Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.54495170G>ACA413254476FGD1c.263C>T (p.Ala88Val)
gnomAD v4
Xg.54495170G>CCA413254477FGD1c.263C>G (p.Ala88Gly)
Xg.54495170G>TCA413254478FGD1c.263C>A (p.Ala88Asp)
gnomAD v4
Xg.54495171C>ACA413254479FGD1c.262G>T (p.Ala88Ser)
gnomAD v4
Xg.54495171C>GCA413254480FGD1c.262G>C (p.Ala88Pro)
Xg.54495171C>TCA413254481FGD1c.262G>A (p.Ala88Thr)
gnomAD v4
Xg.54495172C>ACA516574668FGD1c.261G>T (p.Arg87=)
gnomAD v4
Xg.54495172C>GCA516574670FGD1c.261G>C (p.Arg87=)
Xg.54495172C>TCA516574669FGD1c.261G>A (p.Arg87=)
Xg.54495173C>ACA413254482FGD1c.260G>T (p.Arg87Leu)
gnomAD v4
Xg.54495173C=CA2430198360FGD1c.260G= (p.Arg87=)
Xg.54495173C>GCA328946580FGD1c.260G>C (p.Arg87Pro)
dbSNP gnomAD v3 gnomAD v4
Xg.54495173C>TCA413254483FGD1c.260G>A (p.Arg87Gln)
dbSNP gnomAD v4
Xg.54495174G>ACA413254484FGD1c.259C>T (p.Arg87Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.54495174G>CCA413254485FGD1c.259C>G (p.Arg87Gly)
dbSNP gnomAD v2 gnomAD v4
Xg.54495174G=CA2430198361FGD1c.259C= (p.Arg87=)
Xg.54495174G>TCA516574671FGD1c.259C>A (p.Arg87=)
gnomAD v4
Xg.54495175G>ACA516574672FGD1c.258C>T (p.His86=)
gnomAD v4
Xg.54495175G>CCA413254486FGD1c.258C>G (p.His86Gln)
Xg.54495175G>TCA413254487FGD1c.258C>A (p.His86Gln)
gnomAD v4
Xg.54495176T>ACA413254488FGD1c.257A>T (p.His86Leu)
Xg.54495176T>CCA413254489FGD1c.257A>G (p.His86Arg)
gnomAD v4
Xg.54495176T>GCA413254490FGD1c.257A>C (p.His86Pro)
Xg.54495177G>ACA413254491FGD1c.256C>T (p.His86Tyr)
dbSNP gnomAD v3 gnomAD v4
Xg.54495177G>CCA413254492FGD1c.256C>G (p.His86Asp)
gnomAD v4
Xg.54495177G=CA2430198362FGD1c.256C= (p.His86=)
Xg.54495177G>TCA413254493FGD1c.256C>A (p.His86Asn)
gnomAD v4
Xg.54495178G>ACA516574673FGD1c.255C>T (p.His85=)
dbSNP gnomAD v3 gnomAD v4
Xg.54495178G>CCA413254494FGD1c.255C>G (p.His85Gln)
Xg.54495178G=CA2430198363FGD1c.255C= (p.His85=)
Xg.54495178G>TCA413254495FGD1c.255C>A (p.His85Gln)
gnomAD v4
Xg.54495179T>ACA413254496FGD1c.254A>T (p.His85Leu)
gnomAD v4
Xg.54495179T>CCA413254497FGD1c.254A>G (p.His85Arg)
Xg.54495179T>GCA413254498FGD1c.254A>C (p.His85Pro)
Xg.54495180G>ACA413254500FGD1c.253C>T (p.His85Tyr)
gnomAD v4
Xg.54495180G>CCA413254501FGD1c.253C>G (p.His85Asp)
Xg.54495180G>TCA413254499FGD1c.253C>A (p.His85Asn)
gnomAD v4
Xg.54495181C>ACA413254503FGD1c.252G>T (p.Gln84His)
Xg.54495181C=CA2430198364FGD1c.252G= (p.Gln84=)
Xg.54495181C>GCA413254502FGD1c.252G>C (p.Gln84His)
Xg.54495181C>TCA516574674FGD1c.252G>A (p.Gln84=)
dbSNP gnomAD v2 gnomAD v4
Xg.54495182T>ACA413254504FGD1c.251A>T (p.Gln84Leu)
Xg.54495182T>CCA10425298FGD1c.251A>G (p.Gln84Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54495182T>GCA413254505FGD1c.251A>C (p.Gln84Pro)
Xg.54495182T=CA2430198365FGD1c.251A= (p.Gln84=)
Xg.54495183G>ACA413254506FGD1c.250C>T (p.Gln84Ter)
gnomAD v4
Xg.54495183G>CCA413254507FGD1c.250C>G (p.Gln84Glu)
ClinVar
Xg.54495183G>TCA413254508FGD1c.250C>A (p.Gln84Lys)
gnomAD v4
Xg.54495184T>ACA516574675FGD1c.249A>T (p.Pro83=)
Xg.54495184T>CCA516574676FGD1c.249A>G (p.Pro83=)
Xg.54495184T>GCA516574677FGD1c.249A>C (p.Pro83=)
Xg.54495185G>ACA413254509FGD1c.248C>T (p.Pro83Leu)
gnomAD v4
Xg.54495185G>CCA413254510FGD1c.248C>G (p.Pro83Arg)
Xg.54495185G>TCA413254511FGD1c.248C>A (p.Pro83Gln)
gnomAD v4
Xg.54495186G>ACA413254512FGD1c.247C>T (p.Pro83Ser)
Xg.54495186G>CCA413254513FGD1c.247C>G (p.Pro83Ala)
Xg.54495186G>TCA413254514FGD1c.247C>A (p.Pro83Thr)
gnomAD v4
Xg.54495187A>CCA413254515FGD1c.246T>G (p.Ser82Arg)
Xg.54495187A>GCA516574678FGD1c.246T>C (p.Ser82=)
Xg.54495187A>TCA413254516FGD1c.246T>A (p.Ser82Arg)
Xg.54495188C>ACA413254517FGD1c.245G>T (p.Ser82Ile)
gnomAD v4
Xg.54495188C=CA2430198366FGD1c.245G= (p.Ser82=)
Xg.54495188C>GCA413254518FGD1c.245G>C (p.Ser82Thr)
Xg.54495188C>TCA328946584FGD1c.245G>A (p.Ser82Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.54495189T>ACA413254519FGD1c.244A>T (p.Ser82Cys)
gnomAD v4
Xg.54495189T>CCA413254520FGD1c.244A>G (p.Ser82Gly)
gnomAD v4
Xg.54495189T>GCA413254521FGD1c.244A>C (p.Ser82Arg)
Xg.54495190G>ACA516574679FGD1c.243C>T (p.Pro81=)
gnomAD v4
Xg.54495190G>CCA516574680FGD1c.243C>G (p.Pro81=)
Xg.54495190G>TCA516574681FGD1c.243C>A (p.Pro81=)
gnomAD v4
Xg.54495191G>ACA413254522FGD1c.242C>T (p.Pro81Leu)
gnomAD v4
Xg.54495191G>CCA413254523FGD1c.242C>G (p.Pro81Arg)
Xg.54495191G>TCA413254524FGD1c.242C>A (p.Pro81His)
Xg.54495192G>ACA413254525FGD1c.241C>T (p.Pro81Ser)
dbSNP gnomAD v2
Xg.54495192G>CCA413254526FGD1c.241C>G (p.Pro81Ala)
Xg.54495192G=CA2430198367FGD1c.241C= (p.Pro81=)
Xg.54495192G>TCA413254527FGD1c.241C>A (p.Pro81Thr)
gnomAD v4
Xg.54495193_54495231delCA2693846355FGD1c.203_241del (p.Leu68_Gly80del)
gnomAD v4
Xg.54495193A>CCA516574682FGD1c.240T>G (p.Gly80=)
Xg.54495193A>GCA516574683FGD1c.240T>C (p.Gly80=)
Xg.54495193A>TCA516574684FGD1c.240T>A (p.Gly80=)
gnomAD v4
Xg.54495194C>ACA413254529FGD1c.239G>T (p.Gly80Val)
gnomAD v4
Xg.54495194C=CA2430198368FGD1c.239G= (p.Gly80=)
Xg.54495194C>GCA413254531FGD1c.239G>C (p.Gly80Ala)
Xg.54495194C>TCA413254528FGD1c.239G>A (p.Gly80Asp)
