ClinVar Miner

List of variants in gene UNC80 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2084
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.3977-4C>A rs2370838 0.98394
NM_001371986.1(UNC80):c.9069G>A (p.Gln3023=) rs2075117 0.63732
NM_001371986.1(UNC80):c.9119-36A>G rs2723222 0.43696
NM_001371986.1(UNC80):c.3455-13A>G rs2191906 0.19284
NM_001371986.1(UNC80):c.3333C>G (p.Leu1111=) rs10178675 0.17606
NM_001371986.1(UNC80):c.3250+46C>A rs9288414 0.15170
NM_001371986.1(UNC80):c.7218A>G (p.Thr2406=) rs10178327 0.10279
NM_001371986.1(UNC80):c.2332-7G>T rs7581661 0.09218
NM_001371986.1(UNC80):c.7263G>A (p.Ala2421=) rs10202111 0.08332
NM_001371986.1(UNC80):c.2295C>T (p.Gly765=) rs13432245 0.07081
NM_001371986.1(UNC80):c.7434G>A (p.Leu2478=) rs16843977 0.06665
NM_001371986.1(UNC80):c.2028G>A (p.Ala676=) rs13432185 0.06570
NM_001371986.1(UNC80):c.180C>T (p.Gly60=) rs60856233 0.02643
NM_001371986.1(UNC80):c.6148G>C (p.Val2050Leu) rs61749490 0.02503
NM_001371986.1(UNC80):c.672C>T (p.Pro224=) rs76851741 0.02348
NM_001371986.1(UNC80):c.1014A>G (p.Leu338=) rs61745849 0.02298
NM_001371986.1(UNC80):c.4581+16A>C rs73078938 0.01944
NM_001371986.1(UNC80):c.58C>T (p.Leu20=) rs145528914 0.01662
NM_001371986.1(UNC80):c.2835C>T (p.Val945=) rs75245711 0.01614
NM_001371986.1(UNC80):c.3202T>G (p.Ser1068Ala) rs148484278 0.01444
NM_001371986.1(UNC80):c.3078A>G (p.Lys1026=) rs112831177 0.01441
NM_001371986.1(UNC80):c.3264G>A (p.Lys1088=) rs116304707 0.01440
NM_001371986.1(UNC80):c.1725G>A (p.Ala575=) rs77323032 0.01290
NM_001371986.1(UNC80):c.1585G>T (p.Ala529Ser) rs143103069 0.01288
NM_001371986.1(UNC80):c.2006G>C (p.Ser669Thr) rs149024162 0.01287
NM_001371986.1(UNC80):c.9503C>T (p.Pro3168Leu) rs61271372 0.01165
NM_001371986.1(UNC80):c.600+11A>T rs142417033 0.01037
NM_001371986.1(UNC80):c.600+5G>A rs116203254 0.00800
NM_001371986.1(UNC80):c.391C>T (p.Arg131Trp) rs35822936 0.00692
NM_001371986.1(UNC80):c.3926C>T (p.Thr1309Ile) rs78846221 0.00633
NM_001371986.1(UNC80):c.6090C>T (p.Tyr2030=) rs114971232 0.00611
NM_001371986.1(UNC80):c.3000T>C (p.Cys1000=) rs139128995 0.00530
NM_001371986.1(UNC80):c.9614C>G (p.Ala3205Gly) rs143679498 0.00525
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_001371986.1(UNC80):c.4890+7T>G rs113342352 0.00404
NM_001371986.1(UNC80):c.1620C>G (p.Ser540=) rs182186415 0.00381
NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=) rs192024023 0.00357
NM_001371986.1(UNC80):c.2231A>G (p.Glu744Gly) rs202155016 0.00317
NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg) rs59504201 0.00276
NM_001371986.1(UNC80):c.3251-13A>C rs78483370 0.00255
NM_001371986.1(UNC80):c.7470C>T (p.Ala2490=) rs77708914 0.00238
NM_001371986.1(UNC80):c.404C>T (p.Thr135Ile) rs146163378 0.00230
NM_001371986.1(UNC80):c.934T>G (p.Ser312Ala) rs142256832 0.00204
NM_001371986.1(UNC80):c.9141C>T (p.Ser3047=) rs73003402 0.00200
NM_001371986.1(UNC80):c.9945G>A (p.Thr3315=) rs141603698 0.00200
NM_001371986.1(UNC80):c.3250+9A>G rs144170692 0.00196
NM_001371986.1(UNC80):c.4481-5T>C rs113865560 0.00175
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) rs192242889 0.00168
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_001371986.1(UNC80):c.9933G>A (p.Glu3311=) rs138970658 0.00150
NM_001371986.1(UNC80):c.1818G>A (p.Pro606=) rs61742726 0.00141
NM_001371986.1(UNC80):c.6357C>T (p.Tyr2119=) rs75953381 0.00112
NM_001371986.1(UNC80):c.1707C>T (p.Ile569=) rs55712736 0.00106
NM_001371986.1(UNC80):c.4572G>A (p.Ser1524=) rs200541732 0.00098
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_001371986.1(UNC80):c.9885C>G (p.Gly3295=) rs146118533 0.00093
NM_001371986.1(UNC80):c.2382C>T (p.Ile794=) rs367953994 0.00090
NM_001371986.1(UNC80):c.3372T>G (p.Ser1124Arg) rs199664663 0.00090
NM_001371986.1(UNC80):c.2616G>A (p.Pro872=) rs200238702 0.00086
NM_001371986.1(UNC80):c.2775+17T>A rs554418588 0.00081
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr) rs78499613 0.00073
NM_001371986.1(UNC80):c.9569C>T (p.Thr3190Ile) rs370771331 0.00066
NM_001371986.1(UNC80):c.6165C>T (p.Thr2055=) rs76521176 0.00064
NM_001371986.1(UNC80):c.3428A>C (p.Glu1143Ala) rs78912192 0.00063
NM_001371986.1(UNC80):c.765T>C (p.Cys255=) rs145935313 0.00062
NM_001371986.1(UNC80):c.4203T>C (p.Asn1401=) rs372576235 0.00054
NM_001371986.1(UNC80):c.6555C>T (p.His2185=) rs78714720 0.00051
NM_001371986.1(UNC80):c.9807T>C (p.Pro3269=) rs375009789 0.00051
NM_001371986.1(UNC80):c.8528C>T (p.Ala2843Val) rs199561408 0.00049
NM_001371986.1(UNC80):c.4543G>A (p.Ala1515Thr) rs553977942 0.00048
NM_001371986.1(UNC80):c.9576G>A (p.Ala3192=) rs367969794 0.00048
NM_001371986.1(UNC80):c.8275C>A (p.Pro2759Thr) rs577801702 0.00045
NM_001371986.1(UNC80):c.6024C>T (p.Thr2008=) rs374791576 0.00044
NM_001371986.1(UNC80):c.4075T>C (p.Ser1359Pro) rs61745161 0.00043
NM_001371986.1(UNC80):c.840C>G (p.Ile280Met) rs142126808 0.00043
NM_001371986.1(UNC80):c.9574G>A (p.Ala3192Thr) rs374099897 0.00043
NM_001371986.1(UNC80):c.2394G>A (p.Lys798=) rs61730238 0.00041
NM_001371986.1(UNC80):c.9144G>A (p.Val3048=) rs367569387 0.00038
NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile) rs372195299 0.00036
NM_001371986.1(UNC80):c.1470C>T (p.Ser490=) rs376432931 0.00035
NM_001371986.1(UNC80):c.8587+16C>T rs183458975 0.00035
NM_001371986.1(UNC80):c.4116G>A (p.Leu1372=) rs144627704 0.00034
NM_001371986.1(UNC80):c.9396+12C>A rs375477071 0.00034
NM_001371986.1(UNC80):c.9397-4T>C rs372752945 0.00034
NM_001371986.1(UNC80):c.1221C>T (p.Asn407=) rs200884661 0.00033
NM_001371986.1(UNC80):c.6758T>C (p.Met2253Thr) rs528391043 0.00031
NM_001371986.1(UNC80):c.939-12G>A rs369925343 0.00031
NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=) rs376511864 0.00031
NM_001371986.1(UNC80):c.3882T>C (p.Ser1294=) rs770458888 0.00030
NM_001371986.1(UNC80):c.9471C>T (p.Thr3157=) rs745339116 0.00029
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) rs144011305 0.00028
NM_001371986.1(UNC80):c.3243C>T (p.Leu1081=) rs183886966 0.00024
NM_001371986.1(UNC80):c.1313T>C (p.Leu438Pro) rs200743585 0.00023
NM_001371986.1(UNC80):c.3999C>T (p.Cys1333=) rs545998598 0.00023
NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys) rs199783352 0.00023
NM_001371986.1(UNC80):c.6702G>A (p.Leu2234=) rs139008923 0.00022
NM_001371986.1(UNC80):c.9680C>T (p.Ala3227Val) rs368594548 0.00022
NM_001371986.1(UNC80):c.1261G>C (p.Val421Leu) rs778162811 0.00021
NM_001371986.1(UNC80):c.4863C>T (p.Ser1621=) rs367616640 0.00021
NM_001371986.1(UNC80):c.6771C>T (p.Asn2257=) rs373878779 0.00021
NM_001371986.1(UNC80):c.9257+11A>G rs377308612 0.00020
NM_001371986.1(UNC80):c.6837C>T (p.Thr2279=) rs550268755 0.00019
NM_001371986.1(UNC80):c.7533G>A (p.Ser2511=) rs377623816 0.00019
NM_001371986.1(UNC80):c.9396+19C>T rs369463528 0.00019
NM_001371986.1(UNC80):c.1201-14C>G rs1048381000 0.00018
NM_001371986.1(UNC80):c.3357+15A>G rs764208869 0.00018
NM_001371986.1(UNC80):c.9888G>C (p.Met3296Ile) rs200723471 0.00017
NM_001371986.1(UNC80):c.1917C>T (p.Asp639=) rs1458152579 0.00016
NM_001371986.1(UNC80):c.3840+10C>T rs540764479 0.00016
NM_001371986.1(UNC80):c.9142G>A (p.Val3048Met) rs577009807 0.00016
NM_001371986.1(UNC80):c.8719G>A (p.Val2907Met) rs758252802 0.00015
NM_001371986.1(UNC80):c.3873C>T (p.His1291=) rs372732910 0.00014
NM_001371986.1(UNC80):c.5373C>T (p.Arg1791=) rs113111505 0.00014
NM_001371986.1(UNC80):c.8461A>G (p.Ser2821Gly) rs201695718 0.00014
NM_001371986.1(UNC80):c.5622C>T (p.Arg1874=) rs759269541 0.00013
NM_001371986.1(UNC80):c.9536T>C (p.Ile3179Thr) rs376637361 0.00013
NM_001371986.1(UNC80):c.2237G>A (p.Gly746Glu) rs767468494 0.00012
NM_001371986.1(UNC80):c.6274-10A>T rs75921948 0.00012
NM_001371986.1(UNC80):c.1553-12T>C rs930261084 0.00011
NM_001371986.1(UNC80):c.6466-17G>T rs549689633 0.00011
NM_001371986.1(UNC80):c.8027C>T (p.Pro2676Leu) rs750290879 0.00011
NM_001371986.1(UNC80):c.2874C>G (p.Ala958=) rs756648889 0.00010
NM_001371986.1(UNC80):c.3536G>A (p.Arg1179Gln) rs753202029 0.00010
NM_001371986.1(UNC80):c.5691G>A (p.Pro1897=) rs528937957 0.00010
NM_001371986.1(UNC80):c.6646+19T>G rs74526281 0.00010
NM_001371986.1(UNC80):c.6721G>A (p.Gly2241Ser) rs764166622 0.00010
NM_001371986.1(UNC80):c.7550+12C>T rs543197137 0.00010
NM_001371986.1(UNC80):c.8089C>T (p.Leu2697=) rs548643160 0.00010
NM_001371986.1(UNC80):c.9191G>A (p.Arg3064Gln) rs371593882 0.00010
NM_001371986.1(UNC80):c.2701G>A (p.Val901Ile) rs146821032 0.00009
NM_001371986.1(UNC80):c.3161C>T (p.Thr1054Met) rs952981880 0.00009
NM_001371986.1(UNC80):c.5520G>A (p.Pro1840=) rs201023763 0.00009
NM_001371986.1(UNC80):c.6882C>T (p.Ser2294=) rs753368038 0.00009
NM_001371986.1(UNC80):c.8442C>T (p.Leu2814=) rs980226845 0.00009
NM_001371986.1(UNC80):c.8795A>C (p.Asn2932Thr) rs771284860 0.00009
NM_001371986.1(UNC80):c.903C>G (p.Ser301=) rs140307609 0.00009
NM_001371986.1(UNC80):c.9078G>A (p.Ser3026=) rs564176510 0.00009
NM_001371986.1(UNC80):c.2627-17G>A rs76396822 0.00008
NM_001371986.1(UNC80):c.3969A>G (p.Leu1323=) rs574998170 0.00008
NM_001371986.1(UNC80):c.4000G>A (p.Gly1334Ser) rs192000747 0.00008
NM_001371986.1(UNC80):c.4704C>T (p.Leu1568=) rs372650028 0.00008
NM_001371986.1(UNC80):c.5499A>G (p.Thr1833=) rs77584629 0.00008
NM_001371986.1(UNC80):c.6364-14T>C rs912508407 0.00008
NM_001371986.1(UNC80):c.8968G>A (p.Val2990Met) rs555678095 0.00008
NM_001371986.1(UNC80):c.993C>T (p.Asp331=) rs950899164 0.00008
NM_001371986.1(UNC80):c.2667C>T (p.Asn889=) rs768931804 0.00007
NM_001371986.1(UNC80):c.2899G>T (p.Val967Leu) rs900681798 0.00007
NM_001371986.1(UNC80):c.3105C>A (p.Ser1035=) rs563718008 0.00007
NM_001371986.1(UNC80):c.3149C>T (p.Thr1050Ile) rs577704301 0.00007
NM_001371986.1(UNC80):c.3877G>C (p.Glu1293Gln) rs187089611 0.00007
NM_001371986.1(UNC80):c.4163A>G (p.Tyr1388Cys) rs1010694010 0.00007
NM_001371986.1(UNC80):c.4885C>T (p.Leu1629Phe) rs745930170 0.00007
NM_001371986.1(UNC80):c.7989T>C (p.His2663=) rs532288458 0.00007
NM_001371986.1(UNC80):c.8166T>C (p.Asp2722=) rs199923534 0.00007
NM_001371986.1(UNC80):c.9118+15A>G rs376430825 0.00007
NM_001371986.1(UNC80):c.1135C>T (p.Pro379Ser) rs373130347 0.00006
NM_001371986.1(UNC80):c.1609G>A (p.Ala537Thr) rs1039801430 0.00006
NM_001371986.1(UNC80):c.1816C>T (p.Pro606Ser) rs368452978 0.00006
NM_001371986.1(UNC80):c.1940A>G (p.Lys647Arg) rs1370143975 0.00006
NM_001371986.1(UNC80):c.2063T>C (p.Val688Ala) rs369077089 0.00006
NM_001371986.1(UNC80):c.3001C>T (p.Arg1001Cys) rs374099180 0.00006
NM_001371986.1(UNC80):c.3357+12A>G rs1164061431 0.00006
NM_001371986.1(UNC80):c.3465T>C (p.Ser1155=) rs908387538 0.00006
NM_001371986.1(UNC80):c.3904G>C (p.Gly1302Arg) rs1005606432 0.00006
NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln) rs182597438 0.00006
NM_001371986.1(UNC80):c.5690C>T (p.Pro1897Leu) rs375408625 0.00006
NM_001371986.1(UNC80):c.601-5C>A rs181537497 0.00006
NM_001371986.1(UNC80):c.6465+14T>C rs1331345975 0.00006
NM_001371986.1(UNC80):c.6751G>A (p.Glu2251Lys) rs758872196 0.00006
NM_001371986.1(UNC80):c.6783G>A (p.Gly2261=) rs746042765 0.00006
NM_001371986.1(UNC80):c.7833G>A (p.Leu2611=) rs1274263915 0.00006
NM_001371986.1(UNC80):c.7883G>A (p.Arg2628His) rs538813438 0.00006
NM_001371986.1(UNC80):c.8381-20T>G rs762346908 0.00006
NM_001371986.1(UNC80):c.8381-9G>A rs956086398 0.00006
NM_001371986.1(UNC80):c.8543G>A (p.Arg2848His) rs922116561 0.00006
NM_001371986.1(UNC80):c.8675G>A (p.Arg2892Gln) rs568007245 0.00006
NM_001371986.1(UNC80):c.9017G>A (p.Arg3006His) rs371059292 0.00006
NM_001371986.1(UNC80):c.9315-4G>A rs372502192 0.00006
NM_001371986.1(UNC80):c.1822A>G (p.Met608Val) rs369499490 0.00005
NM_001371986.1(UNC80):c.4762C>T (p.Arg1588Trp) rs1018832516 0.00005
NM_001371986.1(UNC80):c.5662+18C>T rs143506865 0.00005
NM_001371986.1(UNC80):c.6465+12C>T rs923986182 0.00005
NM_001371986.1(UNC80):c.6505T>C (p.Phe2169Leu) rs374686433 0.00005
NM_001371986.1(UNC80):c.7655G>A (p.Arg2552Gln) rs184869513 0.00005
NM_001371986.1(UNC80):c.7880G>A (p.Arg2627Gln) rs79390501 0.00005
NM_001371986.1(UNC80):c.7963T>C (p.Leu2655=) rs186441573 0.00005
NM_001371986.1(UNC80):c.8256+15C>T rs989289377 0.00005
NM_001371986.1(UNC80):c.8324G>A (p.Gly2775Glu) rs543684178 0.00005
NM_001371986.1(UNC80):c.865T>C (p.Cys289Arg) rs773501072 0.00005
NM_001371986.1(UNC80):c.9027G>A (p.Thr3009=) rs143537680 0.00005
NM_001371986.1(UNC80):c.9224C>T (p.Pro3075Leu) rs544636492 0.00005
NM_001371986.1(UNC80):c.1112C>T (p.Pro371Leu) rs554862246 0.00004
NM_001371986.1(UNC80):c.1280G>A (p.Arg427His) rs751599076 0.00004
NM_001371986.1(UNC80):c.1514G>A (p.Arg505Gln) rs967949743 0.00004
NM_001371986.1(UNC80):c.1795C>T (p.Leu599Phe) rs1054019518 0.00004
NM_001371986.1(UNC80):c.1829A>G (p.His610Arg) rs548383154 0.00004
NM_001371986.1(UNC80):c.1910A>G (p.His637Arg) rs188667729 0.00004
NM_001371986.1(UNC80):c.2045G>T (p.Cys682Phe) rs61738497 0.00004
NM_001371986.1(UNC80):c.2234G>C (p.Gly745Ala) rs1380904876 0.00004
NM_001371986.1(UNC80):c.2267A>T (p.Asp756Val) rs371038819 0.00004
NM_001371986.1(UNC80):c.2479G>A (p.Ala827Thr) rs532893121 0.00004
NM_001371986.1(UNC80):c.2571T>C (p.Asn857=) rs1043222623 0.00004
NM_001371986.1(UNC80):c.2615C>T (p.Pro872Leu) rs368223888 0.00004
NM_001371986.1(UNC80):c.2685T>C (p.Asn895=) rs774153512 0.00004
NM_001371986.1(UNC80):c.2951C>T (p.Ala984Val) rs776433985 0.00004
NM_001371986.1(UNC80):c.298+2T>C rs143612678 0.00004
NM_001371986.1(UNC80):c.299-17G>A rs376345320 0.00004
NM_001371986.1(UNC80):c.3031A>T (p.Thr1011Ser) rs953358458 0.00004
NM_001371986.1(UNC80):c.3162G>A (p.Thr1054=) rs367811380 0.00004
NM_001371986.1(UNC80):c.3270A>C (p.Ser1090=) rs549201720 0.00004
