Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189575235A>CCA349989742SLC40A1c.197T>G (p.Leu66Arg)
n.638T>G
n.478T>G
c.77T>G (p.Leu26Arg)
2g.189575235A>GCA349989743SLC40A1c.197T>C (p.Leu66Pro)
n.638T>C
n.478T>C
c.77T>C (p.Leu26Pro)
2g.189575235A>TCA349989744SLC40A1c.197T>A (p.Leu66Gln)
n.638T>A
n.478T>A
c.77T>A (p.Leu26Gln)
2g.189575236G>ACA430367542SLC40A1c.196C>T (p.Leu66=)
n.637C>T
n.477C>T
c.76C>T (p.Leu26=)
2g.189575236G>CCA349989745SLC40A1c.196C>G (p.Leu66Val)
n.637C>G
n.477C>G
c.76C>G (p.Leu26Val)
2g.189575236G>TCA349989746SLC40A1c.196C>A (p.Leu66Met)
n.637C>A
n.477C>A
c.76C>A (p.Leu26Met)
 COSMIC
2g.189575237C>ACA430367545SLC40A1c.195G>T (p.Gly65=)
n.636G>T
n.476G>T
c.75G>T (p.Gly25=)
 gnomAD v4
2g.189575237C>GCA430367544SLC40A1c.195G>C (p.Gly65=)
n.636G>C
n.476G>C
c.75G>C (p.Gly25=)
2g.189575237C>TCA430367543SLC40A1c.195G>A (p.Gly65=)
n.636G>A
n.476G>A
c.75G>A (p.Gly25=)
2g.189575238C>ACA349989747SLC40A1c.194G>T (p.Gly65Val)
n.635G>T
n.475G>T
c.74G>T (p.Gly25Val)
2g.189575238C>GCA349989748SLC40A1c.194G>C (p.Gly65Ala)
n.635G>C
n.475G>C
c.74G>C (p.Gly25Ala)
2g.189575238C>TCA349989749SLC40A1c.194G>A (p.Gly65Glu)
n.635G>A
n.475G>A
c.74G>A (p.Gly25Glu)
2g.189575239C>ACA349989751SLC40A1c.193G>T (p.Gly65Trp)
n.634G>T
n.474G>T
c.73G>T (p.Gly25Trp)
2g.189575239C=CA1315653721SLC40A1c.193G= (p.Gly65=)
n.634G=
n.474G=
c.73G= (p.Gly25=)
2g.189575239C>GCA349989750SLC40A1c.193G>C (p.Gly65Arg)
n.634G>C
n.474G>C
c.73G>C (p.Gly25Arg)
2g.189575239C>TCA62904041SLC40A1c.193G>A (p.Gly65Arg)
n.634G>A
n.474G>A
c.73G>A (p.Gly25Arg)
 dbSNP gnomAD v4
2g.189575240G>ACA2024282SLC40A1c.192C>T (p.Tyr64=)
n.633C>T
n.473C>T
c.72C>T (p.Tyr24=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189575240G>CCA349989752SLC40A1c.192C>G (p.Tyr64Ter)
n.633C>G
n.473C>G
c.72C>G (p.Tyr24Ter)
2g.189575240G=CA1315653726SLC40A1c.192C= (p.Tyr64=)
n.633C=
n.473C=
c.72C= (p.Tyr24=)
2g.189575240G>TCA349989753SLC40A1c.192C>A (p.Tyr64Ter)
n.633C>A
n.473C>A
c.72C>A (p.Tyr24Ter)
2g.189575241T>ACA349989754SLC40A1c.191A>T (p.Tyr64Phe)
n.632A>T
n.472A>T
c.71A>T (p.Tyr24Phe)
2g.189575241T>CCA349989755SLC40A1c.191A>G (p.Tyr64Cys)
n.632A>G
n.472A>G
c.71A>G (p.Tyr24Cys)
 dbSNP
2g.189575241T>GCA349989756SLC40A1c.191A>C (p.Tyr64Ser)
n.632A>C
n.472A>C
c.71A>C (p.Tyr24Ser)
2g.189575241T=CA1315653731SLC40A1c.191A= (p.Tyr64=)
n.632A=
n.472A=
c.71A= (p.Tyr24=)
2g.189575242A=CA1315653736SLC40A1c.190T= (p.Tyr64=)
n.631T=
n.471T=
c.70T= (p.Tyr24=)
2g.189575242A>CCA349989757SLC40A1c.190T>G (p.Tyr64Asp)
n.631T>G
n.471T>G
c.70T>G (p.Tyr24Asp)
2g.189575242A>GCA349989758SLC40A1c.190T>C (p.Tyr64His)
n.631T>C
n.471T>C
c.70T>C (p.Tyr24His)
 ClinVar dbSNP
2g.189575242A>TCA349989759SLC40A1c.190T>A (p.Tyr64Asn)
n.631T>A
n.471T>A
c.70T>A (p.Tyr24Asn)
 dbSNP
2g.189575243G>ACA2024283SLC40A1c.189C>T (p.Val63=)
n.630C>T
n.470C>T
c.69C>T (p.Val23=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575243G>CCA430367546SLC40A1c.189C>G (p.Val63=)
n.630C>G
n.470C>G
c.69C>G (p.Val23=)
2g.189575243G=CA1315653744SLC40A1c.189C= (p.Val63=)
n.630C=
n.470C=
c.69C= (p.Val23=)
2g.189575243G>TCA430367547SLC40A1c.189C>A (p.Val63=)
n.630C>A
n.470C>A
c.69C>A (p.Val23=)
2g.189575244A>CCA349989762SLC40A1c.188T>G (p.Val63Gly)
n.629T>G
n.469T>G
c.68T>G (p.Val23Gly)
2g.189575244A>GCA349989761SLC40A1c.188T>C (p.Val63Ala)
n.629T>C
n.469T>C
c.68T>C (p.Val23Ala)
 ClinVar dbSNP
2g.189575244A>TCA349989760SLC40A1c.188T>A (p.Val63Asp)
n.629T>A
n.469T>A
c.68T>A (p.Val23Asp)
2g.189575245C>ACA349989763SLC40A1c.187G>T (p.Val63Phe)
n.628G>T
n.468G>T
c.67G>T (p.Val23Phe)
2g.189575245C>GCA349989764SLC40A1c.187G>C (p.Val63Leu)
n.628G>C
n.468G>C
c.67G>C (p.Val23Leu)
 gnomAD v4
2g.189575245C>TCA349989765SLC40A1c.187G>A (p.Val63Ile)
n.628G>A
n.468G>A
c.67G>A (p.Val23Ile)
 ClinVar
2g.189575246T>ACA430367548SLC40A1c.186A>T (p.Ala62=)
n.627A>T
n.467A>T
c.66A>T (p.Ala22=)
2g.189575246T>CCA2024284SLC40A1c.186A>G (p.Ala62=)
