ClinVar Miner

List of variants in gene UNC13D studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1321
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=) rs7210574 0.49757
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_199242.3(UNC13D):c.117+59C>T rs3744010 0.31218
NM_199242.3(UNC13D):c.154-19G>A rs3744009 0.24392
NM_199242.3(UNC13D):c.1992+5G>A rs17581728 0.19407
NM_199242.3(UNC13D):c.*326C>T rs9916685 0.08635
NM_199242.3(UNC13D):c.1389+36G>A rs74410877 0.08586
NM_199242.2(UNC13D):c.-149G>A rs3744012 0.07109
NM_199242.3(UNC13D):c.1744C>T (p.Leu582=) rs75853379 0.02622
NM_199242.3(UNC13D):c.1977C>T (p.Thr659=) rs2290770 0.02469
NM_199242.2(UNC13D):c.-250C>T rs57161046 0.02092
NM_199242.3(UNC13D):c.262-17G>A rs142996967 0.01903
NM_199242.2(UNC13D):c.-260C>T rs113482537 0.01892
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_199242.3(UNC13D):c.951+13T>G rs140758914 0.01637
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_199242.3(UNC13D):c.3252T>C (p.His1084=) rs61753922 0.01313
NM_199242.3(UNC13D):c.1992+11T>C rs112501965 0.01262
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_199242.3(UNC13D):c.*658G>A rs115709152 0.01012
NM_199242.2(UNC13D):c.-180C>T rs149878313 0.00936
NM_199242.3(UNC13D):c.*64C>T rs113904350 0.00793
NM_199242.3(UNC13D):c.2298+15C>T rs112341334 0.00741
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_199242.3(UNC13D):c.569+19G>A rs61753875 0.00381
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_199242.3(UNC13D):c.2554-16C>T rs184354110 0.00346
NM_199242.3(UNC13D):c.2091+16G>T rs10401023 0.00202
NM_199242.3(UNC13D):c.2955-14G>C rs138462345 0.00196
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_199242.3(UNC13D):c.1056-13C>T rs141030299 0.00169
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_199242.3(UNC13D):c.*621C>T rs181467869 0.00140
NM_199242.3(UNC13D):c.567C>A (p.Ile189=) rs147903551 0.00134
NM_199242.3(UNC13D):c.547G>A (p.Val183Ile) rs141692294 0.00115
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_199242.3(UNC13D):c.2625+19C>T rs188535511 0.00104
NM_199242.3(UNC13D):c.24G>A (p.Pro8=) rs143320460 0.00095
NM_199242.3(UNC13D):c.99G>A (p.Pro33=) rs147886860 0.00090
NM_199242.2(UNC13D):c.-229C>G rs569893312 0.00089
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_199242.3(UNC13D):c.1389+12G>A rs199536082 0.00070
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=) rs150861045 0.00070
NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln) rs200109035 0.00067
NM_199242.3(UNC13D):c.858+12A>C rs191712530 0.00063
NM_199242.3(UNC13D):c.1174-15C>G rs374069629 0.00059
NM_199242.3(UNC13D):c.1389+14G>A rs113956688 0.00056
NM_199242.3(UNC13D):c.3078C>T (p.Pro1026=) rs372034111 0.00056
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_199242.3(UNC13D):c.2368-5C>T rs180768962 0.00045
NM_199242.3(UNC13D):c.2278G>A (p.Val760Ile) rs143264522 0.00044
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.1215C>T (p.Tyr405=) rs143184345 0.00034
NM_199242.3(UNC13D):c.444G>A (p.Gly148=) rs373551579 0.00034
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=) rs144730861 0.00030
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_199242.3(UNC13D):c.1725G>A (p.Glu575=) rs150521730 0.00028
NM_199242.3(UNC13D):c.1072A>G (p.Ser358Gly) rs570657599 0.00027
NM_199242.3(UNC13D):c.2447+19C>T rs775204018 0.00023
NM_199242.3(UNC13D):c.1818G>A (p.Ala606=) rs200621516 0.00022
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys) rs148574729 0.00021
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser) rs139564938 0.00020
NM_199242.3(UNC13D):c.1076G>A (p.Arg359His) rs146611729 0.00019
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_199242.3(UNC13D):c.3145C>G (p.Pro1049Ala) rs750743318 0.00019
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu) rs541737648 0.00019
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg) rs142335129 0.00018
NM_199242.3(UNC13D):c.3269C>T (p.Pro1090Leu) rs751649441 0.00018
NM_199242.3(UNC13D):c.1212C>G (p.Thr404=) rs201727463 0.00017
NM_199242.3(UNC13D):c.262-7C>T rs368236546 0.00017
NM_199242.3(UNC13D):c.481G>A (p.Val161Met) rs148148746 0.00016
NM_199242.3(UNC13D):c.261+8C>T rs573508258 0.00014
NM_199242.3(UNC13D):c.670C>T (p.His224Tyr) rs145607492 0.00014
NM_199242.3(UNC13D):c.1520G>A (p.Arg507His) rs866295247 0.00013
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_199242.3(UNC13D):c.2191G>A (p.Val731Met) rs377549461 0.00012
NM_199242.3(UNC13D):c.2510G>A (p.Arg837His) rs780296355 0.00012
NM_199242.3(UNC13D):c.3037G>A (p.Asp1013Asn) rs140837214 0.00012
NM_199242.3(UNC13D):c.3182G>A (p.Arg1061Gln) rs79891552 0.00012
NM_199242.3(UNC13D):c.1038C>T (p.Asp346=) rs143231110 0.00011
NM_199242.3(UNC13D):c.2242G>A (p.Ala748Thr) rs200980507 0.00011
NM_199242.3(UNC13D):c.2973G>A (p.Pro991=) rs564875531 0.00011
NM_199242.3(UNC13D):c.453C>T (p.Pro151=) rs138997390 0.00011
NM_199242.3(UNC13D):c.467G>A (p.Arg156Gln) rs370610759 0.00011
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=) rs371924071 0.00010
NM_199242.3(UNC13D):c.2083G>A (p.Ala695Thr) rs145589230 0.00010
NM_199242.3(UNC13D):c.3259C>T (p.Arg1087Trp) rs533281672 0.00010
NM_199242.3(UNC13D):c.1389+13C>T rs371416823 0.00009
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_199242.3(UNC13D):c.1760G>A (p.Arg587His) rs201600711 0.00009
NM_199242.3(UNC13D):c.1934G>A (p.Arg645Gln) rs371162326 0.00009
NM_199242.3(UNC13D):c.2553+12G>A rs560520169 0.00009
NM_199242.3(UNC13D):c.999C>T (p.Thr333=) rs138268544 0.00009
NM_199242.3(UNC13D):c.1152G>C (p.Gln384His) rs570422323 0.00008
NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val) rs375724532 0.00008
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser) rs149099554 0.00007
NM_199242.3(UNC13D):c.1928C>T (p.Thr643Ile) rs184046644 0.00007
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=) rs372453702 0.00007
NM_199242.3(UNC13D):c.273G>A (p.Val91=) rs149494974 0.00007
NM_199242.3(UNC13D):c.3152-4G>A rs367571835 0.00007
NM_199242.3(UNC13D):c.794C>G (p.Pro265Arg) rs200265541 0.00007
NM_199242.3(UNC13D):c.1014C>T (p.His338=) rs375097777 0.00006
NM_199242.3(UNC13D):c.1189G>A (p.Ala397Thr) rs769602840 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_199242.3(UNC13D):c.1532A>C (p.Lys511Thr) rs771633331 0.00006
NM_199242.3(UNC13D):c.1596+16G>A rs554753744 0.00006
NM_199242.3(UNC13D):c.1728-10C>A rs753356790 0.00006
NM_199242.3(UNC13D):c.1741G>T (p.Ala581Ser) rs763766894 0.00006
NM_199242.3(UNC13D):c.1773G>T (p.Pro591=) rs367988204 0.00006
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys) rs755931780 0.00006
NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met) rs761013333 0.00006
NM_199242.3(UNC13D):c.2358G>A (p.Leu786=) rs532486218 0.00006
NM_199242.3(UNC13D):c.2384T>C (p.Met795Thr) rs372220517 0.00006
NM_199242.3(UNC13D):c.2448-7G>A rs537787945 0.00006
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=) rs200014965 0.00006
NM_199242.3(UNC13D):c.2517A>C (p.Ser839=) rs147532673 0.00006
NM_199242.3(UNC13D):c.2955-8C>T rs765196017 0.00006
NM_199242.3(UNC13D):c.3036C>T (p.Asp1012=) rs201238621 0.00006
NM_199242.3(UNC13D):c.3068G>A (p.Arg1023His) rs751157590 0.00006
NM_199242.3(UNC13D):c.3075G>C (p.Val1025=) rs750974136 0.00006
NM_199242.3(UNC13D):c.3152-17A>G rs756249085 0.00006
NM_199242.3(UNC13D):c.3238C>T (p.Gln1080Ter) rs545293601 0.00006
NM_199242.3(UNC13D):c.32G>C (p.Arg11Pro) rs574927621 0.00006
NM_199242.3(UNC13D):c.460C>T (p.Arg154Trp) rs749259935 0.00006
NM_199242.3(UNC13D):c.684-5C>T rs374984588 0.00006
NM_199242.3(UNC13D):c.71G>A (p.Arg24His) rs777619516 0.00006
NM_199242.3(UNC13D):c.859-4G>A rs373239557 0.00006
NM_199242.3(UNC13D):c.881C>T (p.Ser294Leu) rs370741117 0.00006
NM_199242.3(UNC13D):c.*317C>T rs767459692 0.00005
NM_199242.3(UNC13D):c.*502C>A rs987164404 0.00005
NM_199242.3(UNC13D):c.1134C>T (p.Ile378=) rs751624266 0.00005
NM_199242.3(UNC13D):c.1156C>T (p.Arg386Trp) rs536336944 0.00005
NM_199242.3(UNC13D):c.117+9G>C rs1009838525 0.00005
NM_199242.3(UNC13D):c.1819C>G (p.Arg607Gly) rs374106771 0.00005
