NM_181507.2(HPS5):c.822C>A (p.Leu274=)
|
rs1140047
|
0.72384
|
NM_181507.2(HPS5):c.1511-30G>A
|
rs2305565
|
0.58312
|
NM_181507.2(HPS5):c.*464C>A
|
rs1046611
|
0.35745
|
NM_181507.2(HPS5):c.*475C>T
|
rs1046615
|
0.33956
|
NM_181507.2(HPS5):c.*299C>T
|
rs12419588
|
0.33793
|
NM_181507.2(HPS5):c.*300T>C
|
rs12416821
|
0.33782
|
NM_181507.2(HPS5):c.3058+9A>G
|
rs2049129
|
0.20713
|
NM_181507.2(HPS5):c.*804C>T
|
rs1046628
|
0.17195
|
NM_181507.2(HPS5):c.1165-15C>A
|
rs7128146
|
0.13983
|
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met)
|
rs7128017
|
0.13791
|
NM_181507.2(HPS5):c.*1068T>A
|
rs112456564
|
0.02934
|
NM_181507.2(HPS5):c.*443T>A
|
rs74602396
|
0.02922
|
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)
|
rs61884288
|
0.02435
|
NM_181507.2(HPS5):c.1785-13C>T
|
rs73430857
|
0.02128
|
NM_181507.2(HPS5):c.139T>C (p.Leu47=)
|
rs73432728
|
0.02127
|
NM_181507.2(HPS5):c.*702A>T
|
rs79086536
|
0.01805
|
NM_181507.2(HPS5):c.2441-8T>C
|
rs144196437
|
0.00708
|
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile)
|
rs61755718
|
0.00512
|
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)
|
rs143784823
|
0.00417
|
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu)
|
rs144875223
|
0.00297
|
NM_181507.2(HPS5):c.1609G>T (p.Val537Leu)
|
rs149677540
|
0.00276
|
NM_181507.2(HPS5):c.1635-4C>G
|
rs79009787
|
0.00184
|
NM_181507.2(HPS5):c.309A>G (p.Glu103=)
|
rs77722090
|
0.00163
|
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)
|
rs17853184
|
0.00144
|
NM_181507.2(HPS5):c.2562-14G>C
|
rs199999276
|
0.00107
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
NM_181507.2(HPS5):c.*70C>T
|
rs371535842
|
0.00087
|
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp)
|
rs75482179
|
0.00056
|
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)
|
rs147430035
|
0.00047
|
NM_181507.2(HPS5):c.986-5C>T
|
rs201439984
|
0.00036
|
NM_181507.2(HPS5):c.2721A>G (p.Ser907=)
|
rs139795577
|
0.00032
|
NM_181507.2(HPS5):c.1692T>C (p.Pro564=)
|
rs150590027
|
0.00028
|
NM_181507.2(HPS5):c.*812A>C
|
rs755078355
|
0.00027
|
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)
|
rs149039105
|
0.00025
|
NM_181507.2(HPS5):c.*688A>G
|
rs145507598
|
0.00024
|
NM_181507.2(HPS5):c.*95C>A
|
rs776484868
|
0.00023
|
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg)
|
rs149564550
|
0.00023
|
NM_181507.2(HPS5):c.*362G>A
|
rs148862838
|
0.00021
|
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys)
|
rs143204089
|
0.00019
|
NM_181507.2(HPS5):c.3297C>T (p.Cys1099=)
|
rs139039126
|
0.00019
|
NM_181507.2(HPS5):c.*182C>T
|
rs886048074
|
0.00016
|
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
|
rs142793392
|
0.00015
|
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe)
|
rs149512871
|
0.00014
|
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr)
|
rs147413884
|
0.00012
|
NM_181507.2(HPS5):c.1012A>C (p.Asn338His)
|
rs144134556
|
0.00010
|
NM_181507.2(HPS5):c.2247A>G (p.Val749=)
|
rs139004989
|
0.00009
|
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr)
|
rs371346921
|
0.00008
|
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)
|
rs781166596
|
0.00008
|
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
|
rs200704721
|
0.00007
|
NM_181507.2(HPS5):c.240C>T (p.Val80=)
|
rs138423875
|
0.00006
|
NM_181507.2(HPS5):c.2521G>T (p.Val841Phe)
|
rs142090060
|
0.00006
|
NM_181507.2(HPS5):c.285-10A>G
|
rs200449378
|
0.00006
|
NM_181507.2(HPS5):c.*157G>A
|
rs916119305
|
0.00005
|
NM_181507.2(HPS5):c.2461G>T (p.Val821Leu)
|
rs373228021
|
0.00005
|
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)
|
rs754189788
|
0.00004
|
NM_181507.2(HPS5):c.535G>A (p.Val179Ile)
|
rs373277149
|
0.00004
|
NM_181507.2(HPS5):c.1075C>T (p.Arg359Cys)
|
rs143073506
|
0.00003
|
NM_181507.2(HPS5):c.1496C>T (p.Ser499Leu)
|
rs756408229
|
0.00003
|
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)
|
rs139349345
|
0.00003
|
NM_181507.2(HPS5):c.3059-10G>A
|
rs764418389
|
0.00003
|
NM_181507.2(HPS5):c.1076G>A (p.Arg359His)
|
rs774619545