n.627A>G
n.467A>G
c.66A>G (p.Ala22=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575246T>GCA430367549SLC40A1c.186A>C (p.Ala62=)
n.627A>C
n.467A>C
c.66A>C (p.Ala22=)
2g.189575246T=CA1315653747SLC40A1c.186A= (p.Ala62=)
n.627A=
n.467A=
c.66A= (p.Ala22=)
2g.189575247G>ACA349989766SLC40A1c.185C>T (p.Ala62Val)
n.626C>T
n.466C>T
c.65C>T (p.Ala22Val)
 gnomAD v4
2g.189575247G>CCA349989767SLC40A1c.185C>G (p.Ala62Gly)
n.626C>G
n.466C>G
c.65C>G (p.Ala22Gly)
2g.189575247G>TCA349989768SLC40A1c.185C>A (p.Ala62Glu)
n.626C>A
n.466C>A
c.65C>A (p.Ala22Glu)
2g.189575248C>ACA349989769SLC40A1c.184G>T (p.Ala62Ser)
n.625G>T
n.465G>T
c.64G>T (p.Ala22Ser)
2g.189575248C>GCA349989770SLC40A1c.184G>C (p.Ala62Pro)
n.625G>C
n.465G>C
c.64G>C (p.Ala22Pro)
2g.189575248C>TCA349989771SLC40A1c.184G>A (p.Ala62Thr)
n.625G>A
n.465G>A
c.64G>A (p.Ala22Thr)
2g.189575249T>ACA430367550SLC40A1c.183A>T (p.Thr61=)
n.624A>T
n.464A>T
c.63A>T (p.Thr21=)
2g.189575249T>CCA430367551SLC40A1c.183A>G (p.Thr61=)
n.624A>G
n.464A>G
c.63A>G (p.Thr21=)
2g.189575249T>GCA430367552SLC40A1c.183A>C (p.Thr61=)
n.624A>C
n.464A>C
c.63A>C (p.Thr21=)
2g.189575250G>ACA349989772SLC40A1c.182C>T (p.Thr61Ile)
n.623C>T
n.463C>T
c.62C>T (p.Thr21Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.189575250G>CCA349989773SLC40A1c.182C>G (p.Thr61Arg)
n.623C>G
n.463C>G
c.62C>G (p.Thr21Arg)
2g.189575250G=CA1315653751SLC40A1c.182C= (p.Thr61=)
n.623C=
n.463C=
c.62C= (p.Thr21=)
2g.189575250G>TCA349989774SLC40A1c.182C>A (p.Thr61Lys)
n.623C>A
n.463C>A
c.62C>A (p.Thr21Lys)
 gnomAD v4
2g.189575251T>ACA349989775SLC40A1c.181A>T (p.Thr61Ser)
n.622A>T
n.462A>T
c.61A>T (p.Thr21Ser)
2g.189575251T>CCA349989777SLC40A1c.181A>G (p.Thr61Ala)
n.622A>G
n.462A>G
c.61A>G (p.Thr21Ala)
2g.189575251T>GCA349989776SLC40A1c.181A>C (p.Thr61Pro)
n.622A>C
n.462A>C
c.61A>C (p.Thr21Pro)
2g.189575252C>ACA349989778SLC40A1c.180G>T (p.Leu60Phe)
n.621G>T
n.461G>T
c.60G>T (p.Leu20Phe)
2g.189575252C>GCA349989779SLC40A1c.180G>C (p.Leu60Phe)
n.621G>C
n.461G>C
c.60G>C (p.Leu20Phe)
2g.189575252C>TCA430367553SLC40A1c.180G>A (p.Leu60=)
n.621G>A
n.461G>A
c.60G>A (p.Leu20=)
2g.189575253A=CA1315653754SLC40A1c.179T= (p.Leu60=)
n.620T=
n.460T=
c.59T= (p.Leu20=)
2g.189575253A>CCA349989780SLC40A1c.179T>G (p.Leu60Trp)
n.620T>G
n.460T>G
c.59T>G (p.Leu20Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189575253A>GCA349989781SLC40A1c.179T>C (p.Leu60Ser)
n.620T>C
n.460T>C
c.59T>C (p.Leu20Ser)
2g.189575253A>TCA349989782SLC40A1c.179T>A (p.Leu60Ter)
n.620T>A
n.460T>A
c.59T>A (p.Leu20Ter)
2g.189575254A=CA1315653758SLC40A1c.178T= (p.Leu60=)
n.619T=
n.459T=
c.58T= (p.Leu20=)
2g.189575254A>CCA349989783SLC40A1c.178T>G (p.Leu60Val)
n.619T>G
n.459T>G
c.58T>G (p.Leu20Val)
2g.189575254A>GCA430367554SLC40A1c.178T>C (p.Leu60=)
n.619T>C
n.459T>C
c.58T>C (p.Leu20=)
 dbSNP gnomAD v2 gnomAD v4
2g.189575254A>TCA349989784SLC40A1c.178T>A (p.Leu60Met)
n.619T>A
n.459T>A
c.58T>A (p.Leu20Met)
2g.189575255A>CCA430367556SLC40A1c.177T>G (p.Leu59=)
n.618T>G
n.458T>G
c.57T>G (p.Leu19=)
2g.189575255A>GCA430367557SLC40A1c.177T>C (p.Leu59=)
n.618T>C
n.458T>C
c.57T>C (p.Leu19=)
2g.189575255A>TCA430367555SLC40A1c.177T>A (p.Leu59=)
n.618T>A
n.458T>A
c.57T>A (p.Leu19=)
2g.189575256A=CA1315653761SLC40A1c.176T= (p.Leu59=)
n.617T=
n.457T=
c.56T= (p.Leu19=)
2g.189575256A>CCA62904042SLC40A1c.176T>G (p.Leu59Arg)
n.617T>G
n.457T>G
c.56T>G (p.Leu19Arg)
 dbSNP
2g.189575256A>GCA349989785SLC40A1c.176T>C (p.Leu59Pro)
n.617T>C
n.457T>C
c.56T>C (p.Leu19Pro)
2g.189575256A>TCA349989786SLC40A1c.176T>A (p.Leu59His)
n.617T>A
n.457T>A
c.56T>A (p.Leu19His)
2g.189575259_189575261delCA2662329091SLC40A1c.174_176del (p.Leu59del)
n.615_617del
n.455_457del
c.54_56del (p.Leu19del)
 gnomAD v4
2g.189575257G>ACA349989788SLC40A1c.175C>T (p.Leu59Phe)
n.616C>T
n.456C>T
c.55C>T (p.Leu19Phe)
 COSMIC
2g.189575257G>CCA349989789SLC40A1c.175C>G (p.Leu59Val)
n.616C>G
n.456C>G
c.55C>G (p.Leu19Val)
