128T>A (p.Phe43Tyr)
6g.35805966T>CCA363784753LHFPL5c.296T>C (p.Phe99Ser)
c.128T>C (p.Phe43Ser)
dbSNP
6g.35805966T>GCA363784755LHFPL5c.296T>G (p.Phe99Cys)
c.128T>G (p.Phe43Cys)
6g.35805966T=CA1621062630LHFPL5c.296T= (p.Phe99=)
c.128T= (p.Phe43=)
6g.35805967C>ACA363784758LHFPL5c.297C>A (p.Phe99Leu)
c.129C>A (p.Phe43Leu)
gnomAD v4
6g.35805967C>GCA363784759LHFPL5c.297C>G (p.Phe99Leu)
c.129C>G (p.Phe43Leu)
6g.35805967C>TCA450125359LHFPL5c.297C>T (p.Phe99=)
c.129C>T (p.Phe43=)
dbSNP gnomAD v4 COSMIC
6g.35805968T>ACA363784762LHFPL5c.298T>A (p.Phe100Ile)
c.130T>A (p.Phe44Ile)
6g.35805968T>CCA363784764LHFPL5c.298T>C (p.Phe100Leu)
c.130T>C (p.Phe44Leu)
6g.35805968T>GCA363784766LHFPL5c.298T>G (p.Phe100Val)
c.130T>G (p.Phe44Val)
6g.35805969_35805970delCA2678432740LHFPL5c.299_300del (p.Phe100CysfsTer28)
c.131_132del (p.Phe44CysfsTer28)
gnomAD v4
6g.35805969T>ACA363784768LHFPL5c.299T>A (p.Phe100Tyr)
c.131T>A (p.Phe44Tyr)
6g.35805969T>CCA363784770LHFPL5c.299T>C (p.Phe100Ser)
c.131T>C (p.Phe44Ser)
6g.35805969T>GCA363784773LHFPL5c.299T>G (p.Phe100Cys)
c.131T>G (p.Phe44Cys)
6g.35805970T>ACA363784775LHFPL5c.300T>A (p.Phe100Leu)
c.132T>A (p.Phe44Leu)
6g.35805970T>CCA450125360LHFPL5c.300T>C (p.Phe100=)
c.132T>C (p.Phe44=)
gnomAD v4
6g.35805970T>GCA363784777LHFPL5c.300T>G (p.Phe100Leu)
c.132T>G (p.Phe44Leu)
6g.35805971G>ACA363784779LHFPL5c.301G>A (p.Val101Met)
c.133G>A (p.Val45Met)
6g.35805971G>CCA363784782LHFPL5c.301G>C (p.Val101Leu)
c.133G>C (p.Val45Leu)
6g.35805971G>TCA363784780LHFPL5c.301G>T (p.Val101Leu)
c.133G>T (p.Val45Leu)
6g.35805972T>ACA363784783LHFPL5c.302T>A (p.Val101Glu)
c.134T>A (p.Val45Glu)
6g.35805972T>CCA363784784LHFPL5c.302T>C (p.Val101Ala)
c.134T>C (p.Val45Ala)
6g.35805972T>GCA363784787LHFPL5c.302T>G (p.Val101Gly)
c.134T>G (p.Val45Gly)
6g.35805973G>ACA450125361LHFPL5c.303G>A (p.Val101=)
c.135G>A (p.Val45=)
dbSNP gnomAD v2 gnomAD v4
6g.35805973G>CCA450125362LHFPL5c.303G>C (p.Val101=)
c.135G>C (p.Val45=)
6g.35805973G=CA1621062631LHFPL5c.303G= (p.Val101=)
c.135G= (p.Val45=)
6g.35805973G>TCA450125363LHFPL5c.303G>T (p.Val101=)
c.135G>T (p.Val45=)
6g.35805974G>ACA363784789LHFPL5c.304G>A (p.Ala102Thr)
c.136G>A (p.Ala46Thr)
dbSNP gnomAD v3 gnomAD v4
6g.35805974G>CCA363784791LHFPL5c.304G>C (p.Ala102Pro)
c.136G>C (p.Ala46Pro)
6g.35805974G=CA1621062632LHFPL5c.304G= (p.Ala102=)
c.136G= (p.Ala46=)
6g.35805974G>TCA363784793LHFPL5c.304G>T (p.Ala102Ser)
c.136G>T (p.Ala46Ser)
6g.35805975C>ACA363784796LHFPL5c.305C>A (p.Ala102Asp)
c.137C>A (p.Ala46Asp)
gnomAD v4
