Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.46725122_46725126dupCA2653170731SLC2A10c.86_90dup (p.Gly31TyrfsTer14)
n.238_242dup
c.149_153dup (p.Gly52TyrfsTer14)
c.95_99dup (p.Gly34TyrfsTer14)
n.285_289dup
n.272_276dup
gnomAD v4
20g.46725126A=CA2366796046SLC2A10c.90A= (p.Ser30=)
n.242A=
c.153A= (p.Ser51=)
c.99A= (p.Ser33=)
n.289A=
n.276A=
20g.46725126A>CCA510770876SLC2A10c.90A>C (p.Ser30=)
n.242A>C
c.153A>C (p.Ser51=)
c.99A>C (p.Ser33=)
n.289A>C
n.276A>C
20g.46725126A>GCA510770877SLC2A10c.90A>G (p.Ser30=)
n.242A>G
c.153A>G (p.Ser51=)
c.99A>G (p.Ser33=)
n.289A>G
n.276A>G
dbSNP gnomAD v2
20g.46725126A>TCA510770878SLC2A10c.90A>T (p.Ser30=)
n.242A>T
c.153A>T (p.Ser51=)
c.99A>T (p.Ser33=)
n.289A>T
n.276A>T
20g.46725127G>ACA409266323SLC2A10c.91G>A (p.Gly31Ser)
n.243G>A
c.154G>A (p.Gly52Ser)
c.100G>A (p.Gly34Ser)
n.290G>A
n.277G>A
20g.46725127G>CCA409266324SLC2A10c.91G>C (p.Gly31Arg)
n.243G>C
c.154G>C (p.Gly52Arg)
c.100G>C (p.Gly34Arg)
n.290G>C
n.277G>C
20g.46725127G>TCA409266325SLC2A10c.91G>T (p.Gly31Cys)
n.243G>T
c.154G>T (p.Gly52Cys)
c.100G>T (p.Gly34Cys)
n.290G>T
n.277G>T
20g.46725128G>ACA409266326SLC2A10c.92G>A (p.Gly31Asp)
n.244G>A
c.155G>A (p.Gly52Asp)
c.101G>A (p.Gly34Asp)
n.291G>A
n.278G>A
dbSNP
20g.46725128G>CCA409266327SLC2A10c.92G>C (p.Gly31Ala)
n.244G>C
c.155G>C (p.Gly52Ala)
c.101G>C (p.Gly34Ala)
n.291G>C
n.278G>C
20g.46725128G=CA2366796047SLC2A10c.92G= (p.Gly31=)
n.244G=
c.155G= (p.Gly52=)
c.101G= (p.Gly34=)
n.291G=
n.278G=
20g.46725128G>TCA409266328SLC2A10c.92G>T (p.Gly31Val)
n.244G>T
c.155G>T (p.Gly52Val)
c.101G>T (p.Gly34Val)
n.291G>T
n.278G>T
20g.46725129delCA2653170732SLC2A10c.93del (p.Ala32ProfsTer11)
n.245del
c.156del (p.Ala53ProfsTer11)
c.102del (p.Ala35ProfsTer11)
n.292del
n.279del
gnomAD v4
20g.46725129T>ACA510770883SLC2A10c.93T>A (p.Gly31=)
n.245T>A
c.156T>A (p.Gly52=)
c.102T>A (p.Gly34=)
n.292T>A
n.279T>A
20g.46725129T>CCA510770884SLC2A10c.93T>C (p.Gly31=)
n.245T>C
c.156T>C (p.Gly52=)
c.102T>C (p.Gly34=)
n.292T>C
n.279T>C
gnomAD v4
20g.46725129T>GCA510770885SLC2A10c.93T>G (p.Gly31=)
n.245T>G
c.156T>G (p.Gly52=)
c.102T>G (p.Gly34=)
n.292T>G
n.279T>G
20g.46725130G>ACA409266329SLC2A10c.94G>A (p.Ala32Thr)
n.246G>A
c.157G>A (p.Ala53Thr)
c.103G>A (p.Ala35Thr)
n.293G>A
n.280G>A
COSMIC
20g.46725130G>CCA409266331SLC2A10c.94G>C (p.Ala32Pro)
n.246G>C
c.157G>C (p.Ala53Pro)
c.103G>C (p.Ala35Pro)
n.293G>C
n.280G>C
20g.46725130G>TCA409266330SLC2A10c.94G>T (p.Ala32Ser)
n.246G>T
c.157G>T (p.Ala53Ser)
c.103G>T (p.Ala35Ser)
n.293G>T
n.280G>T
20g.46725131C>ACA409266332SLC2A10c.95C>A (p.Ala32Asp)
n.247C>A
c.158C>A (p.Ala53Asp)
c.104C>A (p.Ala35Asp)
n.294C>A
n.281C>A
20g.46725131C=CA2366796048SLC2A10c.95C= (p.Ala32=)
n.247C=
c.158C= (p.Ala53=)
c.104C= (p.Ala35=)
n.294C=
n.281C=
20g.46725131C>GCA409266333SLC2A10c.95C>G (p.Ala32Gly)
n.247C>G
c.158C>G (p.Ala53Gly)
c.104C>G (p.Ala35Gly)
n.294C>G
n.281C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.46725131C>TCA409266334SLC2A10c.95C>T (p.Ala32Val)
n.247C>T
c.158C>T (p.Ala53Val)
c.104C>T (p.Ala35Val)
n.294C>T
n.281C>T
dbSNP gnomAD v4
20g.46725132C>ACA510770887SLC2A10c.96C>A (p.Ala32=)
n.248C>A
c.159C>A (p.Ala53=)
c.105C>A (p.Ala35=)
n.295C>A
n.282C>A
20g.46725132C=CA2366796049SLC2A10c.96C= (p.Ala32=)
n.248C=
c.159C= (p.Ala53=)
c.105C= (p.Ala35=)
n.295C=
n.282C=
20g.46725132C>GCA510770888SLC2A10c.96C>G (p.Ala32=)
n.248C>G
c.159C>G (p.Ala53=)
c.105C>G (p.Ala35=)
n.295C>G
n.282C>G
dbSNP
20g.46725132C>TCA9891912SLC2A10c.96C>T (p.Ala32=)
n.248C>T
c.159C>T (p.Ala53=)
c.105C>T (p.Ala35=)
n.295C>T
n.282C>T
dbSNP ExAC gnomAD v2
20g.46725133C>ACA409266335SLC2A10c.97C>A (p.Leu33Met)
n.249C>A
c.160C>A (p.Leu54Met)
c.106C>A (p.Leu36Met)
n.296C>A
n.283C>A
20g.46725133C>GCA409266336SLC2A10c.97C>G (p.Leu33Val)
n.249C>G
c.160C>G (p.Leu54Val)
c.106C>G (p.Leu36Val)
n.296C>G
n.283C>G
20g.46725133C>TCA510770891SLC2A10c.97C>T (p.Leu33=)
n.249C>T
c.160C>T (p.Leu54=)
c.106C>T (p.Leu36=)
n.296C>T
n.283C>T
20g.46725134T>ACA409266337SLC2A10c.98T>A (p.Leu33Gln)
n.250T>A
c.161T>A (p.Leu54Gln)
c.107T>A (p.Leu36Gln)
n.297T>A
n.284T>A
20g.46725134T>CCA409266338SLC2A10c.98T>C (p.Leu33Pro)
n.250T>C
c.161T>C (p.Leu54Pro)
c.107T>C (p.Leu36Pro)
n.297T>C
n.284T>C
gnomAD v4
20g.46725134T>GCA409266339SLC2A10c.98T>G (p.Leu33Arg)
n.250T>G
c.161T>G (p.Leu54Arg)
c.107T>G (p.Leu36Arg)
n.297T>G
n.284T>G
20g.46725135G>ACA510770893SLC2A10c.99G>A (p.Leu33=)
n.251G>A
c.162G>A (p.Leu54=)
c.108G>A (p.Leu36=)
n.298G>A
n.285G>A
gnomAD v4
20g.46725135G>CCA510770895SLC2A10c.99G>C (p.Leu33=)
n.251G>C
c.162G>C (p.Leu54=)
c.108G>C (p.Leu36=)
n.298G>C
n.285G>C
dbSNP gnomAD v2 gnomAD v4
20g.46725135G=CA2366796050SLC2A10c.99G= (p.Leu33=)
n.251G=
c.162G= (p.Leu54=)
c.108G= (p.Leu36=)
n.298G=
n.285G=
20g.46725135G>TCA510770896SLC2A10c.99G>T (p.Leu33=)
n.251G>T
c.162G>T (p.Leu54=)
c.108G>T (p.Leu36=)
n.298G>T
n.285G>T
20g.46725136C>ACA409266340SLC2A10c.100C>A (p.Leu34Met)
n.252C>A
c.163C>A (p.Leu55Met)
c.109C>A (p.Leu37Met)
n.299C>A
n.286C>A
20g.46725136C>GCA409266341SLC2A10c.100C>G (p.Leu34Val)
n.252C>G
c.163C>G (p.Leu55Val)
c.109C>G (p.Leu37Val)
n.299C>G
n.286C>G
20g.46725136C>TCA510770900SLC2A10c.100C>T (p.Leu34=)
n.252C>T
c.163C>T (p.Leu55=)
c.109C>T (p.Leu37=)
n.299C>T
n.286C>T
COSMIC
20g.46725137T>ACA409266343SLC2A10c.101T>A (p.Leu34Gln)
n.253T>A
c.164T>A (p.Leu55Gln)
c.110T>A (p.Leu37Gln)
n.300T>A
n.287T>A
20g.46725137T>CCA409266344SLC2A10c.101T>C (p.Leu34Pro)
n.253T>C
c.164T>C (p.Leu55Pro)
c.110T>C (p.Leu37Pro)
n.300T>C
n.287T>C
20g.46725137T>GCA409266342SLC2A10c.101T>G (p.Leu34Arg)
n.253T>G
c.164T>G (p.Leu55Arg)
c.110T>G (p.Leu37Arg)
n.300T>G
n.287T>G
20g.46725138G>ACA510770902SLC2A10c.102G>A (p.Leu34=)
n.254G>A
c.165G>A (p.Leu55=)
c.111G>A (p.Leu37=)
n.301G>A
n.288G>A
gnomAD v4
20g.46725138G>CCA510770903SLC2A10c.102G>C (p.Leu34=)
n.254G>C
c.165G>C (p.Leu55=)
c.111G>C (p.Leu37=)
n.301G>C
n.288G>C
20g.46725138G>TCA510770904SLC2A10c.102G>T (p.Leu34=)
n.254G>T
c.165G>T (p.Leu55=)
c.111G>T (p.Leu37=)
n.301G>T
n.288G>T
20g.46725139C>ACA409266347SLC2A10c.103C>A (p.Pro35Thr)
n.255C>A
c.166C>A (p.Pro56Thr)
c.112C>A (p.Pro38Thr)
n.302C>A
n.289C>A
20g.46725139C=CA2366796051SLC2A10c.103C= (p.Pro35=)
n.255C=
c.166C= (p.Pro56=)
c.112C= (p.Pro38=)
n.302C=
n.289C=
20g.46725139C>GCA409266345SLC2A10c.103C>G (p.Pro35Ala)
n.255C>G
c.166C>G (p.Pro56Ala)
c.112C>G (p.Pro38Ala)
n.302C>G
n.289C>G
20g.46725139C>TCA409266346SLC2A10c.103C>T (p.Pro35Ser)
n.255C>T
c.166C>T (p.Pro56Ser)
c.112C>T (p.Pro38Ser)
n.302C>T
n.289C>T
dbSNP
20g.46725140C>ACA409266348SLC2A10c.104C>A (p.Pro35Gln)
n.256C>A
c.167C>A (p.Pro56Gln)
c.113C>A (p.Pro38Gln)
n.303C>A
n.290C>A
20g.46725140C=CA2366796052SLC2A10c.104C= (p.Pro35=)
n.256C=
c.167C= (p.Pro56=)
c.113C= (p.Pro38=)
n.303C=
n.290C=
20g.46725140C>GCA409266349SLC2A10c.104C>G (p.Pro35Arg)
n.256C>G
c.167C>G (p.Pro56Arg)
c.113C>G (p.Pro38Arg)
n.303C>G
n.290C>G
20g.46725140C>TCA9891913SLC2A10c.104C>T (p.Pro35Leu)
n.256C>T
c.167C>T (p.Pro56Leu)
c.113C>T (p.Pro38Leu)
n.303C>T
n.290C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725141A>CCA510770906SLC2A10c.105A>C (p.Pro35=)
n.257A>C
c.168A>C (p.Pro56=)
c.114A>C (p.Pro38=)
n.304A>C
n.291A>C
20g.46725141A>GCA510770907SLC2A10c.105A>G (p.Pro35=)
n.257A>G
c.168A>G (p.Pro56=)
c.114A>G (p.Pro38=)
n.304A>G
n.291A>G
20g.46725141A>TCA510770908SLC2A10c.105A>T (p.Pro35=)
n.257A>T
c.168A>T (p.Pro56=)
c.114A>T (p.Pro38=)
n.304A>T
n.291A>T
20g.46725141dupCA2816531377SLC2A10c.105dup (p.Leu36ThrfsTer4)
n.257dup
c.168dup (p.Leu57ThrfsTer4)
c.114dup (p.Leu39ThrfsTer4)
n.304dup
n.291dup
20g.46725142C>ACA409266350SLC2A10c.106C>A (p.Leu36Met)
n.258C>A
c.169C>A (p.Leu57Met)
c.115C>A (p.Leu39Met)
n.305C>A
n.292C>A
COSMIC
20g.46725142C>GCA409266351SLC2A10c.106C>G (p.Leu36Val)
n.258C>G
c.169C>G (p.Leu57Val)
c.115C>G (p.Leu39Val)
n.305C>G
n.292C>G
20g.46725142C>TCA510770909SLC2A10c.106C>T (p.Leu36=)
n.258C>T
c.169C>T (p.Leu57=)
c.115C>T (p.Leu39=)
n.305C>T
n.292C>T
gnomAD v4
20g.46725143T>ACA409266352SLC2A10c.107T>A (p.Leu36Gln)
n.259T>A
c.170T>A (p.Leu57Gln)
c.116T>A (p.Leu39Gln)
n.306T>A
n.293T>A
20g.46725143T>CCA409266353SLC2A10c.107T>C (p.Leu36Pro)
n.259T>C
c.170T>C (p.Leu57Pro)
c.116T>C (p.Leu39Pro)
n.306T>C
n.293T>C
20g.46725143T>GCA409266354SLC2A10c.107T>G (p.Leu36Arg)
n.259T>G
c.170T>G (p.Leu57Arg)
c.116T>G (p.Leu39Arg)
n.306T>G
n.293T>G
20g.46725144G>ACA510770913SLC2A10c.108G>A (p.Leu36=)
n.260G>A
c.171G>A (p.Leu57=)
c.117G>A (p.Leu39=)
n.307G>A
n.294G>A
20g.46725144G>CCA510770914SLC2A10c.108G>C (p.Leu36=)
n.260G>C
c.171G>C (p.Leu57=)
c.117G>C (p.Leu39=)
n.307G>C
n.294G>C
20g.46725144G>TCA510770915SLC2A10c.108G>T (p.Leu36=)
n.260G>T
c.171G>T (p.Leu57=)
c.117G>T (p.Leu39=)
n.307G>T
n.294G>T
20g.46725145C>ACA409266355SLC2A10c.109C>A (p.Gln37Lys)
n.261C>A
c.172C>A (p.Gln58Lys)
c.118C>A (p.Gln40Lys)
n.308C>A
n.295C>A
gnomAD v4
20g.46725145C>GCA409266356SLC2A10c.109C>G (p.Gln37Glu)
n.261C>G
c.172C>G (p.Gln58Glu)
c.118C>G (p.Gln40Glu)
n.308C>G
n.295C>G
20g.46725145C>TCA409266357SLC2A10c.109C>T (p.Gln37Ter)
n.261C>T
c.172C>T (p.Gln58Ter)
c.118C>T (p.Gln40Ter)
n.308C>T
n.295C>T
gnomAD v4
20g.46725145_46725157delinsCAGCTTGACTTTGCA2366796053SLC2A10c.109_121delinsCAGCTTGACTTTG (p.Gln37=)
n.261_273delinsCAGCTTGACTTTG
c.172_184delinsCAGCTTGACTTTG (p.Gln58=)
c.118_130delinsCAGCTTGACTTTG (p.Gln40=)
n.308_320delinsCAGCTTGACTTTG
n.295_307delinsCAGCTTGACTTTG
20g.46725146A>CCA409266360SLC2A10c.110A>C (p.Gln37Pro)
n.262A>C
c.173A>C (p.Gln58Pro)
c.119A>C (p.Gln40Pro)
n.309A>C
n.296A>C
20g.46725146A>GCA409266358SLC2A10c.110A>G (p.Gln37Arg)
n.262A>G
c.173A>G (p.Gln58Arg)
c.119A>G (p.Gln40Arg)
n.309A>G
n.296A>G
20g.46725146A>TCA409266359SLC2A10c.110A>T (p.Gln37Leu)
n.262A>T
c.173A>T (p.Gln58Leu)
c.119A>T (p.Gln40Leu)
n.309A>T
n.296A>T
20g.46725146_46725157delCA9891914SLC2A10c.110_121del (p.Gln37_Gly41delinsArg)
n.262_273del
c.173_184del (p.Gln58_Gly62delinsArg)
c.119_130del (p.Gln40_Gly44delinsArg)
n.309_320del
n.296_307del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725147G>ACA510770919SLC2A10c.111G>A (p.Gln37=)
n.263G>A
c.174G>A (p.Gln58=)
c.120G>A (p.Gln40=)
n.310G>A
n.297G>A
20g.46725147G>CCA409266361SLC2A10c.111G>C (p.Gln37His)
n.263G>C
c.174G>C (p.Gln58His)
c.120G>C (p.Gln40His)
n.310G>C
n.297G>C
20g.46725147G>TCA409266362SLC2A10c.111G>T (p.Gln37His)
n.263G>T
c.174G>T (p.Gln58His)
c.120G>T (p.Gln40His)
n.310G>T
n.297G>T
20g.46725148C>ACA409266363SLC2A10c.112C>A (p.Leu38Ile)
n.264C>A
c.175C>A (p.Leu59Ile)
c.121C>A (p.Leu41Ile)
n.311C>A
n.298C>A
20g.46725148C=CA2366796054SLC2A10c.112C= (p.Leu38=)
n.264C=
c.175C= (p.Leu59=)
c.121C= (p.Leu41=)
n.311C=
n.298C=
20g.46725148C>GCA409266364SLC2A10c.112C>G (p.Leu38Val)
n.264C>G
c.175C>G (p.Leu59Val)
c.121C>G (p.Leu41Val)
n.311C>G
n.298C>G
20g.46725148C>TCA409266365SLC2A10c.112C>T (p.Leu38Phe)
n.264C>T
c.175C>T (p.Leu59Phe)
c.121C>T (p.Leu41Phe)
n.311C>T
n.298C>T
dbSNP gnomAD v3 gnomAD v4
20g.46725149T>ACA409266366SLC2A10c.113T>A (p.Leu38His)
n.265T>A
c.176T>A (p.Leu59His)
c.122T>A (p.Leu41His)
n.312T>A
n.299T>A
20g.46725149T>CCA409266367SLC2A10c.113T>C (p.Leu38Pro)
n.265T>C
c.176T>C (p.Leu59Pro)
c.122T>C (p.Leu41Pro)
n.312T>C
n.299T>C
20g.46725149T>GCA409266368SLC2A10c.113T>G (p.Leu38Arg)
n.265T>G
c.176T>G (p.Leu59Arg)
c.122T>G (p.Leu41Arg)
n.312T>G
n.299T>G
20g.46725150T>ACA510770920SLC2A10c.114T>A (p.Leu38=)
n.266T>A
c.177T>A (p.Leu59=)
c.123T>A (p.Leu41=)
n.313T>A
n.300T>A
20g.46725150T>CCA510770921SLC2A10c.114T>C (p.Leu38=)
n.266T>C
c.177T>C (p.Leu59=)
c.123T>C (p.Leu41=)
n.313T>C
n.300T>C
20g.46725150T>GCA510770922SLC2A10c.114T>G (p.Leu38=)
n.266T>G
c.177T>G (p.Leu59=)
c.123T>G (p.Leu41=)
n.313T>G
n.300T>G
ClinVar dbSNP
20g.46725151G>ACA9891915SLC2A10c.115G>A (p.Asp39Asn)
n.267G>A
c.178G>A (p.Asp60Asn)
c.124G>A (p.Asp42Asn)
n.314G>A
n.301G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725151G>CCA409266369SLC2A10c.115G>C (p.Asp39His)
n.267G>C
c.178G>C (p.Asp60His)
c.124G>C (p.Asp42His)
n.314G>C
n.301G>C
20g.46725151G=CA2366796055SLC2A10c.115G= (p.Asp39=)
n.267G=
c.178G= (p.Asp60=)
c.124G= (p.Asp42=)
n.314G=
n.301G=
20g.46725151G>TCA409266370SLC2A10c.115G>T (p.Asp39Tyr)
n.267G>T
c.178G>T (p.Asp60Tyr)
c.124G>T (p.Asp42Tyr)
n.314G>T
n.301G>T
20g.46725152A=CA2366796056SLC2A10c.116A= (p.Asp39=)
n.268A=
c.179A= (p.Asp60=)
c.125A= (p.Asp42=)
n.315A=
n.302A=
20g.46725152A>CCA409266372SLC2A10c.116A>C (p.Asp39Ala)
n.268A>C
c.179A>C (p.Asp60Ala)
c.125A>C (p.Asp42Ala)
n.315A>C
n.302A>C
20g.46725152A>GCA9891916SLC2A10c.116A>G (p.Asp39Gly)
n.268A>G
c.179A>G (p.Asp60Gly)
c.125A>G (p.Asp42Gly)
n.315A>G
n.302A>G
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725152A>TCA409266371SLC2A10c.116A>T (p.Asp39Val)
n.268A>T
c.179A>T (p.Asp60Val)
c.125A>T (p.Asp42Val)
n.315A>T
n.302A>T
20g.46725153C>ACA409266373SLC2A10c.117C>A (p.Asp39Glu)
n.269C>A
c.180C>A (p.Asp60Glu)
c.126C>A (p.Asp42Glu)
n.316C>A
n.303C>A
20g.46725153C>GCA409266374SLC2A10c.117C>G (p.Asp39Glu)
n.269C>G
c.180C>G (p.Asp60Glu)
c.126C>G (p.Asp42Glu)
n.316C>G
n.303C>G
gnomAD v4
20g.46725153C>TCA510847404SLC2A10c.117C>T (p.Asp39=)
n.269C>T
c.180C>T (p.Asp60=)
c.126C>T (p.Asp42=)
n.316C>T
n.303C>T
20g.46725155_46725161delCA2816531378SLC2A10c.119_125del (p.Phe40Ter)
n.271_277del
c.182_188del (p.Phe61Ter)
c.128_134del (p.Phe43Ter)
n.318_324del
n.305_311del
20g.46725154T>ACA409266375SLC2A10c.118T>A (p.Phe40Ile)
n.270T>A
c.181T>A (p.Phe61Ile)
c.127T>A (p.Phe43Ile)
n.317T>A
n.304T>A
20g.46725154T>CCA409266376SLC2A10c.118T>C (p.Phe40Leu)
n.270T>C
c.181T>C (p.Phe61Leu)
c.127T>C (p.Phe43Leu)
n.317T>C
n.304T>C
20g.46725154T>GCA409266377SLC2A10c.118T>G (p.Phe40Val)
n.270T>G
c.181T>G (p.Phe61Val)
c.127T>G (p.Phe43Val)
n.317T>G
n.304T>G
20g.46725155T>ACA409266378SLC2A10c.119T>A (p.Phe40Tyr)
n.271T>A
c.182T>A (p.Phe61Tyr)
c.128T>A (p.Phe43Tyr)
n.318T>A
n.305T>A
20g.46725155T>CCA9891917SLC2A10c.119T>C (p.Phe40Ser)
n.271T>C
c.182T>C (p.Phe61Ser)
c.128T>C (p.Phe43Ser)
n.318T>C
n.305T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725155T>GCA409266379SLC2A10c.119T>G (p.Phe40Cys)
n.271T>G
c.182T>G (p.Phe61Cys)
c.128T>G (p.Phe43Cys)
n.318T>G
n.305T>G
20g.46725155T=CA2366796057SLC2A10c.119T= (p.Phe40=)
n.271T=
c.182T= (p.Phe61=)
c.128T= (p.Phe43=)
n.318T=
n.305T=
20g.46725156T>ACA409266380SLC2A10c.120T>A (p.Phe40Leu)
n.272T>A
c.183T>A (p.Phe61Leu)
c.129T>A (p.Phe43Leu)
n.319T>A
n.306T>A
20g.46725156T>CCA9891918SLC2A10c.120T>C (p.Phe40=)
n.272T>C
c.183T>C (p.Phe61=)
c.129T>C (p.Phe43=)
n.319T>C
n.306T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725156T>GCA409266381SLC2A10c.120T>G (p.Phe40Leu)
n.272T>G
c.183T>G (p.Phe61Leu)
c.129T>G (p.Phe43Leu)
n.319T>G
n.306T>G
20g.46725156T=CA2366796058SLC2A10c.120T= (p.Phe40=)
n.272T=
c.183T= (p.Phe61=)
c.129T= (p.Phe43=)
n.319T=
n.306T=
20g.46725157G>ACA409266382SLC2A10c.121G>A (p.Gly41Arg)
n.273G>A
c.184G>A (p.Gly62Arg)
c.130G>A (p.Gly44Arg)
n.320G>A
n.307G>A
20g.46725157G>CCA409266383SLC2A10c.121G>C (p.Gly41Arg)
n.273G>C
c.184G>C (p.Gly62Arg)
c.130G>C (p.Gly44Arg)
n.320G>C
n.307G>C
20g.46725157G>TCA409266384SLC2A10c.121G>T (p.Gly41Trp)
n.273G>T
c.184G>T (p.Gly62Trp)
c.130G>T (p.Gly44Trp)
n.320G>T
n.307G>T
20g.46725158G>ACA409266387SLC2A10c.122G>A (p.Gly41Glu)
n.274G>A
c.185G>A (p.Gly62Glu)
c.131G>A (p.Gly44Glu)
n.321G>A
n.308G>A
gnomAD v4
20g.46725158G>CCA409266386SLC2A10c.122G>C (p.Gly41Ala)
n.274G>C
c.185G>C (p.Gly62Ala)
c.131G>C (p.Gly44Ala)
n.321G>C
n.308G>C
20g.46725158G>TCA409266385SLC2A10c.122G>T (p.Gly41Val)
n.274G>T
c.185G>T (p.Gly62Val)
c.131G>T (p.Gly44Val)
n.321G>T
n.308G>T
20g.46725159G>ACA510847405SLC2A10c.123G>A (p.Gly41=)
n.275G>A
c.186G>A (p.Gly62=)
c.132G>A (p.Gly44=)
n.322G>A
n.309G>A
20g.46725159G>CCA510847407SLC2A10c.123G>C (p.Gly41=)
n.275G>C
c.186G>C (p.Gly62=)
c.132G>C (p.Gly44=)
n.322G>C
n.309G>C
20g.46725159G>TCA510847406SLC2A10c.123G>T (p.Gly41=)
n.275G>T
c.186G>T (p.Gly62=)
c.132G>T (p.Gly44=)
n.322G>T
n.309G>T
gnomAD v4
20g.46725160C>ACA409266388SLC2A10c.124C>A (p.Leu42Ile)
n.276C>A
c.187C>A (p.Leu63Ile)
c.133C>A (p.Leu45Ile)
n.323C>A
n.310C>A
20g.46725160C=CA2366796059SLC2A10c.124C= (p.Leu42=)
n.276C=
c.187C= (p.Leu63=)
c.133C= (p.Leu45=)
n.323C=
n.310C=
20g.46725160C>GCA409266389SLC2A10c.124C>G (p.Leu42Val)
n.276C>G
c.187C>G (p.Leu63Val)
c.133C>G (p.Leu45Val)
n.323C>G
n.310C>G
20g.46725160C>TCA510847408SLC2A10c.124C>T (p.Leu42=)
n.276C>T
c.187C>T (p.Leu63=)
c.133C>T (p.Leu45=)
n.323C>T
n.310C>T
dbSNP gnomAD v4
20g.46725161T>ACA409266390SLC2A10c.125T>A (p.Leu42Gln)
n.277T>A
c.188T>A (p.Leu63Gln)
c.134T>A (p.Leu45Gln)
n.324T>A
n.311T>A
20g.46725161T>CCA409266391SLC2A10c.125T>C (p.Leu42Pro)
n.277T>C
c.188T>C (p.Leu63Pro)
c.134T>C (p.Leu45Pro)
n.324T>C
n.311T>C
20g.46725161T>GCA409266392SLC2A10c.125T>G (p.Leu42Arg)
n.277T>G
c.188T>G (p.Leu63Arg)
c.134T>G (p.Leu45Arg)
n.324T>G
n.311T>G
20g.46725162A>CCA510847409SLC2A10c.126A>C (p.Leu42=)
n.278A>C
c.189A>C (p.Leu63=)
c.135A>C (p.Leu45=)
n.325A>C
n.312A>C
20g.46725162A>GCA510847410SLC2A10c.126A>G (p.Leu42=)
n.278A>G
c.189A>G (p.Leu63=)
c.135A>G (p.Leu45=)
n.325A>G
n.312A>G
20g.46725162A>TCA510847411SLC2A10c.126A>T (p.Leu42=)
n.278A>T
c.189A>T (p.Leu63=)
c.135A>T (p.Leu45=)
n.325A>T
n.312A>T
20g.46725163A>CCA409266393SLC2A10c.127A>C (p.Ser43Arg)
n.279A>C
c.190A>C (p.Ser64Arg)
c.136A>C (p.Ser46Arg)
n.326A>C
n.313A>C
20g.46725163A>GCA409266394SLC2A10c.127A>G (p.Ser43Gly)
n.279A>G
c.190A>G (p.Ser64Gly)
c.136A>G (p.Ser46Gly)
n.326A>G
n.313A>G
20g.46725163A>TCA409266395SLC2A10c.127A>T (p.Ser43Cys)
n.279A>T
c.190A>T (p.Ser64Cys)
c.136A>T (p.Ser46Cys)
n.326A>T
n.313A>T
20g.46725164G>ACA409266396SLC2A10c.128G>A (p.Ser43Asn)
n.280G>A
c.191G>A (p.Ser64Asn)
c.137G>A (p.Ser46Asn)
n.327G>A
n.314G>A
dbSNP gnomAD v2 gnomAD v4
20g.46725164G>CCA409266397SLC2A10c.128G>C (p.Ser43Thr)
n.280G>C
c.191G>C (p.Ser64Thr)
c.137G>C (p.Ser46Thr)
n.327G>C
n.314G>C
20g.46725164G=CA2366796060SLC2A10c.128G= (p.Ser43=)
n.280G=
c.191G= (p.Ser64=)
c.137G= (p.Ser46=)
n.327G=
n.314G=
20g.46725164G>TCA409266398SLC2A10c.128G>T (p.Ser43Ile)
n.280G>T
c.191G>T (p.Ser64Ile)
c.137G>T (p.Ser46Ile)
n.327G>T
n.314G>T
20g.46725165C>ACA409266399SLC2A10c.129C>A (p.Ser43Arg)
n.281C>A
c.192C>A (p.Ser64Arg)
c.138C>A (p.Ser46Arg)
n.328C>A
n.315C>A
20g.46725165C=CA2366796061SLC2A10c.129C= (p.Ser43=)
n.281C=
c.192C= (p.Ser64=)
c.138C= (p.Ser46=)
n.328C=
n.315C=
20g.46725165C>GCA323447SLC2A10c.129C>G (p.Ser43Arg)
n.281C>G
c.192C>G (p.Ser64Arg)
c.138C>G (p.Ser46Arg)
n.328C>G
n.315C>G
ClinVar dbSNP
20g.46725165C>TCA510847412SLC2A10c.129C>T (p.Ser43=)
n.281C>T
c.192C>T (p.Ser64=)
c.138C>T (p.Ser46=)
n.328C>T
n.315C>T
20g.46725166T>ACA409266400SLC2A10c.130T>A (p.Cys44Ser)
n.282T>A
c.193T>A (p.Cys65Ser)
c.139T>A (p.Cys47Ser)
n.329T>A
n.316T>A
20g.46725166T>CCA409266402SLC2A10c.130T>C (p.Cys44Arg)
n.282T>C
c.193T>C (p.Cys65Arg)
c.139T>C (p.Cys47Arg)
n.329T>C
n.316T>C
20g.46725166T>GCA409266401SLC2A10c.130T>G (p.Cys44Gly)
n.282T>G
c.193T>G (p.Cys65Gly)
c.139T>G (p.Cys47Gly)
n.329T>G
n.316T>G
20g.46725167G>ACA409266403SLC2A10c.131G>A (p.Cys44Tyr)
n.283G>A
c.194G>A (p.Cys65Tyr)
c.140G>A (p.Cys47Tyr)
n.330G>A
n.317G>A
20g.46725167G>CCA409266404SLC2A10c.131G>C (p.Cys44Ser)
n.283G>C
c.194G>C (p.Cys65Ser)
c.140G>C (p.Cys47Ser)
n.330G>C
n.317G>C
20g.46725167G=CA2366796062SLC2A10c.131G= (p.Cys44=)
n.283G=
c.194G= (p.Cys65=)
c.140G= (p.Cys47=)
n.330G=
n.317G=
20g.46725167G>TCA9891919SLC2A10c.131G>T (p.Cys44Phe)
n.283G>T
c.194G>T (p.Cys65Phe)
c.140G>T (p.Cys47Phe)
n.330G>T
n.317G>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725168C>ACA409266405SLC2A10c.132C>A (p.Cys44Ter)
n.284C>A
c.195C>A (p.Cys65Ter)
c.141C>A (p.Cys47Ter)
n.331C>A
n.318C>A
20g.46725168C>GCA409266406SLC2A10c.132C>G (p.Cys44Trp)
n.284C>G
c.195C>G (p.Cys65Trp)
c.141C>G (p.Cys47Trp)
n.331C>G
n.318C>G
20g.46725168C>TCA510847413SLC2A10c.132C>T (p.Cys44=)
n.284C>T
c.195C>T (p.Cys65=)
c.141C>T (p.Cys47=)
n.331C>T
n.318C>T
gnomAD v4
20g.46725169T>ACA409266407SLC2A10c.133T>A (p.Leu45Met)
n.285T>A
c.196T>A (p.Leu66Met)
c.142T>A (p.Leu48Met)
n.332T>A
n.319T>A
gnomAD v4
20g.46725169T>CCA510847414SLC2A10c.133T>C (p.Leu45=)
n.285T>C
c.196T>C (p.Leu66=)
c.142T>C (p.Leu48=)
n.332T>C
n.319T>C
20g.46725169T>GCA409266408SLC2A10c.133T>G (p.Leu45Val)
n.285T>G
c.196T>G (p.Leu66Val)
c.142T>G (p.Leu48Val)
n.332T>G
n.319T>G
20g.46725170T>ACA409266409SLC2A10c.134T>A (p.Leu45Ter)
n.286T>A
c.197T>A (p.Leu66Ter)
c.143T>A (p.Leu48Ter)
n.333T>A
n.320T>A
20g.46725170T>CCA409266411SLC2A10c.134T>C (p.Leu45Ser)
n.286T>C
c.197T>C (p.Leu66Ser)
c.143T>C (p.Leu48Ser)
n.333T>C
n.320T>C
20g.46725170T>GCA409266410SLC2A10c.134T>G (p.Leu45Trp)
n.286T>G
c.197T>G (p.Leu66Trp)
c.143T>G (p.Leu48Trp)
n.333T>G
n.320T>G
20g.46725171G>ACA510847415SLC2A10c.135G>A (p.Leu45=)
n.287G>A
c.198G>A (p.Leu66=)
c.144G>A (p.Leu48=)
n.334G>A
n.321G>A
dbSNP
20g.46725171G>CCA409266412SLC2A10c.135G>C (p.Leu45Phe)
n.287G>C
c.198G>C (p.Leu66Phe)
c.144G>C (p.Leu48Phe)
n.334G>C
n.321G>C
20g.46725171G=CA2366796063SLC2A10c.135G= (p.Leu45=)
n.287G=
c.198G= (p.Leu66=)
c.144G= (p.Leu48=)
n.334G=
n.321G=
20g.46725171G>TCA409266413SLC2A10c.135G>T (p.Leu45Phe)
n.287G>T
c.198G>T (p.Leu66Phe)
c.144G>T (p.Leu48Phe)
n.334G>T
n.321G>T
20g.46725172G>ACA409266414SLC2A10c.136G>A (p.Glu46Lys)
n.288G>A
c.199G>A (p.Glu67Lys)
c.145G>A (p.Glu49Lys)
n.335G>A
n.322G>A
20g.46725172G>CCA409266415SLC2A10c.136G>C (p.Glu46Gln)
n.288G>C
c.199G>C (p.Glu67Gln)
c.145G>C (p.Glu49Gln)
n.335G>C
n.322G>C
dbSNP gnomAD v3 gnomAD v4
20g.46725172G=CA2366796064SLC2A10c.136G= (p.Glu46=)
n.288G=
c.199G= (p.Glu67=)
c.145G= (p.Glu49=)
n.335G=
n.322G=
20g.46725172G>TCA409266416SLC2A10c.136G>T (p.Glu46Ter)
n.288G>T
c.199G>T (p.Glu67Ter)
c.145G>T (p.Glu49Ter)
n.335G>T
n.322G>T
20g.46725173A=CA2366796065SLC2A10c.137A= (p.Glu46=)
n.289A=
c.200A= (p.Glu67=)
c.146A= (p.Glu49=)
n.336A=
n.323A=
20g.46725173A>CCA409266417SLC2A10c.137A>C (p.Glu46Ala)
n.289A>C
c.200A>C (p.Glu67Ala)
c.146A>C (p.Glu49Ala)
n.336A>C
n.323A>C
20g.46725173A>GCA9891920SLC2A10c.137A>G (p.Glu46Gly)
n.289A>G
c.200A>G (p.Glu67Gly)
c.146A>G (p.Glu49Gly)
n.336A>G
n.323A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725173A>TCA409266418SLC2A10c.137A>T (p.Glu46Val)
n.289A>T
c.200A>T (p.Glu67Val)
c.146A>T (p.Glu49Val)
n.336A>T
n.323A>T
20g.46725174G>ACA510847416SLC2A10c.138G>A (p.Glu46=)
n.290G>A
c.201G>A (p.Glu67=)
c.147G>A (p.Glu49=)
n.337G>A
n.324G>A
gnomAD v4
20g.46725174G>CCA409266419SLC2A10c.138G>C (p.Glu46Asp)
n.290G>C
c.201G>C (p.Glu67Asp)
c.147G>C (p.Glu49Asp)
n.337G>C
n.324G>C
gnomAD v4
20g.46725174G>TCA409266420SLC2A10c.138G>T (p.Glu46Asp)
n.290G>T
c.201G>T (p.Glu67Asp)
c.147G>T (p.Glu49Asp)
n.337G>T
n.324G>T
20g.46725175C>ACA409266421SLC2A10c.139C>A (p.Gln47Lys)
n.291C>A
c.202C>A (p.Gln68Lys)
c.148C>A (p.Gln50Lys)
n.338C>A
n.325C>A
20g.46725175C>GCA409266422SLC2A10c.139C>G (p.Gln47Glu)
n.291C>G
c.202C>G (p.Gln68Glu)
c.148C>G (p.Gln50Glu)
n.338C>G
n.325C>G
20g.46725175C>TCA409266423SLC2A10c.139C>T (p.Gln47Ter)
n.291C>T
c.202C>T (p.Gln68Ter)
c.148C>T (p.Gln50Ter)
n.338C>T
n.325C>T
20g.46725176A>CCA409266426SLC2A10c.140A>C (p.Gln47Pro)
n.292A>C
c.203A>C (p.Gln68Pro)
c.149A>C (p.Gln50Pro)
n.339A>C
n.326A>C
20g.46725176A>GCA409266424SLC2A10c.140A>G (p.Gln47Arg)
n.292A>G
c.203A>G (p.Gln68Arg)
c.149A>G (p.Gln50Arg)
n.339A>G
n.326A>G
20g.46725176A>TCA409266425SLC2A10c.140A>T (p.Gln47Leu)
n.292A>T
c.203A>T (p.Gln68Leu)
c.149A>T (p.Gln50Leu)
n.339A>T
n.326A>T
20g.46725177G>ACA315755159SLC2A10c.141G>A (p.Gln47=)
n.293G>A
c.204G>A (p.Gln68=)
c.150G>A (p.Gln50=)
n.340G>A
n.327G>A
dbSNP gnomAD v4
20g.46725177G>CCA409266427SLC2A10c.141G>C (p.Gln47His)
n.293G>C
c.204G>C (p.Gln68His)
c.150G>C (p.Gln50His)
n.340G>C
n.327G>C
20g.46725177G=CA2366796066SLC2A10c.141G= (p.Gln47=)
n.293G=
c.204G= (p.Gln68=)
c.150G= (p.Gln50=)
n.340G=
n.327G=
20g.46725177G>TCA409266428SLC2A10c.141G>T (p.Gln47His)
n.293G>T
c.204G>T (p.Gln68His)
c.150G>T (p.Gln50His)
n.340G>T
n.327G>T
20g.46725178G>ACA409266429SLC2A10c.142G>A (p.Glu48Lys)
n.294G>A
c.205G>A (p.Glu69Lys)
c.151G>A (p.Glu51Lys)
n.341G>A
n.328G>A
20g.46725178G>CCA409266430SLC2A10c.142G>C (p.Glu48Gln)
n.294G>C
c.205G>C (p.Glu69Gln)
c.151G>C (p.Glu51Gln)
n.341G>C
n.328G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46725178G=CA2366796067SLC2A10c.142G= (p.Glu48=)
n.294G=
c.205G= (p.Glu69=)
c.151G= (p.Glu51=)
n.341G=
n.328G=
20g.46725178G>TCA409266431SLC2A10c.142G>T (p.Glu48Ter)
n.294G>T
c.205G>T (p.Glu69Ter)
c.151G>T (p.Glu51Ter)
n.341G>T
n.328G>T
20g.46725179A>CCA409266432SLC2A10c.143A>C (p.Glu48Ala)
n.295A>C
c.206A>C (p.Glu69Ala)
c.152A>C (p.Glu51Ala)
n.342A>C
n.329A>C
20g.46725179A>GCA409266433SLC2A10c.143A>G (p.Glu48Gly)
n.295A>G
c.206A>G (p.Glu69Gly)
c.152A>G (p.Glu51Gly)
n.342A>G
n.329A>G
20g.46725179A>TCA409266434SLC2A10c.143A>T (p.Glu48Val)
n.295A>T
c.206A>T (p.Glu69Val)
c.152A>T (p.Glu51Val)
n.342A>T
n.329A>T
gnomAD v4
20g.46725180G>ACA10587932SLC2A10c.144G>A (p.Glu48=)
n.296G>A
c.207G>A (p.Glu69=)
c.153G>A (p.Glu51=)
n.343G>A
n.330G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46725180G>CCA409266435SLC2A10c.144G>C (p.Glu48Asp)
n.296G>C
c.207G>C (p.Glu69Asp)
c.153G>C (p.Glu51Asp)
n.343G>C
n.330G>C
20g.46725180G=CA2366796068SLC2A10c.144G= (p.Glu48=)
n.296G=
c.207G= (p.Glu69=)
c.153G= (p.Glu51=)
n.343G=
n.330G=
20g.46725180G>TCA315755165SLC2A10c.144G>T (p.Glu48Asp)
n.296G>T
c.207G>T (p.Glu69Asp)
c.153G>T (p.Glu51Asp)
n.343G>T
n.330G>T
dbSNP gnomAD v4
20g.46725181T>ACA323587SLC2A10c.145T>A (p.Phe49Ile)
n.297T>A
c.208T>A (p.Phe70Ile)
c.154T>A (p.Phe52Ile)
n.344T>A
n.331T>A
ClinVar dbSNP
20g.46725181T>CCA409266437SLC2A10c.145T>C (p.Phe49Leu)
n.297T>C
c.208T>C (p.Phe70Leu)
c.154T>C (p.Phe52Leu)
n.344T>C
n.331T>C
20g.46725181T>GCA409266436SLC2A10c.145T>G (p.Phe49Val)
n.297T>G
c.208T>G (p.Phe70Val)
c.154T>G (p.Phe52Val)
n.344T>G
n.331T>G
20g.46725181T=CA2366796069SLC2A10c.145T= (p.Phe49=)
n.297T=
c.208T= (p.Phe70=)
c.154T= (p.Phe52=)
n.344T=
n.331T=
20g.46725182T>ACA409266438SLC2A10c.146T>A (p.Phe49Tyr)
n.298T>A
c.209T>A (p.Phe70Tyr)
c.155T>A (p.Phe52Tyr)
n.345T>A
n.332T>A
20g.46725182T>CCA409266439SLC2A10c.146T>C (p.Phe49Ser)
n.298T>C
c.209T>C (p.Phe70Ser)
c.155T>C (p.Phe52Ser)
n.345T>C
n.332T>C
20g.46725182T>GCA409266440SLC2A10c.146T>G (p.Phe49Cys)
n.298T>G
c.209T>G (p.Phe70Cys)
c.155T>G (p.Phe52Cys)
n.345T>G
n.332T>G
20g.46725183C>ACA409266441SLC2A10c.147C>A (p.Phe49Leu)
n.299C>A
c.210C>A (p.Phe70Leu)
c.156C>A (p.Phe52Leu)
n.346C>A
n.333C>A
20g.46725183C=CA2366796070SLC2A10c.147C= (p.Phe49=)
n.299C=
c.210C= (p.Phe70=)
c.156C= (p.Phe52=)
n.346C=
n.333C=
20g.46725183C>GCA409266442SLC2A10c.147C>G (p.Phe49Leu)
n.299C>G
c.210C>G (p.Phe70Leu)
c.156C>G (p.Phe52Leu)
n.346C>G
n.333C>G
ClinVar dbSNP
20g.46725183C>TCA510847417SLC2A10c.147C>T (p.Phe49=)
n.299C>T
c.210C>T (p.Phe70=)
c.156C>T (p.Phe52=)
n.346C>T
n.333C>T
COSMIC
20g.46725184C>ACA409266443SLC2A10c.148C>A (p.Leu50Met)
n.300C>A
c.211C>A (p.Leu71Met)
c.157C>A (p.Leu53Met)
n.347C>A
n.334C>A
20g.46725184C>GCA409266444SLC2A10c.148C>G (p.Leu50Val)
n.300C>G
c.211C>G (p.Leu71Val)
c.157C>G (p.Leu53Val)
n.347C>G
n.334C>G
20g.46725184C>TCA510847418SLC2A10c.148C>T (p.Leu50=)
n.300C>T
c.211C>T (p.Leu71=)
c.157C>T (p.Leu53=)
n.347C>T
n.334C>T
gnomAD v4
20g.46725185T>ACA409266445SLC2A10c.149T>A (p.Leu50Gln)
n.301T>A
c.212T>A (p.Leu71Gln)
c.158T>A (p.Leu53Gln)
n.348T>A
n.335T>A
20g.46725185T>CCA409266446SLC2A10c.149T>C (p.Leu50Pro)
n.301T>C
c.212T>C (p.Leu71Pro)
c.158T>C (p.Leu53Pro)
n.348T>C
n.335T>C
dbSNP
20g.46725185T>GCA409266447SLC2A10c.149T>G (p.Leu50Arg)
n.301T>G
c.212T>G (p.Leu71Arg)
c.158T>G (p.Leu53Arg)
n.348T>G
n.335T>G
20g.46725186G>ACA510847419SLC2A10c.150G>A (p.Leu50=)
n.302G>A
c.213G>A (p.Leu71=)
c.159G>A (p.Leu53=)
n.349G>A
n.336G>A
20g.46725186G>CCA510847421SLC2A10c.150G>C (p.Leu50=)
n.302G>C
c.213G>C (p.Leu71=)
c.159G>C (p.Leu53=)
n.349G>C
n.336G>C
20g.46725186G>TCA510847420SLC2A10c.150G>T (p.Leu50=)
n.302G>T
c.213G>T (p.Leu71=)
c.159G>T (p.Leu53=)
n.349G>T
n.336G>T
20g.46725187G>ACA409266450SLC2A10c.151G>A (p.Val51Met)
n.303G>A
c.214G>A (p.Val72Met)
c.160G>A (p.Val54Met)
n.350G>A
n.337G>A
20g.46725187G>CCA409266449SLC2A10c.151G>C (p.Val51Leu)
n.303G>C
c.214G>C (p.Val72Leu)
c.160G>C (p.Val54Leu)
n.350G>C
n.337G>C
20g.46725187G>TCA409266448SLC2A10c.151G>T (p.Val51Leu)
n.303G>T
c.214G>T (p.Val72Leu)
c.160G>T (p.Val54Leu)
n.350G>T
n.337G>T
20g.46725188T>ACA409266451SLC2A10c.152T>A (p.Val51Glu)
n.304T>A
c.215T>A (p.Val72Glu)
c.161T>A (p.Val54Glu)
n.351T>A
n.338T>A
20g.46725188T>CCA409266452SLC2A10c.152T>C (p.Val51Ala)
n.304T>C
c.215T>C (p.Val72Ala)
c.161T>C (p.Val54Ala)
n.351T>C
n.338T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.46725188T>GCA409266453SLC2A10c.152T>G (p.Val51Gly)
n.304T>G
c.215T>G (p.Val72Gly)
c.161T>G (p.Val54Gly)
n.351T>G
n.338T>G
20g.46725188T=CA2366796071SLC2A10c.152T= (p.Val51=)
n.304T=
c.215T= (p.Val72=)
c.161T= (p.Val54=)
n.351T=
n.338T=
20g.46725189G>ACA510847422SLC2A10c.153G>A (p.Val51=)
n.305G>A
c.216G>A (p.Val72=)
c.162G>A (p.Val54=)
n.352G>A
n.339G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.46725189G>CCA510847423SLC2A10c.153G>C (p.Val51=)
n.305G>C
c.216G>C (p.Val72=)
c.162G>C (p.Val54=)
n.352G>C
n.339G>C
20g.46725189G=CA2366796072SLC2A10c.153G= (p.Val51=)
n.305G=
c.216G= (p.Val72=)
c.162G= (p.Val54=)
n.352G=
n.339G=
20g.46725189G>TCA510847424SLC2A10c.153G>T (p.Val51=)
n.305G>T
c.216G>T (p.Val72=)
c.162G>T (p.Val54=)
n.352G>T
n.339G>T
20g.46725190G>ACA409266454SLC2A10c.154G>A (p.Gly52Ser)
n.306G>A
c.217G>A (p.Gly73Ser)
c.163G>A (p.Gly55Ser)
n.353G>A
n.340G>A
dbSNP
20g.46725190G>CCA409266455SLC2A10c.154G>C (p.Gly52Arg)
n.306G>C
c.217G>C (p.Gly73Arg)
c.163G>C (p.Gly55Arg)
n.353G>C
n.340G>C
20g.46725190G=CA2366796073SLC2A10c.154G= (p.Gly52=)
n.306G=
c.217G= (p.Gly73=)
c.163G= (p.Gly55=)
n.353G=
n.340G=
20g.46725190G>TCA409266456SLC2A10c.154G>T (p.Gly52Cys)
n.306G>T
c.217G>T (p.Gly73Cys)
c.163G>T (p.Gly55Cys)
n.353G>T
n.340G>T
20g.46725191G>ACA409266457SLC2A10c.155G>A (p.Gly52Asp)
n.307G>A
c.218G>A (p.Gly73Asp)
c.164G>A (p.Gly55Asp)
n.354G>A
n.341G>A
gnomAD v4
20g.46725191G>CCA409266458SLC2A10c.155G>C (p.Gly52Ala)
n.307G>C
c.218G>C (p.Gly73Ala)
c.164G>C (p.Gly55Ala)
n.354G>C
n.341G>C
20g.46725191G>TCA409266459SLC2A10c.155G>T (p.Gly52Val)
n.307G>T
c.218G>T (p.Gly73Val)
c.164G>T (p.Gly55Val)
n.354G>T
n.341G>T
20g.46725192C>ACA510847425SLC2A10c.156C>A (p.Gly52=)
n.308C>A
c.219C>A (p.Gly73=)
c.165C>A (p.Gly55=)
n.355C>A
n.342C>A
dbSNP COSMIC
20g.46725192C=CA2366796074SLC2A10c.156C= (p.Gly52=)
n.308C=
c.219C= (p.Gly73=)
c.165C= (p.Gly55=)
n.355C=
n.342C=
20g.46725192C>GCA510847427SLC2A10c.156C>G (p.Gly52=)
n.308C>G
c.219C>G (p.Gly73=)
c.165C>G (p.Gly55=)
n.355C>G
n.342C>G
20g.46725192C>TCA510847426SLC2A10c.156C>T (p.Gly52=)
n.308C>T
c.219C>T (p.Gly73=)
c.165C>T (p.Gly55=)
n.355C>T
n.342C>T
gnomAD v4
20g.46725193A>CCA409266460SLC2A10c.157A>C (p.Ser53Arg)
n.309A>C
c.220A>C (p.Ser74Arg)
c.166A>C (p.Ser56Arg)
n.356A>C
n.343A>C
20g.46725193A>GCA409266461SLC2A10c.157A>G (p.Ser53Gly)
n.309A>G
c.220A>G (p.Ser74Gly)
c.166A>G (p.Ser56Gly)
n.356A>G
n.343A>G
20g.46725193A>TCA409266462SLC2A10c.157A>T (p.Ser53Cys)
n.309A>T
c.220A>T (p.Ser74Cys)
c.166A>T (p.Ser56Cys)
n.356A>T
n.343A>T
20g.46725194G>ACA409266464SLC2A10c.158G>A (p.Ser53Asn)
n.310G>A
c.221G>A (p.Ser74Asn)
c.167G>A (p.Ser56Asn)
n.357G>A
n.344G>A
20g.46725194G>CCA409266465SLC2A10c.158G>C (p.Ser53Thr)
n.310G>C
c.221G>C (p.Ser74Thr)
c.167G>C (p.Ser56Thr)
n.357G>C
n.344G>C
20g.46725194G>TCA409266463SLC2A10c.158G>T (p.Ser53Ile)
n.310G>T
c.221G>T (p.Ser74Ile)
c.167G>T (p.Ser56Ile)
n.357G>T
n.344G>T
20g.46725195C>ACA409266466SLC2A10c.159C>A (p.Ser53Arg)
n.311C>A
c.222C>A (p.Ser74Arg)
c.168C>A (p.Ser56Arg)
n.358C>A
n.345C>A
20g.46725195C=CA2366796075SLC2A10c.159C= (p.Ser53=)
n.311C=
c.222C= (p.Ser74=)
c.168C= (p.Ser56=)
n.358C=
n.345C=
20g.46725195C>GCA409266467SLC2A10c.159C>G (p.Ser53Arg)
n.311C>G
c.222C>G (p.Ser74Arg)
c.168C>G (p.Ser56Arg)
n.358C>G
n.345C>G
20g.46725195C>TCA510847428SLC2A10c.159C>T (p.Ser53=)
n.311C>T
c.222C>T (p.Ser74=)
c.168C>T (p.Ser56=)
n.358C>T
n.345C>T
dbSNP
20g.46725196C>ACA409266468SLC2A10c.160C>A (p.Leu54Met)
n.312C>A
c.223C>A (p.Leu75Met)
c.169C>A (p.Leu57Met)
n.359C>A
n.346C>A
20g.46725196C>GCA409266469SLC2A10c.160C>G (p.Leu54Val)
n.312C>G
c.223C>G (p.Leu75Val)
c.169C>G (p.Leu57Val)
n.359C>G
n.346C>G
20g.46725196C>TCA510847429SLC2A10c.160C>T (p.Leu54=)
n.312C>T
c.223C>T (p.Leu75=)
c.169C>T (p.Leu57=)
n.359C>T
n.346C>T
20g.46725197T>ACA409266470SLC2A10c.161T>A (p.Leu54Gln)
n.313T>A
c.224T>A (p.Leu75Gln)
c.170T>A (p.Leu57Gln)
n.360T>A
n.347T>A
gnomAD v4
20g.46725197T>CCA409266471SLC2A10c.161T>C (p.Leu54Pro)
n.313T>C
c.224T>C (p.Leu75Pro)
c.170T>C (p.Leu57Pro)
n.360T>C
n.347T>C
20g.46725197T>GCA409266472SLC2A10c.161T>G (p.Leu54Arg)
n.313T>G
c.224T>G (p.Leu75Arg)
c.170T>G (p.Leu57Arg)
n.360T>G
n.347T>G
20g.46725198G>ACA510847430SLC2A10c.162G>A (p.Leu54=)
n.314G>A
c.225G>A (p.Leu75=)
c.171G>A (p.Leu57=)
n.361G>A
n.348G>A
20g.46725198G>CCA9891921SLC2A10c.162G>C (p.Leu54=)
n.314G>C
c.225G>C (p.Leu75=)
c.171G>C (p.Leu57=)
n.361G>C
n.348G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725198G=CA2366796076SLC2A10c.162G= (p.Leu54=)
n.314G=
c.225G= (p.Leu75=)
c.171G= (p.Leu57=)
n.361G=
n.348G=
20g.46725198G>TCA510847431SLC2A10c.162G>T (p.Leu54=)
n.314G>T
c.225G>T (p.Leu75=)
c.171G>T (p.Leu57=)
n.361G>T
n.348G>T
20g.46725199C>ACA409266473SLC2A10c.163C>A (p.Leu55Ile)
n.315C>A
c.226C>A (p.Leu76Ile)
c.172C>A (p.Leu58Ile)
n.362C>A
n.349C>A
20g.46725199C=CA2366796077SLC2A10c.163C= (p.Leu55=)
n.315C=
c.226C= (p.Leu76=)
c.172C= (p.Leu58=)
n.362C=
n.349C=
20g.46725199C>GCA409266474SLC2A10c.163C>G (p.Leu55Val)
n.315C>G
c.226C>G (p.Leu76Val)
c.172C>G (p.Leu58Val)
n.362C>G
n.349C>G
20g.46725199C>TCA9891922SLC2A10c.163C>T (p.Leu55Phe)
n.315C>T
c.226C>T (p.Leu76Phe)
c.172C>T (p.Leu58Phe)
n.362C>T
n.349C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725200T>ACA409266475SLC2A10c.164T>A (p.Leu55His)
n.316T>A
c.227T>A (p.Leu76His)
c.173T>A (p.Leu58His)
n.363T>A
n.350T>A
20g.46725200T>CCA409266476SLC2A10c.164T>C (p.Leu55Pro)
n.316T>C
c.227T>C (p.Leu76Pro)
c.173T>C (p.Leu58Pro)
n.363T>C
n.350T>C
ClinVar dbSNP
20g.46725200T>GCA409266477SLC2A10c.164T>G (p.Leu55Arg)
n.316T>G
c.227T>G (p.Leu76Arg)
c.173T>G (p.Leu58Arg)
n.363T>G
n.350T>G
20g.46725200T=CA2366796078SLC2A10c.164T= (p.Leu55=)
n.316T=
c.227T= (p.Leu76=)
c.173T= (p.Leu58=)
n.363T=
n.350T=
20g.46725201C>ACA510847432SLC2A10c.165C>A (p.Leu55=)
n.317C>A
c.228C>A (p.Leu76=)
c.174C>A (p.Leu58=)
n.364C>A
n.351C>A
20g.46725201C=CA2366796079SLC2A10c.165C= (p.Leu55=)
n.317C=
c.228C= (p.Leu76=)
c.174C= (p.Leu58=)
n.364C=
n.351C=
20g.46725201C>GCA510847433SLC2A10c.165C>G (p.Leu55=)
n.317C>G
c.228C>G (p.Leu76=)
c.174C>G (p.Leu58=)
n.364C>G
n.351C>G
20g.46725201C>TCA315755210SLC2A10c.165C>T (p.Leu55=)
n.317C>T
c.228C>T (p.Leu76=)
c.174C>T (p.Leu58=)
n.364C>T
n.351C>T
dbSNP gnomAD v4 COSMIC
20g.46725202C>ACA409266478SLC2A10c.166C>A (p.Leu56Met)
n.318C>A
c.229C>A (p.Leu77Met)
c.175C>A (p.Leu59Met)
n.365C>A
n.352C>A
20g.46725202C>GCA409266479SLC2A10c.166C>G (p.Leu56Val)
n.318C>G
c.229C>G (p.Leu77Val)
c.175C>G (p.Leu59Val)
n.365C>G
n.352C>G
20g.46725202C>TCA510847434SLC2A10c.166C>T (p.Leu56=)
n.318C>T
c.229C>T (p.Leu77=)
c.175C>T (p.Leu59=)
n.365C>T
n.352C>T
gnomAD v4
20g.46725203T>ACA409266480SLC2A10c.167T>A (p.Leu56Gln)
n.319T>A
c.230T>A (p.Leu77Gln)
c.176T>A (p.Leu59Gln)
n.366T>A
n.353T>A
20g.46725203T>CCA409266481SLC2A10c.167T>C (p.Leu56Pro)
n.319T>C
c.230T>C (p.Leu77Pro)
c.176T>C (p.Leu59Pro)
n.366T>C
n.353T>C
20g.46725203T>GCA409266482SLC2A10c.167T>G (p.Leu56Arg)
n.319T>G
c.230T>G (p.Leu77Arg)
c.176T>G (p.Leu59Arg)
n.366T>G
n.353T>G
20g.46725203_46725204delinsTGCA2366796080SLC2A10c.167_168delinsTG (p.Leu56=)
n.319_320delinsTG
c.230_231delinsTG (p.Leu77=)
c.176_177delinsTG (p.Leu59=)
n.366_367delinsTG
n.353_354delinsTG
20g.46725204G>ACA510847435SLC2A10c.168G>A (p.Leu56=)
n.320G>A
c.231G>A (p.Leu77=)
c.177G>A (p.Leu59=)
n.367G>A
n.354G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.46725204G>CCA510847437SLC2A10c.168G>C (p.Leu56=)
n.320G>C
c.231G>C (p.Leu77=)
c.177G>C (p.Leu59=)
n.367G>C
n.354G>C
20g.46725204G=CA2366796081SLC2A10c.168G= (p.Leu56=)
n.320G=
c.231G= (p.Leu77=)
c.177G= (p.Leu59=)
n.367G=
n.354G=
20g.46725204G>TCA510847436SLC2A10c.168G>T (p.Leu56=)
n.320G>T
c.231G>T (p.Leu77=)
c.177G>T (p.Leu59=)
n.367G>T
n.354G>T
dbSNP
20g.46725208dupCA2816531380SLC2A10c.172dup (p.Ala58GlyfsTer13)
n.324dup
c.235dup (p.Ala79GlyfsTer13)
c.181dup (p.Ala61GlyfsTer13)
n.371dup
n.358dup
20g.46725208delCA9891923SLC2A10c.172del (p.Ala58LeufsTer?)
n.324del
c.235del (p.Ala79LeufsTer?)
c.181del (p.Ala61LeufsTer?)
n.371del
n.358del
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.46725205G>ACA409266483SLC2A10c.169G>A (p.Gly57Arg)
n.321G>A
c.232G>A (p.Gly78Arg)
c.178G>A (p.Gly60Arg)
n.368G>A
n.355G>A
20g.46725205G>CCA409266484SLC2A10c.169G>C (p.Gly57Arg)
n.321G>C
c.232G>C (p.Gly78Arg)
c.178G>C (p.Gly60Arg)
n.368G>C
n.355G>C
20g.46725205G=CA2366796082SLC2A10c.169G= (p.Gly57=)
n.321G=
c.232G= (p.Gly78=)
c.178G= (p.Gly60=)
n.368G=
n.355G=
20g.46725205G>TCA409266485SLC2A10c.169G>T (p.Gly57Trp)
n.321G>T
c.232G>T (p.Gly78Trp)
c.178G>T (p.Gly60Trp)
n.368G>T
n.355G>T
dbSNP gnomAD v3 gnomAD v4
20g.46725206G>ACA409266486SLC2A10c.170G>A (p.Gly57Glu)
n.322G>A
c.233G>A (p.Gly78Glu)
c.179G>A (p.Gly60Glu)
n.369G>A
n.356G>A
gnomAD v4
20g.46725206G>CCA409266487SLC2A10c.170G>C (p.Gly57Ala)
n.322G>C
c.233G>C (p.Gly78Ala)
c.179G>C (p.Gly60Ala)
n.369G>C
n.356G>C
20g.46725206G=CA2366796083SLC2A10c.170G= (p.Gly57=)
n.322G=
c.233G= (p.Gly78=)
c.179G= (p.Gly60=)
n.369G=
n.356G=
20g.46725206G>TCA9891924SLC2A10c.170G>T (p.Gly57Val)
n.322G>T
c.233G>T (p.Gly78Val)
c.179G>T (p.Gly60Val)
n.369G>T
n.356G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725207G>ACA510847438SLC2A10c.171G>A (p.Gly57=)
n.323G>A
c.234G>A (p.Gly78=)
c.180G>A (p.Gly60=)
n.370G>A
n.357G>A
gnomAD v4
20g.46725207G>CCA510847439SLC2A10c.171G>C (p.Gly57=)
n.323G>C
c.234G>C (p.Gly78=)
c.180G>C (p.Gly60=)
n.370G>C
n.357G>C
20g.46725207G>TCA510847440SLC2A10c.171G>T (p.Gly57=)
n.323G>T
c.234G>T (p.Gly78=)
c.180G>T (p.Gly60=)
n.370G>T
n.357G>T
20g.46725208G>ACA409266488SLC2A10c.172G>A (p.Ala58Thr)
n.324G>A
c.235G>A (p.Ala79Thr)
c.181G>A (p.Ala61Thr)
n.371G>A
n.358G>A
dbSNP COSMIC
20g.46725208G>CCA409266489SLC2A10c.172G>C (p.Ala58Pro)
n.324G>C
c.235G>C (p.Ala79Pro)
c.181G>C (p.Ala61Pro)
n.371G>C
n.358G>C
20g.46725208G=CA2366796084SLC2A10c.172G= (p.Ala58=)
n.324G=
c.235G= (p.Ala79=)
c.181G= (p.Ala61=)
n.371G=
n.358G=
20g.46725208G>TCA409266490SLC2A10c.172G>T (p.Ala58Ser)
n.324G>T
c.235G>T (p.Ala79Ser)
c.181G>T (p.Ala61Ser)
n.371G>T
n.358G>T
dbSNP gnomAD v3 gnomAD v4
20g.46725209C>ACA409266491SLC2A10c.173C>A (p.Ala58Asp)
n.325C>A
c.236C>A (p.Ala79Asp)
c.182C>A (p.Ala61Asp)
n.372C>A
n.359C>A
20g.46725209C=CA2366796085SLC2A10c.173C= (p.Ala58=)
n.325C=
c.236C= (p.Ala79=)
c.182C= (p.Ala61=)
n.372C=
n.359C=
20g.46725209C>GCA409266492SLC2A10c.173C>G (p.Ala58Gly)
n.325C>G
c.236C>G (p.Ala79Gly)
c.182C>G (p.Ala61Gly)
n.372C>G
n.359C>G
20g.46725209C>TCA315755244SLC2A10c.173C>T (p.Ala58Val)
n.325C>T
c.236C>T (p.Ala79Val)
c.182C>T (p.Ala61Val)
n.372C>T
n.359C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.46725210T>ACA510847441SLC2A10c.174T>A (p.Ala58=)
n.326T>A
c.237T>A (p.Ala79=)
c.183T>A (p.Ala61=)
n.373T>A
n.360T>A
20g.46725210T>CCA510847442SLC2A10c.174T>C (p.Ala58=)
n.326T>C
c.237T>C (p.Ala79=)
c.183T>C (p.Ala61=)
n.373T>C
n.360T>C
20g.46725210T>GCA510847443SLC2A10c.174T>G (p.Ala58=)
n.326T>G
c.237T>G (p.Ala79=)
c.183T>G (p.Ala61=)
n.373T>G
n.360T>G
20g.46725211C>ACA409266493SLC2A10c.175C>A (p.Leu59Ile)
n.327C>A
c.238C>A (p.Leu80Ile)
c.184C>A (p.Leu62Ile)
n.374C>A
n.361C>A
20g.46725211C>GCA409266494SLC2A10c.175C>G (p.Leu59Val)
n.327C>G
c.238C>G (p.Leu80Val)
c.184C>G (p.Leu62Val)
n.374C>G
n.361C>G
20g.46725211C>TCA409266495SLC2A10c.175C>T (p.Leu59Phe)
n.327C>T
c.238C>T (p.Leu80Phe)
c.184C>T (p.Leu62Phe)
n.374C>T
n.361C>T
20g.46725212T>ACA409266496SLC2A10c.176T>A (p.Leu59His)
n.328T>A
c.239T>A (p.Leu80His)
c.185T>A (p.Leu62His)
n.375T>A
n.362T>A
20g.46725212T>CCA409266497SLC2A10c.176T>C (p.Leu59Pro)
n.328T>C
c.239T>C (p.Leu80Pro)
c.185T>C (p.Leu62Pro)
n.375T>C
n.362T>C
20g.46725212T>GCA409266498SLC2A10c.176T>G (p.Leu59Arg)
n.328T>G
c.239T>G (p.Leu80Arg)
c.185T>G (p.Leu62Arg)
n.375T>G
n.362T>G
20g.46725213C>ACA510847444SLC2A10c.177C>A (p.Leu59=)
n.329C>A
c.240C>A (p.Leu80=)
c.186C>A (p.Leu62=)
n.376C>A
n.363C>A
20g.46725213C=CA2366796086SLC2A10c.177C= (p.Leu59=)
n.329C=
c.240C= (p.Leu80=)
c.186C= (p.Leu62=)
n.376C=
n.363C=
20g.46725213C>GCA510847445SLC2A10c.177C>G (p.Leu59=)
n.329C>G
c.240C>G (p.Leu80=)
c.186C>G (p.Leu62=)
n.376C>G
n.363C>G
20g.46725213C>TCA9891925SLC2A10c.177C>T (p.Leu59=)
n.329C>T
c.240C>T (p.Leu80=)
c.186C>T (p.Leu62=)
n.376C>T
n.363C>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725214C>ACA409266499SLC2A10c.178C>A (p.Leu60Ile)
n.330C>A
c.241C>A (p.Leu81Ile)
c.187C>A (p.Leu63Ile)
n.377C>A
n.364C>A
20g.46725214C=CA2366796087SLC2A10c.178C= (p.Leu60=)
n.330C=
c.241C= (p.Leu81=)
c.187C= (p.Leu63=)
n.377C=
n.364C=
20g.46725214C>GCA409266501SLC2A10c.178C>G (p.Leu60Val)
n.330C>G
c.241C>G (p.Leu81Val)
c.187C>G (p.Leu63Val)
n.377C>G
n.364C>G
dbSNP gnomAD v3 gnomAD v4
20g.46725214C>TCA409266500SLC2A10c.178C>T (p.Leu60Phe)
n.330C>T
c.241C>T (p.Leu81Phe)
c.187C>T (p.Leu63Phe)
n.377C>T
n.364C>T
20g.46725215T>ACA409266502SLC2A10c.179T>A (p.Leu60His)
n.331T>A
c.242T>A (p.Leu81His)
c.188T>A (p.Leu63His)
n.378T>A
n.365T>A
20g.46725215T>CCA409266503SLC2A10c.179T>C (p.Leu60Pro)
n.331T>C
c.242T>C (p.Leu81Pro)
c.188T>C (p.Leu63Pro)
n.378T>C
n.365T>C
20g.46725215T>GCA409266504SLC2A10c.179T>G (p.Leu60Arg)
n.331T>G
c.242T>G (p.Leu81Arg)
c.188T>G (p.Leu63Arg)
n.378T>G
n.365T>G
20g.46725216C>ACA510847446SLC2A10c.180C>A (p.Leu60=)
n.332C>A
c.243C>A (p.Leu81=)
c.189C>A (p.Leu63=)
n.379C>A
n.366C>A
20g.46725216C=CA2366796088SLC2A10c.180C= (p.Leu60=)
n.332C=
c.243C= (p.Leu81=)
c.189C= (p.Leu63=)
n.379C=
n.366C=
20g.46725216C>GCA510847447SLC2A10c.180C>G (p.Leu60=)
n.332C>G
c.243C>G (p.Leu81=)
c.189C>G (p.Leu63=)
n.379C>G
n.366C>G
dbSNP
20g.46725216C>TCA9891926SLC2A10c.180C>T (p.Leu60=)
n.332C>T
c.243C>T (p.Leu81=)
c.189C>T (p.Leu63=)
n.379C>T
n.366C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46725217G>ACA9891927SLC2A10c.181G>A (p.Ala61Thr)
n.333G>A
c.244G>A (p.Ala82Thr)
c.190G>A (p.Ala64Thr)
n.380G>A
n.367G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.46725217G>CCA409266506SLC2A10c.181G>C (p.Ala61Pro)
n.333G>C
c.244G>C (p.Ala82Pro)
c.190G>C (p.Ala64Pro)
n.380G>C
n.367G>C
20g.46725217G=CA2366796089SLC2A10c.181G= (p.Ala61=)
n.333G=
c.244G= (p.Ala82=)
c.190G= (p.Ala64=)
n.380G=
n.367G=
20g.46725217G>TCA409266505SLC2A10c.181G>T (p.Ala61Ser)
n.333G>T
c.244G>T (p.Ala82Ser)
c.190G>T (p.Ala64Ser)
n.380G>T
n.367G>T
20g.46725218C>ACA409266507SLC2A10c.182C>A (p.Ala61Asp)
n.334C>A
c.245C>A (p.Ala82Asp)
c.191C>A (p.Ala64Asp)
n.381C>A
n.368C>A
20g.46725218C=CA2366796090SLC2A10c.182C= (p.Ala61=)
n.334C=
c.245C= (p.Ala82=)
c.191C= (p.Ala64=)
n.381C=
n.368C=
20g.46725218C>GCA409266508SLC2A10c.182C>G (p.Ala61Gly)
n.334C>G
c.245C>G (p.Ala82Gly)
c.191C>G (p.Ala64Gly)
n.381C>G
n.368C>G
gnomAD v4
20g.46725218C>TCA409266509SLC2A10c.182C>T (p.Ala61Val)
n.334C>T
c.245C>T (p.Ala82Val)
c.191C>T (p.Ala64Val)
n.381C>T
n.368C>T
dbSNP gnomAD v4
20g.46725219C>ACA510847448SLC2A10c.183C>A (p.Ala61=)
n.335C>A
c.246C>A (p.Ala82=)
c.192C>A (p.Ala64=)
n.382C>A
n.369C>A
20g.46725219C=CA2366796091SLC2A10c.183C= (p.Ala61=)
n.335C=
c.246C= (p.Ala82=)
c.192C= (p.Ala64=)
n.382C=
n.369C=
20g.46725219C>GCA510847449SLC2A10c.183C>G (p.Ala61=)
n.335C>G
c.246C>G (p.Ala82=)
c.192C>G (p.Ala64=)
n.382C>G
n.369C>G
ClinVar dbSNP gnomAD v4
20g.46725219C>TCA9891928SLC2A10c.183C>T (p.Ala61=)
n.335C>T
c.246C>T (p.Ala82=)
c.192C>T (p.Ala64=)
n.382C>T
n.369C>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46725220T>ACA409266510SLC2A10c.184T>A (p.Ser62Thr)
n.336T>A
c.247T>A (p.Ser83Thr)
c.193T>A (p.Ser65Thr)
n.383T>A
n.370T>A
20g.46725220T>CCA409266511SLC2A10c.184T>C (p.Ser62Pro)
n.336T>C
c.247T>C (p.Ser83Pro)
c.193T>C (p.Ser65Pro)
n.383T>C
n.370T>C
20g.46725220T>GCA409266512SLC2A10c.184T>G (p.Ser62Ala)
n.336T>G
c.247T>G (p.Ser83Ala)
c.193T>G (p.Ser65Ala)
n.383T>G
n.370T>G
20g.46725221C>ACA409266513SLC2A10c.185C>A (p.Ser62Tyr)
n.337C>A
c.248C>A (p.Ser83Tyr)
c.194C>A (p.Ser65Tyr)
n.384C>A
n.371C>A
20g.46725221C>GCA409266514SLC2A10c.185C>G (p.Ser62Cys)
n.337C>G
c.248C>G (p.Ser83Cys)
c.194C>G (p.Ser65Cys)
n.384C>G
n.371C>G
20g.46725221C>TCA409266515SLC2A10c.185C>T (p.Ser62Phe)
n.337C>T
c.248C>T (p.Ser83Phe)
c.194C>T (p.Ser65Phe)
n.384C>T
n.371C>T
COSMIC
20g.46725223delCA2577417271SLC2A10c.187del (p.Leu63TrpfsTer28)
n.339del
c.250del (p.Leu84TrpfsTer28)
c.196del (p.Leu66TrpfsTer28)
n.386del
n.373del
gnomAD v4
20g.46725222C>ACA510847451SLC2A10c.186C>A (p.Ser62=)
n.338C>A
c.249C>A (p.Ser83=)
c.195C>A (p.Ser65=)
n.385C>A
n.372C>A
20g.46725222C=CA2366796092SLC2A10c.186C= (p.Ser62=)
n.338C=
c.249C= (p.Ser83=)
c.195C= (p.Ser65=)
n.385C=
n.372C=
20g.46725222C>GCA510847450SLC2A10c.186C>G (p.Ser62=)
n.338C>G
c.249C>G (p.Ser83=)
c.195C>G (p.Ser65=)
n.385C>G
n.372C>G
20g.46725222C>TCA9891929SLC2A10c.186C>T (p.Ser62=)
n.338C>T
c.249C>T (p.Ser83=)
c.195C>T (p.Ser65=)
n.385C>T
n.372C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.46725223C>ACA409266517SLC2A10c.187C>A (p.Leu63Met)
n.339C>A
c.250C>A (p.Leu84Met)
c.196C>A (p.Leu66Met)
n.386C>A
n.373C>A
dbSNP
20g.46725223C=CA2366796093SLC2A10c.187C= (p.Leu63=)
n.339C=
c.250C= (p.Leu84=)
c.196C= (p.Leu66=)
n.386C=
n.373C=
20g.46725223C>GCA409266516SLC2A10c.187C>G (p.Leu63Val)
n.339C>G
c.250C>G (p.Leu84Val)
c.196C>G (p.Leu66Val)
n.386C>G
n.373C>G
20g.46725223C>TCA510847452SLC2A10c.187C>T (p.Leu63=)
n.339C>T
c.250C>T (p.Leu84=)
c.196C>T (p.Leu66=)
n.386C>T
n.373C>T
dbSNP gnomAD v4
20g.46725224T>ACA409266518SLC2A10c.188T>A (p.Leu63Gln)
n.340T>A
c.251T>A (p.Leu84Gln)
c.197T>A (p.Leu66Gln)
n.387T>A
n.374T>A
20g.46725224T>CCA409266520SLC2A10c.188T>C (p.Leu63Pro)
n.340T>C
c.251T>C (p.Leu84Pro)
c.197T>C (p.Leu66Pro)
n.387T>C
n.374T>C
20g.46725224T>GCA409266519SLC2A10c.188T>G (p.Leu63Arg)
n.340T>G
c.251T>G (p.Leu84Arg)
c.197T>G (p.Leu66Arg)
n.387T>G
n.374T>G
20g.46725225G>ACA510847453SLC2A10c.189G>A (p.Leu63=)
n.341G>A
c.252G>A (p.Leu84=)
c.198G>A (p.Leu66=)
n.388G>A
n.375G>A
20g.46725225G>CCA315755270SLC2A10c.189G>C (p.Leu63=)
n.341G>C
c.252G>C (p.Leu84=)
c.198G>C (p.Leu66=)
n.388G>C
n.375G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46725225G=CA2366796094SLC2A10c.189G= (p.Leu63=)
n.341G=
c.252G= (p.Leu84=)
c.198G= (p.Leu66=)
n.388G=
n.375G=
20g.46725225G>TCA510847454SLC2A10c.189G>T (p.Leu63=)
n.341G>T
c.252G>T (p.Leu84=)
c.198G>T (p.Leu66=)
n.388G>T
n.375G>T
20g.46725226G>ACA409266521SLC2A10c.190G>A (p.Val64Ile)
n.342G>A
c.253G>A (p.Val85Ile)
c.199G>A (p.Val67Ile)
n.389G>A
n.376G>A
20g.46725226G>CCA409266522SLC2A10c.190G>C (p.Val64Leu)
n.342G>C
c.253G>C (p.Val85Leu)
c.199G>C (p.Val67Leu)
n.389G>C
n.376G>C
gnomAD v4
20g.46725226G>TCA409266523SLC2A10c.190G>T (p.Val64Phe)
n.342G>T
c.253G>T (p.Val85Phe)
c.199G>T (p.Val67Phe)
n.389G>T
n.376G>T
COSMIC

Number of alleles fetched