2g.189575257G>TCA349989787SLC40A1c.175C>A (p.Leu59Ile)
n.616C>A
n.456C>A
c.55C>A (p.Leu19Ile)
2g.189575258G>ACA430367558SLC40A1c.174C>T (p.Leu58=)
n.615C>T
n.455C>T
c.54C>T (p.Leu18=)
 COSMIC
2g.189575258G>CCA430367559SLC40A1c.174C>G (p.Leu58=)
n.615C>G
n.455C>G
c.54C>G (p.Leu18=)
2g.189575258G>TCA430367560SLC40A1c.174C>A (p.Leu58=)
n.615C>A
n.455C>A
c.54C>A (p.Leu18=)
2g.189575259A>CCA349989790SLC40A1c.173T>G (p.Leu58Arg)
n.614T>G
n.454T>G
c.53T>G (p.Leu18Arg)
2g.189575259A>GCA349989791SLC40A1c.173T>C (p.Leu58Pro)
n.614T>C
n.454T>C
c.53T>C (p.Leu18Pro)
2g.189575259A>TCA349989792SLC40A1c.173T>A (p.Leu58His)
n.614T>A
n.454T>A
c.53T>A (p.Leu18His)
2g.189575260G>ACA349989793SLC40A1c.172C>T (p.Leu58Phe)
n.613C>T
n.453C>T
c.52C>T (p.Leu18Phe)
 gnomAD v4
2g.189575260G>CCA349989794SLC40A1c.172C>G (p.Leu58Val)
n.613C>G
n.453C>G
c.52C>G (p.Leu18Val)
2g.189575260G>TCA349989795SLC40A1c.172C>A (p.Leu58Ile)
n.613C>A
n.453C>A
c.52C>A (p.Leu18Ile)
2g.189575261G>ACA430367561SLC40A1c.171C>T (p.Ser57=)
n.612C>T
n.452C>T
c.51C>T (p.Ser17=)
 gnomAD v4
2g.189575261G>CCA349989796SLC40A1c.171C>G (p.Ser57Arg)
n.612C>G
n.452C>G
c.51C>G (p.Ser17Arg)
2g.189575261G=CA1315653763SLC40A1c.171C= (p.Ser57=)
n.612C=
n.452C=
c.51C= (p.Ser17=)
2g.189575261G>TCA349989797SLC40A1c.171C>A (p.Ser57Arg)
n.612C>A
n.452C>A
c.51C>A (p.Ser17Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189575262C>ACA349989798SLC40A1c.170G>T (p.Ser57Ile)
n.611G>T
n.451G>T
c.50G>T (p.Ser17Ile)
2g.189575262C>GCA349989799SLC40A1c.170G>C (p.Ser57Thr)
n.611G>C
n.451G>C
c.50G>C (p.Ser17Thr)
 COSMIC
2g.189575262C>TCA349989800SLC40A1c.170G>A (p.Ser57Asn)
n.611G>A
n.451G>A
c.50G>A (p.Ser17Asn)
2g.189575263T>ACA349989801SLC40A1c.169A>T (p.Ser57Cys)
n.610A>T
n.450A>T
c.49A>T (p.Ser17Cys)
2g.189575263T>CCA349989802SLC40A1c.169A>G (p.Ser57Gly)
n.610A>G
n.450A>G
c.49A>G (p.Ser17Gly)
2g.189575263T>GCA349989803SLC40A1c.169A>C (p.Ser57Arg)
n.610A>C
n.450A>C
c.49A>C (p.Ser17Arg)
2g.189575264G>ACA430367562SLC40A1c.168C>T (p.Asn56=)
n.609C>T
n.449C>T
c.48C>T (p.Asn16=)
 gnomAD v4
2g.189575264G>CCA349989805SLC40A1c.168C>G (p.Asn56Lys)
n.609C>G
n.449C>G
c.48C>G (p.Asn16Lys)
2g.189575264G>TCA349989804SLC40A1c.168C>A (p.Asn56Lys)
n.609C>A
n.449C>A
c.48C>A (p.Asn16Lys)
2g.189575265T>ACA349989806SLC40A1c.167A>T (p.Asn56Ile)
n.608A>T
n.448A>T
c.47A>T (p.Asn16Ile)
2g.189575265T>CCA2024285SLC40A1c.167A>G (p.Asn56Ser)
n.608A>G
n.448A>G
c.47A>G (p.Asn16Ser)
 dbSNP ExAC gnomAD v2
2g.189575265T>GCA349989807SLC40A1c.167A>C (p.Asn56Thr)
n.608A>C
n.448A>C
c.47A>C (p.Asn16Thr)
2g.189575265T=CA1315653765SLC40A1c.167A= (p.Asn56=)
n.608A=
n.448A=
c.47A= (p.Asn16=)
2g.189575266T>ACA349989808SLC40A1c.166A>T (p.Asn56Tyr)
n.607A>T
c.166A>T
n.447A>T
c.46A>T (p.Asn16Tyr)
2g.189575266T>CCA349989809SLC40A1c.166A>G (p.Asn56Asp)
n.607A>G
c.166A>G
n.447A>G
c.46A>G (p.Asn16Asp)
2g.189575266T>GCA349989810SLC40A1c.166A>C (p.Asn56His)
n.607A>C
c.166A>C
n.447A>C
c.46A>C (p.Asn16His)
2g.189575267T>ACA430367563SLC40A1c.165A>T (p.Gly55=)
n.606A>T
n.446A>T
c.45A>T (p.Gly15=)
2g.189575267T>CCA430367565SLC40A1c.165A>G (p.Gly55=)
n.606A>G
n.446A>G
c.45A>G (p.Gly15=)
2g.189575267T>GCA430367564SLC40A1c.165A>C (p.Gly55=)
n.606A>C
n.446A>C
c.45A>C (p.Gly15=)
2g.189575268C>ACA349989813SLC40A1c.164G>T (p.Gly55Val)
n.605G>T
n.445G>T
c.44G>T (p.Gly15Val)
2g.189575268C>GCA349989811SLC40A1c.164G>C (p.Gly55Ala)
n.605G>C
n.445G>C
c.44G>C (p.Gly15Ala)
2g.189575268C>TCA349989812SLC40A1c.164G>A (p.Gly55Glu)
n.605G>A
n.445G>A
c.44G>A (p.Gly15Glu)
 gnomAD v4 COSMIC
2g.189575269C>ACA349989814SLC40A1c.163G>T (p.Gly55Ter)
n.604G>T
n.444G>T
c.43G>T (p.Gly15Ter)
2g.189575269C>GCA349989815SLC40A1c.163G>C (p.Gly55Arg)
n.604G>C
n.444G>C
c.43G>C (p.Gly15Arg)
2g.189575269C>TCA349989816SLC40A1c.163G>A (p.Gly55Arg)
n.604G>A
n.444G>A
c.43G>A (p.Gly15Arg)
 gnomAD v4
2g.189575270A>CCA349989817SLC40A1c.162T>G (p.Tyr54Ter)
n.603T>G
n.443T>G
