NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
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_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
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_001009944.3(PKD1):c.4709C>T (p.Thr1570Met)
|
rs368161263
|
0.00004
|
NM_001009944.3(PKD1):c.7065+9C>T
|
rs765688834
|
0.00004
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
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_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter)
|
rs764447736
|
0.00003
|
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)
|
rs1567200098
|
0.00003
|
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_173543.3(DZIP1L):c.269C>T (p.Ala90Val)
|
rs555349004
|
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.390+1G>T
|
rs752327566
|
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_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.1094+1G>A
|
rs58606740
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)
|
rs1057518906
|
0.00001
|
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)
|
rs1355372474
|
0.00001
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)
|
rs121918040
|
0.00001
|
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)
|
rs1276594505
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)
|
rs1302726543
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter)
|
rs774453006
|
0.00001
|
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter)
|
rs1183899324
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter)
|
rs941713150
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
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.11398+2T>C
|
rs754038777
|
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.707+1G>A
|
rs748365248
|
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.8554+1G>A
|
rs1790925351
|
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.9464A>G (p.Tyr3155Cys)
|
rs957419550
|
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 16p13.3(chr16:2089477-2135939)
|
|
|
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
|
|
|
GRCh37/hg19 16p13.3(chr16:2092335-2112105)
|
|
|
GRCh37/hg19 16p13.3(chr16:2112698-2118833)
|
|
|
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
|
|
|
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
|
|
|
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
|
|
|
GRCh37/hg19 16p13.3(chr16:2162341-2203046)
|
|
|
GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)
|
|
|
NC_000001.10:g.(155160963_155162030)insC
|
|
|
NC_000003.12:g.10133799_10141895del
|
|
|
NC_000004.11:g.(?_88896421)_(88979275_?)del
|
|
|
NC_000004.11:g.88957372-?_89042944+?dup
|
|
|
NC_000004.12:g.(?_88007714)_(88058123_?)del
|
|
|
NC_000004.12:g.(?_88007714)_(88075714_?)del
|
|
|
NC_000004.12:g.(?_88038231)_(88075714_?)del
|
|
|
NC_000004.12:g.(?_88928831)_(88996847_?)del
|
|
|
NC_000006.11:g.(?_51483869)_(51949741_?)del
|
|
|
NC_000006.11:g.(?_51483879)_(51949731_?)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.(?_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)_(51752053_?)del
|
|
|
NC_000006.11:g.(?_51924716)_(51924850_?)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
|
|
|
NC_000011.10:g.62628412_62655064del
|
|
|
NC_000016.10:g.2090809del
|
rs2091475541
|
|
NC_000016.10:g.2092048_2092049dup
|
rs1596482597
|
|
NC_000016.10:g.2132490_2138215del
|
|
|
NM_000092.5(COL4A4):c.2383G>A (p.Gly795Arg)
|
rs779584531
|
|
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)
|
rs2110107236
|
|
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
|
|
|
NM_000297.4(PKD2):c.1047dup (p.Val350fs)
|
rs1578130597
|
|
NM_000297.4(PKD2):c.1088del (p.Gly363fs)
|
rs1553925467
|
|
NM_000297.4(PKD2):c.1094+1G>C
|
rs58606740
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1095-2A>T
|
|
|
NM_000297.4(PKD2):c.110del (p.Gly37fs)
|
rs2110080128
|
|
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)
|
rs121918039
|
|
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs)
|
rs2110112083
|
|
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter)
|
rs924484889
|
|
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs)
|
rs1727648258
|
|
NM_000297.4(PKD2):c.1197del (p.Glu400fs)
|
rs2110112181
|
|
NM_000297.4(PKD2):c.1205del (p.Thr402fs)
|
rs2110112194
|
|
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter)
|
rs121918041
|
|
NM_000297.4(PKD2):c.1320-2del
|
rs1578135823
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1322dup (p.Leu441fs)
|
rs1727782355
|
|
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)
|
rs1391596181
|
|
NM_000297.4(PKD2):c.1325del (p.Leu442fs)
|
rs1578135829
|
|
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)
|
rs1578135842
|
|
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)
|
rs1578135870
|
|
NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter)
|
rs2110115819
|
|
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)
|
rs121918042
|
|
NM_000297.4(PKD2):c.1445del (p.Phe482fs)
|
rs1578135940
|
|
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter)
|
rs1135401753
|
|
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter)
|
rs1727790591
|
|
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
|
|
|
NM_000297.4(PKD2):c.152del (p.Gly51fs)
|
rs1726229033
|
|
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val)
|
rs121918043
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.1551del (p.Ser518fs)
|
rs776718970
|
|
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs)
|
rs1553926509
|
|
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)
|
rs1720124087
|
|
NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter)
|
rs1720126853
|
|
NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter)
|
rs1720127024
|
|
NM_000297.4(PKD2):c.1668dup (p.Gln557fs)
|
rs1578139269
|
|
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter)
|
rs1273223177
|
|
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
|
|
|
NM_000297.4(PKD2):c.1704dup (p.Val569fs)
|
rs1720128947
|
|
NM_000297.4(PKD2):c.1716+2T>A
|
rs1720129561
|
|
NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs)
|
rs1560620277
|
|
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)
|
rs1553926905
|
|
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
|
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.1857del (p.Phe619fs)
|
rs1720325511
|
|
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
|
|
|
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs)
|
rs1720325828
|
|
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
|
|
|
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs)
|
rs1560621750
|
|
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)
|
rs1726231891
|
|
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs)
|
rs2110129645
|
|
NM_000297.4(PKD2):c.1985del (p.Thr662fs)
|
rs2110129653
|
|
NM_000297.4(PKD2):c.1986del (p.Thr663fs)
|
rs1720430411
|
|
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs)
|
rs1720431219
