Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |
19 | g.41424551G>A | CA507560710 | BCKDHA | c.1281G>A (p.Leu427=) c.1290G>A (p.Leu430=) c.1383G>A (p.Leu461=) c.111G>A c.922+1854G>A (n.922+1854G>A) c.1278G>A (p.Leu426=) | gnomAD v4 |
19 | g.41424551G>C | CA507560711 | BCKDHA | c.1281G>C (p.Leu427=) c.1290G>C (p.Leu430=) c.1383G>C (p.Leu461=) c.111G>C c.922+1854G>C (n.922+1854G>C) c.1278G>C (p.Leu426=) | ClinVar |
19 | g.41424551G>T | CA507560712 | BCKDHA | c.1281G>T (p.Leu427=) c.1290G>T (p.Leu430=) c.1383G>T (p.Leu461=) c.111G>T c.922+1854G>T (n.922+1854G>T) c.1278G>T (p.Leu426=) | |
19 | g.41424552G>A | CA406015561 | BCKDHA | c.1282G>A (p.Ala428Thr) c.1291G>A (p.Ala431Thr) c.1384G>A (p.Ala462Thr) c.112G>A c.922+1855G>A (n.922+1855G>A) c.1279G>A (p.Ala427Thr) | gnomAD v4 |
19 | g.41424552G>C | CA406015565 | BCKDHA | c.1282G>C (p.Ala428Pro) c.1291G>C (p.Ala431Pro) c.1384G>C (p.Ala462Pro) c.112G>C c.922+1855G>C (n.922+1855G>C) c.1279G>C (p.Ala427Pro) | |
19 | g.41424552G>T | CA406015563 | BCKDHA | c.1282G>T (p.Ala428Ser) c.1291G>T (p.Ala431Ser) c.1384G>T (p.Ala462Ser) c.112G>T c.922+1855G>T (n.922+1855G>T) c.1279G>T (p.Ala427Ser) | |
19 | g.41424552_41424554del | CA2695228774 | BCKDHA | c.1282_1284del (p.Ala428del) c.1291_1293del (p.Ala431del) c.1384_1386del (p.Ala462del) c.112_114del c.922+1855_922+1857del (n.922+1855_922+1857del) c.1279_1281del (p.Ala427del) | |
19 | g.41424553C>A | CA406015568 | BCKDHA | c.1283C>A (p.Ala428Asp) c.1292C>A (p.Ala431Asp) c.1385C>A (p.Ala462Asp) c.113C>A c.922+1856C>A (n.922+1856C>A) c.1280C>A (p.Ala427Asp) | |
19 | g.41424553C= | CA2336460071 | BCKDHA | c.1283C= (p.Ala428=) c.1292C= (p.Ala431=) c.1385C= (p.Ala462=) c.113C= c.922+1856C= (n.922+1856C=) c.1280C= (p.Ala427=) | |
19 | g.41424553C>G | CA406015570 | BCKDHA | c.1283C>G (p.Ala428Gly) c.1292C>G (p.Ala431Gly) c.1385C>G (p.Ala462Gly) c.113C>G c.922+1856C>G (n.922+1856C>G) c.1280C>G (p.Ala427Gly) | |
19 | g.41424553C>T | CA406015572 | BCKDHA | c.1283C>T (p.Ala428Val) c.1292C>T (p.Ala431Val) c.1385C>T (p.Ala462Val) c.113C>T c.922+1856C>T (n.922+1856C>T) c.1280C>T (p.Ala427Val) | dbSNP gnomAD v4 |
19 | g.41424554C>A | CA507560713 | BCKDHA | c.1284C>A (p.Ala428=) c.1293C>A (p.Ala431=) c.1386C>A (p.Ala462=) c.114C>A c.922+1857C>A (n.922+1857C>A) c.1281C>A (p.Ala427=) | |
19 | g.41424554C>G | CA507560714 | BCKDHA | c.1284C>G (p.Ala428=) c.1293C>G (p.Ala431=) c.1386C>G (p.Ala462=) c.114C>G c.922+1857C>G (n.922+1857C>G) c.1281C>G (p.Ala427=) | |
19 | g.41424554C>T | CA507560715 | BCKDHA | c.1284C>T (p.Ala428=) c.1293C>T (p.Ala431=) c.1386C>T (p.Ala462=) c.114C>T c.922+1857C>T (n.922+1857C>T) c.1281C>T (p.Ala427=) | |
19 | g.41424555C>A | CA406015573 | BCKDHA | c.1285C>A (p.Arg429Ser) c.1294C>A (p.Arg432Ser) c.1387C>A (p.Arg463Ser) c.115C>A c.922+1858C>A (n.922+1858C>A) c.1282C>A (p.Arg428Ser) | |
19 | g.41424555C= | CA2336460072 | BCKDHA | c.1285C= (p.Arg429=) c.1294C= (p.Arg432=) c.1387C= (p.Arg463=) c.115C= c.922+1858C= (n.922+1858C=) c.1282C= (p.Arg428=) | |
19 | g.41424555C>G | CA406015576 | BCKDHA | c.1285C>G (p.Arg429Gly) c.1294C>G (p.Arg432Gly) c.1387C>G (p.Arg463Gly) c.115C>G c.922+1858C>G (n.922+1858C>G) c.1282C>G (p.Arg428Gly) | |
19 | g.41424555C>T | CA9461421 | BCKDHA | c.1285C>T (p.Arg429Cys) c.1294C>T (p.Arg432Cys) c.1387C>T (p.Arg463Cys) c.115C>T c.922+1858C>T (n.922+1858C>T) c.1282C>T (p.Arg428Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424556G>A | CA9461422 | BCKDHA | c.1286G>A (p.Arg429His) c.1295G>A (p.Arg432His) c.1388G>A (p.Arg463His) c.116G>A c.922+1859G>A (n.922+1859G>A) c.1283G>A (p.Arg428His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424556G>C | CA406015578 | BCKDHA | c.1286G>C (p.Arg429Pro) c.1295G>C (p.Arg432Pro) c.1388G>C (p.Arg463Pro) c.116G>C c.922+1859G>C (n.922+1859G>C) c.1283G>C (p.Arg428Pro) | gnomAD v4 |
19 | g.41424556G= | CA2336460073 | BCKDHA | c.1286G= (p.Arg429=) c.1295G= (p.Arg432=) c.1388G= (p.Arg463=) c.116G= c.922+1859G= (n.922+1859G=) c.1283G= (p.Arg428=) | |
19 | g.41424556G>T | CA406015580 | BCKDHA | c.1286G>T (p.Arg429Leu) c.1295G>T (p.Arg432Leu) c.1388G>T (p.Arg463Leu) c.116G>T c.922+1859G>T (n.922+1859G>T) c.1283G>T (p.Arg428Leu) | gnomAD v4 |
19 | g.41424557C>A | CA507560719 | BCKDHA | c.1287C>A (p.Arg429=) c.1296C>A (p.Arg432=) c.1389C>A (p.Arg463=) c.117C>A c.922+1860C>A (n.922+1860C>A) c.1284C>A (p.Arg428=) | |
19 | g.41424557C>G | CA507560718 | BCKDHA | c.1287C>G (p.Arg429=) c.1296C>G (p.Arg432=) c.1389C>G (p.Arg463=) c.117C>G c.922+1860C>G (n.922+1860C>G) c.1284C>G (p.Arg428=) | |
19 | g.41424557C>T | CA507560717 | BCKDHA | c.1287C>T (p.Arg429=) c.1296C>T (p.Arg432=) c.1389C>T (p.Arg463=) c.117C>T c.922+1860C>T (n.922+1860C>T) c.1284C>T (p.Arg428=) | gnomAD v4 |
19 | g.41424558C>A | CA406015582 | BCKDHA | c.1288C>A (p.His430Asn) c.1297C>A (p.His433Asn) c.1390C>A (p.His464Asn) c.118C>A c.922+1861C>A (n.922+1861C>A) c.1285C>A (p.His429Asn) | |
19 | g.41424558C>G | CA406015583 | BCKDHA | c.1288C>G (p.His430Asp) c.1297C>G (p.His433Asp) c.1390C>G (p.His464Asp) c.118C>G c.922+1861C>G (n.922+1861C>G) c.1285C>G (p.His429Asp) | |
19 | g.41424558C>T | CA406015584 | BCKDHA | c.1288C>T (p.His430Tyr) c.1297C>T (p.His433Tyr) c.1390C>T (p.His464Tyr) c.118C>T c.922+1861C>T (n.922+1861C>T) c.1285C>T (p.His429Tyr) | |
19 | g.41424559A>C | CA406015586 | BCKDHA | c.1289A>C (p.His430Pro) c.1298A>C (p.His433Pro) c.1391A>C (p.His464Pro) c.119A>C c.922+1862A>C (n.922+1862A>C) c.1286A>C (p.His429Pro) | ClinVar |
19 | g.41424559A>G | CA406015588 | BCKDHA | c.1289A>G (p.His430Arg) c.1298A>G (p.His433Arg) c.1391A>G (p.His464Arg) c.119A>G c.922+1862A>G (n.922+1862A>G) c.1286A>G (p.His429Arg) | |
19 | g.41424559A>T | CA406015585 | BCKDHA | c.1289A>T (p.His430Leu) c.1298A>T (p.His433Leu) c.1391A>T (p.His464Leu) c.119A>T c.922+1862A>T (n.922+1862A>T) c.1286A>T (p.His429Leu) | |
19 | g.41424560C>A | CA406015592 | BCKDHA | c.1290C>A (p.His430Gln) c.1299C>A (p.His433Gln) c.1392C>A (p.His464Gln) c.120C>A c.922+1863C>A (n.922+1863C>A) c.1287C>A (p.His429Gln) | |
19 | g.41424560C= | CA2336460074 | BCKDHA | c.1290C= (p.His430=) c.1299C= (p.His433=) c.1392C= (p.His464=) c.120C= c.922+1863C= (n.922+1863C=) c.1287C= (p.His429=) | |
