NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.3229-2del
|
rs1057516283
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs)
|
rs1554216571
|
|
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
|
rs1554216538
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs)
|
rs760260903
|
|
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer)
|
rs1554183763
|
|
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs)
|
rs1057517249
|
|
NM_138694.4(PKHD1):c.10411del (p.Val3471fs)
|
rs1554183588
|
|
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs)
|
rs1057516835
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs)
|
rs1057517326
|
|
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs)
|
rs1554183480
|
|
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs)
|
rs1554183446
|
|
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)
|
rs1057516345
|
|
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer)
|
rs1554183320
|
|
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs)
|
rs1057516652
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer)
|
rs1554183204
|
|
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)
|
rs1554219429
|
|
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)
|
rs1057517047
|
|
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs)
|
rs1554183012
|
|
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs)
|
rs1554176517
|
|
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs)
|
rs1554176343
|
|
NM_138694.4(PKHD1):c.11311-2A>G
|
rs1554174903
|
|
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs)
|
rs1554174796
|
|
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs)
|
rs1554169567
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.11785+1G>T
|
rs1488844530
|
|
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)
|
rs1554229312
|
|
NM_138694.4(PKHD1):c.1205del (p.Phe402fs)
|
rs1057517178
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1409del (p.Gly470fs)
|
rs1057516975
|
|
NM_138694.4(PKHD1):c.156dup (p.Asn53fs)
|
rs773991918
|
|
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)
|
rs1554216499
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.2140+1G>C
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2140+1G>T
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2141-2A>C
|
rs1554212403
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)
|
rs1057516608
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs)
|
rs1554211308
|
|
NM_138694.4(PKHD1):c.2408-2A>G
|
rs1554210085
|
|
NM_138694.4(PKHD1):c.2590del (p.Arg864fs)
|
rs1057516709
|
|
NM_138694.4(PKHD1):c.2715+1G>C
|
rs1554209188
|
|
NM_138694.4(PKHD1):c.2715+2_2715+14del
|
rs1057516562
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.282-2A>T
|
rs1554227278
|
|
NM_138694.4(PKHD1):c.2822-1G>C
|
rs1554208257
|
|
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.3097+2T>C
|
rs1554207834
|
|
NM_138694.4(PKHD1):c.3228+1G>C
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3228+1G>T
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)
|
rs1057516922
|
|
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs)
|
rs1554200778
|
|
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)
|
rs886061619
|
|
NM_138694.4(PKHD1):c.3561-2A>G
|
rs1057516982
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs)
|
rs1554199349
|
|
NM_138694.4(PKHD1):c.390+1del
|
rs1554227162
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer)
|
rs1554199226
|
|
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs)
|
rs1057516594
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.448+2T>C
|
rs1057517270
|
|
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs)
|
rs1057516382
|
|
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer)
|
rs1554224707
|
|
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)
|
rs1057517220
|
|
NM_138694.4(PKHD1):c.5237-2A>C
|
rs1554197152
|
|
NM_138694.4(PKHD1):c.527+1del
|
rs1057516697
|
|
NM_138694.4(PKHD1):c.53-2A>G
|
rs1554228601
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)
|
rs1554194511
|
|
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter)
|
rs1057516692
|
|
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer)
|
rs1554194504
|
|
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs)
|
rs1554191298
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5909-2del
|
rs1334913120
|
|
NM_138694.4(PKHD1):c.603-1G>A
|
rs1554223403
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA
|
rs1057517378
|
|
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs)
|
rs1554134080
|
|
NM_138694.4(PKHD1):c.6490+1G>A
|
rs1554133736
|
|
NM_138694.4(PKHD1):c.6491-1G>A
|
rs1554132790
|
|
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter)
|
rs1057516706
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs)
|
rs760921148
|
|
NM_138694.4(PKHD1):c.6866-16_6866del
|
rs1554299291
|
|
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter)
|
rs1057516441
|
|
NM_138694.4(PKHD1):c.707+2T>C
|
rs1554222939
|
|
NM_138694.4(PKHD1):c.708-1G>A
|
rs1554222508
|
|
NM_138694.4(PKHD1):c.708-2A>C
|
rs753492974
|
|
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)
|
rs1057516221
|
|
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs)
|
rs1057516596
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7486+1G>T
|
rs1554282419
|
|
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)
|
rs1057516768
|
|
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)
|
rs1057516751
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs)
|
rs1057516690
|
|
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer)
|
rs1057516607
|
|
NM_138694.4(PKHD1):c.7912-1G>A
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7912-2A>G
|
rs1554271235
|
|
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter)
|
rs1057516490
|
|
NM_138694.4(PKHD1):c.8107+1G>C
|
rs1554270880
|
|
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs)
|
rs1057516775
|
|
NM_138694.4(PKHD1):c.8303-2A>G
|
rs1554243821
|
|
NM_138694.4(PKHD1):c.8555-2A>G
|
rs1020621286
|
|
NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
|
rs1554221465
|
|
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)
|
rs749768205
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs)
|
rs1057517244
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs)
|
rs1057517387
|
|
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer)
|
rs1554218926
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
|
|
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs)
|
rs1057516413
|
|
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs)
|
rs1554218519
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs)
|
rs751754608
|
|
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter)
|
rs1057517357
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9998+1G>T
|
rs1554217691
|
|