c.42T>G (p.Tyr14Ter)
2g.189575270A>GCA430367566SLC40A1c.162T>C (p.Tyr54=)
n.603T>C
n.443T>C
c.42T>C (p.Tyr14=)
 gnomAD v4
2g.189575270A>TCA349989818SLC40A1c.162T>A (p.Tyr54Ter)
n.603T>A
n.443T>A
c.42T>A (p.Tyr14Ter)
2g.189575271T>ACA2024286SLC40A1c.161A>T (p.Tyr54Phe)
n.602A>T
n.442A>T
c.41A>T (p.Tyr14Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575271T>CCA62904043SLC40A1c.161A>G (p.Tyr54Cys)
n.602A>G
n.442A>G
c.41A>G (p.Tyr14Cys)
 dbSNP gnomAD v4
2g.189575271T>GCA349989819SLC40A1c.161A>C (p.Tyr54Ser)
n.602A>C
n.442A>C
c.41A>C (p.Tyr14Ser)
2g.189575271T=CA1315653771SLC40A1c.161A= (p.Tyr54=)
n.602A=
n.442A=
c.41A= (p.Tyr14=)
2g.189575272A>CCA349989820SLC40A1c.160T>G (p.Tyr54Asp)
n.601T>G
n.441T>G
c.40T>G (p.Tyr14Asp)
 gnomAD v4
2g.189575272A>GCA349989821SLC40A1c.160T>C (p.Tyr54His)
n.601T>C
n.441T>C
c.40T>C (p.Tyr14His)
2g.189575272A>TCA349989822SLC40A1c.160T>A (p.Tyr54Asn)
n.601T>A
n.441T>A
c.40T>A (p.Tyr14Asn)
2g.189575273G>ACA430367567SLC40A1c.159C>T (p.Leu53=)
n.600C>T
n.440C>T
c.39C>T (p.Leu13=)
2g.189575273G>CCA430367568SLC40A1c.159C>G (p.Leu53=)
n.600C>G
n.440C>G
c.39C>G (p.Leu13=)
2g.189575273G>TCA430367569SLC40A1c.159C>A (p.Leu53=)
n.600C>A
n.440C>A
c.39C>A (p.Leu13=)
2g.189575274A>CCA349989823SLC40A1c.158T>G (p.Leu53Arg)
n.599T>G
n.439T>G
c.38T>G (p.Leu13Arg)
2g.189575274A>GCA349989824SLC40A1c.158T>C (p.Leu53Pro)
n.599T>C
n.439T>C
c.38T>C (p.Leu13Pro)
2g.189575274A>TCA349989825SLC40A1c.158T>A (p.Leu53His)
n.599T>A
n.439T>A
c.38T>A (p.Leu13His)
2g.189575275G>ACA349989827SLC40A1c.157C>T (p.Leu53Phe)
n.598C>T
n.438C>T
c.37C>T (p.Leu13Phe)
 gnomAD v4
2g.189575275G>CCA349989826SLC40A1c.157C>G (p.Leu53Val)
n.598C>G
n.438C>G
c.37C>G (p.Leu13Val)
2g.189575275G=CA1315653775SLC40A1c.157C= (p.Leu53=)
n.598C=
n.438C=
c.37C= (p.Leu13=)
2g.189575275G>TCA62904044SLC40A1c.157C>A (p.Leu53Ile)
n.598C>A
n.438C>A
c.37C>A (p.Leu13Ile)
 dbSNP
2g.189575276C>ACA349989828SLC40A1c.156G>T (p.Glu52Asp)
n.597G>T
n.437G>T
c.36G>T (p.Glu12Asp)
2g.189575276C>GCA349989829SLC40A1c.156G>C (p.Glu52Asp)
n.597G>C
n.437G>C
c.36G>C (p.Glu12Asp)
 gnomAD v4
2g.189575276C>TCA430367570SLC40A1c.156G>A (p.Glu52=)
n.597G>A
n.437G>A
c.36G>A (p.Glu12=)
 gnomAD v4
2g.189575277T>ACA349989830SLC40A1c.155A>T (p.Glu52Val)
n.596A>T
n.436A>T
c.35A>T (p.Glu12Val)
2g.189575277T>CCA349989831SLC40A1c.155A>G (p.Glu52Gly)
n.596A>G
n.436A>G
c.35A>G (p.Glu12Gly)
2g.189575277T>GCA349989832SLC40A1c.155A>C (p.Glu52Ala)
n.596A>C
n.436A>C
c.35A>C (p.Glu12Ala)
2g.189575278C>ACA349989833SLC40A1c.154G>T (p.Glu52Ter)
n.595G>T
n.435G>T
c.34G>T (p.Glu12Ter)
2g.189575278C>GCA349989835SLC40A1c.154G>C (p.Glu52Gln)
n.595G>C
n.435G>C
c.34G>C (p.Glu12Gln)
2g.189575278C>TCA349989834SLC40A1c.154G>A (p.Glu52Lys)
n.595G>A
n.435G>A
c.34G>A (p.Glu12Lys)
2g.189575279T>ACA430367571SLC40A1c.153A>T (p.Val51=)
n.594A>T
n.434A>T
c.33A>T (p.Val11=)
2g.189575279T>CCA430367572SLC40A1c.153A>G (p.Val51=)
n.594A>G
n.434A>G
c.33A>G (p.Val11=)
2g.189575279T>GCA430367573SLC40A1c.153A>C (p.Val51=)
n.594A>C
n.434A>C
c.33A>C (p.Val11=)
 dbSNP
2g.189575279T=CA1315653777SLC40A1c.153A= (p.Val51=)
n.594A=
n.434A=
c.33A= (p.Val11=)
2g.189575280A>CCA349989836SLC40A1c.152T>G (p.Val51Gly)
n.593T>G
n.433T>G
c.32T>G (p.Val11Gly)
2g.189575280A>GCA349989837SLC40A1c.152T>C (p.Val51Ala)
n.593T>C
n.433T>C
c.32T>C (p.Val11Ala)
2g.189575280A>TCA349989838SLC40A1c.152T>A (p.Val51Glu)
n.593T>A
n.433T>A
c.32T>A (p.Val11Glu)
2g.189575281C>ACA349989839SLC40A1c.151G>T (p.Val51Leu)
n.592G>T
n.432G>T
c.31G>T (p.Val11Leu)
 gnomAD v4
2g.189575281C>GCA349989840SLC40A1c.151G>C (p.Val51Leu)
n.592G>C
n.432G>C
c.31G>C (p.Val11Leu)
2g.189575281C>TCA349989841SLC40A1c.151G>A (p.Val51Ile)
n.592G>A
n.432G>A
c.31G>A (p.Val11Ile)
2g.189575282C>ACA430367574SLC40A1c.150G>T (p.Leu50=)
n.591G>T
n.431G>T
c.30G>T (p.Leu10=)
2g.189575282C=CA1315653780SLC40A1c.150G= (p.Leu50=)
n.591G=
n.431G=
c.30G= (p.Leu10=)
