Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.761017G>ACA2651546430SLC52A3c.*633C>T (n.*633C>T)
c.913C>T (p.Pro305Ser)
c.*9C>T (n.*9C>T)
 gnomAD v4
20g.761018C>ACA2577315054SLC52A3c.*632G>T (n.*632G>T)
c.912G>T (p.Pro304=)
c.*8G>T (n.*8G>T)
 gnomAD v4
20g.761018C=CA2345348043SLC52A3c.*632G= (n.*632G=)
c.912G= (p.Pro304=)
c.*8G= (n.*8G=)
20g.761018C>TCA746663290SLC52A3c.*632G>A (n.*632G>A)
c.912G>A (p.Pro304=)
c.*8G>A (n.*8G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.761019G>CCA2651546431SLC52A3c.*631C>G (n.*631C>G)
c.911C>G (p.Pro304Arg)
c.*7C>G (n.*7C>G)
 gnomAD v4
20g.761019G>TCA2651546432SLC52A3c.*631C>A (n.*631C>A)
c.911C>A (p.Pro304Gln)
c.*7C>A (n.*7C>A)
 gnomAD v4
20g.761020G>ACA2651546433SLC52A3c.*630C>T (n.*630C>T)
c.910C>T (p.Pro304Ser)
c.*6C>T (n.*6C>T)
 gnomAD v4
20g.761021C=CA2345348044SLC52A3c.*629G= (n.*629G=)
c.909G= (p.Arg303=)
c.*5G= (n.*5G=)
20g.761021C>TCA634326141SLC52A3c.*629G>A (n.*629G>A)
c.909G>A (p.Arg303=)
c.*5G>A (n.*5G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.761023T>GCA2345348046SLC52A3c.*627A>C (n.*627A>C)
c.907A>C (p.Arg303=)
c.*3A>C (n.*3A>C)
 dbSNP
20g.761023T=CA2345348045SLC52A3c.*627A= (n.*627A=)
c.907A= (p.Arg303=)
c.*3A= (n.*3A=)
20g.761024G>ACA310673915SLC52A3c.*626C>T (n.*626C>T)
c.906C>T (p.Gly302=)
c.*2C>T (n.*2C>T)
n.957C>T
 dbSNP gnomAD v4
20g.761024G>CCA2651546434SLC52A3c.*626C>G (n.*626C>G)
c.906C>G (p.Gly302=)
c.*2C>G (n.*2C>G)
n.957C>G
 gnomAD v4
20g.761024G=CA2345348047SLC52A3c.*626C= (n.*626C=)
c.906C= (p.Gly302=)
c.*2C= (n.*2C=)
n.957C=
20g.761024G>TCA2651546435SLC52A3c.*626C>A (n.*626C>A)
c.906C>A (p.Gly302=)
c.*2C>A (n.*2C>A)
n.957C>A
 gnomAD v4
20g.761024_761028delinsGCCTACA2345348048SLC52A3c.*622_*626delinsTAGGC (n.*622_*626delinsTAGGC)
c.902_906delinsTAGGC (p.Leu301=)
c.1408_*2delinsTAGGC (n.[c.1408_*2delinsTAGGC;Ter470=])
n.953_957delinsTAGGC
20g.761025C>ACA2651546436SLC52A3c.*625G>T (n.*625G>T)
c.905G>T (p.Gly302Val)
c.*1G>T (n.*1G>T)
n.956G>T
 gnomAD v4
20g.761025C=CA2345348050SLC52A3c.*625G= (n.*625G=)
c.905G= (p.Gly302=)
c.*1G= (n.*1G=)
n.956G=
20g.761025C>TCA634326142SLC52A3c.*625G>A (n.*625G>A)
c.905G>A (p.Gly302Asp)
c.*1G>A (n.*1G>A)
n.956G>A
 dbSNP gnomAD v2 gnomAD v4
20g.761026delCA2577315055SLC52A3c.*625del (n.*625del)
c.905del (p.Gly302AlafsTer?)
c.*1del (n.*1del)
n.956del
20g.761025_761028delCA2345348049SLC52A3c.*622_*625del (n.*622_*625del)
c.902_905del (p.Leu301ProfsTer?)
c.1408_*1del (n.[c.1408_*1del;Ter470GlnextTer?])
n.953_956del
 dbSNP
20g.761026C>ACA407961703SLC52A3c.*624G>T (n.*624G>T)
c.904G>T (p.Gly302Cys)
c.1410G>T (p.Ter470Tyr)
n.955G>T
 gnomAD v4
20g.761026C>GCA407961704SLC52A3c.*624G>C (n.*624G>C)
c.904G>C (p.Gly302Arg)
c.1410G>C (p.Ter470Tyr)
n.955G>C
20g.761026C>TCA509341279SLC52A3c.*624G>A (n.*624G>A)
c.904G>A (p.Gly302Ser)
c.1410G>A (p.Ter470=)
n.955G>A
20g.761027T>ACA407961705SLC52A3c.*623A>T (n.*623A>T)
c.903A>T (p.Leu301=)
c.1409A>T (p.Ter470Leu)
n.954A>T
20g.761027T>CCA407961706SLC52A3c.*623A>G (n.*623A>G)
c.903A>G (p.Leu301=)
c.1409A>G (p.Ter470Trp)
n.954A>G
20g.761027T>GCA407961707SLC52A3c.*623A>C (n.*623A>C)
c.903A>C (p.Leu301=)
c.1409A>C (p.Ter470Ser)
n.954A>C
20g.761028A>CCA407961708SLC52A3c.*622T>G (n.*622T>G)
c.902T>G (p.Leu301Arg)
c.1408T>G (p.Ter470Glu)
n.953T>G
20g.761028A>GCA407961709SLC52A3c.*622T>C (n.*622T>C)
c.902T>C (p.Leu301Pro)
c.1408T>C (p.Ter470Gln)
n.953T>C
20g.761028A>TCA407961710SLC52A3c.*622T>A (n.*622T>A)
c.902T>A (p.Leu301Gln)
c.1408T>A (p.Ter470Lys)
n.953T>A
20g.761029G>ACA509341282SLC52A3c.*621C>T (n.*621C>T)
c.901C>T (p.Leu301=)
c.1407C>T (p.Ala469=)
n.952C>T
 dbSNP
20g.761029G>CCA509341281SLC52A3c.*621C>G (n.*621C>G)
c.901C>G (p.Leu301Val)
c.1407C>G (p.Ala469=)
n.952C>G
 ClinVar dbSNP gnomAD v4
20g.761029G=CA2345348051SLC52A3c.*621C= (n.*621C=)
c.901C= (p.Leu301=)
c.1407C= (p.Ala469=)
n.952C=
20g.761029G>TCA509341280SLC52A3c.*621C>A (n.*621C>A)
c.901C>A (p.Leu301Ile)
c.1407C>A (p.Ala469=)
n.952C>A
 gnomAD v4
20g.761030G>ACA407961713SLC52A3c.*620C>T (n.*620C>T)
c.900C>T (p.Ser300=)
c.1406C>T (p.Ala469Val)
n.951C>T
 gnomAD v4
20g.761030G>CCA407961712SLC52A3c.*620C>G (n.*620C>G)
c.900C>G (p.Ser300Arg)
c.1406C>G (p.Ala469Gly)
n.951C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761030G=CA2345348052SLC52A3c.*620C= (n.*620C=)
c.900C= (p.Ser300=)
c.1406C= (p.Ala469=)
n.951C=
20g.761030G>TCA407961711SLC52A3c.*620C>A (n.*620C>A)
c.900C>A (p.Ser300Arg)
c.1406C>A (p.Ala469Asp)
n.951C>A
 dbSNP
20g.761031C>ACA407961714SLC52A3c.*619G>T (n.*619G>T)
c.899G>T (p.Ser300Ile)
c.1405G>T (p.Ala469Ser)
n.950G>T
20g.761031C=CA2345348053SLC52A3c.*619G= (n.*619G=)
c.899G= (p.Ser300=)
c.1405G= (p.Ala469=)
n.950G=
20g.761031C>GCA407961715SLC52A3c.*619G>C (n.*619G>C)
c.899G>C (p.Ser300Thr)
c.1405G>C (p.Ala469Pro)
n.950G>C
 gnomAD v4
20g.761031C>TCA407961716SLC52A3c.*619G>A (n.*619G>A)
c.899G>A (p.Ser300Asn)
c.1405G>A (p.Ala469Thr)
n.950G>A
 dbSNP gnomAD v4
20g.761032T>ACA509341283SLC52A3c.*618A>T (n.*618A>T)
c.898A>T (p.Ser300Cys)
c.1404A>T (p.Pro468=)
n.949A>T
20g.761032T>CCA509341284SLC52A3c.*618A>G (n.*618A>G)
c.898A>G (p.Ser300Gly)
c.1404A>G (p.Pro468=)
n.949A>G
 dbSNP gnomAD v3 gnomAD v4
20g.761032T>GCA509341285SLC52A3c.*618A>C (n.*618A>C)
c.898A>C (p.Ser300Arg)
c.1404A>C (p.Pro468=)
n.949A>C
 dbSNP
20g.761032T=CA2345348054SLC52A3c.*618A= (n.*618A=)
c.898A= (p.Ser300=)
c.1404A= (p.Pro468=)
n.949A=
20g.761033G>ACA407961717SLC52A3c.*617C>T (n.*617C>T)
c.897C>T (p.Ser299=)
c.1403C>T (p.Pro468Leu)
n.948C>T
20g.761033G>CCA407961718SLC52A3c.*617C>G (n.*617C>G)
c.897C>G (p.Ser299=)
c.1403C>G (p.Pro468Arg)
n.948C>G
20g.761033G>TCA407961719SLC52A3c.*617C>A (n.*617C>A)
c.897C>A (p.Ser299=)
c.1403C>A (p.Pro468Gln)
n.948C>A
20g.761053_761054insGCAGGACAGTGCAGATTGCAGAAGCA915952285SLC52A3c.*617_*618insTGCCTTCTGCAATCTGCACTGTCC (n.*617_*618insTGCCTTCTGCAATCTGCACTGTCC)
c.897_898insTGCCTTCTGCAATCTGCACTGTCC (p.Ser299_Ser300insCysLeuLeuGlnSerAlaLeuSer)
c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Pro468_Ala469insAlaPheCysAsnLeuHisCysPro)
n.948_949insTGCCTTCTGCAATCTGCACTGTCC
 ClinVar dbSNP
20g.761034G>ACA407961722SLC52A3c.*616C>T (n.*616C>T)
c.896C>T (p.Ser299Phe)
c.1402C>T (p.Pro468Ser)
n.947C>T
20g.761034G>CCA407961720SLC52A3c.*616C>G (n.*616C>G)
c.896C>G (p.Ser299Cys)
c.1402C>G (p.Pro468Ala)
n.947C>G
20g.761034G>TCA407961721SLC52A3c.*616C>A (n.*616C>A)
c.896C>A (p.Ser299Tyr)
c.1402C>A (p.Pro468Thr)
n.947C>A
20g.761035A>CCA407961723SLC52A3c.*615T>G (n.*615T>G)
c.895T>G (p.Ser299Ala)
c.1401T>G (p.Cys467Trp)
n.946T>G
20g.761035A>GCA509341286SLC52A3c.*615T>C (n.*615T>C)
c.895T>C (p.Ser299Pro)
c.1401T>C (p.Cys467=)
n.946T>C
 gnomAD v4
20g.761035A>TCA407961724SLC52A3c.*615T>A (n.*615T>A)
c.895T>A (p.Ser299Thr)
c.1401T>A (p.Cys467Ter)
n.946T>A
20g.761036C>ACA407961725SLC52A3c.*614G>T (n.*614G>T)
c.894G>T (p.Leu298=)
c.1400G>T (p.Cys467Phe)
n.945G>T
 gnomAD v4
20g.761036C=CA2345348055SLC52A3c.*614G= (n.*614G=)
c.894G= (p.Leu298=)
c.1400G= (p.Cys467=)
n.945G=
20g.761036C>GCA407961726SLC52A3c.*614G>C (n.*614G>C)
c.894G>C (p.Leu298=)
c.1400G>C (p.Cys467Ser)
n.945G>C
 gnomAD v4
20g.761036C>TCA407961727SLC52A3c.*614G>A (n.*614G>A)
c.894G>A (p.Leu298=)
c.1400G>A (p.Cys467Tyr)
n.945G>A
 gnomAD v4
20g.761036_761037insTCA2345348056SLC52A3c.*613_*614insA (n.*613_*614insA)
c.893_894insA (p.Ser299ValfsTer?)
c.1399_1400insA (p.Cys467Ter)
n.944_945insA
 dbSNP
20g.761037A>CCA407961728SLC52A3c.*613T>G (n.*613T>G)
c.893T>G (p.Leu298Arg)
c.1399T>G (p.Cys467Gly)
n.944T>G
20g.761037A>GCA407961730SLC52A3c.*613T>C (n.*613T>C)
c.893T>C (p.Leu298Pro)
c.1399T>C (p.Cys467Arg)
n.944T>C
20g.761037A>TCA407961729SLC52A3c.*613T>A (n.*613T>A)
c.893T>A (p.Leu298Gln)
c.1399T>A (p.Cys467Ser)
n.944T>A
 dbSNP
20g.761038G>ACA509341287SLC52A3c.*612C>T (n.*612C>T)
c.892C>T (p.Leu298=)
c.1398C>T (p.His466=)
n.943C>T
 gnomAD v4
20g.761038G>CCA407961731SLC52A3c.*612C>G (n.*612C>G)
c.892C>G (p.Leu298Val)
c.1398C>G (p.His466Gln)
n.943C>G
 gnomAD v4
20g.761038G>TCA407961732SLC52A3c.*612C>A (n.*612C>A)
c.892C>A (p.Leu298Met)
c.1398C>A (p.His466Gln)
n.943C>A
 gnomAD v4
20g.761039T>ACA407961733SLC52A3c.*611A>T (n.*611A>T)
c.891A>T (p.Ala297=)
c.1397A>T (p.His466Leu)
n.942A>T
20g.761039T>CCA9724503SLC52A3c.*611A>G (n.*611A>G)
c.891A>G (p.Ala297=)
c.1397A>G (p.His466Arg)
n.942A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761039T>GCA407961734SLC52A3c.*611A>C (n.*611A>C)
c.891A>C (p.Ala297=)
c.1397A>C (p.His466Pro)
n.942A>C
20g.761039T=CA2345348057SLC52A3c.*611A= (n.*611A=)
c.891A= (p.Ala297=)
c.1397A= (p.His466=)
n.942A=
20g.761040G>ACA9724504SLC52A3c.*610C>T (n.*610C>T)
c.890C>T (p.Ala297Val)
c.1396C>T (p.His466Tyr)
n.941C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761040G>CCA407961735SLC52A3c.*610C>G (n.*610C>G)
c.890C>G (p.Ala297Gly)
c.1396C>G (p.His466Asp)
n.941C>G
20g.761040G=CA2345348058SLC52A3c.*610C= (n.*610C=)
c.890C= (p.Ala297=)
c.1396C= (p.His466=)
n.941C=
20g.761040G>TCA407961736SLC52A3c.*610C>A (n.*610C>A)
c.890C>A (p.Ala297Glu)
c.1396C>A (p.His466Asn)
n.941C>A
20g.761041C>ACA509341288SLC52A3c.*609G>T (n.*609G>T)
c.889G>T (p.Ala297Ser)
c.1395G>T (p.Leu465=)
n.940G>T
20g.761041C>GCA509341289SLC52A3c.*609G>C (n.*609G>C)
c.889G>C (p.Ala297Pro)
c.1395G>C (p.Leu465=)
n.940G>C
20g.761041C>TCA509341290SLC52A3c.*609G>A (n.*609G>A)
c.889G>A (p.Ala297Thr)
c.1395G>A (p.Leu465=)
n.940G>A
20g.761042A=CA2345348059SLC52A3c.*608T= (n.*608T=)
c.888T= (p.Ser296=)
c.1394T= (p.Leu465=)
n.939T=
20g.761042A>CCA407961737SLC52A3c.*608T>G (n.*608T>G)
c.888T>G (p.Ser296=)
c.1394T>G (p.Leu465Arg)
n.939T>G
20g.761042A>GCA310673928SLC52A3c.*608T>C (n.*608T>C)
c.888T>C (p.Ser296=)
c.1394T>C (p.Leu465Pro)
n.939T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761042A>TCA407961738SLC52A3c.*608T>A (n.*608T>A)
c.888T>A (p.Ser296=)
c.1394T>A (p.Leu465Gln)
n.939T>A
20g.761043G>ACA509341291SLC52A3c.*607C>T (n.*607C>T)
c.887C>T (p.Ser296Phe)
c.1393C>T (p.Leu465=)
n.938C>T
20g.761043G>CCA407961740SLC52A3c.*607C>G (n.*607C>G)
c.887C>G (p.Ser296Cys)
c.1393C>G (p.Leu465Val)
n.938C>G
 COSMIC
20g.761043G=CA2345348060SLC52A3c.*607C= (n.*607C=)
c.887C= (p.Ser296=)
c.1393C= (p.Leu465=)
n.938C=
20g.761043G>TCA407961739SLC52A3c.*607C>A (n.*607C>A)
c.887C>A (p.Ser296Tyr)
c.1393C>A (p.Leu465Met)
n.938C>A
 dbSNP gnomAD v2 gnomAD v4
20g.761044A>CCA407961741SLC52A3c.*606T>G (n.*606T>G)
c.886T>G (p.Ser296Ala)
c.1392T>G (p.Asn464Lys)
n.937T>G
20g.761044A>GCA509341292SLC52A3c.*606T>C (n.*606T>C)
c.886T>C (p.Ser296Pro)
c.1392T>C (p.Asn464=)
n.937T>C
20g.761044A>TCA407961742SLC52A3c.*606T>A (n.*606T>A)
c.886T>A (p.Ser296Thr)
c.1392T>A (p.Asn464Lys)
n.937T>A
20g.761045T>ACA407961743SLC52A3c.*605A>T (n.*605A>T)
c.885A>T (p.Gln295His)
c.1391A>T (p.Asn464Ile)
n.936A>T
20g.761045T>CCA407961744SLC52A3c.*605A>G (n.*605A>G)
c.885A>G (p.Gln295=)
c.1391A>G (p.Asn464Ser)
n.936A>G
20g.761045T>GCA407961745SLC52A3c.*605A>C (n.*605A>C)
c.885A>C (p.Gln295His)
c.1391A>C (p.Asn464Thr)
n.936A>C
20g.761046T>ACA407961746SLC52A3c.*604A>T (n.*604A>T)
c.884A>T (p.Gln295Leu)
c.1390A>T (p.Asn464Tyr)
n.935A>T
20g.761046T>CCA407961747SLC52A3c.*604A>G (n.*604A>G)
c.884A>G (p.Gln295Arg)
c.1390A>G (p.Asn464Asp)
n.935A>G
20g.761046T>GCA407961748SLC52A3c.*604A>C (n.*604A>C)
c.884A>C (p.Gln295Pro)
c.1390A>C (p.Asn464His)
n.935A>C
20g.761047G>ACA509341293SLC52A3c.*603C>T (n.*603C>T)
c.883C>T (p.Gln295Ter)
c.1389C>T (p.Cys463=)
n.934C>T
20g.761047G>CCA407961749SLC52A3c.*603C>G (n.*603C>G)
c.883C>G (p.Gln295Glu)
c.1389C>G (p.Cys463Trp)
n.934C>G
20g.761047G>TCA407961750SLC52A3c.*603C>A (n.*603C>A)
c.883C>A (p.Gln295Lys)
c.1389C>A (p.Cys463Ter)
n.934C>A
20g.761048C>ACA407961751SLC52A3c.*602G>T (n.*602G>T)
c.882G>T (p.Leu294=)
c.1388G>T (p.Cys463Phe)
n.933G>T
 gnomAD v4
20g.761048C>GCA407961752SLC52A3c.*602G>C (n.*602G>C)
c.882G>C (p.Leu294=)
c.1388G>C (p.Cys463Ser)
n.933G>C
20g.761048C>TCA407961753SLC52A3c.*602G>A (n.*602G>A)
c.882G>A (p.Leu294=)
c.1388G>A (p.Cys463Tyr)
n.933G>A
20g.761049A=CA2345348061SLC52A3c.*601T= (n.*601T=)
c.881T= (p.Leu294=)
c.1387T= (p.Cys463=)
n.932T=
20g.761049A>CCA407961754SLC52A3c.*601T>G (n.*601T>G)
c.881T>G (p.Leu294Arg)
c.1387T>G (p.Cys463Gly)
n.932T>G
 dbSNP
20g.761049A>GCA407961755SLC52A3c.*601T>C (n.*601T>C)
c.881T>C (p.Leu294Pro)
c.1387T>C (p.Cys463Arg)
n.932T>C
20g.761049A>TCA407961756SLC52A3c.*601T>A (n.*601T>A)
c.881T>A (p.Leu294Gln)
c.1387T>A (p.Cys463Ser)
n.932T>A
20g.761050G>ACA509341294SLC52A3c.*600C>T (n.*600C>T)
c.880C>T (p.Leu294=)
c.1386C>T (p.Phe462=)
n.931C>T
 dbSNP gnomAD v2 gnomAD v4
20g.761050G>CCA407961757SLC52A3c.*600C>G (n.*600C>G)
c.880C>G (p.Leu294Val)
c.1386C>G (p.Phe462Leu)
n.931C>G
20g.761050G=CA2345348062SLC52A3c.*600C= (n.*600C=)
c.880C= (p.Leu294=)
c.1386C= (p.Phe462=)
n.931C=
20g.761050G>TCA9724505SLC52A3c.*600C>A (n.*600C>A)
c.880C>A (p.Leu294Met)
c.1386C>A (p.Phe462Leu)
n.931C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761051A>CCA407961758SLC52A3c.*599T>G (n.*599T>G)
c.879T>G (p.Leu293=)
c.1385T>G (p.Phe462Cys)
n.930T>G
20g.761051A>GCA407961759SLC52A3c.*599T>C (n.*599T>C)
c.879T>C (p.Leu293=)
c.1385T>C (p.Phe462Ser)
n.930T>C
 gnomAD v4
20g.761051A>TCA407961760SLC52A3c.*599T>A (n.*599T>A)
c.879T>A (p.Leu293=)
c.1385T>A (p.Phe462Tyr)
n.930T>A
20g.761052A>CCA407961761SLC52A3c.*598T>G (n.*598T>G)
c.878T>G (p.Leu293Arg)
c.1384T>G (p.Phe462Val)
n.929T>G
20g.761052A>GCA407961762SLC52A3c.*598T>C (n.*598T>C)
c.878T>C (p.Leu293Pro)
c.1384T>C (p.Phe462Leu)
n.929T>C
 gnomAD v4
20g.761052A>TCA407961763SLC52A3c.*598T>A (n.*598T>A)
c.878T>A (p.Leu293His)
c.1384T>A (p.Phe462Ile)
n.929T>A
20g.761053G>ACA509341295SLC52A3c.*597C>T (n.*597C>T)
c.877C>T (p.Leu293Phe)
c.1383C>T (p.Asp461=)
n.928C>T
20g.761053G>CCA407961764SLC52A3c.*597C>G (n.*597C>G)
c.877C>G (p.Leu293Val)
c.1383C>G (p.Asp461Glu)
n.928C>G
20g.761053G>TCA407961765SLC52A3c.*597C>A (n.*597C>A)
c.877C>A (p.Leu293Ile)
c.1383C>A (p.Asp461Glu)
n.928C>A
20g.761054T>ACA407961766SLC52A3c.*596A>T (n.*596A>T)
c.876A>T (p.Gly292=)
c.1382A>T (p.Asp461Val)
n.927A>T
20g.761054T>CCA407961767SLC52A3c.*596A>G (n.*596A>G)
c.876A>G (p.Gly292=)
c.1382A>G (p.Asp461Gly)
n.927A>G
20g.761054T>GCA407961768SLC52A3c.*596A>C (n.*596A>C)
c.876A>C (p.Gly292=)
c.1382A>C (p.Asp461Ala)
n.927A>C
20g.761054_761070delinsTCCGCGGACGAGAAGAGCA2345348063SLC52A3c.*580_*596delinsCTCTTCTCGTCCGCGGA (n.*580_*596delinsCTCTTCTCGTCCGCGGA)
c.860_876delinsCTCTTCTCGTCCGCGGA (p.Ala287=)
c.1366_1382delinsCTCTTCTCGTCCGCGGA (p.Leu456=)
n.911_927delinsCTCTTCTCGTCCGCGGA
20g.761055C>ACA9724506SLC52A3c.*595G>T (n.*595G>T)
c.875G>T (p.Gly292Val)
c.1381G>T (p.Asp461Tyr)
n.926G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761055C=CA2345348064SLC52A3c.*595G= (n.*595G=)
c.875G= (p.Gly292=)
c.1381G= (p.Asp461=)
n.926G=
20g.761055C>GCA407961770SLC52A3c.*595G>C (n.*595G>C)
c.875G>C (p.Gly292Ala)
c.1381G>C (p.Asp461His)
n.926G>C
20g.761055C>TCA407961769SLC52A3c.*595G>A (n.*595G>A)
c.875G>A (p.Gly292Glu)
c.1381G>A (p.Asp461Asn)
n.926G>A
20g.761059_761074delCA634326143SLC52A3c.*580_*595del (n.*580_*595del)
c.860_875del (p.Ala287AspfsTer10)
c.1366_1381del (p.Leu456ThrfsTer?)
n.911_926del
 dbSNP gnomAD v2 gnomAD v4
20g.761056C>ACA509341296SLC52A3c.*594G>T (n.*594G>T)
c.874G>T (p.Gly292Ter)
c.1380G>T (p.Ala460=)
n.925G>T
 dbSNP
20g.761056C>GCA509341297SLC52A3c.*594G>C (n.*594G>C)
c.874G>C (p.Gly292Arg)
c.1380G>C (p.Ala460=)
n.925G>C
 ClinVar gnomAD v4
20g.761056C>TCA509341298SLC52A3c.*594G>A (n.*594G>A)
c.874G>A (p.Gly292Arg)
c.1380G>A (p.Ala460=)
n.925G>A
 gnomAD v4
20g.761057G>ACA407961771SLC52A3c.*593C>T (n.*593C>T)
c.873C>T (p.Arg291=)
c.1379C>T (p.Ala460Val)
n.924C>T
 dbSNP
20g.761057G>CCA407961772SLC52A3c.*593C>G (n.*593C>G)
c.873C>G (p.Arg291=)
c.1379C>G (p.Ala460Gly)
n.924C>G
20g.761057G=CA2345348065SLC52A3c.*593C= (n.*593C=)
c.873C= (p.Arg291=)
c.1379C= (p.Ala460=)
n.924C=
20g.761057G>TCA407961773SLC52A3c.*593C>A (n.*593C>A)
c.873C>A (p.Arg291=)
c.1379C>A (p.Ala460Glu)
n.924C>A
20g.761058C>ACA407961774SLC52A3c.*592G>T (n.*592G>T)
c.872G>T (p.Arg291Leu)
c.1378G>T (p.Ala460Ser)
n.923G>T
20g.761058C=CA2345348066SLC52A3c.*592G= (n.*592G=)
c.872G= (p.Arg291=)
c.1378G= (p.Ala460=)
n.923G=
20g.761058C>GCA407961775SLC52A3c.*592G>C (n.*592G>C)
c.872G>C (p.Arg291Pro)
c.1378G>C (p.Ala460Pro)
n.923G>C
20g.761058C>TCA407961776SLC52A3c.*592G>A (n.*592G>A)
c.872G>A (p.Arg291His)
c.1378G>A (p.Ala460Thr)
n.923G>A
 dbSNP gnomAD v2 gnomAD v4
20g.761059G>ACA509341299SLC52A3c.*591C>T (n.*591C>T)
c.871C>T (p.Arg291Cys)
c.1377C>T (p.Ser459=)
n.922C>T
 gnomAD v4
20g.761059G>CCA509341300SLC52A3c.*591C>G (n.*591C>G)
c.871C>G (p.Arg291Gly)
c.1377C>G (p.Ser459=)
n.922C>G
20g.761059G>TCA509341301SLC52A3c.*591C>A (n.*591C>A)
c.871C>A (p.Arg291Ser)
c.1377C>A (p.Ser459=)
n.922C>A
20g.761060G>ACA407961779SLC52A3c.*590C>T (n.*590C>T)
c.870C>T (p.Val290=)
c.1376C>T (p.Ser459Phe)
n.921C>T
 gnomAD v4
20g.761060G>CCA407961777SLC52A3c.*590C>G (n.*590C>G)
c.870C>G (p.Val290=)
c.1376C>G (p.Ser459Cys)
n.921C>G
20g.761060G>TCA407961778SLC52A3c.*590C>A (n.*590C>A)
c.870C>A (p.Val290=)
c.1376C>A (p.Ser459Tyr)
n.921C>A
20g.761062_761066delCA2651546437SLC52A3c.*586_*590del (n.*586_*590del)
c.866_870del (p.Leu289ProfsTer?)
c.1372_1376del (p.Ser458ArgfsTer?)
n.917_921del
 gnomAD v4
20g.761061A=CA2345348067SLC52A3c.*589T= (n.*589T=)
c.869T= (p.Val290=)
c.1375T= (p.Ser459=)
n.920T=
20g.761061A>CCA407961780SLC52A3c.*589T>G (n.*589T>G)
c.869T>G (p.Val290Gly)
c.1375T>G (p.Ser459Ala)
n.920T>G
 gnomAD v4
20g.761061A>GCA9724507SLC52A3c.*589T>C (n.*589T>C)
c.869T>C (p.Val290Ala)
c.1375T>C (p.Ser459Pro)
n.920T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761061A>TCA407961781SLC52A3c.*589T>A (n.*589T>A)
c.869T>A (p.Val290Asp)
c.1375T>A (p.Ser459Thr)
n.920T>A
 gnomAD v4
20g.761062C>ACA9724508SLC52A3c.*588G>T (n.*588G>T)
c.868G>T (p.Val290Phe)
c.1374G>T (p.Ser458=)
n.919G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761062C=CA2345348068SLC52A3c.*588G= (n.*588G=)
c.868G= (p.Val290=)
c.1374G= (p.Ser458=)
n.919G=
20g.761062C>GCA509341302SLC52A3c.*588G>C (n.*588G>C)
c.868G>C (p.Val290Leu)
c.1374G>C (p.Ser458=)
n.919G>C
20g.761062C>TCA9724509SLC52A3c.*588G>A (n.*588G>A)
c.868G>A (p.Val290Ile)
c.1374G>A (p.Ser458=)
n.919G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.761063G>ACA407961782SLC52A3c.*587C>T (n.*587C>T)
c.867C>T (p.Leu289=)
c.1373C>T (p.Ser458Leu)
n.918C>T
 gnomAD v4 COSMIC
20g.761063G>CCA407961783SLC52A3c.*587C>G (n.*587C>G)
c.867C>G (p.Leu289=)
c.1373C>G (p.Ser458Trp)
n.918C>G
20g.761063G=CA2345348069SLC52A3c.*587C= (n.*587C=)
c.867C= (p.Leu289=)
c.1373C= (p.Ser458=)
n.918C=
20g.761063G>TCA9724510SLC52A3c.*587C>A (n.*587C>A)
c.867C>A (p.Leu289=)
c.1373C>A (p.Ser458Ter)
n.918C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761064A=CA2345348070SLC52A3c.*586T= (n.*586T=)
c.866T= (p.Leu289=)
c.1372T= (p.Ser458=)
n.917T=
20g.761064A>CCA407961784SLC52A3c.*586T>G (n.*586T>G)
c.866T>G (p.Leu289Arg)
c.1372T>G (p.Ser458Ala)
n.917T>G
 ClinVar gnomAD v4
20g.761064A>GCA407961785SLC52A3c.*586T>C (n.*586T>C)
c.866T>C (p.Leu289Pro)
c.1372T>C (p.Ser458Pro)
n.917T>C
 dbSNP gnomAD v3 gnomAD v4
20g.761064A>TCA407961786SLC52A3c.*586T>A (n.*586T>A)
c.866T>A (p.Leu289His)
c.1372T>A (p.Ser458Thr)
n.917T>A
20g.761065G>ACA509341303SLC52A3c.*585C>T (n.*585C>T)
c.865C>T (p.Leu289Phe)
c.1371C>T (p.Phe457=)
n.916C>T
20g.761065G>CCA346996SLC52A3c.*585C>G (n.*585C>G)
c.865C>G (p.Leu289Val)
c.1371C>G (p.Phe457Leu)
n.916C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761065G=CA2345348071SLC52A3c.*585C= (n.*585C=)
c.865C= (p.Leu289=)
c.1371C= (p.Phe457=)
n.916C=
20g.761065G>TCA407961787SLC52A3c.*585C>A (n.*585C>A)
c.865C>A (p.Leu289Ile)
c.1371C>A (p.Phe457Leu)
n.916C>A
 gnomAD v4
20g.761066A>CCA407961788SLC52A3c.*584T>G (n.*584T>G)
c.864T>G (p.Leu288=)
c.1370T>G (p.Phe457Cys)
n.915T>G
20g.761066A>GCA407961789SLC52A3c.*584T>C (n.*584T>C)
c.864T>C (p.Leu288=)
c.1370T>C (p.Phe457Ser)
n.915T>C
20g.761066A>TCA407961790SLC52A3c.*584T>A (n.*584T>A)
c.864T>A (p.Leu288=)
c.1370T>A (p.Phe457Tyr)
n.915T>A
20g.761067A=CA2345348072SLC52A3c.*583T= (n.*583T=)
c.863T= (p.Leu288=)
c.1369T= (p.Phe457=)
n.914T=
20g.761067A>CCA407961791SLC52A3c.*583T>G (n.*583T>G)
c.863T>G (p.Leu288Arg)
c.1369T>G (p.Phe457Val)
n.914T>G
20g.761067A>GCA9724511SLC52A3c.*583T>C (n.*583T>C)
c.863T>C (p.Leu288Pro)
c.1369T>C (p.Phe457Leu)
n.914T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761067A>TCA407961792SLC52A3c.*583T>A (n.*583T>A)
c.863T>A (p.Leu288His)
c.1369T>A (p.Phe457Ile)
n.914T>A
20g.761068G>ACA509341304SLC52A3c.*582C>T (n.*582C>T)
c.862C>T (p.Leu288Phe)
c.1368C>T (p.Leu456=)
n.913C>T
 ClinVar dbSNP gnomAD v4
20g.761068G>CCA509341305SLC52A3c.*582C>G (n.*582C>G)
c.862C>G (p.Leu288Val)
c.1368C>G (p.Leu456=)
n.913C>G
20g.761068G=CA2345348073SLC52A3c.*582C= (n.*582C=)
c.862C= (p.Leu288=)
c.1368C= (p.Leu456=)
n.913C=
20g.761068G>TCA509341306SLC52A3c.*582C>A (n.*582C>A)
c.862C>A (p.Leu288Ile)
c.1368C>A (p.Leu456=)
n.913C>A
20g.761069A>CCA407961795SLC52A3c.*581T>G (n.*581T>G)
c.861T>G (p.Ala287=)
c.1367T>G (p.Leu456Arg)
n.912T>G
20g.761069A>GCA407961794SLC52A3c.*581T>C (n.*581T>C)
c.861T>C (p.Ala287=)
c.1367T>C (p.Leu456Pro)
n.912T>C
20g.761069A>TCA407961793SLC52A3c.*581T>A (n.*581T>A)
c.861T>A (p.Ala287=)
c.1367T>A (p.Leu456His)
n.912T>A
20g.761070G>ACA407961796SLC52A3c.*580C>T (n.*580C>T)
c.860C>T (p.Ala287Val)
c.1366C>T (p.Leu456Phe)
n.911C>T
 gnomAD v4
20g.761070G>CCA407961798SLC52A3c.*580C>G (n.*580C>G)
c.860C>G (p.Ala287Gly)
c.1366C>G (p.Leu456Val)
n.911C>G
20g.761070G>TCA407961797SLC52A3c.*580C>A (n.*580C>A)
c.860C>A (p.Ala287Asp)
c.1366C>A (p.Leu456Ile)
n.911C>A
 gnomAD v4
20g.761071C>ACA509341307SLC52A3c.*579G>T (n.*579G>T)
c.859G>T (p.Ala287Ser)
c.1365G>T (p.Arg455=)
n.910G>T
20g.761071C>GCA509341308SLC52A3c.*579G>C (n.*579G>C)
c.859G>C (p.Ala287Pro)
c.1365G>C (p.Arg455=)
n.910G>C
20g.761071C>TCA509341309SLC52A3c.*579G>A (n.*579G>A)
c.859G>A (p.Ala287Thr)
c.1365G>A (p.Arg455=)
n.910G>A
 gnomAD v4
20g.761072C>ACA407961799SLC52A3c.*578G>T (n.*578G>T)
c.858G>T (p.Ala286=)
c.1364G>T (p.Arg455Leu)
n.909G>T
 gnomAD v4
20g.761072C=CA2345348074SLC52A3c.*578G= (n.*578G=)
c.858G= (p.Ala286=)
c.1364G= (p.Arg455=)
n.909G=
20g.761072C>GCA9724512SLC52A3c.*578G>C (n.*578G>C)
c.858G>C (p.Ala286=)
c.1364G>C (p.Arg455Pro)
n.909G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761072C>TCA310673999SLC52A3c.*578G>A (n.*578G>A)
c.858G>A (p.Ala286=)
c.1364G>A (p.Arg455Gln)
n.909G>A
 dbSNP gnomAD v4
20g.761073G>ACA310674010SLC52A3c.*577C>T (n.*577C>T)
c.857C>T (p.Ala286Val)
c.1363C>T (p.Arg455Trp)
n.908C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761073G>CCA407961800SLC52A3c.*577C>G (n.*577C>G)
c.857C>G (p.Ala286Gly)
c.1363C>G (p.Arg455Gly)
n.908C>G
20g.761073G=CA2345348075SLC52A3c.*577C= (n.*577C=)
c.857C= (p.Ala286=)
c.1363C= (p.Arg455=)
n.908C=
20g.761073G>TCA509341310SLC52A3c.*577C>A (n.*577C>A)
c.857C>A (p.Ala286Glu)
c.1363C>A (p.Arg455=)
n.908C>A
20g.761074C>ACA509341311SLC52A3c.*576G>T (n.*576G>T)
c.856G>T (p.Ala286Ser)
c.1362G>T (p.Leu454=)
n.907G>T
20g.761074C=CA2345348076SLC52A3c.*576G= (n.*576G=)
c.856G= (p.Ala286=)
c.1362G= (p.Leu454=)
n.907G=
20g.761074C>GCA509341312SLC52A3c.*576G>C (n.*576G>C)
c.856G>C (p.Ala286Pro)
c.1362G>C (p.Leu454=)
n.907G>C
20g.761074C>TCA509341313SLC52A3c.*576G>A (n.*576G>A)
c.856G>A (p.Ala286Thr)
c.1362G>A (p.Leu454=)
n.907G>A
 dbSNP gnomAD v3 gnomAD v4
20g.761075A>CCA407961801SLC52A3c.*575T>G (n.*575T>G)
c.855T>G (p.Ala285=)
c.1361T>G (p.Leu454Arg)
n.906T>G
 gnomAD v4
20g.761075A>GCA407961802SLC52A3c.*575T>C (n.*575T>C)
c.855T>C (p.Ala285=)
c.1361T>C (p.Leu454Pro)
n.906T>C
20g.761075A>TCA407961803SLC52A3c.*575T>A (n.*575T>A)
c.855T>A (p.Ala285=)
c.1361T>A (p.Leu454Gln)
n.906T>A
20g.761076G>ACA509341314SLC52A3c.*574C>T (n.*574C>T)
c.854C>T (p.Ala285Val)
c.1360C>T (p.Leu454=)
n.905C>T
20g.761076G>CCA407961804SLC52A3c.*574C>G (n.*574C>G)
c.854C>G (p.Ala285Gly)
c.1360C>G (p.Leu454Val)
n.905C>G
20g.761076G>TCA407961805SLC52A3c.*574C>A (n.*574C>A)
c.854C>A (p.Ala285Asp)
c.1360C>A (p.Leu454Met)
n.905C>A
20g.761077C>ACA509341315SLC52A3c.*573G>T (n.*573G>T)
c.853G>T (p.Ala285Ser)
c.1359G>T (p.Val453=)
n.904G>T
20g.761077C=CA2345348077SLC52A3c.*573G= (n.*573G=)
c.853G= (p.Ala285=)
c.1359G= (p.Val453=)
n.904G=
20g.761077C>GCA509341316SLC52A3c.*573G>C (n.*573G>C)
c.853G>C (p.Ala285Pro)
c.1359G>C (p.Val453=)
n.904G>C
20g.761077C>TCA9724513SLC52A3c.*573G>A (n.*573G>A)
c.853G>A (p.Ala285Thr)
c.1359G>A (p.Val453=)
n.904G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761078A>CCA407961806SLC52A3c.*572T>G (n.*572T>G)
c.852T>G (p.Arg284=)
c.1358T>G (p.Val453Gly)
n.903T>G
20g.761078A>GCA407961807SLC52A3c.*572T>C (n.*572T>C)
c.852T>C (p.Arg284=)
c.1358T>C (p.Val453Ala)
n.903T>C
20g.761078A>TCA407961808SLC52A3c.*572T>A (n.*572T>A)
c.852T>A (p.Arg284=)
c.1358T>A (p.Val453Glu)
n.903T>A
20g.761079C>ACA407961811SLC52A3c.*571G>T (n.*571G>T)
c.851G>T (p.Arg284Leu)
c.1357G>T (p.Val453Leu)
n.902G>T
20g.761079C=CA2345348078SLC52A3c.*571G= (n.*571G=)
c.851G= (p.Arg284=)
c.1357G= (p.Val453=)
n.902G=
20g.761079C>GCA407961810SLC52A3c.*571G>C (n.*571G>C)
c.851G>C (p.Arg284Pro)
c.1357G>C (p.Val453Leu)
n.902G>C
 dbSNP
20g.761079C>TCA407961809SLC52A3c.*571G>A (n.*571G>A)
c.851G>A (p.Arg284His)
c.1357G>A (p.Val453Met)
n.902G>A
20g.761080G>ACA509341317SLC52A3c.*570C>T (n.*570C>T)
c.850C>T (p.Arg284Cys)
c.1356C>T (p.Asn452=)
n.901C>T
 dbSNP gnomAD v2 COSMIC
20g.761080G>CCA407961812SLC52A3c.*570C>G (n.*570C>G)
c.850C>G (p.Arg284Gly)
c.1356C>G (p.Asn452Lys)
n.901C>G
 gnomAD v4
20g.761080G=CA2345348079SLC52A3c.*570C= (n.*570C=)
c.850C= (p.Arg284=)
c.1356C= (p.Asn452=)
n.901C=
20g.761080G>TCA9724514SLC52A3c.*570C>A (n.*570C>A)
c.850C>A (p.Arg284Ser)
c.1356C>A (p.Asn452Lys)
n.901C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761081T>ACA407961813SLC52A3c.*569A>T (n.*569A>T)
c.849A>T (p.Gln283His)
c.1355A>T (p.Asn452Ile)
n.900A>T
20g.761081T>CCA407961814SLC52A3c.*569A>G (n.*569A>G)
c.849A>G (p.Gln283=)
c.1355A>G (p.Asn452Ser)
n.900A>G
 gnomAD v4
20g.761081T>GCA407961815SLC52A3c.*569A>C (n.*569A>C)
c.849A>C (p.Gln283His)
c.1355A>C (p.Asn452Thr)
n.900A>C
20g.761082dupCA2651546438SLC52A3c.*569dup (n.*569dup)
c.849dup (p.Arg284ThrfsTer?)
c.1355dup (p.Asn452LysfsTer?)
n.900dup
 gnomAD v4
20g.761082T>ACA407961816SLC52A3c.*568A>T (n.*568A>T)
c.848A>T (p.Gln283Leu)
c.1354A>T (p.Asn452Tyr)
n.899A>T
20g.761082T>CCA407961817SLC52A3c.*568A>G (n.*568A>G)
c.848A>G (p.Gln283Arg)
c.1354A>G (p.Asn452Asp)
n.899A>G
20g.761082T>GCA407961818SLC52A3c.*568A>C (n.*568A>C)
c.848A>C (p.Gln283Pro)
c.1354A>C (p.Asn452His)
n.899A>C
20g.761083G>ACA509341318SLC52A3c.*567C>T (n.*567C>T)
c.847C>T (p.Gln283Ter)
c.1353C>T (p.Val451=)
n.898C>T
 gnomAD v4
20g.761083G>CCA509341320SLC52A3c.*567C>G (n.*567C>G)
c.847C>G (p.Gln283Glu)
c.1353C>G (p.Val451=)
n.898C>G
 ClinVar dbSNP
20g.761083G>TCA509341319SLC52A3c.*567C>A (n.*567C>A)
c.847C>A (p.Gln283Lys)
c.1353C>A (p.Val451=)
n.898C>A
 gnomAD v4
20g.761084A>CCA407961819SLC52A3c.*566T>G (n.*566T>G)
c.846T>G (p.Gly282=)
c.1352T>G (p.Val451Gly)
n.897T>G
20g.761084A>GCA407961820SLC52A3c.*566T>C (n.*566T>C)
c.846T>C (p.Gly282=)
c.1352T>C (p.Val451Ala)
n.897T>C
20g.761084A>TCA407961821SLC52A3c.*566T>A (n.*566T>A)
c.846T>A (p.Gly282=)
c.1352T>A (p.Val451Asp)
n.897T>A
20g.761085C>ACA407961824SLC52A3c.*565G>T (n.*565G>T)
c.845G>T (p.Gly282Val)
c.1351G>T (p.Val451Phe)
n.896G>T
 dbSNP gnomAD v2 gnomAD v4
20g.761085C=CA2345348080SLC52A3c.*565G= (n.*565G=)
c.845G= (p.Gly282=)
c.1351G= (p.Val451=)
n.896G=
20g.761085C>GCA407961823SLC52A3c.*565G>C (n.*565G>C)
c.845G>C (p.Gly282Ala)
c.1351G>C (p.Val451Leu)
n.896G>C
20g.761085C>TCA407961822SLC52A3c.*565G>A (n.*565G>A)
c.845G>A (p.Gly282Asp)
c.1351G>A (p.Val451Ile)
n.896G>A
 gnomAD v4
20g.761086C>ACA509341321SLC52A3c.*564G>T (n.*564G>T)
c.844G>T (p.Gly282Cys)
c.1350G>T (p.Leu450=)
n.895G>T
20g.761086C>GCA509341322SLC52A3c.*564G>C (n.*564G>C)
c.844G>C (p.Gly282Arg)
c.1350G>C (p.Leu450=)
n.895G>C
20g.761086C>TCA509341323SLC52A3c.*564G>A (n.*564G>A)
c.844G>A (p.Gly282Ser)
c.1350G>A (p.Leu450=)
n.895G>A
20g.761087A=CA2345348081SLC52A3c.*563T= (n.*563T=)
c.843T= (p.Ser281=)
c.1349T= (p.Leu450=)
n.894T=
20g.761087A>CCA407961825SLC52A3c.*563T>G (n.*563T>G)
c.843T>G (p.Ser281=)
c.1349T>G (p.Leu450Arg)
n.894T>G
20g.761087A>GCA407961826SLC52A3c.*563T>C (n.*563T>C)
c.843T>C (p.Ser281=)
c.1349T>C (p.Leu450Pro)
n.894T>C
 dbSNP gnomAD v2
20g.761087A>TCA407961827SLC52A3c.*563T>A (n.*563T>A)
c.843T>A (p.Ser281=)
c.1349T>A (p.Leu450Gln)
n.894T>A
20g.761088G>ACA509341324SLC52A3c.*562C>T (n.*562C>T)
c.842C>T (p.Ser281Phe)
c.1348C>T (p.Leu450=)
n.893C>T
 gnomAD v4
20g.761088G>CCA9724515SLC52A3c.*562C>G (n.*562C>G)
c.842C>G (p.Ser281Cys)
c.1348C>G (p.Leu450Val)
n.893C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761088G=CA2345348082SLC52A3c.*562C= (n.*562C=)
c.842C= (p.Ser281=)
c.1348C= (p.Leu450=)
n.893C=
20g.761088G>TCA407961828SLC52A3c.*562C>A (n.*562C>A)
c.842C>A (p.Ser281Tyr)
c.1348C>A (p.Leu450Met)
n.893C>A
20g.761089A>CCA509341325SLC52A3c.*561T>G (n.*561T>G)
c.841T>G (p.Ser281Ala)
c.1347T>G (p.Pro449=)
n.892T>G
20g.761089A>GCA509341326SLC52A3c.*561T>C (n.*561T>C)
c.841T>C (p.Ser281Pro)
c.1347T>C (p.Pro449=)
n.892T>C
20g.761089A>TCA509341327SLC52A3c.*561T>A (n.*561T>A)
c.841T>A (p.Ser281Thr)
c.1347T>A (p.Pro449=)
n.892T>A
20g.761090G>ACA407961829SLC52A3c.*560C>T (n.*560C>T)
c.840C>T (p.Pro280=)
c.1346C>T (p.Pro449Leu)
n.891C>T
 dbSNP gnomAD v4
20g.761090G>CCA407961830SLC52A3c.*560C>G (n.*560C>G)
c.840C>G (p.Pro280=)
c.1346C>G (p.Pro449Arg)
n.891C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.761090G=CA2345348083SLC52A3c.*560C= (n.*560C=)
c.840C= (p.Pro280=)
c.1346C= (p.Pro449=)
n.891C=
20g.761090G>TCA407961831SLC52A3c.*560C>A (n.*560C>A)
c.840C>A (p.Pro280=)
c.1346C>A (p.Pro449His)
n.891C>A
 gnomAD v4
20g.761091G>ACA407961832SLC52A3c.*559C>T (n.*559C>T)
c.839C>T (p.Pro280Leu)
c.1345C>T (p.Pro449Ser)
n.890C>T
20g.761091G>CCA407961833SLC52A3c.*559C>G (n.*559C>G)
c.839C>G (p.Pro280Arg)
c.1345C>G (p.Pro449Ala)
n.890C>G
20g.761091G>TCA407961834SLC52A3c.*559C>A (n.*559C>A)
c.839C>A (p.Pro280His)
c.1345C>A (p.Pro449Thr)
n.890C>A
 gnomAD v4
20g.761092G>ACA509341328SLC52A3c.*558C>T (n.*558C>T)
c.838C>T (p.Pro280Ser)
c.1344C>T (p.Phe448=)
n.889C>T
20g.761092G>CCA407961835SLC52A3c.*558C>G (n.*558C>G)
c.838C>G (p.Pro280Ala)
c.1344C>G (p.Phe448Leu)
n.889C>G
 gnomAD v4
20g.761092G>TCA407961836SLC52A3c.*558C>A (n.*558C>A)
c.838C>A (p.Pro280Thr)
c.1344C>A (p.Phe448Leu)
n.889C>A
20g.761093A>CCA407961839SLC52A3c.*557T>G (n.*557T>G)
c.837T>G (p.Val279=)
c.1343T>G (p.Phe448Cys)
n.888T>G
20g.761093A>GCA407961837SLC52A3c.*557T>C (n.*557T>C)
c.837T>C (p.Val279=)
c.1343T>C (p.Phe448Ser)
n.888T>C
20g.761093A>TCA407961838SLC52A3c.*557T>A (n.*557T>A)
c.837T>A (p.Val279=)
c.1343T>A (p.Phe448Tyr)
n.888T>A
20g.761094A>CCA407961840SLC52A3c.*556T>G (n.*556T>G)
c.836T>G (p.Val279Gly)
c.1342T>G (p.Phe448Val)
n.887T>G
20g.761094A>GCA407961841SLC52A3c.*556T>C (n.*556T>C)
c.836T>C (p.Val279Ala)
c.1342T>C (p.Phe448Leu)
n.887T>C
20g.761094A>TCA407961842SLC52A3c.*556T>A (n.*556T>A)
c.836T>A (p.Val279Asp)
c.1342T>A (p.Phe448Ile)
n.887T>A
20g.761095C>ACA407961843SLC52A3c.*555G>T (n.*555G>T)
c.835G>T (p.Val279Phe)
c.1341G>T (p.Met447Ile)
n.886G>T
 COSMIC
20g.761095C>GCA407961844SLC52A3c.*555G>C (n.*555G>C)
c.835G>C (p.Val279Leu)
c.1341G>C (p.Met447Ile)
n.886G>C
20g.761095C>TCA407961845SLC52A3c.*555G>A (n.*555G>A)
c.835G>A (p.Val279Ile)
c.1341G>A (p.Met447Ile)
n.886G>A
20g.761096A=CA2345348084SLC52A3c.*554T= (n.*554T=)
c.834T= (p.His278=)
c.1340T= (p.Met447=)
n.885T=
20g.761096A>CCA407961846SLC52A3c.*554T>G (n.*554T>G)
c.834T>G (p.His278Gln)
c.1340T>G (p.Met447Arg)
n.885T>G
20g.761096A>GCA407961847SLC52A3c.*554T>C (n.*554T>C)
c.834T>C (p.His278=)
c.1340T>C (p.Met447Thr)
n.885T>C
 ClinVar dbSNP gnomAD v4
20g.761096A>TCA407961848SLC52A3c.*554T>A (n.*554T>A)
c.834T>A (p.His278Gln)
c.1340T>A (p.Met447Lys)
n.885T>A
20g.761097T>ACA407961849SLC52A3c.*553A>T (n.*553A>T)
c.833A>T (p.His278Leu)
c.1339A>T (p.Met447Leu)
n.884A>T
 dbSNP gnomAD v2 gnomAD v4
20g.761097T>CCA9724516SLC52A3c.*553A>G (n.*553A>G)
c.833A>G (p.His278Arg)
c.1339A>G (p.Met447Val)
n.884A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761097T>GCA310674024SLC52A3c.*553A>C (n.*553A>C)
c.833A>C (p.His278Pro)
c.1339A>C (p.Met447Leu)
n.884A>C
 dbSNP gnomAD v3 gnomAD v4
20g.761097T=CA2345348085SLC52A3c.*553A= (n.*553A=)
c.833A= (p.His278=)
c.1339A= (p.Met447=)
n.884A=
20g.761097dupCA1014677391SLC52A3c.*553dup (n.*553dup)
c.833dup (p.His278GlnfsTer?)
c.1339dup (p.Met447AsnfsTer?)
n.884dup
 dbSNP gnomAD v3 gnomAD v4
20g.761097_761109delinsTGAGCAGCGCTCCCA2345348086SLC52A3c.*541_*553delinsGGAGCGCTGCTCA (n.*541_*553delinsGGAGCGCTGCTCA)
c.821_833delinsGGAGCGCTGCTCA (p.Arg274=)
c.1327_1339delinsGGAGCGCTGCTCA (p.Gly443=)
n.872_884delinsGGAGCGCTGCTCA
20g.761098G>ACA509341329SLC52A3c.*552C>T (n.*552C>T)
c.832C>T (p.His278Tyr)
c.1338C>T (p.Leu446=)
n.883C>T
 gnomAD v4
20g.761098G>CCA509341331SLC52A3c.*552C>G (n.*552C>G)
c.832C>G (p.His278Asp)
c.1338C>G (p.Leu446=)
n.883C>G
20g.761098G>TCA509341330SLC52A3c.*552C>A (n.*552C>A)
c.832C>A (p.His278Asn)
c.1338C>A (p.Leu446=)
n.883C>A
 gnomAD v4
20g.761106_761117dupCA1139666615SLC52A3c.*541_*552dup (n.*541_*552dup)
c.821_832dup (p.Ala277_His278insArgSerAlaAla)
c.1327_1338dup (p.Leu446_Met447insGlyAlaLeuLeu)
n.872_883dup
 ClinVar dbSNP gnomAD v4
20g.761106_761117delCA746663490SLC52A3c.*541_*552del (n.*541_*552del)
c.821_832del (p.Arg274_Ala277del)
c.1327_1338del (p.Gly443_Leu446del)
n.872_883del
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.761099A=CA2345348087SLC52A3c.*551T= (n.*551T=)
c.831T= (p.Ala277=)
c.1337T= (p.Leu446=)
n.882T=
20g.761099A>CCA407961851SLC52A3c.*551T>G (n.*551T>G)
c.831T>G (p.Ala277=)
c.1337T>G (p.Leu446Arg)
n.882T>G
20g.761099A>GCA9724517SLC52A3c.*551T>C (n.*551T>C)
c.831T>C (p.Ala277=)
c.1337T>C (p.Leu446Pro)
n.882T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761099A>TCA407961850SLC52A3c.*551T>A (n.*551T>A)
c.831T>A (p.Ala277=)
c.1337T>A (p.Leu446His)
n.882T>A
20g.761100G>ACA407961853SLC52A3c.*550C>T (n.*550C>T)
c.830C>T (p.Ala277Val)
c.1336C>T (p.Leu446Phe)
n.881C>T
 ClinVar dbSNP gnomAD v4
20g.761100G>CCA407961852SLC52A3c.*550C>G (n.*550C>G)
c.830C>G (p.Ala277Gly)
c.1336C>G (p.Leu446Val)
n.881C>G
20g.761100G=CA2345348088SLC52A3c.*550C= (n.*550C=)
c.830C= (p.Ala277=)
c.1336C= (p.Leu446=)
n.881C=
20g.761100G>TCA407961854SLC52A3c.*550C>A (n.*550C>A)
c.830C>A (p.Ala277Asp)
c.1336C>A (p.Leu446Ile)
n.881C>A
 gnomAD v4
20g.761101C>ACA509341332SLC52A3c.*549G>T (n.*549G>T)
c.829G>T (p.Ala277Ser)
c.1335G>T (p.Leu445=)
n.880G>T
20g.761101C>GCA509341333SLC52A3c.*549G>C (n.*549G>C)
c.829G>C (p.Ala277Pro)
c.1335G>C (p.Leu445=)
n.880G>C
20g.761101C>TCA509341334SLC52A3c.*549G>A (n.*549G>A)
c.829G>A (p.Ala277Thr)
c.1335G>A (p.Leu445=)
n.880G>A
20g.761102A=CA2345348089SLC52A3c.*548T= (n.*548T=)
c.828T= (p.Ala276=)
c.1334T= (p.Leu445=)
n.879T=
20g.761102A>CCA9724518SLC52A3c.*548T>G (n.*548T>G)
c.828T>G (p.Ala276=)
c.1334T>G (p.Leu445Arg)
n.879T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.761102A>GCA407961855SLC52A3c.*548T>C (n.*548T>C)
c.828T>C (p.Ala276=)
c.1334T>C (p.Leu445Pro)
n.879T>C
 ClinVar dbSNP gnomAD v4
20g.761102A>TCA407961856SLC52A3c.*548T>A (n.*548T>A)
c.828T>A (p.Ala276=)
c.1334T>A (p.Leu445Gln)
n.879T>A
20g.761103G>ACA509341335SLC52A3c.*547C>T (n.*547C>T)
c.827C>T (p.Ala276Val)
c.1333C>T (p.Leu445=)
n.878C>T
20g.761103G>CCA407961857SLC52A3c.*547C>G (n.*547C>G)
c.827C>G (p.Ala276Gly)
c.1333C>G (p.Leu445Val)
n.878C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761103G=CA2345348090SLC52A3c.*547C= (n.*547C=)
c.827C= (p.Ala276=)
c.1333C= (p.Leu445=)
n.878C=
20g.761103G>TCA407961858SLC52A3c.*547C>A (n.*547C>A)
c.827C>A (p.Ala276Asp)
c.1333C>A (p.Leu445Met)
n.878C>A
 COSMIC
20g.761104C>ACA509341336SLC52A3c.*546G>T (n.*546G>T)
c.826G>T (p.Ala276Ser)
c.1332G>T (p.Ala444=)
n.877G>T
20g.761104C>GCA509341337SLC52A3c.*546G>C (n.*546G>C)
c.826G>C (p.Ala276Pro)
c.1332G>C (p.Ala444=)
n.877G>C
20g.761104C>TCA509341338SLC52A3c.*546G>A (n.*546G>A)
c.826G>A (p.Ala276Thr)
c.1332G>A (p.Ala444=)
n.877G>A
 dbSNP
20g.761105G>ACA9724519SLC52A3c.*545C>T (n.*545C>T)
c.825C>T (p.Ser275=)
c.1331C>T (p.Ala444Val)
n.876C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761105G>CCA407961860SLC52A3c.*545C>G (n.*545C>G)
c.825C>G (p.Ser275Arg)
c.1331C>G (p.Ala444Gly)
n.876C>G
20g.761105G=CA2345348091SLC52A3c.*545C= (n.*545C=)
c.825C= (p.Ser275=)
c.1331C= (p.Ala444=)
n.876C=
20g.761105G>TCA407961859SLC52A3c.*545C>A (n.*545C>A)
c.825C>A (p.Ser275Arg)
c.1331C>A (p.Ala444Glu)
n.876C>A
20g.761106C>ACA407961861SLC52A3c.*544G>T (n.*544G>T)
c.824G>T (p.Ser275Ile)
c.1330G>T (p.Ala444Ser)
n.875G>T
20g.761106C=CA2345348092SLC52A3c.*544G= (n.*544G=)
c.824G= (p.Ser275=)
c.1330G= (p.Ala444=)
n.875G=
20g.761106C>GCA407961862SLC52A3c.*544G>C (n.*544G>C)
c.824G>C (p.Ser275Thr)
c.1330G>C (p.Ala444Pro)
n.875G>C
20g.761106C>TCA407961863SLC52A3c.*544G>A (n.*544G>A)
c.824G>A (p.Ser275Asn)
c.1330G>A (p.Ala444Thr)
n.875G>A
 dbSNP
20g.761107T>ACA509341339SLC52A3c.*543A>T (n.*543A>T)
c.823A>T (p.Ser275Cys)
c.1329A>T (p.Gly443=)
n.874A>T
20g.761107T>CCA509341340SLC52A3c.*543A>G (n.*543A>G)
c.823A>G (p.Ser275Gly)
c.1329A>G (p.Gly443=)
n.874A>G
 ClinVar dbSNP gnomAD v4
20g.761107T>GCA509341341SLC52A3c.*543A>C (n.*543A>C)
c.823A>C (p.Ser275Arg)
c.1329A>C (p.Gly443=)
n.874A>C
20g.761107T=CA2345348093SLC52A3c.*543A= (n.*543A=)
c.823A= (p.Ser275=)
c.1329A= (p.Gly443=)
n.874A=
20g.761108C>ACA407961864SLC52A3c.*542G>T (n.*542G>T)
c.822G>T (p.Arg274=)
c.1328G>T (p.Gly443Val)
n.873G>T
20g.761108C>GCA407961865SLC52A3c.*542G>C (n.*542G>C)
c.822G>C (p.Arg274=)
c.1328G>C (p.Gly443Ala)
n.873G>C
20g.761108C>TCA407961866SLC52A3c.*542G>A (n.*542G>A)
c.822G>A (p.Arg274=)
c.1328G>A (p.Gly443Glu)
n.873G>A
20g.761109C>ACA407961867SLC52A3c.*541G>T (n.*541G>T)
c.821G>T (p.Arg274Leu)
c.1327G>T (p.Gly443Ter)
n.872G>T
20g.761109C>GCA407961869SLC52A3c.*541G>C (n.*541G>C)
c.821G>C (p.Arg274Pro)
c.1327G>C (p.Gly443Arg)
n.872G>C
 gnomAD v4
20g.761109C>TCA407961868SLC52A3c.*541G>A (n.*541G>A)
c.821G>A (p.Arg274Gln)
c.1327G>A (p.Gly443Arg)
n.872G>A
 gnomAD v4
20g.761109_761111delinsCGACA2345348094SLC52A3c.*539_*541delinsTCG (n.*539_*541delinsTCG)
c.819_821delinsTCG (p.Ala273=)
c.1325_1327delinsTCG (p.Leu442=)
n.870_872delinsTCG
20g.761110G>ACA509341342SLC52A3c.*540C>T (n.*540C>T)
c.820C>T (p.Arg274Trp)
c.1326C>T (p.Leu442=)
n.871C>T
20g.761110G>CCA9724520SLC52A3c.*540C>G (n.*540C>G)
c.820C>G (p.Arg274Gly)
c.1326C>G (p.Leu442=)
n.871C>G
 dbSNP ExAC gnomAD v4
20g.761110G=CA2345348095SLC52A3c.*540C= (n.*540C=)
c.820C= (p.Arg274=)
c.1326C= (p.Leu442=)
n.871C=
20g.761110G>TCA509341343SLC52A3c.*540C>A (n.*540C>A)
c.820C>A (p.Arg274=)
c.1326C>A (p.Leu442=)
n.871C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.761111_761112delCA113912SLC52A3c.*539_*540del (n.*539_*540del)
c.819_820del (p.Arg274GlufsTer?)
c.1325_1326del (p.Leu442ArgfsTer?)
n.870_871del
 ClinVar dbSNP
20g.761111A>CCA407961870SLC52A3c.*539T>G (n.*539T>G)
c.819T>G (p.Ala273=)
c.1325T>G (p.Leu442Arg)
n.870T>G
20g.761111A>GCA407961871SLC52A3c.*539T>C (n.*539T>C)
c.819T>C (p.Ala273=)
c.1325T>C (p.Leu442Pro)
n.870T>C
20g.761111A>TCA407961872SLC52A3c.*539T>A (n.*539T>A)
c.819T>A (p.Ala273=)
c.1325T>A (p.Leu442His)
n.870T>A
20g.761112G>ACA407961873SLC52A3c.*538C>T (n.*538C>T)
c.818C>T (p.Ala273Val)
c.1324C>T (p.Leu442Phe)
n.869C>T
 gnomAD v4
20g.761112G>CCA407961874SLC52A3c.*538C>G (n.*538C>G)
c.818C>G (p.Ala273Gly)
c.1324C>G (p.Leu442Val)
n.869C>G
20g.761112G>TCA407961875SLC52A3c.*538C>A (n.*538C>A)
c.818C>A (p.Ala273Asp)
c.1324C>A (p.Leu442Ile)
n.869C>A
 gnomAD v4
20g.761113C>ACA509341344SLC52A3c.*537G>T (n.*537G>T)
c.817G>T (p.Ala273Ser)
c.1323G>T (p.Leu441=)
n.868G>T
20g.761113C>GCA509341345SLC52A3c.*537G>C (n.*537G>C)
c.817G>C (p.Ala273Pro)
c.1323G>C (p.Leu441=)
n.868G>C
20g.761113C>TCA509341346SLC52A3c.*537G>A (n.*537G>A)
c.817G>A (p.Ala273Thr)
c.1323G>A (p.Leu441=)
n.868G>A
 gnomAD v4
20g.761114A=CA2345348096SLC52A3c.*536T= (n.*536T=)
c.816T= (p.Ala272=)
c.1322T= (p.Leu441=)
n.867T=
20g.761114A>CCA407961876SLC52A3c.*536T>G (n.*536T>G)
c.816T>G (p.Ala272=)
c.1322T>G (p.Leu441Arg)
n.867T>G
 gnomAD v4
20g.761114A>GCA407961877SLC52A3c.*536T>C (n.*536T>C)
c.816T>C (p.Ala272=)
c.1322T>C (p.Leu441Pro)
n.867T>C
 dbSNP gnomAD v2 gnomAD v4
20g.761114A>TCA407961878SLC52A3c.*536T>A (n.*536T>A)
c.816T>A (p.Ala272=)
c.1322T>A (p.Leu441Gln)
n.867T>A
 dbSNP gnomAD v3 gnomAD v4
20g.761115G>ACA509341347SLC52A3c.*535C>T (n.*535C>T)
c.815C>T (p.Ala272Val)
c.1321C>T (p.Leu441=)
n.866C>T
20g.761115G>CCA407961879SLC52A3c.*535C>G (n.*535C>G)
c.815C>G (p.Ala272Gly)
c.1321C>G (p.Leu441Val)
n.866C>G
20g.761115G>TCA407961880SLC52A3c.*535C>A (n.*535C>A)
c.815C>A (p.Ala272Asp)
c.1321C>A (p.Leu441Met)
n.866C>A
20g.761116C>ACA509341348SLC52A3c.*534G>T (n.*534G>T)
c.814G>T (p.Ala272Ser)
c.1320G>T (p.Ser440=)
n.865G>T
 dbSNP gnomAD v4
20g.761116C=CA2345348097SLC52A3c.*534G= (n.*534G=)
c.814G= (p.Ala272=)
c.1320G= (p.Ser440=)
n.865G=
20g.761116C>GCA509341349SLC52A3c.*534G>C (n.*534G>C)
c.814G>C (p.Ala272Pro)
c.1320G>C (p.Ser440=)
n.865G>C
20g.761116C>TCA9724521SLC52A3c.*534G>A (n.*534G>A)
c.814G>A (p.Ala272Thr)
c.1320G>A (p.Ser440=)
n.865G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761117G>ACA407961881SLC52A3c.*533C>T (n.*533C>T)
c.813C>T (p.Leu271=)
c.1319C>T (p.Ser440Leu)
n.864C>T
 gnomAD v4
20g.761117G>CCA407961882SLC52A3c.*533C>G (n.*533C>G)
c.813C>G (p.Leu271=)
c.1319C>G (p.Ser440Trp)
n.864C>G
 gnomAD v4
20g.761117G=CA2345348098SLC52A3c.*533C= (n.*533C=)
c.813C= (p.Leu271=)
c.1319C= (p.Ser440=)
n.864C=
20g.761117G>TCA407961883SLC52A3c.*533C>A (n.*533C>A)
c.813C>A (p.Leu271=)
c.1319C>A (p.Ser440Ter)
n.864C>A
 dbSNP gnomAD v4

Number of alleles fetched