NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
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.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
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.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
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.1774C>T (p.Arg592Ter)
|
rs779050294
|
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.9338del (p.Ser3113fs)
|
rs1388716999
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)
|
rs765934021
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
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.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.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
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.11630del (p.Leu3877fs)
|
rs747170980
|
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.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)
|
rs759322460
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)
|
rs376987651
|
0.00001
|
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)
|
rs727504090
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
|
rs767737392
|
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.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)
|
rs1554200780
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
|
rs1278235097
|
0.00001
|
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)
|
rs1350620976
|
0.00001
|
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)
|
rs375437755
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)
|
rs770522674
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)
|
rs1313206550
|
0.00001
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
NM_138694.4(PKHD1):c.6808+1G>T
|
rs1217968843
|
0.00001
|
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter)
|
rs1436814142
|
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.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)
|
rs137852947
|
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.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
|
rs779168950
|
0.00001
|
NM_138694.4(PKHD1):c.8642+1G>A
|
rs1485161784
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly)
|
rs1477456222
|
0.00001
|
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
|
rs1242089464
|
0.00001
|
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)
|
rs758732107
|
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
|
GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)
|
|
|
NC_000006.11:g.(?_51483869)_(51949741_?)del
|
|
|
NC_000006.11:g.(?_51483879)_(51484338_?)del
|
|
|
NC_000006.11:g.(?_51483879)_(51949731_?)del
|
|
|
NC_000006.11:g.(?_51513863)_(51514038_?)del
|
|
|
NC_000006.11:g.(?_51523740)_(51524777_?)del
|
|
|
NC_000006.11:g.(?_51586774)_(51752053_?)del
|
|
|
NC_000006.11:g.(?_51611509)_(51611697_?)del
|
|
|
NC_000006.11:g.(?_51612575)_(51618161_?)del
|
|
|
NC_000006.11:g.(?_51612985)_(51637140_?)del
|
|
|
NC_000006.11:g.(?_51619713)_(51620576_?)del
|
|
|
NC_000006.11:g.(?_51637490)_(51637597_?)del
|
|
|
NC_000006.11:g.(?_51637490)_(51640729_?)del
|
|
|
NC_000006.11:g.(?_51695649)_(51720878_?)del
|
|
|
NC_000006.11:g.(?_51701182)_(51701287_?)del
|
|
|
NC_000006.11:g.(?_51701192)_(51701277_?)del
|
|
|
NC_000006.11:g.(?_51732651)_(51752053_?)del
|
|
|
NC_000006.11:g.(?_51747238)_(51748045_?)del
|
|
|
NC_000006.11:g.(?_51747238)_(51752053_?)del
|
|
|
NC_000006.11:g.(?_51768375)_(51774292_?)del
|
|
|
NC_000006.11:g.(?_51824648)_(51824844_?)del
|
|
|
NC_000006.11:g.(?_51892607)_(51893169_?)del
|
|
|
NC_000006.11:g.(?_51900369)_(51900539_?)del
|
|
|
NC_000006.11:g.(?_51910782)_(51911006_?)del
|
|
|
NC_000006.11:g.(?_51924716)_(51924850_?)del
|
|
|
NC_000006.11:g.(?_51934235)_(51941151_?)del
|
|
|
NC_000006.11:g.(?_51936903)_(51938349_?)del
|
|
|
NC_000006.11:g.(?_51949670)_(51949741_?)del
|
|
|
NC_000006.12:g.(?_51632545)_(51648138_?)del
|
|
|
NC_000006.12:g.(?_51959860)_(52010469_?)del
|
|
|
NC_000006.12:g.(?_52053066)_(52054175_?)del
|
|
|
NC_000006.12:g.(?_52055567)_(52055749_?)del
|
|
|
NC_000006.12:g.52082543del
|
|
|
NM_000297.4(PKD2):c.670del (p.Leu224fs)
|
rs1553924173
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001037160.3(CYS1):c.318+5G>A
|
rs1201981092
|
|
NM_138694.3(PKHD1):c.8108-?_8173+?del
|
|
|
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.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)
|
rs1334145215
|
|
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter)
|
rs2150962096
|
|
NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)
|
|
|
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
|
rs1446729264
|
|
NM_138694.4(PKHD1):c.10334del (p.Asn3445fs)
|
rs2150417202
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
NM_138694.4(PKHD1):c.10392del (p.Ile3465fs)
|
rs2150416702
|
|
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs)
|
|
|
NM_138694.4(PKHD1):c.10411del (p.Val3471fs)
|
rs1554183588
|
|
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs)
|
rs1554183559
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10529T>G (p.Leu3510Ter)
|
|
|
NM_138694.4(PKHD1):c.10561C>T (p.Gln3521Ter)
|
rs2150415240
|
|
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser)
|
rs1554183398
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
|
|
|
NM_138694.4(PKHD1):c.10673del (p.Gly3558fs)
|
rs2150414452
|
|
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter)
|
rs1554219449
|
|
NM_138694.4(PKHD1):c.10708del (p.Ser3570fs)
|
|
|
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)
|
rs1057516345
|
|
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs)
|
|
|
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs)
|
rs1195276132
|
|
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)
|
rs780182068
|
|
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)
|
|
|
NM_138694.4(PKHD1):c.10850_10862dup (p.Asn3621fs)
|
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
|
rs1554183235
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer)
|
rs1554183204
|
|
NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter)
|
|
|
NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)
|
|
|
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)
|
rs765390756
|
|
NM_138694.4(PKHD1):c.10976C>G (p.Ser3659Ter)
|
rs1562040106
|
|
NM_138694.4(PKHD1):c.10984_10987del (p.Ile3662fs)
|
rs1772384576
|
|
NM_138694.4(PKHD1):c.11060delinsTT (p.Gln3687fs)
|
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
|
|
|
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)
|
rs1554176504
|
|
NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter)
|
rs778676351
|
|
NM_138694.4(PKHD1):c.1131_1132insA (p.Gly378fs)
|
rs2128215670
|
|
NM_138694.4(PKHD1):c.1136dup (p.Phe380fs)
|
|
|
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)
|
rs1215290114
|
|
NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs)
|
rs2150329535
|
|
NM_138694.4(PKHD1):c.11416del (p.Thr3806fs)
|
|
|
NM_138694.4(PKHD1):c.11435_11441del (p.Ser3812fs)
|
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
|
|
|
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter)
|
rs2150329160
|
|
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter)
|
rs1768958447
|
|
NM_138694.4(PKHD1):c.11566A>T (p.Lys3856Ter)
|
rs1409782065
|
|
NM_138694.4(PKHD1):c.1157del (p.Asn386fs)
|
rs2128215604
|
|
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)
|
rs1554167673
|
|
NM_138694.4(PKHD1):c.11613G>A (p.Trp3871Ter)
|
|
|
NM_138694.4(PKHD1):c.11685del (p.Pro3896fs)
|
|
|
NM_138694.4(PKHD1):c.11697_11785+527delinsTTAGG
|
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11766del (p.Asp3923fs)
|
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.11785+1G>T
|
rs1488844530
|
|
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)
|
rs1582024305
|
|
NM_138694.4(PKHD1):c.11821C>T (p.Gln3941Ter)
|
|
|
NM_138694.4(PKHD1):c.11830del (p.His3944fs)
|
rs774086520
|
|
NM_138694.4(PKHD1):c.1197del (p.Leu400fs)
|
rs766857175
|
|
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)
|
rs1554229312
|
|
NM_138694.4(PKHD1):c.1205del (p.Phe402fs)
|
rs1057517178
|
|
NM_138694.4(PKHD1):c.1227del (p.Thr410fs)
|
rs1808421350
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1233+99_1694-441del
|
|
|
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
|
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
|
|
|
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter)
|
rs2128212671
|
|
NM_138694.4(PKHD1):c.1305del (p.Thr436fs)
|
rs1808150555
|
|
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
|
rs1582013246
|
|
NM_138694.4(PKHD1):c.134_154delinsAG (p.Leu45_Pro52delinsTer)
|
rs1812193678
|
|
NM_138694.4(PKHD1):c.1350del (p.Met451fs)
|
|
|
NM_138694.4(PKHD1):c.1356C>G (p.Tyr452Ter)
|
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter)
|
|
|
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
|
|
|
NM_138694.4(PKHD1):c.1529del (p.Gly510fs)
|
rs1807855713
|
|
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)
|
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
|
|
|
NM_138694.4(PKHD1):c.1693+2T>G
|
rs1581999471
|
|
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
|
|
|
NM_138694.4(PKHD1):c.1820dup (p.Asp608fs)
|
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.1849_1850dup (p.Lys618fs)
|
|
|
NM_138694.4(PKHD1):c.1854del (p.Gly619fs)
|
rs1807328785
|
|
NM_138694.4(PKHD1):c.1856del (p.Gly619fs)
|
rs1807328375
|
|
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)
|
rs786204696
|
|
NM_138694.4(PKHD1):c.1967G>A (p.Trp656Ter)
|
rs2128203970
|
|
NM_138694.4(PKHD1):c.1968G>T (p.Trp656Cys)
|
rs1209068432
|
|
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)
|
rs727504092
|
|
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter)
|
rs2128203862
|
|
NM_138694.4(PKHD1):c.2059C>T (p.Gln687Ter)
|
rs2128203606
|
|
NM_138694.4(PKHD1):c.2085_2086insA (p.Glu696fs)
|
rs2128203474
|
|
NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn)
|
rs2128203385
|
|
NM_138694.4(PKHD1):c.210dup (p.Ala71fs)
|
|
|
NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr)
|
|
|
NM_138694.4(PKHD1):c.2135dup (p.Thr713fs)
|
|
|
NM_138694.4(PKHD1):c.2140+1G>A
|
rs1554213853
|
|
NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs)
|
rs1581956689
|
|
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs)
|
rs2128196889
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2201_2202del (p.Val734fs)
|
rs1806590811
|
|
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter)
|
rs1806573538
|
|
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.2280-1G>A
|
|
|
NM_138694.4(PKHD1):c.2339_2340del (p.Arg780fs)
|
rs2128192920
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2555G>A (p.Trp852Ter)
|
|
|
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter)
|
rs1805754682
|
|
NM_138694.4(PKHD1):c.2590del (p.Arg864fs)
|
rs1057516709
|
|
NM_138694.4(PKHD1):c.2601del (p.Asp867fs)
|
|
|
NM_138694.4(PKHD1):c.2606del (p.Asn869fs)
|
|
|
NM_138694.4(PKHD1):c.2664_2665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGGGAGAGGGAGAGGGAGCATGATGGTGGAGTTTTT (p.Leu889fs)
|
|
|
NM_138694.4(PKHD1):c.2688_2696delinsA (p.Met896fs)
|
rs1805550477
|
|
NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter)
|
rs1805547113
|
|
NM_138694.4(PKHD1):c.2733del (p.Asn911fs)
|
rs2128184202
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2796T>A (p.Cys932Ter)
|
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.2846del (p.Tyr949fs)
|
rs2128182991
|
|
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.2932del (p.Gln978fs)
|
rs2128182780
|
|
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)
|
rs1581910796
|
|
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)
|
rs2128182593
|
|
NM_138694.4(PKHD1):c.2T>C (p.Met1Thr)
|
rs2128246846
|
|
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu)
|
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.312_313del (p.Tyr105fs)
|
|
|
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
|
|
|
NM_138694.4(PKHD1):c.3225del (p.Arg1076fs)
|
|
|
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs)
|
rs1803325484
|
|
NM_138694.4(PKHD1):c.3300del (p.Phe1100fs)
|
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.330C>G (p.Tyr110Ter)
|
|
|
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)
|
rs1057516922
|
|
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs)
|
|
|
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser)
|
rs1803308145
|
|
NM_138694.4(PKHD1):c.337G>T (p.Gly113Ter)
|
rs2128240429
|
|
NM_138694.4(PKHD1):c.338del (p.Gly113fs)
|
|
|
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)
|
rs1554227215
|
|
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs)
|
rs1554200778
|
|
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter)
|
rs1802523270
|
|
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs)
|
|
|
NM_138694.4(PKHD1):c.3549del (p.His1184fs)
|
rs1802504786
|
|
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_138694.4(PKHD1):c.3589dup (p.Glu1197fs)
|
rs2128151635
|
|
NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter)
|
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter)
|
|
|
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs)
|
rs2128146668
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs)
|
|
|
NM_138694.4(PKHD1):c.3815G>A (p.Trp1272Ter)
|
|
|
NM_138694.4(PKHD1):c.3837_3838del (p.Arg1280fs)
|
|
|
NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter)
|
|
|
NM_138694.4(PKHD1):c.390+1G>A
|
rs752327566
|
|
NM_138694.4(PKHD1):c.390+1del
|
rs1554227162
|
|
NM_138694.4(PKHD1):c.3907del (p.Val1303fs)
|
rs1581812192
|
|
NM_138694.4(PKHD1):c.3921del (p.Gly1308fs)
|
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.3958G>T (p.Gly1320Ter)
|
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4026del (p.Phe1343fs)
|
rs2128145291
|
|
NM_138694.4(PKHD1):c.4034del (p.Gly1345fs)
|
rs2128145261
|
|
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs)
|
rs1581810497
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.411_414dup (p.Val139fs)
|
rs2128236822
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.4183_4184dup (p.Pro1396fs)
|
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4224del (p.Thr1408_Val1409insTer)
|
rs2128144542
|
|
NM_138694.4(PKHD1):c.4235del (p.Leu1412fs)
|
rs2128144488
|
|
NM_138694.4(PKHD1):c.424del (p.Val142fs)
|
rs2128236801
|
|
NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter)
|
|
|
NM_138694.4(PKHD1):c.4295del (p.Val1432fs)
|
rs1246693314
|
|
NM_138694.4(PKHD1):c.4328del (p.Cys1443fs)
|
|
|
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)
|
rs1581808463
|
|
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs)
|
rs1554198780
|
|
NM_138694.4(PKHD1):c.4375_4390del (p.Leu1459fs)
|
|
|
NM_138694.4(PKHD1):c.4415G>A (p.Cys1472Tyr)
|
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)
|
rs1554198717
|
|
NM_138694.4(PKHD1):c.4436dup (p.Ile1480fs)
|
rs1801998818
|
|
NM_138694.4(PKHD1):c.4444_4450del (p.Glu1482fs)
|
|
|
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs)
|
rs1325403863
|
|
NM_138694.4(PKHD1):c.448G>T (p.Gly150Ter)
|
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.4496del (p.Leu1499fs)
|
|
|
NM_138694.4(PKHD1):c.4519C>T (p.Gln1507Ter)
|
|
|
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter)
|
rs1433540169
|
|
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)
|
rs1057516691
|
|
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)
|
rs1057516263
|
|
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs)
|
rs2128143028
|
|
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs)
|
rs1801949246
|
|
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs)
|
|
|
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)
|
rs727504087
|
|
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs)
|
rs2128142610
|
|
NM_138694.4(PKHD1):c.47T>A (p.Leu16Ter)
|
|
|
NM_138694.4(PKHD1):c.4816del (p.Val1606fs)
|
rs2128142490
|
|
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs)
|
rs2128142414
|
|
NM_138694.4(PKHD1):c.484G>T (p.Gly162Ter)
|
rs1210505160
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs)
|
rs2128142132
|
|
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter)
|
rs779028446
|
|
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)
|
rs28937907
|
|
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)
|
rs2128141956
|
|
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)
|
rs1057517220
|
|
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
|
rs1801882752
|
|
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr)
|
|
|
NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser)
|
|
|
NM_138694.4(PKHD1):c.507del (p.Phe169fs)
|
rs2128233864
|
|
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
|
|
|
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
|
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
|
|
NM_138694.4(PKHD1):c.525del (p.Asp175fs)
|
rs1810924520
|
|
NM_138694.4(PKHD1):c.5261_5262del (p.His1754fs)
|
|
|
NM_138694.4(PKHD1):c.5310_5311del (p.Cys1770fs)
|
|
|
NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter)
|
rs2128138552
|
|
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs)
|
rs794727572
|
|
NM_138694.4(PKHD1):c.5334dup (p.Asn1779Ter)
|
rs1801600694
|
|
NM_138694.4(PKHD1):c.5374del (p.Leu1792fs)
|
rs2128138378
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
NM_138694.4(PKHD1):c.5420del (p.Asp1807fs)
|
|
|
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)
|
rs1554194511
|
|
NM_138694.4(PKHD1):c.5462del (p.Asp1820_Leu1821insTer)
|
rs2128130342
|
|
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter)
|
rs2128231908
|
|
NM_138694.4(PKHD1):c.5502G>A (p.Trp1834Ter)
|
rs1800728912
|
|
NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter)
|
|
|
NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)
|
|
|
NM_138694.4(PKHD1):c.5585C>A (p.Ser1862Ter)
|
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
|
|
NM_138694.4(PKHD1):c.5656del (p.Met1886fs)
|
|
|
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs)
|
rs1581727260
|
|
NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter)
|
rs2128117147
|
|
NM_138694.4(PKHD1):c.5742del (p.Asn1915fs)
|
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
|
NM_138694.4(PKHD1):c.575_578del (p.Ser192fs)
|
|
|
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
|
rs1791765505
|
|
NM_138694.4(PKHD1):c.5767_5768del (p.Gln1923fs)
|
rs2127947553
|
|
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
|
|
|
NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter)
|
rs1791760028
|
|
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
|
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5858del (p.Leu1953fs)
|
rs2127946739
|
|
NM_138694.4(PKHD1):c.5909-46_5943del
|
rs2127769312
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs)
|
rs1561921358
|
|
NM_138694.4(PKHD1):c.5994_5998del (p.Gly1999fs)
|
|
|
NM_138694.4(PKHD1):c.5995G>T (p.Gly1999Ter)
|
rs2127768828
|
|
NM_138694.4(PKHD1):c.6001G>T (p.Glu2001Ter)
|
|
|
NM_138694.4(PKHD1):c.6008del (p.Lys2003fs)
|
rs2127768716
|
|
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs)
|
rs1561920869
|
|
NM_138694.4(PKHD1):c.6077del (p.Gly2026fs)
|
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6111_6112insG (p.Ser2038fs)
|
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
|
|
|
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs)
|
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.6336T>G (p.Tyr2112Ter)
|
rs2127664665
|
|
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)
|
|
|
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)
|
rs1783006864
|
|
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)
|
rs1405067373
|
|
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs)
|
rs1783005266
|
|
NM_138694.4(PKHD1):c.6392dup (p.Val2132fs)
|
rs2127664245
|
|
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
|
|
|
NM_138694.4(PKHD1):c.6472G>T (p.Glu2158Ter)
|
|
|
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter)
|
rs368263958
|
|
NM_138694.4(PKHD1):c.6506_6511delinsC (p.Cys2169fs)
|
|
|
NM_138694.4(PKHD1):c.6508_6511del (p.Leu2170fs)
|
|
|
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter)
|
rs1782629977
|
|
NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter)
|
|
|
NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu)
|
|
|
NM_138694.4(PKHD1):c.6658del (p.Leu2220fs)
|
rs2127651823
|
|
NM_138694.4(PKHD1):c.6765del (p.Asp2255fs)
|
|
|
NM_138694.4(PKHD1):c.6778del (p.Tyr2260fs)
|
rs1782064827
|
|
NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu)
|
|
|
NM_138694.4(PKHD1):c.6805_6806insCTAT (p.Val2269fs)
|
|
|
NM_138694.4(PKHD1):c.6835del (p.Ser2279fs)
|
|
|
NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter)
|
rs758404336
|
|
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)
|
rs1583295819
|
|
NM_138694.4(PKHD1):c.690dup (p.Val231fs)
|
rs2128229183
|
|
NM_138694.4(PKHD1):c.6929del (p.Gly2310fs)
|
|
|
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
|
|
|
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs)
|
|
|
NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter)
|
|
|
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs)
|
rs1583203255
|
|
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)
|
rs1554289495
|
|
NM_138694.4(PKHD1):c.7138C>T (p.Gln2380Ter)
|
|
|
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter)
|
rs757590581
|
|
NM_138694.4(PKHD1):c.7171_7172del (p.Leu2391fs)
|
|
|
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs)
|
|
|
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
|
|
|
NM_138694.4(PKHD1):c.7253_7254del (p.Lys2418fs)
|
|
|
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter)
|
rs1582085757
|
|
NM_138694.4(PKHD1):c.7351-1G>C
|
rs1554282540
|
|
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)
|
rs1037991711
|
|
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter)
|
rs1231660958
|
|
NM_138694.4(PKHD1):c.7417del (p.Thr2473fs)
|
|
|
NM_138694.4(PKHD1):c.7465del (p.Ser2489fs)
|
rs2151777326
|
|
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter)
|
rs2151777194
|
|
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)
|
rs1057516768
|
|
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)
|
rs769645972
|
|
NM_138694.4(PKHD1):c.7529_7530del (p.Ser2510fs)
|
rs2151761823
|
|
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs)
|
rs863224528
|
|
NM_138694.4(PKHD1):c.7594_7597del (p.Ser2532fs)
|
|
|
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs)
|
rs1775351921
|
|
NM_138694.4(PKHD1):c.7651_7652dup (p.Leu2551fs)
|
|
|
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)
|
rs1057516751
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
NM_138694.4(PKHD1):c.7765_7766delinsT (p.Thr2589fs)
|
rs1773247172
|
|
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs)
|
rs1583054534
|
|
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs)
|
|
|
NM_138694.4(PKHD1):c.7880_7881del (p.Gln2626_Ser2627insTer)
|
|
|
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)
|
rs1583053996
|
|
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs)
|
rs1045491786
|
|
NM_138694.4(PKHD1):c.7912-1G>A
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7912-1G>C
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.7944del (p.Asn2649fs)
|
|
|
NM_138694.4(PKHD1):c.7950C>G (p.Tyr2650Ter)
|
|
|
NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg)
|
|
|
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter)
|
rs1482563973
|
|
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
|
rs1583013487
|
|
NM_138694.4(PKHD1):c.7985_7986del (p.Pro2662fs)
|
|
|
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
|
|
|
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)
|
rs754448530
|
|
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
|
rs774050795
|
|
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)
|
rs1473182306
|
|
NM_138694.4(PKHD1):c.8128C>T (p.Gln2710Ter)
|
rs2151549840
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)
|
rs886042676
|
|