2g.189575282C>GCA430367575SLC40A1c.150G>C (p.Leu50=)
n.591G>C
n.431G>C
c.30G>C (p.Leu10=)
2g.189575282C>TCA62904045SLC40A1c.150G>A (p.Leu50=)
n.591G>A
n.431G>A
c.30G>A (p.Leu10=)
 dbSNP gnomAD v4
2g.189575283A>CCA349989842SLC40A1c.149T>G (p.Leu50Arg)
n.590T>G
n.430T>G
c.29T>G (p.Leu10Arg)
2g.189575283A>GCA349989843SLC40A1c.149T>C (p.Leu50Pro)
n.590T>C
n.430T>C
c.29T>C (p.Leu10Pro)
2g.189575283A>TCA349989844SLC40A1c.149T>A (p.Leu50Gln)
n.590T>A
n.430T>A
c.29T>A (p.Leu10Gln)
2g.189575284G>ACA430367576SLC40A1c.148C>T (p.Leu50=)
n.589C>T
n.429C>T
c.28C>T (p.Leu10=)
2g.189575284G>CCA349989845SLC40A1c.148C>G (p.Leu50Val)
n.589C>G
n.429C>G
c.28C>G (p.Leu10Val)
2g.189575284G>TCA349989846SLC40A1c.148C>A (p.Leu50Met)
n.589C>A
n.429C>A
c.28C>A (p.Leu10Met)
2g.189575285A>CCA349989847SLC40A1c.147T>G (p.Phe49Leu)
n.588T>G
n.428T>G
c.27T>G (p.Phe9Leu)
2g.189575285A>GCA430367577SLC40A1c.147T>C (p.Phe49=)
n.588T>C
n.428T>C
c.27T>C (p.Phe9=)
2g.189575285A>TCA349989848SLC40A1c.147T>A (p.Phe49Leu)
n.588T>A
n.428T>A
c.27T>A (p.Phe9Leu)
2g.189575286A>CCA349989849SLC40A1c.146T>G (p.Phe49Cys)
n.587T>G
n.427T>G
c.26T>G (p.Phe9Cys)
2g.189575286A>GCA349989851SLC40A1c.146T>C (p.Phe49Ser)
n.587T>C
n.427T>C
c.26T>C (p.Phe9Ser)
2g.189575286A>TCA349989850SLC40A1c.146T>A (p.Phe49Tyr)
n.587T>A
n.427T>A
c.26T>A (p.Phe9Tyr)
2g.189575286_189575288delinsAACCA1315653785SLC40A1c.144_146delinsGTT (p.Val48=)
n.585_587delinsGTT
n.425_427delinsGTT
c.24_26delinsGTT (p.Val8=)
2g.189575287A>CCA349989852SLC40A1c.145T>G (p.Phe49Val)
n.586T>G
n.426T>G
c.25T>G (p.Phe9Val)
2g.189575287A>GCA349989854SLC40A1c.145T>C (p.Phe49Leu)
n.586T>C
n.426T>C
c.25T>C (p.Phe9Leu)
 ClinVar gnomAD v4
2g.189575287A>TCA349989853SLC40A1c.145T>A (p.Phe49Ile)
n.586T>A
n.426T>A
c.25T>A (p.Phe9Ile)
2g.189575290_189575291delCA645519889SLC40A1c.144_145del (p.Phe49SerfsTer?)
n.585_586del
n.425_426del
c.24_25del (p.Phe9SerfsTer?)
 dbSNP COSMIC
2g.189575288C>ACA430367578SLC40A1c.144G>T (p.Val48=)
n.585G>T
n.425G>T
c.24G>T (p.Val8=)
2g.189575288C>GCA430367580SLC40A1c.144G>C (p.Val48=)
n.585G>C
n.425G>C
c.24G>C (p.Val8=)
2g.189575288C>TCA430367579SLC40A1c.144G>A (p.Val48=)
n.585G>A
n.425G>A
c.24G>A (p.Val8=)
2g.189575289A>CCA349989855SLC40A1c.143T>G (p.Val48Gly)
n.584T>G
n.424T>G
c.23T>G (p.Val8Gly)
2g.189575289A>GCA349989857SLC40A1c.143T>C (p.Val48Ala)
n.584T>C
n.424T>C
c.23T>C (p.Val8Ala)
2g.189575289A>TCA349989856SLC40A1c.143T>A (p.Val48Glu)
n.584T>A
n.424T>A
c.23T>A (p.Val8Glu)
2g.189575290C>ACA349989858SLC40A1c.142G>T (p.Val48Leu)
n.583G>T
n.423G>T
c.22G>T (p.Val8Leu)
 dbSNP gnomAD v2
2g.189575290C=CA1315653787SLC40A1c.142G= (p.Val48=)
n.583G=
n.423G=
c.22G= (p.Val8=)
2g.189575290C>GCA349989859SLC40A1c.142G>C (p.Val48Leu)
n.583G>C
n.423G>C
c.22G>C (p.Val8Leu)
2g.189575290C>TCA349989860SLC40A1c.142G>A (p.Val48Met)
n.583G>A
n.423G>A
c.22G>A (p.Val8Met)
 gnomAD v4
2g.189575291A>CCA430367581SLC40A1c.141T>G (p.Ser47=)
n.582T>G
n.422T>G
c.21T>G (p.Ser7=)
2g.189575291A>GCA430367582SLC40A1c.141T>C (p.Ser47=)
n.582T>C
n.422T>C
c.21T>C (p.Ser7=)
2g.189575291A>TCA430367583SLC40A1c.141T>A (p.Ser47=)
n.582T>A
n.422T>A
c.21T>A (p.Ser7=)
2g.189575292G>ACA349989861SLC40A1c.140C>T (p.Ser47Phe)
n.581C>T
n.421C>T
c.20C>T (p.Ser7Phe)
 ClinVar dbSNP
2g.189575292G>CCA349989862SLC40A1c.140C>G (p.Ser47Cys)
n.581C>G
n.421C>G
c.20C>G (p.Ser7Cys)
2g.189575292G>TCA349989863SLC40A1c.140C>A (p.Ser47Tyr)
n.581C>A
n.421C>A
c.20C>A (p.Ser7Tyr)
2g.189575293A=CA1315653789SLC40A1c.139T= (p.Ser47=)
n.580T=
n.420T=
c.19T= (p.Ser7=)
2g.189575293A>CCA349989864SLC40A1c.139T>G (p.Ser47Ala)
n.580T>G
n.420T>G
c.19T>G (p.Ser7Ala)
2g.189575293A>GCA349989865SLC40A1c.139T>C (p.Ser47Pro)
n.580T>C
n.420T>C
c.19T>C (p.Ser7Pro)
 ClinVar dbSNP
2g.189575293A>TCA349989866SLC40A1c.139T>A (p.Ser47Thr)
n.580T>A
n.420T>A
c.19T>A (p.Ser7Thr)
2g.189575294C>ACA430367584SLC40A1c.138G>T (p.Val46=)
n.579G>T
n.419G>T
c.18G>T (p.Val6=)
2g.189575294C=CA1315653791SLC40A1c.138G= (p.Val46=)
