Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.28405231C>ACA026508SLC46A1c.466G>T (p.Asp156Tyr)
n.67+450G>T
n.520G>T
c.202G>T (p.Asp68Tyr)
c.244G>T (p.Asp82Tyr)
 ClinVar dbSNP gnomAD v4
17g.28405231C=CA2254288663SLC46A1c.466G= (p.Asp156=)
n.67+450G=
n.520G=
c.202G= (p.Asp68=)
c.244G= (p.Asp82=)
17g.28405231C>GCA398351591SLC46A1c.466G>C (p.Asp156His)
n.67+450G>C
n.520G>C
c.202G>C (p.Asp68His)
c.244G>C (p.Asp82His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28405231C>TCA398351595SLC46A1c.466G>A (p.Asp156Asn)
n.67+450G>A
n.520G>A
c.202G>A (p.Asp68Asn)
c.244G>A (p.Asp82Asn)
17g.28405232G>ACA499420460SLC46A1c.465C>T (p.Gly155=)
n.67+449C>T
n.519C>T
c.201C>T (p.Gly67=)
c.243C>T (p.Gly81=)
17g.28405232G>CCA499420462SLC46A1c.465C>G (p.Gly155=)
n.67+449C>G
n.519C>G
c.201C>G (p.Gly67=)
c.243C>G (p.Gly81=)
17g.28405232G>TCA499420466SLC46A1c.465C>A (p.Gly155=)
n.67+449C>A
n.519C>A
c.201C>A (p.Gly67=)
c.243C>A (p.Gly81=)
 gnomAD v4
17g.28405233C>ACA398351598SLC46A1c.464G>T (p.Gly155Val)
n.67+448G>T
n.518G>T
c.200G>T (p.Gly67Val)
c.242G>T (p.Gly81Val)
17g.28405233C>GCA398351602SLC46A1c.464G>C (p.Gly155Ala)
n.67+448G>C
n.518G>C
c.200G>C (p.Gly67Ala)
c.242G>C (p.Gly81Ala)
17g.28405233C>TCA398351604SLC46A1c.464G>A (p.Gly155Asp)
n.67+448G>A
n.518G>A
c.200G>A (p.Gly67Asp)
c.242G>A (p.Gly81Asp)
17g.28405234C>ACA398351607SLC46A1c.463G>T (p.Gly155Cys)
n.67+447G>T
n.517G>T
c.199G>T (p.Gly67Cys)
c.241G>T (p.Gly81Cys)
17g.28405234C=CA2254288664SLC46A1c.463G= (p.Gly155=)
n.67+447G=
n.517G=
c.199G= (p.Gly67=)
c.241G= (p.Gly81=)
17g.28405234C>GCA398351609SLC46A1c.463G>C (p.Gly155Arg)
n.67+447G>C
n.517G>C
c.199G>C (p.Gly67Arg)
c.241G>C (p.Gly81Arg)
17g.28405234C>TCA398351611SLC46A1c.463G>A (p.Gly155Ser)
n.67+447G>A
n.517G>A
c.199G>A (p.Gly67Ser)
c.241G>A (p.Gly81Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.28405235G>ACA8458326SLC46A1c.462C>T (p.Leu154=)
n.67+446C>T
n.516C>T
c.198C>T (p.Leu66=)
c.240C>T (p.Leu80=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28405235G>CCA499420480SLC46A1c.462C>G (p.Leu154=)
n.67+446C>G
n.516C>G
c.198C>G (p.Leu66=)
c.240C>G (p.Leu80=)
 dbSNP gnomAD v2 gnomAD v4
17g.28405235G=CA2254288665SLC46A1c.462C= (p.Leu154=)
n.67+446C=
n.516C=
c.198C= (p.Leu66=)
c.240C= (p.Leu80=)
17g.28405235G>TCA499420482SLC46A1c.462C>A (p.Leu154=)
n.67+446C>A
n.516C>A
c.198C>A (p.Leu66=)
c.240C>A (p.Leu80=)
 gnomAD v4
17g.28405236A>CCA398351634SLC46A1c.461T>G (p.Leu154Arg)
n.67+445T>G
n.515T>G
c.197T>G (p.Leu66Arg)
c.239T>G (p.Leu80Arg)
17g.28405236A>GCA398351618SLC46A1c.461T>C (p.Leu154Pro)
n.67+445T>C
n.515T>C
c.197T>C (p.Leu66Pro)
c.239T>C (p.Leu80Pro)
17g.28405236A>TCA398351627SLC46A1c.461T>A (p.Leu154His)
n.67+445T>A
n.515T>A
c.197T>A (p.Leu66His)
c.239T>A (p.Leu80His)
17g.28405237G>ACA398351636SLC46A1c.460C>T (p.Leu154Phe)
n.67+444C>T
n.514C>T
c.196C>T (p.Leu66Phe)
c.238C>T (p.Leu80Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28405237G>CCA398351638SLC46A1c.460C>G (p.Leu154Val)
n.67+444C>G
n.514C>G
c.196C>G (p.Leu66Val)
c.238C>G (p.Leu80Val)
 gnomAD v4
17g.28405237G=CA2254288666SLC46A1c.460C= (p.Leu154=)
n.67+444C=
n.514C=
c.196C= (p.Leu66=)
c.238C= (p.Leu80=)
17g.28405237G>TCA398351640SLC46A1c.460C>A (p.Leu154Ile)
n.67+444C>A
n.514C>A
c.196C>A (p.Leu66Ile)
c.238C>A (p.Leu80Ile)
17g.28405238G>ACA499420497SLC46A1c.459C>T (p.Leu153=)
n.67+443C>T
n.513C>T
c.195C>T (p.Leu65=)
c.237C>T (p.Leu79=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28405238G>CCA499420494SLC46A1c.459C>G (p.Leu153=)
n.67+443C>G
n.513C>G
c.195C>G (p.Leu65=)
c.237C>G (p.Leu79=)
17g.28405238G=CA2254288667SLC46A1c.459C= (p.Leu153=)
n.67+443C=
n.513C=
c.195C= (p.Leu65=)
c.237C= (p.Leu79=)
17g.28405238G>TCA499420491SLC46A1c.459C>A (p.Leu153=)
n.67+443C>A
n.513C>A
c.195C>A (p.Leu65=)
c.237C>A (p.Leu79=)
 gnomAD v4
17g.28405239A>CCA398351650SLC46A1c.458T>G (p.Leu153Arg)
n.67+442T>G
n.512T>G
c.194T>G (p.Leu65Arg)
c.236T>G (p.Leu79Arg)
 gnomAD v4
17g.28405239A>GCA398351646SLC46A1c.458T>C (p.Leu153Pro)
n.67+442T>C
n.512T>C
c.194T>C (p.Leu65Pro)
c.236T>C (p.Leu79Pro)
 gnomAD v4
17g.28405239A>TCA398351644SLC46A1c.458T>A (p.Leu153His)
n.67+442T>A
n.512T>A
c.194T>A (p.Leu65His)
c.236T>A (p.Leu79His)
17g.28405239_28405240delinsAGCA2254288668SLC46A1c.457_458delinsCT (p.Leu153=)
n.67+441_67+442delinsCT
n.511_512delinsCT
c.193_194delinsCT (p.Leu65=)
c.235_236delinsCT (p.Leu79=)
17g.28405240G>ACA398351654SLC46A1c.457C>T (p.Leu153Phe)
n.67+441C>T
n.511C>T
c.193C>T (p.Leu65Phe)
c.235C>T (p.Leu79Phe)
 gnomAD v4
17g.28405240G>CCA398351656SLC46A1c.457C>G (p.Leu153Val)
n.67+441C>G
n.511C>G
c.193C>G (p.Leu65Val)
c.235C>G (p.Leu79Val)
 dbSNP
17g.28405240G=CA2254288669SLC46A1c.457C= (p.Leu153=)
n.67+441C=
n.511C=
c.193C= (p.Leu65=)
c.235C= (p.Leu79=)
17g.28405240G>TCA398351660SLC46A1c.457C>A (p.Leu153Ile)
n.67+441C>A
n.511C>A
c.193C>A (p.Leu65Ile)
c.235C>A (p.Leu79Ile)
 gnomAD v4
17g.28405242delCA625774511SLC46A1c.457del (p.Leu153SerfsTer?)
n.67+441del
n.511del
c.193del (p.Leu65SerfsTer?)
c.235del (p.Leu79SerfsTer?)
 dbSNP gnomAD v2
17g.28405241G>ACA499420516SLC46A1c.456C>T (p.Ala152=)
n.67+440C>T
n.510C>T
c.192C>T (p.Ala64=)
c.234C>T (p.Ala78=)
 dbSNP gnomAD v2 gnomAD v4
17g.28405241G>CCA499420514SLC46A1c.456C>G (p.Ala152=)
n.67+440C>G
n.510C>G
c.192C>G (p.Ala64=)
c.234C>G (p.Ala78=)
17g.28405241G=CA2254288670SLC46A1c.456C= (p.Ala152=)
n.67+440C=
n.510C=
c.192C= (p.Ala64=)
c.234C= (p.Ala78=)
17g.28405241G>TCA499420512SLC46A1c.456C>A (p.Ala152=)
n.67+440C>A
n.510C>A
c.192C>A (p.Ala64=)
c.234C>A (p.Ala78=)
 gnomAD v4
17g.28405242G>ACA398351663SLC46A1c.455C>T (p.Ala152Val)
n.67+439C>T
n.509C>T
c.191C>T (p.Ala64Val)
c.233C>T (p.Ala78Val)
 gnomAD v4
17g.28405242G>CCA398351665SLC46A1c.455C>G (p.Ala152Gly)
n.67+439C>G
n.509C>G
c.191C>G (p.Ala64Gly)
c.233C>G (p.Ala78Gly)
17g.28405242G>TCA398351667SLC46A1c.455C>A (p.Ala152Asp)
n.67+439C>A
n.509C>A
c.191C>A (p.Ala64Asp)
c.233C>A (p.Ala78Asp)
17g.28405243C>ACA398351673SLC46A1c.454G>T (p.Ala152Ser)
n.67+438G>T
n.508G>T
c.190G>T (p.Ala64Ser)
c.232G>T (p.Ala78Ser)
 gnomAD v4
17g.28405243C>GCA398351683SLC46A1c.454G>C (p.Ala152Pro)
n.67+438G>C
n.508G>C
c.190G>C (p.Ala64Pro)
c.232G>C (p.Ala78Pro)
17g.28405243C>TCA398351680SLC46A1c.454G>A (p.Ala152Thr)
n.67+438G>A
n.508G>A
c.190G>A (p.Ala64Thr)
c.232G>A (p.Ala78Thr)
17g.28405244A>CCA398351689SLC46A1c.453T>G (p.Cys151Trp)
n.67+437T>G
n.507T>G
c.189T>G (p.Cys63Trp)
c.231T>G (p.Cys77Trp)
17g.28405244A>GCA499420529SLC46A1c.453T>C (p.Cys151=)
n.67+437T>C
n.507T>C
c.189T>C (p.Cys63=)
c.231T>C (p.Cys77=)
17g.28405244A>TCA398351690SLC46A1c.453T>A (p.Cys151Ter)
n.67+437T>A
n.507T>A
c.189T>A (p.Cys63Ter)
c.231T>A (p.Cys77Ter)
17g.28405245C>ACA398351693SLC46A1c.452G>T (p.Cys151Phe)
n.67+436G>T
n.506G>T
c.188G>T (p.Cys63Phe)
c.230G>T (p.Cys77Phe)
 gnomAD v4
17g.28405245C>GCA398351694SLC46A1c.452G>C (p.Cys151Ser)
n.67+436G>C
n.506G>C
c.188G>C (p.Cys63Ser)
c.230G>C (p.Cys77Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.28405245C>TCA398351697SLC46A1c.452G>A (p.Cys151Tyr)
n.67+436G>A
n.506G>A
c.188G>A (p.Cys63Tyr)
c.230G>A (p.Cys77Tyr)
17g.28405246A>CCA398351699SLC46A1c.451T>G (p.Cys151Gly)
n.67+435T>G
n.505T>G
c.187T>G (p.Cys63Gly)
c.229T>G (p.Cys77Gly)
17g.28405246A>GCA398351700SLC46A1c.451T>C (p.Cys151Arg)
n.67+435T>C
n.505T>C
c.187T>C (p.Cys63Arg)
c.229T>C (p.Cys77Arg)
17g.28405246A>TCA398351701SLC46A1c.451T>A (p.Cys151Ser)
n.67+435T>A
n.505T>A
c.187T>A (p.Cys63Ser)
c.229T>A (p.Cys77Ser)
17g.28405247A>CCA499420557SLC46A1c.450T>G (p.Leu150=)
n.67+434T>G
n.504T>G
c.186T>G (p.Leu62=)
c.228T>G (p.Leu76=)
17g.28405247A>GCA499420559SLC46A1c.450T>C (p.Leu150=)
n.67+434T>C
n.504T>C
c.186T>C (p.Leu62=)
c.228T>C (p.Leu76=)
17g.28405247A>TCA499420561SLC46A1c.450T>A (p.Leu150=)
n.67+434T>A
n.504T>A
c.186T>A (p.Leu62=)
c.228T>A (p.Leu76=)
17g.28405248A>CCA398351702SLC46A1c.449T>G (p.Leu150Arg)
n.67+433T>G
n.503T>G
c.185T>G (p.Leu62Arg)
c.227T>G (p.Leu76Arg)
17g.28405248A>GCA398351703SLC46A1c.449T>C (p.Leu150Pro)
n.67+433T>C
n.503T>C
c.185T>C (p.Leu62Pro)
c.227T>C (p.Leu76Pro)
17g.28405248A>TCA398351704SLC46A1c.449T>A (p.Leu150His)
n.67+433T>A
n.503T>A
c.185T>A (p.Leu62His)
c.227T>A (p.Leu76His)
17g.28405249G>ACA398351709SLC46A1c.448C>T (p.Leu150Phe)
n.67+432C>T
n.502C>T
c.184C>T (p.Leu62Phe)
c.226C>T (p.Leu76Phe)
17g.28405249G>CCA398351707SLC46A1c.448C>G (p.Leu150Val)
n.67+432C>G
n.502C>G
c.184C>G (p.Leu62Val)
c.226C>G (p.Leu76Val)
 gnomAD v4
17g.28405249G>TCA398351706SLC46A1c.448C>A (p.Leu150Ile)
n.67+432C>A
n.502C>A
c.184C>A (p.Leu62Ile)
c.226C>A (p.Leu76Ile)
 gnomAD v4
17g.28405250G>ACA499420572SLC46A1c.447C>T (p.Ile149=)
n.67+431C>T
n.501C>T
c.183C>T (p.Ile61=)
c.225C>T (p.Ile75=)
17g.28405250G>CCA398351711SLC46A1c.447C>G (p.Ile149Met)
n.67+431C>G
n.501C>G
c.183C>G (p.Ile61Met)
c.225C>G (p.Ile75Met)
17g.28405250G>TCA499420576SLC46A1c.447C>A (p.Ile149=)
n.67+431C>A
n.501C>A
c.183C>A (p.Ile61=)
c.225C>A (p.Ile75=)
 ClinVar
17g.28405251A=CA2254288671SLC46A1c.446T= (p.Ile149=)
n.67+430T=
n.500T=
c.182T= (p.Ile61=)
c.224T= (p.Ile75=)
17g.28405251A>CCA398351717SLC46A1c.446T>G (p.Ile149Ser)
n.67+430T>G
n.500T>G
c.182T>G (p.Ile61Ser)
c.224T>G (p.Ile75Ser)
17g.28405251A>GCA398351719SLC46A1c.446T>C (p.Ile149Thr)
n.67+430T>C
n.500T>C
c.182T>C (p.Ile61Thr)
c.224T>C (p.Ile75Thr)
17g.28405251A>TCA8458327SLC46A1c.446T>A (p.Ile149Asn)
n.67+430T>A
n.500T>A
c.182T>A (p.Ile61Asn)
c.224T>A (p.Ile75Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28405252T>ACA398351721SLC46A1c.445A>T (p.Ile149Phe)
n.67+429A>T
n.499A>T
c.181A>T (p.Ile61Phe)
c.223A>T (p.Ile75Phe)
17g.28405252T>CCA398351723SLC46A1c.445A>G (p.Ile149Val)
n.67+429A>G
n.499A>G
c.181A>G (p.Ile61Val)
c.223A>G (p.Ile75Val)
 gnomAD v4
17g.28405252T>GCA398351725SLC46A1c.445A>C (p.Ile149Leu)
n.67+429A>C
n.499A>C
c.181A>C (p.Ile61Leu)
c.223A>C (p.Ile75Leu)
17g.28405253G>ACA499420592SLC46A1c.444C>T (p.Arg148=)
n.67+428C>T
n.498C>T
c.180C>T (p.Arg60=)
c.222C>T (p.Arg74=)
 gnomAD v4
17g.28405253G>CCA499420594SLC46A1c.444C>G (p.Arg148=)
n.67+428C>G
n.498C>G
c.180C>G (p.Arg60=)
c.222C>G (p.Arg74=)
17g.28405253G>TCA499420596SLC46A1c.444C>A (p.Arg148=)
n.67+428C>A
n.498C>A
c.180C>A (p.Arg60=)
c.222C>A (p.Arg74=)
17g.28405254_28405255insACGAAGTAGCCGACGTGGAGCTGCAGCTGCACCACAAAAACGGACACTAGGGCCTGGAGCAGCAGGCCA2573153175SLC46A1c.444_445insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC (p.Ile149LeufsTer38)
n.67+428_67+429insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC
n.498_499insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC
c.180_181insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC (p.Ile61LeufsTer38)
c.222_223insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC (p.Ile75LeufsTer38)
 ClinVar dbSNP
17g.28405254C>ACA398351728SLC46A1c.443G>T (p.Arg148Leu)
n.67+427G>T
n.497G>T
c.179G>T (p.Arg60Leu)
c.221G>T (p.Arg74Leu)
17g.28405254C=CA2254288672SLC46A1c.443G= (p.Arg148=)
n.67+427G=
n.497G=
c.179G= (p.Arg60=)
c.221G= (p.Arg74=)
17g.28405254C>GCA398351730SLC46A1c.443G>C (p.Arg148Pro)
n.67+427G>C
n.497G>C
c.179G>C (p.Arg60Pro)
c.221G>C (p.Arg74Pro)
17g.28405254C>TCA398351736SLC46A1c.443G>A (p.Arg148His)
n.67+427G>A
n.497G>A
c.179G>A (p.Arg60His)
c.221G>A (p.Arg74His)
 dbSNP gnomAD v2 gnomAD v4
17g.28405255G>ACA398351738SLC46A1c.442C>T (p.Arg148Cys)
n.67+426C>T
n.496C>T
c.178C>T (p.Arg60Cys)
c.220C>T (p.Arg74Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.28405255G>CCA398351740SLC46A1c.442C>G (p.Arg148Gly)
n.67+426C>G
n.496C>G
c.178C>G (p.Arg60Gly)
c.220C>G (p.Arg74Gly)
17g.28405255G=CA2254288673SLC46A1c.442C= (p.Arg148=)
n.67+426C=
n.496C=
c.178C= (p.Arg60=)
c.220C= (p.Arg74=)
17g.28405255G>TCA398351743SLC46A1c.442C>A (p.Arg148Ser)
n.67+426C>A
n.496C>A
c.178C>A (p.Arg60Ser)
c.220C>A (p.Arg74Ser)
 ClinVar dbSNP gnomAD v4
17g.28405256A>CCA499420610SLC46A1c.441T>G (p.Gly147=)
n.67+425T>G
n.495T>G
c.177T>G (p.Gly59=)
c.219T>G (p.Gly73=)
17g.28405256A>GCA499420612SLC46A1c.441T>C (p.Gly147=)
n.67+425T>C
n.495T>C
c.177T>C (p.Gly59=)
c.219T>C (p.Gly73=)
17g.28405256A>TCA499420615SLC46A1c.441T>A (p.Gly147=)
n.67+425T>A
n.495T>A
c.177T>A (p.Gly59=)
c.219T>A (p.Gly73=)
17g.28405257C>ACA8458328SLC46A1c.440G>T (p.Gly147Val)
n.67+424G>T
n.494G>T
c.176G>T (p.Gly59Val)
c.218G>T (p.Gly73Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28405257C=CA2254288674SLC46A1c.440G= (p.Gly147=)
n.67+424G=
n.494G=
c.176G= (p.Gly59=)
c.218G= (p.Gly73=)
17g.28405257C>GCA398351746SLC46A1c.440G>C (p.Gly147Ala)
n.67+424G>C
n.494G>C
c.176G>C (p.Gly59Ala)
c.218G>C (p.Gly73Ala)
17g.28405257C>TCA398351750SLC46A1c.440G>A (p.Gly147Asp)
n.67+424G>A
n.494G>A
c.176G>A (p.Gly59Asp)
c.218G>A (p.Gly73Asp)
 gnomAD v4
17g.28405258C>ACA398351756SLC46A1c.439G>T (p.Gly147Cys)
n.67+423G>T
n.493G>T
c.175G>T (p.Gly59Cys)
c.217G>T (p.Gly73Cys)
 gnomAD v4
17g.28405258C=CA2254288675SLC46A1c.439G= (p.Gly147=)
n.67+423G=
n.493G=
c.175G= (p.Gly59=)
c.217G= (p.Gly73=)
17g.28405258C>GCA026507SLC46A1c.439G>C (p.Gly147Arg)
n.67+423G>C
n.493G>C
c.175G>C (p.Gly59Arg)
c.217G>C (p.Gly73Arg)
 ClinVar dbSNP
17g.28405258C>TCA398351753SLC46A1c.439G>A (p.Gly147Ser)
n.67+423G>A
n.493G>A
c.175G>A (p.Gly59Ser)
c.217G>A (p.Gly73Ser)
 gnomAD v4
17g.28405259C>ACA499420630SLC46A1c.438G>T (p.Leu146=)
n.67+422G>T
n.492G>T
c.174G>T (p.Leu58=)
c.216G>T (p.Leu72=)
 gnomAD v4
17g.28405259C>GCA499420631SLC46A1c.438G>C (p.Leu146=)
n.67+422G>C
n.492G>C
c.174G>C (p.Leu58=)
c.216G>C (p.Leu72=)
 gnomAD v4
17g.28405259C>TCA499420627SLC46A1c.438G>A (p.Leu146=)
n.67+422G>A
n.492G>A
c.174G>A (p.Leu58=)
c.216G>A (p.Leu72=)
17g.28405260A=CA2254288676SLC46A1c.437T= (p.Leu146=)
n.67+421T=
n.491T=
c.173T= (p.Leu58=)
c.215T= (p.Leu72=)
17g.28405260A>CCA398351758SLC46A1c.437T>G (p.Leu146Arg)
n.67+421T>G
n.491T>G
c.173T>G (p.Leu58Arg)
c.215T>G (p.Leu72Arg)
17g.28405260A>GCA8458329SLC46A1c.437T>C (p.Leu146Pro)
n.67+421T>C
n.491T>C
c.173T>C (p.Leu58Pro)
c.215T>C (p.Leu72Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28405260A>TCA398351764SLC46A1c.437T>A (p.Leu146Gln)
n.67+421T>A
n.491T>A
c.173T>A (p.Leu58Gln)
c.215T>A (p.Leu72Gln)
17g.28405261G>ACA499420636SLC46A1c.436C>T (p.Leu146=)
n.67+420C>T
n.490C>T
c.172C>T (p.Leu58=)
c.214C>T (p.Leu72=)
 gnomAD v4
17g.28405261G>CCA398351768SLC46A1c.436C>G (p.Leu146Val)
n.67+420C>G
n.490C>G
c.172C>G (p.Leu58Val)
c.214C>G (p.Leu72Val)
17g.28405261G>TCA398351769SLC46A1c.436C>A (p.Leu146Met)
n.67+420C>A
n.490C>A
c.172C>A (p.Leu58Met)
c.214C>A (p.Leu72Met)
 gnomAD v4
17g.28405262C>ACA499420639SLC46A1c.435G>T (p.Val145=)
n.67+419G>T
n.489G>T
c.171G>T (p.Val57=)
c.213G>T (p.Val71=)
 gnomAD v4
17g.28405262C>GCA499420640SLC46A1c.435G>C (p.Val145=)
n.67+419G>C
n.489G>C
c.171G>C (p.Val57=)
c.213G>C (p.Val71=)
17g.28405262C>TCA499420641SLC46A1c.435G>A (p.Val145=)
n.67+419G>A
n.489G>A
c.171G>A (p.Val57=)
c.213G>A (p.Val71=)
 gnomAD v4
17g.28405263A>CCA398351772SLC46A1c.434T>G (p.Val145Gly)
n.67+418T>G
n.488T>G
c.170T>G (p.Val57Gly)
c.212T>G (p.Val71Gly)
17g.28405263A>GCA398351775SLC46A1c.434T>C (p.Val145Ala)
n.67+418T>C
n.488T>C
c.170T>C (p.Val57Ala)
c.212T>C (p.Val71Ala)
17g.28405263A>TCA398351776SLC46A1c.434T>A (p.Val145Glu)
n.67+418T>A
n.488T>A
c.170T>A (p.Val57Glu)
c.212T>A (p.Val71Glu)
17g.28405264C>ACA398351779SLC46A1c.433G>T (p.Val145Leu)
n.67+417G>T
n.487G>T
c.169G>T (p.Val57Leu)
c.211G>T (p.Val71Leu)
17g.28405264C=CA2254288677SLC46A1c.433G= (p.Val145=)
n.67+417G=
n.487G=
c.169G= (p.Val57=)
c.211G= (p.Val71=)
17g.28405264C>GCA398351783SLC46A1c.433G>C (p.Val145Leu)
n.67+417G>C
n.487G>C
c.169G>C (p.Val57Leu)
c.211G>C (p.Val71Leu)
17g.28405264C>TCA398351786SLC46A1c.433G>A (p.Val145Met)
n.67+417G>A
n.487G>A
c.169G>A (p.Val57Met)
c.211G>A (p.Val71Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28405265G>ACA8458330SLC46A1c.432C>T (p.Phe144=)
n.67+416C>T
n.486C>T
c.168C>T (p.Phe56=)
c.210C>T (p.Phe70=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.28405265G>CCA398351798SLC46A1c.432C>G (p.Phe144Leu)
n.67+416C>G
n.486C>G
c.168C>G (p.Phe56Leu)
c.210C>G (p.Phe70Leu)
17g.28405265G=CA2254288678SLC46A1c.432C= (p.Phe144=)
n.67+416C=
n.486C=
c.168C= (p.Phe56=)
c.210C= (p.Phe70=)
17g.28405265G>TCA398351790SLC46A1c.432C>A (p.Phe144Leu)
n.67+416C>A
n.486C>A
c.168C>A (p.Phe56Leu)
c.210C>A (p.Phe70Leu)
17g.28405266A>CCA398351803SLC46A1c.431T>G (p.Phe144Cys)
n.67+415T>G
n.485T>G
c.167T>G (p.Phe56Cys)
c.209T>G (p.Phe70Cys)
17g.28405266A>GCA398351806SLC46A1c.431T>C (p.Phe144Ser)
n.67+415T>C
n.485T>C
c.167T>C (p.Phe56Ser)
c.209T>C (p.Phe70Ser)
17g.28405266A>TCA398351813SLC46A1c.431T>A (p.Phe144Tyr)
n.67+415T>A
n.485T>A
c.167T>A (p.Phe56Tyr)
c.209T>A (p.Phe70Tyr)
 gnomAD v4
17g.28405267A>CCA398351815SLC46A1c.430T>G (p.Phe144Val)
n.67+414T>G
n.484T>G
c.166T>G (p.Phe56Val)
c.208T>G (p.Phe70Val)
17g.28405267A>GCA398351816SLC46A1c.430T>C (p.Phe144Leu)
n.67+414T>C
n.484T>C
c.166T>C (p.Phe56Leu)
c.208T>C (p.Phe70Leu)
17g.28405267A>TCA398351819SLC46A1c.430T>A (p.Phe144Ile)
n.67+414T>A
n.484T>A
c.166T>A (p.Phe56Ile)
c.208T>A (p.Phe70Ile)
17g.28405268G>ACA499420662SLC46A1c.429C>T (p.Tyr143=)
n.67+413C>T
n.483C>T
c.165C>T (p.Tyr55=)
c.207C>T (p.Tyr69=)
17g.28405268G>CCA398351821SLC46A1c.429C>G (p.Tyr143Ter)
n.67+413C>G
n.483C>G
c.165C>G (p.Tyr55Ter)
c.207C>G (p.Tyr69Ter)
17g.28405268G>TCA398351824SLC46A1c.429C>A (p.Tyr143Ter)
n.67+413C>A
n.483C>A
c.165C>A (p.Tyr55Ter)
c.207C>A (p.Tyr69Ter)
17g.28405269T>ACA398351827SLC46A1c.428A>T (p.Tyr143Phe)
n.67+412A>T
n.482A>T
c.164A>T (p.Tyr55Phe)
c.206A>T (p.Tyr69Phe)
17g.28405269T>CCA8458331SLC46A1c.428A>G (p.Tyr143Cys)
n.67+412A>G
n.482A>G
c.164A>G (p.Tyr55Cys)
c.206A>G (p.Tyr69Cys)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.28405269T>GCA398351833SLC46A1c.428A>C (p.Tyr143Ser)
n.67+412A>C
n.482A>C
c.164A>C (p.Tyr55Ser)
c.206A>C (p.Tyr69Ser)
17g.28405269T=CA2254288679SLC46A1c.428A= (p.Tyr143=)
n.67+412A=
n.482A=
c.164A= (p.Tyr55=)
c.206A= (p.Tyr69=)
17g.28405270A>CCA398351837SLC46A1c.427T>G (p.Tyr143Asp)
n.67+411T>G
n.481T>G
c.163T>G (p.Tyr55Asp)
c.205T>G (p.Tyr69Asp)
17g.28405270A>GCA398351849SLC46A1c.427T>C (p.Tyr143His)
n.67+411T>C
n.481T>C
c.163T>C (p.Tyr55His)
c.205T>C (p.Tyr69His)
 gnomAD v4
17g.28405270A>TCA398351851SLC46A1c.427T>A (p.Tyr143Asn)
n.67+411T>A
n.481T>A
c.163T>A (p.Tyr55Asn)
c.205T>A (p.Tyr69Asn)
17g.28405271G>ACA499420675SLC46A1c.426C>T (p.Gly142=)
n.67+410C>T
n.480C>T
c.162C>T (p.Gly54=)
c.204C>T (p.Gly68=)
17g.28405271G>CCA289114217SLC46A1c.426C>G (p.Gly142=)
n.67+410C>G
n.480C>G
c.162C>G (p.Gly54=)
c.204C>G (p.Gly68=)
 dbSNP gnomAD v4
17g.28405271G=CA2254288680SLC46A1c.426C= (p.Gly142=)
n.67+410C=
n.480C=
c.162C= (p.Gly54=)
c.204C= (p.Gly68=)
17g.28405271G>TCA499420688SLC46A1c.426C>A (p.Gly142=)
n.67+410C>A
n.480C>A
c.162C>A (p.Gly54=)
c.204C>A (p.Gly68=)
17g.28405272C>ACA8458332SLC46A1c.425G>T (p.Gly142Val)
n.67+409G>T
n.479G>T
c.161G>T (p.Gly54Val)
c.203G>T (p.Gly68Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28405272C=CA2254288681SLC46A1c.425G= (p.Gly142=)
n.67+409G=
n.479G=
c.161G= (p.Gly54=)
c.203G= (p.Gly68=)
17g.28405272C>GCA398351856SLC46A1c.425G>C (p.Gly142Ala)
n.67+409G>C
n.479G>C
c.161G>C (p.Gly54Ala)
c.203G>C (p.Gly68Ala)
17g.28405272C>TCA398351857SLC46A1c.425G>A (p.Gly142Asp)
n.67+409G>A
n.479G>A
c.161G>A (p.Gly54Asp)
c.203G>A (p.Gly68Asp)
 gnomAD v4
17g.28405273C>ACA398351858SLC46A1c.424G>T (p.Gly142Cys)
n.67+408G>T
n.478G>T
c.160G>T (p.Gly54Cys)
c.202G>T (p.Gly68Cys)
 gnomAD v4
17g.28405273C>GCA398351860SLC46A1c.424G>C (p.Gly142Arg)
n.67+408G>C
n.478G>C
c.160G>C (p.Gly54Arg)
c.202G>C (p.Gly68Arg)
17g.28405273C>TCA398351862SLC46A1c.424G>A (p.Gly142Ser)
n.67+408G>A
n.478G>A
c.160G>A (p.Gly54Ser)
c.202G>A (p.Gly68Ser)
 gnomAD v4
17g.28405274G>ACA499420700SLC46A1c.423C>T (p.Val141=)
n.67+407C>T
n.477C>T
c.159C>T (p.Val53=)
c.201C>T (p.Val67=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28405274G>CCA499420701SLC46A1c.423C>G (p.Val141=)
n.67+407C>G
n.477C>G
c.159C>G (p.Val53=)
c.201C>G (p.Val67=)
 dbSNP gnomAD v2 gnomAD v4
17g.28405274G=CA2254288682SLC46A1c.423C= (p.Val141=)
n.67+407C=
n.477C=
c.159C= (p.Val53=)
c.201C= (p.Val67=)
17g.28405274G>TCA499420702SLC46A1c.423C>A (p.Val141=)
n.67+407C>A
n.477C>A
c.159C>A (p.Val53=)
c.201C>A (p.Val67=)
 gnomAD v4
17g.28405275A>CCA398351864SLC46A1c.422T>G (p.Val141Gly)
n.67+406T>G
n.476T>G
c.158T>G (p.Val53Gly)
c.200T>G (p.Val67Gly)
17g.28405275A>GCA398351865SLC46A1c.422T>C (p.Val141Ala)
n.67+406T>C
n.476T>C
c.158T>C (p.Val53Ala)
c.200T>C (p.Val67Ala)
17g.28405275A>TCA398351866SLC46A1c.422T>A (p.Val141Asp)
n.67+406T>A
n.476T>A
c.158T>A (p.Val53Asp)
c.200T>A (p.Val67Asp)
 gnomAD v4
17g.28405276C>ACA398351867SLC46A1c.421G>T (p.Val141Phe)
n.67+405G>T
n.475G>T
c.157G>T (p.Val53Phe)
c.199G>T (p.Val67Phe)
 gnomAD v4
17g.28405276C>GCA398351868SLC46A1c.421G>C (p.Val141Leu)
n.67+405G>C
n.475G>C
c.157G>C (p.Val53Leu)
c.199G>C (p.Val67Leu)
17g.28405276C>TCA398351870SLC46A1c.421G>A (p.Val141Ile)
n.67+405G>A
n.475G>A
c.157G>A (p.Val53Ile)
c.199G>A (p.Val67Ile)
17g.28405277G>ACA499420706SLC46A1c.420C>T (p.His140=)
n.67+404C>T
n.474C>T
c.156C>T (p.His52=)
c.198C>T (p.His66=)
 ClinVar dbSNP gnomAD v4
17g.28405277G>CCA398351877SLC46A1c.420C>G (p.His140Gln)
n.67+404C>G
n.474C>G
c.156C>G (p.His52Gln)
c.198C>G (p.His66Gln)
17g.28405277G=CA2254288683SLC46A1c.420C= (p.His140=)
n.67+404C=
n.474C=
c.156C= (p.His52=)
c.198C= (p.His66=)
17g.28405277G>TCA398351878SLC46A1c.420C>A (p.His140Gln)
n.67+404C>A
n.474C>A
c.156C>A (p.His52Gln)
c.198C>A (p.His66Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.28405278T>ACA398351882SLC46A1c.419A>T (p.His140Leu)
n.67+403A>T
n.473A>T
c.155A>T (p.His52Leu)
c.197A>T (p.His66Leu)
17g.28405278T>CCA398351883SLC46A1c.419A>G (p.His140Arg)
n.67+403A>G
n.473A>G
c.155A>G (p.His52Arg)
c.197A>G (p.His66Arg)
 gnomAD v4
17g.28405278T>GCA8458333SLC46A1c.419A>C (p.His140Pro)
n.67+403A>C
n.473A>C
c.155A>C (p.His52Pro)
c.197A>C (p.His66Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28405278T=CA2254288684SLC46A1c.419A= (p.His140=)
n.67+403A=
n.473A=
c.155A= (p.His52=)
c.197A= (p.His66=)
17g.28405279G>ACA398351884SLC46A1c.418C>T (p.His140Tyr)
n.67+402C>T
n.472C>T
c.154C>T (p.His52Tyr)
c.196C>T (p.His66Tyr)
 gnomAD v4
17g.28405279G>CCA398351887SLC46A1c.418C>G (p.His140Asp)
n.67+402C>G
n.472C>G
c.154C>G (p.His52Asp)
c.196C>G (p.His66Asp)
17g.28405279G=CA2254288685SLC46A1c.418C= (p.His140=)
n.67+402C=
n.472C=
c.154C= (p.His52=)
c.196C= (p.His66=)
17g.28405279G>TCA398351888SLC46A1c.418C>A (p.His140Asn)
n.67+402C>A
n.472C>A
c.154C>A (p.His52Asn)
c.196C>A (p.His66Asn)
 dbSNP gnomAD v4
17g.28405280G>ACA499420712SLC46A1c.417C>T (p.Leu139=)
n.67+401C>T
n.471C>T
c.153C>T (p.Leu51=)
c.195C>T (p.Leu65=)
 dbSNP gnomAD v2 gnomAD v4
17g.28405280G>CCA499420713SLC46A1c.417C>G (p.Leu139=)
n.67+401C>G
n.471C>G
c.153C>G (p.Leu51=)
c.195C>G (p.Leu65=)
 gnomAD v4 COSMIC
17g.28405280G=CA2254288686SLC46A1c.417C= (p.Leu139=)
n.67+401C=
n.471C=
c.153C= (p.Leu51=)
c.195C= (p.Leu65=)
17g.28405280G>TCA499420715SLC46A1c.417C>A (p.Leu139=)
n.67+401C>A
n.471C>A
c.153C>A (p.Leu51=)
c.195C>A (p.Leu65=)
 gnomAD v4
17g.28405281A>CCA398351905SLC46A1c.416T>G (p.Leu139Arg)
n.67+400T>G
n.470T>G
c.152T>G (p.Leu51Arg)
c.194T>G (p.Leu65Arg)
17g.28405281A>GCA398351906SLC46A1c.416T>C (p.Leu139Pro)
n.67+400T>C
n.470T>C
c.152T>C (p.Leu51Pro)
c.194T>C (p.Leu65Pro)
17g.28405281A>TCA398351907SLC46A1c.416T>A (p.Leu139His)
n.67+400T>A
n.470T>A
c.152T>A (p.Leu51His)
c.194T>A (p.Leu65His)
17g.28405282G>ACA398351912SLC46A1c.415C>T (p.Leu139Phe)
n.67+399C>T
n.469C>T
c.151C>T (p.Leu51Phe)
c.193C>T (p.Leu65Phe)
 gnomAD v4
17g.28405282G>CCA398351909SLC46A1c.415C>G (p.Leu139Val)
n.67+399C>G
n.469C>G
c.151C>G (p.Leu51Val)
c.193C>G (p.Leu65Val)
17g.28405282G>TCA398351908SLC46A1c.415C>A (p.Leu139Ile)
n.67+399C>A
n.469C>A
c.151C>A (p.Leu51Ile)
c.193C>A (p.Leu65Ile)
 gnomAD v4
17g.28405283C>ACA398351915SLC46A1c.414G>T (p.Gln138His)
n.67+398G>T
n.468G>T
c.150G>T (p.Gln50His)
c.192G>T (p.Gln64His)
 gnomAD v4
17g.28405283C=CA2254288687SLC46A1c.414G= (p.Gln138=)
n.67+398G=
n.468G=
c.150G= (p.Gln50=)
c.192G= (p.Gln64=)
17g.28405283C>GCA398351916SLC46A1c.414G>C (p.Gln138His)
n.67+398G>C
n.468G>C
c.150G>C (p.Gln50His)
c.192G>C (p.Gln64His)
17g.28405283C>TCA8458334SLC46A1c.414G>A (p.Gln138=)
n.67+398G>A
n.468G>A
c.150G>A (p.Gln50=)
c.192G>A (p.Gln64=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28405284T>ACA398351927SLC46A1c.413A>T (p.Gln138Leu)
n.67+397A>T
n.467A>T
c.149A>T (p.Gln50Leu)
c.191A>T (p.Gln64Leu)
17g.28405284T>CCA398351929SLC46A1c.413A>G (p.Gln138Arg)
n.67+397A>G
n.467A>G
c.149A>G (p.Gln50Arg)
c.191A>G (p.Gln64Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.28405284T>GCA398351935SLC46A1c.413A>C (p.Gln138Pro)
n.67+397A>C
n.467A>C
c.149A>C (p.Gln50Pro)
c.191A>C (p.Gln64Pro)
17g.28405284T=CA2254288688SLC46A1c.413A= (p.Gln138=)
n.67+397A=
n.467A=
c.149A= (p.Gln50=)
c.191A= (p.Gln64=)
17g.28405285G>ACA398351946SLC46A1c.412C>T (p.Gln138Ter)
n.67+396C>T
n.466C>T
c.148C>T (p.Gln50Ter)
c.190C>T (p.Gln64Ter)
 gnomAD v4
17g.28405285G>CCA398351939SLC46A1c.412C>G (p.Gln138Glu)
n.67+396C>G
n.466C>G
c.148C>G (p.Gln50Glu)
c.190C>G (p.Gln64Glu)
17g.28405285G>TCA398351941SLC46A1c.412C>A (p.Gln138Lys)
n.67+396C>A
n.466C>A
c.148C>A (p.Gln50Lys)
c.190C>A (p.Gln64Lys)
 gnomAD v4
17g.28405286C>ACA499420726SLC46A1c.411G>T (p.Leu137=)
n.67+395G>T
n.465G>T
c.147G>T (p.Leu49=)
c.189G>T (p.Leu63=)
 gnomAD v4
17g.28405286C>GCA499420727SLC46A1c.411G>C (p.Leu137=)
n.67+395G>C
n.465G>C
c.147G>C (p.Leu49=)
c.189G>C (p.Leu63=)
17g.28405286C>TCA499420728SLC46A1c.411G>A (p.Leu137=)
n.67+395G>A
n.465G>A
c.147G>A (p.Leu49=)
c.189G>A (p.Leu63=)
 gnomAD v4
17g.28405287A>CCA398351948SLC46A1c.410T>G (p.Leu137Arg)
n.67+394T>G
n.464T>G
c.146T>G (p.Leu49Arg)
c.188T>G (p.Leu63Arg)
17g.28405287A>GCA398351950SLC46A1c.410T>C (p.Leu137Pro)
n.67+394T>C
n.464T>C
c.146T>C (p.Leu49Pro)
c.188T>C (p.Leu63Pro)
 gnomAD v4
17g.28405287A>TCA398351962SLC46A1c.410T>A (p.Leu137Gln)
n.67+394T>A
n.464T>A
c.146T>A (p.Leu49Gln)
c.188T>A (p.Leu63Gln)
17g.28405288G>ACA499420732SLC46A1c.409C>T (p.Leu137=)
n.67+393C>T
n.463C>T
c.145C>T (p.Leu49=)
c.187C>T (p.Leu63=)
17g.28405288G>CCA398351977SLC46A1c.409C>G (p.Leu137Val)
n.67+393C>G
n.463C>G
c.145C>G (p.Leu49Val)
c.187C>G (p.Leu63Val)
17g.28405288G>TCA398351978SLC46A1c.409C>A (p.Leu137Met)
n.67+393C>A
n.463C>A
c.145C>A (p.Leu49Met)
c.187C>A (p.Leu63Met)
 gnomAD v4
17g.28405289C>ACA398351979SLC46A1c.408G>T (p.Gln136His)
n.67+392G>T
n.462G>T
c.144G>T (p.Gln48His)
c.186G>T (p.Gln62His)
 gnomAD v4
17g.28405289C>GCA398351980SLC46A1c.408G>C (p.Gln136His)
n.67+392G>C
n.462G>C
c.144G>C (p.Gln48His)
c.186G>C (p.Gln62His)
17g.28405289C>TCA499420735SLC46A1c.408G>A (p.Gln136=)
n.67+392G>A
n.462G>A
c.144G>A (p.Gln48=)
c.186G>A (p.Gln62=)
 gnomAD v4
17g.28405290T>ACA398351986SLC46A1c.407A>T (p.Gln136Leu)
n.67+391A>T
n.461A>T
c.143A>T (p.Gln48Leu)
c.185A>T (p.Gln62Leu)
17g.28405290T>CCA398352000SLC46A1c.407A>G (p.Gln136Arg)
n.67+391A>G
n.461A>G
c.143A>G (p.Gln48Arg)
c.185A>G (p.Gln62Arg)
 gnomAD v4
17g.28405290T>GCA398352004SLC46A1c.407A>C (p.Gln136Pro)
n.67+391A>C
n.461A>C
c.143A>C (p.Gln48Pro)
c.185A>C (p.Gln62Pro)
17g.28405291G>ACA398352008SLC46A1c.406C>T (p.Gln136Ter)
n.67+390C>T
n.460C>T
c.142C>T (p.Gln48Ter)
c.184C>T (p.Gln62Ter)
 gnomAD v4
17g.28405291G>CCA398352014SLC46A1c.406C>G (p.Gln136Glu)
n.67+390C>G
n.460C>G
c.142C>G (p.Gln48Glu)
c.184C>G (p.Gln62Glu)
17g.28405291G>TCA398352016SLC46A1c.406C>A (p.Gln136Lys)
n.67+390C>A
n.460C>A
c.142C>A (p.Gln48Lys)
c.184C>A (p.Gln62Lys)
 gnomAD v4
17g.28405292C>ACA499420743SLC46A1c.405G>T (p.Val135=)
n.67+389G>T
n.459G>T
c.141G>T (p.Val47=)
c.183G>T (p.Val61=)
 gnomAD v4
17g.28405292C>GCA499420744SLC46A1c.405G>C (p.Val135=)
n.67+389G>C
n.459G>C
c.141G>C (p.Val47=)
c.183G>C (p.Val61=)
17g.28405292C>TCA499420746SLC46A1c.405G>A (p.Val135=)
n.67+389G>A
n.459G>A
c.141G>A (p.Val47=)
c.183G>A (p.Val61=)
17g.28405293A=CA2254288689SLC46A1c.404T= (p.Val135=)
n.67+388T=
n.458T=
c.140T= (p.Val47=)
c.182T= (p.Val61=)
17g.28405293A>CCA398352019SLC46A1c.404T>G (p.Val135Gly)
n.67+388T>G
n.458T>G
c.140T>G (p.Val47Gly)
c.182T>G (p.Val61Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.28405293A>GCA398352043SLC46A1c.404T>C (p.Val135Ala)
n.67+388T>C
n.458T>C
c.140T>C (p.Val47Ala)
c.182T>C (p.Val61Ala)
17g.28405293A>TCA398352024SLC46A1c.404T>A (p.Val135Glu)
n.67+388T>A
n.458T>A
c.140T>A (p.Val47Glu)
c.182T>A (p.Val61Glu)
17g.28405294C>ACA398352056SLC46A1c.403G>T (p.Val135Leu)
n.67+387G>T
n.457G>T
c.139G>T (p.Val47Leu)
c.181G>T (p.Val61Leu)
 gnomAD v4
17g.28405294C>GCA398352060SLC46A1c.403G>C (p.Val135Leu)
n.67+387G>C
n.457G>C
c.139G>C (p.Val47Leu)
c.181G>C (p.Val61Leu)
17g.28405294C>TCA398352062SLC46A1c.403G>A (p.Val135Met)
n.67+387G>A
n.457G>A
c.139G>A (p.Val47Met)
c.181G>A (p.Val61Met)
17g.28405295C>ACA499420760SLC46A1c.402G>T (p.Val134=)
n.67+386G>T
n.456G>T
c.138G>T (p.Val46=)
c.180G>T (p.Val60=)
 gnomAD v4
17g.28405295C>GCA499420761SLC46A1c.402G>C (p.Val134=)
n.67+386G>C
n.456G>C
c.138G>C (p.Val46=)
c.180G>C (p.Val60=)
17g.28405295C>TCA499420764SLC46A1c.402G>A (p.Val134=)
n.67+386G>A
n.456G>A
c.138G>A (p.Val46=)
c.180G>A (p.Val60=)
 gnomAD v4
17g.28405296A>CCA398352065SLC46A1c.401T>G (p.Val134Gly)
n.67+385T>G
n.455T>G
c.137T>G (p.Val46Gly)
c.179T>G (p.Val60Gly)
17g.28405296A>GCA398352069SLC46A1c.401T>C (p.Val134Ala)
n.67+385T>C
n.455T>C
c.137T>C (p.Val46Ala)
c.179T>C (p.Val60Ala)
17g.28405296A>TCA398352074SLC46A1c.401T>A (p.Val134Glu)
n.67+385T>A
n.455T>A
c.137T>A (p.Val46Glu)
c.179T>A (p.Val60Glu)
17g.28405297C>ACA398352084SLC46A1c.400G>T (p.Val134Leu)
n.67+384G>T
n.454G>T
c.136G>T (p.Val46Leu)
c.178G>T (p.Val60Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.28405297C=CA2254288690SLC46A1c.400G= (p.Val134=)
n.67+384G=
n.454G=
c.136G= (p.Val46=)
c.178G= (p.Val60=)
17g.28405297C>GCA398352077SLC46A1c.400G>C (p.Val134Leu)
n.67+384G>C
n.454G>C
c.136G>C (p.Val46Leu)
c.178G>C (p.Val60Leu)
17g.28405297C>TCA398352082SLC46A1c.400G>A (p.Val134Met)
n.67+384G>A
n.454G>A
c.136G>A (p.Val46Met)
c.178G>A (p.Val60Met)
 gnomAD v4
17g.28405298A>CCA398352086SLC46A1c.399T>G (p.Phe133Leu)
n.67+383T>G
n.453T>G
c.135T>G (p.Phe45Leu)
c.177T>G (p.Phe59Leu)
17g.28405298A>GCA499420782SLC46A1c.399T>C (p.Phe133=)
n.67+383T>C
n.453T>C
c.135T>C (p.Phe45=)
c.177T>C (p.Phe59=)
17g.28405298A>TCA398352088SLC46A1c.399T>A (p.Phe133Leu)
n.67+383T>A
n.453T>A
c.135T>A (p.Phe45Leu)
c.177T>A (p.Phe59Leu)
17g.28405302delCA2636824848SLC46A1c.399del (p.Phe133LeufsTer?)
n.67+383del
n.453del
c.135del (p.Phe45LeufsTer?)
c.177del (p.Phe59LeufsTer?)
 gnomAD v4
17g.28405299A=CA2254288691SLC46A1c.398T= (p.Phe133=)
n.67+382T=
n.452T=
c.134T= (p.Phe45=)
c.176T= (p.Phe59=)
17g.28405299A>CCA398352093SLC46A1c.398T>G (p.Phe133Cys)
n.67+382T>G
n.452T>G
c.134T>G (p.Phe45Cys)
c.176T>G (p.Phe59Cys)
17g.28405299A>GCA398352097SLC46A1c.398T>C (p.Phe133Ser)
n.67+382T>C
n.452T>C
c.134T>C (p.Phe45Ser)
c.176T>C (p.Phe59Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.28405299A>TCA398352099SLC46A1c.398T>A (p.Phe133Tyr)
n.67+382T>A
n.452T>A
c.134T>A (p.Phe45Tyr)
c.176T>A (p.Phe59Tyr)
17g.28405300A>CCA398352110SLC46A1c.397T>G (p.Phe133Val)
n.67+381T>G
n.451T>G
c.133T>G (p.Phe45Val)
c.175T>G (p.Phe59Val)
17g.28405300A>GCA398352115SLC46A1c.397T>C (p.Phe133Leu)
n.67+381T>C
n.451T>C
c.133T>C (p.Phe45Leu)
c.175T>C (p.Phe59Leu)
17g.28405300A>TCA398352113SLC46A1c.397T>A (p.Phe133Ile)
n.67+381T>A
n.451T>A
c.133T>A (p.Phe45Ile)
c.175T>A (p.Phe59Ile)
17g.28405301A>CCA499420804SLC46A1c.396T>G (p.Val132=)
n.67+380T>G
n.450T>G
c.132T>G (p.Val44=)
c.174T>G (p.Val58=)
17g.28405301A>GCA499420806SLC46A1c.396T>C (p.Val132=)
n.67+380T>C
n.450T>C
c.132T>C (p.Val44=)
c.174T>C (p.Val58=)
17g.28405301A>TCA499420803SLC46A1c.396T>A (p.Val132=)
n.67+380T>A
n.450T>A
c.132T>A (p.Val44=)
c.174T>A (p.Val58=)
17g.28405302A>CCA398352117SLC46A1c.395T>G (p.Val132Gly)
n.67+379T>G
n.449T>G
c.131T>G (p.Val44Gly)
c.173T>G (p.Val58Gly)
17g.28405302A>GCA398352119SLC46A1c.395T>C (p.Val132Ala)
n.67+379T>C
n.449T>C
c.131T>C (p.Val44Ala)
c.173T>C (p.Val58Ala)
 gnomAD v4
17g.28405302A>TCA398352122SLC46A1c.395T>A (p.Val132Asp)
n.67+379T>A
n.449T>A
c.131T>A (p.Val44Asp)
c.173T>A (p.Val58Asp)
17g.28405303C>ACA398352124SLC46A1c.394G>T (p.Val132Phe)
n.67+378G>T
n.448G>T
c.130G>T (p.Val44Phe)
c.172G>T (p.Val58Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.28405303C=CA2254288692SLC46A1c.394G= (p.Val132=)
n.67+378G=
n.448G=
c.130G= (p.Val44=)
c.172G= (p.Val58=)
17g.28405303C>GCA398352128SLC46A1c.394G>C (p.Val132Leu)
n.67+378G>C
n.448G>C
c.130G>C (p.Val44Leu)
c.172G>C (p.Val58Leu)
17g.28405303C>TCA8458335SLC46A1c.394G>A (p.Val132Ile)
n.67+378G>A
n.448G>A
c.130G>A (p.Val44Ile)
c.172G>A (p.Val58Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28405304G>ACA8458336SLC46A1c.393C>T (p.Ser131=)
n.67+377C>T
n.447C>T
c.129C>T (p.Ser43=)
c.171C>T (p.Ser57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28405304G>CCA499420823SLC46A1c.393C>G (p.Ser131=)
n.67+377C>G
n.447C>G
c.129C>G (p.Ser43=)
c.171C>G (p.Ser57=)
17g.28405304G=CA2254288693SLC46A1c.393C= (p.Ser131=)
n.67+377C=
n.447C=
c.129C= (p.Ser43=)
c.171C= (p.Ser57=)
17g.28405304G>TCA499420824SLC46A1c.393C>A (p.Ser131=)
n.67+377C>A
n.447C>A
c.129C>A (p.Ser43=)
c.171C>A (p.Ser57=)
 gnomAD v4
17g.28405304_28405305delCA2809113598SLC46A1c.392_393del (p.Ser131CysfsTer?)
n.67+376_67+377del
n.446_447del
c.128_129del (p.Ser43CysfsTer?)
c.170_171del (p.Ser57CysfsTer?)
17g.28405305G>ACA398352136SLC46A1c.392C>T (p.Ser131Phe)
n.67+376C>T
n.446C>T
c.128C>T (p.Ser43Phe)
c.170C>T (p.Ser57Phe)
 gnomAD v4
17g.28405305G>CCA398352137SLC46A1c.392C>G (p.Ser131Cys)
n.67+376C>G
n.446C>G
c.128C>G (p.Ser43Cys)
c.170C>G (p.Ser57Cys)
17g.28405305G=CA2254288694SLC46A1c.392C= (p.Ser131=)
n.67+376C=
n.446C=
c.128C= (p.Ser43=)
c.170C= (p.Ser57=)
17g.28405305G>TCA8458337SLC46A1c.392C>A (p.Ser131Tyr)
n.67+376C>A
n.446C>A
c.128C>A (p.Ser43Tyr)
c.170C>A (p.Ser57Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28405306A>CCA398352141SLC46A1c.391T>G (p.Ser131Ala)
n.67+375T>G
n.445T>G
c.127T>G (p.Ser43Ala)
c.169T>G (p.Ser57Ala)
17g.28405306A>GCA398352144SLC46A1c.391T>C (p.Ser131Pro)
n.67+375T>C
n.445T>C
c.127T>C (p.Ser43Pro)
c.169T>C (p.Ser57Pro)
17g.28405306A>TCA398352143SLC46A1c.391T>A (p.Ser131Thr)
n.67+375T>A
n.445T>A
c.127T>A (p.Ser43Thr)
c.169T>A (p.Ser57Thr)
17g.28405307_28405311dupCA2695224554SLC46A1c.387_391dup (p.Ser131Ter)
n.67+371_67+375dup
n.441_445dup
c.123_127dup (p.Ser43Ter)
c.165_169dup (p.Ser57Ter)
17g.28405307C>ACA499420838SLC46A1c.390G>T (p.Val130=)
n.67+374G>T
n.444G>T
c.126G>T (p.Val42=)
c.168G>T (p.Val56=)
 gnomAD v4
17g.28405307C>GCA499420836SLC46A1c.390G>C (p.Val130=)
n.67+374G>C
n.444G>C
c.126G>C (p.Val42=)
c.168G>C (p.Val56=)
17g.28405307C>TCA499420833SLC46A1c.390G>A (p.Val130=)
n.67+374G>A
n.444G>A
c.126G>A (p.Val42=)
c.168G>A (p.Val56=)
 gnomAD v4
17g.28405308A=CA2254288695SLC46A1c.389T= (p.Val130=)
n.67+373T=
n.443T=
c.125T= (p.Val42=)
c.167T= (p.Val56=)
17g.28405308A>CCA398352148SLC46A1c.389T>G (p.Val130Gly)
n.67+373T>G
n.443T>G
c.125T>G (p.Val42Gly)
c.167T>G (p.Val56Gly)
17g.28405308A>GCA8458338SLC46A1c.389T>C (p.Val130Ala)
n.67+373T>C
n.443T>C
c.125T>C (p.Val42Ala)
c.167T>C (p.Val56Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28405308A>TCA398352152SLC46A1c.389T>A (p.Val130Glu)
n.67+373T>A
n.443T>A
c.125T>A (p.Val42Glu)
c.167T>A (p.Val56Glu)
17g.28405309C>ACA398352156SLC46A1c.388G>T (p.Val130Leu)
n.67+372G>T
n.442G>T
c.124G>T (p.Val42Leu)
c.166G>T (p.Val56Leu)
 gnomAD v4
17g.28405309C>GCA398352158SLC46A1c.388G>C (p.Val130Leu)
n.67+372G>C
n.442G>C
c.124G>C (p.Val42Leu)
c.166G>C (p.Val56Leu)
17g.28405309C>TCA398352160SLC46A1c.388G>A (p.Val130Met)
n.67+372G>A
n.442G>A
c.124G>A (p.Val42Met)
c.166G>A (p.Val56Met)
17g.28405310delCA2636824891SLC46A1c.387del (p.Val130CysfsTer?)
n.67+371del
n.441del
c.123del (p.Val42CysfsTer?)
c.165del (p.Val56CysfsTer?)
 gnomAD v4
17g.28405310T>ACA499420864SLC46A1c.387A>T (p.Leu129=)
n.67+371A>T
n.441A>T
c.123A>T (p.Leu41=)
c.165A>T (p.Leu55=)
17g.28405310T>CCA499420866SLC46A1c.387A>G (p.Leu129=)
n.67+371A>G
n.441A>G
c.123A>G (p.Leu41=)
c.165A>G (p.Leu55=)
17g.28405310T>GCA499420868SLC46A1c.387A>C (p.Leu129=)
n.67+371A>C
n.441A>C
c.123A>C (p.Leu41=)
c.165A>C (p.Leu55=)
17g.28405311A>CCA398352163SLC46A1c.386T>G (p.Leu129Arg)
n.67+370T>G
n.440T>G
c.122T>G (p.Leu41Arg)
c.164T>G (p.Leu55Arg)
17g.28405311A>GCA398352166SLC46A1c.386T>C (p.Leu129Pro)
n.67+370T>C
n.440T>C
c.122T>C (p.Leu41Pro)
c.164T>C (p.Leu55Pro)
17g.28405311A>TCA398352167SLC46A1c.386T>A (p.Leu129Gln)
n.67+370T>A
n.440T>A
c.122T>A (p.Leu41Gln)
c.164T>A (p.Leu55Gln)
17g.28405312G>ACA499420878SLC46A1c.385C>T (p.Leu129=)
n.67+369C>T
n.439C>T
c.121C>T (p.Leu41=)
c.163C>T (p.Leu55=)
17g.28405312G>CCA398352171SLC46A1c.385C>G (p.Leu129Val)
n.67+369C>G
n.439C>G
c.121C>G (p.Leu41Val)
c.163C>G (p.Leu55Val)
17g.28405312G>TCA398352172SLC46A1c.385C>A (p.Leu129Ile)
n.67+369C>A
n.439C>A
c.121C>A (p.Leu41Ile)
c.163C>A (p.Leu55Ile)
 gnomAD v4
17g.28405313G>ACA8458339SLC46A1c.384C>T (p.Ala128=)
n.67+368C>T
n.438C>T
c.120C>T (p.Ala40=)
c.162C>T (p.Ala54=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28405313G>CCA499420881SLC46A1c.384C>G (p.Ala128=)
n.67+368C>G
n.438C>G
c.120C>G (p.Ala40=)
c.162C>G (p.Ala54=)
17g.28405313G=CA2254288696SLC46A1c.384C= (p.Ala128=)
n.67+368C=
n.438C=
c.120C= (p.Ala40=)
c.162C= (p.Ala54=)
17g.28405313G>TCA499420882SLC46A1c.384C>A (p.Ala128=)
n.67+368C>A
n.438C>A
c.120C>A (p.Ala40=)
c.162C>A (p.Ala54=)
17g.28405314G>ACA8458340SLC46A1c.383C>T (p.Ala128Val)
n.67+367C>T
n.437C>T
c.119C>T (p.Ala40Val)
c.161C>T (p.Ala54Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28405314G>CCA398352177SLC46A1c.383C>G (p.Ala128Gly)
n.67+367C>G
n.437C>G
c.119C>G (p.Ala40Gly)
c.161C>G (p.Ala54Gly)
17g.28405314G=CA2254288697SLC46A1c.383C= (p.Ala128=)
n.67+367C=
n.437C=
c.119C= (p.Ala40=)
c.161C= (p.Ala54=)
17g.28405314G>TCA398352178SLC46A1c.383C>A (p.Ala128Asp)
n.67+367C>A
n.437C>A
c.119C>A (p.Ala40Asp)
c.161C>A (p.Ala54Asp)
17g.28405315C>ACA398352179SLC46A1c.382G>T (p.Ala128Ser)
n.67+366G>T
n.436G>T
c.118G>T (p.Ala40Ser)
c.160G>T (p.Ala54Ser)
 gnomAD v4
17g.28405315C=CA2254288698SLC46A1c.382G= (p.Ala128=)
n.67+366G=
n.436G=
c.118G= (p.Ala40=)
c.160G= (p.Ala54=)
17g.28405315C>GCA398352181SLC46A1c.382G>C (p.Ala128Pro)
n.67+366G>C
n.436G>C
c.118G>C (p.Ala40Pro)
c.160G>C (p.Ala54Pro)
17g.28405315C>TCA398352180SLC46A1c.382G>A (p.Ala128Thr)
n.67+366G>A
n.436G>A
c.118G>A (p.Ala40Thr)
c.160G>A (p.Ala54Thr)
 dbSNP gnomAD v4
17g.28405316C>ACA398352182SLC46A1c.381G>T (p.Gln127His)
n.67+365G>T
n.435G>T
c.117G>T (p.Gln39His)
c.159G>T (p.Gln53His)
 gnomAD v4
17g.28405316C>GCA398352185SLC46A1c.381G>C (p.Gln127His)
n.67+365G>C
n.435G>C
c.117G>C (p.Gln39His)
c.159G>C (p.Gln53His)
17g.28405316C>TCA499420891SLC46A1c.381G>A (p.Gln127=)
n.67+365G>A
n.435G>A
c.117G>A (p.Gln39=)
c.159G>A (p.Gln53=)
17g.28405317T>ACA398352187SLC46A1c.380A>T (p.Gln127Leu)
n.67+364A>T
n.434A>T
c.116A>T (p.Gln39Leu)
c.158A>T (p.Gln53Leu)
 gnomAD v4
17g.28405317T>CCA398352188SLC46A1c.380A>G (p.Gln127Arg)
n.67+364A>G
n.434A>G
c.116A>G (p.Gln39Arg)
c.158A>G (p.Gln53Arg)
 gnomAD v4
17g.28405317T>GCA398352192SLC46A1c.380A>C (p.Gln127Pro)
n.67+364A>C
n.434A>C
c.116A>C (p.Gln39Pro)
c.158A>C (p.Gln53Pro)
17g.28405318G>ACA398352194SLC46A1c.379C>T (p.Gln127Ter)
n.67+363C>T
n.433C>T
c.115C>T (p.Gln39Ter)
c.157C>T (p.Gln53Ter)
17g.28405318G>CCA398352195SLC46A1c.379C>G (p.Gln127Glu)
n.67+363C>G
n.433C>G
c.115C>G (p.Gln39Glu)
c.157C>G (p.Gln53Glu)
17g.28405318G>TCA398352197SLC46A1c.379C>A (p.Gln127Lys)
n.67+363C>A
n.433C>A
c.115C>A (p.Gln39Lys)
c.157C>A (p.Gln53Lys)
 gnomAD v4
17g.28405319G>ACA8458341SLC46A1c.378C>T (p.Leu126=)
n.67+362C>T
n.432C>T
c.114C>T (p.Leu38=)
c.156C>T (p.Leu52=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28405319G>CCA499420907SLC46A1c.378C>G (p.Leu126=)
n.67+362C>G
n.432C>G
c.114C>G (p.Leu38=)
c.156C>G (p.Leu52=)
17g.28405319G=CA2254288699SLC46A1c.378C= (p.Leu126=)
n.67+362C=
n.432C=
c.114C= (p.Leu38=)
c.156C= (p.Leu52=)
17g.28405319G>TCA499420909SLC46A1c.378C>A (p.Leu126=)
n.67+362C>A
n.432C>A
c.114C>A (p.Leu38=)
c.156C>A (p.Leu52=)
 gnomAD v4
17g.28405320A>CCA398352205SLC46A1c.377T>G (p.Leu126Arg)
n.67+361T>G
n.431T>G
c.113T>G (p.Leu38Arg)
c.155T>G (p.Leu52Arg)
17g.28405320A>GCA398352206SLC46A1c.377T>C (p.Leu126Pro)
n.67+361T>C
n.431T>C
c.113T>C (p.Leu38Pro)
c.155T>C (p.Leu52Pro)
17g.28405320A>TCA398352201SLC46A1c.377T>A (p.Leu126His)
n.67+361T>A
n.431T>A
c.113T>A (p.Leu38His)
c.155T>A (p.Leu52His)
 gnomAD v4
17g.28405321G>ACA398352209SLC46A1c.376C>T (p.Leu126Phe)
n.67+360C>T
n.430C>T
c.112C>T (p.Leu38Phe)
c.154C>T (p.Leu52Phe)
17g.28405321G>CCA398352210SLC46A1c.376C>G (p.Leu126Val)
n.67+360C>G
n.430C>G
c.112C>G (p.Leu38Val)
c.154C>G (p.Leu52Val)
 dbSNP gnomAD v4
17g.28405321G=CA2254288700SLC46A1c.376C= (p.Leu126=)
n.67+360C=
n.430C=
c.112C= (p.Leu38=)
c.154C= (p.Leu52=)
17g.28405321G>TCA398352214SLC46A1c.376C>A (p.Leu126Ile)
n.67+360C>A
n.430C>A
c.112C>A (p.Leu38Ile)
c.154C>A (p.Leu52Ile)
 gnomAD v4
17g.28405322C>ACA499420929SLC46A1c.375G>T (p.Leu125=)
n.67+359G>T
n.429G>T
c.111G>T (p.Leu37=)
c.153G>T (p.Leu51=)
 gnomAD v4
17g.28405322C=CA2254288701SLC46A1c.375G= (p.Leu125=)
n.67+359G=
n.429G=
c.111G= (p.Leu37=)
c.153G= (p.Leu51=)
17g.28405322C>GCA499420927SLC46A1c.375G>C (p.Leu125=)
n.67+359G>C
n.429G>C
c.111G>C (p.Leu37=)
c.153G>C (p.Leu51=)
17g.28405322C>TCA499420925SLC46A1c.375G>A (p.Leu125=)
n.67+359G>A
n.429G>A
c.111G>A (p.Leu37=)
c.153G>A (p.Leu51=)
 dbSNP gnomAD v4
17g.28405323A>CCA398352216SLC46A1c.374T>G (p.Leu125Arg)
n.67+358T>G
n.428T>G
c.110T>G (p.Leu37Arg)
c.152T>G (p.Leu51Arg)
17g.28405323A>GCA398352218SLC46A1c.374T>C (p.Leu125Pro)
n.67+358T>C
n.428T>C
c.110T>C (p.Leu37Pro)
c.152T>C (p.Leu51Pro)
17g.28405323A>TCA398352220SLC46A1c.374T>A (p.Leu125Gln)
n.67+358T>A
n.428T>A
c.110T>A (p.Leu37Gln)
c.152T>A (p.Leu51Gln)
17g.28405324G>ACA499420941SLC46A1c.373C>T (p.Leu125=)
n.67+357C>T
n.427C>T
c.109C>T (p.Leu37=)
c.151C>T (p.Leu51=)
 gnomAD v4
17g.28405324G>CCA398352227SLC46A1c.373C>G (p.Leu125Val)
n.67+357C>G
n.427C>G
c.109C>G (p.Leu37Val)
c.151C>G (p.Leu51Val)
17g.28405324G>TCA398352229SLC46A1c.373C>A (p.Leu125Met)
n.67+357C>A
n.427C>A
c.109C>A (p.Leu37Met)
c.151C>A (p.Leu51Met)
 gnomAD v4
17g.28405325C>ACA499420953SLC46A1c.372G>T (p.Leu124=)
n.67+356G>T
n.426G>T
c.108G>T (p.Leu36=)
c.150G>T (p.Leu50=)
 gnomAD v4
17g.28405325C>GCA499420950SLC46A1c.372G>C (p.Leu124=)
n.67+356G>C
n.426G>C
c.108G>C (p.Leu36=)
c.150G>C (p.Leu50=)
17g.28405325C>TCA499420949SLC46A1c.372G>A (p.Leu124=)
n.67+356G>A
n.426G>A
c.108G>A (p.Leu36=)
c.150G>A (p.Leu50=)
17g.28405326A>CCA398352231SLC46A1c.371T>G (p.Leu124Arg)
n.67+355T>G
n.425T>G
c.107T>G (p.Leu36Arg)
c.149T>G (p.Leu50Arg)
17g.28405326A>GCA398352237SLC46A1c.371T>C (p.Leu124Pro)
n.67+355T>C
n.425T>C
c.107T>C (p.Leu36Pro)
c.149T>C (p.Leu50Pro)
 gnomAD v4
17g.28405326A>TCA398352240SLC46A1c.371T>A (p.Leu124Gln)
n.67+355T>A
n.425T>A
c.107T>A (p.Leu36Gln)
c.149T>A (p.Leu50Gln)
17g.28405326_28405327delinsAGCA2254288702SLC46A1c.370_371delinsCT (p.Leu124=)
n.67+354_67+355delinsCT
n.424_425delinsCT
c.106_107delinsCT (p.Leu36=)
c.148_149delinsCT (p.Leu50=)
17g.28405327G>ACA499420958SLC46A1c.370C>T (p.Leu124=)
n.67+354C>T
n.424C>T
c.106C>T (p.Leu36=)
c.148C>T (p.Leu50=)
17g.28405327G>CCA8458342SLC46A1c.370C>G (p.Leu124Val)
n.67+354C>G
n.424C>G
c.106C>G (p.Leu36Val)
c.148C>G (p.Leu50Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28405327G=CA2254288704SLC46A1c.370C= (p.Leu124=)
n.67+354C=
n.424C=
c.106C= (p.Leu36=)
c.148C= (p.Leu50=)
17g.28405327G>TCA398352244SLC46A1c.370C>A (p.Leu124Met)
n.67+354C>A
n.424C>A
c.106C>A (p.Leu36Met)
c.148C>A (p.Leu50Met)
 gnomAD v4
17g.28405328delCA2254288703SLC46A1c.370del (p.Leu124CysfsTer6)
n.67+354del
n.424del
c.106del (p.Leu36CysfsTer6)
c.148del (p.Leu50CysfsTer6)
 dbSNP
17g.28405328G>ACA499420965SLC46A1c.369C>T (p.Gly123=)
n.67+353C>T
n.423C>T
c.105C>T (p.Gly35=)
c.147C>T (p.Gly49=)
 gnomAD v4
17g.28405328G>CCA499420969SLC46A1c.369C>G (p.Gly123=)
n.67+353C>G
n.423C>G
c.105C>G (p.Gly35=)
c.147C>G (p.Gly49=)
17g.28405328G>TCA499420967SLC46A1c.369C>A (p.Gly123=)
n.67+353C>A
n.423C>A
c.105C>A (p.Gly35=)
c.147C>A (p.Gly49=)
 gnomAD v4
17g.28405329C>ACA398352252SLC46A1c.368G>T (p.Gly123Val)
n.67+352G>T
n.422G>T
c.104G>T (p.Gly35Val)
c.146G>T (p.Gly49Val)
 gnomAD v4
17g.28405329C>GCA398352250SLC46A1c.368G>C (p.Gly123Ala)
n.67+352G>C
n.422G>C
c.104G>C (p.Gly35Ala)
c.146G>C (p.Gly49Ala)
17g.28405329C>TCA398352248SLC46A1c.368G>A (p.Gly123Asp)
n.67+352G>A
n.422G>A
c.104G>A (p.Gly35Asp)
c.146G>A (p.Gly49Asp)
 gnomAD v4
17g.28405331delCA2636825041SLC46A1c.368del (p.Gly123AlafsTer7)
n.67+352del
n.422del
c.104del (p.Gly35AlafsTer7)
c.146del (p.Gly49AlafsTer7)
 gnomAD v4
17g.28405330C>ACA398352256SLC46A1c.367G>T (p.Gly123Cys)
n.67+351G>T
n.421G>T
c.103G>T (p.Gly35Cys)
c.145G>T (p.Gly49Cys)
 gnomAD v4
17g.28405330C>GCA398352258SLC46A1c.367G>C (p.Gly123Arg)
n.67+351G>C
n.421G>C
c.103G>C (p.Gly35Arg)
c.145G>C (p.Gly49Arg)
17g.28405330C>TCA398352260SLC46A1c.367G>A (p.Gly123Ser)
n.67+351G>A
n.421G>A
c.103G>A (p.Gly35Ser)
c.145G>A (p.Gly49Ser)
 gnomAD v4
17g.28405331C>ACA499420986SLC46A1c.366G>T (p.Leu122=)
n.67+350G>T
n.420G>T
c.102G>T (p.Leu34=)
c.144G>T (p.Leu48=)
 gnomAD v4
17g.28405331C=CA2254288705SLC46A1c.366G= (p.Leu122=)
n.67+350G=
n.420G=
c.102G= (p.Leu34=)
c.144G= (p.Leu48=)
17g.28405331C>GCA499420987SLC46A1c.366G>C (p.Leu122=)
n.67+350G>C
n.420G>C
c.102G>C (p.Leu34=)
c.144G>C (p.Leu48=)
17g.28405331C>TCA289114263SLC46A1c.366G>A (p.Leu122=)
n.67+350G>A
n.420G>A
c.102G>A (p.Leu34=)
c.144G>A (p.Leu48=)
 dbSNP gnomAD v4

Number of alleles fetched