|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
|
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)
|
rs780183200
|
0.00003
|
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
0.00002
|
|
NM_000195.5(HPS1):c.398+2T>C
|
rs1486224265
|
0.00002
|
|
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)
|
rs756325364
|
0.00002
|
|
NM_032383.5(HPS3):c.2589+1G>T
|
rs281865095
|
0.00002
|
|
NM_000195.5(HPS1):c.1744-2A>C
|
rs281865088
|
0.00001
|
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
|
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)
|
rs201348482
|
0.00001
|
|
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu)
|
rs1478574193
|
0.00001
|
|
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)
|
rs121908316
|
0.00001
|
|
NM_032383.5(HPS3):c.2589+2T>C
|
rs1411572278
|
0.00001
|
|
NM_032383.5(HPS3):c.2796+2T>C
|
rs1476066527
|
0.00001
|
|
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
|
|
|
|
NM_000195.4(HPS1):c.1602_1605delCCTA
|
|
|
|
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)
|
rs1591045080
|
|
|
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
|
|
|
|
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
|
rs1239621485
|
|
|
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)
|
rs121908385
|
|
|
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)
|
rs1591002808
|
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
|
NM_000195.5(HPS1):c.238del (p.Leu80fs)
|
rs1453977337
|
|
|
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)
|
rs1591093208
|
|
|
NM_000195.5(HPS1):c.852del (p.Ser285fs)
|
rs757883936
|
|
|
NM_000195.5(HPS1):c.962del (p.Gly321fs)
|
rs281865081
|
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
|
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
|
|
|
|
NM_003664.5(AP3B1):c.1651-2A>T
|
|
|
|
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
|
|
|
|
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)
|
rs2140918991
|
|
|
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)
|
rs369053765
|
|
|
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
|
|
|
|
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter)
|
rs150216540
|
|
|
NM_022081.6(HPS4):c.1713+1G>A
|
rs2146534178
|
|
|
NM_022081.6(HPS4):c.276+5G>A
|
rs1602079277
|
|
|
NM_022081.6(HPS4):c.803+1G>A
|
|
|
|
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
|
|
|
|
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
|
|
|
|
NM_024747.6(HPS6):c.1649del (p.Gly550fs)
|
rs1590263820
|
|
|
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter)
|
rs1220869113
|
|
|
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
|
|
|
|
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
|
|
|
|
NM_024747.6(HPS6):c.229_232del (p.Ser77fs)
|
rs2136333814
|
|
|
NM_024747.6(HPS6):c.368del (p.Gly123fs)
|
|
|
|
NM_024747.6(HPS6):c.706_707del (p.Ser236fs)
|
rs756471925
|
|
|
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter)
|
rs2136334244
|
|
|
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
|
|
|
|
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)
|
rs1553750097
|
|
|
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)
|
rs1576695913
|
|
|
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
|
|
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
|
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter)
|
rs779921624
|
|
|
NM_181507.2(HPS5):c.2837+1G>A
|
|
|
|
NM_181507.2(HPS5):c.478-2A>G
|
|
|