NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys)
|
rs6474
|
0.25928
|
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)
|
rs6472
|
0.13352
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
|
|
|
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=)
|
rs397515529
|
|
NM_000500.9(CYP21A2):c.17TGC[6] (p.Leu10dup)
|
rs61338903
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu)
|
rs397515531
|
|
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro)
|
rs80338846
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro)
|
rs80338847
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)
|
|
|