Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.765314_765337delinsAGGGCGGGCAAGAGGCCGCTGAGTCA2345350090SLC52A3c.438_461delinsACTCAGCGGCCTCTTGCCCGCCCT (p.Gly146=)
n.489_512delinsACTCAGCGGCCTCTTGCCCGCCCT
20g.765315_765337delCA9724773SLC52A3c.438_460del (p.Leu147GlyfsTer17)
n.489_511del
dbSNP ExAC
20g.765319G>ACA9724776SLC52A3c.456C>T (p.Pro152=)
n.507C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765319G>CCA509542717SLC52A3c.456C>G (p.Pro152=)
n.507C>G
20g.765319G=CA2345350094SLC52A3c.456C= (p.Pro152=)
n.507C=
20g.765319G>TCA509542718SLC52A3c.456C>A (p.Pro152=)
n.507C>A
dbSNP
20g.765320G>ACA407963797SLC52A3c.455C>T (p.Pro152Leu)
n.506C>T
dbSNP gnomAD v2 gnomAD v4
20g.765320G>CCA407963798SLC52A3c.455C>G (p.Pro152Arg)
n.506C>G
20g.765320G=CA2345350095SLC52A3c.455C= (p.Pro152=)
n.506C=
20g.765320G>TCA407963799SLC52A3c.455C>A (p.Pro152His)
n.506C>A
20g.765321G>ACA407963800SLC52A3c.454C>T (p.Pro152Ser)
n.505C>T
20g.765321G>CCA407963801SLC52A3c.454C>G (p.Pro152Ala)
n.505C>G
20g.765321G>TCA407963802SLC52A3c.454C>A (p.Pro152Thr)
n.505C>A
20g.765322C>ACA407963803SLC52A3c.453G>T (p.Leu151Phe)
n.504G>T
20g.765322C>GCA407963804SLC52A3c.453G>C (p.Leu151Phe)
n.504G>C
20g.765322C>TCA509542722SLC52A3c.453G>A (p.Leu151=)
n.504G>A
20g.765323A>CCA407963805SLC52A3c.452T>G (p.Leu151Trp)
n.503T>G
20g.765323A>GCA407963806SLC52A3c.452T>C (p.Leu151Ser)
n.503T>C
20g.765323A>TCA407963807SLC52A3c.452T>A (p.Leu151Ter)
n.503T>A
20g.765324A>CCA407963808SLC52A3c.451T>G (p.Leu151Val)
n.502T>G
20g.765324A>GCA509542724SLC52A3c.451T>C (p.Leu151=)
n.502T>C
gnomAD v4
20g.765324A>TCA407963809SLC52A3c.451T>A (p.Leu151Met)
n.502T>A
20g.765325G>ACA509542725SLC52A3c.450C>T (p.Leu150=)
n.501C>T
dbSNP gnomAD v4
20g.765325G>CCA509542726SLC52A3c.450C>G (p.Leu150=)
n.501C>G
gnomAD v4
20g.765325G=CA2345350096SLC52A3c.450C= (p.Leu150=)
n.501C=
20g.765325G>TCA509542727SLC52A3c.450C>A (p.Leu150=)
n.501C>A
20g.765326A>CCA407963810SLC52A3c.449T>G (p.Leu150Arg)
n.500T>G
20g.765326A>GCA407963811SLC52A3c.449T>C (p.Leu150Pro)
n.500T>C
20g.765326A>TCA407963812SLC52A3c.449T>A (p.Leu150His)
n.500T>A
20g.765327G>ACA9724777SLC52A3c.448C>T (p.Leu150Phe)
n.499C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765327G>CCA407963813SLC52A3c.448C>G (p.Leu150Val)
n.499C>G
20g.765327G=CA2345350097SLC52A3c.448C= (p.Leu150=)
n.499C=
20g.765327G>TCA407963814SLC52A3c.448C>A (p.Leu150Ile)
n.499C>A
20g.765328G>ACA509542730SLC52A3c.447C>T (p.Gly149=)
n.498C>T
gnomAD v4
20g.765328G>CCA509542732SLC52A3c.447C>G (p.Gly149=)
n.498C>G
20g.765328G=CA2345350098SLC52A3c.447C= (p.Gly149=)
n.498C=
20g.765328G>TCA9724778SLC52A3c.447C>A (p.Gly149=)
n.498C>A
dbSNP ExAC gnomAD v2 gnomAD v4
20g.765329C>ACA9724779SLC52A3c.446G>T (p.Gly149Val)
n.497G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765329C=CA2345350099SLC52A3c.446G= (p.Gly149=)
n.497G=
20g.765329C>GCA407963815SLC52A3c.446G>C (p.Gly149Ala)
n.497G>C
20g.765329C>TCA407963816SLC52A3c.446G>A (p.Gly149Asp)
n.497G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.765330C>ACA407963817SLC52A3c.445G>T (p.Gly149Cys)
n.496G>T
20g.765330C=CA2345350100SLC52A3c.445G= (p.Gly149=)
n.496G=
20g.765330C>GCA407963818SLC52A3c.445G>C (p.Gly149Arg)
n.496G>C
20g.765330C>TCA407963819SLC52A3c.445G>A (p.Gly149Ser)
n.496G>A
ClinVar dbSNP
20g.765331G>ACA9724780SLC52A3c.444C>T (p.Ser148=)
n.495C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765331G>CCA407963821SLC52A3c.444C>G (p.Ser148Arg)
n.495C>G
20g.765331G=CA2345350101SLC52A3c.444C= (p.Ser148=)
n.495C=
20g.765331G>TCA407963820SLC52A3c.444C>A (p.Ser148Arg)
n.495C>A
20g.765332C>ACA407963822SLC52A3c.443G>T (p.Ser148Ile)
n.494G>T
20g.765332C=CA2345350102SLC52A3c.443G= (p.Ser148=)
n.494G=
20g.765332C>GCA407963823SLC52A3c.443G>C (p.Ser148Thr)
n.494G>C
20g.765332C>TCA407963824SLC52A3c.443G>A (p.Ser148Asn)
n.494G>A
dbSNP gnomAD v3 gnomAD v4
20g.765333T>ACA407963825SLC52A3c.442A>T (p.Ser148Cys)
n.493A>T
20g.765333T>CCA407963826SLC52A3c.442A>G (p.Ser148Gly)
n.493A>G
20g.765333T>GCA407963827SLC52A3c.442A>C (p.Ser148Arg)
n.493A>C
20g.765334G>ACA509542737SLC52A3c.441C>T (p.Leu147=)
n.492C>T
20g.765334G>CCA509542738SLC52A3c.441C>G (p.Leu147=)
n.492C>G
20g.765334G=CA2345350103SLC52A3c.441C= (p.Leu147=)
n.492C=
20g.765334G>TCA9724781SLC52A3c.441C>A (p.Leu147=)
n.492C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765335A>CCA407963828SLC52A3c.440T>G (p.Leu147Arg)
n.491T>G
20g.765335A>GCA407963829SLC52A3c.440T>C (p.Leu147Pro)
n.491T>C
20g.765335A>TCA407963830SLC52A3c.440T>A (p.Leu147His)
n.491T>A
20g.765336G>ACA407963831SLC52A3c.439C>T (p.Leu147Phe)
n.490C>T
20g.765336G>CCA407963832SLC52A3c.439C>G (p.Leu147Val)
n.490C>G
20g.765336G=CA2345350104SLC52A3c.439C= (p.Leu147=)
n.490C=
20g.765336G>TCA9724782SLC52A3c.439C>A (p.Leu147Ile)
n.490C>A
dbSNP ExAC
20g.765337T>ACA509542742SLC52A3c.438A>T (p.Gly146=)
n.489A>T
20g.765337T>CCA9724783SLC52A3c.438A>G (p.Gly146=)
n.489A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.765337T>GCA509542744SLC52A3c.438A>C (p.Gly146=)
n.489A>C
20g.765337T=CA2345350105SLC52A3c.438A= (p.Gly146=)
n.489A=
20g.765338C>ACA407963834SLC52A3c.437G>T (p.Gly146Val)
n.488G>T
20g.765338C>GCA407963835SLC52A3c.437G>C (p.Gly146Ala)
n.488G>C
20g.765338C>TCA407963833SLC52A3c.437G>A (p.Gly146Glu)
n.488G>A
20g.765339C>ACA407963836SLC52A3c.436G>T (p.Gly146Ter)
n.487G>T
20g.765339C=CA2345350106SLC52A3c.436G= (p.Gly146=)
n.487G=
20g.765339C>GCA407963837SLC52A3c.436G>C (p.Gly146Arg)
n.487G>C
20g.765339C>TCA407963838SLC52A3c.436G>A (p.Gly146Arg)
n.487G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.765340T>ACA407963839SLC52A3c.435A>T (p.Glu145Asp)
n.486A>T
20g.765340T>CCA509542746SLC52A3c.435A>G (p.Glu145=)
n.486A>G
20g.765340T>GCA407963840SLC52A3c.435A>C (p.Glu145Asp)
n.486A>C
20g.765341T>ACA407963841SLC52A3c.434A>T (p.Glu145Val)
n.485A>T
20g.765341T>CCA407963842SLC52A3c.434A>G (p.Glu145Gly)
n.485A>G
20g.765341T>GCA407963843SLC52A3c.434A>C (p.Glu145Ala)
n.485A>C
20g.765341_765382delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCA2345350107SLC52A3c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA (p.Ser131=)
n.444_485delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA
20g.765342C>ACA407963844SLC52A3c.433G>T (p.Glu145Ter)
n.484G>T
20g.765342C>GCA407963845SLC52A3c.433G>C (p.Glu145Gln)
n.484G>C
COSMIC COSMIC
20g.765342C>TCA407963846SLC52A3c.433G>A (p.Glu145Lys)
n.484G>A
20g.765343_765383delCA9724784SLC52A3c.393_433del (p.Ser131ArgfsTer27)
n.444_484del
dbSNP ExAC
20g.765343A=CA2345350108SLC52A3c.432T= (p.Gly144=)
n.483T=
20g.765343A>CCA509542750SLC52A3c.432T>G (p.Gly144=)
n.483T>G
20g.765343A>GCA509542752SLC52A3c.432T>C (p.Gly144=)
n.483T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.765343A>TCA509542754SLC52A3c.432T>A (p.Gly144=)
n.483T>A
20g.765344C>ACA407963849SLC52A3c.431G>T (p.Gly144Val)
n.482G>T
20g.765344C>GCA407963847SLC52A3c.431G>C (p.Gly144Ala)
n.482G>C
20g.765344C>TCA407963848SLC52A3c.431G>A (p.Gly144Asp)
n.482G>A
gnomAD v4
20g.765345C>ACA407963850SLC52A3c.430G>T (p.Gly144Cys)
n.481G>T
20g.765345C=CA2345350109SLC52A3c.430G= (p.Gly144=)
n.481G=
20g.765345C>GCA407963851SLC52A3c.430G>C (p.Gly144Arg)
n.481G>C
20g.765345C>TCA310679104SLC52A3c.430G>A (p.Gly144Ser)
n.481G>A
dbSNP
20g.765346C>ACA509542755SLC52A3c.429G>T (p.Val143=)
n.480G>T
20g.765346C>GCA509542757SLC52A3c.429G>C (p.Val143=)
n.480G>C
20g.765346C>TCA509542758SLC52A3c.429G>A (p.Val143=)
n.480G>A
20g.765347A>CCA407963852SLC52A3c.428T>G (p.Val143Gly)
n.479T>G
20g.765347A>GCA407963853SLC52A3c.428T>C (p.Val143Ala)
n.479T>C
20g.765347A>TCA407963854SLC52A3c.428T>A (p.Val143Glu)
n.479T>A
20g.765348C>ACA407963855SLC52A3c.427G>T (p.Val143Leu)
n.478G>T
20g.765348C>GCA407963856SLC52A3c.427G>C (p.Val143Leu)
n.478G>C
20g.765348C>TCA407963857SLC52A3c.427G>A (p.Val143Met)
n.478G>A
20g.765349A=CA2345350110SLC52A3c.426T= (p.Phe142=)
n.477T=
20g.765349A>CCA407963858SLC52A3c.426T>G (p.Phe142Leu)
n.477T>G
20g.765349A>GCA509542760SLC52A3c.426T>C (p.Phe142=)
n.477T>C
20g.765349A>TCA407963859SLC52A3c.426T>A (p.Phe142Leu)
n.477T>A
dbSNP
20g.765349_765352delinsAAAGCA2345350111SLC52A3c.423_426delinsCTTT (p.Phe141=)
n.474_477delinsCTTT
20g.765350A>CCA407963862SLC52A3c.425T>G (p.Phe142Cys)
n.476T>G
20g.765350A>GCA407963861SLC52A3c.425T>C (p.Phe142Ser)
n.476T>C
20g.765350A>TCA407963860SLC52A3c.425T>A (p.Phe142Tyr)
n.476T>A
20g.765353_765355delCA2345350112SLC52A3c.423_425del (p.Phe142del)
n.474_476del
dbSNP
20g.765351A>CCA407963863SLC52A3c.424T>G (p.Phe142Val)
n.475T>G
20g.765351A>GCA407963865SLC52A3c.424T>C (p.Phe142Leu)
n.475T>C
20g.765351A>TCA407963864SLC52A3c.424T>A (p.Phe142Ile)
n.475T>A
20g.765352G>ACA509542761SLC52A3c.423C>T (p.Phe141=)
n.474C>T
20g.765352G>CCA407963866SLC52A3c.423C>G (p.Phe141Leu)
n.474C>G
20g.765352G>TCA407963867SLC52A3c.423C>A (p.Phe141Leu)
n.474C>A
20g.765353A>CCA407963868SLC52A3c.422T>G (p.Phe141Cys)
n.473T>G
20g.765353A>GCA407963870SLC52A3c.422T>C (p.Phe141Ser)
n.473T>C
20g.765353A>TCA407963869SLC52A3c.422T>A (p.Phe141Tyr)
n.473T>A
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

Number of alleles fetched