Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189575164T>ACA349989601SLC40A1c.268A>T (p.Lys90Ter)
n.709A>T
n.549A>T
c.148A>T (p.Lys50Ter)
2g.189575164T>CCA349989602SLC40A1c.268A>G (p.Lys90Glu)
n.709A>G
n.549A>G
c.148A>G (p.Lys50Glu)
2g.189575164T>GCA349989603SLC40A1c.268A>C (p.Lys90Gln)
n.709A>C
n.549A>C
c.148A>C (p.Lys50Gln)
 COSMIC
2g.189575165A=CA1315653590SLC40A1c.267T= (p.Leu89=)
n.708T=
n.548T=
c.147T= (p.Leu49=)
2g.189575165A>CCA430367488SLC40A1c.267T>G (p.Leu89=)
n.708T>G
n.548T>G
c.147T>G (p.Leu49=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189575165A>GCA430367486SLC40A1c.267T>C (p.Leu89=)
n.708T>C
n.548T>C
c.147T>C (p.Leu49=)
2g.189575165A>TCA430367487SLC40A1c.267T>A (p.Leu89=)
n.708T>A
n.548T>A
c.147T>A (p.Leu49=)
2g.189575166A=CA1315653595SLC40A1c.266T= (p.Leu89=)
n.707T=
n.547T=
c.146T= (p.Leu49=)
2g.189575166A>CCA349989604SLC40A1c.266T>G (p.Leu89Arg)
n.707T>G
n.547T>G
c.146T>G (p.Leu49Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.189575166A>GCA349989605SLC40A1c.266T>C (p.Leu89Pro)
n.707T>C
n.547T>C
c.146T>C (p.Leu49Pro)
 gnomAD v4
2g.189575166A>TCA349989606SLC40A1c.266T>A (p.Leu89His)
n.707T>A
n.547T>A
c.146T>A (p.Leu49His)
2g.189575167G>ACA349989607SLC40A1c.265C>T (p.Leu89Phe)
n.706C>T
n.546C>T
c.145C>T (p.Leu49Phe)
 dbSNP gnomAD v4
2g.189575167G>CCA349989608SLC40A1c.265C>G (p.Leu89Val)
n.706C>G
n.546C>G
c.145C>G (p.Leu49Val)
2g.189575167G=CA1315653598SLC40A1c.265C= (p.Leu89=)
n.706C=
n.546C=
c.145C= (p.Leu49=)
2g.189575167G>TCA349989609SLC40A1c.265C>A (p.Leu89Ile)
n.706C>A
n.546C>A
c.145C>A (p.Leu49Ile)
2g.189575168T>ACA349989610SLC40A1c.264A>T (p.Arg88Ser)
n.705A>T
n.545A>T
c.144A>T (p.Arg48Ser)
2g.189575168T>CCA62904033SLC40A1c.264A>G (p.Arg88=)
n.705A>G
n.545A>G
c.144A>G (p.Arg48=)
 dbSNP
2g.189575168T>GCA349989611SLC40A1c.264A>C (p.Arg88Ser)
n.705A>C
n.545A>C
c.144A>C (p.Arg48Ser)
2g.189575168T=CA1315653601SLC40A1c.264A= (p.Arg88=)
n.705A=
n.545A=
c.144A= (p.Arg48=)
2g.189575169C>ACA349989613SLC40A1c.263G>T (p.Arg88Ile)
n.704G>T
n.544G>T
c.143G>T (p.Arg48Ile)
2g.189575169C=CA1315653602SLC40A1c.263G= (p.Arg88=)
n.704G=
n.544G=
c.143G= (p.Arg48=)
2g.189575169C>GCA16604003SLC40A1c.263G>C (p.Arg88Thr)
n.704G>C
n.544G>C
c.143G>C (p.Arg48Thr)
 ClinVar dbSNP
2g.189575169C>TCA349989612SLC40A1c.263G>A (p.Arg88Lys)
n.704G>A
n.544G>A
c.143G>A (p.Arg48Lys)
2g.189575170T>ACA349989614SLC40A1c.262A>T (p.Arg88Ter)
n.703A>T
n.543A>T
c.142A>T (p.Arg48Ter)
2g.189575170T>CCA215957SLC40A1c.262A>G (p.Arg88Gly)
n.703A>G
n.543A>G
c.142A>G (p.Arg48Gly)
 ClinVar dbSNP gnomAD v4
2g.189575170T>GCA430367489SLC40A1c.262A>C (p.Arg88=)
n.703A>C
n.543A>C
c.142A>C (p.Arg48=)
2g.189575170T=CA1315653605SLC40A1c.262A= (p.Arg88=)
n.703A=
n.543A=
c.142A= (p.Arg48=)
2g.189575171A=CA1315653606SLC40A1c.261T= (p.Ala87=)
n.702T=
n.542T=
c.141T= (p.Ala47=)
2g.189575171A>CCA430367491SLC40A1c.261T>G (p.Ala87=)
n.702T>G
n.542T>G
c.141T>G (p.Ala47=)
2g.189575171A>GCA430367490SLC40A1c.261T>C (p.Ala87=)
n.702T>C
n.542T>C
c.141T>C (p.Ala47=)
 dbSNP gnomAD v2 gnomAD v4
2g.189575171A>TCA430367492SLC40A1c.261T>A (p.Ala87=)
n.702T>A
n.542T>A
c.141T>A (p.Ala47=)
2g.189575172G>ACA62904034SLC40A1c.260C>T (p.Ala87Val)
n.701C>T
n.541C>T
c.140C>T (p.Ala47Val)
 dbSNP gnomAD v3 gnomAD v4