dbSNP gnomAD v2 gnomAD v4
Xg.54495195C>ACA413254533FGD1c.238G>T (p.Gly80Cys)
gnomAD v4
Xg.54495195C=CA2430198369FGD1c.238G= (p.Gly80=)
Xg.54495195C>GCA413254535FGD1c.238G>C (p.Gly80Arg)
Xg.54495195C>TCA10425299FGD1c.238G>A (p.Gly80Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54495196G>ACA516574685FGD1c.237C>T (p.Cys79=)
gnomAD v4 COSMIC
Xg.54495196G>CCA413254537FGD1c.237C>G (p.Cys79Trp)
Xg.54495196G>TCA413254538FGD1c.237C>A (p.Cys79Ter)
gnomAD v4
Xg.54495197C>ACA413254543FGD1c.236G>T (p.Cys79Phe)
gnomAD v4
Xg.54495197C>GCA413254542FGD1c.236G>C (p.Cys79Ser)
Xg.54495197C>TCA413254540FGD1c.236G>A (p.Cys79Tyr)
Xg.54495198A>CCA413254545FGD1c.235T>G (p.Cys79Gly)
Xg.54495198A>GCA413254547FGD1c.235T>C (p.Cys79Arg)
gnomAD v4
Xg.54495198A>TCA413254548FGD1c.235T>A (p.Cys79Ser)
gnomAD v4
Xg.54495199G>ACA10425300FGD1c.234C>T (p.Pro78=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54495199G>CCA516574686FGD1c.234C>G (p.Pro78=)
Xg.54495199G=CA2430198370FGD1c.234C= (p.Pro78=)
Xg.54495199G>TCA516574687FGD1c.234C>A (p.Pro78=)
gnomAD v4
Xg.54495200G>ACA413254551FGD1c.233C>T (p.Pro78Leu)
gnomAD v4
Xg.54495200G>CCA413254552FGD1c.233C>G (p.Pro78Arg)
Xg.54495200G>TCA413254554FGD1c.233C>A (p.Pro78His)
gnomAD v4
Xg.54495201G>ACA10425301FGD1c.232C>T (p.Pro78Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54495201G>CCA413254557FGD1c.232C>G (p.Pro78Ala)
Xg.54495201G=CA2430198371FGD1c.232C= (p.Pro78=)
Xg.54495201G>TCA413254556FGD1c.232C>A (p.Pro78Thr)
Xg.54495202C>ACA413254560FGD1c.231G>T (p.Leu77Phe)
gnomAD v4
Xg.54495202C>GCA413254561FGD1c.231G>C (p.Leu77Phe)
Xg.54495202C>TCA516574688FGD1c.231G>A (p.Leu77=)
gnomAD v4
Xg.54495203A>CCA413254563FGD1c.230T>G (p.Leu77Trp)
Xg.54495203A>GCA413254564FGD1c.230T>C (p.Leu77Ser)
gnomAD v4
Xg.54495203A>TCA413254566FGD1c.230T>A (p.Leu77Ter)
Xg.54495204A=CA2430198372FGD1c.229T= (p.Leu77=)
Xg.54495204A>CCA10425302FGD1c.229T>G (p.Leu77Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54495204A>GCA516574689FGD1c.229T>C (p.Leu77=)
gnomAD v4
Xg.54495204A>TCA413254568FGD1c.229T>A (p.Leu77Met)
Xg.54495205G>ACA516574690FGD1c.228C>T (p.Val76=)
gnomAD v4
Xg.54495205G>CCA516574691FGD1c.228C>G (p.Val76=)
gnomAD v4
Xg.54495205G>TCA516574692FGD1c.228C>A (p.Val76=)
gnomAD v4
Xg.54495206A=CA2430198373FGD1c.227T= (p.Val76=)
Xg.54495206A>CCA413254570FGD1c.227T>G (p.Val76Gly)
Xg.54495206A>GCA413254571FGD1c.227T>C (p.Val76Ala)
dbSNP gnomAD v3 gnomAD v4
Xg.54495206A>TCA413254572FGD1c.227T>A (p.Val76Asp)
