NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=)
|
rs3737289
|
0.40290
|
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)
|
rs7025532
|
0.18911
|
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=)
|
rs11145366
|
0.10477
|
NM_033305.3(VPS13A):c.6880-19G>C
|
rs183040221
|
0.00852
|
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
|
rs117983287
|
0.00817
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=)
|
rs146280301
|
0.00643
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)
|
rs138687767
|
0.00582
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr)
|
rs138308486
|
0.00517
|
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=)
|
rs143089318
|
0.00488
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=)
|
rs73467954
|
0.00400
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=)
|
rs73466090
|
0.00324
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg)
|
rs145686832
|
0.00026
|
NM_033305.3(VPS13A):c.6379-19T>G
|
rs766881111
|
0.00021
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe)
|
rs147115148
|
0.00011
|
NM_033305.3(VPS13A):c.398C>T (p.Pro133Leu)
|
rs202090510
|
0.00009
|
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu)
|
rs755454094
|
0.00006
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
GRCh37/hg19 9q21.2(chr9:79913793-80029790)
|
|
|
NM_033305.3(VPS13A):c.1498G>A (p.Val500Ile)
|
rs776549674
|
|
NM_033305.3(VPS13A):c.1596-8dup
|
rs748907586
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[10]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[12]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9311A>G (p.Gln3104Arg)
|
rs1554681451
|
|
NM_033305.3(VPS13A):c.989+28dup
|
rs751974264
|
|