Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26285490_26285513del | CA2658218253 | HADHB | c.1308_1331del (p.Leu437_Arg444del) c.939_962del (p.Leu314_Arg321del) n.2255_2278del c.1263_1286del (p.Leu422_Arg429del) c.1242_1265del (p.Leu415_Arg422del) c.1278_1301del (p.Leu427_Arg434del) | gnomAD v4 |
2 | g.26285490G>A | CA425202108 | HADHB | c.1308G>A (p.Arg436=) c.939G>A (p.Arg313=) n.2255G>A c.1263G>A (p.Arg421=) c.1242G>A (p.Arg414=) c.1278G>A (p.Arg426=) | |
2 | g.26285490G>C | CA346096826 | HADHB | c.1308G>C (p.Arg436Ser) c.939G>C (p.Arg313Ser) n.2255G>C c.1263G>C (p.Arg421Ser) c.1242G>C (p.Arg414Ser) c.1278G>C (p.Arg426Ser) | |
2 | g.26285490G>T | CA346096827 | HADHB | c.1308G>T (p.Arg436Ser) c.939G>T (p.Arg313Ser) n.2255G>T c.1263G>T (p.Arg421Ser) c.1242G>T (p.Arg414Ser) c.1278G>T (p.Arg426Ser) | |
2 | g.26285491T>A | CA346096828 | HADHB | c.1309T>A (p.Leu437Met) c.940T>A (p.Leu314Met) n.2256T>A c.1264T>A (p.Leu422Met) c.1243T>A (p.Leu415Met) c.1279T>A (p.Leu427Met) | |
2 | g.26285491T>C | CA425202113 | HADHB | c.1309T>C (p.Leu437=) c.940T>C (p.Leu314=) n.2256T>C c.1264T>C (p.Leu422=) c.1243T>C (p.Leu415=) c.1279T>C (p.Leu427=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285491T>G | CA346096829 | HADHB | c.1309T>G (p.Leu437Val) c.940T>G (p.Leu314Val) n.2256T>G c.1264T>G (p.Leu422Val) c.1243T>G (p.Leu415Val) c.1279T>G (p.Leu427Val) | dbSNP |
2 | g.26285491T= | CA1239745841 | HADHB | c.1309T= (p.Leu437=) c.940T= (p.Leu314=) n.2256T= c.1264T= (p.Leu422=) c.1243T= (p.Leu415=) c.1279T= (p.Leu427=) | |
2 | g.26285492T>A | CA346096830 | HADHB | c.1310T>A (p.Leu437Ter) c.941T>A (p.Leu314Ter) n.2257T>A c.1265T>A (p.Leu422Ter) c.1244T>A (p.Leu415Ter) c.1280T>A (p.Leu427Ter) | |
2 | g.26285492T>C | CA346096831 | HADHB | c.1310T>C (p.Leu437Ser) c.941T>C (p.Leu314Ser) n.2257T>C c.1265T>C (p.Leu422Ser) c.1244T>C (p.Leu415Ser) c.1280T>C (p.Leu427Ser) | |
2 | g.26285492T>G | CA346096832 | HADHB | c.1310T>G (p.Leu437Trp) c.941T>G (p.Leu314Trp) n.2257T>G c.1265T>G (p.Leu422Trp) c.1244T>G (p.Leu415Trp) c.1280T>G (p.Leu427Trp) | |
2 | g.26285493G>A | CA425202115 | HADHB | c.1311G>A (p.Leu437=) c.942G>A (p.Leu314=) n.2258G>A c.1266G>A (p.Leu422=) c.1245G>A (p.Leu415=) c.1281G>A (p.Leu427=) | |
2 | g.26285493G>C | CA346096833 | HADHB | c.1311G>C (p.Leu437Phe) c.942G>C (p.Leu314Phe) n.2258G>C c.1266G>C (p.Leu422Phe) c.1245G>C (p.Leu415Phe) c.1281G>C (p.Leu427Phe) | |
2 | g.26285493G>T | CA346096834 | HADHB | c.1311G>T (p.Leu437Phe) c.942G>T (p.Leu314Phe) n.2258G>T c.1266G>T (p.Leu422Phe) c.1245G>T (p.Leu415Phe) c.1281G>T (p.Leu427Phe) | |
2 | g.26285494G>A | CA346096835 | HADHB | c.1312G>A (p.Val438Ile) c.943G>A (p.Val315Ile) n.2259G>A c.1267G>A (p.Val423Ile) c.1246G>A (p.Val416Ile) c.1282G>A (p.Val428Ile) | gnomAD v4 |
2 | g.26285494G>C | CA346096836 | HADHB | c.1312G>C (p.Val438Leu) c.943G>C (p.Val315Leu) n.2259G>C c.1267G>C (p.Val423Leu) c.1246G>C (p.Val416Leu) c.1282G>C (p.Val428Leu) | |
2 | g.26285494G= | CA1239745842 | HADHB | c.1312G= (p.Val438=) c.943G= (p.Val315=) n.2259G= c.1267G= (p.Val423=) c.1246G= (p.Val416=) c.1282G= (p.Val428=) | |
2 | g.26285494G>T | CA1560511 | HADHB | c.1312G>T (p.Val438Phe) c.943G>T (p.Val315Phe) n.2259G>T c.1267G>T (p.Val423Phe) c.1246G>T (p.Val416Phe) c.1282G>T (p.Val428Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285495T>A | CA346096838 | HADHB | c.1313T>A (p.Val438Asp) c.944T>A (p.Val315Asp) n.2260T>A c.1268T>A (p.Val423Asp) c.1247T>A (p.Val416Asp) c.1283T>A (p.Val428Asp) | |
2 | g.26285495T>C | CA346096839 | HADHB | c.1313T>C (p.Val438Ala) c.944T>C (p.Val315Ala) n.2260T>C c.1268T>C (p.Val423Ala) c.1247T>C (p.Val416Ala) c.1283T>C (p.Val428Ala) | |
2 | g.26285495T>G | CA346096837 | HADHB | c.1313T>G (p.Val438Gly) c.944T>G (p.Val315Gly) n.2260T>G c.1268T>G (p.Val423Gly) c.1247T>G (p.Val416Gly) c.1283T>G (p.Val428Gly) | |
2 | g.26285496C>A | CA425202125 | HADHB | c.1314C>A (p.Val438=) c.945C>A (p.Val315=) n.2261C>A c.1269C>A (p.Val423=) c.1248C>A (p.Val416=) c.1284C>A (p.Val428=) | gnomAD v4 |
2 | g.26285496C>G | CA425202123 | HADHB | c.1314C>G (p.Val438=) c.945C>G (p.Val315=) n.2261C>G c.1269C>G (p.Val423=) c.1248C>G (p.Val416=) c.1284C>G (p.Val428=) | |
2 | g.26285496C>T | CA425202122 | HADHB | c.1314C>T (p.Val438=) c.945C>T (p.Val315=) n.2261C>T c.1269C>T (p.Val423=) c.1248C>T (p.Val416=) c.1284C>T (p.Val428=) | |
2 | g.26285497A= | CA1239745843 | HADHB | c.1315A= (p.Met439=) c.946A= (p.Met316=) n.2262A= c.1270A= (p.Met424=) c.1249A= (p.Met417=) c.1285A= (p.Met429=) | |
2 | g.26285497A>C | CA346096841 | HADHB | c.1315A>C (p.Met439Leu) c.946A>C (p.Met316Leu) n.2262A>C c.1270A>C (p.Met424Leu) c.1249A>C (p.Met417Leu) c.1285A>C (p.Met429Leu) | |
2 | g.26285497A>G | CA346096840 | HADHB | c.1315A>G (p.Met439Val) c.946A>G (p.Met316Val) n.2262A>G c.1270A>G (p.Met424Val) c.1249A>G (p.Met417Val) c.1285A>G (p.Met429Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285497A>T | CA346096842 | HADHB | c.1315A>T (p.Met439Leu) c.946A>T (p.Met316Leu) n.2262A>T c.1270A>T (p.Met424Leu) c.1249A>T (p.Met417Leu) c.1285A>T (p.Met429Leu) | |
2 | g.26285498T>A | CA346096843 | HADHB | c.1316T>A (p.Met439Lys) c.947T>A (p.Met316Lys) n.2263T>A c.1271T>A (p.Met424Lys) c.1250T>A (p.Met417Lys) c.1286T>A (p.Met429Lys) | |
2 | g.26285498T>C | CA346096844 | HADHB | c.1316T>C (p.Met439Thr) c.947T>C (p.Met316Thr) n.2263T>C c.1271T>C (p.Met424Thr) c.1250T>C (p.Met417Thr) c.1286T>C (p.Met429Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285498T>G | CA346096845 | HADHB | c.1316T>G (p.Met439Arg) c.947T>G (p.Met316Arg) n.2263T>G c.1271T>G (p.Met424Arg) c.1250T>G (p.Met417Arg) c.1286T>G (p.Met429Arg) | |
2 | g.26285498T= | CA1239745844 | HADHB | c.1316T= (p.Met439=) c.947T= (p.Met316=) n.2263T= c.1271T= (p.Met424=) c.1250T= (p.Met417=) c.1286T= (p.Met429=) | |
2 | g.26285499G>A | CA346096846 | HADHB | c.1317G>A (p.Met439Ile) c.948G>A (p.Met316Ile) n.2264G>A c.1272G>A (p.Met424Ile) c.1251G>A (p.Met417Ile) c.1287G>A (p.Met429Ile) | |
2 | g.26285499G>C | CA346096847 | HADHB | c.1317G>C (p.Met439Ile) c.948G>C (p.Met316Ile) n.2264G>C c.1272G>C (p.Met424Ile) c.1251G>C (p.Met417Ile) c.1287G>C (p.Met429Ile) | |
2 | g.26285499G>T | CA346096848 | HADHB | c.1317G>T (p.Met439Ile) c.948G>T (p.Met316Ile) n.2264G>T c.1272G>T (p.Met424Ile) c.1251G>T (p.Met417Ile) c.1287G>T (p.Met429Ile) | |
2 | g.26285500G>A | CA346096849 | HADHB | c.1318G>A (p.Ala440Thr) c.949G>A (p.Ala317Thr) n.2265G>A c.1273G>A (p.Ala425Thr) c.1252G>A (p.Ala418Thr) c.1288G>A (p.Ala430Thr) | |
2 | g.26285500G>C | CA346096850 | HADHB | c.1318G>C (p.Ala440Pro) c.949G>C (p.Ala317Pro) n.2265G>C c.1273G>C (p.Ala425Pro) c.1252G>C (p.Ala418Pro) c.1288G>C (p.Ala430Pro) | |
2 | g.26285500G>T | CA346096851 | HADHB | c.1318G>T (p.Ala440Ser) c.949G>T (p.Ala317Ser) n.2265G>T c.1273G>T (p.Ala425Ser) c.1252G>T (p.Ala418Ser) c.1288G>T (p.Ala430Ser) | |
2 | g.26285501C>A | CA346096852 | HADHB | c.1319C>A (p.Ala440Asp) c.950C>A (p.Ala317Asp) n.2266C>A c.1274C>A (p.Ala425Asp) c.1253C>A (p.Ala418Asp) c.1289C>A (p.Ala430Asp) | |
2 | g.26285501C= | CA1239745845 | HADHB | c.1319C= (p.Ala440=) c.950C= (p.Ala317=) n.2266C= c.1274C= (p.Ala425=) c.1253C= (p.Ala418=) c.1289C= (p.Ala430=) | |
2 | g.26285501C>G | CA1560512 | HADHB | c.1319C>G (p.Ala440Gly) c.950C>G (p.Ala317Gly) n.2266C>G c.1274C>G (p.Ala425Gly) c.1253C>G (p.Ala418Gly) c.1289C>G (p.Ala430Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285501C>T | CA346096853 | HADHB | c.1319C>T (p.Ala440Val) c.950C>T (p.Ala317Val) n.2266C>T c.1274C>T (p.Ala425Val) c.1253C>T (p.Ala418Val) c.1289C>T (p.Ala430Val) | |
