NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)
|
rs137852950
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
|
rs777976050
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
|
rs1412045164
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)
|
rs1229349983
|
0.00001
|
NM_138694.4(PKHD1):c.11399-1G>A
|
rs1183281205
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)
|
rs759322460
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
0.00001
|
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)
|
rs764696718
|
0.00001
|
NM_138694.4(PKHD1):c.2821+2T>C
|
rs1394431107
|
0.00001
|
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr)
|
rs78624439
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)
|
rs375437755
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
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.6808+1G>T
|
rs1217968843
|
0.00001
|
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)
|
rs794727680
|
0.00001
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)
|
rs367678592
|
0.00001
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs)
|
|
|
NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs)
|
|
|
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter)
|
|
|
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
|
|
|
NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs)
|
|
|
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter)
|
|
|
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs)
|
|
|
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
|
|
|
NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs)
|
|
|
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter)
|
rs2150413999
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs)
|
rs1772389754
|
|
NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter)
|
rs1020902474
|
|
NM_138694.4(PKHD1):c.11310+1G>C
|
rs1365407882
|
|
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter)
|
|
|
NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter)
|
|
|
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)
|
rs1215290114
|
|
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
|
|
|
NM_138694.4(PKHD1):c.11666-2A>G
|
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11770del (p.Thr3924fs)
|
|
|
NM_138694.4(PKHD1):c.11785+1_11785+35del
|
rs761547193
|
|
NM_138694.4(PKHD1):c.1189C>T (p.Gln397Ter)
|
|
|
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
|
|
|
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
|
rs1582013246
|
|
NM_138694.4(PKHD1):c.1396G>A (p.Gly466Arg)
|
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1474C>T (p.Gln492Ter)
|
|
|
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
|
|
|
NM_138694.4(PKHD1):c.1497del (p.Arg499fs)
|
|
|
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)
|
rs1582002018
|
|
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_138694.4(PKHD1):c.1617del (p.Ile539fs)
|
|
|
NM_138694.4(PKHD1):c.1626del (p.Leu542fs)
|
|
|
NM_138694.4(PKHD1):c.1693+2T>C
|
|
|
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)
|
rs1581992845
|
|
NM_138694.4(PKHD1):c.1700_1704dup (p.Ser569fs)
|
|
|
NM_138694.4(PKHD1):c.1836+1G>A
|
rs780898021
|
|
NM_138694.4(PKHD1):c.1856del (p.Gly619fs)
|
rs1807328375
|
|
NM_138694.4(PKHD1):c.1954_1957dup (p.Pro653fs)
|
|
|
NM_138694.4(PKHD1):c.1964+2T>C
|
|
|
NM_138694.4(PKHD1):c.1965-1G>T
|
|
|
NM_138694.4(PKHD1):c.2017del (p.Asp673fs)
|
rs1581974348
|
|
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)
|
|
|
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs)
|
rs2128196889
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)
|
rs1064796287
|
|
NM_138694.4(PKHD1):c.2532C>G (p.Tyr844Ter)
|
|
|
NM_138694.4(PKHD1):c.257del (p.Leu86fs)
|
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.2648_2649del (p.Val882_Tyr883insTer)
|
|
|
NM_138694.4(PKHD1):c.2681del (p.Gly894fs)
|
|
|
NM_138694.4(PKHD1):c.2715+1G>A
|
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2799_2809del (p.His934fs)
|
|
|
NM_138694.4(PKHD1):c.281+1G>A
|
rs1582154630
|
|
NM_138694.4(PKHD1):c.281+2T>G
|
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.282-1G>T
|
|
|
NM_138694.4(PKHD1):c.282-2A>T
|
rs1554227278
|
|
NM_138694.4(PKHD1):c.2822-1G>C
|
rs1554208257
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.3062del (p.Leu1021fs)
|
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer)
|
|
|
NM_138694.4(PKHD1):c.3364+1G>T
|
|
|
NM_138694.4(PKHD1):c.3365-3C>T
|
rs2128153381
|
|
NM_138694.4(PKHD1):c.3421del (p.Val1141fs)
|
|
|
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs)
|
rs2128152615
|
|
NM_138694.4(PKHD1):c.3548_3557del (p.Ile1183fs)
|
|
|
NM_138694.4(PKHD1):c.3560+1G>T
|
|
|
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3830_3843dup (p.Pro1282fs)
|
|
|
NM_138694.4(PKHD1):c.3864dup (p.Lys1289fs)
|
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs)
|
|
|
NM_138694.4(PKHD1):c.407dup (p.Pro137fs)
|
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)
|
rs1226122841
|
|
NM_138694.4(PKHD1):c.421del (p.Gln141fs)
|
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4274T>G (p.Leu1425Arg)
|
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs)
|
|
|
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs)
|
|
|
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs)
|
|
|
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs)
|
|
|
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs)
|
rs1801949246
|
|
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer)
|
rs1057516626
|
|
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs)
|
rs2128142414
|
|
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs)
|
rs1057516885
|
|
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs)
|
rs2128142132
|
|
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
|
rs1801882752
|
|
NM_138694.4(PKHD1):c.5236+1G>C
|
|
|
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
|
|
|
NM_138694.4(PKHD1):c.5380+1G>C
|
|
|
NM_138694.4(PKHD1):c.538_542delinsC (p.Leu180fs)
|
|
|
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)
|
|
|
NM_138694.4(PKHD1):c.5441dup (p.His1814fs)
|
rs908880474
|
|
NM_138694.4(PKHD1):c.5600+1G>A
|
rs1581763359
|
|
NM_138694.4(PKHD1):c.5609T>A (p.Leu1870Ter)
|
|
|
NM_138694.4(PKHD1):c.5611G>T (p.Glu1871Ter)
|
|
|
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
|
|
|
NM_138694.4(PKHD1):c.5699_5706del (p.Pro1900fs)
|
|
|
NM_138694.4(PKHD1):c.5751+2T>G
|
|
|
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
|
|
|
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
|
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)
|
rs1210348558
|
|
NM_138694.4(PKHD1):c.602+5G>A
|
|
|
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter)
|
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
NM_138694.4(PKHD1):c.6125C>A (p.Ser2042Ter)
|
|
|
NM_138694.4(PKHD1):c.6273_6285delinsGAG (p.Glu2092fs)
|
|
|
NM_138694.4(PKHD1):c.6285del (p.Val2096fs)
|
|
|
NM_138694.4(PKHD1):c.6312_6313del (p.Tyr2105fs)
|
|
|
NM_138694.4(PKHD1):c.6332+1G>A
|
|
|
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs)
|
rs1783005266
|
|
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)
|
rs369925690
|
|
NM_138694.4(PKHD1):c.6667_6668delinsTGA (p.Val2223Ter)
|
|
|
NM_138694.4(PKHD1):c.6683-2A>G
|
|
|
NM_138694.4(PKHD1):c.6702C>A (p.Cys2234Ter)
|
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs)
|
rs760921148
|
|
NM_138694.4(PKHD1):c.6865+2T>C
|
|
|
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA
|
rs1562581286
|
|
NM_138694.4(PKHD1):c.6870G>A (p.Trp2290Ter)
|
|
|
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
|
|
|
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter)
|
|
|
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter)
|
rs1057516221
|
|
NM_138694.4(PKHD1):c.7108del (p.Arg2370fs)
|
|
|
NM_138694.4(PKHD1):c.7109+2T>A
|
|
|
NM_138694.4(PKHD1):c.7109+3A>C
|
rs1583202788
|
|
NM_138694.4(PKHD1):c.7128C>G (p.Tyr2376Ter)
|
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7300del (p.Ala2434fs)
|
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.7466C>G (p.Ser2489Ter)
|
|
|
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser)
|
|
|
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs)
|
rs1775351921
|
|
NM_138694.4(PKHD1):c.7721dup (p.Met2574fs)
|
|
|
NM_138694.4(PKHD1):c.7733+1G>C
|
|
|
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter)
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NM_138694.4(PKHD1):c.778+1G>C
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rs753471298
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NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs)
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NM_138694.4(PKHD1):c.7929del (p.Asp2643fs)
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NM_138694.4(PKHD1):c.792_793del (p.Phe265fs)
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NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
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rs1583013487
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NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)
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rs778592523
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NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
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rs1769233531
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NM_138694.4(PKHD1):c.8174-2A>T
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rs1582925274
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NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)
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rs886042676
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NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)
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rs2151512212
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NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
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NM_138694.4(PKHD1):c.852dup (p.Asp285Ter)
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rs2128223990
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NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)
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rs746625317
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NM_138694.4(PKHD1):c.8578del (p.Tyr2860fs)
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NM_138694.4(PKHD1):c.8604del (p.Ser2867_Trp2868insTer)
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NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
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rs1554221465
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NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)
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rs1582479341
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NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)
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rs749768205
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NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer)
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|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
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rs1582053820
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NM_138694.4(PKHD1):c.9003C>A (p.Tyr3001Ter)
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NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
|
rs775628123
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NM_138694.4(PKHD1):c.9005C>A (p.Ser3002Ter)
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NM_138694.4(PKHD1):c.9166C>T (p.Gln3056Ter)
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NM_138694.4(PKHD1):c.9169del (p.Ala3057fs)
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|
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NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter)
|
rs1250269841
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NM_138694.4(PKHD1):c.9345del (p.Glu3115fs)
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|
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NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter)
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|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
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NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
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|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
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rs797045101
|
|
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)
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|
|
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs)
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|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
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NM_138694.4(PKHD1):c.977-2A>G
|
|
|
NM_138694.4(PKHD1):c.9830-18_9842del
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|
|
NM_138694.4(PKHD1):c.9830-1G>A
|
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
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|
|
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs)
|
|
|
NM_138694.4(PKHD1):c.9974del (p.Phe3325fs)
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|
|
NM_138694.4(PKHD1):c.9998+1G>T
|
rs1554217691
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter)
|
rs747165958
|
|