NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
NM_023936.2(MRPS34):c.322-10G>A
|
rs563189672
|
0.00015
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_018292.5(QRSL1):c.850-3A>G
|
rs947204455
|
0.00002
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)
|
rs119470019
|
0.00002
|
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
|
rs119470018
|
0.00002
|
NM_001206427.2(ATP5MK):c.87+2dup
|
rs1339841048
|
0.00001
|
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)
|
rs1491203033
|
0.00001
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
0.00001
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del
|
|
|
NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter)
|
rs1559359546
|
|
NM_001136193.2(FASTKD2):c.991-2A>G
|
|
|
NM_001379210.1(SLC25A26):c.191-1G>T
|
|
|
NM_005726.6(TSFM):c.551del (p.Asp184fs)
|
|
|
NM_005932.4(MIPEP):c.1848+2T>G
|
|
|
NM_012123.4(MTO1):c.1274del (p.Gly425fs)
|
|
|
NM_016034.5(MRPS2):c.300-2A>G
|
|
|
NM_018127.7(ELAC2):c.52C>T (p.Gln18Ter)
|
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
|
|
NM_020442.6(VARS2):c.1480-2A>G
|
|
|
NM_020442.6(VARS2):c.420del (p.Met141fs)
|
|
|
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)
|
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)
|
rs143697995
|
|
NM_024678.6(NARS2):c.947del (p.Asn316fs)
|
rs755975670
|
|
NM_024996.7(GFM1):c.1765-2_1765-1del
|
rs1245712932
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)
|
|
|