Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41424449_41424450del | CA2695198208 | BCKDHA | c.1179_1180del (p.Phe394Ter) c.1188_1189del (p.Phe397Ter) c.1281_1282del (p.Phe428Ter) c.62-53_62-52del c.922+1752_922+1753del (n.922+1752_922+1753del) c.1176_1177del (p.Phe393Ter) | ClinVar |
19 | g.41424450T>A | CA406015197 | BCKDHA | c.1180T>A (p.Phe394Ile) c.1189T>A (p.Phe397Ile) c.1282T>A (p.Phe428Ile) c.62-52T>A c.922+1753T>A (n.922+1753T>A) c.1177T>A (p.Phe393Ile) | |
19 | g.41424450T>C | CA406015198 | BCKDHA | c.1180T>C (p.Phe394Leu) c.1189T>C (p.Phe397Leu) c.1282T>C (p.Phe428Leu) c.62-52T>C c.922+1753T>C (n.922+1753T>C) c.1177T>C (p.Phe393Leu) | ClinVar |
19 | g.41424450T>G | CA406015200 | BCKDHA | c.1180T>G (p.Phe394Val) c.1189T>G (p.Phe397Val) c.1282T>G (p.Phe428Val) c.62-52T>G c.922+1753T>G (n.922+1753T>G) c.1177T>G (p.Phe393Val) | |
19 | g.41424451T>A | CA406015203 | BCKDHA | c.1181T>A (p.Phe394Tyr) c.1190T>A (p.Phe397Tyr) c.1283T>A (p.Phe428Tyr) c.62-51T>A c.922+1754T>A (n.922+1754T>A) c.1178T>A (p.Phe393Tyr) | |
19 | g.41424451T>C | CA406015204 | BCKDHA | c.1181T>C (p.Phe394Ser) c.1190T>C (p.Phe397Ser) c.1283T>C (p.Phe428Ser) c.62-51T>C c.922+1754T>C (n.922+1754T>C) c.1178T>C (p.Phe393Ser) | |
19 | g.41424451T>G | CA406015205 | BCKDHA | c.1181T>G (p.Phe394Cys) c.1190T>G (p.Phe397Cys) c.1283T>G (p.Phe428Cys) c.62-51T>G c.922+1754T>G (n.922+1754T>G) c.1178T>G (p.Phe393Cys) | |
19 | g.41424452T>A | CA406015208 | BCKDHA | c.1182T>A (p.Phe394Leu) c.1191T>A (p.Phe397Leu) c.1284T>A (p.Phe428Leu) c.62-50T>A c.922+1755T>A (n.922+1755T>A) c.1179T>A (p.Phe393Leu) | |
19 | g.41424452T>C | CA507560653 | BCKDHA | c.1182T>C (p.Phe394=) c.1191T>C (p.Phe397=) c.1284T>C (p.Phe428=) c.62-50T>C c.922+1755T>C (n.922+1755T>C) c.1179T>C (p.Phe393=) | ClinVar |
19 | g.41424452T>G | CA9461398 | BCKDHA | c.1182T>G (p.Phe394Leu) c.1191T>G (p.Phe397Leu) c.1284T>G (p.Phe428Leu) c.62-50T>G c.922+1755T>G (n.922+1755T>G) c.1179T>G (p.Phe393Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424452T= | CA2336460025 | BCKDHA | c.1182T= (p.Phe394=) c.1191T= (p.Phe397=) c.1284T= (p.Phe428=) c.62-50T= c.922+1755T= (n.922+1755T=) c.1179T= (p.Phe393=) | |
19 | g.41424453G>A | CA406015211 | BCKDHA | c.1183G>A (p.Glu395Lys) c.1192G>A (p.Glu398Lys) c.1285G>A (p.Glu429Lys) c.62-49G>A c.922+1756G>A (n.922+1756G>A) c.1180G>A (p.Glu394Lys) | |
19 | g.41424453G>C | CA406015213 | BCKDHA | c.1183G>C (p.Glu395Gln) c.1192G>C (p.Glu398Gln) c.1285G>C (p.Glu429Gln) c.62-49G>C c.922+1756G>C (n.922+1756G>C) c.1180G>C (p.Glu394Gln) | |
19 | g.41424453G>T | CA406015215 | BCKDHA | c.1183G>T (p.Glu395Ter) c.1192G>T (p.Glu398Ter) c.1285G>T (p.Glu429Ter) c.62-49G>T c.922+1756G>T (n.922+1756G>T) c.1180G>T (p.Glu394Ter) | |
19 | g.41424454A>C | CA406015221 | BCKDHA | c.1184A>C (p.Glu395Ala) c.1193A>C (p.Glu398Ala) c.1286A>C (p.Glu429Ala) c.62-48A>C c.922+1757A>C (n.922+1757A>C) c.1181A>C (p.Glu394Ala) | |
19 | g.41424454A>G | CA406015219 | BCKDHA | c.1184A>G (p.Glu395Gly) c.1193A>G (p.Glu398Gly) c.1286A>G (p.Glu429Gly) c.62-48A>G c.922+1757A>G (n.922+1757A>G) c.1181A>G (p.Glu394Gly) | |
19 | g.41424454A>T | CA406015218 | BCKDHA | c.1184A>T (p.Glu395Val) c.1193A>T (p.Glu398Val) c.1286A>T (p.Glu429Val) c.62-48A>T c.922+1757A>T (n.922+1757A>T) c.1181A>T (p.Glu394Val) | |
19 | g.41424454_41424469del | CA2585308445 | BCKDHA | c.1184_1199del (p.Glu395GlyfsTer?) c.1193_1208del (p.Glu398GlyfsTer?) c.1286_1301del (p.Glu429GlyfsTer?) c.62-48_62-33del c.922+1757_922+1772del (n.922+1757_922+1772del) c.1181_1196del (p.Glu394GlyfsTer?) | gnomAD v4 |
19 | g.41424455G>A | CA507560654 | BCKDHA | c.1185G>A (p.Glu395=) c.1194G>A (p.Glu398=) c.1287G>A (p.Glu429=) c.62-47G>A c.922+1758G>A (n.922+1758G>A) c.1182G>A (p.Glu394=) | |
19 | g.41424455G>C | CA406015224 | BCKDHA | c.1185G>C (p.Glu395Asp) c.1194G>C (p.Glu398Asp) c.1287G>C (p.Glu429Asp) c.62-47G>C c.922+1758G>C (n.922+1758G>C) c.1182G>C (p.Glu394Asp) | |
19 | g.41424455G>T | CA406015225 | BCKDHA | c.1185G>T (p.Glu395Asp) c.1194G>T (p.Glu398Asp) c.1287G>T (p.Glu429Asp) c.62-47G>T c.922+1758G>T (n.922+1758G>T) c.1182G>T (p.Glu394Asp) | |
19 | g.41424456C>A | CA406015227 | BCKDHA | c.1186C>A (p.Gln396Lys) c.1195C>A (p.Gln399Lys) c.1288C>A (p.Gln430Lys) c.62-46C>A c.922+1759C>A (n.922+1759C>A) c.1183C>A (p.Gln395Lys) | |
19 | g.41424456C>G | CA406015229 | BCKDHA | c.1186C>G (p.Gln396Glu) c.1195C>G (p.Gln399Glu) c.1288C>G (p.Gln430Glu) c.62-46C>G c.922+1759C>G (n.922+1759C>G) c.1183C>G (p.Gln395Glu) | |
19 | g.41424456C>T | CA406015231 | BCKDHA | c.1186C>T (p.Gln396Ter) c.1195C>T (p.Gln399Ter) c.1288C>T (p.Gln430Ter) c.62-46C>T c.922+1759C>T (n.922+1759C>T) c.1183C>T (p.Gln395Ter) | |
19 | g.41424457A>C | CA406015232 | BCKDHA | c.1187A>C (p.Gln396Pro) c.1196A>C (p.Gln399Pro) c.1289A>C (p.Gln430Pro) c.62-45A>C c.922+1760A>C (n.922+1760A>C) c.1184A>C (p.Gln395Pro) | gnomAD v4 |
19 | g.41424457A>G | CA406015234 | BCKDHA | c.1187A>G (p.Gln396Arg) c.1196A>G (p.Gln399Arg) c.1289A>G (p.Gln430Arg) c.62-45A>G c.922+1760A>G (n.922+1760A>G) c.1184A>G (p.Gln395Arg) | gnomAD v4 |
19 | g.41424457A>T | CA406015236 | BCKDHA | c.1187A>T (p.Gln396Leu) c.1196A>T (p.Gln399Leu) c.1289A>T (p.Gln430Leu) c.62-45A>T c.922+1760A>T (n.922+1760A>T) c.1184A>T (p.Gln395Leu) | |
19 | g.41424458G>A | CA507560655 | BCKDHA | c.1188G>A (p.Gln396=) c.1197G>A (p.Gln399=) c.1290G>A (p.Gln430=) c.62-44G>A c.922+1761G>A (n.922+1761G>A) c.1185G>A (p.Gln395=) | |
19 | g.41424458G>C | CA406015237 | BCKDHA | c.1188G>C (p.Gln396His) c.1197G>C (p.Gln399His) c.1290G>C (p.Gln430His) c.62-44G>C c.922+1761G>C (n.922+1761G>C) c.1185G>C (p.Gln395His) | |
19 | g.41424458G>T | CA406015238 | BCKDHA | c.1188G>T (p.Gln396His) c.1197G>T (p.Gln399His) c.1290G>T (p.Gln430His) c.62-44G>T c.922+1761G>T (n.922+1761G>T) c.1185G>T (p.Gln395His) | |
19 | g.41424459G>A | CA9461399 | BCKDHA | c.1189G>A (p.Ala397Thr) c.1198G>A (p.Ala400Thr) c.1291G>A (p.Ala431Thr) c.62-43G>A c.922+1762G>A (n.922+1762G>A) c.1186G>A (p.Ala396Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424459G>C | CA406015242 | BCKDHA | c.1189G>C (p.Ala397Pro) c.1198G>C (p.Ala400Pro) c.1291G>C (p.Ala431Pro) c.62-43G>C c.922+1762G>C (n.922+1762G>C) c.1186G>C (p.Ala396Pro) | |
19 | g.41424459G= | CA2336460026 | BCKDHA | c.1189G= (p.Ala397=) c.1198G= (p.Ala400=) c.1291G= (p.Ala431=) c.62-43G= c.922+1762G= (n.922+1762G=) c.1186G= (p.Ala396=) | |
19 | g.41424459G>T | CA406015244 | BCKDHA | c.1189G>T (p.Ala397Ser) c.1198G>T (p.Ala400Ser) c.1291G>T (p.Ala431Ser) c.62-43G>T c.922+1762G>T (n.922+1762G>T) c.1186G>T (p.Ala396Ser) | |
19 | g.41424460C>A | CA406015247 | BCKDHA | c.1190C>A (p.Ala397Asp) c.1199C>A (p.Ala400Asp) c.1292C>A (p.Ala431Asp) c.62-42C>A c.922+1763C>A (n.922+1763C>A) c.1187C>A (p.Ala396Asp) | |
19 | g.41424460C>G | CA406015248 | BCKDHA | c.1190C>G (p.Ala397Gly) c.1199C>G (p.Ala400Gly) c.1292C>G (p.Ala431Gly) c.62-42C>G c.922+1763C>G (n.922+1763C>G) c.1187C>G (p.Ala396Gly) | |
19 | g.41424460C>T | CA406015250 | BCKDHA | c.1190C>T (p.Ala397Val) c.1199C>T (p.Ala400Val) c.1292C>T (p.Ala431Val) c.62-42C>T c.922+1763C>T (n.922+1763C>T) c.1187C>T (p.Ala396Val) | |
19 | g.41424461C>A | CA507560657 | BCKDHA | c.1191C>A (p.Ala397=) c.1200C>A (p.Ala400=) c.1293C>A (p.Ala431=) c.62-41C>A c.922+1764C>A (n.922+1764C>A) c.1188C>A (p.Ala396=) | gnomAD v4 |
19 | g.41424461C= | CA2336460027 | BCKDHA | c.1191C= (p.Ala397=) c.1200C= (p.Ala400=) c.1293C= (p.Ala431=) c.62-41C= c.922+1764C= (n.922+1764C=) c.1188C= (p.Ala396=) | |
19 | g.41424461C>G | CA507560656 | BCKDHA | c.1191C>G (p.Ala397=) c.1200C>G (p.Ala400=) c.1293C>G (p.Ala431=) c.62-41C>G c.922+1764C>G (n.922+1764C>G) c.1188C>G (p.Ala396=) | dbSNP |
19 | g.41424461C>T | CA9461400 | BCKDHA | c.1191C>T (p.Ala397=) c.1200C>T (p.Ala400=) c.1293C>T (p.Ala431=) c.62-41C>T c.922+1764C>T (n.922+1764C>T) c.1188C>T (p.Ala396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424462G>A | CA9461401 | BCKDHA | c.1192G>A (p.Glu398Lys) c.1201G>A (p.Glu401Lys) c.1294G>A (p.Glu432Lys) c.62-40G>A c.922+1765G>A (n.922+1765G>A) c.1189G>A (p.Glu397Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424462G>C | CA406015255 | BCKDHA | c.1192G>C (p.Glu398Gln) c.1201G>C (p.Glu401Gln) c.1294G>C (p.Glu432Gln) c.62-40G>C c.922+1765G>C (n.922+1765G>C) c.1189G>C (p.Glu397Gln) | |
19 | g.41424462G= | CA2336460028 | BCKDHA | c.1192G= (p.Glu398=) c.1201G= (p.Glu401=) c.1294G= (p.Glu432=) c.62-40G= c.922+1765G= (n.922+1765G=) c.1189G= (p.Glu397=) | |
19 | g.41424462G>T | CA406015257 | BCKDHA | c.1192G>T (p.Glu398Ter) c.1201G>T (p.Glu401Ter) c.1294G>T (p.Glu432Ter) c.62-40G>T c.922+1765G>T (n.922+1765G>T) c.1189G>T (p.Glu397Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424463A= | CA2336460029 | BCKDHA | c.1193A= (p.Glu398=) c.1202A= (p.Glu401=) c.1295A= (p.Glu432=) c.62-39A= c.922+1766A= (n.922+1766A=) c.1190A= (p.Glu397=) | |