NM_199242.3(UNC13D):c.1848+2dup rs774635307 0.00005
NM_199242.3(UNC13D):c.2174A>G (p.Glu725Gly) rs757899809 0.00005
NM_199242.3(UNC13D):c.3018C>T (p.Tyr1006=) rs775862197 0.00005
NM_199242.3(UNC13D):c.3030G>A (p.Gly1010=) rs767150175 0.00005
NM_199242.3(UNC13D):c.3052G>T (p.Ala1018Ser) rs553992292 0.00005
NM_199242.3(UNC13D):c.570-18G>A rs200526730 0.00005
NM_199242.3(UNC13D):c.67C>T (p.Arg23Cys) rs575632298 0.00005
NM_199242.3(UNC13D):c.857G>A (p.Arg286Gln) rs139155193 0.00005
NM_199242.3(UNC13D):c.898G>A (p.Val300Met) rs141499220 0.00005
NM_199242.3(UNC13D):c.1039T>C (p.Phe347Leu) rs777550761 0.00004
NM_199242.3(UNC13D):c.118-9G>C rs527842266 0.00004
NM_199242.3(UNC13D):c.1279C>T (p.Arg427Trp) rs779947557 0.00004
NM_199242.3(UNC13D):c.154-13C>A rs908049021 0.00004
NM_199242.3(UNC13D):c.1597G>A (p.Val533Met) rs201663917 0.00004
NM_199242.3(UNC13D):c.1849-7C>T rs753980375 0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_199242.3(UNC13D):c.2003G>A (p.Arg668His) rs143939013 0.00004
NM_199242.3(UNC13D):c.2111A>G (p.Asp704Gly) rs762112010 0.00004
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser) rs115353346 0.00004
NM_199242.3(UNC13D):c.2146C>T (p.Pro716Ser) rs774476484 0.00004
NM_199242.3(UNC13D):c.2149G>A (p.Ala717Thr) rs771145468 0.00004
NM_199242.3(UNC13D):c.2223G>A (p.Leu741=) rs768037542 0.00004
NM_199242.3(UNC13D):c.2250C>T (p.Ala750=) rs146737486 0.00004
NM_199242.3(UNC13D):c.2298+11C>T rs770114072 0.00004
NM_199242.3(UNC13D):c.2340C>T (p.Gly780=) rs556654678 0.00004
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=) rs763343306 0.00004
NM_199242.3(UNC13D):c.2554-13A>G rs533490795 0.00004
NM_199242.3(UNC13D):c.280G>A (p.Glu94Lys) rs537781874 0.00004
NM_199242.3(UNC13D):c.3062C>T (p.Pro1021Leu) rs375153464 0.00004
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys) rs140599939 0.00004
NM_199242.3(UNC13D):c.3081G>C (p.Gly1027=) rs761028266 0.00004
NM_199242.3(UNC13D):c.3248A>C (p.Gln1083Pro) rs766632931 0.00004
NM_199242.3(UNC13D):c.3263C>T (p.Pro1088Leu) rs564329348 0.00004
NM_199242.3(UNC13D):c.335G>C (p.Cys112Ser) rs141540493 0.00004
NM_199242.3(UNC13D):c.519G>A (p.Thr173=) rs370278536 0.00004
NM_199242.3(UNC13D):c.569+10C>T rs368069154 0.00004
NM_199242.3(UNC13D):c.5C>T (p.Ala2Val) rs752295384 0.00004
NM_199242.3(UNC13D):c.602A>G (p.His201Arg) rs200033170 0.00004
NM_199242.3(UNC13D):c.663G>A (p.Thr221=) rs771266801 0.00004
NM_199242.3(UNC13D):c.680G>A (p.Arg227His) rs751394792 0.00004
NM_199242.3(UNC13D):c.754-9G>A rs765308578 0.00004
NM_199242.3(UNC13D):c.859-3C>T rs563600513 0.00004
NM_199242.3(UNC13D):c.962C>A (p.Thr321Asn) rs372716881 0.00004
NM_199242.3(UNC13D):c.973G>A (p.Gly325Arg) rs199909864 0.00004
NM_199242.3(UNC13D):c.*3G>A rs531729868 0.00003
NM_199242.3(UNC13D):c.1447-8C>G rs760322200 0.00003
NM_199242.3(UNC13D):c.1477G>A (p.Gly493Ser) rs759754878 0.00003
NM_199242.3(UNC13D):c.1500C>T (p.Gly500=) rs199672701 0.00003
NM_199242.3(UNC13D):c.1515C>T (p.Cys505=) rs139327831 0.00003
NM_199242.3(UNC13D):c.1622C>T (p.Thr541Met) rs3744025 0.00003
NM_199242.3(UNC13D):c.1730A>C (p.Asp577Ala) rs1011649256 0.00003
NM_199242.3(UNC13D):c.1830C>T (p.Arg610=) rs572194095 0.00003
NM_199242.3(UNC13D):c.197G>A (p.Arg66His) rs371943727 0.00003
NM_199242.3(UNC13D):c.2254C>A (p.Leu752Met) rs756749933 0.00003
NM_199242.3(UNC13D):c.2258_2259insA (p.His754fs) rs1163596220 0.00003
NM_199242.3(UNC13D):c.2282G>A (p.Arg761His) rs760020541 0.00003
NM_199242.3(UNC13D):c.2448-8C>T rs764073748 0.00003
NM_199242.3(UNC13D):c.2491G>A (p.Glu831Lys) rs774039644 0.00003
NM_199242.3(UNC13D):c.2495C>T (p.Ala832Val) rs201931051 0.00003
NM_199242.3(UNC13D):c.2972C>T (p.Pro991Leu) rs145549734 0.00003
NM_199242.3(UNC13D):c.3007G>A (p.Val1003Met) rs200462004 0.00003
NM_199242.3(UNC13D):c.3051G>A (p.Glu1017=) rs368211297 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_199242.3(UNC13D):c.3142G>A (p.Ala1048Thr) rs758781229 0.00003
NM_199242.3(UNC13D):c.3223C>T (p.Arg1075Trp) rs370710344 0.00003
NM_199242.3(UNC13D):c.3224G>A (p.Arg1075Gln) rs377594755 0.00003
NM_199242.3(UNC13D):c.3260G>A (p.Arg1087Gln) rs760766927 0.00003
NM_199242.3(UNC13D):c.3264G>A (p.Pro1088=) rs755126817 0.00003
NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=) rs545430645 0.00003
NM_199242.3(UNC13D):c.514C>T (p.Arg172Cys) rs560126604 0.00003
NM_199242.3(UNC13D):c.579G>A (p.Glu193=) rs201806234 0.00003
NM_199242.3(UNC13D):c.641G>A (p.Arg214Gln) rs761043074 0.00003
NM_199242.3(UNC13D):c.70C>A (p.Arg24Ser) rs749234163 0.00003
NM_199242.3(UNC13D):c.713G>A (p.Gly238Asp) rs775232059 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_199242.3(UNC13D):c.754-10C>T rs183508320 0.00003
NM_199242.3(UNC13D):c.859-10C>T rs774669801 0.00003
NM_199242.3(UNC13D):c.1000G>A (p.Val334Ile) rs373019036 0.00002
NM_199242.3(UNC13D):c.1027G>T (p.Asp343Tyr) rs150442758 0.00002
NM_199242.3(UNC13D):c.1032A>G (p.Leu344=) rs779488594 0.00002
NM_199242.3(UNC13D):c.1056-8C>T rs766550767 0.00002
NM_199242.3(UNC13D):c.1075C>T (p.Arg359Cys) rs760457545 0.00002
NM_199242.3(UNC13D):c.1083C>T (p.Tyr361=) rs745408274 0.00002
NM_199242.3(UNC13D):c.1218C>G (p.Gly406=) rs766381273 0.00002
NM_199242.3(UNC13D):c.1301T>C (p.Val434Ala) rs752360915 0.00002
NM_199242.3(UNC13D):c.1369C>A (p.Leu457Met) rs556930184 0.00002
NM_199242.3(UNC13D):c.1382C>T (p.Ala461Val) rs144078744 0.00002
NM_199242.3(UNC13D):c.1544+6C>G rs773025071 0.00002
NM_199242.3(UNC13D):c.1580G>A (p.Arg527Gln) rs775555882 0.00002
NM_199242.3(UNC13D):c.1616A>G (p.Asp539Gly) rs780794721 0.00002
NM_199242.3(UNC13D):c.1625C>T (p.Thr542Met) rs766409638 0.00002
NM_199242.3(UNC13D):c.1709G>A (p.Arg570His) rs774248632 0.00002
NM_199242.3(UNC13D):c.1777A>G (p.Ile593Val) rs776985159 0.00002
NM_199242.3(UNC13D):c.1782C>G (p.Pro594=) rs772047605 0.00002
NM_199242.3(UNC13D):c.1829G>A (p.Arg610His) rs749184121 0.00002
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=) rs753021453 0.00002
NM_199242.3(UNC13D):c.1933C>T (p.Arg645Trp) rs768266670 0.00002
NM_199242.3(UNC13D):c.2068G>A (p.Asp690Asn) rs550419919 0.00002
NM_199242.3(UNC13D):c.2193G>C (p.Val731=) rs1001766122 0.00002
NM_199242.3(UNC13D):c.2298+3A>G rs773604668 0.00002
NM_199242.3(UNC13D):c.2299T>C (p.Leu767=) rs371685442 0.00002
NM_199242.3(UNC13D):c.2507A>T (p.Gln836Leu) rs747265361 0.00002
NM_199242.3(UNC13D):c.261+9G>A rs754902598 0.00002
NM_199242.3(UNC13D):c.271G>A (p.Val91Met) rs374308904 0.00002
NM_199242.3(UNC13D):c.3006C>T (p.Thr1002=) rs773217124 0.00002
NM_199242.3(UNC13D):c.3022A>C (p.Thr1008Pro) rs753816739 0.00002
NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His) rs374478310 0.00002
NM_199242.3(UNC13D):c.3208T>C (p.Phe1070Leu) rs769221887 0.00002
NM_199242.3(UNC13D):c.322-2A>T rs752651197 0.00002
NM_199242.3(UNC13D):c.3229_3235del (p.Arg1077fs) rs766652119 0.00002
NM_199242.3(UNC13D):c.515G>A (p.Arg172His) rs769659694 0.00002
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) rs754292065 0.00002
NM_199242.3(UNC13D):c.555C>T (p.Asp185=) rs756118878 0.00002
NM_199242.3(UNC13D):c.628G>C (p.Val210Leu) rs917497461 0.00002
NM_199242.3(UNC13D):c.701G>A (p.Arg234Gln) rs560990369 0.00002
NM_199242.3(UNC13D):c.721G>A (p.Asp241Asn) rs765792484 0.00002
NM_199242.3(UNC13D):c.735C>T (p.Asn245=) rs756659696 0.00002
NM_199242.3(UNC13D):c.754-8C>T rs201406035 0.00002
NM_199242.3(UNC13D):c.755A>T (p.Asp252Val) rs1131691264 0.00002
NM_199242.3(UNC13D):c.856C>T (p.Arg286Trp) rs142618705 0.00002
NM_199242.3(UNC13D):c.859-13G>C rs989852597 0.00002
NM_199242.3(UNC13D):c.903C>A (p.His301Gln) rs544643767 0.00002
NM_199242.3(UNC13D):c.933C>T (p.His311=) rs149650660 0.00002
NM_199242.2(UNC13D):c.-115C>T rs886053425 0.00001
NM_199242.2(UNC13D):c.-158C>T rs886053426 0.00001
NM_199242.3(UNC13D):c.1018A>G (p.Thr340Ala) rs2064935031 0.00001
NM_199242.3(UNC13D):c.1019C>T (p.Thr340Ile) rs754889453 0.00001
NM_199242.3(UNC13D):c.1055+1G>A rs754205110 0.00001
NM_199242.3(UNC13D):c.1135G>A (p.Glu379Lys) rs151047555 0.00001
NM_199242.3(UNC13D):c.117+143A>G rs931794659 0.00001
