Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26285417C>A | CA346096226 | HADHB | c.1235C>A (p.Pro412His) c.866C>A (p.Pro289His) n.2182C>A c.1190C>A (p.Pro397His) c.1169C>A (p.Pro390His) c.1205C>A (p.Pro402His) | |
2 | g.26285417C= | CA1239745819 | HADHB | c.1235C= (p.Pro412=) c.866C= (p.Pro289=) n.2182C= c.1190C= (p.Pro397=) c.1169C= (p.Pro390=) c.1205C= (p.Pro402=) | |
2 | g.26285417C>G | CA346096227 | HADHB | c.1235C>G (p.Pro412Arg) c.866C>G (p.Pro289Arg) n.2182C>G c.1190C>G (p.Pro397Arg) c.1169C>G (p.Pro390Arg) c.1205C>G (p.Pro402Arg) | COSMIC |
2 | g.26285417C>T | CA1560502 | HADHB | c.1235C>T (p.Pro412Leu) c.866C>T (p.Pro289Leu) n.2182C>T c.1190C>T (p.Pro397Leu) c.1169C>T (p.Pro390Leu) c.1205C>T (p.Pro402Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285418T>A | CA425201976 | HADHB | c.1236T>A (p.Pro412=) c.867T>A (p.Pro289=) n.2183T>A c.1191T>A (p.Pro397=) c.1170T>A (p.Pro390=) c.1206T>A (p.Pro402=) | |
2 | g.26285418T>C | CA425201978 | HADHB | c.1236T>C (p.Pro412=) c.867T>C (p.Pro289=) n.2183T>C c.1191T>C (p.Pro397=) c.1170T>C (p.Pro390=) c.1206T>C (p.Pro402=) | |
2 | g.26285418T>G | CA425201977 | HADHB | c.1236T>G (p.Pro412=) c.867T>G (p.Pro289=) n.2183T>G c.1191T>G (p.Pro397=) c.1170T>G (p.Pro390=) c.1206T>G (p.Pro402=) | |
2 | g.26285419C>A | CA346096228 | HADHB | c.1237C>A (p.Pro413Thr) c.868C>A (p.Pro290Thr) n.2184C>A c.1192C>A (p.Pro398Thr) c.1171C>A (p.Pro391Thr) c.1207C>A (p.Pro403Thr) | |
2 | g.26285419C= | CA1239745820 | HADHB | c.1237C= (p.Pro413=) c.868C= (p.Pro290=) n.2184C= c.1192C= (p.Pro398=) c.1171C= (p.Pro391=) c.1207C= (p.Pro403=) | |
2 | g.26285419C>G | CA346096229 | HADHB | c.1237C>G (p.Pro413Ala) c.868C>G (p.Pro290Ala) n.2184C>G c.1192C>G (p.Pro398Ala) c.1171C>G (p.Pro391Ala) c.1207C>G (p.Pro403Ala) | |
2 | g.26285419C>T | CA346096230 | HADHB | c.1237C>T (p.Pro413Ser) c.868C>T (p.Pro290Ser) n.2184C>T c.1192C>T (p.Pro398Ser) c.1171C>T (p.Pro391Ser) c.1207C>T (p.Pro403Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.26285420C>A | CA346096231 | HADHB | c.1238C>A (p.Pro413His) c.869C>A (p.Pro290His) n.2185C>A c.1193C>A (p.Pro398His) c.1172C>A (p.Pro391His) c.1208C>A (p.Pro403His) | |
2 | g.26285420C>G | CA346096232 | HADHB | c.1238C>G (p.Pro413Arg) c.869C>G (p.Pro290Arg) n.2185C>G c.1193C>G (p.Pro398Arg) c.1172C>G (p.Pro391Arg) c.1208C>G (p.Pro403Arg) | |
2 | g.26285420C>T | CA346096233 | HADHB | c.1238C>T (p.Pro413Leu) c.869C>T (p.Pro290Leu) n.2185C>T c.1193C>T (p.Pro398Leu) c.1172C>T (p.Pro391Leu) c.1208C>T (p.Pro403Leu) | gnomAD v4 COSMIC |
2 | g.26285421T>A | CA425201979 | HADHB | c.1239T>A (p.Pro413=) c.870T>A (p.Pro290=) n.2186T>A c.1194T>A (p.Pro398=) c.1173T>A (p.Pro391=) c.1209T>A (p.Pro403=) | |
2 | g.26285421T>C | CA425201980 | HADHB | c.1239T>C (p.Pro413=) c.870T>C (p.Pro290=) n.2186T>C c.1194T>C (p.Pro398=) c.1173T>C (p.Pro391=) c.1209T>C (p.Pro403=) | |
2 | g.26285421T>G | CA425201981 | HADHB | c.1239T>G (p.Pro413=) c.870T>G (p.Pro290=) n.2186T>G c.1194T>G (p.Pro398=) c.1173T>G (p.Pro391=) c.1209T>G (p.Pro403=) | |
2 | g.26285423del | CA2658218250 | HADHB | c.1241del (p.Leu414TrpfsTer?) c.872del (p.Leu291TrpfsTer?) n.2188del c.1196del (p.Leu399TrpfsTer?) c.1175del (p.Leu392TrpfsTer?) c.1211del (p.Leu404TrpfsTer?) | gnomAD v4 |
2 | g.26285422T>A | CA346096235 | HADHB | c.1240T>A (p.Leu414Met) c.871T>A (p.Leu291Met) n.2187T>A c.1195T>A (p.Leu399Met) c.1174T>A (p.Leu392Met) c.1210T>A (p.Leu404Met) | |
2 | g.26285422T>C | CA425201982 | HADHB | c.1240T>C (p.Leu414=) c.871T>C (p.Leu291=) n.2187T>C c.1195T>C (p.Leu399=) c.1174T>C (p.Leu392=) c.1210T>C (p.Leu404=) | |
2 | g.26285422T>G | CA346096234 | HADHB | c.1240T>G (p.Leu414Val) c.871T>G (p.Leu291Val) n.2187T>G c.1195T>G (p.Leu399Val) c.1174T>G (p.Leu392Val) c.1210T>G (p.Leu404Val) | |
2 | g.26285423T>A | CA346096236 | HADHB | c.1241T>A (p.Leu414Ter) c.872T>A (p.Leu291Ter) n.2188T>A c.1196T>A (p.Leu399Ter) c.1175T>A (p.Leu392Ter) c.1211T>A (p.Leu404Ter) | |
2 | g.26285423T>C | CA346096237 | HADHB | c.1241T>C (p.Leu414Ser) c.872T>C (p.Leu291Ser) n.2188T>C c.1196T>C (p.Leu399Ser) c.1175T>C (p.Leu392Ser) c.1211T>C (p.Leu404Ser) | |
2 | g.26285423T>G | CA346096238 | HADHB | c.1241T>G (p.Leu414Trp) c.872T>G (p.Leu291Trp) n.2188T>G c.1196T>G (p.Leu399Trp) c.1175T>G (p.Leu392Trp) c.1211T>G (p.Leu404Trp) | |
2 | g.26285424G>A | CA425201983 | HADHB | c.1242G>A (p.Leu414=) c.873G>A (p.Leu291=) n.2189G>A c.1197G>A (p.Leu399=) c.1176G>A (p.Leu392=) c.1212G>A (p.Leu404=) | |
2 | g.26285424G>C | CA346096240 | HADHB | c.1242G>C (p.Leu414Phe) c.873G>C (p.Leu291Phe) n.2189G>C c.1197G>C (p.Leu399Phe) c.1176G>C (p.Leu392Phe) c.1212G>C (p.Leu404Phe) | |
2 | g.26285424G>T | CA346096241 | HADHB | c.1242G>T (p.Leu414Phe) c.873G>T (p.Leu291Phe) n.2189G>T c.1197G>T (p.Leu399Phe) c.1176G>T (p.Leu392Phe) c.1212G>T (p.Leu404Phe) | |
2 | g.26285425G>A | CA346096242 | HADHB | c.1243G>A (p.Glu415Lys) c.874G>A (p.Glu292Lys) n.2190G>A c.1198G>A (p.Glu400Lys) c.1177G>A (p.Glu393Lys) c.1213G>A (p.Glu405Lys) | gnomAD v4 |
2 | g.26285425G>C | CA346096243 | HADHB | c.1243G>C (p.Glu415Gln) c.874G>C (p.Glu292Gln) n.2190G>C c.1198G>C (p.Glu400Gln) c.1177G>C (p.Glu393Gln) c.1213G>C (p.Glu405Gln) | |
2 | g.26285425G>T | CA346096244 | HADHB | c.1243G>T (p.Glu415Ter) c.874G>T (p.Glu292Ter) n.2190G>T c.1198G>T (p.Glu400Ter) c.1177G>T (p.Glu393Ter) c.1213G>T (p.Glu405Ter) | |
2 | g.26285426A= | CA1239745821 | HADHB | c.1244A= (p.Glu415=) c.875A= (p.Glu292=) n.2191A= c.1199A= (p.Glu400=) c.1178A= (p.Glu393=) c.1214A= (p.Glu405=) | |
2 | g.26285426A>C | CA346096245 | HADHB | c.1244A>C (p.Glu415Ala) c.875A>C (p.Glu292Ala) n.2191A>C c.1199A>C (p.Glu400Ala) c.1178A>C (p.Glu393Ala) c.1214A>C (p.Glu405Ala) | |
2 | g.26285426A>G | CA44342832 | HADHB | c.1244A>G (p.Glu415Gly) c.875A>G (p.Glu292Gly) n.2191A>G c.1199A>G (p.Glu400Gly) c.1178A>G (p.Glu393Gly) c.1214A>G (p.Glu405Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.26285426A>T | CA346096246 | HADHB | c.1244A>T (p.Glu415Val) c.875A>T (p.Glu292Val) n.2191A>T c.1199A>T (p.Glu400Val) c.1178A>T (p.Glu393Val) c.1214A>T (p.Glu405Val) | |
2 | g.26285427G>A | CA425201984 | HADHB | c.1245G>A (p.Glu415=) c.876G>A (p.Glu292=) n.2192G>A c.1200G>A (p.Glu400=) c.1179G>A (p.Glu393=) c.1215G>A (p.Glu405=) | |
2 | g.26285427G>C | CA346096247 | HADHB | c.1245G>C (p.Glu415Asp) c.876G>C (p.Glu292Asp) n.2192G>C c.1200G>C (p.Glu400Asp) c.1179G>C (p.Glu393Asp) c.1215G>C (p.Glu405Asp) | |
2 | g.26285427G>T | CA346096248 | HADHB | c.1245G>T (p.Glu415Asp) c.876G>T (p.Glu292Asp) n.2192G>T c.1200G>T (p.Glu400Asp) c.1179G>T (p.Glu393Asp) c.1215G>T (p.Glu405Asp) | |
2 | g.26285428A>C | CA346096249 | HADHB | c.1246A>C (p.Lys416Gln) c.877A>C (p.Lys293Gln) n.2193A>C c.1201A>C (p.Lys401Gln) c.1180A>C (p.Lys394Gln) c.1216A>C (p.Lys406Gln) | |
2 | g.26285428A>G | CA346096251 | HADHB | c.1246A>G (p.Lys416Glu) c.877A>G (p.Lys293Glu) n.2193A>G c.1201A>G (p.Lys401Glu) c.1180A>G (p.Lys394Glu) c.1216A>G (p.Lys406Glu) | |
2 | g.26285428A>T | CA346096250 | HADHB | c.1246A>T (p.Lys416Ter) c.877A>T (p.Lys293Ter) n.2193A>T c.1201A>T (p.Lys401Ter) c.1180A>T (p.Lys394Ter) c.1216A>T (p.Lys406Ter) | |
2 | g.26285429A>C | CA346096252 | HADHB | c.1247A>C (p.Lys416Thr) c.878A>C (p.Lys293Thr) n.2194A>C c.1202A>C (p.Lys401Thr) c.1181A>C (p.Lys394Thr) c.1217A>C (p.Lys406Thr) | |
2 | g.26285429A>G | CA346096253 | HADHB | c.1247A>G (p.Lys416Arg) c.878A>G (p.Lys293Arg) n.2194A>G c.1202A>G (p.Lys401Arg) c.1181A>G (p.Lys394Arg) c.1217A>G (p.Lys406Arg) | gnomAD v4 |
2 | g.26285429A>T | CA346096254 | HADHB | c.1247A>T (p.Lys416Met) c.878A>T (p.Lys293Met) n.2194A>T c.1202A>T (p.Lys401Met) c.1181A>T (p.Lys394Met) c.1217A>T (p.Lys406Met) | |
2 | g.26285430G>A | CA425201985 | HADHB | c.1248G>A (p.Lys416=) c.879G>A (p.Lys293=) n.2195G>A c.1203G>A (p.Lys401=) c.1182G>A (p.Lys394=) c.1218G>A (p.Lys406=) | gnomAD v4 |
2 | g.26285430G>C | CA346096255 | HADHB | c.1248G>C (p.Lys416Asn) c.879G>C (p.Lys293Asn) n.2195G>C c.1203G>C (p.Lys401Asn) c.1182G>C (p.Lys394Asn) c.1218G>C (p.Lys406Asn) | |
2 | g.26285430G>T | CA346096256 | HADHB | c.1248G>T (p.Lys416Asn) c.879G>T (p.Lys293Asn) n.2195G>T c.1203G>T (p.Lys401Asn) c.1182G>T (p.Lys394Asn) c.1218G>T (p.Lys406Asn) | gnomAD v4 |
2 | g.26285431T>A | CA346096257 | HADHB | c.1249T>A (p.Phe417Ile) c.880T>A (p.Phe294Ile) n.2196T>A c.1204T>A (p.Phe402Ile) c.1183T>A (p.Phe395Ile) c.1219T>A (p.Phe407Ile) | |
2 | g.26285431T>C | CA346096258 | HADHB | c.1249T>C (p.Phe417Leu) c.880T>C (p.Phe294Leu) n.2196T>C c.1204T>C (p.Phe402Leu) c.1183T>C (p.Phe395Leu) c.1219T>C (p.Phe407Leu) | dbSNP |
2 | g.26285431T>G | CA346096259 | HADHB | c.1249T>G (p.Phe417Val) c.880T>G (p.Phe294Val) n.2196T>G c.1204T>G (p.Phe402Val) c.1183T>G (p.Phe395Val) c.1219T>G (p.Phe407Val) | |
2 | g.26285432T>A | CA346096260 | HADHB | c.1250T>A (p.Phe417Tyr) c.881T>A (p.Phe294Tyr) n.2197T>A c.1205T>A (p.Phe402Tyr) c.1184T>A (p.Phe395Tyr) c.1220T>A (p.Phe407Tyr) | |
2 | g.26285432T>C | CA346096261 | HADHB | c.1250T>C (p.Phe417Ser) c.881T>C (p.Phe294Ser) n.2197T>C c.1205T>C (p.Phe402Ser) c.1184T>C (p.Phe395Ser) c.1220T>C (p.Phe407Ser) | |
2 | g.26285432T>G | CA346096262 | HADHB | c.1250T>G (p.Phe417Cys) c.881T>G (p.Phe294Cys) n.2197T>G c.1205T>G (p.Phe402Cys) c.1184T>G (p.Phe395Cys) c.1220T>G (p.Phe407Cys) | |
2 | g.26285433T>A | CA346096263 | HADHB | c.1251T>A (p.Phe417Leu) c.882T>A (p.Phe294Leu) n.2198T>A c.1206T>A (p.Phe402Leu) c.1185T>A (p.Phe395Leu) c.1221T>A (p.Phe407Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285433T>C | CA425201986 | HADHB | c.1251T>C (p.Phe417=) c.882T>C (p.Phe294=) n.2198T>C c.1206T>C (p.Phe402=) c.1185T>C (p.Phe395=) c.1221T>C (p.Phe407=) | |
2 | g.26285433T>G | CA1560503 | HADHB | c.1251T>G (p.Phe417Leu) c.882T>G (p.Phe294Leu) n.2198T>G c.1206T>G (p.Phe402Leu) c.1185T>G (p.Phe395Leu) c.1221T>G (p.Phe407Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285433T= | CA1239745822 | HADHB | c.1251T= (p.Phe417=) c.882T= (p.Phe294=) n.2198T= c.1206T= (p.Phe402=) c.1185T= (p.Phe395=) c.1221T= (p.Phe407=) | |
2 | g.26285434A>C | CA346096264 | HADHB | c.1252A>C (p.Asn418His) c.883A>C (p.Asn295His) n.2199A>C c.1207A>C (p.Asn403His) c.1186A>C (p.Asn396His) c.1222A>C (p.Asn408His) | |
2 | g.26285434A>G | CA346096266 | HADHB | c.1252A>G (p.Asn418Asp) c.883A>G (p.Asn295Asp) n.2199A>G c.1207A>G (p.Asn403Asp) c.1186A>G (p.Asn396Asp) c.1222A>G (p.Asn408Asp) | ClinVar |
2 | g.26285434A>T | CA346096265 | HADHB | c.1252A>T (p.Asn418Tyr) c.883A>T (p.Asn295Tyr) n.2199A>T c.1207A>T (p.Asn403Tyr) c.1186A>T (p.Asn396Tyr) c.1222A>T (p.Asn408Tyr) | |
2 | g.26285435A>C | CA346096267 | HADHB | c.1253A>C (p.Asn418Thr) c.884A>C (p.Asn295Thr) n.2200A>C c.1208A>C (p.Asn403Thr) c.1187A>C (p.Asn396Thr) c.1223A>C (p.Asn408Thr) | |
2 | g.26285435A>G | CA346096268 | HADHB | c.1253A>G (p.Asn418Ser) c.884A>G (p.Asn295Ser) n.2200A>G c.1208A>G (p.Asn403Ser) c.1187A>G (p.Asn396Ser) c.1223A>G (p.Asn408Ser) | |
2 | g.26285435A>T | CA346096269 | HADHB | c.1253A>T (p.Asn418Ile) c.884A>T (p.Asn295Ile) n.2200A>T c.1208A>T (p.Asn403Ile) c.1187A>T (p.Asn396Ile) c.1223A>T (p.Asn408Ile) | |
2 | g.26285436T>A | CA346096270 | HADHB | c.1254T>A (p.Asn418Lys) c.885T>A (p.Asn295Lys) n.2201T>A c.1209T>A (p.Asn403Lys) c.1188T>A (p.Asn396Lys) c.1224T>A (p.Asn408Lys) | |
2 | g.26285436T>C | CA425201987 | HADHB | c.1254T>C (p.Asn418=) c.885T>C (p.Asn295=) n.2201T>C c.1209T>C (p.Asn403=) c.1188T>C (p.Asn396=) c.1224T>C (p.Asn408=) | ClinVar |
2 | g.26285436T>G | CA346096271 | HADHB | c.1254T>G (p.Asn418Lys) c.885T>G (p.Asn295Lys) n.2201T>G c.1209T>G (p.Asn403Lys) c.1188T>G (p.Asn396Lys) c.1224T>G (p.Asn408Lys) | |
2 | g.26285437A>C | CA346096272 | HADHB | c.1255A>C (p.Asn419His) c.886A>C (p.Asn296His) n.2202A>C c.1210A>C (p.Asn404His) c.1189A>C (p.Asn397His) c.1225A>C (p.Asn409His) | |
2 | g.26285437A>G | CA346096273 | HADHB | c.1255A>G (p.Asn419Asp) c.886A>G (p.Asn296Asp) n.2202A>G c.1210A>G (p.Asn404Asp) c.1189A>G (p.Asn397Asp) c.1225A>G (p.Asn409Asp) | |
2 | g.26285437A>T | CA346096274 | HADHB | c.1255A>T (p.Asn419Tyr) c.886A>T (p.Asn296Tyr) n.2202A>T c.1210A>T (p.Asn404Tyr) c.1189A>T (p.Asn397Tyr) c.1225A>T (p.Asn409Tyr) | |
2 | g.26285438A>C | CA346096275 | HADHB | c.1256A>C (p.Asn419Thr) c.887A>C (p.Asn296Thr) n.2203A>C c.1211A>C (p.Asn404Thr) c.1190A>C (p.Asn397Thr) c.1226A>C (p.Asn409Thr) | |
2 | g.26285438A>G | CA346096276 | HADHB | c.1256A>G (p.Asn419Ser) c.887A>G (p.Asn296Ser) n.2203A>G c.1211A>G (p.Asn404Ser) c.1190A>G (p.Asn397Ser) c.1226A>G (p.Asn409Ser) | |
2 | g.26285438A>T | CA346096277 | HADHB | c.1256A>T (p.Asn419Ile) c.887A>T (p.Asn296Ile) n.2203A>T c.1211A>T (p.Asn404Ile) c.1190A>T (p.Asn397Ile) c.1226A>T (p.Asn409Ile) | |
2 | g.26285439C>A | CA346096279 | HADHB | c.1257C>A (p.Asn419Lys) c.888C>A (p.Asn296Lys) n.2204C>A c.1212C>A (p.Asn404Lys) c.1191C>A (p.Asn397Lys) c.1227C>A (p.Asn409Lys) | |
2 | g.26285439C>G | CA346096278 | HADHB | c.1257C>G (p.Asn419Lys) c.888C>G (p.Asn296Lys) n.2204C>G c.1212C>G (p.Asn404Lys) c.1191C>G (p.Asn397Lys) c.1227C>G (p.Asn409Lys) | |
2 | g.26285439C>T | CA425201989 | HADHB | c.1257C>T (p.Asn419=) c.888C>T (p.Asn296=) n.2204C>T c.1212C>T (p.Asn404=) c.1191C>T (p.Asn397=) c.1227C>T (p.Asn409=) | |
2 | g.26285439_26285441delinsCTG | CA1239745823 | HADHB | c.1257_1259delinsCTG (p.Asn419=) c.888_890delinsCTG (p.Asn296=) n.2204_2206delinsCTG c.1212_1214delinsCTG (p.Asn404=) c.1191_1193delinsCTG (p.Asn397=) c.1227_1229delinsCTG (p.Asn409=) | |
2 | g.26285440T>A | CA346096280 | HADHB | c.1258T>A (p.Trp420Arg) c.889T>A (p.Trp297Arg) n.2205T>A c.1213T>A (p.Trp405Arg) c.1192T>A (p.Trp398Arg) c.1228T>A (p.Trp410Arg) | |
2 | g.26285440T>C | CA346096281 | HADHB | c.1258T>C (p.Trp420Arg) c.889T>C (p.Trp297Arg) n.2205T>C c.1213T>C (p.Trp405Arg) c.1192T>C (p.Trp398Arg) c.1228T>C (p.Trp410Arg) | |
2 | g.26285440T>G | CA346096282 | HADHB | c.1258T>G (p.Trp420Gly) c.889T>G (p.Trp297Gly) n.2205T>G c.1213T>G (p.Trp405Gly) c.1192T>G (p.Trp398Gly) c.1228T>G (p.Trp410Gly) | ClinVar dbSNP |
2 | g.26285440T= | CA1239745824 | HADHB | c.1258T= (p.Trp420=) c.889T= (p.Trp297=) n.2205T= c.1213T= (p.Trp405=) c.1192T= (p.Trp398=) c.1228T= (p.Trp410=) | |
2 | g.26285440_26285441del | CA1560504 | HADHB | c.1258_1259del (p.Trp420GlyfsTer?) c.889_890del (p.Trp297GlyfsTer?) n.2205_2206del c.1213_1214del (p.Trp405GlyfsTer?) c.1192_1193del (p.Trp398GlyfsTer?) c.1228_1229del (p.Trp410GlyfsTer?) | dbSNP ExAC gnomAD v2 |
2 | g.26285441G>A | CA346096284 | HADHB | c.1259G>A (p.Trp420Ter) c.890G>A (p.Trp297Ter) n.2206G>A c.1214G>A (p.Trp405Ter) c.1193G>A (p.Trp398Ter) c.1229G>A (p.Trp410Ter) | gnomAD v4 |
2 | g.26285441G>C | CA346096283 | HADHB | c.1259G>C (p.Trp420Ser) c.890G>C (p.Trp297Ser) n.2206G>C c.1214G>C (p.Trp405Ser) c.1193G>C (p.Trp398Ser) c.1229G>C (p.Trp410Ser) | |
2 | g.26285441G>T | CA346096286 | HADHB | c.1259G>T (p.Trp420Leu) c.890G>T (p.Trp297Leu) n.2206G>T c.1214G>T (p.Trp405Leu) c.1193G>T (p.Trp398Leu) c.1229G>T (p.Trp410Leu) | |
2 | g.26285443_26285444del | CA346096285 | HADHB | c.1261_1262del (p.Gly421TrpfsTer?) c.892_893del (p.Gly298TrpfsTer?) n.2208_2209del c.1216_1217del (p.Gly406TrpfsTer?) c.1195_1196del (p.Gly399TrpfsTer?) c.1231_1232del (p.Gly411TrpfsTer?) | |
2 | g.26285442G>A | CA346096287 | HADHB | c.1260G>A (p.Trp420Ter) c.891G>A (p.Trp297Ter) n.2207G>A c.1215G>A (p.Trp405Ter) c.1194G>A (p.Trp398Ter) c.1230G>A (p.Trp410Ter) | |
2 | g.26285442G>C | CA346096289 | HADHB | c.1260G>C (p.Trp420Cys) c.891G>C (p.Trp297Cys) n.2207G>C c.1215G>C (p.Trp405Cys) c.1194G>C (p.Trp398Cys) c.1230G>C (p.Trp410Cys) | |
2 | g.26285442G>T | CA346096288 | HADHB | c.1260G>T (p.Trp420Cys) c.891G>T (p.Trp297Cys) n.2207G>T c.1215G>T (p.Trp405Cys) c.1194G>T (p.Trp398Cys) c.1230G>T (p.Trp410Cys) | |
2 | g.26285443G>A | CA346096732 | HADHB | c.1261G>A (p.Gly421Ser) c.892G>A (p.Gly298Ser) n.2208G>A c.1216G>A (p.Gly406Ser) c.1195G>A (p.Gly399Ser) c.1231G>A (p.Gly411Ser) | |
2 | g.26285443G>C | CA346096733 | HADHB | c.1261G>C (p.Gly421Arg) c.892G>C (p.Gly298Arg) n.2208G>C c.1216G>C (p.Gly406Arg) c.1195G>C (p.Gly399Arg) c.1231G>C (p.Gly411Arg) | |
2 | g.26285443G>T | CA346096734 | HADHB | c.1261G>T (p.Gly421Cys) c.892G>T (p.Gly298Cys) n.2208G>T c.1216G>T (p.Gly406Cys) c.1195G>T (p.Gly399Cys) c.1231G>T (p.Gly411Cys) | |
2 | g.26285444G>A | CA346096735 | HADHB | c.1262G>A (p.Gly421Asp) c.893G>A (p.Gly298Asp) n.2209G>A c.1217G>A (p.Gly406Asp) c.1196G>A (p.Gly399Asp) c.1232G>A (p.Gly411Asp) | |
2 | g.26285444G>C | CA346096736 | HADHB | c.1262G>C (p.Gly421Ala) c.893G>C (p.Gly298Ala) n.2209G>C c.1217G>C (p.Gly406Ala) c.1196G>C (p.Gly399Ala) c.1232G>C (p.Gly411Ala) | |
2 | g.26285444G>T | CA346096737 | HADHB | c.1262G>T (p.Gly421Val) c.893G>T (p.Gly298Val) n.2209G>T c.1217G>T (p.Gly406Val) c.1196G>T (p.Gly399Val) c.1232G>T (p.Gly411Val) | |
2 | g.26285445T>A | CA425202016 | HADHB | c.1263T>A (p.Gly421=) c.894T>A (p.Gly298=) n.2210T>A c.1218T>A (p.Gly406=) c.1197T>A (p.Gly399=) c.1233T>A (p.Gly411=) | |
2 | g.26285445T>C | CA425202018 | HADHB | c.1263T>C (p.Gly421=) c.894T>C (p.Gly298=) n.2210T>C c.1218T>C (p.Gly406=) c.1197T>C (p.Gly399=) c.1233T>C (p.Gly411=) | |
2 | g.26285445T>G | CA425202021 | HADHB | c.1263T>G (p.Gly421=) c.894T>G (p.Gly298=) n.2210T>G c.1218T>G (p.Gly406=) c.1197T>G (p.Gly399=) c.1233T>G (p.Gly411=) | |
2 | g.26285446G>A | CA346096738 | HADHB | c.1264G>A (p.Gly422Arg) c.895G>A (p.Gly299Arg) n.2211G>A c.1219G>A (p.Gly407Arg) c.1198G>A (p.Gly400Arg) c.1234G>A (p.Gly412Arg) | |
2 | g.26285446G>C | CA346096739 | HADHB | c.1264G>C (p.Gly422Arg) c.895G>C (p.Gly299Arg) n.2211G>C c.1219G>C (p.Gly407Arg) c.1198G>C (p.Gly400Arg) c.1234G>C (p.Gly412Arg) | |
2 | g.26285446G>T | CA346096740 | HADHB | c.1264G>T (p.Gly422Ter) c.895G>T (p.Gly299Ter) n.2211G>T c.1219G>T (p.Gly407Ter) c.1198G>T (p.Gly400Ter) c.1234G>T (p.Gly412Ter) | |
2 | g.26285447G>A | CA346096741 | HADHB | c.1265G>A (p.Gly422Glu) c.896G>A (p.Gly299Glu) n.2212G>A c.1220G>A (p.Gly407Glu) c.1199G>A (p.Gly400Glu) c.1235G>A (p.Gly412Glu) | |
2 | g.26285447G>C | CA346096742 | HADHB | c.1265G>C (p.Gly422Ala) c.896G>C (p.Gly299Ala) n.2212G>C c.1220G>C (p.Gly407Ala) c.1199G>C (p.Gly400Ala) c.1235G>C (p.Gly412Ala) | gnomAD v4 |
2 | g.26285447G>T | CA346096743 | HADHB | c.1265G>T (p.Gly422Val) c.896G>T (p.Gly299Val) n.2212G>T c.1220G>T (p.Gly407Val) c.1199G>T (p.Gly400Val) c.1235G>T (p.Gly412Val) | |
2 | g.26285448A>C | CA425202023 | HADHB | c.1266A>C (p.Gly422=) c.897A>C (p.Gly299=) n.2213A>C c.1221A>C (p.Gly407=) c.1200A>C (p.Gly400=) c.1236A>C (p.Gly412=) | |
2 | g.26285448A>G | CA425202024 | HADHB | c.1266A>G (p.Gly422=) c.897A>G (p.Gly299=) n.2213A>G c.1221A>G (p.Gly407=) c.1200A>G (p.Gly400=) c.1236A>G (p.Gly412=) | |
2 | g.26285448A>T | CA425202025 | HADHB | c.1266A>T (p.Gly422=) c.897A>T (p.Gly299=) n.2213A>T c.1221A>T (p.Gly407=) c.1200A>T (p.Gly400=) c.1236A>T (p.Gly412=) | |
2 | g.26285449T>A | CA346096744 | HADHB | c.1267T>A (p.Ser423Thr) c.898T>A (p.Ser300Thr) n.2214T>A c.1222T>A (p.Ser408Thr) c.1201T>A (p.Ser401Thr) c.1237T>A (p.Ser413Thr) | |
2 | g.26285449T>C | CA346096746 | HADHB | c.1267T>C (p.Ser423Pro) c.898T>C (p.Ser300Pro) n.2214T>C c.1222T>C (p.Ser408Pro) c.1201T>C (p.Ser401Pro) c.1237T>C (p.Ser413Pro) | |
2 | g.26285449T>G | CA346096745 | HADHB | c.1267T>G (p.Ser423Ala) c.898T>G (p.Ser300Ala) n.2214T>G c.1222T>G (p.Ser408Ala) c.1201T>G (p.Ser401Ala) c.1237T>G (p.Ser413Ala) | |
2 | g.26285450C>A | CA346096747 | HADHB | c.1268C>A (p.Ser423Tyr) c.899C>A (p.Ser300Tyr) n.2215C>A c.1223C>A (p.Ser408Tyr) c.1202C>A (p.Ser401Tyr) c.1238C>A (p.Ser413Tyr) | |
2 | g.26285450C>G | CA346096748 | HADHB | c.1268C>G (p.Ser423Cys) c.899C>G (p.Ser300Cys) n.2215C>G c.1223C>G (p.Ser408Cys) c.1202C>G (p.Ser401Cys) c.1238C>G (p.Ser413Cys) | |
2 | g.26285450C>T | CA346096749 | HADHB | c.1268C>T (p.Ser423Phe) c.899C>T (p.Ser300Phe) n.2215C>T c.1223C>T (p.Ser408Phe) c.1202C>T (p.Ser401Phe) c.1238C>T (p.Ser413Phe) | |
2 | g.26285451T>A | CA425202030 | HADHB | c.1269T>A (p.Ser423=) c.900T>A (p.Ser300=) n.2216T>A c.1224T>A (p.Ser408=) c.1203T>A (p.Ser401=) c.1239T>A (p.Ser413=) | |
2 | g.26285451T>C | CA425202031 | HADHB | c.1269T>C (p.Ser423=) c.900T>C (p.Ser300=) n.2216T>C c.1224T>C (p.Ser408=) c.1203T>C (p.Ser401=) c.1239T>C (p.Ser413=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285451T>G | CA425202032 | HADHB | c.1269T>G (p.Ser423=) c.900T>G (p.Ser300=) n.2216T>G c.1224T>G (p.Ser408=) c.1203T>G (p.Ser401=) c.1239T>G (p.Ser413=) | |
2 | g.26285451T= | CA1239745825 | HADHB | c.1269T= (p.Ser423=) c.900T= (p.Ser300=) n.2216T= c.1224T= (p.Ser408=) c.1203T= (p.Ser401=) c.1239T= (p.Ser413=) | |
2 | g.26285452C>A | CA346096750 | HADHB | c.1270C>A (p.Leu424Met) c.901C>A (p.Leu301Met) n.2217C>A c.1225C>A (p.Leu409Met) c.1204C>A (p.Leu402Met) c.1240C>A (p.Leu414Met) | |
2 | g.26285452C= | CA1239745826 | HADHB | c.1270C= (p.Leu424=) c.901C= (p.Leu301=) n.2217C= c.1225C= (p.Leu409=) c.1204C= (p.Leu402=) c.1240C= (p.Leu414=) | |
2 | g.26285452C>G | CA346096751 | HADHB | c.1270C>G (p.Leu424Val) c.901C>G (p.Leu301Val) n.2217C>G c.1225C>G (p.Leu409Val) c.1204C>G (p.Leu402Val) c.1240C>G (p.Leu414Val) | dbSNP |
2 | g.26285452C>T | CA425202036 | HADHB | c.1270C>T (p.Leu424=) c.901C>T (p.Leu301=) n.2217C>T c.1225C>T (p.Leu409=) c.1204C>T (p.Leu402=) c.1240C>T (p.Leu414=) | |
2 | g.26285453T>A | CA346096752 | HADHB | c.1271T>A (p.Leu424Gln) c.902T>A (p.Leu301Gln) n.2218T>A c.1226T>A (p.Leu409Gln) c.1205T>A (p.Leu402Gln) c.1241T>A (p.Leu414Gln) | |
2 | g.26285453T>C | CA346096753 | HADHB | c.1271T>C (p.Leu424Pro) c.902T>C (p.Leu301Pro) n.2218T>C c.1226T>C (p.Leu409Pro) c.1205T>C (p.Leu402Pro) c.1241T>C (p.Leu414Pro) | gnomAD v4 |
2 | g.26285453T>G | CA346096754 | HADHB | c.1271T>G (p.Leu424Arg) c.902T>G (p.Leu301Arg) n.2218T>G c.1226T>G (p.Leu409Arg) c.1205T>G (p.Leu402Arg) c.1241T>G (p.Leu414Arg) | |
2 | g.26285453_26285454delinsTG | CA1239745827 | HADHB | c.1271_1272delinsTG (p.Leu424=) c.902_903delinsTG (p.Leu301=) n.2218_2219delinsTG c.1226_1227delinsTG (p.Leu409=) c.1205_1206delinsTG (p.Leu402=) c.1241_1242delinsTG (p.Leu414=) | |
2 | g.26285454del | CA767291722 | HADHB | c.1272del (p.Ser425ProfsTer?) c.903del (p.Ser302ProfsTer?) n.2219del c.1227del (p.Ser410ProfsTer?) c.1206del (p.Ser403ProfsTer?) c.1242del (p.Ser415ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285454G>A | CA425202037 | HADHB | c.1272G>A (p.Leu424=) c.903G>A (p.Leu301=) n.2219G>A c.1227G>A (p.Leu409=) c.1206G>A (p.Leu402=) c.1242G>A (p.Leu414=) | |
2 | g.26285454G>C | CA425202039 | HADHB | c.1272G>C (p.Leu424=) c.903G>C (p.Leu301=) n.2219G>C c.1227G>C (p.Leu409=) c.1206G>C (p.Leu402=) c.1242G>C (p.Leu414=) | |
2 | g.26285454G>T | CA425202041 | HADHB | c.1272G>T (p.Leu424=) c.903G>T (p.Leu301=) n.2219G>T c.1227G>T (p.Leu409=) c.1206G>T (p.Leu402=) c.1242G>T (p.Leu414=) | |
2 | g.26285455T>A | CA346096757 | HADHB | c.1273T>A (p.Ser425Thr) c.904T>A (p.Ser302Thr) n.2220T>A c.1228T>A (p.Ser410Thr) c.1207T>A (p.Ser403Thr) c.1243T>A (p.Ser415Thr) | |
2 | g.26285455T>C | CA346096756 | HADHB | c.1273T>C (p.Ser425Pro) c.904T>C (p.Ser302Pro) n.2220T>C c.1228T>C (p.Ser410Pro) c.1207T>C (p.Ser403Pro) c.1243T>C (p.Ser415Pro) | |
2 | g.26285455T>G | CA346096755 | HADHB | c.1273T>G (p.Ser425Ala) c.904T>G (p.Ser302Ala) n.2220T>G c.1228T>G (p.Ser410Ala) c.1207T>G (p.Ser403Ala) c.1243T>G (p.Ser415Ala) | |
2 | g.26285456C>A | CA346096758 | HADHB | c.1274C>A (p.Ser425Tyr) c.905C>A (p.Ser302Tyr) n.2221C>A c.1229C>A (p.Ser410Tyr) c.1208C>A (p.Ser403Tyr) c.1244C>A (p.Ser415Tyr) | |
2 | g.26285456C= | CA1239745828 | HADHB | c.1274C= (p.Ser425=) c.905C= (p.Ser302=) n.2221C= c.1229C= (p.Ser410=) c.1208C= (p.Ser403=) c.1244C= (p.Ser415=) | |
2 | g.26285456C>G | CA346096759 | HADHB | c.1274C>G (p.Ser425Cys) c.905C>G (p.Ser302Cys) n.2221C>G c.1229C>G (p.Ser410Cys) c.1208C>G (p.Ser403Cys) c.1244C>G (p.Ser415Cys) | |
2 | g.26285456C>T | CA346096760 | HADHB | c.1274C>T (p.Ser425Phe) c.905C>T (p.Ser302Phe) n.2221C>T c.1229C>T (p.Ser410Phe) c.1208C>T (p.Ser403Phe) c.1244C>T (p.Ser415Phe) | dbSNP gnomAD v2 COSMIC COSMIC |
2 | g.26285457C>A | CA425202044 | HADHB | c.1275C>A (p.Ser425=) c.906C>A (p.Ser302=) n.2222C>A c.1230C>A (p.Ser410=) c.1209C>A (p.Ser403=) c.1245C>A (p.Ser415=) | |
2 | g.26285457C>G | CA425202045 | HADHB | c.1275C>G (p.Ser425=) c.906C>G (p.Ser302=) n.2222C>G c.1230C>G (p.Ser410=) c.1209C>G (p.Ser403=) c.1245C>G (p.Ser415=) | |
2 | g.26285457C>T | CA425202047 | HADHB | c.1275C>T (p.Ser425=) c.906C>T (p.Ser302=) n.2222C>T c.1230C>T (p.Ser410=) c.1209C>T (p.Ser403=) c.1245C>T (p.Ser415=) | gnomAD v4 COSMIC COSMIC |
2 | g.26285458C>A | CA346096761 | HADHB | c.1276C>A (p.Leu426Met) c.907C>A (p.Leu303Met) n.2223C>A c.1231C>A (p.Leu411Met) c.1210C>A (p.Leu404Met) c.1246C>A (p.Leu416Met) | |
2 | g.26285458C= | CA1239745829 | HADHB | c.1276C= (p.Leu426=) c.907C= (p.Leu303=) n.2223C= c.1231C= (p.Leu411=) c.1210C= (p.Leu404=) c.1246C= (p.Leu416=) | |
2 | g.26285458C>G | CA346096762 | HADHB | c.1276C>G (p.Leu426Val) c.907C>G (p.Leu303Val) n.2223C>G c.1231C>G (p.Leu411Val) c.1210C>G (p.Leu404Val) c.1246C>G (p.Leu416Val) | |
2 | g.26285458C>T | CA425202051 | HADHB | c.1276C>T (p.Leu426=) c.907C>T (p.Leu303=) n.2223C>T c.1231C>T (p.Leu411=) c.1210C>T (p.Leu404=) c.1246C>T (p.Leu416=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285459T>A | CA346096763 | HADHB | c.1277T>A (p.Leu426Gln) c.908T>A (p.Leu303Gln) n.2224T>A c.1232T>A (p.Leu411Gln) c.1211T>A (p.Leu404Gln) c.1247T>A (p.Leu416Gln) | |
2 | g.26285459T>C | CA346096764 | HADHB | c.1277T>C (p.Leu426Pro) c.908T>C (p.Leu303Pro) n.2224T>C c.1232T>C (p.Leu411Pro) c.1211T>C (p.Leu404Pro) c.1247T>C (p.Leu416Pro) | |
2 | g.26285459T>G | CA346096765 | HADHB | c.1277T>G (p.Leu426Arg) c.908T>G (p.Leu303Arg) n.2224T>G c.1232T>G (p.Leu411Arg) c.1211T>G (p.Leu404Arg) c.1247T>G (p.Leu416Arg) | |
2 | g.26285459_26285460delinsTG | CA1239745830 | HADHB | c.1277_1278delinsTG (p.Leu426=) c.908_909delinsTG (p.Leu303=) n.2224_2225delinsTG c.1232_1233delinsTG (p.Leu411=) c.1211_1212delinsTG (p.Leu404=) c.1247_1248delinsTG (p.Leu416=) | |
2 | g.26285460G>A | CA425202054 | HADHB | c.1278G>A (p.Leu426=) c.909G>A (p.Leu303=) n.2225G>A c.1233G>A (p.Leu411=) c.1212G>A (p.Leu404=) c.1248G>A (p.Leu416=) | |
2 | g.26285460G>C | CA425202055 | HADHB | c.1278G>C (p.Leu426=) c.909G>C (p.Leu303=) n.2225G>C c.1233G>C (p.Leu411=) c.1212G>C (p.Leu404=) c.1248G>C (p.Leu416=) | |
2 | g.26285460G>T | CA425202056 | HADHB | c.1278G>T (p.Leu426=) c.909G>T (p.Leu303=) n.2225G>T c.1233G>T (p.Leu411=) c.1212G>T (p.Leu404=) c.1248G>T (p.Leu416=) | |
2 | g.26285462del | CA1560505 | HADHB | c.1280del (p.Gly427AspfsTer28) c.911del (p.Gly304AspfsTer28) n.2227del c.1235del (p.Gly412AspfsTer28) c.1214del (p.Gly405AspfsTer28) c.1250del (p.Gly417AspfsTer28) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285461G>A | CA346096766 | HADHB | c.1279G>A (p.Gly427Arg) c.910G>A (p.Gly304Arg) n.2226G>A c.1234G>A (p.Gly412Arg) c.1213G>A (p.Gly405Arg) c.1249G>A (p.Gly417Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285461G>C | CA346096767 | HADHB | c.1279G>C (p.Gly427Arg) c.910G>C (p.Gly304Arg) n.2226G>C c.1234G>C (p.Gly412Arg) c.1213G>C (p.Gly405Arg) c.1249G>C (p.Gly417Arg) | |
2 | g.26285461G= | CA1239745831 | HADHB | c.1279G= (p.Gly427=) c.910G= (p.Gly304=) n.2226G= c.1234G= (p.Gly412=) c.1213G= (p.Gly405=) c.1249G= (p.Gly417=) | |
2 | g.26285461G>T | CA346096768 | HADHB | c.1279G>T (p.Gly427Ter) c.910G>T (p.Gly304Ter) n.2226G>T c.1234G>T (p.Gly412Ter) c.1213G>T (p.Gly405Ter) c.1249G>T (p.Gly417Ter) | ClinVar COSMIC |
2 | g.26285462G>A | CA220470 | HADHB | c.1280G>A (p.Gly427Glu) c.911G>A (p.Gly304Glu) n.2227G>A c.1235G>A (p.Gly412Glu) c.1214G>A (p.Gly405Glu) c.1250G>A (p.Gly417Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285462G>C | CA346096769 | HADHB | c.1280G>C (p.Gly427Ala) c.911G>C (p.Gly304Ala) n.2227G>C c.1235G>C (p.Gly412Ala) c.1214G>C (p.Gly405Ala) c.1250G>C (p.Gly417Ala) | |
2 | g.26285462G= | CA1239745832 | HADHB | c.1280G= (p.Gly427=) c.911G= (p.Gly304=) n.2227G= c.1235G= (p.Gly412=) c.1214G= (p.Gly405=) c.1250G= (p.Gly417=) | |
2 | g.26285462G>T | CA346096770 | HADHB | c.1280G>T (p.Gly427Val) c.911G>T (p.Gly304Val) n.2227G>T c.1235G>T (p.Gly412Val) c.1214G>T (p.Gly405Val) c.1250G>T (p.Gly417Val) | |
2 | g.26285463A>C | CA425202058 | HADHB | c.1281A>C (p.Gly427=) c.912A>C (p.Gly304=) n.2228A>C c.1236A>C (p.Gly412=) c.1215A>C (p.Gly405=) c.1251A>C (p.Gly417=) | |
2 | g.26285463A>G | CA425202060 | HADHB | c.1281A>G (p.Gly427=) c.912A>G (p.Gly304=) n.2228A>G c.1236A>G (p.Gly412=) c.1215A>G (p.Gly405=) c.1251A>G (p.Gly417=) | |
2 | g.26285463A>T | CA425202063 | HADHB | c.1281A>T (p.Gly427=) c.912A>T (p.Gly304=) n.2228A>T c.1236A>T (p.Gly412=) c.1215A>T (p.Gly405=) c.1251A>T (p.Gly417=) | |
2 | g.26285464C>A | CA346096771 | HADHB | c.1282C>A (p.His428Asn) c.913C>A (p.His305Asn) n.2229C>A c.1237C>A (p.His413Asn) c.1216C>A (p.His406Asn) c.1252C>A (p.His418Asn) | |
2 | g.26285464C>G | CA346096772 | HADHB | c.1282C>G (p.His428Asp) c.913C>G (p.His305Asp) n.2229C>G c.1237C>G (p.His413Asp) c.1216C>G (p.His406Asp) c.1252C>G (p.His418Asp) | |
2 | g.26285464C>T | CA346096773 | HADHB | c.1282C>T (p.His428Tyr) c.913C>T (p.His305Tyr) n.2229C>T c.1237C>T (p.His413Tyr) c.1216C>T (p.His406Tyr) c.1252C>T (p.His418Tyr) | gnomAD v4 |
2 | g.26285465A>C | CA346096774 | HADHB | c.1283A>C (p.His428Pro) c.914A>C (p.His305Pro) n.2230A>C c.1238A>C (p.His413Pro) c.1217A>C (p.His406Pro) c.1253A>C (p.His418Pro) | |
2 | g.26285465A>G | CA346096775 | HADHB | c.1283A>G (p.His428Arg) c.914A>G (p.His305Arg) n.2230A>G c.1238A>G (p.His413Arg) c.1217A>G (p.His406Arg) c.1253A>G (p.His418Arg) | |
2 | g.26285465A>T | CA346096776 | HADHB | c.1283A>T (p.His428Leu) c.914A>T (p.His305Leu) n.2230A>T c.1238A>T (p.His413Leu) c.1217A>T (p.His406Leu) c.1253A>T (p.His418Leu) | gnomAD v4 |
2 | g.26285466C>A | CA346096777 | HADHB | c.1284C>A (p.His428Gln) c.915C>A (p.His305Gln) n.2231C>A c.1239C>A (p.His413Gln) c.1218C>A (p.His406Gln) c.1254C>A (p.His418Gln) | |
2 | g.26285466C>G | CA346096778 | HADHB | c.1284C>G (p.His428Gln) c.915C>G (p.His305Gln) n.2231C>G c.1239C>G (p.His413Gln) c.1218C>G (p.His406Gln) c.1254C>G (p.His418Gln) | gnomAD v4 |
2 | g.26285466C>T | CA425202067 | HADHB | c.1284C>T (p.His428=) c.915C>T (p.His305=) n.2231C>T c.1239C>T (p.His413=) c.1218C>T (p.His406=) c.1254C>T (p.His418=) | ClinVar |
2 | g.26285467C>A | CA346096779 | HADHB | c.1285C>A (p.Pro429Thr) c.916C>A (p.Pro306Thr) n.2232C>A c.1240C>A (p.Pro414Thr) c.1219C>A (p.Pro407Thr) c.1255C>A (p.Pro419Thr) | |
2 | g.26285467C>G | CA346096780 | HADHB | c.1285C>G (p.Pro429Ala) c.916C>G (p.Pro306Ala) n.2232C>G c.1240C>G (p.Pro414Ala) c.1219C>G (p.Pro407Ala) c.1255C>G (p.Pro419Ala) | |
2 | g.26285467C>T | CA346096781 | HADHB | c.1285C>T (p.Pro429Ser) c.916C>T (p.Pro306Ser) n.2232C>T c.1240C>T (p.Pro414Ser) c.1219C>T (p.Pro407Ser) c.1255C>T (p.Pro419Ser) | |
2 | g.26285468C>A | CA346096783 | HADHB | c.1286C>A (p.Pro429Gln) c.917C>A (p.Pro306Gln) n.2233C>A c.1241C>A (p.Pro414Gln) c.1220C>A (p.Pro407Gln) c.1256C>A (p.Pro419Gln) | |
2 | g.26285468C>G | CA346096784 | HADHB | c.1286C>G (p.Pro429Arg) c.917C>G (p.Pro306Arg) n.2233C>G c.1241C>G (p.Pro414Arg) c.1220C>G (p.Pro407Arg) c.1256C>G (p.Pro419Arg) | gnomAD v4 |
2 | g.26285468C>T | CA346096782 | HADHB | c.1286C>T (p.Pro429Leu) c.917C>T (p.Pro306Leu) n.2233C>T c.1241C>T (p.Pro414Leu) c.1220C>T (p.Pro407Leu) c.1256C>T (p.Pro419Leu) | |
2 | g.26285469A= | CA1239745833 | HADHB | c.1287A= (p.Pro429=) c.918A= (p.Pro306=) n.2234A= c.1242A= (p.Pro414=) c.1221A= (p.Pro407=) c.1257A= (p.Pro419=) | |
2 | g.26285469A>C | CA425202070 | HADHB | c.1287A>C (p.Pro429=) c.918A>C (p.Pro306=) n.2234A>C c.1242A>C (p.Pro414=) c.1221A>C (p.Pro407=) c.1257A>C (p.Pro419=) | |
2 | g.26285469A>G | CA425202068 | HADHB | c.1287A>G (p.Pro429=) c.918A>G (p.Pro306=) n.2234A>G c.1242A>G (p.Pro414=) c.1221A>G (p.Pro407=) c.1257A>G (p.Pro419=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285469A>T | CA425202069 | HADHB | c.1287A>T (p.Pro429=) c.918A>T (p.Pro306=) n.2234A>T c.1242A>T (p.Pro414=) c.1221A>T (p.Pro407=) c.1257A>T (p.Pro419=) | |
2 | g.26285470T>A | CA346096787 | HADHB | c.1288T>A (p.Phe430Ile) c.919T>A (p.Phe307Ile) n.2235T>A c.1243T>A (p.Phe415Ile) c.1222T>A (p.Phe408Ile) c.1258T>A (p.Phe420Ile) | |
2 | g.26285470T>C | CA346096785 | HADHB | c.1288T>C (p.Phe430Leu) c.919T>C (p.Phe307Leu) n.2235T>C c.1243T>C (p.Phe415Leu) c.1222T>C (p.Phe408Leu) c.1258T>C (p.Phe420Leu) | |
2 | g.26285470T>G | CA346096786 | HADHB | c.1288T>G (p.Phe430Val) c.919T>G (p.Phe307Val) n.2235T>G c.1243T>G (p.Phe415Val) c.1222T>G (p.Phe408Val) c.1258T>G (p.Phe420Val) | |
2 | g.26285472del | CA2658218251 | HADHB | c.1290del (p.Phe430LeufsTer25) c.921del (p.Phe307LeufsTer25) n.2237del c.1245del (p.Phe415LeufsTer25) c.1224del (p.Phe408LeufsTer25) c.1260del (p.Phe420LeufsTer25) | gnomAD v4 |
2 | g.26285471T>A | CA346096788 | HADHB | c.1289T>A (p.Phe430Tyr) c.920T>A (p.Phe307Tyr) n.2236T>A c.1244T>A (p.Phe415Tyr) c.1223T>A (p.Phe408Tyr) c.1259T>A (p.Phe420Tyr) | |
2 | g.26285471T>C | CA1560506 | HADHB | c.1289T>C (p.Phe430Ser) c.920T>C (p.Phe307Ser) n.2236T>C c.1244T>C (p.Phe415Ser) c.1223T>C (p.Phe408Ser) c.1259T>C (p.Phe420Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26285471T>G | CA346096789 | HADHB | c.1289T>G (p.Phe430Cys) c.920T>G (p.Phe307Cys) n.2236T>G c.1244T>G (p.Phe415Cys) c.1223T>G (p.Phe408Cys) c.1259T>G (p.Phe420Cys) | |
2 | g.26285471T= | CA1239745834 | HADHB | c.1289T= (p.Phe430=) c.920T= (p.Phe307=) n.2236T= c.1244T= (p.Phe415=) c.1223T= (p.Phe408=) c.1259T= (p.Phe420=) | |
2 | g.26285472T>A | CA346096790 | HADHB | c.1290T>A (p.Phe430Leu) c.921T>A (p.Phe307Leu) n.2237T>A c.1245T>A (p.Phe415Leu) c.1224T>A (p.Phe408Leu) c.1260T>A (p.Phe420Leu) | |
2 | g.26285472T>C | CA425202072 | HADHB | c.1290T>C (p.Phe430=) c.921T>C (p.Phe307=) n.2237T>C c.1245T>C (p.Phe415=) c.1224T>C (p.Phe408=) c.1260T>C (p.Phe420=) | |
2 | g.26285472T>G | CA346096791 | HADHB | c.1290T>G (p.Phe430Leu) c.921T>G (p.Phe307Leu) n.2237T>G c.1245T>G (p.Phe415Leu) c.1224T>G (p.Phe408Leu) c.1260T>G (p.Phe420Leu) | |
2 | g.26285473G>A | CA346096792 | HADHB | c.1291G>A (p.Gly431Arg) c.922G>A (p.Gly308Arg) n.2238G>A c.1246G>A (p.Gly416Arg) c.1225G>A (p.Gly409Arg) c.1261G>A (p.Gly421Arg) | |
2 | g.26285473G>C | CA346096793 | HADHB | c.1291G>C (p.Gly431Arg) c.922G>C (p.Gly308Arg) n.2238G>C c.1246G>C (p.Gly416Arg) c.1225G>C (p.Gly409Arg) c.1261G>C (p.Gly421Arg) | |
2 | g.26285473G>T | CA346096794 | HADHB | c.1291G>T (p.Gly431Ter) c.922G>T (p.Gly308Ter) n.2238G>T c.1246G>T (p.Gly416Ter) c.1225G>T (p.Gly409Ter) c.1261G>T (p.Gly421Ter) | |
2 | g.26285474G>A | CA346096795 | HADHB | c.1292G>A (p.Gly431Glu) c.923G>A (p.Gly308Glu) n.2239G>A c.1247G>A (p.Gly416Glu) c.1226G>A (p.Gly409Glu) c.1262G>A (p.Gly421Glu) | |
2 | g.26285474G>C | CA346096796 | HADHB | c.1292G>C (p.Gly431Ala) c.923G>C (p.Gly308Ala) n.2239G>C c.1247G>C (p.Gly416Ala) c.1226G>C (p.Gly409Ala) c.1262G>C (p.Gly421Ala) | gnomAD v4 |
2 | g.26285474G>T | CA346096797 | HADHB | c.1292G>T (p.Gly431Val) c.923G>T (p.Gly308Val) n.2239G>T c.1247G>T (p.Gly416Val) c.1226G>T (p.Gly409Val) c.1262G>T (p.Gly421Val) | |
2 | g.26285475A>C | CA425202079 | HADHB | c.1293A>C (p.Gly431=) c.924A>C (p.Gly308=) n.2240A>C c.1248A>C (p.Gly416=) c.1227A>C (p.Gly409=) c.1263A>C (p.Gly421=) | |
2 | g.26285475A>G | CA425202083 | HADHB | c.1293A>G (p.Gly431=) c.924A>G (p.Gly308=) n.2240A>G c.1248A>G (p.Gly416=) c.1227A>G (p.Gly409=) c.1263A>G (p.Gly421=) | |
2 | g.26285475A>T | CA425202081 | HADHB | c.1293A>T (p.Gly431=) c.924A>T (p.Gly308=) n.2240A>T c.1248A>T (p.Gly416=) c.1227A>T (p.Gly409=) c.1263A>T (p.Gly421=) | |
2 | g.26285476G>A | CA346096798 | HADHB | c.1294G>A (p.Ala432Thr) c.925G>A (p.Ala309Thr) n.2241G>A c.1249G>A (p.Ala417Thr) c.1228G>A (p.Ala410Thr) c.1264G>A (p.Ala422Thr) | dbSNP |
2 | g.26285476G>C | CA346096800 | HADHB | c.1294G>C (p.Ala432Pro) c.925G>C (p.Ala309Pro) n.2241G>C c.1249G>C (p.Ala417Pro) c.1228G>C (p.Ala410Pro) c.1264G>C (p.Ala422Pro) | dbSNP |
2 | g.26285476G= | CA1239745835 | HADHB | c.1294G= (p.Ala432=) c.925G= (p.Ala309=) n.2241G= c.1249G= (p.Ala417=) c.1228G= (p.Ala410=) c.1264G= (p.Ala422=) | |
2 | g.26285476G>T | CA346096799 | HADHB | c.1294G>T (p.Ala432Ser) c.925G>T (p.Ala309Ser) n.2241G>T c.1249G>T (p.Ala417Ser) c.1228G>T (p.Ala410Ser) c.1264G>T (p.Ala422Ser) | |
2 | g.26285477C>A | CA346096801 | HADHB | c.1295C>A (p.Ala432Asp) c.926C>A (p.Ala309Asp) n.2242C>A c.1250C>A (p.Ala417Asp) c.1229C>A (p.Ala410Asp) c.1265C>A (p.Ala422Asp) | |
2 | g.26285477C= | CA1239745836 | HADHB | c.1295C= (p.Ala432=) c.926C= (p.Ala309=) n.2242C= c.1250C= (p.Ala417=) c.1229C= (p.Ala410=) c.1265C= (p.Ala422=) | |
2 | g.26285477C>G | CA346096802 | HADHB | c.1295C>G (p.Ala432Gly) c.926C>G (p.Ala309Gly) n.2242C>G c.1250C>G (p.Ala417Gly) c.1229C>G (p.Ala410Gly) c.1265C>G (p.Ala422Gly) | |
2 | g.26285477C>T | CA1560507 | HADHB | c.1295C>T (p.Ala432Val) c.926C>T (p.Ala309Val) n.2242C>T c.1250C>T (p.Ala417Val) c.1229C>T (p.Ala410Val) c.1265C>T (p.Ala422Val) | dbSNP ExAC gnomAD v2 |
2 | g.26285478C>A | CA425202085 | HADHB | c.1296C>A (p.Ala432=) c.927C>A (p.Ala309=) n.2243C>A c.1251C>A (p.Ala417=) c.1230C>A (p.Ala410=) c.1266C>A (p.Ala422=) | |
2 | g.26285478C= | CA1239745837 | HADHB | c.1296C= (p.Ala432=) c.927C= (p.Ala309=) n.2243C= c.1251C= (p.Ala417=) c.1230C= (p.Ala410=) c.1266C= (p.Ala422=) | |
2 | g.26285478C>G | CA425202086 | HADHB | c.1296C>G (p.Ala432=) c.927C>G (p.Ala309=) n.2243C>G c.1251C>G (p.Ala417=) c.1230C>G (p.Ala410=) c.1266C>G (p.Ala422=) | |
2 | g.26285478C>T | CA44342849 | HADHB | c.1296C>T (p.Ala432=) c.927C>T (p.Ala309=) n.2243C>T c.1251C>T (p.Ala417=) c.1230C>T (p.Ala410=) c.1266C>T (p.Ala422=) | ClinVar dbSNP gnomAD v4 |
2 | g.26285479A>C | CA346096803 | HADHB | c.1297A>C (p.Thr433Pro) c.928A>C (p.Thr310Pro) n.2244A>C c.1252A>C (p.Thr418Pro) c.1231A>C (p.Thr411Pro) c.1267A>C (p.Thr423Pro) | |
2 | g.26285479A>G | CA346096804 | HADHB | c.1297A>G (p.Thr433Ala) c.928A>G (p.Thr310Ala) n.2244A>G c.1252A>G (p.Thr418Ala) c.1231A>G (p.Thr411Ala) c.1267A>G (p.Thr423Ala) | |
2 | g.26285479A>T | CA346096805 | HADHB | c.1297A>T (p.Thr433Ser) c.928A>T (p.Thr310Ser) n.2244A>T c.1252A>T (p.Thr418Ser) c.1231A>T (p.Thr411Ser) c.1267A>T (p.Thr423Ser) | |
2 | g.26285480del | CA2658218252 | HADHB | c.1298del (p.Thr433MetfsTer22) c.929del (p.Thr310MetfsTer22) n.2245del c.1253del (p.Thr418MetfsTer22) c.1232del (p.Thr411MetfsTer22) c.1268del (p.Thr423MetfsTer22) | gnomAD v4 |
2 | g.26285480C>A | CA346096806 | HADHB | c.1298C>A (p.Thr433Asn) c.929C>A (p.Thr310Asn) n.2245C>A c.1253C>A (p.Thr418Asn) c.1232C>A (p.Thr411Asn) c.1268C>A (p.Thr423Asn) | |
2 | g.26285480C= | CA1239745838 | HADHB | c.1298C= (p.Thr433=) c.929C= (p.Thr310=) n.2245C= c.1253C= (p.Thr418=) c.1232C= (p.Thr411=) c.1268C= (p.Thr423=) | |
2 | g.26285480C>G | CA346096807 | HADHB | c.1298C>G (p.Thr433Ser) c.929C>G (p.Thr310Ser) n.2245C>G c.1253C>G (p.Thr418Ser) c.1232C>G (p.Thr411Ser) c.1268C>G (p.Thr423Ser) | gnomAD v4 |
2 | g.26285480C>T | CA1560508 | HADHB | c.1298C>T (p.Thr433Ile) c.929C>T (p.Thr310Ile) n.2245C>T c.1253C>T (p.Thr418Ile) c.1232C>T (p.Thr411Ile) c.1268C>T (p.Thr423Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285481T>A | CA425202089 | HADHB | c.1299T>A (p.Thr433=) c.930T>A (p.Thr310=) n.2246T>A c.1254T>A (p.Thr418=) c.1233T>A (p.Thr411=) c.1269T>A (p.Thr423=) | |
2 | g.26285481T>C | CA425202090 | HADHB | c.1299T>C (p.Thr433=) c.930T>C (p.Thr310=) n.2246T>C c.1254T>C (p.Thr418=) c.1233T>C (p.Thr411=) c.1269T>C (p.Thr423=) | |
2 | g.26285481T>G | CA425202091 | HADHB | c.1299T>G (p.Thr433=) c.930T>G (p.Thr310=) n.2246T>G c.1254T>G (p.Thr418=) c.1233T>G (p.Thr411=) c.1269T>G (p.Thr423=) | |
2 | g.26285482G>A | CA346096809 | HADHB | c.1300G>A (p.Gly434Ser) c.931G>A (p.Gly311Ser) n.2247G>A c.1255G>A (p.Gly419Ser) c.1234G>A (p.Gly412Ser) c.1270G>A (p.Gly424Ser) | |
2 | g.26285482G>C | CA346096810 | HADHB | c.1300G>C (p.Gly434Arg) c.931G>C (p.Gly311Arg) n.2247G>C c.1255G>C (p.Gly419Arg) c.1234G>C (p.Gly412Arg) c.1270G>C (p.Gly424Arg) | |
2 | g.26285482G>T | CA346096808 | HADHB | c.1300G>T (p.Gly434Cys) c.931G>T (p.Gly311Cys) n.2247G>T c.1255G>T (p.Gly419Cys) c.1234G>T (p.Gly412Cys) c.1270G>T (p.Gly424Cys) | |
2 | g.26285483G>A | CA346096811 | HADHB | c.1301G>A (p.Gly434Asp) c.932G>A (p.Gly311Asp) n.2248G>A c.1256G>A (p.Gly419Asp) c.1235G>A (p.Gly412Asp) c.1271G>A (p.Gly424Asp) | |
2 | g.26285483G>C | CA346096812 | HADHB | c.1301G>C (p.Gly434Ala) c.932G>C (p.Gly311Ala) n.2248G>C c.1256G>C (p.Gly419Ala) c.1235G>C (p.Gly412Ala) c.1271G>C (p.Gly424Ala) | |
2 | g.26285483G= | CA1239745839 | HADHB | c.1301G= (p.Gly434=) c.932G= (p.Gly311=) n.2248G= c.1256G= (p.Gly419=) c.1235G= (p.Gly412=) c.1271G= (p.Gly424=) | |
2 | g.26285483G>T | CA1560509 | HADHB | c.1301G>T (p.Gly434Val) c.932G>T (p.Gly311Val) n.2248G>T c.1256G>T (p.Gly419Val) c.1235G>T (p.Gly412Val) c.1271G>T (p.Gly424Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285484C>A | CA425202096 | HADHB | c.1302C>A (p.Gly434=) c.933C>A (p.Gly311=) n.2249C>A c.1257C>A (p.Gly419=) c.1236C>A (p.Gly412=) c.1272C>A (p.Gly424=) | |
2 | g.26285484C= | CA1239745840 | HADHB | c.1302C= (p.Gly434=) c.933C= (p.Gly311=) n.2249C= c.1257C= (p.Gly419=) c.1236C= (p.Gly412=) c.1272C= (p.Gly424=) | |
2 | g.26285484C>G | CA425202097 | HADHB | c.1302C>G (p.Gly434=) c.933C>G (p.Gly311=) n.2249C>G c.1257C>G (p.Gly419=) c.1236C>G (p.Gly412=) c.1272C>G (p.Gly424=) | |
2 | g.26285484C>T | CA1560510 | HADHB | c.1302C>T (p.Gly434=) c.933C>T (p.Gly311=) n.2249C>T c.1257C>T (p.Gly419=) c.1236C>T (p.Gly412=) c.1272C>T (p.Gly424=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285485T>A | CA346096813 | HADHB | c.1303T>A (p.Cys435Ser) c.934T>A (p.Cys312Ser) n.2250T>A c.1258T>A (p.Cys420Ser) c.1237T>A (p.Cys413Ser) c.1273T>A (p.Cys425Ser) | |
2 | g.26285485T>C | CA346096814 | HADHB | c.1303T>C (p.Cys435Arg) c.934T>C (p.Cys312Arg) n.2250T>C c.1258T>C (p.Cys420Arg) c.1237T>C (p.Cys413Arg) c.1273T>C (p.Cys425Arg) | |
2 | g.26285485T>G | CA346096815 | HADHB | c.1303T>G (p.Cys435Gly) c.934T>G (p.Cys312Gly) n.2250T>G c.1258T>G (p.Cys420Gly) c.1237T>G (p.Cys413Gly) c.1273T>G (p.Cys425Gly) | |
2 | g.26285486G>A | CA346096816 | HADHB | c.1304G>A (p.Cys435Tyr) c.935G>A (p.Cys312Tyr) n.2251G>A c.1259G>A (p.Cys420Tyr) c.1238G>A (p.Cys413Tyr) c.1274G>A (p.Cys425Tyr) | gnomAD v4 |
2 | g.26285486G>C | CA346096818 | HADHB | c.1304G>C (p.Cys435Ser) c.935G>C (p.Cys312Ser) n.2251G>C c.1259G>C (p.Cys420Ser) c.1238G>C (p.Cys413Ser) c.1274G>C (p.Cys425Ser) | |
2 | g.26285486G>T | CA346096817 | HADHB | c.1304G>T (p.Cys435Phe) c.935G>T (p.Cys312Phe) n.2251G>T c.1259G>T (p.Cys420Phe) c.1238G>T (p.Cys413Phe) c.1274G>T (p.Cys425Phe) | |
2 | g.26285487C>A | CA346096819 | HADHB | c.1305C>A (p.Cys435Ter) c.936C>A (p.Cys312Ter) n.2252C>A c.1260C>A (p.Cys420Ter) c.1239C>A (p.Cys413Ter) c.1275C>A (p.Cys425Ter) | |
2 | g.26285487C>G | CA346096820 | HADHB | c.1305C>G (p.Cys435Trp) c.936C>G (p.Cys312Trp) n.2252C>G c.1260C>G (p.Cys420Trp) c.1239C>G (p.Cys413Trp) c.1275C>G (p.Cys425Trp) | |
2 | g.26285487C>T | CA425202101 | HADHB | c.1305C>T (p.Cys435=) c.936C>T (p.Cys312=) n.2252C>T c.1260C>T (p.Cys420=) c.1239C>T (p.Cys413=) c.1275C>T (p.Cys425=) | |
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.26285488A>C | CA425202102 | HADHB | c.1306A>C (p.Arg436=) c.937A>C (p.Arg313=) n.2253A>C c.1261A>C (p.Arg421=) c.1240A>C (p.Arg414=) c.1276A>C (p.Arg426=) | |
2 | g.26285488A>G | CA346096821 | HADHB | c.1306A>G (p.Arg436Gly) c.937A>G (p.Arg313Gly) n.2253A>G c.1261A>G (p.Arg421Gly) c.1240A>G (p.Arg414Gly) c.1276A>G (p.Arg426Gly) | gnomAD v4 |
2 | g.26285488A>T | CA346096822 | HADHB | c.1306A>T (p.Arg436Trp) c.937A>T (p.Arg313Trp) n.2253A>T c.1261A>T (p.Arg421Trp) c.1240A>T (p.Arg414Trp) c.1276A>T (p.Arg426Trp) | |
2 | g.26285489G>A | CA346096823 | HADHB | c.1307G>A (p.Arg436Lys) c.938G>A (p.Arg313Lys) n.2254G>A c.1262G>A (p.Arg421Lys) c.1241G>A (p.Arg414Lys) c.1277G>A (p.Arg426Lys) | gnomAD v4 |
2 | g.26285489G>C | CA346096825 | HADHB | c.1307G>C (p.Arg436Thr) c.938G>C (p.Arg313Thr) n.2254G>C c.1262G>C (p.Arg421Thr) c.1241G>C (p.Arg414Thr) c.1277G>C (p.Arg426Thr) | |
2 | g.26285489G>T | CA346096824 | HADHB | c.1307G>T (p.Arg436Met) c.938G>T (p.Arg313Met) n.2254G>T c.1262G>T (p.Arg421Met) c.1241G>T (p.Arg414Met) c.1277G>T (p.Arg426Met) | |
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) |