2g.189575172G>CCA349989616SLC40A1c.260C>G (p.Ala87Gly)
n.701C>G
n.541C>G
c.140C>G (p.Ala47Gly)
2g.189575172G=CA1315653627SLC40A1c.260C= (p.Ala87=)
n.701C=
n.541C=
c.140C= (p.Ala47=)
2g.189575172G>TCA349989615SLC40A1c.260C>A (p.Ala87Asp)
n.701C>A
n.541C>A
c.140C>A (p.Ala47Asp)
2g.189575173C>ACA349989617SLC40A1c.259G>T (p.Ala87Ser)
n.700G>T
n.540G>T
c.139G>T (p.Ala47Ser)
2g.189575173C=CA1315653628SLC40A1c.259G= (p.Ala87=)
n.700G=
n.540G=
c.139G= (p.Ala47=)
2g.189575173C>GCA349989618SLC40A1c.259G>C (p.Ala87Pro)
n.700G>C
n.540G>C
c.139G>C (p.Ala47Pro)
2g.189575173C>TCA2024278SLC40A1c.259G>A (p.Ala87Thr)
n.700G>A
n.540G>A
c.139G>A (p.Ala47Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575174A>CCA349989619SLC40A1c.258T>G (p.Asn86Lys)
n.699T>G
n.539T>G
c.138T>G (p.Asn46Lys)
2g.189575174A>GCA430367493SLC40A1c.258T>C (p.Asn86=)
n.699T>C
n.539T>C
c.138T>C (p.Asn46=)
2g.189575174A>TCA349989620SLC40A1c.258T>A (p.Asn86Lys)
n.699T>A
n.539T>A
c.138T>A (p.Asn46Lys)
2g.189575175T>ACA349989621SLC40A1c.257A>T (p.Asn86Ile)
n.698A>T
n.538A>T
c.137A>T (p.Asn46Ile)
2g.189575175T>CCA349989622SLC40A1c.257A>G (p.Asn86Ser)
n.698A>G
n.538A>G
c.137A>G (p.Asn46Ser)
 dbSNP
2g.189575175T>GCA349989623SLC40A1c.257A>C (p.Asn86Thr)
n.698A>C
n.538A>C
c.137A>C (p.Asn46Thr)
2g.189575175T=CA1315653632SLC40A1c.257A= (p.Asn86=)
n.698A=
n.538A=
c.137A= (p.Asn46=)
2g.189575175_189575176dupCA2542067699SLC40A1c.256_257dup (p.Asn86LysfsTer26)
n.697_698dup
n.537_538dup
c.136_137dup (p.Asn46LysfsTer26)
2g.189575176T>ACA349989624SLC40A1c.256A>T (p.Asn86Tyr)
n.697A>T
n.537A>T
c.136A>T (p.Asn46Tyr)
2g.189575176T>CCA349989626SLC40A1c.256A>G (p.Asn86Asp)
n.697A>G
n.537A>G
c.136A>G (p.Asn46Asp)
2g.189575176T>GCA349989625SLC40A1c.256A>C (p.Asn86His)
n.697A>C
n.537A>C
c.136A>C (p.Asn46His)
 gnomAD v4
2g.189575176T=CA1315653636SLC40A1c.256A= (p.Asn86=)
n.697A=
n.537A=
c.136A= (p.Asn46=)
2g.189575176_189575177insTTCAGCA538918049SLC40A1c.255_256insCTGAA (p.Asn86LeufsTer27)
n.696_697insCTGAA
n.536_537insCTGAA
c.135_136insCTGAA (p.Asn46LeufsTer27)
 dbSNP gnomAD v2
2g.189575177C>ACA349989627SLC40A1c.255G>T (p.Lys85Asn)
n.696G>T
n.536G>T
c.135G>T (p.Lys45Asn)
 gnomAD v4
2g.189575177C=CA1315653639SLC40A1c.255G= (p.Lys85=)
n.696G=
n.536G=
c.135G= (p.Lys45=)
2g.189575177C>GCA349989628SLC40A1c.255G>C (p.Lys85Asn)
n.696G>C
n.536G>C
c.135G>C (p.Lys45Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189575177C>TCA430367494SLC40A1c.255G>A (p.Lys85=)
n.696G>A
n.536G>A
c.135G>A (p.Lys45=)
2g.189575177_189575178insAGCTCTGAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCATCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTACA2541588586SLC40A1c.254_255insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGATGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCTCAGAGCT (p.Lys85AsnfsTer46)
n.695_696insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGATGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCTCAGAGCT
n.535_536insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGATGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCTCAGAGCT
c.134_135insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGATGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCTCAGAGCT (p.Lys45AsnfsTer46)
2g.189575178T>ACA349989629SLC40A1c.254A>T (p.Lys85Met)
n.695A>T
n.535A>T
c.134A>T (p.Lys45Met)
2g.189575178T>CCA349989630SLC40A1c.254A>G (p.Lys85Arg)
n.695A>G
n.535A>G
c.134A>G (p.Lys45Arg)
 gnomAD v4
2g.189575178T>GCA349989631SLC40A1c.254A>C (p.Lys85Thr)
n.695A>C
n.535A>C
c.134A>C (p.Lys45Thr)
2g.189575178T=CA1315653643SLC40A1c.254A= (p.Lys85=)
n.695A=
n.535A=
c.134A= (p.Lys45=)
2g.189575178_189575179insCCA538918050SLC40A1c.253_254insG (p.Lys85ArgfsTer4)
n.694_695insG
n.534_535insG
c.133_134insG (p.Lys45ArgfsTer4)
 dbSNP gnomAD v2
2g.189575179T>ACA349989632SLC40A1c.253A>T (p.Lys85Ter)
n.694A>T
n.534A>T
c.133A>T (p.Lys45Ter)
2g.189575179T>CCA349989634SLC40A1c.253A>G (p.Lys85Glu)
n.694A>G
n.534A>G
c.133A>G (p.Lys45Glu)
2g.189575179T>GCA349989633SLC40A1c.253A>C (p.Lys85Gln)
n.694A>C
n.534A>C
c.133A>C (p.Lys45Gln)
2g.189575180G>ACA430367495SLC40A1c.252C>T (p.Asp84=)
n.693C>T
n.533C>T
c.132C>T (p.Asp44=)
2g.189575180G>CCA349989635SLC40A1c.252C>G (p.Asp84Glu)
n.693C>G
n.533C>G
c.132C>G (p.Asp44Glu)
2g.189575180G>TCA349989636SLC40A1c.252C>A (p.Asp84Glu)
n.693C>A
n.533C>A
c.132C>A (p.Asp44Glu)
2g.189575180_189575181insAGGTCAGCATCATCATAAGCAGGAGAAGGTGTTGGGATAGTACCTGTGAATGAGATAACACCTTCATTTGAGATACTAATATCCTTACCTGCTTTATAAGTTTTACCTCCTGAGCTATTACA538918051SLC40A1c.251_252insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT (p.Asp84_Lys85insAsnSerSerGlyGlyLysThrTyrLysAlaGlyLysAspIleSerIleSerAsnGluGlyValIleSerPheThrGlyThrIleProThrProSerProAlaTyrAspAspAlaAspLeu)
n.692_693insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT
n.532_533insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT
c.131_132insTAATAGCTCAGGAGGTAAAACTTATAAAGCAGGTAAGGATATTAGTATCTCAAATGAAGGTGTTATCTCATTCACAGGTACTATCCCAACACCTTCTCCTGCTTATGATGATGCTGACCT (p.Asp44_Lys45insAsnSerSerGlyGlyLysThrTyrLysAlaGlyLysAspIleSerIleSerAsnGluGlyValIleSerPheThrGlyThrIleProThrProSerProAlaTyrAspAspAlaAspLeu)
 gnomAD v2
2g.189575181T>ACA349989637SLC40A1c.251A>T (p.Asp84Val)
n.692A>T
n.532A>T
c.131A>T (p.Asp44Val)
2g.189575181T>CCA349989638SLC40A1c.251A>G (p.Asp84Gly)
n.692A>G
n.532A>G
c.131A>G (p.Asp44Gly)
2g.189575181T>GCA349989639SLC40A1c.251A>C (p.Asp84Ala)
n.692A>C
n.532A>C
c.131A>C (p.Asp44Ala)
2g.189575182C>ACA349989640SLC40A1c.250G>T (p.Asp84Tyr)
n.691G>T
n.531G>T
c.130G>T (p.Asp44Tyr)
 COSMIC
2g.189575182C>GCA349989641SLC40A1c.250G>C (p.Asp84His)
n.691G>C
n.531G>C
c.130G>C (p.Asp44His)
2g.189575182C>TCA349989642SLC40A1c.250G>A (p.Asp84Asn)
n.691G>A
n.531G>A
c.130G>A (p.Asp44Asn)
2g.189575183C>ACA430367496SLC40A1c.249G>T (p.Val83=)
n.690G>T
n.530G>T
c.129G>T (p.Val43=)
2g.189575183C=CA1315653647SLC40A1c.249G= (p.Val83=)
n.690G=
n.530G=
c.129G= (p.Val43=)
2g.189575183C>GCA430367497SLC40A1c.249G>C (p.Val83=)
n.690G>C
n.530G>C
c.129G>C (p.Val43=)
2g.189575183C>TCA2024279SLC40A1c.249G>A (p.Val83=)
n.690G>A
n.530G>A
c.129G>A (p.Val43=)
 dbSNP ExAC gnomAD v2
2g.189575184A=CA1315653651SLC40A1c.248T= (p.Val83=)
n.689T=
n.529T=
c.128T= (p.Val43=)
2g.189575184A>CCA349989643SLC40A1c.248T>G (p.Val83Gly)
n.689T>G
n.529T>G
c.128T>G (p.Val43Gly)
 dbSNP
2g.189575184A>GCA349989644SLC40A1c.248T>C (p.Val83Ala)
n.689T>C
n.529T>C
c.128T>C (p.Val43Ala)
 gnomAD v4
2g.189575184A>TCA349989645SLC40A1c.248T>A (p.Val83Glu)
n.689T>A
n.529T>A
c.128T>A (p.Val43Glu)
2g.189575185C>ACA349989646SLC40A1c.247G>T (p.Val83Leu)
n.688G>T
n.528G>T
c.127G>T (p.Val43Leu)
2g.189575185C>GCA349989648SLC40A1c.247G>C (p.Val83Leu)
n.688G>C
n.528G>C
c.127G>C (p.Val43Leu)
2g.189575185C>TCA349989647SLC40A1c.247G>A (p.Val83Met)
n.688G>A
n.528G>A
c.127G>A (p.Val43Met)
2g.189575186C>ACA349989649SLC40A1c.246G>T (p.Trp82Cys)
n.687G>T
n.527G>T
c.126G>T (p.Trp42Cys)
2g.189575186C>GCA349989650SLC40A1c.246G>C (p.Trp82Cys)
n.687G>C
n.527G>C
c.126G>C (p.Trp42Cys)
2g.189575186C>TCA349989651SLC40A1c.246G>A (p.Trp82Ter)
n.687G>A
n.527G>A
c.126G>A (p.Trp42Ter)
2g.189575187C>ACA349989652SLC40A1c.245G>T (p.Trp82Leu)
n.686G>T
n.526G>T
c.125G>T (p.Trp42Leu)
2g.189575187C>GCA349989653SLC40A1c.245G>C (p.Trp82Ser)
n.686G>C
n.526G>C
c.125G>C (p.Trp42Ser)
2g.189575187C>TCA349989654SLC40A1c.245G>A (p.Trp82Ter)
n.686G>A
n.526G>A
c.125G>A (p.Trp42Ter)
2g.189575188A=CA1315653653SLC40A1c.244T= (p.Trp82=)
n.685T=
n.525T=
c.124T= (p.Trp42=)
2g.189575188A>CCA349989657SLC40A1c.244T>G (p.Trp82Gly)
n.685T>G
n.525T>G
c.124T>G (p.Trp42Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.189575188A>GCA349989655SLC40A1c.244T>C (p.Trp82Arg)
n.685T>C
n.525T>C
c.124T>C (p.Trp42Arg)
2g.189575188A>TCA349989656SLC40A1c.244T>A (p.Trp82Arg)
n.685T>A
n.525T>A
c.124T>A (p.Trp42Arg)
 gnomAD v4
2g.189575189G>ACA430367498SLC40A1c.243C>T (p.Asp81=)
n.684C>T
n.524C>T
c.123C>T (p.Asp41=)
 gnomAD v4
2g.189575189G>CCA349989658SLC40A1c.243C>G (p.Asp81Glu)
n.684C>G
n.524C>G
c.123C>G (p.Asp41Glu)
2g.189575189G>TCA349989659SLC40A1c.243C>A (p.Asp81Glu)
n.684C>A
n.524C>A
c.123C>A (p.Asp41Glu)
2g.189575190T>ACA349989660SLC40A1c.242A>T (p.Asp81Val)
n.683A>T
n.523A>T
c.122A>T (p.Asp41Val)
 dbSNP
2g.189575190T>CCA349989661SLC40A1c.242A>G (p.Asp81Gly)
n.683A>G
n.523A>G
c.122A>G (p.Asp41Gly)
2g.189575190T>GCA349989662SLC40A1c.242A>C (p.Asp81Ala)
n.683A>C
n.523A>C
c.122A>C (p.Asp41Ala)
2g.189575190T=CA1315653656SLC40A1c.242A= (p.Asp81=)
n.683A=
n.523A=
c.122A= (p.Asp41=)
2g.189575191C>ACA349989663SLC40A1c.241G>T (p.Asp81Tyr)
n.682G>T
n.522G>T
c.121G>T (p.Asp41Tyr)
2g.189575191C=CA1315653660SLC40A1c.241G= (p.Asp81=)
n.682G=
n.522G=
c.121G= (p.Asp41=)
2g.189575191C>GCA349989665SLC40A1c.241G>C (p.Asp81His)
n.682G>C
n.522G>C
c.121G>C (p.Asp41His)
 dbSNP
2g.189575191C>TCA349989664SLC40A1c.241G>A (p.Asp81Asn)
n.682G>A
n.522G>A
c.121G>A (p.Asp41Asn)
2g.189575192A>CCA430367501SLC40A1c.240T>G (p.Gly80=)
n.681T>G
n.521T>G
c.120T>G (p.Gly40=)
2g.189575192A>GCA430367500SLC40A1c.240T>C (p.Gly80=)
n.681T>C
n.521T>C
c.120T>C (p.Gly40=)
2g.189575192A>TCA430367499SLC40A1c.240T>A (p.Gly80=)
n.681T>A
n.521T>A
c.120T>A (p.Gly40=)
2g.189575193C>ACA117527SLC40A1c.239G>T (p.Gly80Val)
n.680G>T
n.520G>T
c.119G>T (p.Gly40Val)
 ClinVar dbSNP
2g.189575193C=CA1315653665SLC40A1c.239G= (p.Gly80=)
n.680G=
n.520G=
c.119G= (p.Gly40=)
2g.189575193C>GCA349989666SLC40A1c.239G>C (p.Gly80Ala)
n.680G>C
n.520G>C
c.119G>C (p.Gly40Ala)
2g.189575193C>TCA349989667SLC40A1c.239G>A (p.Gly80Asp)
n.680G>A
n.520G>A
c.119G>A (p.Gly40Asp)
2g.189575194C>ACA349989668SLC40A1c.238G>T (p.Gly80Cys)
n.679G>T
n.519G>T
c.118G>T (p.Gly40Cys)
 ClinVar
2g.189575194C=CA1315653669SLC40A1c.238G= (p.Gly80=)
n.679G=
n.519G=
c.118G= (p.Gly40=)
2g.189575194C>GCA349989669SLC40A1c.238G>C (p.Gly80Arg)
n.679G>C
n.519G>C
c.118G>C (p.Gly40Arg)
2g.189575194C>TCA62904035SLC40A1c.238G>A (p.Gly80Ser)
n.679G>A
n.519G>A
c.118G>A (p.Gly40Ser)
 ClinVar dbSNP gnomAD v4
2g.189575195G>ACA2024280SLC40A1c.237C>T (p.Ile79=)
n.678C>T
n.518C>T
c.117C>T (p.Ile39=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189575195G>CCA349989670SLC40A1c.237C>G (p.Ile79Met)
n.678C>G
n.518C>G
c.117C>G (p.Ile39Met)
 dbSNP gnomAD v3 gnomAD v4
2g.189575195G=CA1315653674SLC40A1c.237C= (p.Ile79=)
n.678C=
n.518C=
c.117C= (p.Ile39=)
2g.189575195G>TCA430367502SLC40A1c.237C>A (p.Ile79=)
n.678C>A
n.518C>A
c.117C>A (p.Ile39=)
2g.189575196A>CCA349989671SLC40A1c.236T>G (p.Ile79Ser)
n.677T>G
n.517T>G
c.116T>G (p.Ile39Ser)
2g.189575196A>GCA349989672SLC40A1c.236T>C (p.Ile79Thr)
n.677T>C
n.517T>C
c.116T>C (p.Ile39Thr)
2g.189575196A>TCA349989673SLC40A1c.236T>A (p.Ile79Asn)
n.677T>A
n.517T>A
c.116T>A (p.Ile39Asn)
2g.189575197T>ACA349989676SLC40A1c.235A>T (p.Ile79Phe)
n.676A>T
n.516A>T
c.115A>T (p.Ile39Phe)
2g.189575197T>CCA349989674SLC40A1c.235A>G (p.Ile79Val)
n.676A>G
n.516A>G
c.115A>G (p.Ile39Val)
 ClinVar dbSNP gnomAD v4
2g.189575197T>GCA349989675SLC40A1c.235A>C (p.Ile79Leu)
n.676A>C
n.516A>C
c.115A>C (p.Ile39Leu)
2g.189575197T=CA1315653679SLC40A1c.235A= (p.Ile79=)
n.676A=
n.516A=
c.115A= (p.Ile39=)
2g.189575198G>ACA430367503SLC40A1c.234C>T (p.Ile78=)
n.675C>T
n.515C>T
c.114C>T (p.Ile38=)
 dbSNP
2g.189575198G>CCA349989677SLC40A1c.234C>G (p.Ile78Met)
n.675C>G
n.515C>G
c.114C>G (p.Ile38Met)
2g.189575198G=CA1315653684SLC40A1c.234C= (p.Ile78=)
n.675C=
n.515C=
c.114C= (p.Ile38=)
2g.189575198G>TCA430367504SLC40A1c.234C>A (p.Ile78=)
n.675C>A
n.515C>A
c.114C>A (p.Ile38=)
2g.189575199A>CCA349989678SLC40A1c.233T>G (p.Ile78Ser)
n.674T>G
n.514T>G
c.113T>G (p.Ile38Ser)
2g.189575199A>GCA349989679SLC40A1c.233T>C (p.Ile78Thr)
n.674T>C
n.514T>C
c.113T>C (p.Ile38Thr)
2g.189575199A>TCA349989680SLC40A1c.233T>A (p.Ile78Asn)
n.674T>A
n.514T>A
c.113T>A (p.Ile38Asn)
2g.189575200T>ACA349989681SLC40A1c.232A>T (p.Ile78Phe)
n.673A>T
n.513A>T
c.112A>T (p.Ile38Phe)
2g.189575200T>CCA349989682SLC40A1c.232A>G (p.Ile78Val)
n.673A>G
n.513A>G
c.112A>G (p.Ile38Val)
 gnomAD v4
2g.189575200T>GCA349989683SLC40A1c.232A>C (p.Ile78Leu)
n.673A>C
n.513A>C
c.112A>C (p.Ile38Leu)
2g.189575201G>ACA430367505SLC40A1c.231C>T (p.Ala77=)
n.672C>T
n.512C>T
c.111C>T (p.Ala37=)
2g.189575201G>CCA430367506SLC40A1c.231C>G (p.Ala77=)
n.672C>G
n.512C>G
c.111C>G (p.Ala37=)
2g.189575201G>TCA430367507SLC40A1c.231C>A (p.Ala77=)
n.672C>A
n.512C>A
c.111C>A (p.Ala37=)
2g.189575202G>ACA349989684SLC40A1c.230C>T (p.Ala77Val)
n.671C>T
n.511C>T
c.110C>T (p.Ala37Val)
2g.189575202G>CCA349989685SLC40A1c.230C>G (p.Ala77Gly)
n.671C>G
n.511C>G
c.110C>G (p.Ala37Gly)
 COSMIC
2g.189575202G=CA1315653689SLC40A1c.230C= (p.Ala77=)
n.671C=
n.511C=
c.110C= (p.Ala37=)
2g.189575202G>TCA117517SLC40A1c.230C>A (p.Ala77Asp)
n.671C>A
n.511C>A
c.110C>A (p.Ala37Asp)
 ClinVar dbSNP
2g.189575203C>ACA349989686SLC40A1c.229G>T (p.Ala77Ser)
n.670G>T
n.510G>T
c.109G>T (p.Ala37Ser)
2g.189575203C=CA1315653694SLC40A1c.229G= (p.Ala77=)
n.670G=
n.510G=
c.109G= (p.Ala37=)
2g.189575203C>GCA349989687SLC40A1c.229G>C (p.Ala77Pro)
n.670G>C
n.510G>C
c.109G>C (p.Ala37Pro)
2g.189575203C>TCA62904036SLC40A1c.229G>A (p.Ala77Thr)
n.670G>A
n.510G>A
c.109G>A (p.Ala37Thr)
 dbSNP
2g.189575204T>ACA430367508SLC40A1c.228A>T (p.Gly76=)
n.669A>T
n.509A>T
c.108A>T (p.Gly36=)
2g.189575204T>CCA430367509SLC40A1c.228A>G (p.Gly76=)
n.669A>G
n.509A>G
c.108A>G (p.Gly36=)
 dbSNP gnomAD v2 gnomAD v4
2g.189575204T>GCA430367510SLC40A1c.228A>C (p.Gly76=)
n.669A>C
n.509A>C
c.108A>C (p.Gly36=)
2g.189575204T=CA1315653696SLC40A1c.228A= (p.Gly76=)
n.669A=
n.509A=
c.108A= (p.Gly36=)
2g.189575205C>ACA349989690SLC40A1c.227G>T (p.Gly76Val)
n.668G>T
n.508G>T
c.107G>T (p.Gly36Val)
2g.189575205C>GCA349989689SLC40A1c.227G>C (p.Gly76Ala)
n.668G>C
n.508G>C
c.107G>C (p.Gly36Ala)
2g.189575205C>TCA349989688SLC40A1c.227G>A (p.Gly76Glu)
n.668G>A
n.508G>A
c.107G>A (p.Gly36Glu)
 COSMIC
2g.189575206C>ACA349989691SLC40A1c.226G>T (p.Gly76Ter)
n.667G>T
n.507G>T
c.106G>T (p.Gly36Ter)
2g.189575206C>GCA349989692SLC40A1c.226G>C (p.Gly76Arg)
n.667G>C
n.507G>C
c.106G>C (p.Gly36Arg)
2g.189575206C>TCA349989693SLC40A1c.226G>A (p.Gly76Arg)
n.667G>A
n.507G>A
c.106G>A (p.Gly36Arg)
2g.189575207C>ACA430367511SLC40A1c.225G>T (p.Leu75=)
n.666G>T
n.506G>T
c.105G>T (p.Leu35=)
2g.189575207C>GCA430367512SLC40A1c.225G>C (p.Leu75=)
n.666G>C
n.506G>C
c.105G>C (p.Leu35=)
 COSMIC
2g.189575207C>TCA430367513SLC40A1c.225G>A (p.Leu75=)
n.666G>A
n.506G>A
c.105G>A (p.Leu35=)
2g.189575208A=CA1315653699SLC40A1c.224T= (p.Leu75=)
n.665T=
n.505T=
c.104T= (p.Leu35=)
2g.189575208A>CCA349989694SLC40A1c.224T>G (p.Leu75Arg)
n.665T>G
n.505T>G
c.104T>G (p.Leu35Arg)
2g.189575208A>GCA62904037SLC40A1c.224T>C (p.Leu75Pro)
n.665T>C
n.505T>C
c.104T>C (p.Leu35Pro)
 dbSNP
2g.189575208A>TCA349989695SLC40A1c.224T>A (p.Leu75Gln)
n.665T>A
n.505T>A
c.104T>A (p.Leu35Gln)
2g.189575209G>ACA430367514SLC40A1c.223C>T (p.Leu75=)
n.664C>T
n.504C>T
c.103C>T (p.Leu35=)
2g.189575209G>CCA349989696SLC40A1c.223C>G (p.Leu75Val)
n.664C>G
n.504C>G
c.103C>G (p.Leu35Val)
 COSMIC
2g.189575209G>TCA349989697SLC40A1c.223C>A (p.Leu75Met)
n.664C>A
n.504C>A
c.103C>A (p.Leu35Met)
2g.189575210G>ACA430367515SLC40A1c.222C>T (p.Val74=)
n.663C>T
n.503C>T
c.102C>T (p.Val34=)
2g.189575210G>CCA430367516SLC40A1c.222C>G (p.Val74=)
n.663C>G
n.503C>G
c.102C>G (p.Val34=)
2g.189575210G>TCA430367517SLC40A1c.222C>A (p.Val74=)
n.663C>A
n.503C>A
c.102C>A (p.Val34=)
2g.189575211A>CCA349989698SLC40A1c.221T>G (p.Val74Gly)
n.662T>G
n.502T>G
c.101T>G (p.Val34Gly)
2g.189575211A>GCA349989699SLC40A1c.221T>C (p.Val74Ala)
n.662T>C
n.502T>C
c.101T>C (p.Val34Ala)
2g.189575211A>TCA349989700SLC40A1c.221T>A (p.Val74Asp)
n.662T>A
n.502T>A
c.101T>A (p.Val34Asp)
2g.189575212C>ACA349989701SLC40A1c.220G>T (p.Val74Phe)
n.661G>T
n.501G>T
c.100G>T (p.Val34Phe)
2g.189575212C>GCA349989702SLC40A1c.220G>C (p.Val74Leu)
n.661G>C
n.501G>C
c.100G>C (p.Val34Leu)
2g.189575212C>TCA349989703SLC40A1c.220G>A (p.Val74Ile)
n.661G>A
n.501G>A
c.100G>A (p.Val34Ile)
2g.189575213C>ACA430367518SLC40A1c.219G>T (p.Leu73=)
n.660G>T
n.500G>T
c.99G>T (p.Leu33=)
2g.189575213C>GCA430367520SLC40A1c.219G>C (p.Leu73=)
n.660G>C
n.500G>C
c.99G>C (p.Leu33=)
2g.189575213C>TCA430367519SLC40A1c.219G>A (p.Leu73=)
n.660G>A
n.500G>A
c.99G>A (p.Leu33=)
2g.189575214A>CCA349989705SLC40A1c.218T>G (p.Leu73Arg)
n.659T>G
n.499T>G
c.98T>G (p.Leu33Arg)
2g.189575214A>GCA349989706SLC40A1c.218T>C (p.Leu73Pro)
n.659T>C
n.499T>C
c.98T>C (p.Leu33Pro)
2g.189575214A>TCA349989704SLC40A1c.218T>A (p.Leu73Gln)
n.659T>A
n.499T>A
c.98T>A (p.Leu33Gln)
2g.189575215G>ACA430367521SLC40A1c.217C>T (p.Leu73=)
n.658C>T
n.498C>T
c.97C>T (p.Leu33=)
2g.189575215G>CCA349989707SLC40A1c.217C>G (p.Leu73Val)
n.658C>G
n.498C>G
c.97C>G (p.Leu33Val)
 COSMIC
2g.189575215G>TCA349989708SLC40A1c.217C>A (p.Leu73Met)
n.658C>A
n.498C>A
c.97C>A (p.Leu33Met)
2g.189575216A>CCA430367522SLC40A1c.216T>G (p.Val72=)
n.657T>G
n.497T>G
c.96T>G (p.Val32=)
2g.189575216A>GCA430367523SLC40A1c.216T>C (p.Val72=)
n.657T>C
n.497T>C
c.96T>C (p.Val32=)
2g.189575216A>TCA430367524SLC40A1c.216T>A (p.Val72=)
n.657T>A
n.497T>A
c.96T>A (p.Val32=)
2g.189575217A>CCA349989709SLC40A1c.215T>G (p.Val72Gly)
n.656T>G
n.496T>G
c.95T>G (p.Val32Gly)
2g.189575217A>GCA349989710SLC40A1c.215T>C (p.Val72Ala)
n.656T>C
n.496T>C
c.95T>C (p.Val32Ala)
2g.189575217A>TCA349989711SLC40A1c.215T>A (p.Val72Asp)
n.656T>A
n.496T>A
c.95T>A (p.Val32Asp)
2g.189575218C>ACA349989713SLC40A1c.214G>T (p.Val72Phe)
n.655G>T
n.495G>T
c.94G>T (p.Val32Phe)
 dbSNP
2g.189575218C=CA1315653703SLC40A1c.214G= (p.Val72=)
n.655G=
n.495G=
c.94G= (p.Val32=)
2g.189575218C>GCA62904038SLC40A1c.214G>C (p.Val72Leu)
n.655G>C
n.495G>C
c.94G>C (p.Val32Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189575218C>TCA349989712SLC40A1c.214G>A (p.Val72Ile)
n.655G>A
n.495G>A
c.94G>A (p.Val32Ile)
2g.189575219A>CCA430367525SLC40A1c.213T>G (p.Ser71=)
n.654T>G
n.494T>G
c.93T>G (p.Ser31=)
2g.189575219A>GCA430367526SLC40A1c.213T>C (p.Ser71=)
n.654T>C
n.494T>C
c.93T>C (p.Ser31=)
 gnomAD v4
2g.189575219A>TCA430367527SLC40A1c.213T>A (p.Ser71=)
n.654T>A
n.494T>A
c.93T>A (p.Ser31=)
2g.189575220G>ACA349989714SLC40A1c.212C>T (p.Ser71Phe)
n.653C>T
n.493C>T
c.92C>T (p.Ser31Phe)
 ClinVar dbSNP
2g.189575220G>CCA62904039SLC40A1c.212C>G (p.Ser71Cys)
n.653C>G
n.493C>G
c.92C>G (p.Ser31Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189575220G=CA1315653706SLC40A1c.212C= (p.Ser71=)
n.653C=
n.493C=
c.92C= (p.Ser31=)
2g.189575220G>TCA349989715SLC40A1c.212C>A (p.Ser71Tyr)
n.653C>A
n.493C>A
c.92C>A (p.Ser31Tyr)
2g.189575221A=CA1315653709SLC40A1c.211T= (p.Ser71=)
n.652T=
n.492T=
c.91T= (p.Ser31=)
2g.189575221A>CCA349989716SLC40A1c.211T>G (p.Ser71Ala)
n.652T>G
n.492T>G
c.91T>G (p.Ser31Ala)
 dbSNP gnomAD v2
2g.189575221A>GCA349989717SLC40A1c.211T>C (p.Ser71Pro)
n.652T>C
n.492T>C
c.91T>C (p.Ser31Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.189575221A>TCA349989718SLC40A1c.211T>A (p.Ser71Thr)
n.652T>A
n.492T>A
c.91T>A (p.Ser31Thr)
 gnomAD v4
2g.189575222C>ACA430367528SLC40A1c.210G>T (p.Gly70=)
n.651G>T
n.491G>T
c.90G>T (p.Gly30=)
2g.189575222C>GCA430367529SLC40A1c.210G>C (p.Gly70=)
n.651G>C
n.491G>C
c.90G>C (p.Gly30=)
2g.189575222C>TCA430367530SLC40A1c.210G>A (p.Gly70=)
n.651G>A
n.491G>A
c.90G>A (p.Gly30=)
2g.189575223C>ACA349989719SLC40A1c.209G>T (p.Gly70Val)
n.650G>T
n.490G>T
c.89G>T (p.Gly30Val)
2g.189575223C>GCA349989721SLC40A1c.209G>C (p.Gly70Ala)
n.650G>C
n.490G>C
c.89G>C (p.Gly30Ala)
2g.189575223C>TCA349989720SLC40A1c.209G>A (p.Gly70Glu)
n.650G>A
n.490G>A
c.89G>A (p.Gly30Glu)
2g.189575224C>ACA349989722SLC40A1c.208G>T (p.Gly70Trp)
n.649G>T
n.489G>T
c.88G>T (p.Gly30Trp)
2g.189575224C>GCA349989723SLC40A1c.208G>C (p.Gly70Arg)
n.649G>C
n.489G>C
c.88G>C (p.Gly30Arg)
2g.189575224C>TCA349989724SLC40A1c.208G>A (p.Gly70Arg)
n.649G>A
n.489G>A
c.88G>A (p.Gly30Arg)
2g.189575225T>ACA430367531SLC40A1c.207A>T (p.Ala69=)
n.648A>T
n.488A>T
c.87A>T (p.Ala29=)
2g.189575225T>CCA2024281SLC40A1c.207A>G (p.Ala69=)
n.648A>G
n.488A>G
c.87A>G (p.Ala29=)
 dbSNP ExAC gnomAD v2
2g.189575225T>GCA430367532SLC40A1c.207A>C (p.Ala69=)
n.648A>C
n.488A>C
c.87A>C (p.Ala29=)
 gnomAD v4
2g.189575225T=CA1315653712SLC40A1c.207A= (p.Ala69=)
n.648A=
n.488A=
c.87A= (p.Ala29=)
2g.189575226G>ACA349989725SLC40A1c.206C>T (p.Ala69Val)
n.647C>T
n.487C>T
c.86C>T (p.Ala29Val)
2g.189575226G>CCA349989726SLC40A1c.206C>G (p.Ala69Gly)
n.647C>G
n.487C>G
c.86C>G (p.Ala29Gly)
2g.189575226G>TCA349989727SLC40A1c.206C>A (p.Ala69Glu)
n.647C>A
n.487C>A
c.86C>A (p.Ala29Glu)
2g.189575227C>ACA349989728SLC40A1c.205G>T (p.Ala69Ser)
n.646G>T
n.486G>T
c.85G>T (p.Ala29Ser)
 ClinVar
2g.189575227C>GCA349989729SLC40A1c.205G>C (p.Ala69Pro)
n.646G>C
n.486G>C
c.85G>C (p.Ala29Pro)
2g.189575227C>TCA349989730SLC40A1c.205G>A (p.Ala69Thr)
n.646G>A
n.486G>A
c.85G>A (p.Ala29Thr)
2g.189575228C>ACA430367533SLC40A1c.204G>T (p.Val68=)
n.645G>T
n.485G>T
c.84G>T (p.Val28=)
2g.189575228C=CA1315653717SLC40A1c.204G= (p.Val68=)
n.645G=
n.485G=
c.84G= (p.Val28=)
2g.189575228C>GCA430367534SLC40A1c.204G>C (p.Val68=)
n.645G>C
n.485G>C
c.84G>C (p.Val28=)
2g.189575228C>TCA430367535SLC40A1c.204G>A (p.Val68=)
n.645G>A
n.485G>A
c.84G>A (p.Val28=)
 dbSNP gnomAD v2 gnomAD v4
2g.189575229A>CCA349989731SLC40A1c.203T>G (p.Val68Gly)
n.644T>G
n.484T>G
c.83T>G (p.Val28Gly)
2g.189575229A>GCA349989733SLC40A1c.203T>C (p.Val68Ala)
n.644T>C
n.484T>C
c.83T>C (p.Val28Ala)
2g.189575229A>TCA349989732SLC40A1c.203T>A (p.Val68Glu)
n.644T>A
n.484T>A
c.83T>A (p.Val28Glu)
2g.189575230C>ACA349989734SLC40A1c.202G>T (p.Val68Leu)
n.643G>T
n.483G>T
c.82G>T (p.Val28Leu)
2g.189575230C>GCA349989736SLC40A1c.202G>C (p.Val68Leu)
n.643G>C
n.483G>C
c.82G>C (p.Val28Leu)
 gnomAD v4
2g.189575230C>TCA349989735SLC40A1c.202G>A (p.Val68Met)
n.643G>A
n.483G>A
c.82G>A (p.Val28Met)
2g.189575231C>ACA430367536SLC40A1c.201G>T (p.Val67=)
n.642G>T
n.482G>T
c.81G>T (p.Val27=)
 gnomAD v4
2g.189575231C>GCA430367537SLC40A1c.201G>C (p.Val67=)
n.642G>C
n.482G>C
c.81G>C (p.Val27=)
2g.189575231C>TCA430367538SLC40A1c.201G>A (p.Val67=)
n.642G>A
n.482G>A
c.81G>A (p.Val27=)
2g.189575232A>CCA349989737SLC40A1c.200T>G (p.Val67Gly)
n.641T>G
n.481T>G
c.80T>G (p.Val27Gly)
2g.189575232A>GCA349989739SLC40A1c.200T>C (p.Val67Ala)
n.641T>C
n.481T>C
c.80T>C (p.Val27Ala)
2g.189575232A>TCA349989738SLC40A1c.200T>A (p.Val67Glu)
n.641T>A
n.481T>A
c.80T>A (p.Val27Glu)
2g.189575233C>ACA349989740SLC40A1c.199G>T (p.Val67Leu)
n.640G>T
n.480G>T
c.79G>T (p.Val27Leu)
2g.189575233C=CA1315653719SLC40A1c.199G= (p.Val67=)
n.640G=
n.480G=
c.79G= (p.Val27=)
2g.189575233C>GCA349989741SLC40A1c.199G>C (p.Val67Leu)
n.640G>C
n.480G>C
c.79G>C (p.Val27Leu)
2g.189575233C>TCA62904040SLC40A1c.199G>A (p.Val67Met)
n.640G>A
n.480G>A
c.79G>A (p.Val27Met)
 dbSNP gnomAD v2 gnomAD v4
2g.189575234C>ACA430367541SLC40A1c.198G>T (p.Leu66=)
n.639G>T
n.479G>T
c.78G>T (p.Leu26=)
2g.189575234C>GCA430367540SLC40A1c.198G>C (p.Leu66=)
n.639G>C
n.479G>C
c.78G>C (p.Leu26=)
2g.189575234C>TCA430367539SLC40A1c.198G>A (p.Leu66=)
n.639G>A
n.479G>A
c.78G>A (p.Leu26=)
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)

Number of alleles fetched