| c.11C>A |
p.(Pro4His) |
0 |
0 |
| c.26C>A |
p.(Ala9Glu) |
0 |
0 |
| c.61C>T |
p.(Pro21Ser) |
0 |
0 |
| c.109G>T |
p.(Val37Phe) |
0 |
0 |
| c.113G>C |
p.(Trp38Ser) |
0 |
0 |
| c.118C>T |
p.(Pro40Ser) |
0 |
0 |
| c.130C>G |
p.(Leu44Val) |
0 |
0 |
| c.179G>A |
p.(Arg60Gln) |
0 |
0 |
| c.182G>A |
p.(Gly61Asp) |
0 |
0 |
| c.184T>C |
p.(Tyr62His) |
0 |
0 |
| c.191G>A |
p.(Arg64Gln) |
0 |
0 |
| c.216G>T |
p.(Lys72Asn) |
0 |
0 |
| c.232G>A |
p.(Ala78Thr) |
0 |
0 |
| c.268G>A |
p.(Ala90Thr) |
0 |
0 |
| c.373G>A |
p.(Glu125Lys) |
0 |
0 |
| c.386G>A |
p.(Gly129Glu) |
0 |
0 |
| c.419G>T |
p.(Trp140Leu) |
0 |
0 |
| c.428G>T |
p.(Cys143Phe) |
0 |
0 |
| c.461A>C |
p.(Gln154Pro) |
0 |
0 |
| c.487G>A |
p.(Asp163Asn) |
0 |
0 |
| c.496C>T |
p.(Arg166Cys) |
0 |
0 |
| c.560C>T |
p.(Ala187Val) |
0 |
0 |
| c.619G>A |
p.(Gly207Arg) |
0 |
0 |
| c.652T>C |
p.(Trp218Arg) |
0 |
0 |
| c.654G>T |
p.(Trp218Cys) |
0 |
0 |
| c.676G>A |
p.(Gly226Arg) |
0 |
0 |
| c.742C>T |
p.(Leu248Phe) |
0 |
0 |
| c.754C>T |
p.(Leu252Phe) |
0 |
0 |
| c.766T>C |
p.(Trp256Arg) |
0 |
0 |
| c.787G>T |
p.(Ala263Ser) |
0 |
0 |
| c.790C>T |
p.(Arg264Trp) |
0 |
0 |
| c.793A>G |
p.(Arg265Gly) |
0 |
0 |
| c.890G>A |
p.(Arg297His) |
0 |
0 |
| c.940G>A |
p.(Gly314Arg) |
0 |
0 |
| c.951C>G |
p.(Ser317Arg) |
0 |
0 |
| c.951C>A |
p.(Ser317Arg) |
0 |
0 |
| c.1060G>A |
p.(Val354Met) |
0 |
0 |
| c.1064T>G |
p.(Leu355Arg) |
0 |
0 |
| c.1091C>G |
p.(Thr364Arg) |
0 |
0 |
| c.1091C>T |
p.(Thr364Met) |
0 |
0 |
| c.1094T>C |
p.(Leu365Pro) |
0 |
0 |
| c.1108A>G |
p.(Asn370Asp) |
0 |
0 |
| c.1112T>C |
p.(Met371Thr) |
0 |
0 |
| c.1133A>C |
p.(Gln378Pro) |
0 |
0 |
| c.1144C>T |
p.(Arg382Trp) |
0 |
0 |
| c.1150G>C |
p.(Ala384Pro) |
0 |
0 |
| c.1171A>G |
p.(Arg391Gly) |
0 |
0 |
| c.1176G>C |
p.(Lys392Asn) |
0 |
0 |
| c.1192A>G |
p.(Ser398Gly) |
0 |
0 |
| c.1194C>G |
p.(Ser398Arg) |
0 |
0 |
| c.1199C>T |
p.(Ser400Phe) |
0 |
0 |
| c.1208C>A |
p.(Ala403Asp) |
0 |
0 |
| c.1220G>T |
p.(Gly407Val) |
0 |
0 |
| c.1233T>G |
p.(Asn411Lys) |
0 |
0 |
| c.1244T>C |
p.(Val415Ala) |
0 |
0 |
| c.1256G>A |
p.(Arg419Gln) |
0 |
0 |
| c.1258C>G |
p.(Leu420Val) |
0 |
0 |
| c.1264G>A |
p.(Glu422Lys) |
0 |
0 |
| c.1284C>G |
p.(Asn428Lys) |
0 |
0 |
| c.1312G>A |
p.(Val438Met) |
0 |
0 |
| c.1318T>G |
p.(Cys440Gly) |
0 |
0 |
| c.1355C>A |
p.(Ala452Asp) |
0 |
0 |
| c.1363G>C |
p.(Ala455Pro) |
0 |
0 |
| c.1388T>A |
p.(Leu463His) |
0 |
0 |
| c.1396A>T |
p.(Asn466Tyr) |
0 |
0 |
| c.1424A>T |
p.(His475Leu) |
0 |
0 |
| c.1460G>A |
p.(Arg487Gln) |
0 |
0 |
| c.1465C>T |
p.(Arg489Trp) |
0 |
0 |
| c.1484T>A |
p.(Leu495His) |
0 |
0 |
| c.1491C>A |
p.(Asn497Lys) |
0 |
0 |
| c.1498A>C |
p.(Thr500Pro) |
0 |
0 |
| c.1505A>T |
p.(Lys502Met) |
0 |
0 |
| c.1526C>G |
p.(Ala509Gly) |
0 |
0 |
| c.1540G>A |
p.(Val514Ile) |
0 |
0 |
| c.1553G>A |
p.(Arg518Gln) |
0 |
0 |
| c.1563G>C |
p.(Glu521Asp) |
0 |
0 |
| c.1565T>C |
p.(Leu522Pro) |
0 |
0 |
| c.1567G>A |
p.(Gly523Ser) |
0 |
0 |
| c.1586G>A |
p.(Gly529Asp) |
0 |
0 |
| c.1589T>C |
p.(Leu530Pro) |
0 |
0 |
| c.1603T>C |
p.(Ser535Pro) |
0 |
0 |
| c.1639G>A |
p.(Ala547Thr) |
0 |
0 |
| c.1652T>C |
p.(Phe551Ser) |
0 |
0 |
| c.1685T>C |
p.(Met562Thr) |
0 |
0 |
| c.1703T>C |
p.(Phe568Ser) |
0 |
0 |
| c.1760C>G |
p.(Ser587Cys) |
0 |
0 |
| c.1781C>T |
p.(Ala594Val) |
0 |
0 |
| c.1783C>T |
p.(Arg595Trp) |
0 |
0 |
| c.1798C>T |
p.(Arg600Cys) |
0 |
0 |
| c.1799G>C |
p.(Arg600Pro) |
0 |
0 |
| c.1799G>T |
p.(Arg600Leu) |
0 |
0 |
| c.1799G>A |
p.(Arg600His) |
0 |
0 |
| c.1814T>C |
p.(Leu605Pro) |
0 |
0 |
| c.1841T>C |
p.(Val614Ala) |
0 |
0 |
| c.1896C>A |
p.(His632Gln) |
0 |
0 |
| c.1898G>T |
p.(Ser633Ile) |
0 |
0 |
| c.1900G>A |
p.(Ala634Thr) |
0 |
0 |
| c.1901C>T |
p.(Ala634Val) |
0 |
0 |
| c.1958T>A |
p.(Val653Glu) |
0 |
0 |
| c.1964A>G |
p.(Gln655Arg) |
0 |
0 |
| c.1987G>T |
p.(Gly663Cys) |
0 |
0 |
| c.1987G>A |
p.(Gly663Ser) |
0 |
0 |
| c.1990C>T |
p.(Pro664Ser) |
0 |
0 |
| c.1996G>T |
p.(Gly666Trp) |
0 |
0 |
| c.1996G>M |
p.(Gly666Arg) |
0 |
0 |
| c.2018T>C |
p.(Leu673Pro) |
0 |
0 |
| c.2030T>C |
p.(Leu677Pro) |
0 |
0 |
| c.2059G>A |
p.(Val687Met) |
0 |
0 |
| c.2093A>C |
p.(Gln698Pro) |
0 |
0 |
| c.2097G>T |
p.(Glu699Asp) |
0 |
0 |
| c.2125G>A |
p.(Glu709Lys) |
0 |
0 |
| c.2126A>G |
p.(Glu709Gly) |
0 |
0 |
| c.2134T>C |
p.(Cys712Arg) |
0 |
0 |
| c.2153A>G |
p.(Asp718Gly) |
0 |
0 |
| c.2171G>A |
p.(Arg724Lys) |
0 |
0 |
| c.2177T>C |
p.(Leu726Pro) |
0 |
0 |
| c.2224A>G |
p.(Ile742Val) |
0 |
0 |
| c.2230A>C |
p.(Thr744Pro) |
0 |
0 |
| c.2248G>A |
p.(Gly750Ser) |
0 |
0 |
| c.2252T>A |
p.(Met751Lys) |
0 |
0 |
| c.2258T>C |
p.(Leu753Pro) |
0 |
0 |
| c.2263G>A |
p.(Gly755Arg) |
0 |
0 |
| c.2264G>A |
p.(Gly755Glu) |
0 |
0 |
| c.2266G>A |
p.(Gly756Ser) |
0 |
0 |
| c.2278C>T |
p.(Arg760Trp) |
0 |
0 |
| c.2279G>A |
p.(Arg760Gln) |
0 |
0 |
| c.2293C>G |
p.(Arg765Gly) |
0 |
0 |
| c.2293C>T |
p.(Arg765Trp) |
0 |
0 |
| c.2294G>A |
p.(Arg765Gln) |
0 |
0 |
| c.2297C>A |
p.(Ala766Asp) |
0 |
0 |
| c.2306G>A |
p.(Arg769Lys) |
0 |
0 |
| c.2329G>A |
p.(Asp777Asn) |
0 |
0 |
| c.2334C>A |
p.(Asp778Glu) |
0 |
0 |
| c.2342C>T |
p.(Ala781Val) |
0 |
0 |
| c.2359G>A |
p.(Val787Ile) |
0 |
0 |
| c.2359G>T |
p.(Val787Phe) |
0 |
0 |
| c.2379C>G |
p.(Asn793Lys) |
0 |
0 |
| c.2383G>T |
p.(Val795Phe) |
0 |
0 |
| c.2387T>C |
p.(Ile796Thr) |
0 |
0 |
| c.2390G>A |
p.(Gly797Glu) |
0 |
0 |
| c.2393C>T |
p.(Pro798Leu) |
0 |
0 |
| c.2419C>G |
p.(Arg807Gly) |
0 |
0 |
| c.2419C>T |
p.(Arg807Trp) |
0 |
0 |
| c.2420G>A |
p.(Arg807Gln) |
0 |
0 |
| c.2423T>C |
p.(Ile808Thr) |
0 |
0 |
| c.2428G>A |
p.(Val810Met) |
0 |
0 |
| c.2432C>T |
p.(Thr811Met) |
0 |
0 |
| c.2432C>G |
p.(Thr811Arg) |
0 |
0 |
| c.2458G>C |
p.(Ala820Pro) |
0 |
0 |
| c.2477T>C |
p.(Leu826Pro) |
0 |
0 |
| c.2488G>C |
p.(Ala830Pro) |
0 |
0 |
| c.2501T>C |
p.(Met834Thr) |
0 |
0 |
| c.2542A>G |
p.(Met848Val) |
0 |
0 |
| c.2552T>C |
p.(Leu851Pro) |
0 |
0 |
| c.2643G>T |
p.(Arg881Ser) |
0 |
0 |
| c.2659C>T |
p.(Arg887Cys) |
0 |
0 |
| c.2695C>T |
p.(Arg899Cys) |
0 |
0 |
| c.2696G>A |
p.(Arg899His) |
0 |
0 |
| c.2707G>C |
p.(Glu903Gln) |
0 |
0 |
| c.2782G>A |
p.(Gly928Ser) |
0 |
0 |
| c.2800G>C |
p.(Val934Leu) |
0 |
0 |
| c.2831C>T |
p.(Thr944Ile) |
0 |
0 |
| c.2836C>A |
p.(Leu946Ile) |
0 |
0 |
| c.2843T>C |
p.(Leu948Pro) |
0 |
0 |
| c.2848G>A |
p.(Ala950Thr) |
0 |
0 |
| c.2855T>G |
p.(Phe952Cys) |
0 |
0 |
| c.2858T>A |
p.(Leu953His) |
0 |
0 |
| c.2875G>A |
p.(Val959Met) |
0 |
0 |
| c.2891G>C |
p.(Arg964Pro) |
0 |
0 |
| c.2911T>C |
p.(Trp971Arg) |
0 |
0 |
| c.2935G>C |
p.(Gly979Arg) |
0 |
0 |
| c.2943G>T |
p.(Gln981His) |
0 |
0 |
| c.2965G>A |
p.(Gly989Arg) |
0 |
0 |
| c.2974G>C |
p.(Gly992Arg) |
0 |
0 |
| c.2974G>A |
p.(Gly992Arg) |
0 |
0 |
| c.3032T>C |
p.(Leu1011Pro) |
0 |
0 |
| c.3064C>G |
p.(Gln1022Glu) |
0 |
0 |
| c.3074T>C |
p.(Leu1025Pro) |
0 |
0 |
| c.3107T>C |
p.(Phe1036Ser) |
0 |
0 |
| c.3109G>A |
p.(Glu1037Lys) |
0 |
0 |
| c.3119C>T |
p.(Pro1040Leu) |
0 |
0 |
| c.3124G>A |
p.(Gly1042Ser) |
0 |
0 |
| c.3145T>G |
p.(Ser1049Ala) |
0 |
0 |
| c.3168C>A |
p.(Asp1056Glu) |
0 |
0 |
| c.3188T>G |
p.(Leu1063Arg) |
0 |
0 |
| c.3188T>C |
p.(Leu1063Pro) |
0 |
0 |
| c.3190C>T |
p.(Arg1064Trp) |
0 |
0 |
| c.3208G>C |
p.(Ala1070Pro) |
0 |
0 |
| c.3287T>A |
p.(Leu1096His) |
0 |
0 |
| c.3289C>A |
p.(Leu1097Ile) |
0 |
0 |
| c.3340C>T |
p.(Arg1114Cys) |
0 |
0 |
| c.3341G>A |
p.(Arg1114His) |
0 |
0 |
| c.3341G>C |
p.(Arg1114Pro) |
0 |
0 |
| c.3362C>T |
p.(Ser1121Leu) |
0 |
0 |
| c.3362C>G |
p.(Ser1121Trp) |
0 |
0 |
| c.3370T>C |
p.(Cys1124Arg) |
0 |
0 |
| c.3373T>C |
p.(Ser1125Pro) |
0 |
0 |
| c.3374C>T |
p.(Ser1125Phe) |
0 |
0 |
| c.3380T>C |
p.(Met1127Thr) |
0 |
0 |
| c.3381G>A |
p.(Met1127Ile) |
0 |
0 |
| c.3389C>T |
p.(Thr1130Met) |
0 |
0 |
| c.3397G>T |
p.(Gly1133Cys) |
0 |
0 |
| c.3398G>C |
p.(Gly1133Ala) |
0 |
0 |
| c.3412C>T |
p.(Arg1138Trp) |
0 |
0 |
| c.3413G>A |
p.(Arg1138Gln) |
0 |
0 |
| c.3413G>C |
p.(Arg1138Pro) |
0 |
0 |
| c.3415G>A |
p.(Ala1139Thr) |
0 |
0 |
| c.3422G>A |
p.(Arg1141Gln) |
0 |
0 |
| c.3437T>C |
p.(Phe1146Ser) |
0 |
0 |
| c.3475A>G |
p.(Arg1159Gly) |
0 |
0 |
| c.3491G>A |
p.(Arg1164Gln) |
0 |
0 |
| c.3533T>C |
p.(Leu1178Pro) |
0 |
0 |
| c.3542G>A |
p.(Gly1181Asp) |
0 |
0 |
| c.3557C>A |
p.(Ala1186Asp) |
0 |
0 |
| c.3608G>A |
p.(Gly1203Asp) |
0 |
0 |
| c.3644C>T |
p.(Thr1215Ile) |
0 |
0 |
| c.3661C>T |
p.(Arg1221Cys) |
0 |
0 |
| c.3662G>A |
p.(Arg1221His) |
0 |
0 |
| c.3676C>A |
p.(Leu1226Ile) |
0 |
0 |
| c.3691G>A |
p.(Val1231Met) |
0 |
0 |
| c.3703C>T |
p.(Arg1235Trp) |
0 |
0 |
| c.3712G>C |
p.(Asp1238His) |
0 |
0 |
| c.3715T>C |
p.(Tyr1239His) |
0 |
0 |
| c.3723G>C |
p.(Trp1241Cys) |
0 |
0 |
| c.3735G>T |
p.(Glu1245Asp) |
0 |
0 |
| c.3739C>T |
p.(Pro1247Ser) |
0 |
0 |
| c.3751C>T |
p.(Pro1251Ser) |
0 |
0 |
| c.3787G>A |
p.(Gly1263Arg) |
0 |
0 |
| c.3802C>T |
p.(Arg1268Trp) |
0 |
0 |
| c.3803G>A |
p.(Arg1268Gln) |
0 |
0 |
| c.3818G>A |
p.(Arg1273Lys) |
0 |
0 |
| c.3871G>A |
p.(Ala1291Thr) |
0 |
0 |
| c.3877G>A |
p.(Glu1293Lys) |
0 |
0 |
| c.3887G>A |
p.(Gly1296Asp) |
0 |
0 |
| c.3892G>T |
p.(Val1298Phe) |
0 |
0 |
| c.3895G>A |
p.(Gly1299Ser) |
0 |
0 |
| c.3902C>T |
p.(Thr1301Ile) |
0 |
0 |
| c.3904G>A |
p.(Gly1302Arg) |
0 |
0 |
| c.3907G>C |
p.(Ala1303Pro) |
0 |
0 |
| c.3919T>C |
p.(Ser1307Pro) |
0 |
0 |
| c.3932G>A |
p.(Gly1311Glu) |
0 |
0 |
| c.3940C>T |
p.(Arg1314Trp) |
0 |
0 |
| c.3941G>A |
p.(Arg1314Gln) |
0 |
0 |
| c.3953C>G |
p.(Ala1318Gly) |
0 |
0 |
| c.3961G>A |
p.(Gly1321Ser) |
0 |
0 |
| c.3976G>T |
p.(Asp1326Tyr) |
0 |
0 |
| c.3979G>A |
p.(Gly1327Arg) |
0 |
0 |
| c.3980G>A |
p.(Gly1327Glu) |
0 |
0 |
| c.4004T>A |
p.(Leu1335Gln) |
0 |
0 |
| c.4004T>C |
p.(Leu1335Pro) |
0 |
0 |
| c.4015C>T |
p.(Arg1339Cys) |
0 |
0 |
| c.4016G>A |
p.(Arg1339His) |
0 |
0 |
| c.4016G>T |
p.(Arg1339Leu) |
0 |
0 |
| c.4025T>C |
p.(Ile1342Thr) |
0 |
0 |
| c.4036C>T |
p.(Pro1346Ser) |
0 |
0 |
| c.4041G>C |
p.(Gln1347His) |
0 |
0 |
| c.4048A>C |
p.(Ile1350Leu) |
0 |
0 |
| c.4060G>C |
p.(Gly1354Arg) |
0 |
0 |
| c.4069C>T |
p.(Arg1357Trp) |
0 |
0 |
| c.4070G>C |
p.(Arg1357Pro) |
0 |
0 |
| c.4078C>T |
p.(Leu1360Phe) |
0 |
0 |
| c.4081G>A |
p.(Asp1361Asn) |
0 |
0 |
| c.4091A>C |
p.(Gln1364Pro) |
0 |
0 |
| c.4105G>A |
p.(Glu1369Lys) |
0 |
0 |
| c.4153G>C |
p.(Ala1385Pro) |
0 |
0 |
| c.4163C>T |
p.(Pro1388Leu) |
0 |
0 |
| c.4182G>T |
p.(Lys1394Asn) |
0 |
0 |
| c.4189G>A |
p.(Asp1397Asn) |
0 |
0 |
| c.4198G>A |
p.(Glu1400Lys) |
0 |
0 |
| c.4209C>A |
p.(Ser1403Arg) |
0 |
0 |
| c.4213G>A |
p.(Gly1405Ser) |
0 |
0 |
| c.4216C>A |
p.(Gln1406Lys) |
0 |
0 |
| c.4240C>T |
p.(Arg1414Cys) |
0 |
0 |
| c.4241G>A |
p.(Arg1414His) |
0 |
0 |
| c.4249C>G |
p.(Leu1417Val) |
0 |
0 |
| c.4253G>A |
p.(Arg1418Gln) |
0 |
0 |
| c.4271T>C |
p.(Ile1424Thr) |
0 |
0 |
| c.4279G>A |
p.(Glu1427Lys) |
0 |
0 |
| c.4279G>C |
p.(Glu1427Gln) |
0 |
0 |
| c.4324G>A |
p.(Ala1442Thr) |
0 |
0 |
| c.4375C>T |
p.(Arg1459Cys) |
0 |
0 |
| c.4376G>A |
p.(Arg1459His) |
0 |
0 |
| c.4381C>T |
p.(Arg1461Cys) |
0 |
0 |
| c.4441G>A |
p.(Gly1481Ser) |
0 |
0 |
| c.4448C>T |
p.(Pro1483Leu) |
0 |
0 |
| c.4501G>A |
p.(Gly1501Ser) |
0 |
0 |
| c-notation based on refseq NM_001171.6 |
|
0 |
0 |
| p-notation based on NP_001162.5 |
|
0 |
0 |
| Abbreviations |
|
0 |
0 |
| a protein domains: |
C: C-loop |
0 |
0 |
|
L: linker domain |
0 |
0 |
|
NBD: nucleotide-binding domain |
0 |
0 |
|
PDZ: PDZ-like domain |
0 |
0 |
|
Q: loop |
0 |
0 |
|
TMD: transmembrane domain |
0 |
0 |
|
WA: walker A motif |
0 |
0 |
|
WB: walker B motif |
0 |
0 |
| b topology: |
EC: extracellular |
0 |
0 |
|
helical: transmembranous |
0 |
0 |
|
IC: intracellular (cytoplasmic) |
0 |
0 |
| c variant frequency |
AF: total population frequency found in gnomAD (%) |
0 |
0 |
|
A: absent |
0 |
0 |
|
Afr: African population population frequency |
0 |
0 |
|
Eur: European (Non-Finnish) population frequency |
0 |
0 |
|
Jew: Ashkenazi Jewish |
0 |
0 |
|
S-As: South-Asian population frequency |
0 |
0 |
|
R: recurrent (> 10 unrelated observations in affected individuals) |
0 |
0 |
|
°: based on adjusted AF threshold 0,01% |
0 |
0 |
|
extra P: if multiple observartions in unrelated affecteds > 10 |
0 |
0 |
| d affecteds |
X: number of unrelated observations |
0 |
0 |
|
R: recurrent (> 10 unrelated observations in affected individuals) |
0 |
0 |
| e status |
CH: compound heterozygous (phase unconfirmed) |
0 |
0 |
|
CH in trans: Y (yes) 2nd variant is trans acting; N (no) 2nd variant is cis acting (phase confirmed through parental testing) |
0 |
0 |
|
HO: homozygous |
0 |
0 |
|
HT: heterozygous |
0 |
0 |
|
?: unknown |
0 |
0 |
|
alternate CoD: alternate cause of disease |
0 |
0 |
|
not required phenotype: individual does not have PXE-related phenotype |
0 |
0 |
|
segregation data needed: when AF > 0,01% and < 0,3% then only evidence from segregation data can be used to score points |
0 |
0 |
|
AF too high: > 0,3% thus clinical observations cannot be used to score points |
0 |
0 |
| f segregation |
W: weak (1 family; at least 3 informative individuals of which minimum 1 affected) |
0 |
0 |
|
M: moderate (2 or more families; at least 6 informative individuals of which minimum 2 affected) |
0 |
0 |
|
S: strong (2 or more families; at least 10 informative individuals of which minimum 3 affected) |
0 |
0 |
|
lack of segregation: variant does not cosegregate with disease phenotype |
0 |
0 |
|
segregation with other variants (in LD): variant was described to cosegregate with another variant |
0 |
0 |
| g variant type |
CLASS 1: benign variant reported at same residue |
0 |
0 |
|
CLASS 3: VUS reported at same residue |
0 |
0 |
|
CRIT RES: critical residue of which substantial evidence demonstrates the importance of this residue for proper protein function (physical interactions, highly conserved motifs,…) |
0 |
0 |
|
FUN DOM: functional domain |
0 |
0 |
|
ID RES: identical AA substitution (caused by a different nucleotide change) is pathogenic. Additional points for EV0135 or EV0101 will not be added to final calculated score. Do not apply if the allele count for the variant is above the expected pathogenic range. |
0 |
0 |
|
IMP RES: (likely) pathogenic variant (class 4 or 5) is reported at the same residue |
0 |
0 |
|
MISS: missense variant |
0 |
0 |
|
MUT HOT: mutational hotspot |
0 |
0 |
|
SPLICE: splice site variant |
0 |
0 |
|
LAST NT: last nucleotide of exon |
0 |
0 |
| h experimental data |
I: impact |
0 |
0 |
|
NI: no impact |
0 |
0 |
|
W: weak |
0 |
0 |
|
S: strong |
0 |
0 |
| i computational predictions |
C0: most unlikely to be deleterious |
0 |
0 |
|
C15-25: unlikely to be deleterious |
0 |
0 |
|
C35-55: possibly deleterious |
0 |
0 |
|
C65: most likely deleterious |
0 |
0 |
|
C: conflicting |
0 |
0 |
|
D: delerious (at least 3 out of 4 tools predict a deleterious effect) |
0 |
0 |
|
ND: not-deleterious (at least 3 out of 4 tools predict a not-deleterious effect) |
0 |
0 |
| j ClinVar interpretation |
(1 star): criteria provided by single submitter OR criteria provided with conflicting interpretations |
0 |
0 |
|
(2 stars): criteria provided by multiple submitters with no conflicts |
0 |
0 |
| k Hierarchical approach |
CLIN: clinical evidence |
0 |
0 |
|
FUN: functional evidence |
0 |
0 |
|
PRED: prediction data |
0 |
0 |
|
UNC: unclear |
0 |
0 |
| general |
DIS: disregarded |
0 |
0 |
|
NF: not found |
0 |
0 |
|
−: not applicable |
0 |
0 |
|
novel variant |
0 |
0 |