Xg.54495207C>ACA413254574FGD1c.226G>T (p.Val76Phe)
gnomAD v4
Xg.54495207C=CA2430198374FGD1c.226G= (p.Val76=)
Xg.54495207C>GCA413254576FGD1c.226G>C (p.Val76Leu)
gnomAD v4
Xg.54495207C>TCA413254578FGD1c.226G>A (p.Val76Ile)
dbSNP gnomAD v3 gnomAD v4
Xg.54495208C>ACA516574693FGD1c.225G>T (p.Arg75=)
gnomAD v4
Xg.54495208C>GCA516574694FGD1c.225G>C (p.Arg75=)
Xg.54495208C>TCA516574695FGD1c.225G>A (p.Arg75=)
gnomAD v4
Xg.54495209C>ACA328946598FGD1c.224G>T (p.Arg75Leu)
dbSNP gnomAD v4
Xg.54495209C=CA2430198375FGD1c.224G= (p.Arg75=)
Xg.54495209C>GCA413254582FGD1c.224G>C (p.Arg75Pro)
Xg.54495209C>TCA413254579FGD1c.224G>A (p.Arg75Gln)
Xg.54495210G>ACA413254585FGD1c.223C>T (p.Arg75Trp)
gnomAD v4
Xg.54495210G>CCA413254584FGD1c.223C>G (p.Arg75Gly)
dbSNP gnomAD v2
Xg.54495210G=CA2430198376FGD1c.223C= (p.Arg75=)
Xg.54495210G>TCA516574696FGD1c.223C>A (p.Arg75=)
gnomAD v4
Xg.54495211G>ACA516574697FGD1c.222C>T (p.His74=)
gnomAD v4
Xg.54495211G>CCA413254587FGD1c.222C>G (p.His74Gln)
gnomAD v4
Xg.54495211G=CA2430198377FGD1c.222C= (p.His74=)
Xg.54495211G>TCA413254589FGD1c.222C>A (p.His74Gln)
ClinVar dbSNP gnomAD v2
Xg.54495212delCA2559531168FGD1c.221del (p.His74ProfsTer?)
Xg.54495212T>ACA328946603FGD1c.221A>T (p.His74Leu)
dbSNP
Xg.54495212T>CCA413254591FGD1c.221A>G (p.His74Arg)
dbSNP
Xg.54495212T>GCA413254592FGD1c.221A>C (p.His74Pro)
Xg.54495212T=CA2430198378FGD1c.221A= (p.His74=)
Xg.54495213G>ACA413254598FGD1c.220C>T (p.His74Tyr)
Xg.54495213G>CCA413254596FGD1c.220C>G (p.His74Asp)
Xg.54495213G>TCA413254595FGD1c.220C>A (p.His74Asn)
gnomAD v4
Xg.54495214G>ACA516574698FGD1c.219C>T (p.Gly73=)
gnomAD v4
Xg.54495214G>CCA516574700FGD1c.219C>G (p.Gly73=)
Xg.54495214G>TCA516574699FGD1c.219C>A (p.Gly73=)
gnomAD v4
Xg.54495215C>ACA413254599FGD1c.218G>T (p.Gly73Val)
Xg.54495215C=CA2430198379FGD1c.218G= (p.Gly73=)
Xg.54495215C>GCA413254600FGD1c.218G>C (p.Gly73Ala)
Xg.54495215C>TCA413254602FGD1c.218G>A (p.Gly73Asp)
dbSNP gnomAD v2 gnomAD v4
Xg.54495216C>ACA413254604FGD1c.217G>T (p.Gly73Cys)
gnomAD v4
Xg.54495216C>GCA413254606FGD1c.217G>C (p.Gly73Arg)
Xg.54495216C>TCA413254607FGD1c.217G>A (p.Gly73Ser)
Xg.54495217T>ACA516574701FGD1c.216A>T (p.Pro72=)
gnomAD v4
Xg.54495217T>CCA516574702FGD1c.216A>G (p.Pro72=)
gnomAD v4
Xg.54495217T>GCA516574703FGD1c.216A>C (p.Pro72=)
Xg.54495218G>ACA413254609FGD1c.215C>T (p.Pro72Leu)
gnomAD v4
Xg.54495218G>CCA413254613FGD1c.215C>G (p.Pro72Arg)
Xg.54495218G>TCA413254611FGD1c.215C>A (p.Pro72Gln)
Xg.54495219delCA2693846356FGD1c.215del (p.Pro72GlnfsTer?)
