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: 1902
Download table as spreadsheet
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.3455-13A>G rs2191906 0.19284
NM_001371986.1(UNC80):c.3333C>G (p.Leu1111=) rs10178675 0.17606
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.2012G>A (p.Arg671His) rs990004372 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.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_?)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.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.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.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+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.1201-12_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.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.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.142-3C>T rs2153824558
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.1513C>A (p.Arg505=)
NM_001371986.1(UNC80):c.152G>A (p.Arg51Gln) rs1359174506
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.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.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.174G>T (p.Leu58=) rs761790112
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.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.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.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.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.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.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+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.2518A>T (p.Met840Leu)
NM_001371986.1(UNC80):c.2523G>T (p.Gln841His)
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.2632G>T (p.Ala878Ser)
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.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.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+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.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.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+3T>C
NM_001371986.1(UNC80):c.299-10T>G
NM_001371986.1(UNC80):c.299-13T>G rs2076919378
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.3042-15T>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.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.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.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.3435G>T (p.Glu1145Asp)
NM_001371986.1(UNC80):c.3444C>T (p.Phe1148=)
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.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.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.372C>G (p.Pro124=)
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.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.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.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.4111-18T>G
NM_001371986.1(UNC80):c.4111-19C>G
NM_001371986.1(UNC80):c.4111G>T (p.Asp1371Tyr)
NM_001371986.1(UNC80):c.4127G>T (p.Arg1376Ile)
NM_001371986.1(UNC80):c.4137G>A (p.Leu1379=)
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>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.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+5G>T rs2086801801
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.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.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.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+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.4793A>G (p.Lys1598Arg) rs2124941394
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.4891-12A>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.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.5344-17C>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.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.5499A>T (p.Thr1833=)
NM_001371986.1(UNC80):c.5505G>C (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+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.5531-5G>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.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.564C>T (p.Phe188=)
NM_001371986.1(UNC80):c.5656G>A (p.Ala1886Thr)
NM_001371986.1(UNC80):c.5662+19G>A
NM_001371986.1(UNC80):c.5662+19G>C
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.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+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.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.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.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.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.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.6179-11A>C
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>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.6350T>C (p.Ile2117Thr) rs750862679
NM_001371986.1(UNC80):c.6363+10del
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.6364-5C>T rs965751695
NM_001371986.1(UNC80):c.6364-6A>C
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.6433C>A (p.Pro2145Thr)
NM_001371986.1(UNC80):c.6433C>T (p.Pro2145Ser)
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.6466-6C>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.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.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.6645_6646+3dup rs1263562958
NM_001371986.1(UNC80):c.6646+20T>G rs2124976853
NM_001371986.1(UNC80):c.6646+2_6646+3insTTGATCCTCAAG
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.676G>A (p.Val226Ile)
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.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.6916-8T>G
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.6947T>A (p.Leu2316Gln)
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.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.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.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.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.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+20A>C
NM_001371986.1(UNC80):c.725-11del
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.7457+11T>C
NM_001371986.1(UNC80):c.7457+8C>G
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.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+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+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.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.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.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.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.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.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.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.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.8511C>A (p.Cys2837Ter) rs2092926604
NM_001371986.1(UNC80):c.8529G>A (p.Ala2843=)
NM_001371986.1(UNC80):c.854C>T (p.Thr285Ile) rs912341881
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.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.8588-9G>C
NM_001371986.1(UNC80):c.8588C>T (p.Ala2863Val)
NM_001371986.1(UNC80):c.8596G>A (p.Val2866Met)
NM_001371986.1(UNC80):c.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.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.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.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.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+16A>G
NM_001371986.1(UNC80):c.8939-14C>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.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+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.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.92+10G>A
NM_001371986.1(UNC80):c.92+5G>T
NM_001371986.1(UNC80):c.92+8G>T
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+17A>G
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.93-18T>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.9315-17C>A rs1397892461
NM_001371986.1(UNC80):c.9318G>A (p.Val3106=)
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.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.939-1G>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.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+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.9540G>T (p.Glu3180Asp)
NM_001371986.1(UNC80):c.9552G>A (p.Glu3184=)
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.9679_9697del (p.Ala3227fs) rs2125034865
NM_001371986.1(UNC80):c.9681G>A (p.Ala3227=)
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.975C>G (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.9810T>C (p.Asp3270=)
NM_001371986.1(UNC80):c.9816C>T (p.Phe3272=)
NM_001371986.1(UNC80):c.9849T>C (p.His3283=)
NM_001371986.1(UNC80):c.984C>T (p.Thr328=) rs2153827284
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.9950C>A (p.Ala3317Glu)
NM_001371986.1(UNC80):c.9958G>A (p.Asp3320Asn) rs2093472113
NM_001371986.1(UNC80):c.996T>C (p.Val332=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.