ClinVar Miner

List of variants in gene UNC80 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 804
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) rs192242889 0.00168
NM_001371986.1(UNC80):c.3428A>C (p.Glu1143Ala) rs78912192 0.00063
NM_001371986.1(UNC80):c.840C>G (p.Ile280Met) rs142126808 0.00043
NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile) rs372195299 0.00036
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) rs144011305 0.00028
NM_001371986.1(UNC80):c.1313T>C (p.Leu438Pro) rs200743585 0.00023
NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys) rs199783352 0.00023
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.9888G>C (p.Met3296Ile) rs200723471 0.00017
NM_001371986.1(UNC80):c.8719G>A (p.Val2907Met) rs758252802 0.00015
NM_001371986.1(UNC80):c.8461A>G (p.Ser2821Gly) rs201695718 0.00014
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.8027C>T (p.Pro2676Leu) rs750290879 0.00011
NM_001371986.1(UNC80):c.3536G>A (p.Arg1179Gln) rs753202029 0.00010
NM_001371986.1(UNC80):c.6721G>A (p.Gly2241Ser) rs764166622 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.8795A>C (p.Asn2932Thr) rs771284860 0.00009
NM_001371986.1(UNC80):c.4000G>A (p.Gly1334Ser) rs192000747 0.00008
NM_001371986.1(UNC80):c.2899G>T (p.Val967Leu) rs900681798 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.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.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.7883G>A (p.Arg2628His) rs538813438 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.1822A>G (p.Met608Val) rs369499490 0.00005
NM_001371986.1(UNC80):c.4762C>T (p.Arg1588Trp) rs1018832516 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.8324G>A (p.Gly2775Glu) rs543684178 0.00005
NM_001371986.1(UNC80):c.865T>C (p.Cys289Arg) rs773501072 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.2615C>T (p.Pro872Leu) rs368223888 0.00004
NM_001371986.1(UNC80):c.2951C>T (p.Ala984Val) rs776433985 0.00004
NM_001371986.1(UNC80):c.3031A>T (p.Thr1011Ser) rs953358458 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.4544C>T (p.Ala1515Val) rs750442854 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.5860A>G (p.Thr1954Ala) rs979654081 0.00004
NM_001371986.1(UNC80):c.6428T>C (p.Met2143Thr) rs751559981 0.00004
NM_001371986.1(UNC80):c.673G>A (p.Gly225Arg) rs774262237 0.00004
NM_001371986.1(UNC80):c.6772G>A (p.Val2258Ile) rs1161523752 0.00004
NM_001371986.1(UNC80):c.724+6T>G rs201376710 0.00004
NM_001371986.1(UNC80):c.7768A>G (p.Ile2590Val) rs915501062 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.8564C>A (p.Ser2855Tyr) rs1381093816 0.00004
NM_001371986.1(UNC80):c.8816G>A (p.Arg2939Gln) rs376313479 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.959C>T (p.Pro320Leu) rs1443827866 0.00004
NM_001371986.1(UNC80):c.9739_9741del (p.Lys3247del) rs796199021 0.00004
NM_001371986.1(UNC80):c.9867T>A (p.His3289Gln) rs201312129 0.00004
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.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.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.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.7525A>G (p.Thr2509Ala) rs1012948838 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.8014G>C (p.Val2672Leu) rs370951034 0.00003
