Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55957318T>ACA385217693PMELc.985A>T (p.Thr329Ser)
c.838A>T (p.Thr280Ser)
c.823A>T (p.Thr275Ser)
c.538A>T (p.Thr180Ser)
c.647A>T
n.25A>T
c.358+1155A>T (n.358+1155A>T)
c.727A>T (p.Thr243Ser)
n.721A>T
12g.55957318T>CCA385217694PMELc.985A>G (p.Thr329Ala)
c.838A>G (p.Thr280Ala)
c.823A>G (p.Thr275Ala)
c.538A>G (p.Thr180Ala)
c.647A>G
n.25A>G
c.358+1155A>G (n.358+1155A>G)
c.727A>G (p.Thr243Ala)
n.721A>G
12g.55957318T>GCA385217695PMELc.985A>C (p.Thr329Pro)
c.838A>C (p.Thr280Pro)
c.823A>C (p.Thr275Pro)
c.538A>C (p.Thr180Pro)
c.647A>C
n.25A>C
c.358+1155A>C (n.358+1155A>C)
c.727A>C (p.Thr243Pro)
n.721A>C
12g.55957319A>CCA480364957PMELc.984T>G (p.Pro328=)
c.837T>G (p.Pro279=)
c.822T>G (p.Pro274=)
c.537T>G (p.Pro179=)
c.646T>G
n.24T>G
c.358+1154T>G (n.358+1154T>G)
c.726T>G (p.Pro242=)
n.720T>G
12g.55957319A>GCA480364958PMELc.984T>C (p.Pro328=)
c.837T>C (p.Pro279=)
c.822T>C (p.Pro274=)
c.537T>C (p.Pro179=)
c.646T>C
n.24T>C
c.358+1154T>C (n.358+1154T>C)
c.726T>C (p.Pro242=)
n.720T>C
12g.55957319A>TCA480364959PMELc.984T>A (p.Pro328=)
c.837T>A (p.Pro279=)
c.822T>A (p.Pro274=)
c.537T>A (p.Pro179=)
c.646T>A
n.24T>A
c.358+1154T>A (n.358+1154T>A)
c.726T>A (p.Pro242=)
n.720T>A
12g.55957320G>ACA385217697PMELc.983C>T (p.Pro328Leu)
c.836C>T (p.Pro279Leu)
c.821C>T (p.Pro274Leu)
c.536C>T (p.Pro179Leu)
c.645C>T
n.23C>T
c.358+1153C>T (n.358+1153C>T)
c.725C>T (p.Pro242Leu)
n.719C>T
12g.55957320G>CCA385217698PMELc.983C>G (p.Pro328Arg)
c.836C>G (p.Pro279Arg)
c.821C>G (p.Pro274Arg)
c.536C>G (p.Pro179Arg)
c.645C>G
n.23C>G
c.358+1153C>G (n.358+1153C>G)
c.725C>G (p.Pro242Arg)
n.719C>G
12g.55957320G>TCA385217700PMELc.983C>A (p.Pro328His)
c.836C>A (p.Pro279His)
c.821C>A (p.Pro274His)
c.536C>A (p.Pro179His)
c.645C>A
n.23C>A
c.358+1153C>A (n.358+1153C>A)
c.725C>A (p.Pro242His)
n.719C>A
12g.55957321G>ACA385217701PMELc.982C>T (p.Pro328Ser)
c.835C>T (p.Pro279Ser)
c.820C>T (p.Pro274Ser)
c.535C>T (p.Pro179Ser)
c.644C>T
n.22C>T
c.358+1152C>T (n.358+1152C>T)
c.724C>T (p.Pro242Ser)
n.718C>T
12g.55957321G>CCA385217704PMELc.982C>G (p.Pro328Ala)
c.835C>G (p.Pro279Ala)
c.820C>G (p.Pro274Ala)
c.535C>G (p.Pro179Ala)
c.644C>G
n.22C>G
c.358+1152C>G (n.358+1152C>G)
c.724C>G (p.Pro242Ala)
n.718C>G
12g.55957321G>TCA385217707PMELc.982C>A (p.Pro328Thr)
c.835C>A (p.Pro279Thr)
c.820C>A (p.Pro274Thr)
c.535C>A (p.Pro179Thr)
c.644C>A
n.22C>A
c.358+1152C>A (n.358+1152C>A)
c.724C>A (p.Pro242Thr)
n.718C>A
 gnomAD v4
12g.55957322C>ACA480364965PMELc.981G>T (p.Val327=)
c.834G>T (p.Val278=)
