Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.761097_761109delinsTGAGCAGCGCTCCCA2345348086SLC52A3c.*541_*553delinsGGAGCGCTGCTCA (n.*541_*553delinsGGAGCGCTGCTCA)
c.821_833delinsGGAGCGCTGCTCA (p.Arg274=)
c.1327_1339delinsGGAGCGCTGCTCA (p.Gly443=)
n.872_884delinsGGAGCGCTGCTCA
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.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
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
20g.761126T>CCA407961901SLC52A3c.*524A>G (n.*524A>G)
c.804A>G (p.Ala268=)
c.1310A>G (p.Gln437Arg)
n.855A>G
 gnomAD v4
20g.761126T>GCA407961902SLC52A3c.*524A>C (n.*524A>C)
c.804A>C (p.Ala268=)
c.1310A>C (p.Gln437Pro)
n.855A>C
20g.761127G>ACA407961903SLC52A3c.*523C>T (n.*523C>T)
c.803C>T (p.Ala268Val)
c.1309C>T (p.Gln437Ter)
n.854C>T
 gnomAD v4
20g.761127G>CCA407961904SLC52A3c.*523C>G (n.*523C>G)
c.803C>G (p.Ala268Gly)
c.1309C>G (p.Gln437Glu)
n.854C>G
20g.761127G>TCA407961905SLC52A3c.*523C>A (n.*523C>A)
c.803C>A (p.Ala268Glu)
c.1309C>A (p.Gln437Lys)
n.854C>A
20g.761128C>ACA509341358SLC52A3c.*522G>T (n.*522G>T)
c.802G>T (p.Ala268Ser)
c.1308G>T (p.Val436=)
n.853G>T
20g.761128C>GCA509341359SLC52A3c.*522G>C (n.*522G>C)
c.802G>C (p.Ala268Pro)
c.1308G>C (p.Val436=)
n.853G>C
20g.761128C>TCA509341360SLC52A3c.*522G>A (n.*522G>A)
c.802G>A (p.Ala268Thr)
c.1308G>A (p.Val436=)
n.853G>A
 gnomAD v4
20g.761129A=CA2345348104SLC52A3c.*521T= (n.*521T=)
c.801T= (p.Gly267=)
c.1307T= (p.Val436=)
n.852T=
20g.761129A>CCA407961906SLC52A3c.*521T>G (n.*521T>G)
c.801T>G (p.Gly267=)
c.1307T>G (p.Val436Gly)
n.852T>G
20g.761129A>GCA9724522SLC52A3c.*521T>C (n.*521T>C)
c.801T>C (p.Gly267=)
c.1307T>C (p.Val436Ala)
n.852T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761129A>TCA407961907SLC52A3c.*521T>A (n.*521T>A)
c.801T>A (p.Gly267=)
c.1307T>A (p.Val436Glu)
n.852T>A
 dbSNP gnomAD v2
20g.761130C>ACA407961910SLC52A3c.*520G>T (n.*520G>T)
c.800G>T (p.Gly267Val)
c.1306G>T (p.Val436Leu)
n.851G>T
20g.761130C>GCA407961909SLC52A3c.*520G>C (n.*520G>C)
c.800G>C (p.Gly267Ala)
c.1306G>C (p.Val436Leu)
n.851G>C
20g.761130C>TCA407961908SLC52A3c.*520G>A (n.*520G>A)
c.800G>A (p.Gly267Asp)
c.1306G>A (p.Val436Met)
n.851G>A
 ClinVar dbSNP
20g.761131C>ACA509341361SLC52A3c.*519G>T (n.*519G>T)
c.799G>T (p.Gly267Cys)
c.1305G>T (p.Ala435=)
n.850G>T
 dbSNP gnomAD v4
20g.761131C=CA2345348105SLC52A3c.*519G= (n.*519G=)
c.799G= (p.Gly267=)
c.1305G= (p.Ala435=)
n.850G=
20g.761131C>GCA310674113SLC52A3c.*519G>C (n.*519G>C)
c.799G>C (p.Gly267Arg)
c.1305G>C (p.Ala435=)
n.850G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761131C>TCA509341362SLC52A3c.*519G>A (n.*519G>A)
c.799G>A (p.Gly267Ser)
c.1305G>A (p.Ala435=)
n.850G>A
 ClinVar dbSNP gnomAD v4
20g.761132G>ACA407961911SLC52A3c.*518C>T (n.*518C>T)
c.798C>T (p.Gly266=)
c.1304C>T (p.Ala435Val)
n.849C>T
 gnomAD v4
20g.761132G>CCA407961912SLC52A3c.*518C>G (n.*518C>G)
c.798C>G (p.Gly266=)
c.1304C>G (p.Ala435Gly)
n.849C>G
20g.761132G>TCA407961913SLC52A3c.*518C>A (n.*518C>A)
c.798C>A (p.Gly266=)
c.1304C>A (p.Ala435Glu)
n.849C>A
 gnomAD v4
20g.761133C>ACA407961914SLC52A3c.*517G>T (n.*517G>T)
c.797G>T (p.Gly266Val)
c.1303G>T (p.Ala435Ser)
n.848G>T
 gnomAD v4
20g.761133C>GCA407961915SLC52A3c.*517G>C (n.*517G>C)
c.797G>C (p.Gly266Ala)
c.1303G>C (p.Ala435Pro)
n.848G>C
20g.761133C>TCA407961916SLC52A3c.*517G>A (n.*517G>A)
c.797G>A (p.Gly266Asp)
c.1303G>A (p.Ala435Thr)
n.848G>A
 gnomAD v4
20g.761134C>ACA509341363SLC52A3c.*516G>T (n.*516G>T)
c.796G>T (p.Gly266Cys)
c.1302G>T (p.Ala434=)
n.847G>T
 gnomAD v4
20g.761134C>GCA509341364SLC52A3c.*516G>C (n.*516G>C)
c.796G>C (p.Gly266Arg)
c.1302G>C (p.Ala434=)
n.847G>C
20g.761134C>TCA509341365SLC52A3c.*516G>A (n.*516G>A)
c.796G>A (p.Gly266Ser)
c.1302G>A (p.Ala434=)
n.847G>A
 gnomAD v4
20g.761135G>ACA9724523SLC52A3c.*515C>T (n.*515C>T)
c.795C>T (p.Gly265=)
c.1301C>T (p.Ala434Val)
n.846C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.761135G>CCA407961918SLC52A3c.*515C>G (n.*515C>G)
c.795C>G (p.Gly265=)
c.1301C>G (p.Ala434Gly)
n.846C>G
20g.761135G=CA2345348106SLC52A3c.*515C= (n.*515C=)
c.795C= (p.Gly265=)
c.1301C= (p.Ala434=)
n.846C=
20g.761135G>TCA407961917SLC52A3c.*515C>A (n.*515C>A)
c.795C>A (p.Gly265=)
c.1301C>A (p.Ala434Glu)
n.846C>A
 gnomAD v4
20g.761136C>ACA407961919SLC52A3c.*514G>T (n.*514G>T)
c.794G>T (p.Gly265Val)
c.1300G>T (p.Ala434Ser)
n.845G>T
 gnomAD v4
20g.761136C>GCA407961920SLC52A3c.*514G>C (n.*514G>C)
c.794G>C (p.Gly265Ala)
c.1300G>C (p.Ala434Pro)
n.845G>C
20g.761136C>TCA407961921SLC52A3c.*514G>A (n.*514G>A)
c.794G>A (p.Gly265Asp)
c.1300G>A (p.Ala434Thr)
n.845G>A
 dbSNP gnomAD v4 COSMIC
20g.761139delCA2580097950SLC52A3c.*514del (n.*514del)
c.794del (p.Gly265AlafsTer?)
c.1300del (p.Ala434ArgfsTer?)
n.845del
 ClinVar
20g.761137C>ACA509341366SLC52A3c.*513G>T (n.*513G>T)
c.793G>T (p.Gly265Cys)
c.1299G>T (p.Gly433=)
n.844G>T
 dbSNP gnomAD v2 gnomAD v4
20g.761137C=CA2345348107SLC52A3c.*513G= (n.*513G=)
c.793G= (p.Gly265=)
c.1299G= (p.Gly433=)
n.844G=
20g.761137C>GCA509341367SLC52A3c.*513G>C (n.*513G>C)
c.793G>C (p.Gly265Arg)
c.1299G>C (p.Gly433=)
n.844G>C
 dbSNP gnomAD v4
20g.761137C>TCA509341368SLC52A3c.*513G>A (n.*513G>A)
c.793G>A (p.Gly265Ser)
c.1299G>A (p.Gly433=)
n.844G>A
 gnomAD v4
20g.761138C>ACA407961922SLC52A3c.*512G>T (n.*512G>T)
c.792G>T (p.Arg264=)
c.1298G>T (p.Gly433Val)
n.843G>T
 gnomAD v4
20g.761138C=CA2345348108SLC52A3c.*512G= (n.*512G=)
c.792G= (p.Arg264=)
c.1298G= (p.Gly433=)
n.843G=
20g.761138C>GCA407961923SLC52A3c.*512G>C (n.*512G>C)
c.792G>C (p.Arg264=)
c.1298G>C (p.Gly433Ala)
n.843G>C
 dbSNP
20g.761138C>TCA407961924SLC52A3c.*512G>A (n.*512G>A)
c.792G>A (p.Arg264=)
c.1298G>A (p.Gly433Glu)
n.843G>A
 gnomAD v4
20g.761139C>ACA407961925SLC52A3c.*511G>T (n.*511G>T)
c.791G>T (p.Arg264Leu)
c.1297G>T (p.Gly433Trp)
n.842G>T
 gnomAD v4
20g.761139C>GCA407961927SLC52A3c.*511G>C (n.*511G>C)
c.791G>C (p.Arg264Pro)
c.1297G>C (p.Gly433Arg)
n.842G>C
20g.761139C>TCA407961926SLC52A3c.*511G>A (n.*511G>A)
c.791G>A (p.Arg264Gln)
c.1297G>A (p.Gly433Arg)
n.842G>A
 gnomAD v4
20g.761140G>ACA9724524SLC52A3c.*510C>T (n.*510C>T)
c.790C>T (p.Arg264Trp)
c.1296C>T (p.Cys432=)
n.841C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.761140G>CCA407961928SLC52A3c.*510C>G (n.*510C>G)
c.790C>G (p.Arg264Gly)
c.1296C>G (p.Cys432Trp)
n.841C>G
20g.761140G=CA2345348109SLC52A3c.*510C= (n.*510C=)
c.790C= (p.Arg264=)
c.1296C= (p.Cys432=)
n.841C=
20g.761140G>TCA346994SLC52A3c.*510C>A (n.*510C>A)
c.790C>A (p.Arg264=)
c.1296C>A (p.Cys432Ter)
n.841C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761141C>ACA407961929SLC52A3c.*509G>T (n.*509G>T)
c.789G>T (p.Val263=)
c.1295G>T (p.Cys432Phe)
n.840G>T
20g.761141C=CA2345348110SLC52A3c.*509G= (n.*509G=)
c.789G= (p.Val263=)
c.1295G= (p.Cys432=)
n.840G=
20g.761141C>GCA407961930SLC52A3c.*509G>C (n.*509G>C)
c.789G>C (p.Val263=)
c.1295G>C (p.Cys432Ser)
n.840G>C
20g.761141C>TCA407961931SLC52A3c.*509G>A (n.*509G>A)
c.789G>A (p.Val263=)
c.1295G>A (p.Cys432Tyr)
n.840G>A
 dbSNP gnomAD v4
20g.761142A>CCA407961932SLC52A3c.*508T>G (n.*508T>G)
c.788T>G (p.Val263Gly)
c.1294T>G (p.Cys432Gly)
n.839T>G
20g.761142A>GCA407961933SLC52A3c.*508T>C (n.*508T>C)
c.788T>C (p.Val263Ala)
c.1294T>C (p.Cys432Arg)
n.839T>C
20g.761142A>TCA407961934SLC52A3c.*508T>A (n.*508T>A)
c.788T>A (p.Val263Glu)
c.1294T>A (p.Cys432Ser)
n.839T>A
20g.761143C>ACA407961935SLC52A3c.*507G>T (n.*507G>T)
c.787G>T (p.Val263Leu)
c.1293G>T (p.Trp431Cys)
n.838G>T
 gnomAD v4
20g.761143C=CA2345348111SLC52A3c.*507G= (n.*507G=)
c.787G= (p.Val263=)
c.1293G= (p.Trp431=)
n.838G=
20g.761143C>GCA407961936SLC52A3c.*507G>C (n.*507G>C)
c.787G>C (p.Val263Leu)
c.1293G>C (p.Trp431Cys)
n.838G>C
 dbSNP gnomAD v2 gnomAD v4
20g.761143C>TCA16609696SLC52A3c.*507G>A (n.*507G>A)
c.787G>A (p.Val263Met)
c.1293G>A (p.Trp431Ter)
n.838G>A
 dbSNP
20g.761144C>ACA407961939SLC52A3c.*506G>T (n.*506G>T)
c.786G>T (p.Val262=)
c.1292G>T (p.Trp431Leu)
n.837G>T
 gnomAD v4
20g.761144C=CA2345348112SLC52A3c.*506G= (n.*506G=)
c.786G= (p.Val262=)
c.1292G= (p.Trp431=)
n.837G=
20g.761144C>GCA407961937SLC52A3c.*506G>C (n.*506G>C)
c.786G>C (p.Val262=)
c.1292G>C (p.Trp431Ser)
n.837G>C
20g.761144C>TCA407961938SLC52A3c.*506G>A (n.*506G>A)
c.786G>A (p.Val262=)
c.1292G>A (p.Trp431Ter)
n.837G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761145A>CCA407961940SLC52A3c.*505T>G (n.*505T>G)
c.785T>G (p.Val262Gly)
c.1291T>G (p.Trp431Gly)
n.836T>G
20g.761145A>GCA407961941SLC52A3c.*505T>C (n.*505T>C)
c.785T>C (p.Val262Ala)
c.1291T>C (p.Trp431Arg)
n.836T>C
 gnomAD v4
20g.761145A>TCA407961942SLC52A3c.*505T>A (n.*505T>A)
c.785T>A (p.Val262Glu)
c.1291T>A (p.Trp431Arg)
n.836T>A
20g.761146C>ACA407961943SLC52A3c.*504G>T (n.*504G>T)
c.784G>T (p.Val262Leu)
c.1290G>T (p.Leu430Phe)
n.835G>T
20g.761146C>GCA407961944SLC52A3c.*504G>C (n.*504G>C)
c.784G>C (p.Val262Leu)
c.1290G>C (p.Leu430Phe)
n.835G>C
 gnomAD v4
20g.761146C>TCA509341369SLC52A3c.*504G>A (n.*504G>A)
c.784G>A (p.Val262Met)
c.1290G>A (p.Leu430=)
n.835G>A
20g.761147A>CCA407961947SLC52A3c.*503T>G (n.*503T>G)
c.783T>G (p.Leu261=)
c.1289T>G (p.Leu430Trp)
n.834T>G
 gnomAD v4
20g.761147A>GCA407961946SLC52A3c.*503T>C (n.*503T>C)
c.783T>C (p.Leu261=)
c.1289T>C (p.Leu430Ser)
n.834T>C
 gnomAD v4
20g.761147A>TCA407961945SLC52A3c.*503T>A (n.*503T>A)
c.783T>A (p.Leu261=)
c.1289T>A (p.Leu430Ter)
n.834T>A
20g.761148A=CA2345348113SLC52A3c.*502T= (n.*502T=)
c.782T= (p.Leu261=)
c.1288T= (p.Leu430=)
n.833T=
20g.761148A>CCA407961948SLC52A3c.*502T>G (n.*502T>G)
c.782T>G (p.Leu261Arg)
c.1288T>G (p.Leu430Val)
n.833T>G
20g.761148A>GCA9724525SLC52A3c.*502T>C (n.*502T>C)
c.782T>C (p.Leu261Pro)
c.1288T>C (p.Leu430=)
n.833T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761148A>TCA407961949SLC52A3c.*502T>A (n.*502T>A)
c.782T>A (p.Leu261His)
c.1288T>A (p.Leu430Met)
n.833T>A
20g.761149G>ACA509341370SLC52A3c.*501C>T (n.*501C>T)
c.781C>T (p.Leu261Phe)
c.1287C>T (p.Leu429=)
n.832C>T
20g.761149G>CCA509341371SLC52A3c.*501C>G (n.*501C>G)
c.781C>G (p.Leu261Val)
c.1287C>G (p.Leu429=)
n.832C>G
20g.761149G>TCA509341372SLC52A3c.*501C>A (n.*501C>A)
c.781C>A (p.Leu261Ile)
c.1287C>A (p.Leu429=)
n.832C>A
 gnomAD v4
20g.761150A>CCA407961950SLC52A3c.*500T>G (n.*500T>G)
c.780T>G (p.Pro260=)
c.1286T>G (p.Leu429Arg)
n.831T>G
20g.761150A>GCA407961951SLC52A3c.*500T>C (n.*500T>C)
c.780T>C (p.Pro260=)
c.1286T>C (p.Leu429Pro)
n.831T>C
20g.761150A>TCA407961952SLC52A3c.*500T>A (n.*500T>A)
c.780T>A (p.Pro260=)
c.1286T>A (p.Leu429His)
n.831T>A
20g.761153_761176delCA2651546439SLC52A3c.*477_*500del (n.*477_*500del)
c.757_780del (p.Ala253_Pro260del)
c.1263_1286del (p.Arg422_Leu429del)
n.808_831del
 gnomAD v4
20g.761151G>ACA407961955SLC52A3c.*499C>T (n.*499C>T)
c.779C>T (p.Pro260Leu)
c.1285C>T (p.Leu429Phe)
n.830C>T
20g.761151G>CCA407961953SLC52A3c.*499C>G (n.*499C>G)
c.779C>G (p.Pro260Arg)
c.1285C>G (p.Leu429Val)
n.830C>G
 gnomAD v4
20g.761151G>TCA407961954SLC52A3c.*499C>A (n.*499C>A)
c.779C>A (p.Pro260His)
c.1285C>A (p.Leu429Ile)
n.830C>A
 gnomAD v4
20g.761152G>ACA310674131SLC52A3c.*498C>T (n.*498C>T)
c.778C>T (p.Pro260Ser)
c.1284C>T (p.Ala428=)
n.829C>T
 dbSNP
20g.761152G>CCA509341373SLC52A3c.*498C>G (n.*498C>G)
c.778C>G (p.Pro260Ala)
c.1284C>G (p.Ala428=)
n.829C>G
20g.761152G=CA2345348114SLC52A3c.*498C= (n.*498C=)
c.778C= (p.Pro260=)
c.1284C= (p.Ala428=)
n.829C=
20g.761152G>TCA509341374SLC52A3c.*498C>A (n.*498C>A)
c.778C>A (p.Pro260Thr)
c.1284C>A (p.Ala428=)
n.829C>A
 gnomAD v4
20g.761153G>ACA407961956SLC52A3c.*497C>T (n.*497C>T)
c.777C>T (p.Arg259=)
c.1283C>T (p.Ala428Val)
n.828C>T
 gnomAD v4
20g.761153G>CCA407961957SLC52A3c.*497C>G (n.*497C>G)
c.777C>G (p.Arg259=)
c.1283C>G (p.Ala428Gly)
n.828C>G
20g.761153G>TCA407961958SLC52A3c.*497C>A (n.*497C>A)
c.777C>A (p.Arg259=)
c.1283C>A (p.Ala428Asp)
n.828C>A
20g.761154C>ACA407961959SLC52A3c.*496G>T (n.*496G>T)
c.776G>T (p.Arg259Leu)
c.1282G>T (p.Ala428Ser)
n.827G>T
 gnomAD v4
20g.761154C=CA2345348115SLC52A3c.*496G= (n.*496G=)
c.776G= (p.Arg259=)
c.1282G= (p.Ala428=)
n.827G=
20g.761154C>GCA407961960SLC52A3c.*496G>C (n.*496G>C)
c.776G>C (p.Arg259Pro)
c.1282G>C (p.Ala428Pro)
n.827G>C
20g.761154C>TCA407961961SLC52A3c.*496G>A (n.*496G>A)
c.776G>A (p.Arg259His)
c.1282G>A (p.Ala428Thr)
n.827G>A
 dbSNP gnomAD v3 gnomAD v4
20g.761155G>ACA509341375SLC52A3c.*495C>T (n.*495C>T)
c.775C>T (p.Arg259Cys)
c.1281C>T (p.Ser427=)
n.826C>T
 gnomAD v4
20g.761155G>CCA407961962SLC52A3c.*495C>G (n.*495C>G)
c.775C>G (p.Arg259Gly)
c.1281C>G (p.Ser427Arg)
n.826C>G
20g.761155G>TCA407961963SLC52A3c.*495C>A (n.*495C>A)
c.775C>A (p.Arg259Ser)
c.1281C>A (p.Ser427Arg)
n.826C>A
 gnomAD v4
20g.761156C>ACA407961964SLC52A3c.*494G>T (n.*494G>T)
c.774G>T (p.Gln258His)
c.1280G>T (p.Ser427Ile)
n.825G>T
 gnomAD v4
20g.761156C>GCA407961965SLC52A3c.*494G>C (n.*494G>C)
c.774G>C (p.Gln258His)
c.1280G>C (p.Ser427Thr)
n.825G>C
20g.761156C>TCA407961966SLC52A3c.*494G>A (n.*494G>A)
c.774G>A (p.Gln258=)
c.1280G>A (p.Ser427Asn)
n.825G>A
 gnomAD v4
20g.761157T>ACA407961969SLC52A3c.*493A>T (n.*493A>T)
c.773A>T (p.Gln258Leu)
c.1279A>T (p.Ser427Cys)
n.824A>T
20g.761157T>CCA407961967SLC52A3c.*493A>G (n.*493A>G)
c.773A>G (p.Gln258Arg)
c.1279A>G (p.Ser427Gly)
n.824A>G
 gnomAD v4
20g.761157T>GCA407961968SLC52A3c.*493A>C (n.*493A>C)
c.773A>C (p.Gln258Pro)
c.1279A>C (p.Ser427Arg)
n.824A>C
20g.761158G>ACA9724526SLC52A3c.*492C>T (n.*492C>T)
c.772C>T (p.Gln258Ter)
c.1278C>T (p.Arg426=)
n.823C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761158G>CCA509341376SLC52A3c.*492C>G (n.*492C>G)
c.772C>G (p.Gln258Glu)
c.1278C>G (p.Arg426=)
n.823C>G
20g.761158G=CA2345348116SLC52A3c.*492C= (n.*492C=)
c.772C= (p.Gln258=)
c.1278C= (p.Arg426=)
n.823C=
20g.761158G>TCA509341377SLC52A3c.*492C>A (n.*492C>A)
c.772C>A (p.Gln258Lys)
c.1278C>A (p.Arg426=)
n.823C>A
20g.761159C>ACA407961972SLC52A3c.*491G>T (n.*491G>T)
c.771G>T (p.Pro257=)
c.1277G>T (p.Arg426Leu)
n.822G>T
 gnomAD v4
20g.761159C=CA2345348117SLC52A3c.*491G= (n.*491G=)
c.771G= (p.Pro257=)
c.1277G= (p.Arg426=)
n.822G=
20g.761159C>GCA407961970SLC52A3c.*491G>C (n.*491G>C)
c.771G>C (p.Pro257=)
c.1277G>C (p.Arg426Pro)
n.822G>C
 dbSNP gnomAD v3 gnomAD v4
20g.761159C>TCA407961971SLC52A3c.*491G>A (n.*491G>A)
c.771G>A (p.Pro257=)
c.1277G>A (p.Arg426His)
n.822G>A
 gnomAD v4
20g.761160G>ACA9724527SLC52A3c.*490C>T (n.*490C>T)
c.770C>T (p.Pro257Leu)
c.1276C>T (p.Arg426Cys)
n.821C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761160G>CCA407961973SLC52A3c.*490C>G (n.*490C>G)
c.770C>G (p.Pro257Arg)
c.1276C>G (p.Arg426Gly)
n.821C>G
20g.761160G=CA2345348118SLC52A3c.*490C= (n.*490C=)
c.770C= (p.Pro257=)
c.1276C= (p.Arg426=)
n.821C=
20g.761160G>TCA407961974SLC52A3c.*490C>A (n.*490C>A)
c.770C>A (p.Pro257Gln)
c.1276C>A (p.Arg426Ser)
n.821C>A
 gnomAD v4
20g.761161G>ACA509341378SLC52A3c.*489C>T (n.*489C>T)
c.769C>T (p.Pro257Ser)
c.1275C>T (p.Ser425=)
n.820C>T
20g.761161G>CCA407961975SLC52A3c.*489C>G (n.*489C>G)
c.769C>G (p.Pro257Ala)
c.1275C>G (p.Ser425Arg)
n.820C>G
20g.761161G>TCA407961976SLC52A3c.*489C>A (n.*489C>A)
c.769C>A (p.Pro257Thr)
c.1275C>A (p.Ser425Arg)
n.820C>A
 gnomAD v4
20g.761162C>ACA407961977SLC52A3c.*488G>T (n.*488G>T)
c.768G>T (p.Gln256His)
c.1274G>T (p.Ser425Ile)
n.819G>T
 gnomAD v4
20g.761162C=CA2345348119SLC52A3c.*488G= (n.*488G=)
c.768G= (p.Gln256=)
c.1274G= (p.Ser425=)
n.819G=
20g.761162C>GCA407961978SLC52A3c.*488G>C (n.*488G>C)
c.768G>C (p.Gln256His)
c.1274G>C (p.Ser425Thr)
n.819G>C
20g.761162C>TCA407961979SLC52A3c.*488G>A (n.*488G>A)
c.768G>A (p.Gln256=)
c.1274G>A (p.Ser425Asn)
n.819G>A
 dbSNP gnomAD v2 gnomAD v4
20g.761163T>ACA407961980SLC52A3c.*487A>T (n.*487A>T)
c.767A>T (p.Gln256Leu)
c.1273A>T (p.Ser425Cys)
n.818A>T
20g.761163T>CCA407961981SLC52A3c.*487A>G (n.*487A>G)
c.767A>G (p.Gln256Arg)
c.1273A>G (p.Ser425Gly)
n.818A>G
 dbSNP
20g.761163T>GCA407961982SLC52A3c.*487A>C (n.*487A>C)
c.767A>C (p.Gln256Pro)
c.1273A>C (p.Ser425Arg)
n.818A>C
 ClinVar
20g.761164G>ACA9724528SLC52A3c.*486C>T (n.*486C>T)
c.766C>T (p.Gln256Ter)
c.1272C>T (p.Leu424=)
n.817C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761164G>CCA509341379SLC52A3c.*486C>G (n.*486C>G)
c.766C>G (p.Gln256Glu)
c.1272C>G (p.Leu424=)
n.817C>G
 ClinVar dbSNP COSMIC
20g.761164G=CA2345348120SLC52A3c.*486C= (n.*486C=)
c.766C= (p.Gln256=)
c.1272C= (p.Leu424=)
n.817C=
20g.761164G>TCA509341380SLC52A3c.*486C>A (n.*486C>A)
c.766C>A (p.Gln256Lys)
c.1272C>A (p.Leu424=)
n.817C>A
 gnomAD v4
20g.761165A>CCA407961983SLC52A3c.*485T>G (n.*485T>G)
c.765T>G (p.Pro255=)
c.1271T>G (p.Leu424Arg)
n.816T>G
20g.761165A>GCA407961984SLC52A3c.*485T>C (n.*485T>C)
c.765T>C (p.Pro255=)
c.1271T>C (p.Leu424Pro)
n.816T>C
20g.761165A>TCA407961985SLC52A3c.*485T>A (n.*485T>A)
c.765T>A (p.Pro255=)
c.1271T>A (p.Leu424His)
n.816T>A
20g.761166G>ACA9724529SLC52A3c.*484C>T (n.*484C>T)
c.764C>T (p.Pro255Leu)
c.1270C>T (p.Leu424Phe)
n.815C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761166G>CCA407961986SLC52A3c.*484C>G (n.*484C>G)
c.764C>G (p.Pro255Arg)
c.1270C>G (p.Leu424Val)
n.815C>G
20g.761166G=CA2345348121SLC52A3c.*484C= (n.*484C=)
c.764C= (p.Pro255=)
c.1270C= (p.Leu424=)
n.815C=
20g.761166G>TCA407961987SLC52A3c.*484C>A (n.*484C>A)
c.764C>A (p.Pro255His)
c.1270C>A (p.Leu424Ile)
n.815C>A
 gnomAD v4
20g.761167G>ACA310674163SLC52A3c.*483C>T (n.*483C>T)
c.763C>T (p.Pro255Ser)
c.1269C>T (p.Asp423=)
n.814C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761167G>CCA407961988SLC52A3c.*483C>G (n.*483C>G)
c.763C>G (p.Pro255Ala)
c.1269C>G (p.Asp423Glu)
n.814C>G
20g.761167G=CA2345348122SLC52A3c.*483C= (n.*483C=)
c.763C= (p.Pro255=)
c.1269C= (p.Asp423=)
n.814C=
20g.761167G>TCA407961989SLC52A3c.*483C>A (n.*483C>A)
c.763C>A (p.Pro255Thr)
c.1269C>A (p.Asp423Glu)
n.814C>A
 dbSNP gnomAD v4
20g.761168T>ACA407961990SLC52A3c.*482A>T (n.*482A>T)
c.762A>T (p.Arg254=)
c.1268A>T (p.Asp423Val)
n.813A>T
20g.761168T>CCA407961991SLC52A3c.*482A>G (n.*482A>G)
c.762A>G (p.Arg254=)
c.1268A>G (p.Asp423Gly)
n.813A>G
20g.761168T>GCA407961992SLC52A3c.*482A>C (n.*482A>C)
c.762A>C (p.Arg254=)
c.1268A>C (p.Asp423Ala)
n.813A>C
20g.761169C>ACA407961994SLC52A3c.*481G>T (n.*481G>T)
c.761G>T (p.Arg254Leu)
c.1267G>T (p.Asp423Tyr)
n.812G>T
 dbSNP gnomAD v4
20g.761169C=CA2345348123SLC52A3c.*481G= (n.*481G=)
c.761G= (p.Arg254=)
c.1267G= (p.Asp423=)
n.812G=
20g.761169C>GCA407961993SLC52A3c.*481G>C (n.*481G>C)
c.761G>C (p.Arg254Pro)
c.1267G>C (p.Asp423His)
n.812G>C
20g.761169C>TCA9724530SLC52A3c.*481G>A (n.*481G>A)
c.761G>A (p.Arg254Gln)
c.1267G>A (p.Asp423Asn)
n.812G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761170G>ACA310674190SLC52A3c.*480C>T (n.*480C>T)
c.760C>T (p.Arg254Ter)
c.1266C>T (p.Arg422=)
n.811C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761170G>CCA509341381SLC52A3c.*480C>G (n.*480C>G)
c.760C>G (p.Arg254Gly)
c.1266C>G (p.Arg422=)
n.811C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761170G=CA2345348124SLC52A3c.*480C= (n.*480C=)
c.760C= (p.Arg254=)
c.1266C= (p.Arg422=)
n.811C=
20g.761170G>TCA310674193SLC52A3c.*480C>A (n.*480C>A)
c.760C>A (p.Arg254=)
c.1266C>A (p.Arg422=)
n.811C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761171C>ACA407961996SLC52A3c.*479G>T (n.*479G>T)
c.759G>T (p.Ala253=)
c.1265G>T (p.Arg422Leu)
n.810G>T
 gnomAD v4
20g.761171C=CA2345348125SLC52A3c.*479G= (n.*479G=)
c.759G= (p.Ala253=)
c.1265G= (p.Arg422=)
n.810G=
20g.761171C>GCA310674195SLC52A3c.*479G>C (n.*479G>C)
c.759G>C (p.Ala253=)
c.1265G>C (p.Arg422Pro)
n.810G>C
 dbSNP gnomAD v3 gnomAD v4
20g.761171C>TCA407961995SLC52A3c.*479G>A (n.*479G>A)
c.759G>A (p.Ala253=)
c.1265G>A (p.Arg422His)
n.810G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.761172G>ACA407961997SLC52A3c.*478C>T (n.*478C>T)
c.758C>T (p.Ala253Val)
c.1264C>T (p.Arg422Cys)
n.809C>T
 gnomAD v4
20g.761172G>CCA407961998SLC52A3c.*478C>G (n.*478C>G)
c.758C>G (p.Ala253Gly)
c.1264C>G (p.Arg422Gly)
n.809C>G
20g.761172G>TCA407961999SLC52A3c.*478C>A (n.*478C>A)
c.758C>A (p.Ala253Glu)
c.1264C>A (p.Arg422Ser)
n.809C>A
 gnomAD v4
20g.761173C>ACA509341382SLC52A3c.*477G>T (n.*477G>T)
c.757G>T (p.Ala253Ser)
c.1263G>T (p.Leu421=)
n.808G>T
 ClinVar dbSNP gnomAD v4
20g.761173C=CA2345348126SLC52A3c.*477G= (n.*477G=)
c.757G= (p.Ala253=)
c.1263G= (p.Leu421=)
n.808G=
20g.761173C>GCA509341384SLC52A3c.*477G>C (n.*477G>C)
c.757G>C (p.Ala253Pro)
c.1263G>C (p.Leu421=)
n.808G>C
 gnomAD v4
20g.761173C>TCA509341383SLC52A3c.*477G>A (n.*477G>A)
c.757G>A (p.Ala253Thr)
c.1263G>A (p.Leu421=)
n.808G>A
 gnomAD v4
20g.761176_761187delCA2736222338SLC52A3c.*466_*477del (n.*466_*477del)
c.746_757del (p.Gly249_Pro252del)
c.1252_1263del (p.Gly418_Leu421del)
n.797_808del
 dbSNP
20g.761174A>CCA407962000SLC52A3c.*476T>G (n.*476T>G)
c.756T>G (p.Pro252=)
c.1262T>G (p.Leu421Arg)
n.807T>G
20g.761174A>GCA407962001SLC52A3c.*476T>C (n.*476T>C)
c.756T>C (p.Pro252=)
c.1262T>C (p.Leu421Pro)
n.807T>C
 gnomAD v4
20g.761174A>TCA407962002SLC52A3c.*476T>A (n.*476T>A)
c.756T>A (p.Pro252=)
c.1262T>A (p.Leu421Gln)
n.807T>A
20g.761175G>ACA509341385SLC52A3c.*475C>T (n.*475C>T)
c.755C>T (p.Pro252Leu)
c.1261C>T (p.Leu421=)
n.806C>T
20g.761175G>CCA407962003SLC52A3c.*475C>G (n.*475C>G)
c.755C>G (p.Pro252Arg)
c.1261C>G (p.Leu421Val)
n.806C>G
20g.761175G>TCA407962004SLC52A3c.*475C>A (n.*475C>A)
c.755C>A (p.Pro252His)
c.1261C>A (p.Leu421Met)
n.806C>A
 gnomAD v4
20g.761176G>ACA509341386SLC52A3c.*474C>T (n.*474C>T)
c.754C>T (p.Pro252Ser)
c.1260C>T (p.Val420=)
n.805C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761176G>CCA509341387SLC52A3c.*474C>G (n.*474C>G)
c.754C>G (p.Pro252Ala)
c.1260C>G (p.Val420=)
n.805C>G
20g.761176G=CA2345348127SLC52A3c.*474C= (n.*474C=)
c.754C= (p.Pro252=)
c.1260C= (p.Val420=)
n.805C=
20g.761176G>TCA509341388SLC52A3c.*474C>A (n.*474C>A)
c.754C>A (p.Pro252Thr)
c.1260C>A (p.Val420=)
n.805C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.761177A>CCA407962005SLC52A3c.*473T>G (n.*473T>G)
c.753T>G (p.Gly251=)
c.1259T>G (p.Val420Gly)
n.804T>G
 gnomAD v4
20g.761177A>GCA407962006SLC52A3c.*473T>C (n.*473T>C)
c.753T>C (p.Gly251=)
c.1259T>C (p.Val420Ala)
n.804T>C
 gnomAD v4
20g.761177A>TCA407962007SLC52A3c.*473T>A (n.*473T>A)
c.753T>A (p.Gly251=)
c.1259T>A (p.Val420Asp)
n.804T>A
20g.761178C>ACA407962009SLC52A3c.*472G>T (n.*472G>T)
c.752G>T (p.Gly251Val)
c.1258G>T (p.Val420Phe)
n.803G>T
20g.761178C=CA2345348128SLC52A3c.*472G= (n.*472G=)
c.752G= (p.Gly251=)
c.1258G= (p.Val420=)
n.803G=
20g.761178C>GCA407962008SLC52A3c.*472G>C (n.*472G>C)
c.752G>C (p.Gly251Ala)
c.1258G>C (p.Val420Leu)
n.803G>C
20g.761178C>TCA9724531SLC52A3c.*472G>A (n.*472G>A)
c.752G>A (p.Gly251Asp)
c.1258G>A (p.Val420Ile)
n.803G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.761179C>ACA509341389SLC52A3c.*471G>T (n.*471G>T)
c.751G>T (p.Gly251Cys)
c.1257G>T (p.Val419=)
n.802G>T
 ClinVar gnomAD v4
20g.761179C=CA2345348129SLC52A3c.*471G= (n.*471G=)
c.751G= (p.Gly251=)
c.1257G= (p.Val419=)
n.802G=
20g.761179C>GCA509341390SLC52A3c.*471G>C (n.*471G>C)
c.751G>C (p.Gly251Arg)
c.1257G>C (p.Val419=)
n.802G>C
 gnomAD v4
20g.761179C>TCA509341391SLC52A3c.*471G>A (n.*471G>A)
c.751G>A (p.Gly251Ser)
c.1257G>A (p.Val419=)
n.802G>A
 dbSNP gnomAD v4
20g.761180A>CCA407962010SLC52A3c.*470T>G (n.*470T>G)
c.750T>G (p.Arg250=)
c.1256T>G (p.Val419Gly)
n.801T>G
20g.761180A>GCA407962011SLC52A3c.*470T>C (n.*470T>C)
c.750T>C (p.Arg250=)
c.1256T>C (p.Val419Ala)
n.801T>C
20g.761180A>TCA407962012SLC52A3c.*470T>A (n.*470T>A)
c.750T>A (p.Arg250=)
c.1256T>A (p.Val419Glu)
n.801T>A
20g.761181C>ACA407962013SLC52A3c.*469G>T (n.*469G>T)
c.749G>T (p.Arg250Leu)
c.1255G>T (p.Val419Leu)
n.800G>T
 gnomAD v4
20g.761181C=CA2345348130SLC52A3c.*469G= (n.*469G=)
c.749G= (p.Arg250=)
c.1255G= (p.Val419=)
n.800G=
20g.761181C>GCA407962014SLC52A3c.*469G>C (n.*469G>C)
c.749G>C (p.Arg250Pro)
c.1255G>C (p.Val419Leu)
n.800G>C
20g.761181C>TCA347005SLC52A3c.*469G>A (n.*469G>A)
c.749G>A (p.Arg250His)
c.1255G>A (p.Val419Met)
n.800G>A
 dbSNP gnomAD v4
20g.761182G>ACA509341392SLC52A3c.*468C>T (n.*468C>T)
c.748C>T (p.Arg250Cys)
c.1254C>T (p.Gly418=)
n.799C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.761182G>CCA509341393SLC52A3c.*468C>G (n.*468C>G)
c.748C>G (p.Arg250Gly)
c.1254C>G (p.Gly418=)
n.799C>G
20g.761182G=CA2345348131SLC52A3c.*468C= (n.*468C=)
c.748C= (p.Arg250=)
c.1254C= (p.Gly418=)
n.799C=
20g.761182G>TCA509341394SLC52A3c.*468C>A (n.*468C>A)
c.748C>A (p.Arg250Ser)
c.1254C>A (p.Gly418=)
n.799C>A
 gnomAD v4
20g.761183C>ACA407962015SLC52A3c.*467G>T (n.*467G>T)
c.747G>T (p.Gly249=)
c.1253G>T (p.Gly418Val)
n.798G>T
 gnomAD v4
20g.761183C>GCA407962016SLC52A3c.*467G>C (n.*467G>C)
c.747G>C (p.Gly249=)
c.1253G>C (p.Gly418Ala)
n.798G>C
20g.761183C>TCA407962017SLC52A3c.*467G>A (n.*467G>A)
c.747G>A (p.Gly249=)
c.1253G>A (p.Gly418Asp)
n.798G>A
 ClinVar gnomAD v4
20g.761184C>ACA407962018SLC52A3c.*466G>T (n.*466G>T)
c.746G>T (p.Gly249Val)
c.1252G>T (p.Gly418Cys)
n.797G>T
 gnomAD v4
20g.761184C=CA2345348132SLC52A3c.*466G= (n.*466G=)
c.746G= (p.Gly249=)
c.1252G= (p.Gly418=)
n.797G=
20g.761184C>GCA407962019SLC52A3c.*466G>C (n.*466G>C)
c.746G>C (p.Gly249Ala)
c.1252G>C (p.Gly418Arg)
n.797G>C
20g.761184C>TCA407962020SLC52A3c.*466G>A (n.*466G>A)
c.746G>A (p.Gly249Glu)
c.1252G>A (p.Gly418Ser)
n.797G>A
 dbSNP gnomAD v4
20g.761185C>ACA509341395SLC52A3c.*465G>T (n.*465G>T)
c.745G>T (p.Gly249Trp)
c.1251G>T (p.Leu417=)
n.796G>T
 gnomAD v4
20g.761185C>GCA509341397SLC52A3c.*465G>C (n.*465G>C)
c.745G>C (p.Gly249Arg)
c.1251G>C (p.Leu417=)
n.796G>C
20g.761185C>TCA509341396SLC52A3c.*465G>A (n.*465G>A)
c.745G>A (p.Gly249Arg)
c.1251G>A (p.Leu417=)
n.796G>A
 gnomAD v4
20g.761186A>CCA407962022SLC52A3c.*464T>G (n.*464T>G)
c.744T>G (p.Ala248=)
c.1250T>G (p.Leu417Arg)
n.795T>G
20g.761186A>GCA407962023SLC52A3c.*464T>C (n.*464T>C)
c.744T>C (p.Ala248=)
c.1250T>C (p.Leu417Pro)
n.795T>C
 gnomAD v4
20g.761186A>TCA407962021SLC52A3c.*464T>A (n.*464T>A)
c.744T>A (p.Ala248=)
c.1250T>A (p.Leu417Gln)
n.795T>A
20g.761187G>ACA509341398SLC52A3c.*463C>T (n.*463C>T)
c.743C>T (p.Ala248Val)
c.1249C>T (p.Leu417=)
n.794C>T
 gnomAD v4
20g.761187G>CCA407962024SLC52A3c.*463C>G (n.*463C>G)
c.743C>G (p.Ala248Gly)
c.1249C>G (p.Leu417Val)
n.794C>G
 gnomAD v4
20g.761187G>TCA407962025SLC52A3c.*463C>A (n.*463C>A)
c.743C>A (p.Ala248Asp)
c.1249C>A (p.Leu417Met)
n.794C>A
 gnomAD v4
20g.761188C>ACA407962026SLC52A3c.*462G>T (n.*462G>T)
c.742G>T (p.Ala248Ser)
c.1248G>T (p.Met416Ile)
n.793G>T
 gnomAD v4
20g.761188C=CA2345348133SLC52A3c.*462G= (n.*462G=)
c.742G= (p.Ala248=)
c.1248G= (p.Met416=)
n.793G=
20g.761188C>GCA407962027SLC52A3c.*462G>C (n.*462G>C)
c.742G>C (p.Ala248Pro)
c.1248G>C (p.Met416Ile)
n.793G>C
20g.761188C>TCA9724532SLC52A3c.*462G>A (n.*462G>A)
c.742G>A (p.Ala248Thr)
c.1248G>A (p.Met416Ile)
n.793G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.761189A>CCA407962028SLC52A3c.*461T>G (n.*461T>G)
c.741T>G (p.Asp247Glu)
c.1247T>G (p.Met416Arg)
n.792T>G
20g.761189A>GCA407962029SLC52A3c.*461T>C (n.*461T>C)
c.741T>C (p.Asp247=)
c.1247T>C (p.Met416Thr)
n.792T>C
 gnomAD v4
20g.761189A>TCA407962030SLC52A3c.*461T>A (n.*461T>A)
c.741T>A (p.Asp247Glu)
c.1247T>A (p.Met416Lys)
n.792T>A
20g.761190T>ACA407962031SLC52A3c.*460A>T (n.*460A>T)
c.740A>T (p.Asp247Val)
c.1246A>T (p.Met416Leu)
n.791A>T
20g.761190T>CCA407962032SLC52A3c.*460A>G (n.*460A>G)
c.740A>G (p.Asp247Gly)
c.1246A>G (p.Met416Val)
n.791A>G
20g.761190T>GCA407962033SLC52A3c.*460A>C (n.*460A>C)
c.740A>C (p.Asp247Ala)
c.1246A>C (p.Met416Leu)
n.791A>C
 gnomAD v4
20g.761191C>ACA509341399SLC52A3c.*459G>T (n.*459G>T)
c.739G>T (p.Asp247Tyr)
c.1245G>T (p.Val415=)
n.790G>T
 gnomAD v4
20g.761191C=CA2345348134SLC52A3c.*459G= (n.*459G=)
c.739G= (p.Asp247=)
c.1245G= (p.Val415=)
n.790G=
20g.761191C>GCA509341400SLC52A3c.*459G>C (n.*459G>C)
c.739G>C (p.Asp247His)
c.1245G>C (p.Val415=)
n.790G>C
20g.761191C>TCA310674213SLC52A3c.*459G>A (n.*459G>A)
c.739G>A (p.Asp247Asn)
c.1245G>A (p.Val415=)
n.790G>A
 dbSNP
20g.761192A=CA2345348135SLC52A3c.*458T= (n.*458T=)
c.738T= (p.Gly246=)
c.1244T= (p.Val415=)
n.789T=
20g.761192A>CCA407962034SLC52A3c.*458T>G (n.*458T>G)
c.738T>G (p.Gly246=)
c.1244T>G (p.Val415Gly)
n.789T>G
 dbSNP gnomAD v4
20g.761192A>GCA407962035SLC52A3c.*458T>C (n.*458T>C)
c.738T>C (p.Gly246=)
c.1244T>C (p.Val415Ala)
n.789T>C
 gnomAD v4
20g.761192A>TCA407962036SLC52A3c.*458T>A (n.*458T>A)
c.738T>A (p.Gly246=)
c.1244T>A (p.Val415Glu)
n.789T>A
 gnomAD v4
20g.761193C>ACA407962038SLC52A3c.*457G>T (n.*457G>T)
c.737G>T (p.Gly246Val)
c.1243G>T (p.Val415Leu)
n.788G>T
 gnomAD v4
20g.761193C=CA2345348136SLC52A3c.*457G= (n.*457G=)
c.737G= (p.Gly246=)
c.1243G= (p.Val415=)
n.788G=
20g.761193C>GCA407962039SLC52A3c.*457G>C (n.*457G>C)
c.737G>C (p.Gly246Ala)
c.1243G>C (p.Val415Leu)
n.788G>C
20g.761193C>TCA407962037SLC52A3c.*457G>A (n.*457G>A)
c.737G>A (p.Gly246Asp)
c.1243G>A (p.Val415Met)
n.788G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.761194C>ACA407962040SLC52A3c.*456G>T (n.*456G>T)
c.736G>T (p.Gly246Cys)
c.1242G>T (p.Lys414Asn)
n.787G>T
 gnomAD v4
20g.761194C>GCA407962041SLC52A3c.*456G>C (n.*456G>C)
c.736G>C (p.Gly246Arg)
c.1242G>C (p.Lys414Asn)
n.787G>C
20g.761194C>TCA509341401SLC52A3c.*456G>A (n.*456G>A)
c.736G>A (p.Gly246Ser)
c.1242G>A (p.Lys414=)
n.787G>A
20g.761195T>ACA407962042SLC52A3c.*455A>T (n.*455A>T)
c.735A>T (p.Gln245His)
c.1241A>T (p.Lys414Met)
n.786A>T
20g.761195T>CCA9724533SLC52A3c.*455A>G (n.*455A>G)
c.735A>G (p.Gln245=)
c.1241A>G (p.Lys414Arg)
n.786A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761195T>GCA407962043SLC52A3c.*455A>C (n.*455A>C)
c.735A>C (p.Gln245His)
c.1241A>C (p.Lys414Thr)
n.786A>C
20g.761195T=CA2345348137SLC52A3c.*455A= (n.*455A=)
c.735A= (p.Gln245=)
c.1241A= (p.Lys414=)
n.786A=
20g.761196T>ACA407962046SLC52A3c.*454A>T (n.*454A>T)
c.734A>T (p.Gln245Leu)
c.1240A>T (p.Lys414Ter)
n.785A>T
 gnomAD v4
20g.761196T>CCA407962044SLC52A3c.*454A>G (n.*454A>G)
c.734A>G (p.Gln245Arg)
c.1240A>G (p.Lys414Glu)
n.785A>G
 gnomAD v4
20g.761196T>GCA407962045SLC52A3c.*454A>C (n.*454A>C)
c.734A>C (p.Gln245Pro)
c.1240A>C (p.Lys414Gln)
n.785A>C
20g.761197G>ACA509341402SLC52A3c.*453C>T (n.*453C>T)
c.733C>T (p.Gln245Ter)
c.1239C>T (p.Val413=)
n.784C>T
20g.761197G>CCA509341403SLC52A3c.*453C>G (n.*453C>G)
c.733C>G (p.Gln245Glu)
c.1239C>G (p.Val413=)
n.784C>G
20g.761197G>TCA509341404SLC52A3c.*453C>A (n.*453C>A)
c.733C>A (p.Gln245Lys)
c.1239C>A (p.Val413=)
n.784C>A
 gnomAD v4
20g.761198A=CA2345348138SLC52A3c.*452T= (n.*452T=)
c.732T= (p.Arg244=)
c.1238T= (p.Val413=)
n.783T=
20g.761198A>CCA407962047SLC52A3c.*452T>G (n.*452T>G)
c.732T>G (p.Arg244=)
c.1238T>G (p.Val413Gly)
n.783T>G
20g.761198A>GCA339797SLC52A3c.*452T>C (n.*452T>C)
c.732T>C (p.Arg244=)
c.1238T>C (p.Val413Ala)
n.783T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761198A>TCA407962048SLC52A3c.*452T>A (n.*452T>A)
c.732T>A (p.Arg244=)
c.1238T>A (p.Val413Asp)
n.783T>A
20g.761199C>ACA407962049SLC52A3c.*451G>T (n.*451G>T)
c.731G>T (p.Arg244Leu)
c.1237G>T (p.Val413Phe)
n.782G>T
 gnomAD v4
20g.761199C>GCA407962050SLC52A3c.*451G>C (n.*451G>C)
c.731G>C (p.Arg244Pro)
c.1237G>C (p.Val413Leu)
n.782G>C
 gnomAD v4
20g.761199C>TCA407962051SLC52A3c.*451G>A (n.*451G>A)
c.731G>A (p.Arg244His)
c.1237G>A (p.Val413Ile)
n.782G>A
 gnomAD v4
20g.761200G>ACA509341405SLC52A3c.*450C>T (n.*450C>T)
c.730C>T (p.Arg244Cys)
c.1236C>T (p.Tyr412=)
n.781C>T
 gnomAD v4
20g.761200G>CCA9724534SLC52A3c.*450C>G (n.*450C>G)
c.730C>G (p.Arg244Gly)
c.1236C>G (p.Tyr412Ter)
n.781C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761200G=CA2345348139SLC52A3c.*450C= (n.*450C=)
c.730C= (p.Arg244=)
c.1236C= (p.Tyr412=)
n.781C=
20g.761200G>TCA407962052SLC52A3c.*450C>A (n.*450C>A)
c.730C>A (p.Arg244Ser)
c.1236C>A (p.Tyr412Ter)
n.781C>A
 gnomAD v4
20g.761201T>ACA407962053SLC52A3c.*449A>T (n.*449A>T)
c.729A>T (p.Leu243Phe)
c.1235A>T (p.Tyr412Phe)
n.780A>T
20g.761201T>CCA407962054SLC52A3c.*449A>G (n.*449A>G)
c.729A>G (p.Leu243=)
c.1235A>G (p.Tyr412Cys)
n.780A>G
 dbSNP gnomAD v2 gnomAD v4
20g.761201T>GCA407962055SLC52A3c.*449A>C (n.*449A>C)
c.729A>C (p.Leu243Phe)
c.1235A>C (p.Tyr412Ser)
n.780A>C
20g.761201T=CA2345348140SLC52A3c.*449A= (n.*449A=)
c.729A= (p.Leu243=)
c.1235A= (p.Tyr412=)
n.780A=
20g.761202A>CCA407962056SLC52A3c.*448T>G (n.*448T>G)
c.728T>G (p.Leu243Ter)
c.1234T>G (p.Tyr412Asp)
n.779T>G
20g.761202A>GCA407962057SLC52A3c.*448T>C (n.*448T>C)
c.728T>C (p.Leu243Ser)
c.1234T>C (p.Tyr412His)
n.779T>C
 gnomAD v4
20g.761202A>TCA407962058SLC52A3c.*448T>A (n.*448T>A)
c.728T>A (p.Leu243Ter)
c.1234T>A (p.Tyr412Asn)
n.779T>A
20g.761203A=CA2345348141SLC52A3c.*447T= (n.*447T=)
c.727T= (p.Leu243=)
c.1233T= (p.Ser411=)
n.778T=
20g.761203A>CCA407962060SLC52A3c.*447T>G (n.*447T>G)
c.727T>G (p.Leu243Val)
c.1233T>G (p.Ser411Arg)
n.778T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.761203A>GCA9724535SLC52A3c.*447T>C (n.*447T>C)
c.727T>C (p.Leu243=)
c.1233T>C (p.Ser411=)
n.778T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.761203A>TCA407962059SLC52A3c.*447T>A (n.*447T>A)
c.727T>A (p.Leu243Ile)
c.1233T>A (p.Ser411Arg)
n.778T>A
 gnomAD v4
20g.761203delinsCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGCGTAGGCA2739277023SLC52A3c.*447delinsCCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG (n.*447delinsCCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG)
c.727delinsCCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG (p.Leu243delinsProThrLeuProSerArgProArgArgTrpProArgGlyCysPheSerAlaAlaAlaSerVal)
c.1233delinsCCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG (p.Ser411_Tyr412insLeuArgPheProProGlyProAlaGlyGlyLeuValGlyAlaPheGlnArgLeuProGln)
n.778delinsCCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
 ClinVar
20g.761204C>ACA407962061SLC52A3c.*446G>T (n.*446G>T)
c.726G>T (p.Gln242His)
c.1232G>T (p.Ser411Ile)
n.777G>T
 dbSNP gnomAD v2 gnomAD v4
20g.761204C=CA2345348142SLC52A3c.*446G= (n.*446G=)
c.726G= (p.Gln242=)
c.1232G= (p.Ser411=)
n.777G=
20g.761204C>GCA407962062SLC52A3c.*446G>C (n.*446G>C)
c.726G>C (p.Gln242His)
c.1232G>C (p.Ser411Thr)
n.777G>C
 gnomAD v4
20g.761204C>TCA407962063SLC52A3c.*446G>A (n.*446G>A)
c.726G>A (p.Gln242=)
c.1232G>A (p.Ser411Asn)
n.777G>A
 dbSNP gnomAD v2 gnomAD v4
20g.761258_761259insCGTAGCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGCA634326173SLC52A3c.*446_*447insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG (n.*446_*447insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG)
c.726_727insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
n.777_778insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
 gnomAD v2 gnomAD v3 gnomAD v4
20g.761205T>ACA407962064SLC52A3c.*445A>T (n.*445A>T)
c.725A>T (p.Gln242Leu)
c.1231A>T (p.Ser411Cys)
n.776A>T
 gnomAD v4
20g.761205T>CCA407962065SLC52A3c.*445A>G (n.*445A>G)
c.725A>G (p.Gln242Arg)
c.1231A>G (p.Ser411Gly)
n.776A>G
 gnomAD v4
20g.761205T>GCA407962066SLC52A3c.*445A>C (n.*445A>C)
c.725A>C (p.Gln242Pro)
c.1231A>C (p.Ser411Arg)
n.776A>C
20g.761206G>ACA509341406SLC52A3c.*444C>T (n.*444C>T)
c.724C>T (p.Gln242Ter)
c.1230C>T (p.Leu410=)
n.775C>T
 gnomAD v4
20g.761206G>CCA509341407SLC52A3c.*444C>G (n.*444C>G)
c.724C>G (p.Gln242Glu)
c.1230C>G (p.Leu410=)
n.775C>G
 gnomAD v4
20g.761206G=CA2345348143SLC52A3c.*444C= (n.*444C=)
c.724C= (p.Gln242=)
c.1230C= (p.Leu410=)
n.775C=
20g.761206G>TCA509341408SLC52A3c.*444C>A (n.*444C>A)
c.724C>A (p.Gln242Lys)
c.1230C>A (p.Leu410=)
n.775C>A
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched