NM_018972.4(GDAP1):c.*1489del
|
rs34856543
|
0.04395
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_018972.2(GDAP1):c.*2730_*2731insAA
|
rs886063120
|
0.00306
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
NM_003680.4(YARS1):c.510+10G>C
|
rs201272488
|
0.00024
|
NM_001005361.3(DNM2):c.789G>A (p.Pro263=)
|
rs199976453
|
0.00014
|
NM_003680.4(YARS1):c.414C>T (p.Ser138=)
|
rs762551221
|
0.00004
|
NM_018972.4(GDAP1):c.*934_*935insTA
|
rs368736368
|
0.00001
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473
|
|
NM_000530.8(MPZ):c.*901GA[7]
|
rs149030537
|
|
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)
|
rs886045475
|
|
NM_001005361.3(DNM2):c.*29dup
|
rs575649173
|
|
NM_001005361.3(DNM2):c.*312dup
|
rs886054146
|
|
NM_001362931.2(GDAP1):c.694+4057_694+4060dup
|
rs71563287
|
|
NM_001362931.2(GDAP1):c.694+4059_694+4060dup
|
rs71563287
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
NM_003680.4(YARS1):c.*305CA[1]
|
rs372462149
|
|
NM_003680.4(YARS1):c.*442AAAGG[1]
|
rs142185532
|
|
NM_003680.4(YARS1):c.982T>C (p.Phe328Leu)
|
rs1057515512
|
|
NM_018972.2(GDAP1):c.*2553dup
|
rs886063118
|
|
NM_018972.2(GDAP1):c.*2730_*2731insAAA
|
rs886063120
|
|
NM_018972.4(GDAP1):c.-51_-49del
|
rs201803887
|
|