c.819G>T (p.Val273=)
c.534G>T (p.Val178=)
c.643G>T
n.21G>T
c.358+1151G>T (n.358+1151G>T)
c.723G>T (p.Val241=)
n.717G>T
12g.55957322C>GCA480364961PMELc.981G>C (p.Val327=)
c.834G>C (p.Val278=)
c.819G>C (p.Val273=)
c.534G>C (p.Val178=)
c.643G>C
n.21G>C
c.358+1151G>C (n.358+1151G>C)
c.723G>C (p.Val241=)
n.717G>C
12g.55957322C>TCA480364963PMELc.981G>A (p.Val327=)
c.834G>A (p.Val278=)
c.819G>A (p.Val273=)
c.534G>A (p.Val178=)
c.643G>A
n.21G>A
c.358+1151G>A (n.358+1151G>A)
c.723G>A (p.Val241=)
n.717G>A
 gnomAD v4
12g.55957323A>CCA385217710PMELc.980T>G (p.Val327Gly)
c.833T>G (p.Val278Gly)
c.818T>G (p.Val273Gly)
c.533T>G (p.Val178Gly)
c.642T>G
n.20T>G
c.358+1150T>G (n.358+1150T>G)
c.722T>G (p.Val241Gly)
n.716T>G
12g.55957323A>GCA385217712PMELc.980T>C (p.Val327Ala)
c.833T>C (p.Val278Ala)
c.818T>C (p.Val273Ala)
c.533T>C (p.Val178Ala)
c.642T>C
n.20T>C
c.358+1150T>C (n.358+1150T>C)
c.722T>C (p.Val241Ala)
n.716T>C
12g.55957323A>TCA385217708PMELc.980T>A (p.Val327Glu)
c.833T>A (p.Val278Glu)
c.818T>A (p.Val273Glu)
c.533T>A (p.Val178Glu)
c.642T>A
n.20T>A
c.358+1150T>A (n.358+1150T>A)
c.722T>A (p.Val241Glu)
n.716T>A
12g.55957324C>ACA385217713PMELc.979G>T (p.Val327Leu)
c.832G>T (p.Val278Leu)
c.817G>T (p.Val273Leu)
c.532G>T (p.Val178Leu)
c.641G>T
n.19G>T
c.358+1149G>T (n.358+1149G>T)
c.721G>T (p.Val241Leu)
n.715G>T
12g.55957324C=CA2038181503PMELc.979G= (p.Val327=)
c.832G= (p.Val278=)
c.817G= (p.Val273=)
c.532G= (p.Val178=)
c.641G=
n.19G=
c.358+1149G= (n.358+1149G=)
c.721G= (p.Val241=)
n.715G=
12g.55957324C>GCA385217716PMELc.979G>C (p.Val327Leu)
c.832G>C (p.Val278Leu)
c.817G>C (p.Val273Leu)
c.532G>C (p.Val178Leu)
c.641G>C
n.19G>C
c.358+1149G>C (n.358+1149G>C)
c.721G>C (p.Val241Leu)
n.715G>C
 dbSNP
12g.55957324C>TCA385217715PMELc.979G>A (p.Val327Met)
c.832G>A (p.Val278Met)
c.817G>A (p.Val273Met)
c.532G>A (p.Val178Met)
c.641G>A
n.19G>A
c.358+1149G>A (n.358+1149G>A)
c.721G>A (p.Val241Met)
n.715G>A
12g.55957325T>ACA385217717PMELc.978A>T (p.Gln326His)
c.831A>T (p.Gln277His)
c.816A>T (p.Gln272His)
c.531A>T (p.Gln177His)
c.640A>T
n.18A>T
c.358+1148A>T (n.358+1148A>T)
c.720A>T (p.Gln240His)
n.714A>T
12g.55957325T>CCA480364968PMELc.978A>G (p.Gln326=)
c.831A>G (p.Gln277=)
c.816A>G (p.Gln272=)
c.531A>G (p.Gln177=)
c.640A>G
n.18A>G
c.358+1148A>G (n.358+1148A>G)
c.720A>G (p.Gln240=)
n.714A>G
12g.55957325T>GCA385217718PMELc.978A>C (p.Gln326His)
c.831A>C (p.Gln277His)
c.816A>C (p.Gln272His)
c.531A>C (p.Gln177His)
c.640A>C
n.18A>C
c.358+1148A>C (n.358+1148A>C)
c.720A>C (p.Gln240His)
n.714A>C
12g.55957326T>ACA385217720PMELc.977A>T (p.Gln326Leu)
