ClinVar Miner

List of variants reported as likely pathogenic for kidney disorder

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7467
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06255
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_022042.4(SLC26A1):c.1102G>A (p.Gly368Ser) rs3796623 0.02286
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00442
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys) rs119486097 0.00351
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00301
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe) rs146698690 0.00271
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His) rs61893682 0.00255
NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr) rs150980575 0.00249
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00239
NM_024072.4(DDX54):c.856G>A (p.Val286Met) rs148961522 0.00228
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr) rs150681845 0.00191
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00178
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His) rs145623004 0.00133
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00126
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00106
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00101
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00098
NM_014270.5(SLC7A9):c.1403C>T (p.Pro468Leu) rs80283711 0.00089
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00086
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_006576.4(AVIL):c.595C>T (p.Arg199Ter) rs138728046 0.00074
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu) rs199583130 0.00068
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) rs61978626 0.00058
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00054
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_025103.4(IFT74):c.120+2dup rs551515830 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_014994.3(MAPKBP1):c.3304C>T (p.Arg1102Cys) rs141086610 0.00045
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00041
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_006576.4(AVIL):c.404G>A (p.Arg135Gln) rs138047529 0.00034
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_015375.3(DSTYK):c.654+1G>A rs201091809 0.00029
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00025
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00025
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala) rs139661242 0.00025
NM_022042.4(SLC26A1):c.2009C>T (p.Thr670Met) rs200069949 0.00025
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_014270.5(SLC7A9):c.829G>A (p.Val277Met) rs147344717 0.00024
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738 0.00024
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter) rs367810877 0.00024
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter) rs369437168 0.00024
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) rs201367228 0.00021
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg) rs192420947 0.00021
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu) rs140363569 0.00019
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00019
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00019
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00018
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00018
NM_000203.5(IDUA):c.299+3558C>T rs201219683 0.00017
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_004646.4(NPHS1):c.559G>A (p.Val187Met) rs199646884 0.00016
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00016
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter) rs140611214 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) rs201873521 0.00015
NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr) rs185078412 0.00015
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00015
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014669.5(NUP93):c.575A>G (p.Tyr192Cys) rs201924382 0.00013
NM_000341.4(SLC3A1):c.1136+2T>C rs766198611 0.00012
NM_005560.6(LAMA5):c.6859C>T (p.Arg2287Cys) rs527608109 0.00012
NM_006345.4(SLC30A9):c.40del (p.Ser14fs) rs767078182 0.00012
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys) rs121908487 0.00012
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00012
NM_016008.4(DYNC2LI1):c.389T>C (p.Leu130Pro) rs528201408 0.00012
NM_001377.3(DYNC2H1):c.5960C>T (p.Thr1987Met) rs769618486 0.00011
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) rs372148301 0.00011
NM_014804.3(KIAA0753):c.757C>T (p.Arg253Ter) rs774903749 0.00011
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
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_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00010
NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser) rs752881588 0.00010
NM_025129.5(FUZ):c.98_111+9del rs548706733 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_153766.3(KCNJ1):c.875G>A (p.Arg292Gln) rs373198476 0.00010
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu) rs141944551 0.00009
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_001079675.5(ETV4):c.1244G>A (p.Arg415His) rs373515634 0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_003041.4(SLC5A2):c.506del (p.Ala169fs) rs768095044 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_014956.5(CEP164):c.688-2A>C rs370034077 0.00009
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter) rs184745027 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025132.4(WDR19):c.1250-1G>A rs1327583103 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu) rs749738744 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00007
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr) rs104894334 0.00007
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter) rs201794999 0.00007
NM_001126108.2(SLC12A3):c.2521+255G>A rs1037430183 0.00007
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) rs146854174 0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001407.3(CELSR3):c.3100G>C (p.Glu1034Gln) rs201106333 0.00007
NM_001424.6(EMP2):c.78+1G>C rs747072310 0.00007
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504 0.00007
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly) rs61740250 0.00007
NM_020041.3(SLC2A9):c.541G>A (p.Ala181Thr) rs766425306 0.00007
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00007
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp) rs368572297 0.00007
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His) rs541053205 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser) rs745472969 0.00006
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00006
NM_000486.6(AQP2):c.211G>A (p.Val71Met) rs149659001 0.00006
NM_000486.6(AQP2):c.763C>T (p.Gln255Ter) rs370879515 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554 0.00006
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00006
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser) rs376476266 0.00006
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met) rs181509591 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_057176.3(BSND):c.23G>A (p.Arg8Gln) rs74315288 0.00006
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_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp) rs777305169 0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000091.5(COL4A3):c.1992del (p.Gly665fs) rs751677704 0.00005
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu) rs201996712 0.00005
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) rs376000406 0.00005
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys) rs199943712 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00005
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132 0.00005
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00005
NM_002241.5(KCNJ10):c.512G>A (p.Arg171Gln) rs200320916 0.00005
NM_002292.4(LAMB2):c.3797+5G>A rs150213016 0.00005
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter) rs377186926 0.00005
NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) rs1163121743 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00005
NM_005245.4(FAT1):c.857A>G (p.Asn286Ser) rs201488687 0.00005
NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys) rs761504464 0.00005
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp) rs776300442 0.00005
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_020779.4(WDR35):c.2842A>T (p.Lys948Ter) rs749233041 0.00005
NM_022042.4(SLC26A1):c.1018C>T (p.Arg340Cys) rs569131932 0.00005
NM_022098.4(XPNPEP3):c.856-2A>G rs149609214 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00005
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00005
NM_057176.3(BSND):c.22C>T (p.Arg8Trp) rs74315285 0.00005
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu) rs765990518 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_153704.6(TMEM67):c.651+5G>A rs970248353 0.00005
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000085.5(CLCNKB):c.1270G>A (p.Gly424Arg) rs769163950 0.00004
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser) rs146963107 0.00004
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00004
NM_000486.6(AQP2):c.785C>T (p.Pro262Leu) rs104894339 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp) rs201721269 0.00004
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) rs779074538 0.00004
NM_001126108.2(SLC12A3):c.55C>T (p.Arg19Cys) rs374055486 0.00004
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373 0.00004
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter) rs371940321 0.00004
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_001692.4(ATP6V1B1):c.319G>A (p.Glu107Lys) rs370511629 0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp) rs745926869 0.00004
NM_003041.4(SLC5A2):c.1280+1G>A rs554372141 0.00004
NM_003052.5(SLC34A1):c.644+1G>A rs201304511 0.00004
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00004
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_005560.6(LAMA5):c.8488G>A (p.Ala2830Thr) rs202119339 0.00004
NM_005560.6(LAMA5):c.8674C>T (p.Arg2892Cys) rs375523467 0.00004
NM_014055.4(IFT81):c.87G>C (p.Leu29Phe) rs751222088 0.00004
NM_014270.5(SLC7A9):c.511C>T (p.Arg171Trp) rs758242098 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter) rs562932233 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_017827.4(SARS2):c.1347G>A (p.Thr449=) rs200404654 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_020632.3(ATP6V0A4):c.1478+2T>G rs766587351 0.00004
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) rs771232897 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_057176.3(BSND):c.3G>A (p.Met1Ile) rs74315286 0.00004
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met) rs121907893 0.00004
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu) rs760831781 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter) rs201037487 0.00004
NM_182476.3(COQ6):c.349C>T (p.Arg117Ter) rs376848848 0.00004
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00003
NM_000085.5(CLCNKB):c.1316T>C (p.Leu439Pro) rs139909733 0.00003
NM_000085.5(CLCNKB):c.1429G>A (p.Ala477Thr) rs766816427 0.00003
NM_000085.5(CLCNKB):c.968+1G>A rs201204502 0.00003
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu) rs1178734829 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00003
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg) rs899227425 0.00003
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp) rs775698697 0.00003
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg) rs758166864 0.00003
NM_000338.3(SLC12A1):c.1493C>T (p.Ala498Val) rs1366101480 0.00003
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) rs765347751 0.00003
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) rs747229048 0.00003
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro) rs1453871309 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met) rs748496650 0.00003
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) rs759532318 0.00003
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00003
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) rs774753302 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.2522-18G>A rs774278391 0.00003
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His) rs267607051 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001126108.2(SLC12A3):c.689G>A (p.Gly230Asp) rs375990084 0.00003
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00003
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00003
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00003
NM_001375405.1(CEP120):c.1039-2A>T rs774440370 0.00003
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro) rs367600930 0.00003
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612 0.00003
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) rs137853028 0.00003
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 0.00003
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305 0.00003
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_001407.3(CELSR3):c.3142C>T (p.Arg1048Trp) rs560173014 0.00003
NM_001453.3(FOXC1):c.1090C>T (p.Pro364Ser) rs867806300 0.00003
NM_002292.4(LAMB2):c.249+1G>A rs779317615 0.00003
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402 0.00003
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_003052.5(SLC34A1):c.1484G>A (p.Arg495His) rs188409125 0.00003
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) rs201331677 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs) rs752245649 0.00003
NM_006642.5(SDCCAG8):c.220+2T>C rs757796329 0.00003
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr) rs939028046 0.00003
NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr) rs750849536 0.00003
NM_014270.5(SLC7A9):c.376G>A (p.Ala126Thr) rs372306844 0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00003
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter) rs370840009 0.00003
NM_014956.5(CEP164):c.1669dup (p.Glu557fs) rs749114363 0.00003
NM_014967.5(FAN1):c.2260C>T (p.Arg754Ter) rs748666715 0.00003
NM_014967.5(FAN1):c.2264del (p.Glu755fs) rs756840415 0.00003
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00003
NM_015102.5(NPHP4):c.2611+1G>A rs374141736 0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952 0.00003
NM_015662.3(IFT172):c.4815+1G>A rs752257485 0.00003
NM_015662.3(IFT172):c.786-2A>T rs757253624 0.00003
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571 0.00003
NM_015693.4(INTU):c.826C>T (p.Gln276Ter) rs373900644 0.00003
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu) rs774456004 0.00003
NM_017752.3(TBC1D8B):c.1030C>T (p.Arg344Ter) rs749688361 0.00003
NM_017752.3(TBC1D8B):c.421C>T (p.Arg141Ter) rs775623397 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg) rs863225072 0.00003
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln) rs200140363 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter) rs369919590 0.00003
NM_020800.3(IFT80):c.957+1G>A rs1718069979 0.00003
NM_020975.6(RET):c.2656C>T (p.Arg886Trp) rs146838520 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp) rs749330118 0.00003
NM_024876.4(COQ8B):c.1084C>T (p.Arg362Ter) rs146616224 0.00003
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604 0.00003
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00003
NM_025114.4(CEP290):c.853-2A>G rs2039902653 0.00003
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00003
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr) rs750408092 0.00003
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) rs2067110688 0.00003
NM_052844.4(DYNC2I2):c.1372+1G>A rs371069043 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662 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.2216C>T (p.Pro739Leu) rs758352210 0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00003
NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr) rs773880430 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 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_144585.4(SLC22A12):c.1070G>A (p.Trp357Ter) rs534253348 0.00003
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00003
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00003
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) rs373745258 0.00003
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr) rs764078087 0.00003
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432 0.00003
NM_178170.3(NEK8):c.889+1G>T rs780247729 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His) rs183758503 0.00003
NM_213655.5(WNK1):c.3633+1G>T rs762015494 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00002
NM_000338.3(SLC12A1):c.2402+1G>A rs1479511052 0.00002
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=) rs772810111 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His) rs776729515 0.00002
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln) rs776195231 0.00002
NM_000486.6(AQP2):c.360+1G>A rs745861885 0.00002
NM_000486.6(AQP2):c.374C>T (p.Thr125Met) rs104894333 0.00002
NM_000486.6(AQP2):c.85G>A (p.Gly29Ser) rs964170650 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys) rs375006983 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser) rs780433336 0.00002
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val) rs748920885 0.00002
NM_001128178.3(NPHP1):c.1717-1G>T rs370205671 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys) rs772739103 0.00002
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter) rs759125480 0.00002
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter) rs751891969 0.00002
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001377.3(DYNC2H1):c.10462-2A>G rs1313315549 0.00002
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00002
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983 0.00002
NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter) rs369658526 0.00002
NM_001377.3(DYNC2H1):c.12156+1G>A rs794727944 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) rs1223863177 0.00002
NM_001377.3(DYNC2H1):c.6477+1G>A rs756313208 0.00002
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001377.3(DYNC2H1):c.8694+1G>T rs1455606327 0.00002
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu) rs775810147 0.00002
NM_002292.4(LAMB2):c.2700_2701del (p.Gly901_Gly902insTer) rs749154605 0.00002
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val) rs766482429 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn) rs763972372 0.00002
NM_006580.4(CLDN16):c.217+5G>A rs751959432 0.00002
NM_006642.5(SDCCAG8):c.1745-2A>G rs1442457872 0.00002
NM_006642.5(SDCCAG8):c.307-1G>A rs1460888769 0.00002
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 0.00002
NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter) rs368795308 0.00002
NM_012120.3(CD2AP):c.764dup (p.Ser256fs) rs776297606 0.00002
NM_014425.5(INVS):c.2068+2T>C rs777556837 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro) rs776859868 0.00002
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) rs1206753537 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_014956.5(CEP164):c.3748+2T>C rs200223232 0.00002
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567 0.00002
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs) rs765970053 0.00002
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs) rs751662952 0.00002
NM_015102.5(NPHP4):c.518-2A>G rs761142233 0.00002
NM_015102.5(NPHP4):c.992+2T>C rs746243637 0.00002
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863 0.00002
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile) rs752029771 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.1345C>T (p.Arg449Cys) rs370861594 0.00002
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00002
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter) rs767788330 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter) rs202239983 0.00002
NM_025114.4(CEP290):c.181-1G>A rs281865190 0.00002
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679 0.00002
NM_025114.4(CEP290):c.3103+1G>A rs1592550848 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951 0.00002
NM_032130.3(FAM186B):c.506-2A>G rs549662742 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_033380.3(COL4A5):c.231+2T>C rs763538451 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter) rs770590297 0.00002
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00002
NM_057176.3(BSND):c.97G>C (p.Val33Leu) rs754523289 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769 0.00002
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr) rs749730748 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.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.9715G>A (p.Gly3239Ser) rs980098360 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) rs145591298 0.00002
NM_152416.4(NDUFAF6):c.328G>T (p.Gly110Ter) rs777821109 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153240.5(NPHP3):c.393+1G>C rs754332448 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter) rs371452453 0.00002
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_153717.3(EVC):c.2562-2A>G rs1293098417 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_153717.3(EVC):c.301-1G>A rs1363547577 0.00002
NM_153766.3(KCNJ1):c.240G>T (p.Trp80Cys) rs1213764655 0.00002
NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp) rs779864905 0.00002
NM_173689.7(CRB2):c.1054+2T>G rs1225230645 0.00002
NM_000054.7(AVPR2):c.963C>A (p.Asn321Lys) rs193922123 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000085.5(CLCNKB):c.1051C>T (p.Arg351Trp) rs368504008 0.00001
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707 0.00001
NM_000091.5(COL4A3):c.1114+1G>T rs1286895614 0.00001
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala) rs1237274947 0.00001
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg) rs760203599 0.00001
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1408+1G>C rs1185847791 0.00001
NM_000091.5(COL4A3):c.145-2_145-1del rs1491486533 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.1523G>A (p.Gly508Asp) rs757774756 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu) rs1396602090 0.00001
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter) rs2071839316 0.00001
NM_000091.5(COL4A3):c.2224-2A>G rs1246102682 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.2488_2488+2del rs1363058249 0.00001
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg) rs1559897288 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg) rs771818723 0.00001
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085 0.00001
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg) rs769683665 0.00001
NM_000091.5(COL4A3):c.317G>C (p.Gly106Ala) rs1043352257 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter) rs1192750535 0.00001
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu) rs560592940 0.00001
NM_000091.5(COL4A3):c.3338-1G>A rs1344548642 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter) rs1400784100 0.00001
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742 0.00001
NM_000091.5(COL4A3):c.4253-1G>A rs1268304692 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.4755+1G>A rs1346132592 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) rs759583948 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp) rs566993466 0.00001
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00001
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269 0.00001
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.1696+1G>T rs954701825 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192 0.00001
NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg) rs202243658 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu) rs371817534 0.00001
NM_000092.5(COL4A4):c.2536G>A (p.Gly846Ser) rs1431303701 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser) rs748011297 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.3214+2T>A rs778161679 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) rs1260916310 0.00001
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099 0.00001
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val) rs933331654 0.00001
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) rs770364064 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815 0.00001
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val) rs1287040507 0.00001
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394 0.00001
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419 0.00001
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) rs377058706 0.00001
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025 0.00001
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg) rs1559393934 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000092.5(COL4A4):c.559-2A>G rs766243664 0.00001
NM_000092.5(COL4A4):c.559-2A>T rs766243664 0.00001
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val) rs2061040474 0.00001
NM_000092.5(COL4A4):c.666_667insA (p.Gly223fs) rs2475788149 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys) rs762043158 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg) rs1162654150 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter) rs1669420365 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000245.4(MET):c.3274G>A (p.Val1092Ile) rs786202724 0.00001
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 0.00001
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831 0.00001
NM_000278.5(PAX2):c.44-2A>G rs560454433 0.00001
NM_000278.5(PAX2):c.616+5648T>C rs747453876 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 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.1898+5G>A rs1553926929 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_000336.3(SCNN1B):c.1852C>T (p.Pro618Ser) rs536187488 0.00001
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) rs137852709 0.00001
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) rs1567314296 0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) rs896545456 0.00001
NM_000338.3(SLC12A1):c.975+1G>A rs770400317 0.00001
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg) rs768848958 0.00001
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys) rs778354350 0.00001
NM_000341.4(SLC3A1):c.766-2A>C rs201376169 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met) rs150340150 0.00001
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00001
NM_000486.6(AQP2):c.377C>T (p.Thr126Met) rs104894330 0.00001
NM_000486.6(AQP2):c.502G>A (p.Val168Met) rs755694590 0.00001
NM_000486.6(AQP2):c.560G>A (p.Arg187His) rs193922495 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000537.4(REN):c.249+1G>A rs756544334 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000685.5(AGTR1):c.110dup (p.Ile38fs) rs387906577 0.00001
NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter) rs397514687 0.00001
NM_000789.4(ACE):c.1186C>T (p.Gln396Ter) rs769063911 0.00001
NM_000789.4(ACE):c.1342+1G>T rs1404223383 0.00001
NM_000789.4(ACE):c.1709+5G>C rs1198993903 0.00001
NM_000789.4(ACE):c.59_69del (p.Leu20fs) rs752411292 0.00001
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter) rs1567148587 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met) rs541552030 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191 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_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001009944.3(PKD1):c.9986C>T (p.Ser3329Phe) rs1203304646 0.00001
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter) rs1193996130 0.00001
NM_001023570.4(IQCB1):c.101-1G>A rs1372024420 0.00001
NM_001023570.4(IQCB1):c.263+1G>T rs954179017 0.00001
NM_001023570.4(IQCB1):c.393+1G>C rs1226321871 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001023570.4(IQCB1):c.588-2A>G rs1250919247 0.00001
NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr) rs760905589 0.00001
NM_001080508.3(TBX18):c.1802A>G (p.Gln601Arg) rs748043014 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter) rs780404339 0.00001
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp) rs770702194 0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00001
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) rs748575829 0.00001
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) rs781342495 0.00001
NM_001126108.2(SLC12A3):c.1326C>G (p.Asn442Lys) rs775232139 0.00001
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu) rs1375515522 0.00001
NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys) rs373017321 0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) rs753523115 0.00001
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu) rs1297766065 0.00001
NM_001126108.2(SLC12A3):c.1837G>A (p.Gly613Ser) rs1222807128 0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T rs755560627 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001126108.2(SLC12A3):c.2037+87A>G rs1456555803 0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.2420-2A>G rs776181500 0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) rs1298687889 0.00001
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His) rs751929135 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro) rs764833797 0.00001
NM_001126108.2(SLC12A3):c.3043G>A (p.Val1015Met) rs775765261 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter) rs751409326 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) rs759426055 0.00001
NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile) rs759549058 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001126108.2(SLC12A3):c.841_842insA (p.Trp281Ter) rs1321932022 0.00001
NM_001126108.2(SLC12A3):c.852+243C>T rs1384167696 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.144-1G>A rs752708835 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter) rs1473345628 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.325_329+7del rs1683656584 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.385_386del (p.Ser129fs) rs757139057 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001128178.3(NPHP1):c.70-1G>T rs1171179496 0.00001
NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His) rs1343579561 0.00001
NM_001142966.3(GREB1L):c.3194C>T (p.Thr1065Ile) rs1480442865 0.00001
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001199397.3(NEK1):c.1562+2T>G rs1360145032 0.00001
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) rs758677637 0.00001
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) rs1301705612 0.00001
NM_001199397.3(NEK1):c.868+1G>C rs897732893 0.00001
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) rs769424345 0.00001
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly) rs764097811 0.00001
NM_001329943.3(KIAA0586):c.-29A>C rs752709426 0.00001
NM_001329943.3(KIAA0586):c.1885-2A>G rs1431898844 0.00001
NM_001329943.3(KIAA0586):c.271-1G>A rs1473309166 0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738 0.00001
NM_001329943.3(KIAA0586):c.3144+1G>A rs1389086114 0.00001
NM_001329943.3(KIAA0586):c.341-2A>G rs939669886 0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001329943.3(KIAA0586):c.411-1486G>A rs982449380 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G rs763815640 0.00001
NM_001375405.1(CEP120):c.321+1G>A rs1298746018 0.00001
NM_001376.5(DYNC1H1):c.6208G>A (p.Val2070Ile) rs751769427 0.00001
NM_001377.3(DYNC2H1):c.10141C>T (p.Pro3381Ser) rs1864916526 0.00001
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00001
NM_001377.3(DYNC2H1):c.10606-14A>G rs989023092 0.00001
NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter) rs373536938 0.00001
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.11256+1G>T rs543946816 0.00001
NM_001377.3(DYNC2H1):c.11494-1G>C rs1867604292 0.00001
NM_001377.3(DYNC2H1):c.11726-1G>A rs1938157903 0.00001
NM_001377.3(DYNC2H1):c.12157-2A>G rs371963928 0.00001
NM_001377.3(DYNC2H1):c.12199C>T (p.Arg4067Ter) rs376596919 0.00001
NM_001377.3(DYNC2H1):c.12409C>T (p.Pro4137Ser) rs751823989 0.00001
NM_001377.3(DYNC2H1):c.12440G>A (p.Arg4147His) rs781666816 0.00001
NM_001377.3(DYNC2H1):c.12456+2T>C rs778359687 0.00001
NM_001377.3(DYNC2H1):c.1248+1G>A rs1389651809 0.00001
NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs) rs756811136 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399 0.00001
NM_001377.3(DYNC2H1):c.1604T>C (p.Phe535Ser) rs1238325809 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.1760G>A (p.Arg587His) rs1238414767 0.00001
NM_001377.3(DYNC2H1):c.2992C>T (p.Arg998Ter) rs756008276 0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226 0.00001
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.3859C>T (p.Arg1287Ter) rs756002632 0.00001
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His) rs771893039 0.00001
NM_001377.3(DYNC2H1):c.4325G>A (p.Gly1442Asp) rs763571787 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys) rs1461272672 0.00001
NM_001377.3(DYNC2H1):c.5559-2A>G rs940562603 0.00001
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129 0.00001
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025 0.00001
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773 0.00001
NM_001377.3(DYNC2H1):c.6139+2T>C rs369196511 0.00001
NM_001377.3(DYNC2H1):c.6140-5A>G rs1362562605 0.00001
NM_001377.3(DYNC2H1):c.635T>C (p.Leu212Ser) rs1311530268 0.00001
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534 0.00001
NM_001377.3(DYNC2H1):c.6478-1G>A rs759367270 0.00001
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys) rs750689118 0.00001
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031 0.00001
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro) rs1555061205 0.00001
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) rs1322884865 0.00001
NM_001377.3(DYNC2H1):c.7276C>T (p.Arg2426Cys) rs755651498 0.00001
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter) rs561778796 0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952 0.00001
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser) rs1555064376 0.00001
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428 0.00001
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763 0.00001
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) rs758155107 0.00001
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) rs964711006 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 0.00001
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715 0.00001
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys) rs969015057 0.00001
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270 0.00001
NM_001377.3(DYNC2H1):c.9010C>T (p.Arg3004Cys) rs752449341 0.00001
NM_001377.3(DYNC2H1):c.9313C>T (p.Arg3105Ter) rs777932973 0.00001
NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys) rs923729821 0.00001
NM_001377.3(DYNC2H1):c.9820-2A>G rs864622111 0.00001
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001377.3(DYNC2H1):c.9870G>A (p.Trp3290Ter) rs1445220590 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile) rs759221881 0.00001
NM_001384479.1(AGT):c.1060C>T rs778806374 0.00001
NM_001384479.1(AGT):c.77G>A (p.Arg26Gln) rs776421645 0.00001
NM_001384479.1(AGT):c.829+1G>T rs747815674 0.00001
NM_001453.3(FOXC1):c.176G>T (p.Gly59Val) rs1762519001 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs) rs1680634325 0.00001
NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn) rs782484337 0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) rs1572924733 0.00001
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880 0.00001
NM_001692.4(ATP6V1B1):c.446-1G>A rs1363121734 0.00001
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter) rs1553419743 0.00001
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys) rs782500780 0.00001
NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter) rs1288346981 0.00001
NM_001692.4(ATP6V1B1):c.823A>C (p.Thr275Pro) rs1161604514 0.00001
NM_001692.4(ATP6V1B1):c.988G>A (p.Glu330Lys) rs781800676 0.00001
NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg) rs781655700 0.00001
NM_001845.6(COL4A1):c.4717G>A (p.Gly1573Arg) rs759600848 0.00001
NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala) rs762656795 0.00001
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr) rs759993423 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002292.4(LAMB2):c.1405C>T (p.Arg469Ter) rs746765362 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.1731+1G>A rs755787013 0.00001
NM_002292.4(LAMB2):c.2344+1G>A rs140068188 0.00001
NM_002292.4(LAMB2):c.240T>G (p.Ser80Arg) rs746230397 0.00001
NM_002292.4(LAMB2):c.3109+1G>A rs888830612 0.00001
NM_002292.4(LAMB2):c.3798-1G>C rs1131690793 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4573+1G>A rs1387723456 0.00001
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) rs376983109 0.00001
NM_002292.4(LAMB2):c.467G>A (p.Arg156His) rs1378409559 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002292.4(LAMB2):c.737G>A (p.Arg246Gln) rs121912491 0.00001
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg) rs1236962991 0.00001
NM_002968.3(SALL1):c.1666G>A (p.Gly556Ser) rs776856200 0.00001
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00001
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) rs770214617 0.00001
NM_003041.4(SLC5A2):c.484G>A (p.Gly162Arg) rs767198666 0.00001
NM_003052.5(SLC34A1):c.1069G>A (p.Gly357Arg) rs770557903 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003052.5(SLC34A1):c.937-2A>C rs754825865 0.00001
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter) rs368993197 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003638.3(ITGA8):c.1970+1G>A rs749220565 0.00001
NM_003638.3(ITGA8):c.2626C>T (p.Gln876Ter) rs765166981 0.00001
NM_003647.3(DGKE):c.1169G>A (p.Arg390His) rs1060499709 0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter) rs1450477596 0.00001
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1100G>A (p.Arg367His) rs200905486 0.00001
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867 0.00001
NM_004646.4(NPHS1):c.1126C>G (p.Leu376Val) rs386833868 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter) rs138852882 0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.191G>C (p.Trp64Ser) rs386833897 0.00001
NM_004646.4(NPHS1):c.1930+5G>A rs1017855149 0.00001
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899 0.00001
NM_004646.4(NPHS1):c.2043G>T (p.Trp681Cys) rs386833900 0.00001
NM_004646.4(NPHS1):c.2071+2T>C rs386833901 0.00001
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly) rs386833902 0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser) rs764181464 0.00001
NM_004646.4(NPHS1):c.2207T>C (p.Val736Ala) rs1973100441 0.00001
NM_004646.4(NPHS1):c.2387G>A (p.Gly796Glu) rs2146819844 0.00001
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00001
NM_004646.4(NPHS1):c.2495T>C (p.Leu832Pro) rs386833916 0.00001
NM_004646.4(NPHS1):c.2500G>T (p.Val834Phe) rs386833917 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.2882G>A (p.Trp961Ter) rs1202202990 0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn) rs386833932 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp) rs775829291 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00001
NM_004646.4(NPHS1):c.3481+4A>T rs1057524695 0.00001
NM_004646.4(NPHS1):c.3595-2A>G rs386833940 0.00001
NM_004646.4(NPHS1):c.397+1G>C rs756244380 0.00001
NM_004646.4(NPHS1):c.397+2T>C rs1054950770 0.00001
NM_004646.4(NPHS1):c.526+1G>C rs371515262 0.00001
NM_004646.4(NPHS1):c.527-1G>A rs771143648 0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter) rs386833951 0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs) rs386833952 0.00001
NM_004646.4(NPHS1):c.58+1G>A rs386833954 0.00001
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr) rs201822740 0.00001
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912 0.00001
NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter) rs386833958 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln) rs759055242 0.00001
NM_004998.4(MYO1E):c.2481-12A>G rs370209627 0.00001
NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val) rs369363545 0.00001
NM_005245.4(FAT1):c.4517G>A (p.Arg1506His) rs570583897 0.00001
NM_005264.8(GFRA1):c.676C>T (p.Arg226Ter) rs191814086 0.00001
NM_005540.3(INPP5B):c.152C>T (p.Ala51Val) rs773387490 0.00001
NM_005560.6(LAMA5):c.1538G>A (p.Gly513Glu) rs760778437 0.00001
NM_005560.6(LAMA5):c.4300G>A (p.Gly1434Arg) rs1979832889 0.00001
NM_005560.6(LAMA5):c.4315G>A (p.Gly1439Ser) rs769916610 0.00001
NM_005560.6(LAMA5):c.5315C>T (p.Thr1772Met) rs531247856 0.00001
NM_005560.6(LAMA5):c.7051C>T (p.Arg2351Trp) rs746829414 0.00001
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val) rs765256758 0.00001
NM_006580.4(CLDN16):c.437G>A (p.Arg146His) rs772241737 0.00001
NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr) rs1293775732 0.00001
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995 0.00001
NM_006642.5(SDCCAG8):c.1985+1G>T rs752046196 0.00001
NM_006642.5(SDCCAG8):c.420+1G>C rs959585740 0.00001
NM_006642.5(SDCCAG8):c.546+1G>A rs756907665 0.00001
NM_006642.5(SDCCAG8):c.675+1G>A rs1022080658 0.00001
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014270.5(SLC7A9):c.1304G>A (p.Trp435Ter) rs753324280 0.00001
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val) rs769448665 0.00001
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg) rs121908482 0.00001
NM_014270.5(SLC7A9):c.749+1G>C rs1060499787 0.00001
NM_014270.5(SLC7A9):c.88-2A>G rs1085307095 0.00001
NM_014425.5(INVS):c.1219C>T (p.Gln407Ter) rs368746630 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.766C>T (p.Arg256Ter) rs1369878554 0.00001
NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs) rs1057516747 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014625.4(NPHS2):c.873+2T>A rs967339926 0.00001
NM_014625.4(NPHS2):c.969C>A (p.Tyr323Ter) rs1292541006 0.00001
NM_014669.5(NUP93):c.2017C>T (p.Arg673Trp) rs1166462755 0.00001
NM_014714.4(IFT140):c.1009+1G>T rs1221367358 0.00001
NM_014714.4(IFT140):c.1155+1G>A rs780965515 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter) rs772603273 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_014714.4(IFT140):c.4041-2A>G rs2040425342 0.00001
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro) rs559371453 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.565del (p.Ser189fs) rs1449774485 0.00001
NM_014804.3(KIAA0753):c.661C>T (p.Arg221Ter) rs774799042 0.00001
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.1233+1G>A rs762768517 0.00001
NM_014956.5(CEP164):c.1724+1G>A rs1489883516 0.00001
NM_014956.5(CEP164):c.2066+1G>A rs1279037770 0.00001
NM_014956.5(CEP164):c.2493+1G>A rs778819060 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_014956.5(CEP164):c.2760+1G>T rs1269878493 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
NM_014956.5(CEP164):c.3437del (p.Gln1146fs) rs1396789926 0.00001
NM_014956.5(CEP164):c.3609+1G>T rs1313027554 0.00001
NM_014956.5(CEP164):c.687+1G>A rs193201363 0.00001
NM_014967.5(FAN1):c.1899del (p.Cys633fs) rs761988851 0.00001
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter) rs1430741326 0.00001
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) rs780905861 0.00001
NM_015102.5(NPHP4):c.1504-1G>A rs1204924769 0.00001
NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter) rs1414888414 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_015102.5(NPHP4):c.3812T>C (p.Leu1271Pro) rs778642094 0.00001
NM_015650.4(TRAF3IP1):c.1368-1del rs764906529 0.00001
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) rs769651861 0.00001
NM_015650.4(TRAF3IP1):c.551_554del (p.Gln184fs) rs1358016801 0.00001
NM_015650.4(TRAF3IP1):c.988-1G>C rs372499275 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015662.3(IFT172):c.2976-2A>T rs1666303205 0.00001
NM_015662.3(IFT172):c.3111+1G>T rs759612790 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.455_462dup (p.Val155fs) rs1455656088 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) rs762958757 0.00001
NM_015662.3(IFT172):c.4914+1G>A rs1436511287 0.00001
NM_016122.3(CEP83):c.550-1G>A rs1555237944 0.00001
NM_016341.4(PLCE1):c.4483C>T (p.Arg1495Ter) rs548655036 0.00001
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr) rs199469642 0.00001
NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter) rs121912624 0.00001
NM_017827.4(SARS2):c.603A>G (p.Gln201=) rs749070624 0.00001
NM_018051.5(DYNC2I1):c.1321C>T (p.Arg441Ter) rs766663693 0.00001
NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter) rs1456300819 0.00001
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs) rs748645101 0.00001
NM_018051.5(DYNC2I1):c.898C>T (p.Arg300Ter) rs780061154 0.00001
NM_020041.3(SLC2A9):c.1343C>T (p.Pro448Leu) rs372201423 0.00001
NM_020401.4(NUP107):c.580C>T (p.Arg194Ter) rs774346160 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00001
NM_020632.3(ATP6V0A4):c.2227C>T (p.Arg743Trp) rs770052600 0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter) rs769164245 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter) rs1384393001 0.00001
NM_020779.4(WDR35):c.1400+3A>G rs776631281 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_020779.4(WDR35):c.1525-2A>T rs1486662314 0.00001
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105 0.00001
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536 0.00001
NM_020800.3(IFT80):c.1076+1G>A rs2275152 0.00001
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) rs1302753011 0.00001
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter) rs1241223548 0.00001
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs) rs751910922 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_024426.6(WT1):c.965+1G>A rs771527206 0.00001
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00001
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His) rs1453462442 0.00001
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900 0.00001
NM_024753.5(TTC21B):c.152-1G>A rs371396651 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.2138+1G>T rs1686119579 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NM_024876.4(COQ8B):c.439T>C (p.Cys147Arg) rs2082092886 0.00001
NM_024876.4(COQ8B):c.893+2T>A rs759259550 0.00001
NM_025074.7(FRAS1):c.3998T>C (p.Val1333Ala) rs773232259 0.00001
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469 0.00001
NM_025114.4(CEP290):c.102+2T>A rs763226787 0.00001
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro) rs1340148485 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1712-2A>T rs764551108 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.2992-1G>T rs2037480294 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter) rs758878983 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 0.00001
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.516+1G>A rs779409629 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1982+2T>C rs780847651 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282 0.00001
NM_025132.4(WDR19):c.3262-2A>G rs753291151 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.890+1G>T rs1338996032 0.00001
NM_030787.4(CFHR5):c.1303C>T (p.Arg435Ter) rs758392186 0.00001
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala) rs372607453 0.00001
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val) rs1369565068 0.00001
NM_033380.3(COL4A5):c.2678G>T (p.Gly893Val) rs397515496 0.00001
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala) rs1569488381 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser) rs767619131 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.674C>T (p.Pro225Leu) rs1196820381 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro) rs1554770620 0.00001
NM_052844.4(DYNC2I2):c.546-1_547del rs780283055 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro) rs372355939 0.00001
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter) rs1185183557 0.00001
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter) rs1300189424 0.00001
NM_057176.3(BSND):c.272+1G>T rs1007109925 0.00001
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys) rs1135401777 0.00001
NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala) rs758858303 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11308C>T (p.Gln3770Ter) rs1222628428 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.11399-1G>A rs1183281205 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.11695C>T (p.Gln3899Ter) rs1295732689 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.11946T>A (p.Cys3982Ter) rs1207597891 0.00001
NM_138694.4(PKHD1):c.1396G>A (p.Gly466Arg) rs1410954062 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 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.1553G>A (p.Trp518Ter) rs1403804729 0.00001
NM_138694.4(PKHD1):c.1602+2T>C rs1479728870 0.00001
NM_138694.4(PKHD1):c.1694-2A>G rs1807619777 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.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg) rs1229139298 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.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2715+1G>A rs1554209188 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394 0.00001
NM_138694.4(PKHD1):c.2821+2T>C rs1394431107 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_138694.4(PKHD1):c.3229-2del rs1057516283 0.00001
NM_138694.4(PKHD1):c.3364+1G>T rs1043412457 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 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.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 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.5174G>C (p.Trp1725Ser) rs761046498 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter) rs1334951339 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00001
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly) rs202016058 0.00001
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn) rs200929620 0.00001
NM_138694.4(PKHD1):c.5909-46_5943del rs2127769312 0.00001
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897 0.00001
NM_138694.4(PKHD1):c.602+5G>A rs1810702908 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.6865+1G>A rs372573190 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 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.7486G>A (p.Gly2496Ser) rs747745685 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly) rs1471306684 0.00001
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr) rs398124496 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.8491A>G (p.Arg2831Gly) rs767914998 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.881-1G>A rs1554220431 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.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp) rs753264751 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00001
NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg) rs373241537 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.9623C>T (p.Thr3208Ile) rs1263208576 0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577 0.00001
NM_138694.4(PKHD1):c.977-1G>A rs1808864196 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_138694.4(PKHD1):c.9907del (p.Ser3303fs) rs1785247939 0.00001
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563 0.00001
NM_144585.4(SLC22A12):c.1216C>T (p.Arg406Cys) rs770757659 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018 0.00001
NM_147127.5(EVC2):c.1711-1G>A rs1553836169 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2047-2A>G rs1553833239 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter) rs1043590599 0.00001
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter) rs779407729 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3558-2A>G rs1319211611 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403 0.00001
NM_148960.3(CLDN19):c.162C>A (p.Cys54Ter) rs1303732063 0.00001
NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu) rs553635114 0.00001
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe) rs1939561839 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2172-2A>G rs547310372 0.00001
NM_153240.5(NPHP3):c.2311-1G>C rs1363032805 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153240.5(NPHP3):c.2570+1G>T rs1322038132 0.00001
NM_153240.5(NPHP3):c.2694-2A>T rs1395411307 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NM_153240.5(NPHP3):c.2918G>A (p.Arg973Gln) rs119456963 0.00001
NM_153240.5(NPHP3):c.2T>C (p.Met1Thr) rs886041990 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766 0.00001
NM_153240.5(NPHP3):c.3812+2dup rs774573183 0.00001
NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp) rs774746409 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153704.6(TMEM67):c.978+1G>A rs1563458773 0.00001
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1564-2A>G rs1553886849 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2304+2T>C rs1553892090 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.300+1G>T rs2474376997 0.00001
NM_153717.3(EVC):c.385-1G>A rs2474666866 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.702+1G>A rs1553867138 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter) rs935108422 0.00001
NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val) rs764778741 0.00001
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu) rs104894254 0.00001
NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln) rs1380025163 0.00001
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246 0.00001
NM_153766.3(KCNJ1):c.76A>G (p.Lys26Glu) rs755164642 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly) rs753949204 0.00001
NM_173551.5(ANKS6):c.1973-1G>A rs1458080834 0.00001
NM_173689.7(CRB2):c.1882C>T (p.Arg628Cys) rs202128397 0.00001
NM_173689.7(CRB2):c.3214C>T (p.Arg1072Cys) rs770448714 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_178170.3(NEK8):c.828-1G>C rs749866369 0.00001
NM_182476.3(COQ6):c.1027C>T (p.Arg343Ter) rs559873718 0.00001
NM_182476.3(COQ6):c.1078C>T (p.Arg360Trp) rs778856227 0.00001
NM_198334.3(GANAB):c.560+444A>C rs1943838983 0.00001
NM_198334.3(GANAB):c.644_645del (p.Gln215fs) rs768502347 0.00001
NM_212482.4(FN1):c.7144+1G>A rs112323657 0.00001
NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr) rs2053446114 0.00001
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
GRCh37/hg19 16p13.3(chr16:1568167-1570859)x3
GRCh37/hg19 22q11.21(chr22:21075575-21454721)
GRCh37/hg19 3q29(chr3:196033814-196033883)
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
GRCh37/hg19 4q31.23(chr4:148911418-149103259)
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
NC_000001.10:g.(?_243652316)_(243652442_?)dup
NC_000001.10:g.(?_5964816)_(6017448_?)del
NC_000001.10:g.(?_5967155)_(5969293_?)dup
NC_000002.11:g.(?_110927363)_(110927595_?)dup
NC_000002.11:g.(?_166767817)_(166806254_?)dup
NC_000002.11:g.(?_27681067)_(27687103_?)del
NC_000002.11:g.(?_27686032)_(27686703_?)del
NC_000002.11:g.(?_44508506)_(44508700_?)dup
NC_000002.12:g.(?_44280696)_(44346410_?)del
NC_000002.12:g.227030555delinsGAG rs1575895541
NC_000002.12:g.227111712_227111715dup rs1553690604
NC_000002.12:g.238332824_238332827del rs745954112
NC_000002.12:g.42108272_42108298del
NC_000003.11:g.(?_121491404)_(121500721_?)dup
NC_000003.11:g.(?_129168694)_(129236457_?)dup
NC_000003.11:g.(?_159992649)_(160000363_?)del
NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
NC_000004.11:g.(?_149081621)_(151082561_?)del
NC_000004.11:g.(?_170482611)_(170483367_?)del
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5612949)_(5633604_?)del
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5630338)_(5635928_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5733132)_(5735182_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5754598)_(5758602_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NC_000004.11:g.(?_5803694)_(5804872_?)del
NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
NC_000006.11:g.(?_51483869)_(51524777_?)del
NC_000006.11:g.(?_51491785)_(51609350_?)del
NC_000006.11:g.(?_51491828)_(51492507_?)del
NC_000006.11:g.(?_51497353)_(51524777_?)del
NC_000006.11:g.(?_51518816)_(51523750_?)del
NC_000006.11:g.(?_51609173)_(51611697_?)del
NC_000006.11:g.(?_51747238)_(51777384_?)dup
NC_000006.11:g.(?_51750655)_(51768850_?)dup
NC_000006.11:g.(?_51751911)_(51799166_?)dup
NC_000006.11:g.(?_51768385)_(51799130_?)dup
NC_000006.11:g.(?_51777144)_(51777394_?)dup
NC_000006.11:g.(?_51798898)_(51824834_?)dup
NC_000006.11:g.(?_51875087)_(51882447_?)dup
NC_000006.11:g.(?_51917864)_(51924850_?)dup
NC_000006.12:g.(?_51619071)_(51791383_?)del
NC_000006.12:g.(?_51855873)_(51912596_?)dup
NC_000009.11:g.(126129637_126129851)_(126136200_126136857)del
NC_000009.11:g.(?_103014545)_(103015438_?)dup
NC_000009.11:g.(?_103059179)_(103060312_?)del
NC_000010.10:g.(?_102510431)_(102510668_?)del
NC_000010.10:g.(?_102539235)_(102569013_?)dup
NC_000010.10:g.(?_102566167)_(102566382_?)dup
NC_000011.10:g.(?_103303073)_(103316640_?)del
NC_000011.9:g.(?_103013977)_(103102095_?)dup
NC_000011.9:g.(?_103020818)_(103025478_?)del
NC_000011.9:g.(?_117253375)_(117257939_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)dup
NC_000012.11:g.(?_88452605)_(88454791_?)dup
NC_000012.11:g.(?_88465051)_(88508979_?)dup
NC_000012.11:g.(?_88471559)_(88471893_?)del
NC_000012.11:g.(?_88517531)_(88519028_?)del
NC_000012.12:g.(?_827032)_(862280_?)dup
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000016.10:g.2137318_2137960del
NC_000016.10:g.55459531_55462663del
NC_000016.9:g.(2141176_2141423)_(2161873_2162340)dup
NC_000016.9:g.(?_1573499)_(1576817_?)dup
NC_000016.9:g.(?_56899118)_56906295del
NC_000016.9:g.2149731_(2150568_2152061)del
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NC_000019.10:g.35823999_35838548del
NC_000019.10:g.36171146CTTTTT[2]
NC_000019.9:g.(36322665_36326606)_(36326664_36330138)del
NC_000019.9:g.(36337097_36338942)_(36340266_36340451)del
NC_000019.9:g.(36337097_36338942)_(36340556_36341265)del
NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
NC_000023.10:g.(?_128698100)_(128701239_?)del
NC_000023.10:g.(?_128699729)_(128701360_?)del
NC_000023.10:g.(?_132730458)_(132834066_?)dup
NC_000023.10:g.(?_132795738)_(132795898_?)dup
NC_000023.10:g.(?_132887489)_(132888223_?)dup
NC_000023.10:g.(?_132887499)_(132888213_?)dup
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) rs180177161
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.863G>A (p.Trp288Ter) rs2106431706
NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro) rs193922112
NM_000054.7(AVPR2):c.185T>C (p.Leu62Pro) rs2521151990
NM_000054.7(AVPR2):c.206_210del (p.Gly69fs)
NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro) rs193922113
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe) rs1057518723
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly) rs104894761
NM_000054.7(AVPR2):c.424del (p.Cys142fs) rs193922114
NM_000054.7(AVPR2):c.472del (p.Arg158fs) rs193922115
NM_000054.7(AVPR2):c.474del (p.Pro159fs)
NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg) rs782601647
NM_000054.7(AVPR2):c.520C>G (p.Gln174Glu) rs2521155993
NM_000054.7(AVPR2):c.522G>T (p.Gln174His) rs2521156033
NM_000054.7(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.7(AVPR2):c.601G>T (p.Gly201Cys)
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys) rs782806507
NM_000054.7(AVPR2):c.673C>T (p.Gln225Ter) rs193922117
NM_000054.7(AVPR2):c.685T>G (p.Phe229Val)
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000054.7(AVPR2):c.770del (p.Gly257fs) rs193922119
NM_000054.7(AVPR2):c.814A>G (p.Met272Val) rs2064966794
NM_000054.7(AVPR2):c.815dup (p.Met272fs)
NM_000054.7(AVPR2):c.816G>A (p.Met272Ile) rs1603282342
NM_000054.7(AVPR2):c.819_821del (p.Leu274del) rs193922120
NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro) rs193922122
NM_000054.7(AVPR2):c.964C>A (p.Pro322Thr) rs2148515160
NM_000054.7(AVPR2):c.993dup (p.Val332fs) rs2521162046
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.1394_1403del (p.Val465fs)
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.2279del (p.Leu760fs) rs886038071
NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter) rs763639231
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
NM_000059.4(BRCA2):c.7402dup (p.Val2468fs) rs2548540716
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.8488-14A>G rs1555287728
NM_000059.4(BRCA2):c.8954-15T>G rs886040948
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
NM_000059.4(BRCA2):c.9502-28A>G rs397508059
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) rs80359230
NM_000064.4(C3):c.3085G>A (p.Asp1029Asn) rs1599507415
NM_000081.4(LYST):c.11149_11151dup (p.Val3717_Ser3718insVal)
NM_000085.5(CLCNKB):c.1026del (p.Ser343fs) rs2524386003
NM_000085.5(CLCNKB):c.1053+2T>A
NM_000085.5(CLCNKB):c.1153C>T (p.Gln385Ter)
NM_000085.5(CLCNKB):c.1234_1246del (p.Met412fs) rs2524389129
NM_000085.5(CLCNKB):c.1324G>A (p.Glu442Lys) rs2524389961
NM_000085.5(CLCNKB):c.1395del (p.Tyr466fs)
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) rs1570340095
NM_000085.5(CLCNKB):c.1408G>C (p.Gly470Arg) rs2124102347
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs) rs1159737562
NM_000085.5(CLCNKB):c.1586_1589dup (p.Tyr531fs)
NM_000085.5(CLCNKB):c.1712_1713del (p.Val571fs)
NM_000085.5(CLCNKB):c.1755A>G (p.Thr585=)
NM_000085.5(CLCNKB):c.1846-1G>A
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000085.5(CLCNKB):c.1987A>T (p.Arg663Ter)
NM_000085.5(CLCNKB):c.320del (p.Ser107fs)
NM_000085.5(CLCNKB):c.36del (p.Asn14fs)
NM_000085.5(CLCNKB):c.387del (p.Met129fs)
NM_000085.5(CLCNKB):c.446T>A (p.Val149Glu)
NM_000085.5(CLCNKB):c.490G>T (p.Gly164Trp)
NM_000085.5(CLCNKB):c.656-140CCCTC[3]
NM_000085.5(CLCNKB):c.781G>T (p.Glu261Ter)
NM_000085.5(CLCNKB):c.787_791del (p.Ile263fs)
NM_000085.5(CLCNKB):c.846CTT[1] (p.Phe285del)
NM_000085.5(CLCNKB):c.869del
NM_000085.5(CLCNKB):c.969-2A>C
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.1015_1016insTGAAA (p.Gly339fs) rs2469594045
NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala) rs2469594055
NM_000091.5(COL4A3):c.1029+1G>C
NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter) rs2469606943
NM_000091.5(COL4A3):c.1042_1043delinsT (p.Asp348fs) rs2469607070
NM_000091.5(COL4A3):c.1046_1047del (p.Thr349fs)
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter) rs752030126
NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp) rs1559875465
NM_000091.5(COL4A3):c.1114+1G>A rs1286895614
NM_000091.5(COL4A3):c.1114+2T>C rs956551930
NM_000091.5(COL4A3):c.1114G>T (p.Gly372Cys)
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg) rs2070534871
NM_000091.5(COL4A3):c.1151-1G>A
NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg) rs2070734616
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter) rs1348174898
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter) rs2070736908
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer) rs2469447838
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg) rs2469634498
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) rs1363441287
NM_000091.5(COL4A3):c.1262del (p.Gly421fs) rs2125972772
NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val) rs2469634805
NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter) rs2469634847
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1321dup (p.Ile441fs)
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1361del (p.Pro454fs) rs2469651883
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val) rs2070897613
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.5(COL4A3):c.1373G>T (p.Gly458Val) rs2125981183
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) rs2125981235
NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg) rs201088233
NM_000091.5(COL4A3):c.1400G>A (p.Gly467Glu)
NM_000091.5(COL4A3):c.1407del (p.Gly470fs) rs766025194
NM_000091.5(COL4A3):c.1408+1G>T
NM_000091.5(COL4A3):c.1408+2T>A
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter) rs2070901479
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
NM_000091.5(COL4A3):c.1477G>A (p.Gly493Arg)
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter) rs2071139043
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter) rs2068937789
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter) rs921768118
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg) rs2071142257
NM_000091.5(COL4A3):c.1541G>C (p.Gly514Ala)
NM_000091.5(COL4A3):c.1557del (p.Gly520fs)
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) rs1574745989
NM_000091.5(COL4A3):c.1572dup (p.Pro525fs) rs2469677840
NM_000091.5(COL4A3):c.1575+2dup
NM_000091.5(COL4A3):c.1585G>C (p.Gly529Arg)
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1595G>A (p.Gly532Asp)
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter) rs2071189852
NM_000091.5(COL4A3):c.163G>A (p.Gly55Arg)
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter) rs2469683983
NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs) rs2469684210
NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu) rs2469684422
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.1682_1685del (p.Gln561fs) rs2469684566
NM_000091.5(COL4A3):c.1697G>A (p.Gly566Asp) rs2469684718
NM_000091.5(COL4A3):c.1724G>A (p.Gly575Glu)
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter) rs2469685114
NM_000091.5(COL4A3):c.172G>C (p.Gly58Arg)
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter) rs920504687
NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys) rs2125991456
NM_000091.5(COL4A3):c.1752del (p.Glu585fs)
NM_000091.5(COL4A3):c.1758+1G>A rs1553757096
NM_000091.5(COL4A3):c.1758+3del rs2469685375
NM_000091.5(COL4A3):c.1767_1773del (p.Ser589fs) rs2469699400
NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg) rs2469699523
NM_000091.5(COL4A3):c.1787G>T (p.Gly596Val) rs2469699666
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1]) rs1444785718
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val) rs2469700028
NM_000091.5(COL4A3):c.1820del (p.Pro607fs)
NM_000091.5(COL4A3):c.1822G>C (p.Gly608Arg)
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1832G>T (p.Gly611Val)
NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter) rs773515249
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu) rs2125996486
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg) rs2125996501
NM_000091.5(COL4A3):c.1879del (p.Gln627fs) rs2469700927
NM_000091.5(COL4A3):c.1892G>C (p.Gly631Ala)
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.5(COL4A3):c.1900G>A (p.Gly634Arg) rs1060499696
NM_000091.5(COL4A3):c.1927+1G>A
NM_000091.5(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000091.5(COL4A3):c.1956_1978del (p.Pro653fs) rs2071566709
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu) rs2071568063
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.5(COL4A3):c.2003_2004delinsA (p.Gly668fs)
NM_000091.5(COL4A3):c.2008C>T (p.Gln670Ter)
NM_000091.5(COL4A3):c.2011G>C (p.Gly671Arg)
NM_000091.5(COL4A3):c.2020+1G>A
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2030G>T (p.Gly677Val)
NM_000091.5(COL4A3):c.2039G>A (p.Gly680Glu)
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) rs2106132144
NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter) rs1574658390
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser) rs761780956
NM_000091.5(COL4A3):c.2076_2077del (p.Glu693fs) rs2469731988
NM_000091.5(COL4A3):c.2126-1G>C rs2071831565
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu) rs1553759430
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val) rs2071832975
NM_000091.5(COL4A3):c.2143G>A (p.Gly715Ser)
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala) rs267599232
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter) rs2469747787
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu) rs2106147306
NM_000091.5(COL4A3):c.2188G>A (p.Gly730Arg)
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu) rs2071838155
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter) rs2469748132
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val) rs773317939
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.2257G>C (p.Gly753Arg)
NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp) rs1308023279
NM_000091.5(COL4A3):c.2267G>C (p.Gly756Ala)
NM_000091.5(COL4A3):c.226G>A (p.Gly76Arg)
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg) rs2071886531
NM_000091.5(COL4A3):c.227G>T (p.Gly76Val)
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.5(COL4A3):c.2294G>A (p.Gly765Glu)
NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg) rs2469754387
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2]) rs1553759665
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp) rs2106151987
NM_000091.5(COL4A3):c.2339del (p.Gly780fs)
NM_000091.5(COL4A3):c.234+1G>A rs1240838887
NM_000091.5(COL4A3):c.234+1_234+2del
NM_000091.5(COL4A3):c.234+1del
NM_000091.5(COL4A3):c.2347G>C (p.Gly783Arg)
NM_000091.5(COL4A3):c.235-2A>T
NM_000091.5(COL4A3):c.236G>A (p.Gly79Asp)
NM_000091.5(COL4A3):c.2375-2A>G rs2071916145
NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu) rs2469758704
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu) rs1283533086
NM_000091.5(COL4A3):c.2390del (p.Pro797fs) rs2469758753
NM_000091.5(COL4A3):c.2392G>A (p.Gly798Arg)
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2444dup (p.Ala816fs) rs2469759449
NM_000091.5(COL4A3):c.2456_2457insACTGTCTCTTA (p.Pro820fs) rs2469759634
NM_000091.5(COL4A3):c.245G>T (p.Gly82Val)
NM_000091.5(COL4A3):c.2470G>A (p.Gly824Arg)
NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu) rs2469759941
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser) rs2072039168
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp) rs779489401
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.2507G>T (p.Gly836Val)
NM_000091.5(COL4A3):c.2510del (p.Pro837fs) rs2469769276
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala) rs2469769803
NM_000091.5(COL4A3):c.2564_2565del (p.Thr855fs)
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) rs1574782666
NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg) rs1574782666
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter) rs2072046147
NM_000091.5(COL4A3):c.2591_2592insT (p.Gln864fs) rs2469770211
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg) rs2106164384
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter) rs2106164384
NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val)
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) rs1402894646
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter) rs2072047738
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.2629G>A (p.Gly877Arg)
NM_000091.5(COL4A3):c.2656+1G>T rs2469770966
NM_000091.5(COL4A3):c.2657-1G>A rs373324875
NM_000091.5(COL4A3):c.2657G>A (p.Gly886Asp)
NM_000091.5(COL4A3):c.2666G>T (p.Gly889Val) rs2469779404
NM_000091.5(COL4A3):c.2673_2676delinsATTTTCGA (p.Gly892fs) rs2469779530
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu) rs2469779686
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu) rs1174417447
NM_000091.5(COL4A3):c.2719G>T (p.Gly907Trp)
NM_000091.5(COL4A3):c.272G>T (p.Gly91Val)
NM_000091.5(COL4A3):c.2756G>T (p.Gly919Val) rs1445819062
NM_000091.5(COL4A3):c.275dup (p.Arg93fs)
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg) rs1405970656
NM_000091.5(COL4A3):c.2765G>A (p.Gly922Glu)
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.279+1G>C rs202001097
NM_000091.5(COL4A3):c.279+1G>T rs202001097
NM_000091.5(COL4A3):c.280-1G>A
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter) rs2069240492
NM_000091.5(COL4A3):c.2830_2831delinsG (p.Pro944fs) rs2469784298
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter) rs2072184526
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu) rs2106175500
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val) rs2106175500
NM_000091.5(COL4A3):c.2870del (p.Pro957fs) rs2469784657
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu) rs746766677
NM_000091.5(COL4A3):c.289G>A (p.Gly97Arg)
NM_000091.5(COL4A3):c.2945G>A (p.Gly982Asp)
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter) rs2469816176
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter) rs2072530756
NM_000091.5(COL4A3):c.2954G>A (p.Gly985Glu)
NM_000091.5(COL4A3):c.2957_2972del (p.Leu986fs)
NM_000091.5(COL4A3):c.2961_2978del (p.Ala990_Pro995del)
NM_000091.5(COL4A3):c.2962G>C (p.Gly988Arg)
NM_000091.5(COL4A3):c.2962G>T (p.Gly988Ter)
NM_000091.5(COL4A3):c.2981G>A (p.Gly994Asp) rs1574803132
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.5(COL4A3):c.3007G>A (p.Gly1003Arg)
NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg)
NM_000091.5(COL4A3):c.3025G>C (p.Gly1009Arg)
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala) rs1204230457
NM_000091.5(COL4A3):c.3026del (p.Gly1009fs) rs755109848
NM_000091.5(COL4A3):c.3035G>A (p.Gly1012Asp)
NM_000091.5(COL4A3):c.303_324+18del
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.304dup (p.Ser102fs) rs2469494821
NM_000091.5(COL4A3):c.305del (p.Ser102fs) rs2069242131
NM_000091.5(COL4A3):c.3061G>A (p.Gly1021Ser)
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3070+1G>A rs2106206598
NM_000091.5(COL4A3):c.3071-2A>G
NM_000091.5(COL4A3):c.3079G>A (p.Gly1027Arg)
NM_000091.5(COL4A3):c.308G>A (p.Gly103Asp)
NM_000091.5(COL4A3):c.3097G>A (p.Gly1033Arg)
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.5(COL4A3):c.3106G>A (p.Gly1036Ser)
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu) rs2072647561
NM_000091.5(COL4A3):c.3133G>C (p.Gly1045Arg)
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) rs2072649241
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter) rs2072651666
NM_000091.5(COL4A3):c.317G>T (p.Gly106Val) rs1043352257
NM_000091.5(COL4A3):c.3203G>A (p.Gly1068Glu)
NM_000091.5(COL4A3):c.3206del (p.Pro1069fs) rs2469829894
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.3211-1G>T
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala) rs765128550
NM_000091.5(COL4A3):c.324+1G>A rs2125906801
NM_000091.5(COL4A3):c.3248G>A (p.Gly1083Glu)
NM_000091.5(COL4A3):c.325-1G>A rs762518741
NM_000091.5(COL4A3):c.3256G>A (p.Gly1086Arg)
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu) rs1559909513
NM_000091.5(COL4A3):c.3283G>A (p.Gly1095Arg)
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter) rs2469850008
NM_000091.5(COL4A3):c.3310G>C (p.Gly1104Arg)
NM_000091.5(COL4A3):c.3311G>C (p.Gly1104Ala)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3327_3330del (p.Gly1110fs) rs2469850410
NM_000091.5(COL4A3):c.3337+1del rs1350835100
NM_000091.5(COL4A3):c.3342dup (p.Pro1115fs)
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter) rs2072936269
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter) rs2072936529
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter) rs2072936636
NM_000091.5(COL4A3):c.3383G>A (p.Gly1128Asp) rs2469859573
NM_000091.5(COL4A3):c.3395del (p.Pro1132fs)
NM_000091.5(COL4A3):c.3409G>A (p.Gly1137Ser)
NM_000091.5(COL4A3):c.3409G>C (p.Gly1137Arg)
NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)
NM_000091.5(COL4A3):c.3418G>T (p.Gly1140Cys)
NM_000091.5(COL4A3):c.3419-2A>C
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg) rs1489682011
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala) rs1408412826
NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser) rs749383170
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp) rs867868120
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) rs774583962
NM_000091.5(COL4A3):c.3463_3464delinsAA (p.Gly1155Asn)
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp) rs2469863799
NM_000091.5(COL4A3):c.3517+1G>T
NM_000091.5(COL4A3):c.3539G>A (p.Gly1180Asp)
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3546dup (p.Gly1183fs) rs2469865789
NM_000091.5(COL4A3):c.3549dup (p.Asn1184fs) rs2469865804
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg) rs1305836268
NM_000091.5(COL4A3):c.3561_3562del (p.Gln1188fs) rs2469865930
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter) rs2072983130
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.357del (p.Val120fs)
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp) rs755849032
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.5(COL4A3):c.3647del (p.Gly1216fs) rs2469880076
NM_000091.5(COL4A3):c.3671del (p.Pro1224fs) rs764376138
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs) rs2073096212
NM_000091.5(COL4A3):c.3674G>A (p.Gly1225Glu)
NM_000091.5(COL4A3):c.3682G>A (p.Gly1228Ser)
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg) rs2469502863
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg) rs2106247498
NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg) rs2469880740
NM_000091.5(COL4A3):c.3749del (p.Pro1250fs) rs1335923152
NM_000091.5(COL4A3):c.3751+1G>A rs781566652
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg) rs2106250807
NM_000091.5(COL4A3):c.3821G>A (p.Gly1274Asp)
NM_000091.5(COL4A3):c.3839G>A (p.Gly1280Asp)
NM_000091.5(COL4A3):c.3856G>A (p.Gly1286Arg)
NM_000091.5(COL4A3):c.3875G>C (p.Gly1292Ala)
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3882+5G>C
NM_000091.5(COL4A3):c.3883-2A>G rs1553765265
NM_000091.5(COL4A3):c.3892G>C (p.Gly1298Arg) rs2469904729
NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)
NM_000091.5(COL4A3):c.3915del (p.Arg1306fs) rs2469904884
NM_000091.5(COL4A3):c.3919G>A (p.Gly1307Ser)
NM_000091.5(COL4A3):c.3920G>A (p.Gly1307Asp)
NM_000091.5(COL4A3):c.3928G>T (p.Gly1310Ter) rs2469904962
NM_000091.5(COL4A3):c.3947G>T (p.Gly1316Val)
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter) rs2073363435
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys) rs759739044
NM_000091.5(COL4A3):c.3965G>A (p.Gly1322Asp)
NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs) rs2469908814
NM_000091.5(COL4A3):c.4004del (p.Pro1335fs) rs2469909195
NM_000091.5(COL4A3):c.4009G>A (p.Gly1337Arg)
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.5(COL4A3):c.4027+1G>C
NM_000091.5(COL4A3):c.4027+1del
NM_000091.5(COL4A3):c.4028-2A>C
NM_000091.5(COL4A3):c.4028-2A>G
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter) rs2073400756
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter) rs2073401408
NM_000091.5(COL4A3):c.4100del (p.Gly1367fs) rs2469910358
NM_000091.5(COL4A3):c.4108G>A (p.Gly1370Arg) rs1431769783
NM_000091.5(COL4A3):c.4154G>A (p.Gly1385Glu)
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser) rs2106274329
NM_000091.5(COL4A3):c.4190G>A (p.Gly1397Glu)
NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)
NM_000091.5(COL4A3):c.4207G>A (p.Gly1403Arg)
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter) rs772528863
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter) rs2073446479
NM_000091.5(COL4A3):c.4226_4227delinsAA (p.Gly1409Glu) rs2469916604
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) rs2073446714
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter) rs2469916694
NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg) rs2469916768
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter) rs2106283830
NM_000091.5(COL4A3):c.4265_4273del (p.Ser1422_Gly1424del) rs746597831
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter) rs2073567181
NM_000091.5(COL4A3):c.4280del (p.Gly1427fs) rs2469930740
NM_000091.5(COL4A3):c.4289G>A (p.Gly1430Glu) rs774856700
NM_000091.5(COL4A3):c.4289G>T (p.Gly1430Val)
NM_000091.5(COL4A3):c.4298del (p.Gly1433fs) rs2469930892
NM_000091.5(COL4A3):c.4307del (p.Gly1436fs) rs2469930937
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter) rs2469931435
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter) rs2469931914
NM_000091.5(COL4A3):c.443G>A (p.Gly148Asp)
NM_000091.5(COL4A3):c.448del (p.Ala150fs) rs2469517638
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter) rs2073628823
NM_000091.5(COL4A3):c.4531_4534del (p.Cys1511fs) rs2469937169
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter) rs2469937391
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter) rs2073630720
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter) rs2469937744
NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs) rs2469937825
NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs) rs2469937855
NM_000091.5(COL4A3):c.4640+1G>A rs1553766404
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter) rs1574842143
NM_000091.5(COL4A3):c.468+1G>A rs1553751122
NM_000091.5(COL4A3):c.468+1G>T rs1553751122
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter) rs2469939276
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.4756-1G>A rs1553766735
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4825del (p.Arg1609fs) rs2073715263
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.5(COL4A3):c.4887_4888del (p.Tyr1629_Ser1630delinsTer)
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys) rs2106295155
NM_000091.5(COL4A3):c.4972dup (p.Ile1658fs) rs2073752422
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg) rs1574681401
NM_000091.5(COL4A3):c.522dup (p.Leu175fs) rs761358728
NM_000091.5(COL4A3):c.529G>A (p.Gly177Arg)
NM_000091.5(COL4A3):c.539G>A (p.Gly180Glu)
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys) rs2069716520
NM_000091.5(COL4A3):c.560_563del (p.Pro187fs) rs749348004
NM_000091.5(COL4A3):c.570del (p.Pro191fs) rs2469543375
NM_000091.5(COL4A3):c.576_593del (p.Val194_Pro199del) rs2469543418
NM_000091.5(COL4A3):c.584G>T (p.Gly195Val)
NM_000091.5(COL4A3):c.602G>A (p.Gly201Glu)
NM_000091.5(COL4A3):c.610-1G>A rs2469545357
NM_000091.5(COL4A3):c.610-1G>C rs2469545357
NM_000091.5(COL4A3):c.615del (p.Pro206fs) rs2469545432
NM_000091.5(COL4A3):c.619G>C (p.Gly207Arg)
NM_000091.5(COL4A3):c.637G>C (p.Gly213Arg)
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter) rs2469545819
NM_000091.5(COL4A3):c.645+2T>C rs1553752199
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys) rs1169752185
NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys)
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp) rs2069900248
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) rs2069900248
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) rs1574698507
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) rs2125932297
NM_000091.5(COL4A3):c.689dup rs2469563027
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg) rs2125932350
NM_000091.5(COL4A3):c.698G>T (p.Gly233Val) rs1453982069
NM_000091.5(COL4A3):c.700_701del (p.Leu234fs) rs2469563154
NM_000091.5(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.716dup (p.Pro240fs) rs2469563364
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer) rs2469563696
NM_000091.5(COL4A3):c.765G>T (p.Thr255=) rs869025328
NM_000091.5(COL4A3):c.766-2A>T
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) rs2125934541
NM_000091.5(COL4A3):c.782del (p.Lys261fs)
NM_000091.5(COL4A3):c.802G>A (p.Gly268Ser)
NM_000091.5(COL4A3):c.803dup (p.Glu269fs) rs2469568674
NM_000091.5(COL4A3):c.821G>A (p.Gly274Glu)
NM_000091.5(COL4A3):c.829-1G>A
NM_000091.5(COL4A3):c.829-2A>C rs1553753119
NM_000091.5(COL4A3):c.829-2A>G rs1553753119
NM_000091.5(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg) rs2070035662
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg) rs2125936494
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.5(COL4A3):c.894del (p.Lys298fs) rs2070145822
NM_000091.5(COL4A3):c.917G>T (p.Gly306Val)
NM_000091.5(COL4A3):c.943G>A (p.Gly315Ser)
NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp) rs1287109722
NM_000091.5(COL4A3):c.94_95del (p.Val32fs) rs1385106410
NM_000091.5(COL4A3):c.952G>A (p.Gly318Ser)
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)
NM_000091.5(COL4A3):c.987+1G>T
NM_000091.5(COL4A3):c.988-5_988delinsAT
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter) rs768527987
NM_000091.5(COL4A3):c.997G>C (p.Gly333Arg)
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.1003G>T (p.Gly335Trp)
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp) rs2475529342
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter) rs2060519888
NM_000092.5(COL4A4):c.1029+2T>C rs1553682895
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1030-2A>C rs1553681714
NM_000092.5(COL4A4):c.1030-2del rs2150750057
NM_000092.5(COL4A4):c.1030G>A (p.Gly344Arg) rs267599231
NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.5(COL4A4):c.1034del (p.Asp345fs)
NM_000092.5(COL4A4):c.1049G>A (p.Gly350Glu)
NM_000092.5(COL4A4):c.1073T>A (p.Leu358Ter) rs2475458276
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1099+1G>T rs1372782305
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser) rs764981982
NM_000092.5(COL4A4):c.1099G>C (p.Gly367Arg)
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.5(COL4A4):c.114+1G>C rs1553712110
NM_000092.5(COL4A4):c.1143del (p.Asp383fs)
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg) rs2150739928
NM_000092.5(COL4A4):c.1146_1147dup (p.Asp383fs)
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter) rs2475419713
NM_000092.5(COL4A4):c.1169del (p.Pro390fs) rs2475418667
NM_000092.5(COL4A4):c.1172G>A (p.Gly391Asp)
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val) rs2475417678
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs) rs2060340440
NM_000092.5(COL4A4):c.1205-1_1205delinsC
NM_000092.5(COL4A4):c.1222G>A (p.Gly408Arg)
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs) rs2150687684
NM_000092.5(COL4A4):c.1240G>A (p.Gly414Ser)
NM_000092.5(COL4A4):c.1240G>C (p.Gly414Arg) rs373150214
NM_000092.5(COL4A4):c.1240G>T (p.Gly414Cys) rs373150214
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp) rs2150687507
NM_000092.5(COL4A4):c.1259G>A (p.Gly420Glu)
NM_000092.5(COL4A4):c.1267G>A (p.Gly423Ser)
NM_000092.5(COL4A4):c.1268G>A (p.Gly423Asp)
NM_000092.5(COL4A4):c.1268del (p.Gly423fs) rs2475254533
NM_000092.5(COL4A4):c.129C>G (p.Tyr43Ter)
NM_000092.5(COL4A4):c.1308dup (p.Lys437fs)
NM_000092.5(COL4A4):c.1315G>A (p.Gly439Arg)
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1324G>A (p.Gly442Ser) rs2060086619
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.134del (p.Gly45fs)
NM_000092.5(COL4A4):c.1351G>A (p.Gly451Ser)
NM_000092.5(COL4A4):c.1352G>T (p.Gly451Val)
NM_000092.5(COL4A4):c.1369+1G>A rs1553676230
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.1399_1400del (p.Pro467fs)
NM_000092.5(COL4A4):c.1400del (p.Pro467fs) rs2475085768
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter) rs2059821994
NM_000092.5(COL4A4):c.141T>A (p.Cys47Ter)
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.5(COL4A4):c.1442G>T (p.Gly481Val)
NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs) rs2475082705
NM_000092.5(COL4A4):c.1459+1G>A rs753818949
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs) rs2150596830
NM_000092.5(COL4A4):c.1499G>T (p.Gly500Val)
NM_000092.5(COL4A4):c.1505del (p.Pro502fs) rs2475031974
NM_000092.5(COL4A4):c.1517G>A (p.Gly506Glu) rs1258499665
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) rs2150595867
NM_000092.5(COL4A4):c.1535G>T (p.Gly512Val)
NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter) rs765866000
NM_000092.5(COL4A4):c.1544G>A (p.Gly515Glu)
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val) rs2150595484
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu) rs564334744
NM_000092.5(COL4A4):c.1554del (p.Leu519fs) rs2059734968
NM_000092.5(COL4A4):c.1565G>A (p.Trp522Ter)
NM_000092.5(COL4A4):c.1578del (p.Gly527fs) rs2059733367
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.158_159del (p.Ser53fs) rs2063103741
NM_000092.5(COL4A4):c.1615G>A (p.Gly539Arg) rs2475022046
NM_000092.5(COL4A4):c.1624-2A>G
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter) rs2059358378
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1697-1G>A rs1559569975
NM_000092.5(COL4A4):c.1697-2A>C
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter) rs2476899667
NM_000092.5(COL4A4):c.1724G>C (p.Gly575Ala)
NM_000092.5(COL4A4):c.1748del (p.Pro583fs) rs2474786672
NM_000092.5(COL4A4):c.1759G>T (p.Gly587Cys) rs764242946
NM_000092.5(COL4A4):c.1777G>T (p.Gly593Ter)
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.1804-1G>C
NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs) rs2474721255
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.5(COL4A4):c.1850dup (p.Leu618fs) rs2474719709
NM_000092.5(COL4A4):c.1865dup (p.Lys623fs) rs1213277033
NM_000092.5(COL4A4):c.186dup (p.Ser63fs) rs2125291573
NM_000092.5(COL4A4):c.1874G>A (p.Gly625Glu)
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.5(COL4A4):c.1915G>C (p.Gly639Arg)
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter) rs778345125
NM_000092.5(COL4A4):c.1925G>T (p.Gly642Val)
NM_000092.5(COL4A4):c.193-2del rs2476245865
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.1938_1941dup (p.Gly648fs)
NM_000092.5(COL4A4):c.193G>C (p.Gly65Arg)
NM_000092.5(COL4A4):c.194G>T (p.Gly65Val)
NM_000092.5(COL4A4):c.1951G>A (p.Gly651Ser)
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val) rs2059121113
NM_000092.5(COL4A4):c.1961del (p.Gly654fs)
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly) rs1387537859
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter) rs2059119564
NM_000092.5(COL4A4):c.1979G>A (p.Gly660Asp)
NM_000092.5(COL4A4):c.1981C>T (p.Gln661Ter)
NM_000092.5(COL4A4):c.1987+1G>A rs2150474860
NM_000092.5(COL4A4):c.1988-2A>G
NM_000092.5(COL4A4):c.2029G>A (p.Gly677Ser) rs1977400475
NM_000092.5(COL4A4):c.203G>A (p.Gly68Glu)
NM_000092.5(COL4A4):c.203G>T (p.Gly68Val)
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) rs1156323870
NM_000092.5(COL4A4):c.2074G>A (p.Gly692Ser) rs1353512742
NM_000092.5(COL4A4):c.2075G>T (p.Gly692Val)
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.5(COL4A4):c.2115dup (p.Lys706Ter)
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter) rs1976602205
NM_000092.5(COL4A4):c.213_239del (p.Pro72_Gly80del) rs2476242345
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg) rs2474252483
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs) rs1976595425
NM_000092.5(COL4A4):c.2164+2T>G rs1976595133
NM_000092.5(COL4A4):c.2165-1G>A
NM_000092.5(COL4A4):c.2192G>A (p.Gly731Asp) rs1976367934
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter) rs2474225085
NM_000092.5(COL4A4):c.2207del (p.Lys736fs) rs2474224740
NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs) rs2474224530
NM_000092.5(COL4A4):c.2224G>C (p.Gly742Arg)
NM_000092.5(COL4A4):c.2241del (p.Gly748fs) rs2474222643
NM_000092.5(COL4A4):c.2243G>C (p.Gly748Ala)
NM_000092.5(COL4A4):c.2251G>A (p.Gly751Arg)
NM_000092.5(COL4A4):c.2251G>T (p.Gly751Ter) rs2150275391
NM_000092.5(COL4A4):c.2252G>C (p.Gly751Ala)
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu) rs2474221510
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.2297_2298del (p.His766fs) rs2474220383
NM_000092.5(COL4A4):c.2302G>T (p.Gly768Ter)
NM_000092.5(COL4A4):c.2346del (p.Gly783fs) rs2474218124
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.5(COL4A4):c.2375G>A (p.Gly792Glu)
NM_000092.5(COL4A4):c.2399del (p.Pro800fs)
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu) rs200814061
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2419G>T (p.Gly807Cys)
NM_000092.5(COL4A4):c.2437G>A (p.Gly813Arg)
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.2464G>C (p.Gly822Arg)
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu) rs1559677316
NM_000092.5(COL4A4):c.2501G>A (p.Gly834Glu)
NM_000092.5(COL4A4):c.2519G>A (p.Gly840Glu)
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter) rs2474161328
NM_000092.5(COL4A4):c.2545+1G>A rs2474160561
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2545G>A (p.Gly849Ser)
NM_000092.5(COL4A4):c.2546-1G>C rs1553641728
NM_000092.5(COL4A4):c.2555G>A (p.Gly852Asp) rs2474124227
NM_000092.5(COL4A4):c.2563G>A (p.Gly855Arg)
NM_000092.5(COL4A4):c.2575del (p.Asp859fs)
NM_000092.5(COL4A4):c.2599G>A (p.Gly867Arg) rs768902127
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter) rs768902127
NM_000092.5(COL4A4):c.2608G>A (p.Gly870Ser) rs2150235414
NM_000092.5(COL4A4):c.2608G>C (p.Gly870Arg)
NM_000092.5(COL4A4):c.2609G>C (p.Gly870Ala)
NM_000092.5(COL4A4):c.2616del (p.Gly873fs) rs2474121090
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup) rs765923395
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.5(COL4A4):c.2629_2664del (p.Arg877_Gly888del) rs2150234491
NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del) rs2474118082
NM_000092.5(COL4A4):c.2644_2647delinsTCCAGGAGGCCT (p.Gly882fs)
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.2663G>A (p.Gly888Glu)
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs) rs2474117528
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs) rs2474117368
NM_000092.5(COL4A4):c.2698G>T (p.Gly900Cys) rs2474116574
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu) rs2150221180
NM_000092.5(COL4A4):c.2734G>T (p.Gly912Cys)
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter) rs2061755379
NM_000092.5(COL4A4):c.2762G>A (p.Gly921Glu)
NM_000092.5(COL4A4):c.2765del (p.Lys922fs)
NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs) rs2474078466
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg) rs1194269620
NM_000092.5(COL4A4):c.2880dup (p.Asp961fs) rs2474010597
NM_000092.5(COL4A4):c.2892_2893insC (p.Met965fs)
NM_000092.5(COL4A4):c.2894dup (p.Met965fs) rs2474010076
NM_000092.5(COL4A4):c.2896dup (p.Ala966fs)
NM_000092.5(COL4A4):c.292G>A (p.Gly98Ser)
NM_000092.5(COL4A4):c.292_293dup (p.Pro99fs) rs2476238585
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg) rs759439914
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs) rs1974295317
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.2968+1G>A
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp) rs370474706
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter) rs1974009894
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs) rs2473974445
NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs) rs2473974398
NM_000092.5(COL4A4):c.3013G>A (p.Gly1005Arg)
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter) rs746105339
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter) rs2473972925
NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs) rs2473972556
NM_000092.5(COL4A4):c.3052G>A (p.Gly1018Ser)
NM_000092.5(COL4A4):c.3052G>C (p.Gly1018Arg)
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter) rs1244937877
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter) rs1973992894
NM_000092.5(COL4A4):c.3071_3074del (p.Gly1024fs)
NM_000092.5(COL4A4):c.3073CCT[3] (p.Pro1026_Gly1027insPro) rs2473970855
NM_000092.5(COL4A4):c.3080G>T (p.Gly1027Val)
NM_000092.5(COL4A4):c.3086del (p.Pro1029fs)
NM_000092.5(COL4A4):c.3087del (p.Gly1030fs)
NM_000092.5(COL4A4):c.3098G>A (p.Gly1033Asp)
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter) rs1576129421
NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs) rs2473967532
NM_000092.5(COL4A4):c.3142G>T (p.Gly1048Cys) rs2473967144
NM_000092.5(COL4A4):c.3151-2A>G rs1369097739
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala) rs1973765207
NM_000092.5(COL4A4):c.3161G>T (p.Gly1054Val)
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs) rs2473939910
NM_000092.5(COL4A4):c.3178G>C (p.Gly1060Arg)
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter) rs2473939660
NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs) rs2473939208
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) rs1333536476
NM_000092.5(COL4A4):c.3197G>T (p.Gly1066Val)
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu) rs2150172344
NM_000092.5(COL4A4):c.3213_3214+3del
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3214+1G>T rs747167770
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter) rs1973140216
NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs) rs2473865757
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter) rs1973132502
NM_000092.5(COL4A4):c.3262G>A (p.Gly1088Ser) rs2473864723
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val) rs2150149041
NM_000092.5(COL4A4):c.327+1_327+5del rs2476235922
NM_000092.5(COL4A4):c.328-1G>A rs754669149
NM_000092.5(COL4A4):c.3281del (p.Gly1094fs) rs2473863644
NM_000092.5(COL4A4):c.3289+1G>C rs1973128133
NM_000092.5(COL4A4):c.3290-2A>C
NM_000092.5(COL4A4):c.3297del (p.Phe1099fs) rs2473720581
NM_000092.5(COL4A4):c.3310_3313dup (p.Gln1105fs) rs1971796422
NM_000092.5(COL4A4):c.3312del (p.Glu1104fs) rs2473719440
NM_000092.5(COL4A4):c.3313del (p.Gln1105fs)
NM_000092.5(COL4A4):c.3316G>A (p.Gly1106Ser)
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter) rs2473718276
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter) rs1971792460
NM_000092.5(COL4A4):c.3352G>A (p.Gly1118Arg)
NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val) rs2473714807
NM_000092.5(COL4A4):c.3398-1G>C
NM_000092.5(COL4A4):c.3415G>C (p.Gly1139Arg)
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter) rs2473692907
NM_000092.5(COL4A4):c.3424_3425del (p.Gly1142fs)
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter) rs1971610561
NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs) rs2473691099
NM_000092.5(COL4A4):c.3469G>C (p.Gly1157Arg)
NM_000092.5(COL4A4):c.3470G>A (p.Gly1157Glu)
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp) rs1559480099
NM_000092.5(COL4A4):c.3497G>A (p.Gly1166Glu)
NM_000092.5(COL4A4):c.3506-13_3528del rs2149993330
NM_000092.5(COL4A4):c.3514G>T (p.Gly1172Ter) rs1364773011
NM_000092.5(COL4A4):c.3515G>T (p.Gly1172Val)
NM_000092.5(COL4A4):c.3519_3526dup (p.Leu1176fs)
NM_000092.5(COL4A4):c.3523G>C (p.Gly1175Arg)
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg) rs1968850188
NM_000092.5(COL4A4):c.3560G>C (p.Gly1187Ala) rs1197476541
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter) rs1968848668
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.3577+2T>G
NM_000092.5(COL4A4):c.3578-2A>C
NM_000092.5(COL4A4):c.3585_3588dup (p.Val1197Ter) rs2473357313
NM_000092.5(COL4A4):c.3594del (p.Pro1199fs) rs1968590611
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg) rs1968585119
NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs) rs2473355271
NM_000092.5(COL4A4):c.3636_3637del (p.Gly1213fs) rs2473354582
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.5(COL4A4):c.3679G>C (p.Gly1227Arg)
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys) rs781360383
NM_000092.5(COL4A4):c.3689G>C (p.Gly1230Ala) rs1968566020
NM_000092.5(COL4A4):c.3689G>T (p.Gly1230Val)
NM_000092.5(COL4A4):c.3697G>C (p.Gly1233Arg)
NM_000092.5(COL4A4):c.3698G>C (p.Gly1233Ala)
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3715G>A (p.Gly1239Arg)
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala) rs1394140383
NM_000092.5(COL4A4):c.3719del (p.Pro1240fs) rs2473343738
NM_000092.5(COL4A4):c.372+2T>G rs1553696207
NM_000092.5(COL4A4):c.3722_3740del (p.Pro1241fs)
NM_000092.5(COL4A4):c.3724G>A (p.Gly1242Ser)
NM_000092.5(COL4A4):c.3755del (p.Lys1252fs) rs2473342112
NM_000092.5(COL4A4):c.3787C>T (p.Gln1263Ter)
NM_000092.5(COL4A4):c.3809G>A (p.Gly1270Asp)
NM_000092.5(COL4A4):c.3827G>A (p.Gly1276Glu)
NM_000092.5(COL4A4):c.3836G>T (p.Gly1279Val) rs1968071233
NM_000092.5(COL4A4):c.383_398del (p.Gly128fs)
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3901G>C (p.Gly1301Arg)
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.3955G>A (p.Gly1319Arg)
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.3973+1G>T rs755478262
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.5(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.5(COL4A4):c.401G>A (p.Gly134Asp)
NM_000092.5(COL4A4):c.4027G>A (p.Gly1343Arg)
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser) rs770838029
NM_000092.5(COL4A4):c.4045G>A (p.Gly1349Arg) rs2149924555
NM_000092.5(COL4A4):c.4046G>T (p.Gly1349Val)
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4079del (p.Pro1360fs) rs1967312678
NM_000092.5(COL4A4):c.4080_4081+1delinsAGT
NM_000092.5(COL4A4):c.4081G>T (p.Gly1361Cys)
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.5(COL4A4):c.4091-1G>A
NM_000092.5(COL4A4):c.4091-8_4092del rs2473010935
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter) rs2149854376
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter) rs2473008834
NM_000092.5(COL4A4):c.412dup (p.Met138fs) rs2125000621
NM_000092.5(COL4A4):c.4151dup (p.Pro1385fs) rs2473007651
NM_000092.5(COL4A4):c.4157G>A (p.Gly1386Asp)
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg) rs200645919
NM_000092.5(COL4A4):c.4192G>A (p.Gly1398Arg) rs2473005339
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter) rs2473003981
NM_000092.5(COL4A4):c.4271G>A (p.Gly1424Glu) rs2472735687
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs) rs2472735627
NM_000092.5(COL4A4):c.4279G>A (p.Gly1427Arg) rs2472735253
NM_000092.5(COL4A4):c.4287del (p.Gly1430fs)
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser) rs1963887200
NM_000092.5(COL4A4):c.4315G>T (p.Gly1439Cys)
NM_000092.5(COL4A4):c.4324G>C (p.Gly1442Arg)
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter) rs1963884904
NM_000092.5(COL4A4):c.4333+2T>C rs755927061
NM_000092.5(COL4A4):c.4333+2T>G
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del) rs2149745228
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg) rs1963420059
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter) rs2472680030
NM_000092.5(COL4A4):c.4399del (p.Leu1467fs) rs2472679125
NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter) rs774471575
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4483_4484del (p.Tyr1495fs)
NM_000092.5(COL4A4):c.4523-116C>T
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs) rs2149722718
NM_000092.5(COL4A4):c.458G>A (p.Gly153Glu)
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4645dup (p.Leu1549fs)
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs) rs2149721718
NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs) rs2149720724
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs) rs1206142672
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser) rs2472603497
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg) rs2472603497
NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr) rs2472603434
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.4809+1G>A rs1553612309
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.5(COL4A4):c.487dup (p.Leu163fs) rs2476136983
NM_000092.5(COL4A4):c.489+2T>C
NM_000092.5(COL4A4):c.490-6T>G
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp) rs2061397001
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg) rs1479278183
NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg) rs2061396039
NM_000092.5(COL4A4):c.509G>A (p.Gly170Glu)
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter) rs1351388457
NM_000092.5(COL4A4):c.558+1del
NM_000092.5(COL4A4):c.560G>T (p.Gly187Val)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.594+1G>C
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.5(COL4A4):c.604G>A (p.Gly202Ser)
NM_000092.5(COL4A4):c.604G>T (p.Gly202Cys)
NM_000092.5(COL4A4):c.605G>A (p.Gly202Asp)
NM_000092.5(COL4A4):c.623G>A (p.Gly208Asp)
NM_000092.5(COL4A4):c.623G>T (p.Gly208Val)
NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter) rs2475811047
NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.5(COL4A4):c.657+1G>T rs1553688696
NM_000092.5(COL4A4):c.658-1G>C
NM_000092.5(COL4A4):c.659G>A (p.Gly220Glu)
NM_000092.5(COL4A4):c.662del (p.Pro221fs)
NM_000092.5(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.5(COL4A4):c.676G>A (p.Gly226Arg) rs2475786944
NM_000092.5(COL4A4):c.685G>A (p.Gly229Ser)
NM_000092.5(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.5(COL4A4):c.710del (p.Gly237fs) rs2060994755
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) rs2060994526
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter) rs2475772649
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala) rs2060993539
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala) rs1559631986
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala) rs760795817
NM_000092.5(COL4A4):c.75_76del (p.Leu26fs) rs2477162674
NM_000092.5(COL4A4):c.816+4A>G
NM_000092.5(COL4A4):c.818G>A (p.Gly273Asp)
NM_000092.5(COL4A4):c.818del
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu) rs2060622881
NM_000092.5(COL4A4):c.838del (p.Met280fs)
NM_000092.5(COL4A4):c.845G>A (p.Gly282Glu)
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu) rs2060621902
NM_000092.5(COL4A4):c.870+1G>C
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg) rs757578262
NM_000092.5(COL4A4):c.903dup (p.Gly302fs) rs1559628183
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter) rs1045939403
NM_000092.5(COL4A4):c.914G>T (p.Gly305Val)
NM_000092.5(COL4A4):c.930+1G>A rs2150787516
NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys) rs2475551311
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) rs1005389790
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter) rs34509421
NM_000092.5(COL4A4):c.967G>T (p.Gly323Ter)
NM_000092.5(COL4A4):c.975+1G>C rs1553683192
NM_000092.5(COL4A4):c.975G>T (p.Lys325Asn)
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg) rs2060521689
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter) rs2060521689
NM_000092.5(COL4A4):c.995G>C (p.Gly332Ala)
NM_000092.5(COL4A4):c.995G>T (p.Gly332Val) rs2060521579
NM_000169.3(GLA):c.504A>C (p.Lys168Asn) rs2147477422
NM_000186.4(CFH):c.1337-2A>G
NM_000186.4(CFH):c.139del (p.Gln47fs)
NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.2236+1G>C rs1274067311
NM_000186.4(CFH):c.2517C>A (p.Cys839Ter) rs1362306576
NM_000186.4(CFH):c.2602dup (p.Ile868fs) rs2149113459
NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer) rs2529549247
NM_000186.4(CFH):c.3322A>T (p.Lys1108Ter) rs2149117986
NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)
NM_000186.4(CFH):c.3548G>T (p.Trp1183Leu) rs2149118700
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter) rs121913051
NM_000186.4(CFH):c.39G>A (p.Trp13Ter)
NM_000186.4(CFH):c.620-2A>G
NM_000186.4(CFH):c.672G>T (p.Lys224Asn) rs1408473510
NM_000186.4(CFH):c.694C>T (p.Arg232Ter) rs755790570
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000245.4(MET):c.3503T>G (p.Phe1168Cys)
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu) rs1057521742
NM_000276.4(OCRL):c.1050del (p.Met352fs) rs2521889385
NM_000276.4(OCRL):c.1057-2_1057-1del rs2521889771
NM_000276.4(OCRL):c.108del (p.Asn36fs) rs2521838917
NM_000276.4(OCRL):c.111del (p.Gln38fs) rs2521838949
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.1244+1G>A rs1936163310
NM_000276.4(OCRL):c.1457G>A (p.Trp486Ter)
NM_000276.4(OCRL):c.1466+1G>A rs1936229983
NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln) rs2521906115
NM_000276.4(OCRL):c.1490G>A (p.Trp497Ter) rs2521906131
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1580T>A (p.Val527Asp) rs2521906486
NM_000276.4(OCRL):c.1713+1G>A rs2521918360
NM_000276.4(OCRL):c.1713+2T>C rs2124417909
NM_000276.4(OCRL):c.1714-2A>G rs2521920142
NM_000276.4(OCRL):c.1753G>T (p.Glu585Ter)
NM_000276.4(OCRL):c.1780C>T (p.Gln594Ter) rs2521920349
NM_000276.4(OCRL):c.1879+2T>G rs2521920631
NM_000276.4(OCRL):c.187_199+449del rs1556338810
NM_000276.4(OCRL):c.1927_1928del (p.Val643fs)
NM_000276.4(OCRL):c.2051_2055delinsCTA (p.Leu684fs) rs2521922221
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter) rs2124419087
NM_000276.4(OCRL):c.2115+1G>C
NM_000276.4(OCRL):c.2136_2139delinsCT (p.Glu712fs)
NM_000276.4(OCRL):c.2139+1G>A
NM_000276.4(OCRL):c.2209G>A (p.Glu737Lys) rs2521943150
NM_000276.4(OCRL):c.2256+1G>T rs2124428298
NM_000276.4(OCRL):c.238_238+1del rs2521855742
NM_000276.4(OCRL):c.2470-1G>A rs1602820970
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr) rs2124430527
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro) rs2124430527
NM_000276.4(OCRL):c.2582-1G>C rs398123289
NM_000276.4(OCRL):c.300del (p.Asp100fs) rs2521873170
NM_000276.4(OCRL):c.349+2T>G rs2521873405
NM_000276.4(OCRL):c.533del (p.Pro178fs) rs1602782082
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000276.4(OCRL):c.561-1G>A
NM_000276.4(OCRL):c.577_578del (p.Glu193fs) rs2521878560
NM_000276.4(OCRL):c.722G>C (p.Arg241Thr) rs2521879319
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter) rs1936131926
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) rs1602783564
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys) rs2124404743
NM_000276.4(OCRL):c.953G>A (p.Arg318His) rs2124405779
NM_000276.4(OCRL):c.985A>T (p.Arg329Ter) rs2521889054
NM_000278.5(PAX2):c.166C>T (p.Arg56Trp)
NM_000278.5(PAX2):c.169C>T (p.Gln57Ter)
NM_000278.5(PAX2):c.175C>T (p.Arg59Trp) rs2133833948
NM_000278.5(PAX2):c.206T>C (p.Leu69Pro)
NM_000278.5(PAX2):c.212+1G>T rs2492893824
NM_000278.5(PAX2):c.212G>T (p.Arg71Met) rs104894170
NM_000278.5(PAX2):c.213-8C>A rs369615430
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg) rs79555199
NM_000278.5(PAX2):c.227G>A (p.Gly76Asp)
NM_000278.5(PAX2):c.239C>A (p.Pro80Gln) rs1554856032
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) rs1554856032
NM_000278.5(PAX2):c.253G>T (p.Gly85Cys)
NM_000278.5(PAX2):c.254G>T (p.Gly85Val) rs2133836347
NM_000278.5(PAX2):c.275C>T (p.Thr92Met) rs1845411121
NM_000278.5(PAX2):c.358dup (p.Ala120fs) rs2492899996
NM_000278.5(PAX2):c.388C>T (p.Pro130Ser) rs1054215531
NM_000278.5(PAX2):c.419G>T (p.Arg140Leu) rs865906227
NM_000278.5(PAX2):c.43+1G>T
NM_000278.5(PAX2):c.43+5G>A rs878853000
NM_000278.5(PAX2):c.483del (p.Gly162fs) rs2133894273
NM_000278.5(PAX2):c.576del (p.Ile193fs) rs2133897844
NM_000278.5(PAX2):c.617-1G>T
NM_000278.5(PAX2):c.70G>A (p.Gly24Arg) rs1845366198
NM_000278.5(PAX2):c.70G>C (p.Gly24Arg) rs1845366198
NM_000278.5(PAX2):c.71G>T (p.Gly24Val) rs201239919
NM_000278.5(PAX2):c.725_728dup (p.Val244fs)
NM_000278.5(PAX2):c.74G>A (p.Gly25Glu)
NM_000278.5(PAX2):c.763C>T (p.Gln255Ter)
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.791del (p.Gln264fs) rs2133950639
NM_000278.5(PAX2):c.845C>A (p.Ser282Ter)
NM_000278.5(PAX2):c.869del (p.Pro290fs) rs2133956351
NM_000278.5(PAX2):c.92G>C (p.Arg31Pro) rs2492892819
NM_000278.5(PAX2):c.952del (p.Tyr318fs)
NM_000278.5(PAX2):c.959dup (p.His321fs)
NM_000278.5(PAX2):c.961delinsTA (p.His321Ter)
NM_000278.5(PAX2):c.97C>G (p.Leu33Val)
NM_000278.5(PAX2):c.983G>T (p.Gly328Val)
NM_000280.4:c.1267A>T
NM_000297.4(PKD2):c.1026del (p.Glu343fs) rs2475901733
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn) rs1485588385
NM_000297.4(PKD2):c.1034A>G (p.Tyr345Cys) rs2475901770
NM_000297.4(PKD2):c.1040del (p.Val347fs)
NM_000297.4(PKD2):c.1066del (p.Ala356fs)
NM_000297.4(PKD2):c.1094+1G>T
NM_000297.4(PKD2):c.1094+1del rs2110107353
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1095-1G>T rs2475915207
NM_000297.4(PKD2):c.1098del (p.Ala365_Trp366insTer)
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys) rs2110112018
NM_000297.4(PKD2):c.1115_1116del (p.Lys372fs)
NM_000297.4(PKD2):c.1116del (p.Asp373fs) rs2110112037
NM_000297.4(PKD2):c.1116dup (p.Asp373fs) rs2110112037
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs) rs1726227364
NM_000297.4(PKD2):c.1128TAG[1] (p.Ser378del)
NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal) rs2475916117
NM_000297.4(PKD2):c.1256C>T (p.Thr419Ile)
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1390del (p.Arg464fs) rs1727786451
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000297.4(PKD2):c.1549-2A>T
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000297.4(PKD2):c.1645dup (p.Glu549fs) rs2475941629
NM_000297.4(PKD2):c.1709G>A (p.Trp570Ter)
NM_000297.4(PKD2):c.1716+1G>A
NM_000297.4(PKD2):c.1717-3C>G
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro) rs1445590170
NM_000297.4(PKD2):c.1807dup (p.Met603fs) rs1578141765
NM_000297.4(PKD2):c.182_206dup (p.Ala71fs)
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr) rs1216272782
NM_000297.4(PKD2):c.1967del (p.Leu656fs)
NM_000297.4(PKD2):c.1984A>C (p.Thr662Pro)
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) rs1720430638
NM_000297.4(PKD2):c.2019+1G>C
NM_000297.4(PKD2):c.2019+5G>A rs1578142944
NM_000297.4(PKD2):c.2019G>A (p.Leu673=)
NM_000297.4(PKD2):c.2020-2A>G rs2475970000
NM_000297.4(PKD2):c.2020-5A>G rs2110133917
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu) rs2110134005
NM_000297.4(PKD2):c.2074del (p.Ala692fs)
NM_000297.4(PKD2):c.2080C>T (p.Gln694Ter)
NM_000297.4(PKD2):c.2115_2118del (p.Lys706fs)
NM_000297.4(PKD2):c.2118+2T>C rs2475970459
NM_000297.4(PKD2):c.2119-1G>T
NM_000297.4(PKD2):c.2178dup (p.Glu727fs) rs2475979108
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.2241-2_2241-1insTT
NM_000297.4(PKD2):c.2241-6_2243del
NM_000297.4(PKD2):c.2247_2248insA (p.His750fs)
NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs) rs2475980887
NM_000297.4(PKD2):c.2358+5G>A rs1720774022
NM_000297.4(PKD2):c.2387T>G (p.Leu796Ter)
NM_000297.4(PKD2):c.2522+1G>A
NM_000297.4(PKD2):c.2522+1G>T rs2475986943
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) rs1578153598
NM_000297.4(PKD2):c.2638del (p.Val880fs)
NM_000297.4(PKD2):c.2649del (p.Arg883fs) rs2476009603
NM_000297.4(PKD2):c.2662del (p.Val888fs)
NM_000297.4(PKD2):c.2670+5G>A
NM_000297.4(PKD2):c.2671-2A>G
NM_000297.4(PKD2):c.2814del (p.Gln938fs) rs2476011907
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter) rs1578111378
NM_000297.4(PKD2):c.41del (p.Asp14fs) rs1474473957
NM_000297.4(PKD2):c.478C>T (p.Gln160Ter)
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.635_647del (p.Asn212fs)
NM_000297.4(PKD2):c.690del (p.Leu231fs) rs2475869442
NM_000297.4(PKD2):c.691dup (p.Leu231fs) rs1553924174
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer) rs1578118371
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000297.4(PKD2):c.844-1G>A
NM_000297.4(PKD2):c.860T>C (p.Leu287Ser) rs1727413505
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys) rs1560608538
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000297.4(PKD2):c.982_984del (p.Asn328del) rs1727421192
NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr) rs1578130536
NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu) rs2107040144
NM_000336.3(SCNN1B):c.1054C>T (p.Gln352Ter)
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter) rs1182475940
NM_000336.3(SCNN1B):c.1074C>G (p.Tyr358Ter)
NM_000336.3(SCNN1B):c.1212C>A (p.Tyr404Ter)
NM_000336.3(SCNN1B):c.1228del (p.Arg410fs)
NM_000336.3(SCNN1B):c.1312_1315del (p.Glu438fs)
NM_000336.3(SCNN1B):c.1314_1315del (p.Glu438fs)
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) rs387906402
NM_000336.3(SCNN1B):c.1847dup (p.Pro617fs)
NM_000336.3(SCNN1B):c.1849C>A (p.Pro617Thr)
NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser) rs137852708
NM_000336.3(SCNN1B):c.653G>A (p.Trp218Ter)
NM_000336.3(SCNN1B):c.655T>G (p.Tyr219Asp)
NM_000336.3(SCNN1B):c.964G>T (p.Glu322Ter)
NM_000338.3(SLC12A1):c.1087+1G>A
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu) rs2505058115
NM_000338.3(SLC12A1):c.1190del (p.Gly397fs)
NM_000338.3(SLC12A1):c.1301-2A>G
NM_000338.3(SLC12A1):c.1315C>T (p.Arg439Ter) rs758291275
NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr) rs1555466999
NM_000338.3(SLC12A1):c.1483del (p.Leu495fs)
NM_000338.3(SLC12A1):c.1529C>A (p.Ala510Asp)
NM_000338.3(SLC12A1):c.1560+1G>A
NM_000338.3(SLC12A1):c.1631_1652del (p.Pro544fs)
NM_000338.3(SLC12A1):c.1663G>A (p.Ala555Thr) rs2505087791
NM_000338.3(SLC12A1):c.1679T>C (p.Leu560Pro) rs1370120380
NM_000338.3(SLC12A1):c.1684+1G>A rs2505087861
NM_000338.3(SLC12A1):c.1685-2A>G rs1465842300
NM_000338.3(SLC12A1):c.1687dup (p.Glu563fs) rs865973286
NM_000338.3(SLC12A1):c.1787-1G>A
NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg) rs2041650191
NM_000338.3(SLC12A1):c.1927del (p.Thr643fs) rs2141064916
NM_000338.3(SLC12A1):c.1953G>A (p.Trp651Ter)
NM_000338.3(SLC12A1):c.2008_2011del (p.Leu670fs)
NM_000338.3(SLC12A1):c.2047C>T (p.Gln683Ter) rs1273695811
NM_000338.3(SLC12A1):c.2154+1G>A
NM_000338.3(SLC12A1):c.2190_2193del (p.Ser730fs)
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) rs758961147
NM_000338.3(SLC12A1):c.2402+2T>A
NM_000338.3(SLC12A1):c.2584A>T (p.Lys862Ter) rs1318795841
NM_000338.3(SLC12A1):c.2719delinsCA (p.Glu907fs) rs2505190299
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter) rs2042079691
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs) rs776749406
NM_000338.3(SLC12A1):c.2834_2873+12del rs1566857461
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs) rs764247288
NM_000338.3(SLC12A1):c.2873+1G>C
NM_000338.3(SLC12A1):c.2873_2873+1delinsCGTT
NM_000338.3(SLC12A1):c.3046_3047del (p.Glu1016fs)
NM_000338.3(SLC12A1):c.421-1G>A rs2041199779
NM_000338.3(SLC12A1):c.450_451del (p.Asp150fs) rs1413414501
NM_000338.3(SLC12A1):c.572T>A (p.Ile191Asn) rs2505026929
NM_000338.3(SLC12A1):c.595C>G (p.Arg199Gly) rs780448089
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_000338.3(SLC12A1):c.847_848del (p.Val283fs) rs1567311211
NM_000338.3(SLC12A1):c.975+2T>C rs201696514
NM_000339.2:c.(?_-30)_885del
NM_000341.4(SLC3A1):c.1011+3A>G rs1206425661
NM_000341.4(SLC3A1):c.1012-9_1012del rs2104364101
NM_000341.4(SLC3A1):c.1060C>T (p.Gln354Ter)
NM_000341.4(SLC3A1):c.1091T>C (p.Phe364Ser)
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) rs567478582
NM_000341.4(SLC3A1):c.1094G>C (p.Arg365Pro)
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly) rs2465939469
NM_000341.4(SLC3A1):c.1134C>G (p.Tyr378Ter)
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter) rs374750983
NM_000341.4(SLC3A1):c.1190A>G (p.Tyr397Cys)
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys) rs1672093819
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys) rs2465949850
NM_000341.4(SLC3A1):c.1364C>T (p.Ser455Leu)
NM_000341.4(SLC3A1):c.1366C>T (p.Arg456Cys)
NM_000341.4(SLC3A1):c.1373G>A (p.Gly458Glu)
NM_000341.4(SLC3A1):c.1373G>T (p.Gly458Val)
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1401G>C (p.Met467Ile)
NM_000341.4(SLC3A1):c.1409dup (p.Thr471fs)
NM_000341.4(SLC3A1):c.1432A>C (p.Thr478Pro)
NM_000341.4(SLC3A1):c.1437C>G (p.Tyr479Ter)
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.1617+1G>A
NM_000341.4(SLC3A1):c.1617+1dup rs2104385579
NM_000341.4(SLC3A1):c.1617+5G>A
NM_000341.4(SLC3A1):c.1617+5G>T
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu) rs368796166
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs) rs2466021042
NM_000341.4(SLC3A1):c.1820del (p.Leu607fs) rs761211666
NM_000341.4(SLC3A1):c.183del (p.Val62fs) rs2466668103
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys) rs1484579709
NM_000341.4(SLC3A1):c.1993A>T (p.Arg665Ter)
NM_000341.4(SLC3A1):c.2014_2015delinsTA (p.Ala672Ter)
NM_000341.4(SLC3A1):c.2017T>G (p.Cys673Gly)
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro) rs121912693
NM_000341.4(SLC3A1):c.283G>A (p.Ala95Thr)
NM_000341.4(SLC3A1):c.430+1G>A
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_000341.4(SLC3A1):c.431-3_464delinsTAAATATA
NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter) rs1249821286
NM_000341.4(SLC3A1):c.503C>A (p.Ser168Ter) rs200001778
NM_000341.4(SLC3A1):c.611-1G>A
NM_000341.4(SLC3A1):c.647C>A (p.Thr216Lys)
NM_000341.4(SLC3A1):c.665G>A (p.Trp222Ter)
NM_000341.4(SLC3A1):c.679C>T (p.Arg227Trp)
NM_000341.4(SLC3A1):c.765+1G>T
NM_000341.4(SLC3A1):c.809G>T (p.Arg270Leu)
NM_000341.4(SLC3A1):c.891+2T>C rs2104342335
NM_000341.4(SLC3A1):c.891+4A>G rs2465902056
NM_000341.4(SLC3A1):c.899del (p.Leu300fs) rs1671960904
NM_000341.4(SLC3A1):c.907T>C (p.Trp303Arg)
NM_000341.4(SLC3A1):c.909G>A (p.Trp303Ter)
NM_000341.4(SLC3A1):c.928G>A (p.Gly310Ser)
NM_000341.4(SLC3A1):c.960_961insTC (p.Glu321fs)
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1816G>A (p.Gly606Arg) rs575655181
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter) rs2144601189
NM_000342.4(SLC4A1):c.2453A>G (p.Tyr818Cys)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2712C>G (p.Tyr904Ter) rs45519733
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000342.4(SLC4A1):c.349+1G>C rs1567834739
NM_000343.4(SLC5A1):c.767_771del (p.Tyr256fs)
NM_000458.4(HNF1B):c.1000_1001insA (p.Ser334fs)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro) rs1282596664
NM_000458.4(HNF1B):c.1056_1057del (p.Tyr352_Ser353delinsTer)
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs) rs2511723972
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.1406_1413del (p.Leu469fs)
NM_000458.4(HNF1B):c.33_34del (p.Glu11fs)
NM_000458.4(HNF1B):c.345-2A>G rs2511830105
NM_000458.4(HNF1B):c.381_382del (p.Tyr128fs)
NM_000458.4(HNF1B):c.454C>T (p.Gln152Ter)
NM_000458.4(HNF1B):c.458A>G (p.His153Arg) rs1598848762
NM_000458.4(HNF1B):c.514del (p.Tyr172fs)
NM_000458.4(HNF1B):c.521_527del (p.Arg174fs)
NM_000458.4(HNF1B):c.538_541del (p.Leu180fs)
NM_000458.4(HNF1B):c.544+1G>A rs1568670479
NM_000458.4(HNF1B):c.558_561del (p.Val187fs)
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp) rs2511801868
NM_000458.4(HNF1B):c.891C>A (p.Tyr297Ter)
NM_000458.4(HNF1B):c.908G>A (p.Arg303His) rs2033692404
NM_000486.6(AQP2):c.127C>T (p.Gln43Ter) rs1481158831
NM_000486.6(AQP2):c.170A>C (p.Gln57Pro) rs28931580
NM_000486.6(AQP2):c.223T>G (p.Cys75Gly) rs193922494
NM_000486.6(AQP2):c.267C>A (p.Tyr89Ter)
NM_000486.6(AQP2):c.298G>A (p.Gly100Arg) rs1303076207
NM_000486.6(AQP2):c.337C>T (p.Arg113Cys)
NM_000486.6(AQP2):c.389C>T (p.Ala130Val)
NM_000486.6(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000486.6(AQP2):c.479del (p.Pro160fs)
NM_000486.6(AQP2):c.526-1G>A
NM_000486.6(AQP2):c.526-1G>T rs749468605
NM_000486.6(AQP2):c.553C>G (p.Pro185Ala)
NM_000486.6(AQP2):c.563C>T (p.Ser188Phe) rs1131690792
NM_000486.6(AQP2):c.568G>A (p.Ala190Thr) rs104894341
NM_000486.6(AQP2):c.646T>C (p.Ser216Pro) rs104894329
NM_000486.6(AQP2):c.707_720dup (p.Glu241delinsCysTer) rs752623874
NM_000486.6(AQP2):c.782del (p.Ser261fs)
NM_000486.6(AQP2):c.785del (p.Pro262fs) rs193922496
NM_000486.6(AQP2):c.814dup (p.Ter272LeuextTer?)
NM_000486.6(AQP2):c.97_119del (p.Asn33fs) rs772201159
NM_000490.5(AVP):c.120+1G>A
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) rs1057516192
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000490.5(AVP):c.262G>T (p.Gly88Cys) rs121964882
NM_000490.5(AVP):c.287G>A (p.Gly96Asp)
NM_000490.5(AVP):c.290G>A (p.Arg97His) rs2517100221
NM_000490.5(AVP):c.328T>A (p.Cys110Ser) rs2517099578
NM_000490.5(AVP):c.329G>A (p.Cys110Tyr) rs1057521601
NM_000495.5:c.(3373+1_3374-1)_(3790+1_3791-1)dup
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp) rs2146299968
NM_000516.7(GNAS):c.1039-1G>A rs2146304851
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.124dup (p.Arg42fs) rs2145916852
NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup) rs774711025
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) rs1600976255
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser) rs2146005656
NM_000516.7(GNAS):c.212+1_212+3del rs2146006354
NM_000516.7(GNAS):c.212+3_212+6del rs2089974938
NM_000516.7(GNAS):c.257+197_531-8del
NM_000516.7(GNAS):c.286A>G (p.Lys96Glu)
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) rs1569015549
NM_000516.7(GNAS):c.31_38del (p.Asp11fs)
NM_000516.7(GNAS):c.320T>G (p.Val107Gly) rs2146182293
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) rs2146183586
NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del) rs2146184726
NM_000516.7(GNAS):c.415_418del (p.Asp139fs) rs2517085502
NM_000516.7(GNAS):c.432+5G>A
NM_000516.7(GNAS):c.445_446del (p.His149fs)
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.470_472del (p.Glu157del) rs2146209517
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.585+1G>A rs2517227084
NM_000516.7(GNAS):c.658del (p.His220fs) rs2517241190
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) rs1272546759
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg) rs2146289554
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del) rs2091331588
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg) rs2517269338
NM_000516.7(GNAS):c.880C>T (p.Gln294Ter) rs863224876
NM_000537.4(REN):c.1079dup (p.Leu361fs)
NM_000537.4(REN):c.1172_1173del (p.Thr391fs)
NM_000537.4(REN):c.250-1del
NM_000537.4(REN):c.36GCT[3] (p.Leu16del) rs1571652012
NM_000537.4(REN):c.47T>A (p.Leu16His) rs121917743
NM_000537.4(REN):c.58T>C (p.Cys20Arg) rs1658347337
NM_000537.4(REN):c.799del (p.Trp267fs)
NM_000545.8(HNF1A):c.-64_-55delinsGC
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1555_1556dup (p.Gln520fs)
NM_000545.8(HNF1A):c.1575_1576delinsA (p.Asp526fs)
NM_000545.8(HNF1A):c.1715del (p.Pro572fs)
NM_000545.8(HNF1A):c.1720delinsGGCATCCAGCACCG (p.Ser574fs)
NM_000545.8(HNF1A):c.3G>A (p.Met1Ile)
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.245_260del (p.Pro82fs) rs2543629961
NM_000546.6(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.538G>T (p.Glu180Ter) rs879253911
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.652del (p.Val218fs) rs2543581992
NM_000546.6(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs) rs2543563213
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.722_724del (p.Ser241del) rs2543562338
NM_000546.6(TP53):c.722_728del (p.Ser241fs) rs2543561940
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.75-7_82delinsA rs2543642031
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.808T>C (p.Phe270Leu) rs1057519988
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.917_919+5delinsAGGA rs2543534408
NM_000546.6(TP53):c.993+1G>T rs11575997
NM_000546.6(TP53):c.993+2T>C rs1597359053
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.496_506del (p.Val166fs) rs869025663
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_000685.5(AGTR1):c.166del (p.Tyr56fs)
NM_000685.5(AGTR1):c.337dup (p.Tyr113fs)
NM_000685.5(AGTR1):c.340del (p.Ala114fs)
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter) rs1417391173
NM_000685.5(AGTR1):c.599dup (p.Asn200fs) rs1559934279
NM_000685.5(AGTR1):c.696_700del (p.Pro233fs) rs2107975487
NM_000685.5(AGTR1):c.879del (p.Phe293fs) rs2107975850
NM_000701.8(ATP1A1):c.2590G>A (p.Gly864Arg)
NM_000701.8(ATP1A1):c.2660G>A (p.Arg887Gln) rs2101066038
NM_000701.8(ATP1A1):c.821C>G (p.Ala274Gly) rs2525834257
NM_000789.4(ACE):c.1126C>T (p.Gln376Ter)
NM_000789.4(ACE):c.1433dup (p.Phe479fs)
NM_000789.4(ACE):c.1487+1G>A
NM_000789.4(ACE):c.1511del (p.Pro504fs) rs1568038811
NM_000789.4(ACE):c.1921+328T>C
NM_000789.4(ACE):c.2049C>A (p.Ser683Arg) rs148491967
NM_000789.4(ACE):c.2062C>T (p.Gln688Ter)
NM_000789.4(ACE):c.21_30del (p.Arg8fs)
NM_000789.4(ACE):c.2306-1G>C
NM_000789.4(ACE):c.232G>T (p.Glu78Ter) rs778615098
NM_000789.4(ACE):c.2467dup (p.Asp823fs)
NM_000789.4(ACE):c.24_51dup (p.Leu18fs)
NM_000789.4(ACE):c.250-1G>A
NM_000789.4(ACE):c.2585_2586del (p.Arg862fs)
NM_000789.4(ACE):c.2642-1G>A rs778390161
NM_000789.4(ACE):c.2T>A (p.Met1Lys)
NM_000789.4(ACE):c.2T>C (p.Met1Thr) rs1005792910
NM_000789.4(ACE):c.3262C>T (p.Gln1088Ter)
NM_000789.4(ACE):c.3296G>A (p.Gly1099Asp) rs775421383
NM_000789.4(ACE):c.3391del (p.Ser1131fs)
NM_000789.4(ACE):c.3503+1G>C rs779188587
NM_000789.4(ACE):c.3521del (p.Gly1174fs) rs754265941
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) rs900084108
NM_000789.4(ACE):c.3G>T (p.Met1Ile) rs2510680823
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000789.4(ACE):c.512-2A>G
NM_000789.4(ACE):c.798C>A (p.Tyr266Ter) rs121912704
NM_000789.4(ACE):c.798C>G (p.Tyr266Ter) rs121912704
NM_000789.4(ACE):c.945+2T>G rs2510686780
NM_000789.4(ACE):c.973del (p.Val325fs) rs2510687443
NM_000901.5(NR3C2):c.102del (p.Glu35fs) rs2126657667
NM_000901.5(NR3C2):c.1350del (p.Pro451fs) rs2531826011
NM_000901.5(NR3C2):c.1799C>A (p.Ser600Ter) rs2149871784
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_000901.5(NR3C2):c.2096del (p.Pro699fs) rs748573472
NM_000901.5(NR3C2):c.2453C>G (p.Ser818Trp)
NM_000901.5(NR3C2):c.2657T>A (p.Leu886His) rs1560928649
NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg) rs1560928649
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter) rs1553986377
NM_000901.5(NR3C2):c.2767C>T (p.Gln923Ter) rs1553986374
NM_001002295.2(GATA3):c.1050+2T>A rs1832899364
NM_001006657.2(WDR35):c.1195-2A>T rs2527924479
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.10051-1G>T rs1245329669
NM_001009944.3(PKD1):c.10051-2A>G
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter) rs373222937
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10220+1G>C
NM_001009944.3(PKD1):c.10233G>A (p.Trp3411Ter) rs1300254603
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10405G>A (p.Asp3469Asn)
NM_001009944.3(PKD1):c.10441del (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.10441dup (p.Val3481fs) rs2091884240
NM_001009944.3(PKD1):c.10619-1G>A rs1567159074
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg) rs2091727215
NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu) rs2544650057
NM_001009944.3(PKD1):c.10804G>C (p.Gly3602Arg)
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys) rs2091722550
NM_001009944.3(PKD1):c.10821+1G>A rs1596488823
NM_001009944.3(PKD1):c.10821+2T>G
NM_001009944.3(PKD1):c.10822-2A>G rs2151707926
NM_001009944.3(PKD1):c.10822-3C>G rs2544648778
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr) rs2091706456
NM_001009944.3(PKD1):c.10946C>G (p.Pro3649Arg) rs2091706289
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val) rs2544646868
NM_001009944.3(PKD1):c.11016+1G>C
NM_001009944.3(PKD1):c.11016+2T>C
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-1G>C
NM_001009944.3(PKD1):c.11017-25A>C rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G rs2151704874
NM_001009944.3(PKD1):c.11017-47_11022del rs2091672168
NM_001009944.3(PKD1):c.11028_11035dup (p.Leu3679fs)
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs) rs1596485991
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter) rs745912756
NM_001009944.3(PKD1):c.11122_11156+1del
NM_001009944.3(PKD1):c.11156+1G>A
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) rs866331895
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro) rs1327414405
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) rs1567154953
NM_001009944.3(PKD1):c.11253G>T (p.Gln3751His) rs2544631346
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly) rs1167476946
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11269+1G>T rs2544631133
NM_001009944.3(PKD1):c.11270-1G>T
NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs) rs2151699891
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs) rs2091620612
NM_001009944.3(PKD1):c.112del (p.Leu38fs) rs2092941002
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs) rs1555446053
NM_001009944.3(PKD1):c.11308_11312dup (p.Ala3773fs)
NM_001009944.3(PKD1):c.1132C>T (p.Gln378Ter) rs2544877617
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del) rs2091618795
NM_001009944.3(PKD1):c.11341_11343del (p.Tyr3781del) rs2091619119
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp) rs2091618553
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs) rs2091616873
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys) rs138629093
NM_001009944.3(PKD1):c.11411+1G>C rs2091612821
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.11411+2T>C
NM_001009944.3(PKD1):c.11412-2A>G
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly) rs2091602155
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11452G>C (p.Gly3818Arg)
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11453G>T (p.Gly3818Val)
NM_001009944.3(PKD1):c.11453del (p.Gly3818fs) rs1567153194
NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs) rs2544620365
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg) rs1057518959
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His) rs2151697614
NM_001009944.3(PKD1):c.11537+2T>A rs2151697557
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11565_11571dup (p.Ser3858fs) rs2091579496
NM_001009944.3(PKD1):c.11595_11605dup (p.Leu3869fs)
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.11615A>T (p.Glu3872Val)
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs) rs2151695288
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro) rs773875298
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs) rs2151695275
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr) rs2151858290
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp) rs2091571469
NM_001009944.3(PKD1):c.11713-1G>T
NM_001009944.3(PKD1):c.11713-2A>T
NM_001009944.3(PKD1):c.11713-2_11718dup
NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs) rs2544600517
NM_001009944.3(PKD1):c.11765_11790dup (p.Leu3931fs) rs2544599608
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
NM_001009944.3(PKD1):c.11819_11828dup (p.Leu3944fs)
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro) rs1424496188
NM_001009944.3(PKD1):c.11888G>A (p.Trp3963Ter)
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
NM_001009944.3(PKD1):c.11962dup (p.Arg3988fs)
NM_001009944.3(PKD1):c.11987_11988insA (p.Phe3996fs)
NM_001009944.3(PKD1):c.12003+1G>C
NM_001009944.3(PKD1):c.12004-2A>C rs2091475604
NM_001009944.3(PKD1):c.1201+1G>A rs1596588978
NM_001009944.3(PKD1):c.1202-11C>G
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-2A>T rs2092662592
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12020G>A (p.Arg4007His)
NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs) rs2544588372
NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs) rs2544587268
NM_001009944.3(PKD1):c.12290dup (p.Ala4098fs)
NM_001009944.3(PKD1):c.12305_12324del (p.Gly4102fs)
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs) rs2091440547
NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
NM_001009944.3(PKD1):c.12445-1G>C
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12463T>C (p.Phe4155Leu)
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12554C>A (p.Ser4185Ter)
NM_001009944.3(PKD1):c.12609del (p.Leu4204fs)
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12624_12625dup (p.Glu4209fs)
NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
NM_001009944.3(PKD1):c.1265T>C (p.Leu422Pro) rs2092661241
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
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.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.12728_12756del (p.Leu4243fs)
NM_001009944.3(PKD1):c.12794del (p.Gly4265fs)
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe) rs2092660360
NM_001009944.3(PKD1):c.1312dup (p.Ala438fs) rs2544876023
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1396G>C (p.Val466Leu)
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro) rs1293305047
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs) rs2151820655
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp) rs1555458704
NM_001009944.3(PKD1):c.1548del (p.Trp516fs)
NM_001009944.3(PKD1):c.1606+5G>A rs2092646077
NM_001009944.3(PKD1):c.1606+5G>T
NM_001009944.3(PKD1):c.1607-2A>C rs2544870219
NM_001009944.3(PKD1):c.1620_1621del (p.Ala541fs)
NM_001009944.3(PKD1):c.1653_1654dup (p.Asp552fs) rs2151819777
NM_001009944.3(PKD1):c.1722+1G>T rs1567214706
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1723-1G>C rs1596582948
NM_001009944.3(PKD1):c.1830C>G (p.Tyr610Ter)
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val) rs781018494
NM_001009944.3(PKD1):c.2037del (p.Tyr680fs) rs2544860522
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.2069T>A (p.Val690Asp)
NM_001009944.3(PKD1):c.2078_2089dup (p.Ala696_Gln697insArgProProAla) rs2092614761
NM_001009944.3(PKD1):c.2081_2085dup (p.Ala696fs)
NM_001009944.3(PKD1):c.2093_2097+2del
NM_001009944.3(PKD1):c.2095T>C (p.Ser699Pro) rs2544860133
NM_001009944.3(PKD1):c.2096del (p.Ser699fs)
NM_001009944.3(PKD1):c.2097+1G>A rs2151816064
NM_001009944.3(PKD1):c.215+2T>G rs2544960078
NM_001009944.3(PKD1):c.215+5G>A
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.224C>T (p.Ser75Phe)
NM_001009944.3(PKD1):c.2262dup (p.Pro755fs) rs2544855475
NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser) rs2092686792
NM_001009944.3(PKD1):c.2427_2428del (p.His809fs)
NM_001009944.3(PKD1):c.2484C>A (p.Tyr828Ter) rs1402606705
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
NM_001009944.3(PKD1):c.2543A>C (p.Gln848Pro)
NM_001009944.3(PKD1):c.2558_2634del (p.Ala853fs)
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs) rs2092593686
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter) rs2151812964
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del) rs2092591934
NM_001009944.3(PKD1):c.2729_2730del (p.Asp910fs)
NM_001009944.3(PKD1):c.2730_2741del (p.Asp910_Val913del)
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro) rs2151826530
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.2865dup (p.Val956fs) rs2544845327
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs) rs2151809215
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly) rs2092684310
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del) rs2544885084
NM_001009944.3(PKD1):c.2985+2_2985+4del
NM_001009944.3(PKD1):c.3015_3032del (p.Asn1008_Val1013del)
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3034dup (p.Thr1012fs)
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3075del (p.Thr1026fs)
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3161+1G>T
NM_001009944.3(PKD1):c.3161+5G>C rs2092552533
NM_001009944.3(PKD1):c.3162-1G>C rs2544837759
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter) rs1596566550
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3218del (p.Glu1073fs) rs2544837286
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs) rs1596566156
NM_001009944.3(PKD1):c.3284A>G (p.Tyr1095Cys)
NM_001009944.3(PKD1):c.3295+1G>A
NM_001009944.3(PKD1):c.3296-4_3304del rs2544832042
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs) rs2544831329
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3466_3467dup (p.Leu1158fs)
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3538_3539del (p.Thr1180fs)
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.359+3A>T rs2151826018
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3665_3684delinsACATGA (p.Ala1222fs)
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del) rs2092503169
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala) rs2092501507
NM_001009944.3(PKD1):c.3777_3778del (p.Val1260fs) rs2544827855
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs) rs1596561773
NM_001009944.3(PKD1):c.380T>G (p.Phe127Cys) rs2092679766
NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro) rs2544827223
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr) rs1567202189
NM_001009944.3(PKD1):c.3982T>C (p.Trp1328Arg)
NM_001009944.3(PKD1):c.3984G>C (p.Trp1328Cys) rs2151799171
NM_001009944.3(PKD1):c.3999del (p.Ser1334fs)
NM_001009944.3(PKD1):c.4070T>C (p.Leu1357Pro) rs2151798827
NM_001009944.3(PKD1):c.415T>G (p.Trp139Gly)
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys) rs2544883148
NM_001009944.3(PKD1):c.4196G>A (p.Trp1399Ter) rs2092486975
NM_001009944.3(PKD1):c.4234T>G (p.Tyr1412Asp)
NM_001009944.3(PKD1):c.4240T>G (p.Trp1414Gly)
NM_001009944.3(PKD1):c.4241G>C (p.Trp1414Ser) rs2151798259
NM_001009944.3(PKD1):c.4264del (p.Ala1422fs) rs2544823557
NM_001009944.3(PKD1):c.4296_4298del (p.Phe1433del)
NM_001009944.3(PKD1):c.4321dup (p.Tyr1441fs)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly) rs2151797664
NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro) rs773746552
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg) rs2092478372
NM_001009944.3(PKD1):c.4511del (p.Asp1504fs)
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
NM_001009944.3(PKD1):c.458C>A (p.Ala153Asp) rs2092678870
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met) rs2544820023
NM_001009944.3(PKD1):c.4639dup (p.Arg1547fs)
NM_001009944.3(PKD1):c.4651del (p.Leu1551fs) rs2544819817
NM_001009944.3(PKD1):c.4696_4701del (p.Val1566_Ser1567del)
NM_001009944.3(PKD1):c.471_478dup (p.Ser160fs) rs2544882902
NM_001009944.3(PKD1):c.4746G>T (p.Trp1582Cys)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.4981_4983del (p.Asn1661del)
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del) rs1596556896
NM_001009944.3(PKD1):c.5115del (p.Ser1705fs) rs2544815125
NM_001009944.3(PKD1):c.5124_8016+1del
NM_001009944.3(PKD1):c.5130_5146dup (p.Glu1716fs)
NM_001009944.3(PKD1):c.5271del (p.Gly1757_Leu1758insTer)
NM_001009944.3(PKD1):c.529+1G>A
NM_001009944.3(PKD1):c.529+3G>C
NM_001009944.3(PKD1):c.529+5G>A rs2544882689
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter) rs2544812084
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val) rs2544812034
NM_001009944.3(PKD1):c.5515T>A (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5517G>A (p.Trp1839Ter)
NM_001009944.3(PKD1):c.5608A>C (p.Asn1870His)
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser) rs2544811132
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter) rs1567196052
NM_001009944.3(PKD1):c.5693dup (p.Val1899fs) rs1567195868
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.5936_5949del (p.Cys1979fs) rs2544807269
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6000_6001del (p.Arg2001fs) rs2544806868
NM_001009944.3(PKD1):c.6005T>A (p.Val2002Asp)
NM_001009944.3(PKD1):c.6124G>C (p.Ala2042Pro) rs556681288
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.6280T>G (p.Trp2094Gly)
NM_001009944.3(PKD1):c.628T>C (p.Cys210Arg) rs2544880665
NM_001009944.3(PKD1):c.6292G>A (p.Asp2098Asn)
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr) rs2092673697
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys) rs2092427197
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp) rs2151788281
NM_001009944.3(PKD1):c.6384C>A (p.Asn2128Lys)
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser) rs1567218351
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr) rs1596590574
NM_001009944.3(PKD1):c.6420del (p.Val2141fs) rs2544803187
NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer) rs2544801847
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter) rs2092673393
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
NM_001009944.3(PKD1):c.6656C>G (p.Pro2219Arg)
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6701T>A (p.Val2234Glu) rs2092417183
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del) rs2544800298
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs) rs1567191145
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.3(PKD1):c.6987_6988insATGGCGG (p.Leu2330fs) rs2544795860
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7065+2T>C
NM_001009944.3(PKD1):c.7065+2del
NM_001009944.3(PKD1):c.7075del (p.Arg2359fs) rs2092358825
NM_001009944.3(PKD1):c.7088_7095dup (p.Val2366fs)
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
NM_001009944.3(PKD1):c.7115C>G (p.Ser2372Cys) rs2544784984
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr) rs2544784938
NM_001009944.3(PKD1):c.7209+1G>A
NM_001009944.3(PKD1):c.7209+1G>C rs2544784172
NM_001009944.3(PKD1):c.7209_7209+1delinsTT rs2544784180
NM_001009944.3(PKD1):c.7215G>T (p.Trp2405Cys) rs2092347343
NM_001009944.3(PKD1):c.7250T>C (p.Leu2417Pro)
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln) rs2092344562
NM_001009944.3(PKD1):c.7298T>G (p.Leu2433Arg)
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7301_7312dup (p.Arg2434_Val2437dup) rs2092343785
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del) rs2092343570
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro) rs2544781523
NM_001009944.3(PKD1):c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG (p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly) rs2544781129
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg) rs2092338268
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr) rs2544780036
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7490-11C>G
NM_001009944.3(PKD1):c.7534del (p.Leu2512fs) rs2544778476
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg) rs2151772458
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.7584C>G (p.Tyr2528Ter)
NM_001009944.3(PKD1):c.7605C>A (p.Tyr2535Ter)
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs) rs2544777576
NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly) rs2544777388
NM_001009944.3(PKD1):c.7703+2T>A
NM_001009944.3(PKD1):c.7703+5G>C
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys) rs2092327300
NM_001009944.3(PKD1):c.7704-1G>A rs2544776487
NM_001009944.3(PKD1):c.7721_7724del (p.Leu2574fs) rs2544776290
NM_001009944.3(PKD1):c.7832_7835dup (p.Ala2614fs)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.7864-1G>A rs2092305301
NM_001009944.3(PKD1):c.7892_7911del (p.Glu2631fs)
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001009944.3(PKD1):c.7904dup (p.Arg2636fs) rs1596536873
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs) rs2151766800
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs) rs1596536546
NM_001009944.3(PKD1):c.8016+1G>A rs2544768869
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs) rs2092263697
NM_001009944.3(PKD1):c.8161+2_8161+3delinsGT
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8257_8260del (p.Tyr2753fs)
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer) rs2151756041
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del) rs1555451280
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro) rs2092204260
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8299_8310del (p.Arg2767_Asn2770del)
NM_001009944.3(PKD1):c.8299dup (p.Arg2767fs) rs2151755878
NM_001009944.3(PKD1):c.8300G>C (p.Arg2767Pro) rs770080914
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu) rs1456510041
NM_001009944.3(PKD1):c.8304_8326del (p.Leu2769fs)
NM_001009944.3(PKD1):c.8353G>C (p.Gly2785Arg) rs2151755659
NM_001009944.3(PKD1):c.8354G>A (p.Gly2785Asp) rs2544745312
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp) rs761060813
NM_001009944.3(PKD1):c.8426C>T (p.Pro2809Leu) rs2544744667
NM_001009944.3(PKD1):c.8447T>A (p.Leu2816Gln)
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.844_850del (p.Gly282fs)
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)
NM_001009944.3(PKD1):c.8554G>C (p.Ala2852Pro)
NM_001009944.3(PKD1):c.8555_8556del (p.Ala2852fs)
NM_001009944.3(PKD1):c.8558T>C (p.Phe2853Ser)
NM_001009944.3(PKD1):c.8606_8607del (p.Glu2869fs) rs2544742995
NM_001009944.3(PKD1):c.8734dup (p.Asp2912fs)
NM_001009944.3(PKD1):c.8757del (p.Leu2920fs) rs2544741352
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.8792-2A>C
NM_001009944.3(PKD1):c.8896G>T (p.Glu2966Ter) rs773129632
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs) rs2544737008
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser) rs1596523677
NM_001009944.3(PKD1):c.8948+1del
NM_001009944.3(PKD1):c.8949-2A>C
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.8971T>G (p.Tyr2991Asp)
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln) rs1555450487
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9045C>G (p.Cys3015Trp) rs1596522411
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg) rs2151750082
NM_001009944.3(PKD1):c.9097del (p.Leu3033fs)
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del) rs2544733084
NM_001009944.3(PKD1):c.9111_9132del (p.Arg3039fs)
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp) rs1057518856
NM_001009944.3(PKD1):c.9201+4A>G
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9202-1G>A rs2151748829
NM_001009944.3(PKD1):c.9335G>A (p.Cys3112Tyr)
NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter) rs1315416272
NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser) rs2092119998
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
NM_001009944.3(PKD1):c.9411C>G (p.His3137Gln) rs750132441
NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser) rs1165123201
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9430G>C (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9431G>A (p.Gly3144Glu)
NM_001009944.3(PKD1):c.9454C>G (p.Arg3152Gly) rs776866974
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs) rs1596514864
NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del) rs2092048798
NM_001009944.3(PKD1):c.9503T>C (p.Phe3168Ser)
NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
NM_001009944.3(PKD1):c.9513del (p.Thr3172fs) rs2544717941
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr) rs754938191
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del) rs2544717535
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9569-1G>A rs2151741177
NM_001009944.3(PKD1):c.9569-1G>T
NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly) rs1596513913
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9697dup (p.Glu3233fs) rs2544715201
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378
NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr) rs1188643869
NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9924-1G>C rs2151738493
NM_001009944.3(PKD1):c.[8279T>C;8282G>C8291T>C]
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys) rs139862860
NM_001023570.4(IQCB1):c.100+1G>A rs2472529375
NM_001023570.4(IQCB1):c.101-1G>T rs1372024420
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter) rs2472408864
NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs) rs2472408735
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter) rs1948905237
NM_001023570.4(IQCB1):c.1056del (p.Leu352fs) rs2472408689
NM_001023570.4(IQCB1):c.1129+1G>A rs2472408270
NM_001023570.4(IQCB1):c.1278+2del
NM_001023570.4(IQCB1):c.1345G>T (p.Glu449Ter)
NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs) rs2472527664
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter) rs761441175
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.1540dup (p.Ile514fs) rs2547581917
NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs) rs2547581855
NM_001023570.4(IQCB1):c.1568-2A>G rs2547577746
NM_001023570.4(IQCB1):c.1602del (p.Glu534fs) rs2547577653
NM_001023570.4(IQCB1):c.394-1G>A rs768014052
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter) rs2108595322
NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter) rs1949715312
NM_001023570.4(IQCB1):c.487+1G>A rs1949714664
NM_001023570.4(IQCB1):c.488-2A>G rs1559783611
NM_001023570.4(IQCB1):c.510dup (p.His171fs)
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter) rs2472452131
NM_001023570.4(IQCB1):c.588-1G>A
NM_001023570.4(IQCB1):c.628dup (p.Ile210fs) rs2472432983
NM_001023570.4(IQCB1):c.717dup (p.Ser240fs) rs1949314990
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.767-2A>G rs2108566215
NM_001023570.4(IQCB1):c.780dup (p.Leu261fs) rs2472427229
NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer) rs2472427221
NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter) rs794727964
NM_001023570.4(IQCB1):c.859C>T (p.Gln287Ter)
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) rs1949225959
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs) rs1949141890
NM_001023570.4(IQCB1):c.986+1G>T rs2472422216
NM_001024630.4(RUNX2):c.770_771del (p.Met257fs) rs1800492946
NM_001033047.3(NPNT):c.439G>T (p.Gly147Ter)
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) rs137852634
NM_001038.6(SCNN1A):c.33dup (p.Ser12Ter)
NM_001038.6(SCNN1A):c.655dup (p.Trp219fs) rs2497885818
NM_001038.6(SCNN1A):c.685-1G>A
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) rs1565488675
NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs)
NM_001038.6(SCNN1A):c.979+1G>A
NM_001038.6(SCNN1A):c.979G>T (p.Gly327Cys)
NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter) rs764425655
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) rs1596760831
NM_001039.4(SCNN1G):c.416_417del (p.Glu139fs)
NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) rs1567441193
NM_001080508.3(TBX18):c.1010del (p.Gly337fs) rs869320679
NM_001080508.3(TBX18):c.1654G>T (p.Gly552Ter)
NM_001080512.3(BICC1):c.387+1G>C rs778832785
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr) rs2131430377
NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser) rs778804628
NM_001098484.3(SLC4A4):c.160A>T (p.Lys54Ter)
NM_001098484.3(SLC4A4):c.1903+2T>A
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001098484.3(SLC4A4):c.853del (p.Ser285fs)
NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)
NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)
NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)
NM_001102564.3(IFT43):c.296-5686_296-5685del rs750135817
NM_001102564.3(IFT43):c.368+1G>A
NM_001102564.3(IFT43):c.477del (p.Val160fs)
NM_001102564.3(IFT43):c.509ATG[1] (p.Asp171del) rs2140102081
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg) rs1555369050
NM_001102564.3(IFT43):c.55del (p.Arg19fs)
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr) rs1603359205
NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val) rs1603359091
NM_001126108.2(SLC12A3):c.1005del (p.Pro336fs)
NM_001126108.2(SLC12A3):c.1079T>C (p.Ile360Thr)
NM_001126108.2(SLC12A3):c.1095+4A>G rs2144695925
NM_001126108.2(SLC12A3):c.1096-2A>G rs2055189357
NM_001126108.2(SLC12A3):c.1124C>A (p.Thr375Asn)
NM_001126108.2(SLC12A3):c.1142G>A (p.Trp381Ter)
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser) rs2055190908
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter) rs747139582
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser) rs1429832884
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) rs2144711571
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly) rs28936387
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly) rs2144711663
NM_001126108.2(SLC12A3):c.1316G>T (p.Gly439Val) rs1246053601
NM_001126108.2(SLC12A3):c.1335+1_1335+6del rs759801838
NM_001126108.2(SLC12A3):c.1335G>C (p.Gln445His)
NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp) rs139743444
NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val)
NM_001126108.2(SLC12A3):c.1443+1G>A rs2055211978
NM_001126108.2(SLC12A3):c.1444-2_1462dup rs1325615258
NM_001126108.2(SLC12A3):c.1450del (p.Cys484fs)
NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter) rs1028685823
NM_001126108.2(SLC12A3):c.1465T>C (p.Tyr489His) rs2144714194
NM_001126108.2(SLC12A3):c.1519C>T (p.Arg507Cys)
NM_001126108.2(SLC12A3):c.1527C>A (p.Tyr509Ter)
NM_001126108.2(SLC12A3):c.1558ATC[2] (p.Ile522del)
NM_001126108.2(SLC12A3):c.1573C>T (p.Leu525Phe)
NM_001126108.2(SLC12A3):c.157del (p.Met53fs) rs2144678137
NM_001126108.2(SLC12A3):c.1619A>G (p.Tyr540Cys) rs2144719500
NM_001126108.2(SLC12A3):c.1620T>A (p.Tyr540Ter) rs2144719508
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly) rs1451284628
NM_001126108.2(SLC12A3):c.1670-8_1670-7inv
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter) rs2144723074
NM_001126108.2(SLC12A3):c.1679C>A (p.Pro560His)
NM_001126108.2(SLC12A3):c.1702del (p.Trp568fs) rs2543515349
NM_001126108.2(SLC12A3):c.1703G>A (p.Trp568Ter) rs2543515354
NM_001126108.2(SLC12A3):c.1763C>A (p.Ala588Glu) rs121909382
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.1825+1G>C rs2543515886
NM_001126108.2(SLC12A3):c.1825+1del
NM_001126108.2(SLC12A3):c.1836G>A (p.Trp612Ter)
NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp) rs779160677
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) rs757490496
NM_001126108.2(SLC12A3):c.1850A>G (p.Gln617Arg)
NM_001126108.2(SLC12A3):c.185A>G (p.Asp62Gly) rs1251732657
NM_001126108.2(SLC12A3):c.187GTG[1] (p.Val64del)
NM_001126108.2(SLC12A3):c.1909del (p.His637fs)
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.194_207del (p.Pro65fs)
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_001126108.2(SLC12A3):c.202G>T (p.Glu68Ter)
NM_001126108.2(SLC12A3):c.2058dup (p.Pro687fs)
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs) rs750710315
NM_001126108.2(SLC12A3):c.2142_2162delinsA (p.Glu715fs)
NM_001126108.2(SLC12A3):c.2178+1G>A rs2144730439
NM_001126108.2(SLC12A3):c.2186G>C (p.Gly729Ala)
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) rs2144733006
NM_001126108.2(SLC12A3):c.2332del (p.Glu778fs)
NM_001126108.2(SLC12A3):c.2368+2T>C
NM_001126108.2(SLC12A3):c.2369-2A>G rs770038566
NM_001126108.2(SLC12A3):c.2419+13C>G
NM_001126108.2(SLC12A3):c.2420-37_2420-19del rs760759330
NM_001126108.2(SLC12A3):c.2495A>G (p.Asp832Gly) rs1555501437
NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg) rs769412145
NM_001126108.2(SLC12A3):c.2555G>T (p.Arg852Leu)
NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro) rs267607051
NM_001126108.2(SLC12A3):c.2648del (p.Leu883fs)
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr) rs1596883431
NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro) rs1555499151
NM_001126108.2(SLC12A3):c.2815del (p.Trp939fs) rs2144767026
NM_001126108.2(SLC12A3):c.283-435_283-384dup rs2144681043
NM_001126108.2(SLC12A3):c.2847C>G (p.Asn949Lys)
NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=) rs2144767166
NM_001126108.2(SLC12A3):c.2864G>C (p.Arg955Pro) rs202114767
NM_001126108.2(SLC12A3):c.2872A>G (p.Arg958Gly)
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) rs773428143
NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr) rs2144772485
NM_001126108.2(SLC12A3):c.2924+1G>T
NM_001126108.2(SLC12A3):c.2925-1G>A rs2543584461
NM_001126108.2(SLC12A3):c.2925-2A>G
NM_001126108.2(SLC12A3):c.2939_2949del (p.Gly980fs)
NM_001126108.2(SLC12A3):c.2978G>A (p.Trp993Ter) rs1272158837
NM_001126108.2(SLC12A3):c.421G>A (p.Gly141Arg) rs1596886086
NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer) rs2543473321
NM_001126108.2(SLC12A3):c.430-1G>A
NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs) rs2144677696
NM_001126108.2(SLC12A3):c.497dup (p.Gly167fs)
NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro) rs1596890176
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs) rs770513014
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs) rs758683818
NM_001126108.2(SLC12A3):c.602-11T>A rs2055071198
NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val) rs2144689378
NM_001126108.2(SLC12A3):c.614del (p.Phe205fs) rs2055071588
NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro) rs758035631
NM_001126108.2(SLC12A3):c.643C>T (p.Leu215Phe)
NM_001126108.2(SLC12A3):c.658G>A (p.Gly220Ser)
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) rs1437937060
NM_001126108.2(SLC12A3):c.671_672del (p.Ala224fs) rs2055072815
NM_001126108.2(SLC12A3):c.704_705delinsA (p.Thr235fs)
NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly) rs2144689801
NM_001126108.2(SLC12A3):c.751del (p.Ala251fs) rs2543483331
NM_001126108.2(SLC12A3):c.768dup (p.Ile257fs)
NM_001126108.2(SLC12A3):c.819_820delinsGTGGTCTCGGTCACTCGG (p.Ile274fs)
NM_001126108.2(SLC12A3):c.843_846dup (p.Ser283fs) rs2543483872
NM_001126108.2(SLC12A3):c.84_85del (p.Ser28fs)
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter) rs751675724
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) rs748920885
NM_001126108.2(SLC12A3):c.979del (p.Gln327fs) rs2543488643
NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs) rs2144695518
NM_001127898.4(CLCN5):c.1004G>T (p.Ser335Ile) rs782157715
NM_001127898.4(CLCN5):c.1014+1G>A rs2147594243
NM_001127898.4(CLCN5):c.1052C>A (p.Ser351Ter)
NM_001127898.4(CLCN5):c.1137dup (p.Phe380fs)
NM_001127898.4(CLCN5):c.1261C>T (p.Gln421Ter) rs2519434099
NM_001127898.4(CLCN5):c.1275T>G (p.Tyr425Ter)
NM_001127898.4(CLCN5):c.1448del (p.Gly483fs) rs2519434988
NM_001127898.4(CLCN5):c.1485C>G (p.Tyr495Ter)
NM_001127898.4(CLCN5):c.1517_1518dup (p.Leu507fs) rs2519435406
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1580del (p.Pro527fs) rs2519440356
NM_001127898.4(CLCN5):c.1595G>A (p.Gly532Asp)
NM_001127898.4(CLCN5):c.1601_1602dup (p.Ala535Ter)
NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter) rs2519440480
NM_001127898.4(CLCN5):c.1658G>A (p.Trp553Ter)
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.1730del (p.Ala577fs) rs1933984291
NM_001127898.4(CLCN5):c.1744+1G>C
NM_001127898.4(CLCN5):c.1748G>A (p.Gly583Glu) rs2147605140
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1789G>T (p.Glu597Ter)
NM_001127898.4(CLCN5):c.1790A>C (p.Glu597Ala)
NM_001127898.4(CLCN5):c.1869dup (p.Arg624fs) rs2519444761
NM_001127898.4(CLCN5):c.1938del (p.Phe646fs) rs2147605760
NM_001127898.4(CLCN5):c.2060dup (p.Tyr687Ter) rs2147606263
NM_001127898.4(CLCN5):c.2108G>A (p.Gly703Asp)
NM_001127898.4(CLCN5):c.2291_2293delinsAA (p.Thr764fs)
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001127898.4(CLCN5):c.277_282delinsTCTC (p.Val93fs)
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.315G>A (p.Glu105=) rs2519397087
NM_001127898.4(CLCN5):c.332_333del (p.Lys111fs) rs1933254834
NM_001127898.4(CLCN5):c.348del (p.Ala116_Leu117insTer)
NM_001127898.4(CLCN5):c.379G>C (p.Gly127Arg) rs782720805
NM_001127898.4(CLCN5):c.384G>C (p.Trp128Cys) rs1933257247
NM_001127898.4(CLCN5):c.416-1G>A
NM_001127898.4(CLCN5):c.505G>T (p.Glu169Ter) rs2519406899
NM_001127898.4(CLCN5):c.567G>A (p.Trp189Ter)
NM_001127898.4(CLCN5):c.746G>T (p.Gly249Val) rs2519421939
NM_001127898.4(CLCN5):c.772A>T (p.Lys258Ter)
NM_001127898.4(CLCN5):c.776G>A (p.Trp259Ter) rs2519422022
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.902A>T (p.Lys301Ile) rs782733541
NM_001127898.4(CLCN5):c.933+1G>A rs2519422486
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626
NM_001128178.3(NPHP1):c.1044_1053del (p.Ser349fs)
NM_001128178.3(NPHP1):c.1103_1104del (p.Thr368fs)
NM_001128178.3(NPHP1):c.1158+1G>A rs2467272833
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter) rs2467599617
NM_001128178.3(NPHP1):c.1352+1G>A
NM_001128178.3(NPHP1):c.1352+2T>C rs2467251149
NM_001128178.3(NPHP1):c.1415_1427del (p.Pro471_Ser472insTer)
NM_001128178.3(NPHP1):c.141_143+40del rs2467599107
NM_001128178.3(NPHP1):c.1530-1G>A
NM_001128178.3(NPHP1):c.1735G>T (p.Glu579Ter)
NM_001128178.3(NPHP1):c.182del (p.Asn61fs) rs1683749371
NM_001128178.3(NPHP1):c.1893dup (p.Ile632fs)
NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu)
NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter)
NM_001128178.3(NPHP1):c.361_362dup (p.Ser121fs) rs2467405206
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.522+1G>A rs2467403268
NM_001128178.3(NPHP1):c.522+1G>C rs2467403268
NM_001128178.3(NPHP1):c.523-1G>T
NM_001128178.3(NPHP1):c.523-2A>C rs2467395269
NM_001128178.3(NPHP1):c.69+1del rs1435671751
NM_001128178.3(NPHP1):c.729-1G>C rs2467370400
NM_001128178.3(NPHP1):c.771+170T>G
NM_001128178.3(NPHP1):c.771+37_771+38dup
NM_001128178.3(NPHP1):c.771+58C>T rs367600757
NM_001128178.3(NPHP1):c.77_143+140del rs2467598236
NM_001128178.3(NPHP1):c.859+1G>A
NM_001128178.3(NPHP1):c.860-2A>G rs2467345309
NM_001128178.3(NPHP1):c.865C>T (p.Gln289Ter) rs2104548702
NM_001128178.3(NPHP1):c.878del (p.Asn293fs)
NM_001142966.3(GREB1L):c.1147_1153del (p.Thr383fs) rs2511364809
NM_001142966.3(GREB1L):c.157+1del rs2040417979
NM_001142966.3(GREB1L):c.1984+3A>C rs2511464713
NM_001142966.3(GREB1L):c.2621G>A (p.Trp874Ter)
NM_001142966.3(GREB1L):c.2640dup (p.Leu881fs)
NM_001142966.3(GREB1L):c.3295C>T (p.Gln1099Ter) rs1555659101
NM_001142966.3(GREB1L):c.355+2T>G
NM_001142966.3(GREB1L):c.3673dup (p.Gln1225fs)
NM_001142966.3(GREB1L):c.3704C>A (p.Ser1235Tyr) rs2036715609
NM_001142966.3(GREB1L):c.37C>T (p.Arg13Ter) rs777707946
NM_001142966.3(GREB1L):c.3849_3850del (p.Tyr1284fs) rs2511868697
NM_001142966.3(GREB1L):c.3863G>A (p.Trp1288Ter) rs2511868849
NM_001142966.3(GREB1L):c.3907del (p.Asp1303fs)
NM_001142966.3(GREB1L):c.3970-20A>G rs1353636049
NM_001142966.3(GREB1L):c.3984_3996del (p.Tyr1330fs)
NM_001142966.3(GREB1L):c.4276G>A (p.Val1426Ile) rs2036991057
NM_001142966.3(GREB1L):c.4276_4277del (p.Val1426fs)
NM_001142966.3(GREB1L):c.4353C>A (p.Phe1451Leu)
NM_001142966.3(GREB1L):c.4700T>C (p.Leu1567Pro) rs1555662061
NM_001142966.3(GREB1L):c.4777del (p.Asn1592_Leu1593insTer)
NM_001142966.3(GREB1L):c.4881_4882del (p.His1627fs) rs2511993857
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001142966.3(GREB1L):c.5074G>T (p.Asp1692Tyr) rs2037388926
NM_001142966.3(GREB1L):c.5198A>G (p.Asn1733Ser) rs2037428972
NM_001142966.3(GREB1L):c.5622T>A (p.Cys1874Ter) rs2037623971
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro) rs1191455921
NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly) rs121909492
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys) rs121909486
NM_001174147.2(LMX1B):c.957del (p.Ile319fs) rs2490695028
NM_001199397.3(NEK1):c.1020+1G>A rs980051423
NM_001199397.3(NEK1):c.1140+2T>C
NM_001199397.3(NEK1):c.1161_1162insC (p.Glu388fs) rs765296153
NM_001199397.3(NEK1):c.117+1G>A rs794727285
NM_001199397.3(NEK1):c.118-1G>A rs1770598885
NM_001199397.3(NEK1):c.1267-1G>A
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.1691del (p.Met564fs)
NM_001199397.3(NEK1):c.1750-2A>G
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.3(NEK1):c.1833+1G>T rs1296322530
NM_001199397.3(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.3(NEK1):c.1992del (p.Val665fs) rs775849720
NM_001199397.3(NEK1):c.2139+1G>A
NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter) rs1744312712
NM_001199397.3(NEK1):c.2640del (p.Val881fs)
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.2886-1G>A rs773496891
NM_001199397.3(NEK1):c.3391G>C (p.Asp1131His) rs2111032650
NM_001199397.3(NEK1):c.3761_3771del (p.Ile1254fs) rs2111007067
NM_001199397.3(NEK1):c.442G>T (p.Gly148Ter) rs2546929747
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199397.3(NEK1):c.606+1G>C rs370576859
NM_001199397.3(NEK1):c.893del (p.Asn298fs) rs1765802748
NM_001201427.2(DAAM2):c.196C>T (p.Arg66Ter)
NM_001204285.2(MUC1):c.1354-1G>A rs2526888534
NM_001204285.2(MUC1):c.184del (p.Ser62fs) rs2527049898
NM_001204285.2(MUC1):c.293_296dup (p.Ser100fs) rs2527044406
NM_001204285.2(MUC1):c.435-27_467del
NM_001204286.1(MUC1):c.1078C>T (p.Arg360Ter)
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys) rs1178682633
NM_001329943.3(KIAA0586):c.1129+1G>A rs2140707466
NM_001329943.3(KIAA0586):c.1130-2A>G rs2543001967
NM_001329943.3(KIAA0586):c.1253+1G>A rs531197147
NM_001329943.3(KIAA0586):c.1656+1G>A
NM_001329943.3(KIAA0586):c.1884+1G>T rs1238313349
NM_001329943.3(KIAA0586):c.200-2A>G rs765227931
NM_001329943.3(KIAA0586):c.2059+1G>C
NM_001329943.3(KIAA0586):c.2254+1G>T rs907814338
NM_001329943.3(KIAA0586):c.2634+1G>T rs2543375994
NM_001329943.3(KIAA0586):c.2825+1G>A rs2141025675
NM_001329943.3(KIAA0586):c.2945-1G>C rs1208252356
NM_001329943.3(KIAA0586):c.3142_3144+5del rs771240219
NM_001329943.3(KIAA0586):c.3144+2T>C rs1424747601
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001329943.3(KIAA0586):c.3859-3_3865del rs2543762704
NM_001329943.3(KIAA0586):c.3991-1G>A rs2543902802
NM_001329943.3(KIAA0586):c.411-1487A>T
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG rs2544559501
NM_001329943.3(KIAA0586):c.807+1G>T rs1159793989
NM_001346194.2(OXGR1):c.136G>A (p.Val46Met)
NM_001346194.2(OXGR1):c.371T>G (p.Leu124Arg) rs780034038
NM_001358921.2(COQ2):c.26dup (p.Ala10fs) rs1198292264
NM_001368894.2(PAX6):c.10+5G>C rs587776572
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly) rs397514640
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.142-3T>C rs2496174697
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg) rs759557055
NM_001368894.2(PAX6):c.400G>A (p.Val134Met) rs2496004464
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp) rs121907919
NM_001375405.1(CEP120):c.1255+1G>A rs2127068062
NM_001375405.1(CEP120):c.1861-2A>G rs2479304832
NM_001375405.1(CEP120):c.2013+1G>A rs2479303124
NM_001375405.1(CEP120):c.2014-2A>G rs2479298976
NM_001375405.1(CEP120):c.2580+2T>A rs2479747890
NM_001375405.1(CEP120):c.50-2113_206+103del
NM_001375978.1(CHRM3):c.480_499del (p.Val161fs)
NM_001377.3(DYNC2H1):c.10093G>T (p.Glu3365Ter)
NM_001377.3(DYNC2H1):c.10099C>A (p.Arg3367Ser) rs200710887
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu) rs1555081345
NM_001377.3(DYNC2H1):c.10112C>G (p.Ser3371Ter)
NM_001377.3(DYNC2H1):c.10207-1G>C rs865890773
NM_001377.3(DYNC2H1):c.10241del (p.Asp3414fs)
NM_001377.3(DYNC2H1):c.10309G>T (p.Glu3437Ter)
NM_001377.3(DYNC2H1):c.10342C>T (p.Gln3448Ter) rs1865048329
NM_001377.3(DYNC2H1):c.10444C>T (p.Gln3482Ter)
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) rs1565438488
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter) rs1555082470
NM_001377.3(DYNC2H1):c.10605+1G>T rs2135267768
NM_001377.3(DYNC2H1):c.10695+1G>A
NM_001377.3(DYNC2H1):c.10761+1G>A rs779706754
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs) rs1565459834
NM_001377.3(DYNC2H1):c.10802T>G (p.Leu3601Ter)
NM_001377.3(DYNC2H1):c.10822C>T (p.Gln3608Ter) rs1866204293
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.11022+2T>C
NM_001377.3(DYNC2H1):c.11150_11151insT (p.Leu3718fs)
NM_001377.3(DYNC2H1):c.1129dup (p.Thr377fs)
NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg) rs2135399555
NM_001377.3(DYNC2H1):c.1135-1G>C
NM_001377.3(DYNC2H1):c.1135-1G>T
NM_001377.3(DYNC2H1):c.11390dup (p.Asn3797fs) rs1263248887
NM_001377.3(DYNC2H1):c.11462dup (p.Leu3821fs)
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
NM_001377.3(DYNC2H1):c.11565dup (p.Asp3856fs)
NM_001377.3(DYNC2H1):c.11578C>T (p.Arg3860Ter)
NM_001377.3(DYNC2H1):c.11587del (p.Ala3863fs)
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.11650-1G>A rs878852996
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.11726-2A>G rs2496941500
NM_001377.3(DYNC2H1):c.11726-2del
NM_001377.3(DYNC2H1):c.11871_11874del (p.Asn3957fs)
NM_001377.3(DYNC2H1):c.11934+1G>A rs2496943337
NM_001377.3(DYNC2H1):c.12044_12048del (p.Ile4015fs)
NM_001377.3(DYNC2H1):c.12157-1G>T rs2497265324
NM_001377.3(DYNC2H1):c.12367-1G>A rs2497444053
NM_001377.3(DYNC2H1):c.12367-2A>G
NM_001377.3(DYNC2H1):c.12410C>T (p.Pro4137Leu) rs761765709
NM_001377.3(DYNC2H1):c.12457-1G>C rs2135805319
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12480dup (p.Gln4161fs) rs2497538745
NM_001377.3(DYNC2H1):c.12481C>T (p.Gln4161Ter)
NM_001377.3(DYNC2H1):c.12542del (p.Asn4181fs) rs2497539228
NM_001377.3(DYNC2H1):c.12566+2T>C rs1944749671
NM_001377.3(DYNC2H1):c.12567-1G>A rs2497544750
NM_001377.3(DYNC2H1):c.12575del (p.Gly4192fs)
NM_001377.3(DYNC2H1):c.12649-1G>A rs1333438254
NM_001377.3(DYNC2H1):c.12649-1G>T rs1333438254
NM_001377.3(DYNC2H1):c.12765+1_12765+4del rs1945274080
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.12813_12816dup (p.Thr4273fs)
NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser) rs372878677
NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) rs1223907858
NM_001377.3(DYNC2H1):c.1360+2T>G rs2496823635
NM_001377.3(DYNC2H1):c.136_145delinsCC (p.Gly46fs)
NM_001377.3(DYNC2H1):c.1370T>G (p.Leu457Ter)
NM_001377.3(DYNC2H1):c.1552C>T (p.Gln518Ter)
NM_001377.3(DYNC2H1):c.1582A>T (p.Lys528Ter)
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1661+1G>A
NM_001377.3(DYNC2H1):c.1661+1G>C rs1168449484
NM_001377.3(DYNC2H1):c.1662-2A>G rs980278365
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del) rs773897318
NM_001377.3(DYNC2H1):c.1857+1G>T
NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) rs555339053
NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn) rs1555041449
NM_001377.3(DYNC2H1):c.195+1G>A rs2496746746
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=) rs896105030
NM_001377.3(DYNC2H1):c.2026C>T (p.Gln676Ter)
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2105del (p.Lys702fs)
NM_001377.3(DYNC2H1):c.2107-1G>A rs1354433663
NM_001377.3(DYNC2H1):c.216del (p.Asp73fs)
NM_001377.3(DYNC2H1):c.2205+1G>A
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.2346-1G>A rs923787197
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.250G>T (p.Glu84Ter)
NM_001377.3(DYNC2H1):c.2561T>G (p.Leu854Ter)
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.2575-1G>A
NM_001377.3(DYNC2H1):c.2579_2580delinsAA (p.Trp860Ter) rs2496973799
NM_001377.3(DYNC2H1):c.2612T>C (p.Leu871Pro) rs2496974332
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.2703-2A>G rs2497000253
NM_001377.3(DYNC2H1):c.2721T>A (p.Cys907Ter)
NM_001377.3(DYNC2H1):c.2818+1G>C rs1591316134
NM_001377.3(DYNC2H1):c.2946+1G>C rs1442922319
NM_001377.3(DYNC2H1):c.2946+2T>G
NM_001377.3(DYNC2H1):c.2947-2_2949del rs1449883752
NM_001377.3(DYNC2H1):c.2993_2994insTTCG (p.Thr999fs)
NM_001377.3(DYNC2H1):c.3022_3025del (p.Ile1008fs)
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3148G>T (p.Glu1050Ter)
NM_001377.3(DYNC2H1):c.3178C>T (p.Gln1060Ter)
NM_001377.3(DYNC2H1):c.3302+1G>T rs1860669125
NM_001377.3(DYNC2H1):c.3404A>T (p.Glu1135Val) rs2134885195
NM_001377.3(DYNC2H1):c.340C>T (p.Gln114Ter)
NM_001377.3(DYNC2H1):c.3458+1G>A rs2497047845
NM_001377.3(DYNC2H1):c.3574-2A>G rs2497053774
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg) rs886039812
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.3744+1G>A rs781299070
NM_001377.3(DYNC2H1):c.3745-1G>A rs2497060336
NM_001377.3(DYNC2H1):c.3843T>A (p.Tyr1281Ter)
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) rs1555050986
NM_001377.3(DYNC2H1):c.385_392del (p.Asn129fs)
NM_001377.3(DYNC2H1):c.3907G>T (p.Gly1303Ter)
NM_001377.3(DYNC2H1):c.4059del (p.Glu1353fs)
NM_001377.3(DYNC2H1):c.4069_4070insT (p.Gly1357fs) rs2497063317
NM_001377.3(DYNC2H1):c.4075G>T (p.Gly1359Ter)
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4185_4186delinsCT (p.Gly1396Ter)
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter) rs1395482031
NM_001377.3(DYNC2H1):c.4280del (p.Pro1427fs)
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.4379-5_4386del
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4491+1G>A rs371940982
NM_001377.3(DYNC2H1):c.4491+2T>C rs2497087696
NM_001377.3(DYNC2H1):c.4492-1G>A rs2497097065
NM_001377.3(DYNC2H1):c.4493del (p.Thr1498fs)
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4567C>T (p.Arg1523Ter)
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.476T>A (p.Leu159Ter)
NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn) rs1555054771
NM_001377.3(DYNC2H1):c.4838T>A (p.Leu1613Ter)
NM_001377.3(DYNC2H1):c.4968+1G>A
NM_001377.3(DYNC2H1):c.4969-2A>G rs1221933494
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp) rs777396565
NM_001377.3(DYNC2H1):c.5165del (p.Lys1722fs)
NM_001377.3(DYNC2H1):c.5335-1G>A rs2497151496
NM_001377.3(DYNC2H1):c.5445dup (p.Ala1816fs) rs2497152398
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5558+1G>A rs1172074861
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5559-1G>C rs2134979684
NM_001377.3(DYNC2H1):c.5578C>T (p.Gln1860Ter)
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5643_5646del (p.Arg1881fs) rs2497158423
NM_001377.3(DYNC2H1):c.5675-1G>A
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.5875-2A>T rs2496234517
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.6017del (p.Tyr2006fs)
NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr) rs2134994767
NM_001377.3(DYNC2H1):c.6035C>T (p.Ala2012Val) rs1215030552
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.621del (p.Glu208fs)
NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter) rs2496243325
NM_001377.3(DYNC2H1):c.6244G>T (p.Glu2082Ter)
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6254del (p.Gln2085fs)
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.626_642del (p.Phe209fs)
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6381dup (p.Ser2128fs) rs2496256443
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.6439G>T (p.Asp2147Tyr) rs1463801364
NM_001377.3(DYNC2H1):c.6448G>T (p.Glu2150Ter)
NM_001377.3(DYNC2H1):c.6477G>A (p.Gln2159=) rs752962611
NM_001377.3(DYNC2H1):c.6485_6486del (p.Tyr2162fs) rs2496272489
NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) rs780855765
NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) rs1555060411
NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) rs1243999036
NM_001377.3(DYNC2H1):c.6633+1G>A rs1862012580
NM_001377.3(DYNC2H1):c.6634-1G>C rs1862062786
NM_001377.3(DYNC2H1):c.6634-2A>G rs1555060940
NM_001377.3(DYNC2H1):c.6805C>T (p.Gln2269Ter)
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) rs1384888093
NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg) rs1555061228
NM_001377.3(DYNC2H1):c.6893+1G>A rs2496281774
NM_001377.3(DYNC2H1):c.6894-1G>A rs2496286836
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.6961C>T (p.Gln2321Ter)
NM_001377.3(DYNC2H1):c.7001del (p.Thr2334fs)
NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr) rs1555062340
NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter) rs770936919
NM_001377.3(DYNC2H1):c.7292+2del
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) rs1386343205
NM_001377.3(DYNC2H1):c.7541-2A>G rs2496317302
NM_001377.3(DYNC2H1):c.7547C>G (p.Ser2516Ter) rs1201137446
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del) rs1555066796
NM_001377.3(DYNC2H1):c.7894G>T (p.Glu2632Ter) rs1862623631
NM_001377.3(DYNC2H1):c.7903G>T (p.Glu2635Ter) rs1862623916
NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu) rs200614421
NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg) rs1268066804
NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) rs1214801816
NM_001377.3(DYNC2H1):c.8122del (p.Gln2707_Val2708insTer)
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377.3(DYNC2H1):c.8283del (p.Phe2761fs) rs1862810311
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) rs1565394086
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8484_8485del (p.Gly2829fs) rs2496401211
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8604dup (p.Pro2869fs)
NM_001377.3(DYNC2H1):c.8622del (p.Leu2876fs)
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.8832+1G>T
NM_001377.3(DYNC2H1):c.8933T>G (p.Leu2978Ter)
NM_001377.3(DYNC2H1):c.8946+1G>T
NM_001377.3(DYNC2H1):c.8947-2A>G rs2496453086
NM_001377.3(DYNC2H1):c.8951del (p.Pro2983_Leu2984insTer) rs2496453166
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.9093G>A (p.Trp3031Ter)
NM_001377.3(DYNC2H1):c.9157C>T (p.Arg3053Ter) rs1485345396
NM_001377.3(DYNC2H1):c.9292C>T (p.Gln3098Ter) rs1408863024
NM_001377.3(DYNC2H1):c.9382dup (p.Arg3128fs)
NM_001377.3(DYNC2H1):c.9440+4A>G rs2496509193
NM_001377.3(DYNC2H1):c.962C>T (p.Pro321Leu) rs2496802097
NM_001377.3(DYNC2H1):c.9710-2A>G rs1555077194
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg) rs371932985
NM_001377.3(DYNC2H1):c.9845A>C (p.Asp3282Ala) rs1864505636
NM_001377.3(DYNC2H1):c.9893C>A (p.Ser3298Ter) rs867777631
NM_001377.3(DYNC2H1):c.989G>A (p.Arg330His) rs2496802501
NM_001377.3(DYNC2H1):c.989G>T (p.Arg330Leu) rs2496802501
NM_001377.3(DYNC2H1):c.9918+1G>T rs772732648
NM_001377.3(DYNC2H1):c.9919-2A>C rs2496584958
NM_001377.3(DYNC2H1):c.9919-2A>T rs2496584958
NM_001377.3(DYNC2H1):c.999+1G>A rs1222714681
NM_001377.3:c.[5971A>T];[6010A>G]
NM_001378615.1(CC2D2A):c.1497del (p.Glu500fs) rs2109029810
NM_001379286.1(ZNF423):c.2555G>A (p.Gly852Glu) rs1596759273
NM_001384479.1(AGT):c.1195G>T (p.Glu399Ter)
NM_001384479.1(AGT):c.1212del (p.Lys404fs)
NM_001384479.1(AGT):c.1264G>T (p.Glu422Ter)
NM_001384479.1(AGT):c.749del (p.Thr250fs) rs2527714738
NM_001384479.1(AGT):c.816C>G (p.Tyr272Ter)
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala) rs730882210
NM_001395002.1(MAP4K4):c.3458_3459del (p.Val1153fs) rs2468868556
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp) rs2071367863
NM_001424.6(EMP2):c.87_89del (p.Trp29_Val30delinsTer)
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) rs1057518868
NM_001453.3(FOXC1):c.1025C>T (p.Ala342Val) rs773600190
NM_001453.3(FOXC1):c.1139G>T (p.Gly380Val) rs1581374640
NM_001453.3(FOXC1):c.207GCAGCC[3] (p.70QP[3]) rs780038931
NM_001453.3(FOXC1):c.430AAG[1] (p.Lys145del) rs768741176
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del) rs774848608
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala) rs1889422994
NM_001482.3(GATM):c.217_250dup (p.Glu84fs)
NM_001482.3(GATM):c.259T>C (p.Cys87Arg) rs2140657166
NM_001482.3(GATM):c.965G>C (p.Arg322Pro) rs1325460408
NM_001619.5(GRK2):c.1348_1349del (p.Ser450fs) rs2136504839
NM_001619.5(GRK2):c.555+1G>A rs2136501226
NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs) rs2466301518
NM_001692.4(ATP6V1B1):c.1061-1G>T
NM_001692.4(ATP6V1B1):c.123C>G (p.Tyr41Ter) rs782151715
NM_001692.4(ATP6V1B1):c.1249-1G>C
NM_001692.4(ATP6V1B1):c.1249-3C>G
NM_001692.4(ATP6V1B1):c.1341dup (p.Phe448fs) rs2466307556
NM_001692.4(ATP6V1B1):c.1348C>T (p.Gln450Ter)
NM_001692.4(ATP6V1B1):c.1349del (p.Gln450fs) rs1558681020
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs) rs1553416787
NM_001692.4(ATP6V1B1):c.1386C>A (p.Tyr462Ter) rs1572924733
NM_001692.4(ATP6V1B1):c.1404dup (p.Glu469fs)
NM_001692.4(ATP6V1B1):c.1449G>T (p.Lys483Asn) rs2104834809
NM_001692.4(ATP6V1B1):c.273+2T>A rs1680488861
NM_001692.4(ATP6V1B1):c.274-2A>G
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs) rs2466284785
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs) rs2466285143
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001692.4(ATP6V1B1):c.403A>T (p.Lys135Ter) rs2466287299
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter) rs1553419769
NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter) rs1553415274
NM_001692.4(ATP6V1B1):c.687+1G>A
NM_001692.4(ATP6V1B1):c.687G>A (p.Gly229=)
NM_001692.4(ATP6V1B1):c.923del (p.Arg308fs)
NM_001692.4(ATP6V1B1):c.988G>T (p.Glu330Ter) rs781800676
NM_001845.6(COL4A1):c.2512A>G (p.Met838Val) rs2139164333
NM_001845.6(COL4A1):c.2782G>C (p.Asp928His) rs2139163073
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser) rs1877181545
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro) rs140781106
NM_002204.4(ITGA3):c.2593del (p.Asp865fs) rs2144304926
NM_002241.5(KCNJ10):c.170C>T (p.Thr57Ile) rs2525431132
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys) rs387906834
NM_002241.5(KCNJ10):c.305dup (p.Ala103fs) rs765409185
NM_002241.5(KCNJ10):c.400C>A (p.Arg134Ser) rs1648622680
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His) rs137853073
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002292.4(LAMB2):c.1165T>G (p.Cys389Gly)
NM_002292.4(LAMB2):c.130del (p.Arg44fs) rs2107645768
NM_002292.4(LAMB2):c.143A>C (p.Tyr48Ser) rs776905329
NM_002292.4(LAMB2):c.1488del (p.Leu496_Val497insTer) rs2107643014
NM_002292.4(LAMB2):c.1519-2A>C
NM_002292.4(LAMB2):c.1598+2T>C rs2472550610
NM_002292.4(LAMB2):c.1599-1G>T rs1330915067
NM_002292.4(LAMB2):c.1816C>T (p.Gln606Ter)
NM_002292.4(LAMB2):c.1A>T (p.Met1Leu)
NM_002292.4(LAMB2):c.2369C>G (p.Ser790Ter) rs2472543506
NM_002292.4(LAMB2):c.2833C>T (p.Gln945Ter) rs2107639217
NM_002292.4(LAMB2):c.2898del (p.Ala967fs) rs2045394381
NM_002292.4(LAMB2):c.2983del (p.Met995fs)
NM_002292.4(LAMB2):c.3109+1G>T rs888830612
NM_002292.4(LAMB2):c.3110-1G>A
NM_002292.4(LAMB2):c.3207dup (p.Asn1070fs) rs2107638673
NM_002292.4(LAMB2):c.381_382del (p.Asn128fs)
NM_002292.4(LAMB2):c.385+1G>A
NM_002292.4(LAMB2):c.386-11_393del rs1440884580
NM_002292.4(LAMB2):c.3904C>T (p.Arg1302Ter)
NM_002292.4(LAMB2):c.3937C>T (p.Gln1313Ter) rs2045374191
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs) rs2045366127
NM_002292.4(LAMB2):c.4435G>T (p.Glu1479Ter) rs757251877
NM_002292.4(LAMB2):c.4537C>T (p.Gln1513Ter) rs2107636063
NM_002292.4(LAMB2):c.4611_4621del (p.Thr1538fs) rs1384293775
NM_002292.4(LAMB2):c.4781+1G>A
NM_002292.4(LAMB2):c.4782-1G>A
NM_002292.4(LAMB2):c.4822C>T (p.Gln1608Ter) rs777742373
NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs) rs747602505
NM_002292.4(LAMB2):c.4923+2T>G rs1575527152
NM_002292.4(LAMB2):c.557del (p.Phe186fs)
NM_002292.4(LAMB2):c.77-1G>A
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg) rs2045472442
NM_002292.4(LAMB2):c.[1648C>T];[4519C>T]
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1139del (p.Ile380fs) rs2519324628
NM_002641.4(PIGA):c.1188+1G>C rs2147717286
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs) rs2519321757
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.151_187del (p.Ser51fs) rs2519331925
NM_002641.4(PIGA):c.196_206del (p.Lys66fs) rs2519331896
NM_002641.4(PIGA):c.329dup (p.Pro111fs) rs2519331657
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002941.4(ROBO1):c.1198C>T (p.Gln400Ter) rs2081039925
NM_002941.4(ROBO1):c.2758C>T (p.Arg920Ter) rs1706676495
NM_002941.4(ROBO1):c.2924G>A (p.Trp975Ter) rs1705825244
NM_002941.4(ROBO1):c.4015_4018del (p.Ala1339fs) rs2107397010
NM_002941.4(ROBO1):c.4823C>G (p.Ser1608Ter) rs1703089925
NM_002941.4(ROBO1):c.526C>T (p.Pro176Ser) rs2082671645
NM_002941.4(ROBO1):c.850G>T (p.Glu284Ter) rs2108073043
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr) rs1430578614
NM_003041.4(SLC5A2):c.1066G>A (p.Gly356Ser)
NM_003041.4(SLC5A2):c.1130-1G>A
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1153_1162del (p.Val385fs) rs2082523114
NM_003041.4(SLC5A2):c.1262_1280dup (p.Leu428fs)
NM_003041.4(SLC5A2):c.1281-2A>G
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) rs773289713
NM_003041.4(SLC5A2):c.1361del (p.Asp454fs)
NM_003041.4(SLC5A2):c.1450-1G>A
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) rs1309307492
NM_003041.4(SLC5A2):c.1540C>T (p.Pro514Ser)
NM_003041.4(SLC5A2):c.1552_1573dup (p.His525fs) rs987447860
NM_003041.4(SLC5A2):c.1711del (p.Glu571fs)
NM_003041.4(SLC5A2):c.1830C>A (p.Cys610Ter)
NM_003041.4(SLC5A2):c.333G>A (p.Trp111Ter)
NM_003041.4(SLC5A2):c.394C>T (p.Arg132Cys)
NM_003041.4(SLC5A2):c.409C>T (p.Arg137Cys)
NM_003041.4(SLC5A2):c.434T>G (p.Leu145Arg)
NM_003041.4(SLC5A2):c.962A>G (p.Lys321Arg)
NM_003052.5(SLC34A1):c.1008C>A (p.Cys336Ter)
NM_003052.5(SLC34A1):c.1614G>A (p.Trp538Ter)
NM_003052.5(SLC34A1):c.189_190del (p.Cys64fs)
NM_003052.5(SLC34A1):c.189del (p.Cys64fs) rs2481008620
NM_003052.5(SLC34A1):c.247G>T (p.Glu83Ter)
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.690dup (p.Val231fs) rs2481014114
NM_003052.5(SLC34A1):c.778_809delinsAGC (p.Gly260fs)
NM_003052.5(SLC34A1):c.876_877del (p.Gly292_Asp293insTer)
NM_003052.5(SLC34A1):c.897_898del (p.His299fs)
NM_003361.4(UMOD):c.1196A>G (p.His399Arg) rs1596552335
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp) rs1555486021
NM_003361.4(UMOD):c.150C>G (p.Cys50Trp) rs1965764292
NM_003361.4(UMOD):c.154T>G (p.Cys52Gly)
NM_003361.4(UMOD):c.172G>T (p.Gly58Cys) rs748228253
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr) rs2507391033
NM_003361.4(UMOD):c.188G>C (p.Cys63Ser)
NM_003361.4(UMOD):c.189C>G (p.Cys63Trp) rs1199326518
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.203A>T (p.Glu68Val) rs2141676976
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser) rs121917768
NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)
NM_003361.4(UMOD):c.248G>T (p.Cys83Phe) rs2507390595
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
NM_003361.4(UMOD):c.272_274del (p.Ser91del) rs1965755740
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg) rs2141676543
NM_003361.4(UMOD):c.313G>T (p.Gly105Cys) rs747592262
NM_003361.4(UMOD):c.314G>A (p.Gly105Asp) rs1162633293
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.335_336delinsTT (p.Cys112Phe)
NM_003361.4(UMOD):c.358T>C (p.Cys120Arg) rs1555487621
NM_003361.4(UMOD):c.359G>T (p.Cys120Phe) rs1322587342
NM_003361.4(UMOD):c.404G>T (p.Cys135Phe)
NM_003361.4(UMOD):c.411C>G (p.Cys137Trp) rs1197633531
NM_003361.4(UMOD):c.464G>C (p.Cys155Ser)
NM_003361.4(UMOD):c.481T>C (p.Cys161Arg)
NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_003361.4(UMOD):c.552G>C (p.Trp184Cys) rs1965732404
NM_003361.4(UMOD):c.553C>G (p.Arg185Gly)
NM_003361.4(UMOD):c.554G>C (p.Arg185Pro)
NM_003361.4(UMOD):c.583T>C (p.Cys195Arg)
NM_003361.4(UMOD):c.585_586delinsGA (p.Cys195_Asp196delinsTrpAsn)
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn) rs1965729129
NM_003361.4(UMOD):c.587A>G (p.Asp196Gly) rs1060499657
NM_003361.4(UMOD):c.601G>T (p.Gly201Cys)
NM_003361.4(UMOD):c.606G>C (p.Trp202Cys)
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.610C>T (p.Arg204Cys) rs1567310019
NM_003361.4(UMOD):c.611G>A (p.Arg204His)
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003361.4(UMOD):c.667T>A (p.Cys223Ser)
NM_003361.4(UMOD):c.688T>A (p.Trp230Arg) rs1567309813
NM_003361.4(UMOD):c.688T>C (p.Trp230Arg)
NM_003361.4(UMOD):c.706C>A (p.Pro236Thr) rs2507386812
NM_003361.4(UMOD):c.733C>T (p.Arg245Cys)
NM_003361.4(UMOD):c.742T>C (p.Cys248Arg) rs1965716874
NM_003361.4(UMOD):c.767G>C (p.Cys256Ser) rs2507386350
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys) rs781101544
NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)
NM_003361.4(UMOD):c.891T>G (p.Cys297Trp) rs2507384602
NM_003361.4(UMOD):c.916T>G (p.Cys306Gly)
NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro) rs1555487318
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316
NM_003396.3(WNT9B):c.11dup (p.Pro5fs) rs1291189006
NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg) rs753748759
NM_003590.5(CUL3):c.1358dup (p.Asn453fs) rs1366667901
NM_003590.5(CUL3):c.1377G>A (p.Lys459=) rs886038765
NM_003590.5(CUL3):c.144_145del (p.Asn48fs)
NM_003590.5(CUL3):c.1629_1630del (p.His543fs) rs2469957330
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) rs1553535841
NM_003590.5(CUL3):c.1882dup (p.Val628fs)
NM_003590.5(CUL3):c.427G>T (p.Gly143Ter)
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) rs1553523940
NM_003638.3(ITGA8):c.158del (p.Lys53fs)
NM_003638.3(ITGA8):c.1764+1G>A rs2491052121
NM_003647.3(DGKE):c.1068_1071del (p.Asn356fs) rs764747885
NM_003647.3(DGKE):c.1442dup (p.Val482fs) rs1567825026
NM_003647.3(DGKE):c.178C>G (p.His60Asp) rs1482608926
NM_003647.3(DGKE):c.259T>C (p.Cys87Arg) rs2144181161
NM_003647.3(DGKE):c.465-2A>G rs1907143128
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.728_731del (p.Ile242_Leu243insTer) rs1064797074
NM_003647.3(DGKE):c.842G>A (p.Gly281Glu) rs755230915
NM_003901.4(SGPL1):c.1037G>T (p.Ser346Ile) rs1131692256
NM_003901.4(SGPL1):c.1588dup (p.Gln530fs) rs2492813518
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_003901.4(SGPL1):c.87del (p.Asn28_Tyr29insTer) rs1564622701
NM_003901.4(SGPL1):c.991_1001del (p.Tyr331fs)
NM_003990.3(PAX2):c.213-1_225delGGTACTACGAGACC rs1057518761
NM_004070.4(CLCNKA):c.1885G>T (p.Glu629Ter) rs2524331289
NM_004309.6(ARHGDIA):c.*167dup rs924285282
NM_004484.4(GPC3):c.1292+2T>A rs2071072322
NM_004484.4(GPC3):c.1413+2T>A rs2124401750
NM_004484.4(GPC3):c.1414-1G>C
NM_004484.4(GPC3):c.1666G>C (p.Gly556Arg) rs267606850
NM_004484.4(GPC3):c.337+2T>A rs2521895048
NM_004621.6(TRPC6):c.1090dup (p.Ser364fs) rs2496173240
NM_004621.6(TRPC6):c.129C>A (p.Cys43Ter)
NM_004621.6(TRPC6):c.131_146del (p.Pro44fs)
NM_004621.6(TRPC6):c.1540del (p.Trp514fs)
NM_004621.6(TRPC6):c.1753_1754del (p.Lys585fs)
NM_004621.6(TRPC6):c.1891_1894del (p.Val631fs) rs2497337197
NM_004621.6(TRPC6):c.2346dup (p.Trp783fs) rs1218485537
NM_004621.6(TRPC6):c.2410-2A>C rs2497323448
NM_004621.6(TRPC6):c.2415_2418del (p.Asn805fs) rs2497323385
NM_004621.6(TRPC6):c.2578_2581dup (p.Arg861fs)
NM_004621.6(TRPC6):c.2592_2595dup (p.Tyr866fs) rs2497277601
NM_004621.6(TRPC6):c.2619_2626del (p.Asp873fs) rs2497277391
NM_004621.6(TRPC6):c.2641G>T (p.Glu881Ter) rs1858816107
NM_004621.6(TRPC6):c.2665C>A (p.Gln889Lys)
NM_004621.6(TRPC6):c.2665del (p.Gln889fs)
NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn) rs1591517929
NM_004621.6(TRPC6):c.368C>G (p.Ser123Ter) rs2496225413
NM_004621.6(TRPC6):c.430G>C (p.Glu144Gln) rs2496224973
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) rs1555003819
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln) rs1860201767
NM_004621.6(TRPC6):c.946-1G>C
NM_004621.6(TRPC6):c.991G>A (p.Gly331Arg) rs2496173855
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.4(NPHS1):c.-489GA[7] rs139954720
NM_004646.4(NPHS1):c.1001T>C (p.Leu334Pro) rs1235916533
NM_004646.4(NPHS1):c.1012+2T>A rs1430436552
NM_004646.4(NPHS1):c.1013-1G>C rs1057517413
NM_004646.4(NPHS1):c.1013-1G>T rs1057517413
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.103del (p.Trp35fs) rs2513786291
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.4(NPHS1):c.1078_1079del (p.Ser360fs)
NM_004646.4(NPHS1):c.109dup (p.Leu37fs) rs2513786263
NM_004646.4(NPHS1):c.1102C>T (p.Pro368Ser) rs386833866
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter) rs753535989
NM_004646.4(NPHS1):c.111delinsTT (p.Pro38fs) rs2513786247
NM_004646.4(NPHS1):c.1134G>A (p.Trp378Ter) rs386833869
NM_004646.4(NPHS1):c.1135C>T (p.Arg379Trp) rs386833871
NM_004646.4(NPHS1):c.1135_1136del (p.Arg379fs) rs386833870
NM_004646.4(NPHS1):c.1138C>T (p.Gln380Ter) rs386833872
NM_004646.4(NPHS1):c.1172del rs1973176439
NM_004646.4(NPHS1):c.1188_1189del (p.Ile397fs) rs2513776980
NM_004646.4(NPHS1):c.1228del (p.Asp410fs) rs2513776885
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.4(NPHS1):c.1250G>A (p.Cys417Tyr)
NM_004646.4(NPHS1):c.1250G>T (p.Cys417Phe) rs386833875
NM_004646.4(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.4(NPHS1):c.1292dup (p.Ser432fs) rs386833877
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.1315+1G>A rs2513776700
NM_004646.4(NPHS1):c.1316-1G>C rs1973171785
NM_004646.4(NPHS1):c.1316-2A>G rs1555763090
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.133dup (p.Glu45fs) rs2513786164
NM_004646.4(NPHS1):c.1369del (p.Ala457fs) rs1057516918
NM_004646.4(NPHS1):c.1378del (p.Arg460fs) rs2513776469
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr) rs386833881
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.1414_1415delinsA (p.Pro472fs) rs2513776396
NM_004646.4(NPHS1):c.1434G>A (p.Trp478Ter) rs1242448684
NM_004646.4(NPHS1):c.1446dup (p.Arg483fs)
NM_004646.4(NPHS1):c.1454_1455del (p.Val485fs) rs2513774476
NM_004646.4(NPHS1):c.1531dup (p.Arg511fs) rs2513774352
NM_004646.4(NPHS1):c.1583G>T (p.Cys528Phe) rs386833885
NM_004646.4(NPHS1):c.1627+1G>A rs2513774191
NM_004646.4(NPHS1):c.1628-10C>A
NM_004646.4(NPHS1):c.1628-2A>G
NM_004646.4(NPHS1):c.163del (p.Val55fs) rs2513786012
NM_004646.4(NPHS1):c.1672C>T (p.Arg558Cys) rs386833886
NM_004646.4(NPHS1):c.1707C>G (p.Ser569Arg) rs386833888
NM_004646.4(NPHS1):c.1724C>A (p.Pro575Gln) rs386833890
NM_004646.4(NPHS1):c.173del (p.Pro58fs) rs1278702432
NM_004646.4(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.4(NPHS1):c.1749del (p.Glu585fs) rs2513773730
NM_004646.4(NPHS1):c.174del (p.Gly59fs) rs1057516942
NM_004646.4(NPHS1):c.1757+1G>A rs1555762591
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.4(NPHS1):c.1801G>C (p.Gly601Arg) rs386833893
NM_004646.4(NPHS1):c.181_182insTCTT (p.Ala61fs) rs2513785913
NM_004646.4(NPHS1):c.181_182insTT (p.Ala61fs) rs2513785913
NM_004646.4(NPHS1):c.1829T>A (p.Leu610Gln) rs386833894
NM_004646.4(NPHS1):c.1836_1837dup (p.Ser613fs) rs2513773323
NM_004646.4(NPHS1):c.1838C>A (p.Ser613Ter) rs2513773320
NM_004646.4(NPHS1):c.1875_1878dup (p.Ser627fs) rs2513773227
NM_004646.4(NPHS1):c.187C>T (p.Gln63Ter) rs2513785885
NM_004646.4(NPHS1):c.1905C>T (p.Ser635=) rs386833896
NM_004646.4(NPHS1):c.1921_1922delinsT (p.Asn641fs) rs2513773091
NM_004646.4(NPHS1):c.1928T>C (p.Leu643Pro) rs386833898
NM_004646.4(NPHS1):c.1930+1G>A rs2513773063
NM_004646.4(NPHS1):c.1931-1G>A rs1555762381
NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter) rs1568454093
NM_004646.4(NPHS1):c.1946del (p.Leu649fs) rs2513772078
NM_004646.4(NPHS1):c.1971del (p.Ala658fs) rs1057517022
NM_004646.4(NPHS1):c.2010_2011del (p.Ser671fs) rs2513771955
NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr) rs1352354716
NM_004646.4(NPHS1):c.2019C>A (p.Asn673Lys) rs191807913
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr) rs2146822238
NM_004646.4(NPHS1):c.2023_2024del (p.Ala675fs) rs755763002
NM_004646.4(NPHS1):c.2063_2069dup (p.Ala691fs) rs2513771832
NM_004646.4(NPHS1):c.2071+1G>T rs2146822164
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2083del (p.Arg695fs) rs758924701
NM_004646.4(NPHS1):c.2083dup (p.Arg695fs) rs758924701
NM_004646.4(NPHS1):c.2114dup (p.His705fs) rs2513771606
NM_004646.4(NPHS1):c.2120G>A (p.Trp707Ter) rs751809997
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His) rs926025297
NM_004646.4(NPHS1):c.2135_2136del (p.Ala712fs) rs2513771571
NM_004646.4(NPHS1):c.2137del (p.Asp713fs) rs1973102039
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs) rs386833904
NM_004646.4(NPHS1):c.2171C>G (p.Ser724Cys) rs386833905
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.4(NPHS1):c.2177del (p.Gly726fs) rs2146821851
NM_004646.4(NPHS1):c.2179_2212+6del rs2513771412
NM_004646.4(NPHS1):c.2206G>A (p.Val736Met) rs1131692245
NM_004646.4(NPHS1):c.2212+2T>C
NM_004646.4(NPHS1):c.2216C>T (p.Ala739Val) rs386833907
NM_004646.4(NPHS1):c.2225T>C (p.Ile742Thr) rs386833908
NM_004646.4(NPHS1):c.2227del (p.Arg743fs) rs386833910
NM_004646.4(NPHS1):c.2256_2257insAG (p.Val753fs) rs2513770560
NM_004646.4(NPHS1):c.225del (p.Arg76fs) rs2513785725
NM_004646.4(NPHS1):c.2334+2T>C rs1306056914
NM_004646.4(NPHS1):c.233dup (p.Gly79fs) rs2513785701
NM_004646.4(NPHS1):c.2347G>T (p.Glu783Ter)
NM_004646.4(NPHS1):c.2354_2355insTCGTCGTGCTGCT (p.Gln785fs) rs2513769591
NM_004646.4(NPHS1):c.2386G>C (p.Gly796Arg) rs1462077116
NM_004646.4(NPHS1):c.2387del (p.Gly796fs) rs1568453378
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.2405G>C (p.Arg802Pro) rs114203578
NM_004646.4(NPHS1):c.2411_2412del (p.His804fs) rs2513769522
NM_004646.4(NPHS1):c.2442C>G (p.Tyr814Ter) rs386833913
NM_004646.4(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.4(NPHS1):c.2504_2505del (p.Arg835fs) rs2513769378
NM_004646.4(NPHS1):c.2506+1G>A rs1973073001
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.2512C>A (p.Pro838Thr) rs2146819513
NM_004646.4(NPHS1):c.2515C>T (p.Gln839Ter) rs2513769229
NM_004646.4(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.4(NPHS1):c.2515dup (p.Gln839fs)
NM_004646.4(NPHS1):c.2521G>T (p.Glu841Ter) rs769092288
NM_004646.4(NPHS1):c.2541del (p.Lys848fs) rs1555761997
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs) rs386833919
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2618_2620delinsCC (p.Phe873fs) rs386833922
NM_004646.4(NPHS1):c.2624_2625del (p.Trp875fs) rs2513769039
NM_004646.4(NPHS1):c.2625G>A (p.Trp875Ter) rs386833923
NM_004646.4(NPHS1):c.2629_2630delinsT (p.Thr876_Lys877insTer) rs2513769018
NM_004646.4(NPHS1):c.2663+2T>A rs762392183
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2663_2663+9del rs771953692
NM_004646.4(NPHS1):c.2664-2A>G
NM_004646.4(NPHS1):c.2664-4_2670del rs386833924
NM_004646.4(NPHS1):c.2686del (p.Gln896fs) rs2513768554
NM_004646.4(NPHS1):c.2737C>T (p.Gln913Ter) rs758406223
NM_004646.4(NPHS1):c.2751_2754del (p.Phe918fs) rs2513768400
NM_004646.4(NPHS1):c.2760T>A (p.Cys920Ter) rs2513768382
NM_004646.4(NPHS1):c.2770_2776del (p.Asn924fs) rs386833925
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.4(NPHS1):c.2808dup (p.Ser937fs)
NM_004646.4(NPHS1):c.2815+2_2815+5del rs1216929720
NM_004646.4(NPHS1):c.2815+5G>A rs386833927
NM_004646.4(NPHS1):c.2816-3T>G rs746769666
NM_004646.4(NPHS1):c.2816-4_2822del rs386833928
NM_004646.4(NPHS1):c.2840T>G (p.Leu947Ter) rs2513766220
NM_004646.4(NPHS1):c.2840_2842del (p.Leu947_Lys948delinsTer) rs2513766216
NM_004646.4(NPHS1):c.2850dup (p.Ser951fs) rs2513766196
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met) rs114849139
NM_004646.4(NPHS1):c.286C>G (p.Leu96Val) rs386833929
NM_004646.4(NPHS1):c.2870T>A (p.Val957Glu) rs763902818
NM_004646.4(NPHS1):c.2902G>T (p.Gly968Cys) rs772979927
NM_004646.4(NPHS1):c.2905del (p.Leu969fs) rs369410355
NM_004646.4(NPHS1):c.2927+1G>A rs386833930
NM_004646.4(NPHS1):c.2927+2T>A rs1973023048
NM_004646.4(NPHS1):c.2928-3del rs2513765932
NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys) rs2146816353
NM_004646.4(NPHS1):c.2944dup (p.Thr982fs) rs386833931
NM_004646.4(NPHS1):c.295G>T (p.Glu99Ter) rs1006352232
NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs) rs2146816256
NM_004646.4(NPHS1):c.3005del (p.Gly1002fs) rs2513765778
NM_004646.4(NPHS1):c.3006_3012del (p.Gln1004fs) rs748819031
NM_004646.4(NPHS1):c.3010C>T (p.Gln1004Ter) rs2513765764
NM_004646.4(NPHS1):c.3061_3062delinsT (p.Asp1021fs) rs2513765668
NM_004646.4(NPHS1):c.3061del (p.Asp1021fs) rs34124941
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.4(NPHS1):c.3115dup (p.His1039fs) rs1057516637
NM_004646.4(NPHS1):c.3119_3122dup (p.Ser1042fs) rs2513761944
NM_004646.4(NPHS1):c.3167-1G>A rs1009762900
NM_004646.4(NPHS1):c.3177dup (p.Leu1060fs) rs2513756697
NM_004646.4(NPHS1):c.3224_3228del (p.Leu1075fs) rs2513756456
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3258G>A (p.Trp1086Ter)
NM_004646.4(NPHS1):c.3286+1G>A rs1599835856
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3287-2A>G rs758432802
NM_004646.4(NPHS1):c.3311+1_3311+11del rs2513755853
NM_004646.4(NPHS1):c.3311+1_3311+2delinsTC rs2513755877
NM_004646.4(NPHS1):c.3312-1G>A rs786204729
NM_004646.4(NPHS1):c.3312-1G>C rs786204729
NM_004646.4(NPHS1):c.3329_3330del (p.Val1110fs) rs2513755593
NM_004646.4(NPHS1):c.3335del (p.Asn1112fs) rs1972879328
NM_004646.4(NPHS1):c.333C>A (p.Cys111Ter) rs755089331
NM_004646.4(NPHS1):c.3352C>T (p.Gln1118Ter) rs1438328274
NM_004646.4(NPHS1):c.3352del (p.Gln1118fs) rs2513755545
NM_004646.4(NPHS1):c.3356_3357dup (p.Thr1120fs) rs386833937
NM_004646.4(NPHS1):c.3357G>A (p.Trp1119Ter) rs2513755521
NM_004646.4(NPHS1):c.3387+1G>A rs2513755430
NM_004646.4(NPHS1):c.3388-1G>A rs730880176
NM_004646.4(NPHS1):c.3388-2A>G rs386833938
NM_004646.4(NPHS1):c.33_34delinsTACACATCTG (p.Leu12fs) rs2513787289
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3482-1G>A
NM_004646.4(NPHS1):c.3482-2A>C rs2513754603
NM_004646.4(NPHS1):c.3482G>T (p.Gly1161Val) rs386833939
NM_004646.4(NPHS1):c.349_357delinsTATA (p.Glu117fs) rs2513784818
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.3554_3556delinsGG (p.Pro1185fs)
NM_004646.4(NPHS1):c.3554del (p.Pro1185fs) rs750714387
NM_004646.4(NPHS1):c.3554dup (p.Ser1186fs) rs750714387
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.3594+1G>A rs1555758856
NM_004646.4(NPHS1):c.3600_3607del rs2513749468
NM_004646.4(NPHS1):c.3613del (p.Trp1205fs) rs1555758163
NM_004646.4(NPHS1):c.3619del (p.Glu1207fs) rs1430464721
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.3696_3700del (p.Pro1233fs) rs2513749288
NM_004646.4(NPHS1):c.3699del (p.Phe1234fs) rs2513749291
NM_004646.4(NPHS1):c.3720_*9del (p.Val1241fs) rs386833941
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe) rs2513784716
NM_004646.4(NPHS1):c.397+1G>A
NM_004646.4(NPHS1):c.397+3A>G
NM_004646.4(NPHS1):c.398-1G>A rs386833942
NM_004646.4(NPHS1):c.398-1G>C rs386833942
NM_004646.4(NPHS1):c.398-2A>G rs1555763974
NM_004646.4(NPHS1):c.3G>T (p.Met1Ile)
NM_004646.4(NPHS1):c.424_425del (p.Pro142fs) rs2513784037
NM_004646.4(NPHS1):c.442dup (p.Val148fs)
NM_004646.4(NPHS1):c.444_454delinsACAC (p.Thr149fs) rs2513783938
NM_004646.4(NPHS1):c.44_45dup (p.Leu16fs) rs1555764281
NM_004646.4(NPHS1):c.450G>A (p.Trp150Ter) rs2146831207
NM_004646.4(NPHS1):c.456del (p.Gln154fs) rs1973238637
NM_004646.4(NPHS1):c.45del (p.Leu16fs) rs1555764281
NM_004646.4(NPHS1):c.466dup (p.Tyr156fs) rs2513783903
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser) rs386833944
NM_004646.4(NPHS1):c.483_484del (p.Ser162fs) rs2513783839
NM_004646.4(NPHS1):c.490del (p.Asp164fs) rs2513783827
NM_004646.4(NPHS1):c.49del (p.Leu16_Leu17insTer) rs2513787170
NM_004646.4(NPHS1):c.500C>T (p.Pro167Leu) rs386833945
NM_004646.4(NPHS1):c.502del (p.Ala168fs)
NM_004646.4(NPHS1):c.508del (p.Asp170fs) rs2513783774
NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn) rs386833946
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.516del (p.Ile173fs) rs386833948
NM_004646.4(NPHS1):c.518T>A (p.Ile173Asn) rs386833949
NM_004646.4(NPHS1):c.526+5G>C rs386833950
NM_004646.4(NPHS1):c.526+5G>T
NM_004646.4(NPHS1):c.547_548insC (p.Ile183fs) rs2513782223
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.58+1G>T rs386833954
NM_004646.4(NPHS1):c.59-1G>T rs2513786564
NM_004646.4(NPHS1):c.595del (p.Glu199fs) rs1057517275
NM_004646.4(NPHS1):c.609-2A>C rs386833955
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004646.4(NPHS1):c.641T>A (p.Leu214Ter) rs1347730847
NM_004646.4(NPHS1):c.661_662del (p.Ser221fs) rs386833957
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.712delT (p.Phe238fs) rs2513779823
NM_004646.4(NPHS1):c.713-1G>A rs2513779373
NM_004646.4(NPHS1):c.713-2A>T rs2146828046
NM_004646.4(NPHS1):c.71T>A (p.Leu24Ter) rs2513786480
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu) rs919999972
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.4(NPHS1):c.739del (p.Trp247fs) rs2513779314
NM_004646.4(NPHS1):c.792del (p.Cys265fs)
NM_004646.4(NPHS1):c.795C>A (p.Cys265Ter) rs779099247
NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer) rs1555763503
NM_004646.4(NPHS1):c.816del (p.Pro272_Leu273insTer) rs1973192389
NM_004646.4(NPHS1):c.841-2A>C rs2513778898
NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter) rs2513778871
NM_004646.4(NPHS1):c.851del (p.Pro284fs) rs1555763460
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter) rs781584590
NM_004646.4(NPHS1):c.886G>A (p.Ala296Thr) rs386833962
NM_004646.4(NPHS1):c.902_909del (p.Val301fs) rs2513778718
NM_004646.4(NPHS1):c.94del (p.Arg32fs) rs2513786321
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004924.6(ACTN4):c.175T>C (p.Trp59Arg) rs1968240092
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser) rs1568723797
NM_004924.6(ACTN4):c.493G>A (p.Ala165Thr) rs2515200645
NM_004924.6(ACTN4):c.510_512del (p.Leu171del) rs1568725026
NM_004924.6(ACTN4):c.517T>C (p.Cys173Arg) rs2515200807
NM_004924.6(ACTN4):c.718A>G (p.Met240Val) rs2515217834
NM_004924.6(ACTN4):c.757G>A (p.Asp253Asn)
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004998.4(MYO1E):c.1228G>A (p.Glu410Lys) rs2140342702
NM_004998.4(MYO1E):c.1423G>T (p.Glu475Ter)
NM_004998.4(MYO1E):c.1462C>T (p.Gln488Ter)
NM_004998.4(MYO1E):c.1506del (p.Phe502fs)
NM_004998.4(MYO1E):c.1567C>T (p.Arg523Trp) rs781347673
NM_004998.4(MYO1E):c.1631_1634del (p.Ser544fs)
NM_004998.4(MYO1E):c.1663A>T (p.Lys555Ter)
NM_004998.4(MYO1E):c.1978C>T (p.Gln660Ter) rs2140319931
NM_004998.4(MYO1E):c.2060T>C (p.Leu687Ser) rs1596351849
NM_004998.4(MYO1E):c.2145C>G (p.Tyr715Ter)
NM_004998.4(MYO1E):c.2692C>T (p.Gln898Ter)
NM_004998.4(MYO1E):c.2879del
NM_004998.4(MYO1E):c.3094_3097del (p.Thr1032fs) rs2079386835
NM_004998.4(MYO1E):c.310_313del (p.Glu104fs)
NM_004998.4(MYO1E):c.808G>T (p.Glu270Ter)
NM_005245.4(FAT1):c.12820G>T (p.Glu4274Ter) rs983524169
NM_005245.4(FAT1):c.8446_8447dup (p.Phe2817fs) rs1579327590
NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly) rs375998390
NM_005560.6(LAMA5):c.10739_10743dup (p.Arg3582fs)
NM_005560.6(LAMA5):c.5071del (p.Glu1691fs) rs2516055830
NM_005560.6(LAMA5):c.6883C>T (p.Gln2295Ter) rs2515981247
NM_005560.6(LAMA5):c.7036_7037del (p.Gln2346fs) rs2515979618
NM_005560.6(LAMA5):c.8477dup (p.Gln2827fs)
NM_005560.6(LAMA5):c.9700_9728del (p.Leu3234fs) rs2146037598
NM_006345.4(SLC30A9):c.543G>A (p.Trp181Ter) rs1412346108
NM_006345.4(SLC30A9):c.840+1G>A rs2153138452
NM_006345.4(SLC30A9):c.841-1G>A
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro) rs373832683
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) rs2108658339
NM_006580.4(CLDN16):c.130C>T (p.Arg44Ter) rs753901053
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) rs2108670592
NM_006580.4(CLDN16):c.217+1G>A rs1718987504
NM_006580.4(CLDN16):c.236G>T (p.Arg79Leu)
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) rs1577430815
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) rs104893723
NM_006580.4(CLDN16):c.3G>A (p.Met1Ile)
NM_006580.4(CLDN16):c.436C>T (p.Arg146Cys)
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) rs104893726
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) rs1577432872
NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr) rs104893728
NM_006580.4(CLDN16):c.574+2T>C rs2473800393
NM_006580.4(CLDN16):c.608_663dup (p.Arg222Ter)
NM_006642.5(SDCCAG8):c.1356+1G>C rs2147782314
NM_006642.5(SDCCAG8):c.1357-2A>G
NM_006642.5(SDCCAG8):c.1556_1557del (p.Glu519fs)
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1617-1G>A rs2528443064
NM_006642.5(SDCCAG8):c.1618C>T (p.Gln540Ter)
NM_006642.5(SDCCAG8):c.1705C>T (p.Gln569Ter)
NM_006642.5(SDCCAG8):c.1827del (p.Lys609fs)
NM_006642.5(SDCCAG8):c.1853+2T>A rs2528456354
NM_006642.5(SDCCAG8):c.1910del (p.Lys637fs)
NM_006642.5(SDCCAG8):c.1944del (p.Gln648fs)
NM_006642.5(SDCCAG8):c.1A>T (p.Met1Leu)
NM_006642.5(SDCCAG8):c.221-1G>A rs2068036602
NM_006642.5(SDCCAG8):c.25_30delinsCCCTT (p.Thr9fs)
NM_006642.5(SDCCAG8):c.307-1G>C
NM_006642.5(SDCCAG8):c.3G>A (p.Met1Ile)
NM_006642.5(SDCCAG8):c.45dup (p.Gln16fs)
NM_006642.5(SDCCAG8):c.495dup (p.Ser166fs) rs2547851230
NM_006642.5(SDCCAG8):c.506_507del (p.Gln169fs)
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter) rs767375284
NM_006642.5(SDCCAG8):c.547-1G>A rs2070433656
NM_006642.5(SDCCAG8):c.676-2A>G
NM_006642.5(SDCCAG8):c.703_704del (p.Lys235fs)
NM_006642.5(SDCCAG8):c.741-2A>G
NM_006642.5(SDCCAG8):c.834_838dup (p.Gly280fs)
NM_006642.5(SDCCAG8):c.930-2A>C
NM_006642.5(SDCCAG8):c.975del (p.Leu326fs)
NM_006642.5(SDCCAG8):c.985dup (p.Thr329fs)
NM_006984.5(CLDN10):c.142A>C (p.Asn48His) rs2501666805
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_007286.6(SYNPO):c.1808C>T (p.Pro603Leu) rs1464796596
NM_012120.3(CD2AP):c.1108+1G>T rs2481298544
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_012120.3(CD2AP):c.298C>T (p.Gln100Ter)
NM_012120.3(CD2AP):c.30T>G (p.Tyr10Ter) rs2481088488
NM_012120.3(CD2AP):c.865_868del (p.Thr289fs)
NM_012120.3(CD2AP):c.865del (p.Thr289fs)
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012301.4(MAGI2):c.147del (p.Gly50fs) rs2129210679
NM_012301.4(MAGI2):c.2269+2dup
NM_012301.4(MAGI2):c.712G>T (p.Glu238Ter)
NM_012301.4(MAGI2):c.79C>T (p.Gln27Ter)
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) rs1569234334
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) rs1554844486
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) rs1846114839
NM_013336.4(SEC61A1):c.265C>T (p.Leu89Phe) rs2473020544
NM_013338.5(ALG5):c.115C>T (p.Arg39Ter) rs2059045469
NM_013338.5(ALG5):c.239-2A>G
NM_013338.5(ALG5):c.672G>A (p.Trp224Ter) rs1326771857
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) rs1558104145
NM_014055.4(IFT81):c.1087dup (p.Gln363fs)
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr) rs1227213671
NM_014055.4(IFT81):c.1717-2A>G rs1868517084
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014140.4(SMARCAL1):c.1736C>A (p.Ser579Ter) rs1694331040
NM_014140.4(SMARCAL1):c.1822T>C (p.Phe608Leu) rs2106050388
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr) rs2106055226
NM_014270.5(SLC7A9):c.1017del (p.Val340fs)
NM_014270.5(SLC7A9):c.1032C>T (p.Ile344=)
NM_014270.5(SLC7A9):c.1071_1072del (p.Phe357fs)
NM_014270.5(SLC7A9):c.1074+5G>A
NM_014270.5(SLC7A9):c.1075-1G>A
NM_014270.5(SLC7A9):c.1137del (p.Phe380fs)
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter) rs766981518
NM_014270.5(SLC7A9):c.1225-1G>T
NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs) rs779653925
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter) rs988712826
NM_014270.5(SLC7A9):c.133G>C (p.Gly45Arg)
NM_014270.5(SLC7A9):c.1340G>A (p.Gly447Asp)
NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter) rs1967855547
NM_014270.5(SLC7A9):c.1399+4_1399+7del rs747593886
NM_014270.5(SLC7A9):c.1399+5G>C rs1599648136
NM_014270.5(SLC7A9):c.151T>C (p.Ser51Pro) rs1599688589
NM_014270.5(SLC7A9):c.1A>G (p.Met1Val)
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=) rs753121162
NM_014270.5(SLC7A9):c.227C>T (p.Ala76Val)
NM_014270.5(SLC7A9):c.265del (p.Thr88_Met89insTer) rs2145846311
NM_014270.5(SLC7A9):c.325_328del (p.Ala109fs)
NM_014270.5(SLC7A9):c.409T>C (p.Cys137Arg)
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp) rs12150890
NM_014270.5(SLC7A9):c.422A>C (p.Tyr141Ser)
NM_014270.5(SLC7A9):c.450_452del (p.Val151del) rs1294838201
NM_014270.5(SLC7A9):c.471del (p.Ala158fs)
NM_014270.5(SLC7A9):c.478+1G>A
NM_014270.5(SLC7A9):c.479-1G>A
NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter) rs748402420
NM_014270.5(SLC7A9):c.505_508del (p.Ser169fs)
NM_014270.5(SLC7A9):c.749G>A (p.Arg250Lys)
NM_014270.5(SLC7A9):c.766A>G (p.Ile256Val)
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg) rs121908483
NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser) rs1968696030
NM_014270.5(SLC7A9):c.998G>A (p.Arg333Gln)
NM_014425.5(INVS):c.1044del (p.Ile348fs)
NM_014425.5(INVS):c.107-1G>A rs2490877060
NM_014425.5(INVS):c.1207A>T (p.Lys403Ter)
NM_014425.5(INVS):c.1234+2T>A
NM_014425.5(INVS):c.1234+2T>G rs985435686
NM_014425.5(INVS):c.133_134del (p.Asp45fs)
NM_014425.5(INVS):c.1367del (p.Gly456fs) rs1564177022
NM_014425.5(INVS):c.1404T>A (p.Tyr468Ter)
NM_014425.5(INVS):c.1445del (p.Pro482fs)
NM_014425.5(INVS):c.1464+1G>A rs375753623
NM_014425.5(INVS):c.1464+1G>T rs375753623
NM_014425.5(INVS):c.1572-1G>A
NM_014425.5(INVS):c.1601dup (p.Gly534_Glu535insTer)
NM_014425.5(INVS):c.1773_1784+2dup
NM_014425.5(INVS):c.178A>T (p.Arg60Ter)
NM_014425.5(INVS):c.2069-1G>T rs1833643967
NM_014425.5(INVS):c.2160del (p.Ser721fs)
NM_014425.5(INVS):c.2225dup (p.Lys743fs) rs2490115316
NM_014425.5(INVS):c.2371C>T (p.Gln791Ter) rs750287289
NM_014425.5(INVS):c.2387_2388del (p.Gln796fs)
NM_014425.5(INVS):c.241C>T (p.Gln81Ter)
NM_014425.5(INVS):c.2448_2449delinsT (p.Glu817fs)
NM_014425.5(INVS):c.2449dup (p.Glu817fs) rs752609119
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter) rs374520570
NM_014425.5(INVS):c.273+1G>A rs375757276
NM_014425.5(INVS):c.274-2A>G rs2491192231
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2949dup (p.Lys984fs) rs1588153872
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.300dup (p.Leu101fs)
NM_014425.5(INVS):c.3062_3063del (p.Lys1021fs) rs2490137922
NM_014425.5(INVS):c.3104del (p.Gln1035fs) rs2118799345
NM_014425.5(INVS):c.320G>A (p.Trp107Ter)
NM_014425.5(INVS):c.401_413del (p.Leu134fs)
NM_014425.5(INVS):c.448-2A>G rs2491201847
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.615+1G>A rs955421639
NM_014425.5(INVS):c.778C>T (p.His260Tyr) rs2491236702
NM_014425.5(INVS):c.796+5G>A rs1272619479
NM_014425.5(INVS):c.833del (p.Asn278fs) rs1166667492
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010
NM_014425.5(INVS):c.906+1G>A rs2491245262
NM_014425.5(INVS):c.907-1G>A rs2491256806
NM_014553.3(TFCP2L1):c.689del (p.Asp230fs) rs2104690970
NM_014625.4(NPHS2):c.102delinsGG (p.Arg36fs) rs1553316648
NM_014625.4(NPHS2):c.1032del (p.Phe344fs) rs1673229720
NM_014625.4(NPHS2):c.1049del (p.Leu350fs) rs1168903863
NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs) rs2125764106
NM_014625.4(NPHS2):c.1062dup (p.Asn355fs) rs1057516900
NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr) rs2125763683
NM_014625.4(NPHS2):c.1133_1136del (p.Lys378fs)
NM_014625.4(NPHS2):c.122_135dup (p.Ser46fs) rs2526378772
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.166G>T (p.Glu56Ter) rs1167223941
NM_014625.4(NPHS2):c.166dup (p.Glu56fs) rs1553316611
NM_014625.4(NPHS2):c.167del (p.Glu56fs) rs1558355124
NM_014625.4(NPHS2):c.191_192del (p.Val64fs) rs2526377834
NM_014625.4(NPHS2):c.1A>T (p.Met1Leu) rs2101887841
NM_014625.4(NPHS2):c.244del (p.Ala82fs) rs2526376882
NM_014625.4(NPHS2):c.249del (p.Leu84fs) rs1553316575
NM_014625.4(NPHS2):c.251T>A (p.Leu84Ter)
NM_014625.4(NPHS2):c.258_270del (p.Ser86fs) rs2526376498
NM_014625.4(NPHS2):c.274+1G>T rs2526376369
NM_014625.4(NPHS2):c.275-2A>G rs1553315173
NM_014625.4(NPHS2):c.298del (p.Ala100fs) rs1173183268
NM_014625.4(NPHS2):c.31del (p.Glu11fs) rs2526380602
NM_014625.4(NPHS2):c.31dup (p.Glu11fs) rs2526380602
NM_014625.4(NPHS2):c.358T>C (p.Ser120Pro) rs779765084
NM_014625.4(NPHS2):c.365G>C (p.Trp122Ser) rs750332447
NM_014625.4(NPHS2):c.369del (p.Cys124fs) rs1057516395
NM_014625.4(NPHS2):c.370T>C (p.Cys124Arg) rs2526313561
NM_014625.4(NPHS2):c.378+1_378+2delinsTG rs2125790074
NM_014625.4(NPHS2):c.379-2A>T
NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) rs1572282458
NM_014625.4(NPHS2):c.379del rs2526297786
NM_014625.4(NPHS2):c.393T>G (p.Tyr131Ter) rs1421217117
NM_014625.4(NPHS2):c.397del (p.Arg133fs) rs1481262338
NM_014625.4(NPHS2):c.3G>A (p.Met1Ile) rs1057516680
NM_014625.4(NPHS2):c.410_413del (p.Phe137fs) rs2526297492
NM_014625.4(NPHS2):c.413G>C (p.Arg138Pro) rs74315342
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.451+1G>C rs1674125188
NM_014625.4(NPHS2):c.451+2T>A rs786204708
NM_014625.4(NPHS2):c.452del rs1250670041
NM_014625.4(NPHS2):c.459_463del (p.Phe155fs) rs2526288830
NM_014625.4(NPHS2):c.468dup (p.Pro157fs) rs2526288643
NM_014625.4(NPHS2):c.474C>A (p.Cys158Ter)
NM_014625.4(NPHS2):c.479A>G (p.Asp160Gly) rs74315346
NM_014625.4(NPHS2):c.479A>T (p.Asp160Val) rs74315346
NM_014625.4(NPHS2):c.483del (p.Tyr162fs) rs750373262
NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys) rs786204583
NM_014625.4(NPHS2):c.50del (p.Gly17fs) rs2526380257
NM_014625.4(NPHS2):c.525_527delinsA (p.Phe176fs) rs2526288141
NM_014625.4(NPHS2):c.528_529del (p.Phe176fs) rs2526288126
NM_014625.4(NPHS2):c.535-1G>C rs1291398331
NM_014625.4(NPHS2):c.550_551del (p.Met184fs) rs1673967760
NM_014625.4(NPHS2):c.561G>A (p.Met187Ile) rs1673966819
NM_014625.4(NPHS2):c.579C>A (p.Cys193Ter) rs2526273422
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.4(NPHS2):c.593A>C (p.Glu198Ala) rs2526273309
NM_014625.4(NPHS2):c.62_63insG (p.His21fs) rs2526380104
NM_014625.4(NPHS2):c.635_636del (p.Lys212fs) rs2526273002
NM_014625.4(NPHS2):c.637G>A (p.Ala213Thr)
NM_014625.4(NPHS2):c.63dup (p.Lys22fs) rs2526380091
NM_014625.4(NPHS2):c.685C>T (p.Arg229Ter) rs1057516414
NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser) rs748812981
NM_014625.4(NPHS2):c.738+1G>A rs1673954981
NM_014625.4(NPHS2):c.738+2T>C rs1212702104
NM_014625.4(NPHS2):c.742G>A (p.Ala248Thr) rs2125780619
NM_014625.4(NPHS2):c.768G>A (p.Trp256Ter) rs2125780480
NM_014625.4(NPHS2):c.784A>T (p.Arg262Ter) rs1158299404
NM_014625.4(NPHS2):c.795-1G>A rs1057516523
NM_014625.4(NPHS2):c.795-2A>C rs1342452396
NM_014625.4(NPHS2):c.812C>T (p.Pro271Leu) rs869312747
NM_014625.4(NPHS2):c.823dup (p.Gln275fs) rs1572262824
NM_014625.4(NPHS2):c.853C>T (p.Gln285Ter) rs1572262649
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014625.4(NPHS2):c.859C>T (p.Gln287Ter) rs1057517164
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014625.4(NPHS2):c.865A>G (p.Lys289Glu) rs2526191812
NM_014625.4(NPHS2):c.873+1G>A rs1553312833
NM_014625.4(NPHS2):c.873+1G>T rs1553312833
NM_014625.4(NPHS2):c.874-1G>A rs776016942
NM_014625.4(NPHS2):c.874-1G>C
NM_014625.4(NPHS2):c.874-2A>C rs1031744496
NM_014625.4(NPHS2):c.883G>A (p.Ala295Thr) rs1673264509
NM_014625.4(NPHS2):c.896del (p.Lys299fs) rs2526152738
NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del) rs2125765369
NM_014625.4(NPHS2):c.923C>T (p.Ala308Val) rs1673255837
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys) rs1673254835
NM_014625.4(NPHS2):c.953_955del (p.Ala318del) rs1427261340
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs) rs1057516880
NM_014625.4(NPHS2):c.964C>G (p.Arg322Gly)
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter) rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln) rs776859868
NM_014625.4(NPHS2):c.988_989del (p.Leu330fs)
NM_014669.5(NUP93):c.-14-1G>A rs2144456685
NM_014669.5(NUP93):c.1709T>A (p.Val570Glu) rs1351580598
NM_014669.5(NUP93):c.1732C>T (p.Arg578Ter)
NM_014669.5(NUP93):c.1733G>C (p.Arg578Pro) rs201617246
NM_014669.5(NUP93):c.1882_1899del (p.Leu628_Lys633del) rs762403631
NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys) rs757674160
NM_014669.5(NUP93):c.1909A>G (p.Lys637Glu) rs1596861969
NM_014669.5(NUP93):c.406G>T (p.Glu136Ter)
NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser) rs549149043
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) rs1599751192
NM_014714.4(IFT140):c.1010-6_1013del
NM_014714.4(IFT140):c.1107G>A (p.Trp369Ter)
NM_014714.4(IFT140):c.1158G>A (p.Trp386Ter)
NM_014714.4(IFT140):c.1167del (p.Lys390fs) rs1085307074
NM_014714.4(IFT140):c.1229C>A (p.Ser410Ter)
NM_014714.4(IFT140):c.1288_1289dup (p.Phe431fs)
NM_014714.4(IFT140):c.1359+1G>A rs2034739931
NM_014714.4(IFT140):c.1359+1G>C
NM_014714.4(IFT140):c.1359_1359+3delinsAC rs2141816540
NM_014714.4(IFT140):c.1432+1G>A
NM_014714.4(IFT140):c.146_147+2del rs2142099151
NM_014714.4(IFT140):c.147+2T>G rs2508713536
NM_014714.4(IFT140):c.148-2A>G rs775682083
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014714.4(IFT140):c.1525-2_1525-1del rs1567386464
NM_014714.4(IFT140):c.1536_1539del (p.Lys512fs)
NM_014714.4(IFT140):c.1619T>A (p.Leu540Ter)
NM_014714.4(IFT140):c.1619dup (p.Leu540fs)
NM_014714.4(IFT140):c.1652+1G>T
NM_014714.4(IFT140):c.1653-2A>G
NM_014714.4(IFT140):c.1655_1656del rs2033836650
NM_014714.4(IFT140):c.166dup (p.Thr56fs)
NM_014714.4(IFT140):c.168_171del (p.His57fs) rs2508572124
NM_014714.4(IFT140):c.175G>T (p.Glu59Ter)
NM_014714.4(IFT140):c.1770+1G>A
NM_014714.4(IFT140):c.1823_1824del (p.Thr608fs)
NM_014714.4(IFT140):c.1867_1870del (p.Glu623fs) rs1226646214
NM_014714.4(IFT140):c.1944del (p.Pro648_Val649insTer)
NM_014714.4(IFT140):c.1968_1969delinsCT (p.Glu657Ter)
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2200-1_2200delinsAG rs2507094576
NM_014714.4(IFT140):c.2400-13_2409del
NM_014714.4(IFT140):c.2400-1G>A rs2506136762
NM_014714.4(IFT140):c.2400-2A>G rs1555478654
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) rs2141185231
NM_014714.4(IFT140):c.2464del (p.Val822fs)
NM_014714.4(IFT140):c.2471T>C (p.Leu824Pro)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2548dup (p.Ala850fs)
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2638C>T (p.Gln880Ter)
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs) rs2506128598
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.2769-1G>T
NM_014714.4(IFT140):c.2769-1del
NM_014714.4(IFT140):c.2828_2829dup (p.Ser944fs)
NM_014714.4(IFT140):c.2864+1G>A
NM_014714.4(IFT140):c.2864+2T>C rs2506121441
NM_014714.4(IFT140):c.2872_2875delinsGT (p.Trp958fs)
NM_014714.4(IFT140):c.2882G>A (p.Trp961Ter)
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.2997+1G>C rs2506115448
NM_014714.4(IFT140):c.2997+2T>C rs2506115439
NM_014714.4(IFT140):c.2998-2del rs2141171226
NM_014714.4(IFT140):c.299del (p.Leu100fs)
NM_014714.4(IFT140):c.308_309del (p.Thr103fs) rs1172857937
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) rs774547622
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3219C>A (p.Tyr1073Ter)
NM_014714.4(IFT140):c.3222C>G (p.Tyr1074Ter)
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.332G>A (p.Trp111Ter)
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3454-1G>A
NM_014714.4(IFT140):c.3484C>T (p.Gln1162Ter)
NM_014714.4(IFT140):c.370-2A>T
NM_014714.4(IFT140):c.370-3_370-1delinsAA rs2035236903
NM_014714.4(IFT140):c.3777del (p.Trp1259fs)
NM_014714.4(IFT140):c.390G>A (p.Trp130Ter)
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.3963_3978del (p.Ser1321fs)
NM_014714.4(IFT140):c.3981del (p.Arg1328fs) rs1431530916
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.648T>G (p.Tyr216Ter) rs2507935242
NM_014714.4(IFT140):c.662del (p.Gly221fs)
NM_014714.4(IFT140):c.739del (p.Val247fs)
NM_014714.4(IFT140):c.742del (p.Val248fs)
NM_014714.4(IFT140):c.810+1G>A
NM_014714.4(IFT140):c.811-2A>G rs1596419766
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.886G>T (p.Gly296Trp) rs574450870
NM_014714.4(IFT140):c.903-1G>A rs1567407044
NM_014714.4(IFT140):c.909G>A (p.Trp303Ter)
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_014714.4(IFT140):c.996C>G (p.Tyr332Ter)
NM_014804.3(KIAA0753):c.2675del (p.Pro892fs)
NM_014956.5(CEP164):c.1069dup (p.Glu357fs)
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer) rs2541303541
NM_014956.5(CEP164):c.1234-2A>T rs2541381382
NM_014956.5(CEP164):c.1298del (p.Leu433fs) rs2541384185
NM_014956.5(CEP164):c.1317+2T>G
NM_014956.5(CEP164):c.1318-13_1319del rs2541521563
NM_014956.5(CEP164):c.1409+2T>C rs1222305871
NM_014956.5(CEP164):c.1687del (p.Val563fs)
NM_014956.5(CEP164):c.185G>A (p.Trp62Ter)
NM_014956.5(CEP164):c.1934+1G>A rs951827564
NM_014956.5(CEP164):c.1935-1G>C
NM_014956.5(CEP164):c.1935-1G>T
NM_014956.5(CEP164):c.194+2T>C rs2540461335
NM_014956.5(CEP164):c.2110del (p.Glu704fs)
NM_014956.5(CEP164):c.2280dup (p.Glu761fs)
NM_014956.5(CEP164):c.2283+1G>C rs1166097710
NM_014956.5(CEP164):c.2283+2T>C rs1459158279
NM_014956.5(CEP164):c.2284-1G>A rs1391874809
NM_014956.5(CEP164):c.2361+1G>A rs2044759367
NM_014956.5(CEP164):c.2362-1G>T rs1380436983
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs) rs2044893024
NM_014956.5(CEP164):c.2536dup (p.Glu846fs)
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_014956.5(CEP164):c.2608G>T (p.Glu870Ter) rs2541982138
NM_014956.5(CEP164):c.2616+1G>A rs2136378484
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter) rs373403222
NM_014956.5(CEP164):c.2914-1G>C rs1218292786
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.3216+1del rs2542174972
NM_014956.5(CEP164):c.3355C>T (p.Gln1119Ter)
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.347dup (p.Glu117fs) rs751277203
NM_014956.5(CEP164):c.3749-2A>G rs1482717760
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter) rs2047135088
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs) rs771312858
NM_014956.5(CEP164):c.4096+1G>C rs780888941
NM_014956.5(CEP164):c.4287-1G>T
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014956.5(CEP164):c.552+1G>C rs2041038603
NM_014956.5(CEP164):c.553-1G>A rs2041099865
NM_014956.5(CEP164):c.559C>T (p.Gln187Ter)
NM_014956.5(CEP164):c.580del (p.Tyr194fs)
NM_014956.5(CEP164):c.623_626delinsTGA (p.Ala208fs)
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer) rs1402460878
NM_014956.5(CEP164):c.765+1G>A rs2041251614
NM_014956.5(CEP164):c.766-2A>G rs2135912935
NM_014956.5(CEP164):c.893_894delinsAAA (p.Gly298fs)
NM_014956.5(CEP164):c.912_913dup (p.Gly305fs)
NM_014967.5(FAN1):c.1232C>A (p.Ser411Ter)
NM_014967.5(FAN1):c.1275_1279dup (p.Ser427delinsAsnTer)
NM_014967.5(FAN1):c.1375+1G>A rs1305708707
NM_014967.5(FAN1):c.141C>A (p.Cys47Ter) rs144469584
NM_014967.5(FAN1):c.1746_1759del (p.Met582fs)
NM_014967.5(FAN1):c.1859_1865del (p.Ala620fs)
NM_014967.5(FAN1):c.1943+1G>A
NM_014967.5(FAN1):c.1991G>A (p.Trp664Ter)
NM_014967.5(FAN1):c.2086C>T (p.Gln696Ter) rs2062351829
NM_014967.5(FAN1):c.2090_2091del (p.Arg697fs)
NM_014967.5(FAN1):c.2116C>T (p.Arg706Ter)
NM_014967.5(FAN1):c.2123G>A (p.Trp708Ter)
NM_014967.5(FAN1):c.2299C>T (p.Gln767Ter)
NM_014967.5(FAN1):c.2489-1G>A
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter) rs767651793
NM_014967.5(FAN1):c.2854del (p.Arg952fs)
NM_014967.5(FAN1):c.2891_2894dup (p.Asn965fs)
NM_014967.5(FAN1):c.28A>T (p.Lys10Ter)
NM_014967.5(FAN1):c.2912_2916delinsAA (p.Phe971_Lys972delinsTer)
NM_014967.5(FAN1):c.2916+2T>G
NM_014967.5(FAN1):c.31_34del (p.Lys11fs)
NM_014967.5(FAN1):c.32_35del (p.Lys11fs)
NM_014967.5(FAN1):c.332del (p.Pro111fs) rs2140895653
NM_014967.5(FAN1):c.346dup (p.Ser116fs)
NM_014967.5(FAN1):c.474dup (p.Leu159fs)
NM_014967.5(FAN1):c.560_561del (p.Thr187fs) rs772700881
NM_014967.5(FAN1):c.590C>A (p.Ser197Ter)
NM_014967.5(FAN1):c.652del (p.Cys218fs)
NM_014967.5(FAN1):c.706_709del (p.Ile236fs)
NM_014967.5(FAN1):c.791dup (p.Leu264fs)
NM_014967.5(FAN1):c.871G>T (p.Glu291Ter)
NM_014967.5(FAN1):c.922_923del (p.Val308fs) rs774499986
NM_014967.5(FAN1):c.943C>T (p.Gln315Ter)
NM_014994.3(MAPKBP1):c.2227C>T (p.Gln743Ter) rs2551103543
NM_014994.3(MAPKBP1):c.4299+1G>A
NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter) rs1596088812
NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs) rs869320624
NM_015102.5(NPHP4):c.1042_1043dup (p.Met348fs) rs1647148516
NM_015102.5(NPHP4):c.107del (p.Lys36fs)
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs) rs1570504754
NM_015102.5(NPHP4):c.1188del (p.Leu397fs)
NM_015102.5(NPHP4):c.1323_1324insTCACTCCGACTCCAGTTCTGGAACTGGA (p.Thr442fs)
NM_015102.5(NPHP4):c.135_135+14del rs1557895715
NM_015102.5(NPHP4):c.135_135+8del rs2102455183
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.1503+1G>T rs765460065
NM_015102.5(NPHP4):c.1692_1704del (p.Ala565fs) rs1179512510
NM_015102.5(NPHP4):c.1764-2A>G
NM_015102.5(NPHP4):c.1781C>A (p.Ser594Ter)
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) rs747699128
NM_015102.5(NPHP4):c.1843C>T (p.Gln615Ter)
NM_015102.5(NPHP4):c.186_189del (p.Phe62fs)
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.1956-1G>A
NM_015102.5(NPHP4):c.2007del (p.Phe670fs) rs1235304713
NM_015102.5(NPHP4):c.2327del (p.Pro776fs) rs1643882944
NM_015102.5(NPHP4):c.2606C>G (p.Ser869Ter)
NM_015102.5(NPHP4):c.2611+2_2611+3del rs2100733763
NM_015102.5(NPHP4):c.2686del (p.Arg896fs) rs761183927
NM_015102.5(NPHP4):c.2689C>T (p.Gln897Ter)
NM_015102.5(NPHP4):c.279+1G>A rs2523978952
NM_015102.5(NPHP4):c.280-1G>C rs1652115764
NM_015102.5(NPHP4):c.2817+1G>A rs1642683882
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) rs1168286961
NM_015102.5(NPHP4):c.2945_2946dup (p.Ala983fs)
NM_015102.5(NPHP4):c.2995dup (p.His999fs)
NM_015102.5(NPHP4):c.3004_3005dup (p.Gln1002fs)
NM_015102.5(NPHP4):c.3044+1G>T rs1294693530
NM_015102.5(NPHP4):c.305_306del (p.Asn102fs)
NM_015102.5(NPHP4):c.3062del (p.Gln1021fs) rs2523123174
NM_015102.5(NPHP4):c.3069del (p.Glu1022_Trp1023insTer)
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs) rs1557616007
NM_015102.5(NPHP4):c.3148del (p.Gln1050fs) rs2100620614
NM_015102.5(NPHP4):c.3231+1G>A rs1642345798
NM_015102.5(NPHP4):c.3368_3369del (p.Val1123fs) rs1474013513
NM_015102.5(NPHP4):c.3394C>T (p.Gln1132Ter)
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter) rs2100466824
NM_015102.5(NPHP4):c.3473-1G>T rs564232197
NM_015102.5(NPHP4):c.3490_3491delinsA (p.Leu1164fs) rs1641316046
NM_015102.5(NPHP4):c.3641A>G (p.Tyr1214Cys)
NM_015102.5(NPHP4):c.3644+1G>A rs756111113
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3739del (p.Arg1247fs)
NM_015102.5(NPHP4):c.3817-12_3818del
NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro) rs765043646
NM_015102.5(NPHP4):c.4141-2A>G
NM_015102.5(NPHP4):c.452+1G>A rs1195128294
NM_015102.5(NPHP4):c.452+1G>T rs1195128294
NM_015102.5(NPHP4):c.453-1G>T
NM_015102.5(NPHP4):c.453-2A>G
NM_015102.5(NPHP4):c.55C>T (p.Gln19Ter)
NM_015102.5(NPHP4):c.674-2A>G rs867255315
NM_015102.5(NPHP4):c.811-2A>G
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715
NM_015102.5(NPHP4):c.992+1G>T rs1439234327
NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro) rs1584675898
NM_015365.3(AMMECR1):c.790+1G>A
NM_015375.3(DSTYK):c.1053dup (p.Gln352fs) rs2102413524
NM_015375.3(DSTYK):c.1394A>G (p.Gln465Arg) rs2526841964
NM_015375.3(DSTYK):c.1477G>T (p.Gly493Ter) rs746112821
NM_015375.3(DSTYK):c.889del (p.Glu297fs)
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) rs1555706928
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys) rs146820102
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer) rs1453282096
NM_015662.3(IFT172):c.1167+1G>A
NM_015662.3(IFT172):c.1221+1G>A
NM_015662.3(IFT172):c.1222-1G>A
NM_015662.3(IFT172):c.1304del (p.Phe435fs)
NM_015662.3(IFT172):c.1326-1G>A rs781527567
NM_015662.3(IFT172):c.133G>T (p.Glu45Ter)
NM_015662.3(IFT172):c.1411+2T>C rs2465979379
NM_015662.3(IFT172):c.1524+2_1524+3del rs769575051
NM_015662.3(IFT172):c.1525-2A>G
NM_015662.3(IFT172):c.1627C>T (p.Arg543Ter)
NM_015662.3(IFT172):c.1692+1G>A
NM_015662.3(IFT172):c.1693-1G>A rs780210480
NM_015662.3(IFT172):c.184-1G>A
NM_015662.3(IFT172):c.184-2A>C rs2148559396
NM_015662.3(IFT172):c.1846G>T (p.Glu616Ter)
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs) rs1369586774
NM_015662.3(IFT172):c.2074del (p.Glu692fs)
NM_015662.3(IFT172):c.2116-2A>G rs1393522194
NM_015662.3(IFT172):c.2212A>T (p.Lys738Ter)
NM_015662.3(IFT172):c.2251C>T (p.Gln751Ter)
NM_015662.3(IFT172):c.2443-1G>C
NM_015662.3(IFT172):c.2456_2457del (p.Leu818_Phe819insTer)
NM_015662.3(IFT172):c.2521+1G>A rs2148505406
NM_015662.3(IFT172):c.2521+1G>T rs2148505406
NM_015662.3(IFT172):c.2584dup (p.Asp862fs) rs1489674192
NM_015662.3(IFT172):c.2629_2630dup (p.Ile878fs)
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter) rs1309394469
NM_015662.3(IFT172):c.3111+1del
NM_015662.3(IFT172):c.3218_3223delinsTACCTGA (p.Glu1073fs)
NM_015662.3(IFT172):c.336+2T>G rs2466031050
NM_015662.3(IFT172):c.3712-2A>T rs2465833474
NM_015662.3(IFT172):c.3822-2_3822-1del rs2465831120
NM_015662.3(IFT172):c.3880del (p.Arg1294fs)
NM_015662.3(IFT172):c.3952-1G>C rs2148479160
NM_015662.3(IFT172):c.402+2T>C rs774548930
NM_015662.3(IFT172):c.4051-1G>A rs1665487115
NM_015662.3(IFT172):c.4224+1G>A
NM_015662.3(IFT172):c.4280G>A (p.Trp1427Ter)
NM_015662.3(IFT172):c.4311+1G>A rs2148477195
NM_015662.3(IFT172):c.4429-178_4436del rs2465806368
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs) rs2148467517
NM_015662.3(IFT172):c.4815+2_4815+3del rs2148467424
NM_015662.3(IFT172):c.482+1G>A rs2466025777
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.5069-2A>G rs2148464837
NM_015662.3(IFT172):c.570+1G>A
NM_015662.3(IFT172):c.786-2A>G rs757253624
NM_015662.3(IFT172):c.910-2A>G rs2148546998
NM_015662.3(IFT172):c.978dup (p.Glu327Ter) rs2465998558
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015693.4(INTU):c.1305dup (p.Asn436Ter) rs1729889650
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp) rs1810682433
NM_016008.4(DYNC2LI1):c.1008C>A (p.Tyr336Ter)
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_016122.3(CEP83):c.1052T>G (p.Leu351Ter)
NM_016122.3(CEP83):c.2024T>C (p.Leu675Pro)
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_016306.6(DNAJB11):c.266dup (p.Tyr89Ter) rs2474564821
NM_016306.6(DNAJB11):c.324-1G>T
NM_016306.6(DNAJB11):c.532del (p.Thr178fs)
NM_016306.6(DNAJB11):c.544_550del (p.Pro182fs) rs2474576556
NM_016306.6(DNAJB11):c.635_636del (p.Ile212fs) rs2474578114
NM_016306.6(DNAJB11):c.763_767del (p.Arg254_Gly255insTer)
NM_016341.4(PLCE1):c.1709del (p.Ser570fs) rs2136320656
NM_016341.4(PLCE1):c.1809+1G>C rs2494255828
NM_016341.4(PLCE1):c.2148del (p.Asp718fs)
NM_016341.4(PLCE1):c.2576_2577insT (p.Gln859fs) rs2137512478
NM_016341.4(PLCE1):c.3081C>A (p.Tyr1027Ter)
NM_016341.4(PLCE1):c.3260del (p.Lys1087fs) rs2496086396
NM_016341.4(PLCE1):c.3338_3339del (p.Lys1113fs) rs918508213
NM_016341.4(PLCE1):c.3379_3380del (p.Ile1126_Asn1127insTer) rs2132855762
NM_016341.4(PLCE1):c.3698T>C (p.Leu1233Pro) rs1589433172
NM_016341.4(PLCE1):c.369T>A (p.Tyr123Ter)
NM_016341.4(PLCE1):c.4182_4201dup (p.Tyr1401fs) rs2051495579
NM_016341.4(PLCE1):c.4301G>A (p.Arg1434Gln) rs2496494951
NM_016341.4(PLCE1):c.4506+1G>A rs2133127091
NM_016341.4(PLCE1):c.4506+2T>C rs2133127123
NM_016341.4(PLCE1):c.4580_4582delinsT (p.Ser1527fs)
NM_016341.4(PLCE1):c.4781_4782dup (p.Ser1595fs)
NM_016341.4(PLCE1):c.4887del (p.Ala1630fs) rs747229979
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) rs1589475328
NM_016341.4(PLCE1):c.5521A>G (p.Lys1841Glu) rs2133612592
NM_016341.4(PLCE1):c.5559T>G (p.Tyr1853Ter) rs1589509476
NM_016341.4(PLCE1):c.5677G>T (p.Glu1893Ter)
NM_016341.4(PLCE1):c.5951_5953del (p.Asn1984del) rs2133673643
NM_016341.4(PLCE1):c.6132+1G>A
NM_016341.4(PLCE1):c.6901C>T (p.Arg2301Ter) rs1193230553
NM_016343.4(CENPF):c.997_1012del (p.Glu333fs) rs1657525413
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs) rs1760494153
NM_016356.5(DCDC2):c.289_292del (p.Leu97fs)
NM_016356.5(DCDC2):c.38dup (p.Pro14fs)
NM_016356.5(DCDC2):c.549dup (p.Val184fs) rs1581640646
NM_016356.5(DCDC2):c.558G>C (p.Arg186Ser)
NM_016356.5(DCDC2):c.604G>T (p.Glu202Ter)
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter) rs760084731
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016592.5(GNAS):c.175C>T (p.Gln59Ter)
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter) rs2085661524
NM_017412.4(FZD3):c.1616dup (p.Asp539fs) rs1563406024
NM_017415.3(KLHL3):c.1000C>T (p.Pro334Ser) rs2149885426
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) rs199469640
NM_017415.3(KLHL3):c.1291C>T (p.Arg431Trp)
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) rs199469631
NM_017415.3(KLHL3):c.1519G>A (p.Val507Ile) rs863225302
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017415.3(KLHL3):c.234G>A (p.Met78Ile)
NM_017649.5(CNNM2):c.1003G>A (p.Asp335Asn) rs2493375756
NM_017649.5(CNNM2):c.1067G>A (p.Gly356Glu)
NM_017649.5(CNNM2):c.1764C>G (p.Tyr588Ter)
NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter) rs2134338484
NM_017649.5(CNNM2):c.1862C>A (p.Ser621Ter)
NM_017649.5(CNNM2):c.2576G>A (p.Cys859Tyr)
NM_017649.5(CNNM2):c.312_315dup (p.Tyr106fs) rs2134149229
NM_017649.5(CNNM2):c.522dup (p.Ile175fs) rs2134149603
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017649.5(CNNM2):c.992C>T (p.Thr331Ile) rs2493375718
NM_017662.5(TRPM6):c.1018C>T (p.Arg340Ter)
NM_017662.5(TRPM6):c.1191_1192del (p.Thr398fs)
NM_017662.5(TRPM6):c.1238_1242dup (p.Ala415fs)
NM_017662.5(TRPM6):c.1523del (p.Ile508fs)
NM_017662.5(TRPM6):c.1638+7T>C
NM_017662.5(TRPM6):c.1958dup (p.Glu654fs)
NM_017662.5(TRPM6):c.2167_2170del (p.Thr723fs)
NM_017662.5(TRPM6):c.2343G>A (p.Trp781Ter)
NM_017662.5(TRPM6):c.238C>T (p.Gln80Ter)
NM_017662.5(TRPM6):c.2495A>G (p.Tyr832Cys) rs1060499646
NM_017662.5(TRPM6):c.2919+2T>C
NM_017662.5(TRPM6):c.2920-806_3404-1965del
NM_017662.5(TRPM6):c.2998dup (p.Ser1000fs) rs2489968400
NM_017662.5(TRPM6):c.3014del (p.Pro1005fs)
NM_017662.5(TRPM6):c.3500del (p.Cys1167fs)
NM_017662.5(TRPM6):c.3537-1G>A
NM_017662.5(TRPM6):c.3634C>T (p.Gln1212Ter)
NM_017662.5(TRPM6):c.3895dup (p.Ala1299fs) rs2489896470
NM_017662.5(TRPM6):c.4287C>A (p.Cys1429Ter)
NM_017662.5(TRPM6):c.4412del (p.Lys1471fs)
NM_017662.5(TRPM6):c.4440T>A (p.Cys1480Ter)
NM_017662.5(TRPM6):c.492del (p.Ala166fs)
NM_017662.5(TRPM6):c.4945_4948del (p.Glu1649fs)
NM_017662.5(TRPM6):c.5785del (p.Glu1929fs)
NM_017662.5(TRPM6):c.5798del (p.Asp1933fs)
NM_017662.5(TRPM6):c.5827C>T (p.Gln1943Ter)
NM_017662.5(TRPM6):c.756T>A (p.Asp252Glu) rs1587550393
NM_017752.3(TBC1D8B):c.2091del (p.Asp698fs)
NM_017752.3(TBC1D8B):c.607del (p.Asp203fs)
NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His) rs761410195
NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser) rs1602413491
NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs) rs1554460624
NM_018051.5(DYNC2I1):c.1358-2A>G
NM_018051.5(DYNC2I1):c.2503_2505dup (p.Arg835dup) rs1554478948
NM_018051.5(DYNC2I1):c.490+1G>A
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs) rs1843823774
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu) rs899172501
NM_018230.3(NUP133):c.196C>T (p.Arg66Ter) rs760521214
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg) rs1558091788
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) rs1558108130
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) rs1556009247
NM_018979.4(WNK1):c.1400+1G>A rs2548597368
NM_018979.4(WNK1):c.1748dup (p.Gln584fs) rs746484082
NM_018979.4(WNK1):c.1905T>A (p.Asp635Glu) rs770961582
NM_018979.4(WNK1):c.2140-2A>G rs2548836529
NM_018979.4(WNK1):c.2832+1G>C
NM_018979.4(WNK1):c.3845-2A>G rs2549037336
NM_018979.4(WNK1):c.4507_4514dup (p.Cys1506fs)
NM_018979.4(WNK1):c.5448+1G>T rs1953966878
NM_018979.4(WNK1):c.6448+2T>C rs2154096075
NM_019851.3(FGF20):c.391-1G>A rs1585100306
NM_020041.3(SLC2A9):c.1202C>T (p.Thr401Met)
NM_020041.3(SLC2A9):c.151-1G>A
NM_020041.3(SLC2A9):c.1557dup (p.Ala520fs)
NM_020041.3(SLC2A9):c.570T>G (p.Ser190Arg)
NM_020401.4(NUP107):c.2544_2555del (p.Leu848_Leu852delinsPhe) rs2136056550
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys) rs1565707103
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr) rs864321633
NM_020632.3(ATP6V0A4):c.1180+1del rs1064796270
NM_020632.3(ATP6V0A4):c.1181-1G>A
NM_020632.3(ATP6V0A4):c.1187dup (p.Tyr396Ter) rs1806015333
NM_020632.3(ATP6V0A4):c.1206del (p.Phe403fs)
NM_020632.3(ATP6V0A4):c.1271G>A (p.Trp424Ter)
NM_020632.3(ATP6V0A4):c.1346G>T (p.Arg449Leu)
NM_020632.3(ATP6V0A4):c.1384A>C (p.Thr462Pro)
NM_020632.3(ATP6V0A4):c.1478+2T>A
NM_020632.3(ATP6V0A4):c.1479-1G>A rs2485855918
NM_020632.3(ATP6V0A4):c.1531G>T (p.Gly511Ter) rs2485855763
NM_020632.3(ATP6V0A4):c.1572+2T>C
NM_020632.3(ATP6V0A4):c.1573-1G>T
NM_020632.3(ATP6V0A4):c.1691+2T>G
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.188_189del (p.Arg63fs)
NM_020632.3(ATP6V0A4):c.2011-2A>G
NM_020632.3(ATP6V0A4):c.2011-2A>T rs1209458962
NM_020632.3(ATP6V0A4):c.2139+1G>T rs2485806968
NM_020632.3(ATP6V0A4):c.217C>T (p.Gln73Ter)
NM_020632.3(ATP6V0A4):c.221del (p.Asn74fs) rs756281918
NM_020632.3(ATP6V0A4):c.2336_2346del (p.Phe779fs)
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) rs934266733
NM_020632.3(ATP6V0A4):c.2521T>C (p.Ter841Gln) rs2117166318
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.387C>A (p.Tyr129Ter)
NM_020632.3(ATP6V0A4):c.522del (p.Gly175fs)
NM_020632.3(ATP6V0A4):c.671_673delinsAA (p.Ile224fs)
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del) rs746982385
NM_020632.3(ATP6V0A4):c.722+1del
NM_020632.3(ATP6V0A4):c.816_817insA (p.Val273fs)
NM_020632.3(ATP6V0A4):c.833_834del (p.Glu278fs) rs1408988926
NM_020632.3(ATP6V0A4):c.952C>T (p.Gln318Ter)
NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1362del (p.Asn455fs) rs772534528
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys) rs1558342399
NM_020779.4(WDR35):c.1744C>T (p.Arg582Ter) rs778613849
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.2142_2152del (p.Tyr714_Lys718delinsTer)
NM_020779.4(WDR35):c.2320del (p.Gln774fs)
NM_020779.4(WDR35):c.24+2T>C
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020779.4(WDR35):c.2509dup (p.Leu837fs)
NM_020779.4(WDR35):c.2844del (p.Gly950fs)
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs1490771127
NM_020779.4(WDR35):c.308-1G>T
NM_020779.4(WDR35):c.324_325dup (p.Met109fs) rs745486923
NM_020779.4(WDR35):c.570+2T>G rs2527956878
NM_020779.4(WDR35):c.906del (p.Gly303fs)
NM_020800.3(IFT80):c.1095del (p.Pro366fs)
NM_020800.3(IFT80):c.1152-1G>C rs777519235
NM_020800.3(IFT80):c.1380+1G>T
NM_020800.3(IFT80):c.1380+2del rs2108240653
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter) rs369779153
NM_020800.3(IFT80):c.1516+1G>C
NM_020800.3(IFT80):c.1516+2T>C rs758820425
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.1664+1G>A rs2473112324
NM_020800.3(IFT80):c.1665-1G>C
NM_020800.3(IFT80):c.1665-1del rs2473107231
NM_020800.3(IFT80):c.1961dup (p.Asn654fs) rs779179710
NM_020800.3(IFT80):c.1994del (p.Ile665fs)
NM_020800.3(IFT80):c.1A>G (p.Met1Val)
NM_020800.3(IFT80):c.248_249del (p.Thr83fs)
NM_020800.3(IFT80):c.259+1G>T
NM_020800.3(IFT80):c.370+2T>G
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.439+1G>A
NM_020800.3(IFT80):c.440-2A>G rs1721846338
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) rs1553764834
NM_020800.3(IFT80):c.544_545dup (p.Leu182fs)
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.755dup (p.Leu252fs)
NM_020800.3(IFT80):c.958-1G>T rs202051267
NM_020856.4(TSHZ3):c.172A>G (p.Ser58Gly)
NM_020856.4(TSHZ3):c.188C>T (p.Pro63Leu)
NM_021244.5(RRAGD):c.299T>G (p.Ile100Arg) rs2533173218
NM_022042.4(SLC26A1):c.514G>A (p.Gly172Arg)
NM_022098.4(XPNPEP3):c.1055+2T>G rs769010051
NM_022098.4(XPNPEP3):c.1194_1200del (p.Asp398fs) rs2517999041
NM_022098.4(XPNPEP3):c.130C>T (p.Arg44Ter)
NM_022098.4(XPNPEP3):c.466C>T (p.Arg156Ter)
NM_022098.4(XPNPEP3):c.499C>T (p.Arg167Ter)
NM_022098.4(XPNPEP3):c.589+1G>T
NM_022098.4(XPNPEP3):c.658C>T (p.Gln220Ter) rs2517973284
NM_022098.4(XPNPEP3):c.760C>T (p.Arg254Ter)
NM_022098.4(XPNPEP3):c.855+1G>A
NM_022098.4(XPNPEP3):c.937_938del (p.Leu313fs)
NM_022098.4(XPNPEP3):c.97del (p.Leu33fs)
NM_022436.3(ABCG5):c.576del (p.Ile193fs) rs2466053172
NM_022489.4(INF2):c.137C>G (p.Ser46Cys) rs1889493279
NM_022489.4(INF2):c.161G>C (p.Arg54Pro) rs866348422
NM_022489.4(INF2):c.167G>A (p.Arg56His) rs1595163730
NM_022489.4(INF2):c.1735+1G>A rs2140670271
NM_022489.4(INF2):c.218G>A (p.Gly73Asp) rs918089359
NM_022489.4(INF2):c.315_323del (p.Arg106_Val108del) rs2504233229
NM_022489.4(INF2):c.353T>A (p.Ile118Asn) rs2140639518
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.451T>C (p.Cys151Arg) rs2504241662
NM_022489.4(INF2):c.470G>A (p.Gly157Asp) rs2140647207
NM_022489.4(INF2):c.481A>C (p.Thr161Pro)
NM_022489.4(INF2):c.485T>C (p.Leu162Pro) rs2140647298
NM_022489.4(INF2):c.529C>T (p.Arg177Cys) rs1595166085
NM_022489.4(INF2):c.532T>G (p.Phe178Val) rs2140648131
NM_022489.4(INF2):c.578A>G (p.Tyr193Cys) rs2504243195
NM_022489.4(INF2):c.604A>G (p.Asn202Asp) rs2504243379
NM_022489.4(INF2):c.605A>G (p.Asn202Ser) rs2140648522
NM_022489.4(INF2):c.640C>G (p.Arg214Gly) rs912928648
NM_022489.4(INF2):c.641G>T (p.Arg214Leu)
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_024079.5(ALG8):c.1114dup (p.Ser372fs)
NM_024079.5(ALG8):c.547-2A>G
NM_024079.5(ALG8):c.964C>T (p.Gln322Ter)
NM_024426.6(WT1):c.1016+1G>A rs2133032244
NM_024426.6(WT1):c.1016+2T>G rs1852674417
NM_024426.6(WT1):c.1114-1G>T rs1851976798
NM_024426.6(WT1):c.1142del (p.Pro381fs) rs1564972993
NM_024426.6(WT1):c.1207T>G (p.Cys403Gly) rs2132940074
NM_024426.6(WT1):c.1245dup (p.His416fs) rs2132939399
NM_024426.6(WT1):c.1259A>C (p.His420Pro) rs1554939785
NM_024426.6(WT1):c.1265G>T (p.Gly422Val) rs869025561
NM_024426.6(WT1):c.1268A>G (p.Glu423Gly) rs2132921573
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly) rs121907905
NM_024426.6(WT1):c.1322A>T (p.Asp441Val) rs2132920206
NM_024426.6(WT1):c.1354+2T>C rs2132919280
NM_024426.6(WT1):c.1355G>A (p.Gly452Asp) rs2132915429
NM_024426.6(WT1):c.1367T>G (p.Phe456Cys) rs2494732361
NM_024426.6(WT1):c.1384C>T (p.Gln462Ter) rs2132914929
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691
NM_024426.6(WT1):c.1394T>C (p.Phe465Ser) rs2132914663
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr) rs28941778
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly) rs121907902
NM_024426.6(WT1):c.1426del (p.Arg476fs)
NM_024426.6(WT1):c.1433A>G (p.His478Arg)
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1498C>T (p.Arg500Trp) rs2132898935
NM_024426.6(WT1):c.1498del (p.Arg500fs)
NM_024426.6(WT1):c.1504G>C (p.Asp502His) rs2132898667
NM_024426.6(WT1):c.392C>T (p.Pro131Leu) rs1443423967
NM_024426.6(WT1):c.410del (p.Pro137fs) rs2494480771
NM_024426.6(WT1):c.455del (p.Gly152fs) rs2133103216
NM_024426.6(WT1):c.500T>A (p.Val167Asp) rs1853443391
NM_024426.6(WT1):c.512G>T (p.Gly171Val) rs1554946480
NM_024426.6(WT1):c.649A>G (p.Ile217Val) rs1384974578
NM_024426.6(WT1):c.863T>A (p.Leu288Ter)
NM_024426.6(WT1):c.888-2A>G
NM_024426.6(WT1):c.896T>A (p.Leu299Ter) rs2494370978
NM_024426.6(WT1):c.965+2T>C rs2133036598
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1088-1G>A rs753627675
NM_024753.5(TTC21B):c.1176_1185del (p.Lys393fs)
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs) rs1686551975
NM_024753.5(TTC21B):c.1516+1G>A rs2468197052
NM_024753.5(TTC21B):c.1516+2T>G rs748598334
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer) rs2105329247
NM_024753.5(TTC21B):c.1713_1719delinsCAC (p.Gln571fs)
NM_024753.5(TTC21B):c.1900-1G>T rs1244170961
NM_024753.5(TTC21B):c.1900-2A>G rs2468177005
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter) rs1559056633
NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) rs759648976
NM_024753.5(TTC21B):c.2458_2461+7del
NM_024753.5(TTC21B):c.2461+1G>A rs1382566648
NM_024753.5(TTC21B):c.2462-1G>A
NM_024753.5(TTC21B):c.2568_2568+2dup
NM_024753.5(TTC21B):c.270del (p.Ala91fs)
NM_024753.5(TTC21B):c.2868+1G>T rs1685487857
NM_024753.5(TTC21B):c.2869-2A>C
NM_024753.5(TTC21B):c.2869-2A>G rs1553508246
NM_024753.5(TTC21B):c.2951-1G>A
NM_024753.5(TTC21B):c.3130_3131dup (p.His1045fs) rs2468122348
NM_024753.5(TTC21B):c.3263+1G>A rs1574070787
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024753.5(TTC21B):c.354del (p.Leu118fs)
NM_024753.5(TTC21B):c.3684+1G>A rs368907623
NM_024753.5(TTC21B):c.3724del (p.Glu1242fs)
NM_024753.5(TTC21B):c.3871C>T (p.Gln1291Ter)
NM_024753.5(TTC21B):c.429+2T>C
NM_024753.5(TTC21B):c.431del rs2468244727
NM_024753.5(TTC21B):c.497del (p.Lys166fs) rs2105363277
NM_024753.5(TTC21B):c.607C>T (p.Gln203Ter)
NM_024753.5(TTC21B):c.711-2A>C rs1686972152
NM_024753.5(TTC21B):c.752T>G (p.Met251Arg) rs2468219408
NM_024753.5(TTC21B):c.778G>T (p.Glu260Ter)
NM_024753.5(TTC21B):c.895-1G>A rs773008707
NM_024753.5(TTC21B):c.928C>T (p.Gln310Ter)
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_024753.5(TTC21B):c.992G>A (p.Gly331Glu) rs1686838527
NM_024753.5(TTC21B):c.[2569G>A;3130_3131dup]
NM_024755.4(SLTM):c.2600C>A (p.Pro867His) rs1401798992
NM_024844.5(NUP85):c.1379G>A (p.Arg460Gln) rs1159700153
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro) rs1321552081
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_024876.4(COQ8B):c.271C>T (p.Arg91Cys) rs754975339
NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1042del (p.Ser348fs)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1065+1G>A rs2138021203
NM_025114.4(CEP290):c.1065+1G>C rs2138021203
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1274_1275del (p.Arg425fs)
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C rs2501054131
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.1521_1522+2dup
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1624-1G>C
NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.175dup (p.Met59fs)
NM_025114.4(CEP290):c.1775del (p.Arg592fs)
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter) rs2500867184
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1910-1G>A rs2500817276
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2041_2052+23del rs2137779120
NM_025114.4(CEP290):c.2052+1G>A rs2038915208
NM_025114.4(CEP290):c.2052+4A>T rs2500813056
NM_025114.4(CEP290):c.2139_2148del (p.Glu713fs)
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter) rs1438792443
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2217+1G>T rs2500759351
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter) rs2500744133
NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer) rs2500742395
NM_025114.4(CEP290):c.2367+2T>C rs2137707354
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.250+1G>A rs2501800454
NM_025114.4(CEP290):c.251-1G>C rs2138259162
NM_025114.4(CEP290):c.251-2A>G rs951979448
NM_025114.4(CEP290):c.254dup (p.Asn85fs) rs2138259100
NM_025114.4(CEP290):c.2586_2586+4del rs2500627262
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)
NM_025114.4(CEP290):c.2737_2741del (p.Lys912_Glu913insTer)
NM_025114.4(CEP290):c.2742del (p.Asn914fs)
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2817+1G>T rs2500612408
NM_025114.4(CEP290):c.2854del (p.Val952fs)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2992-2A>C rs2037480406
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3085del (p.Glu1029fs)
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3290dup (p.Leu1097fs)
NM_025114.4(CEP290):c.3377_3378dup (p.Ser1127Ter)
NM_025114.4(CEP290):c.341del (p.Arg114fs)
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3461+2_3461+3delinsGT
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3574-1G>A rs2500121878
NM_025114.4(CEP290):c.3574-2A>G rs2500121943
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter) rs2500121621
NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter) rs2500112760
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs) rs2500101115
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4030-2A>G rs2036722229
NM_025114.4(CEP290):c.4092del (p.Glu1364fs)
NM_025114.4(CEP290):c.4194+1G>C rs1306782857
NM_025114.4(CEP290):c.4194+2T>A rs2137247685
NM_025114.4(CEP290):c.4195-2del
NM_025114.4(CEP290):c.441+1G>A rs1184012636
NM_025114.4(CEP290):c.441+1G>C rs1184012636
NM_025114.4(CEP290):c.442-1G>A rs2040047006
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter) rs2137182509
NM_025114.4(CEP290):c.4695del (p.Ala1566fs)
NM_025114.4(CEP290):c.4704+1G>A rs1565835538
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs) rs2499974587
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4812+1G>A rs2137167420
NM_025114.4(CEP290):c.4812+1G>T rs2137167420
NM_025114.4(CEP290):c.4813-1G>C
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.4855dup (p.His1619fs) rs2499960522
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter) rs2499957266
NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer) rs879447211
NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs) rs2137150860
NM_025114.4(CEP290):c.5013-1G>A rs2499914261
NM_025114.4(CEP290):c.5013-2A>C
NM_025114.4(CEP290):c.5073del (p.Lys1691fs)
NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)
NM_025114.4(CEP290):c.5227-2A>G rs367676646
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5364+1G>A
NM_025114.4(CEP290):c.5441_5444del (p.Asn1813_Ser1814insTer)
NM_025114.4(CEP290):c.5482_5483del (p.Lys1828fs)
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5587-14_5588del rs2499844187
NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)
NM_025114.4(CEP290):c.5709+2T>G rs2499838601
NM_025114.4(CEP290):c.5710-2A>G
NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter) rs2499744201
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5856-1_5856delinsTT rs2136958216
NM_025114.4(CEP290):c.5856-2A>C rs2499731924
NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)
NM_025114.4(CEP290):c.5909_5910dup (p.Val1971fs)
NM_025114.4(CEP290):c.6011+2T>G rs2499726960
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs) rs2136911405
NM_025114.4(CEP290):c.6270+1G>A
NM_025114.4(CEP290):c.6270+1G>T rs1237799214
NM_025114.4(CEP290):c.6270+2T>C rs2499616926
NM_025114.4(CEP290):c.6271-1G>A rs2034579709
NM_025114.4(CEP290):c.6271-6_6274del rs2034579427
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6358-2A>C
NM_025114.4(CEP290):c.6397dup (p.Thr2133fs) rs2499571369
NM_025114.4(CEP290):c.6400_6403dup (p.Gly2135fs)
NM_025114.4(CEP290):c.6417del (p.Lys2139_Val2140insTer)
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6818+2T>C rs2499527666
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6960+1G>A
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.6961-3_6965del rs2499446500
NM_025114.4(CEP290):c.7130-1G>A rs2499370007
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7256del (p.Ser2419fs)
NM_025114.4(CEP290):c.725del (p.Asn242fs)
NM_025114.4(CEP290):c.7263del (p.Phe2421fs) rs1219184437
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.829_833del (p.Glu277fs)
NM_025114.4(CEP290):c.832_852+19del rs2138082472
NM_025114.4(CEP290):c.852del (p.Val285fs)
NM_025114.4(CEP290):c.853-2A>T rs2039902653
NM_025114.4(CEP290):c.942+1G>A rs2039897317
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_025114.4(CEP290):c.943-1G>A rs2138025029
NM_025114.4(CEP290):c.943-1G>C rs2138025029
NM_025114.4(CEP290):c.992del (p.Leu331fs)
NM_025132.4(WDR19):c.1015C>T (p.Gln339Ter) rs2475127412
NM_025132.4(WDR19):c.1134+1G>A
NM_025132.4(WDR19):c.1135-2A>G
NM_025132.4(WDR19):c.1148_1149del (p.Thr383fs)
NM_025132.4(WDR19):c.1357-2A>T rs1221444922
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) rs1729264976
NM_025132.4(WDR19):c.1479+2T>C rs756329385
NM_025132.4(WDR19):c.1484G>A (p.Gly495Asp)
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr) rs1730093487
NM_025132.4(WDR19):c.1582_1585dup (p.Leu529Ter)
NM_025132.4(WDR19):c.1778-1G>A rs1730515128
NM_025132.4(WDR19):c.1778-2A>C rs1730514795
NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)
NM_025132.4(WDR19):c.1983-2A>C rs2475202450
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs) rs2475203506
NM_025132.4(WDR19):c.2363+3_2363+6del rs776416706
NM_025132.4(WDR19):c.2364-2A>G rs2475244297
NM_025132.4(WDR19):c.2364-2del
NM_025132.4(WDR19):c.2388_2392dup (p.Tyr798fs)
NM_025132.4(WDR19):c.2421+1G>T
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2491del (p.Val831fs)
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2646-2A>G rs890152763
NM_025132.4(WDR19):c.2716del (p.Glu906fs)
NM_025132.4(WDR19):c.2729+1G>A
NM_025132.4(WDR19):c.2729+1G>T
NM_025132.4(WDR19):c.2730-1G>A
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) rs766616967
NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter) rs1460409474
NM_025132.4(WDR19):c.290+1G>T
NM_025132.4(WDR19):c.291-2A>G
NM_025132.4(WDR19):c.3068_3069del (p.Tyr1023fs)
NM_025132.4(WDR19):c.3084del (p.Lys1028fs)
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3304_3358+36del rs1560557536
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3436G>T (p.Glu1146Ter)
NM_025132.4(WDR19):c.3483+1G>A rs2109497413
NM_025132.4(WDR19):c.3483+1G>C rs2109497413
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3723del (p.Asp1242fs)
NM_025132.4(WDR19):c.3798dup (p.Cys1267fs)
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
NM_025132.4(WDR19):c.406+1G>T
NM_025132.4(WDR19):c.523-1G>C
NM_025132.4(WDR19):c.716+1G>C rs1232649308
NM_025132.4(WDR19):c.716+2T>C rs2475082619
NM_025132.4(WDR19):c.716+2del rs1727827349
NM_025132.4(WDR19):c.717-1G>A
NM_025132.4(WDR19):c.717-1G>C rs2109300967
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) rs1553905326
NM_025132.4(WDR19):c.891-1_891delinsAT rs2109322692
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_025132.4(WDR19):c.98+1G>A
NM_030667.3(PTPRO):c.1758del (p.Val587fs)
NM_030667.3(PTPRO):c.2027del (p.Lys676fs)
NM_030667.3(PTPRO):c.2712-1G>A
NM_030753.5(WNT3):c.271T>C (p.Cys91Arg) rs786205887
NM_030912.3(TRIM8):c.1163del (p.Phe388fs) rs2135984840
NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter) rs2135984949
NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter) rs2135984958
NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter) rs2064030858
NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter) rs2135985076
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter) rs2135985150
NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter) rs1387656757
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter) rs757465924
NM_032387.5(WNK4):c.3108del (p.Thr1037fs) rs2144087861
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1009G>A (p.Gly337Ser) rs1210495852
NM_033380.3(COL4A5):c.1028G>A (p.Gly343Glu) rs2524260150
NM_033380.3(COL4A5):c.1033-10G>A rs1311482428
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1075G>T (p.Gly359Ter) rs1569492122
NM_033380.3(COL4A5):c.1084G>T (p.Gly362Trp)
NM_033380.3(COL4A5):c.1090C>T (p.Pro364Ser) rs2147788213
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) rs104886096
NM_033380.3(COL4A5):c.1095dup (p.Leu366fs) rs2524267221
NM_033380.3(COL4A5):c.1102G>A (p.Gly368Arg)
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg) rs1603286154
NM_033380.3(COL4A5):c.1156G>A (p.Gly386Arg)
NM_033380.3(COL4A5):c.1189_1191del (p.Gly397del)
NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter) rs2066424636
NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu) rs104886107
NM_033380.3(COL4A5):c.1199G>T (p.Gly400Val)
NM_033380.3(COL4A5):c.1207G>A (p.Gly403Arg) rs2524282171
NM_033380.3(COL4A5):c.1208G>C (p.Gly403Ala) rs104886099
NM_033380.3(COL4A5):c.1216G>T (p.Gly406Cys)
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser) rs2066425550
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala) rs104886101
NM_033380.3(COL4A5):c.1226G>T (p.Gly409Val) rs104886101
NM_033380.3(COL4A5):c.1234G>C (p.Gly412Arg) rs2066425897
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1267G>A (p.Gly423Arg)
NM_033380.3(COL4A5):c.1286G>A (p.Gly429Glu) rs104886112
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu) rs2066428351
NM_033380.3(COL4A5):c.1312G>A (p.Gly438Ser) rs2147797143
NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg) rs2147797143
NM_033380.3(COL4A5):c.1332_1335dup (p.Pro446fs) rs2147797210
NM_033380.3(COL4A5):c.1334del (p.Pro445fs)
NM_033380.3(COL4A5):c.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.1369G>A (p.Gly457Ser) rs2147798001
NM_033380.3(COL4A5):c.1369G>T (p.Gly457Cys)
NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter) rs2066435557
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_033380.3(COL4A5):c.1395del (p.Gly466fs) rs2524285124
NM_033380.3(COL4A5):c.142G>A (p.Gly48Arg) rs281874669
NM_033380.3(COL4A5):c.1443C>A (p.Cys481Ter) rs1481434540
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp) rs104886118
NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs) rs2524299345
NM_033380.3(COL4A5):c.1490G>A (p.Gly497Asp) rs2147806122
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) rs281874670
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_033380.3(COL4A5):c.1515dup (p.Gly506fs)
NM_033380.3(COL4A5):c.151G>A (p.Gly51Arg) rs2147722151
NM_033380.3(COL4A5):c.1525G>A (p.Gly509Ser)
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.152_153delinsAGGT (p.Gly51fs)
NM_033380.3(COL4A5):c.1532del (p.Pro511fs) rs2066528020
NM_033380.3(COL4A5):c.1584_1587+6del rs2524305677
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1588-6T>G
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val) rs2524307924
NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp) rs104886127
NM_033380.3(COL4A5):c.1640del (p.Pro547fs) rs2524308059
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1672G>C (p.Gly558Arg) rs104886129
NM_033380.3(COL4A5):c.1673_1682del (p.Gly558fs) rs2524308291
NM_033380.3(COL4A5):c.1682G>T (p.Gly561Val)
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg) rs281874674
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg) rs1603290169
NM_033380.3(COL4A5):c.1726G>A (p.Gly576Ser) rs281874675
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) rs2147810410
NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu) rs104886130
NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter) rs2524308896
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val) rs1569494281
NM_033380.3(COL4A5):c.1826G>C (p.Gly609Ala) rs104886140
NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter) rs2065868148
NM_033380.3(COL4A5):c.1834G>A (p.Gly612Ser)
NM_033380.3(COL4A5):c.1852G>C (p.Gly618Arg)
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) rs104886143
NM_033380.3(COL4A5):c.1894G>A (p.Gly632Ser)
NM_033380.3(COL4A5):c.1921G>C (p.Gly641Arg)
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) rs1569494378
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys) rs2147813821
NM_033380.3(COL4A5):c.1949-3_1949delinsAGGATCCCCTGGA rs2524325219
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp) rs2066625376
NM_033380.3(COL4A5):c.1967del (p.Gly656fs)
NM_033380.3(COL4A5):c.1976del (p.Ile659fs)
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp) rs104886153
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys) rs281874684
NM_033380.3(COL4A5):c.2007dup (p.Asn670Ter) rs2524325761
NM_033380.3(COL4A5):c.2023G>A (p.Gly675Ser) rs104886157
NM_033380.3(COL4A5):c.2042-2A>C rs2066636714
NM_033380.3(COL4A5):c.2042-2A>G rs2066636714
NM_033380.3(COL4A5):c.2096G>A (p.Gly699Glu) rs2524328643
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg) rs775988576
NM_033380.3(COL4A5):c.2105G>T (p.Gly702Val) rs2524328777
NM_033380.3(COL4A5):c.2114del (p.Gly705fs) rs2524328853
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu) rs2066640120
NM_033380.3(COL4A5):c.215G>T (p.Gly72Val)
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_033380.3(COL4A5):c.2165G>T (p.Gly722Val) rs104886163
NM_033380.3(COL4A5):c.216del (p.Pro73fs) rs2524162850
NM_033380.3(COL4A5):c.2180_2183del (p.Pro727fs) rs2524332992
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) rs1603292422
NM_033380.3(COL4A5):c.219_226del (p.Arg74fs) rs2524162912
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser) rs867265684
NM_033380.3(COL4A5):c.2202_2204delinsA (p.Leu735fs) rs2524333149
NM_033380.3(COL4A5):c.2210G>A (p.Gly737Asp) rs2524333227
NM_033380.3(COL4A5):c.2218G>A (p.Gly740Arg)
NM_033380.3(COL4A5):c.2228G>T (p.Gly743Val)
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) rs867625069
NM_033380.3(COL4A5):c.2244G>A (p.Lys748=)
NM_033380.3(COL4A5):c.2269G>A (p.Gly757Arg)
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.228A>T (p.Gln76His) rs2147722497
NM_033380.3(COL4A5):c.231+1G>T rs104886349
NM_033380.3(COL4A5):c.2322del (p.Gly775fs) rs104886351
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro) rs200371339
NM_033380.3(COL4A5):c.2332G>C (p.Gly778Arg) rs104886174
NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs) rs2066736944
NM_033380.3(COL4A5):c.2351G>A (p.Gly784Asp)
NM_033380.3(COL4A5):c.2360G>A (p.Gly787Glu) rs104886176
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala) rs1603293624
NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter) rs1298839151
NM_033380.3(COL4A5):c.2395+3A>G rs2147832635
NM_033380.3(COL4A5):c.2396-1G>A rs886041509
NM_033380.3(COL4A5):c.2396-5_2396-1dup
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp) rs2147849728
NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg) rs2066899099
NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter) rs2066899099
NM_033380.3(COL4A5):c.2431G>C (p.Gly811Arg)
NM_033380.3(COL4A5):c.2440G>A (p.Gly814Arg) rs2147849915
NM_033380.3(COL4A5):c.2446C>T (p.Pro816Ser) rs2524375503
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg) rs104886184
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg) rs281874692
NM_033380.3(COL4A5):c.2474del (p.Gly825fs) rs2524375738
NM_033380.3(COL4A5):c.2482G>C (p.Gly828Arg)
NM_033380.3(COL4A5):c.2509+1G>T rs1556418287
NM_033380.3(COL4A5):c.2509_2509+1delinsTT
NM_033380.3(COL4A5):c.2510-1_2514del rs2147859764
NM_033380.3(COL4A5):c.2510-2A>G rs760109866
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.2576del (p.Pro859fs) rs2524395776
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser) rs1603297305
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) rs104886188
NM_033380.3(COL4A5):c.2604del (p.Gly869fs) rs1556419850
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2606G>C (p.Gly869Ala)
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_033380.3(COL4A5):c.2615G>T (p.Gly872Val)
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2635dup (p.Ser879fs)
NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs) rs2524396617
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_033380.3(COL4A5):c.2650G>A (p.Gly884Arg)
NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter) rs2067017511
NM_033380.3(COL4A5):c.2668G>A (p.Gly890Arg) rs2067018186
NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter) rs2067018186
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser) rs1569497776
NM_033380.3(COL4A5):c.2678-1G>T rs2524403418
NM_033380.3(COL4A5):c.267del (p.Gly90fs)
NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter) rs2524403492
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.2693_2697del (p.Met898fs) rs2524403583
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg) rs140753501
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.2723G>C (p.Gly908Ala) rs878853089
NM_033380.3(COL4A5):c.272_275delinsCTTTTAAT (p.Ile91fs) rs2524179769
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu) rs104886363
NM_033380.3(COL4A5):c.276+2dup rs2065934135
NM_033380.3(COL4A5):c.276+3A>C rs2524179835
NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter) rs2067060145
NM_033380.3(COL4A5):c.2767+4A>G rs2524404232
NM_033380.3(COL4A5):c.2780del (p.Leu927fs) rs2524407657
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) rs2147865597
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs) rs104886368
NM_033380.3(COL4A5):c.2822dup (p.Gly941_Ser942insTer)
NM_033380.3(COL4A5):c.2831G>A (p.Gly944Glu)
NM_033380.3(COL4A5):c.2848G>C (p.Gly950Arg) rs2524408108
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val) rs2066011284
NM_033380.3(COL4A5):c.2908G>A (p.Gly970Ser) rs2147865920
NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs) rs2524408618
NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter) rs2067108651
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu) rs1603298378
NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter) rs2067109223
NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter) rs2067109423
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg) rs2066011417
NM_033380.3(COL4A5):c.295_296del (p.Gly99fs) rs2524195963
NM_033380.3(COL4A5):c.2962G>T (p.Gly988Ter) rs2524414327
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg) rs2524414414
NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter) rs756070988
NM_033380.3(COL4A5):c.2T>G (p.Met1Arg)
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter) rs2524414626
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val) rs2524414663
NM_033380.3(COL4A5):c.3016+1G>A rs104886377
NM_033380.3(COL4A5):c.3016+2T>C rs2147869403
NM_033380.3(COL4A5):c.3017-2A>G rs2524419875
NM_033380.3(COL4A5):c.3034G>T (p.Gly1012Cys)
NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter) rs2067140465
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys) rs1603298869
NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp) rs1569498896
NM_033380.3(COL4A5):c.3053G>T (p.Gly1018Val) rs1569498896
NM_033380.3(COL4A5):c.3060_3063dup (p.Pro1022fs)
NM_033380.3(COL4A5):c.3061G>A (p.Gly1021Arg)
NM_033380.3(COL4A5):c.3070G>A (p.Gly1024Arg)
NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del) rs2524420389
NM_033380.3(COL4A5):c.3080del (p.Gly1027fs)
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3098G>T (p.Gly1033Val) rs2524420706
NM_033380.3(COL4A5):c.3106+1G>A rs2147872358
NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser) rs104886214
NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter) rs2067151807
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu) rs1603298993
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val) rs1603298993
NM_033380.3(COL4A5):c.3179del (p.Gly1060fs) rs2524423431
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.321+1G>A rs2147746303
NM_033380.3(COL4A5):c.3244A>T (p.Lys1082Ter) rs2067154422
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter) rs2067818573
NM_033380.3(COL4A5):c.3275G>A (p.Gly1092Glu)
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3304del (p.Asp1102fs) rs1569504068
NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp) rs104886224
NM_033380.3(COL4A5):c.3329G>A (p.Gly1110Glu) rs2524531676
NM_033380.3(COL4A5):c.3329G>T (p.Gly1110Val) rs2524531676
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.3347G>A (p.Gly1116Glu) rs281874713
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3356G>A (p.Gly1119Asp) rs1461391769
NM_033380.3(COL4A5):c.3362del (p.Pro1121fs)
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu) rs2524532092
NM_033380.3(COL4A5):c.3371del (p.Pro1124fs) rs2524532130
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg) rs2067822565
NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del) rs2524562354
NM_033380.3(COL4A5):c.3399del (p.Gly1134fs) rs2524562444
NM_033380.3(COL4A5):c.3400G>C (p.Gly1134Arg)
NM_033380.3(COL4A5):c.3400G>T (p.Gly1134Cys)
NM_033380.3(COL4A5):c.3403_3410delinsT (p.Ile1135fs)
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu) rs2068061224
NM_033380.3(COL4A5):c.3445G>A (p.Gly1149Ser)
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) rs2147953060
NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter) rs2524566727
NM_033380.3(COL4A5):c.3473G>A (p.Gly1158Glu) rs2068082287
NM_033380.3(COL4A5):c.3488del (p.Pro1163fs) rs1057516187
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) rs104886236
NM_033380.3(COL4A5):c.3500G>C (p.Gly1167Ala)
NM_033380.3(COL4A5):c.3501del (p.Lys1168fs)
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg) rs104886237
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3535G>T (p.Gly1179Ter) rs104886240
NM_033380.3(COL4A5):c.3553+1G>A
NM_033380.3(COL4A5):c.3553+1G>T
NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg) rs1353480777
NM_033380.3(COL4A5):c.3554-2A>G rs2147956337
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp) rs2068097992
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val) rs2068097992
NM_033380.3(COL4A5):c.3562G>A (p.Gly1188Ser)
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs) rs2147956419
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs) rs1569505604
NM_033380.3(COL4A5):c.3586G>A (p.Gly1196Arg) rs104886244
NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp) rs2524196982
NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter) rs2068126785
NM_033380.3(COL4A5):c.3622G>C (p.Gly1208Arg) rs2524574720
NM_033380.3(COL4A5):c.3623G>A (p.Gly1208Glu) rs2068126851
NM_033380.3(COL4A5):c.3634dup (p.Ile1212fs) rs2147959089
NM_033380.3(COL4A5):c.3640G>A (p.Gly1214Arg) rs2147959120
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter) rs1569488426
NM_033380.3(COL4A5):c.3686G>C (p.Gly1229Ala) rs104886253
NM_033380.3(COL4A5):c.3703G>A (p.Gly1235Ser)
NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys) rs2147959392
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp) rs281874721
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val) rs2524576103
NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs) rs2524576195
NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter) rs2524576232
NM_033380.3(COL4A5):c.3784del (p.Arg1262fs) rs2524576251
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val) rs2147963152
NM_033380.3(COL4A5):c.3800G>A (p.Gly1267Asp)
NM_033380.3(COL4A5):c.3809G>A (p.Gly1270Asp) rs2147974770
NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser) rs2147974808
NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs) rs2524602272
NM_033380.3(COL4A5):c.382A>T (p.Lys128Ter) rs2524197153
NM_033380.3(COL4A5):c.3844G>A (p.Gly1282Arg) rs2068329229
NM_033380.3(COL4A5):c.384G>A (p.Lys128=) rs1569488434
NM_033380.3(COL4A5):c.385-2A>C
NM_033380.3(COL4A5):c.385-2A>T rs2066062676
NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter) rs2147974914
NM_033380.3(COL4A5):c.3865G>T (p.Glu1289Ter)
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser) rs2147975020
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys) rs1327176357
NM_033380.3(COL4A5):c.3940del (p.Gln1314fs) rs2147975180
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.3943-1G>C
NM_033380.3(COL4A5):c.3947del (p.Asn1316fs)
NM_033380.3(COL4A5):c.3955dup (p.Arg1319fs) rs2524611865
NM_033380.3(COL4A5):c.3974del (p.Met1325fs)
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs) rs1131692246
NM_033380.3(COL4A5):c.3979G>T (p.Gly1327Ter)
NM_033380.3(COL4A5):c.3997G>C (p.Gly1333Arg)
NM_033380.3(COL4A5):c.3998G>C (p.Gly1333Ala)
NM_033380.3(COL4A5):c.4016-1G>A rs797045035
NM_033380.3(COL4A5):c.401del (p.Pro134fs)
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter) rs2068413590
NM_033380.3(COL4A5):c.4034_4035delinsTG (p.Gly1345Val)
NM_033380.3(COL4A5):c.4052G>T (p.Gly1351Val)
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter) rs2524613304
NM_033380.3(COL4A5):c.4060G>A (p.Gly1354Arg)
NM_033380.3(COL4A5):c.4061_4062delinsAT (p.Gly1354Asp) rs2524613345
NM_033380.3(COL4A5):c.4070G>A (p.Gly1357Glu) rs104886402
NM_033380.3(COL4A5):c.4087+1G>C rs587776401
NM_033380.3(COL4A5):c.4097G>A (p.Gly1366Glu)
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
NM_033380.3(COL4A5):c.40_41del (p.Leu14fs) rs2523832979
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys) rs767619131
NM_033380.3(COL4A5):c.4135G>A (p.Gly1379Arg) rs2524616549
NM_033380.3(COL4A5):c.4154G>T (p.Gly1385Val) rs104886269
NM_033380.3(COL4A5):c.4171G>A (p.Gly1391Arg)
NM_033380.3(COL4A5):c.4172G>T (p.Gly1391Val) rs2068437273
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg) rs1339067074
NM_033380.3(COL4A5):c.4184dup (p.Pro1396fs) rs2524616827
NM_033380.3(COL4A5):c.4190G>T (p.Gly1397Val)
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter) rs2524617057
NM_033380.3(COL4A5):c.4217-1G>C
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser) rs1556403112
NM_033380.3(COL4A5):c.4222del (p.Thr1408fs) rs2068537554
NM_033380.3(COL4A5):c.422G>A (p.Gly141Asp) rs2524207795
NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter) rs2147753940
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs) rs2068539903
NM_033380.3(COL4A5):c.4306G>A (p.Gly1436Arg)
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter) rs143778018
NM_033380.3(COL4A5):c.4313del (p.Pro1438fs) rs2524628824
NM_033380.3(COL4A5):c.4315+1G>C rs587776403
NM_033380.3(COL4A5):c.4315+2T>A rs2147989449
NM_033380.3(COL4A5):c.4315G>A (p.Gly1439Ser)
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) rs2147991184
NM_033380.3(COL4A5):c.4334G>A (p.Gly1445Asp) rs757894483
NM_033380.3(COL4A5):c.4340dup (p.Gly1448fs)
NM_033380.3(COL4A5):c.4347_4373del (p.Asp1450_Pro1458del) rs606231372
NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu) rs2524632147
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser) rs104886279
NM_033380.3(COL4A5):c.4369G>T (p.Gly1457Cys)
NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs) rs2524632295
NM_033380.3(COL4A5):c.438+1_438+3dup rs2066064057
NM_033380.3(COL4A5):c.438+2T>C rs281874738
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs) rs1569508360
NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg) rs2066069145
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter) rs2066069145
NM_033380.3(COL4A5):c.4410del (p.Thr1471fs) rs2524632451
NM_033380.3(COL4A5):c.4423C>T (p.Gln1475Ter)
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr) rs1569508382
NM_033380.3(COL4A5):c.4446C>A (p.Cys1482Ter) rs2147991488
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.449_450delinsAT (p.Gly150Asp) rs2524209858
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter) rs2524632984
NM_033380.3(COL4A5):c.4507del (p.Arg1503fs) rs1603323412
NM_033380.3(COL4A5):c.4528+2T>C rs2147991737
NM_033380.3(COL4A5):c.4528G>A (p.Gly1510Arg)
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4543T>C (p.Cys1515Arg)
NM_033380.3(COL4A5):c.4557del (p.Phe1519fs)
NM_033380.3(COL4A5):c.4565del (p.Met1522fs)
NM_033380.3(COL4A5):c.4579T>A (p.Cys1527Ser) rs755766520
NM_033380.3(COL4A5):c.4581C>G (p.Cys1527Trp) rs104886292
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe) rs2524646096
NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs) rs2524646173
NM_033380.3(COL4A5):c.4618del (p.Asp1540fs) rs1603326561
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.465+2_465+6del
NM_033380.3(COL4A5):c.466-12G>A rs104886414
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter) rs2524216449
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4706G>C (p.Arg1569Pro) rs281874743
NM_033380.3(COL4A5):c.4707-1G>A rs1556462917
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs) rs2524652143
NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter) rs2524652195
NM_033380.3(COL4A5):c.4769C>G (p.Pro1590Arg)
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter) rs2524652341
NM_033380.3(COL4A5):c.4788G>A (p.Trp1596Ter) rs2148001666
NM_033380.3(COL4A5):c.4803_4807del (p.Gly1602fs)
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe) rs1569509257
NM_033380.3(COL4A5):c.4847C>A (p.Ser1616Ter) rs750941179
NM_033380.3(COL4A5):c.4884_4906del (p.Glu1628fs)
NM_033380.3(COL4A5):c.4885G>T (p.Glu1629Ter)
NM_033380.3(COL4A5):c.4892_4895del (p.Arg1631fs) rs2524653885
NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs) rs1556463583
NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg) rs281874750
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.494C>G (p.Ser165Ter) rs2066099798
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.496del (p.Leu166fs)
NM_033380.3(COL4A5):c.4994+1G>A rs2524654509
NM_033380.3(COL4A5):c.4995-1G>T rs2148003624
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr) rs2148003771
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys) rs1556404027
NM_033380.3(COL4A5):c.515del (p.Asn172fs) rs2524216795
NM_033380.3(COL4A5):c.530dup (p.Pro178fs)
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) rs281874755
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu) rs2147759475
NM_033380.3(COL4A5):c.547-1G>A rs104886431
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp) rs104886059
NM_033380.3(COL4A5):c.548G>T (p.Gly183Val) rs104886059
NM_033380.3(COL4A5):c.562_588del (p.Thr188_Pro196del)
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.583G>T (p.Gly195Cys)
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter) rs2523833248
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs) rs281874759
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) rs104886066
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_033380.3(COL4A5):c.645+1G>T rs1603282474
NM_033380.3(COL4A5):c.645+3_645+36del rs2524234179
NM_033380.3(COL4A5):c.646-4_646-2delinsTCT
NM_033380.3(COL4A5):c.646-6C>G rs200151467
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg) rs2147770608
NM_033380.3(COL4A5):c.671G>T (p.Gly224Val) rs2147770618
NM_033380.3(COL4A5):c.67_68del (p.Pro23fs) rs2523833392
NM_033380.3(COL4A5):c.681_682del (p.Glu228fs) rs2524234935
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val) rs281874763
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter) rs2524235865
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_033380.3(COL4A5):c.698G>T (p.Gly233Val) rs1569490592
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter) rs2524235917
NM_033380.3(COL4A5):c.706G>A (p.Gly236Ser) rs2524235953
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.710del (p.Pro237fs) rs2524235970
NM_033380.3(COL4A5):c.711_716del (p.Gly239_Pro240del) rs2524236030
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter) rs2066188778
NM_033380.3(COL4A5):c.770_776del (p.Lys257fs) rs2524236373
NM_033380.3(COL4A5):c.780+1G>T
NM_033380.3(COL4A5):c.790G>A (p.Gly264Ser)
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.809G>T (p.Gly270Val)
NM_033380.3(COL4A5):c.81+2T>G
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg) rs2524244170
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val) rs2524244259
NM_033380.3(COL4A5):c.834+1G>T rs104886446
NM_033380.3(COL4A5):c.834del (p.Gly279fs) rs2066227699
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser) rs2066231013
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu) rs104886078
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.891+1G>T rs104886451
NM_033380.3(COL4A5):c.891_891+1del rs2524245595
NM_033380.3(COL4A5):c.892G>T (p.Gly298Cys) rs104886080
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg) rs2147777425
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp) rs2147657533
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu) rs1556407064
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val) rs1556407064
NM_033380.3(COL4A5):c.935del (p.Pro312fs) rs1556407078
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys) rs104886084
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val) rs2147781020
NM_033380.3(COL4A5):c.938del rs2524254479
NM_033380.3(COL4A5):c.948_949del (p.Asp317fs) rs2524254589
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) rs104886086
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val) rs104886086
NM_033380.3(COL4A5):c.958_960dup (p.Tyr320_Pro321insTyr) rs2524254673
NM_033380.3(COL4A5):c.965G>T (p.Gly322Val) rs1569491399
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp) rs2066274585
NM_033380.3(COL4A5):c.991-1G>A rs1569491718
NM_033380.3(COL4A5):c.992G>T (p.Gly331Val) rs104886092
NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala) rs1554771066
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs) rs759150616
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052844.4(DYNC2I2):c.1340_1341delinsTA (p.Arg447Leu) rs1860309810
NM_052844.4(DYNC2I2):c.1418_1419del (p.Thr473fs) rs755570414
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441
NM_052844.4(DYNC2I2):c.1567_1582del (p.Glu523fs) rs1554770453
NM_052844.4(DYNC2I2):c.186+2T>C
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs) rs2132146546
NM_052844.4(DYNC2I2):c.82_83insCA (p.Ser28fs)
NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser) rs1554771175
NM_052844.4(DYNC2I2):c.981+1G>A
NM_052989.3(IFT122):c.1044C>A (p.Tyr348Ter)
NM_052989.3(IFT122):c.1148-2A>G
NM_052989.3(IFT122):c.1247C>A (p.Ser416Ter)
NM_052989.3(IFT122):c.1279A>T (p.Lys427Ter)
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) rs2108328020
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val) rs786205566
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg) rs2074912574
NM_052989.3(IFT122):c.1783_1784del (p.Val595fs)
NM_052989.3(IFT122):c.1800del (p.Lys601fs)
NM_052989.3(IFT122):c.193+2T>G
NM_052989.3(IFT122):c.22A>T (p.Arg8Ter)
NM_052989.3(IFT122):c.234_235insTA (p.Ile79Ter)
NM_052989.3(IFT122):c.240G>A (p.Trp80Ter)
NM_052989.3(IFT122):c.25_26del (p.Arg8_Asp9insTer)
NM_052989.3(IFT122):c.2650+1G>A
NM_052989.3(IFT122):c.2708_2711del (p.Asn903fs)
NM_052989.3(IFT122):c.272+1G>C
NM_052989.3(IFT122):c.2791+1G>A
NM_052989.3(IFT122):c.293dup (p.Cys98fs)
NM_052989.3(IFT122):c.3098del (p.Lys1033fs)
NM_052989.3(IFT122):c.3265+1G>A
NM_052989.3(IFT122):c.3391+1G>A
NM_052989.3(IFT122):c.3429dup (p.Ile1144fs)
NM_052989.3(IFT122):c.349+1G>A rs1559869525
NM_052989.3(IFT122):c.3616_3636+5del
NM_052989.3(IFT122):c.416+2T>G rs2108101855
NM_052989.3(IFT122):c.515_516insA (p.Ser175fs)
NM_052989.3(IFT122):c.592_595del (p.Glu198fs)
NM_052989.3(IFT122):c.741del (p.Glu248fs)
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp) rs2077955754
NM_052989.3(IFT122):c.916_917del (p.Leu306fs) rs2531744619
NM_057176.3(BSND):c.452del (p.Pro151fs) rs765135576
NM_080425.4(GNAS):c.344G>A (p.Trp115Ter)
NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer) rs2516370196
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843
NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp) rs1384539153
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.10058T>A (p.Leu3353His) rs777377414
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs) rs2533728473
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter) rs2150962096
NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs) rs2533727048
NM_138694.4(PKHD1):c.10157-1G>T rs2150418842
NM_138694.4(PKHD1):c.10157-2A>G rs2150418852
NM_138694.4(PKHD1):c.10168G>T (p.Glu3390Ter) rs761267998
NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg) rs2533458266
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) rs1772559884
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs) rs760260903
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer) rs1554183763
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) rs1057517249
NM_138694.4(PKHD1):c.10226A>T (p.Asp3409Val) rs754808508
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter) rs1562044017
NM_138694.4(PKHD1):c.10273C>T (p.Gln3425Ter)
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr) rs778711731
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.10384_10385del (p.Ile3462fs) rs2533451274
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter) rs1772516071
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs) rs2533450792
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter) rs577055211
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) rs1554183588
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs) rs1057516835
NM_138694.4(PKHD1):c.10426C>T (p.Gln3476Ter) rs1581894576
NM_138694.4(PKHD1):c.10452del (p.Leu3485fs)
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs) rs1057517326
NM_138694.4(PKHD1):c.10481_10503del (p.Leu3494fs) rs2533447679
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs) rs2533442206
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs) rs1554183480
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs) rs1554183446
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10639del (p.Leu3547fs)
NM_138694.4(PKHD1):c.10646del (p.Gly3549fs)
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs) rs2533443743
NM_138694.4(PKHD1):c.10660G>T (p.Glu3554Ter)
NM_138694.4(PKHD1):c.10688T>A (p.Leu3563Ter) rs1772455536
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) rs1057516345
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs) rs2533442093
NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs) rs2533442093
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter) rs2150413999
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer) rs1554183320
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10780C>T (p.Gln3594Ter)
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs) rs1057516652
NM_138694.4(PKHD1):c.10845_10846dup (p.Ala3616fs) rs2533438513
NM_138694.4(PKHD1):c.10847del (p.Ala3616fs)
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.10937C>G (p.Ser3646Ter) rs2533435674
NM_138694.4(PKHD1):c.10940dup (p.His3647fs) rs2533435581
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs) rs1772389754
NM_138694.4(PKHD1):c.10957delinsTG (p.Met3653fs)
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) rs1554219429
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) rs1057517047
NM_138694.4(PKHD1):c.10978A>T (p.Lys3660Ter) rs2533434126
NM_138694.4(PKHD1):c.11059C>T (p.Gln3687Ter) rs2533431743
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter) rs1772364866
NM_138694.4(PKHD1):c.11092C>T (p.Gln3698Ter) rs2533430847
NM_138694.4(PKHD1):c.110G>A (p.Trp37Ter)
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) rs1554183012
NM_138694.4(PKHD1):c.11151_11154del (p.Ser3718fs) rs1772351745
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138694.4(PKHD1):c.11174+2T>C rs2150410774
NM_138694.4(PKHD1):c.11174_11175-4798del
NM_138694.4(PKHD1):c.11175-2A>G rs2533306617
NM_138694.4(PKHD1):c.1118+1G>T rs1808826795
NM_138694.4(PKHD1):c.1119-2A>G rs2533403454
NM_138694.4(PKHD1):c.11212_11213del (p.Ile3738fs) rs1554176517
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs) rs1554176343
NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter) rs1020902474
NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu) rs2533303930
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11311-2A>G rs1554174903
NM_138694.4(PKHD1):c.11312_11324del (p.Asn3771fs)
NM_138694.4(PKHD1):c.11313_11317del rs2533292203
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs) rs1554174796
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter) rs2533290921
NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter) rs757605574
NM_138694.4(PKHD1):c.11395A>T (p.Lys3799Ter) rs2533289946
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11425G>A (p.Gly3809Ser) rs1363452328
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) rs1554169567
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer) rs1208095603
NM_138694.4(PKHD1):c.11507-1G>A rs2150304734
NM_138694.4(PKHD1):c.11507-2A>T rs2533096592
NM_138694.4(PKHD1):c.1156AAT[1] (p.Asn387del) rs1554218506
NM_138694.4(PKHD1):c.11600del (p.Ser3867fs) rs2533094120
NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile) rs2533402360
NM_138694.4(PKHD1):c.11666-2A>G rs1767343654
NM_138694.4(PKHD1):c.11666-593_11752del rs2150277532
NM_138694.4(PKHD1):c.11770_11771dup (p.Val3925fs) rs2533015882
NM_138694.4(PKHD1):c.11770del (p.Thr3924fs) rs2533015969
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+1G>T rs1488844530
NM_138694.4(PKHD1):c.1189C>T (p.Gln397Ter) rs2533401568
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser) rs1808425655
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.12029A>C (p.Gln4010Pro) rs1766312361
NM_138694.4(PKHD1):c.12036del (p.Gly4013fs)
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) rs1057517178
NM_138694.4(PKHD1):c.1216del (p.Glu406fs) rs2533400757
NM_138694.4(PKHD1):c.1223del (p.Pro408fs)
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1260del (p.Thr421fs) rs2533374401
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter) rs1230558010
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter) rs2533373615
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) rs2128212671
NM_138694.4(PKHD1):c.1300G>T (p.Glu434Ter)
NM_138694.4(PKHD1):c.131-2A>T rs2533764689
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) rs1582013246
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1409del (p.Gly470fs) rs1057516975
NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser) rs2533368902
NM_138694.4(PKHD1):c.1431G>A (p.Trp477Ter)
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.1474C>T (p.Gln492Ter) rs2533366926
NM_138694.4(PKHD1):c.1492del (p.Gln498fs) rs2533366370
NM_138694.4(PKHD1):c.1497del (p.Arg499fs) rs2533366169
NM_138694.4(PKHD1):c.1513-1G>A rs2533343847
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter) rs1582002018
NM_138694.4(PKHD1):c.156dup (p.Asn53fs) rs773991918
NM_138694.4(PKHD1):c.1597_1598insG (p.His533fs) rs2533340936
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.1617del (p.Ile539fs) rs1562248692
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1625T>A (p.Leu542Ter) rs2533337394
NM_138694.4(PKHD1):c.1626del (p.Leu542fs) rs1259363063
NM_138694.4(PKHD1):c.1644del (p.Lys548fs) rs2533336771
NM_138694.4(PKHD1):c.1658G>A (p.Trp553Ter)
NM_138694.4(PKHD1):c.1660_1661insA (p.Ser554fs) rs2533335995
NM_138694.4(PKHD1):c.1693+1G>T rs2128209217
NM_138694.4(PKHD1):c.1693+2T>C rs1581999471
NM_138694.4(PKHD1):c.1694-1G>C rs398124477
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter) rs1581992845
NM_138694.4(PKHD1):c.1700_1704dup (p.Ser569fs) rs2533318319
NM_138694.4(PKHD1):c.1728del (p.Ser577fs) rs2533317419
NM_138694.4(PKHD1):c.179_182delinsGACGT (p.Ile60fs) rs2533761786
NM_138694.4(PKHD1):c.1804C>T (p.Gln602Ter)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1836+1G>C
NM_138694.4(PKHD1):c.1836+1G>T
NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr) rs769867380
NM_138694.4(PKHD1):c.1846_1848delinsT (p.Ala616fs) rs2533290117
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1867A>T (p.Lys623Ter) rs375491089
NM_138694.4(PKHD1):c.1892dup (p.Thr632fs)
NM_138694.4(PKHD1):c.1910del (p.Asn637fs) rs2533287529
NM_138694.4(PKHD1):c.1954_1957dup (p.Pro653fs) rs2533285510
NM_138694.4(PKHD1):c.1964+2T>C rs1453646167
NM_138694.4(PKHD1):c.1965-1G>T rs2533270278
NM_138694.4(PKHD1):c.1965-2A>C rs2128203974
NM_138694.4(PKHD1):c.1965-2A>T rs2128203974
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651
NM_138694.4(PKHD1):c.2017del (p.Asp673fs) rs1581974348
NM_138694.4(PKHD1):c.2023C>T (p.Gln675Ter) rs1479884552
NM_138694.4(PKHD1):c.2057A>C (p.His686Pro) rs2533266005
NM_138694.4(PKHD1):c.2110_2111dup (p.Ile705fs)
NM_138694.4(PKHD1):c.2140+1G>C rs1554213853
NM_138694.4(PKHD1):c.2140+1G>T rs1554213853
NM_138694.4(PKHD1):c.2141-1G>A rs2128197058
NM_138694.4(PKHD1):c.2141-2A>C rs1554212403
NM_138694.4(PKHD1):c.2141-9G>A
NM_138694.4(PKHD1):c.2161_2163delinsCT (p.Thr721fs)
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser) rs1806602099
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) rs1806601043
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs) rs2128196889
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2188delinsTA (p.Glu730Ter) rs2128196788
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
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.2279+1G>T
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2302G>T (p.Glu768Ter) rs2533176062
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs) rs1554211308
NM_138694.4(PKHD1):c.2383C>T (p.Gln795Ter)
NM_138694.4(PKHD1):c.2408-2A>G rs1554210085
NM_138694.4(PKHD1):c.2443del (p.Gln815fs)
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2474_2475insTGGC (p.Ser826fs) rs2533123818
NM_138694.4(PKHD1):c.2503_2504del (p.Thr835fs) rs2533122531
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro) rs1203260419
NM_138694.4(PKHD1):c.2532C>G (p.Tyr844Ter) rs150202544
NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg) rs1466595320
NM_138694.4(PKHD1):c.2552_2553delinsAG (p.Ser851Ter)
NM_138694.4(PKHD1):c.257del (p.Leu86fs) rs2533758684
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) rs1057516709
NM_138694.4(PKHD1):c.2592+1G>A
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2592+1G>T rs758812102
NM_138694.4(PKHD1):c.2592+2T>C
NM_138694.4(PKHD1):c.2593-1G>A
NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro) rs886042298
NM_138694.4(PKHD1):c.2648_2649del (p.Val882_Tyr883insTer) rs774660474
NM_138694.4(PKHD1):c.2664del (p.Gly890fs) rs2128186439
NM_138694.4(PKHD1):c.2681del (p.Gly894fs) rs2533094491
NM_138694.4(PKHD1):c.2715+1G>C rs1554209188
NM_138694.4(PKHD1):c.2715+1G>T rs1554209188
NM_138694.4(PKHD1):c.2715+2_2715+14del rs1057516562
NM_138694.4(PKHD1):c.2747A>C (p.His916Pro) rs1805300035
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2779dup (p.Gln927fs)
NM_138694.4(PKHD1):c.2799_2809del (p.His934fs) rs2533064576
NM_138694.4(PKHD1):c.281+1G>A rs1582154630
NM_138694.4(PKHD1):c.281+1G>T rs1582154630
NM_138694.4(PKHD1):c.281+2T>G rs2533757718
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.282-1G>T rs1157455673
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2821+1G>A
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2850del (p.Thr951fs) rs2533051142
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.2855G>A (p.Gly952Glu) rs2533050685
NM_138694.4(PKHD1):c.2859del (p.Gly954fs)
NM_138694.4(PKHD1):c.2887C>T (p.Gln963Ter) rs2533049562
NM_138694.4(PKHD1):c.2916_2917insTGCCGTCTTCTGC (p.Val973fs) rs2533048356
NM_138694.4(PKHD1):c.2941_2943delinsCT (p.Val981fs) rs2533047183
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.2998A>T (p.Arg1000Ter) rs2533044956
NM_138694.4(PKHD1):c.304G>T (p.Glu102Ter) rs2533718182
NM_138694.4(PKHD1):c.3052_3098-2744del
NM_138694.4(PKHD1):c.3062del (p.Leu1021fs) rs2533042720
NM_138694.4(PKHD1):c.3079del (p.Ser1027fs) rs2533041666
NM_138694.4(PKHD1):c.3082A>T (p.Arg1028Ter) rs2533041363
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu) rs777976050
NM_138694.4(PKHD1):c.3097+1G>A
NM_138694.4(PKHD1):c.3097+2T>C rs1554207834
NM_138694.4(PKHD1):c.3097G>T (p.Gly1033Ter)
NM_138694.4(PKHD1):c.3098-1G>A rs2128169165
NM_138694.4(PKHD1):c.3098-2A>T rs1013567047
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs) rs1803834984
NM_138694.4(PKHD1):c.3140_3141del (p.Val1047fs) rs2532925710
NM_138694.4(PKHD1):c.3156_3157insATTGGATATTGGATAAGATATT (p.Gly1053fs)
NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg) rs1322231013
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) rs1554204054
NM_138694.4(PKHD1):c.3165C>G (p.Tyr1055Ter) rs976420096
NM_138694.4(PKHD1):c.3228+1G>A rs868673401
NM_138694.4(PKHD1):c.3228+1G>C rs868673401
NM_138694.4(PKHD1):c.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3229-1G>A rs2532875684
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro) rs1803322601
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs) rs2532871665
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer) rs2532871074
NM_138694.4(PKHD1):c.3365-3C>T rs2128153381
NM_138694.4(PKHD1):c.3369_3370del (p.Glu1124fs) rs2532793431
NM_138694.4(PKHD1):c.3404_3413del (p.Asn1135fs) rs2532791940
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3421del (p.Val1141fs) rs2532791702
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs) rs1554200778
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs) rs2532789681
NM_138694.4(PKHD1):c.3497del (p.Pro1166fs) rs2532788783
NM_138694.4(PKHD1):c.349del (p.Ser117fs) rs2533716704
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu) rs1581827172
NM_138694.4(PKHD1):c.3548_3557del (p.Ile1183fs) rs2532786302
NM_138694.4(PKHD1):c.3560+1G>T rs2532786041
NM_138694.4(PKHD1):c.3561-1G>A rs1802457333
NM_138694.4(PKHD1):c.3561-2A>G rs1057516982
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter) rs2532778455
NM_138694.4(PKHD1):c.3582C>A (p.Tyr1194Ter) rs2532778313
NM_138694.4(PKHD1):c.3622dup (p.Leu1208fs) rs2128151491
NM_138694.4(PKHD1):c.3628+1G>A
NM_138694.4(PKHD1):c.3634dup (p.Thr1212fs) rs2532744806
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3726_3727del (p.Leu1242fs) rs2532740782
NM_138694.4(PKHD1):c.3743G>A (p.Trp1248Ter) rs2128146713
NM_138694.4(PKHD1):c.3752_3753insTT (p.Leu1252fs) rs2532739750
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) rs2128146668
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs) rs1802132538
NM_138694.4(PKHD1):c.3765_3766del (p.Gln1256fs)
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs) rs2532738284
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs) rs1554199349
NM_138694.4(PKHD1):c.3830_3843dup (p.Pro1282fs) rs2532734922
NM_138694.4(PKHD1):c.3864dup (p.Lys1289fs) rs777925360
NM_138694.4(PKHD1):c.3886_3887del (p.Glu1296fs) rs2532732787
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3932_3933del (p.Thr1311fs) rs2532731276
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer) rs1554199226
NM_138694.4(PKHD1):c.3946_3947del (p.Ser1316fs) rs2532730647
NM_138694.4(PKHD1):c.4002_4003del (p.Asn1335fs) rs2532728490
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs) rs2532728375
NM_138694.4(PKHD1):c.4017_4018del (p.Glu1339fs) rs2532727691
NM_138694.4(PKHD1):c.4045del (p.Leu1349fs)
NM_138694.4(PKHD1):c.4065del (p.Leu1356fs)
NM_138694.4(PKHD1):c.4075_4078dup (p.Glu1360fs) rs2532725313
NM_138694.4(PKHD1):c.407dup (p.Pro137fs) rs2533665776
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs) rs1057516594
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter) rs1226122841
NM_138694.4(PKHD1):c.4155del (p.Phe1385fs) rs2532722658
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr) rs2128144732
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del) rs1802029655
NM_138694.4(PKHD1):c.421del (p.Gln141fs) rs2533665429
NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro) rs1464962854
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4274T>G (p.Leu1425Arg) rs2532718291
NM_138694.4(PKHD1):c.4292G>C (p.Cys1431Ser)
NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe) rs753307105
NM_138694.4(PKHD1):c.4293T>A (p.Cys1431Ter) rs2532717700
NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp) rs2532717700
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter) rs1811318008
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs) rs1802018167
NM_138694.4(PKHD1):c.4347_4348del (p.Asp1450fs) rs2532715912
NM_138694.4(PKHD1):c.4361del (p.Gly1454fs) rs2532715317
NM_138694.4(PKHD1):c.4411G>T (p.Glu1471Ter)
NM_138694.4(PKHD1):c.4414_4418del (p.Cys1472fs) rs2532713199
NM_138694.4(PKHD1):c.4418_4419del (p.Gln1473fs) rs2532713098
NM_138694.4(PKHD1):c.4428C>A (p.Cys1476Ter) rs1369026474
NM_138694.4(PKHD1):c.4450del (p.Ala1484fs)
NM_138694.4(PKHD1):c.448+2T>C rs1057517270
NM_138694.4(PKHD1):c.4488_4489insA (p.Gly1497fs)
NM_138694.4(PKHD1):c.449-1G>A rs2533630386
NM_138694.4(PKHD1):c.449-1G>T rs2533630386
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4512del (p.Arg1505fs)
NM_138694.4(PKHD1):c.4537_4554del (p.Ala1513_Val1518del)
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs) rs2532707173
NM_138694.4(PKHD1):c.453del (p.Lys151fs) rs2533630255
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter) rs1433540169
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs) rs1057516382
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.4583dup (p.Thr1529fs)
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr) rs1810936262
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs) rs1057516263
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs) rs2532704201
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs) rs1562163197
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs) rs2532703909
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter) rs2532702616
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr) rs150032027
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer) rs1554224707
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs) rs2532701914
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.4816del (p.Val1606fs) rs2128142490
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer) rs1057516626
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs) rs2128142414
NM_138694.4(PKHD1):c.4838G>T (p.Cys1613Phe) rs375437755
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) rs1057516885
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) rs2128142132
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.5060T>G (p.Ile1687Arg) rs794727566
NM_138694.4(PKHD1):c.5065del (p.Met1689fs) rs1554198072
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs) rs2532688074
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs) rs2532687516
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs) rs2532687430
NM_138694.4(PKHD1):c.514_515delinsT (p.Glu172fs) rs2533628248
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs) rs2532686105
NM_138694.4(PKHD1):c.5199del (p.Ser1734fs) rs2532684725
NM_138694.4(PKHD1):c.519C>A (p.Tyr173Ter) rs1044839219
NM_138694.4(PKHD1):c.51A>G (p.Ala17=) rs2533801001
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs) rs2532684600
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His) rs2128141336
NM_138694.4(PKHD1):c.5236+1G>A rs398124487
NM_138694.4(PKHD1):c.5236+1G>C rs398124487
NM_138694.4(PKHD1):c.5236+2T>C rs2532683467
NM_138694.4(PKHD1):c.5236+2del
NM_138694.4(PKHD1):c.5237-2A>C rs1554197152
NM_138694.4(PKHD1):c.5249del (p.Gly1750fs) rs2532657307
NM_138694.4(PKHD1):c.527+1G>C rs2533627791
NM_138694.4(PKHD1):c.527+1del rs1057516697
NM_138694.4(PKHD1):c.528-1G>T rs202190787
NM_138694.4(PKHD1):c.528-2A>G rs2533607755
NM_138694.4(PKHD1):c.53-1G>A rs775511838
NM_138694.4(PKHD1):c.53-2A>G rs1554228601
NM_138694.4(PKHD1):c.53-3C>A rs1021843705
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser) rs1801599945
NM_138694.4(PKHD1):c.5336A>T (p.Asn1779Ile) rs1801599945
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu) rs781740739
NM_138694.4(PKHD1):c.5355_5356del (p.Phe1785fs) rs2532653399
NM_138694.4(PKHD1):c.5359T>C (p.Cys1787Arg)
NM_138694.4(PKHD1):c.5380+1G>C rs1354626305
NM_138694.4(PKHD1):c.5380+2T>G rs1801591463
NM_138694.4(PKHD1):c.5381-7_5385del rs2128130561
NM_138694.4(PKHD1):c.5381-9T>G rs1332944383
NM_138694.4(PKHD1):c.538_542delinsC (p.Leu180fs) rs2533607411
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5441dup (p.His1814fs) rs908880474
NM_138694.4(PKHD1):c.5444_5445del (p.Thr1815fs)
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter) rs1057516692
NM_138694.4(PKHD1):c.5457_5458del (p.Cys1819_Asp1820delinsTer) rs1554194504
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) rs1562140771
NM_138694.4(PKHD1):c.5506del (p.Tyr1836fs)
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5598C>G (p.Ile1866Met)
NM_138694.4(PKHD1):c.5600+1G>A rs1581763359
NM_138694.4(PKHD1):c.5609T>A (p.Leu1870Ter) rs773634689
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter) rs1810710453
NM_138694.4(PKHD1):c.5611G>T (p.Glu1871Ter) rs2538116567
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter) rs2128231878
NM_138694.4(PKHD1):c.564dup (p.Thr189fs)
NM_138694.4(PKHD1):c.5663_5666del (p.Thr1888fs) rs2538115028
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs) rs1554191298
NM_138694.4(PKHD1):c.5699_5706del (p.Pro1900fs) rs2538113345
NM_138694.4(PKHD1):c.5738del (p.Gly1913fs) rs2538112218
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter) rs1397593913
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+2T>G rs2538111559
NM_138694.4(PKHD1):c.5752-1G>C rs2537382687
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.5761del (p.Ser1921fs)
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs) rs1791763088
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter) rs1208103544
NM_138694.4(PKHD1):c.5792del (p.Thr1931fs) rs2537381213
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs) rs2537380867
NM_138694.4(PKHD1):c.5808_5809del (p.Glu1937fs) rs2537380561
NM_138694.4(PKHD1):c.5854C>T (p.Gln1952Ter)
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) rs1554162725
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.595G>T (p.Gly199Ter)
NM_138694.4(PKHD1):c.5962_6010dup (p.Pro2004delinsHisProCysPheTer) rs2537012799
NM_138694.4(PKHD1):c.5965dup (p.Leu1989fs) rs2537014883
NM_138694.4(PKHD1):c.5981del (p.Gly1994fs)
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) rs1554144359
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.6007_6008insGTGTGATCTG (p.Lys2003delinsSerValIleTer) rs2537013005
NM_138694.4(PKHD1):c.602+1G>A rs1554223950
NM_138694.4(PKHD1):c.602+2T>A rs2128231798
NM_138694.4(PKHD1):c.6025G>A (p.Ala2009Thr)
NM_138694.4(PKHD1):c.603-1G>A rs1554223403
NM_138694.4(PKHD1):c.6049del (p.Ser2017fs) rs2537011164
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter) rs774944622
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6111_6112del (p.Leu2039fs)
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro) rs777228780
NM_138694.4(PKHD1):c.6121+1G>A
NM_138694.4(PKHD1):c.6121+1G>T rs2127767937
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA rs1057517378
NM_138694.4(PKHD1):c.6125C>A (p.Ser2042Ter) rs1783119923
NM_138694.4(PKHD1):c.6125del (p.Ser2042fs) rs2536685226
NM_138694.4(PKHD1):c.6147delinsAGATGTGTATAAGAGCAG (p.Cys2050fs) rs2536684326
NM_138694.4(PKHD1):c.6187del (p.Ala2063fs) rs2536682811
NM_138694.4(PKHD1):c.6273_6285delinsGAG (p.Glu2092fs) rs2536680046
NM_138694.4(PKHD1):c.6284_6285insAGATG (p.Val2096fs) rs2536680113
NM_138694.4(PKHD1):c.6285del (p.Val2096fs) rs2536680003
NM_138694.4(PKHD1):c.6287_6288del (p.Val2096fs)
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs) rs1554134080
NM_138694.4(PKHD1):c.6312_6313del (p.Tyr2105fs) rs2536679099
NM_138694.4(PKHD1):c.6319_6321delinsT (p.Lys2107fs) rs2536678715
NM_138694.4(PKHD1):c.6323C>A (p.Ser2108Ter) rs1783092153
NM_138694.4(PKHD1):c.6332+1G>A rs1042247087
NM_138694.4(PKHD1):c.6333-1G>C
NM_138694.4(PKHD1):c.6351del (p.Glu2118fs)
NM_138694.4(PKHD1):c.6359G>A (p.Trp2120Ter)
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs) rs2536668310
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs) rs1783005266
NM_138694.4(PKHD1):c.6395_6396del (p.Val2132fs) rs2536666918
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs) rs2127663896
NM_138694.4(PKHD1):c.6433dup (p.Leu2145fs)
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) rs557437764
NM_138694.4(PKHD1):c.6490+1G>A rs1554133736
NM_138694.4(PKHD1):c.6491-1G>A rs1554132790
NM_138694.4(PKHD1):c.6491-2A>G rs2127653183
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter) rs1057516706
NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter) rs1414358425
NM_138694.4(PKHD1):c.6603del (p.Lys2202fs) rs763480901
NM_138694.4(PKHD1):c.6617_6620delinsATAAAGACAGT (p.Phe2206fs) rs2536622666
NM_138694.4(PKHD1):c.6619_6620del (p.Gln2207fs) rs2536622622
NM_138694.4(PKHD1):c.661del (p.Tyr221fs) rs2533586171
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.6630dup (p.Gln2211fs) rs2536622150
NM_138694.4(PKHD1):c.6631C>T (p.Gln2211Ter)
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6667_6668delinsTGA (p.Val2223Ter) rs2536620355
NM_138694.4(PKHD1):c.666C>G (p.Ile222Met)
NM_138694.4(PKHD1):c.6683-2A>C rs2127637373
NM_138694.4(PKHD1):c.6683-2A>G rs2127637373
NM_138694.4(PKHD1):c.6702C>A (p.Cys2234Ter) rs898946249
NM_138694.4(PKHD1):c.673C>G (p.Gln225Glu)
NM_138694.4(PKHD1):c.6758del (p.Lys2253fs) rs2536571707
NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly) rs2536571512
NM_138694.4(PKHD1):c.6776del (p.Phe2259fs) rs2536570679
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6865+2T>C rs2536536790
NM_138694.4(PKHD1):c.6866-16_6866del rs1554299291
NM_138694.4(PKHD1):c.6866-1G>C rs1781631365
NM_138694.4(PKHD1):c.6866-1G>T rs1781631365
NM_138694.4(PKHD1):c.6866-2A>T rs775684274
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6870G>A (p.Trp2290Ter) rs868153877
NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile) rs1781623229
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter) rs1057516441
NM_138694.4(PKHD1):c.6952A>C (p.Thr2318Pro) rs2127622153
NM_138694.4(PKHD1):c.6996+2del rs2127621751
NM_138694.4(PKHD1):c.6996+4A>T rs781173081
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs) rs2536254489
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter) rs2128229167
NM_138694.4(PKHD1):c.703_704insATAAA (p.Gly235fs) rs2533574371
NM_138694.4(PKHD1):c.7060_7061del (p.Gln2354fs) rs2536252125
NM_138694.4(PKHD1):c.707+2T>C rs1554222939
NM_138694.4(PKHD1):c.708-1G>A rs1554222508
NM_138694.4(PKHD1):c.708-2A>C rs753492974
NM_138694.4(PKHD1):c.7081_7082del (p.Thr2361fs) rs2536251395
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
NM_138694.4(PKHD1):c.7088del (p.Asn2363fs)
NM_138694.4(PKHD1):c.7108del (p.Arg2370fs) rs2536250159
NM_138694.4(PKHD1):c.7109+2T>A rs2536250033
NM_138694.4(PKHD1):c.7109+3A>C rs1583202788
NM_138694.4(PKHD1):c.7110-1G>T
NM_138694.4(PKHD1):c.7128C>G (p.Tyr2376Ter) rs1778144240
NM_138694.4(PKHD1):c.7159_7160del (p.Thr2387fs) rs2536226192
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs) rs2536225023
NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs) rs2127551949
NM_138694.4(PKHD1):c.7215+1G>T rs866054011
NM_138694.4(PKHD1):c.7218delinsGTGTATAAGAGACAG (p.Ile2406fs) rs2536182691
NM_138694.4(PKHD1):c.7251_7252delinsT (p.Val2419fs) rs2536181646
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs) rs1057516596
NM_138694.4(PKHD1):c.7289del (p.Leu2430fs) rs2536180239
NM_138694.4(PKHD1):c.7300del (p.Ala2434fs) rs2536179633
NM_138694.4(PKHD1):c.7310C>A (p.Ser2437Ter) rs2536179118
NM_138694.4(PKHD1):c.7311delinsTT (p.Val2438fs) rs2536179053
NM_138694.4(PKHD1):c.7325T>A (p.Leu2442Ter) rs2536178614
NM_138694.4(PKHD1):c.7328T>A (p.Leu2443Ter) rs2536178510
NM_138694.4(PKHD1):c.7328T>G (p.Leu2443Ter)
NM_138694.4(PKHD1):c.7348A>T (p.Lys2450Ter) rs2536177746
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7350+2T>A rs2536177478
NM_138694.4(PKHD1):c.7378A>T (p.Lys2460Ter) rs2536021484
NM_138694.4(PKHD1):c.7393_7404delinsGACA (p.Trp2465fs) rs2536020645
NM_138694.4(PKHD1):c.7394G>A (p.Trp2465Ter) rs2151778258
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter) rs1231660958
NM_138694.4(PKHD1):c.7466C>G (p.Ser2489Ter) rs2536018359
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter) rs2151777194
NM_138694.4(PKHD1):c.7486+1G>T rs1554282419
NM_138694.4(PKHD1):c.7487-1G>C rs2535980723
NM_138694.4(PKHD1):c.7489G>T (p.Gly2497Ter)
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7512_7522del (p.Gln2504fs) rs2535979432
NM_138694.4(PKHD1):c.7531_7532del (p.Ser2511fs) rs2535979060
NM_138694.4(PKHD1):c.7548dup (p.Pro2517fs)
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
NM_138694.4(PKHD1):c.7591_7592del (p.Leu2531fs) rs2535977006
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro) rs1775360219
NM_138694.4(PKHD1):c.7608_7609insGACCCATCCA (p.Ser2537fs) rs2535976216
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) rs1775351921
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys) rs886042259
NM_138694.4(PKHD1):c.7661C>A (p.Ser2554Ter) rs1775347142
NM_138694.4(PKHD1):c.7680_7681del (p.His2561fs) rs2535974279
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter) rs1057516751
NM_138694.4(PKHD1):c.76G>T (p.Glu26Ter)
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg) rs768265052
NM_138694.4(PKHD1):c.7721dup (p.Met2574fs) rs2535972691
NM_138694.4(PKHD1):c.7733+1G>C rs2535972260
NM_138694.4(PKHD1):c.7745del (p.Pro2582fs)
NM_138694.4(PKHD1):c.7757_7761del (p.Tyr2586fs) rs2535815327
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter) rs769256062
NM_138694.4(PKHD1):c.7761_7771del (p.Asp2587_Leu2588insTer) rs2535814752
NM_138694.4(PKHD1):c.776C>G (p.Ser259Ter) rs1160054242
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.779-1G>A rs2533509237
NM_138694.4(PKHD1):c.779-2A>G rs2128224166
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs) rs1057516690
NM_138694.4(PKHD1):c.7876C>T (p.Gln2626Ter) rs2535811033
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs) rs1045491786
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer) rs1057516607
NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs) rs1057516607
NM_138694.4(PKHD1):c.790G>A (p.Val264Met) rs1809647915
NM_138694.4(PKHD1):c.7911+2T>C
NM_138694.4(PKHD1):c.7912-1G>A rs1160209891
NM_138694.4(PKHD1):c.7912-2A>G rs1554271235
NM_138694.4(PKHD1):c.7929del (p.Asp2643fs) rs2535689299
NM_138694.4(PKHD1):c.792_793del (p.Phe265fs) rs1562271639
NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn) rs2535688296
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro) rs778592523
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs) rs1771488619
NM_138694.4(PKHD1):c.8028del (p.Pro2677fs) rs2535685512
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter) rs1057516490
NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly) rs886061616
NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser) rs768660365
NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu) rs768660365
NM_138694.4(PKHD1):c.8089_8090del (p.Arg2697fs) rs2535683148
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_138694.4(PKHD1):c.8102_8107+8del rs2151627285
NM_138694.4(PKHD1):c.8107+1G>C rs1554270880
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs) rs1057516775
NM_138694.4(PKHD1):c.8162dup (p.Thr2722fs) rs1057516775
NM_138694.4(PKHD1):c.8173+2T>G rs2151549200
NM_138694.4(PKHD1):c.8174-1G>A rs2535390528
NM_138694.4(PKHD1):c.8174-2A>G rs1582925274
NM_138694.4(PKHD1):c.8174-2A>T rs1582925274
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter) rs2151512212
NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg) rs764880309
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8241del (p.Gly2748fs) rs2535387554
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_138694.4(PKHD1):c.8303-2A>G rs1554243821
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala) rs1793719203
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter) rs1295577366
NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu) rs2151261317
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu) rs1809634616
NM_138694.4(PKHD1):c.8440+1G>A rs1793689014
NM_138694.4(PKHD1):c.8441-1G>A rs1484189435
NM_138694.4(PKHD1):c.8441-2A>C rs1423279685
NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile) rs375145340
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8494_8496delinsA (p.Ala2832fs)
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro) rs1790936941
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) rs2128223990
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs) rs746625317
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8555-1G>A rs1191618494
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8578del (p.Tyr2860fs) rs2534280802
NM_138694.4(PKHD1):c.8589T>A (p.Tyr2863Ter) rs2534280419
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8604del (p.Ser2867_Trp2868insTer) rs2534279612
NM_138694.4(PKHD1):c.8641A>T (p.Arg2881Ter) rs2534278098
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.865del (p.Gln289fs) rs2533506554
NM_138694.4(PKHD1):c.8670G>A (p.Trp2890Ter)
NM_138694.4(PKHD1):c.8677del (p.His2893fs)
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs) rs1582479341
NM_138694.4(PKHD1):c.8752_8761del (p.Lys2917_Gly2918insTer)
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8766del (p.Ile2923fs)
NM_138694.4(PKHD1):c.8785_8786insCTT (p.His2929delinsProTyr) rs2533948241
NM_138694.4(PKHD1):c.8797+1G>A rs2151020151
NM_138694.4(PKHD1):c.8797+1G>T
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs) rs1057517244
NM_138694.4(PKHD1):c.8846_8847del (p.Glu2949fs) rs2533917198
NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer) rs2533916717
NM_138694.4(PKHD1):c.8864G>A (p.Arg2955Gln) rs1582469538
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu) rs1582469538
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met) rs1453006216
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8926A>T (p.Lys2976Ter) rs1267792511
NM_138694.4(PKHD1):c.8932del (p.Ser2978fs) rs2533912629
NM_138694.4(PKHD1):c.8948C>A (p.Ser2983Ter) rs141169758
NM_138694.4(PKHD1):c.8950+1G>A rs1351918391
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs) rs1057517387
NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His) rs2533834965
NM_138694.4(PKHD1):c.8987dup (p.Gly2997fs) rs2533834113
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9003C>A (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9005C>A (p.Ser3002Ter) rs2533832977
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer) rs1554218926
NM_138694.4(PKHD1):c.9166C>T (p.Gln3056Ter) rs1562224902
NM_138694.4(PKHD1):c.9169del (p.Ala3057fs) rs2533827496
NM_138694.4(PKHD1):c.9171del (p.Tyr3058fs) rs2533827355
NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr) rs2533826606
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9217_9231del (p.Trp3073_Trp3077del) rs2533824812
NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter) rs1250269841
NM_138694.4(PKHD1):c.9247_9257del (p.Val3083fs) rs2533823407
NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del) rs2150985143
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile) rs2533478138
NM_138694.4(PKHD1):c.9345del (p.Glu3115fs) rs2533819057
NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter) rs1467194438
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.937del (p.Ala313fs)
NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn) rs2150983772
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs) rs1057516413
NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr) rs2533814675
NM_138694.4(PKHD1):c.9476T>G (p.Leu3159Ter) rs2533814625
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs) rs1554218519
NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys) rs2533812777
NM_138694.4(PKHD1):c.9533G>T (p.Gly3178Val)
NM_138694.4(PKHD1):c.9539del (p.Leu3180fs)
NM_138694.4(PKHD1):c.9540_9543delinsTTT (p.Leu3180fs) rs2533812482
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs) rs1554218479
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter) rs2150982651
NM_138694.4(PKHD1):c.9600del (p.Arg3201fs) rs2533809692
NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg) rs2533808647
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs) rs2533807398
NM_138694.4(PKHD1):c.9656_9657del (p.Val3219fs) rs2533807192
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
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.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs) rs751754608
NM_138694.4(PKHD1):c.976+2T>A
NM_138694.4(PKHD1):c.977-2A>G rs2533444880
NM_138694.4(PKHD1):c.9829+1G>A rs1273202231
NM_138694.4(PKHD1):c.9829+1dup rs1188399385
NM_138694.4(PKHD1):c.9830-18_9842del rs2533780463
NM_138694.4(PKHD1):c.9830-1G>A rs2533781057
NM_138694.4(PKHD1):c.9830-2A>C rs890681861
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9834del (p.Thr3279fs) rs2533780806
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter) rs1057517357
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs) rs1785246943
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs) rs2533776936
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs) rs2533775776
NM_138694.4(PKHD1):c.9974del (p.Phe3325fs) rs2533775595
NM_138694.4(PKHD1):c.9998+1G>A rs1554217691
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9999-1G>A rs2150963039
NM_138694.4(PKHD1):c.[2165C>T;7438A>T]
NM_144585.4(SLC22A12):c.1429_1451del (p.Arg477fs) rs778022810
NM_144585.4(SLC22A12):c.259C>T (p.Gln87Ter)
NM_144585.4(SLC22A12):c.507-8_511del rs1404199426
NM_144585.4(SLC22A12):c.536del (p.Ser179fs)
NM_144585.4(SLC22A12):c.667G>T (p.Glu223Ter)
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.44dup (p.Arg17fs) rs1131690839
NM_144997.7(FLCN):c.871+2T>C rs2544218927
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter) rs2144896021
NM_147127.5(EVC2):c.1005+1G>A rs2475514671
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter) rs2475506558
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1145+2T>G
NM_147127.5(EVC2):c.1145+2del rs2475505734
NM_147127.5(EVC2):c.1146-2A>T rs1717279590
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs) rs1553840713
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter) rs2108864342
NM_147127.5(EVC2):c.1245del (p.Ser416fs)
NM_147127.5(EVC2):c.1255dup (p.His419fs)
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs) rs2475438548
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs) rs2475438306
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter) rs2475438200
NM_147127.5(EVC2):c.1313del (p.Leu438fs) rs2475438203
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter) rs186349183
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1463del (p.Gly488fs) rs2475437004
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+2T>C rs2475436920
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1511del (p.Gly504fs) rs2475407728
NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter)
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs) rs2475407465
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs) rs2475407458
NM_147127.5(EVC2):c.1595del (p.Phe532fs)
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs) rs2475406567
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs) rs2475395618
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs) rs2475395424
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter) rs779707723
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1997dup (p.Leu667fs) rs2475385758
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter) rs2475385703
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter) rs2475385307
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-1G>T
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs) rs2474141903
NM_147127.5(EVC2):c.2053del (p.Glu685fs) rs2475376968
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs) rs2475376434
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs) rs2475375376
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2239_2243del (p.Ala747fs)
NM_147127.5(EVC2):c.228+2T>G
NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter)
NM_147127.5(EVC2):c.2364del (p.Glu789fs)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs) rs2475374125
NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)
NM_147127.5(EVC2):c.2501+1G>T rs2475373423
NM_147127.5(EVC2):c.2501+2T>G
NM_147127.5(EVC2):c.257_260del (p.Val86fs) rs2474109890
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2707-1G>A rs749251178
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2707-2A>G
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter) rs2475350575
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter) rs2475350406
NM_147127.5(EVC2):c.2829+2T>C rs2475350092
NM_147127.5(EVC2):c.2829+2T>G rs2475350092
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs) rs2475236700
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter) rs1383783171
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs) rs2475236631
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs) rs2475236642
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter) rs868183689
NM_147127.5(EVC2):c.2945dup (p.Ser983fs)
NM_147127.5(EVC2):c.2958del (p.Ala987fs)
NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter)
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter) rs2475235455
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter) rs2475235098
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-1G>C rs1722942071
NM_147127.5(EVC2):c.3058-1G>T rs1722942071
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs) rs2475208623
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter) rs2474100970
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3272+1G>T rs2475207726
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs) rs2475201744
NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter)
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3361-255_3481del
NM_147127.5(EVC2):c.3361-2del rs757914735
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3411del (p.Thr1138fs) rs2475184249
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs) rs2475183787
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter) rs2475182808
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.35G>A (p.Trp12Ter)
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter) rs2151736638
NM_147127.5(EVC2):c.386del (p.Ala129fs)
NM_147127.5(EVC2):c.3G>C (p.Met1Ile)
NM_147127.5(EVC2):c.437_438del (p.Ile146fs) rs2474100239
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1G>C rs1447633595
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.450+2T>G rs781096099
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.466del (p.Arg156fs) rs2475597907
NM_147127.5(EVC2):c.469G>T (p.Glu157Ter)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.520-2A>T rs2475591881
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.558G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs) rs2475591015
NM_147127.5(EVC2):c.711_717del (p.Asp238fs) rs2475579060
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs) rs2475578805
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.775_781del (p.Leu259fs) rs2475578663
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-1G>T rs2475566241
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_147127.5(EVC2):c.870+2T>C
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs) rs2475515476
NM_147127.5(EVC2):c.961del (p.Val321fs) rs2475515135
NM_148960.3(CLDN19):c.140_141del (p.Leu46_Tyr47insTer)
NM_148960.3(CLDN19):c.178_182delinsCCC (p.Gly60fs)
NM_148960.3(CLDN19):c.223+1G>A
NM_148960.3(CLDN19):c.223G>C (p.Gly75Arg)
NM_148960.3(CLDN19):c.241C>T (p.Arg81Trp)
NM_148960.3(CLDN19):c.263T>A (p.Val88Glu)
NM_148960.3(CLDN19):c.263_270dup (p.Gly91fs)
NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg) rs118203981
NM_148960.3(CLDN19):c.530T>G (p.Leu177Arg) rs1651357824
NM_148960.3(CLDN19):c.535G>C (p.Gly179Arg) rs145591298
NM_152383.5(DIS3L2):c.2381_2382del (p.Arg794fs) rs1553551874
NM_152766.5(TMEM256):c.244_265del (p.Phe82fs) rs886039795
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs) rs1560014115
NM_153240.5(NPHP3):c.1157del (p.Asn386fs) rs2530464195
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1468C>T (p.Gln490Ter)
NM_153240.5(NPHP3):c.1525-2A>G rs2530438512
NM_153240.5(NPHP3):c.1628+2T>A rs1277862520
NM_153240.5(NPHP3):c.1675del (p.His559fs) rs1171578361
NM_153240.5(NPHP3):c.1888-13_1913del
NM_153240.5(NPHP3):c.1936_1937del (p.Val646fs)
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.2172-2A>C rs547310372
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) rs1560002147
NM_153240.5(NPHP3):c.3201+1G>T
NM_153240.5(NPHP3):c.3201+2T>G rs1939183391
NM_153240.5(NPHP3):c.326T>A (p.Leu109Ter)
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter) rs1576660495
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs) rs1939111919
NM_153240.5(NPHP3):c.3570+1del
NM_153240.5(NPHP3):c.35del (p.Gly12fs)
NM_153240.5(NPHP3):c.3696_3696+3del rs2530376896
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val) rs775281384
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.544G>T (p.Glu182Ter)
NM_153240.5(NPHP3):c.611dup (p.Ile205fs)
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.728_729dup (p.Gly244Ter)
NM_153240.5(NPHP3):c.823+1G>A
NM_153240.5(NPHP3):c.823+1G>T
NM_153332.4(ERI1):c.627del (p.Lys209_Val210insTer) rs1563322318
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys) rs754370463
NM_153704.6(TMEM67):c.103C>T (p.Gln35Ter)
NM_153704.6(TMEM67):c.1123C>T (p.Gln375Ter)
NM_153704.6(TMEM67):c.1318C>G (p.Arg440Gly)
NM_153704.6(TMEM67):c.1338_1350del (p.Ala447fs) rs2130690833
NM_153704.6(TMEM67):c.1412+1G>T
NM_153704.6(TMEM67):c.1413-2A>G rs786205608
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1675-1G>A
NM_153704.6(TMEM67):c.1860+1G>A
NM_153704.6(TMEM67):c.1991del (p.Pro664fs)
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2242-2A>T
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs) rs2536929958
NM_153704.6(TMEM67):c.2764+2T>G rs1293481687
NM_153704.6(TMEM67):c.312+1G>A
NM_153704.6(TMEM67):c.313-2A>G
NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly) rs1014876003
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter) rs1563672487
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.538del (p.Thr180fs)
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr) rs1813039419
NM_153704.6(TMEM67):c.637C>T (p.Arg213Cys)
NM_153704.6(TMEM67):c.869+1G>C rs773594502
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.-31_15dup (p.Ala6fs)
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs) rs2475164777
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs) rs2475165491
NM_153717.3(EVC):c.1084del (p.Glu362fs)
NM_153717.3(EVC):c.1098+1G>A rs1729681346
NM_153717.3(EVC):c.1099-1G>A rs2475378269
NM_153717.3(EVC):c.1099-2A>C rs1553875596
NM_153717.3(EVC):c.1113del (p.Thr372fs) rs2152076090
NM_153717.3(EVC):c.1128_1132del (p.His377fs) rs2475380111
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs) rs2475380993
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs) rs2475381257
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs) rs2475383552
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs) rs2475386527
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter) rs2475386875
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs) rs2475387716
NM_153717.3(EVC):c.1316-7A>G
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs) rs2475422633
NM_153717.3(EVC):c.1363C>T (p.Gln455Ter) rs1730766213
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs) rs2474191369
NM_153717.3(EVC):c.1409del (p.Gln470fs) rs1388794781
NM_153717.3(EVC):c.1465-1G>A rs1731156302
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.1572del (p.Phe525fs) rs2476465516
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs) rs2476467795
NM_153717.3(EVC):c.1652dup (p.Glu552fs) rs1312383000
NM_153717.3(EVC):c.1662_1663del (p.Cys554_Asp555delinsTer)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1765del (p.Gln589fs) rs2476474498
NM_153717.3(EVC):c.1776+2T>C rs1577564571
NM_153717.3(EVC):c.1803del (p.Ser602fs) rs2474306346
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1858_1878del (p.Leu620_Leu626del)
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs) rs2474308188
NM_153717.3(EVC):c.1886+1G>C rs753679094
NM_153717.3(EVC):c.1886+2T>G rs1713228964
NM_153717.3(EVC):c.1887-2A>T rs2474380998
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1981C>T (p.Gln661Ter)
NM_153717.3(EVC):c.1A>G (p.Met1Val) rs1324604027
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter) rs367968708
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter) rs201877358
NM_153717.3(EVC):c.2097+1G>A rs1553891368
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2097+2del rs2152340942
NM_153717.3(EVC):c.2098-1G>C rs773019082
NM_153717.3(EVC):c.2098-2A>G rs1714398710
NM_153717.3(EVC):c.2143_2144del (p.Gln715fs)
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter) rs2474424607
NM_153717.3(EVC):c.220C>T (p.Gln74Ter)
NM_153717.3(EVC):c.228_234del (p.Ser77fs) rs2474375068
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs) rs2474508277
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C rs2474508727
NM_153717.3(EVC):c.2450-1G>A rs1715585498
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2677_2688+7del rs2152387946
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+2T>G rs1577664431
NM_153717.3(EVC):c.2695G>T (p.Glu899Ter)
NM_153717.3(EVC):c.26_36del (p.Lys9fs) rs2474192093
NM_153717.3(EVC):c.26del (p.Lys9fs) rs2474192025
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.2889dup (p.Leu964fs)
NM_153717.3(EVC):c.29_30insA (p.Ser10fs) rs2474192211
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr) rs1553857801
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.37_40del (p.Arg13fs) rs2474192685
NM_153717.3(EVC):c.37del (p.Arg13fs) rs2474192655
NM_153717.3(EVC):c.384+1G>T
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.39_40del (p.Leu14fs) rs2474192840
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs) rs2474190790
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs) rs2474192907
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs) rs2474193071
NM_153717.3(EVC):c.48_55del (p.Gly17fs) rs2474193269
NM_153717.3(EVC):c.54_61del (p.Asp19fs) rs2474193568
NM_153717.3(EVC):c.56_174+42del rs2474193391
NM_153717.3(EVC):c.585_586insT (p.Asn196Ter)
NM_153717.3(EVC):c.59_60insA (p.Leu21fs) rs2474193836
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs) rs2474193910
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+2T>A rs2474673801
NM_153717.3(EVC):c.618-1G>A
NM_153717.3(EVC):c.636T>A (p.Cys212Ter) rs2151945944
NM_153717.3(EVC):c.64_79del (p.Arg22fs) rs2474194160
NM_153717.3(EVC):c.650_651del (p.His217fs) rs2474716928
NM_153717.3(EVC):c.653T>G (p.Leu218Ter) rs2474717066
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.703-1G>C rs1485152854
NM_153717.3(EVC):c.708del (p.Phe236fs) rs2474944725
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs) rs2474947769
NM_153717.3(EVC):c.801+1G>T rs1447653524
NM_153717.3(EVC):c.801+2T>C rs1553871866
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.801del (p.Asp268fs) rs777852863
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.802-2A>G rs2475056620
NM_153717.3(EVC):c.840_846del (p.Ser281fs) rs2475058279
NM_153717.3(EVC):c.857C>A (p.Ser286Ter) rs139263450
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs) rs2474191062
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.90_91insT (p.Ala31fs)
NM_153717.3(EVC):c.910del (p.Arg304fs) rs2475062325
NM_153717.3(EVC):c.918C>G (p.Tyr306Ter)
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.939+1G>C rs1553873138
NM_153717.3(EVC):c.940-150T>G rs576076928
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs) rs2475161271
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs) rs2475161920
NM_153766.3(KCNJ1):c.219G>A (p.Trp73Ter)
NM_153766.3(KCNJ1):c.227T>C (p.Phe76Ser)
NM_153766.3(KCNJ1):c.240G>A (p.Trp80Ter) rs1213764655
NM_153766.3(KCNJ1):c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe) rs2497572464
NM_153766.3(KCNJ1):c.308T>A (p.Val103Glu)
NM_153766.3(KCNJ1):c.388G>T (p.Val130Leu)
NM_153766.3(KCNJ1):c.406dup (p.Thr136fs)
NM_153766.3(KCNJ1):c.416_417del (p.Phe139fs) rs762787323
NM_153766.3(KCNJ1):c.424_427del (p.Ile142fs)
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr) rs758128834
NM_153766.3(KCNJ1):c.499A>G (p.Lys167Glu)
NM_153766.3(KCNJ1):c.504del (p.Lys168fs) rs769554073
NM_153766.3(KCNJ1):c.504dup (p.Arg169fs) rs769554073
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr) rs104894253
NM_153766.3(KCNJ1):c.535G>T (p.Ala179Ser)
NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg) rs1411280373
NM_153766.3(KCNJ1):c.624T>A (p.Tyr208Ter)
NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs) rs2497573845
NM_153766.3(KCNJ1):c.731T>G (p.Ile244Ser)
NM_153766.3(KCNJ1):c.770G>A (p.Ser257Asn)
NM_153766.3(KCNJ1):c.770G>T (p.Ser257Ile)
NM_153766.3(KCNJ1):c.899_900del (p.Val300fs) rs2497567253
NM_153766.3(KCNJ1):c.901del (p.Leu301fs)
NM_153766.3(KCNJ1):c.983del (p.Thr328fs)
NM_170784.3(MKKS):c.958_959del (p.Leu320fs) rs770908659
NM_173543.3(DZIP1L):c.1570C>T (p.Gln524Ter) rs929750748
NM_173543.3(DZIP1L):c.2014C>T (p.Gln672Ter) rs970655990
NM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter) rs747165958
NM_173551.5(ANKS6):c.1318C>T (p.Arg440Ter)
NM_173551.5(ANKS6):c.1965_1966delinsA (p.Asn655fs)
NM_173551.5(ANKS6):c.2041C>T (p.Gln681Ter)
NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn) rs2490379427
NM_173551.5(ANKS6):c.2394+1G>A rs897128993
NM_173551.5(ANKS6):c.2420dup (p.Thr808fs) rs2131933650
NM_173551.5(ANKS6):c.349C>T (p.Gln117Ter)
NM_173551.5(ANKS6):c.363dup (p.Gly122fs)
NM_173551.5(ANKS6):c.478dup (p.Val160fs)
NM_173551.5(ANKS6):c.864del (p.Asp288fs)
NM_173551.5(ANKS6):c.877C>T (p.Arg293Ter)
NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro) rs1834431706
NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala) rs1834431047
NM_173689.7(CRB2):c.2660_2661insTT (p.Ser888fs)
NM_173689.7(CRB2):c.2661_2662insC (p.Ser888fs)
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_173689.7(CRB2):c.315C>A (p.Cys105Ter) rs149815227
NM_173689.7(CRB2):c.3262G>A (p.Gly1088Ser) rs899356265
NM_173689.7(CRB2):c.47_53dup (p.Leu19fs) rs1588200023
NM_175914.5(HNF4A):c.1217-1G>A
NM_175914.5(HNF4A):c.124G>A (p.Gly42Arg) rs769007443
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_177433.3(MAGED2):c.1386+1G>A rs2519310187
NM_177550.5(SLC13A5):c.231+2T>G rs730882222
NM_178170.3(NEK8):c.1068G>A (p.Trp356Ter)
NM_178170.3(NEK8):c.1224_1227del
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_178170.3(NEK8):c.1359_1360del (p.His454fs) rs1282492342
NM_178170.3(NEK8):c.1417+1G>C
NM_178170.3(NEK8):c.1418-1G>A
NM_178170.3(NEK8):c.1418-2A>C rs2544444797
NM_178170.3(NEK8):c.1495C>T (p.Arg499Ter)
NM_178170.3(NEK8):c.1910G>A (p.Trp637Ter)
NM_178170.3(NEK8):c.763C>T (p.Gln255Ter)
NM_178170.3(NEK8):c.889+2del rs1555564214
NM_178170.3(NEK8):c.995_996del (p.Thr332fs)
NM_182476.3(COQ6):c.1079G>T (p.Arg360Leu) rs367817034
NM_182476.3(COQ6):c.10C>T (p.Arg4Trp)
NM_182476.3(COQ6):c.22_44dup (p.Pro16fs)
NM_182476.3(COQ6):c.352del (p.Met118fs)
NM_182476.3(COQ6):c.613-8_614del
NM_182476.3(COQ6):c.988C>T (p.Gln330Ter)
NM_182758.4(WDR72):c.477_485dup (p.Ile159_Cys161dup) rs2140558454
NM_182758.4(WDR72):c.764_768del (p.Gly255fs) rs1469562355
NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs) rs2106648140
NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter) rs2139949646
NM_197968.4(ZMYM2):c.1367dup (p.Tyr456Ter) rs2139974502
NM_197968.4(ZMYM2):c.1607del (p.Cys536fs) rs2140253640
NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter) rs1309291116
NM_197968.4(ZMYM2):c.1623_1627del (p.Cys543fs) rs2140253913
NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter) rs2140369057
NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter) rs757669327
NM_197968.4(ZMYM2):c.2434_2437del (p.Lys812fs) rs2140576563
NM_197968.4(ZMYM2):c.2494-1G>A rs2140726371
NM_197968.4(ZMYM2):c.3130_3131dup (p.Gly1045fs) rs753611080
NM_197968.4(ZMYM2):c.3176dup (p.Asp1059fs) rs2140884265
NM_197968.4(ZMYM2):c.3246G>A (p.Trp1082Ter) rs2140884891
NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter) rs2139746476
NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer) rs2139748846
NM_198334.3(GANAB):c.1240C>T (p.Gln414Ter)
NM_198334.3(GANAB):c.12_38+2del rs2539052796
NM_198334.3(GANAB):c.1364_1370del (p.Arg455fs)
NM_198334.3(GANAB):c.1429T>C (p.Tyr477His) rs2496333718
NM_198334.3(GANAB):c.1561_1565delinsGGGG (p.Trp521fs)
NM_198334.3(GANAB):c.1738-1G>A
NM_198334.3(GANAB):c.174_175del (p.Pro59fs) rs2539030948
NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys) rs1565093675
NM_198334.3(GANAB):c.199_200del (p.Leu67fs)
NM_198334.3(GANAB):c.2092C>T (p.Arg698Ter)
NM_198334.3(GANAB):c.2327G>A (p.Trp776Ter)
NM_198334.3(GANAB):c.2330_2331delinsG (p.Tyr777fs)
NM_198334.3(GANAB):c.2336_2339del (p.Ile779fs)
NM_198334.3(GANAB):c.2434C>T (p.Arg812Ter) rs2496294228
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp) rs879255643
NM_198334.3(GANAB):c.2496_2502del (p.Ser835fs)
NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter) rs1210158408
NM_198334.3(GANAB):c.274C>T (p.Gln92Ter)
NM_198334.3(GANAB):c.283C>T (p.Gln95Ter)
NM_198334.3(GANAB):c.328C>T (p.Arg110Ter)
NM_198334.3(GANAB):c.334C>T (p.Arg112Ter)
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter) rs754785664
NM_198334.3(GANAB):c.516_517delinsAT (p.Arg173Ter)
NM_198334.3(GANAB):c.517C>T (p.Arg173Ter) rs1394696665
NM_198334.3(GANAB):c.631-1G>T
NM_198334.3(GANAB):c.677G>A (p.Trp226Ter) rs1943774392
NM_198334.3(GANAB):c.842dup (p.Asn281fs)
NM_207361.6(FREM2):c.649C>T (p.Arg217Cys) rs199674984
NM_212482.4(FN1):c.2627A>G (p.Tyr876Cys)
NM_212482.4(FN1):c.5773T>C (p.Trp1925Arg)
NM_213655.5(WNK1):c.2140-1G>A rs1289250994
NM_213655.5(WNK1):c.2560C>T (p.Gln854Ter)
Single allele

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