NM_199242.3(UNC13D):c.1183C>G (p.Leu395Val) rs1023140477 0.00001
NM_199242.3(UNC13D):c.1229_1230dup (p.Arg411fs) rs747180228 0.00001
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys) rs750811263 0.00001
NM_199242.3(UNC13D):c.1282C>G (p.Leu428Val) rs2064910555 0.00001
NM_199242.3(UNC13D):c.1298+16C>T rs1003328910 0.00001
NM_199242.3(UNC13D):c.1390-6C>T rs376631424 0.00001
NM_199242.3(UNC13D):c.1395C>T (p.Gly465=) rs1382625659 0.00001
NM_199242.3(UNC13D):c.1413C>T (p.His471=) rs777622002 0.00001
NM_199242.3(UNC13D):c.1425G>A (p.Gln475=) rs780636406 0.00001
NM_199242.3(UNC13D):c.1519C>T (p.Arg507Cys) rs746549838 0.00001
NM_199242.3(UNC13D):c.154-12C>T rs201566360 0.00001
NM_199242.3(UNC13D):c.1544+19C>T rs752742945 0.00001
NM_199242.3(UNC13D):c.1556T>C (p.Ile519Thr) rs1402195363 0.00001
NM_199242.3(UNC13D):c.155G>A (p.Arg52Gln) rs750613531 0.00001
NM_199242.3(UNC13D):c.156G>T (p.Arg52=) rs111728477 0.00001
NM_199242.3(UNC13D):c.1587G>A (p.Leu529=) rs759125122 0.00001
NM_199242.3(UNC13D):c.1596+1G>C rs933702160 0.00001
NM_199242.3(UNC13D):c.1597-6T>A rs1456749981 0.00001
NM_199242.3(UNC13D):c.15C>T (p.Leu5=) rs751997671 0.00001
NM_199242.3(UNC13D):c.1606C>T (p.Arg536Trp) rs780530249 0.00001
NM_199242.3(UNC13D):c.1611G>A (p.Val537=) rs538427767 0.00001
NM_199242.3(UNC13D):c.1612C>T (p.Gln538Ter) rs1426054272 0.00001
NM_199242.3(UNC13D):c.1623G>C (p.Thr541=) rs977499810 0.00001
NM_199242.3(UNC13D):c.1659C>T (p.Gly553=) rs374031487 0.00001
NM_199242.3(UNC13D):c.1696C>G (p.Leu566Val) rs1302541348 0.00001
NM_199242.3(UNC13D):c.169G>A (p.Glu57Lys) rs767617631 0.00001
NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys) rs549768303 0.00001
NM_199242.3(UNC13D):c.1719C>T (p.Ser573=) rs749404402 0.00001
NM_199242.3(UNC13D):c.1721C>T (p.Ser574Leu) rs981574088 0.00001
NM_199242.3(UNC13D):c.1727+1G>A rs754882266 0.00001
NM_199242.3(UNC13D):c.1728-12G>A rs546379598 0.00001
NM_199242.3(UNC13D):c.1799C>T (p.Thr600Met) rs770859494 0.00001
NM_199242.3(UNC13D):c.1811C>T (p.Ala604Val) rs1358177458 0.00001
NM_199242.3(UNC13D):c.1841T>A (p.Met614Lys) rs139282207 0.00001
NM_199242.3(UNC13D):c.1848+8C>T rs1450744252 0.00001
NM_199242.3(UNC13D):c.1962G>C (p.Glu654Asp) rs368817708 0.00001
NM_199242.3(UNC13D):c.196C>T (p.Arg66Cys) rs996214730 0.00001
NM_199242.3(UNC13D):c.1992+19G>A rs1267327666 0.00001
NM_199242.3(UNC13D):c.2038C>T (p.Arg680Trp) rs200341276 0.00001
NM_199242.3(UNC13D):c.2091+2_2091+3dup rs778809705 0.00001
NM_199242.3(UNC13D):c.2092-9C>T rs1471072700 0.00001
NM_199242.3(UNC13D):c.2116G>C (p.Glu706Gln) rs140332182 0.00001
NM_199242.3(UNC13D):c.2148C>T (p.Pro716=) rs1431407116 0.00001
NM_199242.3(UNC13D):c.2179C>T (p.Arg727Trp) rs564709979 0.00001
NM_199242.3(UNC13D):c.2197G>A (p.Glu733Lys) rs1469229658 0.00001
NM_199242.3(UNC13D):c.2212C>T (p.Gln738Ter) rs764507196 0.00001
NM_199242.3(UNC13D):c.2220G>A (p.Thr740=) rs758676065 0.00001
NM_199242.3(UNC13D):c.2262T>C (p.His754=) rs753556309 0.00001
NM_199242.3(UNC13D):c.2293G>A (p.Glu765Lys) rs763117746 0.00001
NM_199242.3(UNC13D):c.2299-15G>T rs765565016 0.00001
NM_199242.3(UNC13D):c.231G>A (p.Glu77=) rs148672333 0.00001
NM_199242.3(UNC13D):c.2331A>G (p.Lys777=) rs1200766691 0.00001
NM_199242.3(UNC13D):c.2367+10C>T rs750548560 0.00001
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=) rs747428323 0.00001
NM_199242.3(UNC13D):c.2377C>T (p.Pro793Ser) rs772555038 0.00001
NM_199242.3(UNC13D):c.2383A>T (p.Met795Leu) rs1385939686 0.00001
NM_199242.3(UNC13D):c.23C>T (p.Pro8Leu) rs766811197 0.00001
NM_199242.3(UNC13D):c.2411A>G (p.Tyr804Cys) rs1316684824 0.00001
NM_199242.3(UNC13D):c.2421C>T (p.Thr807=) rs1333852596 0.00001
NM_199242.3(UNC13D):c.2447+1G>A rs1165696705 0.00001
NM_199242.3(UNC13D):c.2448-14C>T rs757075933 0.00001
NM_199242.3(UNC13D):c.248G>A (p.Arg83Gln) rs143944122 0.00001
NM_199242.3(UNC13D):c.2500G>A (p.Ala834Thr) rs748256131 0.00001
NM_199242.3(UNC13D):c.2556C>T (p.Asn852=) rs564380873 0.00001
NM_199242.3(UNC13D):c.2557C>A (p.Leu853Met) rs1457768794 0.00001
NM_199242.3(UNC13D):c.2574C>T (p.His858=) rs17496835 0.00001
NM_199242.3(UNC13D):c.258G>A (p.Gln86=) rs757537508 0.00001
NM_199242.3(UNC13D):c.2618C>T (p.Thr873Ile) rs1322992956 0.00001
NM_199242.3(UNC13D):c.262-18C>T rs374868516 0.00001
NM_199242.3(UNC13D):c.262-20C>G rs368003349 0.00001
NM_199242.3(UNC13D):c.2625+8del rs1234318763 0.00001
NM_199242.3(UNC13D):c.2955-18C>A rs758204874 0.00001
NM_199242.3(UNC13D):c.2955-4G>A rs760466426 0.00001
NM_199242.3(UNC13D):c.2955-5C>T rs201791093 0.00001
NM_199242.3(UNC13D):c.2958G>A (p.Leu986=) rs1276293925 0.00001
NM_199242.3(UNC13D):c.2968G>A (p.Glu990Lys) rs1157428482 0.00001
NM_199242.3(UNC13D):c.2977C>T (p.Arg993Cys) rs759922688 0.00001
NM_199242.3(UNC13D):c.3011T>C (p.Leu1004Pro) rs371940934 0.00001
NM_199242.3(UNC13D):c.3013G>C (p.Asp1005His) rs745623386 0.00001
NM_199242.3(UNC13D):c.3023C>T (p.Thr1008Met) rs777496354 0.00001
NM_199242.3(UNC13D):c.304C>T (p.Arg102Trp) rs749533827 0.00001
NM_199242.3(UNC13D):c.305G>A (p.Arg102Gln) rs778208597 0.00001
NM_199242.3(UNC13D):c.3077C>G (p.Pro1026Arg) rs765680080 0.00001
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg) rs776703437 0.00001
NM_199242.3(UNC13D):c.3084G>C (p.Leu1028=) rs368577676 0.00001
NM_199242.3(UNC13D):c.3127C>T (p.Pro1043Ser) rs780811495 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_199242.3(UNC13D):c.3150C>T (p.Asn1050=) rs764279026 0.00001
NM_199242.3(UNC13D):c.3152-5C>T rs564198879 0.00001
NM_199242.3(UNC13D):c.3158C>T (p.Pro1053Leu) rs2062136435 0.00001
NM_199242.3(UNC13D):c.3173T>C (p.Leu1058Pro) rs1278701043 0.00001
NM_199242.3(UNC13D):c.3181C>T (p.Arg1061Trp) rs1380958280 0.00001
NM_199242.3(UNC13D):c.3204_3206del (p.Gln1068_Val1069delinsHis) rs1219204037 0.00001
NM_199242.3(UNC13D):c.322-8C>T rs769142756 0.00001
NM_199242.3(UNC13D):c.3220C>T (p.Arg1074Trp) rs749580256 0.00001
NM_199242.3(UNC13D):c.328A>G (p.Ile110Val) rs547919091 0.00001
NM_199242.3(UNC13D):c.334T>C (p.Cys112Arg) rs771709162 0.00001
NM_199242.3(UNC13D):c.419T>C (p.Ile140Thr) rs1181554837 0.00001
NM_199242.3(UNC13D):c.455G>A (p.Gly152Glu) rs774159498 0.00001
NM_199242.3(UNC13D):c.461G>A (p.Arg154Gln) rs772954576 0.00001
NM_199242.3(UNC13D):c.47G>A (p.Arg16His) rs149195431 0.00001
NM_199242.3(UNC13D):c.498C>T (p.Pro166=) rs201410236 0.00001
NM_199242.3(UNC13D):c.511C>T (p.His171Tyr) rs752856512 0.00001
NM_199242.3(UNC13D):c.518C>T (p.Thr173Met) rs775835680 0.00001
NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter) rs1157287613 0.00001
NM_199242.3(UNC13D):c.523G>T (p.Val175Phe) rs768225300 0.00001
NM_199242.3(UNC13D):c.560C>G (p.Thr187Ser) rs563841795 0.00001
NM_199242.3(UNC13D):c.569+11G>A rs746068656 0.00001
NM_199242.3(UNC13D):c.569+5G>A rs765034513 0.00001
NM_199242.3(UNC13D):c.569+9C>T rs761672422 0.00001
NM_199242.3(UNC13D):c.594G>A (p.Ala198=) rs755967157 0.00001
NM_199242.3(UNC13D):c.614+10C>T rs766943969 0.00001
NM_199242.3(UNC13D):c.614+1G>T rs866629962 0.00001
NM_199242.3(UNC13D):c.615-3C>T rs1319687389 0.00001
NM_199242.3(UNC13D):c.615-4C>T rs368252536 0.00001
NM_199242.3(UNC13D):c.627T>C (p.Thr209=) rs764862990 0.00001
NM_199242.3(UNC13D):c.634T>G (p.Ser212Ala) rs1415407939 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.652G>T (p.Gly218Trp) rs775666284 0.00001
NM_199242.3(UNC13D):c.681C>T (p.Arg227=) rs779543680 0.00001
NM_199242.3(UNC13D):c.683+7G>A rs200456374 0.00001
NM_199242.3(UNC13D):c.6G>A (p.Ala2=) rs767266346 0.00001
NM_199242.3(UNC13D):c.700C>T (p.Arg234Trp) rs1194073667 0.00001
NM_199242.3(UNC13D):c.754-17G>A rs780473660 0.00001
NM_199242.3(UNC13D):c.754-1G>C rs753990040 0.00001
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys) rs558726483 0.00001
NM_199242.3(UNC13D):c.796C>T (p.Arg266Cys) rs781047872 0.00001
NM_199242.3(UNC13D):c.801T>G (p.Thr267=) rs780425175 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
NM_199242.3(UNC13D):c.818G>A (p.Arg273Gln) rs764351769 0.00001
NM_199242.3(UNC13D):c.858+8G>A rs746620594 0.00001
NM_199242.3(UNC13D):c.859del (p.Arg287fs) rs2064937140 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_199242.3(UNC13D):c.882G>A (p.Ser294=) rs760286447 0.00001
NM_199242.3(UNC13D):c.918G>A (p.Gln306=) rs768944993 0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NM_199242.3(UNC13D):c.929C>T (p.Ser310Phe) rs757125102 0.00001
NM_199242.3(UNC13D):c.953C>T (p.Ala318Val) rs1387995062 0.00001
NM_199242.3(UNC13D):c.954G>A (p.Ala318=) rs751058445 0.00001
NM_199242.3(UNC13D):c.977C>T (p.Ser326Leu) rs762385167 0.00001
NM_199242.3(UNC13D):c.978G>A (p.Ser326=) rs533811160 0.00001
NM_199242.3(UNC13D):c.9A>T (p.Thr3=) rs376902386 0.00001
NC_000017.10:g.(?_73824026)_(73826583_?)dup
NC_000017.10:g.(?_73824046)_(73830244_?)dup
NC_000017.10:g.(?_73839091)_(73841319_?)del
NM_199242.2(UNC13D):c.-176G>A rs886053427
NM_199242.2(UNC13D):c.-278C>T rs886053428
NM_199242.2(UNC13D):c.2258_2267delinsTACCTTGTCCGA (p.Gly753fs) rs1567818219
NM_199242.3(UNC13D):c.*18G>A rs886053421
NM_199242.3(UNC13D):c.*535A>G rs2062131134
NM_199242.3(UNC13D):c.*663C>A rs562884111
NM_199242.3(UNC13D):c.*692C>G rs907700228
NM_199242.3(UNC13D):c.1002C>T (p.Val334=)
NM_199242.3(UNC13D):c.1008T>A (p.Phe336Leu)
NM_199242.3(UNC13D):c.1008T>C (p.Phe336=) rs746042735
NM_199242.3(UNC13D):c.1012C>T (p.His338Tyr)
NM_199242.3(UNC13D):c.1017C>G (p.Ala339=)
NM_199242.3(UNC13D):c.1024A>G (p.Lys342Glu)
NM_199242.3(UNC13D):c.1026G>C (p.Lys342Asn)
NM_199242.3(UNC13D):c.102C>A (p.Pro34=)
NM_199242.3(UNC13D):c.102C>T (p.Pro34=)
NM_199242.3(UNC13D):c.1030C>T (p.Leu344=)
NM_199242.3(UNC13D):c.1035C>G (p.Ser345=)
NM_199242.3(UNC13D):c.1035C>T (p.Ser345=)
NM_199242.3(UNC13D):c.1044C>T (p.His348=) rs2143891267
NM_199242.3(UNC13D):c.1045C>T (p.Gln349Ter)
NM_199242.3(UNC13D):c.1048T>C (p.Ser350Pro) rs1364911644
NM_199242.3(UNC13D):c.1049C>T (p.Ser350Phe) rs2064934780
NM_199242.3(UNC13D):c.1051A>G (p.Met351Val)
NM_199242.3(UNC13D):c.1052T>C (p.Met351Thr)
NM_199242.3(UNC13D):c.1055+13C>G
NM_199242.3(UNC13D):c.1055+17G>T rs1156884456
NM_199242.3(UNC13D):c.1055+3G>A
NM_199242.3(UNC13D):c.1055C>A (p.Ala352Glu) rs532376208
NM_199242.3(UNC13D):c.1056-13C>A
NM_199242.3(UNC13D):c.1056-14C>T
NM_199242.3(UNC13D):c.1056-9C>T
NM_199242.3(UNC13D):c.105A>G (p.Gln35=)
NM_199242.3(UNC13D):c.1065G>T (p.Leu355=)
NM_199242.3(UNC13D):c.1071C>T (p.Tyr357=)
NM_199242.3(UNC13D):c.1072dup (p.Ser358fs) rs2143883327
NM_199242.3(UNC13D):c.1076G>T (p.Arg359Leu) rs146611729
NM_199242.3(UNC13D):c.1077C>T (p.Arg359=)
NM_199242.3(UNC13D):c.1092G>A (p.Leu364=)
NM_199242.3(UNC13D):c.1106G>A (p.Ser369Asn) rs1192412855
NM_199242.3(UNC13D):c.1110C>T (p.Cys370=)
NM_199242.3(UNC13D):c.1116G>A (p.Leu372=)
NM_199242.3(UNC13D):c.111C>T (p.Ala37=)
NM_199242.3(UNC13D):c.1137G>A (p.Glu379=)
NM_199242.3(UNC13D):c.113C>G (p.Pro38Arg) rs202020609
NM_199242.3(UNC13D):c.113C>T (p.Pro38Leu) rs202020609
NM_199242.3(UNC13D):c.1167A>C (p.Ala389=) rs2143883000
NM_199242.3(UNC13D):c.1167A>G (p.Ala389=)
NM_199242.3(UNC13D):c.117+17T>C
NM_199242.3(UNC13D):c.117+18G>A
NM_199242.3(UNC13D):c.117+19G>A
NM_199242.3(UNC13D):c.117+4_117+7dup rs1332124785
NM_199242.3(UNC13D):c.1173+10C>G rs376856418
NM_199242.3(UNC13D):c.1173+11A>G
NM_199242.3(UNC13D):c.1173+14G>A
NM_199242.3(UNC13D):c.1173+16C>T
NM_199242.3(UNC13D):c.1173+17A>G
NM_199242.3(UNC13D):c.1173+1G>A
NM_199242.3(UNC13D):c.1173+9G>A
NM_199242.3(UNC13D):c.1174-15del
NM_199242.3(UNC13D):c.1174-3C>G
NM_199242.3(UNC13D):c.1174-9G>A
NM_199242.3(UNC13D):c.1179G>A (p.Glu393=)
NM_199242.3(UNC13D):c.117G>A (p.Glu39=)
NM_199242.3(UNC13D):c.118-14A>G
NM_199242.3(UNC13D):c.118-15C>T
NM_199242.3(UNC13D):c.118-19T>G
NM_199242.3(UNC13D):c.118-307G>A rs1019391145
NM_199242.3(UNC13D):c.118-4G>T
NM_199242.3(UNC13D):c.118-6C>T
NM_199242.3(UNC13D):c.1188C>T (p.Ala396=)
NM_199242.3(UNC13D):c.1191C>T (p.Ala397=)
NM_199242.3(UNC13D):c.1193C>T (p.Ser398Leu) rs747756030
NM_199242.3(UNC13D):c.1194A>C (p.Ser398=)
NM_199242.3(UNC13D):c.1194A>G (p.Ser398=)
NM_199242.3(UNC13D):c.1199G>A (p.Ser400Asn)
NM_199242.3(UNC13D):c.1201_1202delinsAA (p.Ser401Asn) rs2064911558
NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe) rs758867274
NM_199242.3(UNC13D):c.1203C>A (p.Ser401=)
NM_199242.3(UNC13D):c.1204C>T (p.Leu402=) rs568125844
NM_199242.3(UNC13D):c.1208T>C (p.Leu403Pro) rs121434353
NM_199242.3(UNC13D):c.1215C>G (p.Tyr405Ter) rs143184345
NM_199242.3(UNC13D):c.1229T>C (p.Ile410Thr) rs2143882443
NM_199242.3(UNC13D):c.1236G>A (p.Arg412=)
NM_199242.3(UNC13D):c.1236G>C (p.Arg412Ser) rs764771345
NM_199242.3(UNC13D):c.1239C>T (p.Phe413=)
NM_199242.3(UNC13D):c.1241G>A (p.Arg414His) rs768171054
NM_199242.3(UNC13D):c.1241G>T (p.Arg414Leu)
NM_199242.3(UNC13D):c.1242C>A (p.Arg414=)
NM_199242.3(UNC13D):c.1242C>T (p.Arg414=)
NM_199242.3(UNC13D):c.1246G>A (p.Val416Ile)
NM_199242.3(UNC13D):c.1246_1258dup (p.Ser420fs)
NM_199242.3(UNC13D):c.1251C>T (p.Phe417=)
NM_199242.3(UNC13D):c.1254C>G (p.Pro418=)
NM_199242.3(UNC13D):c.1254C>T (p.Pro418=)
NM_199242.3(UNC13D):c.1255C>A (p.Leu419Ile)
NM_199242.3(UNC13D):c.1255C>G (p.Leu419Val)
NM_199242.3(UNC13D):c.1255C>T (p.Leu419Phe) rs746314361
NM_199242.3(UNC13D):c.1265C>T (p.Ser422Leu)
NM_199242.3(UNC13D):c.1266G>A (p.Ser422=) rs749317896
NM_199242.3(UNC13D):c.1266_1271del (p.Asp423_Ser424del) rs2064910679
NM_199242.3(UNC13D):c.1275A>C (p.Pro425=)
NM_199242.3(UNC13D):c.1280G>A (p.Arg427Gln)
NM_199242.3(UNC13D):c.1283T>G (p.Leu428Arg)
NM_199242.3(UNC13D):c.1284G>A (p.Leu428=)
NM_199242.3(UNC13D):c.1296C>T (p.Leu432=)
NM_199242.3(UNC13D):c.1298+13C>T
NM_199242.3(UNC13D):c.1298+19C>T
NM_199242.3(UNC13D):c.1298+2T>C
NM_199242.3(UNC13D):c.1298G>A (p.Arg433Lys)
NM_199242.3(UNC13D):c.1299-15C>G
NM_199242.3(UNC13D):c.1299-15_1299-14del
NM_199242.3(UNC13D):c.1299-17C>G
NM_199242.3(UNC13D):c.1299-1G>A rs1555601863
NM_199242.3(UNC13D):c.1299-4G>T
NM_199242.3(UNC13D):c.1299-7C>T
NM_199242.3(UNC13D):c.1299-8T>C
NM_199242.3(UNC13D):c.1299-9A>G
NM_199242.3(UNC13D):c.1299G>C (p.Arg433Ser) rs372314255
NM_199242.3(UNC13D):c.1311G>T (p.Gln437His)
NM_199242.3(UNC13D):c.1327G>T (p.Ala443Ser) rs759944295
NM_199242.3(UNC13D):c.1332T>C (p.Phe444=)
NM_199242.3(UNC13D):c.1333G>A (p.Gly445Arg)
NM_199242.3(UNC13D):c.1336G>A (p.Glu446Lys)
NM_199242.3(UNC13D):c.1338A>G (p.Glu446=)
NM_199242.3(UNC13D):c.1340T>G (p.Leu447Arg) rs1333471306
NM_199242.3(UNC13D):c.1346C>G (p.Pro449Arg) rs1051792709
NM_199242.3(UNC13D):c.1353C>T (p.Thr451=)
NM_199242.3(UNC13D):c.1354G>A (p.Ala452Thr)
NM_199242.3(UNC13D):c.1358del (p.Pro453fs)
NM_199242.3(UNC13D):c.1363C>T (p.Pro455Ser) rs2143881541
NM_199242.3(UNC13D):c.1364C>A (p.Pro455His)
NM_199242.3(UNC13D):c.1380G>A (p.Glu460=)
NM_199242.3(UNC13D):c.1383C>T (p.Ala461=)
NM_199242.3(UNC13D):c.1387C>T (p.Gln463Ter)
NM_199242.3(UNC13D):c.1388A>C (p.Gln463Pro)
NM_199242.3(UNC13D):c.1389+11C>T
NM_199242.3(UNC13D):c.1389+16T>A
NM_199242.3(UNC13D):c.1389+16T>C
NM_199242.3(UNC13D):c.1389+18G>A rs2143881408
NM_199242.3(UNC13D):c.1389+6G>A rs2143881463
NM_199242.3(UNC13D):c.1390-11T>G
NM_199242.3(UNC13D):c.1390-14C>T
NM_199242.3(UNC13D):c.1390-19A>G
NM_199242.3(UNC13D):c.1390-20C>T
NM_199242.3(UNC13D):c.1390-5G>A
NM_199242.3(UNC13D):c.1390-6C>G
NM_199242.3(UNC13D):c.1391C>T (p.Thr464Ile)
NM_199242.3(UNC13D):c.1393G>A (p.Gly465Ser)
NM_199242.3(UNC13D):c.1398C>T (p.Thr466=)
NM_199242.3(UNC13D):c.1408T>C (p.Phe470Leu) rs886053423
NM_199242.3(UNC13D):c.1414C>T (p.Leu472=) rs151134723
NM_199242.3(UNC13D):c.1428C>T (p.His476=)
NM_199242.3(UNC13D):c.1437C>A (p.Pro479=)
NM_199242.3(UNC13D):c.1443G>A (p.Val481=)
NM_199242.3(UNC13D):c.1446+11G>T
NM_199242.3(UNC13D):c.1446+14C>T
NM_199242.3(UNC13D):c.1446+18G>A
NM_199242.3(UNC13D):c.1446+20G>A
NM_199242.3(UNC13D):c.1447-10G>A
NM_199242.3(UNC13D):c.1447-17C>A
NM_199242.3(UNC13D):c.1447-17C>T rs375860793
NM_199242.3(UNC13D):c.1447-4G>A
NM_199242.3(UNC13D):c.1447-4G>T
NM_199242.3(UNC13D):c.1447-6C>T
NM_199242.3(UNC13D):c.1448G>A (p.Gly483Asp)
NM_199242.3(UNC13D):c.1449C>A (p.Gly483=)
NM_199242.3(UNC13D):c.1452C>A (p.Ile484=)
NM_199242.3(UNC13D):c.1454C>T (p.Pro485Leu) rs550974990
NM_199242.3(UNC13D):c.1455G>A (p.Pro485=)
NM_199242.3(UNC13D):c.1458G>A (p.Glu486=)
NM_199242.3(UNC13D):c.1472T>A (p.Leu491Ter) rs1555601754
NM_199242.3(UNC13D):c.1474C>T (p.Leu492=) rs1459099488
NM_199242.3(UNC13D):c.147C>G (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.147C>T (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.1482G>C (p.Leu494=)
NM_199242.3(UNC13D):c.1486C>T (p.Gln496Ter)
NM_199242.3(UNC13D):c.1487A>G (p.Gln496Arg) rs2143880587
NM_199242.3(UNC13D):c.148G>T (p.Glu50Ter)
NM_199242.3(UNC13D):c.1501G>A (p.Asp501Asn)
NM_199242.3(UNC13D):c.150G>A (p.Glu50=)
NM_199242.3(UNC13D):c.151C>T (p.Gln51Ter)
NM_199242.3(UNC13D):c.1521C>T (p.Arg507=)
NM_199242.3(UNC13D):c.1524A>G (p.Thr508=) rs998868036
NM_199242.3(UNC13D):c.153+10dup
NM_199242.3(UNC13D):c.153+14_153+28del rs2064964147
NM_199242.3(UNC13D):c.153+17T>C
NM_199242.3(UNC13D):c.153+1G>A
NM_199242.3(UNC13D):c.153+20G>C
NM_199242.3(UNC13D):c.153+8_153+11del
NM_199242.3(UNC13D):c.1533G>T (p.Lys511Asn) rs2064906221
NM_199242.3(UNC13D):c.1539C>T (p.Phe513=)
NM_199242.3(UNC13D):c.154-10T>C
NM_199242.3(UNC13D):c.154-11G>A
NM_199242.3(UNC13D):c.154-11G>C
NM_199242.3(UNC13D):c.154-17G>T
NM_199242.3(UNC13D):c.154-1G>T
NM_199242.3(UNC13D):c.154-9G>A rs2064962405
NM_199242.3(UNC13D):c.1542C>T (p.His514=)
NM_199242.3(UNC13D):c.1544+10T>C
NM_199242.3(UNC13D):c.1544+20G>A
NM_199242.3(UNC13D):c.1544+20G>C
NM_199242.3(UNC13D):c.1545-10T>C
NM_199242.3(UNC13D):c.1545-12C>G
NM_199242.3(UNC13D):c.1545-13G>C
NM_199242.3(UNC13D):c.1545-15C>T
NM_199242.3(UNC13D):c.1545-19C>A
NM_199242.3(UNC13D):c.1545-19C>G
NM_199242.3(UNC13D):c.1545-2A>G rs766615729
NM_199242.3(UNC13D):c.1545-4C>A rs2143880120
NM_199242.3(UNC13D):c.1545-4C>T
NM_199242.3(UNC13D):c.1545-8T>C
NM_199242.3(UNC13D):c.1548C>G (p.Thr516=)
NM_199242.3(UNC13D):c.1548C>T (p.Thr516=)
NM_199242.3(UNC13D):c.154C>T (p.Arg52Trp)
NM_199242.3(UNC13D):c.1562T>C (p.Leu521Pro)
NM_199242.3(UNC13D):c.1563C>T (p.Leu521=)
NM_199242.3(UNC13D):c.1566C>T (p.Phe522=)
NM_199242.3(UNC13D):c.1574C>T (p.Ala525Val) rs2064905120
NM_199242.3(UNC13D):c.1575T>C (p.Ala525=)
NM_199242.3(UNC13D):c.1590G>A (p.Gln530=)
NM_199242.3(UNC13D):c.1596+11C>A rs543412754
NM_199242.3(UNC13D):c.1596+11C>G
NM_199242.3(UNC13D):c.1596+12C>T
NM_199242.3(UNC13D):c.1596+13C>T
NM_199242.3(UNC13D):c.1596+13_1596+15del
NM_199242.3(UNC13D):c.1596+15C>G rs574478720
NM_199242.3(UNC13D):c.1596+15C>T
NM_199242.3(UNC13D):c.1596+18C>T
NM_199242.3(UNC13D):c.1596+1del
NM_199242.3(UNC13D):c.1596+9del
NM_199242.3(UNC13D):c.1597-10T>A
NM_199242.3(UNC13D):c.1597-13C>T
NM_199242.3(UNC13D):c.1597-17A>G
NM_199242.3(UNC13D):c.1599G>A (p.Val533=)
NM_199242.3(UNC13D):c.1606C>A (p.Arg536=)
NM_199242.3(UNC13D):c.1606C>G (p.Arg536Gly) rs780530249
NM_199242.3(UNC13D):c.1607G>A (p.Arg536Gln) rs143305366
NM_199242.3(UNC13D):c.1607G>T (p.Arg536Leu) rs143305366
NM_199242.3(UNC13D):c.1609G>A (p.Val537Met)
NM_199242.3(UNC13D):c.160del (p.Leu54fs)
NM_199242.3(UNC13D):c.1621_1622del (p.Thr541fs)
NM_199242.3(UNC13D):c.1629T>C (p.Val543=) rs2143879473
NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)
NM_199242.3(UNC13D):c.1643T>C (p.Val548Ala)
NM_199242.3(UNC13D):c.1644G>A (p.Val548=)
NM_199242.3(UNC13D):c.1650del (p.Glu551fs) rs1442964152
NM_199242.3(UNC13D):c.1655T>C (p.Met552Thr)
NM_199242.3(UNC13D):c.1661A>G (p.Glu554Gly)
NM_199242.3(UNC13D):c.1663_1664del (p.Leu556fs)
NM_199242.3(UNC13D):c.1668G>A (p.Leu556=)
NM_199242.3(UNC13D):c.1681A>G (p.Ile561Val)
NM_199242.3(UNC13D):c.168C>T (p.Tyr56=)
NM_199242.3(UNC13D):c.169_172del (p.Glu57fs)
NM_199242.3(UNC13D):c.170del (p.Glu57fs)
NM_199242.3(UNC13D):c.1712T>G (p.Met571Arg) rs2143879204
NM_199242.3(UNC13D):c.1715G>C (p.Ser572Thr) rs894427230
NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)
NM_199242.3(UNC13D):c.1722A>G (p.Ser574=)
NM_199242.3(UNC13D):c.1727+16A>G
NM_199242.3(UNC13D):c.1727+17T>C
NM_199242.3(UNC13D):c.1727+20T>C
NM_199242.3(UNC13D):c.1728-12G>C
NM_199242.3(UNC13D):c.1728-13C>G
NM_199242.3(UNC13D):c.1728-13C>T rs745855631
NM_199242.3(UNC13D):c.1728-15C>A
NM_199242.3(UNC13D):c.1728-2A>C
NM_199242.3(UNC13D):c.1728-4C>T
NM_199242.3(UNC13D):c.1728-5C>T
NM_199242.3(UNC13D):c.174C>T (p.Asp58=)
NM_199242.3(UNC13D):c.1754dup (p.His586fs) rs796065026
NM_199242.3(UNC13D):c.1758C>T (p.His586=) rs759891490
NM_199242.3(UNC13D):c.1760G>T (p.Arg587Leu) rs201600711
NM_199242.3(UNC13D):c.1763G>A (p.Trp588Ter)
NM_199242.3(UNC13D):c.1768C>T (p.Gln590Ter) rs1567818774
NM_199242.3(UNC13D):c.1773G>A (p.Pro591=) rs367988204
NM_199242.3(UNC13D):c.1779C>T (p.Ile593=)
NM_199242.3(UNC13D):c.177_178del (p.Tyr61fs) rs1234936765
NM_199242.3(UNC13D):c.1781C>T (p.Pro594Leu) rs1397601840
NM_199242.3(UNC13D):c.1782C>A (p.Pro594=)
NM_199242.3(UNC13D):c.178C>T (p.Leu60Phe)
NM_199242.3(UNC13D):c.1791G>A (p.Leu597=)
NM_199242.3(UNC13D):c.1792C>T (p.Gln598Ter) rs1422897832
NM_199242.3(UNC13D):c.17C>T (p.Ser6Phe) rs2143904920
NM_199242.3(UNC13D):c.1800G>A (p.Thr600=)
NM_199242.3(UNC13D):c.1806C>T (p.Asn602=)
NM_199242.3(UNC13D):c.1807G>A (p.Glu603Lys)
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.180C>G (p.Leu60=)
NM_199242.3(UNC13D):c.1818G>T (p.Ala606=)
NM_199242.3(UNC13D):c.1819C>T (p.Arg607Trp) rs374106771
NM_199242.3(UNC13D):c.181T>C (p.Tyr61His) rs2143901173
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.1821G>C (p.Arg607=)
NM_199242.3(UNC13D):c.1825C>T (p.Gln609Ter)
NM_199242.3(UNC13D):c.1828C>T (p.Arg610Cys)
NM_199242.3(UNC13D):c.1828_1839del (p.Arg610_Gln613del) rs796065024
NM_199242.3(UNC13D):c.1830C>A (p.Arg610=)
NM_199242.3(UNC13D):c.1831G>A (p.Ala611Thr)
NM_199242.3(UNC13D):c.1833T>A (p.Ala611=)
NM_199242.3(UNC13D):c.183C>T (p.Tyr61=)
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly) rs754621494
NM_199242.3(UNC13D):c.1848+12G>A
NM_199242.3(UNC13D):c.1848+12G>T rs1007029165
NM_199242.3(UNC13D):c.1848+13C>G
NM_199242.3(UNC13D):c.1848+14C>T
NM_199242.3(UNC13D):c.1848+14_1848+19del
NM_199242.3(UNC13D):c.1848+17G>C
NM_199242.3(UNC13D):c.1848+18G>A
NM_199242.3(UNC13D):c.1848+1G>A
NM_199242.3(UNC13D):c.1848+1G>C
NM_199242.3(UNC13D):c.1848+2_1848+4del
NM_199242.3(UNC13D):c.1848+9G>A
NM_199242.3(UNC13D):c.1848+9G>T
NM_199242.3(UNC13D):c.1849-14C>T
NM_199242.3(UNC13D):c.1849-14del
NM_199242.3(UNC13D):c.1849-15C>T
NM_199242.3(UNC13D):c.1849-3C>T rs971483041
NM_199242.3(UNC13D):c.1857C>T (p.Pro619=) rs2143877155
NM_199242.3(UNC13D):c.1858C>T (p.Leu620=) rs2143877150
NM_199242.3(UNC13D):c.1860G>A (p.Leu620=) rs1202634265
NM_199242.3(UNC13D):c.1867C>A (p.Leu623Met) rs1461192239
NM_199242.3(UNC13D):c.1872C>G (p.Thr624=)
NM_199242.3(UNC13D):c.1872C>T (p.Thr624=)
NM_199242.3(UNC13D):c.1875G>A (p.Lys625=)
NM_199242.3(UNC13D):c.1878C>T (p.His626=)
NM_199242.3(UNC13D):c.1884A>G (p.Thr628=)
NM_199242.3(UNC13D):c.1889C>T (p.Ala630Val)
NM_199242.3(UNC13D):c.1890G>C (p.Ala630=) rs753021453
NM_199242.3(UNC13D):c.1894G>A (p.Asp632Asn) rs762778765
NM_199242.3(UNC13D):c.1902C>T (p.Ser634=)
NM_199242.3(UNC13D):c.1904C>T (p.Thr635Ile) rs2064897469
NM_199242.3(UNC13D):c.1930G>A (p.Ala644Thr) rs2143876974
NM_199242.3(UNC13D):c.1953_1959del (p.Asp651fs)
NM_199242.3(UNC13D):c.1955C>T (p.Pro652Leu) rs746256202
NM_199242.3(UNC13D):c.1959G>A (p.Glu653=)
NM_199242.3(UNC13D):c.197G>T (p.Arg66Leu) rs371943727
NM_199242.3(UNC13D):c.1981A>C (p.Lys661Gln)
NM_199242.3(UNC13D):c.1985T>C (p.Phe662Ser) rs2064896757
NM_199242.3(UNC13D):c.1986T>C (p.Phe662=)
NM_199242.3(UNC13D):c.1992+13C>T
NM_199242.3(UNC13D):c.1992+16C>T
NM_199242.3(UNC13D):c.1992+17G>A
NM_199242.3(UNC13D):c.1992+4C>T rs764950480
NM_199242.3(UNC13D):c.1992+5G>T rs17581728
NM_199242.3(UNC13D):c.1992+8A>G
NM_199242.3(UNC13D):c.1992G>C (p.Glu664Asp)
NM_199242.3(UNC13D):c.1993-11C>T
NM_199242.3(UNC13D):c.1993-14C>T
NM_199242.3(UNC13D):c.1993-15C>G
NM_199242.3(UNC13D):c.1993-4C>T
NM_199242.3(UNC13D):c.1993-6C>T
NM_199242.3(UNC13D):c.1993-8C>T rs2143876230
NM_199242.3(UNC13D):c.1995C>T (p.Asp665=)
NM_199242.3(UNC13D):c.1998C>A (p.Thr666=)
NM_199242.3(UNC13D):c.199C>T (p.Leu67=)
NM_199242.3(UNC13D):c.2013G>C (p.Leu671=)
NM_199242.3(UNC13D):c.2022C>T (p.Cys674=)
NM_199242.3(UNC13D):c.202G>A (p.Gly68Ser)
NM_199242.3(UNC13D):c.2030T>C (p.Ile677Thr)
NM_199242.3(UNC13D):c.2035G>T (p.Ala679Ser) rs1321621237
NM_199242.3(UNC13D):c.2037_2038insG (p.Arg680fs) rs2143876026
NM_199242.3(UNC13D):c.2039G>A (p.Arg680Gln) rs201324352
NM_199242.3(UNC13D):c.203del (p.Gly68fs)
NM_199242.3(UNC13D):c.2042C>A (p.Ala681Asp) rs202113667
NM_199242.3(UNC13D):c.2044C>A (p.Arg682Ser) rs755931780
NM_199242.3(UNC13D):c.2045G>A (p.Arg682His) rs145366134
NM_199242.3(UNC13D):c.2046C>A (p.Arg682=)
NM_199242.3(UNC13D):c.2046C>T (p.Arg682=) rs139837456
NM_199242.3(UNC13D):c.2047G>A (p.Glu683Lys) rs766154876
NM_199242.3(UNC13D):c.2047G>C (p.Glu683Gln) rs766154876
NM_199242.3(UNC13D):c.2049G>A (p.Glu683=)
NM_199242.3(UNC13D):c.2060G>A (p.Gly687Asp) rs1054138754
NM_199242.3(UNC13D):c.2063A>C (p.Gln688Pro)
NM_199242.3(UNC13D):c.2063A>G (p.Gln688Arg) rs777159773
NM_199242.3(UNC13D):c.2074G>A (p.Gly692Ser) rs2143875873
NM_199242.3(UNC13D):c.2085C>T (p.Ala695=)
NM_199242.3(UNC13D):c.2089A>G (p.Met697Val) rs977219681
NM_199242.3(UNC13D):c.2091+12G>T rs2143875813
NM_199242.3(UNC13D):c.2091+7C>G
NM_199242.3(UNC13D):c.2091+8C>T
NM_199242.3(UNC13D):c.2092-7G>A rs2143875673
NM_199242.3(UNC13D):c.2092-7G>C rs2143875673
NM_199242.3(UNC13D):c.2094G>C (p.Leu698=) rs1180742786
NM_199242.3(UNC13D):c.2095T>C (p.Cys699Arg)
NM_199242.3(UNC13D):c.2096G>A (p.Cys699Tyr) rs2064893465
NM_199242.3(UNC13D):c.2098G>T (p.Val700Leu) rs1599407040
NM_199242.3(UNC13D):c.2101G>C (p.Val701Leu)
NM_199242.3(UNC13D):c.2106G>A (p.Val702=)
NM_199242.3(UNC13D):c.2108A>G (p.Asn703Ser)
NM_199242.3(UNC13D):c.2118G>A (p.Glu706=)
NM_199242.3(UNC13D):c.2125C>A (p.Arg709=)
NM_199242.3(UNC13D):c.2125C>T (p.Arg709Trp) rs548101215
NM_199242.3(UNC13D):c.2128C>T (p.Leu710=) rs2143875531
NM_199242.3(UNC13D):c.2133G>A (p.Val711=)
NM_199242.3(UNC13D):c.2136C>G (p.Ile712Met) rs112245411
NM_199242.3(UNC13D):c.2136C>T (p.Ile712=) rs112245411
NM_199242.3(UNC13D):c.2160A>T (p.Ala720=)
NM_199242.3(UNC13D):c.2161T>C (p.Trp721Arg)
NM_199242.3(UNC13D):c.2166G>A (p.Glu722=)
NM_199242.3(UNC13D):c.216del (p.Asn73fs) rs796065025
NM_199242.3(UNC13D):c.2171T>A (p.Leu724Gln)
NM_199242.3(UNC13D):c.2184A>G (p.Val728=)
NM_199242.3(UNC13D):c.2188del (p.Ala730fs)
NM_199242.3(UNC13D):c.2190C>T (p.Ala730=)
NM_199242.3(UNC13D):c.2207del (p.Gln736fs)
NM_199242.3(UNC13D):c.2214G>A (p.Gln738=)
NM_199242.3(UNC13D):c.2226T>C (p.His742=)
NM_199242.3(UNC13D):c.2229C>T (p.Ala743=) rs1599406871
NM_199242.3(UNC13D):c.222T>C (p.His74=)
NM_199242.3(UNC13D):c.2239A>G (p.Ser747Gly)
NM_199242.3(UNC13D):c.2240G>A (p.Ser747Asn)
NM_199242.3(UNC13D):c.2241C>A (p.Ser747Arg) rs372453702
NM_199242.3(UNC13D):c.2244G>A (p.Ala748=)
NM_199242.3(UNC13D):c.2250C>G (p.Ala750=) rs146737486
NM_199242.3(UNC13D):c.2253G>A (p.Gly751=) rs1240535601
NM_199242.3(UNC13D):c.2253G>T (p.Gly751=)
NM_199242.3(UNC13D):c.2256G>A (p.Leu752=)
NM_199242.3(UNC13D):c.2256G>T (p.Leu752=) rs2143874976
NM_199242.3(UNC13D):c.2259C>A (p.Gly753=) rs1354115593
NM_199242.3(UNC13D):c.2259C>T (p.Gly753=)
NM_199242.3(UNC13D):c.2264_2265insCC (p.Glu755fs)
NM_199242.3(UNC13D):c.2267del (p.Ile756fs)
NM_199242.3(UNC13D):c.2269C>T (p.Arg757Cys) rs1207229316
NM_199242.3(UNC13D):c.2271C>T (p.Arg757=)
NM_199242.3(UNC13D):c.2278G>C (p.Val760Leu) rs143264522
NM_199242.3(UNC13D):c.228G>A (p.Thr76=) rs747513643
NM_199242.3(UNC13D):c.228G>C (p.Thr76=)
NM_199242.3(UNC13D):c.2292C>T (p.Ala764=)
NM_199242.3(UNC13D):c.2293G>T (p.Glu765Ter) rs763117746
NM_199242.3(UNC13D):c.2295G>A (p.Glu765=)
NM_199242.3(UNC13D):c.2296C>T (p.Gln766Ter)
NM_199242.3(UNC13D):c.2298+12G>A
NM_199242.3(UNC13D):c.2298+14C>T
NM_199242.3(UNC13D):c.2298+16G>A
NM_199242.3(UNC13D):c.2298+16G>C
NM_199242.3(UNC13D):c.2298+18A>C
NM_199242.3(UNC13D):c.2298+18A>G
NM_199242.3(UNC13D):c.2298+19C>T
NM_199242.3(UNC13D):c.2298+19_2298+20del rs2143874512
NM_199242.3(UNC13D):c.2298+20A>G
NM_199242.3(UNC13D):c.2299-15G>A rs765565016
NM_199242.3(UNC13D):c.2299-16C>T
NM_199242.3(UNC13D):c.2299-19_2299-17del
NM_199242.3(UNC13D):c.2299-8_2299-7del
NM_199242.3(UNC13D):c.2308G>A (p.Gly770Ser)
NM_199242.3(UNC13D):c.2309del (p.Gly770fs)
NM_199242.3(UNC13D):c.2313C>T (p.Ile771=)
NM_199242.3(UNC13D):c.2334G>A (p.Leu778=)
NM_199242.3(UNC13D):c.2337G>A (p.Val779=) rs2143873738
NM_199242.3(UNC13D):c.2346G>C (p.Arg782Ser)
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_199242.3(UNC13D):c.2349G>C (p.Glu783Asp)
NM_199242.3(UNC13D):c.2356C>T (p.Leu786=)
NM_199242.3(UNC13D):c.2358G>T (p.Leu786=)
NM_199242.3(UNC13D):c.2367+16G>T rs1049703211
NM_199242.3(UNC13D):c.2367+17C>T
NM_199242.3(UNC13D):c.2367+8G>T
NM_199242.3(UNC13D):c.2368-15C>T
NM_199242.3(UNC13D):c.2368-18C>G
NM_199242.3(UNC13D):c.2368-19_2368-18delinsCT
NM_199242.3(UNC13D):c.2368-6C>G
NM_199242.3(UNC13D):c.2368-6C>T rs776391631
NM_199242.3(UNC13D):c.2368G>C (p.Ala790Pro) rs865794224
NM_199242.3(UNC13D):c.237T>C (p.Ser79=)
NM_199242.3(UNC13D):c.2380C>A (p.Leu794Met) rs1166719662
NM_199242.3(UNC13D):c.2380C>T (p.Leu794=) rs1166719662
NM_199242.3(UNC13D):c.2381del (p.Leu794fs) rs2064882892
NM_199242.3(UNC13D):c.2392C>T (p.Leu798=)
NM_199242.3(UNC13D):c.2398G>A (p.Val800Met)
NM_199242.3(UNC13D):c.2403G>A (p.Glu801=)
NM_199242.3(UNC13D):c.2404C>G (p.Leu802Val)
NM_199242.3(UNC13D):c.240G>A (p.Glu80=)
NM_199242.3(UNC13D):c.2413A>G (p.Met805Val)
NM_199242.3(UNC13D):c.2425T>C (p.Leu809=)
NM_199242.3(UNC13D):c.2427G>A (p.Leu809=)
NM_199242.3(UNC13D):c.2430G>A (p.Val810=)
NM_199242.3(UNC13D):c.2430G>T (p.Val810=)
NM_199242.3(UNC13D):c.2434G>T (p.Glu812Ter)
NM_199242.3(UNC13D):c.2438A>T (p.Asn813Ile)
NM_199242.3(UNC13D):c.2447+14C>T
NM_199242.3(UNC13D):c.2447+19C>A
NM_199242.3(UNC13D):c.2447+2T>C
NM_199242.3(UNC13D):c.2447+5G>A
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.2448-13G>C
NM_199242.3(UNC13D):c.2448-17C>G
NM_199242.3(UNC13D):c.2448-18C>T
NM_199242.3(UNC13D):c.2448-5C>A
NM_199242.3(UNC13D):c.2448-6C>T
NM_199242.3(UNC13D):c.2448-7G>C rs537787945
NM_199242.3(UNC13D):c.2448-7_2448-6insA rs771513070
NM_199242.3(UNC13D):c.2448-8_2448-7insT
NM_199242.3(UNC13D):c.2448-8dup rs3217698
NM_199242.3(UNC13D):c.2451C>T (p.Leu817=)
NM_199242.3(UNC13D):c.2452C>A (p.Leu818Met) rs2143867670
NM_199242.3(UNC13D):c.2456C>T (p.Thr819Ile)
NM_199242.3(UNC13D):c.2457C>G (p.Thr819=)
NM_199242.3(UNC13D):c.2457C>T (p.Thr819=)
NM_199242.3(UNC13D):c.2466G>T (p.Trp822Cys) rs2143867645
NM_199242.3(UNC13D):c.2466del (p.Leu821_Trp822insTer)
NM_199242.3(UNC13D):c.2471A>G (p.His824Arg) rs759207238
NM_199242.3(UNC13D):c.2472C>T (p.His824=)
NM_199242.3(UNC13D):c.2473A>C (p.Thr825Pro) rs1330364586
NM_199242.3(UNC13D):c.2475_2476dup (p.Leu826fs)
NM_199242.3(UNC13D):c.2477_2480del (p.Leu826fs) rs1446025324
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter) rs1274685768
NM_199242.3(UNC13D):c.2480C>A (p.Thr827Lys) rs1163818709
NM_199242.3(UNC13D):c.2496G>T (p.Ala832=)
NM_199242.3(UNC13D):c.2502C>T (p.Ala834=)
NM_199242.3(UNC13D):c.2506C>T (p.Gln836Ter) rs768875290
NM_199242.3(UNC13D):c.2509C>T (p.Arg837Cys)
NM_199242.3(UNC13D):c.2517A>T (p.Ser839=)
NM_199242.3(UNC13D):c.2522T>C (p.Leu841Pro)
NM_199242.3(UNC13D):c.2524G>T (p.Ala842Ser) rs2143867469
NM_199242.3(UNC13D):c.2525C>T (p.Ala842Val) rs749065266
NM_199242.3(UNC13D):c.252C>A (p.Tyr84Ter)
NM_199242.3(UNC13D):c.2541G>T (p.Lys847Asn) rs2143867438
NM_199242.3(UNC13D):c.2553+11C>A
NM_199242.3(UNC13D):c.2553+11C>G rs774613615
NM_199242.3(UNC13D):c.2553+11C>T rs774613615
NM_199242.3(UNC13D):c.2553+13G>A
NM_199242.3(UNC13D):c.2553+14T>G
NM_199242.3(UNC13D):c.2553+7G>C
NM_199242.3(UNC13D):c.2554-10T>C
NM_199242.3(UNC13D):c.2554-11A>G rs886053422
NM_199242.3(UNC13D):c.2554-16C>A rs184354110
NM_199242.3(UNC13D):c.2554-18C>T
NM_199242.3(UNC13D):c.2554-5C>T
NM_199242.3(UNC13D):c.2554-7C>T rs1567817114
NM_199242.3(UNC13D):c.2557C>T (p.Leu853=)
NM_199242.3(UNC13D):c.2565C>G (p.Ile855Met) rs1411846980
NM_199242.3(UNC13D):c.2570T>G (p.Phe857Cys) rs121434354
NM_199242.3(UNC13D):c.2577T>C (p.Ala859=)
NM_199242.3(UNC13D):c.2582G>C (p.Gly861Ala)
NM_199242.3(UNC13D):c.2585G>A (p.Cys862Tyr) rs2064869565
NM_199242.3(UNC13D):c.2589C>G (p.Gly863=) rs181621682
NM_199242.3(UNC13D):c.258_261+16del
NM_199242.3(UNC13D):c.2590C>G (p.Leu864Val) rs765645010
NM_199242.3(UNC13D):c.2590C>T (p.Leu864=)
NM_199242.3(UNC13D):c.2598_2599inv (p.Lys867Glu)
NM_199242.3(UNC13D):c.261+11C>T
NM_199242.3(UNC13D):c.261+17C>A rs2143900774
NM_199242.3(UNC13D):c.261+17C>T
NM_199242.3(UNC13D):c.261+18C>T
NM_199242.3(UNC13D):c.261+19C>T
NM_199242.3(UNC13D):c.261+8C>A
NM_199242.3(UNC13D):c.261+8C>G
NM_199242.3(UNC13D):c.262-18C>G
NM_199242.3(UNC13D):c.262-1G>A
NM_199242.3(UNC13D):c.262-9C>T
NM_199242.3(UNC13D):c.2625+13_2625+14insAA
NM_199242.3(UNC13D):c.2625+18G>A
NM_199242.3(UNC13D):c.2625+18G>C
NM_199242.3(UNC13D):c.2625+1G>A
NM_199242.3(UNC13D):c.270C>T (p.His90=)
NM_199242.3(UNC13D):c.277C>A (p.Pro93Thr)
NM_199242.3(UNC13D):c.279C>G (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup) rs772459675
NM_199242.3(UNC13D):c.286C>T (p.His96Tyr)
NM_199242.3(UNC13D):c.288C>G (p.His96Gln)
NM_199242.3(UNC13D):c.291G>A (p.Gln97=)
NM_199242.3(UNC13D):c.2955-11T>A
NM_199242.3(UNC13D):c.2955-12C>G
NM_199242.3(UNC13D):c.2955-16del
NM_199242.3(UNC13D):c.2955-18C>G
NM_199242.3(UNC13D):c.2955-19G>A rs1229155468
NM_199242.3(UNC13D):c.2955-19G>C
NM_199242.3(UNC13D):c.2955-1G>A rs1041960684
NM_199242.3(UNC13D):c.2955-6C>T rs753334662
NM_199242.3(UNC13D):c.2955-7C>G
NM_199242.3(UNC13D):c.2955-9T>G
NM_199242.3(UNC13D):c.2955-9_2955-8del
NM_199242.3(UNC13D):c.2955C>G (p.Phe985Leu) rs2143861441
NM_199242.3(UNC13D):c.2960T>C (p.Val987Ala)
NM_199242.3(UNC13D):c.2963C>T (p.Pro988Leu) rs1458684382
NM_199242.3(UNC13D):c.2965G>A (p.Ala989Thr) rs1177653533
NM_199242.3(UNC13D):c.296C>T (p.Thr99Ile)
NM_199242.3(UNC13D):c.2977C>A (p.Arg993Ser) rs759922688
NM_199242.3(UNC13D):c.2978G>T (p.Arg993Leu) rs140452589
NM_199242.3(UNC13D):c.2979C>T (p.Arg993=)
NM_199242.3(UNC13D):c.2982G>A (p.Lys994=)
NM_199242.3(UNC13D):c.2988G>A (p.Gly996=)
NM_199242.3(UNC13D):c.2997C>T (p.Leu999=)
NM_199242.3(UNC13D):c.3000G>T (p.Leu1000=)
NM_199242.3(UNC13D):c.3001C>T (p.Leu1001Phe) rs1797449728
NM_199242.3(UNC13D):c.3003C>A (p.Leu1001=) rs1282273933
NM_199242.3(UNC13D):c.3006del (p.Val1003fs) rs2143861305
NM_199242.3(UNC13D):c.3009G>A (p.Val1003=)
NM_199242.3(UNC13D):c.3010C>T (p.Leu1004=)
NM_199242.3(UNC13D):c.3011_3014dup (p.Tyr1006fs) rs1567816070
NM_199242.3(UNC13D):c.3012G>A (p.Leu1004=)
NM_199242.3(UNC13D):c.3013G>A (p.Asp1005Asn)
NM_199242.3(UNC13D):c.3018C>G (p.Tyr1006Ter) rs775862197
NM_199242.3(UNC13D):c.3019G>A (p.Asp1007Asn)
NM_199242.3(UNC13D):c.3024G>A (p.Thr1008=) rs562357679
NM_199242.3(UNC13D):c.3024G>C (p.Thr1008=)
NM_199242.3(UNC13D):c.302A>G (p.Gln101Arg) rs1280197502
NM_199242.3(UNC13D):c.3032C>A (p.Ala1011Asp)
NM_199242.3(UNC13D):c.3033C>A (p.Ala1011=)
NM_199242.3(UNC13D):c.3039C>T (p.Asp1013=) rs769897808
NM_199242.3(UNC13D):c.3043del (p.Glu1015fs)
NM_199242.3(UNC13D):c.3044A>G (p.Glu1015Gly) rs2062141978
NM_199242.3(UNC13D):c.3048C>T (p.Gly1016=) rs111279039
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_199242.3(UNC13D):c.3061_3067del (p.Pro1021fs)
NM_199242.3(UNC13D):c.3063G>A (p.Pro1021=)
NM_199242.3(UNC13D):c.3063G>T (p.Pro1021=) rs755709094
NM_199242.3(UNC13D):c.3075G>T (p.Val1025=) rs750974136
NM_199242.3(UNC13D):c.3077C>T (p.Pro1026Leu) rs765680080
NM_199242.3(UNC13D):c.3078C>G (p.Pro1026=) rs372034111
NM_199242.3(UNC13D):c.3080G>C (p.Gly1027Ala) rs768608291
NM_199242.3(UNC13D):c.3082C>G (p.Leu1028Val) rs2062141511
NM_199242.3(UNC13D):c.30G>A (p.Gln10=)
NM_199242.3(UNC13D):c.30G>T (p.Gln10His) rs1316667053
NM_199242.3(UNC13D):c.3103G>A (p.Gly1035Ser)
NM_199242.3(UNC13D):c.3118A>G (p.Thr1040Ala) rs773314418
NM_199242.3(UNC13D):c.3135G>A (p.Thr1045=)
NM_199242.3(UNC13D):c.3141C>T (p.Pro1047=)
NM_199242.3(UNC13D):c.3147C>A (p.Pro1049=)
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs) rs1048876742
NM_199242.3(UNC13D):c.3149A>G (p.Asn1050Ser)
NM_199242.3(UNC13D):c.3151+13C>G
NM_199242.3(UNC13D):c.3151+15A>C
NM_199242.3(UNC13D):c.3151+17G>T
NM_199242.3(UNC13D):c.3151+18G>A
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg) rs1232542382
NM_199242.3(UNC13D):c.3152-10C>G
NM_199242.3(UNC13D):c.3152-11TC[2] rs1308040427
NM_199242.3(UNC13D):c.3152-12C>T
NM_199242.3(UNC13D):c.3152-14C>T
NM_199242.3(UNC13D):c.3152-15C>T
NM_199242.3(UNC13D):c.3152-19del
NM_199242.3(UNC13D):c.3152-8C>T
NM_199242.3(UNC13D):c.3153G>T (p.Gly1051=)
NM_199242.3(UNC13D):c.3159A>G (p.Pro1053=)
NM_199242.3(UNC13D):c.315G>A (p.Glu105=)
NM_199242.3(UNC13D):c.3170T>C (p.Leu1057Pro)
NM_199242.3(UNC13D):c.3183G>C (p.Arg1061=) rs2143858841
NM_199242.3(UNC13D):c.3183del (p.Lys1062fs)
NM_199242.3(UNC13D):c.3192C>A (p.Asp1064Glu)
NM_199242.3(UNC13D):c.3193C>G (p.Arg1065Gly) rs774921373
NM_199242.3(UNC13D):c.3193C>T (p.Arg1065Ter)
NM_199242.3(UNC13D):c.3194G>A (p.Arg1065Gln)
NM_199242.3(UNC13D):c.3194del (p.Arg1065fs)
NM_199242.3(UNC13D):c.3195A>G (p.Arg1065=)
NM_199242.3(UNC13D):c.31C>T (p.Arg11Cys)
NM_199242.3(UNC13D):c.3201C>G (p.Ala1067=)
NM_199242.3(UNC13D):c.3201C>T (p.Ala1067=)
NM_199242.3(UNC13D):c.3204G>C (p.Gln1068His)
NM_199242.3(UNC13D):c.321+17G>A
NM_199242.3(UNC13D):c.321+18T>C rs2143900206
NM_199242.3(UNC13D):c.321+19C>T
NM_199242.3(UNC13D):c.321+1_321+2del rs2064960126
NM_199242.3(UNC13D):c.321+2T>G
NM_199242.3(UNC13D):c.321+3A>T rs2143900299
NM_199242.3(UNC13D):c.321+7T>A
NM_199242.3(UNC13D):c.321+7T>C
NM_199242.3(UNC13D):c.321+9G>A rs779684660
NM_199242.3(UNC13D):c.3210T>C (p.Phe1070=)
NM_199242.3(UNC13D):c.3215G>C (p.Arg1072Thr)
NM_199242.3(UNC13D):c.322-11dup
NM_199242.3(UNC13D):c.322-12C>T
NM_199242.3(UNC13D):c.322-13C>A rs2064959329
NM_199242.3(UNC13D):c.322-15C>T
NM_199242.3(UNC13D):c.322-17C>T
NM_199242.3(UNC13D):c.322-4C>T
NM_199242.3(UNC13D):c.322-6del
NM_199242.3(UNC13D):c.3224G>T (p.Arg1075Leu) rs377594755
NM_199242.3(UNC13D):c.3230G>A (p.Arg1077Gln) rs560279707
NM_199242.3(UNC13D):c.3236del (p.Lys1079fs) rs763287992
NM_199242.3(UNC13D):c.323A>G (p.Lys108Arg) rs2064959179
NM_199242.3(UNC13D):c.3249G>A (p.Gln1083=)
NM_199242.3(UNC13D):c.3254C>A (p.Ala1085Asp)
NM_199242.3(UNC13D):c.3254C>G (p.Ala1085Gly)
NM_199242.3(UNC13D):c.3254C>T (p.Ala1085Val) rs778060284
NM_199242.3(UNC13D):c.3268C>T (p.Pro1090Ser) rs1332768685
NM_199242.3(UNC13D):c.3270G>T (p.Pro1090=)
NM_199242.3(UNC13D):c.32G>A (p.Arg11His) rs574927621
NM_199242.3(UNC13D):c.336T>C (p.Cys112=)
NM_199242.3(UNC13D):c.337C>T (p.Leu113=) rs1599415178
NM_199242.3(UNC13D):c.348A>G (p.Thr116=)
NM_199242.3(UNC13D):c.366C>T (p.Gly122=)
NM_199242.3(UNC13D):c.388+12G>A
NM_199242.3(UNC13D):c.388+12G>T
NM_199242.3(UNC13D):c.388+14G>A
NM_199242.3(UNC13D):c.388+15G>C
NM_199242.3(UNC13D):c.388+16G>A
NM_199242.3(UNC13D):c.388+17G>T
NM_199242.3(UNC13D):c.388+3G>A
NM_199242.3(UNC13D):c.388+8T>C
NM_199242.3(UNC13D):c.388+8T>G
NM_199242.3(UNC13D):c.389-13C>T rs1376263454
NM_199242.3(UNC13D):c.389-13del
NM_199242.3(UNC13D):c.389-16C>T
NM_199242.3(UNC13D):c.389-3C>G rs2064957212
NM_199242.3(UNC13D):c.389-55C>T
NM_199242.3(UNC13D):c.389-6C>T
NM_199242.3(UNC13D):c.389-9C>A rs946234751
NM_199242.3(UNC13D):c.389-9C>T
NM_199242.3(UNC13D):c.389G>A (p.Gly130Glu)
NM_199242.3(UNC13D):c.396C>T (p.Ser132=)
NM_199242.3(UNC13D):c.397G>A (p.Asp133Asn)
NM_199242.3(UNC13D):c.408_414del (p.Cys136fs) rs2064957038
NM_199242.3(UNC13D):c.411G>A (p.Leu137=)
NM_199242.3(UNC13D):c.414G>A (p.Leu138=)
NM_199242.3(UNC13D):c.417C>T (p.Gly139=)
NM_199242.3(UNC13D):c.42C>T (p.Phe14=)
NM_199242.3(UNC13D):c.430G>T (p.Val144Leu) rs987855651
NM_199242.3(UNC13D):c.432A>G (p.Val144=)
NM_199242.3(UNC13D):c.43T>G (p.Leu15Val) rs886053424
NM_199242.3(UNC13D):c.441del (p.Gly149fs)
NM_199242.3(UNC13D):c.443G>C (p.Gly148Ala) rs551855408
NM_199242.3(UNC13D):c.455G>T (p.Gly152Val) rs774159498
NM_199242.3(UNC13D):c.456G>C (p.Gly152=) rs1599414821
NM_199242.3(UNC13D):c.462G>A (p.Arg154=)
NM_199242.3(UNC13D):c.468G>C (p.Arg156=)
NM_199242.3(UNC13D):c.469C>T (p.Gln157Ter)
NM_199242.3(UNC13D):c.46C>G (p.Arg16Gly) rs370709761
NM_199242.3(UNC13D):c.48C>T (p.Arg16=)
NM_199242.3(UNC13D):c.491C>T (p.Thr164Ile)
NM_199242.3(UNC13D):c.492C>G (p.Thr164=)
NM_199242.3(UNC13D):c.495C>A (p.Ile165=)
NM_199242.3(UNC13D):c.498C>A (p.Pro166=)
NM_199242.3(UNC13D):c.498del (p.Glu167fs) rs1599414759
NM_199242.3(UNC13D):c.49C>T (p.Gln17Ter) rs2064970978
NM_199242.3(UNC13D):c.501G>A (p.Glu167=)
NM_199242.3(UNC13D):c.504G>A (p.Glu168=)
NM_199242.3(UNC13D):c.510C>A (p.Thr170=)
NM_199242.3(UNC13D):c.513C>T (p.His171=)
NM_199242.3(UNC13D):c.514C>A (p.Arg172Ser) rs560126604
NM_199242.3(UNC13D):c.515G>C (p.Arg172Pro) rs769659694
NM_199242.3(UNC13D):c.519G>T (p.Thr173=)
NM_199242.3(UNC13D):c.532del (p.Gln178fs)
NM_199242.3(UNC13D):c.537A>G (p.Thr179=) rs1333039141
NM_199242.3(UNC13D):c.540C>G (p.Leu180=)
NM_199242.3(UNC13D):c.544C>T (p.Pro182Ser) rs1567822165
NM_199242.3(UNC13D):c.546C>T (p.Pro182=)
NM_199242.3(UNC13D):c.54C>T (p.Ala18=)
NM_199242.3(UNC13D):c.553G>A (p.Asp185Asn)
NM_199242.3(UNC13D):c.560C>A (p.Thr187Asn)
NM_199242.3(UNC13D):c.561C>T (p.Thr187=)
NM_199242.3(UNC13D):c.567C>T (p.Ile189=)
NM_199242.3(UNC13D):c.568del (p.Leu190fs)
NM_199242.3(UNC13D):c.569+11G>C
NM_199242.3(UNC13D):c.569T>G (p.Leu190Arg)
NM_199242.3(UNC13D):c.570-10C>A rs2064944765
NM_199242.3(UNC13D):c.570-16C>G
NM_199242.3(UNC13D):c.570-17C>T
NM_199242.3(UNC13D):c.570-19C>A
NM_199242.3(UNC13D):c.570-19C>T
NM_199242.3(UNC13D):c.570-2A>G
NM_199242.3(UNC13D):c.570-2A>T rs770325118
NM_199242.3(UNC13D):c.570-4A>G
NM_199242.3(UNC13D):c.570-6A>T
NM_199242.3(UNC13D):c.577G>A (p.Glu193Lys)
NM_199242.3(UNC13D):c.578A>G (p.Glu193Gly) rs532317198
NM_199242.3(UNC13D):c.580G>A (p.Asp194Asn)
NM_199242.3(UNC13D):c.588C>T (p.Thr196=)
NM_199242.3(UNC13D):c.594G>C (p.Ala198=) rs755967157
NM_199242.3(UNC13D):c.614+11T>C
NM_199242.3(UNC13D):c.614+12G>A
NM_199242.3(UNC13D):c.614+14C>T
NM_199242.3(UNC13D):c.614+20C>T
NM_199242.3(UNC13D):c.614+9C>A
NM_199242.3(UNC13D):c.615-10G>A
NM_199242.3(UNC13D):c.615-10G>C rs200803997
NM_199242.3(UNC13D):c.615-12C>G
NM_199242.3(UNC13D):c.615-6T>G
NM_199242.3(UNC13D):c.615G>C (p.Trp205Cys)
NM_199242.3(UNC13D):c.621G>T (p.Leu207=) rs1199198868
NM_199242.3(UNC13D):c.622G>T (p.Asp208Tyr) rs2143894092
NM_199242.3(UNC13D):c.627del (p.Val210fs)
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.631G>A (p.Glu211Lys)
NM_199242.3(UNC13D):c.634_657del (p.Ser212_Glu219del) rs752263804
NM_199242.3(UNC13D):c.648G>A (p.Lys216=)
NM_199242.3(UNC13D):c.654G>A (p.Gly218=)
NM_199242.3(UNC13D):c.662C>T (p.Thr221Met)
NM_199242.3(UNC13D):c.663G>C (p.Thr221=)
NM_199242.3(UNC13D):c.672T>C (p.His224=)
NM_199242.3(UNC13D):c.681C>A (p.Arg227=)
NM_199242.3(UNC13D):c.683+12A>C rs2064942107
NM_199242.3(UNC13D):c.683+17T>C
NM_199242.3(UNC13D):c.683+1G>A
NM_199242.3(UNC13D):c.683+4C>G
NM_199242.3(UNC13D):c.683+4C>T rs374832914
NM_199242.3(UNC13D):c.683+5G>A
NM_199242.3(UNC13D):c.683+5G>T rs554536271
NM_199242.3(UNC13D):c.683+8_683+9insGTGTG rs751253097
NM_199242.3(UNC13D):c.683+9T>C
NM_199242.3(UNC13D):c.684-13C>T
NM_199242.3(UNC13D):c.684-14C>A
NM_199242.3(UNC13D):c.684-14C>G
NM_199242.3(UNC13D):c.684-19G>A rs1472770205
NM_199242.3(UNC13D):c.684-3C>T
NM_199242.3(UNC13D):c.684-4G>A
NM_199242.3(UNC13D):c.684-6A>T
NM_199242.3(UNC13D):c.684-9C>G
NM_199242.3(UNC13D):c.68G>A (p.Arg23His)
NM_199242.3(UNC13D):c.68G>T (p.Arg23Leu)
NM_199242.3(UNC13D):c.694G>C (p.Glu232Gln) rs2064940709
NM_199242.3(UNC13D):c.699C>T (p.Ala233=)
NM_199242.3(UNC13D):c.69C>A (p.Arg23=)
NM_199242.3(UNC13D):c.704A>G (p.Lys235Arg) rs548198637
NM_199242.3(UNC13D):c.705G>A (p.Lys235=)
NM_199242.3(UNC13D):c.708del (p.Asp236fs)
NM_199242.3(UNC13D):c.70C>G (p.Arg24Gly) rs749234163
NM_199242.3(UNC13D):c.720C>T (p.Asp240=)
NM_199242.3(UNC13D):c.726T>C (p.Phe242=)
NM_199242.3(UNC13D):c.732G>A (p.Gly244=)
NM_199242.3(UNC13D):c.732G>C (p.Gly244=)
NM_199242.3(UNC13D):c.736G>A (p.Val246Met)
NM_199242.3(UNC13D):c.744G>A (p.Leu248=)
NM_199242.3(UNC13D):c.745A>G (p.Arg249Gly)
NM_199242.3(UNC13D):c.746G>A (p.Arg249Lys)
NM_199242.3(UNC13D):c.74G>C (p.Arg25Thr) rs1013790378
NM_199242.3(UNC13D):c.751C>T (p.Gln251Ter) rs2143893153
NM_199242.3(UNC13D):c.753+12G>A rs2064940233
NM_199242.3(UNC13D):c.753+17A>G
NM_199242.3(UNC13D):c.753+1G>A
NM_199242.3(UNC13D):c.753+20G>A
NM_199242.3(UNC13D):c.753+7A>C
NM_199242.3(UNC13D):c.754-15A>T rs2143892706
NM_199242.3(UNC13D):c.755_756dup (p.Leu253fs)
NM_199242.3(UNC13D):c.756C>T (p.Asp252=)
NM_199242.3(UNC13D):c.75A>G (p.Arg25=)
NM_199242.3(UNC13D):c.761G>A (p.Arg254His)
NM_199242.3(UNC13D):c.761G>T (p.Arg254Leu) rs774176637
NM_199242.3(UNC13D):c.762del (p.Cys255fs) rs1381855537
NM_199242.3(UNC13D):c.766C>G (p.Arg256Gly) rs121434352
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352
NM_199242.3(UNC13D):c.775C>G (p.Gln259Glu) rs2064938758
NM_199242.3(UNC13D):c.777G>A (p.Gln259=)
NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter) rs943094444
NM_199242.3(UNC13D):c.780G>A (p.Trp260Ter)
NM_199242.3(UNC13D):c.780G>C (p.Trp260Cys) rs769371398
NM_199242.3(UNC13D):c.789G>A (p.Leu263=)
NM_199242.3(UNC13D):c.797G>A (p.Arg266His) rs538734085
NM_199242.3(UNC13D):c.79dup (p.Arg27fs) rs1244919509
NM_199242.3(UNC13D):c.810C>T (p.Tyr270=)
NM_199242.3(UNC13D):c.814G>A (p.Asp272Asn)
NM_199242.3(UNC13D):c.82_83insCTCT (p.Asp28fs) rs2143904721
NM_199242.3(UNC13D):c.831C>T (p.His277=)
NM_199242.3(UNC13D):c.858+10G>A rs775728355
NM_199242.3(UNC13D):c.858+13C>G
NM_199242.3(UNC13D):c.858+14T>C
NM_199242.3(UNC13D):c.858+18C>T
NM_199242.3(UNC13D):c.858+19C>T
NM_199242.3(UNC13D):c.858+7C>T
NM_199242.3(UNC13D):c.859-1G>C rs1388957809
NM_199242.3(UNC13D):c.859-3C>A rs563600513
NM_199242.3(UNC13D):c.859-7A>T rs1599412377
NM_199242.3(UNC13D):c.861A>G (p.Arg287=)
NM_199242.3(UNC13D):c.865_877dup (p.Arg293fs) rs2064936948
NM_199242.3(UNC13D):c.870G>A (p.Ser290=)
NM_199242.3(UNC13D):c.873C>T (p.Ala291=) rs2064936969
NM_199242.3(UNC13D):c.877C>T (p.Arg293Cys)
NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter) rs2143892028
NM_199242.3(UNC13D):c.888G>A (p.Pro296=) rs7223416
NM_199242.3(UNC13D):c.888G>C (p.Pro296=) rs7223416
NM_199242.3(UNC13D):c.888G>T (p.Pro296=)
NM_199242.3(UNC13D):c.895A>C (p.Thr299Pro) rs2143891988
NM_199242.3(UNC13D):c.897C>A (p.Thr299=)
NM_199242.3(UNC13D):c.897C>G (p.Thr299=)
NM_199242.3(UNC13D):c.897C>T (p.Thr299=) rs771228394
NM_199242.3(UNC13D):c.900G>A (p.Val300=)
NM_199242.3(UNC13D):c.902A>G (p.His301Arg) rs2143891961
NM_199242.3(UNC13D):c.903C>T (p.His301=) rs544643767
NM_199242.3(UNC13D):c.906C>G (p.Leu302=)
NM_199242.3(UNC13D):c.907C>T (p.His303Tyr) rs2064936586
NM_199242.3(UNC13D):c.909C>T (p.His303=)
NM_199242.3(UNC13D):c.912C>T (p.Leu304=)
NM_199242.3(UNC13D):c.91G>A (p.Asp31Asn)
NM_199242.3(UNC13D):c.924del (p.Val309fs)
NM_199242.3(UNC13D):c.934G>A (p.Glu312Lys)
NM_199242.3(UNC13D):c.942C>G (p.Thr314=)
NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)
NM_199242.3(UNC13D):c.948C>T (p.His316=)
NM_199242.3(UNC13D):c.949G>A (p.Glu317Lys) rs777818719
NM_199242.3(UNC13D):c.951+18C>G
NM_199242.3(UNC13D):c.951+9C>T
NM_199242.3(UNC13D):c.952-10C>T
NM_199242.3(UNC13D):c.952-14C>T
NM_199242.3(UNC13D):c.952-15A>G
NM_199242.3(UNC13D):c.952-16C>T
NM_199242.3(UNC13D):c.952-18T>G
NM_199242.3(UNC13D):c.952-19C>T
NM_199242.3(UNC13D):c.952-2A>G
NM_199242.3(UNC13D):c.952-4T>C rs2143891583
NM_199242.3(UNC13D):c.952-5C>A
NM_199242.3(UNC13D):c.952-9T>A
NM_199242.3(UNC13D):c.955G>A (p.Gly319Arg) rs2064935570
NM_199242.3(UNC13D):c.963C>T (p.Thr321=)
NM_199242.3(UNC13D):c.965_968delinsTTCATGCATACACCACATGAAACATCCTATCATCTGTAGGCTCATTCATTTCTCTAACAGCAGTAATA (p.Ser322_Trp323delinsPheHisAlaTyrThrThrTer)
NM_199242.3(UNC13D):c.972C>G (p.Asp324Glu) rs368990813
NM_199242.3(UNC13D):c.975G>A (p.Gly325=)
NM_199242.3(UNC13D):c.981G>C (p.Leu327=)
NM_199242.3(UNC13D):c.984T>A (p.Ser328Arg) rs1352553189
NM_199242.3(UNC13D):c.98C>A (p.Pro33Gln)
NM_199242.3(UNC13D):c.98C>T (p.Pro33Leu) rs140437526
NM_199242.3(UNC13D):c.99G>T (p.Pro33=)
NM_199242.3(UNC13D):c.9A>G (p.Thr3=) rs376902386
Single allele

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