NM_001040436.3(YARS2):c.751A>G (p.Ile251Val)
|
rs372098364
|
0.00007
|
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val)
|
rs146717589
|
0.00006
|
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu)
|
rs745595833
|
0.00004
|
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)
|
rs199931785
|
0.00004
|
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)
|
rs370699359
|
0.00004
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr)
|
rs137852304
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter)
|
rs779651314
|
0.00001
|
NM_182916.3(TRNT1):c.1010del (p.Thr337fs)
|
rs772805677
|
0.00001
|
NC_000003.11:g.(?_3179743)_(3189406_?)del
|
|
|
NM_000032.5(ALAS2):c.-15-2188A>G
|
|
|
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)
|
rs1935671225
|
|
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)
|
rs2146715075
|
|
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)
|
rs267607180
|
|
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)
|
rs1057518042
|
|
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)
|
rs121918331
|
|
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)
|
rs146864395
|
|
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs)
|
rs1575247302
|
|
NM_017875.4(SLC25A38):c.793-1G>C
|
|
|
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
|
|
|
NM_025215.6(PUS1):c.1237-2A>G
|
|
|
NM_025215.6(PUS1):c.130dup (p.Gln44fs)
|
|
|
NM_025215.6(PUS1):c.178del (p.Glu60fs)
|
|
|
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)
|
|
|
NM_025215.6(PUS1):c.442-1G>T
|
|
|
NM_025215.6(PUS1):c.454dup (p.Ala152fs)
|
rs1555268564
|
|
NM_025215.6(PUS1):c.517del (p.His173fs)
|
|
|
NM_025215.6(PUS1):c.545-1G>A
|
|
|
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
|
|
|
NM_025215.6(PUS1):c.813del (p.Phe272fs)
|
rs1566148136
|
|
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
|
|
|
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
|
|
|
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
|
|
|
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
|
|
|
NM_025215.6(PUS1):c.929del (p.Pro310fs)
|
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
NM_182916.3(TRNT1):c.128_130del (p.Glu43del)
|
rs876661297
|
|
NM_182916.3(TRNT1):c.342+1G>T
|
|
|
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)
|
rs761516140
|
|
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)
|
rs754883449
|
|
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys)
|
rs750995691
|
|