NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met)
|
rs368161263
|
0.00004
|
NM_001009944.3(PKD1):c.7065+9C>T
|
rs765688834
|
0.00004
|
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter)
|
rs764447736
|
0.00003
|
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)
|
rs1567200098
|
0.00003
|
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter)
|
rs774453006
|
0.00001
|
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter)
|
rs1183899324
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
|
|
|
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
|
|
|
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
|
|
|
NC_000016.10:g.2092048_2092049dup
|
rs1596482597
|
|
NM_001009944.2(PKD1):c.8017_8024delGGGCCCAG
|
|
|
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
|
|
|
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs)
|
rs2092667308
|
|
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter)
|
rs2151729320
|
|
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs)
|
rs1567165997
|
|
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
|
|
|
NM_001009944.3(PKD1):c.10163del (p.Ala3388fs)
|
rs1596503384
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter)
|
rs2151728536
|
|
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
|
|
|
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs)
|
rs2151728391
|
|
NM_001009944.3(PKD1):c.10220+2_10220+3del
|
rs1114167366
|
|
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter)
|
rs2151727019
|
|
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs)
|
rs2151726918
|
|
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs)
|
rs2091891993
|
|
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)
|
|
|
NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs)
|
|
|
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter)
|
rs780009030
|
|
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs)
|
rs2151726623
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs)
|
rs2151725680
|
|
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
|
rs1385274120
|
|
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs)
|
rs2091883381
|
|
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs)
|
rs1555448106
|
|
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)
|
rs2151710519
|
|
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)
|
rs1378307448
|
|
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs)
|
rs2151710347
|
|
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs)
|
rs2151710316
|
|
NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs)
|
rs1555447196
|
|
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)
|
rs1057516041
|
|
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs)
|
rs1555447057
|
|
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter)
|
rs1361283193
|
|
NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs)
|
rs2151708812
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs)
|
rs2151708652
|
|
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs)
|
rs1555459001
|
|
NM_001009944.3(PKD1):c.10822-1G>C
|
rs2091715597
|
|
NM_001009944.3(PKD1):c.10822-30_10852del
|
|
|
NM_001009944.3(PKD1):c.108del (p.Cys37fs)
|
rs2092941062
|
|
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)
|
rs2091705970
|
|
NM_001009944.3(PKD1):c.11033del (p.Met3678fs)
|
rs1555446637
|
|
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs)
|
rs2091670117
|
|
NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs)
|
rs2151704327
|
|
NM_001009944.3(PKD1):c.11119C>T (p.Gln3707Ter)
|
rs2091668243
|
|
NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs)
|
rs1555446582
|
|
NM_001009944.3(PKD1):c.11156+1G>C
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156+1G>T
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)
|
rs1555446576
|
|
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs)
|
rs1567155179
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)
|
rs1567154953
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter)
|
rs369825780
|
|
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs)
|
rs2091620763
|
|
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs)
|
rs1555446033
|
|
NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs)
|
|
|
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)
|
rs1555445999
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs)
|
|
|
NM_001009944.3(PKD1):c.1136dup (p.Asn379fs)
|
rs2092665918
|
|
NM_001009944.3(PKD1):c.11377_11395dup (p.Ala3799fs)
|
rs2091614437
|
|
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)
|
rs1567153758
|
|
NM_001009944.3(PKD1):c.11411+1G>C
|
rs2091612821
|
|
NM_001009944.3(PKD1):c.11412-2A>C
|
rs1555445771
|
|
NM_001009944.3(PKD1):c.11412-7_11468del
|
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11423G>A (p.Trp3808Ter)
|
|
|
NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs)
|
rs2091601824
|
|
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs)
|
rs2091600536
|
|
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)
|
rs199476098
|
|
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter)
|
rs199476098
|
|
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)
|
rs1325300747
|
|
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs)
|
|
|
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter)
|
rs1286585831
|
|
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)
|
rs199476096
|
|
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)
|
rs1057518959
|
|
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)
|
rs1596481464
|
|
NM_001009944.3(PKD1):c.11538-2A>C
|
|
|
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs)
|
rs724159823
|
|
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter)
|
rs2091580237
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs)
|
rs2151695526
|
|
NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs)
|
rs2091576236
|
|
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs)
|
|
|
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs)
|
rs1596480112
|
|
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs)
|
rs2151695024
|
|
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter)
|
rs2091572700
|
|
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs)
|
rs2092665584
|
|
NM_001009944.3(PKD1):c.11722dup (p.Leu3908fs)
|
|
|
NM_001009944.3(PKD1):c.11723T>C (p.Leu3908Pro)
|
rs2151688569
|
|
NM_001009944.3(PKD1):c.11725_11740del (p.Leu3909fs)
|
rs2091500917
|
|
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter)
|
rs1555445229
|
|
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter)
|
rs2091498706
|
|
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs)
|
|
|
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)
|
rs2091493090
|
|
NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs)
|
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs)
|
rs886040959
|
|
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
|
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs)
|
rs2091483332
|
|
NM_001009944.3(PKD1):c.1199del (p.Arg400fs)
|
rs2092665134
|
|
NM_001009944.3(PKD1):c.12004-2A>G
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12004-7_12012dup
|
rs1596475487
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
|
|
|
NM_001009944.3(PKD1):c.1202-1G>A
|
rs2151822688
|
|
NM_001009944.3(PKD1):c.1202-2A>G
|
rs2092662592
|
|
NM_001009944.3(PKD1):c.1202-2A>T
|
rs2092662592
|
|
NM_001009944.3(PKD1):c.1202-9G>A
|
rs1596588606
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)
|
rs1218054241
|
|
NM_001009944.3(PKD1):c.12039_12040insAC (p.Val4014fs)
|
rs2091472604
|
|
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
|
|
|
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12138+1G>C
|
rs2151684070
|
|
NM_001009944.3(PKD1):c.12139-2A>C
|
rs2091453268
|
|
NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs)
|
|
|
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter)
|
rs2151682538
|
|
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter)
|
rs2091450305
|
|
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs)
|
rs1567146946
|
|
NM_001009944.3(PKD1):c.12232del (p.Glu4078fs)
|
rs2091446343
|
|
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter)
|
rs199476097
|
|
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)
|
rs1060499718
|
|
NM_001009944.3(PKD1):c.12334_12335insGG (p.Ala4112fs)
|
|
|
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs)
|
rs2091440383
|
|
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs)
|
rs1596473420
|
|
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)
|
rs2091437893
|
|
NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter)
|
|
|
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter)
|
rs756212622
|
|
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs)
|
rs2151680679
|
|
NM_001009944.3(PKD1):c.123_129del (p.Gly44fs)
|
|
|
NM_001009944.3(PKD1):c.12420G>A (p.Trp4140Ter)
|
rs199476102
|
|
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
|
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
|
rs2091413514
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001009944.3(PKD1):c.12490del (p.Arg4164fs)
|
rs1596472276
|
|
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs)
|
rs1555444249
|
|
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
|
|
|
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs)
|
rs2091400717
|
|
NM_001009944.3(PKD1):c.12605del (p.Gly4202fs)
|
|
|
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
|
|
|
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs)
|
rs2151676915
|
|
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter)
|
rs2091395464
|
|
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)
|
rs199476095
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)
|
rs2091391674
|
|
NM_001009944.3(PKD1):c.1303C>T (p.Gln435Ter)
|
rs2092660457
|
|
NM_001009944.3(PKD1):c.1309C>T (p.Gln437Ter)
|
rs2151822408
|
|
NM_001009944.3(PKD1):c.1326del (p.Ala443fs)
|
rs2151822381
|
|
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs)
|
rs1567216323
|
|
NM_001009944.3(PKD1):c.1385+1G>T
|
|
|
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
|
|
|
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs)
|
rs2151820943
|
|
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter)
|
|
|
NM_001009944.3(PKD1):c.1491del (p.Glu499fs)
|
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter)
|
rs2151820663
|
|
NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter)
|
rs1401015526
|
|
NM_001009944.3(PKD1):c.1606+1G>A
|
rs2151820539
|
|
NM_001009944.3(PKD1):c.1606+5G>A
|
rs2092646077
|
|
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs)
|
rs3072277
|
|
NM_001009944.3(PKD1):c.1654del (p.Asp552fs)
|
rs2151819777
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
|
|
|
NM_001009944.3(PKD1):c.1669dup (p.Leu557fs)
|
rs2092640687
|
|
NM_001009944.3(PKD1):c.1700C>G (p.Ser567Ter)
|
rs765817015
|
|
NM_001009944.3(PKD1):c.1723-1G>A
|
rs1596582948
|
|
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter)
|
rs2092629130
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.1849+1G>T
|
rs2092628618
|
|
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter)
|
rs1348307652
|
|
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
|
|
|
NM_001009944.3(PKD1):c.1931del (p.Gly644fs)
|
rs1596580483
|
|
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
|
|
|
NM_001009944.3(PKD1):c.2032del (p.Ala678fs)
|
rs2092615974
|
|
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter)
|
rs1174034883
|
|
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs)
|
rs2151816205
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2085del (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2089C>T (p.Gln697Ter)
|
rs2151816083
|
|
NM_001009944.3(PKD1):c.2097+2T>C
|
rs2092614697
|
|
NM_001009944.3(PKD1):c.2101_2102dup (p.Leu702fs)
|
rs2092604612
|
|
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)
|
rs2092604224
|
|
NM_001009944.3(PKD1):c.215+2_215+3del
|
rs2092939625
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs)
|
rs2092600549
|
|
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs)
|
rs2092598385
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2542C>T (p.Gln848Ter)
|
rs2092595963
|
|
NM_001009944.3(PKD1):c.2545G>A (p.Val849Met)
|
|
|
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs)
|
rs1555457807
|
|
NM_001009944.3(PKD1):c.2659del (p.Trp887fs)
|
rs2092593850
|
|
NM_001009944.3(PKD1):c.2674del (p.Thr892fs)
|
|
|
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)
|
rs1567210080
|
|
NM_001009944.3(PKD1):c.2688_2698del (p.Leu899fs)
|
|
|
NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter)
|
rs2092592999
|
|
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter)
|
rs1339097856
|
|
NM_001009944.3(PKD1):c.2784_2796del (p.Glu929fs)
|
|
|
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs)
|
rs1596574774
|
|
NM_001009944.3(PKD1):c.2853+1G>A
|
rs2151812559
|
|
NM_001009944.3(PKD1):c.288-2A>G
|
rs2092684358
|
|
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter)
|
rs1555457446
|
|
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs)
|
|
|
NM_001009944.3(PKD1):c.2962_2985+1del
|
|
|
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
|
|
|
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter)
|
rs753261451
|
|
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter)
|
rs2092555939
|
|
NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs)
|
rs1567206904
|
|
NM_001009944.3(PKD1):c.3161+1G>C
|
|
|
NM_001009944.3(PKD1):c.3162-1G>A
|
|
|
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter)
|
rs1231492796
|
|
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
|
rs2092538738
|
|
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs)
|
rs2092538008
|
|
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter)
|
rs1416011785
|
|
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter)
|
rs1373028227
|
|
NM_001009944.3(PKD1):c.3295+1G>T
|
rs2092536130
|
|
NM_001009944.3(PKD1):c.3296-1G>A
|
rs1567204631
|
|
NM_001009944.3(PKD1):c.330del (p.Phe111fs)
|
rs2151826084
|
|
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter)
|
rs1596563657
|
|
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
|
rs755084885
|
|
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
|
|
|
NM_001009944.3(PKD1):c.3441C>A (p.Tyr1147Ter)
|
|
|
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter)
|
rs1205064584
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs)
|
rs1555456661
|
|
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter)
|
rs1057516206
|
|
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs)
|
rs2151800732
|
|
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter)
|
rs2092506242
|
|
NM_001009944.3(PKD1):c.3684del (p.Val1229fs)
|
rs2092503653
|
|
NM_001009944.3(PKD1):c.3729G>A (p.Trp1243Ter)
|
rs2092501936
|
|
NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter)
|
rs145263744
|
|
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
|
|
|
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs)
|
rs1567202350
|
|
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)
|
rs780119305
|
|
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs)
|
rs2151799399
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs)
|
rs2092491511
|
|
NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter)
|
rs1567219111
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
|
|
|
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
|
rs1596591955
|
|
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)
|
rs1567201083
|
|
NM_001009944.3(PKD1):c.4214G>A (p.Trp1405Ter)
|
rs2151798372
|
|
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs)
|
rs754820795
|
|
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs)
|
rs2092485909
|
|
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs)
|
rs34495017
|
|
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu)
|
|
|
NM_001009944.3(PKD1):c.439dup (p.Val147fs)
|
rs2092679105
|
|
NM_001009944.3(PKD1):c.4419del (p.Asn1474fs)
|
rs2151797547
|
|
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)
|
rs1567200117
|
|
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs)
|
rs2092479999
|
|
NM_001009944.3(PKD1):c.445del (p.Gln149fs)
|
rs796052133
|
|
NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs)
|
rs2092478837
|
|
NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter)
|
rs2092477162
|
|
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter)
|
rs2151796950
|
|
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
|
|
|
NM_001009944.3(PKD1):c.4654del (p.Val1552fs)
|
rs2047525622
|
|
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs)
|
rs1555455797
|
|
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs)
|
rs2151796475
|
|
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs)
|
rs2092471431
|
|
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
|
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs)
|
rs1596557533
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
|
|
|
NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs)
|
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
|
|
|
NM_001009944.3(PKD1):c.491del (p.Gln164fs)
|
rs2151825169
|
|
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter)
|
rs752948922
|
|
NM_001009944.3(PKD1):c.4995del (p.Trp1666fs)
|
rs2151795458
|
|
NM_001009944.3(PKD1):c.499del (p.Gly168fs)
|
rs2151825150
|
|
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs)
|
rs1555455453
|
|
NM_001009944.3(PKD1):c.5080del (p.His1694fs)
|
rs2092460002
|
|
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)
|
rs1057518783
|
|
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs)
|
rs1596556375
|
|
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs)
|
rs2092458566
|
|
NM_001009944.3(PKD1):c.5155G>C (p.Gly1719Arg)
|
|
|
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter)
|
rs753749502
|
|
NM_001009944.3(PKD1):c.5364del (p.Ser1789fs)
|
|
|
NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter)
|
rs1377414968
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
|
|
|
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs)
|
rs1567196314
|
|
NM_001009944.3(PKD1):c.5637C>A (p.Tyr1879Ter)
|
rs2092447380
|
|
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter)
|
rs1304952446
|
|
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)
|
rs2151792059
|
|
NM_001009944.3(PKD1):c.5722C>T (p.Gln1908Ter)
|
rs2151791889
|
|
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)
|
rs199476101
|
|
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs)
|
rs2092444151
|
|
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs)
|
rs1555454915
|
|
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter)
|
rs200001471
|
|
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs)
|
rs2151791178
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.5890del (p.Arg1964fs)
|
rs2092440406
|
|
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs)
|
rs1596553527
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs)
|
rs2151790499
|
|
NM_001009944.3(PKD1):c.601dup (p.His201fs)
|
rs2151824362
|
|
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)
|
rs1555454739
|
|
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter)
|
rs2151790199
|
|
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)
|
rs755747732
|
|
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
|
|
|
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs)
|
rs2092433875
|
|
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs)
|
rs2151789587
|
|
NM_001009944.3(PKD1):c.616C>T (p.Gln206Ter)
|
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter)
|
rs2151788870
|
|
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
|
|
|
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs)
|
rs2151824295
|
|
NM_001009944.3(PKD1):c.6299C>A (p.Ser2100Ter)
|
rs539793378
|
|
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)
|
rs762911981
|
|
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)
|
rs1555454460
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter)
|
rs2151788037
|
|
NM_001009944.3(PKD1):c.6424del (p.Gln2142fs)
|
rs1060499702
|
|
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs)
|
rs1567192790
|
|
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs)
|
rs1334651902
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)
|
rs1485307916
|
|
NM_001009944.3(PKD1):c.6549del (p.Glu2184fs)
|
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs)
|
rs1596551138
|
|
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)
|
rs1555454353
|
|
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter)
|
rs1567192286
|
|
NM_001009944.3(PKD1):c.659del (p.Gly220fs)
|
rs2151824233
|
|
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
|
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs)
|
rs2151786400
|
|
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.6747_6750delinsCA (p.Thr2250fs)
|
|
|
NM_001009944.3(PKD1):c.6749_6750del (p.Thr2250fs)
|
|
|
NM_001009944.3(PKD1):c.678G>A (p.Glu226=)
|
rs2092673013
|
|
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter)
|
rs1312494071
|
|
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter)
|
rs1312494071
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
|
|
|
NM_001009944.3(PKD1):c.6813dup (p.Arg2272fs)
|
rs2151785975
|
|
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter)
|
rs546354639
|
|
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter)
|
rs755591790
|
|
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs)
|
rs2151785622
|
|
NM_001009944.3(PKD1):c.6913_6914del (p.Gln2305fs)
|
rs1555454075
|
|
NM_001009944.3(PKD1):c.695G>C (p.Cys232Ser)
|
|
|
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter)
|
rs2151783909
|
|
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter)
|
rs2092401442
|
|
NM_001009944.3(PKD1):c.7045G>T (p.Glu2349Ter)
|
|
|
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)
|
rs1596548114
|
|
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter)
|
rs2092400157
|
|
NM_001009944.3(PKD1):c.7065+1G>A
|
rs2151783532
|
|
NM_001009944.3(PKD1):c.7066-1G>C
|
|
|
NM_001009944.3(PKD1):c.707del (p.Gln236fs)
|
rs2092672656
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
|
|
|
NM_001009944.3(PKD1):c.711del (p.Ser238fs)
|
rs2092672595
|
|
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)
|
rs752114168
|
|
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs)
|
rs2092356759
|
|
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)
|
rs1555453360
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs)
|
rs2092345946
|
|
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
|
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.7369G>T (p.Glu2457Ter)
|
rs2092341848
|
|
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter)
|
rs1453883641
|
|
NM_001009944.3(PKD1):c.7495del (p.His2499fs)
|
rs2092333316
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)
|
rs28369051
|
|
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)
|
rs1567184366
|
|
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)
|
rs2092321142
|
|
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter)
|
rs138871063
|
|
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
|
|
|
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)
|
rs762003393
|
|
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)
|
rs778979740
|
|
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)
|
rs764840802
|
|
NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs)
|
rs1555452400
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.7951del (p.Val2651fs)
|
rs2151766847
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)
|
rs1567182193
|
|
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs)
|
rs2151766664
|
|
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)
|
rs2092301272
|
|
NM_001009944.3(PKD1):c.8017-1G>C
|
rs2092263886
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs)
|
rs2092262890
|
|
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter)
|
rs151308544
|
|
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter)
|
rs377029031
|
|
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter)
|
rs779516086
|
|
NM_001009944.3(PKD1):c.8098G>A (p.Ala2700Thr)
|
|
|
NM_001009944.3(PKD1):c.8161+1G>T
|
|
|
NM_001009944.3(PKD1):c.8162-1G>A
|
rs1555451430
|
|
NM_001009944.3(PKD1):c.8162-2A>G
|
rs2092209753
|
|
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
|
|
|
NM_001009944.3(PKD1):c.8234_8235insCGTCACCATC (p.Arg2746fs)
|
rs2092206577
|
|
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs)
|
rs1596527579
|
|
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)
|
rs2092205600
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)
|
rs2092202856
|
|
NM_001009944.3(PKD1):c.8320del (p.Pro2773_Leu2774insTer)
|
rs2092202749
|
|
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
|
|
|
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs)
|
rs1567178000
|
|
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs)
|
|
|
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter)
|
rs2092196354
|
|
NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs)
|
|
|
NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs)
|
|
|
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)
|
rs1364976535
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
|
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)
|
rs1555450968
|
|
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)
|
rs2151754069
|
|
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)
|
rs1596525695
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001009944.3(PKD1):c.8791+1G>A
|
rs2092177236
|
|
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
|
|
|
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)
|
rs750780241
|
|
NM_001009944.3(PKD1):c.8897_8898del (p.Glu2966fs)
|
rs2092154654
|
|
NM_001009944.3(PKD1):c.8900C>G (p.Ser2967Ter)
|
|
|
NM_001009944.3(PKD1):c.8945del (p.Pro2982fs)
|
rs2092151870
|
|
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)
|
rs1555459084
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
|
rs1596522636
|
|
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs)
|
rs1555450475
|
|
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
|
|
|
NM_001009944.3(PKD1):c.9201+1G>A
|
rs2151749304
|
|
NM_001009944.3(PKD1):c.9217dup (p.Val3073fs)
|
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)
|
rs1596520985
|
|
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
|
|
|
NM_001009944.3(PKD1):c.9386del (p.Gly3129fs)
|
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs)
|
rs2092049440
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.9568+1G>C
|
rs2092046394
|
|
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)
|
|
|
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter)
|
rs1596514027
|
|
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
|
rs1474701377
|
|
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs)
|
rs2092035920
|
|
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)
|
rs2151740671
|
|
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter)
|
rs2151740638
|
|
NM_001009944.3(PKD1):c.9726_9727insA (p.Leu3243fs)
|
rs2151739862
|
|
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs)
|
rs2092026801
|
|
NM_001009944.3(PKD1):c.9841del (p.Ala3281fs)
|
rs2092021706
|
|
NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter)
|
rs1420757773
|
|
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
|
|
|
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)
|
rs1567169638
|
|
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter)
|
rs2092941253
|
|
NM_001009944.3(PKD1):c.[7735_7737del;7972_7979del]
|
|
|
NM_001009944.3:c.(287+1_288-1)_(12003+1_12004-1)del
|
|
|