Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
20g.761207A>CCA407962067SLC52A3c.*443T>G (n.*443T>G)
c.723T>G (p.Pro241=)
c.1229T>G (p.Leu410Arg)
n.774T>G
20g.761207A>GCA407962069SLC52A3c.*443T>C (n.*443T>C)
c.723T>C (p.Pro241=)
c.1229T>C (p.Leu410Pro)
n.774T>C
 gnomAD v4
20g.761207A>TCA407962068SLC52A3c.*443T>A (n.*443T>A)
c.723T>A (p.Pro241=)
c.1229T>A (p.Leu410His)
n.774T>A
 gnomAD v4
20g.761208G>ACA407962070SLC52A3c.*442C>T (n.*442C>T)
c.722C>T (p.Pro241Leu)
c.1228C>T (p.Leu410Phe)
n.773C>T
 gnomAD v4
20g.761208G>CCA407962071SLC52A3c.*442C>G (n.*442C>G)
c.722C>G (p.Pro241Arg)
c.1228C>G (p.Leu410Val)
n.773C>G
20g.761208G>TCA407962072SLC52A3c.*442C>A (n.*442C>A)
c.722C>A (p.Pro241His)
c.1228C>A (p.Leu410Ile)
n.773C>A
 gnomAD v4
20g.761209G>ACA509341409SLC52A3c.*441C>T (n.*441C>T)
c.721C>T (p.Pro241Ser)
c.1227C>T (p.Cys409=)
n.772C>T
 ClinVar gnomAD v4
20g.761209G>CCA9724536SLC52A3c.*441C>G (n.*441C>G)
c.721C>G (p.Pro241Ala)
c.1227C>G (p.Cys409Trp)
n.772C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.761209G=CA2345348144SLC52A3c.*441C= (n.*441C=)
c.721C= (p.Pro241=)
c.1227C= (p.Cys409=)
n.772C=
20g.761209G>TCA407962073SLC52A3c.*441C>A (n.*441C>A)
c.721C>A (p.Pro241Thr)
c.1227C>A (p.Cys409Ter)
n.772C>A
 gnomAD v4
20g.761210C>ACA407962074SLC52A3c.*440G>T (n.*440G>T)
c.720G>T (p.Leu240=)
c.1226G>T (p.Cys409Phe)
n.771G>T
 gnomAD v4
20g.761210C=CA2345348145SLC52A3c.*440G= (n.*440G=)
c.720G= (p.Leu240=)
c.1226G= (p.Cys409=)
n.771G=
20g.761210C>GCA407962075SLC52A3c.*440G>C (n.*440G>C)
c.720G>C (p.Leu240=)
c.1226G>C (p.Cys409Ser)
n.771G>C
20g.761210C>TCA9724537SLC52A3c.*440G>A (n.*440G>A)
c.720G>A (p.Leu240=)
c.1226G>A (p.Cys409Tyr)
n.771G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.761211A>CCA407962076SLC52A3c.*439T>G (n.*439T>G)
c.719T>G (p.Leu240Arg)
c.1225T>G (p.Cys409Gly)
n.770T>G

Number of alleles fetched