ClinVar Miner

List of variants reported as likely benign for Familial hemophagocytic lymphohistiocytosis 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 766
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HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
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.2955-14G>C rs138462345 0.00196
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_199242.3(UNC13D):c.2828A>G (p.Asn943Ser) rs147748627 0.00158
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
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.1389+14G>A rs113956688 0.00056
NM_199242.3(UNC13D):c.2368-5C>T rs180768962 0.00045
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.444G>A (p.Gly148=) rs373551579 0.00034
NM_199242.3(UNC13D):c.2830+7G>A rs201023196 0.00029
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.1818G>A (p.Ala606=) rs200621516 0.00022
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg) rs142335129 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.2709+6G>T rs199529082 0.00014
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.1038C>T (p.Asp346=) rs143231110 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.1626G>A (p.Thr542=) rs371924071 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.2553+12G>A rs560520169 0.00009
NM_199242.3(UNC13D):c.999C>T (p.Thr333=) rs138268544 0.00009
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.1014C>T (p.His338=) rs375097777 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.1773G>T (p.Pro591=) rs367988204 0.00006
NM_199242.3(UNC13D):c.2358G>A (p.Leu786=) rs532486218 0.00006
NM_199242.3(UNC13D):c.2448-7G>A rs537787945 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.3075G>C (p.Val1025=) rs750974136 0.00006
NM_199242.3(UNC13D):c.3152-17A>G rs756249085 0.00006
NM_199242.3(UNC13D):c.684-5C>T rs374984588 0.00006
NM_199242.3(UNC13D):c.859-4G>A rs373239557 0.00006
NM_199242.3(UNC13D):c.1134C>T (p.Ile378=) rs751624266 0.00005
NM_199242.3(UNC13D):c.117+9G>C rs1009838525 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.118-9G>C rs527842266 0.00004
NM_199242.3(UNC13D):c.154-13C>A rs908049021 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.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.2676C>A (p.Ile892=) rs2064865151 0.00004
NM_199242.3(UNC13D):c.2710-12T>C rs374302602 0.00004
NM_199242.3(UNC13D):c.2954+17C>T rs538544253 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.519G>A (p.Thr173=) rs370278536 0.00004
NM_199242.3(UNC13D):c.663G>A (p.Thr221=) rs771266801 0.00004
NM_199242.3(UNC13D):c.754-9G>A rs765308578 0.00004
NM_199242.3(UNC13D):c.1447-8C>G rs760322200 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.1830C>T (p.Arg610=) rs572194095 0.00003
NM_199242.3(UNC13D):c.2448-8C>T rs764073748 0.00003
NM_199242.3(UNC13D):c.2710-17C>T rs368196410 0.00003
NM_199242.3(UNC13D):c.3051G>A (p.Glu1017=) rs368211297 0.00003
NM_199242.3(UNC13D):c.3264G>A (p.Pro1088=) rs755126817 0.00003
NM_199242.3(UNC13D):c.579G>A (p.Glu193=) rs201806234 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.1032A>G (p.Leu344=) rs779488594 0.00002
NM_199242.3(UNC13D):c.1056-8C>T rs766550767 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.1782C>G (p.Pro594=) rs772047605 0.00002
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=) rs753021453 0.00002
NM_199242.3(UNC13D):c.2193G>C (p.Val731=) rs1001766122 0.00002
NM_199242.3(UNC13D):c.261+9G>A rs754902598 0.00002
NM_199242.3(UNC13D):c.2709+16C>T rs747021679 0.00002
NM_199242.3(UNC13D):c.2799C>T (p.Ser933=) rs752372722 0.00002
NM_199242.3(UNC13D):c.2817C>T (p.Pro939=) rs565976477 0.00002
NM_199242.3(UNC13D):c.2954+13C>T rs772473891 0.00002
NM_199242.3(UNC13D):c.2954+14G>A rs1194495416 0.00002
NM_199242.3(UNC13D):c.3006C>T (p.Thr1002=) rs773217124 0.00002
NM_199242.3(UNC13D):c.555C>T (p.Asp185=) rs756118878 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.859-13G>C rs989852597 0.00002
NM_199242.3(UNC13D):c.933C>T (p.His311=) rs149650660 0.00002
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.154-12C>T rs201566360 0.00001
NM_199242.3(UNC13D):c.1544+19C>T rs752742945 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.1597-6T>A rs1456749981 0.00001
NM_199242.3(UNC13D):c.15C>T (p.Leu5=) rs751997671 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.1719C>T (p.Ser573=) rs749404402 0.00001
NM_199242.3(UNC13D):c.1728-12G>A rs546379598 0.00001
NM_199242.3(UNC13D):c.1848+8C>T rs1450744252 0.00001
NM_199242.3(UNC13D):c.1992+19G>A rs1267327666 0.00001
NM_199242.3(UNC13D):c.2092-9C>T rs1471072700 0.00001
NM_199242.3(UNC13D):c.2148C>T (p.Pro716=) rs1431407116 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.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.2421C>T (p.Thr807=) rs1333852596 0.00001
NM_199242.3(UNC13D):c.2448-14C>T rs757075933 0.00001
NM_199242.3(UNC13D):c.2556C>T (p.Asn852=) rs564380873 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.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.2637G>A (p.Arg879=) rs1372708758 0.00001
NM_199242.3(UNC13D):c.2679G>C (p.Arg893=) rs1011534388 0.00001
NM_199242.3(UNC13D):c.2754C>G (p.Ala918=) rs1217118688 0.00001
NM_199242.3(UNC13D):c.2830+14G>A rs750433063 0.00001
NM_199242.3(UNC13D):c.2831-19C>A rs369860531 0.00001
NM_199242.3(UNC13D):c.2862G>A (p.Leu954=) rs777951171 0.00001
NM_199242.3(UNC13D):c.2954+20C>T rs1339152500 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.3084G>C (p.Leu1028=) rs368577676 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_199242.3(UNC13D):c.3152-5C>T rs564198879 0.00001
NM_199242.3(UNC13D):c.322-8C>T rs769142756 0.00001
NM_199242.3(UNC13D):c.498C>T (p.Pro166=) rs201410236 0.00001
NM_199242.3(UNC13D):c.569+11G>A rs746068656 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.615-4C>T rs368252536 0.00001
NM_199242.3(UNC13D):c.627T>C (p.Thr209=) rs764862990 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.754-17G>A rs780473660 0.00001
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys) rs558726483 0.00001
NM_199242.3(UNC13D):c.801T>G (p.Thr267=) rs780425175 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.978G>A (p.Ser326=) rs533811160 0.00001
NM_199242.3(UNC13D):c.9A>T (p.Thr3=) rs376902386 0.00001
NM_199242.3(UNC13D):c.1002C>T (p.Val334=)
NM_199242.3(UNC13D):c.1008T>C (p.Phe336=) rs746042735
NM_199242.3(UNC13D):c.1017C>G (p.Ala339=)
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.1055+13C>G
NM_199242.3(UNC13D):c.1055+17G>T rs1156884456
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.1077C>T (p.Arg359=)
NM_199242.3(UNC13D):c.1092G>A (p.Leu364=)
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.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+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+9G>A
NM_199242.3(UNC13D):c.1174-15del
NM_199242.3(UNC13D):c.1174-9G>A
NM_199242.3(UNC13D):c.1179G>A (p.Glu393=)
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.118-4G>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.1194A>C (p.Ser398=)
NM_199242.3(UNC13D):c.1194A>G (p.Ser398=)
NM_199242.3(UNC13D):c.1203C>A (p.Ser401=)
NM_199242.3(UNC13D):c.1236G>A (p.Arg412=)
NM_199242.3(UNC13D):c.1239C>T (p.Phe413=)
NM_199242.3(UNC13D):c.1242C>A (p.Arg414=)
NM_199242.3(UNC13D):c.1242C>T (p.Arg414=)
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.1266G>A (p.Ser422=) rs749317896
NM_199242.3(UNC13D):c.1275A>C (p.Pro425=)
