|
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
|
rs775570414
|
0.00012
|
|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
0.00002
|
|
NM_000195.5(HPS1):c.398+2T>C
|
rs1486224265
|
0.00002
|
|
NM_000195.5(HPS1):c.1744-2A>C
|
rs281865088
|
0.00001
|
|
NM_000195.5(HPS1):c.1940+2T>C
|
rs972096803
|
0.00001
|
|
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter)
|
rs1846158787
|
0.00001
|
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
|
GRCh37/hg19 10q24.2(chr10:100202251-100203482)
|
|
|
|
NM_000195.4(HPS1):c.1602_1605delCCTA
|
|
|
|
NM_000195.5(HPS1):c.1065del (p.Asn356fs)
|
|
|
|
NM_000195.5(HPS1):c.1084del (p.Cys362fs)
|
|
|
|
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
|
|
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
|
NM_000195.5(HPS1):c.1198del (p.Asp400fs)
|
|
|
|
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)
|
|
|
|
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs)
|
rs1303126934
|
|
|
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)
|
|
|
|
NM_000195.5(HPS1):c.1335+1G>A
|
|
|
|
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)
|
rs1591045080
|
|
|
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
|
|
|
|
NM_000195.5(HPS1):c.141dup (p.Ser48fs)
|
|
|
|
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter)
|
rs552340796
|
|
|
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)
|
rs758028806
|
|
|
NM_000195.5(HPS1):c.1473dup (p.Ser492fs)
|
rs1278834481
|
|
|
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)
|
rs769446880
|
|
|
NM_000195.5(HPS1):c.1519dup (p.Gln507fs)
|
|
|
|
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
|
|
|
|
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)
|
rs748106098
|
|
|
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)
|
rs1591031929
|
|
|
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)
|
|
|
|
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)
|
|
|
|
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
|
|
|
|
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)
|
|
|
|
NM_000195.5(HPS1):c.1857+1G>A
|
rs2136102397
|
|
|
NM_000195.5(HPS1):c.1925del (p.Gly642fs)
|
rs2136083690
|
|
|
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
|
rs1239621485
|
|
|
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)
|
|
|
|
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)
|
rs121908385
|
|
|
NM_000195.5(HPS1):c.2001_2003delinsCCC (p.Leu668Pro)
|
|
|
|
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)
|
|
|
|
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)
|
rs1591002808
|
|
|
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
|
|
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
|
NM_000195.5(HPS1):c.238del (p.Leu80fs)
|
rs1453977337
|
|
|
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
|
|
|
|
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)
|
|
|
|
NM_000195.5(HPS1):c.398+2T>G
|
|
|
|
NM_000195.5(HPS1):c.399-14G>A
|
rs1260083432
|
|
|
NM_000195.5(HPS1):c.410del (p.Pro137fs)
|
|
|
|
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
|
|
|
|
NM_000195.5(HPS1):c.507+2T>G
|
rs1591109881
|
|
|
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)
|
rs1591093208
|
|
|
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
|
|
|
|
NM_000195.5(HPS1):c.595_601del (p.Pro199fs)
|
|
|
|
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)
|
|
|
|
NM_000195.5(HPS1):c.668+1G>A
|
|
|
|
NM_000195.5(HPS1):c.669-1G>C
|
|
|
|
NM_000195.5(HPS1):c.721del (p.Val241fs)
|
|
|
|
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
|
|
|
|
NM_000195.5(HPS1):c.769-14_834del
|
|
|
|
NM_000195.5(HPS1):c.780dup (p.Arg261fs)
|
rs2136197089
|
|
|
NM_000195.5(HPS1):c.807del (p.Val270fs)
|
|
|
|
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer)
|
rs1938751649
|
|
|
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)
|
|
|
|
NM_000195.5(HPS1):c.847_848delinsTA (p.Gly283Ter)
|
|
|
|
NM_000195.5(HPS1):c.852del (p.Ser285fs)
|
rs757883936
|
|
|
NM_000195.5(HPS1):c.875_878del (p.Asp292fs)
|
rs1846105381
|
|
|
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs)
|
|
|
|
NM_000195.5(HPS1):c.937+1G>A
|
|
|
|
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser)
|
rs962689701
|
|
|
NM_000195.5(HPS1):c.962del (p.Gly321fs)
|
rs281865081
|
|
|
NM_000195.5(HPS1):c.97_100del (p.Ser33fs)
|
rs2136327710
|
|
|
NM_000195.5(HPS1):c.987+1G>A
|
|
|
|
NM_000195.5(HPS1):c.988-44_1023delinsT
|
rs1591055649
|
|
|
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)
|
rs750909242
|
|