NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys)
|
rs115538130
|
0.00178
|
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)
|
rs777024498
|
0.00012
|
NM_001009944.3(PKD1):c.7065+9C>T
|
rs765688834
|
0.00004
|
NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu)
|
rs1183794501
|
0.00001
|
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)
|
rs1163700577
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs)
|
rs2092667308
|
|
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr)
|
rs2091706456
|
|
NM_001009944.3(PKD1):c.10946C>A (p.Pro3649His)
|
rs2091706289
|
|
NM_001009944.3(PKD1):c.11119C>T (p.Gln3707Ter)
|
rs2091668243
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)
|
rs1555446330
|
|
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs)
|
rs2091620763
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11377_11395dup (p.Ala3799fs)
|
rs2091614437
|
|
NM_001009944.3(PKD1):c.11411+1G>C
|
rs2091612821
|
|
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs)
|
rs2091600536
|
|
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)
|
rs1596481464
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln)
|
rs2091577195
|
|
NM_001009944.3(PKD1):c.11716T>C (p.Cys3906Arg)
|
rs2091502521
|
|
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs)
|
rs2092665584
|
|
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter)
|
rs1555445229
|
|
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs)
|
rs2091483332
|
|
NM_001009944.3(PKD1):c.12039_12040insAC (p.Val4014fs)
|
rs2091472604
|
|
NM_001009944.3(PKD1):c.12139-2A>C
|
rs2091453268
|
|
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg)
|
rs2091436717
|
|
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
|
rs2091413514
|
|
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs)
|
rs2091400717
|
|
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.1303C>T (p.Gln435Ter)
|
rs2092660457
|
|
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys)
|
rs2092659023
|
|
NM_001009944.3(PKD1):c.1606+5G>A
|
rs2092646077
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs)
|
rs2092939979
|
|
NM_001009944.3(PKD1):c.2032del (p.Ala678fs)
|
rs2092615974
|
|
NM_001009944.3(PKD1):c.2085del (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2097+2T>C
|
rs2092614697
|
|
NM_001009944.3(PKD1):c.2097+5G>A
|
rs2092614616
|
|
NM_001009944.3(PKD1):c.2101_2102dup (p.Leu702fs)
|
rs2092604612
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2376_2382del (p.Pro793fs)
|
rs2092599090
|
|
NM_001009944.3(PKD1):c.2396_2421del (p.Arg799fs)
|
rs2092598385
|
|
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.288-2A>G
|
rs2092684358
|
|
NM_001009944.3(PKD1):c.2986-1G>A
|
rs2092557654
|
|
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp)
|
rs2092684149
|
|
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter)
|
rs1231492796
|
|
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
|
rs755084885
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3684del (p.Val1229fs)
|
rs2092503653
|
|
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del)
|
rs2092503169
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro)
|
rs2092490160
|
|
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs)
|
rs2092485909
|
|
NM_001009944.3(PKD1):c.439dup (p.Val147fs)
|
rs2092679105
|
|
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs)
|
rs2092479999
|
|
NM_001009944.3(PKD1):c.4654del (p.Val1552fs)
|
rs2047525622
|
|
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs)
|
rs2092471431
|
|
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs)
|
rs2092458566
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)
|
rs762911981
|
|
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)
|
rs1485307916
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6739G>C (p.Ala2247Pro)
|
rs749515571
|
|
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter)
|
rs546354639
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.711del (p.Ser238fs)
|
rs2092672595
|
|
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del)
|
rs2092343570
|
|
NM_001009944.3(PKD1):c.7369G>T (p.Glu2457Ter)
|
rs2092341848
|
|
NM_001009944.3(PKD1):c.7495del (p.His2499fs)
|
rs2092333316
|
|
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter)
|
rs138871063
|
|
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)
|
rs778979740
|
|
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)
|
rs1567182193
|
|
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)
|
rs2092301272
|
|
NM_001009944.3(PKD1):c.8017-1G>C
|
rs2092263886
|
|
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter)
|
rs151308544
|
|
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter)
|
rs779516086
|
|
NM_001009944.3(PKD1):c.8234_8235insCGTCACCATC (p.Arg2746fs)
|
rs2092206577
|
|
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.9143T>G (p.Leu3048Arg)
|
rs1596522098
|
|
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)
|
rs1596520985
|
|
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu)
|
rs2092119222
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro)
|
rs2092051851
|
|
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs)
|
rs2092026801
|
|
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
|
rs1232180956
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter)
|
rs2092941253
|
|