NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_138694.4(PKHD1):c.1119-18C>G
|
rs367960459
|
0.00053
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
NM_138694.4(PKHD1):c.7911+19T>C
|
rs201017366
|
0.00040
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
NM_138694.4(PKHD1):c.7734-6C>A
|
rs367564272
|
0.00020
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys)
|
rs146680689
|
0.00007
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)
|
rs148356158
|
0.00005
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile)
|
rs147035447
|
0.00004
|
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg)
|
rs146649894
|
0.00004
|
NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met)
|
rs201087689
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_138694.4(PKHD1):c.11310+19C>T
|
rs767496904
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.10132T>G (p.Trp3378Gly)
|
rs1784939891
|
0.00001
|
NM_138694.4(PKHD1):c.11578A>G (p.Ile3860Val)
|
rs755986501
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro)
|
rs776157924
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
GRCh37/hg19 6p12.2(chr6:51801779-51878315)
|
|
|
NC_000006.11:g.(51915094_51917873)_(51930876_51934254)dup
|
|
|
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
|
rs1772559884
|
|
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
|
|
|
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
|
|
|
NM_138694.4(PKHD1):c.1124G>A (p.Arg375Gln)
|
|
|
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
|
|
|
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC
|
rs1554217929
|
|
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg)
|
rs140458350
|
|
NM_138694.4(PKHD1):c.1408G>T (p.Gly470Cys)
|
|
|
NM_138694.4(PKHD1):c.1919A>G (p.Lys640Arg)
|
rs1807314191
|
|
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)
|
rs1806602099
|
|
NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr)
|
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg)
|
rs1562220663
|
|
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala)
|
rs373974753
|
|
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro)
|
rs770882723
|
|
NM_138694.4(PKHD1):c.3349A>G (p.Ile1117Val)
|
|
|
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)
|
rs2128144732
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.5908G>C (p.Gly1970Arg)
|
rs794727592
|
|
NM_138694.4(PKHD1):c.5953G>A (p.Ala1985Thr)
|
rs2127769211
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
NM_138694.4(PKHD1):c.6490+3A>G
|
|
|
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
|
|
|
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu)
|
rs1160054242
|
|
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
|
|
|
NM_138694.4(PKHD1):c.8164A>C (p.Thr2722Pro)
|
rs1268020662
|
|
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp)
|
rs886061615
|
|
NM_138694.4(PKHD1):c.893_895del (p.Asp298_Ile299delinsVal)
|
|
|
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
|
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|