|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
|
NM_017986.4(SLC52A1):c.499G>A (p.Val167Met)
|
rs748747430
|
0.00007
|
|
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)
|
rs372947070
|
0.00007
|
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
|
NM_018129.4(PNPO):c.364-1G>A
|
rs774710082
|
0.00002
|
|
NM_024514.5(CYP2R1):c.433C>T (p.Arg145Ter)
|
rs576642411
|
0.00002
|
|
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His)
|
rs762550487
|
0.00001
|
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
|
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)
|
rs549477447
|
0.00001
|
|
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)
|
rs80338785
|
|
|
NM_000334.4(SCN4A):c.4501A>G (p.Met1501Val)
|
|
|
|
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
|
|
|
|
NM_000376.3(VDR):c.985G>C (p.Glu329Gln)
|
|
|
|
NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg)
|
|
|
|
NM_001081.4(CUBN):c.4351-1G>C
|
|
|
|
NM_001182.5(ALDH7A1):c.1318-8C>T
|
|
|
|
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter)
|
rs760636660
|
|
|
NM_001182.5(ALDH7A1):c.263_264del (p.Asp87_Tyr88insTer)
|
|
|
|
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
|
|
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
|
NM_001370658.1(BTD):c.91_92del (p.Asp31fs)
|
|
|
|
NM_002303.6(LEPR):c.1752+1G>A
|
|
|
|
NM_002454.3(MTRR):c.781-2A>T
|
|
|
|
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
|
rs111033566
|
|
|
NM_004714.3(DYRK1B):c.1811C>T (p.Pro604Leu)
|
|
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
|
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
|
|
|
|
NM_007198.4(PLPBP):c.19A>C (p.Met7Leu)
|
|
|
|
NM_007198.4(PLPBP):c.19A>G (p.Met7Val)
|
|
|
|
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)
|
rs1553162788
|
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
|
NM_016729.3(FOLR1):c.148G>A (p.Glu50Lys)
|
|
|
|
NM_016729.3(FOLR1):c.713_719dup (p.Ala241fs)
|
rs1948231142
|
|
|
NM_018129.4(PNPO):c.784T>C (p.Ter262Gln)
|
rs104894631
|
|
|
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
|
|
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
|
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
|
|
|