NM_020751.3(COG6):c.94T>A (p.Cys32Ser)
|
rs3812883
|
0.43470
|
NM_020751.3(COG6):c.1009+9A>G
|
rs4129745
|
0.28442
|
NM_020751.3(COG6):c.1074+18T>C
|
rs9548882
|
0.20795
|
NM_020751.3(COG6):c.1340T>C (p.Met447Thr)
|
rs41286961
|
0.05379
|
NM_020751.3(COG6):c.1693-6A>T
|
rs78336861
|
0.03077
|
NM_020751.3(COG6):c.898C>T (p.His300Tyr)
|
rs34555836
|
0.01351
|
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile)
|
rs114044193
|
0.00750
|
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)
|
rs34623774
|
0.00327
|
NM_020751.3(COG6):c.1693-7_1693-6del
|
rs1491507046
|
0.00273
|
NM_020751.3(COG6):c.729C>T (p.Asp243=)
|
rs117688574
|
0.00218
|
NM_020751.3(COG6):c.1308T>G (p.Leu436=)
|
rs61754105
|
0.00118
|
NM_020751.3(COG6):c.1947G>A (p.Pro649=)
|
rs147311831
|
0.00069
|
NM_020751.3(COG6):c.370-18A>G
|
rs184193902
|
0.00043
|
NM_020751.3(COG6):c.369+13G>A
|
rs368677211
|
0.00042
|
NM_020751.3(COG6):c.-21_-20insC
|
rs746938820
|
0.00041
|
NM_020751.3(COG6):c.1233A>G (p.Lys411=)
|
rs201806513
|
0.00035
|
NM_020751.3(COG6):c.1075-12A>C
|
rs370228676
|
0.00016
|
NM_020751.3(COG6):c.69G>A (p.Gly23=)
|
rs372786424
|
0.00003
|
NM_020751.3(COG6):c.668A>G (p.Tyr223Cys)
|
rs770529508
|
0.00002
|
NM_020751.3(COG6):c.315C>T (p.Ser105=)
|
rs767854952
|
0.00001
|
GRCh37/hg19 13q14.11(chr13:40327812-40380478)
|
|
|
NM_020751.3(COG6):c.*3A>T
|
rs371476957
|
|
NM_020751.3(COG6):c.-17dup
|
rs67765306
|
|
NM_020751.3(COG6):c.-41G>C
|
rs188328396
|
|
NM_020751.3(COG6):c.1284+19A>T
|
rs1057524078
|
|
NM_020751.3(COG6):c.153+11C>A
|
rs371609631
|
|
NM_020751.3(COG6):c.1693-13T>C
|
rs1057521781
|
|
NM_020751.3(COG6):c.1693-4del
|
rs66629036
|
|
NM_020751.3(COG6):c.1826+14G>A
|
rs1169729431
|
|
NM_020751.3(COG6):c.258C>T (p.Ile86=)
|
rs1555273437
|
|
NM_020751.3(COG6):c.28G>A (p.Ala10Thr)
|
rs3812882
|
|
NM_020751.3(COG6):c.624-3dup
|
rs397756552
|
|
NM_020751.3(COG6):c.855C>T (p.Leu285=)
|
rs544831978
|
|
NM_020751.3(COG6):c.917G>T (p.Arg306Met)
|
rs1057518132
|
|