NM_000284.4(PDHA1):c.*549A>G
|
rs187525386
|
0.00126
|
NM_000284.4(PDHA1):c.*575T>C
|
rs191995452
|
0.00114
|
NM_000284.4(PDHA1):c.*1297G>A
|
rs778678656
|
0.00112
|
NM_000284.4(PDHA1):c.*349A>G
|
rs1013526559
|
0.00092
|
NM_000284.4(PDHA1):c.*432C>T
|
rs754719295
|
0.00068
|
NM_000284.4(PDHA1):c.*321C>T
|
rs886566327
|
0.00061
|
NM_000284.4(PDHA1):c.*729G>A
|
rs376808450
|
0.00033
|
NM_000284.4(PDHA1):c.-79C>T
|
rs942040058
|
0.00024
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000284.4(PDHA1):c.*1306G>A
|
rs745566169
|
0.00018
|
NM_000284.4(PDHA1):c.*1458C>T
|
rs923765752
|
0.00016
|
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)
|
rs764996618
|
0.00011
|
NM_000284.4(PDHA1):c.*1347C>T
|
rs1241045421
|
0.00006
|
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
|
rs768396832
|
0.00006
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)
|
rs373275701
|
0.00002
|
NM_000284.4(PDHA1):c.*1376C>T
|
rs963546680
|
0.00001
|
NM_000284.4(PDHA1):c.*1779A>T
|
rs758279534
|
0.00001
|
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys)
|
rs1269552788
|
0.00001
|
NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn)
|
rs770669838
|
0.00001
|
NM_000284.4(PDHA1):c.292-23A>G
|
rs1057518702
|
0.00001
|
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
|
rs769308417
|
0.00001
|
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)
|
rs755945768
|
0.00001
|
NC_000023.10:g.(?_19368035)_(19377771_?)dup
|
|
|
NM_000284.4(PDHA1):c.*10_*12del
|
rs752082232
|
|
NM_000284.4(PDHA1):c.*1624T>C
|
rs2063283398
|
|
NM_000284.4(PDHA1):c.*198G>A
|
rs1003909173
|
|
NM_000284.4(PDHA1):c.1008+4C>T
|
|
|
NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)
|
|
|
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)
|
rs2063244761
|
|
NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)
|
|
|
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
|
rs1244401639
|
|
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)
|
|
|
NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)
|
|
|
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
|
|
|
NM_000284.4(PDHA1):c.1088A>C (p.Glu363Ala)
|
|
|
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
|
|
|
NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)
|
|
|
NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)
|
|
|
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)
|
rs1602233040
|
|
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)
|
|
|
NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)
|
|
|
NM_000284.4(PDHA1):c.1159_1164dup (p.Ser388_Val389insLysSer)
|
|
|
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
|
|
|
NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)
|
|
|
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)
|
|
|
NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn)
|
rs2147174771
|
|
NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)
|
|
|
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
|
|
|
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)
|
rs1569190092
|
|
NM_000284.4(PDHA1):c.335_349del (p.Asp112_Thr116del)
|
|
|
NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)
|
|
|
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)
|
rs1057518695
|
|
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr)
|
rs1555933946
|
|
NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)
|
|
|
NM_000284.4(PDHA1):c.499G>C (p.Val167Leu)
|
rs2063174067
|
|
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)
|
rs1602226867
|
|
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
|
rs2063182775
|
|
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)
|
rs2147179733
|
|
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)
|
rs1555934165
|
|
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys)
|
rs2147179754
|
|
NM_000284.4(PDHA1):c.57+2505C>G
|
|
|
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile)
|
rs2147180753
|
|
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr)
|
rs1057518756
|
|
NM_000284.4(PDHA1):c.689G>C (p.Gly230Ala)
|
|
|
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)
|
rs863224145
|
|
NM_000284.4(PDHA1):c.734G>C (p.Arg245Thr)
|
|
|
NM_000284.4(PDHA1):c.759+26G>A
|
rs1555934413
|
|
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
|
|
|
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)
|
|
|
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe)
|
|
|
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)
|
rs2063192428
|
|
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)
|
|
|
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)
|
rs2063192867
|
|
NM_000284.4(PDHA1):c.832-6T>C
|
rs2063212957
|
|
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)
|
rs1602229682
|
|
NM_000284.4(PDHA1):c.900-12_936dup
|
|
|
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)
|
rs1602231489
|
|
NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)
|
|
|
NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)
|
|
|
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
|
rs2063233021
|
|
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)
|
|
|
NM_000284.4(PDHA1):c.998_1008+20dup
|
rs2063233544
|
|
NM_001001671.4(MAP3K15):c.3781-7G>C
|
rs2147195977
|
|