NM_001371986.1(UNC80):c.938+5C>T rs780616201 0.00003
NM_001371986.1(UNC80):c.9448C>T (p.Arg3150Cys) rs868379708 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.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.1564C>T (p.Arg522Trp) rs779351755 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.2572G>A (p.Val858Ile) rs1028743724 0.00002
NM_001371986.1(UNC80):c.3088C>T (p.Arg1030Cys) rs1322289311 0.00002
NM_001371986.1(UNC80):c.3550C>T (p.Arg1184Cys) rs757342671 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.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.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.7112A>T (p.Gln2371Leu) rs776052035 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.9032C>T (p.Thr3011Met) rs1475238797 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.994G>A (p.Val332Ile) rs1005045171 0.00002
NM_001371986.1(UNC80):c.1064A>G (p.Tyr355Cys) rs779499410 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.1463C>T (p.Thr488Met) rs1222726962 0.00001
NM_001371986.1(UNC80):c.1465C>T (p.Arg489Cys) rs773432779 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.1756G>A (p.Val586Ile) rs1367491142 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.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.2176A>G (p.Thr726Ala) rs1416240323 0.00001
NM_001371986.1(UNC80):c.2213G>A (p.Gly738Glu) rs867486666 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.2528G>A (p.Arg843Gln) rs1157578030 0.00001
NM_001371986.1(UNC80):c.256C>T (p.Leu86Phe) rs1488820719 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.2776-3C>T rs1355480465 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.2933G>A (p.Gly978Asp) rs960864973 0.00001
NM_001371986.1(UNC80):c.299-10T>C rs371399930 0.00001
NM_001371986.1(UNC80):c.3089G>A (p.Arg1030His) rs994534779 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.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.373C>A (p.Gln125Lys) rs1420694982 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.4066G>A (p.Glu1356Lys) rs2085243122 0.00001
NM_001371986.1(UNC80):c.4094G>A (p.Arg1365His) rs1306650540 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.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.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.4771A>G (p.Lys1591Glu) rs925932377 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.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.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.5648C>T (p.Ala1883Val) rs1009754672 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.5995-3T>C rs1430836374 0.00001
NM_001371986.1(UNC80):c.5996T>C (p.Val1999Ala) rs984602297 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.6381T>G (p.Ile2127Met) rs1209611309 0.00001
NM_001371986.1(UNC80):c.6491T>C (p.Val2164Ala) rs1204306509 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.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.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.6950G>A (p.Arg2317His) rs1292203908 0.00001
NM_001371986.1(UNC80):c.6973C>T (p.His2325Tyr) rs1030090807 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.7135G>A (p.Asp2379Asn) rs1352460130 0.00001
NM_001371986.1(UNC80):c.723A>G (p.Thr241=) rs747807710 0.00001
NM_001371986.1(UNC80):c.7394C>T (p.Ala2465Val) rs866318243 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.7723C>T (p.Pro2575Ser) rs1180447213 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.8067G>C (p.Gln2689His) rs375090737 0.00001
NM_001371986.1(UNC80):c.8077A>G (p.Ile2693Val) rs913400163 0.00001
NM_001371986.1(UNC80):c.8287G>A (p.Val2763Met) rs1280225364 0.00001
NM_001371986.1(UNC80):c.8504C>G (p.Ala2835Gly) rs973038739 0.00001
NM_001371986.1(UNC80):c.8542C>T (p.Arg2848Cys) rs1171092863 0.00001
NM_001371986.1(UNC80):c.8587+6T>C rs1266482871 0.00001
NM_001371986.1(UNC80):c.8602C>G (p.Leu2868Val) rs1227642683 0.00001
NM_001371986.1(UNC80):c.8723G>A (p.Arg2908Gln) rs1255262851 0.00001
NM_001371986.1(UNC80):c.872G>A (p.Arg291Gln) rs146565598 0.00001
NM_001371986.1(UNC80):c.8797C>A (p.His2933Asn) rs775298626 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.8993G>A (p.Arg2998His) rs2093071670 0.00001
NM_001371986.1(UNC80):c.9026C>T (p.Thr3009Met) rs757257649 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.9094C>T (p.Arg3032Trp) rs1265367593 0.00001
NM_001371986.1(UNC80):c.911C>T (p.Ser304Phe) rs868686380 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.9497C>T (p.Thr3166Met) rs529047309 0.00001
NM_001371986.1(UNC80):c.950T>C (p.Val317Ala) rs1328151749 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.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.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
NM_001371986.1(UNC80):c.-52_45dup (p.Arg16Ter) rs2153824303
NM_001371986.1(UNC80):c.1007G>A (p.Arg336His)
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.1069C>G (p.Gln357Glu) rs2153827294
NM_001371986.1(UNC80):c.106C>G (p.Pro36Ala) rs2153824389
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.1133T>C (p.Leu378Pro) rs2079531450
NM_001371986.1(UNC80):c.1136C>A (p.Pro379His) rs1227553927
NM_001371986.1(UNC80):c.1141C>T (p.Pro381Ser)
NM_001371986.1(UNC80):c.1157T>C (p.Met386Thr)
NM_001371986.1(UNC80):c.1159G>A (p.Val387Met)
NM_001371986.1(UNC80):c.1171C>T (p.Pro391Ser) rs774259406
NM_001371986.1(UNC80):c.1180G>C (p.Val394Leu)
NM_001371986.1(UNC80):c.1201-10C>A rs1237127801
NM_001371986.1(UNC80):c.1208C>T (p.Thr403Ile)
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.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.131C>T (p.Ala44Val)
NM_001371986.1(UNC80):c.1330A>G (p.Lys444Glu)
NM_001371986.1(UNC80):c.1346G>T (p.Arg449Leu) rs867853653
NM_001371986.1(UNC80):c.137G>C (p.Cys46Ser)
NM_001371986.1(UNC80):c.1408C>T (p.Arg470Trp)
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.152G>A (p.Arg51Gln) rs1359174506
NM_001371986.1(UNC80):c.1565G>A (p.Arg522Gln)
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.1778A>G (p.Asn593Ser)
NM_001371986.1(UNC80):c.1825C>T (p.Pro609Ser)
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.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.1936C>T (p.His646Tyr) rs1467598370
NM_001371986.1(UNC80):c.1978G>C (p.Val660Leu)
NM_001371986.1(UNC80):c.1981T>C (p.Tyr661His) rs2080044530
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.2014A>G (p.Ile672Val)
NM_001371986.1(UNC80):c.2017T>C (p.Cys673Arg)
NM_001371986.1(UNC80):c.2018G>A (p.Cys673Tyr)
NM_001371986.1(UNC80):c.2027C>G (p.Ala676Gly)
NM_001371986.1(UNC80):c.2060G>A (p.Gly687Asp)
NM_001371986.1(UNC80):c.2071T>C (p.Cys691Arg)
NM_001371986.1(UNC80):c.2082G>T (p.Lys694Asn)
NM_001371986.1(UNC80):c.2090AGA[1] (p.Lys698del) rs2153827815
NM_001371986.1(UNC80):c.2168G>A (p.Gly723Glu)
NM_001371986.1(UNC80):c.217T>A (p.Ser73Thr) rs1022019762
NM_001371986.1(UNC80):c.2188G>A (p.Gly730Arg)
NM_001371986.1(UNC80):c.2222G>A (p.Gly741Glu)
NM_001371986.1(UNC80):c.2228AAG[1] (p.Glu744del)
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.2277AGGTGGAGG[3] (p.Gly764_Gly766dup) rs918663368
NM_001371986.1(UNC80):c.2277_2288del (p.Gly763_Gly766del) rs767181561
NM_001371986.1(UNC80):c.2322C>A (p.Asn774Lys)
NM_001371986.1(UNC80):c.2327A>T (p.Glu776Val)
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.2358T>C (p.His786=)
NM_001371986.1(UNC80):c.2374A>G (p.Met792Val)
NM_001371986.1(UNC80):c.2404T>C (p.Cys802Arg) rs2153828205
NM_001371986.1(UNC80):c.2428C>A (p.His810Asn)
NM_001371986.1(UNC80):c.2432G>A (p.Arg811Gln)
NM_001371986.1(UNC80):c.2434G>A (p.Gly812Arg)
NM_001371986.1(UNC80):c.2443G>A (p.Gly815Arg)
NM_001371986.1(UNC80):c.2462A>G (p.Gln821Arg) rs2153828209
NM_001371986.1(UNC80):c.2464G>A (p.Val822Ile)
NM_001371986.1(UNC80):c.2480C>G (p.Ala827Gly)
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.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.2632G>T (p.Ala878Ser)
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.2707G>T (p.Ala903Ser)
NM_001371986.1(UNC80):c.2712G>C (p.Met904Ile) rs2153828637
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.2764C>T (p.Pro922Ser)
NM_001371986.1(UNC80):c.2782T>G (p.Tyr928Asp)
NM_001371986.1(UNC80):c.2839A>G (p.Arg947Gly)
NM_001371986.1(UNC80):c.2887C>T (p.Pro963Ser)
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.2935A>G (p.Ser979Gly) rs1397666319
NM_001371986.1(UNC80):c.2939A>G (p.Lys980Arg) rs2153828829
NM_001371986.1(UNC80):c.2943-14C>T
NM_001371986.1(UNC80):c.2943G>A (p.Arg981=)
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+3T>C
NM_001371986.1(UNC80):c.299-10T>G
NM_001371986.1(UNC80):c.299-13T>G rs2076919378
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.3041+2dup rs2153828873
NM_001371986.1(UNC80):c.3042-6C>G
NM_001371986.1(UNC80):c.3043G>A (p.Asp1015Asn)
NM_001371986.1(UNC80):c.3059G>C (p.Gly1020Ala) rs2153829193
NM_001371986.1(UNC80):c.3073C>T (p.Arg1025Trp)
NM_001371986.1(UNC80):c.3110G>C (p.Ser1037Thr) rs2153829199
NM_001371986.1(UNC80):c.3121G>A (p.Asp1041Asn)
NM_001371986.1(UNC80):c.3143A>G (p.Gln1048Arg)
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.3191G>A (p.Arg1064Gln)
NM_001371986.1(UNC80):c.3221C>T (p.Ser1074Phe)
NM_001371986.1(UNC80):c.3227G>A (p.Arg1076Gln) rs977303978
NM_001371986.1(UNC80):c.3227G>T (p.Arg1076Leu)
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.3274C>T (p.Leu1092Phe) rs2153829282
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.3331C>T (p.Leu1111Phe)
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.3435G>T (p.Glu1145Asp)
NM_001371986.1(UNC80):c.3449G>A (p.Arg1150His)
NM_001371986.1(UNC80):c.3452T>G (p.Leu1151Arg) rs2124823069
NM_001371986.1(UNC80):c.3455-14_3455-13inv
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.3514G>T (p.Val1172Leu) rs201318495
NM_001371986.1(UNC80):c.355A>T (p.Met119Leu) rs2076922264
NM_001371986.1(UNC80):c.3578A>G (p.Glu1193Gly)
NM_001371986.1(UNC80):c.3845T>C (p.Ile1282Thr)
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.3954G>T (p.Glu1318Asp) rs2124891102
NM_001371986.1(UNC80):c.3956A>G (p.Glu1319Gly) rs2124891107
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.398G>C (p.Gly133Ala) rs138421862
NM_001371986.1(UNC80):c.398G>T (p.Gly133Val) rs138421862
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.4004G>A (p.Cys1335Tyr) rs2124895744
NM_001371986.1(UNC80):c.4006C>T (p.Pro1336Ser)
NM_001371986.1(UNC80):c.4099G>C (p.Glu1367Gln) rs2085246210
NM_001371986.1(UNC80):c.410G>A (p.Arg137Gln)
NM_001371986.1(UNC80):c.4111G>T (p.Asp1371Tyr)
NM_001371986.1(UNC80):c.4127G>T (p.Arg1376Ile)
NM_001371986.1(UNC80):c.4156C>T (p.His1386Tyr)
NM_001371986.1(UNC80):c.4160G>C (p.Arg1387Thr)
NM_001371986.1(UNC80):c.4187_4188delinsAT (p.Gly1396Asp) rs2124907353
NM_001371986.1(UNC80):c.4195G>A (p.Asp1399Asn) rs2124907380
NM_001371986.1(UNC80):c.4214A>G (p.Lys1405Arg)
NM_001371986.1(UNC80):c.4227C>A (p.His1409Gln) rs2124907427
NM_001371986.1(UNC80):c.4239C>G (p.His1413Gln)
NM_001371986.1(UNC80):c.4243C>A (p.Leu1415Ile)
NM_001371986.1(UNC80):c.425G>A (p.Gly142Asp)
NM_001371986.1(UNC80):c.444C>A (p.Phe148Leu)
NM_001371986.1(UNC80):c.4482A>G (p.Glu1494=)
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.4532G>A (p.Ser1511Asn)
NM_001371986.1(UNC80):c.4540G>A (p.Gly1514Ser)
NM_001371986.1(UNC80):c.4569G>C (p.Met1523Ile)
NM_001371986.1(UNC80):c.4581+5G>T rs2086801801
NM_001371986.1(UNC80):c.4582G>T (p.Val1528Leu)
NM_001371986.1(UNC80):c.4595T>C (p.Leu1532Pro)
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.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.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.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.4779A>C (p.Lys1593Asn)
NM_001371986.1(UNC80):c.4782+5_4782+8del rs1201281609
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.4852A>G (p.Lys1618Glu)
NM_001371986.1(UNC80):c.4923G>T (p.Leu1641=) rs1559319182
NM_001371986.1(UNC80):c.492C>G (p.Ser164Arg)
NM_001371986.1(UNC80):c.4945C>G (p.Leu1649Val)
NM_001371986.1(UNC80):c.494G>T (p.Ser165Ile)
NM_001371986.1(UNC80):c.4963G>A (p.Gly1655Arg)
NM_001371986.1(UNC80):c.497C>G (p.Ser166Cys)
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.5024C>A (p.Ala1675Glu) rs1336013617
NM_001371986.1(UNC80):c.5024C>T (p.Ala1675Val)
NM_001371986.1(UNC80):c.50G>T (p.Gly17Val) rs2153824309
NM_001371986.1(UNC80):c.518A>G (p.Asn173Ser)
NM_001371986.1(UNC80):c.5379T>A (p.His1793Gln) rs2124953036
NM_001371986.1(UNC80):c.5402A>G (p.Lys1801Arg)
NM_001371986.1(UNC80):c.544A>G (p.Met182Val)
NM_001371986.1(UNC80):c.5518C>T (p.Pro1840Ser)
NM_001371986.1(UNC80):c.5530+3G>T rs2124953239
NM_001371986.1(UNC80):c.5534A>T (p.Glu1845Val) rs2124953934
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.5641C>A (p.Arg1881Ser)
NM_001371986.1(UNC80):c.5642G>A (p.Arg1881His)
NM_001371986.1(UNC80):c.5656G>A (p.Ala1886Thr)
NM_001371986.1(UNC80):c.5719G>A (p.Ala1907Thr) rs1476475256
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+6G>A
NM_001371986.1(UNC80):c.5810G>C (p.Ser1937Thr)
NM_001371986.1(UNC80):c.5815G>A (p.Val1939Met) rs2124964127
NM_001371986.1(UNC80):c.591C>G (p.His197Gln)
NM_001371986.1(UNC80):c.5925G>T (p.Met1975Ile) rs2124965705
NM_001371986.1(UNC80):c.5960C>T (p.Pro1987Leu) rs2124965758
NM_001371986.1(UNC80):c.5966A>C (p.Gln1989Pro)
NM_001371986.1(UNC80):c.5994G>T (p.Leu1998Phe) rs2124965789
NM_001371986.1(UNC80):c.5996T>A (p.Val1999Glu) rs984602297
NM_001371986.1(UNC80):c.6032A>G (p.Glu2011Gly) rs2091062703
NM_001371986.1(UNC80):c.6040A>G (p.Met2014Val) rs2091063261
NM_001371986.1(UNC80):c.6095A>G (p.Glu2032Gly) rs2124969677
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.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.6192G>T (p.Leu2064Phe)
NM_001371986.1(UNC80):c.6217G>A (p.Asp2073Asn) rs2124971867
NM_001371986.1(UNC80):c.6273+3A>T
NM_001371986.1(UNC80):c.6273+4G>A rs550058061
NM_001371986.1(UNC80):c.6295A>G (p.Ile2099Val)
NM_001371986.1(UNC80):c.6303A>T (p.Glu2101Asp)
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.6363G>A (p.Lys2121=)
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.6465+3G>A rs2124974237
NM_001371986.1(UNC80):c.6473C>A (p.Thr2158Asn)
NM_001371986.1(UNC80):c.6481C>A (p.Leu2161Met) rs2124976588
NM_001371986.1(UNC80):c.6530T>C (p.Ile2177Thr)
NM_001371986.1(UNC80):c.6555C>G (p.His2185Gln) rs78714720
NM_001371986.1(UNC80):c.6571G>C (p.Glu2191Gln)
NM_001371986.1(UNC80):c.6578TCC[1] (p.Leu2194del)
NM_001371986.1(UNC80):c.6583C>T (p.Arg2195Cys) rs926523476
NM_001371986.1(UNC80):c.6628C>T (p.Leu2210Phe)
NM_001371986.1(UNC80):c.6645_6646+3dup rs1263562958
NM_001371986.1(UNC80):c.6646+2_6646+3insTTGATCCTCAAG
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.676G>A (p.Val226Ile)
NM_001371986.1(UNC80):c.6778A>G (p.Asn2260Asp)
NM_001371986.1(UNC80):c.6838G>A (p.Val2280Ile) rs1314338608
NM_001371986.1(UNC80):c.689C>A (p.Thr230Asn)
NM_001371986.1(UNC80):c.6927C>G (p.Asp2309Glu) rs2091747405
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.6995G>A (p.Arg2332Gln) rs2124981635
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.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.7189+4A>G
NM_001371986.1(UNC80):c.7228A>G (p.Ser2410Gly) rs2124984318
NM_001371986.1(UNC80):c.7229G>C (p.Ser2410Thr)
NM_001371986.1(UNC80):c.725-5T>C
NM_001371986.1(UNC80):c.727A>G (p.Lys243Glu)
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.7315T>A (p.Leu2439Ile)
NM_001371986.1(UNC80):c.7330C>T (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.7347G>T (p.Arg2449Ser)
NM_001371986.1(UNC80):c.7390A>C (p.Ile2464Leu)
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.7429del (p.Leu2477fs) rs1559387347
NM_001371986.1(UNC80):c.7447G>A (p.Val2483Ile)
NM_001371986.1(UNC80):c.7465A>G (p.Thr2489Ala)
NM_001371986.1(UNC80):c.7493A>C (p.Gln2498Pro)
NM_001371986.1(UNC80):c.7526C>T (p.Thr2509Ile) rs2124999399
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+5A>C rs759668606
NM_001371986.1(UNC80):c.7586+5A>G rs759668606
NM_001371986.1(UNC80):c.7587G>A (p.Arg2529=)
NM_001371986.1(UNC80):c.7654C>T (p.Arg2552Trp)
NM_001371986.1(UNC80):c.7661A>G (p.Glu2554Gly) rs2125001105
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.7726C>T (p.Arg2576Trp)
NM_001371986.1(UNC80):c.7754G>A (p.Gly2585Glu)
NM_001371986.1(UNC80):c.7759C>T (p.Pro2587Ser)
NM_001371986.1(UNC80):c.7763G>A (p.Arg2588Gln) rs1396239022
NM_001371986.1(UNC80):c.7801A>T (p.Met2601Leu) rs1225972802
NM_001371986.1(UNC80):c.783T>A (p.Asp261Glu) 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.7871G>T (p.Arg2624Leu)
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.7948C>G (p.Leu2650Val) rs1185761554
NM_001371986.1(UNC80):c.798G>A (p.Glu266=) rs2153825479
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.8120G>T (p.Cys2707Phe)
NM_001371986.1(UNC80):c.8143G>T (p.Val2715Leu)
NM_001371986.1(UNC80):c.8197C>T (p.Leu2733Phe)
NM_001371986.1(UNC80):c.8209C>G (p.Leu2737Val)
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.827A>G (p.Gln276Arg) rs756506394
NM_001371986.1(UNC80):c.8321A>T (p.Glu2774Val) rs2125013184
NM_001371986.1(UNC80):c.8323G>T (p.Gly2775Trp)
NM_001371986.1(UNC80):c.8360C>T (p.Thr2787Ile)
NM_001371986.1(UNC80):c.8380G>C (p.Asp2794His) rs2125013237
NM_001371986.1(UNC80):c.8387C>T (p.Pro2796Leu) rs2125013860
NM_001371986.1(UNC80):c.8435A>G (p.Asn2812Ser)
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.854C>T (p.Thr285Ile) rs912341881
NM_001371986.1(UNC80):c.8570G>A (p.Ser2857Asn)
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.8641T>C (p.Trp2881Arg)
NM_001371986.1(UNC80):c.8716A>C (p.Ile2906Leu) rs2125016845
NM_001371986.1(UNC80):c.8753G>A (p.Arg2918His)
NM_001371986.1(UNC80):c.8780C>T (p.Ala2927Val)
NM_001371986.1(UNC80):c.8806C>A (p.Leu2936Ile)
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.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.8900A>G (p.Glu2967Gly)
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.8948G>A (p.Gly2983Asp) rs1316752442
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.9054C>G (p.Asp3018Glu)
NM_001371986.1(UNC80):c.9055A>C (p.Ser3019Arg) rs2125019292
NM_001371986.1(UNC80):c.9094C>G (p.Arg3032Gly)
NM_001371986.1(UNC80):c.9103G>A (p.Glu3035Lys)
NM_001371986.1(UNC80):c.9118+4G>A
NM_001371986.1(UNC80):c.9118+4G>T
NM_001371986.1(UNC80):c.9119-1_9119insGAG rs1559437278
NM_001371986.1(UNC80):c.9127A>G (p.Ile3043Val)
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.9188G>A (p.Arg3063Lys)
NM_001371986.1(UNC80):c.92+5G>T
NM_001371986.1(UNC80):c.9238G>A (p.Gly3080Ser) rs2125023131
NM_001371986.1(UNC80):c.9241A>C (p.Met3081Leu)
NM_001371986.1(UNC80):c.925C>T (p.Pro309Ser)
NM_001371986.1(UNC80):c.9272T>G (p.Leu3091Arg) rs2125025530
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.9311C>G (p.Ser3104Cys)
NM_001371986.1(UNC80):c.9351C>G (p.Asn3117Lys)
NM_001371986.1(UNC80):c.9359T>G (p.Val3120Gly)
NM_001371986.1(UNC80):c.938G>A (p.Arg313Lys) rs2153825790
NM_001371986.1(UNC80):c.9404G>A (p.Arg3135His)
NM_001371986.1(UNC80):c.9407C>T (p.Pro3136Leu)
NM_001371986.1(UNC80):c.9409C>G (p.Leu3137Val)
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.9502C>G (p.Pro3168Ala) rs2125033859
NM_001371986.1(UNC80):c.950T>A (p.Val317Glu)
NM_001371986.1(UNC80):c.9521G>A (p.Arg3174Gln)
NM_001371986.1(UNC80):c.9540G>T (p.Glu3180Asp)
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.962G>T (p.Cys321Phe)
NM_001371986.1(UNC80):c.9637A>G (p.Met3213Val)
NM_001371986.1(UNC80):c.9658T>C (p.Ser3220Pro)
NM_001371986.1(UNC80):c.9673G>A (p.Val3225Ile)
NM_001371986.1(UNC80):c.9679_9697del (p.Ala3227fs) rs2125034865
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.9765_9766dup (p.Ala3256fs)
NM_001371986.1(UNC80):c.9782C>T (p.Pro3261Leu)
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.9950C>A (p.Ala3317Glu)
NM_001371986.1(UNC80):c.9958G>A (p.Asp3320Asn) rs2093472113

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