n.579G=
n.419G=
c.18G= (p.Val6=)
2g.189575294C>GCA430367585SLC40A1c.138G>C (p.Val46=)
n.579G>C
n.419G>C
c.18G>C (p.Val6=)
2g.189575294C>TCA2024287SLC40A1c.138G>A (p.Val46=)
n.579G>A
n.419G>A
c.18G>A (p.Val6=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189575295A=CA1315653794SLC40A1c.137T= (p.Val46=)
n.578T=
n.418T=
c.17T= (p.Val6=)
2g.189575295A>CCA349989867SLC40A1c.137T>G (p.Val46Gly)
n.578T>G
n.418T>G
c.17T>G (p.Val6Gly)
2g.189575295A>GCA2024288SLC40A1c.137T>C (p.Val46Ala)
n.578T>C
n.418T>C
c.17T>C (p.Val6Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575295A>TCA349989868SLC40A1c.137T>A (p.Val46Glu)
n.578T>A
n.418T>A
c.17T>A (p.Val6Glu)
2g.189575296C>ACA349989869SLC40A1c.136G>T (p.Val46Leu)
n.577G>T
n.417G>T
c.16G>T (p.Val6Leu)
2g.189575296C>GCA349989871SLC40A1c.136G>C (p.Val46Leu)
n.577G>C
n.417G>C
c.16G>C (p.Val6Leu)
2g.189575296C>TCA349989870SLC40A1c.136G>A (p.Val46Met)
n.577G>A
n.417G>A
c.16G>A (p.Val6Met)
2g.189575297C>ACA430367586SLC40A1c.135G>T (p.Ala45=)
n.576G>T
n.416G>T
c.15G>T (p.Ala5=)
 gnomAD v4
2g.189575297C=CA1315653796SLC40A1c.135G= (p.Ala45=)
n.576G=
n.416G=
c.15G= (p.Ala5=)
2g.189575297C>GCA430367587SLC40A1c.135G>C (p.Ala45=)
n.576G>C
n.416G>C
c.15G>C (p.Ala5=)
 gnomAD v4
2g.189575297C>TCA2024289SLC40A1c.135G>A (p.Ala45=)
n.576G>A
n.416G>A
c.15G>A (p.Ala5=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189575298G>ACA2024290SLC40A1c.134C>T (p.Ala45Val)
n.575C>T
n.415C>T
c.14C>T (p.Ala5Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189575298G>CCA349989872SLC40A1c.134C>G (p.Ala45Gly)
n.575C>G
n.415C>G
c.14C>G (p.Ala5Gly)
2g.189575298G=CA1315653798SLC40A1c.134C= (p.Ala45=)
n.575C=
n.415C=
c.14C= (p.Ala5=)
2g.189575298G>TCA349989873SLC40A1c.134C>A (p.Ala45Glu)
n.575C>A
n.415C>A
c.14C>A (p.Ala5Glu)
 ClinVar dbSNP
2g.189575299C>ACA349989874SLC40A1c.133G>T (p.Ala45Ser)
n.574G>T
n.414G>T
c.13G>T (p.Ala5Ser)
2g.189575299C>GCA349989875SLC40A1c.133G>C (p.Ala45Pro)
n.574G>C
n.414G>C
c.13G>C (p.Ala5Pro)
2g.189575299C>TCA349989876SLC40A1c.133G>A (p.Ala45Thr)
n.574G>A
n.414G>A
c.13G>A (p.Ala5Thr)
2g.189575300A>CCA349989877SLC40A1c.132T>G (p.Phe44Leu)
n.573T>G
n.413T>G
c.12T>G (p.Phe4Leu)
2g.189575300A>GCA430367588SLC40A1c.132T>C (p.Phe44=)
n.573T>C
n.413T>C
c.12T>C (p.Phe4=)
2g.189575300A>TCA349989878SLC40A1c.132T>A (p.Phe44Leu)
n.573T>A
n.413T>A
c.12T>A (p.Phe4Leu)
2g.189575302dupCA2662329092SLC40A1c.132dup (p.Ala45CysfsTer?)
n.573dup
n.413dup
c.12dup (p.Ala5CysfsTer?)
 gnomAD v4
2g.189575301A>CCA349989881SLC40A1c.131T>G (p.Phe44Cys)
n.572T>G
n.412T>G
c.11T>G (p.Phe4Cys)
2g.189575301A>GCA349989880SLC40A1c.131T>C (p.Phe44Ser)
n.572T>C
n.412T>C
c.11T>C (p.Phe4Ser)
2g.189575301A>TCA349989879SLC40A1c.131T>A (p.Phe44Tyr)
n.572T>A
n.412T>A
c.11T>A (p.Phe4Tyr)
2g.189575302A>CCA349989882SLC40A1c.130T>G (p.Phe44Val)
n.571T>G
n.411T>G
c.10T>G (p.Phe4Val)
2g.189575302A>GCA349989883SLC40A1c.130T>C (p.Phe44Leu)
n.571T>C
n.411T>C
c.10T>C (p.Phe4Leu)
2g.189575302A>TCA349989884SLC40A1c.130T>A (p.Phe44Ile)
n.571T>A
n.411T>A
c.10T>A (p.Phe4Ile)
2g.189575303G>ACA430367589SLC40A1c.129C>T (p.His43=)
n.570C>T
n.410C>T
c.9C>T (p.His3=)
2g.189575303G>CCA349989885SLC40A1c.129C>G (p.His43Gln)
n.570C>G
n.410C>G
c.9C>G (p.His3Gln)
2g.189575303G>TCA349989886SLC40A1c.129C>A (p.His43Gln)
n.570C>A
n.410C>A
c.9C>A (p.His3Gln)
2g.189575304T>ACA349989887SLC40A1c.128A>T (p.His43Leu)
n.569A>T
n.409A>T
c.8A>T (p.His3Leu)
2g.189575304T>CCA349989888SLC40A1c.128A>G (p.His43Arg)
n.569A>G
n.409A>G
c.8A>G (p.His3Arg)
2g.189575304T>GCA349989889SLC40A1c.128A>C (p.His43Pro)
n.569A>C
n.409A>C
c.8A>C (p.His3Pro)
2g.189575305G>ACA349989890SLC40A1c.127C>T (p.His43Tyr)
n.568C>T
n.408C>T
c.7C>T (p.His3Tyr)
2g.189575305G>CCA349989891SLC40A1c.127C>G (p.His43Asp)
n.568C>G
n.408C>G
c.7C>G (p.His3Asp)
2g.189575305G>TCA349989892SLC40A1c.127C>A (p.His43Asn)
n.568C>A
n.408C>A
c.7C>A (p.His3Asn)
