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.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=

Number of alleles fetched