c.830A>T (p.Gln277Leu)
c.815A>T (p.Gln272Leu)
c.530A>T (p.Gln177Leu)
c.639A>T
n.17A>T
c.358+1147A>T (n.358+1147A>T)
c.719A>T (p.Gln240Leu)
n.713A>T
12g.55957326T>CCA237591035PMELc.977A>G (p.Gln326Arg)
c.830A>G (p.Gln277Arg)
c.815A>G (p.Gln272Arg)
c.530A>G (p.Gln177Arg)
c.639A>G
n.17A>G
c.358+1147A>G (n.358+1147A>G)
c.719A>G (p.Gln240Arg)
n.713A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957326T>GCA385217722PMELc.977A>C (p.Gln326Pro)
c.830A>C (p.Gln277Pro)
c.815A>C (p.Gln272Pro)
c.530A>C (p.Gln177Pro)
c.639A>C
n.17A>C
c.358+1147A>C (n.358+1147A>C)
c.719A>C (p.Gln240Pro)
n.713A>C
12g.55957326T=CA2038181506PMELc.977A= (p.Gln326=)
c.830A= (p.Gln277=)
c.815A= (p.Gln272=)
c.530A= (p.Gln177=)
c.639A=
n.17A=
c.358+1147A= (n.358+1147A=)
c.719A= (p.Gln240=)
n.713A=
12g.55957327G>ACA385217724PMELc.976C>T (p.Gln326Ter)
c.829C>T (p.Gln277Ter)
c.814C>T (p.Gln272Ter)
c.529C>T (p.Gln177Ter)
c.638C>T
n.16C>T
c.358+1146C>T (n.358+1146C>T)
c.718C>T (p.Gln240Ter)
n.712C>T
12g.55957327G>CCA385217726PMELc.976C>G (p.Gln326Glu)
c.829C>G (p.Gln277Glu)
c.814C>G (p.Gln272Glu)
c.529C>G (p.Gln177Glu)
c.638C>G
n.16C>G
c.358+1146C>G (n.358+1146C>G)
c.718C>G (p.Gln240Glu)
n.712C>G
12g.55957327G>TCA385217727PMELc.976C>A (p.Gln326Lys)
c.829C>A (p.Gln277Lys)
c.814C>A (p.Gln272Lys)
c.529C>A (p.Gln177Lys)
c.638C>A
n.16C>A
c.358+1146C>A (n.358+1146C>A)
c.718C>A (p.Gln240Lys)
n.712C>A
12g.55957328G>ACA480364972PMELc.975C>T (p.Gly325=)
c.828C>T (p.Gly276=)
c.813C>T (p.Gly271=)
c.528C>T (p.Gly176=)
c.637C>T
n.15C>T
c.358+1145C>T (n.358+1145C>T)
c.717C>T (p.Gly239=)
n.711C>T
 dbSNP gnomAD v2 gnomAD v4
12g.55957328G>CCA480364973PMELc.975C>G (p.Gly325=)
c.828C>G (p.Gly276=)
c.813C>G (p.Gly271=)
c.528C>G (p.Gly176=)
c.637C>G
n.15C>G
c.358+1145C>G (n.358+1145C>G)
c.717C>G (p.Gly239=)
n.711C>G
 dbSNP
12g.55957328G=CA2038181508PMELc.975C= (p.Gly325=)
c.828C= (p.Gly276=)
c.813C= (p.Gly271=)
c.528C= (p.Gly176=)
c.637C=
n.15C=
c.358+1145C= (n.358+1145C=)
c.717C= (p.Gly239=)
n.711C=
12g.55957328G>TCA480364976PMELc.975C>A (p.Gly325=)
c.828C>A (p.Gly276=)
c.813C>A (p.Gly271=)
c.528C>A (p.Gly176=)
c.637C>A
n.15C>A
c.358+1145C>A (n.358+1145C>A)
c.717C>A (p.Gly239=)
n.711C>A
12g.55957329C>ACA6620093PMELc.974G>T (p.Gly325Val)
c.827G>T (p.Gly276Val)
c.812G>T (p.Gly271Val)
c.527G>T (p.Gly176Val)
c.636G>T
n.14G>T
c.358+1144G>T (n.358+1144G>T)
c.716G>T (p.Gly239Val)
n.710G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957329C=CA2038181512PMELc.974G= (p.Gly325=)
c.827G= (p.Gly276=)
c.812G= (p.Gly271=)
c.527G= (p.Gly176=)
c.636G=
n.14G=
c.358+1144G= (n.358+1144G=)
c.716G= (p.Gly239=)
n.710G=
12g.55957329C>GCA385217729PMELc.974G>C (p.Gly325Ala)
c.827G>C (p.Gly276Ala)
c.812G>C (p.Gly271Ala)
c.527G>C (p.Gly176Ala)
c.636G>C
n.14G>C
c.358+1144G>C (n.358+1144G>C)
c.716G>C (p.Gly239Ala)
n.710G>C
12g.55957329C>TCA385217730PMELc.974G>A (p.Gly325Asp)
c.827G>A (p.Gly276Asp)
c.812G>A (p.Gly271Asp)
c.527G>A (p.Gly176Asp)
c.636G>A
n.14G>A
c.358+1144G>A (n.358+1144G>A)
c.716G>A (p.Gly239Asp)
n.710G>A
12g.55957330C>ACA385217736PMELc.973G>T (p.Gly325Cys)
c.826G>T (p.Gly276Cys)
c.811G>T (p.Gly271Cys)
c.526G>T (p.Gly176Cys)
c.635G>T
n.13G>T
c.358+1143G>T (n.358+1143G>T)
c.715G>T (p.Gly239Cys)
n.709G>T
12g.55957330C=CA2038181516PMELc.973G= (p.Gly325=)
c.826G= (p.Gly276=)
c.811G= (p.Gly271=)
c.526G= (p.Gly176=)
c.635G=
n.13G=
c.358+1143G= (n.358+1143G=)
c.715G= (p.Gly239=)
n.709G=
12g.55957330C>GCA385217734PMELc.973G>C (p.Gly325Arg)
c.826G>C (p.Gly276Arg)
c.811G>C (p.Gly271Arg)
c.526G>C (p.Gly176Arg)
c.635G>C
n.13G>C
c.358+1143G>C (n.358+1143G>C)
c.715G>C (p.Gly239Arg)
n.709G>C
12g.55957330C>TCA385217732PMELc.973G>A (p.Gly325Ser)
c.826G>A (p.Gly276Ser)
c.811G>A (p.Gly271Ser)
c.526G>A (p.Gly176Ser)
c.635G>A
n.13G>A
c.358+1143G>A (n.358+1143G>A)
c.715G>A (p.Gly239Ser)
n.709G>A
 dbSNP gnomAD v4
12g.55957331A=CA2038181520PMELc.972T= (p.Ala324=)
c.825T= (p.Ala275=)
c.810T= (p.Ala270=)
c.525T= (p.Ala175=)
c.634T=
n.12T=
c.358+1142T= (n.358+1142T=)
c.714T= (p.Ala238=)
n.708T=
12g.55957331A>CCA480364977PMELc.972T>G (p.Ala324=)
c.825T>G (p.Ala275=)
c.810T>G (p.Ala270=)
c.525T>G (p.Ala175=)
c.634T>G
n.12T>G
c.358+1142T>G (n.358+1142T>G)
c.714T>G (p.Ala238=)
n.708T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957331A>GCA480364978PMELc.972T>C (p.Ala324=)
c.825T>C (p.Ala275=)
c.810T>C (p.Ala270=)
c.525T>C (p.Ala175=)
c.634T>C
n.12T>C
c.358+1142T>C (n.358+1142T>C)
c.714T>C (p.Ala238=)
n.708T>C
 gnomAD v4
12g.55957331A>TCA480364979PMELc.972T>A (p.Ala324=)
c.825T>A (p.Ala275=)
c.810T>A (p.Ala270=)
c.525T>A (p.Ala175=)
c.634T>A
n.12T>A
c.358+1142T>A (n.358+1142T>A)
c.714T>A (p.Ala238=)
n.708T>A
12g.55957332G>ACA385217737PMELc.971C>T (p.Ala324Val)
c.824C>T (p.Ala275Val)
c.809C>T (p.Ala270Val)
c.524C>T (p.Ala175Val)
c.633C>T
n.11C>T
c.358+1141C>T (n.358+1141C>T)
c.713C>T (p.Ala238Val)
n.707C>T
12g.55957332G>CCA385217738PMELc.971C>G (p.Ala324Gly)
c.824C>G (p.Ala275Gly)
c.809C>G (p.Ala270Gly)
c.524C>G (p.Ala175Gly)
c.633C>G
n.11C>G
c.358+1141C>G (n.358+1141C>G)
c.713C>G (p.Ala238Gly)
n.707C>G

Number of alleles fetched