2 | g.26285502T>A | CA425202135 | HADHB | c.1320T>A (p.Ala440=) c.951T>A (p.Ala317=) n.2267T>A c.1275T>A (p.Ala425=) c.1254T>A (p.Ala418=) c.1290T>A (p.Ala430=) | dbSNP |
2 | g.26285502T>C | CA425202137 | HADHB | c.1320T>C (p.Ala440=) c.951T>C (p.Ala317=) n.2267T>C c.1275T>C (p.Ala425=) c.1254T>C (p.Ala418=) c.1290T>C (p.Ala430=) | |
2 | g.26285502T>G | CA425202136 | HADHB | c.1320T>G (p.Ala440=) c.951T>G (p.Ala317=) n.2267T>G c.1275T>G (p.Ala425=) c.1254T>G (p.Ala418=) c.1290T>G (p.Ala430=) | |
2 | g.26285502T= | CA1239745846 | HADHB | c.1320T= (p.Ala440=) c.951T= (p.Ala317=) n.2267T= c.1275T= (p.Ala425=) c.1254T= (p.Ala418=) c.1290T= (p.Ala430=) | |
2 | g.26285503G>A | CA1560513 | HADHB | c.1321G>A (p.Ala441Thr) c.952G>A (p.Ala318Thr) n.2268G>A c.1276G>A (p.Ala426Thr) c.1255G>A (p.Ala419Thr) c.1291G>A (p.Ala431Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285503G>C | CA346096855 | HADHB | c.1321G>C (p.Ala441Pro) c.952G>C (p.Ala318Pro) n.2268G>C c.1276G>C (p.Ala426Pro) c.1255G>C (p.Ala419Pro) c.1291G>C (p.Ala431Pro) | |
2 | g.26285503G= | CA1239745847 | HADHB | c.1321G= (p.Ala441=) c.952G= (p.Ala318=) n.2268G= c.1276G= (p.Ala426=) c.1255G= (p.Ala419=) c.1291G= (p.Ala431=) | |
2 | g.26285503G>T | CA346096854 | HADHB | c.1321G>T (p.Ala441Ser) c.952G>T (p.Ala318Ser) n.2268G>T c.1276G>T (p.Ala426Ser) c.1255G>T (p.Ala419Ser) c.1291G>T (p.Ala431Ser) | |
2 | g.26285504C>A | CA346096856 | HADHB | c.1322C>A (p.Ala441Asp) c.953C>A (p.Ala318Asp) n.2269C>A c.1277C>A (p.Ala426Asp) c.1256C>A (p.Ala419Asp) c.1292C>A (p.Ala431Asp) | |
2 | g.26285504C= | CA1239745848 | HADHB | c.1322C= (p.Ala441=) c.953C= (p.Ala318=) n.2269C= c.1277C= (p.Ala426=) c.1256C= (p.Ala419=) c.1292C= (p.Ala431=) | |
2 | g.26285504C>G | CA346096857 | HADHB | c.1322C>G (p.Ala441Gly) c.953C>G (p.Ala318Gly) n.2269C>G c.1277C>G (p.Ala426Gly) c.1256C>G (p.Ala419Gly) c.1292C>G (p.Ala431Gly) | dbSNP |
2 | g.26285504C>T | CA346096858 | HADHB | c.1322C>T (p.Ala441Val) c.953C>T (p.Ala318Val) n.2269C>T c.1277C>T (p.Ala426Val) c.1256C>T (p.Ala419Val) c.1292C>T (p.Ala431Val) | |
2 | g.26285505T>A | CA425202140 | HADHB | c.1323T>A (p.Ala441=) c.954T>A (p.Ala318=) n.2270T>A c.1278T>A (p.Ala426=) c.1257T>A (p.Ala419=) c.1293T>A (p.Ala431=) | |
2 | g.26285505T>C | CA425202142 | HADHB | c.1323T>C (p.Ala441=) c.954T>C (p.Ala318=) n.2270T>C c.1278T>C (p.Ala426=) c.1257T>C (p.Ala419=) c.1293T>C (p.Ala431=) | |
2 | g.26285505T>G | CA425202144 | HADHB | c.1323T>G (p.Ala441=) c.954T>G (p.Ala318=) n.2270T>G c.1278T>G (p.Ala426=) c.1257T>G (p.Ala419=) c.1293T>G (p.Ala431=) | |
2 | g.26285506G>A | CA346096859 | HADHB | c.1324G>A (p.Ala442Thr) c.955G>A (p.Ala319Thr) n.2271G>A c.1279G>A (p.Ala427Thr) c.1258G>A (p.Ala420Thr) c.1294G>A (p.Ala432Thr) | |
2 | g.26285506G>C | CA346096860 | HADHB | c.1324G>C (p.Ala442Pro) c.955G>C (p.Ala319Pro) n.2271G>C c.1279G>C (p.Ala427Pro) c.1258G>C (p.Ala420Pro) c.1294G>C (p.Ala432Pro) | |
2 | g.26285506G>T | CA346096861 | HADHB | c.1324G>T (p.Ala442Ser) c.955G>T (p.Ala319Ser) n.2271G>T c.1279G>T (p.Ala427Ser) c.1258G>T (p.Ala420Ser) c.1294G>T (p.Ala432Ser) | |
2 | g.26285507C>A | CA346096862 | HADHB | c.1325C>A (p.Ala442Asp) c.956C>A (p.Ala319Asp) n.2272C>A c.1280C>A (p.Ala427Asp) c.1259C>A (p.Ala420Asp) c.1295C>A (p.Ala432Asp) | |
2 | g.26285507C>G | CA346096863 | HADHB | c.1325C>G (p.Ala442Gly) c.956C>G (p.Ala319Gly) n.2272C>G c.1280C>G (p.Ala427Gly) c.1259C>G (p.Ala420Gly) c.1295C>G (p.Ala432Gly) | |
2 | g.26285507C>T | CA346096864 | HADHB | c.1325C>T (p.Ala442Val) c.956C>T (p.Ala319Val) n.2272C>T c.1280C>T (p.Ala427Val) c.1259C>T (p.Ala420Val) c.1295C>T (p.Ala432Val) | |
2 | g.26285508C>A | CA425202147 | HADHB | c.1326C>A (p.Ala442=) c.957C>A (p.Ala319=) n.2273C>A c.1281C>A (p.Ala427=) c.1260C>A (p.Ala420=) c.1296C>A (p.Ala432=) | |
2 | g.26285508C>G | CA425202149 | HADHB | c.1326C>G (p.Ala442=) c.957C>G (p.Ala319=) n.2273C>G c.1281C>G (p.Ala427=) c.1260C>G (p.Ala420=) c.1296C>G (p.Ala432=) | |
2 | g.26285508C>T | CA425202148 | HADHB | c.1326C>T (p.Ala442=) c.957C>T (p.Ala319=) n.2273C>T c.1281C>T (p.Ala427=) c.1260C>T (p.Ala420=) c.1296C>T (p.Ala432=) | |
2 | g.26285509A>C | CA346096865 | HADHB | c.1327A>C (p.Asn443His) c.958A>C (p.Asn320His) n.2274A>C c.1282A>C (p.Asn428His) c.1261A>C (p.Asn421His) c.1297A>C (p.Asn433His) | |
2 | g.26285509A>G | CA346096866 | HADHB | c.1327A>G (p.Asn443Asp) c.958A>G (p.Asn320Asp) n.2274A>G c.1282A>G (p.Asn428Asp) c.1261A>G (p.Asn421Asp) c.1297A>G (p.Asn433Asp) | |
2 | g.26285509A>T | CA346096867 | HADHB | c.1327A>T (p.Asn443Tyr) c.958A>T (p.Asn320Tyr) n.2274A>T c.1282A>T (p.Asn428Tyr) c.1261A>T (p.Asn421Tyr) c.1297A>T (p.Asn433Tyr) | |
2 | g.26285510A= | CA1239745849 | HADHB | c.1328A= (p.Asn443=) c.959A= (p.Asn320=) n.2275A= c.1283A= (p.Asn428=) c.1262A= (p.Asn421=) c.1298A= (p.Asn433=) | |
2 | g.26285510A>C | CA346096870 | HADHB | c.1328A>C (p.Asn443Thr) c.959A>C (p.Asn320Thr) n.2275A>C c.1283A>C (p.Asn428Thr) c.1262A>C (p.Asn421Thr) c.1298A>C (p.Asn433Thr) | |
2 | g.26285510A>G | CA346096869 | HADHB | c.1328A>G (p.Asn443Ser) c.959A>G (p.Asn320Ser) n.2275A>G c.1283A>G (p.Asn428Ser) c.1262A>G (p.Asn421Ser) c.1298A>G (p.Asn433Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285510A>T | CA346096868 | HADHB | c.1328A>T (p.Asn443Ile) c.959A>T (p.Asn320Ile) n.2275A>T c.1283A>T (p.Asn428Ile) c.1262A>T (p.Asn421Ile) c.1298A>T (p.Asn433Ile) | |
2 | g.26285511C>A | CA346096871 | HADHB | c.1329C>A (p.Asn443Lys) c.960C>A (p.Asn320Lys) n.2276C>A c.1284C>A (p.Asn428Lys) c.1263C>A (p.Asn421Lys) c.1299C>A (p.Asn433Lys) | |
2 | g.26285511C= | CA1239745850 | HADHB | c.1329C= (p.Asn443=) c.960C= (p.Asn320=) n.2276C= c.1284C= (p.Asn428=) c.1263C= (p.Asn421=) c.1299C= (p.Asn433=) | |
2 | g.26285511C>G | CA1560514 | HADHB | c.1329C>G (p.Asn443Lys) c.960C>G (p.Asn320Lys) n.2276C>G c.1284C>G (p.Asn428Lys) c.1263C>G (p.Asn421Lys) c.1299C>G (p.Asn433Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285511C>T | CA425202153 | HADHB | c.1329C>T (p.Asn443=) c.960C>T (p.Asn320=) n.2276C>T c.1284C>T (p.Asn428=) c.1263C>T (p.Asn421=) c.1299C>T (p.Asn433=) | |
2 | g.26285512A= | CA1239745851 | HADHB | c.1330A= (p.Arg444=) c.961A= (p.Arg321=) n.2277A= c.1285A= (p.Arg429=) c.1264A= (p.Arg422=) c.1300A= (p.Arg434=) | |
2 | g.26285512A>C | CA425202156 | HADHB | c.1330A>C (p.Arg444=) c.961A>C (p.Arg321=) n.2277A>C c.1285A>C (p.Arg429=) c.1264A>C (p.Arg422=) c.1300A>C (p.Arg434=) | |
2 | g.26285512A>G | CA1560515 | HADHB | c.1330A>G (p.Arg444Gly) c.961A>G (p.Arg321Gly) n.2277A>G c.1285A>G (p.Arg429Gly) c.1264A>G (p.Arg422Gly) c.1300A>G (p.Arg434Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285512A>T | CA346096872 | HADHB | c.1330A>T (p.Arg444Ter) c.961A>T (p.Arg321Ter) n.2277A>T c.1285A>T (p.Arg429Ter) c.1264A>T (p.Arg422Ter) c.1300A>T (p.Arg434Ter) | |
2 | g.26285513G>A | CA341341 | HADHB | c.1331G>A (p.Arg444Lys) c.962G>A (p.Arg321Lys) n.2278G>A c.1286G>A (p.Arg429Lys) c.1265G>A (p.Arg422Lys) c.1301G>A (p.Arg434Lys) | ClinVar dbSNP |
2 | g.26285513G>C | CA346096873 | HADHB | c.1331G>C (p.Arg444Thr) c.962G>C (p.Arg321Thr) n.2278G>C c.1286G>C (p.Arg429Thr) c.1265G>C (p.Arg422Thr) c.1301G>C (p.Arg434Thr) | |
