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.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs)
|
rs2091883381
|
|
NM_001009944.3(PKD1):c.10524dup (p.Glu3509fs)
|
rs2151710478
|
|
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)
|
rs1378307448
|
|
NM_001009944.3(PKD1):c.10588C>T (p.Gln3530Ter)
|
rs1596490025
|
|
NM_001009944.3(PKD1):c.10658G>A (p.Trp3553Ter)
|
rs1321748065
|
|
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)
|
rs1177764199
|
|
NM_001009944.3(PKD1):c.10842C>G (p.Tyr3614Ter)
|
|
|
NM_001009944.3(PKD1):c.10964del (p.Phe3655fs)
|
|
|
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)
|
rs1567153758
|
|
NM_001009944.3(PKD1):c.11384G>A (p.Trp3795Ter)
|
rs2151699315
|
|
NM_001009944.3(PKD1):c.11385G>A (p.Trp3795Ter)
|
|
|
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)
|
rs199476096
|
|
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)
|
rs1596481464
|
|
NM_001009944.3(PKD1):c.11621del (p.Pro3874fs)
|
rs2151695543
|
|
NM_001009944.3(PKD1):c.11783G>A (p.Trp3928Ter)
|
rs764746483
|
|
NM_001009944.3(PKD1):c.11816G>A (p.Trp3939Ter)
|
|
|
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)
|
rs2091493090
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
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.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
NM_001009944.3(PKD1):c.12100del (p.Val4034fs)
|
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs)
|
rs1555444648
|
|
NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)
|
rs1555444602
|
|
NM_001009944.3(PKD1):c.12323G>A (p.Trp4108Ter)
|
|
|
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
|
|
|
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)
|
rs199476095
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.1297C>T (p.Gln433Ter)
|
|
|
NM_001009944.3(PKD1):c.1386-2A>G
|
|
|
NM_001009944.3(PKD1):c.1426del (p.Val476fs)
|
|
|
NM_001009944.3(PKD1):c.155C>A (p.Ser52Ter)
|
|
|
NM_001009944.3(PKD1):c.1687C>T (p.Gln563Ter)
|
rs1064794207
|
|
NM_001009944.3(PKD1):c.1722+2T>C
|
rs886041836
|
|
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
|
|
|
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)
|
rs1448641464
|
|
NM_001009944.3(PKD1):c.2050A>T (p.Arg684Ter)
|
|
|
NM_001009944.3(PKD1):c.2079del (p.Ala696fs)
|
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)
|
rs2092604224
|
|
NM_001009944.3(PKD1):c.215+1G>C
|
rs1555462433
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2439C>A (p.Cys813Ter)
|
rs746720158
|
|
NM_001009944.3(PKD1):c.2494del (p.Arg832fs)
|
|
|
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2622C>A (p.Cys874Ter)
|
|
|
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)
|
rs1567210080
|
|
NM_001009944.3(PKD1):c.2684C>A (p.Ser895Ter)
|
|
|
NM_001009944.3(PKD1):c.2781_2782insAG (p.Ala928fs)
|
rs1596574987
|
|
NM_001009944.3(PKD1):c.3171_3172del (p.Phe1057fs)
|
rs2151804597
|
|
NM_001009944.3(PKD1):c.3295+1G>C
|
|
|
NM_001009944.3(PKD1):c.3425_3428dup (p.Val1144fs)
|
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)
|
rs1057518899
|
|
NM_001009944.3(PKD1):c.4109_4120delinsG (p.Tyr1370fs)
|
|
|
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
|
rs1596591955
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.445C>T (p.Gln149Ter)
|
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.5006G>A (p.Trp1669Ter)
|
|
|
NM_001009944.3(PKD1):c.5159G>A (p.Trp1720Ter)
|
rs2151794620
|
|
NM_001009944.3(PKD1):c.5637C>G (p.Tyr1879Ter)
|
|
|
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)
|
rs942694907
|
|
NM_001009944.3(PKD1):c.5756del (p.Phe1919fs)
|
|
|
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs)
|
rs2092443264
|
|
NM_001009944.3(PKD1):c.5824dup (p.Arg1942fs)
|
|
|
NM_001009944.3(PKD1):c.5912dup (p.Ser1972fs)
|
rs2151790839
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5989C>T (p.Gln1997Ter)
|
|
|
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.6184C>T (p.Gln2062Ter)
|
rs750843149
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6398dup (p.Val2134fs)
|
rs1555454467
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)
|
rs2092423837
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6491C>G (p.Ser2164Ter)
|
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs)
|
rs2092420672
|
|
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.6715_6716del (p.Thr2239fs)
|
rs2151786492
|
|
NM_001009944.3(PKD1):c.6727C>T (p.Gln2243Ter)
|
rs1567191609
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs)
|
|
|
NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter)
|
rs1064793762
|
|
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)
|
rs1555453395
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
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.7489+1G>A
|
|
|
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)
|
rs2151772321
|
|
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.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)
|
rs764840802
|
|
NM_001009944.3(PKD1):c.7948_7949del (p.Leu2650fs)
|
|
|
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)
|
rs1567182193
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)
|
rs1222094213
|
|
NM_001009944.3(PKD1):c.8320_8321del (p.Leu2774fs)
|
|
|
NM_001009944.3(PKD1):c.8350C>T (p.Gln2784Ter)
|
|
|
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)
|
rs1057518604
|
|
NM_001009944.3(PKD1):c.8566C>T (p.Gln2856Ter)
|
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.862C>T (p.Gln288Ter)
|
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001009944.3(PKD1):c.8823C>G (p.Tyr2941Ter)
|
rs780322906
|
|
NM_001009944.3(PKD1):c.8898_8911dup (p.Ala2971fs)
|
rs1555450672
|
|
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter)
|
rs200520583
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.8998del (p.Arg3000fs)
|
|
|
NM_001009944.3(PKD1):c.9005C>A (p.Ser3002Ter)
|
|
|
NM_001009944.3(PKD1):c.9083_9084del (p.Glu3028fs)
|
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9296del (p.Asp3099fs)
|
|
|
NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs)
|
|
|
NM_001009944.3(PKD1):c.9347del (p.Gly3116fs)
|
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.954_976del (p.Pro319fs)
|
rs2151823424
|
|
NM_001009944.3(PKD1):c.9616C>T (p.Gln3206Ter)
|
|
|
NM_001009944.3(PKD1):c.9760C>T (p.Gln3254Ter)
|
|
|