6g.35805975C>GCA363784798LHFPL5c.305C>G (p.Ala102Gly)
c.137C>G (p.Ala46Gly)
6g.35805975C>TCA363784800LHFPL5c.305C>T (p.Ala102Val)
c.137C>T (p.Ala46Val)
6g.35805976C>ACA450125364LHFPL5c.306C>A (p.Ala102=)
c.138C>A (p.Ala46=)
6g.35805976C=CA1621062633LHFPL5c.306C= (p.Ala102=)
c.138C= (p.Ala46=)
6g.35805976C>GCA450125365LHFPL5c.306C>G (p.Ala102=)
c.138C>G (p.Ala46=)
6g.35805976C>TCA3774372LHFPL5c.306C>T (p.Ala102=)
c.138C>T (p.Ala46=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805977T>ACA363784807LHFPL5c.307T>A (p.Leu103Met)
c.139T>A (p.Leu47Met)
6g.35805977T>CCA3774373LHFPL5c.307T>C (p.Leu103=)
c.139T>C (p.Leu47=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805977T>GCA363784804LHFPL5c.307T>G (p.Leu103Val)
c.139T>G (p.Leu47Val)
6g.35805977T=CA1621062634LHFPL5c.307T= (p.Leu103=)
c.139T= (p.Leu47=)
6g.35805978T>ACA363784813LHFPL5c.308T>A (p.Leu103Ter)
c.140T>A (p.Leu47Ter)
6g.35805978T>CCA363784808LHFPL5c.308T>C (p.Leu103Ser)
c.140T>C (p.Leu47Ser)
6g.35805978T>GCA363784810LHFPL5c.308T>G (p.Leu103Trp)
c.140T>G (p.Leu47Trp)
6g.35805979G>ACA450125367LHFPL5c.309G>A (p.Leu103=)
c.141G>A (p.Leu47=)
dbSNP gnomAD v4
6g.35805979G>CCA363784819LHFPL5c.309G>C (p.Leu103Phe)
c.141G>C (p.Leu47Phe)
6g.35805979G=CA1621062635LHFPL5c.309G= (p.Leu103=)
c.141G= (p.Leu47=)
6g.35805979G>TCA363784821LHFPL5c.309G>T (p.Leu103Phe)
c.141G>T (p.Leu47Phe)
6g.35805980G>ACA363784822LHFPL5c.310G>A (p.Gly104Ser)
c.142G>A (p.Gly48Ser)
6g.35805980G>CCA363784823LHFPL5c.310G>C (p.Gly104Arg)
c.142G>C (p.Gly48Arg)
6g.35805980G>TCA363784824LHFPL5c.310G>T (p.Gly104Cys)
c.142G>T (p.Gly48Cys)
6g.35805981G>ACA363784825LHFPL5c.311G>A (p.Gly104Asp)
c.143G>A (p.Gly48Asp)
gnomAD v4
6g.35805981G>CCA363784826LHFPL5c.311G>C (p.Gly104Ala)
c.143G>C (p.Gly48Ala)
6g.35805981G>TCA363784827LHFPL5c.311G>T (p.Gly104Val)
c.143G>T (p.Gly48Val)
6g.35805982C>ACA450125371LHFPL5c.312C>A (p.Gly104=)
c.144C>A (p.Gly48=)
6g.35805982C>GCA450125372LHFPL5c.312C>G (p.Gly104=)
c.144C>G (p.Gly48=)
6g.35805982C>TCA450125373LHFPL5c.312C>T (p.Gly104=)
c.144C>T (p.Gly48=)
6g.35805983A=CA1621062636LHFPL5c.313A= (p.Met105=)
c.145A= (p.Met49=)
6g.35805983A>CCA363784828LHFPL5c.313A>C (p.Met105Leu)
c.145A>C (p.Met49Leu)
6g.35805983A>GCA363784829LHFPL5c.313A>G (p.Met105Val)
c.145A>G (p.Met49Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35805983A>TCA363784830LHFPL5c.313A>T (p.Met105Leu)
c.145A>T (p.Met49Leu)
gnomAD v4
6g.35805984T>ACA363784832LHFPL5c.314T>A (p.Met105Lys)
c.146T>A (p.Met49Lys)
6g.35805984T>CCA3774374LHFPL5c.314T>C (p.Met105Thr)