2 | g.26285513G= | CA1239745852 | HADHB | c.1331G= (p.Arg444=) c.962G= (p.Arg321=) n.2278G= c.1286G= (p.Arg429=) c.1265G= (p.Arg422=) c.1301G= (p.Arg434=) | |
2 | g.26285513G>T | CA346096874 | HADHB | c.1331G>T (p.Arg444Ile) c.962G>T (p.Arg321Ile) n.2278G>T c.1286G>T (p.Arg429Ile) c.1265G>T (p.Arg422Ile) c.1301G>T (p.Arg434Ile) | |
2 | g.26285514A= | CA1239745853 | HADHB | c.1332A= (p.Arg444=) c.963A= (p.Arg321=) n.2279A= c.1287A= (p.Arg429=) c.1266A= (p.Arg422=) c.1302A= (p.Arg434=) | |
2 | g.26285514A>C | CA346096875 | HADHB | c.1332A>C (p.Arg444Ser) c.963A>C (p.Arg321Ser) n.2279A>C c.1287A>C (p.Arg429Ser) c.1266A>C (p.Arg422Ser) c.1302A>C (p.Arg434Ser) | |
2 | g.26285514A>G | CA1560516 | HADHB | c.1332A>G (p.Arg444=) c.963A>G (p.Arg321=) n.2279A>G c.1287A>G (p.Arg429=) c.1266A>G (p.Arg422=) c.1302A>G (p.Arg434=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285514A>T | CA346096876 | HADHB | c.1332A>T (p.Arg444Ser) c.963A>T (p.Arg321Ser) n.2279A>T c.1287A>T (p.Arg429Ser) c.1266A>T (p.Arg422Ser) c.1302A>T (p.Arg434Ser) | |
2 | g.26285515T>A | CA346096877 | HADHB | c.1333T>A (p.Leu445Ile) c.964T>A (p.Leu322Ile) n.2280T>A c.1288T>A (p.Leu430Ile) c.1267T>A (p.Leu423Ile) c.1303T>A (p.Leu435Ile) | |
2 | g.26285515T>C | CA425202161 | HADHB | c.1333T>C (p.Leu445=) c.964T>C (p.Leu322=) n.2280T>C c.1288T>C (p.Leu430=) c.1267T>C (p.Leu423=) c.1303T>C (p.Leu435=) | |
2 | g.26285515T>G | CA346096878 | HADHB | c.1333T>G (p.Leu445Val) c.964T>G (p.Leu322Val) n.2280T>G c.1288T>G (p.Leu430Val) c.1267T>G (p.Leu423Val) c.1303T>G (p.Leu435Val) | |
2 | g.26285516T>A | CA346096881 | HADHB | c.1334T>A (p.Leu445Ter) c.965T>A (p.Leu322Ter) n.2281T>A c.1289T>A (p.Leu430Ter) c.1268T>A (p.Leu423Ter) c.1304T>A (p.Leu435Ter) | |
2 | g.26285516T>C | CA346096880 | HADHB | c.1334T>C (p.Leu445Ser) c.965T>C (p.Leu322Ser) n.2281T>C c.1289T>C (p.Leu430Ser) c.1268T>C (p.Leu423Ser) c.1304T>C (p.Leu435Ser) | |
2 | g.26285516T>G | CA346096879 | HADHB | c.1334T>G (p.Leu445Ter) c.965T>G (p.Leu322Ter) n.2281T>G c.1289T>G (p.Leu430Ter) c.1268T>G (p.Leu423Ter) c.1304T>G (p.Leu435Ter) | ClinVar |
2 | g.26285517A>C | CA346096882 | HADHB | c.1335A>C (p.Leu445Phe) c.966A>C (p.Leu322Phe) n.2282A>C c.1290A>C (p.Leu430Phe) c.1269A>C (p.Leu423Phe) c.1305A>C (p.Leu435Phe) | |
2 | g.26285517A>G | CA425202166 | HADHB | c.1335A>G (p.Leu445=) c.966A>G (p.Leu322=) n.2282A>G c.1290A>G (p.Leu430=) c.1269A>G (p.Leu423=) c.1305A>G (p.Leu435=) | |
2 | g.26285517A>T | CA346096883 | HADHB | c.1335A>T (p.Leu445Phe) c.966A>T (p.Leu322Phe) n.2282A>T c.1290A>T (p.Leu430Phe) c.1269A>T (p.Leu423Phe) c.1305A>T (p.Leu435Phe) | |
2 | g.26285518C>A | CA425202167 | HADHB | c.1336C>A (p.Arg446=) c.967C>A (p.Arg323=) n.2283C>A c.1291C>A (p.Arg431=) c.1270C>A (p.Arg424=) c.1306C>A (p.Arg436=) | |
2 | g.26285518C= | CA1239745854 | HADHB | c.1336C= (p.Arg446=) c.967C= (p.Arg323=) n.2283C= c.1291C= (p.Arg431=) c.1270C= (p.Arg424=) c.1306C= (p.Arg436=) | |
2 | g.26285518C>G | CA346096884 | HADHB | c.1336C>G (p.Arg446Gly) c.967C>G (p.Arg323Gly) n.2283C>G c.1291C>G (p.Arg431Gly) c.1270C>G (p.Arg424Gly) c.1306C>G (p.Arg436Gly) | gnomAD v4 |
2 | g.26285518C>T | CA1560517 | HADHB | c.1336C>T (p.Arg446Trp) c.967C>T (p.Arg323Trp) n.2283C>T c.1291C>T (p.Arg431Trp) c.1270C>T (p.Arg424Trp) c.1306C>T (p.Arg436Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285519G>A | CA1560518 | HADHB | c.1337G>A (p.Arg446Gln) c.968G>A (p.Arg323Gln) n.2284G>A c.1292G>A (p.Arg431Gln) c.1271G>A (p.Arg424Gln) c.1307G>A (p.Arg436Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.26285519G>C | CA346096885 | HADHB | c.1337G>C (p.Arg446Pro) c.968G>C (p.Arg323Pro) n.2284G>C c.1292G>C (p.Arg431Pro) c.1271G>C (p.Arg424Pro) c.1307G>C (p.Arg436Pro) | |
2 | g.26285519G= | CA1239745855 | HADHB | c.1337G= (p.Arg446=) c.968G= (p.Arg323=) n.2284G= c.1292G= (p.Arg431=) c.1271G= (p.Arg424=) c.1307G= (p.Arg436=) | |
2 | g.26285519G>T | CA346096886 | HADHB | c.1337G>T (p.Arg446Leu) c.968G>T (p.Arg323Leu) n.2284G>T c.1292G>T (p.Arg431Leu) c.1271G>T (p.Arg424Leu) c.1307G>T (p.Arg436Leu) | |
2 | g.26285520G>A | CA425202171 | HADHB | c.1338G>A (p.Arg446=) c.969G>A (p.Arg323=) n.2285G>A c.1293G>A (p.Arg431=) c.1272G>A (p.Arg424=) c.1308G>A (p.Arg436=) | |
2 | g.26285520G>C | CA425202172 | HADHB | c.1338G>C (p.Arg446=) c.969G>C (p.Arg323=) n.2285G>C c.1293G>C (p.Arg431=) c.1272G>C (p.Arg424=) c.1308G>C (p.Arg436=) | |
2 | g.26285520G>T | CA425202173 | HADHB | c.1338G>T (p.Arg446=) c.969G>T (p.Arg323=) n.2285G>T c.1293G>T (p.Arg431=) c.1272G>T (p.Arg424=) c.1308G>T (p.Arg436=) | |
2 | g.26285521A= | CA1239745857 | HADHB | c.1339A= (p.Lys447=) c.970A= (p.Lys324=) n.2286A= c.1294A= (p.Lys432=) c.1273A= (p.Lys425=) c.1309A= (p.Lys437=) | |
2 | g.26285521A>C | CA346096887 | HADHB | c.1339A>C (p.Lys447Gln) c.970A>C (p.Lys324Gln) n.2286A>C c.1294A>C (p.Lys432Gln) c.1273A>C (p.Lys425Gln) c.1309A>C (p.Lys437Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285521A>G | CA346096888 | HADHB | c.1339A>G (p.Lys447Glu) c.970A>G (p.Lys324Glu) n.2286A>G c.1294A>G (p.Lys432Glu) c.1273A>G (p.Lys425Glu) c.1309A>G (p.Lys437Glu) | |
2 | g.26285521A>T | CA346096889 | HADHB | c.1339A>T (p.Lys447Ter) c.970A>T (p.Lys324Ter) n.2286A>T c.1294A>T (p.Lys432Ter) c.1273A>T (p.Lys425Ter) c.1309A>T (p.Lys437Ter) | |
2 | g.26285521_26285524delinsAAAG | CA1239745856 | HADHB | c.1339_1342delinsAAAG (p.Lys447=) c.970_973delinsAAAG (p.Lys324=) n.2286_2289delinsAAAG c.1294_1297delinsAAAG (p.Lys432=) c.1273_1276delinsAAAG (p.Lys425=) c.1309_1312delinsAAAG (p.Lys437=) | |
2 | g.26285522A>C | CA346096890 | HADHB | c.1340A>C (p.Lys447Thr) c.971A>C (p.Lys324Thr) n.2287A>C c.1295A>C (p.Lys432Thr) c.1274A>C (p.Lys425Thr) c.1310A>C (p.Lys437Thr) | |
2 | g.26285522A>G | CA346096891 | HADHB | c.1340A>G (p.Lys447Arg) c.971A>G (p.Lys324Arg) n.2287A>G c.1295A>G (p.Lys432Arg) c.1274A>G (p.Lys425Arg) c.1310A>G (p.Lys437Arg) | gnomAD v4 |
2 | g.26285522A>T | CA346096892 | HADHB | c.1340A>T (p.Lys447Ile) c.971A>T (p.Lys324Ile) n.2287A>T c.1295A>T (p.Lys432Ile) c.1274A>T (p.Lys425Ile) c.1310A>T (p.Lys437Ile) | |
2 | g.26285525_26285527del | CA531395192 | HADHB | c.1343_1345del (p.Glu448del) c.974_976del (p.Glu325del) n.2290_2292del c.1298_1300del (p.Glu433del) c.1277_1279del (p.Glu426del) c.1313_1315del (p.Glu438del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285523A= | CA1239745858 | HADHB | c.1341A= (p.Lys447=) c.972A= (p.Lys324=) n.2288A= c.1296A= (p.Lys432=) c.1275A= (p.Lys425=) c.1311A= (p.Lys437=) | |
2 | g.26285523A>C | CA346096893 | HADHB | c.1341A>C (p.Lys447Asn) c.972A>C (p.Lys324Asn) n.2288A>C c.1296A>C (p.Lys432Asn) c.1275A>C (p.Lys425Asn) c.1311A>C (p.Lys437Asn) | |
2 | g.26285523A>G | CA425202176 | HADHB | c.1341A>G (p.Lys447=) c.972A>G (p.Lys324=) n.2288A>G c.1296A>G (p.Lys432=) c.1275A>G (p.Lys425=) c.1311A>G (p.Lys437=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285523A>T | CA346096894 | HADHB | c.1341A>T (p.Lys447Asn) c.972A>T (p.Lys324Asn) n.2288A>T c.1296A>T (p.Lys432Asn) c.1275A>T (p.Lys425Asn) c.1311A>T (p.Lys437Asn) | |
2 | g.26285524G>A | CA346096895 | HADHB | c.1342G>A (p.Glu448Lys) c.973G>A (p.Glu325Lys) n.2289G>A c.1297G>A (p.Glu433Lys) c.1276G>A (p.Glu426Lys) c.1312G>A (p.Glu438Lys) | |
2 | g.26285524G>C | CA346096897 | HADHB | c.1342G>C (p.Glu448Gln) c.973G>C (p.Glu325Gln) n.2289G>C c.1297G>C (p.Glu433Gln) c.1276G>C (p.Glu426Gln) c.1312G>C (p.Glu438Gln) | |
2 | g.26285524G>T | CA346096896 | HADHB | c.1342G>T (p.Glu448Ter) c.973G>T (p.Glu325Ter) n.2289G>T c.1297G>T (p.Glu433Ter) c.1276G>T (p.Glu426Ter) c.1312G>T (p.Glu438Ter) | |
2 | g.26285525A= | CA1239745859 | HADHB | c.1343A= (p.Glu448=) c.974A= (p.Glu325=) n.2290A= c.1298A= (p.Glu433=) c.1277A= (p.Glu426=) c.1313A= (p.Glu438=) | |
2 | g.26285525A>C | CA346096898 | HADHB | c.1343A>C (p.Glu448Ala) c.974A>C (p.Glu325Ala) n.2290A>C c.1298A>C (p.Glu433Ala) c.1277A>C (p.Glu426Ala) c.1313A>C (p.Glu438Ala) | |
2 | g.26285525A>G | CA44342947 | HADHB | c.1343A>G (p.Glu448Gly) c.974A>G (p.Glu325Gly) n.2290A>G c.1298A>G (p.Glu433Gly) c.1277A>G (p.Glu426Gly) c.1313A>G (p.Glu438Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285525A>T | CA346096899 | HADHB | c.1343A>T (p.Glu448Val) c.974A>T (p.Glu325Val) n.2290A>T c.1298A>T (p.Glu433Val) c.1277A>T (p.Glu426Val) c.1313A>T (p.Glu438Val) | |
2 | g.26285526A>C | CA346096900 | HADHB | c.1344A>C (p.Glu448Asp) c.975A>C (p.Glu325Asp) n.2291A>C c.1299A>C (p.Glu433Asp) c.1278A>C (p.Glu426Asp) c.1314A>C (p.Glu438Asp) | |
2 | g.26285526A>G | CA425202183 | HADHB | c.1344A>G (p.Glu448=) c.975A>G (p.Glu325=) n.2291A>G c.1299A>G (p.Glu433=) c.1278A>G (p.Glu426=) c.1314A>G (p.Glu438=) | gnomAD v4 |
2 | g.26285526A>T | CA346096901 | HADHB | c.1344A>T (p.Glu448Asp) c.975A>T (p.Glu325Asp) n.2291A>T c.1299A>T (p.Glu433Asp) c.1278A>T (p.Glu426Asp) c.1314A>T (p.Glu438Asp) | |
2 | g.26285527G>A | CA346096902 | HADHB | c.1345G>A (p.Gly449Arg) c.976G>A (p.Gly326Arg) n.2292G>A c.1300G>A (p.Gly434Arg) c.1279G>A (p.Gly427Arg) c.1315G>A (p.Gly439Arg) | |
2 | g.26285527G>C | CA346096903 | HADHB | c.1345G>C (p.Gly449Arg) c.976G>C (p.Gly326Arg) n.2292G>C c.1300G>C (p.Gly434Arg) c.1279G>C (p.Gly427Arg) c.1315G>C (p.Gly439Arg) | |
2 | g.26285527G>T | CA346096904 | HADHB | c.1345G>T (p.Gly449Ter) c.976G>T (p.Gly326Ter) n.2292G>T c.1300G>T (p.Gly434Ter) c.1279G>T (p.Gly427Ter) c.1315G>T (p.Gly439Ter) | |
2 | g.26285528G>A | CA346096905 | HADHB | c.1346G>A (p.Gly449Glu) c.977G>A (p.Gly326Glu) n.2293G>A c.1301G>A (p.Gly434Glu) c.1280G>A (p.Gly427Glu) c.1316G>A (p.Gly439Glu) | |
2 | g.26285528G>C | CA346096906 | HADHB | c.1346G>C (p.Gly449Ala) c.977G>C (p.Gly326Ala) n.2293G>C c.1301G>C (p.Gly434Ala) c.1280G>C (p.Gly427Ala) c.1316G>C (p.Gly439Ala) | |
2 | g.26285528G>T | CA346096907 | HADHB | c.1346G>T (p.Gly449Val) c.977G>T (p.Gly326Val) n.2293G>T c.1301G>T (p.Gly434Val) c.1280G>T (p.Gly427Val) c.1316G>T (p.Gly439Val) | |
2 | g.26285529A>C | CA425202188 | HADHB | c.1347A>C (p.Gly449=) c.978A>C (p.Gly326=) n.2294A>C c.1302A>C (p.Gly434=) c.1281A>C (p.Gly427=) c.1317A>C (p.Gly439=) | |
2 | g.26285529A>G | CA425202190 | HADHB | c.1347A>G (p.Gly449=) c.978A>G (p.Gly326=) n.2294A>G c.1302A>G (p.Gly434=) c.1281A>G (p.Gly427=) c.1317A>G (p.Gly439=) | |
2 | g.26285529A>T | CA425202192 | HADHB | c.1347A>T (p.Gly449=) c.978A>T (p.Gly326=) n.2294A>T c.1302A>T (p.Gly434=) c.1281A>T (p.Gly427=) c.1317A>T (p.Gly439=) | |
2 | g.26285530G>A | CA346096910 | HADHB | c.1348G>A (p.Gly450Ser) c.979G>A (p.Gly327Ser) n.2295G>A c.1303G>A (p.Gly435Ser) c.1282G>A (p.Gly428Ser) c.1318G>A (p.Gly440Ser) | gnomAD v4 |
2 | g.26285530G>C | CA346096908 | HADHB | c.1348G>C (p.Gly450Arg) c.979G>C (p.Gly327Arg) n.2295G>C c.1303G>C (p.Gly435Arg) c.1282G>C (p.Gly428Arg) c.1318G>C (p.Gly440Arg) | |
2 | g.26285530G>T | CA346096909 | HADHB | c.1348G>T (p.Gly450Cys) c.979G>T (p.Gly327Cys) n.2295G>T c.1303G>T (p.Gly435Cys) c.1282G>T (p.Gly428Cys) c.1318G>T (p.Gly440Cys) | |
2 | g.26285531G>A | CA44342952 | HADHB | c.1349G>A (p.Gly450Asp) c.980G>A (p.Gly327Asp) n.2296G>A c.1304G>A (p.Gly435Asp) c.1283G>A (p.Gly428Asp) c.1319G>A (p.Gly440Asp) | dbSNP gnomAD v4 |
2 | g.26285531G>C | CA346096911 | HADHB | c.1349G>C (p.Gly450Ala) c.980G>C (p.Gly327Ala) n.2296G>C c.1304G>C (p.Gly435Ala) c.1283G>C (p.Gly428Ala) c.1319G>C (p.Gly440Ala) | gnomAD v4 |
2 | g.26285531G= | CA1239745860 | HADHB | c.1349G= (p.Gly450=) c.980G= (p.Gly327=) n.2296G= c.1304G= (p.Gly435=) c.1283G= (p.Gly428=) c.1319G= (p.Gly440=) | |
2 | g.26285531G>T | CA346096912 | HADHB | c.1349G>T (p.Gly450Val) c.980G>T (p.Gly327Val) n.2296G>T c.1304G>T (p.Gly435Val) c.1283G>T (p.Gly428Val) c.1319G>T (p.Gly440Val) | |
2 | g.26285532C>A | CA425202198 | HADHB | c.1350C>A (p.Gly450=) c.981C>A (p.Gly327=) n.2297C>A c.1305C>A (p.Gly435=) c.1284C>A (p.Gly428=) c.1320C>A (p.Gly440=) | ClinVar dbSNP gnomAD v4 |
2 | g.26285532C= | CA1239745861 | HADHB | c.1350C= (p.Gly450=) c.981C= (p.Gly327=) n.2297C= c.1305C= (p.Gly435=) c.1284C= (p.Gly428=) c.1320C= (p.Gly440=) | |
2 | g.26285532C>G | CA425202199 | HADHB | c.1350C>G (p.Gly450=) c.981C>G (p.Gly327=) n.2297C>G c.1305C>G (p.Gly435=) c.1284C>G (p.Gly428=) c.1320C>G (p.Gly440=) | |
2 | g.26285532C>T | CA425202200 | HADHB | c.1350C>T (p.Gly450=) c.981C>T (p.Gly327=) n.2297C>T c.1305C>T (p.Gly435=) c.1284C>T (p.Gly428=) c.1320C>T (p.Gly440=) | |
2 | g.26285533C>A | CA346096913 | HADHB | c.1351C>A (p.Gln451Lys) c.982C>A (p.Gln328Lys) n.2298C>A c.1306C>A (p.Gln436Lys) c.1285C>A (p.Gln429Lys) c.1321C>A (p.Gln441Lys) | |
2 | g.26285533C>G | CA346096914 | HADHB | c.1351C>G (p.Gln451Glu) c.982C>G (p.Gln328Glu) n.2298C>G c.1306C>G (p.Gln436Glu) c.1285C>G (p.Gln429Glu) c.1321C>G (p.Gln441Glu) | |
2 | g.26285533C>T | CA346096915 | HADHB | c.1351C>T (p.Gln451Ter) c.982C>T (p.Gln328Ter) n.2298C>T c.1306C>T (p.Gln436Ter) c.1285C>T (p.Gln429Ter) c.1321C>T (p.Gln441Ter) | |
2 | g.26285534A= | CA1239745862 | HADHB | c.1352A= (p.Gln451=) c.983A= (p.Gln328=) n.2299A= c.1307A= (p.Gln436=) c.1286A= (p.Gln429=) c.1322A= (p.Gln441=) | |
2 | g.26285534A>C | CA346096916 | HADHB | c.1352A>C (p.Gln451Pro) c.983A>C (p.Gln328Pro) n.2299A>C c.1307A>C (p.Gln436Pro) c.1286A>C (p.Gln429Pro) c.1322A>C (p.Gln441Pro) | |
2 | g.26285534A>G | CA346096917 | HADHB | c.1352A>G (p.Gln451Arg) c.983A>G (p.Gln328Arg) n.2299A>G c.1307A>G (p.Gln436Arg) c.1286A>G (p.Gln429Arg) c.1322A>G (p.Gln441Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285534A>T | CA346096918 | HADHB | c.1352A>T (p.Gln451Leu) c.983A>T (p.Gln328Leu) n.2299A>T c.1307A>T (p.Gln436Leu) c.1286A>T (p.Gln429Leu) c.1322A>T (p.Gln441Leu) | dbSNP gnomAD v4 |
2 | g.26285535G>A | CA425202203 | HADHB | c.1353G>A (p.Gln451=) c.984G>A (p.Gln328=) n.2300G>A c.1308G>A (p.Gln436=) c.1287G>A (p.Gln429=) c.1323G>A (p.Gln441=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285535G>C | CA346096919 | HADHB | c.1353G>C (p.Gln451His) c.984G>C (p.Gln328His) n.2300G>C c.1308G>C (p.Gln436His) c.1287G>C (p.Gln429His) c.1323G>C (p.Gln441His) | |
2 | g.26285535G= | CA1239745863 | HADHB | c.1353G= (p.Gln451=) c.984G= (p.Gln328=) n.2300G= c.1308G= (p.Gln436=) c.1287G= (p.Gln429=) c.1323G= (p.Gln441=) | |
2 | g.26285535G>T | CA346096920 | HADHB | c.1353G>T (p.Gln451His) c.984G>T (p.Gln328His) n.2300G>T c.1308G>T (p.Gln436His) c.1287G>T (p.Gln429His) c.1323G>T (p.Gln441His) | |
2 | g.26285536T>A | CA346096922 | HADHB | c.1354T>A (p.Tyr452Asn) c.985T>A (p.Tyr329Asn) n.2301T>A c.1309T>A (p.Tyr437Asn) c.1288T>A (p.Tyr430Asn) c.1324T>A (p.Tyr442Asn) | |
2 | g.26285536T>C | CA346096923 | HADHB | c.1354T>C (p.Tyr452His) c.985T>C (p.Tyr329His) n.2301T>C c.1309T>C (p.Tyr437His) c.1288T>C (p.Tyr430His) c.1324T>C (p.Tyr442His) | |
2 | g.26285536T>G | CA346096921 | HADHB | c.1354T>G (p.Tyr452Asp) c.985T>G (p.Tyr329Asp) n.2301T>G c.1309T>G (p.Tyr437Asp) c.1288T>G (p.Tyr430Asp) c.1324T>G (p.Tyr442Asp) | |
2 | g.26285537A>C | CA346096924 | HADHB | c.1355A>C (p.Tyr452Ser) c.986A>C (p.Tyr329Ser) n.2302A>C c.1310A>C (p.Tyr437Ser) c.1289A>C (p.Tyr430Ser) c.1325A>C (p.Tyr442Ser) | |
2 | g.26285537A>G | CA346096925 | HADHB | c.1355A>G (p.Tyr452Cys) c.986A>G (p.Tyr329Cys) n.2302A>G c.1310A>G (p.Tyr437Cys) c.1289A>G (p.Tyr430Cys) c.1325A>G (p.Tyr442Cys) | gnomAD v4 |
2 | g.26285537A>T | CA346096926 | HADHB | c.1355A>T (p.Tyr452Phe) c.986A>T (p.Tyr329Phe) n.2302A>T c.1310A>T (p.Tyr437Phe) c.1289A>T (p.Tyr430Phe) c.1325A>T (p.Tyr442Phe) | |
2 | g.26285538T>A | CA346096927 | HADHB | c.1356T>A (p.Tyr452Ter) c.987T>A (p.Tyr329Ter) n.2303T>A c.1311T>A (p.Tyr437Ter) c.1290T>A (p.Tyr430Ter) c.1326T>A (p.Tyr442Ter) | |
2 | g.26285538T>C | CA425202209 | HADHB | c.1356T>C (p.Tyr452=) c.987T>C (p.Tyr329=) n.2303T>C c.1311T>C (p.Tyr437=) c.1290T>C (p.Tyr430=) c.1326T>C (p.Tyr442=) | |
2 | g.26285538T>G | CA346096928 | HADHB | c.1356T>G (p.Tyr452Ter) c.987T>G (p.Tyr329Ter) n.2303T>G c.1311T>G (p.Tyr437Ter) c.1290T>G (p.Tyr430Ter) c.1326T>G (p.Tyr442Ter) | |
2 | g.26285539G>A | CA346096929 | HADHB | c.1357G>A (p.Gly453Ser) c.988G>A (p.Gly330Ser) n.2304G>A c.1312G>A (p.Gly438Ser) c.1291G>A (p.Gly431Ser) c.1327G>A (p.Gly443Ser) | ClinVar gnomAD v4 |
2 | g.26285539G>C | CA346096930 | HADHB | c.1357G>C (p.Gly453Arg) c.988G>C (p.Gly330Arg) n.2304G>C c.1312G>C (p.Gly438Arg) c.1291G>C (p.Gly431Arg) c.1327G>C (p.Gly443Arg) | |
2 | g.26285539G= | CA1239745864 | HADHB | c.1357G= (p.Gly453=) c.988G= (p.Gly330=) n.2304G= c.1312G= (p.Gly438=) c.1291G= (p.Gly431=) c.1327G= (p.Gly443=) | |
2 | g.26285539G>T | CA44342961 | HADHB | c.1357G>T (p.Gly453Cys) c.988G>T (p.Gly330Cys) n.2304G>T c.1312G>T (p.Gly438Cys) c.1291G>T (p.Gly431Cys) c.1327G>T (p.Gly443Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285540G>A | CA346096931 | HADHB | c.1358G>A (p.Gly453Asp) c.989G>A (p.Gly330Asp) n.2305G>A c.1313G>A (p.Gly438Asp) c.1292G>A (p.Gly431Asp) c.1328G>A (p.Gly443Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285540G>C | CA346096932 | HADHB | c.1358G>C (p.Gly453Ala) c.989G>C (p.Gly330Ala) n.2305G>C c.1313G>C (p.Gly438Ala) c.1292G>C (p.Gly431Ala) c.1328G>C (p.Gly443Ala) | |
2 | g.26285540G= | CA1239745865 | HADHB | c.1358G= (p.Gly453=) c.989G= (p.Gly330=) n.2305G= c.1313G= (p.Gly438=) c.1292G= (p.Gly431=) c.1328G= (p.Gly443=) | |
2 | g.26285540G>T | CA346096933 | HADHB | c.1358G>T (p.Gly453Val) c.989G>T (p.Gly330Val) n.2305G>T c.1313G>T (p.Gly438Val) c.1292G>T (p.Gly431Val) c.1328G>T (p.Gly443Val) | |
2 | g.26285541C>A | CA425202214 | HADHB | c.1359C>A (p.Gly453=) c.990C>A (p.Gly330=) n.2306C>A c.1314C>A (p.Gly438=) c.1293C>A (p.Gly431=) c.1329C>A (p.Gly443=) | gnomAD v4 |
2 | g.26285541C= | CA1239745866 | HADHB | c.1359C= (p.Gly453=) c.990C= (p.Gly330=) n.2306C= c.1314C= (p.Gly438=) c.1293C= (p.Gly431=) c.1329C= (p.Gly443=) | |
2 | g.26285541C>G | CA425202215 | HADHB | c.1359C>G (p.Gly453=) c.990C>G (p.Gly330=) n.2306C>G c.1314C>G (p.Gly438=) c.1293C>G (p.Gly431=) c.1329C>G (p.Gly443=) | |
2 | g.26285541C>T | CA425202216 | HADHB | c.1359C>T (p.Gly453=) c.990C>T (p.Gly330=) n.2306C>T c.1314C>T (p.Gly438=) c.1293C>T (p.Gly431=) c.1329C>T (p.Gly443=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285542T>A | CA346096934 | HADHB | c.1360T>A (p.Leu454Ile) c.991T>A (p.Leu331Ile) n.2307T>A c.1315T>A (p.Leu439Ile) c.1294T>A (p.Leu432Ile) c.1330T>A (p.Leu444Ile) | |
2 | g.26285542T>C | CA425202219 | HADHB | c.1360T>C (p.Leu454=) c.991T>C (p.Leu331=) n.2307T>C c.1315T>C (p.Leu439=) c.1294T>C (p.Leu432=) c.1330T>C (p.Leu444=) | |
2 | g.26285542T>G | CA346096935 | HADHB | c.1360T>G (p.Leu454Val) c.991T>G (p.Leu331Val) n.2307T>G c.1315T>G (p.Leu439Val) c.1294T>G (p.Leu432Val) c.1330T>G (p.Leu444Val) | |
2 | g.26285543T>A | CA346096938 | HADHB | c.1361T>A (p.Leu454Ter) c.992T>A (p.Leu331Ter) n.2308T>A c.1316T>A (p.Leu439Ter) c.1295T>A (p.Leu432Ter) c.1331T>A (p.Leu444Ter) | |
2 | g.26285543T>C | CA346096937 | HADHB | c.1361T>C (p.Leu454Ser) c.992T>C (p.Leu331Ser) n.2308T>C c.1316T>C (p.Leu439Ser) c.1295T>C (p.Leu432Ser) c.1331T>C (p.Leu444Ser) | |
2 | g.26285543T>G | CA346096936 | HADHB | c.1361T>G (p.Leu454Ter) c.992T>G (p.Leu331Ter) n.2308T>G c.1316T>G (p.Leu439Ter) c.1295T>G (p.Leu432Ter) c.1331T>G (p.Leu444Ter) | |
2 | g.26285544A= | CA1239745867 | HADHB | c.1362A= (p.Leu454=) c.993A= (p.Leu331=) n.2309A= c.1317A= (p.Leu439=) c.1296A= (p.Leu432=) c.1332A= (p.Leu444=) | |
2 | g.26285544A>C | CA346096939 | HADHB | c.1362A>C (p.Leu454Phe) c.993A>C (p.Leu331Phe) n.2309A>C c.1317A>C (p.Leu439Phe) c.1296A>C (p.Leu432Phe) c.1332A>C (p.Leu444Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285544A>G | CA425202223 | HADHB | c.1362A>G (p.Leu454=) c.993A>G (p.Leu331=) n.2309A>G c.1317A>G (p.Leu439=) c.1296A>G (p.Leu432=) c.1332A>G (p.Leu444=) | |
2 | g.26285544A>T | CA346096940 | HADHB | c.1362A>T (p.Leu454Phe) c.993A>T (p.Leu331Phe) n.2309A>T c.1317A>T (p.Leu439Phe) c.1296A>T (p.Leu432Phe) c.1332A>T (p.Leu444Phe) | |
2 | g.26285545G>A | CA44342982 | HADHB | c.1363G>A (p.Val455Met) c.994G>A (p.Val332Met) n.2310G>A c.1318G>A (p.Val440Met) c.1297G>A (p.Val433Met) c.1333G>A (p.Val445Met) | dbSNP |
2 | g.26285545G>C | CA346096941 | HADHB | c.1363G>C (p.Val455Leu) c.994G>C (p.Val332Leu) n.2310G>C c.1318G>C (p.Val440Leu) c.1297G>C (p.Val433Leu) c.1333G>C (p.Val445Leu) | gnomAD v4 |
2 | g.26285545G= | CA1239745868 | HADHB | c.1363G= (p.Val455=) c.994G= (p.Val332=) n.2310G= c.1318G= (p.Val440=) c.1297G= (p.Val433=) c.1333G= (p.Val445=) | |
2 | g.26285545G>T | CA346096942 | HADHB | c.1363G>T (p.Val455Leu) c.994G>T (p.Val332Leu) n.2310G>T c.1318G>T (p.Val440Leu) c.1297G>T (p.Val433Leu) c.1333G>T (p.Val445Leu) | |
2 | g.26285546T>A | CA1560520 | HADHB | c.1364T>A (p.Val455Glu) c.995T>A (p.Val332Glu) n.2311T>A c.1319T>A (p.Val440Glu) c.1298T>A (p.Val433Glu) c.1334T>A (p.Val445Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285546T>C | CA1560519 | HADHB | c.1364T>C (p.Val455Ala) c.995T>C (p.Val332Ala) n.2311T>C c.1319T>C (p.Val440Ala) c.1298T>C (p.Val433Ala) c.1334T>C (p.Val445Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285546T>G | CA341344 | HADHB | c.1364T>G (p.Val455Gly) c.995T>G (p.Val332Gly) n.2311T>G c.1319T>G (p.Val440Gly) c.1298T>G (p.Val433Gly) c.1334T>G (p.Val445Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285546T= | CA1239745869 | HADHB | c.1364T= (p.Val455=) c.995T= (p.Val332=) n.2311T= c.1319T= (p.Val440=) c.1298T= (p.Val433=) c.1334T= (p.Val445=) | |
2 | g.26285547G>A | CA425202227 | HADHB | c.1365G>A (p.Val455=) c.996G>A (p.Val332=) n.2312G>A c.1320G>A (p.Val440=) c.1299G>A (p.Val433=) c.1335G>A (p.Val445=) | |
2 | g.26285547G>C | CA425202229 | HADHB | c.1365G>C (p.Val455=) c.996G>C (p.Val332=) n.2312G>C c.1320G>C (p.Val440=) c.1299G>C (p.Val433=) c.1335G>C (p.Val445=) | |
2 | g.26285547G>T | CA425202231 | HADHB | c.1365G>T (p.Val455=) c.996G>T (p.Val332=) n.2312G>T c.1320G>T (p.Val440=) c.1299G>T (p.Val433=) c.1335G>T (p.Val445=) | |
2 | g.26285548G>A | CA346096943 | HADHB | c.1366G>A (p.Ala456Thr) c.997G>A (p.Ala333Thr) n.2313G>A c.1321G>A (p.Ala441Thr) c.1300G>A (p.Ala434Thr) c.1336G>A (p.Ala446Thr) | |
2 | g.26285548G>C | CA346096944 | HADHB | c.1366G>C (p.Ala456Pro) c.997G>C (p.Ala333Pro) n.2313G>C c.1321G>C (p.Ala441Pro) c.1300G>C (p.Ala434Pro) c.1336G>C (p.Ala446Pro) | |
2 | g.26285548G>T | CA346096945 | HADHB | c.1366G>T (p.Ala456Ser) c.997G>T (p.Ala333Ser) n.2313G>T c.1321G>T (p.Ala441Ser) c.1300G>T (p.Ala434Ser) c.1336G>T (p.Ala446Ser) | |
2 | g.26285549C>A | CA346096946 | HADHB | c.1367C>A (p.Ala456Asp) c.998C>A (p.Ala333Asp) n.2314C>A c.1322C>A (p.Ala441Asp) c.1301C>A (p.Ala434Asp) c.1337C>A (p.Ala446Asp) | |
2 | g.26285549C>G | CA346096947 | HADHB | c.1367C>G (p.Ala456Gly) c.998C>G (p.Ala333Gly) n.2314C>G c.1322C>G (p.Ala441Gly) c.1301C>G (p.Ala434Gly) c.1337C>G (p.Ala446Gly) | |
2 | g.26285549C>T | CA346096948 | HADHB | c.1367C>T (p.Ala456Val) c.998C>T (p.Ala333Val) n.2314C>T c.1322C>T (p.Ala441Val) c.1301C>T (p.Ala434Val) c.1337C>T (p.Ala446Val) | |
2 | g.26285550T>A | CA425202236 | HADHB | c.1368T>A (p.Ala456=) c.999T>A (p.Ala333=) n.2315T>A c.1323T>A (p.Ala441=) c.1302T>A (p.Ala434=) c.1338T>A (p.Ala446=) | |
2 | g.26285550T>C | CA425202237 | HADHB | c.1368T>C (p.Ala456=) c.999T>C (p.Ala333=) n.2315T>C c.1323T>C (p.Ala441=) c.1302T>C (p.Ala434=) c.1338T>C (p.Ala446=) | ClinVar |
2 | g.26285550T>G | CA425202239 | HADHB | c.1368T>G (p.Ala456=) c.999T>G (p.Ala333=) n.2315T>G c.1323T>G (p.Ala441=) c.1302T>G (p.Ala434=) c.1338T>G (p.Ala446=) | |
2 | g.26285550_26285559del | CA2658218254 | HADHB | c.1368_1377del (p.Ala457LeufsTer8) c.999_1008del (p.Ala334LeufsTer8) n.2315_2324del c.1323_1332del (p.Ala442LeufsTer8) c.1302_1311del (p.Ala435LeufsTer8) c.1338_1347del (p.Ala447LeufsTer8) | gnomAD v4 |
2 | g.26285551G>A | CA44343052 | HADHB | c.1369G>A (p.Ala457Thr) c.1000G>A (p.Ala334Thr) n.2316G>A c.1324G>A (p.Ala442Thr) c.1303G>A (p.Ala435Thr) c.1339G>A (p.Ala447Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285551G>C | CA346096950 | HADHB | c.1369G>C (p.Ala457Pro) c.1000G>C (p.Ala334Pro) n.2316G>C c.1324G>C (p.Ala442Pro) c.1303G>C (p.Ala435Pro) c.1339G>C (p.Ala447Pro) | |
2 | g.26285551G= | CA1239745870 | HADHB | c.1369G= (p.Ala457=) c.1000G= (p.Ala334=) n.2316G= c.1324G= (p.Ala442=) c.1303G= (p.Ala435=) c.1339G= (p.Ala447=) | |
2 | g.26285551G>T | CA346096949 | HADHB | c.1369G>T (p.Ala457Ser) c.1000G>T (p.Ala334Ser) n.2316G>T c.1324G>T (p.Ala442Ser) c.1303G>T (p.Ala435Ser) c.1339G>T (p.Ala447Ser) | |
2 | g.26285552C>A | CA346096952 | HADHB | c.1370C>A (p.Ala457Glu) c.1001C>A (p.Ala334Glu) n.2317C>A c.1325C>A (p.Ala442Glu) c.1304C>A (p.Ala435Glu) c.1340C>A (p.Ala447Glu) | |
2 | g.26285552C= | CA1239745871 | HADHB | c.1370C= (p.Ala457=) c.1001C= (p.Ala334=) n.2317C= c.1325C= (p.Ala442=) c.1304C= (p.Ala435=) c.1340C= (p.Ala447=) | |
2 | g.26285552C>G | CA346096951 | HADHB | c.1370C>G (p.Ala457Gly) c.1001C>G (p.Ala334Gly) n.2317C>G c.1325C>G (p.Ala442Gly) c.1304C>G (p.Ala435Gly) c.1340C>G (p.Ala447Gly) | |
2 | g.26285552C>T | CA1560521 | HADHB | c.1370C>T (p.Ala457Val) c.1001C>T (p.Ala334Val) n.2317C>T c.1325C>T (p.Ala442Val) c.1304C>T (p.Ala435Val) c.1340C>T (p.Ala447Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285553G>A | CA1560522 | HADHB | c.1371G>A (p.Ala457=) c.1002G>A (p.Ala334=) n.2318G>A c.1326G>A (p.Ala442=) c.1305G>A (p.Ala435=) c.1341G>A (p.Ala447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285553G>C | CA425202241 | HADHB | c.1371G>C (p.Ala457=) c.1002G>C (p.Ala334=) n.2318G>C c.1326G>C (p.Ala442=) c.1305G>C (p.Ala435=) c.1341G>C (p.Ala447=) | gnomAD v4 |
2 | g.26285553G= | CA1239745872 | HADHB | c.1371G= (p.Ala457=) c.1002G= (p.Ala334=) n.2318G= c.1326G= (p.Ala442=) c.1305G= (p.Ala435=) c.1341G= (p.Ala447=) | |
2 | g.26285553G>T | CA1560523 | HADHB | c.1371G>T (p.Ala457=) c.1002G>T (p.Ala334=) n.2318G>T c.1326G>T (p.Ala442=) c.1305G>T (p.Ala435=) c.1341G>T (p.Ala447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285554T>A | CA346096954 | HADHB | c.1372T>A (p.Cys458Ser) c.1003T>A (p.Cys335Ser) n.2319T>A c.1327T>A (p.Cys443Ser) c.1306T>A (p.Cys436Ser) c.1342T>A (p.Cys448Ser) | |
2 | g.26285554T>C | CA346096956 | HADHB | c.1372T>C (p.Cys458Arg) c.1003T>C (p.Cys335Arg) n.2319T>C c.1327T>C (p.Cys443Arg) c.1306T>C (p.Cys436Arg) c.1342T>C (p.Cys448Arg) | |
2 | g.26285554T>G | CA346096958 | HADHB | c.1372T>G (p.Cys458Gly) c.1003T>G (p.Cys335Gly) n.2319T>G c.1327T>G (p.Cys443Gly) c.1306T>G (p.Cys436Gly) c.1342T>G (p.Cys448Gly) | |
2 | g.26285555G>A | CA346096960 | HADHB | c.1373G>A (p.Cys458Tyr) c.1004G>A (p.Cys335Tyr) n.2320G>A c.1328G>A (p.Cys443Tyr) c.1307G>A (p.Cys436Tyr) c.1343G>A (p.Cys448Tyr) | |
2 | g.26285555G>C | CA346096961 | HADHB | c.1373G>C (p.Cys458Ser) c.1004G>C (p.Cys335Ser) n.2320G>C c.1328G>C (p.Cys443Ser) c.1307G>C (p.Cys436Ser) c.1343G>C (p.Cys448Ser) | gnomAD v4 |
2 | g.26285555G>T | CA346096963 | HADHB | c.1373G>T (p.Cys458Phe) c.1004G>T (p.Cys335Phe) n.2320G>T c.1328G>T (p.Cys443Phe) c.1307G>T (p.Cys436Phe) c.1343G>T (p.Cys448Phe) | |
2 | g.26285556T>A | CA346096965 | HADHB | c.1374T>A (p.Cys458Ter) c.1005T>A (p.Cys335Ter) n.2321T>A c.1329T>A (p.Cys443Ter) c.1308T>A (p.Cys436Ter) c.1344T>A (p.Cys448Ter) | |
2 | g.26285556T>C | CA425202244 | HADHB | c.1374T>C (p.Cys458=) c.1005T>C (p.Cys335=) n.2321T>C c.1329T>C (p.Cys443=) c.1308T>C (p.Cys436=) c.1344T>C (p.Cys448=) | |
2 | g.26285556T>G | CA346096967 | HADHB | c.1374T>G (p.Cys458Trp) c.1005T>G (p.Cys335Trp) n.2321T>G c.1329T>G (p.Cys443Trp) c.1308T>G (p.Cys436Trp) c.1344T>G (p.Cys448Trp) | |
2 | g.26285557G>A | CA346096969 | HADHB | c.1375G>A (p.Ala459Thr) c.1006G>A (p.Ala336Thr) n.2322G>A c.1330G>A (p.Ala444Thr) c.1309G>A (p.Ala437Thr) c.1345G>A (p.Ala449Thr) | ClinVar dbSNP gnomAD v2 |
2 | g.26285557G>C | CA346096971 | HADHB | c.1375G>C (p.Ala459Pro) c.1006G>C (p.Ala336Pro) n.2322G>C c.1330G>C (p.Ala444Pro) c.1309G>C (p.Ala437Pro) c.1345G>C (p.Ala449Pro) | |
2 | g.26285557G= | CA1239745873 | HADHB | c.1375G= (p.Ala459=) c.1006G= (p.Ala336=) n.2322G= c.1330G= (p.Ala444=) c.1309G= (p.Ala437=) c.1345G= (p.Ala449=) | |
2 | g.26285557G>T | CA346096973 | HADHB | c.1375G>T (p.Ala459Ser) c.1006G>T (p.Ala336Ser) n.2322G>T c.1330G>T (p.Ala444Ser) c.1309G>T (p.Ala437Ser) c.1345G>T (p.Ala449Ser) | |
2 | g.26285558C>A | CA1560524 | HADHB | c.1376C>A (p.Ala459Glu) c.1007C>A (p.Ala336Glu) n.2323C>A c.1331C>A (p.Ala444Glu) c.1310C>A (p.Ala437Glu) c.1346C>A (p.Ala449Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285558C= | CA1239745874 | HADHB | c.1376C= (p.Ala459=) c.1007C= (p.Ala336=) n.2323C= c.1331C= (p.Ala444=) c.1310C= (p.Ala437=) c.1346C= (p.Ala449=) | |
2 | g.26285558C>G | CA346096977 | HADHB | c.1376C>G (p.Ala459Gly) c.1007C>G (p.Ala336Gly) n.2323C>G c.1331C>G (p.Ala444Gly) c.1310C>G (p.Ala437Gly) c.1346C>G (p.Ala449Gly) | |
2 | g.26285558C>T | CA346096975 | HADHB | c.1376C>T (p.Ala459Val) c.1007C>T (p.Ala336Val) n.2323C>T c.1331C>T (p.Ala444Val) c.1310C>T (p.Ala437Val) c.1346C>T (p.Ala449Val) | gnomAD v4 |
2 | g.26285559A>C | CA425202251 | HADHB | c.1377A>C (p.Ala459=) c.1008A>C (p.Ala336=) n.2324A>C c.1332A>C (p.Ala444=) c.1311A>C (p.Ala437=) c.1347A>C (p.Ala449=) | ClinVar |
2 | g.26285559A>G | CA425202252 | HADHB | c.1377A>G (p.Ala459=) c.1008A>G (p.Ala336=) n.2324A>G c.1332A>G (p.Ala444=) c.1311A>G (p.Ala437=) c.1347A>G (p.Ala449=) | |
2 | g.26285559A>T | CA425202254 | HADHB | c.1377A>T (p.Ala459=) c.1008A>T (p.Ala336=) n.2324A>T c.1332A>T (p.Ala444=) c.1311A>T (p.Ala437=) c.1347A>T (p.Ala449=) | |
2 | g.26285560G>A | CA346096980 | HADHB | c.1378G>A (p.Ala460Thr) c.1009G>A (p.Ala337Thr) n.2325G>A c.1333G>A (p.Ala445Thr) c.1312G>A (p.Ala438Thr) c.1348G>A (p.Ala450Thr) | dbSNP |
2 | g.26285560G>C | CA346096981 | HADHB | c.1378G>C (p.Ala460Pro) c.1009G>C (p.Ala337Pro) n.2325G>C c.1333G>C (p.Ala445Pro) c.1312G>C (p.Ala438Pro) c.1348G>C (p.Ala450Pro) | |
2 | g.26285560G= | CA1239745875 | HADHB | c.1378G= (p.Ala460=) c.1009G= (p.Ala337=) n.2325G= c.1333G= (p.Ala445=) c.1312G= (p.Ala438=) c.1348G= (p.Ala450=) | |
2 | g.26285560G>T | CA346096983 | HADHB | c.1378G>T (p.Ala460Ser) c.1009G>T (p.Ala337Ser) n.2325G>T c.1333G>T (p.Ala445Ser) c.1312G>T (p.Ala438Ser) c.1348G>T (p.Ala450Ser) | |
2 | g.26285561C>A | CA346096985 | HADHB | c.1379C>A (p.Ala460Asp) c.1010C>A (p.Ala337Asp) n.2326C>A c.1334C>A (p.Ala445Asp) c.1313C>A (p.Ala438Asp) c.1349C>A (p.Ala450Asp) | |
2 | g.26285561C>G | CA346096987 | HADHB | c.1379C>G (p.Ala460Gly) c.1010C>G (p.Ala337Gly) n.2326C>G c.1334C>G (p.Ala445Gly) c.1313C>G (p.Ala438Gly) c.1349C>G (p.Ala450Gly) | |
2 | g.26285561C>T | CA346096989 | HADHB | c.1379C>T (p.Ala460Val) c.1010C>T (p.Ala337Val) n.2326C>T c.1334C>T (p.Ala445Val) c.1313C>T (p.Ala438Val) c.1349C>T (p.Ala450Val) | COSMIC |
2 | g.26285562T>A | CA425202257 | HADHB | c.1380T>A (p.Ala460=) c.1011T>A (p.Ala337=) n.2327T>A c.1335T>A (p.Ala445=) c.1314T>A (p.Ala438=) c.1350T>A (p.Ala450=) | |
2 | g.26285562T>C | CA425202259 | HADHB | c.1380T>C (p.Ala460=) c.1011T>C (p.Ala337=) n.2327T>C c.1335T>C (p.Ala445=) c.1314T>C (p.Ala438=) c.1350T>C (p.Ala450=) | |
2 | g.26285562T>G | CA425202260 | HADHB | c.1380T>G (p.Ala460=) c.1011T>G (p.Ala337=) n.2327T>G c.1335T>G (p.Ala445=) c.1314T>G (p.Ala438=) c.1350T>G (p.Ala450=) | |
2 | g.26285563G>A | CA346096991 | HADHB | c.1381G>A (p.Gly461Arg) c.1012G>A (p.Gly338Arg) n.2328G>A c.1336G>A (p.Gly446Arg) c.1315G>A (p.Gly439Arg) c.1351G>A (p.Gly451Arg) | |
2 | g.26285563G>C | CA346096992 | HADHB | c.1381G>C (p.Gly461Arg) c.1012G>C (p.Gly338Arg) n.2328G>C c.1336G>C (p.Gly446Arg) c.1315G>C (p.Gly439Arg) c.1351G>C (p.Gly451Arg) | |
2 | g.26285563G>T | CA346096993 | HADHB | c.1381G>T (p.Gly461Ter) c.1012G>T (p.Gly338Ter) n.2328G>T c.1336G>T (p.Gly446Ter) c.1315G>T (p.Gly439Ter) c.1351G>T (p.Gly451Ter) | |
2 | g.26285564G>A | CA346096995 | HADHB | c.1382G>A (p.Gly461Glu) c.1013G>A (p.Gly338Glu) n.2329G>A c.1337G>A (p.Gly446Glu) c.1316G>A (p.Gly439Glu) c.1352G>A (p.Gly451Glu) | |
2 | g.26285564G>C | CA346096996 | HADHB | c.1382G>C (p.Gly461Ala) c.1013G>C (p.Gly338Ala) n.2329G>C c.1337G>C (p.Gly446Ala) c.1316G>C (p.Gly439Ala) c.1352G>C (p.Gly451Ala) | gnomAD v4 |
2 | g.26285564G>T | CA346096998 | HADHB | c.1382G>T (p.Gly461Val) c.1013G>T (p.Gly338Val) n.2329G>T c.1337G>T (p.Gly446Val) c.1316G>T (p.Gly439Val) c.1352G>T (p.Gly451Val) | |
2 | g.26285565A= | CA1239745876 | HADHB | c.1383A= (p.Gly461=) c.1014A= (p.Gly338=) n.2330A= c.1338A= (p.Gly446=) c.1317A= (p.Gly439=) c.1353A= (p.Gly451=) | |
2 | g.26285565A>C | CA425202267 | HADHB | c.1383A>C (p.Gly461=) c.1014A>C (p.Gly338=) n.2330A>C c.1338A>C (p.Gly446=) c.1317A>C (p.Gly439=) c.1353A>C (p.Gly451=) | |
2 | g.26285565A>G | CA425202265 | HADHB | c.1383A>G (p.Gly461=) c.1014A>G (p.Gly338=) n.2330A>G c.1338A>G (p.Gly446=) c.1317A>G (p.Gly439=) c.1353A>G (p.Gly451=) | |
2 | g.26285565A>T | CA425202263 | HADHB | c.1383A>T (p.Gly461=) c.1014A>T (p.Gly338=) n.2330A>T c.1338A>T (p.Gly446=) c.1317A>T (p.Gly439=) c.1353A>T (p.Gly451=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285566G>A | CA1560525 | HADHB | c.1384G>A (p.Gly462Arg) c.1015G>A (p.Gly339Arg) n.2331G>A c.1339G>A (p.Gly447Arg) c.1318G>A (p.Gly440Arg) c.1354G>A (p.Gly452Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285566G>C | CA346097004 | HADHB | c.1384G>C (p.Gly462Arg) c.1015G>C (p.Gly339Arg) n.2331G>C c.1339G>C (p.Gly447Arg) c.1318G>C (p.Gly440Arg) c.1354G>C (p.Gly452Arg) | |
2 | g.26285566G= | CA1239745877 | HADHB | c.1384G= (p.Gly462=) c.1015G= (p.Gly339=) n.2331G= c.1339G= (p.Gly447=) c.1318G= (p.Gly440=) c.1354G= (p.Gly452=) | |
2 | g.26285566G>T | CA346097001 | HADHB | c.1384G>T (p.Gly462Trp) c.1015G>T (p.Gly339Trp) n.2331G>T c.1339G>T (p.Gly447Trp) c.1318G>T (p.Gly440Trp) c.1354G>T (p.Gly452Trp) | |
2 | g.26285567G>A | CA346097007 | HADHB | c.1385G>A (p.Gly462Glu) c.1016G>A (p.Gly339Glu) n.2332G>A c.1340G>A (p.Gly447Glu) c.1319G>A (p.Gly440Glu) c.1355G>A (p.Gly452Glu) | |
2 | g.26285567G>C | CA346097009 | HADHB | c.1385G>C (p.Gly462Ala) c.1016G>C (p.Gly339Ala) n.2332G>C c.1340G>C (p.Gly447Ala) c.1319G>C (p.Gly440Ala) c.1355G>C (p.Gly452Ala) | |
2 | g.26285567G>T | CA346097010 | HADHB | c.1385G>T (p.Gly462Val) c.1016G>T (p.Gly339Val) n.2332G>T c.1340G>T (p.Gly447Val) c.1319G>T (p.Gly440Val) c.1355G>T (p.Gly452Val) | |
2 | g.26285568G>A | CA425202269 | HADHB | c.1386G>A (p.Gly462=) c.1017G>A (p.Gly339=) n.2333G>A c.1341G>A (p.Gly447=) c.1320G>A (p.Gly440=) c.1356G>A (p.Gly452=) | ClinVar |
2 | g.26285568G>C | CA425202270 | HADHB | c.1386G>C (p.Gly462=) c.1017G>C (p.Gly339=) n.2333G>C c.1341G>C (p.Gly447=) c.1320G>C (p.Gly440=) c.1356G>C (p.Gly452=) | |
2 | g.26285568G>T | CA425202273 | HADHB | c.1386G>T (p.Gly462=) c.1017G>T (p.Gly339=) n.2333G>T c.1341G>T (p.Gly447=) c.1320G>T (p.Gly440=) c.1356G>T (p.Gly452=) | |
2 | g.26285569C>A | CA346097013 | HADHB | c.1387C>A (p.Gln463Lys) c.1018C>A (p.Gln340Lys) n.2334C>A c.1342C>A (p.Gln448Lys) c.1321C>A (p.Gln441Lys) c.1357C>A (p.Gln453Lys) | |
2 | g.26285569C>G | CA346097015 | HADHB | c.1387C>G (p.Gln463Glu) c.1018C>G (p.Gln340Glu) n.2334C>G c.1342C>G (p.Gln448Glu) c.1321C>G (p.Gln441Glu) c.1357C>G (p.Gln453Glu) | ClinVar |
2 | g.26285569C>T | CA346097017 | HADHB | c.1387C>T (p.Gln463Ter) c.1018C>T (p.Gln340Ter) n.2334C>T c.1342C>T (p.Gln448Ter) c.1321C>T (p.Gln441Ter) c.1357C>T (p.Gln453Ter) | |
2 | g.26285570A>C | CA346097023 | HADHB | c.1388A>C (p.Gln463Pro) c.1019A>C (p.Gln340Pro) n.2335A>C c.1343A>C (p.Gln448Pro) c.1322A>C (p.Gln441Pro) c.1358A>C (p.Gln453Pro) | |
2 | g.26285570A>G | CA346097019 | HADHB | c.1388A>G (p.Gln463Arg) c.1019A>G (p.Gln340Arg) n.2335A>G c.1343A>G (p.Gln448Arg) c.1322A>G (p.Gln441Arg) c.1358A>G (p.Gln453Arg) | gnomAD v4 |
2 | g.26285570A>T | CA346097021 | HADHB | c.1388A>T (p.Gln463Leu) c.1019A>T (p.Gln340Leu) n.2335A>T c.1343A>T (p.Gln448Leu) c.1322A>T (p.Gln441Leu) c.1358A>T (p.Gln453Leu) | |
2 | g.26285571G>A | CA425202281 | HADHB | c.1389G>A (p.Gln463=) c.1020G>A (p.Gln340=) n.2336G>A c.1344G>A (p.Gln448=) c.1323G>A (p.Gln441=) c.1359G>A (p.Gln453=) | |
2 | g.26285571G>C | CA346097031 | HADHB | c.1389G>C (p.Gln463His) c.1020G>C (p.Gln340His) n.2336G>C c.1344G>C (p.Gln448His) c.1323G>C (p.Gln441His) c.1359G>C (p.Gln453His) | |
2 | g.26285571G>T | CA346097032 | HADHB | c.1389G>T (p.Gln463His) c.1020G>T (p.Gln340His) n.2336G>T c.1344G>T (p.Gln448His) c.1323G>T (p.Gln441His) c.1359G>T (p.Gln453His) | |
2 | g.26285572del | CA2698919067 | HADHB | c.1389+1del c.1020+1del n.2336+1del c.1344+1del c.1323+1del c.1359+1del | dbSNP |
2 | g.26285572G>A | CA346097033 | HADHB | c.1389+1G>A (n.1389+1G>A) c.1020+1G>A (n.1020+1G>A) n.2336+1G>A c.1344+1G>A (n.1344+1G>A) c.1323+1G>A (n.1323+1G>A) c.1359+1G>A (n.1359+1G>A) | ClinVar COSMIC COSMIC |
2 | g.26285572G>C | CA346097034 | HADHB | c.1389+1G>C (n.1389+1G>C) c.1020+1G>C (n.1020+1G>C) n.2336+1G>C c.1344+1G>C (n.1344+1G>C) c.1323+1G>C (n.1323+1G>C) c.1359+1G>C (n.1359+1G>C) | |
2 | g.26285572G>T | CA346097035 | HADHB | c.1389+1G>T (n.1389+1G>T) c.1020+1G>T (n.1020+1G>T) n.2336+1G>T c.1344+1G>T (n.1344+1G>T) c.1323+1G>T (n.1323+1G>T) c.1359+1G>T (n.1359+1G>T) | |
2 | g.26285572_26285573insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC | CA2749235095 | HADHB | c.1389+1_1389+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1389+1_1389+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC) c.1020+1_1020+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1020+1_1020+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC) n.2336+1_2336+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC c.1344+1_1344+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1344+1_1344+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC) c.1323+1_1323+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1323+1_1323+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC) c.1359+1_1359+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1359+1_1359+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC) | |
2 | g.26285573T>A | CA346097037 | HADHB | c.1389+2T>A (n.1389+2T>A) c.1020+2T>A (n.1020+2T>A) n.2336+2T>A c.1344+2T>A (n.1344+2T>A) c.1323+2T>A (n.1323+2T>A) c.1359+2T>A (n.1359+2T>A) | |
2 | g.26285573T>C | CA1560526 | HADHB | c.1389+2T>C (n.1389+2T>C) c.1020+2T>C (n.1020+2T>C) n.2336+2T>C c.1344+2T>C (n.1344+2T>C) c.1323+2T>C (n.1323+2T>C) c.1359+2T>C (n.1359+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285573T>G | CA346097039 | HADHB | c.1389+2T>G (n.1389+2T>G) c.1020+2T>G (n.1020+2T>G) n.2336+2T>G c.1344+2T>G (n.1344+2T>G) c.1323+2T>G (n.1323+2T>G) c.1359+2T>G (n.1359+2T>G) | dbSNP |
2 | g.26285573T= | CA1239745878 | HADHB | c.1389+2T= (n.1389+2T=) c.1020+2T= (n.1020+2T=) n.2336+2T= c.1344+2T= (n.1344+2T=) c.1323+2T= (n.1323+2T=) c.1359+2T= (n.1359+2T=) | |
2 | g.26285574A>G | CA2658218255 | HADHB | c.1389+3A>G (n.1389+3A>G) c.1020+3A>G (n.1020+3A>G) n.2336+3A>G c.1344+3A>G (n.1344+3A>G) c.1323+3A>G (n.1323+3A>G) c.1359+3A>G (n.1359+3A>G) | gnomAD v4 |
2 | g.26285575C>A | CA2658218256 | HADHB | c.1389+4C>A (n.1389+4C>A) c.1020+4C>A (n.1020+4C>A) n.2336+4C>A c.1344+4C>A (n.1344+4C>A) c.1323+4C>A (n.1323+4C>A) c.1359+4C>A (n.1359+4C>A) | gnomAD v4 |
2 | g.26285575C= | CA1239745879 | HADHB | c.1389+4C= (n.1389+4C=) c.1020+4C= (n.1020+4C=) n.2336+4C= c.1344+4C= (n.1344+4C=) c.1323+4C= (n.1323+4C=) c.1359+4C= (n.1359+4C=) | |
2 | g.26285575C>G | CA1239745880 | HADHB | c.1389+4C>G (n.1389+4C>G) c.1020+4C>G (n.1020+4C>G) n.2336+4C>G c.1344+4C>G (n.1344+4C>G) c.1323+4C>G (n.1323+4C>G) c.1359+4C>G (n.1359+4C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.26285575C>T | CA1560527 | HADHB | c.1389+4C>T (n.1389+4C>T) c.1020+4C>T (n.1020+4C>T) n.2336+4C>T c.1344+4C>T (n.1344+4C>T) c.1323+4C>T (n.1323+4C>T) c.1359+4C>T (n.1359+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285576G>A | CA531395199 | HADHB | c.1389+5G>A (n.1389+5G>A) c.1020+5G>A (n.1020+5G>A) n.2336+5G>A c.1344+5G>A (n.1344+5G>A) c.1323+5G>A (n.1323+5G>A) c.1359+5G>A (n.1359+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.26285576G= | CA1239745881 | HADHB | c.1389+5G= (n.1389+5G=) c.1020+5G= (n.1020+5G=) n.2336+5G= c.1344+5G= (n.1344+5G=) c.1323+5G= (n.1323+5G=) c.1359+5G= (n.1359+5G=) | |
2 | g.26285576G>T | CA2576697591 | HADHB | c.1389+5G>T (n.1389+5G>T) c.1020+5G>T (n.1020+5G>T) n.2336+5G>T c.1344+5G>T (n.1344+5G>T) c.1323+5G>T (n.1323+5G>T) c.1359+5G>T (n.1359+5G>T) | |
2 | g.26285578T= | CA1239745882 | HADHB | c.1389+7T= (n.1389+7T=) c.1020+7T= (n.1020+7T=) n.2336+7T= c.1344+7T= (n.1344+7T=) c.1323+7T= (n.1323+7T=) c.1359+7T= (n.1359+7T=) | |
2 | g.26285579A= | CA1239745883 | HADHB | c.1389+8A= (n.1389+8A=) c.1020+8A= (n.1020+8A=) n.2336+8A= c.1344+8A= (n.1344+8A=) c.1323+8A= (n.1323+8A=) c.1359+8A= (n.1359+8A=) | |
2 | g.26285579A>G | CA44343110 | HADHB | c.1389+8A>G (n.1389+8A>G) c.1020+8A>G (n.1020+8A>G) n.2336+8A>G c.1344+8A>G (n.1344+8A>G) c.1323+8A>G (n.1323+8A>G) c.1359+8A>G (n.1359+8A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285579A>T | CA2841533426 | HADHB | c.1389+8A>T (n.1389+8A>T) c.1020+8A>T (n.1020+8A>T) n.2336+8A>T c.1344+8A>T (n.1344+8A>T) c.1323+8A>T (n.1323+8A>T) c.1359+8A>T (n.1359+8A>T) | |
2 | g.26285579dup | CA658657012 | HADHB | c.1389+8dup (n.1389+8dup) c.1020+8dup (n.1020+8dup) n.2336+8dup c.1344+8dup (n.1344+8dup) c.1323+8dup (n.1323+8dup) c.1359+8dup (n.1359+8dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285579_26285584del | CA2658218257 | HADHB | c.1389+8_1389+13del (n.1389+8_1389+13del) c.1020+8_1020+13del (n.1020+8_1020+13del) n.2336+8_2336+13del c.1344+8_1344+13del (n.1344+8_1344+13del) c.1323+8_1323+13del (n.1323+8_1323+13del) c.1359+8_1359+13del (n.1359+8_1359+13del) | gnomAD v4 |
2 | g.26285580C>T | CA2658218258 | HADHB | c.1389+9C>T (n.1389+9C>T) c.1020+9C>T (n.1020+9C>T) n.2336+9C>T c.1344+9C>T (n.1344+9C>T) c.1323+9C>T (n.1323+9C>T) c.1359+9C>T (n.1359+9C>T) | gnomAD v4 |
2 | g.26285581A= | CA1239745884 | HADHB | c.1389+10A= (n.1389+10A=) c.1020+10A= (n.1020+10A=) n.2336+10A= c.1344+10A= (n.1344+10A=) c.1323+10A= (n.1323+10A=) c.1359+10A= (n.1359+10A=) | |
2 | g.26285581A>C | CA1239745885 | HADHB | c.1389+10A>C (n.1389+10A>C) c.1020+10A>C (n.1020+10A>C) n.2336+10A>C c.1344+10A>C (n.1344+10A>C) c.1323+10A>C (n.1323+10A>C) c.1359+10A>C (n.1359+10A>C) | ClinVar dbSNP gnomAD v4 |
2 | g.26285581A>G | CA2576697592 | HADHB | c.1389+10A>G (n.1389+10A>G) c.1020+10A>G (n.1020+10A>G) n.2336+10A>G c.1344+10A>G (n.1344+10A>G) c.1323+10A>G (n.1323+10A>G) c.1359+10A>G (n.1359+10A>G) | ClinVar gnomAD v4 |
2 | g.26285582G>A | CA2580066175 | HADHB | c.1389+11G>A (n.1389+11G>A) c.1020+11G>A (n.1020+11G>A) n.2336+11G>A c.1344+11G>A (n.1344+11G>A) c.1323+11G>A (n.1323+11G>A) c.1359+11G>A (n.1359+11G>A) | ClinVar |
2 | g.26285582G>T | CA2658218259 | HADHB | c.1389+11G>T (n.1389+11G>T) c.1020+11G>T (n.1020+11G>T) n.2336+11G>T c.1344+11G>T (n.1344+11G>T) c.1323+11G>T (n.1323+11G>T) c.1359+11G>T (n.1359+11G>T) | gnomAD v4 |
2 | g.26285584G>T | CA2841533427 | HADHB | c.1389+13G>T (n.1389+13G>T) c.1020+13G>T (n.1020+13G>T) n.2336+13G>T c.1344+13G>T (n.1344+13G>T) c.1323+13G>T (n.1323+13G>T) c.1359+13G>T (n.1359+13G>T) | |
2 | g.26285585del | CA2658218260 | HADHB | c.1389+14del (n.1389+14del) c.1020+14del (n.1020+14del) n.2336+14del c.1344+14del (n.1344+14del) c.1323+14del (n.1323+14del) c.1359+14del (n.1359+14del) | gnomAD v4 |
2 | g.26285585G>A | CA2841533428 | HADHB | c.1389+14G>A (n.1389+14G>A) c.1020+14G>A (n.1020+14G>A) n.2336+14G>A c.1344+14G>A (n.1344+14G>A) c.1323+14G>A (n.1323+14G>A) c.1359+14G>A (n.1359+14G>A) | |
2 | g.26285587G>A | CA2658218261 | HADHB | c.1389+16G>A (n.1389+16G>A) c.1020+16G>A (n.1020+16G>A) n.2336+16G>A c.1344+16G>A (n.1344+16G>A) c.1323+16G>A (n.1323+16G>A) c.1359+16G>A (n.1359+16G>A) | gnomAD v4 |
2 | g.26285589C>A | CA2658218262 | HADHB | c.1389+18C>A (n.1389+18C>A) c.1020+18C>A (n.1020+18C>A) n.2336+18C>A c.1344+18C>A (n.1344+18C>A) c.1323+18C>A (n.1323+18C>A) c.1359+18C>A (n.1359+18C>A) | gnomAD v4 |
2 | g.26285589C>T | CA2576697593 | HADHB | c.1389+18C>T (n.1389+18C>T) c.1020+18C>T (n.1020+18C>T) n.2336+18C>T c.1344+18C>T (n.1344+18C>T) c.1323+18C>T (n.1323+18C>T) c.1359+18C>T (n.1359+18C>T) | gnomAD v4 |
2 | g.26285590A= | CA1239745886 | HADHB | c.1389+19A= (n.1389+19A=) c.1020+19A= (n.1020+19A=) n.2336+19A= c.1344+19A= (n.1344+19A=) c.1323+19A= (n.1323+19A=) c.1359+19A= (n.1359+19A=) | |
2 | g.26285590A>G | CA1560528 | HADHB | c.1389+19A>G (n.1389+19A>G) c.1020+19A>G (n.1020+19A>G) n.2336+19A>G c.1344+19A>G (n.1344+19A>G) c.1323+19A>G (n.1323+19A>G) c.1359+19A>G (n.1359+19A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |