NM_006031.6(PCNT):c.1784C>T (p.Ala595Val)
|
rs143028464
|
0.00265
|
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)
|
rs117987006
|
0.00257
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln)
|
rs35557109
|
0.00238
|
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr)
|
rs143289533
|
0.00179
|
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)
|
rs138036524
|
0.00165
|
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp)
|
rs189308172
|
0.00163
|
NM_006031.6(PCNT):c.724G>A (p.Val242Met)
|
rs147931950
|
0.00115
|
NM_006031.6(PCNT):c.7180-8C>T
|
rs143511166
|
0.00108
|
NM_006031.6(PCNT):c.7833C>T (p.Ser2611=)
|
rs139227909
|
0.00096
|
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly)
|
rs140424584
|
0.00093
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=)
|
rs144869229
|
0.00086
|
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys)
|
rs548190846
|
0.00077
|
NM_006031.6(PCNT):c.1107T>C (p.His369=)
|
rs113731555
|
0.00076
|
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met)
|
rs139581644
|
0.00076
|
NM_006031.6(PCNT):c.5708G>T (p.Arg1903Leu)
|
rs776232288
|
0.00074
|
NM_006031.6(PCNT):c.1761+14C>T
|
rs368329088
|
0.00073
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=)
|
rs150882711
|
0.00066
|
NM_006031.6(PCNT):c.6151-9C>T
|
rs200571944
|
0.00059
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00058
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)
|
rs143776463
|
0.00046
|
NM_006031.6(PCNT):c.9800G>A (p.Arg3267His)
|
rs200268000
|
0.00045
|
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=)
|
rs143671774
|
0.00043
|
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=)
|
rs138543824
|
0.00040
|
NM_006031.6(PCNT):c.6792G>A (p.Ala2264=)
|
rs145376230
|
0.00040
|
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg)
|
rs201827977
|
0.00039
|
NM_006031.6(PCNT):c.7335G>A (p.Ala2445=)
|
rs140044774
|
0.00039
|
NM_006031.6(PCNT):c.1761+13G>A
|
rs368579694
|
0.00038
|
NM_006031.6(PCNT):c.8538G>A (p.Thr2846=)
|
rs146053975
|
0.00038
|
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln)
|
rs146792192
|
0.00036
|
NM_006031.6(PCNT):c.3840+19G>C
|
rs377597505
|
0.00035
|
NM_006031.6(PCNT):c.9099+13C>T
|
rs376185703
|
0.00035
|
NM_006031.6(PCNT):c.5736C>T (p.Ala1912=)
|
rs766460016
|
0.00034
|
NM_006031.6(PCNT):c.5997T>C (p.Gly1999=)
|
rs146997824
|
0.00034
|
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=)
|
rs146875945
|
0.00031
|
NM_006031.6(PCNT):c.4962+7G>A
|
rs369388260
|
0.00029
|
NM_006031.6(PCNT):c.7224G>A (p.Ala2408=)
|
rs140912550
|
0.00028
|
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=)
|
rs144342729
|
0.00027
|
NM_006031.6(PCNT):c.9099+14G>A
|
rs370266308
|
0.00027
|
NM_006031.6(PCNT):c.4564-15A>G
|
rs201627129
|
0.00026
|
NM_006031.6(PCNT):c.7993C>T (p.Leu2665=)
|
rs370099497
|
0.00026
|
NM_006031.6(PCNT):c.2439C>T (p.Ser813=)
|
rs144810300
|
0.00024
|
NM_006031.6(PCNT):c.5115+11A>G
|
rs371474470
|
0.00024
|
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val)
|
rs142080697
|
0.00023
|
NM_006031.6(PCNT):c.8996+12C>T
|
rs369265202
|
0.00023
|
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=)
|
rs146717642
|
0.00022
|
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=)
|
rs150436577
|
0.00021
|
NM_006031.6(PCNT):c.5370C>T (p.Gly1790=)
|
rs192388432
|
0.00020
|
NM_006031.6(PCNT):c.2178C>T (p.Asp726=)
|
rs148495760
|
0.00019
|
NM_006031.6(PCNT):c.4395G>A (p.Gln1465=)
|
rs112911892
|
0.00019
|
NM_006031.6(PCNT):c.9138C>T (p.Asp3046=)
|
rs141856476
|
0.00019
|
NM_006031.6(PCNT):c.9363C>A (p.Ala3121=)
|
rs144262961
|
0.00019
|
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
|
rs200610141
|
0.00018
|
NM_006031.6(PCNT):c.5994+14G>C
|
rs749371662
|
0.00017
|
NM_006031.6(PCNT):c.6150+3G>A
|
rs760779996
|
0.00016
|
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=)
|
rs138506849
|
0.00016
|
NM_006031.6(PCNT):c.7179+18G>A
|
rs370492724
|
0.00016
|
NM_006031.6(PCNT):c.8130C>T (p.His2710=)
|
rs373738288
|
0.00016
|
NM_006031.6(PCNT):c.9840-4G>A
|
rs199857861
|
0.00016
|
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly)
|
rs147868583
|
0.00015
|
NM_006031.6(PCNT):c.2559G>A (p.Ala853=)
|
rs757405970
|
0.00015
|
NM_006031.6(PCNT):c.4216+9C>T
|
rs369876466
|
0.00014
|
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val)
|
rs369038814
|
0.00014
|
NM_006031.6(PCNT):c.5661C>T (p.His1887=)
|
rs145784615
|
0.00014
|
NM_006031.6(PCNT):c.6096G>A (p.Ser2032=)
|
rs370040791
|
0.00014
|
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=)
|
rs142800774
|
0.00014
|
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)
|
rs200174202
|
0.00013
|
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=)
|
rs751932532
|
0.00013
|
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr)
|
rs140290722
|
0.00013
|
NM_006031.6(PCNT):c.3363C>T (p.Ser1121=)
|
rs141878320
|
0.00012
|
NM_006031.6(PCNT):c.4056C>T (p.Ala1352=)
|
rs141211481
|
0.00012
|
NM_006031.6(PCNT):c.4791+14A>G
|
rs201124068
|
0.00012
|
NM_006031.6(PCNT):c.6885G>A (p.Pro2295=)
|
rs752200836
|
0.00012
|
NM_006031.6(PCNT):c.9030A>G (p.Lys3010=)
|
rs138791485
|
0.00012
|
NM_006031.6(PCNT):c.1185T>C (p.Phe395=)
|
rs764314231
|
0.00011
|
NM_006031.6(PCNT):c.2609+16C>T
|
rs762049505
|
0.00011
|
NM_006031.6(PCNT):c.3423C>T (p.Leu1141=)
|
rs113763153
|
0.00011
|
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)
|
rs202221024
|
0.00011
|
NM_006031.6(PCNT):c.5493G>A (p.Ala1831=)
|
rs142278771
|
0.00011
|
NM_006031.6(PCNT):c.7755G>A (p.Leu2585=)
|
rs144026961
|
0.00011
|
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val)
|
rs146657011
|
0.00011
|
NM_006031.6(PCNT):c.9123G>A (p.Gln3041=)
|
rs753027643
|
0.00010
|
NM_006031.6(PCNT):c.977C>T (p.Ala326Val)
|
rs181165794
|
0.00010
|
NM_006031.6(PCNT):c.1590T>C (p.Ala530=)
|
rs200294006
|
0.00009
|
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu)
|
rs745598788
|
0.00009
|
NM_006031.6(PCNT):c.4527G>A (p.Ala1509=)
|
rs142020803
|
0.00009
|
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val)
|
rs546562229
|
0.00009
|
NM_006031.6(PCNT):c.5079C>T (p.Ser1693=)
|
rs377039885
|
0.00009
|
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala)
|
rs199847432
|
0.00009
|
NM_006031.6(PCNT):c.9099+8G>T
|
rs369178196
|
0.00009
|
NM_006031.6(PCNT):c.9235T>C (p.Leu3079=)
|
rs144651746
|
0.00009
|
NM_006031.6(PCNT):c.3144C>T (p.His1048=)
|
rs139345424
|
0.00008
|
NM_006031.6(PCNT):c.6276C>T (p.Ala2092=)
|
rs755726044
|
0.00008
|
NM_006031.6(PCNT):c.6348C>T (p.Asp2116=)
|
rs144430478
|
0.00008
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
NM_006031.6(PCNT):c.7179+17C>T
|
rs774896211
|
0.00008
|
NM_006031.6(PCNT):c.721-5C>T
|
rs144683591
|
0.00008
|
NM_006031.6(PCNT):c.8751+9C>T
|
rs778311816
|
0.00008
|
NM_006031.6(PCNT):c.909G>A (p.Leu303=)
|
rs759236031
|
0.00008
|
NM_006031.6(PCNT):c.1491T>G (p.Arg497=)
|
rs750149641
|
0.00007
|
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)
|
rs755298136
|
0.00007
|
NM_006031.6(PCNT):c.8115C>T (p.Cys2705=)
|
rs756904669
|
0.00007
|
NM_006031.6(PCNT):c.8955C>T (p.Ala2985=)
|
rs368445228
|
0.00007
|
NM_006031.6(PCNT):c.405C>T (p.Val135=)
|
rs371917839
|
0.00006
|
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met)
|
rs193261408
|
0.00006
|
NM_006031.6(PCNT):c.4785G>A (p.Leu1595=)
|
rs528306548
|
0.00006
|
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val)
|
rs374300652
|
0.00006
|
NM_006031.6(PCNT):c.6150+8G>A
|
rs894234623
|
0.00006
|
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=)
|
rs755119869
|
0.00006
|
NM_006031.6(PCNT):c.7302C>A (p.Leu2434=)
|
rs369252735
|
0.00006
|
NM_006031.6(PCNT):c.8244G>A (p.Ala2748=)
|
rs748701723
|
0.00006
|
NM_006031.6(PCNT):c.8569C>T (p.Leu2857=)
|
rs375869631
|
0.00006
|
NM_006031.6(PCNT):c.8883C>T (p.Ala2961=)
|
rs371900466
|
0.00006
|
NM_006031.6(PCNT):c.8997-18G>T
|
rs549927628
|
0.00006
|
NM_006031.6(PCNT):c.930C>T (p.His310=)
|
rs778056605
|
0.00006
|
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr)
|
rs202170105
|
0.00006
|
NM_006031.6(PCNT):c.2040A>G (p.Gln680=)
|
rs541212970
|
0.00005
|
NM_006031.6(PCNT):c.3648G>A (p.Pro1216=)
|
rs756724097
|
0.00005
|
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His)
|
rs201315836
|
0.00005
|
NM_006031.6(PCNT):c.4216+11C>T
|
rs776009557
|
0.00005
|
NM_006031.6(PCNT):c.4447-18C>T
|
rs772962754
|
0.00005
|
NM_006031.6(PCNT):c.7029C>T (p.Asp2343=)
|
rs143064269
|
0.00005
|
NM_006031.6(PCNT):c.7180-7G>A
|
rs201549624
|
0.00005
|
NM_006031.6(PCNT):c.8977A>G (p.Thr2993Ala)
|
rs375035745
|
0.00005
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
NM_006031.6(PCNT):c.3464+14C>T
|
rs187366347
|
0.00004
|
NM_006031.6(PCNT):c.3528C>T (p.Ala1176=)
|
rs146928526
|
0.00004
|
NM_006031.6(PCNT):c.3607+12G>A
|
rs750787900
|
0.00004
|
NM_006031.6(PCNT):c.4371G>A (p.Ala1457=)
|
rs761736816
|
0.00004
|
NM_006031.6(PCNT):c.4791+8G>A
|
rs769352853
|
0.00004
|
NM_006031.6(PCNT):c.48G>A (p.Arg16=)
|
rs778757744
|
0.00004
|
NM_006031.6(PCNT):c.5937C>T (p.Thr1979=)
|
rs181294356
|
0.00004
|
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val)
|
rs145119952
|
0.00004
|
NM_006031.6(PCNT):c.6144C>T (p.Gly2048=)
|
rs777489939
|
0.00004
|
NM_006031.6(PCNT):c.6408G>C (p.Gly2136=)
|
rs141594796
|
0.00004
|
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=)
|
rs755956494
|
0.00004
|
NM_006031.6(PCNT):c.7180-16C>T
|
rs972844919
|
0.00004
|
NM_006031.6(PCNT):c.7848C>T (p.Ser2616=)
|
rs759569235
|
0.00004
|
NM_006031.6(PCNT):c.8349C>T (p.Asp2783=)
|
rs145748861
|
0.00004
|
NM_006031.6(PCNT):c.9393+17G>A
|
rs769089391
|
0.00004
|
NM_006031.6(PCNT):c.1207+9T>C
|
rs372223976
|
0.00003
|
NM_006031.6(PCNT):c.1743C>T (p.Leu581=)
|
rs375581809
|
0.00003
|
NM_006031.6(PCNT):c.1762-16C>T
|
rs756780396
|
0.00003
|
NM_006031.6(PCNT):c.2154+8G>A
|
rs778407564
|
0.00003
|
NM_006031.6(PCNT):c.2454G>A (p.Gln818=)
|
rs375305165
|
0.00003
|
NM_006031.6(PCNT):c.2779T>C (p.Leu927=)
|
rs752161383
|
0.00003
|
NM_006031.6(PCNT):c.336T>C (p.His112=)
|
rs59157477
|
0.00003
|
NM_006031.6(PCNT):c.339T>A (p.Pro113=)
|
rs59662841
|
0.00003
|
NM_006031.6(PCNT):c.3411C>T (p.Gly1137=)
|
rs375993930
|
0.00003
|
NM_006031.6(PCNT):c.363A>C (p.Thr121=)
|
rs150766997
|
0.00003
|
NM_006031.6(PCNT):c.4614A>G (p.Glu1538=)
|
rs551574709
|
0.00003
|
NM_006031.6(PCNT):c.54+9T>A
|
rs771000653
|
0.00003
|
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=)
|
rs761816773
|
0.00003
|
NM_006031.6(PCNT):c.6648C>T (p.Val2216=)
|
rs527590016
|
0.00003
|
NM_006031.6(PCNT):c.6888G>A (p.Pro2296=)
|
rs532762118
|
0.00003
|
NM_006031.6(PCNT):c.9597C>T (p.Ala3199=)
|
rs780802031
|
0.00003
|
NM_006031.6(PCNT):c.1456+16G>A
|
rs765900162
|
0.00002
|
NM_006031.6(PCNT):c.3312+14G>A
|
rs371666981
|
0.00002
|
NM_006031.6(PCNT):c.4004-15G>A
|
rs370163972
|
0.00002
|
NM_006031.6(PCNT):c.4093C>T (p.Leu1365=)
|
rs765239781
|
0.00002
|
NM_006031.6(PCNT):c.4230A>G (p.Glu1410=)
|
rs774962506
|
0.00002
|
NM_006031.6(PCNT):c.4356G>T (p.Gly1452=)
|
rs776946965
|
0.00002
|
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=)
|
rs61735807
|
0.00002
|
NM_006031.6(PCNT):c.4929G>C (p.Val1643=)
|
rs569351854
|
0.00002
|
NM_006031.6(PCNT):c.5994+17G>A
|
rs570628453
|
0.00002
|
NM_006031.6(PCNT):c.6150+10G>C
|
rs886057186
|
0.00002
|
NM_006031.6(PCNT):c.7137G>T (p.Pro2379=)
|
rs367977723
|
0.00002
|
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=)
|
rs745406750
|
0.00002
|
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=)
|
rs541260181
|
0.00002
|
NM_006031.6(PCNT):c.7653G>A (p.Ala2551=)
|
rs749003465
|
0.00002
|
NM_006031.6(PCNT):c.8412G>A (p.Leu2804=)
|
rs529137460
|
0.00002
|
NM_006031.6(PCNT):c.8718G>A (p.Gln2906=)
|
rs755984222
|
0.00002
|
NM_006031.6(PCNT):c.903C>T (p.His301=)
|
rs1020485115
|
0.00002
|
NM_006031.6(PCNT):c.9393+9G>A
|
rs562812369
|
0.00002
|
NM_006031.6(PCNT):c.1335A>G (p.Lys445=)
|
rs771882821
|
0.00001
|
NM_006031.6(PCNT):c.1457-9dup
|
rs1486232846
|
0.00001
|
NM_006031.6(PCNT):c.1474C>T (p.Leu492=)
|
rs772312106
|
0.00001
|
NM_006031.6(PCNT):c.1479G>A (p.Ala493=)
|
rs199864153
|
0.00001
|
NM_006031.6(PCNT):c.1593G>A (p.Glu531=)
|
rs767430243
|
0.00001
|
NM_006031.6(PCNT):c.1737T>C (p.Asp579=)
|
rs1170990391
|
0.00001
|
NM_006031.6(PCNT):c.1899C>T (p.His633=)
|
rs759570685
|
0.00001
|
NM_006031.6(PCNT):c.2610-20T>C
|
rs772330014
|
0.00001
|
NM_006031.6(PCNT):c.2610-7G>A
|
rs753811883
|
0.00001
|
NM_006031.6(PCNT):c.2991T>C (p.Phe997=)
|
rs767625587
|
0.00001
|
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=)
|
rs752831769
|
0.00001
|
NM_006031.6(PCNT):c.3465-10C>T
|
rs375839439
|
0.00001
|
NM_006031.6(PCNT):c.3698A>C (p.Glu1233Ala)
|
rs199787861
|
0.00001
|
NM_006031.6(PCNT):c.3795G>A (p.Leu1265=)
|
rs761411121
|
0.00001
|
NM_006031.6(PCNT):c.3798C>T (p.Ala1266=)
|
rs769080650
|
0.00001
|
NM_006031.6(PCNT):c.3924G>A (p.Lys1308=)
|
rs139543323
|
0.00001
|
NM_006031.6(PCNT):c.393G>A (p.Gly131=)
|
rs752365337
|
0.00001
|
NM_006031.6(PCNT):c.3963A>C (p.Ala1321=)
|
rs1269271029
|
0.00001
|
NM_006031.6(PCNT):c.4104G>C (p.Leu1368=)
|
rs372049859
|
0.00001
|
NM_006031.6(PCNT):c.4143G>A (p.Ala1381=)
|
rs111697920
|
0.00001
|
NM_006031.6(PCNT):c.4176G>C (p.Arg1392=)
|
rs767908478
|
0.00001
|
NM_006031.6(PCNT):c.4386C>T (p.Ala1462=)
|
rs765908073
|
0.00001
|
NM_006031.6(PCNT):c.4563+15C>T
|
rs1234384421
|
0.00001
|
NM_006031.6(PCNT):c.4564-20C>T
|
rs745809500
|
0.00001
|
NM_006031.6(PCNT):c.4585-10G>C
|
rs530752009
|
0.00001
|
NM_006031.6(PCNT):c.4585-3T>C
|
rs777059690
|
0.00001
|
NM_006031.6(PCNT):c.459A>G (p.Pro153=)
|
rs570419067
|
0.00001
|
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=)
|
rs760142269
|
0.00001
|
NM_006031.6(PCNT):c.5283C>T (p.His1761=)
|
rs763259541
|
0.00001
|
NM_006031.6(PCNT):c.5385G>A (p.Ala1795=)
|
rs371295884
|
0.00001
|
NM_006031.6(PCNT):c.54+14G>A
|
rs368614001
|
0.00001
|
NM_006031.6(PCNT):c.5449C>T (p.Leu1817=)
|
rs571289721
|
0.00001
|
NM_006031.6(PCNT):c.5583G>A (p.Ala1861=)
|
rs770667557
|
0.00001
|
NM_006031.6(PCNT):c.5613C>T (p.Ala1871=)
|
rs764625701
|
0.00001
|
NM_006031.6(PCNT):c.5709C>T (p.Arg1903=)
|
rs774766182
|
0.00001
|
NM_006031.6(PCNT):c.5919C>T (p.Gly1973=)
|
rs752349556
|
0.00001
|
NM_006031.6(PCNT):c.5976G>A (p.Pro1992=)
|
rs1017180528
|
0.00001
|
NM_006031.6(PCNT):c.6088C>T (p.Leu2030=)
|
rs1446531561
|
0.00001
|
NM_006031.6(PCNT):c.6192C>T (p.Val2064=)
|
rs1229663143
|
0.00001
|
NM_006031.6(PCNT):c.6447G>A (p.Ala2149=)
|
rs763122571
|
0.00001
|
NM_006031.6(PCNT):c.6894C>T (p.Asp2298=)
|
rs746661597
|
0.00001
|
NM_006031.6(PCNT):c.6921+11G>C
|
rs772210169
|
0.00001
|
NM_006031.6(PCNT):c.6966A>G (p.Gln2322=)
|
rs755460323
|
0.00001
|
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)
|
rs576187743
|
0.00001
|
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=)
|
rs1292668105
|
0.00001
|
NM_006031.6(PCNT):c.7321-10C>T
|
rs587784318
|
0.00001
|
NM_006031.6(PCNT):c.7557C>T (p.Ser2519=)
|
rs1296234306
|
0.00001
|
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=)
|
rs372531708
|
0.00001
|
NM_006031.6(PCNT):c.7644C>T (p.Ser2548=)
|
rs369949793
|
0.00001
|
NM_006031.6(PCNT):c.7699C>T (p.Leu2567=)
|
rs766025734
|
0.00001
|
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=)
|
rs757858684
|
0.00001
|
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=)
|
rs777255057
|
0.00001
|
NM_006031.6(PCNT):c.8289C>T (p.His2763=)
|
rs767100231
|
0.00001
|
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=)
|
rs776706307
|
0.00001
|
NM_006031.6(PCNT):c.8352A>G (p.Thr2784=)
|
rs753399184
|
0.00001
|
NM_006031.6(PCNT):c.8496G>A (p.Ala2832=)
|
rs749568356
|
0.00001
|
NM_006031.6(PCNT):c.8712G>A (p.Ala2904=)
|
rs767301271
|
0.00001
|
NM_006031.6(PCNT):c.8751+12C>A
|
rs1405538473
|
0.00001
|
NM_006031.6(PCNT):c.8751+16C>T
|
rs747366106
|
0.00001
|
NM_006031.6(PCNT):c.885A>G (p.Leu295=)
|
rs769171675
|
0.00001
|
NM_006031.6(PCNT):c.8997-9T>C
|
rs529504851
|
0.00001
|
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=)
|
rs942925965
|
0.00001
|
NM_006031.6(PCNT):c.9100-18T>C
|
rs772609834
|
0.00001
|
NM_006031.6(PCNT):c.9183G>A (p.Thr3061=)
|
rs747455040
|
0.00001
|
NM_006031.6(PCNT):c.10008G>A (p.Gln3336=)
|
|
|
NM_006031.6(PCNT):c.1002A>G (p.Ser334=)
|
|
|
NM_006031.6(PCNT):c.1017C>T (p.Asn339=)
|
|
|
NM_006031.6(PCNT):c.1032+11T>A
|
|
|
NM_006031.6(PCNT):c.1032+13G>A
|
|
|
NM_006031.6(PCNT):c.1032+17C>G
|
|
|
NM_006031.6(PCNT):c.1032+7G>A
|
rs774010817
|
|
NM_006031.6(PCNT):c.1032+9G>C
|
|
|
NM_006031.6(PCNT):c.1032+9del
|
|
|
NM_006031.6(PCNT):c.1033-12_1033-9del
|
|
|
NM_006031.6(PCNT):c.1033-15_1033-13del
|
|
|
NM_006031.6(PCNT):c.1033-19T>A
|
|
|
NM_006031.6(PCNT):c.1033-20T>G
|
|
|
NM_006031.6(PCNT):c.1033-7A>C
|
|
|
NM_006031.6(PCNT):c.1033-7A>T
|
rs1214767120
|
|
NM_006031.6(PCNT):c.1059A>G (p.Glu353=)
|
|
|
NM_006031.6(PCNT):c.1066T>C (p.Leu356=)
|
|
|
NM_006031.6(PCNT):c.1081C>T (p.Leu361=)
|
|
|
NM_006031.6(PCNT):c.1083A>G (p.Leu361=)
|
rs758561093
|
|
NM_006031.6(PCNT):c.1095G>A (p.Leu365=)
|
|
|
NM_006031.6(PCNT):c.1104G>A (p.Lys368=)
|
|
|
NM_006031.6(PCNT):c.1113A>G (p.Ser371=)
|
|
|
NM_006031.6(PCNT):c.1122G>A (p.Glu374=)
|
|
|
NM_006031.6(PCNT):c.1167T>A (p.Ala389=)
|
|
|
NM_006031.6(PCNT):c.1171T>C (p.Leu391=)
|
|
|
NM_006031.6(PCNT):c.1173G>A (p.Leu391=)
|
|
|
NM_006031.6(PCNT):c.1179G>A (p.Lys393=)
|
|
|
NM_006031.6(PCNT):c.1203T>C (p.Ala401=)
|
|
|
NM_006031.6(PCNT):c.1207+18G>A
|
|
|
NM_006031.6(PCNT):c.1208-16T>C
|
|
|
NM_006031.6(PCNT):c.1208-18A>T
|
|
|
NM_006031.6(PCNT):c.1208-20C>T
|
|
|
NM_006031.6(PCNT):c.1208-4C>G
|
|
|
NM_006031.6(PCNT):c.1208-9C>T
|
|
|
NM_006031.6(PCNT):c.1209G>A (p.Arg403=)
|
|
|
NM_006031.6(PCNT):c.1239A>G (p.Gln413=)
|
|
|
NM_006031.6(PCNT):c.1248T>C (p.Ile416=)
|
|
|
NM_006031.6(PCNT):c.1266C>T (p.Asp422=)
|
|
|
NM_006031.6(PCNT):c.1275C>T (p.Ser425=)
|
|
|
NM_006031.6(PCNT):c.1278G>A (p.Glu426=)
|
rs773448951
|
|
NM_006031.6(PCNT):c.1284C>A (p.Gly428=)
|
|
|
NM_006031.6(PCNT):c.1287G>A (p.Arg429=)
|
|
|
NM_006031.6(PCNT):c.1300T>C (p.Leu434=)
|
rs1384003964
|
|
NM_006031.6(PCNT):c.1320G>A (p.Glu440=)
|
|
|
NM_006031.6(PCNT):c.1323C>T (p.Ser441=)
|
|
|
NM_006031.6(PCNT):c.1329A>G (p.Lys443=)
|
|
|
NM_006031.6(PCNT):c.1344+15C>T
|
|
|
NM_006031.6(PCNT):c.1344+16G>C
|
|
|
NM_006031.6(PCNT):c.1344+17T>A
|
|
|
NM_006031.6(PCNT):c.1344+18T>G
|
|
|
NM_006031.6(PCNT):c.1345-12T>C
|
|
|
NM_006031.6(PCNT):c.1345-14T>C
|
|
|
NM_006031.6(PCNT):c.1345-16A>G
|
|
|
NM_006031.6(PCNT):c.1345-20G>A
|
|
|
NM_006031.6(PCNT):c.1345-20G>C
|
|
|
NM_006031.6(PCNT):c.1359A>G (p.Gln453=)
|
|
|
NM_006031.6(PCNT):c.1368T>C (p.Tyr456=)
|
|
|
NM_006031.6(PCNT):c.1374C>T (p.Asp458=)
|
|
|
NM_006031.6(PCNT):c.1375C>T (p.Leu459=)
|
|
|
NM_006031.6(PCNT):c.1386A>G (p.Gln462=)
|
|
|
NM_006031.6(PCNT):c.1407C>G (p.Arg469=)
|
|
|
NM_006031.6(PCNT):c.1407C>T (p.Arg469=)
|
|
|
NM_006031.6(PCNT):c.1419G>A (p.Gln473=)
|
|
|
NM_006031.6(PCNT):c.1449A>G (p.Glu483=)
|
|
|
NM_006031.6(PCNT):c.1456+11G>A
|
|
|
NM_006031.6(PCNT):c.1456+11G>T
|
|
|
NM_006031.6(PCNT):c.1456+18A>G
|
|
|
NM_006031.6(PCNT):c.1457-10T>C
|
|
|
NM_006031.6(PCNT):c.1457-12G>A
|
rs756968448
|
|
NM_006031.6(PCNT):c.1457-12G>C
|
|
|
NM_006031.6(PCNT):c.1457-13C>G
|
|
|
NM_006031.6(PCNT):c.1457-13C>T
|
|
|
NM_006031.6(PCNT):c.1457-20C>G
|
|
|
NM_006031.6(PCNT):c.1457-20C>T
|
|
|
NM_006031.6(PCNT):c.1457-7G>A