c.146T>C (p.Met49Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805984T>GCA363784831LHFPL5c.314T>G (p.Met105Arg)
c.146T>G (p.Met49Arg)
6g.35805984T=CA1621062637LHFPL5c.314T= (p.Met105=)
c.146T= (p.Met49=)
6g.35805985G>ACA137307576LHFPL5c.315G>A (p.Met105Ile)
c.147G>A (p.Met49Ile)
dbSNP gnomAD v2 gnomAD v4
6g.35805985G>CCA363784833LHFPL5c.315G>C (p.Met105Ile)
c.147G>C (p.Met49Ile)
6g.35805985G=CA1621062638LHFPL5c.315G= (p.Met105=)
c.147G= (p.Met49=)
6g.35805985G>TCA363784834LHFPL5c.315G>T (p.Met105Ile)
c.147G>T (p.Met49Ile)
6g.35805986T>ACA363784835LHFPL5c.316T>A (p.Phe106Ile)
c.148T>A (p.Phe50Ile)
6g.35805986T>CCA363784836LHFPL5c.316T>C (p.Phe106Leu)
c.148T>C (p.Phe50Leu)
6g.35805986T>GCA363784837LHFPL5c.316T>G (p.Phe106Val)
c.148T>G (p.Phe50Val)
6g.35805987T>ACA363784838LHFPL5c.317T>A (p.Phe106Tyr)
c.149T>A (p.Phe50Tyr)
6g.35805987T>CCA363784839LHFPL5c.317T>C (p.Phe106Ser)
c.149T>C (p.Phe50Ser)
6g.35805987T>GCA363784841LHFPL5c.317T>G (p.Phe106Cys)
c.149T>G (p.Phe50Cys)
6g.35805988C>ACA363784844LHFPL5c.318C>A (p.Phe106Leu)
c.150C>A (p.Phe50Leu)
6g.35805988C=CA1621062639LHFPL5c.318C= (p.Phe106=)
c.150C= (p.Phe50=)
6g.35805988C>GCA363784846LHFPL5c.318C>G (p.Phe106Leu)
c.150C>G (p.Phe50Leu)
6g.35805988C>TCA3774375LHFPL5c.318C>T (p.Phe106=)
c.150C>T (p.Phe50=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805989C>ACA363784851LHFPL5c.319C>A (p.Leu107Ile)
c.151C>A (p.Leu51Ile)
6g.35805989C>GCA363784854LHFPL5c.319C>G (p.Leu107Val)
c.151C>G (p.Leu51Val)
6g.35805989C>TCA363784849LHFPL5c.319C>T (p.Leu107Phe)
c.151C>T (p.Leu51Phe)
6g.35805990T>ACA363784857LHFPL5c.320T>A (p.Leu107His)
c.152T>A (p.Leu51His)
6g.35805990T>CCA363784860LHFPL5c.320T>C (p.Leu107Pro)
c.152T>C (p.Leu51Pro)
6g.35805990T>GCA363784859LHFPL5c.320T>G (p.Leu107Arg)
c.152T>G (p.Leu51Arg)
6g.35805991C>ACA450125376LHFPL5c.321C>A (p.Leu107=)
c.153C>A (p.Leu51=)
6g.35805991C=CA1621062640LHFPL5c.321C= (p.Leu107=)
c.153C= (p.Leu51=)
6g.35805991C>GCA450125377LHFPL5c.321C>G (p.Leu107=)
c.153C>G (p.Leu51=)
6g.35805991C>TCA3774376LHFPL5c.321C>T (p.Leu107=)
c.153C>T (p.Leu51=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805992A=CA1621062641LHFPL5c.322A= (p.Ile108=)
c.154A= (p.Ile52=)
6g.35805992A>CCA363784864LHFPL5c.322A>C (p.Ile108Leu)
c.154A>C (p.Ile52Leu)
gnomAD v4
6g.35805992A>GCA363784866LHFPL5c.322A>G (p.Ile108Val)
c.154A>G (p.Ile52Val)
dbSNP
6g.35805992A>TCA363784868LHFPL5c.322A>T (p.Ile108Phe)
c.154A>T (p.Ile52Phe)
6g.35805993T>ACA363784870LHFPL5c.323T>A (p.Ile108Asn)