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2019+1_2019+5del
|
rs1578142941
|
|
NM_000297.4(PKD2):c.2020-1_2020del
|
rs1553927436
|
|
NM_000297.4(PKD2):c.203dup (p.Ala69fs)
|
rs1187336837
|
|
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
|
|
|
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter)
|
rs1578144873
|
|
NM_000297.4(PKD2):c.2052C>A (p.Tyr684Ter)
|
rs2110133998
|
|
NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)
|
|
|
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs)
|
rs1578144898
|
|
NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)
|
|
|
NM_000297.4(PKD2):c.2118+1G>C
|
rs1720594399
|
|
NM_000297.4(PKD2):c.2119-2A>G
|
rs1720752309
|
|
NM_000297.4(PKD2):c.2125del (p.His709fs)
|
rs2110137964
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter)
|
rs770308463
|
|
NM_000297.4(PKD2):c.2240+1G>A
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2240+1G>C
|
rs1553927783
|
|
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter)
|
rs1578147448
|
|
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)
|
rs1553927823
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2358+1G>A
|
|
|
NM_000297.4(PKD2):c.2378_2384del (p.His793fs)
|
rs1720855394
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2503dup (p.Ser835fs)
|
rs1560628245
|
|
NM_000297.4(PKD2):c.2508C>A (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2517del (p.Gln840fs)
|
rs2110141387
|
|
NM_000297.4(PKD2):c.2522+1_2522+2del
|
rs1720863460
|
|
NM_000297.4(PKD2):c.2524del (p.Leu842fs)
|
rs1553928730
|
|
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)
|
rs1560632930
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.2814del (p.Gln938fs)
|
|
|
NM_000297.4(PKD2):c.282del (p.Phe94fs)
|
|
|
NM_000297.4(PKD2):c.2844del (p.Ser949fs)
|
rs1721205608
|
|
NM_000297.4(PKD2):c.306_307insAGG (p.Glu102_Val103insArg)
|
rs398122932
|
|
NM_000297.4(PKD2):c.316del (p.Glu106fs)
|
|
|
NM_000297.4(PKD2):c.339_358dup (p.Pro120delinsArgTrpThrTer)
|
|
|
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)
|
rs1057518797
|
|
NM_000297.4(PKD2):c.405del (p.Ala136fs)
|
rs1726245372
|
|
NM_000297.4(PKD2):c.423dup (p.Gly142fs)
|
rs1726246959
|
|
NM_000297.4(PKD2):c.443del (p.Gly148fs)
|
rs1560592253
|
|
NM_000297.4(PKD2):c.443dup (p.His149fs)
|
|
|
NM_000297.4(PKD2):c.473del (p.Glu158fs)
|
rs1578111620
|
|
NM_000297.4(PKD2):c.514del (p.Asp172fs)
|
rs1232369409
|
|
NM_000297.4(PKD2):c.538dup (p.Leu180fs)
|
rs1371793191
|
|
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)
|
rs1726258048
|
|
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter)
|
rs1163840810
|
|
NM_000297.4(PKD2):c.595+1G>A
|
rs1578111778
|
|
NM_000297.4(PKD2):c.595+1G>C
|
rs1578111778
|
|
NM_000297.4(PKD2):c.595+2T>C
|
rs1018717398
|
|
NM_000297.4(PKD2):c.596-12_599del
|
|
|
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)
|
rs1726673986
|
|
NM_000297.4(PKD2):c.605del (p.Gly202fs)
|
rs2110089194
|
|
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)
|
rs2110089248
|
|
NM_000297.4(PKD2):c.642_643dup (p.Lys215fs)
|
rs1726676402
|
|
NM_000297.4(PKD2):c.654_655del (p.Ser219fs)
|
rs1578118330
|
|
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
|
|
|
NM_000297.4(PKD2):c.662del (p.Leu221fs)
|
rs1726677278
|
|
NM_000297.4(PKD2):c.670del (p.Leu224fs)
|
rs1553924173
|
|
NM_000297.4(PKD2):c.693dup (p.Ile232fs)
|
rs1560598042
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000297.4(PKD2):c.710-1G>A
|
rs2110104725
|
|
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter)
|
rs780351760
|
|
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)
|
rs1578129049
|
|
NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter)
|
rs1727326556
|
|
NM_000297.4(PKD2):c.753del (p.Arg251_Met252insTer)
|
rs2110104830
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000297.4(PKD2):c.816del (p.Leu273fs)
|
|
|
NM_000297.4(PKD2):c.817_818del (p.Leu273fs)
|
rs1057518969
|
|
NM_000297.4(PKD2):c.843+1G>A
|
rs1727333593
|
|
NM_000297.4(PKD2):c.844-2A>G
|
rs1727412388
|
|
NM_000297.4(PKD2):c.848_849dup (p.Glu284fs)
|
rs1727412539
|
|
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)
|
rs1727413505
|
|
NM_000297.4(PKD2):c.860_861insG (p.Leu288fs)
|
rs1727413597
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000297.4(PKD2):c.952dup (p.Val318fs)
|
rs2110107069
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
|
rs1727420867
|
|
NM_000297.4(PKD2):c.986del (p.Gly329fs)
|
rs1553925459
|
|
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs)
|
rs1560608729
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_001009944.2(PKD1):c.8017_8024delGGGCCCAG
|
|
|
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
|
|
|
NM_001009944.3(PKD1):c.10031del (p.Phe3344fs)
|
rs2092006545
|
|
NM_001009944.3(PKD1):c.1004_1019del (p.Ala335fs)
|
rs2092667308
|
|
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter)
|
rs1567166045
|
|
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter)
|
rs2151729320
|
|
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs)
|
rs1567165997
|
|
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
|
|
|
NM_001009944.3(PKD1):c.10163del (p.Ala3388fs)
|
rs1596503384
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter)
|
rs2151728536
|
|
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
|
|
|
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs)
|
rs2151728391
|
|
NM_001009944.3(PKD1):c.10220+2_10220+3del
|
rs1114167366
|
|
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter)
|
rs2151727019
|
|
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs)
|
rs2151726918
|
|
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)
|
rs2151726823
|
|
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs)
|
rs2091891993
|
|
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)
|
|
|
NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs)
|
|
|
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter)
|
rs780009030
|
|
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs)
|
rs2151726623
|
|
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)
|
rs1064794206
|
|
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs)
|
rs2151725680
|
|
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
|
rs1385274120
|
|
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs)
|
rs2091883381
|
|
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs)
|
rs1555448106
|
|
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)
|
rs2151710519
|
|
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)
|
rs1378307448
|
|
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs)
|
rs2151710347
|
|
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs)
|
rs2151710316
|
|
NM_001009944.3(PKD1):c.10560dup (p.Pro3521fs)
|
rs1555447196
|
|
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)
|
rs1057516041
|
|
NM_001009944.3(PKD1):c.10659del (p.Trp3553fs)
|
rs1555447057
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter)
|
rs1361283193
|
|
NM_001009944.3(PKD1):c.10725G>A (p.Trp3575Ter)
|
rs1177764199
|
|
NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs)
|
rs2151708812
|
|
NM_001009944.3(PKD1):c.10733del (p.Ala3578fs)
|
rs2091725538
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs)
|
rs2151708652
|
|
NM_001009944.3(PKD1):c.1078_1088del (p.Glu360fs)
|
rs1555459001
|
|
NM_001009944.3(PKD1):c.10822-1G>C
|
rs2091715597
|
|
NM_001009944.3(PKD1):c.10822-30_10852del
|
|
|
NM_001009944.3(PKD1):c.108del (p.Cys37fs)
|
rs2092941062
|
|
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)
|
rs2091705970
|
|
NM_001009944.3(PKD1):c.109del (p.Cys37fs)
|
rs2151858299
|
|
NM_001009944.3(PKD1):c.11016+1G>A
|
rs2151707040
|
|
NM_001009944.3(PKD1):c.11033del (p.Met3678fs)
|
rs1555446637
|
|
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs)
|
rs2091670117
|
|
NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs)
|
rs2151704327
|
|
NM_001009944.3(PKD1):c.11119C>T (p.Gln3707Ter)
|
rs2091668243
|
|
NM_001009944.3(PKD1):c.11137dup (p.Ala3713fs)
|
rs1555446582
|
|
NM_001009944.3(PKD1):c.11156+1G>C
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156+1G>T
|
rs1596485727
|
|
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln)
|
rs1555446576
|
|
NM_001009944.3(PKD1):c.11157-1G>A
|
rs2091646317
|
|
NM_001009944.3(PKD1):c.11178G>A (p.Trp3726Ter)
|
rs2091645594
|
|
NM_001009944.3(PKD1):c.111C>A (p.Cys37Ter)
|
rs2092941027
|
|
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs)
|
rs1567155179
|
|
NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter)
|
rs1567155145
|
|
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)
|
rs1327414405
|
|
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)
|
rs1567154953
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001009944.3(PKD1):c.11270-1G>A
|
rs2151700092
|
|
NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter)
|
rs369825780
|
|
NM_001009944.3(PKD1):c.11311_11312dup (p.Ala3772fs)
|
rs2091620763
|
|
NM_001009944.3(PKD1):c.11313_11314insCCCG (p.Ala3772fs)
|
rs2091620545
|
|
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs)
|
rs1555446033
|
|
NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs)
|
|
|
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)
|
rs1555445999
|
|
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)
|
rs2091619053
|
|
NM_001009944.3(PKD1):c.11344_11366dup (p.His3789fs)
|
|
|
NM_001009944.3(PKD1):c.1136dup (p.Asn379fs)
|
rs2092665918
|
|
NM_001009944.3(PKD1):c.11377_11395dup (p.Ala3799fs)
|
rs2091614437
|
|
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)
|
rs1567153758
|
|
NM_001009944.3(PKD1):c.11388del (p.Tyr3797fs)
|
rs2091615030
|
|
NM_001009944.3(PKD1):c.11411+1G>C
|
rs2091612821
|
|
NM_001009944.3(PKD1):c.11412-2A>C
|
rs1555445771
|
|
NM_001009944.3(PKD1):c.11412-7_11468del
|
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11423G>A (p.Trp3808Ter)
|
|
|
NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs)
|
rs2091601824
|
|
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs)
|
rs2091600536
|
|
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)
|
rs199476098
|
|
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter)
|
rs199476098
|
|
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)
|
rs1325300747
|
|
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs)
|
|
|
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter)
|
rs1286585831
|
|
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)
|
rs199476096
|
|
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)
|
rs1057518959
|
|
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter)
|
rs1596481464
|
|
NM_001009944.3(PKD1):c.11538-2A>C
|
|
|
NM_001009944.3(PKD1):c.11552del (p.Phe3851fs)
|
rs2091580617
|
|
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs)
|
rs724159823
|
|
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter)
|
rs2091580237
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs)
|
rs2151695526
|
|
NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs)
|
rs2091576236
|
|
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs)
|
|
|
NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs)
|
rs1596480112
|
|
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs)
|
rs2151695024
|
|
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter)
|
rs2091572700
|
|
NM_001009944.3(PKD1):c.11712+1G>C
|
rs2091571329
|
|
NM_001009944.3(PKD1):c.11712+2T>C
|
rs2091571271
|
|
NM_001009944.3(PKD1):c.11713-1G>A
|
rs867092741
|
|
NM_001009944.3(PKD1):c.1171dup (p.Ile391fs)
|
rs2092665584
|
|
NM_001009944.3(PKD1):c.11722dup (p.Leu3908fs)
|
|
|
NM_001009944.3(PKD1):c.11723T>C (p.Leu3908Pro)
|
rs2151688569
|
|
NM_001009944.3(PKD1):c.11725_11740del (p.Leu3909fs)
|
rs2091500917
|
|
NM_001009944.3(PKD1):c.11752G>T (p.Glu3918Ter)
|
rs1555445229
|
|
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter)
|
rs2091498706
|
|
NM_001009944.3(PKD1):c.11784G>A (p.Trp3928Ter)
|
rs759035704
|
|
NM_001009944.3(PKD1):c.11798_11810del (p.Leu3933fs)
|
rs1555445192
|
|
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs)
|
|
|
NM_001009944.3(PKD1):c.11853dup (p.Arg3952fs)
|
rs2091493781
|
|
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)
|
rs2091493090
|
|
NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs)
|
|
|
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter)
|
rs1596476503
|
|
NM_001009944.3(PKD1):c.11889G>A (p.Trp3963Ter)
|
rs2091491322
|
|
NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs)
|
rs886040959
|
|
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
|
|
|
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter)
|
rs1161012209
|
|
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs)
|
rs2091483332
|
|
NM_001009944.3(PKD1):c.1199del (p.Arg400fs)
|
rs2092665134
|
|
NM_001009944.3(PKD1):c.12004-2A>G
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12004-7_12012dup
|
rs1596475487
|
|
NM_001009944.3(PKD1):c.12007del (p.Ala4003fs)
|
rs2091475296
|
|
NM_001009944.3(PKD1):c.1201+1G>A
|
rs1596588978
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
|
|
|
NM_001009944.3(PKD1):c.1202-1G>A
|
rs2151822688
|
|
NM_001009944.3(PKD1):c.1202-2A>G
|
rs2092662592
|
|
NM_001009944.3(PKD1):c.1202-2A>T
|
rs2092662592
|
|
NM_001009944.3(PKD1):c.1202-9G>A
|
rs1596588606
|
|
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter)
|
rs1555444985
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter)
|
rs1218054241
|
|
NM_001009944.3(PKD1):c.12039_12040insAC (p.Val4014fs)
|
rs2091472604
|
|
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
|
|
|
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)
|
rs199476094
|
|
NM_001009944.3(PKD1):c.12138+1G>C
|
rs2151684070
|
|
NM_001009944.3(PKD1):c.12139-2A>C
|
rs2091453268
|
|
NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs)
|
|
|
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter)
|
rs2151682538
|
|
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter)
|
rs2091450305
|
|
NM_001009944.3(PKD1):c.12217_12221del (p.Thr4073fs)
|
rs1567146946
|
|
NM_001009944.3(PKD1):c.12232del (p.Glu4078fs)
|
rs2091446343
|
|
NM_001009944.3(PKD1):c.12261T>A (p.Cys4087Ter)
|
rs199476097
|
|
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs)
|
rs1060499718
|
|
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs)
|
rs2092661595
|
|
NM_001009944.3(PKD1):c.12334_12335insGG (p.Ala4112fs)
|
|
|
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs)
|
rs2091440383
|
|
NM_001009944.3(PKD1):c.12348del (p.Glu4116fs)
|
rs1596473420
|
|
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)
|
rs2091437893
|
|
NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter)
|
|
|
NM_001009944.3(PKD1):c.12381C>G (p.Tyr4127Ter)
|
rs756212622
|
|
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs)
|
rs2151680679
|
|
NM_001009944.3(PKD1):c.123_129del (p.Gly44fs)
|
|
|
NM_001009944.3(PKD1):c.12420G>A (p.Trp4140Ter)
|
rs199476102
|
|
NM_001009944.3(PKD1):c.12444+1G>A
|
rs2091431794
|
|
NM_001009944.3(PKD1):c.12445-2A>C
|
rs1555444334
|
|
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)
|
rs1282668884
|
|
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
|
rs2091413514
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001009944.3(PKD1):c.12490del (p.Arg4164fs)
|
rs1596472276
|
|
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs)
|
rs1555444249
|
|
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)
|
rs1555444225
|
|
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
|
|
|
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs)
|
rs2091400717
|
|
NM_001009944.3(PKD1):c.12605del (p.Gly4202fs)
|
|
|
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
|
|
|
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs)
|
rs2151676915
|
|
NM_001009944.3(PKD1):c.12658G>T (p.Glu4220Ter)
|
rs2091397048
|
|
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.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)
|
rs2091391674
|
|
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs)
|
rs2151675632
|
|
NM_001009944.3(PKD1):c.1303C>T (p.Gln435Ter)
|
rs2092660457
|
|
NM_001009944.3(PKD1):c.1309C>T (p.Gln437Ter)
|
rs2151822408
|
|
NM_001009944.3(PKD1):c.1326del (p.Ala443fs)
|
rs2151822381
|
|
NM_001009944.3(PKD1):c.1347_1356delinsAC (p.Ser449fs)
|
rs1567216323
|
|
NM_001009944.3(PKD1):c.1353dup (p.Val452fs)
|
rs2151822325
|
|
NM_001009944.3(PKD1):c.1385+1G>T
|
|
|
NM_001009944.3(PKD1):c.1391del (p.Leu464fs)
|
rs2092649198
|
|
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
|
|
|
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs)
|
rs2151820943
|
|
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter)
|
|
|
NM_001009944.3(PKD1):c.1491del (p.Glu499fs)
|
|
|
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs)
|
rs2092648005
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter)
|
rs2151820663
|
|
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)
|
rs750798165
|
|
NM_001009944.3(PKD1):c.1584C>A (p.Tyr528Ter)
|
rs1401015526
|
|
NM_001009944.3(PKD1):c.1606+1G>A
|
rs2151820539
|
|
NM_001009944.3(PKD1):c.1606+5G>A
|
rs2092646077
|
|
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs)
|
rs3072277
|
|
NM_001009944.3(PKD1):c.1654del (p.Asp552fs)
|
rs2151819777
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
|
|
|
NM_001009944.3(PKD1):c.1669dup (p.Leu557fs)
|
rs2092640687
|
|
NM_001009944.3(PKD1):c.1700C>G (p.Ser567Ter)
|
rs765817015
|
|
NM_001009944.3(PKD1):c.1723-1G>A
|
rs1596582948
|
|
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs)
|
rs2092939869
|
|
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter)
|
rs2092629130
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.1849+1G>T
|
rs2092628618
|
|
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter)
|
rs1348307652
|
|
NM_001009944.3(PKD1):c.191G>C (p.Arg64Pro)
|
|
|
NM_001009944.3(PKD1):c.1931del (p.Gly644fs)
|
rs1596580483
|
|
NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs)
|
rs2092939979
|
|
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
|
|
|
NM_001009944.3(PKD1):c.2032del (p.Ala678fs)
|
rs2092615974
|
|
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter)
|
rs1174034883
|
|
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs)
|
rs2151816205
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2085del (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2089C>T (p.Gln697Ter)
|
rs2151816083
|
|
NM_001009944.3(PKD1):c.2097+2T>C
|
rs2092614697
|
|
NM_001009944.3(PKD1):c.2101_2102dup (p.Leu702fs)
|
rs2092604612
|
|
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)
|
rs2092604224
|
|
NM_001009944.3(PKD1):c.215+2_215+3del
|
rs2092939625
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)
|
rs747483368
|
|
NM_001009944.3(PKD1):c.2250G>A (p.Trp750Ter)
|
rs2092601367
|
|
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs)
|
rs2092600549
|
|
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.2494dup (p.Arg832fs)
|
rs1567210630
|
|
NM_001009944.3(PKD1):c.2528C>G (p.Ser843Ter)
|
rs2092596212
|
|
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.2542C>T (p.Gln848Ter)
|
rs2092595963
|
|
NM_001009944.3(PKD1):c.2545G>A (p.Val849Met)
|
|
|
NM_001009944.3(PKD1):c.2605del (p.Arg869fs)
|
rs2092594790
|
|
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs)
|
rs1555457807
|
|
NM_001009944.3(PKD1):c.2659del (p.Trp887fs)
|
rs2092593850
|
|
NM_001009944.3(PKD1):c.2660G>A (p.Trp887Ter)
|
rs769587438
|
|
NM_001009944.3(PKD1):c.2674del (p.Thr892fs)
|
|
|
NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)
|
rs1567210080
|
|
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer)
|
rs2151813077
|
|
NM_001009944.3(PKD1):c.2688_2698del (p.Leu899fs)
|
|
|
NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter)
|
rs2092592999
|
|
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter)
|
rs1339097856
|
|
NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs)
|
rs2092590647
|
|
NM_001009944.3(PKD1):c.2784_2796del (p.Glu929fs)
|
|
|
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs)
|
rs1596574774
|
|
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter)
|
rs763199691
|
|
NM_001009944.3(PKD1):c.2853+1G>A
|
rs2151812559
|
|
NM_001009944.3(PKD1):c.288-2A>G
|
rs2092684358
|
|
NM_001009944.3(PKD1):c.290del (p.Asp97fs)
|
rs2092684328
|
|
NM_001009944.3(PKD1):c.2914A>T (p.Lys972Ter)
|
rs2092566273
|
|
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter)
|
rs1555457446
|
|
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs)
|
|
|
NM_001009944.3(PKD1):c.2962_2985+1del
|
|
|
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
|
|
|
NM_001009944.3(PKD1):c.2986-1G>A
|
rs2092557654
|
|
NM_001009944.3(PKD1):c.302del (p.Asn101fs)
|
rs2151826161
|
|
NM_001009944.3(PKD1):c.304A>T (p.Lys102Ter)
|
rs2092684104
|
|
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter)
|
rs753261451
|
|
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter)
|
rs2092555939
|
|
NM_001009944.3(PKD1):c.3071delinsCCC (p.Val1024fs)
|
rs1567206904
|
|
NM_001009944.3(PKD1):c.3161+1G>C
|
|
|
NM_001009944.3(PKD1):c.3162-1G>A
|
|
|
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter)
|
rs1231492796
|
|
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)
|
rs2092538738
|
|
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs)
|
rs2092538008
|
|
NM_001009944.3(PKD1):c.322G>T (p.Glu108Ter)
|
rs1416011785
|
|
NM_001009944.3(PKD1):c.3250C>T (p.Gln1084Ter)
|
rs1373028227
|
|
NM_001009944.3(PKD1):c.3295+1G>T
|
rs2092536130
|
|
NM_001009944.3(PKD1):c.3295+2T>G
|
rs2092536098
|
|
NM_001009944.3(PKD1):c.3296-1G>A
|
rs1567204631
|
|
NM_001009944.3(PKD1):c.330del (p.Phe111fs)
|
rs2151826084
|
|
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter)
|
rs1596563657
|
|
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter)
|
rs755084885
|
|
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
|
|
|
NM_001009944.3(PKD1):c.3441C>A (p.Tyr1147Ter)
|
|
|
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter)
|
rs1205064584
|
|
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)
|
rs2092683596
|
|
NM_001009944.3(PKD1):c.3503dup (p.Val1169fs)
|
rs1555456661
|
|
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)
|
rs1057518899
|
|
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter)
|
rs1057516206
|
|
NM_001009944.3(PKD1):c.3572_3573insA (p.Glu1192fs)
|
rs2092507274
|
|
NM_001009944.3(PKD1):c.359+2T>G
|
rs2092683440
|
|
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs)
|
rs2151800732
|
|
NM_001009944.3(PKD1):c.3601del (p.Ala1201fs)
|
rs2092506499
|
|
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter)
|
rs2092506242
|
|
NM_001009944.3(PKD1):c.3684del (p.Val1229fs)
|
rs2092503653
|
|
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter)
|
rs2092501974
|
|
NM_001009944.3(PKD1):c.3729G>A (p.Trp1243Ter)
|
rs2092501936
|
|
NM_001009944.3(PKD1):c.3792C>A (p.Tyr1264Ter)
|
rs145263744
|
|
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
|
|
|
NM_001009944.3(PKD1):c.3850del (p.Ala1284fs)
|
rs1567202350
|
|
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)
|
rs780119305
|
|
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs)
|
rs2151799399
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs)
|
rs2092491511
|
|
NM_001009944.3(PKD1):c.404G>A (p.Trp135Ter)
|
rs1567219111
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
|
|
|
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
|
rs1596591955
|
|
NM_001009944.3(PKD1):c.4168C>T (p.Gln1390Ter)
|
rs2092487764
|
|
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)
|
rs1567201083
|
|
NM_001009944.3(PKD1):c.4197G>A (p.Trp1399Ter)
|
rs890465248
|
|
NM_001009944.3(PKD1):c.4214G>A (p.Trp1405Ter)
|
rs2151798372
|
|
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs)
|
rs754820795
|
|
NM_001009944.3(PKD1):c.4222_4232dup (p.Tyr1412fs)
|
rs2092485909
|
|
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs)
|
rs34495017
|
|
NM_001009944.3(PKD1):c.4276_4277delinsA (p.Ala1426fs)
|
rs2092484442
|
|
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu)
|
|
|
NM_001009944.3(PKD1):c.439dup (p.Val147fs)
|
rs2092679105
|
|
NM_001009944.3(PKD1):c.4419del (p.Asn1474fs)
|
rs2151797547
|
|
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)
|
rs1567200117
|
|
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs)
|
rs2092479999
|
|
NM_001009944.3(PKD1):c.445del (p.Gln149fs)
|
rs796052133
|
|
NM_001009944.3(PKD1):c.4461del (p.Ser1488fs)
|
rs1555455998
|
|
NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs)
|
rs2092478837
|
|
NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter)
|
rs2092477162
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter)
|
rs2151796950
|
|
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
|
|
|
NM_001009944.3(PKD1):c.4654del (p.Val1552fs)
|
rs2047525622
|
|
NM_001009944.3(PKD1):c.4709del (p.Thr1570fs)
|
rs1555455797
|
|
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs)
|
rs2151796475
|
|
NM_001009944.3(PKD1):c.4782del (p.Pro1595fs)
|
rs2092471431
|
|
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
|
|
|
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter)
|
rs202110519
|
|
NM_001009944.3(PKD1):c.4832_4836dup (p.Ala1613fs)
|
rs1596557533
|
|
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)
|
rs1264176877
|
|
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
|
|
|
NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs)
|
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
|
|
|
NM_001009944.3(PKD1):c.491del (p.Gln164fs)
|
rs2151825169
|
|
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter)
|
rs752948922
|
|
NM_001009944.3(PKD1):c.4995del (p.Trp1666fs)
|
rs2151795458
|
|
NM_001009944.3(PKD1):c.499del (p.Gly168fs)
|
rs2151825150
|
|
NM_001009944.3(PKD1):c.5021del (p.Pro1674fs)
|
rs1555455453
|
|
NM_001009944.3(PKD1):c.5047_5051del (p.Phe1683fs)
|
rs2092460746
|
|
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)
|
rs534630703
|
|
NM_001009944.3(PKD1):c.5080del (p.His1694fs)
|
rs2092460002
|
|
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)
|
rs1057518783
|
|
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs)
|
rs1596556375
|
|
NM_001009944.3(PKD1):c.5142del (p.Phe1714fs)
|
rs2092458566
|
|
NM_001009944.3(PKD1):c.5155G>C (p.Gly1719Arg)
|
|
|
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter)
|
rs2092456617
|
|
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter)
|
rs753749502
|
|
NM_001009944.3(PKD1):c.5301del (p.Thr1768fs)
|
rs2092454886
|
|
NM_001009944.3(PKD1):c.5364del (p.Ser1789fs)
|
|
|
NM_001009944.3(PKD1):c.5366C>G (p.Ser1789Ter)
|
rs1377414968
|
|
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter)
|
rs2092452489
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
|
|
|
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs)
|
rs1567196314
|
|
NM_001009944.3(PKD1):c.5637C>A (p.Tyr1879Ter)
|
rs2092447380
|
|
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter)
|
rs1304952446
|
|
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)
|
rs2151792059
|
|
NM_001009944.3(PKD1):c.5722C>T (p.Gln1908Ter)
|
rs2151791889
|
|
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)
|
rs199476101
|
|
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs)
|
rs2092444151
|
|
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs)
|
rs2092443264
|
|
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs)
|
rs1555454915
|
|
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter)
|
rs200001471
|
|
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs)
|
rs2151791178
|
|
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)
|
rs1567195059
|
|
NM_001009944.3(PKD1):c.5886_5893del (p.Gln1962fs)
|
rs2092440281
|
|
NM_001009944.3(PKD1):c.5890del (p.Arg1964fs)
|
rs2092440406
|
|
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del)
|
rs1555454847
|
|
NM_001009944.3(PKD1):c.5921del (p.Leu1974fs)
|
rs1596553527
|
|
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)
|
rs2092439541
|
|
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs)
|
rs2151790507
|
|
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs)
|
rs2151790499
|
|
NM_001009944.3(PKD1):c.601dup (p.His201fs)
|
rs2151824362
|
|
NM_001009944.3(PKD1):c.6021C>A (p.Tyr2007Ter)
|
rs147391291
|
|
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)
|
rs1555454739
|
|
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter)
|
rs2151790199
|
|
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)
|
rs755747732
|
|
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
|
|
|
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs)
|
rs2092433875
|
|
NM_001009944.3(PKD1):c.6147_6148del (p.Asn2050fs)
|
rs2092433535
|
|
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs)
|
rs2151789587
|
|
NM_001009944.3(PKD1):c.616C>T (p.Gln206Ter)
|
|
|
NM_001009944.3(PKD1):c.6197_6209del (p.Leu2066fs)
|
rs2092431000
|
|
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)
|
rs1555454604
|
|
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs)
|
rs2151789316
|
|
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter)
|
rs2151788870
|
|
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
|
|
|
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs)
|
rs2151824295
|
|
NM_001009944.3(PKD1):c.6299C>A (p.Ser2100Ter)
|
rs539793378
|
|
NM_001009944.3(PKD1):c.6307C>T (p.Gln2103Ter)
|
rs1555454512
|
|
NM_001009944.3(PKD1):c.6323_6330delinsACTCCTACCT (p.Pro2108fs)
|
rs2092427579
|
|
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)
|
rs762911981
|
|
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg)
|
rs2151788244
|
|
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)
|
rs1555454460
|
|
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter)
|
rs2092425533
|
|
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter)
|
rs2151788037
|
|
NM_001009944.3(PKD1):c.6424del (p.Gln2142fs)
|
rs1060499702
|
|
NM_001009944.3(PKD1):c.6440_6467del (p.Arg2147fs)
|
rs1567192790
|
|
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter)
|
rs2092423837
|
|
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs)
|
rs1334651902
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)
|
rs1485307916
|
|
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter)
|
rs1054011070
|
|
NM_001009944.3(PKD1):c.6549del (p.Glu2184fs)
|
|
|
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter)
|
rs1555454373
|
|
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter)
|
rs755972713
|
|
NM_001009944.3(PKD1):c.6560G>A (p.Trp2187Ter)
|
rs1161210869
|
|
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs)
|
rs1596551138
|
|
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs)
|
rs2092420672
|
|
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs)
|
rs1555454353
|
|
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter)
|
rs1567192286
|
|
NM_001009944.3(PKD1):c.659del (p.Gly220fs)
|
rs2151824233
|
|
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
|
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs)
|
rs2151786400
|
|
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.6747_6750delinsCA (p.Thr2250fs)
|
|
|
NM_001009944.3(PKD1):c.6749_6750del (p.Thr2250fs)
|
|
|
NM_001009944.3(PKD1):c.678G>A (p.Glu226=)
|
rs2092673013
|
|
NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter)
|
rs1312494071
|
|
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter)
|
rs1312494071
|
|
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)
|
rs1567191179
|
|
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
|
|
|
NM_001009944.3(PKD1):c.6813dup (p.Arg2272fs)
|
rs2151785975
|
|
NM_001009944.3(PKD1):c.6846C>A (p.Tyr2282Ter)
|
rs546354639
|
|
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter)
|
rs755591790
|
|
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs)
|
rs2151785622
|
|
NM_001009944.3(PKD1):c.6913_6914del (p.Gln2305fs)
|
rs1555454075
|
|
NM_001009944.3(PKD1):c.6915+1G>A
|
rs2151785467
|
|
NM_001009944.3(PKD1):c.695G>C (p.Cys232Ser)
|
|
|
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter)
|
rs2151783909
|
|
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter)
|
rs2092401442
|
|
NM_001009944.3(PKD1):c.7045G>T (p.Glu2349Ter)
|
|
|
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs)
|
rs1596548114
|
|
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter)
|
rs2092400157
|
|
NM_001009944.3(PKD1):c.7065+1G>A
|
rs2151783532
|
|
NM_001009944.3(PKD1):c.7065+2T>G
|
rs2151783529
|
|
NM_001009944.3(PKD1):c.7066-1G>C
|
|
|
NM_001009944.3(PKD1):c.707del (p.Gln236fs)
|
rs2092672656
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
NM_001009944.3(PKD1):c.7111del (p.Val2371fs)
|
rs1567187420
|
|
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
|
|
|
NM_001009944.3(PKD1):c.711del (p.Ser238fs)
|
rs2092672595
|
|
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter)
|
rs752114168
|
|
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs)
|
rs2092356759
|
|
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs)
|
rs1555453360
|
|
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)
|
rs1567186946
|
|
NM_001009944.3(PKD1):c.7214G>A (p.Trp2405Ter)
|
rs1555453244
|
|
NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs)
|
rs2092345946
|
|
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
|
|
|
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
|
rs2432403
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.7369G>T (p.Glu2457Ter)
|
rs2092341848
|
|
NM_001009944.3(PKD1):c.7421del (p.Gly2474fs)
|
rs1237714286
|
|
NM_001009944.3(PKD1):c.7428C>A (p.Cys2476Ter)
|
rs1453883641
|
|
NM_001009944.3(PKD1):c.7495del (p.His2499fs)
|
rs2092333316
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs)
|
rs2151772170
|
|
NM_001009944.3(PKD1):c.7622del (p.Pro2541fs)
|
rs1555452849
|
|
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)
|
rs28369051
|
|
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter)
|
rs1567184366
|
|
NM_001009944.3(PKD1):c.7749del (p.Leu2584fs)
|
rs2092323231
|
|
NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter)
|
rs2092321430
|
|
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)
|
rs2092321142
|
|
NM_001009944.3(PKD1):c.7818dup (p.His2607fs)
|
rs1555452653
|
|
NM_001009944.3(PKD1):c.7833C>G (p.Tyr2611Ter)
|
rs138871063
|
|
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
|
|
|
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)
|
rs762003393
|
|
NM_001009944.3(PKD1):c.7863+1del
|
rs2092319664
|
|
NM_001009944.3(PKD1):c.7864-1G>T
|
rs2092305301
|
|
NM_001009944.3(PKD1):c.78del (p.Arg28fs)
|
rs2092941432
|
|
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)
|
rs778979740
|
|
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter)
|
rs750913623
|
|
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)
|
rs764840802
|
|
NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs)
|
rs1555452400
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.7951del (p.Val2651fs)
|
rs2151766847
|
|
NM_001009944.3(PKD1):c.7973_7974del (p.Val2658fs)
|
rs2092302256
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)
|
rs1567182193
|
|
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs)
|
rs2151766664
|
|
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter)
|
rs2092301272
|
|
NM_001009944.3(PKD1):c.8017-1G>C
|
rs2092263886
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs)
|
rs2092262890
|
|
NM_001009944.3(PKD1):c.8045C>A (p.Ser2682Ter)
|
rs151308544
|
|
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter)
|
rs377029031
|
|
NM_001009944.3(PKD1):c.8056C>T (p.Gln2686Ter)
|
rs779516086
|
|
NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter)
|
rs1222094213
|
|
NM_001009944.3(PKD1):c.8098G>A (p.Ala2700Thr)
|
|
|
NM_001009944.3(PKD1):c.8116_8125del (p.Thr2706fs)
|
rs2092260381
|
|
NM_001009944.3(PKD1):c.8161+1G>T
|
|
|
NM_001009944.3(PKD1):c.8162-1G>A
|
rs1555451430
|
|
NM_001009944.3(PKD1):c.8162-2A>G
|
rs2092209753
|
|
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
|
|
|
NM_001009944.3(PKD1):c.8234_8235insCGTCACCATC (p.Arg2746fs)
|
rs2092206577
|
|
NM_001009944.3(PKD1):c.8239_8242del (p.Met2747fs)
|
rs1596527579
|
|
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter)
|
rs2092205600
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs)
|
rs2092202856
|
|
NM_001009944.3(PKD1):c.8320del (p.Pro2773_Leu2774insTer)
|
rs2092202749
|
|
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
|
|
|
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs)
|
rs1567178000
|
|
NM_001009944.3(PKD1):c.8388T>G (p.Tyr2796Ter)
|
rs2092200060
|
|
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs)
|
|
|
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter)
|
rs2092196354
|
|
NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs)
|
|
|
NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs)
|
|
|
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs)
|
rs1555451093
|
|
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter)
|
rs1364976535
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs)
|
rs2151754452
|
|
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
|
|
|
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)
|
rs1567176750
|
|
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)
|
rs1555450968
|
|
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)
|
rs2151754069
|
|
NM_001009944.3(PKD1):c.8749del (p.Ala2917fs)
|
rs2092179583
|
|
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)
|
rs1596525695
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001009944.3(PKD1):c.8791+1G>A
|
rs2092177236
|
|
NM_001009944.3(PKD1):c.8791+40_10050+3del
|
|
|
NM_001009944.3(PKD1):c.8804_8805del (p.Leu2934_Ser2935insTer)
|
|
|
NM_001009944.3(PKD1):c.8836del (p.Leu2946fs)
|
rs2092156841
|
|
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
|
|
|
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter)
|
rs750780241
|
|
NM_001009944.3(PKD1):c.8897_8898del (p.Glu2966fs)
|
rs2092154654
|
|
NM_001009944.3(PKD1):c.8900C>G (p.Ser2967Ter)
|
|
|
NM_001009944.3(PKD1):c.8945del (p.Pro2982fs)
|
rs2092151870
|
|
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)
|
rs1555459084
|
|
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)
|
rs1567174997
|
|
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter)
|
rs1596522636
|
|
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs)
|
rs1555450475
|
|
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
|
|
|
NM_001009944.3(PKD1):c.9074_9076delinsA (p.Trp3025_Arg3026delinsTer)
|
rs1555450424
|
|
NM_001009944.3(PKD1):c.9201+1G>A
|
rs2151749304
|
|
NM_001009944.3(PKD1):c.9217dup (p.Val3073fs)
|
|
|
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)
|
rs1567173924
|
|
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)
|
rs1596520985
|
|
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
|
|
|
NM_001009944.3(PKD1):c.9386del (p.Gly3129fs)
|
|
|
NM_001009944.3(PKD1):c.9398-2A>G
|
rs2151742515
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs)
|
rs2092049440
|
|
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)
|
rs1485297878
|
|
NM_001009944.3(PKD1):c.9568+1G>C
|
rs2092046394
|
|
NM_001009944.3(PKD1):c.9569-1G>C
|
rs2151741177
|
|
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)
|
|
|
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter)
|
rs1596514027
|
|
NM_001009944.3(PKD1):c.9585_9591del (p.Trp3195fs)
|
rs2092039663
|
|
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter)
|
rs1474701377
|
|
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs)
|
rs2092035920
|
|
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs)
|
rs2151823406
|
|
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)
|
rs2151740671
|
|
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter)
|
rs2151740638
|
|
NM_001009944.3(PKD1):c.9726_9727insA (p.Leu3243fs)
|
rs2151739862
|
|
NM_001009944.3(PKD1):c.9736del (p.Arg3246fs)
|
rs2092026801
|
|
NM_001009944.3(PKD1):c.9841del (p.Ala3281fs)
|
rs2092021706
|
|
NM_001009944.3(PKD1):c.9867C>A (p.Cys3289Ter)
|
rs1420757773
|
|
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
|
|
|
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter)
|
rs1415277933
|
|
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)
|
rs1567169638
|
|
NM_001009944.3(PKD1):c.99C>A (p.Cys33Ter)
|
rs2092941253
|
|
NM_001009944.3(PKD1):c.[7735_7737del;7972_7979del]
|
|
|
NM_001009944.3(PKD1):c.[9428_9429insCACGA;9432_9433del]
|
|
|
NM_001009944.3:c.(287+1_288-1)_(12003+1_12004-1)del
|
|
|
NM_001037160.3(CYS1):c.318+5G>A
|
rs1201981092
|
|
NM_001371720.2(MUC1):c.3298dup (p.Thr1101Asnfs)
|
rs1667142761
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)
|
rs980305935
|
|
NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter)
|
rs1719950579
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_003361.4(UMOD):c.106C>T (p.His36Tyr)
|
|
|
NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr)
|
rs121917768
|
|
NM_003361.4(UMOD):c.276C>G (p.Cys92Trp)
|
|
|
NM_003361.4(UMOD):c.278T>C (p.Val93Ala)
|
rs2141676565
|
|
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
rs878855325
|
|
NM_003361.4(UMOD):c.280T>G (p.Cys94Gly)
|
rs2141676543
|
|
NM_003361.4(UMOD):c.281G>C (p.Cys94Ser)
|
rs2141676533
|
|
NM_003361.4(UMOD):c.283C>T (p.Pro95Ser)
|
rs2141676523
|
|
NM_003361.4(UMOD):c.286G>T (p.Glu96Ter)
|
rs1357689052
|
|
NM_003361.4(UMOD):c.287_289del (p.Glu96del)
|
rs2141676487
|
|
NM_003361.4(UMOD):c.307G>T (p.Gly103Cys)
|
rs28934584
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
NM_003361.4(UMOD):c.358T>G (p.Cys120Gly)
|
rs1555487621
|
|
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)
|
rs121917769
|
|
NM_003361.4(UMOD):c.383A>G (p.Asn128Ser)
|
rs121917770
|
|
NM_003361.4(UMOD):c.443G>A (p.Cys148Tyr)
|
rs28934582
|
|
NM_003361.4(UMOD):c.444T>G (p.Cys148Trp)
|
rs1965741911
|
|
NM_003361.4(UMOD):c.490G>T (p.Glu164Ter)
|
rs1057515585
|
|
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)
|
rs1555487528
|
|
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)
|
rs1567310155
|
|
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn)
|
rs1965729129
|
|
NM_003361.4(UMOD):c.649T>C (p.Cys217Arg)
|
rs28934583
|
|
NM_003361.4(UMOD):c.649T>G (p.Cys217Gly)
|
rs28934583
|
|
NM_003361.4(UMOD):c.651C>G (p.Cys217Trp)
|
rs1596561934
|
|
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)
|
rs1447458978
|
|
NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)
|
rs398122388
|
|
NM_003361.4(UMOD):c.764G>A (p.Cys255Tyr)
|
rs121917771
|
|
NM_003361.4(UMOD):c.817G>T (p.Val273Phe)
|
rs121917774
|
|
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr)
|
rs1596560944
|
|
NM_003361.4(UMOD):c.898T>G (p.Cys300Gly)
|
rs121917772
|
|
NM_003361.4(UMOD):c.93G>C (p.Trp31Cys)
|
|
|
NM_003361.4(UMOD):c.943T>C (p.Cys315Arg)
|
rs121917773
|
|
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro)
|
rs1555487318
|
|
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)
|
rs1555487316
|
|
NM_013338.5(ALG5):c.623G>A (p.Arg208His)
|
|
|
NM_013338.5(ALG5):c.635G>A (p.Arg212His)
|
|
|
NM_013338.5(ALG5):c.703_704del (p.Gln235fs)
|
|
|
NM_013338.5(ALG5):c.773G>A (p.Trp258Ter)
|
|
|
NM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter)
|
|
|
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)
|
rs1553849919
|
|
NM_016306.6(DNAJB11):c.166_167insTT (p.Arg56fs)
|
rs1553849920
|
|
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)
|
rs1553850185
|
|
NM_016306.6(DNAJB11):c.479del (p.Ala160fs)
|
rs1351138670
|
|
NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)
|
rs2108473228
|
|
NM_020706.2(SCAF4):c.1295_1296del (p.Arg432fs)
|
|
|
NM_024740.2(ALG9):c.1109G>A (p.Arg370Lys)
|
rs782464678
|
|
NM_024740.2(ALG9):c.681G>A (p.Trp227Ter)
|
rs1592341222
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)
|
rs774410421
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_138694.3(PKHD1):c.8108-?_8173+?del
|
|
|
NM_138694.3:c.(?_5909)_(12225_?)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.1057C>T (p.Gln353Ter)
|
|
|
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.10972_10973del (p.Ile3658fs)
|
rs1057517047
|
|
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.11026G>T (p.Gly3676Ter)
|
|
|
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.1284G>A (p.Trp428Ter)
|
|
|
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.1602+1G>A
|
rs398124476
|
|
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)
|
|
|
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)
|
rs1554216499
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
|
|
|
NM_138694.4(PKHD1):c.1693+1G>T
|
rs2128209217
|
|
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.2192C>A (p.Ser731Ter)
|
rs1057516608
|
|
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.2770C>T (p.Gln924Ter)
|
|
|
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.3228+1G>T
|
rs868673401
|
|
NM_138694.4(PKHD1):c.3229-2A>C
|
rs1057516872
|
|
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.3561-1G>A
|
rs1802457333
|
|
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.4021_4022del (p.Gln1341fs)
|
rs1802068057
|
|
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)
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|
|
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
|
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NM_138694.4(PKHD1):c.4328del (p.Cys1443fs)
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|
|
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.4481del (p.Asn1494fs)
|
rs1801988386
|
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NM_138694.4(PKHD1):c.4485del (p.Ser1496fs)
|
rs1325403863
|
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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)
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|
|
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.470dup (p.Trp158fs)
|
rs2128233941
|
|
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.5081dup (p.Val1695fs)
|
rs1057518952
|
|
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
|
|
|
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
|
|
|
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
|
|
|
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.528-2A>G
|
|
|
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.5476del (p.Ala1826fs)
|
|
|
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+1G>A
|
rs775638588
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
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.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
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.602+1G>A
|
rs1554223950
|
|
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.6209G>A (p.Trp2070Ter)
|
|
|
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.6333-2A>G
|
|
|
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.6442G>T (p.Glu2148Ter)
|
rs1782990176
|
|
NM_138694.4(PKHD1):c.6469C>T (p.Gln2157Ter)
|
|
|
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.6809-2A>G
|
rs1340926191
|
|
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.6865+1G>A
|
|
|
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.7060C>T (p.Gln2354Ter)
|
|
|
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.7396G>T (p.Glu2466Ter)
|
|
|
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.7719dup (p.Met2574fs)
|
rs797044745
|
|
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.7912-2A>G
|
rs1554271235
|
|
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.7_19del (p.Ala3fs)
|
|
|
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.8108-1G>C
|
rs2151550125
|
|
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.8302+2T>C
|
rs2151510946
|
|
NM_138694.4(PKHD1):c.8303-1G>A
|
rs786204241
|
|
NM_138694.4(PKHD1):c.831_836del (p.277IT[1])
|
|
|
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.881-1G>A
|
rs1554220431
|
|
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.9455del (p.Asn3152fs)
|
|
|
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.9568C>T (p.Gln3190Ter)
|
|
|
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.9825del (p.Gln3276fs)
|
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
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
|
|
NM_173543.3(DZIP1L):c.1061_1062del (p.Glu354fs)
|
rs1135402756
|
|
NM_173543.3(DZIP1L):c.273G>C (p.Gln91His)
|
rs1135402754
|
|
NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)
|
rs1135402755
|
|
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del)
|
rs750723025
|
|
NM_198334.3(GANAB):c.152_153del (p.Arg51fs)
|
rs752158933
|
|
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)
|
rs879255641
|
|
NM_198334.3(GANAB):c.1936+1del
|
|
|
NM_198334.3(GANAB):c.224C>T (p.Thr75Met)
|
|
|
NM_198334.3(GANAB):c.2516C>T (p.Thr839Ile)
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
Single allele
|
|
|