|
|
|
NM_006031.6(PCNT):c.1457-7G>T
|
|
|
NM_006031.6(PCNT):c.1457-8T>C
|
|
|
NM_006031.6(PCNT):c.1458G>A (p.Glu486=)
|
|
|
NM_006031.6(PCNT):c.1467G>A (p.Glu489=)
|
|
|
NM_006031.6(PCNT):c.1491T>C (p.Arg497=)
|
|
|
NM_006031.6(PCNT):c.1542C>G (p.Ser514=)
|
|
|
NM_006031.6(PCNT):c.1542C>T (p.Ser514=)
|
rs2249057
|
|
NM_006031.6(PCNT):c.1560G>A (p.Arg520=)
|
|
|
NM_006031.6(PCNT):c.1614A>T (p.Leu538=)
|
|
|
NM_006031.6(PCNT):c.1618C>T (p.Leu540=)
|
|
|
NM_006031.6(PCNT):c.1621T>C (p.Leu541=)
|
|
|
NM_006031.6(PCNT):c.1629G>A (p.Gln543=)
|
|
|
NM_006031.6(PCNT):c.1644G>A (p.Ala548=)
|
|
|
NM_006031.6(PCNT):c.1656T>A (p.Ala552=)
|
|
|
NM_006031.6(PCNT):c.1665C>T (p.Asp555=)
|
|
|
NM_006031.6(PCNT):c.1679+14T>C
|
|
|
NM_006031.6(PCNT):c.1679+16C>T
|
|
|
NM_006031.6(PCNT):c.1679+17C>T
|
|
|
NM_006031.6(PCNT):c.1679+17del
|
|
|
NM_006031.6(PCNT):c.1680-6C>T
|
|
|
NM_006031.6(PCNT):c.1680-7C>T
|
|
|
NM_006031.6(PCNT):c.1686C>T (p.Ser562=)
|
|
|
NM_006031.6(PCNT):c.1698A>G (p.Leu566=)
|
|
|
NM_006031.6(PCNT):c.1704G>A (p.Glu568=)
|
|
|
NM_006031.6(PCNT):c.1716A>G (p.Lys572=)
|
rs138617654
|
|
NM_006031.6(PCNT):c.1719A>G (p.Gly573=)
|
|
|
NM_006031.6(PCNT):c.1731C>T (p.His577=)
|
|
|
NM_006031.6(PCNT):c.1761+10C>T
|
|
|
NM_006031.6(PCNT):c.1761+11G>A
|
|
|
NM_006031.6(PCNT):c.1761+12C>T
|
|
|
NM_006031.6(PCNT):c.1761+14C>G
|
|
|
NM_006031.6(PCNT):c.1761+15G>A
|
|
|
NM_006031.6(PCNT):c.1761+19A>G
|
|
|
NM_006031.6(PCNT):c.1761+20G>T
|
|
|
NM_006031.6(PCNT):c.1762-15G>A
|
|
|
NM_006031.6(PCNT):c.1762-15G>C
|
|
|
NM_006031.6(PCNT):c.1762-20C>T
|
|
|
NM_006031.6(PCNT):c.1762-6C>G
|
|
|
NM_006031.6(PCNT):c.1762-6C>T
|
|
|
NM_006031.6(PCNT):c.1779C>T (p.Phe593=)
|
|
|
NM_006031.6(PCNT):c.177G>A (p.Glu59=)
|
|
|
NM_006031.6(PCNT):c.1785G>A (p.Ala595=)
|
|
|
NM_006031.6(PCNT):c.1803C>T (p.His601=)
|
|
|
NM_006031.6(PCNT):c.1813C>T (p.Leu605=)
|
|
|
NM_006031.6(PCNT):c.1821G>C (p.Ala607=)
|
|
|
NM_006031.6(PCNT):c.1821G>T (p.Ala607=)
|
|
|
NM_006031.6(PCNT):c.1822C>T (p.Leu608=)
|
|
|
NM_006031.6(PCNT):c.1833C>T (p.Pro611=)
|
|
|
NM_006031.6(PCNT):c.183C>T (p.Ser61=)
|
|
|
NM_006031.6(PCNT):c.1842C>T (p.Ile614=)
|
|
|
NM_006031.6(PCNT):c.1848C>T (p.His616=)
|
|
|
NM_006031.6(PCNT):c.1851G>A (p.Glu617=)
|
|
|
NM_006031.6(PCNT):c.1854G>A (p.Gly618=)
|
|
|
NM_006031.6(PCNT):c.1875C>T (p.Cys625=)
|
|
|
NM_006031.6(PCNT):c.1891T>C (p.Leu631=)
|
|
|
NM_006031.6(PCNT):c.189C>G (p.Leu63=)
|
|
|
NM_006031.6(PCNT):c.189C>T (p.Leu63=)
|
|
|
NM_006031.6(PCNT):c.1907G>A (p.Arg636His)
|
|
|
NM_006031.6(PCNT):c.1920T>C (p.Ser640=)
|
|
|
NM_006031.6(PCNT):c.1936+13C>G
|
|
|
NM_006031.6(PCNT):c.1936+13C>T
|
|
|
NM_006031.6(PCNT):c.1936+14G>A
|
|
|
NM_006031.6(PCNT):c.1936+14G>C
|
|
|
NM_006031.6(PCNT):c.1936+18C>T
|
|
|
NM_006031.6(PCNT):c.1936+19G>A
|
|
|
NM_006031.6(PCNT):c.1937-14C>T
|
|
|
NM_006031.6(PCNT):c.1937-16C>A
|
|
|
NM_006031.6(PCNT):c.1937-17G>C
|
|
|
NM_006031.6(PCNT):c.1937-7C>G
|
|
|
NM_006031.6(PCNT):c.1937-7C>T
|
|
|
NM_006031.6(PCNT):c.1965G>A (p.Val655=)
|
rs1601825062
|
|
NM_006031.6(PCNT):c.1971C>T (p.Asp657=)
|
|
|
NM_006031.6(PCNT):c.1980G>A (p.Leu660=)
|
|
|
NM_006031.6(PCNT):c.1986C>T (p.Ala662=)
|
|
|
NM_006031.6(PCNT):c.1989C>T (p.Asp663=)
|
|
|
NM_006031.6(PCNT):c.1995G>A (p.Glu665=)
|
|
|
NM_006031.6(PCNT):c.1998G>A (p.Arg666=)
|
|
|
NM_006031.6(PCNT):c.2005A>C (p.Arg669=)
|
|
|
NM_006031.6(PCNT):c.2010C>G (p.Val670=)
|
|
|
NM_006031.6(PCNT):c.2022A>G (p.Glu674=)
|
rs2146725506
|
|
NM_006031.6(PCNT):c.2046G>A (p.Ser682=)
|
|
|
NM_006031.6(PCNT):c.204C>T (p.Asp68=)
|
|
|
NM_006031.6(PCNT):c.2055G>A (p.Gln685=)
|
|
|
NM_006031.6(PCNT):c.2058T>G (p.Thr686=)
|
|
|
NM_006031.6(PCNT):c.2064C>A (p.Leu688=)
|
|
|
NM_006031.6(PCNT):c.2064C>G (p.Leu688=)
|
|
|
NM_006031.6(PCNT):c.2064C>T (p.Leu688=)
|
|
|
NM_006031.6(PCNT):c.2076T>C (p.Ile692=)
|
|
|
NM_006031.6(PCNT):c.2085A>C (p.Leu695=)
|
|
|
NM_006031.6(PCNT):c.2104T>C (p.Leu702=)
|
|
|
NM_006031.6(PCNT):c.2118G>A (p.Leu706=)
|
|
|
NM_006031.6(PCNT):c.2142C>T (p.Asp714=)
|
|
|
NM_006031.6(PCNT):c.2154+10G>A
|
|
|
NM_006031.6(PCNT):c.2154+15C>T
|
|
|
NM_006031.6(PCNT):c.2154+19G>T
|
|
|
NM_006031.6(PCNT):c.2154+20C>G
|
|
|
NM_006031.6(PCNT):c.2154+20C>T
|
|
|
NM_006031.6(PCNT):c.2154+7C>T
|
rs376236418
|
|
NM_006031.6(PCNT):c.2154+8G>C
|
|
|
NM_006031.6(PCNT):c.2155-13_2155-12del
|
|
|
NM_006031.6(PCNT):c.2155-20T>G
|
|
|
NM_006031.6(PCNT):c.2155-6C>G
|
|
|
NM_006031.6(PCNT):c.2155-7T>C
|
|
|
NM_006031.6(PCNT):c.2155-7T>G
|
|
|
NM_006031.6(PCNT):c.2169A>C (p.Leu723=)
|
|
|
NM_006031.6(PCNT):c.2193A>G (p.Leu731=)
|
|
|
NM_006031.6(PCNT):c.219A>G (p.Thr73=)
|
|
|
NM_006031.6(PCNT):c.219A>T (p.Thr73=)
|
|
|
NM_006031.6(PCNT):c.21G>A (p.Gln7=)
|
|
|
NM_006031.6(PCNT):c.2208A>G (p.Gln736=)
|
|
|
NM_006031.6(PCNT):c.2214T>C (p.Thr738=)
|
|
|
NM_006031.6(PCNT):c.222A>G (p.Ser74=)
|
|
|
NM_006031.6(PCNT):c.2250G>A (p.Thr750=)
|
rs749527537
|
|
NM_006031.6(PCNT):c.2250G>T (p.Thr750=)
|
|
|
NM_006031.6(PCNT):c.2253C>T (p.Asp751=)
|
|
|
NM_006031.6(PCNT):c.2274G>A (p.Glu758=)
|
|
|
NM_006031.6(PCNT):c.2298G>A (p.Lys766=)
|
|
|
NM_006031.6(PCNT):c.2304A>G (p.Thr768=)
|
|
|
NM_006031.6(PCNT):c.2313A>C (p.Leu771=)
|
|
|
NM_006031.6(PCNT):c.231C>T (p.Asp77=)
|
|
|
NM_006031.6(PCNT):c.2331G>A (p.Lys777=)
|
|
|
NM_006031.6(PCNT):c.2340C>G (p.Ser780=)
|
|
|
NM_006031.6(PCNT):c.2340C>T (p.Ser780=)
|
|
|
NM_006031.6(PCNT):c.234C>A (p.Thr78=)
|
|
|
NM_006031.6(PCNT):c.234C>T (p.Thr78=)
|
|
|
NM_006031.6(PCNT):c.2352C>T (p.Thr784=)
|
|
|
NM_006031.6(PCNT):c.2382T>C (p.Ala794=)
|
|
|
NM_006031.6(PCNT):c.2385A>G (p.Glu795=)
|
|
|
NM_006031.6(PCNT):c.2421C>T (p.Ile807=)
|
|
|
NM_006031.6(PCNT):c.2424G>C (p.Leu808=)
|
|
|
NM_006031.6(PCNT):c.2445G>A (p.Thr815=)
|
|
|
NM_006031.6(PCNT):c.2445G>T (p.Thr815=)
|
|
|
NM_006031.6(PCNT):c.2451G>A (p.Gln817=)
|
|
|
NM_006031.6(PCNT):c.2460C>A (p.Arg820=)
|
|
|
NM_006031.6(PCNT):c.2461C>T (p.Leu821=)
|
|
|
NM_006031.6(PCNT):c.246A>G (p.Ala82=)
|
|
|
NM_006031.6(PCNT):c.2475A>G (p.Glu825=)
|
|
|
NM_006031.6(PCNT):c.2481C>T (p.Asp827=)
|
|
|
NM_006031.6(PCNT):c.2484C>T (p.Leu828=)
|
|
|
NM_006031.6(PCNT):c.2496C>T (p.Asp832=)
|
|
|
NM_006031.6(PCNT):c.2499C>A (p.Ala833=)
|
|
|
NM_006031.6(PCNT):c.24G>A (p.Arg8=)
|
|
|
NM_006031.6(PCNT):c.24G>C (p.Arg8=)
|
rs375279759
|
|
NM_006031.6(PCNT):c.2502G>A (p.Leu834=)
|
|
|
NM_006031.6(PCNT):c.2508C>T (p.Cys836=)
|
|
|
NM_006031.6(PCNT):c.2529G>A (p.Pro843=)
|
|
|
NM_006031.6(PCNT):c.2529G>T (p.Pro843=)
|
|
|
NM_006031.6(PCNT):c.252G>A (p.Gly84=)
|
|
|
NM_006031.6(PCNT):c.252G>C (p.Gly84=)
|
|
|
NM_006031.6(PCNT):c.2544C>T (p.Asp848=)
|
|
|
NM_006031.6(PCNT):c.2558C>T (p.Ala853Val)
|
|
|
NM_006031.6(PCNT):c.2559G>C (p.Ala853=)
|
|
|
NM_006031.6(PCNT):c.255C>A (p.Ala85=)
|
|
|
NM_006031.6(PCNT):c.2562C>G (p.Leu854=)
|
|
|
NM_006031.6(PCNT):c.2565C>T (p.His855=)
|
|
|
NM_006031.6(PCNT):c.2580C>T (p.Cys860=)
|
|
|
NM_006031.6(PCNT):c.2609+13T>A
|
|
|
NM_006031.6(PCNT):c.2609+17G>A
|
|
|
NM_006031.6(PCNT):c.2610-11T>G
|
|
|
NM_006031.6(PCNT):c.2610-15A>G
|
|
|
NM_006031.6(PCNT):c.2610-18T>C
|
|
|
NM_006031.6(PCNT):c.2619G>A (p.Glu873=)
|
|
|
NM_006031.6(PCNT):c.2625T>C (p.Arg875=)
|
|
|
NM_006031.6(PCNT):c.2628A>G (p.Lys876=)
|
rs758820636
|
|
NM_006031.6(PCNT):c.2637C>T (p.Thr879=)
|
rs369248579
|
|
NM_006031.6(PCNT):c.2640G>A (p.Glu880=)
|
|
|
NM_006031.6(PCNT):c.2652G>A (p.Ala884=)
|
|
|
NM_006031.6(PCNT):c.267+13A>G
|
|
|
NM_006031.6(PCNT):c.267+14A>G
|
|
|
NM_006031.6(PCNT):c.267+17T>G
|
|
|
NM_006031.6(PCNT):c.267+18T>C
|
|
|
NM_006031.6(PCNT):c.267+8dup
|
|
|
NM_006031.6(PCNT):c.2670G>T (p.Leu890=)
|
|
|
NM_006031.6(PCNT):c.268-13C>T
|
|
|
NM_006031.6(PCNT):c.268-13del
|
|
|
NM_006031.6(PCNT):c.268-14C>T
|
|
|
NM_006031.6(PCNT):c.268-17G>T
|
|
|
NM_006031.6(PCNT):c.268-19C>T
|
|
|
NM_006031.6(PCNT):c.268-4T>C
|
rs1569162349
|
|
NM_006031.6(PCNT):c.268-5C>T
|
|
|
NM_006031.6(PCNT):c.268-5_268-3del
|
rs751683541
|
|
NM_006031.6(PCNT):c.268-8C>G
|
|
|
NM_006031.6(PCNT):c.268-9C>G
|
|
|
NM_006031.6(PCNT):c.2697T>G (p.Arg899=)
|
|
|
NM_006031.6(PCNT):c.2708T>C (p.Leu903Pro)
|
|
|
NM_006031.6(PCNT):c.2736C>A (p.Leu912=)
|
|
|
NM_006031.6(PCNT):c.2737C>T (p.Leu913=)
|
|
|
NM_006031.6(PCNT):c.2748G>A (p.Thr916=)
|
|
|
NM_006031.6(PCNT):c.2748G>T (p.Thr916=)
|
|
|
NM_006031.6(PCNT):c.2751G>A (p.Ala917=)
|
|
|
NM_006031.6(PCNT):c.2757C>T (p.Leu919=)
|
|
|
NM_006031.6(PCNT):c.2775C>T (p.Ala925=)
|
|
|
NM_006031.6(PCNT):c.2790G>A (p.Leu930=)
|
|
|
NM_006031.6(PCNT):c.27C>T (p.Arg9=)
|
|
|
NM_006031.6(PCNT):c.2821C>T (p.Leu941=)
|
|
|
NM_006031.6(PCNT):c.2835T>C (p.Arg945=)
|
|
|
NM_006031.6(PCNT):c.2841C>T (p.Ala947=)
|
|
|
NM_006031.6(PCNT):c.2856A>G (p.Lys952=)
|
|
|
NM_006031.6(PCNT):c.2859C>T (p.His953=)
|
|
|
NM_006031.6(PCNT):c.2871C>T (p.Leu957=)
|
|
|
NM_006031.6(PCNT):c.2874C>T (p.Gly958=)
|
|
|
NM_006031.6(PCNT):c.2883G>A (p.Glu961=)
|
|
|
NM_006031.6(PCNT):c.288G>A (p.Glu96=)
|
|
|
NM_006031.6(PCNT):c.2893C>T (p.Leu965=)
|
|
|
NM_006031.6(PCNT):c.2895G>A (p.Leu965=)
|
|
|
NM_006031.6(PCNT):c.2895G>T (p.Leu965=)
|
|
|
NM_006031.6(PCNT):c.2925C>T (p.Tyr975=)
|
|
|
NM_006031.6(PCNT):c.2967C>G (p.Ala989=)
|
|
|
NM_006031.6(PCNT):c.2968C>T (p.Leu990=)
|
|
|
NM_006031.6(PCNT):c.2976C>G (p.Leu992=)
|
|
|
NM_006031.6(PCNT):c.2994G>A (p.Glu998=)
|
|
|
NM_006031.6(PCNT):c.3000A>G (p.Gln1000=)
|
|
|
NM_006031.6(PCNT):c.3009A>G (p.Lys1003=)
|
|
|
NM_006031.6(PCNT):c.3018T>C (p.Ser1006=)
|
|
|
NM_006031.6(PCNT):c.3021T>C (p.Leu1007=)
|
|
|
NM_006031.6(PCNT):c.3036G>A (p.Leu1012=)
|
|
|
NM_006031.6(PCNT):c.3054A>G (p.Lys1018=)
|
|
|
NM_006031.6(PCNT):c.3066A>G (p.Lys1022=)
|
|
|
NM_006031.6(PCNT):c.3069C>T (p.His1023=)
|
|
|
NM_006031.6(PCNT):c.3081A>G (p.Leu1027=)
|
|
|
NM_006031.6(PCNT):c.3087T>C (p.Ser1029=)
|
|
|
NM_006031.6(PCNT):c.3100C>T (p.Leu1034=)
|
|
|
NM_006031.6(PCNT):c.3126C>T (p.Leu1042=)
|
|
|
NM_006031.6(PCNT):c.3129C>T (p.Ala1043=)
|
|
|
NM_006031.6(PCNT):c.3135C>G (p.Thr1045=)
|
|
|
NM_006031.6(PCNT):c.3135C>T (p.Thr1045=)
|
|
|
NM_006031.6(PCNT):c.3148C>T (p.Leu1050=)
|
|
|
NM_006031.6(PCNT):c.3159G>A (p.Val1053=)
|
|
|
NM_006031.6(PCNT):c.315G>A (p.Gln105=)
|
|
|
NM_006031.6(PCNT):c.3162C>T (p.His1054=)
|
|
|
NM_006031.6(PCNT):c.3165+13G>A
|
|
|
NM_006031.6(PCNT):c.3165+15C>T
|
|
|
NM_006031.6(PCNT):c.3165+19G>A
|
|
|
NM_006031.6(PCNT):c.3165+7C>T
|
|
|
NM_006031.6(PCNT):c.3165+8G>A
|
|
|
NM_006031.6(PCNT):c.3165+8G>T
|
|
|
NM_006031.6(PCNT):c.3166-13T>C
|
|
|
NM_006031.6(PCNT):c.3166-14A>G
|
|
|
NM_006031.6(PCNT):c.3166-20A>G
|
|
|
NM_006031.6(PCNT):c.3166-20_3166-18del
|
|
|
NM_006031.6(PCNT):c.3166-6G>A
|
|
|
NM_006031.6(PCNT):c.3166-8G>A
|
|
|
NM_006031.6(PCNT):c.3168T>G (p.Gly1056=)
|
rs2147145493
|
|
NM_006031.6(PCNT):c.3186G>A (p.Lys1062=)
|
|
|
NM_006031.6(PCNT):c.3204A>G (p.Glu1068=)
|
|
|
NM_006031.6(PCNT):c.3216A>G (p.Thr1072=)
|
|
|
NM_006031.6(PCNT):c.3222G>A (p.Arg1074=)
|
|
|
NM_006031.6(PCNT):c.3246T>A (p.Pro1082=)
|
|
|
NM_006031.6(PCNT):c.3271T>C (p.Leu1091=)
|
|
|
NM_006031.6(PCNT):c.3312+11T>A
|
|
|
NM_006031.6(PCNT):c.3312+13C>G
|
|
|
NM_006031.6(PCNT):c.3312+13C>T
|
|
|
NM_006031.6(PCNT):c.3312+16T>C
|
|
|
NM_006031.6(PCNT):c.3312+16T>G
|
|
|
NM_006031.6(PCNT):c.3312+16_3312+19dup
|
|
|
NM_006031.6(PCNT):c.3312+19T>C
|
|
|
NM_006031.6(PCNT):c.3312+20C>T
|
|
|
NM_006031.6(PCNT):c.3312+7_3312+10dup
|
|
|
NM_006031.6(PCNT):c.3313-14A>G
|
|
|
NM_006031.6(PCNT):c.3313-15C>G
|
|
|
NM_006031.6(PCNT):c.3313-5G>A
|
|
|
NM_006031.6(PCNT):c.3313-5G>C
|
|
|
NM_006031.6(PCNT):c.3313-6C>T
|
|
|
NM_006031.6(PCNT):c.3313-8C>T
|
|
|
NM_006031.6(PCNT):c.3328T>C (p.Leu1110=)
|
|
|
NM_006031.6(PCNT):c.3330A>G (p.Leu1110=)
|
|
|
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=)
|
rs2085811037
|
|
NM_006031.6(PCNT):c.3336A>G (p.Leu1112=)
|
|
|
NM_006031.6(PCNT):c.3342C>T (p.His1114=)
|
|
|
NM_006031.6(PCNT):c.3345G>A (p.Glu1115=)
|
|
|
NM_006031.6(PCNT):c.3354G>A (p.Glu1118=)
|
|
|
NM_006031.6(PCNT):c.3360C>T (p.Arg1120=)
|
|
|
NM_006031.6(PCNT):c.3367T>C (p.Leu1123=)
|
|
|
NM_006031.6(PCNT):c.3369G>A (p.Leu1123=)
|
|
|
NM_006031.6(PCNT):c.3372G>A (p.Glu1124=)
|
|
|
NM_006031.6(PCNT):c.3375G>A (p.Val1125=)
|
|
|
NM_006031.6(PCNT):c.3376C>T (p.Leu1126=)
|
|
|
NM_006031.6(PCNT):c.3378G>A (p.Leu1126=)
|
|
|
NM_006031.6(PCNT):c.33G>A (p.Lys11=)
|
|
|
NM_006031.6(PCNT):c.3402C>T (p.Asn1134=)
|
|
|
NM_006031.6(PCNT):c.3404G>A (p.Arg1135Gln)
|
|
|
NM_006031.6(PCNT):c.3420C>G (p.Leu1140=)
|
|
|
NM_006031.6(PCNT):c.3438C>T (p.Ala1146=)
|
|
|
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=)
|
rs201652457
|
|
NM_006031.6(PCNT):c.3453C>A (p.Ser1151=)
|
|
|
NM_006031.6(PCNT):c.3459C>T (p.Ser1153=)
|
|
|
NM_006031.6(PCNT):c.345G>A (p.Glu115=)
|
|
|
NM_006031.6(PCNT):c.3464+12C>T
|
|
|
NM_006031.6(PCNT):c.3464+14C>A
|
|
|
NM_006031.6(PCNT):c.3464+15G>A
|
|
|
NM_006031.6(PCNT):c.3464+17C>T
|
|
|
NM_006031.6(PCNT):c.3464+19C>G
|
|
|
NM_006031.6(PCNT):c.3464+19C>T
|
|
|
NM_006031.6(PCNT):c.3464+20C>G
|
|
|
NM_006031.6(PCNT):c.3464+20C>T
|
|
|
NM_006031.6(PCNT):c.3465-12C>G
|
|
|
NM_006031.6(PCNT):c.3465-14G>A
|
|
|
NM_006031.6(PCNT):c.3465-16G>T
|
|
|
NM_006031.6(PCNT):c.3465-20A>G
|
|
|
NM_006031.6(PCNT):c.3465-8T>C
|
rs997591754
|
|
NM_006031.6(PCNT):c.3471C>T (p.Ala1157=)
|
|
|
NM_006031.6(PCNT):c.3480C>T (p.Asp1160=)
|
|
|
NM_006031.6(PCNT):c.3483C>T (p.Ala1161=)
|
|
|
NM_006031.6(PCNT):c.3510A>G (p.Gly1170=)
|
|
|
NM_006031.6(PCNT):c.3516G>A (p.Thr1172=)
|
|
|
NM_006031.6(PCNT):c.3531C>G (p.Val1177=)
|
|
|
NM_006031.6(PCNT):c.3535C>T (p.Leu1179=)
|
|
|
NM_006031.6(PCNT):c.354G>C (p.Gly118=)
|
|
|
NM_006031.6(PCNT):c.3558C>G (p.Arg1186=)
|
|
|
NM_006031.6(PCNT):c.3558C>T (p.Arg1186=)
|
|
|
NM_006031.6(PCNT):c.3567C>T (p.Leu1189=)
|
|
|
NM_006031.6(PCNT):c.3579C>T (p.Asp1193=)
|
|
|
NM_006031.6(PCNT):c.3582G>A (p.Ala1194=)
|
|
|
NM_006031.6(PCNT):c.3582G>T (p.Ala1194=)
|
|
|
NM_006031.6(PCNT):c.3585C>T (p.Gly1195=)
|
|
|
NM_006031.6(PCNT):c.3588A>T (p.Ala1196=)
|
|
|
NM_006031.6(PCNT):c.3597C>G (p.Ala1199=)
|
|
|
NM_006031.6(PCNT):c.3597C>T (p.Ala1199=)
|
|
|
NM_006031.6(PCNT):c.3600G>A (p.Leu1200=)
|
|
|
NM_006031.6(PCNT):c.3603G>A (p.Ser1201=)
|
|
|
NM_006031.6(PCNT):c.3603G>T (p.Ser1201=)
|
|
|
NM_006031.6(PCNT):c.3607+11C>T
|
|
|
NM_006031.6(PCNT):c.3607+14G>A
|
|
|
NM_006031.6(PCNT):c.3607+15A>T
|
|
|
NM_006031.6(PCNT):c.3607+19G>C
|
|
|
NM_006031.6(PCNT):c.3608-10C>T
|
|
|
NM_006031.6(PCNT):c.3608-18C>T
|
|
|
NM_006031.6(PCNT):c.3608-9A>G
|
|
|
NM_006031.6(PCNT):c.3612G>A (p.Pro1204=)
|
|
|
NM_006031.6(PCNT):c.3612G>T (p.Pro1204=)
|
|
|
NM_006031.6(PCNT):c.3615G>T (p.Ala1205=)
|
|
|
NM_006031.6(PCNT):c.3621G>A (p.Glu1207=)
|
|
|
NM_006031.6(PCNT):c.3624G>A (p.Glu1208=)
|
|
|
NM_006031.6(PCNT):c.3627A>G (p.Thr1209=)
|
|
|
NM_006031.6(PCNT):c.3636T>C (p.Asp1212=)
|
|
|
NM_006031.6(PCNT):c.3651G>A (p.Glu1217=)
|
|
|
NM_006031.6(PCNT):c.3652T>C (p.Leu1218=)
|
|
|
NM_006031.6(PCNT):c.3654G>A (p.Leu1218=)
|
|
|
NM_006031.6(PCNT):c.366C>G (p.Val122=)
|
|
|
NM_006031.6(PCNT):c.3678A>G (p.Ala1226=)
|
|
|
NM_006031.6(PCNT):c.3699A>G (p.Glu1233=)
|
|
|
NM_006031.6(PCNT):c.36G>A (p.Val12=)
|
|
|
NM_006031.6(PCNT):c.3735C>A (p.Ser1245Arg)
|
|
|
NM_006031.6(PCNT):c.3744T>C (p.Ser1248=)
|
|
|
NM_006031.6(PCNT):c.3747G>T (p.Val1249=)
|
|
|
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=)
|
rs886057184
|
|
NM_006031.6(PCNT):c.3765C>T (p.Pro1255=)
|
|
|
NM_006031.6(PCNT):c.3768C>T (p.Ile1256=)
|
|
|
NM_006031.6(PCNT):c.3771G>T (p.Arg1257=)
|
|
|
NM_006031.6(PCNT):c.3780C>T (p.Phe1260=)
|
|
|
NM_006031.6(PCNT):c.3789C>T (p.Leu1263=)
|
|
|
NM_006031.6(PCNT):c.3804C>T (p.Asp1268=)
|
|
|
NM_006031.6(PCNT):c.3810C>T (p.Leu1270=)
|
rs1189912868
|
|
NM_006031.6(PCNT):c.3822C>T (p.Ala1274=)
|
|
|
NM_006031.6(PCNT):c.3831C>T (p.Ser1277=)
|
rs1156521433
|
|
NM_006031.6(PCNT):c.3834C>T (p.Ser1278=)
|
|
|
NM_006031.6(PCNT):c.3840+14T>G
|
|
|
NM_006031.6(PCNT):c.3840+17C>T
|
|
|
NM_006031.6(PCNT):c.3840+18G>A
|
|
|
NM_006031.6(PCNT):c.3840+20G>C
|
|
|
NM_006031.6(PCNT):c.3840+9C>T
|
|
|
NM_006031.6(PCNT):c.3841-10G>A
|
|
|
NM_006031.6(PCNT):c.3841-12G>A
|
|
|
NM_006031.6(PCNT):c.3841-16A>G
|
|
|
NM_006031.6(PCNT):c.3841-19T>G
|
|
|
NM_006031.6(PCNT):c.3841-9T>A
|
|
|
NM_006031.6(PCNT):c.3843G>A (p.Leu1281=)
|
|
|
NM_006031.6(PCNT):c.3849A>G (p.Glu1283=)
|
|
|
NM_006031.6(PCNT):c.3867T>C (p.Ser1289=)
|
|
|
NM_006031.6(PCNT):c.3870T>A (p.Arg1290=)
|
|
|
NM_006031.6(PCNT):c.3882A>G (p.Glu1294=)
|
|
|
NM_006031.6(PCNT):c.3927C>T (p.His1309=)
|
|
|
NM_006031.6(PCNT):c.3936G>T (p.Leu1312=)
|
|
|
NM_006031.6(PCNT):c.3939G>A (p.Leu1313=)
|
|
|
NM_006031.6(PCNT):c.3951G>A (p.Lys1317=)
|
|
|
NM_006031.6(PCNT):c.3957G>A (p.Glu1319=)
|
|
|
NM_006031.6(PCNT):c.3960C>T (p.Ser1320=)
|
|
|
NM_006031.6(PCNT):c.3978G>A (p.Leu1326=)
|
|
|
NM_006031.6(PCNT):c.3981G>A (p.Ala1327=)
|
|
|
NM_006031.6(PCNT):c.3988C>T (p.Leu1330=)
|
|
|
NM_006031.6(PCNT):c.3990G>A (p.Leu1330=)
|
|
|
NM_006031.6(PCNT):c.4003+10A>G
|
|
|
NM_006031.6(PCNT):c.4003+16C>A
|
|
|
NM_006031.6(PCNT):c.4003+17C>G
|
|
|
NM_006031.6(PCNT):c.4003+19C>T
|
|
|
NM_006031.6(PCNT):c.4003+20G>A
|
|
|
NM_006031.6(PCNT):c.4003+7A>G
|
|
|
NM_006031.6(PCNT):c.4003+9C>G
|
|
|
NM_006031.6(PCNT):c.4004-15G>C
|
|
|
NM_006031.6(PCNT):c.4004-18T>C
|
|
|
NM_006031.6(PCNT):c.4004-8C>G
|
|
|
NM_006031.6(PCNT):c.4008C>G (p.Thr1336=)
|
|
|
NM_006031.6(PCNT):c.4020C>T (p.Phe1340=)
|
|
|
NM_006031.6(PCNT):c.4029G>A (p.Glu1343=)
|
|
|
NM_006031.6(PCNT):c.4032A>G (p.Thr1344=)
|
|
|
NM_006031.6(PCNT):c.4032A>T (p.Thr1344=)
|
|
|
NM_006031.6(PCNT):c.4039C>T (p.Leu1347=)
|
|
|
NM_006031.6(PCNT):c.4041G>C (p.Leu1347=)
|
|
|
NM_006031.6(PCNT):c.4044G>A (p.Lys1348=)
|
|
|
NM_006031.6(PCNT):c.4071C>T (p.Ser1357=)
|
|
|
NM_006031.6(PCNT):c.4077C>T (p.His1359=)
|
|
|
NM_006031.6(PCNT):c.4083G>C (p.Leu1361=)
|
rs368626471
|
|
NM_006031.6(PCNT):c.4098G>A (p.Glu1366=)
|
|
|
NM_006031.6(PCNT):c.4119G>A (p.Gln1373=)
|
|
|
NM_006031.6(PCNT):c.4125G>A (p.Ala1375=)
|
|
|
NM_006031.6(PCNT):c.4128C>G (p.Ala1376=)
|
|
|
NM_006031.6(PCNT):c.4134G>A (p.Glu1378=)
|
|
|
NM_006031.6(PCNT):c.4140G>T (p.Ala1380=)
|
|
|
NM_006031.6(PCNT):c.4176G>T (p.Arg1392=)
|
|
|
NM_006031.6(PCNT):c.4185C>G (p.Ala1395=)
|
|
|
NM_006031.6(PCNT):c.4194G>A (p.Thr1398=)
|
|
|
NM_006031.6(PCNT):c.4200C>T (p.Ala1400=)
|
|
|
NM_006031.6(PCNT):c.4209A>G (p.Arg1403=)
|
|
|
NM_006031.6(PCNT):c.420A>G (p.Pro140=)
|
rs527413251
|
|
NM_006031.6(PCNT):c.4216+10G>A
|
|
|
NM_006031.6(PCNT):c.4216+12G>A
|
|
|
NM_006031.6(PCNT):c.4216+17G>C
|
|
|
NM_006031.6(PCNT):c.4216+21_4216+39dup
|
|
|
NM_006031.6(PCNT):c.4216+8G>T
|
|
|
NM_006031.6(PCNT):c.4217-19G>A
|
|
|
NM_006031.6(PCNT):c.4217-6C>T
|
|
|
NM_006031.6(PCNT):c.4217-7T>C
|
|
|
NM_006031.6(PCNT):c.4221C>T (p.Leu1407=)
|
|
|
NM_006031.6(PCNT):c.423A>G (p.Glu141=)
|
|
|
NM_006031.6(PCNT):c.4245C>G (p.Thr1415=)
|
|
|
NM_006031.6(PCNT):c.4248A>G (p.Lys1416=)
|
|
|
NM_006031.6(PCNT):c.4257G>A (p.Ser1419=)
|
|
|
NM_006031.6(PCNT):c.4263C>T (p.Thr1421=)
|
|
|
NM_006031.6(PCNT):c.4281G>A (p.Lys1427=)
|
|
|
NM_006031.6(PCNT):c.4294C>T (p.Leu1432=)
|
|
|
NM_006031.6(PCNT):c.4299C>T (p.Leu1433=)
|
|
|
NM_006031.6(PCNT):c.4302C>A (p.Ser1434=)
|
|
|
NM_006031.6(PCNT):c.4305G>A (p.Gln1435=)
|
|
|
NM_006031.6(PCNT):c.4339C>T (p.Leu1447=)
|
|
|
NM_006031.6(PCNT):c.4353C>T (p.Arg1451=)
|
|
|
NM_006031.6(PCNT):c.4356G>A (p.Gly1452=)
|
|
|
NM_006031.6(PCNT):c.4374G>A (p.Glu1458=)
|
|
|
NM_006031.6(PCNT):c.4377C>G (p.Ala1459=)
|
|
|
NM_006031.6(PCNT):c.4377C>T (p.Ala1459=)
|
rs552768332
|
|
NM_006031.6(PCNT):c.4389G>T (p.Leu1463=)
|
|
|
NM_006031.6(PCNT):c.4408C>T (p.Leu1470=)
|
|
|
NM_006031.6(PCNT):c.4425C>T (p.Arg1475=)
|
|
|
NM_006031.6(PCNT):c.4440C>T (p.Phe1480=)
|
|
|
NM_006031.6(PCNT):c.4446+14A>G
|
|
|
NM_006031.6(PCNT):c.4446+15T>G
|
|
|
NM_006031.6(PCNT):c.4446+17A>G
|
|
|
NM_006031.6(PCNT):c.4446+17_4446+19del
|
|
|
NM_006031.6(PCNT):c.4446+7A>T
|
|
|
NM_006031.6(PCNT):c.4447-14G>C
|
|
|
NM_006031.6(PCNT):c.4447-15T>C
|
|
|
NM_006031.6(PCNT):c.4447-16C>T
|
|
|
NM_006031.6(PCNT):c.4447-17G>A
|
|
|
NM_006031.6(PCNT):c.4447-17G>T
|
|
|
NM_006031.6(PCNT):c.4447-4C>T
|
|
|
NM_006031.6(PCNT):c.4455A>T (p.Ala1485=)
|
|
|
NM_006031.6(PCNT):c.4458C>T (p.Ala1486=)
|
|
|
NM_006031.6(PCNT):c.4470C>T (p.His1490=)
|
|
|
NM_006031.6(PCNT):c.4476C>T (p.Arg1492=)
|
|
|
NM_006031.6(PCNT):c.4482G>A (p.Glu1494=)
|
|
|
NM_006031.6(PCNT):c.4506G>A (p.Leu1502=)
|
|
|
NM_006031.6(PCNT):c.4518C>T (p.Leu1506=)
|
|
|
NM_006031.6(PCNT):c.4521C>A (p.Arg1507=)
|
|
|
NM_006031.6(PCNT):c.4530C>G (p.Ala1510=)
|
|
|
NM_006031.6(PCNT):c.4536G>A (p.Pro1512=)
|
|
|
NM_006031.6(PCNT):c.4551T>C (p.Pro1517=)
|
rs762692764
|
|
NM_006031.6(PCNT):c.4554C>G (p.Arg1518=)
|
|
|
NM_006031.6(PCNT):c.4557C>T (p.Asp1519=)
|
rs768029500
|
|
NM_006031.6(PCNT):c.4563+13A>G
|
|
|
NM_006031.6(PCNT):c.4563+14G>A
|
|
|
NM_006031.6(PCNT):c.4563+16G>A
|
|
|
NM_006031.6(PCNT):c.4563+16G>T
|
|
|
NM_006031.6(PCNT):c.4564-13A>G
|
|
|
NM_006031.6(PCNT):c.4564-14C>T
|
|
|
NM_006031.6(PCNT):c.4564-16T>C
|
|
|
NM_006031.6(PCNT):c.4564-18T>C
|
|
|
NM_006031.6(PCNT):c.4564-19A>G
|
|
|
NM_006031.6(PCNT):c.4564-4G>A
|
|
|
NM_006031.6(PCNT):c.4564-6C>G
|
|
|
NM_006031.6(PCNT):c.4564-6C>T
|
|
|
NM_006031.6(PCNT):c.4569G>A (p.Ala1523=)
|
|
|
NM_006031.6(PCNT):c.4584+10C>T
|
|
|
NM_006031.6(PCNT):c.4584+11G>A
|
rs752879780
|
|
NM_006031.6(PCNT):c.4584+11G>C
|
rs752879780
|
|
NM_006031.6(PCNT):c.4584+14_4584+16del
|
|
|
NM_006031.6(PCNT):c.4584+16C>T
|
|
|
NM_006031.6(PCNT):c.4584+17G>A
|
|
|
NM_006031.6(PCNT):c.4584+7_4584+9del
|
|
|
NM_006031.6(PCNT):c.4585-10G>A
|
|
|
NM_006031.6(PCNT):c.4585-13T>G
|
|
|
NM_006031.6(PCNT):c.4585-4T>C
|
|
|
NM_006031.6(PCNT):c.45G>A (p.Gly15=)
|
|
|
NM_006031.6(PCNT):c.45G>C (p.Gly15=)
|
|
|
NM_006031.6(PCNT):c.4605G>A (p.Lys1535=)
|
|
|
NM_006031.6(PCNT):c.4611A>G (p.Arg1537=)
|
rs587784305
|
|
NM_006031.6(PCNT):c.4618T>C (p.Leu1540=)
|
|
|
NM_006031.6(PCNT):c.4620G>A (p.Leu1540=)
|
|
|
NM_006031.6(PCNT):c.4629T>C (p.Phe1543=)
|
|
|
NM_006031.6(PCNT):c.4641T>C (p.Ala1547=)
|
|
|
NM_006031.6(PCNT):c.4650A>G (p.Lys1550=)
|
|
|
NM_006031.6(PCNT):c.4656G>A (p.Ser1552=)
|
|
|
NM_006031.6(PCNT):c.465G>A (p.Gln155=)
|
|
|
NM_006031.6(PCNT):c.4662T>C (p.Asp1554=)
|
|
|
NM_006031.6(PCNT):c.4692T>A (p.Ile1564=)
|
|
|
NM_006031.6(PCNT):c.46A>C (p.Arg16=)
|
|
|
NM_006031.6(PCNT):c.4716C>T (p.Ile1572=)
|
|
|
NM_006031.6(PCNT):c.4719C>T (p.Asn1573=)
|
|
|
NM_006031.6(PCNT):c.471G>C (p.Gly157=)
|
rs1301515712
|
|
NM_006031.6(PCNT):c.4734G>C (p.Val1578=)
|
|
|
NM_006031.6(PCNT):c.4743C>A (p.Leu1581=)
|
|
|
NM_006031.6(PCNT):c.4743C>G (p.Leu1581=)
|
|
|
NM_006031.6(PCNT):c.4749A>G (p.Glu1583=)
|
|
|
NM_006031.6(PCNT):c.4755G>A (p.Val1585=)
|
|
|
NM_006031.6(PCNT):c.4773C>T (p.Ile1591=)
|
|
|
NM_006031.6(PCNT):c.477C>T (p.Phe159=)
|
|
|
NM_006031.6(PCNT):c.4791+7C>T
|
|
|
NM_006031.6(PCNT):c.4792-13T>C
|
|
|
NM_006031.6(PCNT):c.4792-16C>A
|
|
|
NM_006031.6(PCNT):c.4792-16C>T
|
|
|
NM_006031.6(PCNT):c.4792-4del
|
|
|
NM_006031.6(PCNT):c.4792-6T>A
|
|
|
NM_006031.6(PCNT):c.4792-6T>C
|
|
|
NM_006031.6(PCNT):c.4792-8T>C
|
|
|
NM_006031.6(PCNT):c.4803G>A (p.Val1601=)
|
|
|
NM_006031.6(PCNT):c.4809G>A (p.Lys1603=)
|
|
|
NM_006031.6(PCNT):c.4818G>A (p.Gln1606=)
|
|
|
NM_006031.6(PCNT):c.4839G>A (p.Ala1613=)
|
|
|
NM_006031.6(PCNT):c.4839G>C (p.Ala1613=)
|
|
|
NM_006031.6(PCNT):c.483C>G (p.Val161=)
|
|
|
NM_006031.6(PCNT):c.4845G>A (p.Thr1615=)
|
|
|
NM_006031.6(PCNT):c.4857A>G (p.Thr1619=)
|
|
|
NM_006031.6(PCNT):c.4872A>G (p.Arg1624=)
|
|
|
NM_006031.6(PCNT):c.4890G>A (p.Ser1630=)
|
|
|
NM_006031.6(PCNT):c.489C>T (p.Asp163=)
|
|
|
NM_006031.6(PCNT):c.4938A>G (p.Arg1646=)
|
|
|
NM_006031.6(PCNT):c.4941A>G (p.Ala1647=)
|
|
|
NM_006031.6(PCNT):c.4945C>T (p.Leu1649=)
|
|
|
NM_006031.6(PCNT):c.4959C>T (p.Ser1653=)
|
|
|
NM_006031.6(PCNT):c.4962+11A>C
|
|
|
NM_006031.6(PCNT):c.4962+14G>A
|
|
|
NM_006031.6(PCNT):c.4962+17G>A
|
|
|
NM_006031.6(PCNT):c.4962+20A>G
|
|
|
NM_006031.6(PCNT):c.4963-16_4963-14del
|
|
|
NM_006031.6(PCNT):c.4963-18C>G
|
|
|
NM_006031.6(PCNT):c.4963-8A>G
|
|
|
NM_006031.6(PCNT):c.4963-9T>G
|
|
|
NM_006031.6(PCNT):c.4980A>G (p.Glu1660=)
|
|
|
NM_006031.6(PCNT):c.4986A>G (p.Leu1662=)
|
|
|
NM_006031.6(PCNT):c.5004C>T (p.Asp1668=)
|
|
|
NM_006031.6(PCNT):c.501A>G (p.Glu167=)
|
|
|
NM_006031.6(PCNT):c.5029C>T (p.Leu1677=)
|
|
|
NM_006031.6(PCNT):c.5034T>C (p.His1678=)
|
|
|
NM_006031.6(PCNT):c.5047T>C (p.Leu1683=)
|
rs145305649
|
|
NM_006031.6(PCNT):c.5073T>C (p.Ala1691=)
|
rs570456724
|
|
NM_006031.6(PCNT):c.5097A>G (p.Glu1699=)
|
|
|
NM_006031.6(PCNT):c.5103C>T (p.Asn1701=)
|
|
|
NM_006031.6(PCNT):c.5106G>A (p.Thr1702=)
|
|
|
NM_006031.6(PCNT):c.5106G>C (p.Thr1702=)
|
|
|
NM_006031.6(PCNT):c.5110T>C (p.Leu1704=)
|
|
|
NM_006031.6(PCNT):c.5115+20C>T
|
|
|
NM_006031.6(PCNT):c.5115+9C>A
|
|
|
NM_006031.6(PCNT):c.5116-12C>G
|
|
|
NM_006031.6(PCNT):c.5116-17A>G
|
|
|
NM_006031.6(PCNT):c.5116-6C>T
|
|
|
NM_006031.6(PCNT):c.5128A>C (p.Arg1710=)
|
|
|
NM_006031.6(PCNT):c.5142T>C (p.Ile1714=)
|
|
|
NM_006031.6(PCNT):c.5145A>G (p.Glu1715=)
|
|
|
NM_006031.6(PCNT):c.5172G>T (p.Leu1724=)
|
|
|
NM_006031.6(PCNT):c.5175A>G (p.Gln1725=)
|
rs750305466
|
|
NM_006031.6(PCNT):c.519_520insGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACA (p.Val161_Thr173dup)
|
rs769893798
|
|
NM_006031.6(PCNT):c.51G>C (p.Thr17=)
|
|
|
NM_006031.6(PCNT):c.5208A>C (p.Ala1736=)
|
|
|
NM_006031.6(PCNT):c.520_558del (p.Ile174_Thr186del)
|
rs1569163286
|
|
NM_006031.6(PCNT):c.5223A>G (p.Gln1741=)
|
|
|
NM_006031.6(PCNT):c.5235C>T (p.Val1745=)
|
|
|
NM_006031.6(PCNT):c.5247G>C (p.Leu1749=)
|
|
|
NM_006031.6(PCNT):c.5253C>T (p.His1751=)
|
rs114799541
|
|
NM_006031.6(PCNT):c.5280G>A (p.Val1760=)
|
|
|
NM_006031.6(PCNT):c.5292C>T (p.Ser1764=)
|
|
|
NM_006031.6(PCNT):c.5310T>C (p.Ser1770=)
|
|
|
NM_006031.6(PCNT):c.5313G>A (p.Leu1771=)
|
|
|
NM_006031.6(PCNT):c.5319C>T (p.Ser1773=)
|
|
|
NM_006031.6(PCNT):c.5328C>T (p.Leu1776=)
|
|
|
NM_006031.6(PCNT):c.5331C>T (p.Cys1777=)
|
|
|
NM_006031.6(PCNT):c.5340C>G (p.Ala1780=)
|
|
|
NM_006031.6(PCNT):c.5340C>T (p.Ala1780=)
|
|
|
NM_006031.6(PCNT):c.5343G>A (p.Gly1781=)
|
|
|
NM_006031.6(PCNT):c.534A>G (p.Gln178=)
|
|
|
NM_006031.6(PCNT):c.5355G>T (p.Gly1785=)
|
|
|
NM_006031.6(PCNT):c.5361C>A (p.Ala1787=)
|
|
|
NM_006031.6(PCNT):c.5370C>A (p.Gly1790=)
|
|
|
NM_006031.6(PCNT):c.5373G>A (p.Glu1791=)
|
|
|
NM_006031.6(PCNT):c.5376C>T (p.Leu1792=)
|
rs892137240
|
|
NM_006031.6(PCNT):c.537G>A (p.Pro179=)
|
rs754732068
|
|
NM_006031.6(PCNT):c.537G>C (p.Pro179=)
|
|
|
NM_006031.6(PCNT):c.54+12G>C
|
|
|
NM_006031.6(PCNT):c.54+13G>A
|
|
|
NM_006031.6(PCNT):c.54+20T>A
|
|
|
NM_006031.6(PCNT):c.54+20T>C
|
|
|
NM_006031.6(PCNT):c.54+8_54+10del
|
|
|
NM_006031.6(PCNT):c.5409C>T (p.Ser1803=)
|
rs1386858499
|
|
NM_006031.6(PCNT):c.5424C>T (p.Asp1808=)
|
rs1602005291
|
|
NM_006031.6(PCNT):c.5433C>T (p.Arg1811=)
|
|
|
NM_006031.6(PCNT):c.5436G>A (p.Arg1812=)
|
|
|
NM_006031.6(PCNT):c.543G>A (p.Gln181=)
|
|
|
NM_006031.6(PCNT):c.5451G>A (p.Leu1817=)
|
|
|
NM_006031.6(PCNT):c.5457C>G (p.Ala1819=)
|
|
|
NM_006031.6(PCNT):c.5457C>T (p.Ala1819=)
|
|
|
NM_006031.6(PCNT):c.546T>A (p.Arg182=)
|
|
|
NM_006031.6(PCNT):c.5475G>A (p.Gln1825=)
|
|
|
NM_006031.6(PCNT):c.5478C>T (p.Gly1826=)
|
|
|
NM_006031.6(PCNT):c.5487G>A (p.Glu1829=)
|
rs1245321190
|
|
NM_006031.6(PCNT):c.5496G>A (p.Glu1832=)
|
|
|
NM_006031.6(PCNT):c.5499A>G (p.Leu1833=)
|
|
|
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)
|
|
|
NM_006031.6(PCNT):c.5514G>T (p.Leu1838=)
|
|
|
NM_006031.6(PCNT):c.5520C>T (p.Arg1840=)
|
|
|
NM_006031.6(PCNT):c.5522_5523delinsGC (p.Asn1841Ser)
|
|
|
NM_006031.6(PCNT):c.5532C>T (p.Leu1844=)
|
|
|
NM_006031.6(PCNT):c.5538G>A (p.Glu1846=)
|
|
|
NM_006031.6(PCNT):c.5544G>A (p.Glu1848=)
|
|
|
NM_006031.6(PCNT):c.5547C>A (p.Val1849=)
|
rs370410169
|
|
NM_006031.6(PCNT):c.5547C>T (p.Val1849=)
|
|
|
NM_006031.6(PCNT):c.5559C>G (p.Ala1853=)
|
|
|
NM_006031.6(PCNT):c.5562C>A (p.Ser1854=)
|
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
NM_006031.6(PCNT):c.5568C>T (p.Ile1856=)
|
|
|
NM_006031.6(PCNT):c.5577C>T (p.Phe1859=)
|
|
|
NM_006031.6(PCNT):c.5586C>A (p.Ala1862=)
|
|
|
NM_006031.6(PCNT):c.5587C>T (p.Leu1863=)
|
rs1602006314
|
|
NM_006031.6(PCNT):c.5592A>G (p.Lys1864=)
|
|
|
NM_006031.6(PCNT):c.5601A>G (p.Glu1867=)
|
|
|
NM_006031.6(PCNT):c.5619A>G (p.Arg1873=)
|
|
|
NM_006031.6(PCNT):c.5637T>C (p.Ala1879=)
|
|
|
NM_006031.6(PCNT):c.5655G>A (p.Ala1885=)
|
|
|
NM_006031.6(PCNT):c.5667C>T (p.Ala1889=)
|
|
|
NM_006031.6(PCNT):c.5679C>G (p.Ala1893=)
|
|
|
NM_006031.6(PCNT):c.5682C>T (p.Val1894=)
|
|
|
NM_006031.6(PCNT):c.5718G>A (p.Glu1906=)
|
|
|
NM_006031.6(PCNT):c.573A>C (p.Thr191=)
|
|
|
NM_006031.6(PCNT):c.5745G>A (p.Ala1915=)
|
|
|
NM_006031.6(PCNT):c.5751C>T (p.Pro1917=)
|
|
|
NM_006031.6(PCNT):c.5757G>T (p.Leu1919=)
|
rs2147675654
|
|
NM_006031.6(PCNT):c.576A>G (p.Pro192=)
|
|
|
NM_006031.6(PCNT):c.5772G>A (p.Ala1924=)
|
|
|
NM_006031.6(PCNT):c.5772G>T (p.Ala1924=)
|
|
|
NM_006031.6(PCNT):c.5787C>T (p.Leu1929=)
|
|
|
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu)
|
rs776640595
|
|
NM_006031.6(PCNT):c.5808G>A (p.Leu1936=)
|
|
|
NM_006031.6(PCNT):c.5811C>T (p.His1937=)
|
|
|
NM_006031.6(PCNT):c.5820C>T (p.Phe1940=)
|
|
|
NM_006031.6(PCNT):c.582G>A (p.Gln194=)
|
|
|
NM_006031.6(PCNT):c.5839C>T (p.Leu1947=)
|
|
|
NM_006031.6(PCNT):c.5871T>G (p.Ala1957=)
|
|
|
NM_006031.6(PCNT):c.5877A>T (p.Thr1959=)
|
|
|
NM_006031.6(PCNT):c.5886C>G (p.Pro1962=)
|
|
|
NM_006031.6(PCNT):c.5886C>T (p.Pro1962=)
|
|
|
NM_006031.6(PCNT):c.5895C>T (p.His1965=)
|
|
|
NM_006031.6(PCNT):c.5901G>A (p.Gln1967=)
|
|
|
NM_006031.6(PCNT):c.5928C>T (p.Ala1976=)
|
|
|
NM_006031.6(PCNT):c.5943C>T (p.Asp1981=)
|
|
|
NM_006031.6(PCNT):c.5955C>T (p.Ser1985=)
|
rs2147679862
|
|
NM_006031.6(PCNT):c.5967T>C (p.Ala1989=)
|
|
|
NM_006031.6(PCNT):c.5968T>C (p.Leu1990=)
|
|
|
NM_006031.6(PCNT):c.5976G>C (p.Pro1992=)
|
|
|
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
|
|
|
NM_006031.6(PCNT):c.5994+11C>A
|
|
|
NM_006031.6(PCNT):c.5994+11C>G
|
|
|
NM_006031.6(PCNT):c.5994+11C>T
|
|
|
NM_006031.6(PCNT):c.5994+13C>T
|
|
|
NM_006031.6(PCNT):c.5994+14G>A
|
|
|
NM_006031.6(PCNT):c.5994+15C>A
|
|
|
NM_006031.6(PCNT):c.5994+15C>T
|
|
|
NM_006031.6(PCNT):c.5994+16G>A
|
|
|
NM_006031.6(PCNT):c.5994+16G>C
|
|
|
NM_006031.6(PCNT):c.5994+20C>A
|
|
|
NM_006031.6(PCNT):c.5994+8C>T
|
|
|
NM_006031.6(PCNT):c.5995-13C>G
|
|
|
NM_006031.6(PCNT):c.5995-16T>C
|
|
|
NM_006031.6(PCNT):c.5995-17_5995-16del
|
|
|
NM_006031.6(PCNT):c.5995-20C>T
|
|
|
NM_006031.6(PCNT):c.5995-5T>C
|
|
|
NM_006031.6(PCNT):c.5995-6G>T
|
|
|
NM_006031.6(PCNT):c.5995-8C>T
|
|
|
NM_006031.6(PCNT):c.6015G>C (p.Leu2005=)
|
|
|
NM_006031.6(PCNT):c.6021G>A (p.Thr2007=)
|
|
|
NM_006031.6(PCNT):c.6036T>C (p.Pro2012=)
|
|
|
NM_006031.6(PCNT):c.6039C>T (p.Leu2013=)
|
|
|
NM_006031.6(PCNT):c.603T>C (p.Ser201=)
|
|
|
NM_006031.6(PCNT):c.6054C>T (p.Gly2018=)
|
|
|
NM_006031.6(PCNT):c.6069C>G (p.Leu2023=)
|
|
|
NM_006031.6(PCNT):c.6069C>T (p.Leu2023=)
|
|
|
NM_006031.6(PCNT):c.6081G>A (p.Gln2027=)
|
|
|
NM_006031.6(PCNT):c.6087G>A (p.Gln2029=)
|
|
|
NM_006031.6(PCNT):c.6111G>A (p.Val2037=)
|
rs1010254011
|
|
NM_006031.6(PCNT):c.6126C>T (p.Arg2042=)
|
|
|
NM_006031.6(PCNT):c.6135G>A (p.Leu2045=)
|
|
|
NM_006031.6(PCNT):c.6150+11G>A
|
|
|
NM_006031.6(PCNT):c.6150+11G>T
|
|
|
NM_006031.6(PCNT):c.6150+11_6150+70del
|
rs1569271924
|
|
NM_006031.6(PCNT):c.6150+15_6150+135del
|
|
|
NM_006031.6(PCNT):c.6150+16A>G
|
rs1351773151
|
|
NM_006031.6(PCNT):c.6150+17A>G
|
|
|
NM_006031.6(PCNT):c.6150+20C>T
|
|
|
NM_006031.6(PCNT):c.6150+21_6150+140del
|
|
|
NM_006031.6(PCNT):c.6150+21_6150+80del
|
|
|
NM_006031.6(PCNT):c.6150+32_6150+33insTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCC
|
|
|
NM_006031.6(PCNT):c.6150+44_6150+45insCACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTG
|
|
|
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA
|
|
|
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC
|
|
|
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGTGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC
|
|
|
NM_006031.6(PCNT):c.6150+9A>C
|
|
|
NM_006031.6(PCNT):c.6150+9A>T
|
|
|
NM_006031.6(PCNT):c.6150+9del
|
|
|
NM_006031.6(PCNT):c.6151-10T>C
|
|
|
NM_006031.6(PCNT):c.6151-14T>C
|
|
|
NM_006031.6(PCNT):c.6151-15C>G
|
|
|
NM_006031.6(PCNT):c.6151-15C>T
|
|
|
NM_006031.6(PCNT):c.6151-18G>A
|
|
|
NM_006031.6(PCNT):c.6151-4G>A
|
|
|
NM_006031.6(PCNT):c.6151-4G>T
|
|
|
NM_006031.6(PCNT):c.6151-6C>G
|
|
|
NM_006031.6(PCNT):c.6151-7C>T
|
|
|
NM_006031.6(PCNT):c.6162A>G (p.Lys2054=)
|
|
|
NM_006031.6(PCNT):c.6165A>G (p.Val2055=)
|
|
|
NM_006031.6(PCNT):c.6166C>T (p.Leu2056=)
|
rs2147768991
|
|
NM_006031.6(PCNT):c.6181C>T (p.Leu2061=)
|
|
|
NM_006031.6(PCNT):c.6186G>A (p.Pro2062=)
|
|
|
NM_006031.6(PCNT):c.6186G>C (p.Pro2062=)
|
|
|
NM_006031.6(PCNT):c.6198C>T (p.Leu2066=)
|
|
|
NM_006031.6(PCNT):c.6225A>G (p.Glu2075=)
|
|
|
NM_006031.6(PCNT):c.6240G>A (p.Leu2080=)
|
|
|
NM_006031.6(PCNT):c.6243G>C (p.Leu2081=)
|
|
|
NM_006031.6(PCNT):c.6258C>T (p.Phe2086=)
|
|
|
NM_006031.6(PCNT):c.6267G>A (p.Val2089=)
|
|
|
NM_006031.6(PCNT):c.6270T>C (p.Asp2090=)
|
rs749943104
|
|
NM_006031.6(PCNT):c.6273T>C (p.Ala2091=)
|
|
|
NM_006031.6(PCNT):c.6279C>T (p.Asp2093=)
|
|
|
NM_006031.6(PCNT):c.6291G>A (p.Leu2097=)
|
|
|
NM_006031.6(PCNT):c.6306A>G (p.Ser2102=)
|
|
|
NM_006031.6(PCNT):c.6309A>G (p.Ala2103=)
|
|
|
NM_006031.6(PCNT):c.6315G>C (p.Leu2105=)
|
|
|
NM_006031.6(PCNT):c.6324C>T (p.Ser2108=)
|
|
|
NM_006031.6(PCNT):c.6342C>A (p.Ser2114=)
|
|
|
NM_006031.6(PCNT):c.6345T>C (p.Cys2115=)
|
|
|
NM_006031.6(PCNT):c.6369A>G (p.Ser2123=)
|
|
|
NM_006031.6(PCNT):c.636A>G (p.Thr212=)
|
|
|
NM_006031.6(PCNT):c.6372C>T (p.Pro2124=)
|
|
|
NM_006031.6(PCNT):c.6381C>T (p.Asp2127=)
|
|
|
NM_006031.6(PCNT):c.639+16T>C
|
|
|
NM_006031.6(PCNT):c.639+20T>A
|
|
|
NM_006031.6(PCNT):c.639+8T>C
|
|
|
NM_006031.6(PCNT):c.639+9T>C
|
|
|
NM_006031.6(PCNT):c.640-12T>A
|
|
|
NM_006031.6(PCNT):c.640-4C>T
|
|
|
NM_006031.6(PCNT):c.640-8T>G
|
rs587784314
|
|
NM_006031.6(PCNT):c.6405G>A (p.Thr2135=)
|
|
|
NM_006031.6(PCNT):c.6408G>A (p.Gly2136=)
|
|
|
NM_006031.6(PCNT):c.642G>A (p.Glu214=)
|
|
|
NM_006031.6(PCNT):c.6435G>A (p.Gln2145=)
|
|
|
NM_006031.6(PCNT):c.6438C>T (p.Ala2146=)
|
|
|
NM_006031.6(PCNT):c.6444C>T (p.Asp2148=)
|
|
|
NM_006031.6(PCNT):c.6447G>T (p.Ala2149=)
|
|
|
NM_006031.6(PCNT):c.6462A>G (p.Thr2154=)
|
|
|
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=)
|
rs886057189
|
|
NM_006031.6(PCNT):c.6480T>C (p.Thr2160=)
|
|
|
NM_006031.6(PCNT):c.6489C>A (p.Ile2163=)
|
|
|
NM_006031.6(PCNT):c.6519A>G (p.Glu2173=)
|
|
|
NM_006031.6(PCNT):c.651A>G (p.Gln217=)
|
|
|
NM_006031.6(PCNT):c.6534C>G (p.Pro2178=)
|
|
|
NM_006031.6(PCNT):c.6549A>G (p.Ser2183=)
|
|
|
NM_006031.6(PCNT):c.654A>G (p.Glu218=)
|
|
|
NM_006031.6(PCNT):c.6561C>T (p.Asp2187=)
|
|
|
NM_006031.6(PCNT):c.6570T>C (p.Leu2190=)
|
|
|
NM_006031.6(PCNT):c.6603C>T (p.Arg2201=)
|
|
|
NM_006031.6(PCNT):c.6606C>T (p.His2202=)
|
|
|
NM_006031.6(PCNT):c.6612C>T (p.Ser2204=)
|
|
|
NM_006031.6(PCNT):c.6621A>C (p.Ala2207=)
|
|
|
NM_006031.6(PCNT):c.6630G>A (p.Gly2210=)
|
|
|
NM_006031.6(PCNT):c.6639G>A (p.Lys2213=)
|
|
|
NM_006031.6(PCNT):c.6642C>T (p.Ser2214=)
|
|
|
NM_006031.6(PCNT):c.6651G>A (p.Gly2217=)
|
rs755119869
|
|
NM_006031.6(PCNT):c.6660C>T (p.Asp2220=)
|
|
|
NM_006031.6(PCNT):c.6675C>T (p.Ser2225=)
|
|
|
NM_006031.6(PCNT):c.6678C>T (p.Ser2226=)
|
|
|
NM_006031.6(PCNT):c.6690C>T (p.Leu2230=)
|
|
|
NM_006031.6(PCNT):c.6720C>T (p.Pro2240=)
|
|
|
NM_006031.6(PCNT):c.6735A>T (p.Thr2245=)
|
|
|
NM_006031.6(PCNT):c.6741C>T (p.His2247=)
|
|
|
NM_006031.6(PCNT):c.6756C>T (p.Ser2252=)
|
|
|
NM_006031.6(PCNT):c.6762C>T (p.Cys2254=)
|
|
|
NM_006031.6(PCNT):c.676C>T (p.Leu226=)
|
|
|
NM_006031.6(PCNT):c.6780G>C (p.Leu2260=)
|
|
|
NM_006031.6(PCNT):c.6783G>A (p.Gly2261=)
|
|
|
NM_006031.6(PCNT):c.6786C>T (p.Asp2262=)
|
|
|
NM_006031.6(PCNT):c.6801G>A (p.Ser2267=)
|
|
|
NM_006031.6(PCNT):c.6831T>C (p.Leu2277=)
|
|
|
NM_006031.6(PCNT):c.6840A>G (p.Pro2280=)
|
|
|
NM_006031.6(PCNT):c.684C>T (p.Ser228=)
|
|
|
NM_006031.6(PCNT):c.6852A>G (p.Ala2284=)
|
|
|
NM_006031.6(PCNT):c.6858G>A (p.Ala2286=)
|
|
|
NM_006031.6(PCNT):c.6861G>A (p.Leu2287=)
|
|
|
NM_006031.6(PCNT):c.6864A>C (p.Ala2288=)
|
|
|
NM_006031.6(PCNT):c.687C>T (p.Gly229=)
|
|
|
NM_006031.6(PCNT):c.6882T>C (p.Ser2294=)
|
|
|
NM_006031.6(PCNT):c.6888G>T (p.Pro2296=)
|
|
|
NM_006031.6(PCNT):c.6903T>C (p.His2301=)
|
|
|
NM_006031.6(PCNT):c.6915G>A (p.Thr2305=)
|
|
|
NM_006031.6(PCNT):c.6921+13T>C
|
|
|
NM_006031.6(PCNT):c.6921+13T>G
|
|
|
NM_006031.6(PCNT):c.6921+14C>G
|
|
|
NM_006031.6(PCNT):c.6921+20C>T
|
|
|
NM_006031.6(PCNT):c.6922-11T>C
|
|
|
NM_006031.6(PCNT):c.6922-17dup
|
|
|
NM_006031.6(PCNT):c.6922-20A>G
|
|
|
NM_006031.6(PCNT):c.6922-6T>C
|
|
|
NM_006031.6(PCNT):c.6922-7_6922-6del
|
|
|
NM_006031.6(PCNT):c.6922-8_6922-7del
|
|
|
NM_006031.6(PCNT):c.6922-9T>A
|
|
|
NM_006031.6(PCNT):c.6975A>G (p.Leu2325=)
|
|
|
NM_006031.6(PCNT):c.6981A>G (p.Ser2327=)
|
|
|
NM_006031.6(PCNT):c.6981A>T (p.Ser2327=)
|
|
|
NM_006031.6(PCNT):c.6984T>A (p.Pro2328=)
|
|
|
NM_006031.6(PCNT):c.7024+12A>G
|
|
|
NM_006031.6(PCNT):c.7024+19A>G
|
|
|
NM_006031.6(PCNT):c.7024+20T>C
|
|
|
NM_006031.6(PCNT):c.7025-15C>T
|
|
|
NM_006031.6(PCNT):c.7025-16C>T
|
|
|
NM_006031.6(PCNT):c.7025-8G>A
|
|
|
NM_006031.6(PCNT):c.7059G>A (p.Pro2353=)
|
rs149413536
|
|
NM_006031.6(PCNT):c.7059G>C (p.Pro2353=)
|
|
|
NM_006031.6(PCNT):c.7062G>A (p.Gly2354=)
|
|
|
NM_006031.6(PCNT):c.7062G>C (p.Gly2354=)
|
|
|
NM_006031.6(PCNT):c.7062G>T (p.Gly2354=)
|
|
|
NM_006031.6(PCNT):c.7071C>G (p.Gly2357=)
|
rs1211115206
|
|
NM_006031.6(PCNT):c.708G>T (p.Leu236=)
|
|
|
NM_006031.6(PCNT):c.7131G>A (p.Pro2377=)
|
|
|
NM_006031.6(PCNT):c.7131G>T (p.Pro2377=)
|
|
|
NM_006031.6(PCNT):c.7134G>C (p.Leu2378=)
|
|
|
NM_006031.6(PCNT):c.7137G>A (p.Pro2379=)
|
|
|
NM_006031.6(PCNT):c.7140A>G (p.Glu2380=)
|
|
|
NM_006031.6(PCNT):c.7173C>T (p.His2391=)
|
|
|
NM_006031.6(PCNT):c.7179+11C>T
|
|
|
NM_006031.6(PCNT):c.7179+12del
|
|
|
NM_006031.6(PCNT):c.7179+16G>A
|
|
|
NM_006031.6(PCNT):c.7180-10C>G
|
|
|
NM_006031.6(PCNT):c.7180-17G>A
|
|
|
NM_006031.6(PCNT):c.7180-17G>C
|
|
|
NM_006031.6(PCNT):c.7180-18C>T
|
|
|
NM_006031.6(PCNT):c.7180-5_7180-4insTCCGCC
|
|
|
NM_006031.6(PCNT):c.7180-7G>T
|
|
|
NM_006031.6(PCNT):c.7180-8C>G
|
|
|
NM_006031.6(PCNT):c.7188G>A (p.Leu2396=)
|
|
|
NM_006031.6(PCNT):c.7197G>A (p.Val2399=)
|
|
|
NM_006031.6(PCNT):c.720+10C>T
|
|
|
NM_006031.6(PCNT):c.720+11G>A
|
|
|
NM_006031.6(PCNT):c.720+13G>A
|
|
|
NM_006031.6(PCNT):c.720+15C>T
|
|
|
NM_006031.6(PCNT):c.720+17_720+18inv
|
|
|
NM_006031.6(PCNT):c.720+7C>T
|
|
|
NM_006031.6(PCNT):c.720+8G>A
|
|
|
NM_006031.6(PCNT):c.7203C>T (p.Asp2401=)
|
|
|
NM_006031.6(PCNT):c.721-11C>T
|
|
|
NM_006031.6(PCNT):c.721-17C>A
|
|
|
NM_006031.6(PCNT):c.721-17C>T
|
|
|
NM_006031.6(PCNT):c.721-20A>G
|
|
|
NM_006031.6(PCNT):c.721-4G>A
|
|
|
NM_006031.6(PCNT):c.721-7G>C
|
|
|
NM_006031.6(PCNT):c.721-7G>T
|
rs2839217
|
|
NM_006031.6(PCNT):c.721-8C>T
|
|
|
NM_006031.6(PCNT):c.721-9C>T
|
|
|
NM_006031.6(PCNT):c.7221G>A (p.Leu2407=)
|
|
|
NM_006031.6(PCNT):c.723C>T (p.Ala241=)
|
|
|
NM_006031.6(PCNT):c.7251C>T (p.Ser2417=)
|
|
|
NM_006031.6(PCNT):c.7284G>A (p.Glu2428=)
|
|
|
NM_006031.6(PCNT):c.7299G>A (p.Ser2433=)
|
|
|
NM_006031.6(PCNT):c.729T>C (p.His243=)
|
|
|
NM_006031.6(PCNT):c.7317G>A (p.Thr2439=)
|
rs759593322
|
|
NM_006031.6(PCNT):c.7317G>T (p.Thr2439=)
|
|
|
NM_006031.6(PCNT):c.7320+10G>A
|
|
|
NM_006031.6(PCNT):c.7320+12C>T
|
|
|
NM_006031.6(PCNT):c.7320+14T>G
|
|
|
NM_006031.6(PCNT):c.7320+16C>T
|
|
|
NM_006031.6(PCNT):c.7320+17A>G
|
|
|
NM_006031.6(PCNT):c.7320+20C>T
|
|
|
NM_006031.6(PCNT):c.7321-10C>G
|
|
|
NM_006031.6(PCNT):c.7321-11T>C
|
|
|
NM_006031.6(PCNT):c.7321-13C>T
|
|
|
NM_006031.6(PCNT):c.7321-13_7321-10del
|
|
|
NM_006031.6(PCNT):c.7321-14C>G
|
|
|
NM_006031.6(PCNT):c.7321-17C>G
|
|
|
NM_006031.6(PCNT):c.7321-5T>C
|
|
|
NM_006031.6(PCNT):c.7321-7_7321-4del
|
|
|
NM_006031.6(PCNT):c.7335G>T (p.Ala2445=)
|
|
|
NM_006031.6(PCNT):c.7341C>T (p.Pro2447=)
|
|
|
NM_006031.6(PCNT):c.7344T>C (p.Asp2448=)
|
|
|
NM_006031.6(PCNT):c.735T>C (p.Leu245=)
|
|
|
NM_006031.6(PCNT):c.7360C>T (p.Leu2454=)
|
|
|
NM_006031.6(PCNT):c.7362G>A (p.Leu2454=)
|
|
|
NM_006031.6(PCNT):c.7362G>T (p.Leu2454=)
|
|
|
NM_006031.6(PCNT):c.7371G>A (p.Val2457=)
|
|
|
NM_006031.6(PCNT):c.7380C>A (p.Ala2460=)
|
|
|
NM_006031.6(PCNT):c.7380C>T (p.Ala2460=)
|
|
|
NM_006031.6(PCNT):c.7392G>A (p.Glu2464=)
|
|
|
NM_006031.6(PCNT):c.7434C>T (p.Gly2478=)
|
|
|
NM_006031.6(PCNT):c.7446G>A (p.Gly2482=)
|
|
|
NM_006031.6(PCNT):c.7446G>C (p.Gly2482=)
|
rs1313984367
|
|
NM_006031.6(PCNT):c.7461G>T (p.Leu2487=)
|
|
|
NM_006031.6(PCNT):c.7464C>T (p.Leu2488=)
|
|
|
NM_006031.6(PCNT):c.747G>A (p.Ala249=)
|
|
|
NM_006031.6(PCNT):c.747G>T (p.Ala249=)
|
|
|
NM_006031.6(PCNT):c.7482C>A (p.Ile2494=)
|
|
|
NM_006031.6(PCNT):c.7482C>T (p.Ile2494=)
|
|
|
NM_006031.6(PCNT):c.7488T>G (p.Arg2496=)
|
|
|
NM_006031.6(PCNT):c.7494+11G>C
|
|
|
NM_006031.6(PCNT):c.7494+17C>T
|
|
|
NM_006031.6(PCNT):c.7495-14C>T
|
|
|
NM_006031.6(PCNT):c.7495-18G>A
|
|
|
NM_006031.6(PCNT):c.7495-5C>G
|
|
|
NM_006031.6(PCNT):c.7495-7C>T
|
|
|
NM_006031.6(PCNT):c.7495-8G>A
|
|
|
NM_006031.6(PCNT):c.7516C>T (p.Leu2506=)
|
|
|
NM_006031.6(PCNT):c.7530C>G (p.Arg2510=)
|
|
|
NM_006031.6(PCNT):c.7548C>T (p.Ser2516=)
|
|
|
NM_006031.6(PCNT):c.7554G>C (p.Leu2518=)
|
|
|
NM_006031.6(PCNT):c.7569G>A (p.Ala2523=)
|
|
|
NM_006031.6(PCNT):c.7569G>T (p.Ala2523=)
|
|
|
NM_006031.6(PCNT):c.7578C>G (p.Ala2526=)
|
|
|
NM_006031.6(PCNT):c.7581G>A (p.Gln2527=)
|
|
|
NM_006031.6(PCNT):c.7596C>T (p.His2532=)
|
rs2087604880
|
|
NM_006031.6(PCNT):c.7614G>A (p.Lys2538=)
|
|
|
NM_006031.6(PCNT):c.7615C>T (p.Leu2539=)
|
|
|
NM_006031.6(PCNT):c.7617G>A (p.Leu2539=)
|
|
|
NM_006031.6(PCNT):c.7635G>A (p.Ala2545=)
|
|
|
NM_006031.6(PCNT):c.7635G>T (p.Ala2545=)
|
|
|
NM_006031.6(PCNT):c.7653G>T (p.Ala2551=)
|
|
|
NM_006031.6(PCNT):c.765C>T (p.Ser255=)
|
|
|
NM_006031.6(PCNT):c.7668G>A (p.Gln2556=)
|
|
|
NM_006031.6(PCNT):c.7674C>T (p.His2558=)
|
|
|
NM_006031.6(PCNT):c.7683C>T (p.Arg2561=)
|
|
|
NM_006031.6(PCNT):c.7690+16T>C
|
|
|
NM_006031.6(PCNT):c.7690+17A>C
|
|
|
NM_006031.6(PCNT):c.7690+17A>G
|
|
|
NM_006031.6(PCNT):c.7690+19A>G
|
|
|
NM_006031.6(PCNT):c.7690+20C>G
|
|
|
NM_006031.6(PCNT):c.7690+8T>C
|
rs2147942558
|
|
NM_006031.6(PCNT):c.7691-10T>G
|
|
|
NM_006031.6(PCNT):c.7691-16C>A
|
|
|
NM_006031.6(PCNT):c.7691-16C>G
|
|
|
NM_006031.6(PCNT):c.7691-18T>C
|
|
|
NM_006031.6(PCNT):c.7691-19G>A
|
|
|
NM_006031.6(PCNT):c.7691-19G>C
|
|
|
NM_006031.6(PCNT):c.7691-20T>C
|
|
|
NM_006031.6(PCNT):c.7691-5C>T
|
|
|
NM_006031.6(PCNT):c.7696C>T (p.Leu2566=)
|
|
|
NM_006031.6(PCNT):c.7713A>G (p.Val2571=)
|
|
|
NM_006031.6(PCNT):c.7740C>T (p.Asp2580=)
|
|
|
NM_006031.6(PCNT):c.7779C>T (p.Asn2593=)
|
|
|
NM_006031.6(PCNT):c.777G>A (p.Thr259=)
|
|
|
NM_006031.6(PCNT):c.7782C>T (p.Ser2594=)
|
|
|
NM_006031.6(PCNT):c.780G>A (p.Ala260=)
|
|
|
NM_006031.6(PCNT):c.780G>T (p.Ala260=)
|
rs759573809
|
|
NM_006031.6(PCNT):c.7821A>T (p.Arg2607=)
|
|
|
NM_006031.6(PCNT):c.783G>A (p.Gln261=)
|
|
|
NM_006031.6(PCNT):c.7860C>T (p.Ser2620=)
|
|
|
NM_006031.6(PCNT):c.7866G>A (p.Gln2622=)
|
|
|
NM_006031.6(PCNT):c.7875G>A (p.Arg2625=)
|
|
|
NM_006031.6(PCNT):c.7878C>T (p.Ser2626=)
|
|
|
NM_006031.6(PCNT):c.7884C>T (p.Cys2628=)
|
|
|
NM_006031.6(PCNT):c.7887G>A (p.Glu2629=)
|
|
|
NM_006031.6(PCNT):c.7902C>T (p.Val2634=)
|
|
|
NM_006031.6(PCNT):c.790C>T (p.Leu264=)
|
|
|
NM_006031.6(PCNT):c.7913+14C>G
|
|
|
NM_006031.6(PCNT):c.7913+7C>T
|
|
|
NM_006031.6(PCNT):c.7913+9G>T
|
|
|
NM_006031.6(PCNT):c.7914-10C>T
|
|
|
NM_006031.6(PCNT):c.7914-13T>C
|
|
|
NM_006031.6(PCNT):c.7914-15G>A
|
|
|
NM_006031.6(PCNT):c.7914-18T>G
|
|
|
NM_006031.6(PCNT):c.7914-4G>C
|
|
|
NM_006031.6(PCNT):c.7914-8C>T
|
|
|
NM_006031.6(PCNT):c.7917C>T (p.Ser2639=)
|
|
|
NM_006031.6(PCNT):c.7921C>T (p.Leu2641=)
|
|
|
NM_006031.6(PCNT):c.7923G>A (p.Leu2641=)
|
|
|
NM_006031.6(PCNT):c.7938C>T (p.Asn2646=)
|
|
|
NM_006031.6(PCNT):c.7953G>A (p.Ala2651=)
|
|
|
NM_006031.6(PCNT):c.7963C>T (p.Leu2655=)
|
|
|
NM_006031.6(PCNT):c.7965G>A (p.Leu2655=)
|
|
|
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His)
|
rs2070426
|
|
NM_006031.6(PCNT):c.7986G>A (p.Gly2662=)
|
|
|
NM_006031.6(PCNT):c.7992C>G (p.Ala2664=)
|
|
|
NM_006031.6(PCNT):c.8020C>T (p.Leu2674=)
|
|
|
NM_006031.6(PCNT):c.8028C>T (p.His2676=)
|
rs886057191
|
|
NM_006031.6(PCNT):c.8058C>T (p.Ala2686=)
|
|
|
NM_006031.6(PCNT):c.8061G>A (p.Leu2687=)
|
|
|
NM_006031.6(PCNT):c.8064+12T>C
|
|
|
NM_006031.6(PCNT):c.8064+13C>G
|
|
|
NM_006031.6(PCNT):c.8064+14A>G
|
|
|
NM_006031.6(PCNT):c.8064+8G>A
|
|
|
NM_006031.6(PCNT):c.8065-13_8065-12del
|
|
|
NM_006031.6(PCNT):c.8065-15G>T
|
|
|
NM_006031.6(PCNT):c.8065-17A>G
|
|
|
NM_006031.6(PCNT):c.8065-19G>T
|
|
|
NM_006031.6(PCNT):c.8065-9G>C
|
|
|
NM_006031.6(PCNT):c.8076G>A (p.Ala2692=)
|
|
|
NM_006031.6(PCNT):c.8082G>A (p.Leu2694=)
|
|
|
NM_006031.6(PCNT):c.8085G>A (p.Glu2695=)
|
|
|
NM_006031.6(PCNT):c.8121A>G (p.Ala2707=)
|
|
|
NM_006031.6(PCNT):c.8122C>T (p.Leu2708=)
|
|
|
NM_006031.6(PCNT):c.8139G>A (p.Thr2713=)
|
|
|
NM_006031.6(PCNT):c.8160G>A (p.Lys2720=)
|
|
|
NM_006031.6(PCNT):c.8163G>A (p.Glu2721=)
|
|
|
NM_006031.6(PCNT):c.8178C>T (p.His2726=)
|
|
|
NM_006031.6(PCNT):c.8187C>T (p.Cys2729=)
|
|
|
NM_006031.6(PCNT):c.8193C>T (p.Ala2731=)
|
|
|
NM_006031.6(PCNT):c.8196G>A (p.Leu2732=)
|
|
|
NM_006031.6(PCNT):c.8214C>T (p.Ser2738=)
|
rs2147983087
|
|
NM_006031.6(PCNT):c.8226G>A (p.Glu2742=)
|
|
|
NM_006031.6(PCNT):c.8229C>T (p.Leu2743=)
|
|
|
NM_006031.6(PCNT):c.8247T>G (p.Ala2749=)
|
|
|
NM_006031.6(PCNT):c.825G>A (p.Thr275=)
|
|
|
NM_006031.6(PCNT):c.8262C>T (p.Thr2754=)
|
|
|
NM_006031.6(PCNT):c.8263C>T (p.Leu2755=)
|
|
|
NM_006031.6(PCNT):c.8269C>T (p.Leu2757=)
|
|
|
NM_006031.6(PCNT):c.8271G>C (p.Leu2757=)
|
|
|
NM_006031.6(PCNT):c.8277G>A (p.Glu2759=)
|
|
|
NM_006031.6(PCNT):c.828A>T (p.Ala276=)
|
|
|
NM_006031.6(PCNT):c.8292G>A (p.Glu2764=)
|
|
|
NM_006031.6(PCNT):c.8301G>A (p.Leu2767=)
|
|
|
NM_006031.6(PCNT):c.8304C>G (p.Thr2768=)
|
|
|
NM_006031.6(PCNT):c.8304C>T (p.Thr2768=)
|
|
|
NM_006031.6(PCNT):c.8322G>A (p.Arg2774=)
|
|
|
NM_006031.6(PCNT):c.8328G>A (p.Gln2776=)
|
|
|
NM_006031.6(PCNT):c.8337C>T (p.Cys2779=)
|
|
|
NM_006031.6(PCNT):c.8364C>T (p.His2788=)
|
|
|
NM_006031.6(PCNT):c.8368C>T (p.Leu2790=)
|
|
|
NM_006031.6(PCNT):c.8391G>A (p.Glu2797=)
|
|
|
NM_006031.6(PCNT):c.8394G>A (p.Lys2798=)
|
|
|
NM_006031.6(PCNT):c.8403G>A (p.Val2801=)
|
|
|
NM_006031.6(PCNT):c.8415A>G (p.Gln2805=)
|
|
|
NM_006031.6(PCNT):c.8418G>C (p.Ala2806=)
|
|
|
NM_006031.6(PCNT):c.8439G>A (p.Gln2813=)
|
|
|
NM_006031.6(PCNT):c.8445C>G (p.Ala2815=)
|
|
|
NM_006031.6(PCNT):c.8445C>T (p.Ala2815=)
|
|
|
NM_006031.6(PCNT):c.8451T>C (p.His2817=)
|
|
|
NM_006031.6(PCNT):c.8475G>A (p.Glu2825=)
|
|
|
NM_006031.6(PCNT):c.8487C>T (p.His2829=)
|
|
|
NM_006031.6(PCNT):c.8508G>A (p.Glu2836=)
|
|
|
NM_006031.6(PCNT):c.852C>T (p.Leu284=)
|
|
|
NM_006031.6(PCNT):c.8535G>A (p.Ser2845=)
|
|
|
NM_006031.6(PCNT):c.8556C>T (p.Thr2852=)
|
|
|
NM_006031.6(PCNT):c.8577C>T (p.Cys2859=)
|
|
|
NM_006031.6(PCNT):c.8598G>A (p.Glu2866=)
|
|
|
NM_006031.6(PCNT):c.8607G>A (p.Ala2869=)
|
|
|
NM_006031.6(PCNT):c.8616G>A (p.Gln2872=)
|
|
|
NM_006031.6(PCNT):c.861G>T (p.Arg287=)
|
|
|
NM_006031.6(PCNT):c.8622A>G (p.Glu2874=)
|
rs774517427
|
|
NM_006031.6(PCNT):c.8631G>A (p.Gln2877=)
|
|
|
NM_006031.6(PCNT):c.8637C>T (p.His2879=)
|
|
|
NM_006031.6(PCNT):c.8652G>A (p.Glu2884=)
|
|
|
NM_006031.6(PCNT):c.8673G>A (p.Ala2891=)
|
|
|
NM_006031.6(PCNT):c.8676G>A (p.Arg2892=)
|
|
|
NM_006031.6(PCNT):c.8682C>T (p.Ser2894=)
|
|
|
NM_006031.6(PCNT):c.8685G>A (p.Ala2895=)
|
|
|
NM_006031.6(PCNT):c.8700C>T (p.Ser2900=)
|
|
|
NM_006031.6(PCNT):c.8706G>A (p.Ala2902=)
|
|
|
NM_006031.6(PCNT):c.8709T>C (p.Ala2903=)
|
|
|
NM_006031.6(PCNT):c.8739C>T (p.Asp2913=)
|
|
|
NM_006031.6(PCNT):c.873G>A (p.Glu291=)
|
|
|
NM_006031.6(PCNT):c.8751+10G>A
|
|
|
NM_006031.6(PCNT):c.8751+10G>T
|
|
|
NM_006031.6(PCNT):c.8751+13T>C
|
|
|
NM_006031.6(PCNT):c.8751+19C>T
|
|
|
NM_006031.6(PCNT):c.8752-12T>G
|
|
|
NM_006031.6(PCNT):c.8752-13C>A
|
|
|
NM_006031.6(PCNT):c.8752-18T>G
|
|
|
NM_006031.6(PCNT):c.8752-20C>T
|
|
|
NM_006031.6(PCNT):c.8752-4A>T
|
|
|
NM_006031.6(PCNT):c.8752-5A>T
|
|
|
NM_006031.6(PCNT):c.8752-6C>T
|
|
|
NM_006031.6(PCNT):c.8752-8A>C
|
|
|
NM_006031.6(PCNT):c.8752-8A>G
|
rs765074641
|
|
NM_006031.6(PCNT):c.8757A>G (p.Glu2919=)
|
|
|
NM_006031.6(PCNT):c.8758T>C (p.Leu2920=)
|
|
|
NM_006031.6(PCNT):c.879C>T (p.Ala293=)
|
|
|
NM_006031.6(PCNT):c.8856C>T (p.Leu2952=)
|
|
|
NM_006031.6(PCNT):c.8883C>A (p.Ala2961=)
|
|
|
NM_006031.6(PCNT):c.8895G>C (p.Ala2965=)
|
|
|
NM_006031.6(PCNT):c.8905C>A (p.Arg2969=)
|
|
|
NM_006031.6(PCNT):c.8925G>A (p.Leu2975=)
|
rs2148032783
|
|
NM_006031.6(PCNT):c.8931G>A (p.Ala2977=)
|
|
|
NM_006031.6(PCNT):c.8937G>A (p.Arg2979=)
|
|
|
NM_006031.6(PCNT):c.8943G>T (p.Arg2981=)
|
|
|
NM_006031.6(PCNT):c.8944C>T (p.Leu2982=)
|
|
|
NM_006031.6(PCNT):c.8946G>C (p.Leu2982=)
|
|
|
NM_006031.6(PCNT):c.8949C>G (p.Leu2983=)
|
|
|
NM_006031.6(PCNT):c.8949C>T (p.Leu2983=)
|
|
|
NM_006031.6(PCNT):c.8958C>T (p.Ala2986=)
|
|
|
NM_006031.6(PCNT):c.8961G>T (p.Arg2987=)
|
|
|
NM_006031.6(PCNT):c.8967C>T (p.Leu2989=)
|
|
|
NM_006031.6(PCNT):c.8979C>T (p.Thr2993=)
|
|
|
NM_006031.6(PCNT):c.8988C>A (p.Ala2996=)
|
|
|
NM_006031.6(PCNT):c.8996+10C>G
|
rs748036380
|
|
NM_006031.6(PCNT):c.8996+10C>T
|
|
|
NM_006031.6(PCNT):c.8996+15C>T
|
|
|
NM_006031.6(PCNT):c.8996+8C>G
|
|
|
NM_006031.6(PCNT):c.8997-12T>C
|
|
|
NM_006031.6(PCNT):c.8997-17C>G
|
|
|
NM_006031.6(PCNT):c.8997-20G>A
|
|
|
NM_006031.6(PCNT):c.8997-6T>A
|
|
|
NM_006031.6(PCNT):c.9024T>C (p.Asn3008=)
|
|
|
NM_006031.6(PCNT):c.9043T>C (p.Leu3015=)
|
|
|
NM_006031.6(PCNT):c.9046C>T (p.Leu3016=)
|
|
|
NM_006031.6(PCNT):c.9054G>A (p.Thr3018=)
|
|
|
NM_006031.6(PCNT):c.9060G>A (p.Glu3020=)
|
|
|
NM_006031.6(PCNT):c.9064C>T (p.Leu3022=)
|
|
|
NM_006031.6(PCNT):c.9076T>C (p.Leu3026=)
|
|
|
NM_006031.6(PCNT):c.9078G>A (p.Leu3026=)
|
|
|
NM_006031.6(PCNT):c.9084G>A (p.Arg3028=)
|
rs896784926
|
|
NM_006031.6(PCNT):c.9087C>T (p.Pro3029=)
|
|
|
NM_006031.6(PCNT):c.9099+12G>T
|
|
|
NM_006031.6(PCNT):c.9099+15C>T
|
|
|
NM_006031.6(PCNT):c.9099+17C>T
|
|
|
NM_006031.6(PCNT):c.9099+19C>T
|
|
|
NM_006031.6(PCNT):c.9099+7G>A
|
|
|
NM_006031.6(PCNT):c.9100-12C>T
|
|
|
NM_006031.6(PCNT):c.9100-14T>G
|
|
|
NM_006031.6(PCNT):c.9100-17A>C
|
|
|
NM_006031.6(PCNT):c.9100-17_9100-14del
|
|
|
NM_006031.6(PCNT):c.9100-20T>C
|
|
|
NM_006031.6(PCNT):c.9100-9T>G
|
|
|
NM_006031.6(PCNT):c.9111A>G (p.Ala3037=)
|
|
|
NM_006031.6(PCNT):c.9126C>T (p.Phe3042=)
|
|
|
NM_006031.6(PCNT):c.9135G>A (p.Val3045=)
|
|
|
NM_006031.6(PCNT):c.9145C>T (p.Leu3049=)
|
|
|
NM_006031.6(PCNT):c.9165C>T (p.Leu3055=)
|
|
|
NM_006031.6(PCNT):c.9174G>C (p.Ala3058=)
|
|
|
NM_006031.6(PCNT):c.9189C>T (p.Thr3063=)
|
|
|
NM_006031.6(PCNT):c.9198G>A (p.Lys3066=)
|
|
|
NM_006031.6(PCNT):c.9216C>T (p.Ala3072=)
|
|
|
NM_006031.6(PCNT):c.9237G>A (p.Leu3079=)
|
|
|
NM_006031.6(PCNT):c.924G>A (p.Glu308=)
|
rs146178359
|
|
NM_006031.6(PCNT):c.9264C>T (p.Cys3088=)
|
|
|
NM_006031.6(PCNT):c.9267C>T (p.Ser3089=)
|
|
|
NM_006031.6(PCNT):c.9270A>C (p.Pro3090=)
|
|
|
NM_006031.6(PCNT):c.9273+15T>C
|
|
|
NM_006031.6(PCNT):c.9273+15_9273+16dup
|
|
|
NM_006031.6(PCNT):c.9273+19C>A
|
|
|
NM_006031.6(PCNT):c.9273+19C>T
|
|
|
NM_006031.6(PCNT):c.9274-20C>T
|
|
|
NM_006031.6(PCNT):c.9274-4A>G
|
|
|
NM_006031.6(PCNT):c.9274-7C>G
|
|
|
NM_006031.6(PCNT):c.9285G>A (p.Arg3095=)
|
|
|
NM_006031.6(PCNT):c.9303C>T (p.Asp3101=)
|
|
|
NM_006031.6(PCNT):c.9306A>G (p.Glu3102=)
|
|
|
NM_006031.6(PCNT):c.9309G>A (p.Thr3103=)
|
|
|
NM_006031.6(PCNT):c.9336A>G (p.Pro3112=)
|
|
|
NM_006031.6(PCNT):c.9339C>T (p.Asp3113=)
|
|
|
NM_006031.6(PCNT):c.933A>C (p.Ala311=)
|
|
|
NM_006031.6(PCNT):c.9342C>G (p.Pro3114=)
|
|
|
NM_006031.6(PCNT):c.9342C>T (p.Pro3114=)
|
|
|
NM_006031.6(PCNT):c.9363C>T (p.Ala3121=)
|
|
|
NM_006031.6(PCNT):c.9366C>T (p.Ser3122=)
|
|
|
NM_006031.6(PCNT):c.9375A>G (p.Ala3125=)
|
|
|
NM_006031.6(PCNT):c.9390C>T (p.Val3130=)
|
|
|
NM_006031.6(PCNT):c.9393+16C>G
|
|
|
NM_006031.6(PCNT):c.9393+16C>T
|
|
|
NM_006031.6(PCNT):c.9393+8C>G
|
|
|
NM_006031.6(PCNT):c.9393+8C>T
|
rs750108017
|
|
NM_006031.6(PCNT):c.9393+9G>T
|
|
|
NM_006031.6(PCNT):c.9394-10T>C
|
|
|
NM_006031.6(PCNT):c.9394-17T>C
|
|
|
NM_006031.6(PCNT):c.9394-8T>C
|
|
|
NM_006031.6(PCNT):c.9399A>G (p.Glu3133=)
|
|
|
NM_006031.6(PCNT):c.9405G>A (p.Leu3135=)
|
|
|
NM_006031.6(PCNT):c.9408C>T (p.Tyr3136=)
|
|
|
NM_006031.6(PCNT):c.9411G>A (p.Leu3137=)
|
|
|
NM_006031.6(PCNT):c.942G>A (p.Lys314=)
|
|
|
NM_006031.6(PCNT):c.9450T>A (p.Ile3150=)
|
|
|
NM_006031.6(PCNT):c.9469T>C (p.Leu3157=)
|
|
|
NM_006031.6(PCNT):c.9475T>C (p.Leu3159=)
|
|
|
NM_006031.6(PCNT):c.9477G>A (p.Leu3159=)
|
|
|
NM_006031.6(PCNT):c.9489C>T (p.Phe3163=)
|
|
|
NM_006031.6(PCNT):c.948G>A (p.Glu316=)
|
|
|
NM_006031.6(PCNT):c.9510A>G (p.Thr3170=)
|
|
|
NM_006031.6(PCNT):c.954G>T (p.Val318=)
|
|
|
NM_006031.6(PCNT):c.9564C>A (p.Ile3188=)
|
|
|
NM_006031.6(PCNT):c.9609C>T (p.Val3203=)
|
|
|
NM_006031.6(PCNT):c.9612T>C (p.Ile3204=)
|
|
|
NM_006031.6(PCNT):c.9623+10A>G
|
|
|
NM_006031.6(PCNT):c.9623+14C>T
|
|
|
NM_006031.6(PCNT):c.9623+15G>A
|
|
|
NM_006031.6(PCNT):c.9623+9C>G
|
|
|
NM_006031.6(PCNT):c.9623+9C>T
|
|
|
NM_006031.6(PCNT):c.9624-10T>C
|
|
|
NM_006031.6(PCNT):c.9624-17_9624-13del
|
|
|
NM_006031.6(PCNT):c.9624-4G>C
|
|
|
NM_006031.6(PCNT):c.9627A>G (p.Leu3209=)
|
|
|
NM_006031.6(PCNT):c.9654A>G (p.Glu3218=)
|
|
|
NM_006031.6(PCNT):c.969G>A (p.Gln323=)
|
|
|
NM_006031.6(PCNT):c.9700+11A>T
|
|
|
NM_006031.6(PCNT):c.9700+12G>A
|
|
|
NM_006031.6(PCNT):c.9700+13C>T
|
|
|
NM_006031.6(PCNT):c.9700+14T>A
|
|
|
NM_006031.6(PCNT):c.9700+15G>A
|
|
|
NM_006031.6(PCNT):c.9700+18G>C
|
|
|
NM_006031.6(PCNT):c.9700+8T>A
|
|
|
NM_006031.6(PCNT):c.9701-10T>C
|
|
|
NM_006031.6(PCNT):c.9701-10T>G
|
|
|
NM_006031.6(PCNT):c.9701-19T>G
|
|
|
NM_006031.6(PCNT):c.9701-9C>T
|
|
|
NM_006031.6(PCNT):c.9714A>G (p.Arg3238=)
|
|
|
NM_006031.6(PCNT):c.9720G>T (p.Pro3240=)
|
|
|
NM_006031.6(PCNT):c.9726T>C (p.Ser3242=)
|
|
|
NM_006031.6(PCNT):c.972A>G (p.Glu324=)
|
|
|
NM_006031.6(PCNT):c.9738C>G (p.Thr3246=)
|
|
|
NM_006031.6(PCNT):c.9747C>T (p.Ser3249=)
|
|
|
NM_006031.6(PCNT):c.9750C>A (p.Pro3250=)
|
|
|
NM_006031.6(PCNT):c.9753A>G (p.Pro3251=)
|
|
|
NM_006031.6(PCNT):c.9756C>G (p.Thr3252=)
|
|
|
NM_006031.6(PCNT):c.9757C>A (p.Arg3253=)
|
|
|
NM_006031.6(PCNT):c.9758G>A (p.Arg3253Gln)
|
|
|
NM_006031.6(PCNT):c.9759G>T (p.Arg3253=)
|
|
|
NM_006031.6(PCNT):c.976+12C>T
|
|
|
NM_006031.6(PCNT):c.976+17C>T
|
|
|
NM_006031.6(PCNT):c.976+18G>A
|
|
|
NM_006031.6(PCNT):c.976+19G>A
|
|
|
NM_006031.6(PCNT):c.9768C>T (p.Pro3256=)
|
|
|
NM_006031.6(PCNT):c.977-4G>C
|
|
|
NM_006031.6(PCNT):c.977-4G>T
|
rs2146561875
|
|
NM_006031.6(PCNT):c.977-6T>C
|
|
|
NM_006031.6(PCNT):c.9774C>T (p.Gly3258=)
|
|
|
NM_006031.6(PCNT):c.9777C>T (p.His3259=)
|
|
|
NM_006031.6(PCNT):c.9786C>T (p.Asp3262=)
|
|
|
NM_006031.6(PCNT):c.9789T>G (p.Pro3263=)
|
|
|
NM_006031.6(PCNT):c.9801C>T (p.Arg3267=)
|
|
|
NM_006031.6(PCNT):c.9839+14C>T
|
|
|
NM_006031.6(PCNT):c.9839+15T>C
|
|
|
NM_006031.6(PCNT):c.9839+17C>T
|
|
|
NM_006031.6(PCNT):c.9839+18A>G
|
|
|
NM_006031.6(PCNT):c.9839+6dup
|
|
|
NM_006031.6(PCNT):c.9839+7G>T
|
|
|
NM_006031.6(PCNT):c.9839+8T>C
|
|
|
NM_006031.6(PCNT):c.9840-14_9840-13del
|
|
|
NM_006031.6(PCNT):c.9840-15G>C
|
rs564095021
|
|
NM_006031.6(PCNT):c.9840-18G>A
|
|
|
NM_006031.6(PCNT):c.9840-8G>T
|
|
|
NM_006031.6(PCNT):c.9840-9T>G
|
|
|
NM_006031.6(PCNT):c.9849A>G (p.Pro3283=)
|
|
|
NM_006031.6(PCNT):c.984G>A (p.Leu328=)
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NM_006031.6(PCNT):c.9864A>G (p.Arg3288=)
|
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NM_006031.6(PCNT):c.9865T>C (p.Leu3289=)
|
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NM_006031.6(PCNT):c.9888T>C (p.Ser3296=)
|
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NM_006031.6(PCNT):c.9912A>G (p.Thr3304=)
|
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|
NM_006031.6(PCNT):c.993G>A (p.Lys331=)
|
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NM_006031.6(PCNT):c.9942G>A (p.Gln3314=)
|
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NM_006031.6(PCNT):c.994T>C (p.Leu332=)
|
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NM_006031.6(PCNT):c.9954A>G (p.Gly3318=)
|
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NM_006031.6(PCNT):c.9957G>C (p.Gly3319=)
|
|
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NM_006031.6(PCNT):c.9961C>T (p.Leu3321=)
|
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NM_006031.6(PCNT):c.9963A>G (p.Leu3321=)
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|
NM_006031.6(PCNT):c.9967+13C>G
|
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NM_006031.6(PCNT):c.9967+15C>T
|
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NM_006031.6(PCNT):c.9967+16G>A
|
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NM_006031.6(PCNT):c.9967+18C>A
|
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NM_006031.6(PCNT):c.9967+19G>A
|
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NM_006031.6(PCNT):c.9968-18A>C
|
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|
NM_006031.6(PCNT):c.9968-21_9968-19del
|
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NM_006031.6(PCNT):c.9968-5T>C
|
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NM_006031.6(PCNT):c.9968-6A>G
|
|
|
NM_006031.6(PCNT):c.9972T>C (p.Ser3324=)
|
|
|
NM_006031.6(PCNT):c.9978A>G (p.Ser3326=)
|
|
|
NM_006031.6(PCNT):c.9978A>T (p.Ser3326=)
|
rs749839605
|
|
NM_006031.6(PCNT):c.9987C>T (p.Ser3329=)
|
|
|
NM_006031.6(PCNT):c.9993C>T (p.His3331=)
|
|
|
NM_006031.6(PCNT):c.9996G>A (p.Pro3332=)
|
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