19 | g.41424560C>G | CA406015589 | BCKDHA | c.1290C>G (p.His430Gln) c.1299C>G (p.His433Gln) c.1392C>G (p.His464Gln) c.120C>G c.922+1863C>G (n.922+1863C>G) c.1287C>G (p.His429Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424560C>T | CA507560720 | BCKDHA | c.1290C>T (p.His430=) c.1299C>T (p.His433=) c.1392C>T (p.His464=) c.120C>T c.922+1863C>T (n.922+1863C>T) c.1287C>T (p.His429=) | gnomAD v4 |
19 | g.41424561C>A | CA406015595 | BCKDHA | c.1291C>A (p.Leu431Met) c.1300C>A (p.Leu434Met) c.1393C>A (p.Leu465Met) c.121C>A c.922+1864C>A (n.922+1864C>A) c.1288C>A (p.Leu430Met) | |
19 | g.41424561C>G | CA406015597 | BCKDHA | c.1291C>G (p.Leu431Val) c.1300C>G (p.Leu434Val) c.1393C>G (p.Leu465Val) c.121C>G c.922+1864C>G (n.922+1864C>G) c.1288C>G (p.Leu430Val) | |
19 | g.41424561C>T | CA507560721 | BCKDHA | c.1291C>T (p.Leu431=) c.1300C>T (p.Leu434=) c.1393C>T (p.Leu465=) c.121C>T c.922+1864C>T (n.922+1864C>T) c.1288C>T (p.Leu430=) | gnomAD v4 |
19 | g.41424562T>A | CA406015600 | BCKDHA | c.1292T>A (p.Leu431Gln) c.1301T>A (p.Leu434Gln) c.1394T>A (p.Leu465Gln) c.122T>A c.922+1865T>A (n.922+1865T>A) c.1289T>A (p.Leu430Gln) | |
19 | g.41424562T>C | CA406015601 | BCKDHA | c.1292T>C (p.Leu431Pro) c.1301T>C (p.Leu434Pro) c.1394T>C (p.Leu465Pro) c.122T>C c.922+1865T>C (n.922+1865T>C) c.1289T>C (p.Leu430Pro) | |
19 | g.41424562T>G | CA406015602 | BCKDHA | c.1292T>G (p.Leu431Arg) c.1301T>G (p.Leu434Arg) c.1394T>G (p.Leu465Arg) c.122T>G c.922+1865T>G (n.922+1865T>G) c.1289T>G (p.Leu430Arg) | |
19 | g.41424563G>A | CA507560722 | BCKDHA | c.1293G>A (p.Leu431=) c.1302G>A (p.Leu434=) c.1395G>A (p.Leu465=) c.123G>A c.922+1866G>A (n.922+1866G>A) c.1290G>A (p.Leu430=) | |
19 | g.41424563G>C | CA507560723 | BCKDHA | c.1293G>C (p.Leu431=) c.1302G>C (p.Leu434=) c.1395G>C (p.Leu465=) c.123G>C c.922+1866G>C (n.922+1866G>C) c.1290G>C (p.Leu430=) | |
19 | g.41424563G>T | CA507560724 | BCKDHA | c.1293G>T (p.Leu431=) c.1302G>T (p.Leu434=) c.1395G>T (p.Leu465=) c.123G>T c.922+1866G>T (n.922+1866G>T) c.1290G>T (p.Leu430=) | |
19 | g.41424564C>A | CA406015605 | BCKDHA | c.1294C>A (p.Gln432Lys) c.1303C>A (p.Gln435Lys) c.1396C>A (p.Gln466Lys) c.124C>A c.922+1867C>A (n.922+1867C>A) c.1291C>A (p.Gln431Lys) | |
19 | g.41424564C>G | CA406015603 | BCKDHA | c.1294C>G (p.Gln432Glu) c.1303C>G (p.Gln435Glu) c.1396C>G (p.Gln466Glu) c.124C>G c.922+1867C>G (n.922+1867C>G) c.1291C>G (p.Gln431Glu) | |
19 | g.41424564C>T | CA406015604 | BCKDHA | c.1294C>T (p.Gln432Ter) c.1303C>T (p.Gln435Ter) c.1396C>T (p.Gln466Ter) c.124C>T c.922+1867C>T (n.922+1867C>T) c.1291C>T (p.Gln431Ter) | |
19 | g.41424565A>C | CA406015607 | BCKDHA | c.1295A>C (p.Gln432Pro) c.1304A>C (p.Gln435Pro) c.1397A>C (p.Gln466Pro) c.125A>C c.922+1868A>C (n.922+1868A>C) c.1292A>C (p.Gln431Pro) | |
19 | g.41424565A>G | CA406015608 | BCKDHA | c.1295A>G (p.Gln432Arg) c.1304A>G (p.Gln435Arg) c.1397A>G (p.Gln466Arg) c.125A>G c.922+1868A>G (n.922+1868A>G) c.1292A>G (p.Gln431Arg) | |
19 | g.41424565A>T | CA406015609 | BCKDHA | c.1295A>T (p.Gln432Leu) c.1304A>T (p.Gln435Leu) c.1397A>T (p.Gln466Leu) c.125A>T c.922+1868A>T (n.922+1868A>T) c.1292A>T (p.Gln431Leu) | |
19 | g.41424566G>A | CA507560726 | BCKDHA | c.1296G>A (p.Gln432=) c.1305G>A (p.Gln435=) c.1398G>A (p.Gln466=) c.126G>A c.922+1869G>A (n.922+1869G>A) c.1293G>A (p.Gln431=) | |
19 | g.41424566G>C | CA406015611 | BCKDHA | c.1296G>C (p.Gln432His) c.1305G>C (p.Gln435His) c.1398G>C (p.Gln466His) c.126G>C c.922+1869G>C (n.922+1869G>C) c.1293G>C (p.Gln431His) | ClinVar gnomAD v4 |
19 | g.41424566G>T | CA406015613 | BCKDHA | c.1296G>T (p.Gln432His) c.1305G>T (p.Gln435His) c.1398G>T (p.Gln466His) c.126G>T c.922+1869G>T (n.922+1869G>T) c.1293G>T (p.Gln431His) | |
19 | g.41424567A>C | CA406015617 | BCKDHA | c.1297A>C (p.Thr433Pro) c.1306A>C (p.Thr436Pro) c.1399A>C (p.Thr467Pro) c.127A>C c.922+1870A>C (n.922+1870A>C) c.1294A>C (p.Thr432Pro) | |
19 | g.41424567A>G | CA406015615 | BCKDHA | c.1297A>G (p.Thr433Ala) c.1306A>G (p.Thr436Ala) c.1399A>G (p.Thr467Ala) c.127A>G c.922+1870A>G (n.922+1870A>G) c.1294A>G (p.Thr432Ala) | |
19 | g.41424567A>T | CA406015616 | BCKDHA | c.1297A>T (p.Thr433Ser) c.1306A>T (p.Thr436Ser) c.1399A>T (p.Thr467Ser) c.127A>T c.922+1870A>T (n.922+1870A>T) c.1294A>T (p.Thr432Ser) | |
19 | g.41424568C>A | CA406015618 | BCKDHA | c.1298C>A (p.Thr433Asn) c.1307C>A (p.Thr436Asn) c.1400C>A (p.Thr467Asn) c.128C>A c.922+1871C>A (n.922+1871C>A) c.1295C>A (p.Thr432Asn) | |
19 | g.41424568C>G | CA406015621 | BCKDHA | c.1298C>G (p.Thr433Ser) c.1307C>G (p.Thr436Ser) c.1400C>G (p.Thr467Ser) c.128C>G c.922+1871C>G (n.922+1871C>G) c.1295C>G (p.Thr432Ser) | |
19 | g.41424568C>T | CA406015623 | BCKDHA | c.1298C>T (p.Thr433Ile) c.1307C>T (p.Thr436Ile) c.1400C>T (p.Thr467Ile) c.128C>T c.922+1871C>T (n.922+1871C>T) c.1295C>T (p.Thr432Ile) | gnomAD v4 |
19 | g.41424569C>A | CA507560728 | BCKDHA | c.1299C>A (p.Thr433=) c.1308C>A (p.Thr436=) c.1401C>A (p.Thr467=) c.129C>A c.922+1872C>A (n.922+1872C>A) c.1296C>A (p.Thr432=) | |
19 | g.41424569C>G | CA507560729 | BCKDHA | c.1299C>G (p.Thr433=) c.1308C>G (p.Thr436=) c.1401C>G (p.Thr467=) c.129C>G c.922+1872C>G (n.922+1872C>G) c.1296C>G (p.Thr432=) | |
19 | g.41424569C>T | CA507560730 | BCKDHA | c.1299C>T (p.Thr433=) c.1308C>T (p.Thr436=) c.1401C>T (p.Thr467=) c.129C>T c.922+1872C>T (n.922+1872C>T) c.1296C>T (p.Thr432=) | |
19 | g.41424570T>A | CA406015624 | BCKDHA | c.1300T>A (p.Tyr434Asn) c.1309T>A (p.Tyr437Asn) c.1402T>A (p.Tyr468Asn) c.130T>A c.922+1873T>A (n.922+1873T>A) c.1297T>A (p.Tyr433Asn) | |
19 | g.41424570T>C | CA406015625 | BCKDHA | c.1300T>C (p.Tyr434His) c.1309T>C (p.Tyr437His) c.1402T>C (p.Tyr468His) c.130T>C c.922+1873T>C (n.922+1873T>C) c.1297T>C (p.Tyr433His) | |
19 | g.41424570T>G | CA406015626 | BCKDHA | c.1300T>G (p.Tyr434Asp) c.1309T>G (p.Tyr437Asp) c.1402T>G (p.Tyr468Asp) c.130T>G c.922+1873T>G (n.922+1873T>G) c.1297T>G (p.Tyr433Asp) | |
19 | g.41424571A>C | CA406015629 | BCKDHA | c.1301A>C (p.Tyr434Ser) c.1310A>C (p.Tyr437Ser) c.1403A>C (p.Tyr468Ser) c.131A>C c.922+1874A>C (n.922+1874A>C) c.1298A>C (p.Tyr433Ser) | |
19 | g.41424571A>G | CA406015630 | BCKDHA | c.1301A>G (p.Tyr434Cys) c.1310A>G (p.Tyr437Cys) c.1403A>G (p.Tyr468Cys) c.131A>G c.922+1874A>G (n.922+1874A>G) c.1298A>G (p.Tyr433Cys) | |
