NM_033109.5(PNPT1):c.1285-207G>T
|
rs2586951
|
0.94217
|
NM_033109.5(PNPT1):c.977-228A>G
|
rs782636
|
0.94091
|
NM_033109.5(PNPT1):c.1495+219G>A
|
rs782569
|
0.94054
|
NM_033109.5(PNPT1):c.918+201T>C
|
rs2627771
|
0.93905
|
NM_033109.5(PNPT1):c.1247+29C>T
|
rs782604
|
0.93874
|
NM_033109.5(PNPT1):c.867-47T>A
|
rs782631
|
0.92991
|
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)
|
rs2627765
|
0.48848
|
NM_033109.5(PNPT1):c.1738+93A>T
|
rs2627776
|
0.45619
|
NM_033109.5(PNPT1):c.1074-200C>T
|
rs12329050
|
0.45616
|
NM_033109.5(PNPT1):c.1738+179C>T
|
rs2627777
|
0.45595
|
NM_033109.5(PNPT1):c.680-69T>C
|
rs782629
|
0.45260
|
NM_033109.5(PNPT1):c.867-244A>G
|
rs782630
|
0.45253
|
NM_033109.5(PNPT1):c.976+251T>C
|
rs782633
|
0.45238
|
NM_033109.5(PNPT1):c.976+164G>C
|
rs782632
|
0.45229
|
NM_033109.5(PNPT1):c.1074-19A>G
|
rs782637
|
0.45197
|
NM_033109.5(PNPT1):c.680-245T>C
|
rs2627773
|
0.45118
|
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val)
|
rs782572
|
0.44915
|
NM_033109.5(PNPT1):c.222+159A>G
|
rs809732
|
0.44900
|
NM_033109.5(PNPT1):c.918+200G>A
|
rs2627772
|
0.44667
|
NM_033109.5(PNPT1):c.1284+116A>G
|
rs7592219
|
0.30598
|
NM_033109.5(PNPT1):c.2070-98T>C
|
rs34679603
|
0.30501
|
NM_033109.5(PNPT1):c.1177-305C>T
|
rs13013133
|
0.29792
|
NM_033109.5(PNPT1):c.1738+9G>C
|
rs7584120
|
0.18938
|
NM_033109.5(PNPT1):c.1285-227G>T
|
rs17800203
|
0.18697
|
NM_033109.5(PNPT1):c.453+210A>G
|
rs7586366
|
0.15545
|
NM_033109.5(PNPT1):c.1284+421C>T
|
rs6725101
|
0.14914
|
NM_033109.5(PNPT1):c.1907-267T>C
|
rs13383352
|
0.14833
|
NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp)
|
rs7594497
|
0.14820
|
NM_033109.5(PNPT1):c.1496-223G>A
|
rs12616982
|
0.14777
|
NM_033109.5(PNPT1):c.1822+225A>G
|
rs12623293
|
0.12276
|
NM_033109.5(PNPT1):c.1176+36T>C
|
rs13009649
|
0.11856
|
NM_033109.5(PNPT1):c.977-212A>G
|
rs12993839
|
0.11716
|
NM_033109.5(PNPT1):c.1907-137A>G
|
rs13015243
|
0.11086
|
NM_033109.5(PNPT1):c.297+233del
|
rs35071585
|
0.08269
|
NM_033109.5(PNPT1):c.1177-293C>T
|
rs56071955
|
0.08264
|
NM_033109.5(PNPT1):c.161+135A>G
|
rs62165235
|
0.05391
|
NM_033109.5(PNPT1):c.1738+271G>A
|
rs112074939
|
0.04139
|
NM_033109.5(PNPT1):c.161+49G>A
|
rs73942924
|
0.04048
|
NM_033109.5(PNPT1):c.565+90C>T
|
rs17744399
|
0.03929
|
NM_033109.5(PNPT1):c.1074-228C>T
|
rs114135308
|
0.03385
|
NM_033109.5(PNPT1):c.1602+150A>G
|
rs114335719
|
0.03309
|
NM_033109.5(PNPT1):c.1074-15C>T
|
rs76693423
|
0.03200
|
NM_033109.5(PNPT1):c.1739-150A>G
|
rs72805490
|
0.02861
|
NM_033109.5(PNPT1):c.1738+37C>G
|
rs72805494
|
0.02849
|
NM_033109.5(PNPT1):c.679+265A>G
|
rs145458797
|
0.02775
|
NM_033109.5(PNPT1):c.223-65G>T
|
rs72807624
|
0.02665
|
NM_033109.5(PNPT1):c.1823-221C>T
|
rs113277272
|
0.02606
|
NM_033109.5(PNPT1):c.*71T>C
|
rs72930820
|
0.02604
|
NM_033109.5(PNPT1):c.1602+189T>A
|
rs72930831
|
0.02601
|
NM_033109.5(PNPT1):c.1823-226C>T
|
rs113782020
|
0.02598
|
NM_033109.5(PNPT1):c.2149-304C>A
|
rs112812946
|
0.02573
|
NM_033109.5(PNPT1):c.297+37T>A
|
rs143717902
|
0.01361
|
NM_033109.5(PNPT1):c.2197-62A>G
|
rs113275808
|
0.01204
|
NM_033109.5(PNPT1):c.2196+284G>A
|
rs141410243
|
0.00933
|
NM_033109.5(PNPT1):c.1284+217T>C
|
rs115106726
|
0.00860
|
NM_033109.5(PNPT1):c.1442-159T>A
|
rs190655176
|
0.00794
|
NM_033109.5(PNPT1):c.453+246C>T
|
rs145732469
|
0.00788
|
NM_033109.5(PNPT1):c.1177-175T>C
|
rs80188963
|
0.00728
|
NM_033109.5(PNPT1):c.2070-5T>C
|
rs145739483
|
0.00699
|
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=)
|
rs146111948
|
0.00507
|
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg)
|
rs35405862
|
0.00492
|
NM_033109.5(PNPT1):c.297+299C>T
|
rs190688070
|
0.00377
|
NM_033109.5(PNPT1):c.1285-59A>G
|
rs192366640
|
0.00341
|
NM_033109.5(PNPT1):c.906C>T (p.Tyr302=)
|
rs149239772
|
0.00318
|
NM_033109.5(PNPT1):c.566-6T>C
|
rs190658831
|
0.00311
|
NM_033109.5(PNPT1):c.*159T>A
|
rs568249156
|
0.00307
|
NM_033109.5(PNPT1):c.1074-4A>T
|
rs146742085
|
0.00287
|
NM_033109.5(PNPT1):c.918+38A>G
|
rs192702436
|
0.00281
|
NM_033109.5(PNPT1):c.852G>C (p.Val284=)
|
rs139091915
|
0.00259
|
NM_033109.5(PNPT1):c.1073+139C>T
|
rs185893564
|
0.00234
|
NM_033109.5(PNPT1):c.2197-35G>C
|
rs57254503
|
0.00222
|
NM_033109.5(PNPT1):c.1442-44A>T
|
rs140059234
|
0.00210
|
NM_033109.5(PNPT1):c.679+49C>G
|
rs112396033
|
0.00210
|
NM_033109.5(PNPT1):c.862C>T (p.His288Tyr)
|
rs141543222
|
0.00157
|
NM_033109.5(PNPT1):c.1074-41T>A
|
rs72807607
|
0.00149
|
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)
|
rs34928857
|
0.00131
|
NM_033109.5(PNPT1):c.412A>G (p.Ile138Val)
|
rs76401964
|
0.00111
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_033109.5(PNPT1):c.1632C>T (p.Asp544=)
|
rs146554440
|
0.00083
|
NM_033109.5(PNPT1):c.1938G>A (p.Thr646=)
|
rs201681772
|
0.00078
|
NM_033109.5(PNPT1):c.161+6G>C
|
rs146068304
|
0.00056
|
NM_033109.5(PNPT1):c.223-9A>T
|
rs202243908
|
0.00054
|
NM_033109.5(PNPT1):c.298-10G>T
|
rs376098570
|
0.00045
|
NM_033109.5(PNPT1):c.2149-18T>A
|
rs142979302
|
0.00042
|
NM_033109.5(PNPT1):c.1248-16T>C
|
rs374813287
|
0.00041
|
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)
|
rs149843729
|
0.00038
|
NM_033109.5(PNPT1):c.2149-11T>G
|
rs138300494
|
0.00036
|
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe)
|
rs142840568
|
0.00029
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr)
|
rs147375807
|
0.00026
|
NM_033109.5(PNPT1):c.1929T>C (p.Asp643=)
|
rs149102879
|
0.00019
|
NM_033109.5(PNPT1):c.2148+6A>T
|
rs374690825
|
0.00018
|
NM_033109.5(PNPT1):c.1907G>A (p.Gly636Asp)
|
rs143197548
|
0.00014
|
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)
|
rs202190573
|
0.00010
|
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)
|
rs199712282
|
0.00010
|
NM_033109.5(PNPT1):c.1189G>A (p.Val397Ile)
|
rs200016391
|
0.00009
|
NM_033109.5(PNPT1):c.2149-19T>C
|
rs370060385
|
0.00009
|
NM_033109.5(PNPT1):c.516C>T (p.Gly172=)
|
rs372627112
|
0.00009
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln)
|
rs542676905
|
0.00008
|
NM_033109.5(PNPT1):c.1495+12A>G
|
rs368159642
|
0.00007
|
NM_033109.5(PNPT1):c.397A>G (p.Ile133Val)
|
rs756714219
|
0.00007
|
NM_033109.5(PNPT1):c.789A>G (p.Val263=)
|
rs76180666
|
0.00007
|
NM_033109.5(PNPT1):c.1834G>T (p.Val612Phe)
|
rs752148258
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu)
|
rs752759589
|
0.00006
|
NM_033109.5(PNPT1):c.1471G>A (p.Gly491Arg)
|
rs772291464
|
0.00005
|
NM_033109.5(PNPT1):c.1496-10C>T
|
rs372005055
|
0.00004
|
NM_033109.5(PNPT1):c.1583G>A (p.Arg528His)
|
rs367713105
|
0.00004
|
NM_033109.5(PNPT1):c.1725T>C (p.Ile575=)
|
rs574251894
|
0.00004
|
NM_033109.5(PNPT1):c.1982G>A (p.Arg661Lys)
|
rs201269381
|
0.00004
|
NM_033109.5(PNPT1):c.472G>T (p.Ala158Ser)
|
rs766919363
|
0.00004
|
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala)
|
rs752666494
|
0.00003
|
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=)
|
rs754237697
|
0.00003
|
NM_033109.5(PNPT1):c.1756T>C (p.Leu586=)
|
rs750328203
|
0.00003
|
NM_033109.5(PNPT1):c.2224G>A (p.Asp742Asn)
|
rs187750584
|
0.00003
|
NM_033109.5(PNPT1):c.419C>T (p.Pro140Leu)
|
rs572684828
|
0.00003
|
NM_033109.5(PNPT1):c.649G>A (p.Val217Met)
|
rs758922668
|
0.00003
|
NM_033109.5(PNPT1):c.673C>G (p.Gln225Glu)
|
rs891974446
|
0.00003
|
NM_033109.5(PNPT1):c.1074-12A>G
|
rs374508862
|
0.00002
|
NM_033109.5(PNPT1):c.1284+10A>C
|
rs780025637
|
0.00002
|
NM_033109.5(PNPT1):c.1442-4A>G
|
rs1027454741
|
0.00002
|
NM_033109.5(PNPT1):c.1907-17C>T
|
rs771144492
|
0.00002
|
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg)
|
rs1318691269
|
0.00002
|
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val)
|
rs145552327
|
0.00002
|
NM_033109.5(PNPT1):c.466C>G (p.Leu156Val)
|
rs779832293
|
0.00002
|
NM_033109.5(PNPT1):c.575G>A (p.Arg192Gln)
|
rs772153760
|
0.00002
|
NM_033109.5(PNPT1):c.680-10C>T
|
rs1553499878
|
0.00002
|
NM_033109.5(PNPT1):c.1022A>G (p.Asn341Ser)
|
rs759908051
|
0.00001
|
NM_033109.5(PNPT1):c.1176+41A>T
|
rs375449448
|
0.00001
|
NM_033109.5(PNPT1):c.1357C>T (p.Leu453Phe)
|
rs141173235
|
0.00001
|
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly)
|
rs200088200
|
0.00001
|
NM_033109.5(PNPT1):c.1470C>T (p.Gly490=)
|
rs773370891
|
0.00001
|
NM_033109.5(PNPT1):c.1758A>C (p.Leu586Phe)
|
rs767387569
|
0.00001
|
NM_033109.5(PNPT1):c.192C>G (p.Ala64=)
|
rs748159230
|
0.00001
|
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)
|
rs574670461
|
0.00001
|
NM_033109.5(PNPT1):c.2261C>T (p.Ser754Leu)
|
rs756689143
|
0.00001
|
NM_033109.5(PNPT1):c.298-13A>G
|
rs368942791
|
0.00001
|
NM_033109.5(PNPT1):c.418C>T (p.Pro140Ser)
|
rs771597979
|
0.00001
|
NM_033109.5(PNPT1):c.423C>T (p.Leu141=)
|
rs777911727
|
0.00001
|
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr)
|
rs774425075
|
0.00001
|
NM_033109.5(PNPT1):c.977-4A>G
|
rs778656630
|
0.00001
|
GRCh37/hg19 2p16.1(chr2:55910769-55921261)x3
|
|
|
GRCh37/hg19 2p16.1(chr2:55910804-55921261)x3
|
|
|
NM_033109.4(PNPT1):c.-48G>A
|
rs747523552
|
|
NM_033109.5(PNPT1):c.*11dup
|
rs35916020
|
|
NM_033109.5(PNPT1):c.*260_*261del
|
rs3069394
|
|
NM_033109.5(PNPT1):c.*298TAGA[1]
|
rs3838524
|
|
NM_033109.5(PNPT1):c.1066T>C (p.Tyr356His)
|
rs2104109848
|
|
NM_033109.5(PNPT1):c.1073+276del
|
rs61218984
|
|
NM_033109.5(PNPT1):c.1141C>T (p.His381Tyr)
|
rs267599414
|
|
NM_033109.5(PNPT1):c.1149A>G (p.Ser383=)
|
rs1057521830
|
|
NM_033109.5(PNPT1):c.1174_1175del (p.Gln392fs)
|
rs1064793593
|
|
NM_033109.5(PNPT1):c.1175A>C (p.Gln392Pro)
|
|
|
NM_033109.5(PNPT1):c.1176+7T>C
|
rs1057522265
|
|
NM_033109.5(PNPT1):c.1176+7del
|
rs781277694
|
|
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile)
|
rs551750608
|
|
NM_033109.5(PNPT1):c.1251G>T (p.Gly417=)
|
rs146111948
|
|
NM_033109.5(PNPT1):c.1284+131del
|
rs145132253
|
|
NM_033109.5(PNPT1):c.1374G>A (p.Leu458=)
|
rs1572809030
|
|
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val)
|
rs767310806
|
|
NM_033109.5(PNPT1):c.1495+55_1495+80del
|
rs148083902
|
|
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=)
|
rs863224169
|
|
NM_033109.5(PNPT1):c.1603-291_1603-288del
|
rs56340299
|
|
NM_033109.5(PNPT1):c.162-289del
|
rs139811313
|
|
NM_033109.5(PNPT1):c.162-298dup
|
rs139811313
|
|
NM_033109.5(PNPT1):c.1674+20del
|
rs149526231
|
|
NM_033109.5(PNPT1):c.1717G>C (p.Glu573Gln)
|
|
|
NM_033109.5(PNPT1):c.1846A>G (p.Lys616Glu)
|
|
|
NM_033109.5(PNPT1):c.1906+10delinsCAT
|
rs1064795243
|
|
NM_033109.5(PNPT1):c.1907-314del
|
rs56391931
|
|
NM_033109.5(PNPT1):c.1913C>T (p.Thr638Ile)
|
rs375324746
|
|
NM_033109.5(PNPT1):c.1960C>T (p.Pro654Ser)
|
rs765801538
|
|
NM_033109.5(PNPT1):c.2039C>T (p.Ala680Val)
|
rs1402295663
|
|
NM_033109.5(PNPT1):c.2043A>G (p.Val681=)
|
rs544405485
|
|
NM_033109.5(PNPT1):c.2058A>C (p.Ile686=)
|
rs1572795877
|
|
NM_033109.5(PNPT1):c.2070-16A>C
|
rs768971285
|
|
NM_033109.5(PNPT1):c.2105T>C (p.Met702Thr)
|
|
|
NM_033109.5(PNPT1):c.2149-13dup
|
rs532500568
|
|
NM_033109.5(PNPT1):c.222+196dup
|
rs11386711
|
|
NM_033109.5(PNPT1):c.223-13C>G
|
rs200156764
|
|
NM_033109.5(PNPT1):c.223-13C>T
|
rs200156764
|
|
NM_033109.5(PNPT1):c.223-1G>A
|
|
|
NM_033109.5(PNPT1):c.2259G>T (p.Gln753His)
|
|
|
NM_033109.5(PNPT1):c.2298_2300del (p.Arg766del)
|
|
|
NM_033109.5(PNPT1):c.299T>G (p.Val100Gly)
|
|
|
NM_033109.5(PNPT1):c.385C>G (p.Leu129Val)
|
|
|
NM_033109.5(PNPT1):c.395G>A (p.Arg132Gln)
|
rs1320187955
|
|
NM_033109.5(PNPT1):c.404-10C>A
|
rs1057522292
|
|
NM_033109.5(PNPT1):c.404-5G>T
|
rs1156874425
|
|
NM_033109.5(PNPT1):c.407G>A (p.Arg136His)
|
rs746356243
|
|
NM_033109.5(PNPT1):c.429A>G (p.Pro143=)
|
rs758544175
|
|
NM_033109.5(PNPT1):c.453+154dup
|
rs397943177
|
|
NM_033109.5(PNPT1):c.453+172del
|
rs397943177
|
|
NM_033109.5(PNPT1):c.454-18dup
|
rs1064794498
|
|
NM_033109.5(PNPT1):c.454-264C>G
|
rs782619
|
|
NM_033109.5(PNPT1):c.521C>T (p.Ser174Phe)
|
rs1553501171
|
|
NM_033109.5(PNPT1):c.565+279_565+286del
|
rs35483599
|
|
NM_033109.5(PNPT1):c.565+286del
|
rs35483599
|
|
NM_033109.5(PNPT1):c.574C>T (p.Arg192Ter)
|
|
|
NM_033109.5(PNPT1):c.680-27dup
|
rs146633902
|
|
NM_033109.5(PNPT1):c.695C>T (p.Ser232Phe)
|
|
|
NM_033109.5(PNPT1):c.716A>C (p.Gln239Pro)
|
rs766647494
|
|
NM_033109.5(PNPT1):c.739G>T (p.Val247Leu)
|
rs574988767
|
|
NM_033109.5(PNPT1):c.861T>A (p.Thr287=)
|
rs150220872
|
|
NM_033109.5(PNPT1):c.872C>T (p.Ala291Val)
|
rs1696933161
|
|
NM_033109.5(PNPT1):c.892G>C (p.Val298Leu)
|
|
|
NM_033109.5(PNPT1):c.918+153GTTTT[2]
|
rs147416432
|
|