19 | g.41424463A>C | CA406015259 | BCKDHA | c.1193A>C (p.Glu398Ala) c.1202A>C (p.Glu401Ala) c.1295A>C (p.Glu432Ala) c.62-39A>C c.922+1766A>C (n.922+1766A>C) c.1190A>C (p.Glu397Ala) | |
19 | g.41424463A>G | CA406015261 | BCKDHA | c.1193A>G (p.Glu398Gly) c.1202A>G (p.Glu401Gly) c.1295A>G (p.Glu432Gly) c.62-39A>G c.922+1766A>G (n.922+1766A>G) c.1190A>G (p.Glu397Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41424463A>T | CA406015262 | BCKDHA | c.1193A>T (p.Glu398Val) c.1202A>T (p.Glu401Val) c.1295A>T (p.Glu432Val) c.62-39A>T c.922+1766A>T (n.922+1766A>T) c.1190A>T (p.Glu397Val) | |
19 | g.41424464G>A | CA507560658 | BCKDHA | c.1194G>A (p.Glu398=) c.1203G>A (p.Glu401=) c.1296G>A (p.Glu432=) c.62-38G>A c.922+1767G>A (n.922+1767G>A) c.1191G>A (p.Glu397=) | ClinVar gnomAD v4 |
19 | g.41424464G>C | CA406015264 | BCKDHA | c.1194G>C (p.Glu398Asp) c.1203G>C (p.Glu401Asp) c.1296G>C (p.Glu432Asp) c.62-38G>C c.922+1767G>C (n.922+1767G>C) c.1191G>C (p.Glu397Asp) | gnomAD v4 |
19 | g.41424464G>T | CA406015266 | BCKDHA | c.1194G>T (p.Glu398Asp) c.1203G>T (p.Glu401Asp) c.1296G>T (p.Glu432Asp) c.62-38G>T c.922+1767G>T (n.922+1767G>T) c.1191G>T (p.Glu397Asp) | gnomAD v4 COSMIC |
19 | g.41424465C>A | CA507560659 | BCKDHA | c.1195C>A (p.Arg399=) c.1204C>A (p.Arg402=) c.1297C>A (p.Arg433=) c.62-37C>A c.922+1768C>A (n.922+1768C>A) c.1192C>A (p.Arg398=) | |
19 | g.41424465C= | CA2336460030 | BCKDHA | c.1195C= (p.Arg399=) c.1204C= (p.Arg402=) c.1297C= (p.Arg433=) c.62-37C= c.922+1768C= (n.922+1768C=) c.1192C= (p.Arg398=) | |
19 | g.41424465C>G | CA406015268 | BCKDHA | c.1195C>G (p.Arg399Gly) c.1204C>G (p.Arg402Gly) c.1297C>G (p.Arg433Gly) c.62-37C>G c.922+1768C>G (n.922+1768C>G) c.1192C>G (p.Arg398Gly) | |
19 | g.41424465C>T | CA9461402 | BCKDHA | c.1195C>T (p.Arg399Trp) c.1204C>T (p.Arg402Trp) c.1297C>T (p.Arg433Trp) c.62-37C>T c.922+1768C>T (n.922+1768C>T) c.1192C>T (p.Arg398Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424466G>A | CA9461403 | BCKDHA | c.1196G>A (p.Arg399Gln) c.1205G>A (p.Arg402Gln) c.1298G>A (p.Arg433Gln) c.62-36G>A c.922+1769G>A (n.922+1769G>A) c.1193G>A (p.Arg398Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424466G>C | CA406015272 | BCKDHA | c.1196G>C (p.Arg399Pro) c.1205G>C (p.Arg402Pro) c.1298G>C (p.Arg433Pro) c.62-36G>C c.922+1769G>C (n.922+1769G>C) c.1193G>C (p.Arg398Pro) | |
19 | g.41424466G= | CA2336460031 | BCKDHA | c.1196G= (p.Arg399=) c.1205G= (p.Arg402=) c.1298G= (p.Arg433=) c.62-36G= c.922+1769G= (n.922+1769G=) c.1193G= (p.Arg398=) | |
19 | g.41424466G>T | CA406015274 | BCKDHA | c.1196G>T (p.Arg399Leu) c.1205G>T (p.Arg402Leu) c.1298G>T (p.Arg433Leu) c.62-36G>T c.922+1769G>T (n.922+1769G>T) c.1193G>T (p.Arg398Leu) | |
19 | g.41424467G>A | CA507560660 | BCKDHA | c.1197G>A (p.Arg399=) c.1206G>A (p.Arg402=) c.1299G>A (p.Arg433=) c.62-35G>A c.922+1770G>A (n.922+1770G>A) c.1194G>A (p.Arg398=) | gnomAD v4 |
19 | g.41424467G>C | CA507560661 | BCKDHA | c.1197G>C (p.Arg399=) c.1206G>C (p.Arg402=) c.1299G>C (p.Arg433=) c.62-35G>C c.922+1770G>C (n.922+1770G>C) c.1194G>C (p.Arg398=) | ClinVar dbSNP |
19 | g.41424467G>T | CA507560662 | BCKDHA | c.1197G>T (p.Arg399=) c.1206G>T (p.Arg402=) c.1299G>T (p.Arg433=) c.62-35G>T c.922+1770G>T (n.922+1770G>T) c.1194G>T (p.Arg398=) | |
19 | g.41424468A= | CA2336460032 | BCKDHA | c.1198A= (p.Lys400=) c.1207A= (p.Lys403=) c.1300A= (p.Lys434=) c.62-34A= c.922+1771A= (n.922+1771A=) c.1195A= (p.Lys399=) | |
19 | g.41424468A>C | CA406015275 | BCKDHA | c.1198A>C (p.Lys400Gln) c.1207A>C (p.Lys403Gln) c.1300A>C (p.Lys434Gln) c.62-34A>C c.922+1771A>C (n.922+1771A>C) c.1195A>C (p.Lys399Gln) | |
19 | g.41424468A>G | CA406015277 | BCKDHA | c.1198A>G (p.Lys400Glu) c.1207A>G (p.Lys403Glu) c.1300A>G (p.Lys434Glu) c.62-34A>G c.922+1771A>G (n.922+1771A>G) c.1195A>G (p.Lys399Glu) | gnomAD v4 |
19 | g.41424468A>T | CA279886 | BCKDHA | c.1198A>T (p.Lys400Ter) c.1207A>T (p.Lys403Ter) c.1300A>T (p.Lys434Ter) c.62-34A>T c.922+1771A>T (n.922+1771A>T) c.1195A>T (p.Lys399Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424469del | CA2695228769 | BCKDHA | c.1199del (p.Lys400SerfsTer?) c.1208del (p.Lys403SerfsTer?) c.1301del (p.Lys434SerfsTer?) c.62-33del c.922+1772del (n.922+1772del) c.1196del (p.Lys399SerfsTer?) | |
19 | g.41424469A>C | CA406015279 | BCKDHA | c.1199A>C (p.Lys400Thr) c.1208A>C (p.Lys403Thr) c.1301A>C (p.Lys434Thr) c.62-33A>C c.922+1772A>C (n.922+1772A>C) c.1196A>C (p.Lys399Thr) | |
19 | g.41424469A>G | CA406015281 | BCKDHA | c.1199A>G (p.Lys400Arg) c.1208A>G (p.Lys403Arg) c.1301A>G (p.Lys434Arg) c.62-33A>G c.922+1772A>G (n.922+1772A>G) c.1196A>G (p.Lys399Arg) | |
19 | g.41424469A>T | CA406015282 | BCKDHA | c.1199A>T (p.Lys400Met) c.1208A>T (p.Lys403Met) c.1301A>T (p.Lys434Met) c.62-33A>T c.922+1772A>T (n.922+1772A>T) c.1196A>T (p.Lys399Met) | |
19 | g.41424470G>A | CA507560663 | BCKDHA | c.1200G>A (p.Lys400=) c.1209G>A (p.Lys403=) c.1302G>A (p.Lys434=) c.62-32G>A c.922+1773G>A (n.922+1773G>A) c.1197G>A (p.Lys399=) | |
19 | g.41424470G>C | CA406015283 | BCKDHA | c.1200G>C (p.Lys400Asn) c.1209G>C (p.Lys403Asn) c.1302G>C (p.Lys434Asn) c.62-32G>C c.922+1773G>C (n.922+1773G>C) c.1197G>C (p.Lys399Asn) | |
19 | g.41424470G>T | CA406015284 | BCKDHA | c.1200G>T (p.Lys400Asn) c.1209G>T (p.Lys403Asn) c.1302G>T (p.Lys434Asn) c.62-32G>T c.922+1773G>T (n.922+1773G>T) c.1197G>T (p.Lys399Asn) | |
19 | g.41424470dup | CA2838226217 | BCKDHA | c.1200dup (p.Pro401AlafsTer?) c.1209dup (p.Pro404AlafsTer?) c.1302dup (p.Pro435AlafsTer?) c.62-32dup c.922+1773dup (n.922+1773dup) c.1197dup (p.Pro400AlafsTer?) | |
19 | g.41424471C>A | CA406015286 | BCKDHA | c.1201C>A (p.Pro401Thr) c.1210C>A (p.Pro404Thr) c.1303C>A (p.Pro435Thr) c.62-31C>A c.922+1774C>A (n.922+1774C>A) c.1198C>A (p.Pro400Thr) | |
19 | g.41424471C>G | CA406015288 | BCKDHA | c.1201C>G (p.Pro401Ala) c.1210C>G (p.Pro404Ala) c.1303C>G (p.Pro435Ala) c.62-31C>G c.922+1774C>G (n.922+1774C>G) c.1198C>G (p.Pro400Ala) | |
19 | g.41424471C>T | CA406015290 | BCKDHA | c.1201C>T (p.Pro401Ser) c.1210C>T (p.Pro404Ser) c.1303C>T (p.Pro435Ser) c.62-31C>T c.922+1774C>T (n.922+1774C>T) c.1198C>T (p.Pro400Ser) | |
19 | g.41424473del | CA2838226218 | BCKDHA | c.1203del (p.Lys402AsnfsTer?) c.1212del (p.Lys405AsnfsTer?) c.1305del (p.Lys436AsnfsTer?) c.62-29del c.922+1776del (n.922+1776del) c.1200del (p.Lys401AsnfsTer?) | |
19 | g.41424476_41424481dup | CA2695228770 | BCKDHA | c.1206_1211dup (p.Pro403_Asn404insLysPro) c.1215_1220dup (p.Pro406_Asn407insLysPro) c.1308_1313dup (p.Pro437_Asn438insLysPro) c.62-26_62-21dup c.922+1779_922+1784dup (n.922+1779_922+1784dup) c.1203_1208dup (p.Pro402_Asn403insLysPro) | |
19 | g.41424472C>A | CA406015292 | BCKDHA | c.1202C>A (p.Pro401His) c.1211C>A (p.Pro404His) c.1304C>A (p.Pro435His) c.62-30C>A c.922+1775C>A (n.922+1775C>A) c.1199C>A (p.Pro400His) | |
19 | g.41424472C= | CA2336460033 | BCKDHA | c.1202C= (p.Pro401=) c.1211C= (p.Pro404=) c.1304C= (p.Pro435=) c.62-30C= c.922+1775C= (n.922+1775C=) c.1199C= (p.Pro400=) | |
19 | g.41424472C>G | CA406015294 | BCKDHA | c.1202C>G (p.Pro401Arg) c.1211C>G (p.Pro404Arg) c.1304C>G (p.Pro435Arg) c.62-30C>G c.922+1775C>G (n.922+1775C>G) c.1199C>G (p.Pro400Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424472C>T | CA9461404 | BCKDHA | c.1202C>T (p.Pro401Leu) c.1211C>T (p.Pro404Leu) c.1304C>T (p.Pro435Leu) c.62-30C>T c.922+1775C>T (n.922+1775C>T) c.1199C>T (p.Pro400Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41424473C>A | CA507560664 | BCKDHA | c.1203C>A (p.Pro401=) c.1212C>A (p.Pro404=) c.1305C>A (p.Pro435=) c.62-29C>A c.922+1776C>A (n.922+1776C>A) c.1200C>A (p.Pro400=) | |
19 | g.41424473C>G | CA507560665 | BCKDHA | c.1203C>G (p.Pro401=) c.1212C>G (p.Pro404=) c.1305C>G (p.Pro435=) c.62-29C>G c.922+1776C>G (n.922+1776C>G) c.1200C>G (p.Pro400=) | ClinVar dbSNP |
19 | g.41424473C>T | CA507560666 | BCKDHA | c.1203C>T (p.Pro401=) c.1212C>T (p.Pro404=) c.1305C>T (p.Pro435=) c.62-29C>T c.922+1776C>T (n.922+1776C>T) c.1200C>T (p.Pro400=) | |
19 | g.41424474A>C | CA406015301 | BCKDHA | c.1204A>C (p.Lys402Gln) c.1213A>C (p.Lys405Gln) c.1306A>C (p.Lys436Gln) c.62-28A>C c.922+1777A>C (n.922+1777A>C) c.1201A>C (p.Lys401Gln) | |
19 | g.41424474A>G | CA406015299 | BCKDHA | c.1204A>G (p.Lys402Glu) c.1213A>G (p.Lys405Glu) c.1306A>G (p.Lys436Glu) c.62-28A>G c.922+1777A>G (n.922+1777A>G) c.1201A>G (p.Lys401Glu) | |
19 | g.41424474A>T | CA406015298 | BCKDHA | c.1204A>T (p.Lys402Ter) c.1213A>T (p.Lys405Ter) c.1306A>T (p.Lys436Ter) c.62-28A>T c.922+1777A>T (n.922+1777A>T) c.1201A>T (p.Lys401Ter) | |
19 | g.41424475A>C | CA406015304 | BCKDHA | c.1205A>C (p.Lys402Thr) c.1214A>C (p.Lys405Thr) c.1307A>C (p.Lys436Thr) c.62-27A>C c.922+1778A>C (n.922+1778A>C) c.1202A>C (p.Lys401Thr) | |