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)
|
rs2151512212
|
|
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)
|
rs2151512054
|
|
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)
|
rs2151512076
|
|
NM_138694.4(PKHD1):c.820dup (p.Arg274fs)
|
rs1582064844
|
|
NM_138694.4(PKHD1):c.821_822del (p.Arg274fs)
|
|
|
NM_138694.4(PKHD1):c.8289del (p.Leu2764fs)
|
rs1768123584
|
|
NM_138694.4(PKHD1):c.8303-1G>A
|
rs786204241
|
|
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
|
|
|
NM_138694.4(PKHD1):c.8409C>A (p.Cys2803Ter)
|
|
|
NM_138694.4(PKHD1):c.840del (p.Gly281fs)
|
|
|
NM_138694.4(PKHD1):c.8453del (p.Asn2818fs)
|
rs1790945437
|
|
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter)
|
rs2128223990
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.8553del (p.Ile2851fs)
|
|
|
NM_138694.4(PKHD1):c.8555-2A>G
|
rs1020621286
|
|
NM_138694.4(PKHD1):c.8562T>G (p.Tyr2854Ter)
|
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.8604_8605del (p.Trp2868fs)
|
|
|
NM_138694.4(PKHD1):c.865C>T (p.Gln289Ter)
|
rs2128223979
|
|
NM_138694.4(PKHD1):c.8668del (p.Trp2890fs)
|
rs2151021274
|
|
NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
|
rs1554221465
|
|
NM_138694.4(PKHD1):c.8731del (p.Leu2911fs)
|
rs2151020773
|
|
NM_138694.4(PKHD1):c.8782A>T (p.Lys2928Ter)
|
rs2151020303
|
|
NM_138694.4(PKHD1):c.8798-2A>T
|
rs1582470309
|
|
NM_138694.4(PKHD1):c.880+1G>A
|
rs1582064292
|
|
NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs)
|
rs2151011995
|
|
NM_138694.4(PKHD1):c.8837del (p.Leu2946fs)
|
|
|
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)
|
rs1229564017
|
|
NM_138694.4(PKHD1):c.8870_8874del (p.Ile2957fs)
|
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs)
|
rs1473686155
|
|
NM_138694.4(PKHD1):c.8912del (p.Val2971fs)
|
rs2151011017
|
|
NM_138694.4(PKHD1):c.8916dup (p.Ser2973fs)
|
|
|
NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter)
|
rs2150987482
|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
|
rs1582053820
|
|
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
|
rs775628123
|
|
NM_138694.4(PKHD1):c.9038_9039delinsAA (p.Ser3013Ter)
|
|
|
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe)
|
rs137852945
|
|
NM_138694.4(PKHD1):c.9070dup (p.Cys3024fs)
|
rs2150986957
|
|
NM_138694.4(PKHD1):c.9081_9082dup (p.Ile3028fs)
|
|
|
NM_138694.4(PKHD1):c.9149del (p.Gly3050fs)
|
rs2150986366
|
|
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs)
|
rs1582441668
|
|
NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG (p.Asn3062fs)
|
rs2150986043
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
NM_138694.4(PKHD1):c.9210_9223del (p.Gln3070fs)
|
rs2150985744
|
|
NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter)
|
rs761075492
|
|
NM_138694.4(PKHD1):c.9302_9303del (p.Arg3101fs)
|
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9329dup (p.Cys3111fs)
|
|
|
NM_138694.4(PKHD1):c.9348del (p.Leu3117fs)
|
rs1785501068
|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
|
|
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)
|
rs373241537
|
|
NM_138694.4(PKHD1):c.9386del (p.Gly3129fs)
|
rs1785493309
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter)
|
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter)
|
rs2150982651
|
|
NM_138694.4(PKHD1):c.9615del (p.Ile3205fs)
|
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9699del (p.Ser3234fs)
|
rs1785437689
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs)
|
rs1582436832
|
|
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)
|
rs1562221540
|
|
NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter)
|
|
|
NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter)
|
|
|
NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)
|
|
|
NM_138694.4(PKHD1):c.9845del (p.Ser3282fs)
|
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
|
|
|
NM_138694.4(PKHD1):c.9945del (p.Met3316fs)
|
|
|
NM_138694.4(PKHD1):c.9956_9957del (p.Ile3319fs)
|
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
Single allele
|
|
|