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.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.1299-4G>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.1332T>C (p.Phe444=)
NM_199242.3(UNC13D):c.1338A>G (p.Glu446=)
NM_199242.3(UNC13D):c.1353C>T (p.Thr451=)
NM_199242.3(UNC13D):c.1380G>A (p.Glu460=)
NM_199242.3(UNC13D):c.1383C>T (p.Ala461=)
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.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.1398C>T (p.Thr466=)
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.1447-4G>A
NM_199242.3(UNC13D):c.1447-4G>T
NM_199242.3(UNC13D):c.1447-6C>T
NM_199242.3(UNC13D):c.1449C>A (p.Gly483=)
NM_199242.3(UNC13D):c.1452C>A (p.Ile484=)
NM_199242.3(UNC13D):c.1455G>A (p.Pro485=)
NM_199242.3(UNC13D):c.1458G>A (p.Glu486=)
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.150G>A (p.Glu50=)
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+20G>C
NM_199242.3(UNC13D):c.153+8_153+11del
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.154-9G>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>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.1545-4C>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.1563C>T (p.Leu521=)
NM_199242.3(UNC13D):c.1566C>T (p.Phe522=)
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+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.1629T>C (p.Val543=) rs2143879473
NM_199242.3(UNC13D):c.1644G>A (p.Val548=)
NM_199242.3(UNC13D):c.1668G>A (p.Leu556=)
NM_199242.3(UNC13D):c.168C>T (p.Tyr56=)
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.1728-15C>A
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.1758C>T (p.His586=) rs759891490
NM_199242.3(UNC13D):c.1773G>A (p.Pro591=) rs367988204
NM_199242.3(UNC13D):c.1779C>T (p.Ile593=)
NM_199242.3(UNC13D):c.1782C>A (p.Pro594=)
NM_199242.3(UNC13D):c.1791G>A (p.Leu597=)
NM_199242.3(UNC13D):c.1800G>A (p.Thr600=)
NM_199242.3(UNC13D):c.1806C>T (p.Asn602=)
NM_199242.3(UNC13D):c.180C>G (p.Leu60=)
NM_199242.3(UNC13D):c.1818G>T (p.Ala606=)
NM_199242.3(UNC13D):c.1821G>C (p.Arg607=)
NM_199242.3(UNC13D):c.1830C>A (p.Arg610=)
NM_199242.3(UNC13D):c.1833T>A (p.Ala611=)
NM_199242.3(UNC13D):c.183C>T (p.Tyr61=)
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+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.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.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.1890G>C (p.Ala630=) rs753021453
NM_199242.3(UNC13D):c.1902C>T (p.Ser634=)
NM_199242.3(UNC13D):c.1959G>A (p.Glu653=)
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+8A>G
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.2046C>A (p.Arg682=)
NM_199242.3(UNC13D):c.2046C>T (p.Arg682=) rs139837456
NM_199242.3(UNC13D):c.2049G>A (p.Glu683=)
NM_199242.3(UNC13D):c.2085C>T (p.Ala695=)
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.2106G>A (p.Val702=)
NM_199242.3(UNC13D):c.2118G>A (p.Glu706=)
NM_199242.3(UNC13D):c.2125C>A (p.Arg709=)
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.2166G>A (p.Glu722=)
NM_199242.3(UNC13D):c.2184A>G (p.Val728=)
NM_199242.3(UNC13D):c.2190C>T (p.Ala730=)
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.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.2271C>T (p.Arg757=)
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.2295G>A (p.Glu765=)
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.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.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.237T>C (p.Ser79=)
NM_199242.3(UNC13D):c.2380C>T (p.Leu794=) rs1166719662
NM_199242.3(UNC13D):c.2392C>T (p.Leu798=)
NM_199242.3(UNC13D):c.2403G>A (p.Glu801=)
NM_199242.3(UNC13D):c.240G>A (p.Glu80=)
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.2447+14C>T
NM_199242.3(UNC13D):c.2447+19C>A
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.2451C>T (p.Leu817=)
NM_199242.3(UNC13D):c.2457C>G (p.Thr819=)
NM_199242.3(UNC13D):c.2457C>T (p.Thr819=)
NM_199242.3(UNC13D):c.2472C>T (p.His824=)
NM_199242.3(UNC13D):c.2496G>T (p.Ala832=)
NM_199242.3(UNC13D):c.2502C>T (p.Ala834=)
NM_199242.3(UNC13D):c.2517A>T (p.Ser839=)
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.2554-16C>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.2577T>C (p.Ala859=)
NM_199242.3(UNC13D):c.2589C>G (p.Gly863=) rs181621682
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.262-9C>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.2626-12A>C
NM_199242.3(UNC13D):c.2649G>A (p.Leu883=)
NM_199242.3(UNC13D):c.2649G>C (p.Leu883=)
NM_199242.3(UNC13D):c.2655G>A (p.Ala885=)
NM_199242.3(UNC13D):c.2655G>T (p.Ala885=)
NM_199242.3(UNC13D):c.2658C>T (p.Ala886=)
NM_199242.3(UNC13D):c.2688C>T (p.Phe896=)
NM_199242.3(UNC13D):c.2700C>A (p.Ile900=)
NM_199242.3(UNC13D):c.2703G>A (p.Gln901=)
NM_199242.3(UNC13D):c.2709+11T>C
NM_199242.3(UNC13D):c.2709+12C>A
NM_199242.3(UNC13D):c.2709+16C>G rs747021679
NM_199242.3(UNC13D):c.2709+17G>A
NM_199242.3(UNC13D):c.2709+17G>T
NM_199242.3(UNC13D):c.2709+19A>C
NM_199242.3(UNC13D):c.2709+20C>T
NM_199242.3(UNC13D):c.2709+7C>A
NM_199242.3(UNC13D):c.270C>T (p.His90=)
NM_199242.3(UNC13D):c.2710-14G>A
NM_199242.3(UNC13D):c.2710-18C>A rs1555600186
NM_199242.3(UNC13D):c.2710-19C>A
NM_199242.3(UNC13D):c.2710-19C>G
NM_199242.3(UNC13D):c.2710-36TGACCCTGC[3]
NM_199242.3(UNC13D):c.2710-5C>G
NM_199242.3(UNC13D):c.2710-9C>A
NM_199242.3(UNC13D):c.2715A>G (p.Glu905=)
NM_199242.3(UNC13D):c.2718C>T (p.Thr906=)
NM_199242.3(UNC13D):c.2730G>A (p.Glu910=)
NM_199242.3(UNC13D):c.2733G>A (p.Leu911=)
NM_199242.3(UNC13D):c.2742G>A (p.Val914=) rs777262533
NM_199242.3(UNC13D):c.2742G>T (p.Val914=)
NM_199242.3(UNC13D):c.2748C>T (p.Val916=) rs2143865000
NM_199242.3(UNC13D):c.2763C>T (p.Arg921=)
NM_199242.3(UNC13D):c.2769T>C (p.Ser923=)
NM_199242.3(UNC13D):c.2787G>A (p.Val929=)
NM_199242.3(UNC13D):c.279C>G (p.Pro93=) rs3744007
NM_199242.3(UNC13D):c.2802C>T (p.Ala934=)
NM_199242.3(UNC13D):c.2811G>A (p.Leu937=)
NM_199242.3(UNC13D):c.2811G>C (p.Leu937=)
NM_199242.3(UNC13D):c.2814G>T (p.Leu938=)
NM_199242.3(UNC13D):c.2818C>T (p.Leu940=)
NM_199242.3(UNC13D):c.2830+11G>A
NM_199242.3(UNC13D):c.2830+11G>C
NM_199242.3(UNC13D):c.2830+18T>C rs1372251630
NM_199242.3(UNC13D):c.2830+18T>G
NM_199242.3(UNC13D):c.2831-11C>T
NM_199242.3(UNC13D):c.2831-14C>T
NM_199242.3(UNC13D):c.2831-15C>T rs2143864252
NM_199242.3(UNC13D):c.2831-17C>T
NM_199242.3(UNC13D):c.2831-19C>T rs369860531
NM_199242.3(UNC13D):c.2831-4C>T
NM_199242.3(UNC13D):c.2832C>T (p.Gly944=)
NM_199242.3(UNC13D):c.2838C>T (p.Ser946=)
NM_199242.3(UNC13D):c.2844C>G (p.Pro948=)
NM_199242.3(UNC13D):c.2847T>C (p.Phe949=)
NM_199242.3(UNC13D):c.2854C>T (p.Leu952=)
NM_199242.3(UNC13D):c.2859C>T (p.Thr953=)
NM_199242.3(UNC13D):c.2869A>C (p.Arg957=)
NM_199242.3(UNC13D):c.2871G>A (p.Arg957=)
NM_199242.3(UNC13D):c.2892C>T (p.Ala964=)
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_199242.3(UNC13D):c.2910G>A (p.Lys970=)
NM_199242.3(UNC13D):c.291G>A (p.Gln97=)
NM_199242.3(UNC13D):c.2922C>T (p.Asp974=) rs2143863995
NM_199242.3(UNC13D):c.2931A>G (p.Pro977=)
NM_199242.3(UNC13D):c.2932T>C (p.Leu978=)
NM_199242.3(UNC13D):c.2954+7G>T rs1182241695
NM_199242.3(UNC13D):c.2954+8G>C rs1483854859
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.2955-6C>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.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.3003C>A (p.Leu1001=) rs1282273933
NM_199242.3(UNC13D):c.3009G>A (p.Val1003=)
NM_199242.3(UNC13D):c.3010C>T (p.Leu1004=)
NM_199242.3(UNC13D):c.3012G>A (p.Leu1004=)
NM_199242.3(UNC13D):c.3024G>A (p.Thr1008=) rs562357679
NM_199242.3(UNC13D):c.3024G>C (p.Thr1008=)
NM_199242.3(UNC13D):c.3033C>A (p.Ala1011=)
NM_199242.3(UNC13D):c.3039C>T (p.Asp1013=) rs769897808
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.3078C>G (p.Pro1026=) rs372034111
NM_199242.3(UNC13D):c.30G>A (p.Gln10=)
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.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.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.3152-8C>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.3183G>C (p.Arg1061=) rs2143858841
NM_199242.3(UNC13D):c.3195A>G (p.Arg1065=)
NM_199242.3(UNC13D):c.3201C>G (p.Ala1067=)
NM_199242.3(UNC13D):c.3201C>T (p.Ala1067=)
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+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.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.3249G>A (p.Gln1083=)
NM_199242.3(UNC13D):c.3270G>T (p.Pro1090=)
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+8T>G
NM_199242.3(UNC13D):c.389-13C>T rs1376263454
NM_199242.3(UNC13D):c.389-16C>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.396C>T (p.Ser132=)
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.432A>G (p.Val144=)
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.48C>T (p.Arg16=)
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.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.519G>T (p.Thr173=)
NM_199242.3(UNC13D):c.537A>G (p.Thr179=) rs1333039141
NM_199242.3(UNC13D):c.540C>G (p.Leu180=)
NM_199242.3(UNC13D):c.546C>T (p.Pro182=)
NM_199242.3(UNC13D):c.54C>T (p.Ala18=)
NM_199242.3(UNC13D):c.561C>T (p.Thr187=)
NM_199242.3(UNC13D):c.567C>T (p.Ile189=)
NM_199242.3(UNC13D):c.569+11G>C
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.570-4A>G
NM_199242.3(UNC13D):c.570-6A>T
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.621G>T (p.Leu207=) rs1199198868
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_199242.3(UNC13D):c.648G>A (p.Lys216=)
NM_199242.3(UNC13D):c.654G>A (p.Gly218=)
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+17T>C
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.684-4G>A
NM_199242.3(UNC13D):c.684-6A>T
NM_199242.3(UNC13D):c.684-9C>G
NM_199242.3(UNC13D):c.699C>T (p.Ala233=)
NM_199242.3(UNC13D):c.69C>A (p.Arg23=)
NM_199242.3(UNC13D):c.705G>A (p.Lys235=)
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.744G>A (p.Leu248=)
NM_199242.3(UNC13D):c.753+12G>A rs2064940233
NM_199242.3(UNC13D):c.753+17A>G
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.756C>T (p.Asp252=)
NM_199242.3(UNC13D):c.75A>G (p.Arg25=)
NM_199242.3(UNC13D):c.777G>A (p.Gln259=)
NM_199242.3(UNC13D):c.789G>A (p.Leu263=)
NM_199242.3(UNC13D):c.810C>T (p.Tyr270=)
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.859-7A>T rs1599412377
NM_199242.3(UNC13D):c.861A>G (p.Arg287=)
NM_199242.3(UNC13D):c.870G>A (p.Ser290=)
NM_199242.3(UNC13D):c.873C>T (p.Ala291=) rs2064936969
NM_199242.3(UNC13D):c.888G>A (p.Pro296=) rs7223416
NM_199242.3(UNC13D):c.888G>T (p.Pro296=)
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.903C>T (p.His301=) rs544643767
NM_199242.3(UNC13D):c.906C>G (p.Leu302=)
NM_199242.3(UNC13D):c.909C>T (p.His303=)
NM_199242.3(UNC13D):c.912C>T (p.Leu304=)
NM_199242.3(UNC13D):c.942C>G (p.Thr314=)
NM_199242.3(UNC13D):c.948C>T (p.His316=)
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.952-4T>C rs2143891583
NM_199242.3(UNC13D):c.952-5C>A
NM_199242.3(UNC13D):c.952-9T>A
NM_199242.3(UNC13D):c.963C>T (p.Thr321=)
NM_199242.3(UNC13D):c.975G>A (p.Gly325=)
NM_199242.3(UNC13D):c.981G>C (p.Leu327=)
NM_199242.3(UNC13D):c.99G>T (p.Pro33=)
NM_199242.3(UNC13D):c.9A>G (p.Thr3=) rs376902386

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