NM_001135024.2(PDHX):c.-48del
|
rs1158194122
|
0.00003
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
0.00001
|
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
|
rs1272572107
|
0.00001
|
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
|
rs2063233462
|
0.00001
|
NM_000284.4(PDHA1):c.1011_1034del
|
rs2518507553
|
|
NM_000284.4(PDHA1):c.1014_1033dup (p.Glu345delinsValMetTrpLysTer)
|
|
|
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)
|
rs886044701
|
|
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)
|
rs1157736285
|
|
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)
|
rs2063246734
|
|
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)
|
rs2147189334
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis)
|
rs2518507983
|
|
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)
|
rs2518508016
|
|
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)
|
rs2518508076
|
|
NM_000284.4(PDHA1):c.133delinsATTTCTGGG (p.Arg45fs)
|
rs2519339591
|
|
NM_000284.4(PDHA1):c.157dup (p.Thr53fs)
|
|
|
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
|
rs2519339692
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)
|
rs2519339792
|
|
NM_000284.4(PDHA1):c.291+1_418+1dup
|
|
|
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)
|
rs1569190422
|
|
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)
|
rs2147176072
|
|
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
|
rs2519341308
|
|
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)
|
rs794729213
|
|
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)
|
rs1555933954
|
|
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)
|
rs1131692230
|
|
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
|
rs2518497064
|
|
NM_000284.4(PDHA1):c.46del (p.Ser16fs)
|
rs2147168716
|
|
NM_000284.4(PDHA1):c.490A>G (p.Asn164Asp)
|
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
|
rs1602226867
|
|
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
|
rs2518498635
|
|
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)
|
rs2147179733
|
|
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)
|
rs1555934165
|
|
NM_000284.4(PDHA1):c.57+2531T>C
|
rs2063135938
|
|
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)
|
rs137853254
|
|
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)
|
rs2147180742
|
|
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
|
rs886042089
|
|
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)
|
rs2147180839
|
|
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)
|
rs2147180851
|
|
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
|
rs1272572107
|
|
NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)
|
|
|
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)
|
rs1602227679
|
|
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
|
rs2518500437
|
|
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
|
rs2063192428
|
|
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)
|
rs1569191879
|
|
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs)
|
rs1555934859
|
|
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)
|
rs2063213272
|
|
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)
|
rs2147184502
|
|
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)
|
rs2147184540
|
|
NM_000284.4(PDHA1):c.899+2T>C
|
rs2063213491
|
|
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
|
rs1555935223
|
|
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)
|
rs863224153
|
|