19 | g.41424475A>G | CA406015305 | BCKDHA | c.1205A>G (p.Lys402Arg) c.1214A>G (p.Lys405Arg) c.1307A>G (p.Lys436Arg) c.62-27A>G c.922+1778A>G (n.922+1778A>G) c.1202A>G (p.Lys401Arg) | |
19 | g.41424475A>T | CA406015307 | BCKDHA | c.1205A>T (p.Lys402Ile) c.1214A>T (p.Lys405Ile) c.1307A>T (p.Lys436Ile) c.62-27A>T c.922+1778A>T (n.922+1778A>T) c.1202A>T (p.Lys401Ile) | |
19 | g.41424476A>C | CA406015310 | BCKDHA | c.1206A>C (p.Lys402Asn) c.1215A>C (p.Lys405Asn) c.1308A>C (p.Lys436Asn) c.62-26A>C c.922+1779A>C (n.922+1779A>C) c.1203A>C (p.Lys401Asn) | |
19 | g.41424476A>G | CA507560667 | BCKDHA | c.1206A>G (p.Lys402=) c.1215A>G (p.Lys405=) c.1308A>G (p.Lys436=) c.62-26A>G c.922+1779A>G (n.922+1779A>G) c.1203A>G (p.Lys401=) | |
19 | g.41424476A>T | CA406015311 | BCKDHA | c.1206A>T (p.Lys402Asn) c.1215A>T (p.Lys405Asn) c.1308A>T (p.Lys436Asn) c.62-26A>T c.922+1779A>T (n.922+1779A>T) c.1203A>T (p.Lys401Asn) | |
19 | g.41424477C>A | CA406015314 | BCKDHA | c.1207C>A (p.Pro403Thr) c.1216C>A (p.Pro406Thr) c.1309C>A (p.Pro437Thr) c.62-25C>A c.922+1780C>A (n.922+1780C>A) c.1204C>A (p.Pro402Thr) | |
19 | g.41424477C>G | CA406015315 | BCKDHA | c.1207C>G (p.Pro403Ala) c.1216C>G (p.Pro406Ala) c.1309C>G (p.Pro437Ala) c.62-25C>G c.922+1780C>G (n.922+1780C>G) c.1204C>G (p.Pro402Ala) | gnomAD v4 |
19 | g.41424477C>T | CA406015317 | BCKDHA | c.1207C>T (p.Pro403Ser) c.1216C>T (p.Pro406Ser) c.1309C>T (p.Pro437Ser) c.62-25C>T c.922+1780C>T (n.922+1780C>T) c.1204C>T (p.Pro402Ser) | |
19 | g.41424479del | CA2735930073 | BCKDHA | c.1209del (p.Asn404ThrfsTer?) c.1218del (p.Asn407ThrfsTer?) c.1311del (p.Asn438ThrfsTer?) c.62-23del c.922+1782del (n.922+1782del) c.1206del (p.Asn403ThrfsTer?) | dbSNP |
19 | g.41424484_41424489dup | CA658820662 | BCKDHA | c.1214_1219dup (p.Asn406_Leu407insProAsn) c.1223_1228dup (p.Asn409_Leu410insProAsn) c.1316_1321dup (p.Asn440_Leu441insProAsn) c.62-18_62-13dup c.922+1787_922+1792dup (n.922+1787_922+1792dup) c.1211_1216dup (p.Asn405_Leu406insProAsn) | |
19 | g.41424478C>A | CA406015320 | BCKDHA | c.1208C>A (p.Pro403His) c.1217C>A (p.Pro406His) c.1310C>A (p.Pro437His) c.62-24C>A c.922+1781C>A (n.922+1781C>A) c.1205C>A (p.Pro402His) | |
19 | g.41424478C= | CA2336460034 | BCKDHA | c.1208C= (p.Pro403=) c.1217C= (p.Pro406=) c.1310C= (p.Pro437=) c.62-24C= c.922+1781C= (n.922+1781C=) c.1205C= (p.Pro402=) | |
19 | g.41424478C>G | CA9461405 | BCKDHA | c.1208C>G (p.Pro403Arg) c.1217C>G (p.Pro406Arg) c.1310C>G (p.Pro437Arg) c.62-24C>G c.922+1781C>G (n.922+1781C>G) c.1205C>G (p.Pro402Arg) | dbSNP ExAC gnomAD v2 |
19 | g.41424478C>T | CA406015322 | BCKDHA | c.1208C>T (p.Pro403Leu) c.1217C>T (p.Pro406Leu) c.1310C>T (p.Pro437Leu) c.62-24C>T c.922+1781C>T (n.922+1781C>T) c.1205C>T (p.Pro402Leu) | dbSNP |
19 | g.41424479C>A | CA507560668 | BCKDHA | c.1209C>A (p.Pro403=) c.1218C>A (p.Pro406=) c.1311C>A (p.Pro437=) c.62-23C>A c.922+1782C>A (n.922+1782C>A) c.1206C>A (p.Pro402=) | |
19 | g.41424479C= | CA2336460035 | BCKDHA | c.1209C= (p.Pro403=) c.1218C= (p.Pro406=) c.1311C= (p.Pro437=) c.62-23C= c.922+1782C= (n.922+1782C=) c.1206C= (p.Pro402=) | |
19 | g.41424479C>G | CA507560669 | BCKDHA | c.1209C>G (p.Pro403=) c.1218C>G (p.Pro406=) c.1311C>G (p.Pro437=) c.62-23C>G c.922+1782C>G (n.922+1782C>G) c.1206C>G (p.Pro402=) | ClinVar gnomAD v4 |
19 | g.41424479C>T | CA308527909 | BCKDHA | c.1209C>T (p.Pro403=) c.1218C>T (p.Pro406=) c.1311C>T (p.Pro437=) c.62-23C>T c.922+1782C>T (n.922+1782C>T) c.1206C>T (p.Pro402=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424480A= | CA2336460036 | BCKDHA | c.1210A= (p.Asn404=) c.1219A= (p.Asn407=) c.1312A= (p.Asn438=) c.62-22A= c.922+1783A= (n.922+1783A=) c.1207A= (p.Asn403=) | |
19 | g.41424480A>C | CA406015328 | BCKDHA | c.1210A>C (p.Asn404His) c.1219A>C (p.Asn407His) c.1312A>C (p.Asn438His) c.62-22A>C c.922+1783A>C (n.922+1783A>C) c.1207A>C (p.Asn403His) | |
19 | g.41424480A>G | CA406015330 | BCKDHA | c.1210A>G (p.Asn404Asp) c.1219A>G (p.Asn407Asp) c.1312A>G (p.Asn438Asp) c.62-22A>G c.922+1783A>G (n.922+1783A>G) c.1207A>G (p.Asn403Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424480A>T | CA406015326 | BCKDHA | c.1210A>T (p.Asn404Tyr) c.1219A>T (p.Asn407Tyr) c.1312A>T (p.Asn438Tyr) c.62-22A>T c.922+1783A>T (n.922+1783A>T) c.1207A>T (p.Asn403Tyr) | |
19 | g.41424481A= | CA2336460037 | BCKDHA | c.1211A= (p.Asn404=) c.1220A= (p.Asn407=) c.1313A= (p.Asn438=) c.62-21A= c.922+1784A= (n.922+1784A=) c.1208A= (p.Asn403=) | |
19 | g.41424481A>C | CA406015335 | BCKDHA | c.1211A>C (p.Asn404Thr) c.1220A>C (p.Asn407Thr) c.1313A>C (p.Asn438Thr) c.62-21A>C c.922+1784A>C (n.922+1784A>C) c.1208A>C (p.Asn403Thr) | |
19 | g.41424481A>G | CA9461406 | BCKDHA | c.1211A>G (p.Asn404Ser) c.1220A>G (p.Asn407Ser) c.1313A>G (p.Asn438Ser) c.62-21A>G c.922+1784A>G (n.922+1784A>G) c.1208A>G (p.Asn403Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424481A>T | CA406015333 | BCKDHA | c.1211A>T (p.Asn404Ile) c.1220A>T (p.Asn407Ile) c.1313A>T (p.Asn438Ile) c.62-21A>T c.922+1784A>T (n.922+1784A>T) c.1208A>T (p.Asn403Ile) | |
19 | g.41424482C>A | CA406015337 | BCKDHA | c.1212C>A (p.Asn404Lys) c.1221C>A (p.Asn407Lys) c.1314C>A (p.Asn438Lys) c.62-20C>A c.922+1785C>A (n.922+1785C>A) c.1209C>A (p.Asn403Lys) | gnomAD v4 |
19 | g.41424482C= | CA2336460038 | BCKDHA | c.1212C= (p.Asn404=) c.1221C= (p.Asn407=) c.1314C= (p.Asn438=) c.62-20C= c.922+1785C= (n.922+1785C=) c.1209C= (p.Asn403=) | |
19 | g.41424482C>G | CA406015338 | BCKDHA | c.1212C>G (p.Asn404Lys) c.1221C>G (p.Asn407Lys) c.1314C>G (p.Asn438Lys) c.62-20C>G c.922+1785C>G (n.922+1785C>G) c.1209C>G (p.Asn403Lys) | |
19 | g.41424482C>T | CA308527915 | BCKDHA | c.1212C>T (p.Asn404=) c.1221C>T (p.Asn407=) c.1314C>T (p.Asn438=) c.62-20C>T c.922+1785C>T (n.922+1785C>T) c.1209C>T (p.Asn403=) | dbSNP |
19 | g.41424485del | CA2585308446 | BCKDHA | c.1215del (p.Asn406ThrfsTer?) c.1224del (p.Asn409ThrfsTer?) c.1317del (p.Asn440ThrfsTer?) c.62-17del c.922+1788del (n.922+1788del) c.1212del (p.Asn405ThrfsTer?) | gnomAD v4 |
19 | g.41424483C>A | CA406015340 | BCKDHA | c.1213C>A (p.Pro405Thr) c.1222C>A (p.Pro408Thr) c.1315C>A (p.Pro439Thr) c.62-19C>A c.922+1786C>A (n.922+1786C>A) c.1210C>A (p.Pro404Thr) | |
19 | g.41424483C>G | CA406015342 | BCKDHA | c.1213C>G (p.Pro405Ala) c.1222C>G (p.Pro408Ala) c.1315C>G (p.Pro439Ala) c.62-19C>G c.922+1786C>G (n.922+1786C>G) c.1210C>G (p.Pro404Ala) | |
19 | g.41424483C>T | CA406015343 | BCKDHA | c.1213C>T (p.Pro405Ser) c.1222C>T (p.Pro408Ser) c.1315C>T (p.Pro439Ser) c.62-19C>T c.922+1786C>T (n.922+1786C>T) c.1210C>T (p.Pro404Ser) | |
19 | g.41424484C>A | CA406015344 | BCKDHA | c.1214C>A (p.Pro405His) c.1223C>A (p.Pro408His) c.1316C>A (p.Pro439His) c.62-18C>A c.922+1787C>A (n.922+1787C>A) c.1211C>A (p.Pro404His) | |
19 | g.41424484C= | CA2336460039 | BCKDHA | c.1214C= (p.Pro405=) c.1223C= (p.Pro408=) c.1316C= (p.Pro439=) c.62-18C= c.922+1787C= (n.922+1787C=) c.1211C= (p.Pro404=) | |
19 | g.41424484C>G | CA406015345 | BCKDHA | c.1214C>G (p.Pro405Arg) c.1223C>G (p.Pro408Arg) c.1316C>G (p.Pro439Arg) c.62-18C>G c.922+1787C>G (n.922+1787C>G) c.1211C>G (p.Pro404Arg) | |
19 | g.41424484C>T | CA406015346 | BCKDHA | c.1214C>T (p.Pro405Leu) c.1223C>T (p.Pro408Leu) c.1316C>T (p.Pro439Leu) c.62-18C>T c.922+1787C>T (n.922+1787C>T) c.1211C>T (p.Pro404Leu) | dbSNP |
19 | g.41424485C>A | CA507560672 | BCKDHA | c.1215C>A (p.Pro405=) c.1224C>A (p.Pro408=) c.1317C>A (p.Pro439=) c.62-17C>A c.922+1788C>A (n.922+1788C>A) c.1212C>A (p.Pro404=) | ClinVar dbSNP |
19 | g.41424485C>G | CA507560670 | BCKDHA | c.1215C>G (p.Pro405=) c.1224C>G (p.Pro408=) c.1317C>G (p.Pro439=) c.62-17C>G c.922+1788C>G (n.922+1788C>G) c.1212C>G (p.Pro404=) | |
19 | g.41424485C>T | CA507560671 | BCKDHA | c.1215C>T (p.Pro405=) c.1224C>T (p.Pro408=) c.1317C>T (p.Pro439=) c.62-17C>T c.922+1788C>T (n.922+1788C>T) c.1212C>T (p.Pro404=) | gnomAD v4 |
19 | g.41424486A>C | CA406015347 | BCKDHA | c.1216A>C (p.Asn406His) c.1225A>C (p.Asn409His) c.1318A>C (p.Asn440His) c.62-16A>C c.922+1789A>C (n.922+1789A>C) c.1213A>C (p.Asn405His) | |
19 | g.41424486A>G | CA406015348 | BCKDHA | c.1216A>G (p.Asn406Asp) c.1225A>G (p.Asn409Asp) c.1318A>G (p.Asn440Asp) c.62-16A>G c.922+1789A>G (n.922+1789A>G) c.1213A>G (p.Asn405Asp) | |
19 | g.41424486A>T | CA406015349 | BCKDHA | c.1216A>T (p.Asn406Tyr) c.1225A>T (p.Asn409Tyr) c.1318A>T (p.Asn440Tyr) c.62-16A>T c.922+1789A>T (n.922+1789A>T) c.1213A>T (p.Asn405Tyr) | |
19 | g.41424487A= | CA2336460040 | BCKDHA | c.1217A= (p.Asn406=) c.1226A= (p.Asn409=) c.1319A= (p.Asn440=) c.62-15A= c.922+1790A= (n.922+1790A=) c.1214A= (p.Asn405=) | |
19 | g.41424487A>C | CA406015350 | BCKDHA | c.1217A>C (p.Asn406Thr) c.1226A>C (p.Asn409Thr) c.1319A>C (p.Asn440Thr) c.62-15A>C c.922+1790A>C (n.922+1790A>C) c.1214A>C (p.Asn405Thr) | |
19 | g.41424487A>G | CA9461407 | BCKDHA | c.1217A>G (p.Asn406Ser) c.1226A>G (p.Asn409Ser) c.1319A>G (p.Asn440Ser) c.62-15A>G c.922+1790A>G (n.922+1790A>G) c.1214A>G (p.Asn405Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424487A>T | CA406015351 | BCKDHA | c.1217A>T (p.Asn406Ile) c.1226A>T (p.Asn409Ile) c.1319A>T (p.Asn440Ile) c.62-15A>T c.922+1790A>T (n.922+1790A>T) c.1214A>T (p.Asn405Ile) | |
19 | g.41424488C>A | CA406015352 | BCKDHA | c.1218C>A (p.Asn406Lys) c.1227C>A (p.Asn409Lys) c.1320C>A (p.Asn440Lys) c.62-14C>A c.922+1791C>A (n.922+1791C>A) c.1215C>A (p.Asn405Lys) | |
19 | g.41424488C>G | CA406015353 | BCKDHA | c.1218C>G (p.Asn406Lys) c.1227C>G (p.Asn409Lys) c.1320C>G (p.Asn440Lys) c.62-14C>G c.922+1791C>G (n.922+1791C>G) c.1215C>G (p.Asn405Lys) | |
19 | g.41424488C>T | CA507560673 | BCKDHA | c.1218C>T (p.Asn406=) c.1227C>T (p.Asn409=) c.1320C>T (p.Asn440=) c.62-14C>T c.922+1791C>T (n.922+1791C>T) c.1215C>T (p.Asn405=) | ClinVar |
19 | g.41424489C>A | CA406015354 | BCKDHA | c.1219C>A (p.Leu407Ile) c.1228C>A (p.Leu410Ile) c.1321C>A (p.Leu441Ile) c.62-13C>A c.922+1792C>A (n.922+1792C>A) c.1216C>A (p.Leu406Ile) | |
19 | g.41424489C>G | CA406015355 | BCKDHA | c.1219C>G (p.Leu407Val) c.1228C>G (p.Leu410Val) c.1321C>G (p.Leu441Val) c.62-13C>G c.922+1792C>G (n.922+1792C>G) c.1216C>G (p.Leu406Val) | |
19 | g.41424489C>T | CA507560674 | BCKDHA | c.1219C>T (p.Leu407=) c.1228C>T (p.Leu410=) c.1321C>T (p.Leu441=) c.62-13C>T c.922+1792C>T (n.922+1792C>T) c.1216C>T (p.Leu406=) | |
19 | g.41424490T>A | CA406015356 | BCKDHA | c.1220T>A (p.Leu407Gln) c.1229T>A (p.Leu410Gln) c.1322T>A (p.Leu441Gln) c.62-12T>A c.922+1793T>A (n.922+1793T>A) c.1217T>A (p.Leu406Gln) | |
19 | g.41424490T>C | CA406015357 | BCKDHA | c.1220T>C (p.Leu407Pro) c.1229T>C (p.Leu410Pro) c.1322T>C (p.Leu441Pro) c.62-12T>C c.922+1793T>C (n.922+1793T>C) c.1217T>C (p.Leu406Pro) | |
19 | g.41424490T>G | CA406015358 | BCKDHA | c.1220T>G (p.Leu407Arg) c.1229T>G (p.Leu410Arg) c.1322T>G (p.Leu441Arg) c.62-12T>G c.922+1793T>G (n.922+1793T>G) c.1217T>G (p.Leu406Arg) | |
19 | g.41424491A= | CA2336460041 | BCKDHA | c.1221A= (p.Leu407=) c.1230A= (p.Leu410=) c.1323A= (p.Leu441=) c.62-11A= c.922+1794A= (n.922+1794A=) c.1218A= (p.Leu406=) | |
19 | g.41424491A>C | CA507560675 | BCKDHA | c.1221A>C (p.Leu407=) c.1230A>C (p.Leu410=) c.1323A>C (p.Leu441=) c.62-11A>C c.922+1794A>C (n.922+1794A>C) c.1218A>C (p.Leu406=) | |
19 | g.41424491A>G | CA146869 | BCKDHA | c.1221A>G (p.Leu407=) c.1230A>G (p.Leu410=) c.1323A>G (p.Leu441=) c.62-11A>G c.922+1794A>G (n.922+1794A>G) c.1218A>G (p.Leu406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424491A>T | CA507560676 | BCKDHA | c.1221A>T (p.Leu407=) c.1230A>T (p.Leu410=) c.1323A>T (p.Leu441=) c.62-11A>T c.922+1794A>T (n.922+1794A>T) c.1218A>T (p.Leu406=) | gnomAD v4 |
19 | g.41424492C>A | CA406015359 | BCKDHA | c.1222C>A (p.Leu408Ile) c.1231C>A (p.Leu411Ile) c.1324C>A (p.Leu442Ile) c.62-10C>A c.922+1795C>A (n.922+1795C>A) c.1219C>A (p.Leu407Ile) | |
19 | g.41424492C= | CA2336460042 | BCKDHA | c.1222C= (p.Leu408=) c.1231C= (p.Leu411=) c.1324C= (p.Leu442=) c.62-10C= c.922+1795C= (n.922+1795C=) c.1219C= (p.Leu407=) | |
19 | g.41424492C>G | CA406015360 | BCKDHA | c.1222C>G (p.Leu408Val) c.1231C>G (p.Leu411Val) c.1324C>G (p.Leu442Val) c.62-10C>G c.922+1795C>G (n.922+1795C>G) c.1219C>G (p.Leu407Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41424492C>T | CA406015361 | BCKDHA | c.1222C>T (p.Leu408Phe) c.1231C>T (p.Leu411Phe) c.1324C>T (p.Leu442Phe) c.62-10C>T c.922+1795C>T (n.922+1795C>T) c.1219C>T (p.Leu407Phe) | gnomAD v4 |
19 | g.41424493T>A | CA406015363 | BCKDHA | c.1223T>A (p.Leu408His) c.1232T>A (p.Leu411His) c.1325T>A (p.Leu442His) c.62-9T>A c.922+1796T>A (n.922+1796T>A) c.1220T>A (p.Leu407His) | |
19 | g.41424493T>C | CA406015364 | BCKDHA | c.1223T>C (p.Leu408Pro) c.1232T>C (p.Leu411Pro) c.1325T>C (p.Leu442Pro) c.62-9T>C c.922+1796T>C (n.922+1796T>C) c.1220T>C (p.Leu407Pro) | |
19 | g.41424493T>G | CA406015362 | BCKDHA | c.1223T>G (p.Leu408Arg) c.1232T>G (p.Leu411Arg) c.1325T>G (p.Leu442Arg) c.62-9T>G c.922+1796T>G (n.922+1796T>G) c.1220T>G (p.Leu407Arg) | |
19 | g.41424494C>A | CA507560677 | BCKDHA | c.1224C>A (p.Leu408=) c.1233C>A (p.Leu411=) c.1326C>A (p.Leu442=) c.62-8C>A c.922+1797C>A (n.922+1797C>A) c.1221C>A (p.Leu407=) | |
19 | g.41424494C= | CA2336460043 | BCKDHA | c.1224C= (p.Leu408=) c.1233C= (p.Leu411=) c.1326C= (p.Leu442=) c.62-8C= c.922+1797C= (n.922+1797C=) c.1221C= (p.Leu407=) | |
19 | g.41424494C>G | CA507560678 | BCKDHA | c.1224C>G (p.Leu408=) c.1233C>G (p.Leu411=) c.1326C>G (p.Leu442=) c.62-8C>G c.922+1797C>G (n.922+1797C>G) c.1221C>G (p.Leu407=) | dbSNP |
19 | g.41424494C>T | CA9461408 | BCKDHA | c.1224C>T (p.Leu408=) c.1233C>T (p.Leu411=) c.1326C>T (p.Leu442=) c.62-8C>T c.922+1797C>T (n.922+1797C>T) c.1221C>T (p.Leu407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424495T>A | CA406015365 | BCKDHA | c.1225T>A (p.Phe409Ile) c.1234T>A (p.Phe412Ile) c.1327T>A (p.Phe443Ile) c.62-7T>A c.922+1798T>A (n.922+1798T>A) c.1222T>A (p.Phe408Ile) | |
19 | g.41424495T>C | CA406015366 | BCKDHA | c.1225T>C (p.Phe409Leu) c.1234T>C (p.Phe412Leu) c.1327T>C (p.Phe443Leu) c.62-7T>C c.922+1798T>C (n.922+1798T>C) c.1222T>C (p.Phe408Leu) | |
19 | g.41424495T>G | CA406015367 | BCKDHA | c.1225T>G (p.Phe409Val) c.1234T>G (p.Phe412Val) c.1327T>G (p.Phe443Val) c.62-7T>G c.922+1798T>G (n.922+1798T>G) c.1222T>G (p.Phe408Val) | |
19 | g.41424496T>A | CA406015368 | BCKDHA | c.1226T>A (p.Phe409Tyr) c.1235T>A (p.Phe412Tyr) c.1328T>A (p.Phe443Tyr) c.62-6T>A c.922+1799T>A (n.922+1799T>A) c.1223T>A (p.Phe408Tyr) | |
19 | g.41424496T>C | CA406015369 | BCKDHA | c.1226T>C (p.Phe409Ser) c.1235T>C (p.Phe412Ser) c.1328T>C (p.Phe443Ser) c.62-6T>C c.922+1799T>C (n.922+1799T>C) c.1223T>C (p.Phe408Ser) | |
19 | g.41424496T>G | CA115510 | BCKDHA | c.1226T>G (p.Phe409Cys) c.1235T>G (p.Phe412Cys) c.1328T>G (p.Phe443Cys) c.62-6T>G c.922+1799T>G (n.922+1799T>G) c.1223T>G (p.Phe408Cys) | ClinVar dbSNP |
19 | g.41424496T= | CA2336460044 | BCKDHA | c.1226T= (p.Phe409=) c.1235T= (p.Phe412=) c.1328T= (p.Phe443=) c.62-6T= c.922+1799T= (n.922+1799T=) c.1223T= (p.Phe408=) | |
19 | g.41424497C>A | CA406015370 | BCKDHA | c.1227C>A (p.Phe409Leu) c.1236C>A (p.Phe412Leu) c.1329C>A (p.Phe443Leu) c.62-5C>A c.922+1800C>A (n.922+1800C>A) c.1224C>A (p.Phe408Leu) | gnomAD v4 |
19 | g.41424497C= | CA2336460045 | BCKDHA | c.1227C= (p.Phe409=) c.1236C= (p.Phe412=) c.1329C= (p.Phe443=) c.62-5C= c.922+1800C= (n.922+1800C=) c.1224C= (p.Phe408=) | |
19 | g.41424497C>G | CA406015371 | BCKDHA | c.1227C>G (p.Phe409Leu) c.1236C>G (p.Phe412Leu) c.1329C>G (p.Phe443Leu) c.62-5C>G c.922+1800C>G (n.922+1800C>G) c.1224C>G (p.Phe408Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.41424497C>T | CA507560679 | BCKDHA | c.1227C>T (p.Phe409=) c.1236C>T (p.Phe412=) c.1329C>T (p.Phe443=) c.62-5C>T c.922+1800C>T (n.922+1800C>T) c.1224C>T (p.Phe408=) | dbSNP |
19 | g.41424497_41424499del | CA2695228771 | BCKDHA | c.1227_1229del (p.Phe409_Ser410delinsLeu) c.1236_1238del (p.Phe412_Ser413delinsLeu) c.1329_1331del (p.Phe443_Ser444delinsLeu) c.62-5_62-3del c.922+1800_922+1802del (n.922+1800_922+1802del) c.1224_1226del (p.Phe408_Ser409delinsLeu) | |
19 | g.41424498T>A | CA406015372 | BCKDHA | c.1228T>A (p.Ser410Thr) c.1237T>A (p.Ser413Thr) c.1330T>A (p.Ser444Thr) c.62-4T>A c.922+1801T>A (n.922+1801T>A) c.1225T>A (p.Ser409Thr) | |
19 | g.41424498T>C | CA406015373 | BCKDHA | c.1228T>C (p.Ser410Pro) c.1237T>C (p.Ser413Pro) c.1330T>C (p.Ser444Pro) c.62-4T>C c.922+1801T>C (n.922+1801T>C) c.1225T>C (p.Ser409Pro) | |
19 | g.41424498T>G | CA406015375 | BCKDHA | c.1228T>G (p.Ser410Ala) c.1237T>G (p.Ser413Ala) c.1330T>G (p.Ser444Ala) c.62-4T>G c.922+1801T>G (n.922+1801T>G) c.1225T>G (p.Ser409Ala) | |
19 | g.41424499C>A | CA406015377 | BCKDHA | c.1229C>A (p.Ser410Ter) c.1238C>A (p.Ser413Ter) c.1331C>A (p.Ser444Ter) c.62-3C>A c.922+1802C>A (n.922+1802C>A) c.1226C>A (p.Ser409Ter) | |
19 | g.41424499C= | CA2336460046 | BCKDHA | c.1229C= (p.Ser410=) c.1238C= (p.Ser413=) c.1331C= (p.Ser444=) c.62-3C= c.922+1802C= (n.922+1802C=) c.1226C= (p.Ser409=) | |
19 | g.41424499C>G | CA406015378 | BCKDHA | c.1229C>G (p.Ser410Ter) c.1238C>G (p.Ser413Ter) c.1331C>G (p.Ser444Ter) c.62-3C>G c.922+1802C>G (n.922+1802C>G) c.1226C>G (p.Ser409Ter) | |
19 | g.41424499C>T | CA9461409 | BCKDHA | c.1229C>T (p.Ser410Leu) c.1238C>T (p.Ser413Leu) c.1331C>T (p.Ser444Leu) c.62-3C>T c.922+1802C>T (n.922+1802C>T) c.1226C>T (p.Ser409Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41424500A>C | CA507560680 | BCKDHA | c.1230A>C (p.Ser410=) c.1239A>C (p.Ser413=) c.1332A>C (p.Ser444=) c.62-2A>C c.922+1803A>C (n.922+1803A>C) c.1227A>C (p.Ser409=) | gnomAD v4 |
19 | g.41424500A>G | CA507560681 | BCKDHA | c.1230A>G (p.Ser410=) c.1239A>G (p.Ser413=) c.1332A>G (p.Ser444=) c.62-2A>G c.922+1803A>G (n.922+1803A>G) c.1227A>G (p.Ser409=) | gnomAD v4 |
19 | g.41424500A>T | CA507560682 | BCKDHA | c.1230A>T (p.Ser410=) c.1239A>T (p.Ser413=) c.1332A>T (p.Ser444=) c.62-2A>T c.922+1803A>T (n.922+1803A>T) c.1227A>T (p.Ser409=) | |
19 | g.41424500dup | CA2336460047 | BCKDHA | c.1230dup (p.Asp411ArgfsTer?) c.1239dup (p.Asp414ArgfsTer?) c.1332dup (p.Asp445ArgfsTer?) c.62-2dup c.922+1803dup (n.922+1803dup) c.1227dup (p.Asp410ArgfsTer?) | dbSNP |
19 | g.41424501G>A | CA406015379 | BCKDHA | c.1231G>A (p.Asp411Asn) c.1240G>A (p.Asp414Asn) c.1333G>A (p.Asp445Asn) c.62-1G>A c.922+1804G>A (n.922+1804G>A) c.1228G>A (p.Asp410Asn) | |
19 | g.41424501G>C | CA406015380 | BCKDHA | c.1231G>C (p.Asp411His) c.1240G>C (p.Asp414His) c.1333G>C (p.Asp445His) c.62-1G>C c.922+1804G>C (n.922+1804G>C) c.1228G>C (p.Asp410His) | |
19 | g.41424501G>T | CA406015381 | BCKDHA | c.1231G>T (p.Asp411Tyr) c.1240G>T (p.Asp414Tyr) c.1333G>T (p.Asp445Tyr) c.62-1G>T c.922+1804G>T (n.922+1804G>T) c.1228G>T (p.Asp410Tyr) | |
19 | g.41424502A>C | CA406015382 | BCKDHA | c.1232A>C (p.Asp411Ala) c.1241A>C (p.Asp414Ala) c.1334A>C (p.Asp445Ala) c.62A>C c.922+1805A>C (n.922+1805A>C) c.1229A>C (p.Asp410Ala) | |
19 | g.41424502A>G | CA406015383 | BCKDHA | c.1232A>G (p.Asp411Gly) c.1241A>G (p.Asp414Gly) c.1334A>G (p.Asp445Gly) c.62A>G c.922+1805A>G (n.922+1805A>G) c.1229A>G (p.Asp410Gly) | |
19 | g.41424502A>T | CA406015384 | BCKDHA | c.1232A>T (p.Asp411Val) c.1241A>T (p.Asp414Val) c.1334A>T (p.Asp445Val) c.62A>T c.922+1805A>T (n.922+1805A>T) c.1229A>T (p.Asp410Val) | |
19 | g.41424503C>A | CA406015386 | BCKDHA | c.1233C>A (p.Asp411Glu) c.1242C>A (p.Asp414Glu) c.1335C>A (p.Asp445Glu) c.63C>A c.922+1806C>A (n.922+1806C>A) c.1230C>A (p.Asp410Glu) | |
19 | g.41424503C= | CA2336460048 | BCKDHA | c.1233C= (p.Asp411=) c.1242C= (p.Asp414=) c.1335C= (p.Asp445=) c.63C= c.922+1806C= (n.922+1806C=) c.1230C= (p.Asp410=) | |
19 | g.41424503C>G | CA406015385 | BCKDHA | c.1233C>G (p.Asp411Glu) c.1242C>G (p.Asp414Glu) c.1335C>G (p.Asp445Glu) c.63C>G c.922+1806C>G (n.922+1806C>G) c.1230C>G (p.Asp410Glu) | |
19 | g.41424503C>T | CA9461410 | BCKDHA | c.1233C>T (p.Asp411=) c.1242C>T (p.Asp414=) c.1335C>T (p.Asp445=) c.63C>T c.922+1806C>T (n.922+1806C>T) c.1230C>T (p.Asp410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424504G>A | CA221182 | BCKDHA | c.1234G>A (p.Val412Met) c.1243G>A (p.Val415Met) c.1336G>A (p.Val446Met) c.64G>A c.922+1807G>A (n.922+1807G>A) c.1231G>A (p.Val411Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424504G>C | CA406015387 | BCKDHA | c.1234G>C (p.Val412Leu) c.1243G>C (p.Val415Leu) c.1336G>C (p.Val446Leu) c.64G>C c.922+1807G>C (n.922+1807G>C) c.1231G>C (p.Val411Leu) | |
19 | g.41424504G= | CA2336460049 | BCKDHA | c.1234G= (p.Val412=) c.1243G= (p.Val415=) c.1336G= (p.Val446=) c.64G= c.922+1807G= (n.922+1807G=) c.1231G= (p.Val411=) | |
19 | g.41424504G>T | CA406015388 | BCKDHA | c.1234G>T (p.Val412Leu) c.1243G>T (p.Val415Leu) c.1336G>T (p.Val446Leu) c.64G>T c.922+1807G>T (n.922+1807G>T) c.1231G>T (p.Val411Leu) | |
19 | g.41424505T>A | CA406015389 | BCKDHA | c.1235T>A (p.Val412Glu) c.1244T>A (p.Val415Glu) c.1337T>A (p.Val446Glu) c.65T>A c.922+1808T>A (n.922+1808T>A) c.1232T>A (p.Val411Glu) | |
19 | g.41424505T>C | CA406015390 | BCKDHA | c.1235T>C (p.Val412Ala) c.1244T>C (p.Val415Ala) c.1337T>C (p.Val446Ala) c.65T>C c.922+1808T>C (n.922+1808T>C) c.1232T>C (p.Val411Ala) | COSMIC |
19 | g.41424505T>G | CA406015391 | BCKDHA | c.1235T>G (p.Val412Gly) c.1244T>G (p.Val415Gly) c.1337T>G (p.Val446Gly) c.65T>G c.922+1808T>G (n.922+1808T>G) c.1232T>G (p.Val411Gly) | |
19 | g.41424506G>A | CA507560683 | BCKDHA | c.1236G>A (p.Val412=) c.1245G>A (p.Val415=) c.1338G>A (p.Val446=) c.66G>A c.922+1809G>A (n.922+1809G>A) c.1233G>A (p.Val411=) | |
19 | g.41424506G>C | CA507560684 | BCKDHA | c.1236G>C (p.Val412=) c.1245G>C (p.Val415=) c.1338G>C (p.Val446=) c.66G>C c.922+1809G>C (n.922+1809G>C) c.1233G>C (p.Val411=) | ClinVar dbSNP |
19 | g.41424506G>T | CA507560685 | BCKDHA | c.1236G>T (p.Val412=) c.1245G>T (p.Val415=) c.1338G>T (p.Val446=) c.66G>T c.922+1809G>T (n.922+1809G>T) c.1233G>T (p.Val411=) | |
19 | g.41424507T>A | CA406015393 | BCKDHA | c.1237T>A (p.Tyr413Asn) c.1246T>A (p.Tyr416Asn) c.1339T>A (p.Tyr447Asn) c.67T>A c.922+1810T>A (n.922+1810T>A) c.1234T>A (p.Tyr412Asn) | |
19 | g.41424507T>C | CA406015394 | BCKDHA | c.1237T>C (p.Tyr413His) c.1246T>C (p.Tyr416His) c.1339T>C (p.Tyr447His) c.67T>C c.922+1810T>C (n.922+1810T>C) c.1234T>C (p.Tyr412His) | |
19 | g.41424507T>G | CA406015392 | BCKDHA | c.1237T>G (p.Tyr413Asp) c.1246T>G (p.Tyr416Asp) c.1339T>G (p.Tyr447Asp) c.67T>G c.922+1810T>G (n.922+1810T>G) c.1234T>G (p.Tyr412Asp) | |
19 | g.41424507dup | CA2585308447 | BCKDHA | c.1237dup (p.Tyr413LeufsTer?) c.1246dup (p.Tyr416LeufsTer?) c.1339dup (p.Tyr447LeufsTer?) c.67dup c.922+1810dup (n.922+1810dup) c.1234dup (p.Tyr412LeufsTer?) | ClinVar gnomAD v4 |
19 | g.41424508A>C | CA406015396 | BCKDHA | c.1238A>C (p.Tyr413Ser) c.1247A>C (p.Tyr416Ser) c.1340A>C (p.Tyr447Ser) c.68A>C c.922+1811A>C (n.922+1811A>C) c.1235A>C (p.Tyr412Ser) | |
19 | g.41424508A>G | CA406015395 | BCKDHA | c.1238A>G (p.Tyr413Cys) c.1247A>G (p.Tyr416Cys) c.1340A>G (p.Tyr447Cys) c.68A>G c.922+1811A>G (n.922+1811A>G) c.1235A>G (p.Tyr412Cys) | ClinVar gnomAD v4 |
19 | g.41424508A>T | CA406015397 | BCKDHA | c.1238A>T (p.Tyr413Phe) c.1247A>T (p.Tyr416Phe) c.1340A>T (p.Tyr447Phe) c.68A>T c.922+1811A>T (n.922+1811A>T) c.1235A>T (p.Tyr412Phe) | gnomAD v4 |
19 | g.41424509T>A | CA406015398 | BCKDHA | c.1239T>A (p.Tyr413Ter) c.1248T>A (p.Tyr416Ter) c.1341T>A (p.Tyr447Ter) c.69T>A c.922+1812T>A (n.922+1812T>A) c.1236T>A (p.Tyr412Ter) | |
19 | g.41424509T>C | CA507560686 | BCKDHA | c.1239T>C (p.Tyr413=) c.1248T>C (p.Tyr416=) c.1341T>C (p.Tyr447=) c.69T>C c.922+1812T>C (n.922+1812T>C) c.1236T>C (p.Tyr412=) | |
19 | g.41424509T>G | CA406015399 | BCKDHA | c.1239T>G (p.Tyr413Ter) c.1248T>G (p.Tyr416Ter) c.1341T>G (p.Tyr447Ter) c.69T>G c.922+1812T>G (n.922+1812T>G) c.1236T>G (p.Tyr412Ter) | COSMIC |
19 | g.41424510C>A | CA406015400 | BCKDHA | c.1240C>A (p.Gln414Lys) c.1249C>A (p.Gln417Lys) c.1342C>A (p.Gln448Lys) c.70C>A c.922+1813C>A (n.922+1813C>A) c.1237C>A (p.Gln413Lys) | |
19 | g.41424510C>G | CA406015401 | BCKDHA | c.1240C>G (p.Gln414Glu) c.1249C>G (p.Gln417Glu) c.1342C>G (p.Gln448Glu) c.70C>G c.922+1813C>G (n.922+1813C>G) c.1237C>G (p.Gln413Glu) | |
19 | g.41424510C>T | CA406015402 | BCKDHA | c.1240C>T (p.Gln414Ter) c.1249C>T (p.Gln417Ter) c.1342C>T (p.Gln448Ter) c.70C>T c.922+1813C>T (n.922+1813C>T) c.1237C>T (p.Gln413Ter) | |
19 | g.41424511A= | CA2336460050 | BCKDHA | c.1241A= (p.Gln414=) c.1250A= (p.Gln417=) c.1343A= (p.Gln448=) c.71A= c.922+1814A= (n.922+1814A=) c.1238A= (p.Gln413=) | |
19 | g.41424511A>C | CA9461411 | BCKDHA | c.1241A>C (p.Gln414Pro) c.1250A>C (p.Gln417Pro) c.1343A>C (p.Gln448Pro) c.71A>C c.922+1814A>C (n.922+1814A>C) c.1238A>C (p.Gln413Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41424511A>G | CA406015403 | BCKDHA | c.1241A>G (p.Gln414Arg) c.1250A>G (p.Gln417Arg) c.1343A>G (p.Gln448Arg) c.71A>G c.922+1814A>G (n.922+1814A>G) c.1238A>G (p.Gln413Arg) | gnomAD v4 |
19 | g.41424511A>T | CA406015404 | BCKDHA | c.1241A>T (p.Gln414Leu) c.1250A>T (p.Gln417Leu) c.1343A>T (p.Gln448Leu) c.71A>T c.922+1814A>T (n.922+1814A>T) c.1238A>T (p.Gln413Leu) | |
19 | g.41424512G>A | CA507560688 | BCKDHA | c.1242G>A (p.Gln414=) c.1251G>A (p.Gln417=) c.1344G>A (p.Gln448=) c.72G>A c.922+1815G>A (n.922+1815G>A) c.1239G>A (p.Gln413=) | |
19 | g.41424512G>C | CA406015405 | BCKDHA | c.1242G>C (p.Gln414His) c.1251G>C (p.Gln417His) c.1344G>C (p.Gln448His) c.72G>C c.922+1815G>C (n.922+1815G>C) c.1239G>C (p.Gln413His) | |
19 | g.41424512G>T | CA406015406 | BCKDHA | c.1242G>T (p.Gln414His) c.1251G>T (p.Gln417His) c.1344G>T (p.Gln448His) c.72G>T c.922+1815G>T (n.922+1815G>T) c.1239G>T (p.Gln413His) | |
19 | g.41424513G>A | CA9461412 | BCKDHA | c.1243G>A (p.Glu415Lys) c.1252G>A (p.Glu418Lys) c.1345G>A (p.Glu449Lys) c.73G>A c.922+1816G>A (n.922+1816G>A) c.1240G>A (p.Glu414Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41424513G>C | CA406015407 | BCKDHA | c.1243G>C (p.Glu415Gln) c.1252G>C (p.Glu418Gln) c.1345G>C (p.Glu449Gln) c.73G>C c.922+1816G>C (n.922+1816G>C) c.1240G>C (p.Glu414Gln) | |
19 | g.41424513G= | CA2336460051 | BCKDHA | c.1243G= (p.Glu415=) c.1252G= (p.Glu418=) c.1345G= (p.Glu449=) c.73G= c.922+1816G= (n.922+1816G=) c.1240G= (p.Glu414=) | |
19 | g.41424513G>T | CA406015408 | BCKDHA | c.1243G>T (p.Glu415Ter) c.1252G>T (p.Glu418Ter) c.1345G>T (p.Glu449Ter) c.73G>T c.922+1816G>T (n.922+1816G>T) c.1240G>T (p.Glu414Ter) | |
19 | g.41424514A>C | CA406015409 | BCKDHA | c.1244A>C (p.Glu415Ala) c.1253A>C (p.Glu418Ala) c.1346A>C (p.Glu449Ala) c.74A>C c.922+1817A>C (n.922+1817A>C) c.1241A>C (p.Glu414Ala) | |
19 | g.41424514A>G | CA406015410 | BCKDHA | c.1244A>G (p.Glu415Gly) c.1253A>G (p.Glu418Gly) c.1346A>G (p.Glu449Gly) c.74A>G c.922+1817A>G (n.922+1817A>G) c.1241A>G (p.Glu414Gly) | |
19 | g.41424514A>T | CA406015411 | BCKDHA | c.1244A>T (p.Glu415Val) c.1253A>T (p.Glu418Val) c.1346A>T (p.Glu449Val) c.74A>T c.922+1817A>T (n.922+1817A>T) c.1241A>T (p.Glu414Val) | dbSNP |
19 | g.41424515G>A | CA507560689 | BCKDHA | c.1245G>A (p.Glu415=) c.1254G>A (p.Glu418=) c.1347G>A (p.Glu449=) c.75G>A c.922+1818G>A (n.922+1818G>A) c.1242G>A (p.Glu414=) | |
19 | g.41424515G>C | CA406015412 | BCKDHA | c.1245G>C (p.Glu415Asp) c.1254G>C (p.Glu418Asp) c.1347G>C (p.Glu449Asp) c.75G>C c.922+1818G>C (n.922+1818G>C) c.1242G>C (p.Glu414Asp) | |
19 | g.41424515G>T | CA406015413 | BCKDHA | c.1245G>T (p.Glu415Asp) c.1254G>T (p.Glu418Asp) c.1347G>T (p.Glu449Asp) c.75G>T c.922+1818G>T (n.922+1818G>T) c.1242G>T (p.Glu414Asp) | |
19 | g.41424516A= | CA2336460052 | BCKDHA | c.1246A= (p.Met416=) c.1255A= (p.Met419=) c.1348A= (p.Met450=) c.76A= c.922+1819A= (n.922+1819A=) c.1243A= (p.Met415=) | |
19 | g.41424516A>C | CA406015414 | BCKDHA | c.1246A>C (p.Met416Leu) c.1255A>C (p.Met419Leu) c.1348A>C (p.Met450Leu) c.76A>C c.922+1819A>C (n.922+1819A>C) c.1243A>C (p.Met415Leu) | |
19 | g.41424516A>G | CA9461413 | BCKDHA | c.1246A>G (p.Met416Val) c.1255A>G (p.Met419Val) c.1348A>G (p.Met450Val) c.76A>G c.922+1819A>G (n.922+1819A>G) c.1243A>G (p.Met415Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41424516A>T | CA406015415 | BCKDHA | c.1246A>T (p.Met416Leu) c.1255A>T (p.Met419Leu) c.1348A>T (p.Met450Leu) c.76A>T c.922+1819A>T (n.922+1819A>T) c.1243A>T (p.Met415Leu) | |
19 | g.41424517T>A | CA406015416 | BCKDHA | c.1247T>A (p.Met416Lys) c.1256T>A (p.Met419Lys) c.1349T>A (p.Met450Lys) c.77T>A c.922+1820T>A (n.922+1820T>A) c.1244T>A (p.Met415Lys) | |
19 | g.41424517T>C | CA406015417 | BCKDHA | c.1247T>C (p.Met416Thr) c.1256T>C (p.Met419Thr) c.1349T>C (p.Met450Thr) c.77T>C c.922+1820T>C (n.922+1820T>C) c.1244T>C (p.Met415Thr) | |
19 | g.41424517T>G | CA406015418 | BCKDHA | c.1247T>G (p.Met416Arg) c.1256T>G (p.Met419Arg) c.1349T>G (p.Met450Arg) c.77T>G c.922+1820T>G (n.922+1820T>G) c.1244T>G (p.Met415Arg) | |
19 | g.41424517_41424521delinsTGCCC | CA2336460053 | BCKDHA | c.1247_1251delinsTGCCC (p.Met416=) c.1256_1260delinsTGCCC (p.Met419=) c.1349_1353delinsTGCCC (p.Met450=) c.77_81delinsTGCCC c.922+1820_922+1824delinsTGCCC (n.922+1820_922+1824delinsTGCCC) c.1244_1248delinsTGCCC (p.Met415=) | |
19 | g.41424518G>A | CA406015419 | BCKDHA | c.1248G>A (p.Met416Ile) c.1257G>A (p.Met419Ile) c.1350G>A (p.Met450Ile) c.78G>A c.922+1821G>A (n.922+1821G>A) c.1245G>A (p.Met415Ile) | |
19 | g.41424518G>C | CA406015420 | BCKDHA | c.1248G>C (p.Met416Ile) c.1257G>C (p.Met419Ile) c.1350G>C (p.Met450Ile) c.78G>C c.922+1821G>C (n.922+1821G>C) c.1245G>C (p.Met415Ile) | |
19 | g.41424518G>T | CA406015421 | BCKDHA | c.1248G>T (p.Met416Ile) c.1257G>T (p.Met419Ile) c.1350G>T (p.Met450Ile) c.78G>T c.922+1821G>T (n.922+1821G>T) c.1245G>T (p.Met415Ile) | |
19 | g.41424522_41424525del | CA995977497 | BCKDHA | c.1252_1255del (p.Ala418SerfsTer?) c.1261_1264del (p.Ala421SerfsTer?) c.1354_1357del (p.Ala452SerfsTer?) c.82_85del c.922+1825_922+1828del (n.922+1825_922+1828del) c.1249_1252del (p.Ala417SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41424519C>A | CA406015422 | BCKDHA | c.1249C>A (p.Pro417Thr) c.1258C>A (p.Pro420Thr) c.1351C>A (p.Pro451Thr) c.79C>A c.922+1822C>A (n.922+1822C>A) c.1246C>A (p.Pro416Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424519C= | CA2336460054 | BCKDHA | c.1249C= (p.Pro417=) c.1258C= (p.Pro420=) c.1351C= (p.Pro451=) c.79C= c.922+1822C= (n.922+1822C=) c.1246C= (p.Pro416=) | |
19 | g.41424519C>G | CA406015423 | BCKDHA | c.1249C>G (p.Pro417Ala) c.1258C>G (p.Pro420Ala) c.1351C>G (p.Pro451Ala) c.79C>G c.922+1822C>G (n.922+1822C>G) c.1246C>G (p.Pro416Ala) | |
19 | g.41424519C>T | CA406015424 | BCKDHA | c.1249C>T (p.Pro417Ser) c.1258C>T (p.Pro420Ser) c.1351C>T (p.Pro451Ser) c.79C>T c.922+1822C>T (n.922+1822C>T) c.1246C>T (p.Pro416Ser) | dbSNP |
19 | g.41424521del | CA2586963979 | BCKDHA | c.1251del (p.Ala418ProfsTer?) c.1260del (p.Ala421ProfsTer?) c.1353del (p.Ala452ProfsTer?) c.81del c.922+1824del (n.922+1824del) c.1248del (p.Ala417ProfsTer?) | ClinVar |
19 | g.41424520C>A | CA406015425 | BCKDHA | c.1250C>A (p.Pro417His) c.1259C>A (p.Pro420His) c.1352C>A (p.Pro451His) c.80C>A c.922+1823C>A (n.922+1823C>A) c.1247C>A (p.Pro416His) | |
19 | g.41424520C>G | CA406015429 | BCKDHA | c.1250C>G (p.Pro417Arg) c.1259C>G (p.Pro420Arg) c.1352C>G (p.Pro451Arg) c.80C>G c.922+1823C>G (n.922+1823C>G) c.1247C>G (p.Pro416Arg) | |
19 | g.41424520C>T | CA406015427 | BCKDHA | c.1250C>T (p.Pro417Leu) c.1259C>T (p.Pro420Leu) c.1352C>T (p.Pro451Leu) c.80C>T c.922+1823C>T (n.922+1823C>T) c.1247C>T (p.Pro416Leu) | |
19 | g.41424521C>A | CA507560690 | BCKDHA | c.1251C>A (p.Pro417=) c.1260C>A (p.Pro420=) c.1353C>A (p.Pro451=) c.81C>A c.922+1824C>A (n.922+1824C>A) c.1248C>A (p.Pro416=) | gnomAD v4 |
19 | g.41424521C= | CA2336460055 | BCKDHA | c.1251C= (p.Pro417=) c.1260C= (p.Pro420=) c.1353C= (p.Pro451=) c.81C= c.922+1824C= (n.922+1824C=) c.1248C= (p.Pro416=) | |
19 | g.41424521C>G | CA507560691 | BCKDHA | c.1251C>G (p.Pro417=) c.1260C>G (p.Pro420=) c.1353C>G (p.Pro451=) c.81C>G c.922+1824C>G (n.922+1824C>G) c.1248C>G (p.Pro416=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424521C>T | CA233525 | BCKDHA | c.1251C>T (p.Pro417=) c.1260C>T (p.Pro420=) c.1353C>T (p.Pro451=) c.81C>T c.922+1824C>T (n.922+1824C>T) c.1248C>T (p.Pro416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41424522G>A | CA9461414 | BCKDHA | c.1252G>A (p.Ala418Thr) c.1261G>A (p.Ala421Thr) c.1354G>A (p.Ala452Thr) c.82G>A c.922+1825G>A (n.922+1825G>A) c.1249G>A (p.Ala417Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41424522G>C | CA406015433 | BCKDHA | c.1252G>C (p.Ala418Pro) c.1261G>C (p.Ala421Pro) c.1354G>C (p.Ala452Pro) c.82G>C c.922+1825G>C (n.922+1825G>C) c.1249G>C (p.Ala417Pro) | |
19 | g.41424522G= | CA2336460056 | BCKDHA | c.1252G= (p.Ala418=) c.1261G= (p.Ala421=) c.1354G= (p.Ala452=) c.82G= c.922+1825G= (n.922+1825G=) c.1249G= (p.Ala417=) | |
19 | g.41424522G>T | CA406015435 | BCKDHA | c.1252G>T (p.Ala418Ser) c.1261G>T (p.Ala421Ser) c.1354G>T (p.Ala452Ser) c.82G>T c.922+1825G>T (n.922+1825G>T) c.1249G>T (p.Ala417Ser) | gnomAD v4 |
19 | g.41424523C>A | CA406015437 | BCKDHA | c.1253C>A (p.Ala418Asp) c.1262C>A (p.Ala421Asp) c.1355C>A (p.Ala452Asp) c.83C>A c.922+1826C>A (n.922+1826C>A) c.1250C>A (p.Ala417Asp) | |
19 | g.41424523C>G | CA406015439 | BCKDHA | c.1253C>G (p.Ala418Gly) c.1262C>G (p.Ala421Gly) c.1355C>G (p.Ala452Gly) c.83C>G c.922+1826C>G (n.922+1826C>G) c.1250C>G (p.Ala417Gly) | |
19 | g.41424523C>T | CA406015440 | BCKDHA | c.1253C>T (p.Ala418Val) c.1262C>T (p.Ala421Val) c.1355C>T (p.Ala452Val) c.83C>T c.922+1826C>T (n.922+1826C>T) c.1250C>T (p.Ala417Val) | |
19 | g.41424524C>A | CA507560692 | BCKDHA | c.1254C>A (p.Ala418=) c.1263C>A (p.Ala421=) c.1356C>A (p.Ala452=) c.84C>A c.922+1827C>A (n.922+1827C>A) c.1251C>A (p.Ala417=) | |
19 | g.41424524C>G | CA507560693 | BCKDHA | c.1254C>G (p.Ala418=) c.1263C>G (p.Ala421=) c.1356C>G (p.Ala452=) c.84C>G c.922+1827C>G (n.922+1827C>G) c.1251C>G (p.Ala417=) | |
19 | g.41424524C>T | CA507560694 | BCKDHA | c.1254C>T (p.Ala418=) c.1263C>T (p.Ala421=) c.1356C>T (p.Ala452=) c.84C>T c.922+1827C>T (n.922+1827C>T) c.1251C>T (p.Ala417=) | |
19 | g.41424525C>A | CA406015441 | BCKDHA | c.1255C>A (p.Gln419Lys) c.1264C>A (p.Gln422Lys) c.1357C>A (p.Gln453Lys) c.85C>A c.922+1828C>A (n.922+1828C>A) c.1252C>A (p.Gln418Lys) | |
19 | g.41424525C= | CA2336460057 | BCKDHA | c.1255C= (p.Gln419=) c.1264C= (p.Gln422=) c.1357C= (p.Gln453=) c.85C= c.922+1828C= (n.922+1828C=) c.1252C= (p.Gln418=) | |
19 | g.41424525C>G | CA406015443 | BCKDHA | c.1255C>G (p.Gln419Glu) c.1264C>G (p.Gln422Glu) c.1357C>G (p.Gln453Glu) c.85C>G c.922+1828C>G (n.922+1828C>G) c.1252C>G (p.Gln418Glu) | gnomAD v4 |
19 | g.41424525C>T | CA406015445 | BCKDHA | c.1255C>T (p.Gln419Ter) c.1264C>T (p.Gln422Ter) c.1357C>T (p.Gln453Ter) c.85C>T c.922+1828C>T (n.922+1828C>T) c.1252C>T (p.Gln418Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424526A= | CA2336460058 | BCKDHA | c.1256A= (p.Gln419=) c.1265A= (p.Gln422=) c.1358A= (p.Gln453=) c.86A= c.922+1829A= (n.922+1829A=) c.1253A= (p.Gln418=) | |
19 | g.41424526A>C | CA406015450 | BCKDHA | c.1256A>C (p.Gln419Pro) c.1265A>C (p.Gln422Pro) c.1358A>C (p.Gln453Pro) c.86A>C c.922+1829A>C (n.922+1829A>C) c.1253A>C (p.Gln418Pro) | |
19 | g.41424526A>G | CA9461415 | BCKDHA | c.1256A>G (p.Gln419Arg) c.1265A>G (p.Gln422Arg) c.1358A>G (p.Gln453Arg) c.86A>G c.922+1829A>G (n.922+1829A>G) c.1253A>G (p.Gln418Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424526A>T | CA406015447 | BCKDHA | c.1256A>T (p.Gln419Leu) c.1265A>T (p.Gln422Leu) c.1358A>T (p.Gln453Leu) c.86A>T c.922+1829A>T (n.922+1829A>T) c.1253A>T (p.Gln418Leu) | |
19 | g.41424527G>A | CA507560695 | BCKDHA | c.1257G>A (p.Gln419=) c.1266G>A (p.Gln422=) c.1359G>A (p.Gln453=) c.87G>A c.922+1830G>A (n.922+1830G>A) c.1254G>A (p.Gln418=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424527G>C | CA406015452 | BCKDHA | c.1257G>C (p.Gln419His) c.1266G>C (p.Gln422His) c.1359G>C (p.Gln453His) c.87G>C c.922+1830G>C (n.922+1830G>C) c.1254G>C (p.Gln418His) | |
19 | g.41424527G= | CA2336460059 | BCKDHA | c.1257G= (p.Gln419=) c.1266G= (p.Gln422=) c.1359G= (p.Gln453=) c.87G= c.922+1830G= (n.922+1830G=) c.1254G= (p.Gln418=) | |
19 | g.41424527G>T | CA406015453 | BCKDHA | c.1257G>T (p.Gln419His) c.1266G>T (p.Gln422His) c.1359G>T (p.Gln453His) c.87G>T c.922+1830G>T (n.922+1830G>T) c.1254G>T (p.Gln418His) | |
19 | g.41424528C>A | CA406015455 | BCKDHA | c.1258C>A (p.Leu420Ile) c.1267C>A (p.Leu423Ile) c.1360C>A (p.Leu454Ile) c.88C>A c.922+1831C>A (n.922+1831C>A) c.1255C>A (p.Leu419Ile) | |
19 | g.41424528C>G | CA406015458 | BCKDHA | c.1258C>G (p.Leu420Val) c.1267C>G (p.Leu423Val) c.1360C>G (p.Leu454Val) c.88C>G c.922+1831C>G (n.922+1831C>G) c.1255C>G (p.Leu419Val) | |
19 | g.41424528C>T | CA406015459 | BCKDHA | c.1258C>T (p.Leu420Phe) c.1267C>T (p.Leu423Phe) c.1360C>T (p.Leu454Phe) c.88C>T c.922+1831C>T (n.922+1831C>T) c.1255C>T (p.Leu419Phe) | |
19 | g.41424529T>A | CA406015462 | BCKDHA | c.1259T>A (p.Leu420His) c.1268T>A (p.Leu423His) c.1361T>A (p.Leu454His) c.89T>A c.922+1832T>A (n.922+1832T>A) c.1256T>A (p.Leu419His) | |
19 | g.41424529T>C | CA406015464 | BCKDHA | c.1259T>C (p.Leu420Pro) c.1268T>C (p.Leu423Pro) c.1361T>C (p.Leu454Pro) c.89T>C c.922+1832T>C (n.922+1832T>C) c.1256T>C (p.Leu419Pro) | |
19 | g.41424529T>G | CA406015465 | BCKDHA | c.1259T>G (p.Leu420Arg) c.1268T>G (p.Leu423Arg) c.1361T>G (p.Leu454Arg) c.89T>G c.922+1832T>G (n.922+1832T>G) c.1256T>G (p.Leu419Arg) | |
19 | g.41424530C>A | CA507560696 | BCKDHA | c.1260C>A (p.Leu420=) c.1269C>A (p.Leu423=) c.1362C>A (p.Leu454=) c.90C>A c.922+1833C>A (n.922+1833C>A) c.1257C>A (p.Leu419=) | |
19 | g.41424530C= | CA2336460060 | BCKDHA | c.1260C= (p.Leu420=) c.1269C= (p.Leu423=) c.1362C= (p.Leu454=) c.90C= c.922+1833C= (n.922+1833C=) c.1257C= (p.Leu419=) | |
19 | g.41424530C>G | CA507560697 | BCKDHA | c.1260C>G (p.Leu420=) c.1269C>G (p.Leu423=) c.1362C>G (p.Leu454=) c.90C>G c.922+1833C>G (n.922+1833C>G) c.1257C>G (p.Leu419=) | |
19 | g.41424530C>T | CA146871 | BCKDHA | c.1260C>T (p.Leu420=) c.1269C>T (p.Leu423=) c.1362C>T (p.Leu454=) c.90C>T c.922+1833C>T (n.922+1833C>T) c.1257C>T (p.Leu419=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424531C>A | CA406015469 | BCKDHA | c.1261C>A (p.Arg421Ser) c.1270C>A (p.Arg424Ser) c.1363C>A (p.Arg455Ser) c.91C>A c.922+1834C>A (n.922+1834C>A) c.1258C>A (p.Arg420Ser) | |
19 | g.41424531C= | CA2336460061 | BCKDHA | c.1261C= (p.Arg421=) c.1270C= (p.Arg424=) c.1363C= (p.Arg455=) c.91C= c.922+1834C= (n.922+1834C=) c.1258C= (p.Arg420=) | |
19 | g.41424531C>G | CA406015470 | BCKDHA | c.1261C>G (p.Arg421Gly) c.1270C>G (p.Arg424Gly) c.1363C>G (p.Arg455Gly) c.91C>G c.922+1834C>G (n.922+1834C>G) c.1258C>G (p.Arg420Gly) | dbSNP gnomAD v4 |
19 | g.41424531C>T | CA9461416 | BCKDHA | c.1261C>T (p.Arg421Cys) c.1270C>T (p.Arg424Cys) c.1363C>T (p.Arg455Cys) c.91C>T c.922+1834C>T (n.922+1834C>T) c.1258C>T (p.Arg420Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424532G>A | CA9461417 | BCKDHA | c.1262G>A (p.Arg421His) c.1271G>A (p.Arg424His) c.1364G>A (p.Arg455His) c.92G>A c.922+1835G>A (n.922+1835G>A) c.1259G>A (p.Arg420His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41424532G>C | CA406015476 | BCKDHA | c.1262G>C (p.Arg421Pro) c.1271G>C (p.Arg424Pro) c.1364G>C (p.Arg455Pro) c.92G>C c.922+1835G>C (n.922+1835G>C) c.1259G>C (p.Arg420Pro) | |
19 | g.41424532G= | CA2336460062 | BCKDHA | c.1262G= (p.Arg421=) c.1271G= (p.Arg424=) c.1364G= (p.Arg455=) c.92G= c.922+1835G= (n.922+1835G=) c.1259G= (p.Arg420=) | |
19 | g.41424532G>T | CA406015473 | BCKDHA | c.1262G>T (p.Arg421Leu) c.1271G>T (p.Arg424Leu) c.1364G>T (p.Arg455Leu) c.92G>T c.922+1835G>T (n.922+1835G>T) c.1259G>T (p.Arg420Leu) | |
19 | g.41424535_41424538del | CA913016479 | BCKDHA | c.1265_1268del (p.Lys422SerfsTer?) c.1274_1277del (p.Lys425SerfsTer?) c.1367_1370del (p.Lys456SerfsTer?) c.95_98del c.922+1838_922+1841del (n.922+1838_922+1841del) c.1262_1265del (p.Lys421SerfsTer?) | |
19 | g.41424533C>A | CA507560698 | BCKDHA | c.1263C>A (p.Arg421=) c.1272C>A (p.Arg424=) c.1365C>A (p.Arg455=) c.93C>A c.922+1836C>A (n.922+1836C>A) c.1260C>A (p.Arg420=) | |
19 | g.41424533C= | CA2336460063 | BCKDHA | c.1263C= (p.Arg421=) c.1272C= (p.Arg424=) c.1365C= (p.Arg455=) c.93C= c.922+1836C= (n.922+1836C=) c.1260C= (p.Arg420=) | |
19 | g.41424533C>G | CA507560699 | BCKDHA | c.1263C>G (p.Arg421=) c.1272C>G (p.Arg424=) c.1365C>G (p.Arg455=) c.93C>G c.922+1836C>G (n.922+1836C>G) c.1260C>G (p.Arg420=) | |
19 | g.41424533C>T | CA9461418 | BCKDHA | c.1263C>T (p.Arg421=) c.1272C>T (p.Arg424=) c.1365C>T (p.Arg455=) c.93C>T c.922+1836C>T (n.922+1836C>T) c.1260C>T (p.Arg420=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41424534A= | CA2336460064 | BCKDHA | c.1264A= (p.Lys422=) c.1273A= (p.Lys425=) c.1366A= (p.Lys456=) c.94A= c.922+1837A= (n.922+1837A=) c.1261A= (p.Lys421=) | |
19 | g.41424534A>C | CA406015479 | BCKDHA | c.1264A>C (p.Lys422Gln) c.1273A>C (p.Lys425Gln) c.1366A>C (p.Lys456Gln) c.94A>C c.922+1837A>C (n.922+1837A>C) c.1261A>C (p.Lys421Gln) | |
19 | g.41424534A>G | CA406015480 | BCKDHA | c.1264A>G (p.Lys422Glu) c.1273A>G (p.Lys425Glu) c.1366A>G (p.Lys456Glu) c.94A>G c.922+1837A>G (n.922+1837A>G) c.1261A>G (p.Lys421Glu) | dbSNP gnomAD v4 |
19 | g.41424534A>T | CA406015482 | BCKDHA | c.1264A>T (p.Lys422Ter) c.1273A>T (p.Lys425Ter) c.1366A>T (p.Lys456Ter) c.94A>T c.922+1837A>T (n.922+1837A>T) c.1261A>T (p.Lys421Ter) | |
19 | g.41424534_41424537delinsAAGC | CA2336460065 | BCKDHA | c.1264_1267delinsAAGC (p.Lys422=) c.1273_1276delinsAAGC (p.Lys425=) c.1366_1369delinsAAGC (p.Lys456=) c.94_97delinsAAGC c.922+1837_922+1840delinsAAGC (n.922+1837_922+1840delinsAAGC) c.1261_1264delinsAAGC (p.Lys421=) | |
19 | g.41424535A>C | CA406015484 | BCKDHA | c.1265A>C (p.Lys422Thr) c.1274A>C (p.Lys425Thr) c.1367A>C (p.Lys456Thr) c.95A>C c.922+1838A>C (n.922+1838A>C) c.1262A>C (p.Lys421Thr) | |
19 | g.41424535A>G | CA406015486 | BCKDHA | c.1265A>G (p.Lys422Arg) c.1274A>G (p.Lys425Arg) c.1367A>G (p.Lys456Arg) c.95A>G c.922+1838A>G (n.922+1838A>G) c.1262A>G (p.Lys421Arg) | |
19 | g.41424535A>T | CA406015488 | BCKDHA | c.1265A>T (p.Lys422Met) c.1274A>T (p.Lys425Met) c.1367A>T (p.Lys456Met) c.95A>T c.922+1838A>T (n.922+1838A>T) c.1262A>T (p.Lys421Met) | |
19 | g.41424540_41424542del | CA658823825 | BCKDHA | c.1270_1272del (p.Gln424del) c.1279_1281del (p.Gln427del) c.1372_1374del (p.Gln458del) c.100_102del c.922+1843_922+1845del (n.922+1843_922+1845del) c.1267_1269del (p.Gln423del) | ClinVar dbSNP |
19 | g.41424536G>A | CA507560701 | BCKDHA | c.1266G>A (p.Lys422=) c.1275G>A (p.Lys425=) c.1368G>A (p.Lys456=) c.96G>A c.922+1839G>A (n.922+1839G>A) c.1263G>A (p.Lys421=) | |
19 | g.41424536G>C | CA406015489 | BCKDHA | c.1266G>C (p.Lys422Asn) c.1275G>C (p.Lys425Asn) c.1368G>C (p.Lys456Asn) c.96G>C c.922+1839G>C (n.922+1839G>C) c.1263G>C (p.Lys421Asn) | |
19 | g.41424536G>T | CA406015491 | BCKDHA | c.1266G>T (p.Lys422Asn) c.1275G>T (p.Lys425Asn) c.1368G>T (p.Lys456Asn) c.96G>T c.922+1839G>T (n.922+1839G>T) c.1263G>T (p.Lys421Asn) | |
19 | g.41424537C>A | CA406015494 | BCKDHA | c.1267C>A (p.Gln423Lys) c.1276C>A (p.Gln426Lys) c.1369C>A (p.Gln457Lys) c.97C>A c.922+1840C>A (n.922+1840C>A) c.1264C>A (p.Gln422Lys) | |
19 | g.41424537C= | CA2336460066 | BCKDHA | c.1267C= (p.Gln423=) c.1276C= (p.Gln426=) c.1369C= (p.Gln457=) c.97C= c.922+1840C= (n.922+1840C=) c.1264C= (p.Gln422=) | |
19 | g.41424537C>G | CA406015495 | BCKDHA | c.1267C>G (p.Gln423Glu) c.1276C>G (p.Gln426Glu) c.1369C>G (p.Gln457Glu) c.97C>G c.922+1840C>G (n.922+1840C>G) c.1264C>G (p.Gln422Glu) | |
19 | g.41424537C>T | CA406015497 | BCKDHA | c.1267C>T (p.Gln423Ter) c.1276C>T (p.Gln426Ter) c.1369C>T (p.Gln457Ter) c.97C>T c.922+1840C>T (n.922+1840C>T) c.1264C>T (p.Gln422Ter) | dbSNP |
19 | g.41424538A>C | CA406015499 | BCKDHA | c.1268A>C (p.Gln423Pro) c.1277A>C (p.Gln426Pro) c.1370A>C (p.Gln457Pro) c.98A>C c.922+1841A>C (n.922+1841A>C) c.1265A>C (p.Gln422Pro) | |
19 | g.41424538A>G | CA406015501 | BCKDHA | c.1268A>G (p.Gln423Arg) c.1277A>G (p.Gln426Arg) c.1370A>G (p.Gln457Arg) c.98A>G c.922+1841A>G (n.922+1841A>G) c.1265A>G (p.Gln422Arg) | |
19 | g.41424538A>T | CA406015503 | BCKDHA | c.1268A>T (p.Gln423Leu) c.1277A>T (p.Gln426Leu) c.1370A>T (p.Gln457Leu) c.98A>T c.922+1841A>T (n.922+1841A>T) c.1265A>T (p.Gln422Leu) | |
19 | g.41424539G>A | CA507560702 | BCKDHA | c.1269G>A (p.Gln423=) c.1278G>A (p.Gln426=) c.1371G>A (p.Gln457=) c.99G>A c.922+1842G>A (n.922+1842G>A) c.1266G>A (p.Gln422=) | COSMIC |
19 | g.41424539G>C | CA406015505 | BCKDHA | c.1269G>C (p.Gln423His) c.1278G>C (p.Gln426His) c.1371G>C (p.Gln457His) c.99G>C c.922+1842G>C (n.922+1842G>C) c.1266G>C (p.Gln422His) | |
19 | g.41424539G>T | CA406015506 | BCKDHA | c.1269G>T (p.Gln423His) c.1278G>T (p.Gln426His) c.1371G>T (p.Gln457His) c.99G>T c.922+1842G>T (n.922+1842G>T) c.1266G>T (p.Gln422His) | |
19 | g.41424540C>A | CA9461419 | BCKDHA | c.1270C>A (p.Gln424Lys) c.1279C>A (p.Gln427Lys) c.1372C>A (p.Gln458Lys) c.100C>A c.922+1843C>A (n.922+1843C>A) c.1267C>A (p.Gln423Lys) | dbSNP ExAC gnomAD v4 |
19 | g.41424540C= | CA2336460067 | BCKDHA | c.1270C= (p.Gln424=) c.1279C= (p.Gln427=) c.1372C= (p.Gln458=) c.100C= c.922+1843C= (n.922+1843C=) c.1267C= (p.Gln423=) | |
19 | g.41424540C>G | CA406015508 | BCKDHA | c.1270C>G (p.Gln424Glu) c.1279C>G (p.Gln427Glu) c.1372C>G (p.Gln458Glu) c.100C>G c.922+1843C>G (n.922+1843C>G) c.1267C>G (p.Gln423Glu) | dbSNP gnomAD v4 |
19 | g.41424540C>T | CA406015510 | BCKDHA | c.1270C>T (p.Gln424Ter) c.1279C>T (p.Gln427Ter) c.1372C>T (p.Gln458Ter) c.100C>T c.922+1843C>T (n.922+1843C>T) c.1267C>T (p.Gln423Ter) | dbSNP |
19 | g.41424540dup | CA2695228772 | BCKDHA | c.1270dup (p.Gln424ProfsTer22) c.1279dup (p.Gln427ProfsTer22) c.1372dup (p.Gln458ProfsTer22) c.100dup c.922+1843dup (n.922+1843dup) c.1267dup (p.Gln423ProfsTer22) | |
19 | g.41424541A>C | CA406015512 | BCKDHA | c.1271A>C (p.Gln424Pro) c.1280A>C (p.Gln427Pro) c.1373A>C (p.Gln458Pro) c.101A>C c.922+1844A>C (n.922+1844A>C) c.1268A>C (p.Gln423Pro) | |
19 | g.41424541A>G | CA406015514 | BCKDHA | c.1271A>G (p.Gln424Arg) c.1280A>G (p.Gln427Arg) c.1373A>G (p.Gln458Arg) c.101A>G c.922+1844A>G (n.922+1844A>G) c.1268A>G (p.Gln423Arg) | |
19 | g.41424541A>T | CA406015516 | BCKDHA | c.1271A>T (p.Gln424Leu) c.1280A>T (p.Gln427Leu) c.1373A>T (p.Gln458Leu) c.101A>T c.922+1844A>T (n.922+1844A>T) c.1268A>T (p.Gln423Leu) | COSMIC |
19 | g.41424542G>A | CA507560703 | BCKDHA | c.1272G>A (p.Gln424=) c.1281G>A (p.Gln427=) c.1374G>A (p.Gln458=) c.102G>A c.922+1845G>A (n.922+1845G>A) c.1269G>A (p.Gln423=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41424542G>C | CA406015518 | BCKDHA | c.1272G>C (p.Gln424His) c.1281G>C (p.Gln427His) c.1374G>C (p.Gln458His) c.102G>C c.922+1845G>C (n.922+1845G>C) c.1269G>C (p.Gln423His) | |
19 | g.41424542G= | CA2336460068 | BCKDHA | c.1272G= (p.Gln424=) c.1281G= (p.Gln427=) c.1374G= (p.Gln458=) c.102G= c.922+1845G= (n.922+1845G=) c.1269G= (p.Gln423=) | |
19 | g.41424542G>T | CA406015520 | BCKDHA | c.1272G>T (p.Gln424His) c.1281G>T (p.Gln427His) c.1374G>T (p.Gln458His) c.102G>T c.922+1845G>T (n.922+1845G>T) c.1269G>T (p.Gln423His) | |
19 | g.41424543G>A | CA406015522 | BCKDHA | c.1273G>A (p.Glu425Lys) c.1282G>A (p.Glu428Lys) c.1375G>A (p.Glu459Lys) c.103G>A c.922+1846G>A (n.922+1846G>A) c.1270G>A (p.Glu424Lys) | gnomAD v4 |
19 | g.41424543G>C | CA406015524 | BCKDHA | c.1273G>C (p.Glu425Gln) c.1282G>C (p.Glu428Gln) c.1375G>C (p.Glu459Gln) c.103G>C c.922+1846G>C (n.922+1846G>C) c.1270G>C (p.Glu424Gln) | |
19 | g.41424543G>T | CA406015527 | BCKDHA | c.1273G>T (p.Glu425Ter) c.1282G>T (p.Glu428Ter) c.1375G>T (p.Glu459Ter) c.103G>T c.922+1846G>T (n.922+1846G>T) c.1270G>T (p.Glu424Ter) | |
19 | g.41424544A>C | CA406015532 | BCKDHA | c.1274A>C (p.Glu425Ala) c.1283A>C (p.Glu428Ala) c.1376A>C (p.Glu459Ala) c.104A>C c.922+1847A>C (n.922+1847A>C) c.1271A>C (p.Glu424Ala) | |
19 | g.41424544A>G | CA406015530 | BCKDHA | c.1274A>G (p.Glu425Gly) c.1283A>G (p.Glu428Gly) c.1376A>G (p.Glu459Gly) c.104A>G c.922+1847A>G (n.922+1847A>G) c.1271A>G (p.Glu424Gly) | |
19 | g.41424544A>T | CA406015528 | BCKDHA | c.1274A>T (p.Glu425Val) c.1283A>T (p.Glu428Val) c.1376A>T (p.Glu459Val) c.104A>T c.922+1847A>T (n.922+1847A>T) c.1271A>T (p.Glu424Val) | |
19 | g.41424545G>A | CA507560704 | BCKDHA | c.1275G>A (p.Glu425=) c.1284G>A (p.Glu428=) c.1377G>A (p.Glu459=) c.105G>A c.922+1848G>A (n.922+1848G>A) c.1272G>A (p.Glu424=) | ClinVar dbSNP |
19 | g.41424545G>C | CA406015534 | BCKDHA | c.1275G>C (p.Glu425Asp) c.1284G>C (p.Glu428Asp) c.1377G>C (p.Glu459Asp) c.105G>C c.922+1848G>C (n.922+1848G>C) c.1272G>C (p.Glu424Asp) | |
19 | g.41424545G>T | CA406015536 | BCKDHA | c.1275G>T (p.Glu425Asp) c.1284G>T (p.Glu428Asp) c.1377G>T (p.Glu459Asp) c.105G>T c.922+1848G>T (n.922+1848G>T) c.1272G>T (p.Glu424Asp) | |
19 | g.41424546T>A | CA406015538 | BCKDHA | c.1276T>A (p.Ser426Thr) c.1285T>A (p.Ser429Thr) c.1378T>A (p.Ser460Thr) c.106T>A c.922+1849T>A (n.922+1849T>A) c.1273T>A (p.Ser425Thr) | |
19 | g.41424546T>C | CA406015540 | BCKDHA | c.1276T>C (p.Ser426Pro) c.1285T>C (p.Ser429Pro) c.1378T>C (p.Ser460Pro) c.106T>C c.922+1849T>C (n.922+1849T>C) c.1273T>C (p.Ser425Pro) | |
19 | g.41424546T>G | CA406015542 | BCKDHA | c.1276T>G (p.Ser426Ala) c.1285T>G (p.Ser429Ala) c.1378T>G (p.Ser460Ala) c.106T>G c.922+1849T>G (n.922+1849T>G) c.1273T>G (p.Ser425Ala) | gnomAD v4 |
19 | g.41424547C>A | CA406015545 | BCKDHA | c.1277C>A (p.Ser426Tyr) c.1286C>A (p.Ser429Tyr) c.1379C>A (p.Ser460Tyr) c.107C>A c.922+1850C>A (n.922+1850C>A) c.1274C>A (p.Ser425Tyr) | |
19 | g.41424547C= | CA2336460069 | BCKDHA | c.1277C= (p.Ser426=) c.1286C= (p.Ser429=) c.1379C= (p.Ser460=) c.107C= c.922+1850C= (n.922+1850C=) c.1274C= (p.Ser425=) | |
19 | g.41424547C>G | CA406015543 | BCKDHA | c.1277C>G (p.Ser426Cys) c.1286C>G (p.Ser429Cys) c.1379C>G (p.Ser460Cys) c.107C>G c.922+1850C>G (n.922+1850C>G) c.1274C>G (p.Ser425Cys) | |
19 | g.41424547C>T | CA248006 | BCKDHA | c.1277C>T (p.Ser426Phe) c.1286C>T (p.Ser429Phe) c.1379C>T (p.Ser460Phe) c.107C>T c.922+1850C>T (n.922+1850C>T) c.1274C>T (p.Ser425Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424548T>A | CA507560705 | BCKDHA | c.1278T>A (p.Ser426=) c.1287T>A (p.Ser429=) c.1380T>A (p.Ser460=) c.108T>A c.922+1851T>A (n.922+1851T>A) c.1275T>A (p.Ser425=) | ClinVar dbSNP |
19 | g.41424548T>C | CA507560708 | BCKDHA | c.1278T>C (p.Ser426=) c.1287T>C (p.Ser429=) c.1380T>C (p.Ser460=) c.108T>C c.922+1851T>C (n.922+1851T>C) c.1275T>C (p.Ser425=) | |
19 | g.41424548T>G | CA507560707 | BCKDHA | c.1278T>G (p.Ser426=) c.1287T>G (p.Ser429=) c.1380T>G (p.Ser460=) c.108T>G c.922+1851T>G (n.922+1851T>G) c.1275T>G (p.Ser425=) | |
19 | g.41424549C>A | CA406015548 | BCKDHA | c.1279C>A (p.Leu427Met) c.1288C>A (p.Leu430Met) c.1381C>A (p.Leu461Met) c.109C>A c.922+1852C>A (n.922+1852C>A) c.1276C>A (p.Leu426Met) | |
19 | g.41424549C>G | CA406015549 | BCKDHA | c.1279C>G (p.Leu427Val) c.1288C>G (p.Leu430Val) c.1381C>G (p.Leu461Val) c.109C>G c.922+1852C>G (n.922+1852C>G) c.1276C>G (p.Leu426Val) | |
19 | g.41424549C>T | CA507560709 | BCKDHA | c.1279C>T (p.Leu427=) c.1288C>T (p.Leu430=) c.1381C>T (p.Leu461=) c.109C>T c.922+1852C>T (n.922+1852C>T) c.1276C>T (p.Leu426=) | |
19 | g.41424549_41424552delinsCTGG | CA2336460070 | BCKDHA | c.1279_1282delinsCTGG (p.Leu427=) c.1288_1291delinsCTGG (p.Leu430=) c.1381_1384delinsCTGG (p.Leu461=) c.109_112delinsCTGG c.922+1852_922+1855delinsCTGG (n.922+1852_922+1855delinsCTGG) c.1276_1279delinsCTGG (p.Leu426=) | |
19 | g.41424550_41424553del | CA913016480 | BCKDHA | c.1280_1283del (p.Leu427ProfsTer?) c.1289_1292del (p.Leu430ProfsTer?) c.1382_1385del (p.Leu461ProfsTer?) c.110_113del c.922+1853_922+1856del (n.922+1853_922+1856del) c.1277_1280del (p.Leu426ProfsTer?) | |
19 | g.41424552_41424563del | CA2695228773 | BCKDHA | c.1282_1293del (p.Ala428_Leu431del) c.1291_1302del (p.Ala431_Leu434del) c.1384_1395del (p.Ala462_Leu465del) c.112_123del c.922+1855_922+1866del (n.922+1855_922+1866del) c.1279_1290del (p.Ala427_Leu430del) | |
19 | g.41424550T>A | CA406015553 | BCKDHA | c.1280T>A (p.Leu427Gln) c.1289T>A (p.Leu430Gln) c.1382T>A (p.Leu461Gln) c.110T>A c.922+1853T>A (n.922+1853T>A) c.1277T>A (p.Leu426Gln) | |
19 | g.41424550T>C | CA406015554 | BCKDHA | c.1280T>C (p.Leu427Pro) c.1289T>C (p.Leu430Pro) c.1382T>C (p.Leu461Pro) c.110T>C c.922+1853T>C (n.922+1853T>C) c.1277T>C (p.Leu426Pro) | |
19 | g.41424550T>G | CA406015556 | BCKDHA | c.1280T>G (p.Leu427Arg) c.1289T>G (p.Leu430Arg) c.1382T>G (p.Leu461Arg) c.110T>G c.922+1853T>G (n.922+1853T>G) c.1277T>G (p.Leu426Arg) | |
19 | g.41424550_41424552del | CA9461420 | BCKDHA | c.1280_1282del (p.Leu427_Ala428delinsPro) c.1289_1291del (p.Leu430_Ala431delinsPro) c.1382_1384del (p.Leu461_Ala462delinsPro) c.110_112del c.922+1853_922+1855del (n.922+1853_922+1855del) c.1277_1279del (p.Leu426_Ala427delinsPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |