NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
NM_152419.3(HGSNAT):c.*1801T>C
|
rs3739431
|
0.87926
|
NM_152419.3(HGSNAT):c.371+82C>T
|
rs10958738
|
0.72852
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
NM_152419.3(HGSNAT):c.*1216G>A
|
rs73569597
|
0.04598
|
NM_152419.3(HGSNAT):c.*1780C>T
|
rs1058608
|
0.04517
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_152419.3(HGSNAT):c.*1231G>A
|
rs61743005
|
0.03511
|
NM_152419.3(HGSNAT):c.*585T>C
|
rs73675470
|
0.02497
|
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile)
|
rs73675469
|
0.02491
|
NM_152419.3(HGSNAT):c.1727-9C>G
|
rs76750342
|
0.01160
|
NM_152419.3(HGSNAT):c.*733G>T
|
rs139144727
|
0.00863
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_152419.3(HGSNAT):c.*477G>A
|
rs76878005
|
0.00567
|
NM_152419.3(HGSNAT):c.*1212C>T
|
rs186132187
|
0.00506
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_152419.3(HGSNAT):c.234+14C>G
|
rs146429523
|
0.00245
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu)
|
rs200505085
|
0.00063
|
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)
|
rs147251143
|
0.00019
|
NM_152419.3(HGSNAT):c.493+13T>A
|
rs201688937
|
0.00019
|
NM_152419.3(HGSNAT):c.821-28T>C
|
rs201415703
|
0.00014
|
NM_152419.3(HGSNAT):c.1542+20C>T
|
rs548171657
|
0.00003
|
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)
|
rs200416815
|
0.00003
|
NM_152419.3(HGSNAT):c.*1086G>C
|
rs145370743
|
|
NM_152419.3(HGSNAT):c.*1942A>G
|
rs112626858
|
|
NM_152419.3(HGSNAT):c.*2755C>T
|
rs76686222
|
|
NM_152419.3(HGSNAT):c.*600C>T
|
rs377372501
|
|
NM_152419.3(HGSNAT):c.1129-7dup
|
|
|
NM_152419.3(HGSNAT):c.1250+19dup
|
|
|
NM_152419.3(HGSNAT):c.1251-12del
|
|
|
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=)
|
rs199816365
|
|
NM_152419.3(HGSNAT):c.564-4dup
|
rs748560542
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|