NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)
|
rs1567200098
|
0.00003
|
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)
|
rs201780393
|
0.00003
|
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp)
|
rs751946869
|
0.00001
|
NM_001009944.3(PKD1):c.3205C>T (p.Pro1069Ser)
|
rs754703070
|
0.00001
|
NM_001009944.3(PKD1):c.4901G>T (p.Gly1634Val)
|
rs768244952
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.10247del (p.Gly3416fs)
|
rs1596501702
|
|
NM_001009944.3(PKD1):c.10377C>G (p.Tyr3459Ter)
|
rs1596501163
|
|
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu)
|
rs373139880
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.10821+1del
|
rs1596488828
|
|
NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter)
|
rs752356523
|
|
NM_001009944.3(PKD1):c.11122G>T (p.Glu3708Ter)
|
rs1596485816
|
|
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)
|
rs1555446576
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys)
|
rs138629093
|
|
NM_001009944.3(PKD1):c.11412-2dup
|
rs1596481858
|
|
NM_001009944.3(PKD1):c.11432G>A (p.Cys3811Tyr)
|
rs1596481794
|
|
NM_001009944.3(PKD1):c.11482GAG[1] (p.Glu3829del)
|
rs1596481630
|
|
NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs)
|
rs1596480400
|
|
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu)
|
rs754037517
|
|
NM_001009944.3(PKD1):c.11921_11942dup (p.Ala3981_Gln3982insHisTer)
|
rs1596476300
|
|
NM_001009944.3(PKD1):c.12003+14_12003+33del
|
rs1567148835
|
|
NM_001009944.3(PKD1):c.12003+5G>T
|
rs1596476034
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.1202-9G>A
|
rs1596588606
|
|
NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs)
|
rs1596475245
|
|
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
NM_001009944.3(PKD1):c.12139-3C>G
|
rs746284946
|
|
NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs)
|
rs1596474115
|
|
NM_001009944.3(PKD1):c.12344dup (p.Glu4116fs)
|
rs1596473434
|
|
NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del)
|
rs1596471581
|
|
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.12701_12702del (p.Glu4234fs)
|
rs1596471547
|
|
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)
|
rs1060499699
|
|
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val)
|
rs1596588261
|
|
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys)
|
rs1567215326
|
|
NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter)
|
rs779227133
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser)
|
rs1596576453
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)
|
rs1596575646
|
|
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly)
|
rs1596575196
|
|
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
|
rs1305213807
|
|
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile)
|
rs1567219544
|
|
NM_001009944.3(PKD1):c.3200T>C (p.Phe1067Ser)
|
rs1596566400
|
|
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
|
rs139100448
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser)
|
rs772389436
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
|
rs1596591955
|
|
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
|
rs1413875287
|
|
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu)
|
rs76981724
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter)
|
rs1596558405
|
|
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly)
|
rs1200234003
|
|
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
|
rs1596557065
|
|
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=)
|
rs777909326
|
|
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
|
rs766683298
|
|
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
|
rs1596556896
|
|
NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter)
|
rs1596555896
|
|
NM_001009944.3(PKD1):c.5411del (p.Gly1804fs)
|
rs1596555413
|
|
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro)
|
rs752388015
|
|
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys)
|
rs1596553232
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)
|
rs1555454460
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7470_7475del (p.Lys2490_His2492delinsAsn)
|
rs1596541230
|
|
NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn)
|
rs139652960
|
|
NM_001009944.3(PKD1):c.7856T>G (p.Leu2619Arg)
|
rs1596538804
|
|
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
NM_001009944.3(PKD1):c.8016+2T>C
|
rs1596536505
|
|
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del)
|
rs1596532130
|
|
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn)
|
rs1596526236
|
|
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser)
|
rs1596523677
|
|
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
|
rs1596522636
|
|
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro)
|
rs576970336
|
|
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly)
|
rs1057518856
|
|
NM_001009944.3(PKD1):c.9201+5G>A
|
rs1596521826
|
|
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)
|
rs1596520985
|
|
NM_001009944.3(PKD1):c.9431G>C (p.Gly3144Ala)
|
rs1596515137
|
|
NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln)
|
rs1596514809
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9826_9829del (p.Thr3276fs)
|
rs1596512729
|
|
NM_001009944.3(PKD1):c.9925A>C (p.Thr3309Pro)
|
rs1596511656
|
|