gnomAD v4
Xg.54495219G>ACA413254614FGD1c.214C>T (p.Pro72Ser)
Xg.54495219G>CCA413254616FGD1c.214C>G (p.Pro72Ala)
Xg.54495219G>TCA413254618FGD1c.214C>A (p.Pro72Thr)
gnomAD v4
Xg.54495220A>CCA516574704FGD1c.213T>G (p.Ala71=)
Xg.54495220A>GCA516574706FGD1c.213T>C (p.Ala71=)
gnomAD v4
Xg.54495220A>TCA516574705FGD1c.213T>A (p.Ala71=)
gnomAD v4
Xg.54495221G>ACA413254620FGD1c.212C>T (p.Ala71Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.54495221G>CCA413254621FGD1c.212C>G (p.Ala71Gly)
Xg.54495221G=CA2430198380FGD1c.212C= (p.Ala71=)
Xg.54495221G>TCA413254623FGD1c.212C>A (p.Ala71Asp)
gnomAD v4
Xg.54495222C>ACA413254625FGD1c.211G>T (p.Ala71Ser)
Xg.54495222C=CA2430198381FGD1c.211G= (p.Ala71=)
Xg.54495222C>GCA413254627FGD1c.211G>C (p.Ala71Pro)
Xg.54495222C>TCA10425303FGD1c.211G>A (p.Ala71Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54495223A>CCA516574707FGD1c.210T>G (p.Ala70=)
Xg.54495223A>GCA516574708FGD1c.210T>C (p.Ala70=)
gnomAD v4
Xg.54495223A>TCA516574709FGD1c.210T>A (p.Ala70=)
Xg.54495224G>ACA413254628FGD1c.209C>T (p.Ala70Val)
gnomAD v4
Xg.54495224G>CCA413254629FGD1c.209C>G (p.Ala70Gly)
Xg.54495224G>TCA413254631FGD1c.209C>A (p.Ala70Asp)
gnomAD v4
Xg.54495225C>ACA413254636FGD1c.208G>T (p.Ala70Ser)
gnomAD v4
Xg.54495225C=CA2430198382FGD1c.208G= (p.Ala70=)
Xg.54495225C>GCA413254633FGD1c.208G>C (p.Ala70Pro)
dbSNP gnomAD v2
Xg.54495225C>TCA413254635FGD1c.208G>A (p.Ala70Thr)
gnomAD v4 COSMIC
Xg.54495226G>ACA10606018FGD1c.207C>T (p.Gly69=)
ClinVar dbSNP
Xg.54495226G>CCA516574710FGD1c.207C>G (p.Gly69=)
Xg.54495226G=CA2430198383FGD1c.207C= (p.Gly69=)
Xg.54495226G>TCA516574711FGD1c.207C>A (p.Gly69=)
gnomAD v4
Xg.54495227C>ACA413254639FGD1c.206G>T (p.Gly69Val)
gnomAD v4
Xg.54495227C>GCA413254640FGD1c.206G>C (p.Gly69Ala)
Xg.54495227C>TCA413254642FGD1c.206G>A (p.Gly69Asp)
Xg.54495228C>ACA413254643FGD1c.205G>T (p.Gly69Cys)
gnomAD v4
Xg.54495228C=CA2430198384FGD1c.205G= (p.Gly69=)
Xg.54495228C>GCA413254645FGD1c.205G>C (p.Gly69Arg)
Xg.54495228C>TCA413254647FGD1c.205G>A (p.Gly69Ser)
dbSNP gnomAD v4
Xg.54495229C>ACA516574714FGD1c.204G>T (p.Leu68=)
gnomAD v4
Xg.54495229C>GCA516574712FGD1c.204G>C (p.Leu68=)
Xg.54495229C>TCA516574713FGD1c.204G>A (p.Leu68=)
Xg.54495230A>CCA413254649FGD1c.203T>G (p.Leu68Arg)
gnomAD v4
Xg.54495230A>GCA413254651FGD1c.203T>C (p.Leu68Pro)
gnomAD v4
Xg.54495230A>TCA413254650FGD1c.203T>A (p.Leu68Gln)
Xg.54495231G>ACA516574715FGD1c.202C>T (p.Leu68=)
Xg.54495231G>CCA413254654FGD1c.202C>G (p.Leu68Val)
gnomAD v4
Xg.54495231G>TCA413254655FGD1c.202C>A (p.Leu68Met)
gnomAD v4
Xg.54495232G>ACA516574716FGD1c.201C>T (p.Ser67=)
gnomAD v4
Xg.54495232G>CCA413254657FGD1c.201C>G (p.Ser67Arg)
Xg.54495232G=CA2430198385FGD1c.201C= (p.Ser67=)
Xg.54495232G>TCA10425304FGD1c.201C>A (p.Ser67Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54495233C>ACA413254662FGD1c.200G>T (p.Ser67Ile)
Xg.54495233C=CA2430198386FGD1c.200G= (p.Ser67=)
Xg.54495233C>GCA413254660FGD1c.200G>C (p.Ser67Thr)
Xg.54495233C>TCA10425305FGD1c.200G>A (p.Ser67Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54495234T>ACA413254663FGD1c.199A>T (p.Ser67Cys)
Xg.54495234T>CCA413254665FGD1c.199A>G (p.Ser67Gly)
gnomAD v4 COSMIC
Xg.54495234T>GCA413254667FGD1c.199A>C (p.Ser67Arg)
Xg.54495235G>ACA516574717FGD1c.198C>T (p.Thr66=)
dbSNP gnomAD v2 gnomAD v4
Xg.54495235G>CCA516574718FGD1c.198C>G (p.Thr66=)
Xg.54495235G=CA2430198387FGD1c.198C= (p.Thr66=)
Xg.54495235G>TCA10425306FGD1c.198C>A (p.Thr66=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54495236G>ACA413254669FGD1c.197C>T (p.Thr66Ile)
dbSNP gnomAD v3 gnomAD v4
Xg.54495236G>CCA413254671FGD1c.197C>G (p.Thr66Ser)
gnomAD v4
Xg.54495236G=CA2430198388FGD1c.197C= (p.Thr66=)
Xg.54495236G>TCA413254673FGD1c.197C>A (p.Thr66Asn)
gnomAD v4
Xg.54495237T>ACA413254675FGD1c.196A>T (p.Thr66Ser)
gnomAD v4
Xg.54495237T>CCA413254676FGD1c.196A>G (p.Thr66Ala)
Xg.54495237T>GCA413254677FGD1c.196A>C (p.Thr66Pro)
Xg.54495238G>ACA516574719FGD1c.195C>T (p.Asp65=)
gnomAD v4
Xg.54495238G>CCA413254679FGD1c.195C>G (p.Asp65Glu)
Xg.54495238G>TCA413254681FGD1c.195C>A (p.Asp65Glu)
gnomAD v4
Xg.54495239T>ACA413254686FGD1c.194A>T (p.Asp65Val)
Xg.54495239T>CCA413254683FGD1c.194A>G (p.Asp65Gly)
Xg.54495239T>GCA413254684FGD1c.194A>C (p.Asp65Ala)
Xg.54495240C>ACA413254688FGD1c.193G>T (p.Asp65Tyr)
gnomAD v4
Xg.54495240C>GCA413254691FGD1c.193G>C (p.Asp65His)
Xg.54495240C>TCA413254690FGD1c.193G>A (p.Asp65Asn)
gnomAD v4
Xg.54495241C>ACA516574720FGD1c.192G>T (p.Ser64=)
gnomAD v4
Xg.54495241C=CA2430198389FGD1c.192G= (p.Ser64=)
Xg.54495241C>GCA516574721FGD1c.192G>C (p.Ser64=)
Xg.54495241C>TCA10425307FGD1c.192G>A (p.Ser64=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54495242G>ACA413254694FGD1c.191C>T (p.Ser64Leu)
gnomAD v4 COSMIC
Xg.54495242G>CCA413254696FGD1c.191C>G (p.Ser64Trp)
gnomAD v4
Xg.54495242G>TCA413254697FGD1c.191C>A (p.Ser64Ter)
gnomAD v4
Xg.54495243A>CCA413254700FGD1c.190T>G (p.Ser64Ala)
Xg.54495243A>GCA413254701FGD1c.190T>C (p.Ser64Pro)
gnomAD v4
Xg.54495243A>TCA413254703FGD1c.190T>A (p.Ser64Thr)
Xg.54495244G>ACA516574722FGD1c.189C>T (p.Pro63=)
gnomAD v4
Xg.54495244G>CCA516574723FGD1c.189C>G (p.Pro63=)
Xg.54495244G>TCA516574724FGD1c.189C>A (p.Pro63=)
gnomAD v4
Xg.54495245G>ACA413254704FGD1c.188C>T (p.Pro63Leu)
Xg.54495245G>CCA413254706FGD1c.188C>G (p.Pro63Arg)
Xg.54495245G>TCA413254708FGD1c.188C>A (p.Pro63His)
gnomAD v4
Xg.54495246G>ACA413254710FGD1c.187C>T (p.Pro63Ser)
Xg.54495246G>CCA413254711FGD1c.187C>G (p.Pro63Ala)
Xg.54495246G>TCA413254713FGD1c.187C>A (p.Pro63Thr)
Xg.54495247T>ACA516574725FGD1c.186A>T (p.Gly62=)
Xg.54495247T>CCA10425308FGD1c.186A>G (p.Gly62=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54495247T>GCA516574726FGD1c.186A>C (p.Gly62=)
Xg.54495247T=CA2430198390FGD1c.186A= (p.Gly62=)
Xg.54495248C>ACA413254715FGD1c.185G>T (p.Gly62Val)
gnomAD v4
Xg.54495248C>GCA413254716FGD1c.185G>C (p.Gly62Ala)
gnomAD v4
Xg.54495248C>TCA413254717FGD1c.185G>A (p.Gly62Glu)
gnomAD v4
Xg.54495249C>ACA413254718FGD1c.184G>T (p.Gly62Ter)
gnomAD v4
Xg.54495249C=CA2430198391FGD1c.184G= (p.Gly62=)
Xg.54495249C>GCA413254720FGD1c.184G>C (p.Gly62Arg)
Xg.54495249C>TCA328946667FGD1c.184G>A (p.Gly62Arg)
dbSNP gnomAD v4
Xg.54495250G>ACA10425309FGD1c.183C>T (p.Val61=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.54495250G>CCA516574728FGD1c.183C>G (p.Val61=)
Xg.54495250G=CA2430198392FGD1c.183C= (p.Val61=)
Xg.54495250G>TCA516574727FGD1c.183C>A (p.Val61=)
gnomAD v4
Xg.54495251A>CCA413254723FGD1c.182T>G (p.Val61Gly)
Xg.54495251A>GCA413254725FGD1c.182T>C (p.Val61Ala)
Xg.54495251A>TCA413254727FGD1c.182T>A (p.Val61Asp)
Xg.54495252C>ACA413254729FGD1c.181G>T (p.Val61Phe)
gnomAD v4
Xg.54495252C>GCA413254730FGD1c.181G>C (p.Val61Leu)
Xg.54495252C>TCA413254731FGD1c.181G>A (p.Val61Ile)
gnomAD v4
Xg.54495253A>CCA413254733FGD1c.180T>G (p.Phe60Leu)
Xg.54495253A>GCA516574729FGD1c.180T>C (p.Phe60=)
Xg.54495253A>TCA413254735FGD1c.180T>A (p.Phe60Leu)
Xg.54495254A>CCA413254737FGD1c.179T>G (p.Phe60Cys)
gnomAD v4
Xg.54495254A>GCA413254738FGD1c.179T>C (p.Phe60Ser)
Xg.54495254A>TCA413254739FGD1c.179T>A (p.Phe60Tyr)
Xg.54495255A>CCA413254741FGD1c.178T>G (p.Phe60Val)
Xg.54495255A>GCA413254743FGD1c.178T>C (p.Phe60Leu)
Xg.54495255A>TCA413254744FGD1c.178T>A (p.Phe60Ile)
Xg.54495256C>ACA413254747FGD1c.177G>T (p.Gln59His)
gnomAD v4
Xg.54495256C>GCA413254746FGD1c.177G>C (p.Gln59His)
Xg.54495256C>TCA516574730FGD1c.177G>A (p.Gln59=)
Xg.54495257T>ACA413254749FGD1c.176A>T (p.Gln59Leu)
Xg.54495257T>CCA413254750FGD1c.176A>G (p.Gln59Arg)
gnomAD v4
Xg.54495257T>GCA413254752FGD1c.176A>C (p.Gln59Pro)
gnomAD v4
Xg.54495257_54495258delinsTGCA2430198393FGD1c.175_176delinsCA (p.Gln59=)
Xg.54495258G>ACA200463FGD1c.175C>T (p.Gln59Ter)
ClinVar dbSNP gnomAD v4
Xg.54495258G>CCA413254754FGD1c.175C>G (p.Gln59Glu)
Xg.54495258G=CA2430198394FGD1c.175C= (p.Gln59=)
Xg.54495258G>TCA413254755FGD1c.175C>A (p.Gln59Lys)
gnomAD v4
Xg.54495261delCA641393784FGD1c.175del (p.Gln59SerfsTer?)
dbSNP gnomAD v2
Xg.54495259G>ACA516574731FGD1c.174C>T (p.Pro58=)
dbSNP gnomAD v2
Xg.54495259G>CCA516574732FGD1c.174C>G (p.Pro58=)
Xg.54495259G=CA2430198395FGD1c.174C= (p.Pro58=)
Xg.54495259G>TCA516574733FGD1c.174C>A (p.Pro58=)
gnomAD v4
Xg.54495260G>ACA413254756FGD1c.173C>T (p.Pro58Leu)
gnomAD v4
Xg.54495260G>CCA413254760FGD1c.173C>G (p.Pro58Arg)
Xg.54495260G>TCA413254758FGD1c.173C>A (p.Pro58His)
gnomAD v4
Xg.54495261G>ACA413254761FGD1c.172C>T (p.Pro58Ser)
Xg.54495261G>CCA413254762FGD1c.172C>G (p.Pro58Ala)
Xg.54495261G>TCA413254764FGD1c.172C>A (p.Pro58Thr)
gnomAD v4
Xg.54495262A>CCA413254766FGD1c.171T>G (p.Asp57Glu)
Xg.54495262A>GCA516574734FGD1c.171T>C (p.Asp57=)
Xg.54495262A>TCA413254768FGD1c.171T>A (p.Asp57Glu)
Xg.54495263T>ACA413254769FGD1c.170A>T (p.Asp57Val)
Xg.54495263T>CCA413254770FGD1c.170A>G (p.Asp57Gly)
Xg.54495263T>GCA413254772FGD1c.170A>C (p.Asp57Ala)
Xg.54495264C>ACA413254774FGD1c.169G>T (p.Asp57Tyr)
gnomAD v4
Xg.54495264C>GCA413254776FGD1c.169G>C (p.Asp57His)
Xg.54495264C>TCA413254777FGD1c.169G>A (p.Asp57Asn)
gnomAD v4
Xg.54495265C>ACA516574735FGD1c.168G>T (p.Leu56=)
gnomAD v4
Xg.54495265C>GCA516574736FGD1c.168G>C (p.Leu56=)
Xg.54495265C>TCA516574737FGD1c.168G>A (p.Leu56=)
gnomAD v4
Xg.54495266A>CCA413254779FGD1c.167T>G (p.Leu56Arg)
Xg.54495266A>GCA413254783FGD1c.167T>C (p.Leu56Pro)
Xg.54495266A>TCA413254781FGD1c.167T>A (p.Leu56Gln)
gnomAD v4
Xg.54495267G>ACA516574738FGD1c.166C>T (p.Leu56=)
gnomAD v4
Xg.54495267G>CCA413254784FGD1c.166C>G (p.Leu56Val)
Xg.54495267G>TCA413254785FGD1c.166C>A (p.Leu56Met)
gnomAD v4
Xg.54495268T>ACA516574739FGD1c.165A>T (p.Pro55=)
Xg.54495268T>CCA516574740FGD1c.165A>G (p.Pro55=)
gnomAD v4
Xg.54495268T>GCA516574741FGD1c.165A>C (p.Pro55=)
Xg.54495269G>ACA413254788FGD1c.164C>T (p.Pro55Leu)
Xg.54495269G>CCA413254791FGD1c.164C>G (p.Pro55Arg)
Xg.54495269G>TCA413254789FGD1c.164C>A (p.Pro55Gln)
gnomAD v4
Xg.54495270G>ACA413254792FGD1c.163C>T (p.Pro55Ser)
Xg.54495270G>CCA413254794FGD1c.163C>G (p.Pro55Ala)
Xg.54495270G>TCA413254796FGD1c.163C>A (p.Pro55Thr)
gnomAD v4
Xg.54495270_54495273delinsGGCCCA2430198396FGD1c.160_163delinsGGCC (p.Gly54=)

Number of alleles fetched