c.155T>A (p.Ile52Asn)
6g.35805993T>CCA363784872LHFPL5c.323T>C (p.Ile108Thr)
c.155T>C (p.Ile52Thr)
dbSNP
6g.35805993T>GCA363784874LHFPL5c.323T>G (p.Ile108Ser)
c.155T>G (p.Ile52Ser)
6g.35805993T=CA1621062642LHFPL5c.323T= (p.Ile108=)
c.155T= (p.Ile52=)
6g.35805994C>ACA450125379LHFPL5c.324C>A (p.Ile108=)
c.156C>A (p.Ile52=)
6g.35805994C=CA1621062643LHFPL5c.324C= (p.Ile108=)
c.156C= (p.Ile52=)
6g.35805994C>GCA363784876LHFPL5c.324C>G (p.Ile108Met)
c.156C>G (p.Ile52Met)
dbSNP gnomAD v4
6g.35805994C>TCA450125380LHFPL5c.324C>T (p.Ile108=)
c.156C>T (p.Ile52=)
6g.35805995A>CCA363784879LHFPL5c.325A>C (p.Ile109Leu)
c.157A>C (p.Ile53Leu)
6g.35805995A>GCA363784881LHFPL5c.325A>G (p.Ile109Val)
c.157A>G (p.Ile53Val)
gnomAD v4
6g.35805995A>TCA363784883LHFPL5c.325A>T (p.Ile109Phe)
c.157A>T (p.Ile53Phe)
6g.35805996T>ACA363784888LHFPL5c.326T>A (p.Ile109Asn)
c.158T>A (p.Ile53Asn)
6g.35805996T>CCA3774377LHFPL5c.326T>C (p.Ile109Thr)
c.158T>C (p.Ile53Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.35805996T>GCA363784886LHFPL5c.326T>G (p.Ile109Ser)
c.158T>G (p.Ile53Ser)
6g.35805996T=CA1621062644LHFPL5c.326T= (p.Ile109=)
c.158T= (p.Ile53=)
6g.35805997T>ACA450125384LHFPL5c.327T>A (p.Ile109=)
c.159T>A (p.Ile53=)
6g.35805997T>CCA450125385LHFPL5c.327T>C (p.Ile109=)
c.159T>C (p.Ile53=)
6g.35805997T>GCA3774378LHFPL5c.327T>G (p.Ile109Met)
c.159T>G (p.Ile53Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35805997T=CA1621062645LHFPL5c.327T= (p.Ile109=)
c.159T= (p.Ile53=)
6g.35805998G>ACA363784892LHFPL5c.328G>A (p.Gly110Ser)
c.160G>A (p.Gly54Ser)
6g.35805998G>CCA363784894LHFPL5c.328G>C (p.Gly110Arg)
c.160G>C (p.Gly54Arg)
6g.35805998G>TCA363784895LHFPL5c.328G>T (p.Gly110Cys)
c.160G>T (p.Gly54Cys)
6g.35805999G>ACA363784898LHFPL5c.329G>A (p.Gly110Asp)
c.161G>A (p.Gly54Asp)
dbSNP
6g.35805999G>CCA363784899LHFPL5c.329G>C (p.Gly110Ala)
c.161G>C (p.Gly54Ala)
6g.35805999G=CA1621062646LHFPL5c.329G= (p.Gly110=)
c.161G= (p.Gly54=)
6g.35805999G>TCA363784901LHFPL5c.329G>T (p.Gly110Val)
c.161G>T (p.Gly54Val)
6g.35806000C>ACA450125389LHFPL5c.330C>A (p.Gly110=)
c.162C>A (p.Gly54=)
6g.35806000C>GCA450125391LHFPL5c.330C>G (p.Gly110=)
c.162C>G (p.Gly54=)
6g.35806000C>TCA450125390LHFPL5c.330C>T (p.Gly110=)
c.162C>T (p.Gly54=)
6g.35806001T>ACA363784903LHFPL5c.331T>A (p.Ser111Thr)
c.163T>A (p.Ser55Thr)
6g.35806001T>CCA363784904LHFPL5c.331T>C (p.Ser111Pro)
c.163T>C (p.Ser55Pro)
6g.35806001T>GCA363784907LHFPL5c.331T>G (p.Ser111Ala)
c.163T>G (p.Ser55Ala)
gnomAD v4

Number of alleles fetched