NM_001371986.1(UNC80):c.3329G>A (p.Arg1110Gln) rs759835534 0.00004
NM_001371986.1(UNC80):c.3514G>A (p.Val1172Met) rs201318495 0.00004
NM_001371986.1(UNC80):c.3589A>G (p.Ile1197Val) rs1046397341 0.00004
NM_001371986.1(UNC80):c.383A>G (p.Asn128Ser) rs367659566 0.00004
NM_001371986.1(UNC80):c.3915C>T (p.Tyr1305=) rs1040212766 0.00004
NM_001371986.1(UNC80):c.4539C>T (p.Ala1513=) rs533991987 0.00004
NM_001371986.1(UNC80):c.4544C>T (p.Ala1515Val) rs750442854 0.00004
NM_001371986.1(UNC80):c.4545G>A (p.Ala1515=) rs143838455 0.00004
NM_001371986.1(UNC80):c.458A>T (p.Glu153Val) rs200046472 0.00004
NM_001371986.1(UNC80):c.4622C>T (p.Thr1541Ile) rs771367972 0.00004
NM_001371986.1(UNC80):c.4807A>C (p.Thr1603Pro) rs1023477727 0.00004
NM_001371986.1(UNC80):c.496T>C (p.Ser166Pro) rs1003845505 0.00004
NM_001371986.1(UNC80):c.5617C>T (p.Arg1873Cys) rs934038171 0.00004
NM_001371986.1(UNC80):c.5653A>T (p.Ser1885Cys) rs79819256 0.00004
NM_001371986.1(UNC80):c.5860A>G (p.Thr1954Ala) rs979654081 0.00004
NM_001371986.1(UNC80):c.6428T>C (p.Met2143Thr) rs751559981 0.00004
NM_001371986.1(UNC80):c.6647-10G>A rs1020285025 0.00004
NM_001371986.1(UNC80):c.673G>A (p.Gly225Arg) rs774262237 0.00004
NM_001371986.1(UNC80):c.6750C>T (p.Asp2250=) rs377594006 0.00004
NM_001371986.1(UNC80):c.6772G>A (p.Val2258Ile) rs1161523752 0.00004
NM_001371986.1(UNC80):c.6780C>T (p.Asn2260=) rs533329987 0.00004
NM_001371986.1(UNC80):c.724+6T>G rs201376710 0.00004
NM_001371986.1(UNC80):c.7416G>A (p.Thr2472=) rs1041157077 0.00004
NM_001371986.1(UNC80):c.7551-17G>C rs1445189573 0.00004
NM_001371986.1(UNC80):c.7768A>G (p.Ile2590Val) rs915501062 0.00004
NM_001371986.1(UNC80):c.7805+11C>T rs951383561 0.00004
NM_001371986.1(UNC80):c.7937C>T (p.Pro2646Leu) rs1041120386 0.00004
NM_001371986.1(UNC80):c.8306A>G (p.Asn2769Ser) rs749301296 0.00004
NM_001371986.1(UNC80):c.8343C>T (p.Leu2781=) rs563369707 0.00004
NM_001371986.1(UNC80):c.8547G>A (p.Arg2849=) rs968262406 0.00004
NM_001371986.1(UNC80):c.8564C>A (p.Ser2855Tyr) rs1381093816 0.00004
NM_001371986.1(UNC80):c.8816G>A (p.Arg2939Gln) rs376313479 0.00004
NM_001371986.1(UNC80):c.8824A>G (p.Ile2942Val) rs545874590 0.00004
NM_001371986.1(UNC80):c.8919G>A (p.Glu2973=) rs903334602 0.00004
NM_001371986.1(UNC80):c.8959A>G (p.Ile2987Val) rs376032195 0.00004
NM_001371986.1(UNC80):c.9095G>A (p.Arg3032Gln) rs952112150 0.00004
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr) rs1001497433 0.00004
NM_001371986.1(UNC80):c.9214A>G (p.Met3072Val) rs1032613518 0.00004
NM_001371986.1(UNC80):c.9432G>C (p.Gln3144His) rs760871771 0.00004
NM_001371986.1(UNC80):c.9597A>G (p.Leu3199=) rs370386829 0.00004
NM_001371986.1(UNC80):c.959C>T (p.Pro320Leu) rs1443827866 0.00004
NM_001371986.1(UNC80):c.9739_9741del (p.Lys3247del) rs796199021 0.00004
NM_001371986.1(UNC80):c.9804C>T (p.Asp3268=) rs372436091 0.00004
NM_001371986.1(UNC80):c.9867T>A (p.His3289Gln) rs201312129 0.00004
NM_001371986.1(UNC80):c.1003C>T (p.Leu335=) rs185114233 0.00003
NM_001371986.1(UNC80):c.1713C>T (p.Thr571=) rs899080631 0.00003
NM_001371986.1(UNC80):c.1938C>T (p.His646=) rs1016582597 0.00003
NM_001371986.1(UNC80):c.2084A>G (p.Asn695Ser) rs960869354 0.00003
NM_001371986.1(UNC80):c.2608A>G (p.Met870Val) rs1257866838 0.00003
NM_001371986.1(UNC80):c.2816A>G (p.Lys939Arg) rs1047456240 0.00003
NM_001371986.1(UNC80):c.2942+10T>C rs770735136 0.00003
NM_001371986.1(UNC80):c.2950G>A (p.Ala984Thr) rs377490108 0.00003
NM_001371986.1(UNC80):c.3042C>T (p.His1014=) rs572393115 0.00003
NM_001371986.1(UNC80):c.3199C>T (p.Arg1067Cys) rs1345335772 0.00003
NM_001371986.1(UNC80):c.397G>A (p.Gly133Arg) rs759136302 0.00003
NM_001371986.1(UNC80):c.448C>A (p.His150Asn) rs201833017 0.00003
NM_001371986.1(UNC80):c.4891-12A>G rs911343804 0.00003
NM_001371986.1(UNC80):c.5397C>A (p.Ile1799=) rs761133552 0.00003
NM_001371986.1(UNC80):c.5650G>A (p.Val1884Ile) rs377263179 0.00003
NM_001371986.1(UNC80):c.5687C>T (p.Thr1896Met) rs1223556541 0.00003
NM_001371986.1(UNC80):c.579del (p.Leu195fs) rs749223874 0.00003
NM_001371986.1(UNC80):c.5953G>A (p.Asp1985Asn) rs1427924189 0.00003
NM_001371986.1(UNC80):c.5994+7T>C rs537933396 0.00003
NM_001371986.1(UNC80):c.6060C>G (p.Thr2020=) rs933328495 0.00003
NM_001371986.1(UNC80):c.6363+12G>T rs772233116 0.00003
NM_001371986.1(UNC80):c.6801G>A (p.Pro2267=) rs769944657 0.00003
NM_001371986.1(UNC80):c.6850G>A (p.Ala2284Thr) rs570027229 0.00003
NM_001371986.1(UNC80):c.6949C>T (p.Arg2317Cys) rs771687535 0.00003
NM_001371986.1(UNC80):c.6956C>T (p.Ala2319Val) rs961768643 0.00003
NM_001371986.1(UNC80):c.7042G>C (p.Glu2348Gln) rs958429913 0.00003
NM_001371986.1(UNC80):c.7130C>A (p.Thr2377Asn) rs758980589 0.00003
NM_001371986.1(UNC80):c.7216A>C (p.Thr2406Pro) rs1429515336 0.00003
NM_001371986.1(UNC80):c.7413G>A (p.Ala2471=) rs371393316 0.00003
NM_001371986.1(UNC80):c.7457+18A>C rs904769249 0.00003
NM_001371986.1(UNC80):c.7525A>G (p.Thr2509Ala) rs1012948838 0.00003
NM_001371986.1(UNC80):c.7587-17C>T rs1259075417 0.00003
NM_001371986.1(UNC80):c.7777G>A (p.Glu2593Lys) rs1329270840 0.00003
NM_001371986.1(UNC80):c.7871G>A (p.Arg2624His) rs777602239 0.00003
NM_001371986.1(UNC80):c.8006+17G>A rs956915655 0.00003
NM_001371986.1(UNC80):c.8014G>C (p.Val2672Leu) rs370951034 0.00003
NM_001371986.1(UNC80):c.8205A>G (p.Pro2735=) rs752241389 0.00003
NM_001371986.1(UNC80):c.8904A>G (p.Leu2968=) rs1473346534 0.00003
NM_001371986.1(UNC80):c.8939-10C>T rs781337538 0.00003
NM_001371986.1(UNC80):c.8967C>T (p.Thr2989=) rs774227146 0.00003
NM_001371986.1(UNC80):c.897G>A (p.Leu299=) rs764048627 0.00003
NM_001371986.1(UNC80):c.9234G>A (p.Glu3078=) rs764667031 0.00003
NM_001371986.1(UNC80):c.9369G>A (p.Pro3123=) rs1487132681 0.00003
NM_001371986.1(UNC80):c.938+5C>T rs780616201 0.00003
NM_001371986.1(UNC80):c.9396+20G>A rs763389046 0.00003
NM_001371986.1(UNC80):c.9448C>T (p.Arg3150Cys) rs868379708 0.00003
NM_001371986.1(UNC80):c.9449G>A (p.Arg3150His) rs557777623 0.00003
NM_001371986.1(UNC80):c.9510G>A (p.Ala3170=) rs756716727 0.00003
NM_001371986.1(UNC80):c.9517A>G (p.Lys3173Glu) rs1399770366 0.00003
NM_001371986.1(UNC80):c.960G>A (p.Pro320=) rs989128759 0.00003
NM_001371986.1(UNC80):c.9802G>C (p.Asp3268His) rs925960054 0.00003
NM_001371986.1(UNC80):c.9866A>G (p.His3289Arg) rs1056287236 0.00003
NM_001371986.1(UNC80):c.1006C>T (p.Arg336Cys) rs760417182 0.00002
NM_001371986.1(UNC80):c.1173C>T (p.Pro391=) rs1315014250 0.00002
NM_001371986.1(UNC80):c.1336-18C>T rs778809258 0.00002
NM_001371986.1(UNC80):c.1464G>A (p.Thr488=) rs1241919062 0.00002
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598 0.00002
NM_001371986.1(UNC80):c.1564C>T (p.Arg522Trp) rs779351755 0.00002
NM_001371986.1(UNC80):c.156G>A (p.Val52=) rs371036835 0.00002
NM_001371986.1(UNC80):c.1755C>T (p.Asn585=) rs769254255 0.00002
NM_001371986.1(UNC80):c.1796T>C (p.Leu599Pro) rs1435848024 0.00002
NM_001371986.1(UNC80):c.1817C>T (p.Pro606Leu) rs774668513 0.00002
NM_001371986.1(UNC80):c.2023G>A (p.Val675Met) rs769901732 0.00002
NM_001371986.1(UNC80):c.2260G>A (p.Gly754Arg) rs750342957 0.00002
NM_001371986.1(UNC80):c.2331+9G>A rs370746956 0.00002
NM_001371986.1(UNC80):c.2572G>A (p.Val858Ile) rs1028743724 0.00002
NM_001371986.1(UNC80):c.2577G>T (p.Val859=) rs904629599 0.00002
NM_001371986.1(UNC80):c.2627-9G>A rs775663063 0.00002
NM_001371986.1(UNC80):c.3088C>T (p.Arg1030Cys) rs1322289311 0.00002
NM_001371986.1(UNC80):c.3250+15G>T rs987980770 0.00002
NM_001371986.1(UNC80):c.3550C>T (p.Arg1184Cys) rs757342671 0.00002
NM_001371986.1(UNC80):c.3841-13C>G rs1302238080 0.00002
NM_001371986.1(UNC80):c.3850G>A (p.Val1284Ile) rs1012210225 0.00002
NM_001371986.1(UNC80):c.386A>G (p.Asn129Ser) rs760726769 0.00002
NM_001371986.1(UNC80):c.4209C>T (p.Asp1403=) rs1347271163 0.00002
NM_001371986.1(UNC80):c.510A>C (p.Glu170Asp) rs201038761 0.00002
NM_001371986.1(UNC80):c.5593A>G (p.Thr1865Ala) rs574691458 0.00002
NM_001371986.1(UNC80):c.5620C>T (p.Arg1874Cys) rs948288286 0.00002
NM_001371986.1(UNC80):c.5641C>T (p.Arg1881Cys) rs764903136 0.00002
NM_001371986.1(UNC80):c.5788C>T (p.Arg1930Trp) rs143027081 0.00002
NM_001371986.1(UNC80):c.5840G>A (p.Cys1947Tyr) rs1236080636 0.00002
NM_001371986.1(UNC80):c.6373C>T (p.Arg2125Ter) rs940057866 0.00002
NM_001371986.1(UNC80):c.6565C>T (p.Leu2189Phe) rs1388695531 0.00002
NM_001371986.1(UNC80):c.6805G>A (p.Asp2269Asn) rs886041094 0.00002
NM_001371986.1(UNC80):c.6977A>G (p.Gln2326Arg) rs932774162 0.00002
NM_001371986.1(UNC80):c.7098G>C (p.Leu2366=) rs927732700 0.00002
NM_001371986.1(UNC80):c.7112A>T (p.Gln2371Leu) rs776052035 0.00002
NM_001371986.1(UNC80):c.725-10G>A rs752103141 0.00002
NM_001371986.1(UNC80):c.725-11C>T rs778945720 0.00002
NM_001371986.1(UNC80):c.7272C>T (p.Pro2424=) rs776605656 0.00002
NM_001371986.1(UNC80):c.7287-9C>T rs919833457 0.00002
NM_001371986.1(UNC80):c.7550+13G>A rs762235117 0.00002
NM_001371986.1(UNC80):c.7704G>A (p.Glu2568=) rs1052686296 0.00002
NM_001371986.1(UNC80):c.7870C>T (p.Arg2624Cys) rs1006036798 0.00002
NM_001371986.1(UNC80):c.7882C>T (p.Arg2628Cys) rs200110572 0.00002
NM_001371986.1(UNC80):c.8006+14C>T rs903778547 0.00002
NM_001371986.1(UNC80):c.8006+8T>C rs201106234 0.00002
NM_001371986.1(UNC80):c.8604C>T (p.Leu2868=) rs913464532 0.00002
NM_001371986.1(UNC80):c.8877G>C (p.Ser2959=) rs188436293 0.00002
NM_001371986.1(UNC80):c.8938+17G>A rs919636427 0.00002
NM_001371986.1(UNC80):c.8939-11G>A rs369199451 0.00002
NM_001371986.1(UNC80):c.894T>C (p.Ser298=) rs762916531 0.00002
NM_001371986.1(UNC80):c.9032C>T (p.Thr3011Met) rs1475238797 0.00002
NM_001371986.1(UNC80):c.9397-13C>G rs764265709 0.00002
NM_001371986.1(UNC80):c.9433A>G (p.Thr3145Ala) rs766554337 0.00002
NM_001371986.1(UNC80):c.9509C>T (p.Ala3170Val) rs866658624 0.00002
NM_001371986.1(UNC80):c.9643G>A (p.Glu3215Lys) rs982121969 0.00002
NM_001371986.1(UNC80):c.9666C>T (p.Pro3222=) rs1486687667 0.00002
NM_001371986.1(UNC80):c.994G>A (p.Val332Ile) rs1005045171 0.00002
NM_001371986.1(UNC80):c.1064A>G (p.Tyr355Cys) rs779499410 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.1200+13C>T rs1259424707 0.00001
NM_001371986.1(UNC80):c.1210A>G (p.Met404Val) rs759961895 0.00001
NM_001371986.1(UNC80):c.1255T>A (p.Ser419Thr) rs991988355 0.00001
NM_001371986.1(UNC80):c.1321A>T (p.Asn441Tyr) rs953754278 0.00001
NM_001371986.1(UNC80):c.1418G>A (p.Gly473Glu) rs1275252527 0.00001
NM_001371986.1(UNC80):c.1438G>A (p.Glu480Lys) rs1299781997 0.00001
NM_001371986.1(UNC80):c.1455G>A (p.Val485=) rs867003731 0.00001
NM_001371986.1(UNC80):c.1463C>T (p.Thr488Met) rs1222726962 0.00001
NM_001371986.1(UNC80):c.1465C>T (p.Arg489Cys) rs773432779 0.00001
NM_001371986.1(UNC80):c.1552+7A>G rs756290857 0.00001
NM_001371986.1(UNC80):c.1553-16C>G rs1332173071 0.00001
NM_001371986.1(UNC80):c.1568G>A (p.Arg523Gln) rs1199212965 0.00001
NM_001371986.1(UNC80):c.1571G>C (p.Gly524Ala) rs1281431858 0.00001
NM_001371986.1(UNC80):c.1608C>T (p.Ser536=) rs573958103 0.00001
NM_001371986.1(UNC80):c.1611C>G (p.Ala537=) rs1269787901 0.00001
NM_001371986.1(UNC80):c.1756G>A (p.Val586Ile) rs1367491142 0.00001
NM_001371986.1(UNC80):c.1761C>T (p.Gly587=) rs890269898 0.00001
NM_001371986.1(UNC80):c.1799G>A (p.Cys600Tyr) rs1312119994 0.00001
NM_001371986.1(UNC80):c.1843T>C (p.Cys615Arg) rs772512893 0.00001
NM_001371986.1(UNC80):c.1851C>T (p.Asn617=) rs958545444 0.00001
NM_001371986.1(UNC80):c.1859G>A (p.Arg620Gln) rs1302827621 0.00001
NM_001371986.1(UNC80):c.1904C>T (p.Thr635Ile) rs759633295 0.00001
NM_001371986.1(UNC80):c.1962+3A>G rs1310377310 0.00001
NM_001371986.1(UNC80):c.2012G>A (p.Arg671His) rs990004372 0.00001
NM_001371986.1(UNC80):c.2022C>T (p.Asp674=) rs1017533818 0.00001
NM_001371986.1(UNC80):c.2052T>G (p.Leu684=) rs748448272 0.00001
NM_001371986.1(UNC80):c.2091G>A (p.Lys697=) rs1326422721 0.00001
NM_001371986.1(UNC80):c.2176A>G (p.Thr726Ala) rs1416240323 0.00001
NM_001371986.1(UNC80):c.2213G>A (p.Gly738Glu) rs867486666 0.00001
NM_001371986.1(UNC80):c.2235A>G (p.Gly745=) rs1234228593 0.00001
NM_001371986.1(UNC80):c.2281G>A (p.Gly761Arg) rs930093689 0.00001
NM_001371986.1(UNC80):c.2331G>A (p.Lys777=) rs967602474 0.00001
NM_001371986.1(UNC80):c.2336A>C (p.Glu779Ala) rs1277176687 0.00001
NM_001371986.1(UNC80):c.2388A>G (p.Ile796Met) rs893918787 0.00001
NM_001371986.1(UNC80):c.2395T>G (p.Ser799Ala) rs921658754 0.00001
NM_001371986.1(UNC80):c.2449C>T (p.Arg817Cys) rs1002766231 0.00001
NM_001371986.1(UNC80):c.2471G>A (p.Arg824Gln) rs1468887382 0.00001
NM_001371986.1(UNC80):c.250C>T (p.His84Tyr) rs748631451 0.00001
NM_001371986.1(UNC80):c.2518A>G (p.Met840Val) rs764764040 0.00001
NM_001371986.1(UNC80):c.2527C>T (p.Arg843Ter) rs74517001 0.00001
NM_001371986.1(UNC80):c.2528G>A (p.Arg843Gln) rs1157578030 0.00001
NM_001371986.1(UNC80):c.256C>T (p.Leu86Phe) rs1488820719 0.00001
NM_001371986.1(UNC80):c.2595G>A (p.Leu865=) rs960309359 0.00001
NM_001371986.1(UNC80):c.2667C>A (p.Asn889Lys) rs768931804 0.00001
NM_001371986.1(UNC80):c.26G>C (p.Gly9Ala) rs1256509145 0.00001
NM_001371986.1(UNC80):c.2707G>A (p.Ala903Thr) rs549483297 0.00001
NM_001371986.1(UNC80):c.2710A>G (p.Met904Val) rs1303467359 0.00001
NM_001371986.1(UNC80):c.2736C>T (p.Cys912=) rs1271766753 0.00001
NM_001371986.1(UNC80):c.2775+18C>T rs1387271947 0.00001
NM_001371986.1(UNC80):c.2776-3C>T rs1355480465 0.00001
NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter) rs538956139 0.00001
NM_001371986.1(UNC80):c.2909A>G (p.Asn970Ser) rs1468505788 0.00001
NM_001371986.1(UNC80):c.2929G>A (p.Ala977Thr) rs1433632762 0.00001
NM_001371986.1(UNC80):c.2931A>G (p.Ala977=) rs768913378 0.00001
NM_001371986.1(UNC80):c.2933G>A (p.Gly978Asp) rs960864973 0.00001
NM_001371986.1(UNC80):c.2942+8G>A rs1360421618 0.00001
NM_001371986.1(UNC80):c.2943-10A>T rs1056704840 0.00001
NM_001371986.1(UNC80):c.298+14A>G rs760040137 0.00001
NM_001371986.1(UNC80):c.299-10T>C rs371399930 0.00001
NM_001371986.1(UNC80):c.3041+11T>C rs986452418 0.00001
NM_001371986.1(UNC80):c.3081T>C (p.Asp1027=) rs947070646 0.00001
NM_001371986.1(UNC80):c.3089G>A (p.Arg1030His) rs994534779 0.00001
NM_001371986.1(UNC80):c.3168C>A (p.Ala1056=) rs1314458388 0.00001
NM_001371986.1(UNC80):c.3193C>T (p.Arg1065Cys) rs1240253263 0.00001
NM_001371986.1(UNC80):c.3206G>A (p.Arg1069Gln) rs1253303904 0.00001
NM_001371986.1(UNC80):c.3211C>T (p.Arg1071Cys) rs2081576671 0.00001
NM_001371986.1(UNC80):c.3283C>T (p.Leu1095=) rs1174664470 0.00001
NM_001371986.1(UNC80):c.3285G>A (p.Leu1095=) rs992776591 0.00001
NM_001371986.1(UNC80):c.3366C>T (p.Phe1122=) rs1382929430 0.00001
NM_001371986.1(UNC80):c.3400G>A (p.Gly1134Arg) rs1366323709 0.00001
NM_001371986.1(UNC80):c.3405T>A (p.Ser1135Arg) rs931894421 0.00001
NM_001371986.1(UNC80):c.3485C>T (p.Pro1162Leu) rs2082375119 0.00001
NM_001371986.1(UNC80):c.3493G>C (p.Asp1165His) rs181768336 0.00001
NM_001371986.1(UNC80):c.3627+15G>T rs2082381764 0.00001
NM_001371986.1(UNC80):c.373C>A (p.Gln125Lys) rs1420694982 0.00001
NM_001371986.1(UNC80):c.375G>A (p.Gln125=) rs771908187 0.00001
NM_001371986.1(UNC80):c.37G>A (p.Asp13Asn) rs2076605926 0.00001
NM_001371986.1(UNC80):c.3916G>A (p.Asp1306Asn) rs899960452 0.00001
NM_001371986.1(UNC80):c.400G>A (p.Gly134Ser) rs764575721 0.00001
NM_001371986.1(UNC80):c.4012G>T (p.Ala1338Ser) rs779770255 0.00001
NM_001371986.1(UNC80):c.4028C>T (p.Ala1343Val) rs1398699736 0.00001
NM_001371986.1(UNC80):c.4038T>G (p.Leu1346=) rs947961409 0.00001
NM_001371986.1(UNC80):c.4056C>T (p.Thr1352=) rs1471854050 0.00001
NM_001371986.1(UNC80):c.4063C>T (p.Arg1355Ter) rs750226213 0.00001
NM_001371986.1(UNC80):c.4066G>A (p.Glu1356Lys) rs2085243122 0.00001
NM_001371986.1(UNC80):c.4086C>T (p.Pro1362=) rs1468773650 0.00001
NM_001371986.1(UNC80):c.4094G>A (p.Arg1365His) rs1306650540 0.00001
NM_001371986.1(UNC80):c.4110+1G>C rs371905161 0.00001
NM_001371986.1(UNC80):c.4111-12C>T rs1374840951 0.00001
NM_001371986.1(UNC80):c.4124G>T (p.Cys1375Phe) rs1444046937 0.00001
NM_001371986.1(UNC80):c.4161A>T (p.Arg1387Ser) rs959056070 0.00001
NM_001371986.1(UNC80):c.4276+7A>G rs929896106 0.00001
NM_001371986.1(UNC80):c.4481-14T>C rs1026222699 0.00001
NM_001371986.1(UNC80):c.4508C>T (p.Pro1503Leu) rs1391759120 0.00001
NM_001371986.1(UNC80):c.4517A>T (p.Glu1506Val) rs774224142 0.00001
NM_001371986.1(UNC80):c.4547A>G (p.Glu1516Gly) rs1450556867 0.00001
NM_001371986.1(UNC80):c.4571C>T (p.Ser1524Leu) rs755493374 0.00001
NM_001371986.1(UNC80):c.4581T>C (p.His1527=) rs996946967 0.00001
NM_001371986.1(UNC80):c.4582-19del rs1256951180 0.00001
NM_001371986.1(UNC80):c.4633T>C (p.Tyr1545His) rs930778389 0.00001
NM_001371986.1(UNC80):c.4666C>T (p.Arg1556Cys) rs775881861 0.00001
NM_001371986.1(UNC80):c.4667G>A (p.Arg1556His) rs1158458544 0.00001
NM_001371986.1(UNC80):c.4678C>T (p.Arg1560Ter) rs940692104 0.00001
NM_001371986.1(UNC80):c.4699C>T (p.Leu1567=) rs953185981 0.00001
NM_001371986.1(UNC80):c.4704C>A (p.Leu1568=) rs372650028 0.00001
NM_001371986.1(UNC80):c.4767C>A (p.Gly1589=) rs1308154134 0.00001
NM_001371986.1(UNC80):c.4771A>G (p.Lys1591Glu) rs925932377 0.00001
NM_001371986.1(UNC80):c.4782+16T>C rs1269399941 0.00001
NM_001371986.1(UNC80):c.4846G>T (p.Glu1616Ter) rs1475433563 0.00001
NM_001371986.1(UNC80):c.4890+3A>G rs1389978988 0.00001
NM_001371986.1(UNC80):c.5000G>C (p.Ser1667Thr) rs1037527931 0.00001
NM_001371986.1(UNC80):c.505G>A (p.Glu169Lys) rs769494103 0.00001
NM_001371986.1(UNC80):c.520C>T (p.Arg174Ter) rs751913925 0.00001
NM_001371986.1(UNC80):c.5371C>T (p.Arg1791Cys) rs1201504693 0.00001
NM_001371986.1(UNC80):c.5372G>A (p.Arg1791His) rs1214929900 0.00001
NM_001371986.1(UNC80):c.5467C>T (p.Pro1823Ser) rs1023697059 0.00001
NM_001371986.1(UNC80):c.5477A>G (p.Gln1826Arg) rs1308283554 0.00001
NM_001371986.1(UNC80):c.54C>T (p.Ile18=) rs1326613587 0.00001
NM_001371986.1(UNC80):c.5504C>T (p.Thr1835Met) rs752809115 0.00001
NM_001371986.1(UNC80):c.5519C>T (p.Pro1840Leu) rs1029859784 0.00001
NM_001371986.1(UNC80):c.5591G>A (p.Ser1864Asn) rs776350325 0.00001
NM_001371986.1(UNC80):c.5616C>T (p.Phe1872=) rs2090100749 0.00001
NM_001371986.1(UNC80):c.5648C>T (p.Ala1883Val) rs1009754672 0.00001
NM_001371986.1(UNC80):c.5688G>A (p.Thr1896=) rs1056853044 0.00001
NM_001371986.1(UNC80):c.5745A>G (p.Ala1915=) rs1161484838 0.00001
NM_001371986.1(UNC80):c.5842C>G (p.Leu1948Val) rs2090719780 0.00001
NM_001371986.1(UNC80):c.5861C>T (p.Thr1954Met) rs940559299 0.00001
NM_001371986.1(UNC80):c.5959C>T (p.Pro1987Ser) rs553131169 0.00001
NM_001371986.1(UNC80):c.5972C>G (p.Ser1991Cys) rs1377820770 0.00001
NM_001371986.1(UNC80):c.5995-2A>G rs755756538 0.00001
NM_001371986.1(UNC80):c.5995-3T>C rs1430836374 0.00001
NM_001371986.1(UNC80):c.5995-4C>G rs938374257 0.00001
NM_001371986.1(UNC80):c.5996T>C (p.Val1999Ala) rs984602297 0.00001
NM_001371986.1(UNC80):c.601-7C>G rs765430281 0.00001
NM_001371986.1(UNC80):c.601-9C>T rs1394159439 0.00001
NM_001371986.1(UNC80):c.6027C>T (p.Pro2009=) rs746557418 0.00001
NM_001371986.1(UNC80):c.6030C>T (p.Cys2010=) rs572684498 0.00001
NM_001371986.1(UNC80):c.6179-4G>A rs1222073439 0.00001
NM_001371986.1(UNC80):c.6179-8A>G rs1284621809 0.00001
NM_001371986.1(UNC80):c.6213G>A (p.Glu2071=) rs1030971948 0.00001
NM_001371986.1(UNC80):c.624G>T (p.Leu208=) rs185665095 0.00001
NM_001371986.1(UNC80):c.6250A>T (p.Thr2084Ser) rs956787391 0.00001
NM_001371986.1(UNC80):c.6266T>C (p.Leu2089Pro) rs1017052801 0.00001
NM_001371986.1(UNC80):c.6293A>G (p.Asn2098Ser) rs2091281715 0.00001
NM_001371986.1(UNC80):c.6298C>T (p.Pro2100Ser) rs1427545209 0.00001
NM_001371986.1(UNC80):c.6313A>G (p.Thr2105Ala) rs949514083 0.00001
NM_001371986.1(UNC80):c.6363+17G>C rs1559359137 0.00001
NM_001371986.1(UNC80):c.6381T>G (p.Ile2127Met) rs1209611309 0.00001
NM_001371986.1(UNC80):c.6471C>T (p.Phe2157=) rs1235705251 0.00001
NM_001371986.1(UNC80):c.6491T>C (p.Val2164Ala) rs1204306509 0.00001
NM_001371986.1(UNC80):c.6501G>A (p.Val2167=) rs1310322700 0.00001
NM_001371986.1(UNC80):c.651C>T (p.Pro217=) rs772407405 0.00001
NM_001371986.1(UNC80):c.6546A>G (p.Lys2182=) rs1167155849 0.00001
NM_001371986.1(UNC80):c.6552C>G (p.Ser2184=) rs1474052145 0.00001
NM_001371986.1(UNC80):c.6582C>T (p.Leu2194=) rs1227373860 0.00001
NM_001371986.1(UNC80):c.6585C>A (p.Arg2195=) rs1272289688 0.00001
NM_001371986.1(UNC80):c.6601C>T (p.Arg2201Cys) rs2091486329 0.00001
NM_001371986.1(UNC80):c.6614A>T (p.Asp2205Val) rs2091487477 0.00001
NM_001371986.1(UNC80):c.6670G>A (p.Asp2224Asn) rs1363311880 0.00001
NM_001371986.1(UNC80):c.6699G>A (p.Gln2233=) rs1559367063 0.00001
NM_001371986.1(UNC80):c.6705G>A (p.Leu2235=) rs542435861 0.00001
NM_001371986.1(UNC80):c.6770A>G (p.Asn2257Ser) rs545275856 0.00001
NM_001371986.1(UNC80):c.6800C>T (p.Pro2267Leu) rs751655179 0.00001
NM_001371986.1(UNC80):c.6851C>T (p.Ala2284Val) rs760142924 0.00001
NM_001371986.1(UNC80):c.6852G>A (p.Ala2284=) rs370522501 0.00001
NM_001371986.1(UNC80):c.6856C>A (p.His2286Asn) rs1020253955 0.00001
NM_001371986.1(UNC80):c.6858C>A (p.His2286Gln) rs1252633870 0.00001
NM_001371986.1(UNC80):c.6883G>A (p.Gly2295Ser) rs1415933586 0.00001
NM_001371986.1(UNC80):c.690C>T (p.Thr230=) rs199927612 0.00001
NM_001371986.1(UNC80):c.6950G>A (p.Arg2317His) rs1292203908 0.00001
NM_001371986.1(UNC80):c.6973C>T (p.His2325Tyr) rs1030090807 0.00001
NM_001371986.1(UNC80):c.7050+10C>T rs781676184 0.00001
NM_001371986.1(UNC80):c.7052A>G (p.Asp2351Gly) rs945037634 0.00001
NM_001371986.1(UNC80):c.706A>C (p.Ile236Leu) rs780070251 0.00001
NM_001371986.1(UNC80):c.70A>G (p.Thr24Ala) rs1402776898 0.00001
NM_001371986.1(UNC80):c.7134C>T (p.Thr2378=) rs1048714718 0.00001
NM_001371986.1(UNC80):c.7135G>A (p.Asp2379Asn) rs1352460130 0.00001
NM_001371986.1(UNC80):c.7161C>G (p.Val2387=) rs575682764 0.00001
NM_001371986.1(UNC80):c.7190-17A>G rs1051385636 0.00001
NM_001371986.1(UNC80):c.720T>C (p.Ile240=) rs1196327199 0.00001
NM_001371986.1(UNC80):c.723A>G (p.Thr241=) rs747807710 0.00001
NM_001371986.1(UNC80):c.724+20A>G rs772810441 0.00001
NM_001371986.1(UNC80):c.7287-1G>A rs1455910574 0.00001
NM_001371986.1(UNC80):c.7368A>G (p.Thr2456=) rs908179337 0.00001
NM_001371986.1(UNC80):c.7394C>T (p.Ala2465Val) rs866318243 0.00001
NM_001371986.1(UNC80):c.7407T>C (p.Ala2469=) rs754061565 0.00001
NM_001371986.1(UNC80):c.7458-15C>T rs537080739 0.00001
NM_001371986.1(UNC80):c.7458-7G>A rs1407661638 0.00001
NM_001371986.1(UNC80):c.7532C>T (p.Ser2511Leu) rs368581465 0.00001
NM_001371986.1(UNC80):c.7540G>T (p.Val2514Leu) rs190052898 0.00001
NM_001371986.1(UNC80):c.7550+6T>G rs1234571051 0.00001
NM_001371986.1(UNC80):c.7574T>C (p.Leu2525Pro) rs999246316 0.00001
NM_001371986.1(UNC80):c.7713G>A (p.Lys2571=) rs2092526513 0.00001
NM_001371986.1(UNC80):c.7723C>T (p.Pro2575Ser) rs1180447213 0.00001
NM_001371986.1(UNC80):c.7734G>A (p.Lys2578=) rs1247904765 0.00001
NM_001371986.1(UNC80):c.7764G>T (p.Arg2588=) rs537702219 0.00001
NM_001371986.1(UNC80):c.7806-7A>T rs758327059 0.00001
NM_001371986.1(UNC80):c.7888A>G (p.Ile2630Val) rs190106609 0.00001
NM_001371986.1(UNC80):c.7906A>G (p.Ile2636Val) rs1316656729 0.00001
NM_001371986.1(UNC80):c.7921G>T (p.Ala2641Ser) rs1214117176 0.00001
NM_001371986.1(UNC80):c.799-16T>C rs929844100 0.00001
NM_001371986.1(UNC80):c.8002T>C (p.Leu2668=) rs746841083 0.00001
NM_001371986.1(UNC80):c.8006+15G>A rs754985794 0.00001
NM_001371986.1(UNC80):c.8067G>C (p.Gln2689His) rs375090737 0.00001
NM_001371986.1(UNC80):c.8077A>G (p.Ile2693Val) rs913400163 0.00001
NM_001371986.1(UNC80):c.807G>A (p.Gln269=) rs1202327884 0.00001
NM_001371986.1(UNC80):c.8287G>A (p.Val2763Met) rs1280225364 0.00001
NM_001371986.1(UNC80):c.831T>C (p.Ser277=) rs1198134364 0.00001
NM_001371986.1(UNC80):c.8412G>A (p.Gln2804=) rs1257303897 0.00001
NM_001371986.1(UNC80):c.8451G>A (p.Pro2817=) rs1027593125 0.00001
NM_001371986.1(UNC80):c.8484C>T (p.Phe2828=) rs1430089024 0.00001
NM_001371986.1(UNC80):c.8504C>G (p.Ala2835Gly) rs973038739 0.00001
NM_001371986.1(UNC80):c.8523G>A (p.Gly2841=) rs1004552911 0.00001
NM_001371986.1(UNC80):c.8535A>G (p.Lys2845=) rs568019339 0.00001
NM_001371986.1(UNC80):c.8542C>T (p.Arg2848Cys) rs1171092863 0.00001
NM_001371986.1(UNC80):c.8565C>A (p.Ser2855=) rs1292896858 0.00001
NM_001371986.1(UNC80):c.8587+6T>C rs1266482871 0.00001
NM_001371986.1(UNC80):c.8587+8C>A rs773635152 0.00001
NM_001371986.1(UNC80):c.8602C>G (p.Leu2868Val) rs1227642683 0.00001
NM_001371986.1(UNC80):c.8718C>T (p.Ile2906=) rs779342576 0.00001
NM_001371986.1(UNC80):c.8723G>A (p.Arg2908Gln) rs1255262851 0.00001
NM_001371986.1(UNC80):c.8727C>T (p.Thr2909=) rs894969061 0.00001
NM_001371986.1(UNC80):c.872G>A (p.Arg291Gln) rs146565598 0.00001
NM_001371986.1(UNC80):c.8772+9T>C rs1196516915 0.00001
NM_001371986.1(UNC80):c.8773-18G>A rs912453284 0.00001
NM_001371986.1(UNC80):c.8797C>A (p.His2933Asn) rs775298626 0.00001
NM_001371986.1(UNC80):c.8811C>T (p.Ser2937=) rs1195337190 0.00001
NM_001371986.1(UNC80):c.8843G>A (p.Arg2948Gln) rs535321786 0.00001
NM_001371986.1(UNC80):c.8854C>G (p.Pro2952Ala) rs1025598097 0.00001
NM_001371986.1(UNC80):c.8876C>T (p.Ser2959Leu) rs760250857 0.00001
NM_001371986.1(UNC80):c.8880C>T (p.Leu2960=) rs1239625140 0.00001
NM_001371986.1(UNC80):c.8902C>T (p.Leu2968=) rs1196948853 0.00001
NM_001371986.1(UNC80):c.8938+11A>C rs755361395 0.00001
NM_001371986.1(UNC80):c.8939-12C>T rs747100273 0.00001
NM_001371986.1(UNC80):c.8993G>A (p.Arg2998His) rs2093071670 0.00001
NM_001371986.1(UNC80):c.9026C>T (p.Thr3009Met) rs757257649 0.00001
NM_001371986.1(UNC80):c.902C>T (p.Ser301Phe) rs564175384 0.00001
NM_001371986.1(UNC80):c.9030C>T (p.Gly3010=) rs1394788215 0.00001
NM_001371986.1(UNC80):c.9033G>A (p.Thr3011=) rs375310838 0.00001
NM_001371986.1(UNC80):c.9038C>T (p.Thr3013Ile) rs1397804759 0.00001
NM_001371986.1(UNC80):c.9073G>C (p.Ala3025Pro) rs1331302523 0.00001
NM_001371986.1(UNC80):c.9074C>T (p.Ala3025Val) rs983994189 0.00001
NM_001371986.1(UNC80):c.9081G>A (p.Gln3027=) rs1468587582 0.00001
NM_001371986.1(UNC80):c.9094C>T (p.Arg3032Trp) rs1265367593 0.00001
NM_001371986.1(UNC80):c.911C>T (p.Ser304Phe) rs868686380 0.00001
NM_001371986.1(UNC80):c.9126T>C (p.Ser3042=) rs1171416398 0.00001
NM_001371986.1(UNC80):c.9219T>G (p.Ser3073=) rs775984318 0.00001
NM_001371986.1(UNC80):c.9257+9C>T rs752162072 0.00001
NM_001371986.1(UNC80):c.9258-11C>A rs750525596 0.00001
NM_001371986.1(UNC80):c.9258-8T>A rs1395591298 0.00001
NM_001371986.1(UNC80):c.9297C>T (p.Ala3099=) rs879405779 0.00001
NM_001371986.1(UNC80):c.9314+12A>G rs897898538 0.00001
NM_001371986.1(UNC80):c.9314+17A>G rs1317014040 0.00001
NM_001371986.1(UNC80):c.9339T>A (p.Pro3113=) rs2093404847 0.00001
NM_001371986.1(UNC80):c.9397-14C>G rs1445814413 0.00001
NM_001371986.1(UNC80):c.9403C>T (p.Arg3135Cys) rs1401772812 0.00001
NM_001371986.1(UNC80):c.9404G>T (p.Arg3135Leu) rs2093425631 0.00001
NM_001371986.1(UNC80):c.9414A>G (p.Leu3138=) rs2093425839 0.00001
NM_001371986.1(UNC80):c.9453A>G (p.Gln3151=) rs755213717 0.00001
NM_001371986.1(UNC80):c.9497C>T (p.Thr3166Met) rs529047309 0.00001
NM_001371986.1(UNC80):c.9509-15C>G rs1389330006 0.00001
NM_001371986.1(UNC80):c.9509-8A>G rs1384585896 0.00001
NM_001371986.1(UNC80):c.950T>C (p.Val317Ala) rs1328151749 0.00001
NM_001371986.1(UNC80):c.9520C>T (p.Arg3174Ter) rs1559456419 0.00001
NM_001371986.1(UNC80):c.9521G>T (p.Arg3174Leu) rs191830048 0.00001
NM_001371986.1(UNC80):c.9523T>C (p.Ser3175Pro) rs1160711073 0.00001
NM_001371986.1(UNC80):c.9616C>T (p.Pro3206Ser) rs914003045 0.00001
NM_001371986.1(UNC80):c.9667G>A (p.Ala3223Thr) rs200385752 0.00001
NM_001371986.1(UNC80):c.9702C>A (p.Pro3234=) rs937166714 0.00001
NM_001371986.1(UNC80):c.9728A>C (p.Glu3243Ala) rs1453037786 0.00001
NM_001371986.1(UNC80):c.973C>T (p.Arg325Cys) rs1346269725 0.00001
NM_001371986.1(UNC80):c.9745G>A (p.Glu3249Lys) rs1444642834 0.00001
NM_001371986.1(UNC80):c.9825C>T (p.Leu3275=) rs1355141014 0.00001
NM_001371986.1(UNC80):c.9897G>A (p.Pro3299=) rs1404826380 0.00001
NM_001371986.1(UNC80):c.9903A>C (p.Leu3301=) rs963283770 0.00001
NM_001371986.1(UNC80):c.9913T>C (p.Phe3305Leu) rs1425490698 0.00001
NM_001371986.1(UNC80):c.9944C>T (p.Thr3315Met) rs1312332517 0.00001
NC_000002.11:g.(?_210636797)_(210658603_?)del
NC_000002.11:g.(?_210636797)_(210658603_?)dup
NC_000002.11:g.(?_210737462)_(210737714_?)del
NC_000002.11:g.(?_210737462)_(210745838_?)del
NC_000002.11:g.(?_210777264)_(210777411_?)del
NC_000002.12:g.209818993_209818994del
NM_001371986.1(UNC80):c.-52_45dup (p.Arg16Ter) rs2153824303
NM_001371986.1(UNC80):c.1007G>A (p.Arg336His)
NM_001371986.1(UNC80):c.100T>C (p.Leu34=)
NM_001371986.1(UNC80):c.1012C>T (p.Leu338=)
NM_001371986.1(UNC80):c.1020_1021delinsTT (p.Gln340_Pro341delinsHisSer) rs2153827290
NM_001371986.1(UNC80):c.1022C>T (p.Pro341Leu)
NM_001371986.1(UNC80):c.1035G>C (p.Glu345Asp)
NM_001371986.1(UNC80):c.1059G>A (p.Met353Ile)
NM_001371986.1(UNC80):c.105G>A (p.Arg35=)
NM_001371986.1(UNC80):c.1063del (p.Tyr355fs) rs1553523425
NM_001371986.1(UNC80):c.1066C>T (p.Leu356=)
NM_001371986.1(UNC80):c.1069C>G (p.Gln357Glu) rs2153827294
NM_001371986.1(UNC80):c.106C>G (p.Pro36Ala) rs2153824389
NM_001371986.1(UNC80):c.1077G>A (p.Leu359=)
NM_001371986.1(UNC80):c.1078C>A (p.Arg360=)
NM_001371986.1(UNC80):c.1079G>A (p.Arg360Gln)
NM_001371986.1(UNC80):c.1079G>C (p.Arg360Pro) rs532329476
NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu) rs532329476
NM_001371986.1(UNC80):c.1085T>C (p.Met362Thr)
NM_001371986.1(UNC80):c.1086G>T (p.Met362Ile)
NM_001371986.1(UNC80):c.108C>A (p.Pro36=)
NM_001371986.1(UNC80):c.1090G>A (p.Glu364Lys)
NM_001371986.1(UNC80):c.1108C>T (p.Pro370Ser)
NM_001371986.1(UNC80):c.1113G>A (p.Pro371=)
NM_001371986.1(UNC80):c.1116G>A (p.Glu372=)
NM_001371986.1(UNC80):c.1119A>G (p.Pro373=)
NM_001371986.1(UNC80):c.1133T>C (p.Leu378Pro) rs2079531450
NM_001371986.1(UNC80):c.1136C>A (p.Pro379His) rs1227553927
NM_001371986.1(UNC80):c.1137C>T (p.Pro379=)
NM_001371986.1(UNC80):c.1141C>T (p.Pro381Ser)
NM_001371986.1(UNC80):c.1148G>C (p.Ser383Thr)
NM_001371986.1(UNC80):c.1152C>T (p.Ser384=)
NM_001371986.1(UNC80):c.1157T>C (p.Met386Thr)
NM_001371986.1(UNC80):c.1159G>A (p.Val387Met)
NM_001371986.1(UNC80):c.1164A>G (p.Ala388=)
NM_001371986.1(UNC80):c.1171C>T (p.Pro391Ser) rs774259406
NM_001371986.1(UNC80):c.1180G>C (p.Val394Leu)
NM_001371986.1(UNC80):c.1200+10A>G
NM_001371986.1(UNC80):c.1200+13C>G
NM_001371986.1(UNC80):c.1200+14G>A
NM_001371986.1(UNC80):c.1200+15G>A
NM_001371986.1(UNC80):c.1200+15G>T rs781748328
NM_001371986.1(UNC80):c.1200+18C>G rs2153827306
NM_001371986.1(UNC80):c.1200+20T>C
NM_001371986.1(UNC80):c.1200+9A>T
NM_001371986.1(UNC80):c.1201-10C>A rs1237127801
NM_001371986.1(UNC80):c.1201-10C>G
NM_001371986.1(UNC80):c.1201-12A>G
NM_001371986.1(UNC80):c.1201-12_1201-9del
NM_001371986.1(UNC80):c.1201-6A>G
NM_001371986.1(UNC80):c.1201-7T>C
NM_001371986.1(UNC80):c.1208C>T (p.Thr403Ile)
NM_001371986.1(UNC80):c.1209C>T (p.Thr403=)
NM_001371986.1(UNC80):c.1216T>G (p.Cys406Gly) rs2079649719
NM_001371986.1(UNC80):c.1217G>C (p.Cys406Ser)
NM_001371986.1(UNC80):c.1221C>G (p.Asn407Lys)
NM_001371986.1(UNC80):c.1225G>A (p.Glu409Lys)
NM_001371986.1(UNC80):c.1228dup (p.Glu410fs)
NM_001371986.1(UNC80):c.1233A>G (p.Lys411=)
NM_001371986.1(UNC80):c.1237C>T (p.Leu413Phe) rs2153827421
NM_001371986.1(UNC80):c.1243T>C (p.Ser415Pro)
NM_001371986.1(UNC80):c.126T>C (p.Tyr42=)
NM_001371986.1(UNC80):c.1273A>G (p.Asn425Asp) rs2079653900
NM_001371986.1(UNC80):c.1274A>G (p.Asn425Ser)
NM_001371986.1(UNC80):c.1279C>T (p.Arg427Cys)
NM_001371986.1(UNC80):c.1281T>G (p.Arg427=) rs2153827428
NM_001371986.1(UNC80):c.1290A>G (p.Ala430=)
NM_001371986.1(UNC80):c.131C>T (p.Ala44Val)
NM_001371986.1(UNC80):c.1330A>G (p.Lys444Glu)
NM_001371986.1(UNC80):c.1335+13G>A
NM_001371986.1(UNC80):c.1335+13G>T
NM_001371986.1(UNC80):c.1335+19_1335+28del
NM_001371986.1(UNC80):c.1336-10A>G
NM_001371986.1(UNC80):c.1336-13C>G rs2153827542
NM_001371986.1(UNC80):c.1336-20T>C rs1365215650
NM_001371986.1(UNC80):c.1336-7A>G rs1379016105
NM_001371986.1(UNC80):c.1346G>T (p.Arg449Leu) rs867853653
NM_001371986.1(UNC80):c.1351G>T (p.Glu451Ter) rs2079784277
NM_001371986.1(UNC80):c.1357C>T (p.Arg453Ter) rs2079784643
NM_001371986.1(UNC80):c.1357del (p.Arg453fs) rs1574574226
NM_001371986.1(UNC80):c.1368A>G (p.Lys456=)
NM_001371986.1(UNC80):c.137G>C (p.Cys46Ser)
NM_001371986.1(UNC80):c.1380A>G (p.Pro460=)
NM_001371986.1(UNC80):c.1392A>G (p.Thr464=) rs1574574364
NM_001371986.1(UNC80):c.1407A>G (p.Pro469=)
NM_001371986.1(UNC80):c.1408C>T (p.Arg470Trp)
NM_001371986.1(UNC80):c.141+7G>C
NM_001371986.1(UNC80):c.1412G>A (p.Arg471Lys) rs2153827549
NM_001371986.1(UNC80):c.142-10_142-5dup
NM_001371986.1(UNC80):c.142-3C>T rs2153824558
NM_001371986.1(UNC80):c.142-8A>G
NM_001371986.1(UNC80):c.1427T>C (p.Phe476Ser)
NM_001371986.1(UNC80):c.1433T>C (p.Leu478Pro)
NM_001371986.1(UNC80):c.1437C>G (p.His479Gln) rs373291979
NM_001371986.1(UNC80):c.1437C>T (p.His479=) rs373291979
NM_001371986.1(UNC80):c.1440G>A (p.Glu480=)
NM_001371986.1(UNC80):c.1449G>A (p.Leu483=)
NM_001371986.1(UNC80):c.1458C>T (p.Ser486=)
NM_001371986.1(UNC80):c.1473A>G (p.Thr491=) rs2079793571
NM_001371986.1(UNC80):c.1479C>T (p.Ser493=)
NM_001371986.1(UNC80):c.1490T>G (p.Phe497Cys)
NM_001371986.1(UNC80):c.1513C>A (p.Arg505=)
NM_001371986.1(UNC80):c.152G>A (p.Arg51Gln) rs1359174506
NM_001371986.1(UNC80):c.1545C>G (p.Thr515=)
NM_001371986.1(UNC80):c.1552+12G>C
NM_001371986.1(UNC80):c.1552+14C>G
NM_001371986.1(UNC80):c.1552+14C>T rs1283173313
NM_001371986.1(UNC80):c.1552+2T>C
NM_001371986.1(UNC80):c.1553-14C>G rs2153827615
NM_001371986.1(UNC80):c.1553-14C>T
NM_001371986.1(UNC80):c.1553-19G>A
NM_001371986.1(UNC80):c.1565G>A (p.Arg522Gln)
NM_001371986.1(UNC80):c.1569A>T (p.Arg523=)
NM_001371986.1(UNC80):c.1575T>C (p.Ser525=)
NM_001371986.1(UNC80):c.1581T>C (p.Asp527=)
NM_001371986.1(UNC80):c.1587C>T (p.Ala529=)
NM_001371986.1(UNC80):c.159G>A (p.Leu53=) rs774257370
NM_001371986.1(UNC80):c.1605G>C (p.Leu535=)
NM_001371986.1(UNC80):c.1694-11C>A rs2079946094
NM_001371986.1(UNC80):c.1694-5A>G
NM_001371986.1(UNC80):c.1694-6T>C
NM_001371986.1(UNC80):c.1722T>A (p.Val574=)
NM_001371986.1(UNC80):c.1733A>G (p.Asn578Ser)
NM_001371986.1(UNC80):c.173T>C (p.Leu58Pro) rs2153824564
NM_001371986.1(UNC80):c.1745C>T (p.Ala582Val)
NM_001371986.1(UNC80):c.1746G>A (p.Ala582=)
NM_001371986.1(UNC80):c.174G>T (p.Leu58=) rs761790112
NM_001371986.1(UNC80):c.1764T>C (p.Tyr588=)
NM_001371986.1(UNC80):c.1767A>G (p.Ala589=)
NM_001371986.1(UNC80):c.1773T>C (p.Phe591=) rs2153827723
NM_001371986.1(UNC80):c.1778A>G (p.Asn593Ser)
NM_001371986.1(UNC80):c.1791G>A (p.Arg597=)
NM_001371986.1(UNC80):c.1817del (p.Pro606fs)
NM_001371986.1(UNC80):c.1825C>T (p.Pro609Ser)
NM_001371986.1(UNC80):c.1857T>A (p.Pro619=)
NM_001371986.1(UNC80):c.1857T>G (p.Pro619=)
NM_001371986.1(UNC80):c.1858C>T (p.Arg620Ter) rs2153827732
NM_001371986.1(UNC80):c.1871A>T (p.Asp624Val) rs2153827733
NM_001371986.1(UNC80):c.1889G>A (p.Ser630Asn)
NM_001371986.1(UNC80):c.1897G>C (p.Glu633Gln)
NM_001371986.1(UNC80):c.1899G>A (p.Glu633=)
NM_001371986.1(UNC80):c.190G>A (p.Ala64Thr) rs2076836398
NM_001371986.1(UNC80):c.190G>C (p.Ala64Pro)
NM_001371986.1(UNC80):c.1918G>A (p.Gly640Arg)
NM_001371986.1(UNC80):c.1920G>A (p.Gly640=)
NM_001371986.1(UNC80):c.1923C>G (p.Thr641=)
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr) rs1467598370
NM_001371986.1(UNC80):c.1953T>C (p.Leu651=) rs1224193620
NM_001371986.1(UNC80):c.1962+14A>C rs2153827741
NM_001371986.1(UNC80):c.1963-14C>T
NM_001371986.1(UNC80):c.1963-20G>A
NM_001371986.1(UNC80):c.1963-7T>C
NM_001371986.1(UNC80):c.1978G>C (p.Val660Leu)
NM_001371986.1(UNC80):c.1981T>C (p.Tyr661His) rs2080044530
NM_001371986.1(UNC80):c.1986T>G (p.Leu662=)
NM_001371986.1(UNC80):c.1996C>G (p.His666Asp) rs1371402948
NM_001371986.1(UNC80):c.1997A>G (p.His666Arg)
NM_001371986.1(UNC80):c.2000A>T (p.Asp667Val)
NM_001371986.1(UNC80):c.2002A>G (p.Ile668Val)
NM_001371986.1(UNC80):c.2004C>T (p.Ile668=)
NM_001371986.1(UNC80):c.2014A>G (p.Ile672Val)
NM_001371986.1(UNC80):c.2016C>T (p.Ile672=)
NM_001371986.1(UNC80):c.2017T>C (p.Cys673Arg)
NM_001371986.1(UNC80):c.2018G>A (p.Cys673Tyr)
NM_001371986.1(UNC80):c.2019_2020del (p.Cys673_Asp674delinsTer)
NM_001371986.1(UNC80):c.2027C>G (p.Ala676Gly)
NM_001371986.1(UNC80):c.2040G>T (p.Val680=)
NM_001371986.1(UNC80):c.2046C>T (p.Cys682=)
NM_001371986.1(UNC80):c.204C>T (p.Ala68=)
NM_001371986.1(UNC80):c.2055A>G (p.Gln685=)
NM_001371986.1(UNC80):c.2060G>A (p.Gly687Asp)
NM_001371986.1(UNC80):c.2071T>C (p.Cys691Arg)
NM_001371986.1(UNC80):c.207C>A (p.Ile69=) rs2153824565
NM_001371986.1(UNC80):c.207C>T (p.Ile69=)
NM_001371986.1(UNC80):c.2082G>T (p.Lys694Asn)
NM_001371986.1(UNC80):c.2090AGA[1] (p.Lys698del) rs2153827815
NM_001371986.1(UNC80):c.2115G>A (p.Glu705=)
NM_001371986.1(UNC80):c.2127G>A (p.Lys709=)
NM_001371986.1(UNC80):c.2139G>A (p.Glu713=)
NM_001371986.1(UNC80):c.2154C>T (p.Phe718=)
NM_001371986.1(UNC80):c.2157A>G (p.Lys719=)
NM_001371986.1(UNC80):c.2168G>A (p.Gly723Glu)
NM_001371986.1(UNC80):c.2169A>T (p.Gly723=)
NM_001371986.1(UNC80):c.217T>A (p.Ser73Thr) rs1022019762
NM_001371986.1(UNC80):c.2187C>T (p.Phe729=)
NM_001371986.1(UNC80):c.2188G>A (p.Gly730Arg)
NM_001371986.1(UNC80):c.2211T>C (p.Ala737=)
NM_001371986.1(UNC80):c.2220T>A (p.Gly740=) rs374313755
NM_001371986.1(UNC80):c.2222G>A (p.Gly741Glu)
NM_001371986.1(UNC80):c.2224G>T (p.Gly742Ter)
NM_001371986.1(UNC80):c.2228AAG[1] (p.Glu744del)
NM_001371986.1(UNC80):c.2229A>G (p.Glu743=) rs2080061278
NM_001371986.1(UNC80):c.222A>G (p.Arg74=)
NM_001371986.1(UNC80):c.2232_2246del (p.Glu744_Gly748del)
NM_001371986.1(UNC80):c.2246_2260del (p.Asp749_Gly753del)
NM_001371986.1(UNC80):c.2248G>A (p.Gly750Arg) rs1574592392
NM_001371986.1(UNC80):c.226G>A (p.Glu76Lys)
NM_001371986.1(UNC80):c.2273G>C (p.Gly758Ala) rs573522549
NM_001371986.1(UNC80):c.2277A>T (p.Gly759=)
NM_001371986.1(UNC80):c.2277AGGTGGAGG[3] (p.Gly764_Gly766dup) rs918663368
NM_001371986.1(UNC80):c.2277_2288del (p.Gly763_Gly766del) rs767181561
NM_001371986.1(UNC80):c.2296G>A (p.Gly766Ser)
NM_001371986.1(UNC80):c.2313T>C (p.Asn771=)
NM_001371986.1(UNC80):c.2316T>C (p.Asp772=)
NM_001371986.1(UNC80):c.2322C>A (p.Asn774Lys)
NM_001371986.1(UNC80):c.2327A>T (p.Glu776Val)
NM_001371986.1(UNC80):c.2331+10_2331+26del
NM_001371986.1(UNC80):c.2331+13C>T
NM_001371986.1(UNC80):c.2331+15C>T
NM_001371986.1(UNC80):c.2331+9G>T rs370746956
NM_001371986.1(UNC80):c.2332-11G>A
NM_001371986.1(UNC80):c.2332-11G>C rs747434857
NM_001371986.1(UNC80):c.2332-12C>T
NM_001371986.1(UNC80):c.2332-13T>C
NM_001371986.1(UNC80):c.2332-13del rs2080481983
NM_001371986.1(UNC80):c.2332-19_2332-16del
NM_001371986.1(UNC80):c.2338A>G (p.Ser780Gly)
NM_001371986.1(UNC80):c.2339G>A (p.Ser780Asn) rs2153828195
NM_001371986.1(UNC80):c.2340T>C (p.Ser780=)
NM_001371986.1(UNC80):c.2344C>A (p.Pro782Thr)
NM_001371986.1(UNC80):c.2346T>A (p.Pro782=) rs1574615616
NM_001371986.1(UNC80):c.234G>A (p.Val78=)
NM_001371986.1(UNC80):c.2358T>C (p.His786=)
NM_001371986.1(UNC80):c.2370A>G (p.Leu790=)
NM_001371986.1(UNC80):c.2374A>G (p.Met792Val)
NM_001371986.1(UNC80):c.2398T>C (p.Leu800=)
NM_001371986.1(UNC80):c.2404T>C (p.Cys802Arg) rs2153828205
NM_001371986.1(UNC80):c.2421T>C (p.Gly807=)
NM_001371986.1(UNC80):c.2428C>A (p.His810Asn)
NM_001371986.1(UNC80):c.2431C>T (p.Arg811Ter)
NM_001371986.1(UNC80):c.2432G>A (p.Arg811Gln)
NM_001371986.1(UNC80):c.2434G>A (p.Gly812Arg)
NM_001371986.1(UNC80):c.2436G>A (p.Gly812=) rs2153828206
NM_001371986.1(UNC80):c.2443G>A (p.Gly815Arg)
NM_001371986.1(UNC80):c.2451T>C (p.Arg817=)
NM_001371986.1(UNC80):c.2460C>A (p.His820Gln) rs535847891
NM_001371986.1(UNC80):c.2462A>G (p.Gln821Arg) rs2153828209
NM_001371986.1(UNC80):c.2464G>A (p.Val822Ile)
NM_001371986.1(UNC80):c.2466A>T (p.Val822=)
NM_001371986.1(UNC80):c.2470C>T (p.Arg824Ter) rs1274923045
NM_001371986.1(UNC80):c.2478+12A>T
NM_001371986.1(UNC80):c.2478+15G>C
NM_001371986.1(UNC80):c.2478+1G>A
NM_001371986.1(UNC80):c.2479-17_2479-16del
NM_001371986.1(UNC80):c.2479-5T>C
NM_001371986.1(UNC80):c.2480C>G (p.Ala827Gly)
NM_001371986.1(UNC80):c.2493C>G (p.Leu831=)
NM_001371986.1(UNC80):c.2500C>T (p.Leu834=)
NM_001371986.1(UNC80):c.2513A>T (p.Asp838Val)
NM_001371986.1(UNC80):c.2516A>G (p.Lys839Arg)
NM_001371986.1(UNC80):c.2518A>T (p.Met840Leu)
NM_001371986.1(UNC80):c.2523G>T (p.Gln841His)
NM_001371986.1(UNC80):c.2536A>G (p.Met846Val)
NM_001371986.1(UNC80):c.2537T>C (p.Met846Thr)
NM_001371986.1(UNC80):c.2540G>A (p.Arg847Lys)
NM_001371986.1(UNC80):c.2541G>A (p.Arg847=)
NM_001371986.1(UNC80):c.2547T>C (p.Tyr849=)
NM_001371986.1(UNC80):c.2574A>C (p.Val858=)
NM_001371986.1(UNC80):c.2584T>C (p.Leu862=)
NM_001371986.1(UNC80):c.2586G>T (p.Leu862Phe) rs2153828432
NM_001371986.1(UNC80):c.2591C>G (p.Ala864Gly)
NM_001371986.1(UNC80):c.2597T>C (p.Leu866Pro) rs2153828435
NM_001371986.1(UNC80):c.2619C>A (p.Val873=)
NM_001371986.1(UNC80):c.2626+10G>A
NM_001371986.1(UNC80):c.2626+15A>G rs2080787893
NM_001371986.1(UNC80):c.2626+16C>G rs1022846929
NM_001371986.1(UNC80):c.2626+16C>T
NM_001371986.1(UNC80):c.2626+9A>G
NM_001371986.1(UNC80):c.2627-14C>T rs540670222
NM_001371986.1(UNC80):c.2627-15G>A
NM_001371986.1(UNC80):c.2627-8C>T
NM_001371986.1(UNC80):c.2627-9G>T
NM_001371986.1(UNC80):c.2632G>T (p.Ala878Ser)
NM_001371986.1(UNC80):c.2636G>A (p.Gly879Glu)
NM_001371986.1(UNC80):c.2637G>A (p.Gly879=)
NM_001371986.1(UNC80):c.2664C>T (p.Asp888=)
NM_001371986.1(UNC80):c.2690A>G (p.Glu897Gly)
NM_001371986.1(UNC80):c.2692G>A (p.Gly898Ser) rs2153828634
NM_001371986.1(UNC80):c.2692G>C (p.Gly898Arg)
NM_001371986.1(UNC80):c.2695A>G (p.Ile899Val)
NM_001371986.1(UNC80):c.2700C>T (p.Ile900=)
NM_001371986.1(UNC80):c.2706C>T (p.Ser902=)
NM_001371986.1(UNC80):c.2707G>T (p.Ala903Ser)
NM_001371986.1(UNC80):c.2712G>C (p.Met904Ile) rs2153828637
NM_001371986.1(UNC80):c.2724C>T (p.Leu908=)
NM_001371986.1(UNC80):c.2730A>G (p.Thr910=)
NM_001371986.1(UNC80):c.2736C>A (p.Cys912Ter) rs1271766753
NM_001371986.1(UNC80):c.2737G>A (p.Ala913Thr) rs2080968781
NM_001371986.1(UNC80):c.2743A>G (p.Thr915Ala)
NM_001371986.1(UNC80):c.2750A>G (p.His917Arg) rs1574639981
NM_001371986.1(UNC80):c.2755T>C (p.Leu919=)
NM_001371986.1(UNC80):c.2764C>T (p.Pro922Ser)
NM_001371986.1(UNC80):c.2775+14C>T
NM_001371986.1(UNC80):c.2775+1G>T
NM_001371986.1(UNC80):c.2775+8G>A
NM_001371986.1(UNC80):c.2776-12G>T rs2153828815
NM_001371986.1(UNC80):c.2782T>G (p.Tyr928Asp)
NM_001371986.1(UNC80):c.2790C>T (p.Asp930=)
NM_001371986.1(UNC80):c.2805C>A (p.Val935=)
NM_001371986.1(UNC80):c.2839A>G (p.Arg947Gly)
NM_001371986.1(UNC80):c.2844A>G (p.Arg948=)
NM_001371986.1(UNC80):c.2850C>T (p.Ala950=)
NM_001371986.1(UNC80):c.2856C>T (p.Ser952=)
NM_001371986.1(UNC80):c.2874C>T (p.Ala958=) rs756648889
NM_001371986.1(UNC80):c.2887C>T (p.Pro963Ser)
NM_001371986.1(UNC80):c.2892G>A (p.Gly964=)
NM_001371986.1(UNC80):c.2898G>C (p.Lys966Asn)
NM_001371986.1(UNC80):c.2907G>A (p.Glu969=)
NM_001371986.1(UNC80):c.2918A>G (p.Glu973Gly)
NM_001371986.1(UNC80):c.2918A>T (p.Glu973Val) rs2153828828
NM_001371986.1(UNC80):c.2923A>C (p.Lys975Gln)
NM_001371986.1(UNC80):c.2934C>G (p.Gly978=)
NM_001371986.1(UNC80):c.2935A>G (p.Ser979Gly) rs1397666319
NM_001371986.1(UNC80):c.2939A>G (p.Lys980Arg) rs2153828829
NM_001371986.1(UNC80):c.2942+19C>T
NM_001371986.1(UNC80):c.2942+1G>A
NM_001371986.1(UNC80):c.2943-11C>T
NM_001371986.1(UNC80):c.2943-14C>T
NM_001371986.1(UNC80):c.2943-5C>T
NM_001371986.1(UNC80):c.2943-9T>C
NM_001371986.1(UNC80):c.2943G>A (p.Arg981=)
NM_001371986.1(UNC80):c.2944T>G (p.Ser982Ala)
NM_001371986.1(UNC80):c.2952G>A (p.Ala984=)
NM_001371986.1(UNC80):c.2957G>A (p.Ser986Asn)
NM_001371986.1(UNC80):c.2971G>A (p.Gly991Ser)
NM_001371986.1(UNC80):c.2973C>T (p.Gly991=) rs189909749
NM_001371986.1(UNC80):c.297A>G (p.Leu99=) rs2153824579
NM_001371986.1(UNC80):c.298+11C>G rs183381359
NM_001371986.1(UNC80):c.298+11C>T rs183381359
NM_001371986.1(UNC80):c.298+12G>A
NM_001371986.1(UNC80):c.298+3T>C
NM_001371986.1(UNC80):c.298+8C>T
NM_001371986.1(UNC80):c.299-10T>G
NM_001371986.1(UNC80):c.299-13T>G rs2076919378
NM_001371986.1(UNC80):c.299-15A>G
NM_001371986.1(UNC80):c.299-9C>T rs2076920134
NM_001371986.1(UNC80):c.2992G>A (p.Glu998Lys)
NM_001371986.1(UNC80):c.3002G>A (p.Arg1001His)
NM_001371986.1(UNC80):c.3010A>C (p.Met1004Leu) rs1371876936
NM_001371986.1(UNC80):c.3011T>C (p.Met1004Thr)
NM_001371986.1(UNC80):c.3014C>A (p.Ser1005Tyr)
NM_001371986.1(UNC80):c.3019C>T (p.Arg1007Cys) rs1337125361
NM_001371986.1(UNC80):c.3020G>A (p.Arg1007His) rs202138404
NM_001371986.1(UNC80):c.3020G>C (p.Arg1007Pro) rs202138404
NM_001371986.1(UNC80):c.3024C>T (p.Pro1008=)
NM_001371986.1(UNC80):c.3041+10G>A
NM_001371986.1(UNC80):c.3041+13G>A
NM_001371986.1(UNC80):c.3041+2dup rs2153828873
NM_001371986.1(UNC80):c.3041+9C>A rs767107589
NM_001371986.1(UNC80):c.3041+9C>T
NM_001371986.1(UNC80):c.3042-12G>T
NM_001371986.1(UNC80):c.3042-14C>G
NM_001371986.1(UNC80):c.3042-15T>G
NM_001371986.1(UNC80):c.3042-6C>G
NM_001371986.1(UNC80):c.3042-7C>T
NM_001371986.1(UNC80):c.3042-8G>A
NM_001371986.1(UNC80):c.3043G>A (p.Asp1015Asn)
NM_001371986.1(UNC80):c.3045T>C (p.Asp1015=)
NM_001371986.1(UNC80):c.3059G>C (p.Gly1020Ala) rs2153829193
NM_001371986.1(UNC80):c.3072G>A (p.Gly1024=)
NM_001371986.1(UNC80):c.3072G>C (p.Gly1024=)
NM_001371986.1(UNC80):c.3073C>T (p.Arg1025Trp)
NM_001371986.1(UNC80):c.3099C>T (p.Phe1033=)
NM_001371986.1(UNC80):c.3105C>T (p.Ser1035=)
NM_001371986.1(UNC80):c.3110G>C (p.Ser1037Thr) rs2153829199
NM_001371986.1(UNC80):c.3120T>C (p.Ser1040=)
NM_001371986.1(UNC80):c.3121G>A (p.Asp1041Asn)
NM_001371986.1(UNC80):c.3123C>T (p.Asp1041=)
NM_001371986.1(UNC80):c.313T>C (p.Leu105=) rs2076920833
NM_001371986.1(UNC80):c.3143A>G (p.Gln1048Arg)
NM_001371986.1(UNC80):c.3153A>G (p.Ser1051=)
NM_001371986.1(UNC80):c.3160A>C (p.Thr1054Pro) rs2081572837
NM_001371986.1(UNC80):c.3175G>A (p.Gly1059Arg)
NM_001371986.1(UNC80):c.3184T>A (p.Ser1062Thr)
NM_001371986.1(UNC80):c.3190C>T (p.Arg1064Ter) rs1035839091
NM_001371986.1(UNC80):c.3191G>A (p.Arg1064Gln)
NM_001371986.1(UNC80):c.3200G>A (p.Arg1067His)
NM_001371986.1(UNC80):c.3201C>T (p.Arg1067=)
NM_001371986.1(UNC80):c.3205C>T (p.Arg1069Ter)
NM_001371986.1(UNC80):c.321T>A (p.Val107=)
NM_001371986.1(UNC80):c.3221C>T (p.Ser1074Phe)
NM_001371986.1(UNC80):c.3226C>T (p.Arg1076Ter)
NM_001371986.1(UNC80):c.3227G>A (p.Arg1076Gln) rs977303978
NM_001371986.1(UNC80):c.3227G>T (p.Arg1076Leu)
NM_001371986.1(UNC80):c.3237T>A (p.Leu1079=)
NM_001371986.1(UNC80):c.3246C>T (p.Pro1082=)
NM_001371986.1(UNC80):c.3250+15_3250+16del rs755907070
NM_001371986.1(UNC80):c.3250+7G>A
NM_001371986.1(UNC80):c.3251-11C>G rs2153829278
NM_001371986.1(UNC80):c.3251-19T>C
NM_001371986.1(UNC80):c.3251-19_3251-18del
NM_001371986.1(UNC80):c.3251G>A (p.Gly1084Glu) rs2153829280
NM_001371986.1(UNC80):c.3257G>T (p.Trp1086Leu)
NM_001371986.1(UNC80):c.3258G>T (p.Trp1086Cys)
NM_001371986.1(UNC80):c.3269C>T (p.Ser1090Leu)
NM_001371986.1(UNC80):c.3273C>T (p.Ser1091=) rs1574681450
NM_001371986.1(UNC80):c.3274C>T (p.Leu1092Phe) rs2153829282
NM_001371986.1(UNC80):c.3276C>T (p.Leu1092=) rs1574681469
NM_001371986.1(UNC80):c.3304C>A (p.Leu1102Ile)
NM_001371986.1(UNC80):c.3313A>G (p.Ile1105Val)
NM_001371986.1(UNC80):c.3315T>G (p.Ile1105Met) rs1470998233
NM_001371986.1(UNC80):c.3328C>T (p.Arg1110Ter)
NM_001371986.1(UNC80):c.3330A>G (p.Arg1110=)
NM_001371986.1(UNC80):c.3331C>T (p.Leu1111Phe)
NM_001371986.1(UNC80):c.3357+20T>C rs2153829291
NM_001371986.1(UNC80):c.3357+8G>C
NM_001371986.1(UNC80):c.3358-10C>A
NM_001371986.1(UNC80):c.3358-10C>T rs976022343
NM_001371986.1(UNC80):c.3358-11del rs751700237
NM_001371986.1(UNC80):c.3358-11dup rs751700237
NM_001371986.1(UNC80):c.3358-20_3358-19insA
NM_001371986.1(UNC80):c.3358-8T>C
NM_001371986.1(UNC80):c.3369T>C (p.Thr1123=)
NM_001371986.1(UNC80):c.336C>T (p.Leu112=)
NM_001371986.1(UNC80):c.3373G>T (p.Ala1125Ser) rs1360787915
NM_001371986.1(UNC80):c.3376G>A (p.Val1126Met) rs2124822962
NM_001371986.1(UNC80):c.3396G>A (p.Gly1132=)
NM_001371986.1(UNC80):c.3426T>C (p.Asp1142=)
NM_001371986.1(UNC80):c.3431A>G (p.Glu1144Gly)
NM_001371986.1(UNC80):c.3435G>T (p.Glu1145Asp)
NM_001371986.1(UNC80):c.3444C>T (p.Phe1148=)
NM_001371986.1(UNC80):c.3447G>A (p.Lys1149=)
NM_001371986.1(UNC80):c.3449G>A (p.Arg1150His)
NM_001371986.1(UNC80):c.3452T>G (p.Leu1151Arg) rs2124823069
NM_001371986.1(UNC80):c.3454+12G>A
NM_001371986.1(UNC80):c.3455-12C>A rs1559195156
NM_001371986.1(UNC80):c.3455-14_3455-13inv
NM_001371986.1(UNC80):c.3455-17_3455-10del
NM_001371986.1(UNC80):c.3455-18A>G
NM_001371986.1(UNC80):c.3455-24_3455-9del
NM_001371986.1(UNC80):c.3455-4A>G
NM_001371986.1(UNC80):c.3463A>C (p.Ser1155Arg) rs981665097
NM_001371986.1(UNC80):c.3467T>G (p.Phe1156Cys)
NM_001371986.1(UNC80):c.3477T>C (p.His1159=)
NM_001371986.1(UNC80):c.3487A>G (p.Asn1163Asp)
NM_001371986.1(UNC80):c.3509A>T (p.Lys1170Ile) rs2124838276
NM_001371986.1(UNC80):c.3513C>T (p.Asn1171=)
NM_001371986.1(UNC80):c.3514G>T (p.Val1172Leu) rs201318495
NM_001371986.1(UNC80):c.3516G>A (p.Val1172=)
NM_001371986.1(UNC80):c.3528A>T (p.Gly1176=)
NM_001371986.1(UNC80):c.3535C>A (p.Arg1179=) rs1467630889
NM_001371986.1(UNC80):c.3535C>T (p.Arg1179Ter)
NM_001371986.1(UNC80):c.3537A>G (p.Arg1179=)
NM_001371986.1(UNC80):c.3558A>G (p.Gln1186=)
NM_001371986.1(UNC80):c.355A>T (p.Met119Leu) rs2076922264
NM_001371986.1(UNC80):c.3564G>A (p.Leu1188=)
NM_001371986.1(UNC80):c.3578A>G (p.Glu1193Gly)
NM_001371986.1(UNC80):c.3579G>A (p.Glu1193=)
NM_001371986.1(UNC80):c.3609A>G (p.Leu1203=) rs1450610826
NM_001371986.1(UNC80):c.3627+17A>C rs551008844
NM_001371986.1(UNC80):c.3627+21del rs201965287
NM_001371986.1(UNC80):c.3627+8G>T
NM_001371986.1(UNC80):c.372C>G (p.Pro124=)
NM_001371986.1(UNC80):c.374A>T (p.Gln125Leu)
NM_001371986.1(UNC80):c.3840+11G>A
NM_001371986.1(UNC80):c.3840+11G>C
NM_001371986.1(UNC80):c.3840+14T>A rs2124883083
NM_001371986.1(UNC80):c.3840+19T>C
NM_001371986.1(UNC80):c.3840+20C>T
NM_001371986.1(UNC80):c.3841-7del
NM_001371986.1(UNC80):c.3845T>C (p.Ile1282Thr)
NM_001371986.1(UNC80):c.3849C>T (p.Gly1283=)
NM_001371986.1(UNC80):c.3851T>C (p.Val1284Ala)
NM_001371986.1(UNC80):c.3853C>T (p.Arg1285Ter) rs1574855486
NM_001371986.1(UNC80):c.3854G>A (p.Arg1285Gln)
NM_001371986.1(UNC80):c.3868T>C (p.Cys1290Arg)
NM_001371986.1(UNC80):c.3874G>A (p.Gly1292Arg)
NM_001371986.1(UNC80):c.3875G>C (p.Gly1292Ala)
NM_001371986.1(UNC80):c.3888C>T (p.Ser1296=)
NM_001371986.1(UNC80):c.3891A>G (p.Pro1297=)
NM_001371986.1(UNC80):c.3894C>A (p.Ala1298=)
NM_001371986.1(UNC80):c.3894del (p.Asn1299fs)
NM_001371986.1(UNC80):c.3900G>C (p.Leu1300=) rs1365089103
NM_001371986.1(UNC80):c.3903G>A (p.Leu1301=)
NM_001371986.1(UNC80):c.3906T>A (p.Gly1302=) rs539924028
NM_001371986.1(UNC80):c.390G>A (p.Glu130=)
NM_001371986.1(UNC80):c.3930G>A (p.Lys1310=)
NM_001371986.1(UNC80):c.3933dup (p.Arg1312fs)
NM_001371986.1(UNC80):c.393G>A (p.Arg131=)
NM_001371986.1(UNC80):c.3951T>C (p.Asp1317=)
NM_001371986.1(UNC80):c.3954G>A (p.Glu1318=)
NM_001371986.1(UNC80):c.3954G>T (p.Glu1318Asp) rs2124891102
NM_001371986.1(UNC80):c.3956A>G (p.Glu1319Gly) rs2124891107
NM_001371986.1(UNC80):c.3957G>A (p.Glu1319=)
NM_001371986.1(UNC80):c.3976+13C>T
NM_001371986.1(UNC80):c.3977-12T>A
NM_001371986.1(UNC80):c.3977-19dup
NM_001371986.1(UNC80):c.3977-4_3977-3delinsAC rs2124895684
NM_001371986.1(UNC80):c.3977-5_3977-4delinsAA rs2124895672
NM_001371986.1(UNC80):c.3981T>C (p.Thr1327=)
NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala) rs138421862
NM_001371986.1(UNC80):c.398G>T (p.Gly133Val) rs138421862
NM_001371986.1(UNC80):c.3993T>A (p.Ser1331=)
NM_001371986.1(UNC80):c.3994A>G (p.Lys1332Glu) rs2124895704
NM_001371986.1(UNC80):c.3998G>A (p.Cys1333Tyr) rs1407012746
NM_001371986.1(UNC80):c.3G>A (p.Met1Ile)
NM_001371986.1(UNC80):c.4002T>C (p.Gly1334=)
NM_001371986.1(UNC80):c.4004G>A (p.Cys1335Tyr) rs2124895744
NM_001371986.1(UNC80):c.4006C>T (p.Pro1336Ser)
NM_001371986.1(UNC80):c.4008C>T (p.Pro1336=)
NM_001371986.1(UNC80):c.4014C>T (p.Ala1338=)
NM_001371986.1(UNC80):c.4035G>A (p.Gln1345=) rs1428215887
NM_001371986.1(UNC80):c.4038T>C (p.Leu1346=)
NM_001371986.1(UNC80):c.4050T>C (p.Ile1350=)
NM_001371986.1(UNC80):c.4077T>C (p.Ser1359=)
NM_001371986.1(UNC80):c.4099G>C (p.Glu1367Gln) rs2085246210
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001371986.1(UNC80):c.4100_4110+59del rs2124895900
NM_001371986.1(UNC80):c.4104T>G (p.Pro1368=)
NM_001371986.1(UNC80):c.410G>A (p.Arg137Gln)
NM_001371986.1(UNC80):c.4110+11G>A
NM_001371986.1(UNC80):c.4110+19G>A
NM_001371986.1(UNC80):c.4110+8A>G
NM_001371986.1(UNC80):c.4111-18T>G
NM_001371986.1(UNC80):c.4111-19C>G
NM_001371986.1(UNC80):c.4111-19C>T
NM_001371986.1(UNC80):c.4111G>T (p.Asp1371Tyr)
NM_001371986.1(UNC80):c.4119G>A (p.Glu1373=)
NM_001371986.1(UNC80):c.4127G>T (p.Arg1376Ile)
NM_001371986.1(UNC80):c.4137G>A (p.Leu1379=)
NM_001371986.1(UNC80):c.4147T>C (p.Leu1383=)
NM_001371986.1(UNC80):c.4155G>A (p.Arg1385=) rs2124907302
NM_001371986.1(UNC80):c.4156C>T (p.His1386Tyr)
NM_001371986.1(UNC80):c.4160G>C (p.Arg1387Thr)
NM_001371986.1(UNC80):c.4173G>A (p.Lys1391=)
NM_001371986.1(UNC80):c.4176C>T (p.Ile1392=) rs2086001950
NM_001371986.1(UNC80):c.4187_4188delinsAT (p.Gly1396Asp) rs2124907353
NM_001371986.1(UNC80):c.4192C>T (p.Leu1398=)
NM_001371986.1(UNC80):c.4195G>A (p.Asp1399Asn) rs2124907380
NM_001371986.1(UNC80):c.4197C>A (p.Asp1399Glu)
NM_001371986.1(UNC80):c.4197C>T (p.Asp1399=)
NM_001371986.1(UNC80):c.4206A>G (p.Glu1402=)
NM_001371986.1(UNC80):c.4212A>G (p.Ser1404=)
NM_001371986.1(UNC80):c.4214A>G (p.Lys1405Arg)
NM_001371986.1(UNC80):c.4227C>A (p.His1409Gln) rs2124907427
NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)
NM_001371986.1(UNC80):c.4239C>G (p.His1413Gln)
NM_001371986.1(UNC80):c.4243C>A (p.Leu1415Ile)
NM_001371986.1(UNC80):c.4251A>C (p.Ser1417=)
NM_001371986.1(UNC80):c.425G>A (p.Gly142Asp)
NM_001371986.1(UNC80):c.4263C>T (p.Val1421=) rs972091458
NM_001371986.1(UNC80):c.4269G>A (p.Glu1423=)
NM_001371986.1(UNC80):c.4276+17G>T
NM_001371986.1(UNC80):c.4276+1G>T
NM_001371986.1(UNC80):c.4276+9A>G rs1252041181
NM_001371986.1(UNC80):c.435C>T (p.Ser145=)
NM_001371986.1(UNC80):c.444C>A (p.Phe148Leu)
NM_001371986.1(UNC80):c.4481-10del rs1559284549
NM_001371986.1(UNC80):c.4482A>G (p.Glu1494=)
NM_001371986.1(UNC80):c.4488T>C (p.Ser1496=)
NM_001371986.1(UNC80):c.4495A>C (p.Ser1499Arg) rs2124918491
NM_001371986.1(UNC80):c.44G>A (p.Gly15Asp) rs1574377240
NM_001371986.1(UNC80):c.4511G>C (p.Ser1504Thr) rs1245043035
NM_001371986.1(UNC80):c.4511G>T (p.Ser1504Ile) rs1245043035
NM_001371986.1(UNC80):c.4512C>T (p.Ser1504=)
NM_001371986.1(UNC80):c.4521A>G (p.Pro1507=)
NM_001371986.1(UNC80):c.4532G>A (p.Ser1511Asn)
NM_001371986.1(UNC80):c.4540G>A (p.Gly1514Ser)
NM_001371986.1(UNC80):c.4542C>T (p.Gly1514=)
NM_001371986.1(UNC80):c.4560C>T (p.His1520=)
NM_001371986.1(UNC80):c.4566C>T (p.Asn1522=)
NM_001371986.1(UNC80):c.4566del (p.Asn1522fs)
NM_001371986.1(UNC80):c.4569G>C (p.Met1523Ile)
NM_001371986.1(UNC80):c.4581+11A>G rs2124918665
NM_001371986.1(UNC80):c.4581+19A>G
NM_001371986.1(UNC80):c.4581+5G>T rs2086801801
NM_001371986.1(UNC80):c.4581+7A>G
NM_001371986.1(UNC80):c.4582-16A>T
NM_001371986.1(UNC80):c.4582-4C>A
NM_001371986.1(UNC80):c.4582-9G>A
NM_001371986.1(UNC80):c.4582G>T (p.Val1528Leu)
NM_001371986.1(UNC80):c.4595T>C (p.Leu1532Pro)
NM_001371986.1(UNC80):c.4609_4610del (p.Ser1537fs)
NM_001371986.1(UNC80):c.4613T>C (p.Phe1538Ser) rs2124930829
NM_001371986.1(UNC80):c.4621A>G (p.Thr1541Ala) rs2087975162
NM_001371986.1(UNC80):c.4626C>T (p.His1542=)
NM_001371986.1(UNC80):c.4627G>A (p.Val1543Ile) rs994979037
NM_001371986.1(UNC80):c.4627G>T (p.Val1543Phe) rs994979037
NM_001371986.1(UNC80):c.462C>T (p.Asn154=)
NM_001371986.1(UNC80):c.4644C>G (p.Pro1548=)
NM_001371986.1(UNC80):c.4645C>T (p.His1549Tyr)
NM_001371986.1(UNC80):c.4649G>T (p.Cys1550Phe)
NM_001371986.1(UNC80):c.4649_4651del (p.Cys1550del) rs908109002
NM_001371986.1(UNC80):c.4652A>G (p.Tyr1551Cys) rs770083418
NM_001371986.1(UNC80):c.4658A>G (p.His1553Arg) rs775914722
NM_001371986.1(UNC80):c.4658A>T (p.His1553Leu)
NM_001371986.1(UNC80):c.4662C>T (p.His1554=)
NM_001371986.1(UNC80):c.4677C>G (p.Ala1559=) rs1574961396
NM_001371986.1(UNC80):c.4679G>A (p.Arg1560Gln)
NM_001371986.1(UNC80):c.467G>T (p.Gly156Val)
NM_001371986.1(UNC80):c.4706A>G (p.Tyr1569Cys)
NM_001371986.1(UNC80):c.4715G>A (p.Ser1572Asn)
NM_001371986.1(UNC80):c.4742A>C (p.Asn1581Thr)
NM_001371986.1(UNC80):c.4755G>A (p.Val1585=)
NM_001371986.1(UNC80):c.4758T>C (p.Ala1586=)
NM_001371986.1(UNC80):c.4765G>T (p.Gly1589Cys) rs2124931069
NM_001371986.1(UNC80):c.4768A>G (p.Lys1590Glu) rs2124931080
NM_001371986.1(UNC80):c.476G>A (p.Gly159Glu)
NM_001371986.1(UNC80):c.4770G>A (p.Lys1590=)
NM_001371986.1(UNC80):c.4779A>C (p.Lys1593Asn)
NM_001371986.1(UNC80):c.4779A>G (p.Lys1593=)
NM_001371986.1(UNC80):c.477G>A (p.Gly159=)
NM_001371986.1(UNC80):c.4782+11G>T
NM_001371986.1(UNC80):c.4782+12A>G
NM_001371986.1(UNC80):c.4782+12A>T
NM_001371986.1(UNC80):c.4782+14C>T
NM_001371986.1(UNC80):c.4782+19A>C
NM_001371986.1(UNC80):c.4782+5_4782+8del rs1201281609
NM_001371986.1(UNC80):c.4783-10G>A
NM_001371986.1(UNC80):c.4783-14C>T
NM_001371986.1(UNC80):c.4793A>G (p.Lys1598Arg) rs2124941394
NM_001371986.1(UNC80):c.4797A>G (p.Ser1599=)
NM_001371986.1(UNC80):c.4807A>G (p.Thr1603Ala) rs1023477727
NM_001371986.1(UNC80):c.4809A>G (p.Thr1603=)
NM_001371986.1(UNC80):c.4821G>A (p.Lys1607=) rs1574989245
NM_001371986.1(UNC80):c.4842T>C (p.Asn1614=)
NM_001371986.1(UNC80):c.4851A>G (p.Gly1617=) rs1574989351
NM_001371986.1(UNC80):c.4852A>G (p.Lys1618Glu)
NM_001371986.1(UNC80):c.4890+10C>T
NM_001371986.1(UNC80):c.4890+20_4890+22del rs2124941601
NM_001371986.1(UNC80):c.4890+7T>C rs113342352
NM_001371986.1(UNC80):c.4891-10C>G
NM_001371986.1(UNC80):c.4891-12A>T rs911343804
NM_001371986.1(UNC80):c.4891-1G>A
NM_001371986.1(UNC80):c.4893G>A (p.Val1631=)
NM_001371986.1(UNC80):c.4905G>A (p.Ser1635=)
NM_001371986.1(UNC80):c.4923G>T (p.Leu1641=) rs1559319182
NM_001371986.1(UNC80):c.4926A>G (p.Leu1642=)
NM_001371986.1(UNC80):c.492C>G (p.Ser164Arg)
NM_001371986.1(UNC80):c.4938A>G (p.Ala1646=)
NM_001371986.1(UNC80):c.4945C>G (p.Leu1649Val)
NM_001371986.1(UNC80):c.494G>T (p.Ser165Ile)
NM_001371986.1(UNC80):c.4953G>A (p.Glu1651=)
NM_001371986.1(UNC80):c.4962C>T (p.Tyr1654=)
NM_001371986.1(UNC80):c.4963G>A (p.Gly1655Arg)
NM_001371986.1(UNC80):c.497C>G (p.Ser166Cys)
NM_001371986.1(UNC80):c.4985G>A (p.Trp1662Ter)
NM_001371986.1(UNC80):c.4996C>T (p.Leu1666Phe)
NM_001371986.1(UNC80):c.4997T>C (p.Leu1666Pro)
NM_001371986.1(UNC80):c.501T>A (p.Asn167Lys)
NM_001371986.1(UNC80):c.501T>C (p.Asn167=)
NM_001371986.1(UNC80):c.5024C>A (p.Ala1675Glu) rs1336013617
NM_001371986.1(UNC80):c.5024C>T (p.Ala1675Val)
NM_001371986.1(UNC80):c.5029+12C>A
NM_001371986.1(UNC80):c.5029+13C>A
NM_001371986.1(UNC80):c.5029+14A>T
NM_001371986.1(UNC80):c.5029+16C>G
NM_001371986.1(UNC80):c.5029+1G>A
NM_001371986.1(UNC80):c.5029+20A>C
NM_001371986.1(UNC80):c.504C>T (p.Asp168=)
NM_001371986.1(UNC80):c.50G>T (p.Gly17Val) rs2153824309
NM_001371986.1(UNC80):c.518A>G (p.Asn173Ser)
NM_001371986.1(UNC80):c.51C>G (p.Gly17=)
NM_001371986.1(UNC80):c.5344-11T>C
NM_001371986.1(UNC80):c.5344-13dup
NM_001371986.1(UNC80):c.5344-17C>A
NM_001371986.1(UNC80):c.5344-17C>G rs552998183
NM_001371986.1(UNC80):c.5344-18G>A
NM_001371986.1(UNC80):c.5344-19T>A rs1205186212
NM_001371986.1(UNC80):c.5344-6C>T
NM_001371986.1(UNC80):c.5379T>A (p.His1793Gln) rs2124953036
NM_001371986.1(UNC80):c.5388A>G (p.Ala1796=)
NM_001371986.1(UNC80):c.5402A>G (p.Lys1801Arg)
NM_001371986.1(UNC80):c.5412G>A (p.Gln1804=)
NM_001371986.1(UNC80):c.5418G>A (p.Glu1806=)
NM_001371986.1(UNC80):c.5427G>A (p.Lys1809=)
NM_001371986.1(UNC80):c.543C>T (p.Ser181=)
NM_001371986.1(UNC80):c.544A>G (p.Met182Val)
NM_001371986.1(UNC80):c.5457C>T (p.Ile1819=)
NM_001371986.1(UNC80):c.5469C>G (p.Pro1823=)
NM_001371986.1(UNC80):c.5469C>T (p.Pro1823=) rs369081881
NM_001371986.1(UNC80):c.5476C>T (p.Gln1826Ter) rs2124953130
NM_001371986.1(UNC80):c.5481G>A (p.Glu1827=)
NM_001371986.1(UNC80):c.5499A>T (p.Thr1833=)
NM_001371986.1(UNC80):c.5505G>A (p.Thr1835=)
NM_001371986.1(UNC80):c.5505G>C (p.Thr1835=)
NM_001371986.1(UNC80):c.5505G>T (p.Thr1835=)
NM_001371986.1(UNC80):c.5518C>T (p.Pro1840Ser)
NM_001371986.1(UNC80):c.5523A>G (p.Glu1841=) rs2124953221
NM_001371986.1(UNC80):c.5530+12dup rs2124953257
NM_001371986.1(UNC80):c.5530+14A>G
NM_001371986.1(UNC80):c.5530+17G>A
NM_001371986.1(UNC80):c.5530+3G>T rs2124953239
NM_001371986.1(UNC80):c.5530+7T>C
NM_001371986.1(UNC80):c.5531-10T>C
NM_001371986.1(UNC80):c.5531-17C>A rs2124953901
NM_001371986.1(UNC80):c.5531-17C>T
NM_001371986.1(UNC80):c.5531-5G>C
NM_001371986.1(UNC80):c.5531-9G>A
NM_001371986.1(UNC80):c.5534A>T (p.Glu1845Val) rs2124953934
NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs) rs2090097617
NM_001371986.1(UNC80):c.5571G>C (p.Val1857=)
NM_001371986.1(UNC80):c.5577A>G (p.Pro1859=) rs2124954018
NM_001371986.1(UNC80):c.5577A>T (p.Pro1859=)
NM_001371986.1(UNC80):c.5578T>C (p.Ser1860Pro)
NM_001371986.1(UNC80):c.5594C>G (p.Thr1865Ser)
NM_001371986.1(UNC80):c.5595T>C (p.Thr1865=)
NM_001371986.1(UNC80):c.5603G>A (p.Arg1868Lys)
NM_001371986.1(UNC80):c.5618G>A (p.Arg1873His) rs1051195562
NM_001371986.1(UNC80):c.5625G>T (p.Gly1875=) rs540392120
NM_001371986.1(UNC80):c.5641C>A (p.Arg1881Ser)
NM_001371986.1(UNC80):c.5642G>A (p.Arg1881His)
NM_001371986.1(UNC80):c.5642_5657dup (p.Glu1887fs)
NM_001371986.1(UNC80):c.5643T>C (p.Arg1881=)
NM_001371986.1(UNC80):c.564C>T (p.Phe188=)
NM_001371986.1(UNC80):c.5656G>A (p.Ala1886Thr)
NM_001371986.1(UNC80):c.5660A>G (p.Glu1887Gly)
NM_001371986.1(UNC80):c.5662+19G>A
NM_001371986.1(UNC80):c.5662+19G>C
NM_001371986.1(UNC80):c.5662+20T>A
NM_001371986.1(UNC80):c.5662+7C>G
NM_001371986.1(UNC80):c.5662+9T>C
NM_001371986.1(UNC80):c.5663-10C>T
NM_001371986.1(UNC80):c.5666A>C (p.Glu1889Ala)
NM_001371986.1(UNC80):c.5683C>T (p.His1895Tyr)
NM_001371986.1(UNC80):c.5700T>C (p.His1900=)
NM_001371986.1(UNC80):c.5706_5710del (p.Gln1903fs)
NM_001371986.1(UNC80):c.5715A>G (p.Pro1905=)
NM_001371986.1(UNC80):c.5719G>A (p.Ala1907Thr) rs1476475256
NM_001371986.1(UNC80):c.5730A>C (p.Pro1910=)
NM_001371986.1(UNC80):c.5730A>T (p.Pro1910=) rs2124960289
NM_001371986.1(UNC80):c.5742T>C (p.Cys1914=)
NM_001371986.1(UNC80):c.5752C>T (p.Leu1918Phe)
NM_001371986.1(UNC80):c.5758A>G (p.Ile1920Val)
NM_001371986.1(UNC80):c.5765A>T (p.His1922Leu)
NM_001371986.1(UNC80):c.5789G>A (p.Arg1930Gln)
NM_001371986.1(UNC80):c.5799A>G (p.Gly1933=)
NM_001371986.1(UNC80):c.5806+15A>G
NM_001371986.1(UNC80):c.5806+16_5806+24del
NM_001371986.1(UNC80):c.5806+20G>A rs138542040
NM_001371986.1(UNC80):c.5806+20G>C
NM_001371986.1(UNC80):c.5806+20G>T rs138542040
NM_001371986.1(UNC80):c.5806+6G>A
NM_001371986.1(UNC80):c.5807-13T>A
NM_001371986.1(UNC80):c.5807-4G>C rs2124964113
NM_001371986.1(UNC80):c.5810G>C (p.Ser1937Thr)
NM_001371986.1(UNC80):c.5815G>A (p.Val1939Met) rs2124964127
NM_001371986.1(UNC80):c.5832A>G (p.Leu1944=)
NM_001371986.1(UNC80):c.583C>T (p.Leu195=)
NM_001371986.1(UNC80):c.5859A>G (p.Ser1953=)
NM_001371986.1(UNC80):c.5862G>A (p.Thr1954=)
NM_001371986.1(UNC80):c.5862G>T (p.Thr1954=) rs776047993
NM_001371986.1(UNC80):c.5869C>T (p.Arg1957Ter) rs1262654975
NM_001371986.1(UNC80):c.5901T>C (p.Asn1967=)
NM_001371986.1(UNC80):c.5907+14_5907+25dup
NM_001371986.1(UNC80):c.5907+18T>G
NM_001371986.1(UNC80):c.5907+1G>A rs2124964267
NM_001371986.1(UNC80):c.5908-7_5908-5del
NM_001371986.1(UNC80):c.5913del (p.Glu1971fs)
NM_001371986.1(UNC80):c.591C>G (p.His197Gln)
NM_001371986.1(UNC80):c.5925G>T (p.Met1975Ile) rs2124965705
NM_001371986.1(UNC80):c.5929C>T (p.Arg1977Cys)
NM_001371986.1(UNC80):c.5934A>G (p.Lys1978=)
NM_001371986.1(UNC80):c.5952A>T (p.Gly1984=)
NM_001371986.1(UNC80):c.5958T>C (p.Phe1986=)
NM_001371986.1(UNC80):c.5960C>T (p.Pro1987Leu) rs2124965758
NM_001371986.1(UNC80):c.5966A>C (p.Gln1989Pro)
NM_001371986.1(UNC80):c.5976C>T (p.His1992=)
NM_001371986.1(UNC80):c.5985C>T (p.Phe1995=) rs2124965784
NM_001371986.1(UNC80):c.5994+14G>C rs1410916746
NM_001371986.1(UNC80):c.5994+17del
NM_001371986.1(UNC80):c.5994+18A>G
NM_001371986.1(UNC80):c.5994G>T (p.Leu1998Phe) rs2124965789
NM_001371986.1(UNC80):c.5995-5dup
NM_001371986.1(UNC80):c.5996T>A (p.Val1999Glu) rs984602297
NM_001371986.1(UNC80):c.600+11A>C
NM_001371986.1(UNC80):c.600+14C>G
NM_001371986.1(UNC80):c.601-15T>G
NM_001371986.1(UNC80):c.601-17C>T rs976987439
NM_001371986.1(UNC80):c.601-1G>A rs1574434743
NM_001371986.1(UNC80):c.601-4dup
NM_001371986.1(UNC80):c.601-5C>G rs181537497
NM_001371986.1(UNC80):c.601-5C>T
NM_001371986.1(UNC80):c.601-6C>G
NM_001371986.1(UNC80):c.6018G>A (p.Val2006=)
NM_001371986.1(UNC80):c.6018G>C (p.Val2006=)
NM_001371986.1(UNC80):c.6032A>G (p.Glu2011Gly) rs2091062703
NM_001371986.1(UNC80):c.6033G>A (p.Glu2011=)
NM_001371986.1(UNC80):c.6036G>A (p.Trp2012Ter)
NM_001371986.1(UNC80):c.6039del (p.Met2014fs)
NM_001371986.1(UNC80):c.6040A>G (p.Met2014Val) rs2091063261
NM_001371986.1(UNC80):c.6063G>C (p.Leu2021=)
NM_001371986.1(UNC80):c.606T>C (p.Ser202=)
NM_001371986.1(UNC80):c.6072G>C (p.Leu2024=)
NM_001371986.1(UNC80):c.6084G>A (p.Val2028=)
NM_001371986.1(UNC80):c.6095A>G (p.Glu2032Gly) rs2124969677
NM_001371986.1(UNC80):c.609C>T (p.Asp203=)
NM_001371986.1(UNC80):c.6102C>G (p.Leu2034=)
NM_001371986.1(UNC80):c.610C>T (p.Leu204Phe) rs2153825221
NM_001371986.1(UNC80):c.6113A>G (p.Asp2038Gly)
NM_001371986.1(UNC80):c.6116T>G (p.Leu2039Arg)
NM_001371986.1(UNC80):c.6126G>A (p.Thr2042=)
NM_001371986.1(UNC80):c.6127A>T (p.Met2043Leu)
NM_001371986.1(UNC80):c.6139C>T (p.Gln2047Ter)
NM_001371986.1(UNC80):c.6141G>T (p.Gln2047His) rs2124969737
NM_001371986.1(UNC80):c.6148G>A (p.Val2050Met)
NM_001371986.1(UNC80):c.6166G>T (p.Ala2056Ser)
NM_001371986.1(UNC80):c.6178+18T>C
NM_001371986.1(UNC80):c.6178+1G>T
NM_001371986.1(UNC80):c.6179-11A>C
NM_001371986.1(UNC80):c.6180T>A (p.Gly2060=)
NM_001371986.1(UNC80):c.6184A>T (p.Lys2062Ter)
NM_001371986.1(UNC80):c.6192G>A (p.Leu2064=)
NM_001371986.1(UNC80):c.6192G>T (p.Leu2064Phe)
NM_001371986.1(UNC80):c.6204A>G (p.Gly2068=) rs2091201204
NM_001371986.1(UNC80):c.6216C>A (p.Cys2072Ter)
NM_001371986.1(UNC80):c.6216C>T (p.Cys2072=)
NM_001371986.1(UNC80):c.6217G>A (p.Asp2073Asn) rs2124971867
NM_001371986.1(UNC80):c.6273+10A>C rs2124971916
NM_001371986.1(UNC80):c.6273+16_6273+30del rs2124971918
NM_001371986.1(UNC80):c.6273+18C>A
NM_001371986.1(UNC80):c.6273+18C>T
NM_001371986.1(UNC80):c.6273+19A>C
NM_001371986.1(UNC80):c.6273+3A>T
NM_001371986.1(UNC80):c.6273+4G>A rs550058061
NM_001371986.1(UNC80):c.6274-10A>G
NM_001371986.1(UNC80):c.6274-12C>T
NM_001371986.1(UNC80):c.6274-13G>C
NM_001371986.1(UNC80):c.6274-16G>A
NM_001371986.1(UNC80):c.6274-17T>G
NM_001371986.1(UNC80):c.6295A>G (p.Ile2099Val)
NM_001371986.1(UNC80):c.6303A>T (p.Glu2101Asp)
NM_001371986.1(UNC80):c.6312A>C (p.Ser2104=) rs2124973217
NM_001371986.1(UNC80):c.6314C>A (p.Thr2105Lys)
NM_001371986.1(UNC80):c.6316C>T (p.His2106Tyr)
NM_001371986.1(UNC80):c.6339A>T (p.Arg2113=)
NM_001371986.1(UNC80):c.6350T>C (p.Ile2117Thr) rs750862679
NM_001371986.1(UNC80):c.6363+10del
NM_001371986.1(UNC80):c.6363+12G>C
NM_001371986.1(UNC80):c.6363G>A (p.Lys2121=)
NM_001371986.1(UNC80):c.6364-15A>T
NM_001371986.1(UNC80):c.6364-16T>C
NM_001371986.1(UNC80):c.6364-18T>C
NM_001371986.1(UNC80):c.6364-5C>T rs965751695
NM_001371986.1(UNC80):c.6364-6A>C
NM_001371986.1(UNC80):c.6366C>A (p.Thr2122=)
NM_001371986.1(UNC80):c.6366C>T (p.Thr2122=)
NM_001371986.1(UNC80):c.6369T>C (p.Tyr2123=)
NM_001371986.1(UNC80):c.6374G>A (p.Arg2125Gln)
NM_001371986.1(UNC80):c.6379A>C (p.Ile2127Leu) rs2091333731
NM_001371986.1(UNC80):c.6391C>A (p.Arg2131=)
NM_001371986.1(UNC80):c.6391C>G (p.Arg2131Gly)
NM_001371986.1(UNC80):c.6399A>G (p.Ser2133=)
NM_001371986.1(UNC80):c.6433C>A (p.Pro2145Thr)
NM_001371986.1(UNC80):c.6433C>T (p.Pro2145Ser)
NM_001371986.1(UNC80):c.6435A>G (p.Pro2145=)
NM_001371986.1(UNC80):c.6436G>A (p.Glu2146Lys) rs2124974197
NM_001371986.1(UNC80):c.6445C>T (p.Gln2149Ter) rs1336618986
NM_001371986.1(UNC80):c.6462A>G (p.Lys2154=)
NM_001371986.1(UNC80):c.6465+11A>G
NM_001371986.1(UNC80):c.6465+13G>A
NM_001371986.1(UNC80):c.6465+3G>A rs2124974237
NM_001371986.1(UNC80):c.6465+8A>G
NM_001371986.1(UNC80):c.6466-10T>G
NM_001371986.1(UNC80):c.6466-14_6466-12del
NM_001371986.1(UNC80):c.6466-16C>T
NM_001371986.1(UNC80):c.6466-19C>T
NM_001371986.1(UNC80):c.6466-20C>T
NM_001371986.1(UNC80):c.6466-6C>T
NM_001371986.1(UNC80):c.6473C>A (p.Thr2158Asn)
NM_001371986.1(UNC80):c.6475C>T (p.Arg2159Ter)
NM_001371986.1(UNC80):c.6481C>A (p.Leu2161Met) rs2124976588
NM_001371986.1(UNC80):c.6495G>A (p.Gly2165=)
NM_001371986.1(UNC80):c.649C>T (p.Pro217Ser)
NM_001371986.1(UNC80):c.6530T>C (p.Ile2177Thr)
NM_001371986.1(UNC80):c.6534C>G (p.Pro2178=)
NM_001371986.1(UNC80):c.653T>C (p.Met218Thr) rs761062440
NM_001371986.1(UNC80):c.6555C>G (p.His2185Gln) rs78714720
NM_001371986.1(UNC80):c.6570G>A (p.Gln2190=)
NM_001371986.1(UNC80):c.6571G>C (p.Glu2191Gln)
NM_001371986.1(UNC80):c.6578TCC[1] (p.Leu2194del)
NM_001371986.1(UNC80):c.6582C>G (p.Leu2194=) rs1227373860
NM_001371986.1(UNC80):c.6583C>T (p.Arg2195Cys) rs926523476
NM_001371986.1(UNC80):c.6585C>T (p.Arg2195=)
NM_001371986.1(UNC80):c.6594A>G (p.Ser2198=)
NM_001371986.1(UNC80):c.6606T>C (p.Ser2202=)
NM_001371986.1(UNC80):c.6627A>C (p.Ser2209=) rs151224743
NM_001371986.1(UNC80):c.6627A>G (p.Ser2209=)
NM_001371986.1(UNC80):c.6628C>T (p.Leu2210Phe)
NM_001371986.1(UNC80):c.6636T>C (p.Ser2212=)
NM_001371986.1(UNC80):c.6645_6646+3dup rs1263562958
NM_001371986.1(UNC80):c.6646+19T>C
NM_001371986.1(UNC80):c.6646+20T>G rs2124976853
NM_001371986.1(UNC80):c.6646+2_6646+3insTTGATCCTCAAG
NM_001371986.1(UNC80):c.6646+8A>G
NM_001371986.1(UNC80):c.6646+9C>G rs1348162198
NM_001371986.1(UNC80):c.6646_6646+1insTCATT
NM_001371986.1(UNC80):c.6647-12A>G
NM_001371986.1(UNC80):c.6647-17G>C
NM_001371986.1(UNC80):c.6647-20G>A
NM_001371986.1(UNC80):c.6647-4A>G
NM_001371986.1(UNC80):c.6647-7C>T
NM_001371986.1(UNC80):c.6658C>T (p.Leu2220=)
NM_001371986.1(UNC80):c.6669C>T (p.Leu2223=)
NM_001371986.1(UNC80):c.667C>T (p.Gln223Ter)
NM_001371986.1(UNC80):c.6703C>T (p.Leu2235=)
NM_001371986.1(UNC80):c.6712A>T (p.Met2238Leu) rs2124978948
NM_001371986.1(UNC80):c.6723C>T (p.Gly2241=) rs2091615349
NM_001371986.1(UNC80):c.6729G>A (p.Pro2243=)
NM_001371986.1(UNC80):c.6729G>C (p.Pro2243=) rs755271366
NM_001371986.1(UNC80):c.6732C>T (p.Ser2244=) rs375767442
NM_001371986.1(UNC80):c.6738T>C (p.Phe2246=)
NM_001371986.1(UNC80):c.675A>C (p.Gly225=)
NM_001371986.1(UNC80):c.676G>A (p.Val226Ile)
NM_001371986.1(UNC80):c.6774T>G (p.Val2258=)
NM_001371986.1(UNC80):c.6778A>G (p.Asn2260Asp)
NM_001371986.1(UNC80):c.6787C>T (p.Leu2263=)
NM_001371986.1(UNC80):c.6838G>A (p.Val2280Ile) rs1314338608
NM_001371986.1(UNC80):c.6849C>T (p.Thr2283=)
NM_001371986.1(UNC80):c.6870C>A (p.Leu2290=)
NM_001371986.1(UNC80):c.6893G>A (p.Trp2298Ter) rs1064796916
NM_001371986.1(UNC80):c.689C>A (p.Thr230Asn)
NM_001371986.1(UNC80):c.6900C>T (p.Leu2300=)
NM_001371986.1(UNC80):c.6906C>A (p.Thr2302=) rs2124979229
NM_001371986.1(UNC80):c.6906C>T (p.Thr2302=)
NM_001371986.1(UNC80):c.690C>G (p.Thr230=)
NM_001371986.1(UNC80):c.6915+10A>G
NM_001371986.1(UNC80):c.6915+11C>A
NM_001371986.1(UNC80):c.6915+15C>T
NM_001371986.1(UNC80):c.6915+20C>T
NM_001371986.1(UNC80):c.6915+7A>G
NM_001371986.1(UNC80):c.6916-14G>A
NM_001371986.1(UNC80):c.6916-19A>G
NM_001371986.1(UNC80):c.6916-7dup
NM_001371986.1(UNC80):c.6916-8T>G
NM_001371986.1(UNC80):c.6921C>T (p.Tyr2307=)
NM_001371986.1(UNC80):c.6924C>T (p.Ser2308=)
NM_001371986.1(UNC80):c.6927C>G (p.Asp2309Glu) rs2091747405
NM_001371986.1(UNC80):c.693A>G (p.Ala231=)
NM_001371986.1(UNC80):c.6942C>T (p.Pro2314=)
NM_001371986.1(UNC80):c.6947T>A (p.Leu2316Gln)
NM_001371986.1(UNC80):c.6951T>C (p.Arg2317=)
NM_001371986.1(UNC80):c.6961G>A (p.Glu2321Lys)
NM_001371986.1(UNC80):c.6976C>A (p.Gln2326Lys)
NM_001371986.1(UNC80):c.6978G>A (p.Gln2326=)
NM_001371986.1(UNC80):c.6987T>A (p.Ile2329=)
NM_001371986.1(UNC80):c.6993C>T (p.His2331=) rs1319509980
NM_001371986.1(UNC80):c.6995G>A (p.Arg2332Gln) rs2124981635
NM_001371986.1(UNC80):c.6999G>A (p.Lys2333=)
NM_001371986.1(UNC80):c.69G>T (p.Gln23His)
NM_001371986.1(UNC80):c.7000C>A (p.Pro2334Thr) rs2124981640
NM_001371986.1(UNC80):c.7011C>T (p.Leu2337=)
NM_001371986.1(UNC80):c.7017G>A (p.Leu2339=)
NM_001371986.1(UNC80):c.7017G>C (p.Leu2339=)
NM_001371986.1(UNC80):c.7022C>G (p.Ala2341Gly)
NM_001371986.1(UNC80):c.7030G>A (p.Ala2344Thr) rs75230120
NM_001371986.1(UNC80):c.7041G>A (p.Leu2347=)
NM_001371986.1(UNC80):c.7050+16G>A
NM_001371986.1(UNC80):c.7050+19A>G
NM_001371986.1(UNC80):c.7050+27del rs751647341
NM_001371986.1(UNC80):c.7050+27dup rs751647341
NM_001371986.1(UNC80):c.7050+9G>T
NM_001371986.1(UNC80):c.7051-14T>C
NM_001371986.1(UNC80):c.7065T>C (p.Asn2355=)
NM_001371986.1(UNC80):c.7068G>A (p.Gly2356=)
NM_001371986.1(UNC80):c.7074C>T (p.Ser2358=)
NM_001371986.1(UNC80):c.7089T>C (p.Ala2363=)
NM_001371986.1(UNC80):c.7105T>C (p.Leu2369=)
NM_001371986.1(UNC80):c.7134C>G (p.Thr2378=)
NM_001371986.1(UNC80):c.7141T>G (p.Leu2381Val)
NM_001371986.1(UNC80):c.7147A>G (p.Ile2383Val) rs2124983508
NM_001371986.1(UNC80):c.7148T>G (p.Ile2383Ser)
NM_001371986.1(UNC80):c.7159G>A (p.Val2387Ile)
NM_001371986.1(UNC80):c.715A>G (p.Ile239Val) rs753785496
NM_001371986.1(UNC80):c.7168G>A (p.Glu2390Lys)
NM_001371986.1(UNC80):c.7173G>A (p.Lys2391=)
NM_001371986.1(UNC80):c.7181A>G (p.Lys2394Arg) rs2124983569
NM_001371986.1(UNC80):c.7185A>G (p.Ser2395=)
NM_001371986.1(UNC80):c.7186T>C (p.Leu2396=)
NM_001371986.1(UNC80):c.7189+4A>G
NM_001371986.1(UNC80):c.7189+8C>A
NM_001371986.1(UNC80):c.7190-10G>A
NM_001371986.1(UNC80):c.7190-11del
NM_001371986.1(UNC80):c.7190-7C>G
NM_001371986.1(UNC80):c.7206C>T (p.Asn2402=)
NM_001371986.1(UNC80):c.7228A>G (p.Ser2410Gly) rs2124984318
NM_001371986.1(UNC80):c.7229G>C (p.Ser2410Thr)
NM_001371986.1(UNC80):c.7230T>C (p.Ser2410=)
NM_001371986.1(UNC80):c.724+15C>A rs1488556538
NM_001371986.1(UNC80):c.724+16A>G
NM_001371986.1(UNC80):c.724+19C>G
NM_001371986.1(UNC80):c.724+19C>T
NM_001371986.1(UNC80):c.724+1G>T
NM_001371986.1(UNC80):c.724+20A>C
NM_001371986.1(UNC80):c.724+9C>T
NM_001371986.1(UNC80):c.725-10G>T
NM_001371986.1(UNC80):c.725-11del
NM_001371986.1(UNC80):c.725-18C>A
NM_001371986.1(UNC80):c.725-5T>C
NM_001371986.1(UNC80):c.7251C>T (p.Val2417=)
NM_001371986.1(UNC80):c.7263G>T (p.Ala2421=) rs10202111
NM_001371986.1(UNC80):c.7272C>A (p.Pro2424=)
NM_001371986.1(UNC80):c.7278A>G (p.Ser2426=)
NM_001371986.1(UNC80):c.727A>G (p.Lys243Glu)
NM_001371986.1(UNC80):c.7286+11C>T
NM_001371986.1(UNC80):c.7286+15T>G
NM_001371986.1(UNC80):c.7286+17A>T
NM_001371986.1(UNC80):c.7287-2A>C rs2124994410
NM_001371986.1(UNC80):c.7287-8G>A
NM_001371986.1(UNC80):c.7288C>T (p.Leu2430Phe)
NM_001371986.1(UNC80):c.7295T>A (p.Met2432Lys)
NM_001371986.1(UNC80):c.7298T>C (p.Leu2433Pro) rs2124994427
NM_001371986.1(UNC80):c.7314C>T (p.Ala2438=) rs2092311943
NM_001371986.1(UNC80):c.7315T>A (p.Leu2439Ile)
NM_001371986.1(UNC80):c.7323A>G (p.Pro2441=)
NM_001371986.1(UNC80):c.7330C>T (p.Leu2444=)
NM_001371986.1(UNC80):c.7332A>G (p.Leu2444=)
NM_001371986.1(UNC80):c.7334A>G (p.Gln2445Arg)
NM_001371986.1(UNC80):c.7338G>T (p.Lys2446Asn) rs2124994476
NM_001371986.1(UNC80):c.7344G>A (p.Lys2448=)
NM_001371986.1(UNC80):c.7347G>T (p.Arg2449Ser)
NM_001371986.1(UNC80):c.7390A>C (p.Ile2464Leu)
NM_001371986.1(UNC80):c.7395G>A (p.Ala2465=)
NM_001371986.1(UNC80):c.7402G>A (p.Ala2468Thr)
NM_001371986.1(UNC80):c.7408C>G (p.Leu2470Val)
NM_001371986.1(UNC80):c.7412C>T (p.Ala2471Val)
NM_001371986.1(UNC80):c.7418C>A (p.Ser2473Tyr)
NM_001371986.1(UNC80):c.7422A>G (p.Leu2474=)
NM_001371986.1(UNC80):c.7429del (p.Leu2477fs) rs1559387347
NM_001371986.1(UNC80):c.7447G>A (p.Val2483Ile)
NM_001371986.1(UNC80):c.7452C>A (p.Leu2484=)
NM_001371986.1(UNC80):c.7457+10T>C
NM_001371986.1(UNC80):c.7457+11T>C
NM_001371986.1(UNC80):c.7457+8C>G
NM_001371986.1(UNC80):c.7457+9A>C
NM_001371986.1(UNC80):c.7458-20G>A rs2124999322
NM_001371986.1(UNC80):c.7465A>G (p.Thr2489Ala)
NM_001371986.1(UNC80):c.7493A>C (p.Gln2498Pro)
NM_001371986.1(UNC80):c.7506A>G (p.Gly2502=) rs1575142382
NM_001371986.1(UNC80):c.7526C>T (p.Thr2509Ile) rs2124999399
NM_001371986.1(UNC80):c.7527C>T (p.Thr2509=)
NM_001371986.1(UNC80):c.7539G>A (p.Gly2513=)
NM_001371986.1(UNC80):c.753A>G (p.Gln251=)
NM_001371986.1(UNC80):c.7545C>T (p.Asn2515=)
NM_001371986.1(UNC80):c.7550+18_7550+20dup
NM_001371986.1(UNC80):c.7550+20T>G
NM_001371986.1(UNC80):c.7550+9C>T
NM_001371986.1(UNC80):c.7551-14T>C rs2125000665
NM_001371986.1(UNC80):c.7551-1G>C
NM_001371986.1(UNC80):c.7551-9G>A
NM_001371986.1(UNC80):c.7561C>G (p.Gln2521Glu)
NM_001371986.1(UNC80):c.757C>G (p.Arg253Gly) rs781448010
NM_001371986.1(UNC80):c.757C>T (p.Arg253Trp) rs781448010
NM_001371986.1(UNC80):c.7586+10G>A
NM_001371986.1(UNC80):c.7586+20A>G
NM_001371986.1(UNC80):c.7586+5A>C rs759668606
NM_001371986.1(UNC80):c.7586+5A>G rs759668606
NM_001371986.1(UNC80):c.7587-5C>T rs2125001044
NM_001371986.1(UNC80):c.7587-7T>C
NM_001371986.1(UNC80):c.7587G>A (p.Arg2529=)
NM_001371986.1(UNC80):c.7593C>T (p.Asn2531=)
NM_001371986.1(UNC80):c.7614G>A (p.Gly2538=)
NM_001371986.1(UNC80):c.7620C>T (p.Gly2540=)
NM_001371986.1(UNC80):c.7627A>C (p.Arg2543=)
NM_001371986.1(UNC80):c.7636C>T (p.Leu2546=)
NM_001371986.1(UNC80):c.7645C>T (p.Arg2549Ter) rs2092524250
NM_001371986.1(UNC80):c.7653T>C (p.Ala2551=)
NM_001371986.1(UNC80):c.7654C>T (p.Arg2552Trp)
NM_001371986.1(UNC80):c.7661A>G (p.Glu2554Gly) rs2125001105
NM_001371986.1(UNC80):c.7662G>A (p.Glu2554=)
NM_001371986.1(UNC80):c.7674C>T (p.Pro2558=)
NM_001371986.1(UNC80):c.7685T>C (p.Leu2562Ser) rs2125001140
NM_001371986.1(UNC80):c.7699A>T (p.Thr2567Ser) rs2125001147
NM_001371986.1(UNC80):c.7700C>A (p.Thr2567Asn) rs2125001148
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001371986.1(UNC80):c.7707C>A (p.Phe2569Leu)
NM_001371986.1(UNC80):c.7722G>T (p.Gly2574=)
NM_001371986.1(UNC80):c.7726C>T (p.Arg2576Trp)
NM_001371986.1(UNC80):c.7728G>T (p.Arg2576=)
NM_001371986.1(UNC80):c.7752T>C (p.Ala2584=)
NM_001371986.1(UNC80):c.7752T>G (p.Ala2584=)
NM_001371986.1(UNC80):c.7754G>A (p.Gly2585Glu)
NM_001371986.1(UNC80):c.7759C>T (p.Pro2587Ser)
NM_001371986.1(UNC80):c.7761T>G (p.Pro2587=)
NM_001371986.1(UNC80):c.7763G>A (p.Arg2588Gln) rs1396239022
NM_001371986.1(UNC80):c.777T>C (p.Asn259=)
NM_001371986.1(UNC80):c.7782dup (p.Leu2595fs)
NM_001371986.1(UNC80):c.7783C>T (p.Leu2595=)
NM_001371986.1(UNC80):c.7788T>C (p.Asp2596=)
NM_001371986.1(UNC80):c.7797T>G (p.Ser2599=)
NM_001371986.1(UNC80):c.7801A>T (p.Met2601Leu) rs1225972802
NM_001371986.1(UNC80):c.7805+12G>A rs780100467
NM_001371986.1(UNC80):c.7805+12G>T rs780100467
NM_001371986.1(UNC80):c.7805+7G>A rs2125001327
NM_001371986.1(UNC80):c.7806-11A>G
NM_001371986.1(UNC80):c.7806-14T>C
NM_001371986.1(UNC80):c.7806-16T>C
NM_001371986.1(UNC80):c.7806-17AT[5]
NM_001371986.1(UNC80):c.7806-17AT[7] rs752949976
NM_001371986.1(UNC80):c.7806-17AT[8] rs752949976
NM_001371986.1(UNC80):c.7806-5T>A
NM_001371986.1(UNC80):c.7806-7_7806-4del
NM_001371986.1(UNC80):c.7824C>T (p.His2608=)
NM_001371986.1(UNC80):c.7837C>T (p.Leu2613=)
NM_001371986.1(UNC80):c.783T>A (p.Asp261Glu) rs375846737
NM_001371986.1(UNC80):c.783T>C (p.Asp261=) rs375846737
NM_001371986.1(UNC80):c.7851C>T (p.Asp2617=)
NM_001371986.1(UNC80):c.7855C>A (p.Gln2619Lys) rs2125008959
NM_001371986.1(UNC80):c.7856A>C (p.Gln2619Pro) rs918114184
NM_001371986.1(UNC80):c.7856A>T (p.Gln2619Leu)
NM_001371986.1(UNC80):c.7862T>G (p.Met2621Arg) rs2125008969
NM_001371986.1(UNC80):c.7869T>C (p.Ser2623=)
NM_001371986.1(UNC80):c.7871G>T (p.Arg2624Leu)
NM_001371986.1(UNC80):c.7890C>T (p.Ile2630=)
NM_001371986.1(UNC80):c.7891A>G (p.Met2631Val)
NM_001371986.1(UNC80):c.7892T>C (p.Met2631Thr)
NM_001371986.1(UNC80):c.7899G>A (p.Met2633Ile)
NM_001371986.1(UNC80):c.7921G>A (p.Ala2641Thr) rs1214117176
NM_001371986.1(UNC80):c.7935G>A (p.Arg2645=)
NM_001371986.1(UNC80):c.7938G>A (p.Pro2646=) rs750175498
NM_001371986.1(UNC80):c.7938G>T (p.Pro2646=)
NM_001371986.1(UNC80):c.7948C>G (p.Leu2650Val) rs1185761554
NM_001371986.1(UNC80):c.798+14A>G rs1229651834
NM_001371986.1(UNC80):c.798+16T>C
NM_001371986.1(UNC80):c.798+17C>A
NM_001371986.1(UNC80):c.798+18A>G
NM_001371986.1(UNC80):c.798+19T>C
NM_001371986.1(UNC80):c.798G>A (p.Glu266=) rs2153825479
NM_001371986.1(UNC80):c.799-11del
NM_001371986.1(UNC80):c.799-13C>T
NM_001371986.1(UNC80):c.8006+15G>T rs754985794
NM_001371986.1(UNC80):c.8007-14A>G rs2125010988
NM_001371986.1(UNC80):c.8007-18_8007-17delinsTT rs2125010971
NM_001371986.1(UNC80):c.8007-19C>T
NM_001371986.1(UNC80):c.8008C>T (p.Arg2670Ter)
NM_001371986.1(UNC80):c.8009G>A (p.Arg2670Gln) rs1316184195
NM_001371986.1(UNC80):c.8013G>T (p.Gln2671His)
NM_001371986.1(UNC80):c.8014G>A (p.Val2672Ile)
NM_001371986.1(UNC80):c.8043T>A (p.Ile2681=)
NM_001371986.1(UNC80):c.804C>T (p.Leu268=)
NM_001371986.1(UNC80):c.8061A>C (p.Thr2687=) rs1442403013
NM_001371986.1(UNC80):c.8091G>A (p.Leu2697=)
NM_001371986.1(UNC80):c.8103G>A (p.Arg2701=) rs1559414483
NM_001371986.1(UNC80):c.8109G>T (p.Leu2703=) rs2125011075
NM_001371986.1(UNC80):c.8120G>T (p.Cys2707Phe)
NM_001371986.1(UNC80):c.8124C>T (p.Val2708=)
NM_001371986.1(UNC80):c.8130+15G>T
NM_001371986.1(UNC80):c.8130+16G>T
NM_001371986.1(UNC80):c.8130+20T>G
NM_001371986.1(UNC80):c.8130+8G>T rs2125011096
NM_001371986.1(UNC80):c.8131-9G>T
NM_001371986.1(UNC80):c.813T>C (p.Val271=) rs2153825776
NM_001371986.1(UNC80):c.8143G>T (p.Val2715Leu)
NM_001371986.1(UNC80):c.8160T>G (p.Val2720=)
NM_001371986.1(UNC80):c.8175C>A (p.Pro2725=)
NM_001371986.1(UNC80):c.8175C>T (p.Pro2725=)
NM_001371986.1(UNC80):c.8197C>T (p.Leu2733Phe)
NM_001371986.1(UNC80):c.8209C>G (p.Leu2737Val)
NM_001371986.1(UNC80):c.820del (p.Thr274fs) rs2153825777
NM_001371986.1(UNC80):c.8211G>A (p.Leu2737=) rs2125011980
NM_001371986.1(UNC80):c.8226T>C (p.Ala2742=)
NM_001371986.1(UNC80):c.8233C>T (p.Arg2745Trp)
NM_001371986.1(UNC80):c.8234G>A (p.Arg2745Gln)
NM_001371986.1(UNC80):c.8249A>C (p.Gln2750Pro) rs2092866354
NM_001371986.1(UNC80):c.8256+11C>G
NM_001371986.1(UNC80):c.8257-9_8257-8delinsTA rs2125013131
NM_001371986.1(UNC80):c.8269G>T (p.Asp2757Tyr) rs1553619640
NM_001371986.1(UNC80):c.827A>G (p.Gln276Arg) rs756506394
NM_001371986.1(UNC80):c.8289G>A (p.Val2763=)
NM_001371986.1(UNC80):c.8298A>T (p.Pro2766=) rs2125013164
NM_001371986.1(UNC80):c.82C>A (p.Arg28=)
NM_001371986.1(UNC80):c.8304C>T (p.Thr2768=) rs1575183592
NM_001371986.1(UNC80):c.8313G>A (p.Glu2771=)
NM_001371986.1(UNC80):c.8314C>A (p.Arg2772=) rs1575183610
NM_001371986.1(UNC80):c.8321A>T (p.Glu2774Val) rs2125013184
NM_001371986.1(UNC80):c.8322G>A (p.Glu2774=)
NM_001371986.1(UNC80):c.8323G>T (p.Gly2775Trp)
NM_001371986.1(UNC80):c.8325G>A (p.Gly2775=)
NM_001371986.1(UNC80):c.8358C>G (p.Leu2786=) rs2125013208
NM_001371986.1(UNC80):c.8360C>T (p.Thr2787Ile)
NM_001371986.1(UNC80):c.8380+1G>T rs2125013239
NM_001371986.1(UNC80):c.8380+5_8380+8dup
NM_001371986.1(UNC80):c.8380G>C (p.Asp2794His) rs2125013237
NM_001371986.1(UNC80):c.8381-8C>T
NM_001371986.1(UNC80):c.8387C>T (p.Pro2796Leu) rs2125013860
NM_001371986.1(UNC80):c.8388A>G (p.Pro2796=)
NM_001371986.1(UNC80):c.8394G>A (p.Leu2798=)
NM_001371986.1(UNC80):c.8400G>A (p.Gln2800=)
NM_001371986.1(UNC80):c.8406G>A (p.Glu2802=)
NM_001371986.1(UNC80):c.8415G>A (p.Leu2805=)
NM_001371986.1(UNC80):c.8415G>T (p.Leu2805=)
NM_001371986.1(UNC80):c.8416C>T (p.Leu2806=)
NM_001371986.1(UNC80):c.8427A>G (p.Thr2809=)
NM_001371986.1(UNC80):c.8435A>G (p.Asn2812Ser)
NM_001371986.1(UNC80):c.8436T>C (p.Asn2812=)
NM_001371986.1(UNC80):c.8440C>G (p.Leu2814Val)
NM_001371986.1(UNC80):c.8457C>T (p.Ile2819=)
NM_001371986.1(UNC80):c.8465C>T (p.Thr2822Ile)
NM_001371986.1(UNC80):c.847A>G (p.Lys283Glu)
NM_001371986.1(UNC80):c.8486T>C (p.Met2829Thr)
NM_001371986.1(UNC80):c.8487G>C (p.Met2829Ile)
NM_001371986.1(UNC80):c.8494_8495dup (p.Ser2832fs)
NM_001371986.1(UNC80):c.8511C>A (p.Cys2837Ter) rs2092926604
NM_001371986.1(UNC80):c.8529G>A (p.Ala2843=)
NM_001371986.1(UNC80):c.8541G>A (p.Leu2847=)
NM_001371986.1(UNC80):c.854C>T (p.Thr285Ile) rs912341881
NM_001371986.1(UNC80):c.8556G>C (p.Leu2852=)
NM_001371986.1(UNC80):c.8570G>A (p.Ser2857Asn)
NM_001371986.1(UNC80):c.8577A>G (p.Ala2859=)
NM_001371986.1(UNC80):c.8587+10_8587+13dup rs979982373
NM_001371986.1(UNC80):c.8587+11TC[5] rs141804658
NM_001371986.1(UNC80):c.8587+11TC[6]
NM_001371986.1(UNC80):c.8587+11TC[7]
NM_001371986.1(UNC80):c.8587+11TC[9] rs141804658
NM_001371986.1(UNC80):c.8587+12del rs2125014053
NM_001371986.1(UNC80):c.8587+18C>G
NM_001371986.1(UNC80):c.8587+8C>T
NM_001371986.1(UNC80):c.8588-10C>T
NM_001371986.1(UNC80):c.8588-17C>G rs761381204
NM_001371986.1(UNC80):c.8588-17C>T
NM_001371986.1(UNC80):c.8588-2A>G
NM_001371986.1(UNC80):c.8588-9G>C
NM_001371986.1(UNC80):c.8588C>T (p.Ala2863Val)
NM_001371986.1(UNC80):c.8596G>A (p.Val2866Met)
NM_001371986.1(UNC80):c.8598G>T (p.Val2866=)
NM_001371986.1(UNC80):c.8615A>G (p.Glu2872Gly) rs946064479
NM_001371986.1(UNC80):c.8625C>G (p.Leu2875=)
NM_001371986.1(UNC80):c.8625C>T (p.Leu2875=)
NM_001371986.1(UNC80):c.8641T>C (p.Trp2881Arg)
NM_001371986.1(UNC80):c.8673G>A (p.Leu2891=)
NM_001371986.1(UNC80):c.8676G>C (p.Arg2892=)
NM_001371986.1(UNC80):c.867T>C (p.Cys289=)
NM_001371986.1(UNC80):c.8694C>A (p.Ala2898=)
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs) rs886043644
NM_001371986.1(UNC80):c.8716A>C (p.Ile2906Leu) rs2125016845
NM_001371986.1(UNC80):c.871C>T (p.Arg291Ter)
NM_001371986.1(UNC80):c.8730A>C (p.Arg2910=) rs1301926483
NM_001371986.1(UNC80):c.8745G>A (p.Val2915=) rs2125016897
NM_001371986.1(UNC80):c.8751G>A (p.Leu2917=) rs2125016901
NM_001371986.1(UNC80):c.8753G>A (p.Arg2918His)
NM_001371986.1(UNC80):c.8772+1G>A rs2125016932
NM_001371986.1(UNC80):c.8772+1G>T
NM_001371986.1(UNC80):c.8773-12C>T
NM_001371986.1(UNC80):c.8776C>T (p.Leu2926=)
NM_001371986.1(UNC80):c.8780C>T (p.Ala2927Val)
NM_001371986.1(UNC80):c.8784A>G (p.Gln2928=)
NM_001371986.1(UNC80):c.8806C>A (p.Leu2936Ile)
NM_001371986.1(UNC80):c.8808T>G (p.Leu2936=) rs2093029372
NM_001371986.1(UNC80):c.8812G>A (p.Ala2938Thr) rs2093029496
NM_001371986.1(UNC80):c.8815C>T (p.Arg2939Trp) rs942370327
NM_001371986.1(UNC80):c.8822A>G (p.His2941Arg) rs2093029810
NM_001371986.1(UNC80):c.8822A>T (p.His2941Leu) rs2093029810
NM_001371986.1(UNC80):c.8829C>T (p.Ala2943=) rs947131639
NM_001371986.1(UNC80):c.8845C>T (p.Arg2949Cys)
NM_001371986.1(UNC80):c.884T>C (p.Phe295Ser)
NM_001371986.1(UNC80):c.8853A>T (p.Ile2951=)
NM_001371986.1(UNC80):c.8857C>A (p.Arg2953Ser)
NM_001371986.1(UNC80):c.8861C>G (p.Pro2954Arg)
NM_001371986.1(UNC80):c.8865G>T (p.Leu2955Phe)
NM_001371986.1(UNC80):c.8877G>A (p.Ser2959=)
NM_001371986.1(UNC80):c.8900A>G (p.Glu2967Gly)
NM_001371986.1(UNC80):c.8908del (p.Ile2970fs)
NM_001371986.1(UNC80):c.8919G>C (p.Glu2973Asp)
NM_001371986.1(UNC80):c.8928T>G (p.His2976Gln)
NM_001371986.1(UNC80):c.8933G>C (p.Gly2978Ala)
NM_001371986.1(UNC80):c.8934A>T (p.Gly2978=)
NM_001371986.1(UNC80):c.8938+15G>C
NM_001371986.1(UNC80):c.8938+16A>G
NM_001371986.1(UNC80):c.8939-14C>G
NM_001371986.1(UNC80):c.8939-16C>G
NM_001371986.1(UNC80):c.8939-17T>C
NM_001371986.1(UNC80):c.8939-1G>A
NM_001371986.1(UNC80):c.8939-9A>G rs944939342
NM_001371986.1(UNC80):c.8940dup (p.Tyr2981fs) rs2125019136
NM_001371986.1(UNC80):c.8948G>A (p.Gly2983Asp) rs1316752442
NM_001371986.1(UNC80):c.8973C>T (p.Gly2991=)
NM_001371986.1(UNC80):c.8982C>T (p.Thr2994=) rs1329951964
NM_001371986.1(UNC80):c.8997G>C (p.Leu2999=)
NM_001371986.1(UNC80):c.9004G>A (p.Ala3002Thr)
NM_001371986.1(UNC80):c.9008C>G (p.Thr3003Ser) rs2125019220
NM_001371986.1(UNC80):c.9010A>G (p.Met3004Val)
NM_001371986.1(UNC80):c.9013T>A (p.Ser3005Thr) rs2093072337
NM_001371986.1(UNC80):c.9017G>T (p.Arg3006Leu) rs371059292
NM_001371986.1(UNC80):c.9019T>C (p.Ser3007Pro)
NM_001371986.1(UNC80):c.9036C>T (p.Gly3012=)
NM_001371986.1(UNC80):c.9042C>A (p.Val3014=)
NM_001371986.1(UNC80):c.9054C>G (p.Asp3018Glu)
NM_001371986.1(UNC80):c.9055A>C (p.Ser3019Arg) rs2125019292
NM_001371986.1(UNC80):c.9078G>T (p.Ser3026=)
NM_001371986.1(UNC80):c.9088C>T (p.Leu3030=)
NM_001371986.1(UNC80):c.9094C>G (p.Arg3032Gly)
NM_001371986.1(UNC80):c.90C>T (p.Thr30=)
NM_001371986.1(UNC80):c.9102T>C (p.Asp3034=) rs112227859
NM_001371986.1(UNC80):c.9103G>A (p.Glu3035Lys)
NM_001371986.1(UNC80):c.9111T>C (p.Asp3037=)
NM_001371986.1(UNC80):c.9118+10T>C
NM_001371986.1(UNC80):c.9118+12C>T rs2093076093
NM_001371986.1(UNC80):c.9118+18A>C
NM_001371986.1(UNC80):c.9118+20C>G
NM_001371986.1(UNC80):c.9118+4G>A
NM_001371986.1(UNC80):c.9118+4G>T
NM_001371986.1(UNC80):c.9119-19A>G
NM_001371986.1(UNC80):c.9119-1_9119insGAG rs1559437278
NM_001371986.1(UNC80):c.9119-8C>T
NM_001371986.1(UNC80):c.9127A>G (p.Ile3043Val)
NM_001371986.1(UNC80):c.9132C>T (p.Ser3044=)
NM_001371986.1(UNC80):c.9144G>T (p.Val3048=)
NM_001371986.1(UNC80):c.9147A>G (p.Val3049=)
NM_001371986.1(UNC80):c.9148A>G (p.Ser3050Gly) rs2125023017
NM_001371986.1(UNC80):c.9159A>C (p.Glu3053Asp) rs2125023022
NM_001371986.1(UNC80):c.9167T>C (p.Leu3056Pro) rs2125023031
NM_001371986.1(UNC80):c.9168C>T (p.Leu3056=)
NM_001371986.1(UNC80):c.9188G>A (p.Arg3063Lys)
NM_001371986.1(UNC80):c.9195C>T (p.Phe3065=)
NM_001371986.1(UNC80):c.92+10G>A
NM_001371986.1(UNC80):c.92+5G>T
NM_001371986.1(UNC80):c.92+8G>T
NM_001371986.1(UNC80):c.9209C>T (p.Ser3070Phe)
NM_001371986.1(UNC80):c.9222A>G (p.Val3074=)
NM_001371986.1(UNC80):c.9228G>A (p.Gln3076=)
NM_001371986.1(UNC80):c.9238G>A (p.Gly3080Ser) rs2125023131
NM_001371986.1(UNC80):c.9241A>C (p.Met3081Leu)
NM_001371986.1(UNC80):c.9255G>A (p.Gln3085=)
NM_001371986.1(UNC80):c.9257+14G>A rs1400178679
NM_001371986.1(UNC80):c.9257+14G>C
NM_001371986.1(UNC80):c.9257+17A>G
NM_001371986.1(UNC80):c.9257G>T (p.Ser3086Ile)
NM_001371986.1(UNC80):c.9258-10C>T rs2125025520
NM_001371986.1(UNC80):c.9258-15C>G rs1306419658
NM_001371986.1(UNC80):c.925C>T (p.Pro309Ser)
NM_001371986.1(UNC80):c.9272T>G (p.Leu3091Arg) rs2125025530
NM_001371986.1(UNC80):c.9273C>T (p.Leu3091=)
NM_001371986.1(UNC80):c.9284A>G (p.Gln3095Arg) rs1434592182
NM_001371986.1(UNC80):c.9286G>A (p.Gly3096Ser) rs2125025544
NM_001371986.1(UNC80):c.93-13A>G
NM_001371986.1(UNC80):c.93-13A>T
NM_001371986.1(UNC80):c.93-15C>G
NM_001371986.1(UNC80):c.93-18T>C rs2153824388
NM_001371986.1(UNC80):c.93-8T>C
NM_001371986.1(UNC80):c.9303C>A (p.Gly3101=)
NM_001371986.1(UNC80):c.9311C>G (p.Ser3104Cys)
NM_001371986.1(UNC80):c.9314+8G>C
NM_001371986.1(UNC80):c.9315-13T>C
NM_001371986.1(UNC80):c.9315-17C>A rs1397892461
NM_001371986.1(UNC80):c.9318G>A (p.Val3106=)
NM_001371986.1(UNC80):c.9324T>C (p.Ser3108=)
NM_001371986.1(UNC80):c.9345A>G (p.Gln3115=)
NM_001371986.1(UNC80):c.9350_9356del (p.Asn3117fs) rs2125032555
NM_001371986.1(UNC80):c.9351C>G (p.Asn3117Lys)
NM_001371986.1(UNC80):c.9359T>G (p.Val3120Gly)
NM_001371986.1(UNC80):c.9368C>T (p.Pro3123Leu)
NM_001371986.1(UNC80):c.938+2T>C
NM_001371986.1(UNC80):c.938+8A>T rs2153825793
NM_001371986.1(UNC80):c.938+9T>C
NM_001371986.1(UNC80):c.938G>A (p.Arg313Lys) rs2153825790
NM_001371986.1(UNC80):c.939-18_939-16del
NM_001371986.1(UNC80):c.939-1G>A
NM_001371986.1(UNC80):c.9393G>A (p.Arg3131=)
NM_001371986.1(UNC80):c.9396+11C>G
NM_001371986.1(UNC80):c.9396+19C>G
NM_001371986.1(UNC80):c.9397-11A>G
NM_001371986.1(UNC80):c.9397-15G>A
NM_001371986.1(UNC80):c.9397-17C>T
NM_001371986.1(UNC80):c.9404G>A (p.Arg3135His)
NM_001371986.1(UNC80):c.9407C>T (p.Pro3136Leu)
NM_001371986.1(UNC80):c.9408T>A (p.Pro3136=)
NM_001371986.1(UNC80):c.9409C>G (p.Leu3137Val)
NM_001371986.1(UNC80):c.9441C>G (p.Pro3147=)
NM_001371986.1(UNC80):c.9450C>G (p.Arg3150=)
NM_001371986.1(UNC80):c.9458C>T (p.Ala3153Val)
NM_001371986.1(UNC80):c.9460C>G (p.Arg3154Gly) rs374932020
NM_001371986.1(UNC80):c.9460C>T (p.Arg3154Trp) rs374932020
NM_001371986.1(UNC80):c.9461G>A (p.Arg3154Gln)
NM_001371986.1(UNC80):c.9495A>G (p.Lys3165=)
NM_001371986.1(UNC80):c.9501G>A (p.Lys3167=)
NM_001371986.1(UNC80):c.9502C>G (p.Pro3168Ala) rs2125033859
NM_001371986.1(UNC80):c.9508+13G>A
NM_001371986.1(UNC80):c.9508+15G>A
NM_001371986.1(UNC80):c.9508+15_9508+16del
NM_001371986.1(UNC80):c.9508+7C>T
NM_001371986.1(UNC80):c.9509-20T>C
NM_001371986.1(UNC80):c.9509-4G>C
NM_001371986.1(UNC80):c.950T>A (p.Val317Glu)
NM_001371986.1(UNC80):c.9510G>T (p.Ala3170=)
NM_001371986.1(UNC80):c.9521G>A (p.Arg3174Gln)
NM_001371986.1(UNC80):c.9522A>G (p.Arg3174=)
NM_001371986.1(UNC80):c.9525T>C (p.Ser3175=)
NM_001371986.1(UNC80):c.9540G>T (p.Glu3180Asp)
NM_001371986.1(UNC80):c.9552G>A (p.Glu3184=)
NM_001371986.1(UNC80):c.9555A>T (p.Pro3185=)
NM_001371986.1(UNC80):c.9564C>T (p.Ala3188=)
NM_001371986.1(UNC80):c.9575C>T (p.Ala3192Val)
NM_001371986.1(UNC80):c.9577C>T (p.Leu3193Phe)
NM_001371986.1(UNC80):c.9586A>G (p.Thr3196Ala) rs1313550263
NM_001371986.1(UNC80):c.9587C>G (p.Thr3196Arg) rs750328362
NM_001371986.1(UNC80):c.9601G>A (p.Gly3201Ser)
NM_001371986.1(UNC80):c.9608G>A (p.Ser3203Asn)
NM_001371986.1(UNC80):c.9612_9615dup (p.Pro3206fs)
NM_001371986.1(UNC80):c.9621T>C (p.Ser3207=)
NM_001371986.1(UNC80):c.9622A>G (p.Arg3208Gly)
NM_001371986.1(UNC80):c.962G>T (p.Cys321Phe)
NM_001371986.1(UNC80):c.9637A>G (p.Met3213Val)
NM_001371986.1(UNC80):c.963C>T (p.Cys321=) rs1322416434
NM_001371986.1(UNC80):c.9642C>T (p.Asp3214=)
NM_001371986.1(UNC80):c.9643G>T (p.Glu3215Ter)
NM_001371986.1(UNC80):c.9658T>C (p.Ser3220Pro)
NM_001371986.1(UNC80):c.9663T>C (p.Ser3221=)
NM_001371986.1(UNC80):c.9673G>A (p.Val3225Ile)
NM_001371986.1(UNC80):c.9678T>G (p.Val3226=)
NM_001371986.1(UNC80):c.9679_9697del (p.Ala3227fs) rs2125034865
NM_001371986.1(UNC80):c.9681G>A (p.Ala3227=)
NM_001371986.1(UNC80):c.9682G>A (p.Asp3228Asn)
NM_001371986.1(UNC80):c.9693C>T (p.Ser3231=)
NM_001371986.1(UNC80):c.9702C>T (p.Pro3234=) rs937166714
NM_001371986.1(UNC80):c.9708+12A>G
NM_001371986.1(UNC80):c.9708+13G>T
NM_001371986.1(UNC80):c.9708+1G>A
NM_001371986.1(UNC80):c.9710G>A (p.Ser3237Asn)
NM_001371986.1(UNC80):c.9718T>C (p.Phe3240Leu) rs2125036016
NM_001371986.1(UNC80):c.9722C>G (p.Pro3241Arg)
NM_001371986.1(UNC80):c.9724A>G (p.Thr3242Ala)
NM_001371986.1(UNC80):c.9742G>A (p.Glu3248Lys)
NM_001371986.1(UNC80):c.9742G>C (p.Glu3248Gln)
NM_001371986.1(UNC80):c.974G>A (p.Arg325His)
NM_001371986.1(UNC80):c.975C>G (p.Arg325=)
NM_001371986.1(UNC80):c.975C>T (p.Arg325=)
NM_001371986.1(UNC80):c.9765_9766dup (p.Ala3256fs)
NM_001371986.1(UNC80):c.9782C>T (p.Pro3261Leu)
NM_001371986.1(UNC80):c.9786C>T (p.Leu3262=)
NM_001371986.1(UNC80):c.9810T>C (p.Asp3270=)
NM_001371986.1(UNC80):c.9816C>T (p.Phe3272=)
NM_001371986.1(UNC80):c.9843A>T (p.Leu3281=)
NM_001371986.1(UNC80):c.9849T>C (p.His3283=)
NM_001371986.1(UNC80):c.984C>T (p.Thr328=) rs2153827284
NM_001371986.1(UNC80):c.9856A>G (p.Thr3286Ala)
NM_001371986.1(UNC80):c.9858T>C (p.Thr3286=)
NM_001371986.1(UNC80):c.9875A>G (p.Glu3292Gly) rs2093470142
NM_001371986.1(UNC80):c.9879_9881del (p.Glu3293_Asn3294delinsAsp)
NM_001371986.1(UNC80):c.9881A>G (p.Asn3294Ser) rs2125036261
NM_001371986.1(UNC80):c.9892A>G (p.Asn3298Asp)
NM_001371986.1(UNC80):c.9894C>T (p.Asn3298=)
NM_001371986.1(UNC80):c.9901C>T (p.Leu3301=)
NM_001371986.1(UNC80):c.9909T>C (p.Ser3303=)
NM_001371986.1(UNC80):c.9950C>A (p.Ala3317Glu)
NM_001371986.1(UNC80):c.9958G>A (p.Asp3320Asn) rs2093472113
NM_001371986.1(UNC80):c.996T>C (p.Val332=)

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