Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
20g.761118A>CCA407961884SLC52A3c.*532T>G (n.*532T>G)
c.812T>G (p.Leu271Arg)
c.1318T>G (p.Ser440Ala)
n.863T>G
20g.761118A>GCA407961885SLC52A3c.*532T>C (n.*532T>C)
c.812T>C (p.Leu271Pro)
c.1318T>C (p.Ser440Pro)
n.863T>C
20g.761118A>TCA407961886SLC52A3c.*532T>A (n.*532T>A)
c.812T>A (p.Leu271His)
c.1318T>A (p.Ser440Thr)
n.863T>A
20g.761119G>ACA509341352SLC52A3c.*531C>T (n.*531C>T)
c.811C>T (p.Leu271Phe)
c.1317C>T (p.Gly439=)
n.862C>T
 dbSNP gnomAD v2 gnomAD v4
20g.761119G>CCA509341351SLC52A3c.*531C>G (n.*531C>G)
c.811C>G (p.Leu271Val)
c.1317C>G (p.Gly439=)
n.862C>G
20g.761119G=CA2345348099SLC52A3c.*531C= (n.*531C=)
c.811C= (p.Leu271=)
c.1317C= (p.Gly439=)
n.862C=
20g.761119G>TCA509341350SLC52A3c.*531C>A (n.*531C>A)
c.811C>A (p.Leu271Ile)
c.1317C>A (p.Gly439=)
n.862C>A
20g.761120C>ACA407961887SLC52A3c.*530G>T (n.*530G>T)
c.810G>T (p.Gly270=)
c.1316G>T (p.Gly439Val)
n.861G>T
20g.761120C=CA2345348100SLC52A3c.*530G= (n.*530G=)
c.810G= (p.Gly270=)
c.1316G= (p.Gly439=)
n.861G=
20g.761120C>GCA407961888SLC52A3c.*530G>C (n.*530G>C)
c.810G>C (p.Gly270=)
c.1316G>C (p.Gly439Ala)
n.861G>C
20g.761120C>TCA407961889SLC52A3c.*530G>A (n.*530G>A)
c.810G>A (p.Gly270=)
c.1316G>A (p.Gly439Asp)
n.861G>A
 ClinVar dbSNP
20g.761121C>ACA407961890SLC52A3c.*529G>T (n.*529G>T)
c.809G>T (p.Gly270Val)
c.1315G>T (p.Gly439Cys)
n.860G>T
 gnomAD v4
20g.761121C>GCA407961891SLC52A3c.*529G>C (n.*529G>C)
c.809G>C (p.Gly270Ala)
c.1315G>C (p.Gly439Arg)
n.860G>C
20g.761121C>TCA407961892SLC52A3c.*529G>A (n.*529G>A)
c.809G>A (p.Gly270Glu)
c.1315G>A (p.Gly439Ser)
n.860G>A
 gnomAD v4
20g.761122C>ACA509341355SLC52A3c.*528G>T (n.*528G>T)
c.808G>T (p.Gly270Trp)
c.1314G>T (p.Leu438=)
n.859G>T
20g.761122C=CA2345348101SLC52A3c.*528G= (n.*528G=)
c.808G= (p.Gly270=)
c.1314G= (p.Leu438=)
n.859G=
20g.761122C>GCA509341354SLC52A3c.*528G>C (n.*528G>C)
c.808G>C (p.Gly270Arg)
c.1314G>C (p.Leu438=)
n.859G>C
 dbSNP gnomAD v3 gnomAD v4
20g.761122C>TCA509341353SLC52A3c.*528G>A (n.*528G>A)
c.808G>A (p.Gly270Arg)
c.1314G>A (p.Leu438=)
n.859G>A
 dbSNP gnomAD v2
20g.761123A=CA2345348102SLC52A3c.*527T= (n.*527T=)
c.807T= (p.Ala269=)
c.1313T= (p.Leu438=)
n.858T=
20g.761123A>CCA407961895SLC52A3c.*527T>G (n.*527T>G)
c.807T>G (p.Ala269=)
c.1313T>G (p.Leu438Arg)
n.858T>G
20g.761123A>GCA407961893SLC52A3c.*527T>C (n.*527T>C)
c.807T>C (p.Ala269=)
c.1313T>C (p.Leu438Pro)
n.858T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.761123A>TCA407961894SLC52A3c.*527T>A (n.*527T>A)
c.807T>A (p.Ala269=)
c.1313T>A (p.Leu438Gln)
n.858T>A
20g.761124G>ACA509341356SLC52A3c.*526C>T (n.*526C>T)
c.806C>T (p.Ala269Val)
c.1312C>T (p.Leu438=)
n.857C>T
 gnomAD v4
20g.761124G>CCA407961896SLC52A3c.*526C>G (n.*526C>G)
c.806C>G (p.Ala269Gly)
c.1312C>G (p.Leu438Val)
n.857C>G
20g.761124G>TCA407961897SLC52A3c.*526C>A (n.*526C>A)
c.806C>A (p.Ala269Asp)
c.1312C>A (p.Leu438Met)
n.857C>A
20g.761125C>ACA407961898SLC52A3c.*525G>T (n.*525G>T)
c.805G>T (p.Ala269Ser)
c.1311G>T (p.Gln437His)
n.856G>T
 gnomAD v4
20g.761125C=CA2345348103SLC52A3c.*525G= (n.*525G=)
c.805G= (p.Ala269=)
c.1311G= (p.Gln437=)
n.856G=
20g.761125C>GCA407961899SLC52A3c.*525G>C (n.*525G>C)
c.805G>C (p.Ala269Pro)
c.1311G>C (p.Gln437His)
n.856G>C
 ClinVar dbSNP
20g.761125C>TCA509341357SLC52A3c.*525G>A (n.*525G>A)
c.805G>A (p.Ala269Thr)
c.1311G>A (p.Gln437=)
n.856G>A
 gnomAD v4
20g.761126T>ACA407961900SLC52A3c.*524A>T (n.*524A>T)
c.804A>T (p.Ala268=)
c.1310A>T (p.Gln437Leu)
n.855A>T

Number of alleles fetched