Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937583C>TCA252890ATP7Bc.*1446G>A (n.*1446G>A)
c.*2540G>A (n.*2540G>A)
c.3175G>A (p.Gly1059Arg)
c.3796G>A (p.Gly1266Arg)
c.3463G>A (p.Gly1155Arg)
c.3544G>A (p.Gly1182Arg)
n.1037G>A
c.3562G>A (p.Gly1188Arg)
n.3935G>A
n.662G>A
c.2731G>A (p.Gly911Arg)
c.2506G>A (p.Gly836Arg)
c.3601G>A (p.Gly1201Arg)
c.1574G>A
c.*897G>A (n.*897G>A)
n.4540G>A
n.3141G>A
c.3652G>A (p.Gly1218Arg)
c.3700G>A (p.Gly1234Arg)
c.3760G>A (p.Gly1254Arg)
c.3310G>A (p.Gly1104Arg)
c.1612G>A (p.Gly538Arg)
c.1429G>A (p.Gly477Arg)
c.3661G>A (p.Gly1221Arg)
c.3613G>A (p.Gly1205Arg)
c.3382G>A (p.Gly1128Arg)
c.3283G>A (p.Gly1095Arg)
c.2464G>A (p.Gly822Arg)
n.4015G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.51937583C>ACA388022026ATP7Bc.*1446G>T (n.*1446G>T)
c.*2540G>T (n.*2540G>T)
c.3175G>T (p.Gly1059Trp)
c.3796G>T (p.Gly1266Trp)
c.3463G>T (p.Gly1155Trp)
c.3544G>T (p.Gly1182Trp)
n.1037G>T
c.3562G>T (p.Gly1188Trp)
n.3935G>T
n.662G>T
c.2731G>T (p.Gly911Trp)
c.2506G>T (p.Gly836Trp)
c.3601G>T (p.Gly1201Trp)
c.1574G>T
c.*897G>T (n.*897G>T)
n.4540G>T
n.3141G>T
c.3652G>T (p.Gly1218Trp)
c.3700G>T (p.Gly1234Trp)
c.3760G>T (p.Gly1254Trp)
c.3310G>T (p.Gly1104Trp)
c.1612G>T (p.Gly538Trp)
c.1429G>T (p.Gly477Trp)
c.3661G>T (p.Gly1221Trp)
c.3613G>T (p.Gly1205Trp)
c.3382G>T (p.Gly1128Trp)
c.3283G>T (p.Gly1095Trp)
c.2464G>T (p.Gly822Trp)
n.4015G>T
 ClinVar dbSNP
13g.51937583C=CA2091554101ATP7Bc.*1446G= (n.*1446G=)
c.*2540G= (n.*2540G=)
c.3175G= (p.Gly1059=)
c.3796G= (p.Gly1266=)
c.3463G= (p.Gly1155=)
c.3544G= (p.Gly1182=)
n.1037G=
c.3562G= (p.Gly1188=)
n.3935G=
n.662G=
c.2731G= (p.Gly911=)
c.2506G= (p.Gly836=)
c.3601G= (p.Gly1201=)
c.1574G=
c.*897G= (n.*897G=)
n.4540G=
n.3141G=
c.3652G= (p.Gly1218=)
c.3700G= (p.Gly1234=)
c.3760G= (p.Gly1254=)
c.3310G= (p.Gly1104=)
c.1612G= (p.Gly538=)
c.1429G= (p.Gly477=)
c.3661G= (p.Gly1221=)
c.3613G= (p.Gly1205=)
c.3382G= (p.Gly1128=)
c.3283G= (p.Gly1095=)
c.2464G= (p.Gly822=)
n.4015G=
 dbSNP
13g.51937583C>GCA388022028ATP7Bc.*1446G>C (n.*1446G>C)
c.*2540G>C (n.*2540G>C)
c.3175G>C (p.Gly1059Arg)
c.3796G>C (p.Gly1266Arg)
c.3463G>C (p.Gly1155Arg)
c.3544G>C (p.Gly1182Arg)
n.1037G>C
c.3562G>C (p.Gly1188Arg)
n.3935G>C
n.662G>C
c.2731G>C (p.Gly911Arg)
c.2506G>C (p.Gly836Arg)
c.3601G>C (p.Gly1201Arg)
c.1574G>C
c.*897G>C (n.*897G>C)
n.4540G>C
n.3141G>C
c.3652G>C (p.Gly1218Arg)
c.3700G>C (p.Gly1234Arg)
c.3760G>C (p.Gly1254Arg)
c.3310G>C (p.Gly1104Arg)
c.1612G>C (p.Gly538Arg)
c.1429G>C (p.Gly477Arg)
c.3661G>C (p.Gly1221Arg)
c.3613G>C (p.Gly1205Arg)
c.3382G>C (p.Gly1128Arg)
c.3283G>C (p.Gly1095Arg)
c.2464G>C (p.Gly822Arg)
n.4015G>C
 dbSNP

Number of alleles fetched