2g.189575306C>ACA349989895SLC40A1c.126G>T (p.Trp42Cys)
n.567G>T
n.407G>T
c.6G>T (p.Trp2Cys)
2g.189575306C>GCA349989894SLC40A1c.126G>C (p.Trp42Cys)
n.567G>C
n.407G>C
c.6G>C (p.Trp2Cys)
2g.189575306C>TCA349989893SLC40A1c.126G>A (p.Trp42Ter)
n.567G>A
n.407G>A
c.6G>A (p.Trp2Ter)
 gnomAD v4
2g.189575307C>ACA349989896SLC40A1c.125G>T (p.Trp42Leu)
n.566G>T
n.406G>T
c.5G>T (p.Trp2Leu)
2g.189575307C>GCA349989897SLC40A1c.125G>C (p.Trp42Ser)
n.566G>C
n.406G>C
c.5G>C (p.Trp2Ser)
2g.189575307C>TCA349989898SLC40A1c.125G>A (p.Trp42Ter)
n.566G>A
n.406G>A
c.5G>A (p.Trp2Ter)
2g.189575308A>CCA349989899SLC40A1c.124T>G (p.Trp42Gly)
n.565T>G
n.405T>G
c.4T>G (p.Trp2Gly)
2g.189575308A>GCA349989900SLC40A1c.124T>C (p.Trp42Arg)
n.565T>C
n.405T>C
c.4T>C (p.Trp2Arg)
 gnomAD v4
2g.189575308A>TCA349989901SLC40A1c.124T>A (p.Trp42Arg)
n.565T>A
n.405T>A
c.4T>A (p.Trp2Arg)
2g.189575309C>ACA349989902SLC40A1c.123G>T (p.Met41Ile)
n.564G>T
n.404G>T
c.3G>T (p.Met1Ile)
2g.189575309C=CA1315653799SLC40A1c.123G= (p.Met41=)
n.564G=
n.404G=
c.3G= (p.Met1=)
2g.189575309C>GCA349989903SLC40A1c.123G>C (p.Met41Ile)
n.564G>C
n.404G>C
c.3G>C (p.Met1Ile)
2g.189575309C>TCA2024291SLC40A1c.123G>A (p.Met41Ile)
n.564G>A
n.404G>A
c.3G>A (p.Met1Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575310A>CCA349989904SLC40A1c.122T>G (p.Met41Arg)
n.563T>G
n.403T>G
c.2T>G (p.Met1Arg)
2g.189575310A>GCA349989905SLC40A1c.122T>C (p.Met41Thr)
n.563T>C
n.403T>C
c.2T>C (p.Met1Thr)
2g.189575310A>TCA349989906SLC40A1c.122T>A (p.Met41Lys)
n.563T>A
n.403T>A
c.2T>A (p.Met1Lys)
2g.189575311T>ACA349989909SLC40A1c.121A>T (p.Met41Leu)
n.562A>T
n.402A>T
c.1A>T (p.Met1Leu)
 gnomAD v4
2g.189575311T>CCA349989908SLC40A1c.121A>G (p.Met41Val)
n.562A>G
n.402A>G
c.1A>G (p.Met1Val)
2g.189575311T>GCA349989907SLC40A1c.121A>C (p.Met41Leu)
n.562A>C
n.402A>C
c.1A>C (p.Met1Leu)
2g.189575312C>ACA430367590SLC40A1c.120G>T (p.Arg40=)
n.561G>T
n.401G>T
c.-1G>T (n.-1G>T)
2g.189575312C=CA1315653801SLC40A1c.120G= (p.Arg40=)
n.561G=
n.401G=
c.-1G= (n.-1G=)
2g.189575312C>GCA430367592SLC40A1c.120G>C (p.Arg40=)
n.561G>C
n.401G>C
c.-1G>C (n.-1G>C)
2g.189575312C>TCA2024292SLC40A1c.120G>A (p.Arg40=)
n.561G>A
n.401G>A
c.-1G>A (n.-1G>A)
 dbSNP ExAC gnomAD v2
2g.189575313delCA430367591SLC40A1c.120del (p.Met41CysfsTer11)
n.561del
n.401del
c.-1del (n.-1del)
 COSMIC
2g.189575313C>ACA349989911SLC40A1c.119G>T (p.Arg40Leu)
n.560G>T
n.400G>T
c.-2G>T (n.-2G>T)
2g.189575313C=CA1315653803SLC40A1c.119G= (p.Arg40=)
n.560G=
n.400G=
c.-2G= (n.-2G=)
2g.189575313C>GCA349989910SLC40A1c.119G>C (p.Arg40Pro)
n.560G>C
n.400G>C
c.-2G>C (n.-2G>C)
2g.189575313C>TCA2024293SLC40A1c.119G>A (p.Arg40Gln)
n.560G>A
n.400G>A
c.-2G>A (n.-2G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189575314delCA2553788924SLC40A1c.118del (p.Arg40GlyfsTer12)
n.559del
n.399del
c.-3del (n.-3del)
2g.189575314G>ACA62904046SLC40A1c.118C>T (p.Arg40Trp)
n.559C>T
n.399C>T
c.-3C>T (n.-3C>T)
 dbSNP gnomAD v4
2g.189575314G>CCA349989912SLC40A1c.118C>G (p.Arg40Gly)
n.559C>G
n.399C>G
c.-3C>G (n.-3C>G)
 gnomAD v4
2g.189575314G=CA1315653805SLC40A1c.118C= (p.Arg40=)
n.559C=
n.399C=
c.-3C= (n.-3C=)
2g.189575314G>TCA430367593SLC40A1c.118C>A (p.Arg40=)
n.559C>A
n.399C>A
c.-3C>A (n.-3C>A)
2g.189575315A>CCA349989913SLC40A1c.117T>G (p.Asp39Glu)
n.558T>G
n.398T>G
c.-4T>G (n.-4T>G)
2g.189575315A>GCA430367594SLC40A1c.117T>C (p.Asp39=)
n.558T>C
n.398T>C
c.-4T>C (n.-4T>C)
2g.189575315A>TCA349989914SLC40A1c.117T>A (p.Asp39Glu)
n.558T>A
n.398T>A
c.-4T>A (n.-4T>A)
2g.189575316T>ACA349989915SLC40A1c.116A>T (p.Asp39Val)
n.557A>T
n.397A>T
c.-5A>T (n.-5A>T)
 gnomAD v4
2g.189575316T>CCA349989916SLC40A1c.116A>G (p.Asp39Gly)
n.557A>G
n.397A>G
c.-5A>G (n.-5A>G)
2g.189575316T>GCA349989917SLC40A1c.116A>C (p.Asp39Ala)
n.557A>C
n.397A>C
c.-5A>C (n.-5A>C)
2g.189575317C>ACA349989918SLC40A1c.115G>T (p.Asp39Tyr)
n.556G>T
n.396G>T
c.-6G>T (n.-6G>T)
2g.189575317C=CA1315653807SLC40A1c.115G= (p.Asp39=)
n.556G=
n.396G=
c.-6G= (n.-6G=)
2g.189575317C>GCA349989919SLC40A1c.115G>C (p.Asp39His)
n.556G>C
n.396G>C
c.-6G>C (n.-6G>C)
2g.189575317C>TCA349989920SLC40A1c.115G>A (p.Asp39Asn)
n.556G>A
n.396G>A
c.-6G>A (n.-6G>A)
 dbSNP gnomAD v4
2g.189575318T>ACA430367595SLC40A1c.114A>T (p.Gly38=)
n.555A>T
n.395A>T
c.-7A>T (n.-7A>T)
2g.189575318T>CCA430367596SLC40A1c.114A>G (p.Gly38=)
n.555A>G
n.395A>G
c.-7A>G (n.-7A>G)
2g.189575318T>GCA430367597SLC40A1c.114A>C (p.Gly38=)
n.555A>C
n.395A>C
c.-7A>C (n.-7A>C)
2g.189575319C>ACA349989923SLC40A1c.113G>T (p.Gly38Val)
n.554G>T
n.394G>T
c.-8G>T (n.-8G>T)
 gnomAD v4
2g.189575319C=CA1315653809SLC40A1c.113G= (p.Gly38=)
n.554G=
n.394G=
c.-8G= (n.-8G=)
2g.189575319C>GCA349989922SLC40A1c.113G>C (p.Gly38Ala)
n.554G>C
n.394G>C
c.-8G>C (n.-8G>C)
2g.189575319C>TCA349989921SLC40A1c.113G>A (p.Gly38Glu)
n.554G>A
n.394G>A
c.-8G>A (n.-8G>A)
2g.189575319_189575320insAGTTATTTCTTCA1315653811SLC40A1c.112_113insAAGAAATAACT (p.Gly38GlufsTer18)
n.553_554insAAGAAATAACT
n.393_394insAAGAAATAACT
c.-9_-8insAAGAAATAACT (n.-9_-8insAAGAAATAACT)
 dbSNP
2g.189575320C>ACA349989924SLC40A1c.112G>T (p.Gly38Ter)
n.553G>T
n.393G>T
c.-9G>T (n.-9G>T)
2g.189575320C>GCA349989925SLC40A1c.112G>C (p.Gly38Arg)
n.553G>C
n.393G>C
c.-9G>C (n.-9G>C)
2g.189575320C>TCA349989926SLC40A1c.112G>A (p.Gly38Arg)
n.553G>A
n.393G>A
c.-9G>A (n.-9G>A)
2g.189575321C>ACA349989927SLC40A1c.112-1G>T (n.112-1G>T)
n.553-1G>T
n.393-1G>T
c.-9-1G>T (n.-9-1G>T)
2g.189575321C>GCA349989928SLC40A1c.112-1G>C (n.112-1G>C)
n.553-1G>C
n.393-1G>C
c.-9-1G>C (n.-9-1G>C)
2g.189575321C>TCA349989929SLC40A1c.112-1G>A (n.112-1G>A)
n.553-1G>A
n.393-1G>A
c.-9-1G>A (n.-9-1G>A)
2g.189575322T>ACA349989930SLC40A1c.112-2A>T (n.112-2A>T)
n.553-2A>T
n.393-2A>T
c.-9-2A>T (n.-9-2A>T)
2g.189575322T>CCA349989931SLC40A1c.112-2A>G (n.112-2A>G)
n.553-2A>G
n.393-2A>G
c.-9-2A>G (n.-9-2A>G)
2g.189575322T>GCA62904047SLC40A1c.112-2A>C (n.112-2A>C)
n.553-2A>C
n.393-2A>C
c.-9-2A>C (n.-9-2A>C)
 dbSNP
2g.189575322T=CA1315653813SLC40A1c.112-2A= (n.112-2A=)
n.553-2A=
n.393-2A=
c.-9-2A= (n.-9-2A=)
2g.189575323T>GCA1315653815SLC40A1c.112-3A>C (n.112-3A>C)
n.553-3A>C
n.393-3A>C
c.-9-3A>C (n.-9-3A>C)
 dbSNP gnomAD v4
2g.189575323T=CA1315653816SLC40A1c.112-3A= (n.112-3A=)
n.553-3A=
n.393-3A=
c.-9-3A= (n.-9-3A=)
2g.189575324A>CCA2662329093SLC40A1c.112-4T>G (n.112-4T>G)
n.553-4T>G
n.393-4T>G
c.-9-4T>G (n.-9-4T>G)
 gnomAD v4
2g.189575327T>ACA2662329094SLC40A1c.112-7A>T (n.112-7A>T)
n.553-7A>T
n.393-7A>T
c.-9-7A>T (n.-9-7A>T)
 gnomAD v4
2g.189575327T>CCA762277323SLC40A1c.112-7A>G (n.112-7A>G)
n.553-7A>G
n.393-7A>G
c.-9-7A>G (n.-9-7A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189575327T>GCA2024294SLC40A1c.112-7A>C (n.112-7A>C)
n.553-7A>C
n.393-7A>C
c.-9-7A>C (n.-9-7A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575327T=CA1315653817SLC40A1c.112-7A= (n.112-7A=)
n.553-7A=
n.393-7A=
c.-9-7A= (n.-9-7A=)
2g.189575333G>ACA762277326SLC40A1c.112-13C>T (n.112-13C>T)
n.553-13C>T
n.393-13C>T
c.-9-13C>T (n.-9-13C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189575333G>CCA2662329095SLC40A1c.112-13C>G (n.112-13C>G)
n.553-13C>G
n.393-13C>G
c.-9-13C>G (n.-9-13C>G)
 gnomAD v4
2g.189575333G=CA1315653819SLC40A1c.112-13C= (n.112-13C=)
n.553-13C=
n.393-13C=
c.-9-13C= (n.-9-13C=)
2g.189575334A=CA1315653821SLC40A1c.112-14T= (n.112-14T=)
n.553-14T=
n.393-14T=
c.-9-14T= (n.-9-14T=)
2g.189575334A>GCA62904048SLC40A1c.112-14T>C (n.112-14T>C)
n.553-14T>C
n.393-14T>C
c.-9-14T>C (n.-9-14T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189575335G>CCA2662329096SLC40A1c.112-15C>G (n.112-15C>G)
n.553-15C>G
n.393-15C>G
c.-9-15C>G (n.-9-15C>G)
 gnomAD v4
2g.189575335G=CA1315653823SLC40A1c.112-15C= (n.112-15C=)
n.553-15C=
n.393-15C=
c.-9-15C= (n.-9-15C=)
2g.189575335G>TCA2024295SLC40A1c.112-15C>A (n.112-15C>A)
n.553-15C>A
n.393-15C>A
c.-9-15C>A (n.-9-15C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched