Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.765341_765382delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCA2345350107SLC52A3c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA (p.Ser131=)
n.444_485delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA
20g.765343_765383delCA9724784SLC52A3c.393_433del (p.Ser131ArgfsTer27)
n.444_484del
dbSNP ExAC
20g.765353_765355delCA2345350112SLC52A3c.423_425del (p.Phe142del)
n.474_476del
dbSNP
20g.765354A=CA2345350113SLC52A3c.421T= (p.Phe141=)
n.472T=
20g.765354A>CCA407963871SLC52A3c.421T>G (p.Phe141Val)
n.472T>G
20g.765354A>GCA407963872SLC52A3c.421T>C (p.Phe141Leu)
n.472T>C
20g.765354A>TCA9724785SLC52A3c.421T>A (p.Phe141Ile)
n.472T>A
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765355G>ACA509542765SLC52A3c.420C>T (p.Thr140=)
n.471C>T
gnomAD v4
20g.765355G>CCA509542766SLC52A3c.420C>G (p.Thr140=)
n.471C>G
gnomAD v4
20g.765355G>TCA509542768SLC52A3c.420C>A (p.Thr140=)
n.471C>A
20g.765356G>ACA407963873SLC52A3c.419C>T (p.Thr140Ile)
n.470C>T
gnomAD v4
20g.765356G>CCA407963874SLC52A3c.419C>G (p.Thr140Ser)
n.470C>G
20g.765356G>TCA407963875SLC52A3c.419C>A (p.Thr140Asn)
n.470C>A
20g.765357T>ACA407963876SLC52A3c.418A>T (p.Thr140Ser)
n.469A>T
20g.765357T>CCA407963877SLC52A3c.418A>G (p.Thr140Ala)
n.469A>G
20g.765357T>GCA407963878SLC52A3c.418A>C (p.Thr140Pro)
n.469A>C
20g.765358G>ACA310679111SLC52A3c.417C>T (p.Thr139=)
n.468C>T
dbSNP gnomAD v4
20g.765358G>CCA509542771SLC52A3c.417C>G (p.Thr139=)
n.468C>G
20g.765358G=CA2345350114SLC52A3c.417C= (p.Thr139=)
n.468C=
20g.765358G>TCA509542769SLC52A3c.417C>A (p.Thr139=)
n.468C>A
20g.765359G>ACA407963879SLC52A3c.416C>T (p.Thr139Ile)
n.467C>T
dbSNP gnomAD v2
20g.765359G>CCA407963880SLC52A3c.416C>G (p.Thr139Ser)
n.467C>G
20g.765359G=CA2345350115SLC52A3c.416C= (p.Thr139=)
n.467C=
20g.765359G>TCA407963881SLC52A3c.416C>A (p.Thr139Asn)
n.467C>A
20g.765360T>ACA407963884SLC52A3c.415A>T (p.Thr139Ser)
n.466A>T
20g.765360T>CCA407963882SLC52A3c.415A>G (p.Thr139Ala)
n.466A>G
gnomAD v4
20g.765360T>GCA407963883SLC52A3c.415A>C (p.Thr139Pro)
n.466A>C
20g.765361G>ACA509542773SLC52A3c.414C>T (p.Leu138=)
n.465C>T
dbSNP gnomAD v4
20g.765361G>CCA310679117SLC52A3c.414C>G (p.Leu138=)
n.465C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.765361G=CA2345350116SLC52A3c.414C= (p.Leu138=)
n.465C=
20g.765361G>TCA310679134SLC52A3c.414C>A (p.Leu138=)
n.465C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.765362A>CCA407963885SLC52A3c.413T>G (p.Leu138Arg)
n.464T>G
20g.765362A>GCA407963886SLC52A3c.413T>C (p.Leu138Pro)
n.464T>C
20g.765362A>TCA407963887SLC52A3c.413T>A (p.Leu138His)
n.464T>A
20g.765363G>ACA407963888SLC52A3c.412C>T (p.Leu138Phe)
n.463C>T
gnomAD v4
20g.765363G>CCA407963889SLC52A3c.412C>G (p.Leu138Val)
n.463C>G
20g.765363G>TCA407963890SLC52A3c.412C>A (p.Leu138Ile)
n.463C>A
20g.765364G>ACA9724786SLC52A3c.411C>T (p.Tyr137=)
n.462C>T
ClinVar dbSNP ExAC gnomAD v2
20g.765364G>CCA407963891SLC52A3c.411C>G (p.Tyr137Ter)
n.462C>G
20g.765364G=CA2345350117SLC52A3c.411C= (p.Tyr137=)
n.462C=
20g.765364G>TCA407963892SLC52A3c.411C>A (p.Tyr137Ter)
n.462C>A
20g.765365T>ACA407963895SLC52A3c.410A>T (p.Tyr137Phe)
n.461A>T
20g.765365T>CCA407963894SLC52A3c.410A>G (p.Tyr137Cys)
n.461A>G
20g.765365T>GCA407963893SLC52A3c.410A>C (p.Tyr137Ser)
n.461A>C
20g.765366A>CCA407963896SLC52A3c.409T>G (p.Tyr137Asp)
n.460T>G
20g.765366A>GCA407963897SLC52A3c.409T>C (p.Tyr137His)
n.460T>C
gnomAD v4
20g.765366A>TCA407963898SLC52A3c.409T>A (p.Tyr137Asn)
n.460T>A
20g.765367G>ACA9724787SLC52A3c.408C>T (p.Tyr136=)
n.459C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765367G>CCA310679163SLC52A3c.408C>G (p.Tyr136Ter)
n.459C>G
ClinVar dbSNP
20g.765367G=CA2345350118SLC52A3c.408C= (p.Tyr136=)
n.459C=
20g.765367G>TCA407963899SLC52A3c.408C>A (p.Tyr136Ter)
n.459C>A
20g.765368T>ACA407963900SLC52A3c.407A>T (p.Tyr136Phe)
n.458A>T
20g.765368T>CCA407963901SLC52A3c.407A>G (p.Tyr136Cys)
n.458A>G
20g.765368T>GCA407963902SLC52A3c.407A>C (p.Tyr136Ser)
n.458A>C
20g.765369A>CCA407963903SLC52A3c.406T>G (p.Tyr136Asp)
n.457T>G
20g.765369A>GCA407963904SLC52A3c.406T>C (p.Tyr136His)
n.457T>C
20g.765369A>TCA407963905SLC52A3c.406T>A (p.Tyr136Asn)
n.457T>A
20g.765370G>ACA509542778SLC52A3c.405C>T (p.Thr135=)
n.456C>T
20g.765370G>CCA509542779SLC52A3c.405C>G (p.Thr135=)
n.456C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.765370G=CA2345350119SLC52A3c.405C= (p.Thr135=)
n.456C=
20g.765370G>TCA509542780SLC52A3c.405C>A (p.Thr135=)
n.456C>A
20g.765371G>ACA407963908SLC52A3c.404C>T (p.Thr135Ile)
n.455C>T
gnomAD v4
20g.765371G>CCA407963906SLC52A3c.404C>G (p.Thr135Ser)
n.455C>G
20g.765371G>TCA407963907SLC52A3c.404C>A (p.Thr135Asn)
n.455C>A
20g.765372T>ACA407963909SLC52A3c.403A>T (p.Thr135Ser)
n.454A>T
20g.765372T>CCA346999SLC52A3c.403A>G (p.Thr135Ala)
n.454A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765372T>GCA407963910SLC52A3c.403A>C (p.Thr135Pro)
n.454A>C
20g.765372T=CA2345350120SLC52A3c.403A= (p.Thr135=)
n.454A=
20g.765373G>ACA509542786SLC52A3c.402C>T (p.Pro134=)
n.453C>T
20g.765373G>CCA509542787SLC52A3c.402C>G (p.Pro134=)
n.453C>G
20g.765373G>TCA509542785SLC52A3c.402C>A (p.Pro134=)
n.453C>A
20g.765374G>ACA407963911SLC52A3c.401C>T (p.Pro134Leu)
n.452C>T
20g.765374G>CCA407963912SLC52A3c.401C>G (p.Pro134Arg)
n.452C>G
dbSNP
20g.765374G=CA2345350121SLC52A3c.401C= (p.Pro134=)
n.452C=
20g.765374G>TCA407963913SLC52A3c.401C>A (p.Pro134His)
n.452C>A
20g.765375G>ACA407963914SLC52A3c.400C>T (p.Pro134Ser)
n.451C>T
20g.765375G>CCA407963915SLC52A3c.400C>G (p.Pro134Ala)
n.451C>G
20g.765375G>TCA407963916SLC52A3c.400C>A (p.Pro134Thr)
n.451C>A
20g.765376C>ACA509542793SLC52A3c.399G>T (p.Leu133=)
n.450G>T
20g.765376C>GCA509542791SLC52A3c.399G>C (p.Leu133=)
n.450G>C
20g.765376C>TCA509542792SLC52A3c.399G>A (p.Leu133=)
n.450G>A
20g.765377A>CCA407963917SLC52A3c.398T>G (p.Leu133Arg)
n.449T>G
20g.765377A>GCA407963918SLC52A3c.398T>C (p.Leu133Pro)
n.449T>C
20g.765377A>TCA407963919SLC52A3c.398T>A (p.Leu133Gln)
n.449T>A
20g.765378G>ACA509542797SLC52A3c.397C>T (p.Leu133=)
n.448C>T
20g.765378G>CCA407963921SLC52A3c.397C>G (p.Leu133Val)
n.448C>G
20g.765378G>TCA407963920SLC52A3c.397C>A (p.Leu133Met)
n.448C>A
20g.765379C>ACA509542799SLC52A3c.396G>T (p.Arg132=)
n.447G>T
20g.765379C>GCA509542800SLC52A3c.396G>C (p.Arg132=)
n.447G>C
20g.765379C>TCA509542798SLC52A3c.396G>A (p.Arg132=)
n.447G>A
20g.765380C>ACA407963922SLC52A3c.395G>T (p.Arg132Leu)
n.446G>T
dbSNP gnomAD v2 gnomAD v4
20g.765380C=CA2345350122SLC52A3c.395G= (p.Arg132=)
n.446G=
20g.765380C>GCA407963923SLC52A3c.395G>C (p.Arg132Pro)
n.446G>C
20g.765380C>TCA9724788SLC52A3c.395G>A (p.Arg132Gln)
n.446G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765381G>ACA339794SLC52A3c.394C>T (p.Arg132Trp)
n.445C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765381G>CCA407963924SLC52A3c.394C>G (p.Arg132Gly)
n.445C>G
20g.765381G=CA2345350123SLC52A3c.394C= (p.Arg132=)
n.445C=
20g.765381G>TCA509542805SLC52A3c.394C>A (p.Arg132=)
n.445C>A
ClinVar dbSNP
20g.765382delCA2651547885SLC52A3c.394del (p.Arg132GlyfsTer?)
n.445del
gnomAD v4
20g.765382G>ACA509542808SLC52A3c.393C>T (p.Ser131=)
n.444C>T
20g.765382G>CCA407963925SLC52A3c.393C>G (p.Ser131Arg)
n.444C>G
20g.765382G>TCA407963926SLC52A3c.393C>A (p.Ser131Arg)
n.444C>A
COSMIC
20g.765383C>ACA407963927SLC52A3c.392G>T (p.Ser131Ile)
n.443G>T
20g.765383C>GCA407963928SLC52A3c.392G>C (p.Ser131Thr)
n.443G>C
20g.765383C>TCA407963929SLC52A3c.392G>A (p.Ser131Asn)
n.443G>A
gnomAD v4
20g.765384T>ACA407963930SLC52A3c.391A>T (p.Ser131Cys)
n.442A>T
20g.765384T>CCA407963931SLC52A3c.391A>G (p.Ser131Gly)
n.442A>G
20g.765384T>GCA407963932SLC52A3c.391A>C (p.Ser131Arg)
n.442A>C
20g.765385C>ACA407963933SLC52A3c.390G>T (p.Met130Ile)
n.441G>T
20g.765385C=CA2345350124SLC52A3c.390G= (p.Met130=)
n.441G=
20g.765385C>GCA407963934SLC52A3c.390G>C (p.Met130Ile)
n.441G>C
20g.765385C>TCA407963935SLC52A3c.390G>A (p.Met130Ile)
n.441G>A
dbSNP gnomAD v3 gnomAD v4
20g.765386A>CCA407963936SLC52A3c.389T>G (p.Met130Arg)
n.440T>G
20g.765386A>GCA407963938SLC52A3c.389T>C (p.Met130Thr)
n.440T>C
20g.765386A>TCA407963937SLC52A3c.389T>A (p.Met130Lys)
n.440T>A
20g.765387T>ACA407963939SLC52A3c.388A>T (p.Met130Leu)
n.439A>T
20g.765387T>CCA407963940SLC52A3c.388A>G (p.Met130Val)
n.439A>G
20g.765387T>GCA407963941SLC52A3c.388A>C (p.Met130Leu)
n.439A>C
20g.765388G>ACA509542813SLC52A3c.387C>T (p.Phe129=)
n.438C>T
COSMIC COSMIC
20g.765388G>CCA407963942SLC52A3c.387C>G (p.Phe129Leu)
n.438C>G
20g.765388G>TCA407963943SLC52A3c.387C>A (p.Phe129Leu)
n.438C>A
20g.765389A>CCA407963944SLC52A3c.386T>G (p.Phe129Cys)
n.437T>G
20g.765389A>GCA407963945SLC52A3c.386T>C (p.Phe129Ser)
n.437T>C
20g.765389A>TCA407963946SLC52A3c.386T>A (p.Phe129Tyr)
n.437T>A
20g.765390A>CCA407963947SLC52A3c.385T>G (p.Phe129Val)
n.436T>G
20g.765390A>GCA407963948SLC52A3c.385T>C (p.Phe129Leu)
n.436T>C
20g.765390A>TCA407963949SLC52A3c.385T>A (p.Phe129Ile)
n.436T>A
20g.765391C>ACA509542816SLC52A3c.384G>T (p.Pro128=)
n.435G>T
gnomAD v4
20g.765391C=CA2345350125SLC52A3c.384G= (p.Pro128=)
n.435G=
20g.765391C>GCA509542817SLC52A3c.384G>C (p.Pro128=)
n.435G>C
20g.765391C>TCA9724789SLC52A3c.384G>A (p.Pro128=)
n.435G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765392G>ACA310679172SLC52A3c.383C>T (p.Pro128Leu)
n.434C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.765392G>CCA407963950SLC52A3c.383C>G (p.Pro128Arg)
n.434C>G
20g.765392G=CA2345350126SLC52A3c.383C= (p.Pro128=)
n.434C=
20g.765392G>TCA407963951SLC52A3c.383C>A (p.Pro128Gln)
n.434C>A
20g.765393G>ACA407963952SLC52A3c.382C>T (p.Pro128Ser)
n.433C>T
20g.765393G>CCA407963953SLC52A3c.382C>G (p.Pro128Ala)
n.433C>G
20g.765393G>TCA407963954SLC52A3c.382C>A (p.Pro128Thr)
n.433C>A
gnomAD v4
20g.765394C>ACA509542819SLC52A3c.381G>T (p.Leu127=)
n.432G>T
20g.765394C>GCA509542820SLC52A3c.381G>C (p.Leu127=)
n.432G>C
20g.765394C>TCA509542822SLC52A3c.381G>A (p.Leu127=)
n.432G>A
20g.765395A>CCA407963955SLC52A3c.380T>G (p.Leu127Arg)
n.431T>G
20g.765395A>GCA407963956SLC52A3c.380T>C (p.Leu127Pro)
n.431T>C
20g.765395A>TCA407963957SLC52A3c.380T>A (p.Leu127Gln)
n.431T>A
20g.765396G>ACA509542823SLC52A3c.379C>T (p.Leu127=)
n.430C>T
20g.765396G>CCA407963958SLC52A3c.379C>G (p.Leu127Val)
n.430C>G
20g.765396G>TCA407963959SLC52A3c.379C>A (p.Leu127Met)
n.430C>A
20g.765397G>ACA509542824SLC52A3c.378C>T (p.Phe126=)
n.429C>T
ClinVar dbSNP gnomAD v4
20g.765397G>CCA407963960SLC52A3c.378C>G (p.Phe126Leu)
n.429C>G
20g.765397G=CA2345350127SLC52A3c.378C= (p.Phe126=)
n.429C=
20g.765397G>TCA407963961SLC52A3c.378C>A (p.Phe126Leu)
n.429C>A
20g.765398A>CCA407963964SLC52A3c.377T>G (p.Phe126Cys)
n.428T>G
20g.765398A>GCA407963963SLC52A3c.377T>C (p.Phe126Ser)
n.428T>C
20g.765398A>TCA407963962SLC52A3c.377T>A (p.Phe126Tyr)
n.428T>A
20g.765399A=CA2345350128SLC52A3c.376T= (p.Phe126=)
n.427T=
20g.765399A>CCA407963965SLC52A3c.376T>G (p.Phe126Val)
n.427T>G
20g.765399A>GCA407963966SLC52A3c.376T>C (p.Phe126Leu)
n.427T>C
dbSNP gnomAD v2 gnomAD v4
20g.765399A>TCA407963967SLC52A3c.376T>A (p.Phe126Ile)
n.427T>A
20g.765400G>ACA509542828SLC52A3c.375C>T (p.Thr125=)
n.426C>T
dbSNP gnomAD v2 gnomAD v4
20g.765400G>CCA509542829SLC52A3c.375C>G (p.Thr125=)
n.426C>G
20g.765400G=CA2345350129SLC52A3c.375C= (p.Thr125=)
n.426C=
20g.765400G>TCA9724790SLC52A3c.375C>A (p.Thr125=)
n.426C>A
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765401G>ACA407963968SLC52A3c.374C>T (p.Thr125Ile)
n.425C>T
ClinVar
20g.765401G>CCA407963969SLC52A3c.374C>G (p.Thr125Ser)
n.425C>G
gnomAD v4
20g.765401G=CA2345350130SLC52A3c.374C= (p.Thr125=)
n.425C=
20g.765401G>TCA346997SLC52A3c.374C>A (p.Thr125Asn)
n.425C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765402T>ACA407963970SLC52A3c.373A>T (p.Thr125Ser)
n.424A>T
20g.765402T>CCA407963971SLC52A3c.373A>G (p.Thr125Ala)
n.424A>G
20g.765402T>GCA407963972SLC52A3c.373A>C (p.Thr125Pro)
n.424A>C
dbSNP
20g.765402T=CA2345350131SLC52A3c.373A= (p.Thr125=)
n.424A=
20g.765403C>ACA509542834SLC52A3c.372G>T (p.Val124=)
n.423G>T
20g.765403C>GCA509542835SLC52A3c.372G>C (p.Val124=)
n.423G>C
20g.765403C>TCA509542836SLC52A3c.372G>A (p.Val124=)
n.423G>A
gnomAD v4
20g.765404A>CCA407963973SLC52A3c.371T>G (p.Val124Gly)
n.422T>G
20g.765404A>GCA407963974SLC52A3c.371T>C (p.Val124Ala)
n.422T>C
20g.765404A>TCA407963975SLC52A3c.371T>A (p.Val124Glu)
n.422T>A
20g.765405C>ACA407963978SLC52A3c.370G>T (p.Val124Leu)
n.421G>T
20g.765405C>GCA407963977SLC52A3c.370G>C (p.Val124Leu)
n.421G>C
20g.765405C>TCA407963976SLC52A3c.370G>A (p.Val124Met)
n.421G>A
20g.765406T>ACA509542838SLC52A3c.369A>T (p.Ser123=)
n.420A>T
20g.765406T>CCA509542839SLC52A3c.369A>G (p.Ser123=)
n.420A>G
dbSNP
20g.765406T>GCA509542840SLC52A3c.369A>C (p.Ser123=)
n.420A>C
20g.765407G>ACA407963981SLC52A3c.368C>T (p.Ser123Leu)
n.419C>T
20g.765407G>CCA407963979SLC52A3c.368C>G (p.Ser123Ter)
n.419C>G
20g.765407G>TCA407963980SLC52A3c.368C>A (p.Ser123Ter)
n.419C>A
20g.765408A>CCA407963982SLC52A3c.367T>G (p.Ser123Ala)
n.418T>G
20g.765408A>GCA407963983SLC52A3c.367T>C (p.Ser123Pro)
n.418T>C
20g.765408A>TCA407963984SLC52A3c.367T>A (p.Ser123Thr)
n.418T>A
20g.765409A>CCA509542842SLC52A3c.366T>G (p.Ser122=)
n.417T>G
20g.765409A>GCA509542843SLC52A3c.366T>C (p.Ser122=)
n.417T>C
20g.765409A>TCA509542845SLC52A3c.366T>A (p.Ser122=)
n.417T>A
20g.765410G>ACA407963985SLC52A3c.365C>T (p.Ser122Phe)
n.416C>T
20g.765410G>CCA407963986SLC52A3c.365C>G (p.Ser122Cys)
n.416C>G
20g.765410G>TCA407963987SLC52A3c.365C>A (p.Ser122Tyr)
n.416C>A
20g.765411A>CCA407963988SLC52A3c.364T>G (p.Ser122Ala)
n.415T>G
20g.765411A>GCA407963990SLC52A3c.364T>C (p.Ser122Pro)
n.415T>C
gnomAD v4
20g.765411A>TCA407963989SLC52A3c.364T>A (p.Ser122Thr)
n.415T>A
20g.765412G>ACA509542848SLC52A3c.363C>T (p.Thr121=)
n.414C>T
20g.765412G>CCA9724791SLC52A3c.363C>G (p.Thr121=)
n.414C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765412G=CA2345350132SLC52A3c.363C= (p.Thr121=)
n.414C=
20g.765412G>TCA509542849SLC52A3c.363C>A (p.Thr121=)
n.414C>A
20g.765413G>ACA407963991SLC52A3c.362C>T (p.Thr121Ile)
n.413C>T
dbSNP gnomAD v4
20g.765413G>CCA407963992SLC52A3c.362C>G (p.Thr121Ser)
n.413C>G
20g.765413G=CA2345350133SLC52A3c.362C= (p.Thr121=)
n.413C=
20g.765413G>TCA407963993SLC52A3c.362C>A (p.Thr121Asn)
n.413C>A
gnomAD v4
20g.765414T>ACA407963996SLC52A3c.361A>T (p.Thr121Ser)
n.412A>T
20g.765414T>CCA407963994SLC52A3c.361A>G (p.Thr121Ala)
n.412A>G
20g.765414T>GCA407963995SLC52A3c.361A>C (p.Thr121Pro)
n.412A>C
dbSNP
20g.765414T=CA2345350134SLC52A3c.361A= (p.Thr121=)
n.412A=
20g.765415G>ACA509542853SLC52A3c.360C>T (p.Cys120=)
n.411C>T
gnomAD v4
20g.765415G>CCA407963997SLC52A3c.360C>G (p.Cys120Trp)
n.411C>G
20g.765415G>TCA407963998SLC52A3c.360C>A (p.Cys120Ter)
n.411C>A
20g.765415dupCA2651547886SLC52A3c.360dup (p.Thr121HisfsTer25)
n.411dup
gnomAD v4
20g.765416C>ACA407963999SLC52A3c.359G>T (p.Cys120Phe)
n.410G>T
20g.765416C>GCA407964000SLC52A3c.359G>C (p.Cys120Ser)
n.410G>C
20g.765416C>TCA407964001SLC52A3c.359G>A (p.Cys120Tyr)
n.410G>A
20g.765416_765417insCCTCA2651547887SLC52A3c.358_359insAGG (p.Cys120Ter)
n.409_410insAGG
gnomAD v4
20g.765417A=CA2345350135SLC52A3c.358T= (p.Cys120=)
n.409T=
20g.765417A>CCA407964002SLC52A3c.358T>G (p.Cys120Gly)
n.409T>G
dbSNP gnomAD v2 gnomAD v4
20g.765417A>GCA9724792SLC52A3c.358T>C (p.Cys120Arg)
n.409T>C
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765417A>TCA407964003SLC52A3c.358T>A (p.Cys120Ser)
n.409T>A
20g.765418G>ACA509542856SLC52A3c.357C>T (p.Asp119=)
n.408C>T
20g.765418G>CCA407964004SLC52A3c.357C>G (p.Asp119Glu)
n.408C>G
20g.765418G>TCA407964005SLC52A3c.357C>A (p.Asp119Glu)
n.408C>A
20g.765419T>ACA407964006SLC52A3c.356A>T (p.Asp119Val)
n.407A>T
20g.765419T>CCA407964007SLC52A3c.356A>G (p.Asp119Gly)
n.407A>G
20g.765419T>GCA407964008SLC52A3c.356A>C (p.Asp119Ala)
n.407A>C
20g.765420C>ACA407964009SLC52A3c.355G>T (p.Asp119Tyr)
n.406G>T
20g.765420C>GCA407964011SLC52A3c.355G>C (p.Asp119His)
n.406G>C
20g.765420C>TCA407964010SLC52A3c.355G>A (p.Asp119Asn)
n.406G>A
20g.765421C>ACA509542861SLC52A3c.354G>T (p.Val118=)
n.405G>T
20g.765421C>GCA509542862SLC52A3c.354G>C (p.Val118=)
n.405G>C
20g.765421C>TCA509542863SLC52A3c.354G>A (p.Val118=)
n.405G>A
20g.765422A>CCA407964012SLC52A3c.353T>G (p.Val118Gly)
n.404T>G
20g.765422A>GCA407964013SLC52A3c.353T>C (p.Val118Ala)
n.404T>C
20g.765422A>TCA407964014SLC52A3c.353T>A (p.Val118Glu)
n.404T>A
ClinVar
20g.765423C>ACA407964015SLC52A3c.352G>T (p.Val118Leu)
n.403G>T
20g.765423C=CA2345350136SLC52A3c.352G= (p.Val118=)
n.403G=
20g.765423C>GCA407964016SLC52A3c.352G>C (p.Val118Leu)
n.403G>C
20g.765423C>TCA407964017SLC52A3c.352G>A (p.Val118Met)
n.403G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.765424C>ACA509542870SLC52A3c.351G>T (p.Leu117=)
n.402G>T
20g.765424C>GCA509542873SLC52A3c.351G>C (p.Leu117=)
n.402G>C
20g.765424C>TCA509542872SLC52A3c.351G>A (p.Leu117=)
n.402G>A
20g.765425A=CA2345350137SLC52A3c.350T= (p.Leu117=)
n.401T=
20g.765425A>CCA407964020SLC52A3c.350T>G (p.Leu117Arg)
n.401T>G
20g.765425A>GCA407964018SLC52A3c.350T>C (p.Leu117Pro)
n.401T>C
dbSNP
20g.765425A>TCA407964019SLC52A3c.350T>A (p.Leu117Gln)
n.401T>A
20g.765426G>ACA509542876SLC52A3c.349C>T (p.Leu117=)
n.400C>T
gnomAD v4
20g.765426G>CCA407964021SLC52A3c.349C>G (p.Leu117Val)
n.400C>G
20g.765426G>TCA407964022SLC52A3c.349C>A (p.Leu117Met)
n.400C>A
20g.765427G>ACA509542879SLC52A3c.348C>T (p.Ala116=)
n.399C>T
20g.765427G>CCA509542881SLC52A3c.348C>G (p.Ala116=)
n.399C>G
20g.765427G>TCA509542885SLC52A3c.348C>A (p.Ala116=)
n.399C>A
20g.765428G>ACA407964023SLC52A3c.347C>T (p.Ala116Val)
n.398C>T
20g.765428G>CCA407964024SLC52A3c.347C>G (p.Ala116Gly)
n.398C>G
20g.765428G>TCA407964025SLC52A3c.347C>A (p.Ala116Asp)
n.398C>A
20g.765429C>ACA407964026SLC52A3c.346G>T (p.Ala116Ser)
n.397G>T
20g.765429C>GCA407964028SLC52A3c.346G>C (p.Ala116Pro)
n.397G>C
20g.765429C>TCA407964027SLC52A3c.346G>A (p.Ala116Thr)
n.397G>A
20g.765430C>ACA509542891SLC52A3c.345G>T (p.Leu115=)
n.396G>T
20g.765430C>GCA509542894SLC52A3c.345G>C (p.Leu115=)
n.396G>C
20g.765430C>TCA509542896SLC52A3c.345G>A (p.Leu115=)
n.396G>A
20g.765431A>CCA407964029SLC52A3c.344T>G (p.Leu115Arg)
n.395T>G
gnomAD v4
20g.765431A>GCA407964030SLC52A3c.344T>C (p.Leu115Pro)
n.395T>C
20g.765431A>TCA407964031SLC52A3c.344T>A (p.Leu115Gln)
n.395T>A
20g.765432G>ACA9724793SLC52A3c.343C>T (p.Leu115=)
n.394C>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765432G>CCA407964032SLC52A3c.343C>G (p.Leu115Val)
n.394C>G
20g.765432G=CA2345350138SLC52A3c.343C= (p.Leu115=)
n.394C=
20g.765432G>TCA407964033SLC52A3c.343C>A (p.Leu115Met)
n.394C>A
20g.765433G>ACA509542907SLC52A3c.342C>T (p.Phe114=)
n.393C>T
20g.765433G>CCA407964034SLC52A3c.342C>G (p.Phe114Leu)
n.393C>G
20g.765433G>TCA407964035SLC52A3c.342C>A (p.Phe114Leu)
n.393C>A
20g.765437_765439delCA2651547888SLC52A3c.340_342del (p.Phe114del)
n.391_393del
gnomAD v4
20g.765434A>CCA407964036SLC52A3c.341T>G (p.Phe114Cys)
n.392T>G
20g.765434A>GCA407964037SLC52A3c.341T>C (p.Phe114Ser)
n.392T>C
COSMIC COSMIC
20g.765434A>TCA407964038SLC52A3c.341T>A (p.Phe114Tyr)
n.392T>A
gnomAD v4
20g.765435A>CCA407964039SLC52A3c.340T>G (p.Phe114Val)
n.391T>G
20g.765435A>GCA407964041SLC52A3c.340T>C (p.Phe114Leu)
n.391T>C
20g.765435A>TCA407964040SLC52A3c.340T>A (p.Phe114Ile)
n.391T>A
20g.765436G>ACA9724794SLC52A3c.339C>T (p.Phe113=)
n.390C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765436G>CCA407964043SLC52A3c.339C>G (p.Phe113Leu)
n.390C>G
20g.765436G=CA2345350139SLC52A3c.339C= (p.Phe113=)
n.390C=
20g.765436G>TCA407964042SLC52A3c.339C>A (p.Phe113Leu)
n.390C>A
ClinVar
20g.765437A>CCA407964044SLC52A3c.338T>G (p.Phe113Cys)
n.389T>G
20g.765437A>GCA407964045SLC52A3c.338T>C (p.Phe113Ser)
n.389T>C
20g.765437A>TCA407964046SLC52A3c.338T>A (p.Phe113Tyr)
n.389T>A
20g.765438A>CCA407964047SLC52A3c.337T>G (p.Phe113Val)
n.388T>G
20g.765438A>GCA407964048SLC52A3c.337T>C (p.Phe113Leu)
n.388T>C
20g.765438A>TCA407964049SLC52A3c.337T>A (p.Phe113Ile)
n.388T>A
20g.765439G>ACA509542915SLC52A3c.336C>T (p.Thr112=)
n.387C>T
gnomAD v4
20g.765439G>CCA509542918SLC52A3c.336C>G (p.Thr112=)
n.387C>G
20g.765439G=CA2345350140SLC52A3c.336C= (p.Thr112=)
n.387C=
20g.765439G>TCA9724795SLC52A3c.336C>A (p.Thr112=)
n.387C>A
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765440G>ACA407964050SLC52A3c.335C>T (p.Thr112Ile)
n.386C>T
20g.765440G>CCA407964051SLC52A3c.335C>G (p.Thr112Ser)
n.386C>G
gnomAD v4
20g.765440G>TCA407964052SLC52A3c.335C>A (p.Thr112Asn)
n.386C>A
20g.765441T>ACA407964053SLC52A3c.334A>T (p.Thr112Ser)
n.385A>T
20g.765441T>CCA407964054SLC52A3c.334A>G (p.Thr112Ala)
n.385A>G
20g.765441T>GCA407964055SLC52A3c.334A>C (p.Thr112Pro)
n.385A>C
20g.765442G>ACA310679207SLC52A3c.333C>T (p.Leu111=)
n.384C>T
dbSNP gnomAD v4
20g.765442G>CCA509542925SLC52A3c.333C>G (p.Leu111=)
n.384C>G
20g.765442G=CA2345350141SLC52A3c.333C= (p.Leu111=)
n.384C=
20g.765442G>TCA509542927SLC52A3c.333C>A (p.Leu111=)
n.384C>A
20g.765443A=CA2345350142SLC52A3c.332T= (p.Leu111=)
n.383T=
20g.765443A>CCA407964056SLC52A3c.332T>G (p.Leu111Arg)
n.383T>G
20g.765443A>GCA407964057SLC52A3c.332T>C (p.Leu111Pro)
n.383T>C
dbSNP gnomAD v2 gnomAD v4
20g.765443A>TCA407964058SLC52A3c.332T>A (p.Leu111His)
n.383T>A
20g.765444G>ACA9724796SLC52A3c.331C>T (p.Leu111Phe)
n.382C>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765444G>CCA407964059SLC52A3c.331C>G (p.Leu111Val)
n.382C>G
20g.765444G=CA2345350143SLC52A3c.331C= (p.Leu111=)
n.382C=
20g.765444G>TCA407964060SLC52A3c.331C>A (p.Leu111Ile)
n.382C>A
20g.765445G>ACA509542933SLC52A3c.330C>T (p.Val110=)
n.381C>T
20g.765445G>CCA509542934SLC52A3c.330C>G (p.Val110=)
n.381C>G
20g.765445G>TCA509542935SLC52A3c.330C>A (p.Val110=)
n.381C>A
20g.765446A>CCA407964061SLC52A3c.329T>G (p.Val110Gly)
n.380T>G
20g.765446A>GCA407964062SLC52A3c.329T>C (p.Val110Ala)
n.380T>C
gnomAD v4
20g.765446A>TCA407964063SLC52A3c.329T>A (p.Val110Asp)
n.380T>A
20g.765447C>ACA9724797SLC52A3c.328G>T (p.Val110Phe)
n.379G>T
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765447C=CA2345350144SLC52A3c.328G= (p.Val110=)
n.379G=
20g.765447C>GCA407964064SLC52A3c.328G>C (p.Val110Leu)
n.379G>C
20g.765447C>TCA407964065SLC52A3c.328G>A (p.Val110Ile)
n.379G>A
20g.765448C>ACA407964067SLC52A3c.327G>T (p.Leu109Phe)
n.378G>T
ClinVar dbSNP gnomAD v4
20g.765448C=CA2345350145SLC52A3c.327G= (p.Leu109=)
n.378G=
20g.765448C>GCA407964066SLC52A3c.327G>C (p.Leu109Phe)
n.378G>C
20g.765448C>TCA509542944SLC52A3c.327G>A (p.Leu109=)
n.378G>A
gnomAD v4
20g.765449A>CCA407964068SLC52A3c.326T>G (p.Leu109Trp)
n.377T>G
20g.765449A>GCA407964069SLC52A3c.326T>C (p.Leu109Ser)
n.377T>C
20g.765449A>TCA407964070SLC52A3c.326T>A (p.Leu109Ter)
n.377T>A
20g.765450A>CCA407964071SLC52A3c.325T>G (p.Leu109Val)
n.376T>G
20g.765450A>GCA509542949SLC52A3c.325T>C (p.Leu109=)
n.376T>C
20g.765450A>TCA407964072SLC52A3c.325T>A (p.Leu109Met)
n.376T>A
20g.765451G>ACA509542951SLC52A3c.324C>T (p.Phe108=)
n.375C>T
20g.765451G>CCA407964074SLC52A3c.324C>G (p.Phe108Leu)
n.375C>G
20g.765451G>TCA407964075SLC52A3c.324C>A (p.Phe108Leu)
n.375C>A
20g.765452A>CCA407964076SLC52A3c.323T>G (p.Phe108Cys)
n.374T>G
20g.765452A>GCA407964078SLC52A3c.323T>C (p.Phe108Ser)
n.374T>C
20g.765452A>TCA407964077SLC52A3c.323T>A (p.Phe108Tyr)
n.374T>A
20g.765453A>CCA407964079SLC52A3c.322T>G (p.Phe108Val)
n.373T>G
20g.765453A>GCA407964080SLC52A3c.322T>C (p.Phe108Leu)
n.373T>C
gnomAD v4
20g.765453A>TCA407964081SLC52A3c.322T>A (p.Phe108Ile)
n.373T>A
20g.765454G>ACA9724798SLC52A3c.321C>T (p.Ala107=)
n.372C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765454G>CCA509542960SLC52A3c.321C>G (p.Ala107=)
n.372C>G
20g.765454G=CA2345350146SLC52A3c.321C= (p.Ala107=)
n.372C=
20g.765454G>TCA509542959SLC52A3c.321C>A (p.Ala107=)
n.372C>A

Number of alleles fetched