|
0.00002
|
NM_181507.2(HPS5):c.1862+1G>A
|
rs778500897
|
0.00002
|
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu)
|
rs747733616
|
0.00002
|
NM_181507.2(HPS5):c.543del (p.Gln181fs)
|
rs755827664
|
0.00002
|
NM_181507.2(HPS5):c.*1023T>G
|
rs886048069
|
0.00001
|
NM_181507.2(HPS5):c.*276T>G
|
rs146958457
|
0.00001
|
NM_181507.2(HPS5):c.*469A>G
|
rs1858594870
|
0.00001
|
NM_181507.2(HPS5):c.*839T>C
|
rs537810532
|
0.00001
|
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
|
rs547880287
|
0.00001
|
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly)
|
rs747748271
|
0.00001
|
NM_181507.2(HPS5):c.1475T>A (p.Leu492Gln)
|
rs190883305
|
0.00001
|
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val)
|
rs370396275
|
0.00001
|
NM_181507.2(HPS5):c.1803T>C (p.Thr601=)
|
rs762327635
|
0.00001
|
NM_181507.2(HPS5):c.1837C>A (p.Leu613Ile)
|
rs190221223
|
0.00001
|
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly)
|
rs564959505
|
0.00001
|
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg)
|
rs763599072
|
0.00001
|
NM_181507.2(HPS5):c.2593C>T (p.Arg865Ter)
|
rs281865104
|
0.00001
|
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp)
|
rs775281184
|
0.00001
|
NM_181507.2(HPS5):c.2838-13T>C
|
rs377293025
|
0.00001
|
NM_181507.2(HPS5):c.3076G>A (p.Val1026Met)
|
rs369368194
|
0.00001
|
NM_181507.2(HPS5):c.3214G>A (p.Ala1072Thr)
|
rs886048075
|
0.00001
|
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)
|
rs773390398
|
0.00001
|
NM_181507.2(HPS5):c.3259C>T (p.Leu1087=)
|
rs868410563
|
0.00001
|
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln)
|
rs974587263
|
0.00001
|
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro)
|
rs764296457
|
0.00001
|
NM_181507.2(HPS5):c.755G>A (p.Gly252Glu)
|
rs755846129
|
0.00001
|
11p15.1 deletion
|
|
|
NM_181507.2(HPS5):c.*1201A>G
|
rs1858510966
|
|
NM_181507.2(HPS5):c.*655A>C
|
rs886048073
|
|
NM_181507.2(HPS5):c.*956T>G
|
rs886048072
|
|
NM_181507.2(HPS5):c.*960T>A
|
rs886048071
|
|
NM_181507.2(HPS5):c.1032C>T (p.His344=)
|
rs1385130088
|
|
NM_181507.2(HPS5):c.107del (p.Lys36fs)
|
rs1554948134
|
|
NM_181507.2(HPS5):c.1123C>G (p.Arg375Gly)
|
rs761598432
|
|
NM_181507.2(HPS5):c.1324-32dup
|
rs369116404
|
|
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter)
|
rs1131692148
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
NM_181507.2(HPS5):c.1479A>G (p.Pro493=)
|
rs886048081
|
|
NM_181507.2(HPS5):c.1510+3G>A
|
rs886048080
|
|
NM_181507.2(HPS5):c.1549A>C (p.Lys517Gln)
|
rs770838422
|
|
NM_181507.2(HPS5):c.163G>A (p.Gly55Arg)
|
rs774361456
|
|
NM_181507.2(HPS5):c.1785-9C>A
|
rs886048079
|
|
NM_181507.2(HPS5):c.1900del (p.Glu634fs)
|
rs1131692146
|
|
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs)
|
rs281865103
|
|
NM_181507.2(HPS5):c.2058A>G (p.Glu686=)
|
rs1860442520
|
|
NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln)
|
|
|
NM_181507.2(HPS5):c.2077del (p.Arg693fs)
|
rs746844529
|
|
NM_181507.2(HPS5):c.2144A>G (p.Glu715Gly)
|
rs886048078
|
|
NM_181507.2(HPS5):c.219G>A (p.Arg73=)
|
rs1131692150
|
|
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser)
|
rs1131692149
|
|
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
|
|
|
NM_181507.2(HPS5):c.260A>T (p.Asp87Val)
|
rs886048083
|
|
NM_181507.2(HPS5):c.2624del (p.Leu875fs)
|
rs281865105
|
|
NM_181507.2(HPS5):c.2659C>A (p.Pro887Thr)
|
|
|
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs)
|
rs1131692151
|
|
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs)
|
rs397507169
|
|
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)
|
rs886041723
|
|
NM_181507.2(HPS5):c.3058+3A>G
|
rs113304476
|
|
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del)
|
rs753928208
|
|
NM_181507.2(HPS5):c.406C>G (p.Leu136Val)
|
rs2134473815
|
|
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro)
|
rs1590156657
|
|
NM_181507.2(HPS5):c.818_822del (p.Thr273fs)
|
rs1131692147
|
|
NM_181507.2(HPS5):c.879dup (p.Lys294fs)
|
rs281865101
|
|
NM_181507.2(HPS5):c.885C>T (p.Leu295=)
|
rs369851648
|
|