NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_001128590.1(CYP21A2):c.-113G>A
|
rs1246774295
|
0.00251
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile)
|
rs373579128
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys)
|
rs772900496
|
0.00001
|
NM_000500.7:c.*28699080dupT
|
|
|
NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr)
|
rs2151875295
|
|
NM_000500.9(CYP21A2):c.1118+1G>A
|
rs778895502
|
|
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn)
|
rs1554305880
|
|
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn)
|
rs1429901248
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val)
|
rs2151876633
|
|
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)
|
rs779791105
|
|
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
|
rs397509367
|
|
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs)
|
rs886038207
|
|
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs)
|
rs1582298980
|
|
NM_000500.9(CYP21A2):c.254del (p.Lys85fs)
|
rs1582300748
|
|
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly)
|
rs1554304513
|
|
NM_000500.9(CYP21A2):c.292+1G>A
|
rs779144910
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
|
|
|
NM_000500.9(CYP21A2):c.405del (p.Met136fs)
|
rs2151871966
|
|
NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)
|
|
|
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val)
|
rs1582305275
|
|
NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter)
|
rs1776123817
|
|
NM_000500.9(CYP21A2):c.652-1G>A
|
rs1397184823
|
|
NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)
|
|
|
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser)
|
rs182942340
|
|
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr)
|
rs1582307951
|
|
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg)
|
rs1582307951
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser)
|
|
|
NM_000500.9(CYP21A2):c.958GAG[1] (p.Glu321del)
|
rs1582309414
|
|
NM_000500.9:c.(?_-50)_(939+1_940-1)del
|
|
|