NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
NM_020166.5(MCCC1):c.1A>G (p.Met1Val)
|
rs762463914
|
0.00004
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00004
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)
|
rs398124352
|
0.00001
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
NM_020166.5(MCCC1):c.89+1G>C
|
rs771730236
|
0.00001
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_001243279.3(ACSF3):c.1126+1G>A
|
rs916461556
|
|
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)
|
rs751342087
|
|
NM_001243279.3(ACSF3):c.1718del (p.Phe573fs)
|
rs796051924
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
|
rs200895671
|
|
NM_022132.5(MCCC2):c.1149+1G>A
|
rs2112460011
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
|
rs869320655
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|