NM_000195.5(HPS1):c.636C>T (p.Leu212=)
|
rs1801287
|
0.25851
|
NM_000195.5(HPS1):c.1599-15A>G
|
rs2296435
|
0.21496
|
NM_000195.5(HPS1):c.1397+7G>C
|
rs2296432
|
0.20947
|
NM_000195.5(HPS1):c.1397+8G>T
|
rs2296433
|
0.20935
|
NM_000195.5(HPS1):c.399-35G>A
|
rs11591594
|
0.12488
|
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)
|
rs2296436
|
0.09989
|
NM_000195.5(HPS1):c.1335+48G>A
|
rs41317034
|
0.09953
|
NM_000195.5(HPS1):c.297C>T (p.Thr99=)
|
rs11539873
|
0.04930
|
NM_000195.5(HPS1):c.987+13T>C
|
rs12571249
|
0.04438
|
NM_000195.5(HPS1):c.11T>C (p.Val4Ala)
|
rs58548334
|
0.03653
|
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)
|
rs148450315
|
0.00596
|
NM_000195.5(HPS1):c.597C>T (p.Pro199=)
|
rs113520308
|
0.00382
|
NM_000195.5(HPS1):c.*12C>T
|
rs112544050
|
0.00352
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)
|
rs116143727
|
0.00193
|
NM_000195.5(HPS1):c.678C>T (p.Ala226=)
|
rs539822608
|
0.00155
|
NM_000195.5(HPS1):c.680G>T (p.Ser227Ile)
|
rs548033666
|
0.00155
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
NM_000195.5(HPS1):c.669-17T>C
|
rs201014731
|
0.00143
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)
|
rs201808262
|
0.00076
|
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu)
|
rs142934882
|
0.00068
|
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser)
|
rs116698870
|
0.00049
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
NM_000195.5(HPS1):c.1887C>T (p.Pro629=)
|
rs142347792
|
0.00036
|
NM_000195.5(HPS1):c.1599-7C>A
|
rs746169154
|
0.00010
|
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys)
|
rs375322422
|
0.00009
|
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp)
|
rs3830014
|
0.00009
|
NM_000195.5(HPS1):c.447C>T (p.Phe149=)
|
rs564896584
|
0.00006
|
NM_000195.5(HPS1):c.695C>T (p.Ala232Val)
|
rs764420988
|
0.00006
|
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
NM_000195.5(HPS1):c.1167G>A (p.Ala389=)
|
rs775117501
|
0.00004
|
NM_000195.5(HPS1):c.598G>A (p.Glu200Lys)
|
rs370788424
|
0.00004
|
NM_000195.5(HPS1):c.9C>T (p.Cys3=)
|
rs750909242
|
0.00004
|
NM_000195.5(HPS1):c.924C>T (p.Gly308=)
|
rs747955942
|
0.00003
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
0.00002
|
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)
|
rs576260502
|
0.00002
|
NM_000195.5(HPS1):c.1057C>T (p.Leu353=)
|
rs200850713
|
0.00001
|
NM_000195.5(HPS1):c.1858-5C>T
|
rs371601664
|
0.00001
|
NM_000195.5(HPS1):c.1940+2T>C
|
rs972096803
|
0.00001
|
NM_000195.5(HPS1):c.1131C>T (p.Gly377=)
|
|
|
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT
|
rs886038270
|
|
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)
|
rs2296434
|
|
NM_000195.5(HPS1):c.1527C>G (p.Leu509=)
|
rs17109850
|
|
NM_000195.5(HPS1):c.1940+10C>T
|
rs1236633468
|
|
NM_000195.5(HPS1):c.2052C>A (p.Ala684=)
|
rs576260502
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
NM_000195.5(HPS1):c.808G>A (p.Val270Met)
|
rs145364430
|
|
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg)
|
rs11592273
|
|
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)
|
rs11592273
|
|
NM_000195.5(HPS1):c.937+55G>A
|
|
|