19 | g.41424571A>T | CA406015631 | BCKDHA | c.1301A>T (p.Tyr434Phe) c.1310A>T (p.Tyr437Phe) c.1403A>T (p.Tyr468Phe) c.131A>T c.922+1874A>T (n.922+1874A>T) c.1298A>T (p.Tyr433Phe) | |
19 | g.41424572C>A | CA221184 | BCKDHA | c.1302C>A (p.Tyr434Ter) c.1311C>A (p.Tyr437Ter) c.1404C>A (p.Tyr468Ter) c.132C>A c.922+1875C>A (n.922+1875C>A) c.1299C>A (p.Tyr433Ter) | ClinVar dbSNP |
19 | g.41424572C= | CA2336460075 | BCKDHA | c.1302C= (p.Tyr434=) c.1311C= (p.Tyr437=) c.1404C= (p.Tyr468=) c.132C= c.922+1875C= (n.922+1875C=) c.1299C= (p.Tyr433=) | |
19 | g.41424572C>G | CA406015634 | BCKDHA | c.1302C>G (p.Tyr434Ter) c.1311C>G (p.Tyr437Ter) c.1404C>G (p.Tyr468Ter) c.132C>G c.922+1875C>G (n.922+1875C>G) c.1299C>G (p.Tyr433Ter) | |
19 | g.41424572C>T | CA9461423 | BCKDHA | c.1302C>T (p.Tyr434=) c.1311C>T (p.Tyr437=) c.1404C>T (p.Tyr468=) c.132C>T c.922+1875C>T (n.922+1875C>T) c.1299C>T (p.Tyr433=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424573G>A | CA308528132 | BCKDHA | c.1303G>A (p.Gly435Arg) c.1312G>A (p.Gly438Arg) c.1405G>A (p.Gly469Arg) c.133G>A c.922+1876G>A (n.922+1876G>A) c.1300G>A (p.Gly434Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424573G>C | CA9461424 | BCKDHA | c.1303G>C (p.Gly435Arg) c.1312G>C (p.Gly438Arg) c.1405G>C (p.Gly469Arg) c.133G>C c.922+1876G>C (n.922+1876G>C) c.1300G>C (p.Gly434Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424573G= | CA2336460076 | BCKDHA | c.1303G= (p.Gly435=) c.1312G= (p.Gly438=) c.1405G= (p.Gly469=) c.133G= c.922+1876G= (n.922+1876G=) c.1300G= (p.Gly434=) | |
19 | g.41424573G>T | CA406015638 | BCKDHA | c.1303G>T (p.Gly435Trp) c.1312G>T (p.Gly438Trp) c.1405G>T (p.Gly469Trp) c.133G>T c.922+1876G>T (n.922+1876G>T) c.1300G>T (p.Gly434Trp) | |
19 | g.41424574G>A | CA406015640 | BCKDHA | c.1304G>A (p.Gly435Glu) c.1313G>A (p.Gly438Glu) c.1406G>A (p.Gly469Glu) c.134G>A c.922+1877G>A (n.922+1877G>A) c.1301G>A (p.Gly434Glu) | |
19 | g.41424574G>C | CA406015643 | BCKDHA | c.1304G>C (p.Gly435Ala) c.1313G>C (p.Gly438Ala) c.1406G>C (p.Gly469Ala) c.134G>C c.922+1877G>C (n.922+1877G>C) c.1301G>C (p.Gly434Ala) | |
19 | g.41424574G>T | CA406015644 | BCKDHA | c.1304G>T (p.Gly435Val) c.1313G>T (p.Gly438Val) c.1406G>T (p.Gly469Val) c.134G>T c.922+1877G>T (n.922+1877G>T) c.1301G>T (p.Gly434Val) | |
19 | g.41424575G>A | CA507560732 | BCKDHA | c.1305G>A (p.Gly435=) c.1314G>A (p.Gly438=) c.1407G>A (p.Gly469=) c.135G>A c.922+1878G>A (n.922+1878G>A) c.1302G>A (p.Gly434=) | |
19 | g.41424575G>C | CA507560733 | BCKDHA | c.1305G>C (p.Gly435=) c.1314G>C (p.Gly438=) c.1407G>C (p.Gly469=) c.135G>C c.922+1878G>C (n.922+1878G>C) c.1302G>C (p.Gly434=) | |
19 | g.41424575G>T | CA507560734 | BCKDHA | c.1305G>T (p.Gly435=) c.1314G>T (p.Gly438=) c.1407G>T (p.Gly469=) c.135G>T c.922+1878G>T (n.922+1878G>T) c.1302G>T (p.Gly434=) | |
19 | g.41424576G>A | CA406015645 | BCKDHA | c.1306G>A (p.Glu436Lys) c.1315G>A (p.Glu439Lys) c.1408G>A (p.Glu470Lys) c.136G>A c.922+1879G>A (n.922+1879G>A) c.1303G>A (p.Glu435Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.41424576G>C | CA406015646 | BCKDHA | c.1306G>C (p.Glu436Gln) c.1315G>C (p.Glu439Gln) c.1408G>C (p.Glu470Gln) c.136G>C c.922+1879G>C (n.922+1879G>C) c.1303G>C (p.Glu435Gln) | |
19 | g.41424576G= | CA2336460077 | BCKDHA | c.1306G= (p.Glu436=) c.1315G= (p.Glu439=) c.1408G= (p.Glu470=) c.136G= c.922+1879G= (n.922+1879G=) c.1303G= (p.Glu435=) | |
19 | g.41424576G>T | CA406015648 | BCKDHA | c.1306G>T (p.Glu436Ter) c.1315G>T (p.Glu439Ter) c.1408G>T (p.Glu470Ter) c.136G>T c.922+1879G>T (n.922+1879G>T) c.1303G>T (p.Glu435Ter) | ClinVar dbSNP |
19 | g.41424577A>C | CA406015650 | BCKDHA | c.1307A>C (p.Glu436Ala) c.1316A>C (p.Glu439Ala) c.1409A>C (p.Glu470Ala) c.137A>C c.922+1880A>C (n.922+1880A>C) c.1304A>C (p.Glu435Ala) | |
19 | g.41424577A>G | CA406015653 | BCKDHA | c.1307A>G (p.Glu436Gly) c.1316A>G (p.Glu439Gly) c.1409A>G (p.Glu470Gly) c.137A>G c.922+1880A>G (n.922+1880A>G) c.1304A>G (p.Glu435Gly) | |
19 | g.41424577A>T | CA406015656 | BCKDHA | c.1307A>T (p.Glu436Val) c.1316A>T (p.Glu439Val) c.1409A>T (p.Glu470Val) c.137A>T c.922+1880A>T (n.922+1880A>T) c.1304A>T (p.Glu435Val) | |
19 | g.41424578G>A | CA507560735 | BCKDHA | c.1308G>A (p.Glu436=) c.1317G>A (p.Glu439=) c.1410G>A (p.Glu470=) c.138G>A c.922+1881G>A (n.922+1881G>A) c.1305G>A (p.Glu435=) | ClinVar dbSNP gnomAD v4 |
19 | g.41424578G>C | CA406015659 | BCKDHA | c.1308G>C (p.Glu436Asp) c.1317G>C (p.Glu439Asp) c.1410G>C (p.Glu470Asp) c.138G>C c.922+1881G>C (n.922+1881G>C) c.1305G>C (p.Glu435Asp) | |
19 | g.41424578G= | CA2336460078 | BCKDHA | c.1308G= (p.Glu436=) c.1317G= (p.Glu439=) c.1410G= (p.Glu470=) c.138G= c.922+1881G= (n.922+1881G=) c.1305G= (p.Glu435=) | |
19 | g.41424578G>T | CA9461425 | BCKDHA | c.1308G>T (p.Glu436Asp) c.1317G>T (p.Glu439Asp) c.1410G>T (p.Glu470Asp) c.138G>T c.922+1881G>T (n.922+1881G>T) c.1305G>T (p.Glu435Asp) | dbSNP ExAC gnomAD v2 |
19 | g.41424578_41424580delinsGCA | CA2336460080 | BCKDHA | c.1308_1310delinsGCA (p.Glu436=) c.1317_1319delinsGCA (p.Glu439=) c.1410_1412delinsGCA (p.Glu470=) c.138_140delinsGCA c.922+1881_922+1883delinsGCA (n.922+1881_922+1883delinsGCA) c.1305_1307delinsGCA (p.Glu435=) | |
19 | g.41424578_41424585delinsGCACTACC | CA2336460079 | BCKDHA | c.1308_1315delinsGCACTACC (p.Glu436=) c.1317_1324delinsGCACTACC (p.Glu439=) c.1410_1417delinsGCACTACC (p.Glu470=) c.138_145delinsGCACTACC c.922+1881_922+1888delinsGCACTACC (n.922+1881_922+1888delinsGCACTACC) c.1305_1312delinsGCACTACC (p.Glu435=) | |
19 | g.41424579C>A | CA406015673 | BCKDHA | c.1309C>A (p.His437Asn) c.1318C>A (p.His440Asn) c.1411C>A (p.His471Asn) c.139C>A c.922+1882C>A (n.922+1882C>A) c.1306C>A (p.His436Asn) | |
19 | g.41424579C>G | CA406015671 | BCKDHA | c.1309C>G (p.His437Asp) c.1318C>G (p.His440Asp) c.1411C>G (p.His471Asp) c.139C>G c.922+1882C>G (n.922+1882C>G) c.1306C>G (p.His436Asp) | |
19 | g.41424579C>T | CA406015666 | BCKDHA | c.1309C>T (p.His437Tyr) c.1318C>T (p.His440Tyr) c.1411C>T (p.His471Tyr) c.139C>T c.922+1882C>T (n.922+1882C>T) c.1306C>T (p.His436Tyr) | |
19 | g.41424580_41424581del | CA221186 | BCKDHA | c.1310_1311del (p.His437LeufsTer8) c.1319_1320del (p.His440LeufsTer8) c.1412_1413del (p.His471LeufsTer8) c.140_141del c.922+1883_922+1884del (n.922+1883_922+1884del) c.1307_1308del (p.His436LeufsTer8) | ClinVar dbSNP gnomAD v2 |
19 | g.41424583_41424589del | CA1139666462 | BCKDHA | c.1313_1319del (p.Tyr438TrpfsTer?) c.1322_1328del (p.Tyr441TrpfsTer?) c.1415_1421del (p.Tyr472TrpfsTer?) c.143_149del c.922+1886_922+1892del (n.922+1886_922+1892del) c.1310_1316del (p.Tyr437TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
19 | g.41424580A= | CA2336460081 | BCKDHA | c.1310A= (p.His437=) c.1319A= (p.His440=) c.1412A= (p.His471=) c.140A= c.922+1883A= (n.922+1883A=) c.1307A= (p.His436=) | |
19 | g.41424580A>C | CA406015676 | BCKDHA | c.1310A>C (p.His437Pro) c.1319A>C (p.His440Pro) c.1412A>C (p.His471Pro) c.140A>C c.922+1883A>C (n.922+1883A>C) c.1307A>C (p.His436Pro) | |
19 | g.41424580A>G | CA9461426 | BCKDHA | c.1310A>G (p.His437Arg) c.1319A>G (p.His440Arg) c.1412A>G (p.His471Arg) c.140A>G c.922+1883A>G (n.922+1883A>G) c.1307A>G (p.His436Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424580A>T | CA406015677 | BCKDHA | c.1310A>T (p.His437Leu) c.1319A>T (p.His440Leu) c.1412A>T (p.His471Leu) c.140A>T c.922+1883A>T (n.922+1883A>T) c.1307A>T (p.His436Leu) | |
19 | g.41424581C>A | CA406015679 | BCKDHA | c.1311C>A (p.His437Gln) c.1320C>A (p.His440Gln) c.1413C>A (p.His471Gln) c.141C>A c.922+1884C>A (n.922+1884C>A) c.1308C>A (p.His436Gln) | |
19 | g.41424581C= | CA2336460082 | BCKDHA | c.1311C= (p.His437=) c.1320C= (p.His440=) c.1413C= (p.His471=) c.141C= c.922+1884C= (n.922+1884C=) c.1308C= (p.His436=) | |
19 | g.41424581C>G | CA406015680 | BCKDHA | c.1311C>G (p.His437Gln) c.1320C>G (p.His440Gln) c.1413C>G (p.His471Gln) c.141C>G c.922+1884C>G (n.922+1884C>G) c.1308C>G (p.His436Gln) | dbSNP gnomAD v4 |
19 | g.41424581C>T | CA9461427 | BCKDHA | c.1311C>T (p.His437=) c.1320C>T (p.His440=) c.1413C>T (p.His471=) c.141C>T c.922+1884C>T (n.922+1884C>T) c.1308C>T (p.His436=) | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.41424582T>A | CA115507 | BCKDHA | c.1312T>A (p.Tyr438Asn) c.1321T>A (p.Tyr441Asn) c.1414T>A (p.Tyr472Asn) c.142T>A c.922+1885T>A (n.922+1885T>A) c.1309T>A (p.Tyr437Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424582T>C | CA406015686 | BCKDHA | c.1312T>C (p.Tyr438His) c.1321T>C (p.Tyr441His) c.1414T>C (p.Tyr472His) c.142T>C c.922+1885T>C (n.922+1885T>C) c.1309T>C (p.Tyr437His) | ClinVar dbSNP |
19 | g.41424582T>G | CA406015689 | BCKDHA | c.1312T>G (p.Tyr438Asp) c.1321T>G (p.Tyr441Asp) c.1414T>G (p.Tyr472Asp) c.142T>G c.922+1885T>G (n.922+1885T>G) c.1309T>G (p.Tyr437Asp) | |
19 | g.41424582T= | CA2336460083 | BCKDHA | c.1312T= (p.Tyr438=) c.1321T= (p.Tyr441=) c.1414T= (p.Tyr472=) c.142T= c.922+1885T= (n.922+1885T=) c.1309T= (p.Tyr437=) | |
19 | g.41424583A>C | CA406015692 | BCKDHA | c.1313A>C (p.Tyr438Ser) c.1322A>C (p.Tyr441Ser) c.1415A>C (p.Tyr472Ser) c.143A>C c.922+1886A>C (n.922+1886A>C) c.1310A>C (p.Tyr437Ser) | |
19 | g.41424583A>G | CA406015694 | BCKDHA | c.1313A>G (p.Tyr438Cys) c.1322A>G (p.Tyr441Cys) c.1415A>G (p.Tyr472Cys) c.143A>G c.922+1886A>G (n.922+1886A>G) c.1310A>G (p.Tyr437Cys) | gnomAD v4 |
19 | g.41424583A>T | CA406015697 | BCKDHA | c.1313A>T (p.Tyr438Phe) c.1322A>T (p.Tyr441Phe) c.1415A>T (p.Tyr472Phe) c.143A>T c.922+1886A>T (n.922+1886A>T) c.1310A>T (p.Tyr437Phe) | |
19 | g.41424584C>A | CA221187 | BCKDHA | c.1314C>A (p.Tyr438Ter) c.1323C>A (p.Tyr441Ter) c.1416C>A (p.Tyr472Ter) c.144C>A c.922+1887C>A (n.922+1887C>A) c.1311C>A (p.Tyr437Ter) | ClinVar dbSNP |
19 | g.41424584C= | CA2336460084 | BCKDHA | c.1314C= (p.Tyr438=) c.1323C= (p.Tyr441=) c.1416C= (p.Tyr472=) c.144C= c.922+1887C= (n.922+1887C=) c.1311C= (p.Tyr437=) | |
19 | g.41424584C>G | CA406015701 | BCKDHA | c.1314C>G (p.Tyr438Ter) c.1323C>G (p.Tyr441Ter) c.1416C>G (p.Tyr472Ter) c.144C>G c.922+1887C>G (n.922+1887C>G) c.1311C>G (p.Tyr437Ter) | |
19 | g.41424584C>T | CA507560737 | BCKDHA | c.1314C>T (p.Tyr438=) c.1323C>T (p.Tyr441=) c.1416C>T (p.Tyr472=) c.144C>T c.922+1887C>T (n.922+1887C>T) c.1311C>T (p.Tyr437=) | ClinVar dbSNP gnomAD v4 |
19 | g.41424585C>A | CA406015711 | BCKDHA | c.1315C>A (p.Pro439Thr) c.1324C>A (p.Pro442Thr) c.1417C>A (p.Pro473Thr) c.145C>A c.922+1888C>A (n.922+1888C>A) c.1312C>A (p.Pro438Thr) | |
19 | g.41424585C= | CA2336460085 | BCKDHA | c.1315C= (p.Pro439=) c.1324C= (p.Pro442=) c.1417C= (p.Pro473=) c.145C= c.922+1888C= (n.922+1888C=) c.1312C= (p.Pro438=) | |
19 | g.41424585C>G | CA9461428 | BCKDHA | c.1315C>G (p.Pro439Ala) c.1324C>G (p.Pro442Ala) c.1417C>G (p.Pro473Ala) c.145C>G c.922+1888C>G (n.922+1888C>G) c.1312C>G (p.Pro438Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.41424585C>T | CA406015713 | BCKDHA | c.1315C>T (p.Pro439Ser) c.1324C>T (p.Pro442Ser) c.1417C>T (p.Pro473Ser) c.145C>T c.922+1888C>T (n.922+1888C>T) c.1312C>T (p.Pro438Ser) | |
19 | g.41424586C>A | CA406015719 | BCKDHA | c.1316C>A (p.Pro439Gln) c.1325C>A (p.Pro442Gln) c.1418C>A (p.Pro473Gln) c.146C>A c.922+1889C>A (n.922+1889C>A) c.1313C>A (p.Pro438Gln) | |
19 | g.41424586C= | CA2336460086 | BCKDHA | c.1316C= (p.Pro439=) c.1325C= (p.Pro442=) c.1418C= (p.Pro473=) c.146C= c.922+1889C= (n.922+1889C=) c.1313C= (p.Pro438=) | |
19 | g.41424586C>G | CA406015722 | BCKDHA | c.1316C>G (p.Pro439Arg) c.1325C>G (p.Pro442Arg) c.1418C>G (p.Pro473Arg) c.146C>G c.922+1889C>G (n.922+1889C>G) c.1313C>G (p.Pro438Arg) | |
19 | g.41424586C>T | CA308528208 | BCKDHA | c.1316C>T (p.Pro439Leu) c.1325C>T (p.Pro442Leu) c.1418C>T (p.Pro473Leu) c.146C>T c.922+1889C>T (n.922+1889C>T) c.1313C>T (p.Pro438Leu) | dbSNP |
19 | g.41424587A= | CA2336460087 | BCKDHA | c.1317A= (p.Pro439=) c.1326A= (p.Pro442=) c.1419A= (p.Pro473=) c.147A= c.922+1890A= (n.922+1890A=) c.1314A= (p.Pro438=) | |
19 | g.41424587A>C | CA507560738 | BCKDHA | c.1317A>C (p.Pro439=) c.1326A>C (p.Pro442=) c.1419A>C (p.Pro473=) c.147A>C c.922+1890A>C (n.922+1890A>C) c.1314A>C (p.Pro438=) | ClinVar dbSNP |
19 | g.41424587A>G | CA9461429 | BCKDHA | c.1317A>G (p.Pro439=) c.1326A>G (p.Pro442=) c.1419A>G (p.Pro473=) c.147A>G c.922+1890A>G (n.922+1890A>G) c.1314A>G (p.Pro438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424587A>T | CA507560739 | BCKDHA | c.1317A>T (p.Pro439=) c.1326A>T (p.Pro442=) c.1419A>T (p.Pro473=) c.147A>T c.922+1890A>T (n.922+1890A>T) c.1314A>T (p.Pro438=) | |
19 | g.41424588C>A | CA406015733 | BCKDHA | c.1318C>A (p.Leu440Met) c.1327C>A (p.Leu443Met) c.1420C>A (p.Leu474Met) c.148C>A c.922+1891C>A (n.922+1891C>A) c.1315C>A (p.Leu439Met) | |
19 | g.41424588C= | CA2336460088 | BCKDHA | c.1318C= (p.Leu440=) c.1327C= (p.Leu443=) c.1420C= (p.Leu474=) c.148C= c.922+1891C= (n.922+1891C=) c.1315C= (p.Leu439=) | |
19 | g.41424588C>G | CA406015736 | BCKDHA | c.1318C>G (p.Leu440Val) c.1327C>G (p.Leu443Val) c.1420C>G (p.Leu474Val) c.148C>G c.922+1891C>G (n.922+1891C>G) c.1315C>G (p.Leu439Val) | gnomAD v4 |
19 | g.41424588C>T | CA507560740 | BCKDHA | c.1318C>T (p.Leu440=) c.1327C>T (p.Leu443=) c.1420C>T (p.Leu474=) c.148C>T c.922+1891C>T (n.922+1891C>T) c.1315C>T (p.Leu439=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424589T>A | CA406015740 | BCKDHA | c.1319T>A (p.Leu440Gln) c.1328T>A (p.Leu443Gln) c.1421T>A (p.Leu474Gln) c.149T>A c.922+1892T>A (n.922+1892T>A) c.1316T>A (p.Leu439Gln) | |
19 | g.41424589T>C | CA406015742 | BCKDHA | c.1319T>C (p.Leu440Pro) c.1328T>C (p.Leu443Pro) c.1421T>C (p.Leu474Pro) c.149T>C c.922+1892T>C (n.922+1892T>C) c.1316T>C (p.Leu439Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424589T>G | CA406015744 | BCKDHA | c.1319T>G (p.Leu440Arg) c.1328T>G (p.Leu443Arg) c.1421T>G (p.Leu474Arg) c.149T>G c.922+1892T>G (n.922+1892T>G) c.1316T>G (p.Leu439Arg) | |
19 | g.41424589T= | CA2336460089 | BCKDHA | c.1319T= (p.Leu440=) c.1328T= (p.Leu443=) c.1421T= (p.Leu474=) c.149T= c.922+1892T= (n.922+1892T=) c.1316T= (p.Leu439=) | |
19 | g.41424590G>A | CA9461430 | BCKDHA | c.1320G>A (p.Leu440=) c.1329G>A (p.Leu443=) c.1422G>A (p.Leu474=) c.150G>A c.922+1893G>A (n.922+1893G>A) c.1317G>A (p.Leu439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424590G>C | CA507560742 | BCKDHA | c.1320G>C (p.Leu440=) c.1329G>C (p.Leu443=) c.1422G>C (p.Leu474=) c.150G>C c.922+1893G>C (n.922+1893G>C) c.1317G>C (p.Leu439=) | |
19 | g.41424590G= | CA2336460090 | BCKDHA | c.1320G= (p.Leu440=) c.1329G= (p.Leu443=) c.1422G= (p.Leu474=) c.150G= c.922+1893G= (n.922+1893G=) c.1317G= (p.Leu439=) | |
19 | g.41424590G>T | CA507560741 | BCKDHA | c.1320G>T (p.Leu440=) c.1329G>T (p.Leu443=) c.1422G>T (p.Leu474=) c.150G>T c.922+1893G>T (n.922+1893G>T) c.1317G>T (p.Leu439=) | |
19 | g.41424591G>A | CA406015748 | BCKDHA | c.1321G>A (p.Asp441Asn) c.1330G>A (p.Asp444Asn) c.1423G>A (p.Asp475Asn) c.151G>A c.922+1894G>A (n.922+1894G>A) c.1318G>A (p.Asp440Asn) | gnomAD v4 |
19 | g.41424591G>C | CA406015751 | BCKDHA | c.1321G>C (p.Asp441His) c.1330G>C (p.Asp444His) c.1423G>C (p.Asp475His) c.151G>C c.922+1894G>C (n.922+1894G>C) c.1318G>C (p.Asp440His) | |
19 | g.41424591G>T | CA406015755 | BCKDHA | c.1321G>T (p.Asp441Tyr) c.1330G>T (p.Asp444Tyr) c.1423G>T (p.Asp475Tyr) c.151G>T c.922+1894G>T (n.922+1894G>T) c.1318G>T (p.Asp440Tyr) | |
19 | g.41424592A>C | CA406015759 | BCKDHA | c.1322A>C (p.Asp441Ala) c.1331A>C (p.Asp444Ala) c.1424A>C (p.Asp475Ala) c.152A>C c.922+1895A>C (n.922+1895A>C) c.1319A>C (p.Asp440Ala) | |
19 | g.41424592A>G | CA406015763 | BCKDHA | c.1322A>G (p.Asp441Gly) c.1331A>G (p.Asp444Gly) c.1424A>G (p.Asp475Gly) c.152A>G c.922+1895A>G (n.922+1895A>G) c.1319A>G (p.Asp440Gly) | |
19 | g.41424592A>T | CA406015762 | BCKDHA | c.1322A>T (p.Asp441Val) c.1331A>T (p.Asp444Val) c.1424A>T (p.Asp475Val) c.152A>T c.922+1895A>T (n.922+1895A>T) c.1319A>T (p.Asp440Val) | |
19 | g.41424593T>A | CA406015769 | BCKDHA | c.1323T>A (p.Asp441Glu) c.1332T>A (p.Asp444Glu) c.1425T>A (p.Asp475Glu) c.153T>A c.922+1896T>A (n.922+1896T>A) c.1320T>A (p.Asp440Glu) | |
19 | g.41424593T>C | CA507560743 | BCKDHA | c.1323T>C (p.Asp441=) c.1332T>C (p.Asp444=) c.1425T>C (p.Asp475=) c.153T>C c.922+1896T>C (n.922+1896T>C) c.1320T>C (p.Asp440=) | |
19 | g.41424593T>G | CA406015771 | BCKDHA | c.1323T>G (p.Asp441Glu) c.1332T>G (p.Asp444Glu) c.1425T>G (p.Asp475Glu) c.153T>G c.922+1896T>G (n.922+1896T>G) c.1320T>G (p.Asp440Glu) | |
19 | g.41424594C>A | CA406015773 | BCKDHA | c.1324C>A (p.His442Asn) c.1333C>A (p.His445Asn) c.1426C>A (p.His476Asn) c.154C>A c.922+1897C>A (n.922+1897C>A) c.1321C>A (p.His441Asn) | gnomAD v4 |
19 | g.41424594C= | CA2336460091 | BCKDHA | c.1324C= (p.His442=) c.1333C= (p.His445=) c.1426C= (p.His476=) c.154C= c.922+1897C= (n.922+1897C=) c.1321C= (p.His441=) | |
19 | g.41424594C>G | CA9461431 | BCKDHA | c.1324C>G (p.His442Asp) c.1333C>G (p.His445Asp) c.1426C>G (p.His476Asp) c.154C>G c.922+1897C>G (n.922+1897C>G) c.1321C>G (p.His441Asp) | dbSNP ExAC gnomAD v2 |
19 | g.41424594C>T | CA406015777 | BCKDHA | c.1324C>T (p.His442Tyr) c.1333C>T (p.His445Tyr) c.1426C>T (p.His476Tyr) c.154C>T c.922+1897C>T (n.922+1897C>T) c.1321C>T (p.His441Tyr) | dbSNP gnomAD v4 |
19 | g.41424595A>C | CA406015789 | BCKDHA | c.1325A>C (p.His442Pro) c.1334A>C (p.His445Pro) c.1427A>C (p.His476Pro) c.155A>C c.922+1898A>C (n.922+1898A>C) c.1322A>C (p.His441Pro) | |
19 | g.41424595A>G | CA406015792 | BCKDHA | c.1325A>G (p.His442Arg) c.1334A>G (p.His445Arg) c.1427A>G (p.His476Arg) c.155A>G c.922+1898A>G (n.922+1898A>G) c.1322A>G (p.His441Arg) | |
19 | g.41424595A>T | CA406015795 | BCKDHA | c.1325A>T (p.His442Leu) c.1334A>T (p.His445Leu) c.1427A>T (p.His476Leu) c.155A>T c.922+1898A>T (n.922+1898A>T) c.1322A>T (p.His441Leu) | |
19 | g.41424596C>A | CA406015799 | BCKDHA | c.1326C>A (p.His442Gln) c.1335C>A (p.His445Gln) c.1428C>A (p.His476Gln) c.156C>A c.922+1899C>A (n.922+1899C>A) c.1323C>A (p.His441Gln) | |
19 | g.41424596C>G | CA406015802 | BCKDHA | c.1326C>G (p.His442Gln) c.1335C>G (p.His445Gln) c.1428C>G (p.His476Gln) c.156C>G c.922+1899C>G (n.922+1899C>G) c.1323C>G (p.His441Gln) | gnomAD v4 |
19 | g.41424596C>T | CA507560744 | BCKDHA | c.1326C>T (p.His442=) c.1335C>T (p.His445=) c.1428C>T (p.His476=) c.156C>T c.922+1899C>T (n.922+1899C>T) c.1323C>T (p.His441=) | |
19 | g.41424597T>A | CA406015807 | BCKDHA | c.1327T>A (p.Phe443Ile) c.1336T>A (p.Phe446Ile) c.1429T>A (p.Phe477Ile) c.157T>A c.922+1900T>A (n.922+1900T>A) c.1324T>A (p.Phe442Ile) | |
19 | g.41424597T>C | CA406015810 | BCKDHA | c.1327T>C (p.Phe443Leu) c.1336T>C (p.Phe446Leu) c.1429T>C (p.Phe477Leu) c.157T>C c.922+1900T>C (n.922+1900T>C) c.1324T>C (p.Phe442Leu) | dbSNP gnomAD v2 |
19 | g.41424597T>G | CA406015805 | BCKDHA | c.1327T>G (p.Phe443Val) c.1336T>G (p.Phe446Val) c.1429T>G (p.Phe477Val) c.157T>G c.922+1900T>G (n.922+1900T>G) c.1324T>G (p.Phe442Val) | gnomAD v4 |
19 | g.41424597T= | CA2336460092 | BCKDHA | c.1327T= (p.Phe443=) c.1336T= (p.Phe446=) c.1429T= (p.Phe477=) c.157T= c.922+1900T= (n.922+1900T=) c.1324T= (p.Phe442=) | |
19 | g.41424598T>A | CA406015813 | BCKDHA | c.1328T>A (p.Phe443Tyr) c.1337T>A (p.Phe446Tyr) c.1430T>A (p.Phe477Tyr) c.158T>A c.922+1901T>A (n.922+1901T>A) c.1325T>A (p.Phe442Tyr) | |
19 | g.41424598T>C | CA406015817 | BCKDHA | c.1328T>C (p.Phe443Ser) c.1337T>C (p.Phe446Ser) c.1430T>C (p.Phe477Ser) c.158T>C c.922+1901T>C (n.922+1901T>C) c.1325T>C (p.Phe442Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424598T>G | CA406015821 | BCKDHA | c.1328T>G (p.Phe443Cys) c.1337T>G (p.Phe446Cys) c.1430T>G (p.Phe477Cys) c.158T>G c.922+1901T>G (n.922+1901T>G) c.1325T>G (p.Phe442Cys) | |
19 | g.41424598T= | CA2336460093 | BCKDHA | c.1328T= (p.Phe443=) c.1337T= (p.Phe446=) c.1430T= (p.Phe477=) c.158T= c.922+1901T= (n.922+1901T=) c.1325T= (p.Phe442=) | |
19 | g.41424599C>A | CA406015825 | BCKDHA | c.1329C>A (p.Phe443Leu) c.1338C>A (p.Phe446Leu) c.1431C>A (p.Phe477Leu) c.159C>A c.922+1902C>A (n.922+1902C>A) c.1326C>A (p.Phe442Leu) | |
19 | g.41424599C= | CA2336460094 | BCKDHA | c.1329C= (p.Phe443=) c.1338C= (p.Phe446=) c.1431C= (p.Phe477=) c.159C= c.922+1902C= (n.922+1902C=) c.1326C= (p.Phe442=) | |
19 | g.41424599C>G | CA406015827 | BCKDHA | c.1329C>G (p.Phe443Leu) c.1338C>G (p.Phe446Leu) c.1431C>G (p.Phe477Leu) c.159C>G c.922+1902C>G (n.922+1902C>G) c.1326C>G (p.Phe442Leu) | gnomAD v4 |
19 | g.41424599C>T | CA9461432 | BCKDHA | c.1329C>T (p.Phe443=) c.1338C>T (p.Phe446=) c.1431C>T (p.Phe477=) c.159C>T c.922+1902C>T (n.922+1902C>T) c.1326C>T (p.Phe442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424600G>A | CA9461433 | BCKDHA | c.1330G>A (p.Asp444Asn) c.1339G>A (p.Asp447Asn) c.1432G>A (p.Asp478Asn) c.160G>A c.922+1903G>A (n.922+1903G>A) c.1327G>A (p.Asp443Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424600G>C | CA406015833 | BCKDHA | c.1330G>C (p.Asp444His) c.1339G>C (p.Asp447His) c.1432G>C (p.Asp478His) c.160G>C c.922+1903G>C (n.922+1903G>C) c.1327G>C (p.Asp443His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424600G= | CA2336460095 | BCKDHA | c.1330G= (p.Asp444=) c.1339G= (p.Asp447=) c.1432G= (p.Asp478=) c.160G= c.922+1903G= (n.922+1903G=) c.1327G= (p.Asp443=) | |
19 | g.41424600G>T | CA406015837 | BCKDHA | c.1330G>T (p.Asp444Tyr) c.1339G>T (p.Asp447Tyr) c.1432G>T (p.Asp478Tyr) c.160G>T c.922+1903G>T (n.922+1903G>T) c.1327G>T (p.Asp443Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424601A= | CA2336460096 | BCKDHA | c.1331A= (p.Asp444=) c.1340A= (p.Asp447=) c.1433A= (p.Asp478=) c.161A= c.922+1904A= (n.922+1904A=) c.1328A= (p.Asp443=) | |
19 | g.41424601A>C | CA406015840 | BCKDHA | c.1331A>C (p.Asp444Ala) c.1340A>C (p.Asp447Ala) c.1433A>C (p.Asp478Ala) c.161A>C c.922+1904A>C (n.922+1904A>C) c.1328A>C (p.Asp443Ala) | |
19 | g.41424601A>G | CA9461434 | BCKDHA | c.1331A>G (p.Asp444Gly) c.1340A>G (p.Asp447Gly) c.1433A>G (p.Asp478Gly) c.161A>G c.922+1904A>G (n.922+1904A>G) c.1328A>G (p.Asp443Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424601A>T | CA406015843 | BCKDHA | c.1331A>T (p.Asp444Val) c.1340A>T (p.Asp447Val) c.1433A>T (p.Asp478Val) c.161A>T c.922+1904A>T (n.922+1904A>T) c.1328A>T (p.Asp443Val) | gnomAD v4 |
19 | g.41424602T>A | CA406015849 | BCKDHA | c.1332T>A (p.Asp444Glu) c.1341T>A (p.Asp447Glu) c.1434T>A (p.Asp478Glu) c.162T>A c.922+1905T>A (n.922+1905T>A) c.1329T>A (p.Asp443Glu) | |
19 | g.41424602T>C | CA507560746 | BCKDHA | c.1332T>C (p.Asp444=) c.1341T>C (p.Asp447=) c.1434T>C (p.Asp478=) c.162T>C c.922+1905T>C (n.922+1905T>C) c.1329T>C (p.Asp443=) | ClinVar gnomAD v4 |
19 | g.41424602T>G | CA406015851 | BCKDHA | c.1332T>G (p.Asp444Glu) c.1341T>G (p.Asp447Glu) c.1434T>G (p.Asp478Glu) c.162T>G c.922+1905T>G (n.922+1905T>G) c.1329T>G (p.Asp443Glu) | gnomAD v4 |
19 | g.41424603A>C | CA406015856 | BCKDHA | c.1333A>C (p.Lys445Gln) c.1342A>C (p.Lys448Gln) c.1435A>C (p.Lys479Gln) c.163A>C c.922+1906A>C (n.922+1906A>C) c.1330A>C (p.Lys444Gln) | |
19 | g.41424603A>G | CA406015862 | BCKDHA | c.1333A>G (p.Lys445Glu) c.1342A>G (p.Lys448Glu) c.1435A>G (p.Lys479Glu) c.163A>G c.922+1906A>G (n.922+1906A>G) c.1330A>G (p.Lys444Glu) | |
19 | g.41424603A>T | CA406015859 | BCKDHA | c.1333A>T (p.Lys445Ter) c.1342A>T (p.Lys448Ter) c.1435A>T (p.Lys479Ter) c.163A>T c.922+1906A>T (n.922+1906A>T) c.1330A>T (p.Lys444Ter) | |
19 | g.41424604A>C | CA406015865 | BCKDHA | c.1334A>C (p.Lys445Thr) c.1343A>C (p.Lys448Thr) c.1436A>C (p.Lys479Thr) c.164A>C c.922+1907A>C (n.922+1907A>C) c.1331A>C (p.Lys444Thr) | |
19 | g.41424604A>G | CA406015867 | BCKDHA | c.1334A>G (p.Lys445Arg) c.1343A>G (p.Lys448Arg) c.1436A>G (p.Lys479Arg) c.164A>G c.922+1907A>G (n.922+1907A>G) c.1331A>G (p.Lys444Arg) | gnomAD v4 |
19 | g.41424604A>T | CA406015872 | BCKDHA | c.1334A>T (p.Lys445Met) c.1343A>T (p.Lys448Met) c.1436A>T (p.Lys479Met) c.164A>T c.922+1907A>T (n.922+1907A>T) c.1331A>T (p.Lys444Met) | |
19 | g.41424605G>A | CA507560747 | BCKDHA | c.1335G>A (p.Lys445=) c.1344G>A (p.Lys448=) c.1437G>A (p.Lys479=) c.165G>A c.922+1908G>A (n.922+1908G>A) c.1332G>A (p.Lys444=) | ClinVar |
19 | g.41424605G>C | CA406015876 | BCKDHA | c.1335G>C (p.Lys445Asn) c.1344G>C (p.Lys448Asn) c.1437G>C (p.Lys479Asn) c.165G>C c.922+1908G>C (n.922+1908G>C) c.1332G>C (p.Lys444Asn) | |
19 | g.41424605G>T | CA406015878 | BCKDHA | c.1335G>T (p.Lys445Asn) c.1344G>T (p.Lys448Asn) c.1437G>T (p.Lys479Asn) c.165G>T c.922+1908G>T (n.922+1908G>T) c.1332G>T (p.Lys444Asn) | |
19 | g.41424606T>A | CA406015882 | BCKDHA | c.1336T>A (p.Ter446Arg) c.1345T>A (p.Ter449Arg) c.1438T>A (p.Ter480Arg) c.166T>A c.922+1909T>A (n.922+1909T>A) c.1333T>A (p.Ter445Arg) | |
19 | g.41424606T>C | CA406015885 | BCKDHA | c.1336T>C (p.Ter446Arg) c.1345T>C (p.Ter449Arg) c.1438T>C (p.Ter480Arg) c.166T>C c.922+1909T>C (n.922+1909T>C) c.1333T>C (p.Ter445Arg) | |
19 | g.41424606T>G | CA406015887 | BCKDHA | c.1336T>G (p.Ter446Gly) c.1345T>G (p.Ter449Gly) c.1438T>G (p.Ter480Gly) c.166T>G c.922+1909T>G (n.922+1909T>G) c.1333T>G (p.Ter445Gly) | |
19 | g.41424607G>A | CA507560748 | BCKDHA | c.1337G>A (p.Ter446=) c.1346G>A (p.Ter449=) c.1439G>A (p.Ter480=) c.167G>A c.922+1910G>A (n.922+1910G>A) c.1334G>A (p.Ter445=) | dbSNP |
19 | g.41424607G>C | CA406015889 | BCKDHA | c.1337G>C (p.Ter446Ser) c.1346G>C (p.Ter449Ser) c.1439G>C (p.Ter480Ser) c.167G>C c.922+1910G>C (n.922+1910G>C) c.1334G>C (p.Ter445Ser) | |
19 | g.41424607G= | CA2336460097 | BCKDHA | c.1337G= (p.Ter446=) c.1346G= (p.Ter449=) c.1439G= (p.Ter480=) c.167G= c.922+1910G= (n.922+1910G=) c.1334G= (p.Ter445=) | |
19 | g.41424607G>T | CA406015892 | BCKDHA | c.1337G>T (p.Ter446Leu) c.1346G>T (p.Ter449Leu) c.1439G>T (p.Ter480Leu) c.167G>T c.922+1910G>T (n.922+1910G>T) c.1334G>T (p.Ter445Leu) | |
19 | g.41424608A>C | CA406015897 | BCKDHA | c.1338A>C (p.Ter446Cys) c.1347A>C (p.Ter449Cys) c.1440A>C (p.Ter480Cys) c.168A>C c.922+1911A>C (n.922+1911A>C) c.1335A>C (p.Ter445Cys) | |
19 | g.41424608A>G | CA406015900 | BCKDHA | c.1338A>G (p.Ter446Trp) c.1347A>G (p.Ter449Trp) c.1440A>G (p.Ter480Trp) c.168A>G c.922+1911A>G (n.922+1911A>G) c.1335A>G (p.Ter445Trp) | |
19 | g.41424608A>T | CA406015902 | BCKDHA | c.1338A>T (p.Ter446Cys) c.1347A>T (p.Ter449Cys) c.1440A>T (p.Ter480Cys) c.168A>T c.922+1911A>T (n.922+1911A>T) c.1335A>T (p.Ter445Cys) | |
19 | g.41424609G>A | CA2739614033 | BCKDHA | c.*1G>A (n.*1G>A) c.169G>A c.922+1912G>A (n.922+1912G>A) | |
19 | g.41424609G>C | CA2739614034 | BCKDHA | c.*1G>C (n.*1G>C) c.169G>C c.922+1912G>C (n.922+1912G>C) | |
19 | g.41424609G>T | CA2739614035 | BCKDHA | c.*1G>T (n.*1G>T) c.169G>T c.922+1912G>T (n.922+1912G>T) | |
19 | g.41424610A>C | CA2739614036 | BCKDHA | c.*2A>C (n.*2A>C) c.170A>C c.922+1913A>C (n.922+1913A>C) | |
19 | g.41424610A>G | CA2739614037 | BCKDHA | c.*2A>G (n.*2A>G) c.170A>G c.922+1913A>G (n.922+1913A>G) | |
19 | g.41424610A>T | CA2739614038 | BCKDHA | c.*2A>T (n.*2A>T) c.170A>T c.922+1913A>T (n.922+1913A>T) | |
19 | g.41424611C>A | CA2585308448 | BCKDHA | c.*3C>A (n.*3C>A) c.171C>A c.922+1914C>A (n.922+1914C>A) | gnomAD v4 |
19 | g.41424611C= | CA2336460098 | BCKDHA | c.*3C= (n.*3C=) c.171C= c.922+1914C= (n.922+1914C=) | |
19 | g.41424611C>G | CA2739614039 | BCKDHA | c.*3C>G (n.*3C>G) c.171C>G c.922+1914C>G (n.922+1914C>G) | |
19 | g.41424611C>T | CA633470495 | BCKDHA | c.*3C>T (n.*3C>T) c.171C>T c.922+1914C>T (n.922+1914C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424612C>A | CA2739614040 | BCKDHA | c.*4C>A (n.*4C>A) c.172C>A c.922+1915C>A (n.922+1915C>A) | |
19 | g.41424612C>G | CA2739614041 | BCKDHA | c.*4C>G (n.*4C>G) c.172C>G c.922+1915C>G (n.922+1915C>G) | |
19 | g.41424613T>A | CA2739614043 | BCKDHA | c.*5T>A (n.*5T>A) c.173T>A c.922+1916T>A (n.922+1916T>A) | |
19 | g.41424613T>C | CA2576793881 | BCKDHA | c.*5T>C (n.*5T>C) c.173T>C c.922+1916T>C (n.922+1916T>C) | |
19 | g.41424613T>G | CA2739614042 | BCKDHA | c.*5T>G (n.*5T>G) c.173T>G c.922+1916T>G (n.922+1916T>G) | |
19 | g.41424614G>A | CA633470496 | BCKDHA | c.*6G>A (n.*6G>A) c.174G>A c.922+1917G>A (n.922+1917G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424614G>C | CA2814427883 | BCKDHA | c.*6G>C (n.*6G>C) c.174G>C c.922+1917G>C (n.922+1917G>C) | |
19 | g.41424614G= | CA2336460099 | BCKDHA | c.*6G= (n.*6G=) c.174G= c.922+1917G= (n.922+1917G=) | |
19 | g.41424614G>T | CA2839583412 | BCKDHA | c.*6G>T (n.*6G>T) c.174G>T c.922+1917G>T (n.922+1917G>T) | |
19 | g.41424615C>A | CA2739614044 | BCKDHA | c.*7C>A (n.*7C>A) c.175C>A c.922+1918C>A (n.922+1918C>A) | |
19 | g.41424615C>G | CA2739614045 | BCKDHA | c.*7C>G (n.*7C>G) c.175C>G c.922+1918C>G (n.922+1918C>G) | |
19 | g.41424615C>T | CA2739614046 | BCKDHA | c.*7C>T (n.*7C>T) c.175C>T c.922+1918C>T (n.922+1918C>T) | |
19 | g.41424616T>A | CA2739614047 | BCKDHA | c.*8T>A (n.*8T>A) c.176T>A c.922+1919T>A (n.922+1919T>A) | |
19 | g.41424616T>C | CA2739614048 | BCKDHA | c.*8T>C (n.*8T>C) c.176T>C c.922+1919T>C (n.922+1919T>C) | |
19 | g.41424616T>G | CA2739614049 | BCKDHA | c.*8T>G (n.*8T>G) c.176T>G c.922+1919T>G (n.922+1919T>G) | |
19 | g.41424617C>T | CA2585308449 | BCKDHA | c.*9C>T (n.*9C>T) c.177C>T c.922+1920C>T (n.922+1920C>T) | gnomAD v4 |
19 | g.41424618A= | CA2336460100 | BCKDHA | c.*10A= (n.*10A=) c.178A= c.922+1921A= (n.922+1921A=) | |
19 | g.41424618A>C | CA2739614050 | BCKDHA | c.*10A>C (n.*10A>C) c.178A>C c.922+1921A>C (n.922+1921A>C) | |
19 | g.41424618A>G | CA2585308450 | BCKDHA | c.*10A>G (n.*10A>G) c.178A>G c.922+1921A>G (n.922+1921A>G) | gnomAD v4 |
19 | g.41424618A>T | CA2739614051 | BCKDHA | c.*10A>T (n.*10A>T) c.178A>T c.922+1921A>T (n.922+1921A>T) | |
19 | g.41424618_41424619insAAG | CA2336460101 | BCKDHA | c.*10_*11insAAG (n.*10_*11insAAG) c.178_179insAAG c.922+1921_922+1922insAAG (n.922+1921_922+1922insAAG) | dbSNP |
19 | g.41424618_41424619insAAAACAC | CA2814427886 | BCKDHA | c.*10_*11insAAAACAC (n.*10_*11insAAAACAC) c.178_179insAAAACAC c.922+1921_922+1922insAAAACAC (n.922+1921_922+1922insAAAACAC) | |
19 | g.41424619G>A | CA2739614052 | BCKDHA | c.*11G>A (n.*11G>A) c.179G>A c.922+1922G>A (n.922+1922G>A) | |
19 | g.41424619G>C | CA2739614053 | BCKDHA | c.*11G>C (n.*11G>C) c.179G>C c.922+1922G>C (n.922+1922G>C) | |
19 | g.41424619G>T | CA2739614054 | BCKDHA | c.*11G>T (n.*11G>T) c.179G>T c.922+1922G>T (n.922+1922G>T) | |
19 | g.41424620C>A | CA2739614056 | BCKDHA | c.*12C>A (n.*12C>A) c.180C>A c.922+1923C>A (n.922+1923C>A) | |
19 | g.41424620C>G | CA2739614055 | BCKDHA | c.*12C>G (n.*12C>G) c.180C>G c.922+1923C>G (n.922+1923C>G) | |
19 | g.41424620C>T | CA2585308451 | BCKDHA | c.*12C>T (n.*12C>T) c.180C>T c.922+1923C>T (n.922+1923C>T) | gnomAD v4 |
19 | g.41424622dup | CA2841673893 | BCKDHA | c.*14dup (n.*14dup) c.182dup c.922+1925dup (n.922+1925dup) | |
19 | g.41424621C>A | CA2585308452 | BCKDHA | c.*13C>A (n.*13C>A) c.181C>A c.922+1924C>A (n.922+1924C>A) | gnomAD v4 |
19 | g.41424621C>G | CA2739614057 | BCKDHA | c.*13C>G (n.*13C>G) c.181C>G c.922+1924C>G (n.922+1924C>G) | |
19 | g.41424621C>T | CA2739614058 | BCKDHA | c.*13C>T (n.*13C>T) c.181C>T c.922+1924C>T (n.922+1924C>T) | |
19 | g.41424621_41424622insAAACA | CA2814427887 | BCKDHA | c.*13_*14insAAACA (n.*13_*14insAAACA) c.181_182insAAACA c.922+1924_922+1925insAAACA (n.922+1924_922+1925insAAACA) | |
19 | g.41424622C>A | CA2585308453 | BCKDHA | c.*14C>A (n.*14C>A) c.182C>A c.922+1925C>A (n.922+1925C>A) | gnomAD v4 |
19 | g.41424622C>G | CA2739614059 | BCKDHA | c.*14C>G (n.*14C>G) c.182C>G c.922+1925C>G (n.922+1925C>G) | |
19 | g.41424622C>T | CA2739614060 | BCKDHA | c.*14C>T (n.*14C>T) c.182C>T c.922+1925C>T (n.922+1925C>T) | |
19 | g.41424623A= | CA2336460104 | BCKDHA | c.*15A= (n.*15A=) c.183A= c.922+1926A= (n.922+1926A=) | |
19 | g.41424623A>C | CA2336460103 | BCKDHA | c.*15A>C (n.*15A>C) c.183A>C c.922+1926A>C (n.922+1926A>C) | dbSNP gnomAD v4 |
19 | g.41424623A>G | CA2585308454 | BCKDHA | c.*15A>G (n.*15A>G) c.183A>G c.922+1926A>G (n.922+1926A>G) | gnomAD v4 |
19 | g.41424623A>T | CA2814427889 | BCKDHA | c.*15A>T (n.*15A>T) c.183A>T c.922+1926A>T (n.922+1926A>T) | |
19 | g.41424623_41424624delinsAC | CA2336460102 | BCKDHA | c.*15_*16delinsAC (n.*15_*16delinsAC) c.183_184delinsAC c.922+1926_922+1927delinsAC (n.922+1926_922+1927delinsAC) | |
19 | g.41424624C>A | CA2739614061 | BCKDHA | c.*16C>A (n.*16C>A) c.184C>A c.922+1927C>A (n.922+1927C>A) | |
19 | g.41424624C>G | CA2739614062 | BCKDHA | c.*16C>G (n.*16C>G) c.184C>G c.922+1927C>G (n.922+1927C>G) | |
19 | g.41424624C>T | CA2576793882 | BCKDHA | c.*16C>T (n.*16C>T) c.184C>T c.922+1927C>T (n.922+1927C>T) | gnomAD v4 |
19 | g.41424628dup | CA2839246425 | BCKDHA | c.*20dup (n.*20dup) c.188dup c.922+1931dup (n.922+1931dup) | |
19 | g.41424628del | CA9461435 | BCKDHA | c.*20del (n.*20del) c.188del c.922+1931del (n.922+1931del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424625C>A | CA2739614063 | BCKDHA | c.*17C>A (n.*17C>A) c.185C>A c.922+1928C>A (n.922+1928C>A) | |
19 | g.41424625C= | CA2336460105 | BCKDHA | c.*17C= (n.*17C=) c.185C= c.922+1928C= (n.922+1928C=) | |
19 | g.41424625C>G | CA2739614064 | BCKDHA | c.*17C>G (n.*17C>G) c.185C>G c.922+1928C>G (n.922+1928C>G) | |
19 | g.41424625C>T | CA9461436 | BCKDHA | c.*17C>T (n.*17C>T) c.185C>T c.922+1928C>T (n.922+1928C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424626C>A | CA2839583413 | BCKDHA | c.*18C>A (n.*18C>A) c.186C>A c.922+1929C>A (n.922+1929C>A) | |
19 | g.41424626C>T | CA2585308455 | BCKDHA | c.*18C>T (n.*18C>T) c.186C>T c.922+1929C>T (n.922+1929C>T) | gnomAD v4 |
19 | g.41424626_41424627insAACA | CA2814427892 | BCKDHA | c.*18_*19insAACA (n.*18_*19insAACA) c.186_187insAACA c.922+1929_922+1930insAACA (n.922+1929_922+1930insAACA) | |
19 | g.41424627C>A | CA2585308456 | BCKDHA | c.*19C>A (n.*19C>A) c.187C>A c.922+1930C>A (n.922+1930C>A) | gnomAD v4 |
19 | g.41424627C>G | CA2739614066 | BCKDHA | c.*19C>G (n.*19C>G) c.187C>G c.922+1930C>G (n.922+1930C>G) | |
19 | g.41424627C>T | CA2739614065 | BCKDHA | c.*19C>T (n.*19C>T) c.187C>T c.922+1930C>T (n.922+1930C>T) | |
19 | g.41424628C>A | CA9461437 | BCKDHA | c.*20C>A (n.*20C>A) c.188C>A c.922+1931C>A (n.922+1931C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424628C= | CA2336460106 | BCKDHA | c.*20C= (n.*20C=) c.188C= c.922+1931C= (n.922+1931C=) | |
19 | g.41424628C>G | CA2739614068 | BCKDHA | c.*20C>G (n.*20C>G) c.188C>G c.922+1931C>G (n.922+1931C>G) | |
19 | g.41424628C>T | CA2739614067 | BCKDHA | c.*20C>T (n.*20C>T) c.188C>T c.922+1931C>T (n.922+1931C>T) | |
19 | g.41424629A= | CA2336460107 | BCKDHA | c.*21A= (n.*21A=) c.189A= c.922+1932A= (n.922+1932A=) | |
19 | g.41424629A>C | CA9461438 | BCKDHA | c.*21A>C (n.*21A>C) c.189A>C c.922+1932A>C (n.922+1932A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424630C>A | CA2585308457 | BCKDHA | c.*22C>A (n.*22C>A) c.190C>A c.922+1933C>A (n.922+1933C>A) | gnomAD v4 |
19 | g.41424630C>G | CA2585308458 | BCKDHA | c.*22C>G (n.*22C>G) c.190C>G c.922+1933C>G (n.922+1933C>G) | gnomAD v4 |
19 | g.41424630C>T | CA2585308459 | BCKDHA | c.*22C>T (n.*22C>T) c.190C>T c.922+1933C>T (n.922+1933C>T) | gnomAD v4 |
19 | g.41424631C>A | CA2739614069 | BCKDHA | c.*23C>A (n.*23C>A) c.191C>A c.922+1934C>A (n.922+1934C>A) | |
19 | g.41424631C>G | CA2739614070 | BCKDHA | c.*23C>G (n.*23C>G) c.191C>G c.922+1934C>G (n.922+1934C>G) | |
19 | g.41424631C>T | CA2585308460 | BCKDHA | c.*23C>T (n.*23C>T) c.191C>T c.922+1934C>T (n.922+1934C>T) | gnomAD v4 |
19 | g.41424631_41424632insAG | CA2814427894 | BCKDHA | c.*23_*24insAG (n.*23_*24insAG) c.191_192insAG c.922+1934_922+1935insAG (n.922+1934_922+1935insAG) | |
19 | g.41424632C>A | CA2585308461 | BCKDHA | c.*24C>A (n.*24C>A) c.192C>A c.922+1935C>A (n.922+1935C>A) | gnomAD v4 |
19 | g.41424632C>G | CA2585308462 | BCKDHA | c.*24C>G (n.*24C>G) c.192C>G c.922+1935C>G (n.922+1935C>G) | gnomAD v4 |
19 | g.41424632_41424633insCTTAAATGATTCCACACACTTGGATAGCACCTG | CA2814427895 | BCKDHA | c.*24_*25insCTTAAATGATTCCACACACTTGGATAGCACCTG (n.*24_*25insCTTAAATGATTCCACACACTTGGATAGCACCTG) c.192_193insCTTAAATGATTCCACACACTTGGATAGCACCTG c.922+1935_922+1936insCTTAAATGATTCCACACACTTGGATAGCACCTG (n.922+1935_922+1936insCTTAAATGATTCCACACACTTGGATAGCACCTG) | |
19 | g.41424633A>C | CA995977549 | BCKDHA | c.*25A>C (n.*25A>C) c.193A>C c.922+1936A>C (n.922+1936A>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41424633A>G | CA2735930097 | BCKDHA | c.*25A>G (n.*25A>G) c.193A>G c.922+1936A>G (n.922+1936A>G) | dbSNP |
19 | g.41424633A>T | CA2739614071 | BCKDHA | c.*25A>T (n.*25A>T) c.193A>T c.922+1936A>T (n.922+1936A>T) | |
19 | g.41424633_41424636delinsATCC | CA2336460108 | BCKDHA | c.*25_*28delinsATCC (n.*25_*28delinsATCC) c.193_196delinsATCC c.922+1936_922+1939delinsATCC (n.922+1936_922+1939delinsATCC) | |
19 | g.41424634T>A | CA995977551 | BCKDHA | c.*26T>A (n.*26T>A) c.194T>A c.922+1937T>A (n.922+1937T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41424634T>C | CA2739614072 | BCKDHA | c.*26T>C (n.*26T>C) c.194T>C c.922+1937T>C (n.922+1937T>C) | |
19 | g.41424634T>G | CA2739614073 | BCKDHA | c.*26T>G (n.*26T>G) c.194T>G c.922+1937T>G (n.922+1937T>G) | |
19 | g.41424634T= | CA2336460109 | BCKDHA | c.*26T= (n.*26T=) c.194T= c.922+1937T= (n.922+1937T=) | |
19 | g.41424636_41424638del | CA633470497 | BCKDHA | c.*28_*30del (n.*28_*30del) c.196_198del c.922+1939_922+1941del (n.922+1939_922+1941del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41424635C>A | CA2585308463 | BCKDHA | c.*27C>A (n.*27C>A) c.195C>A c.922+1938C>A (n.922+1938C>A) | gnomAD v4 |
19 | g.41424635C>G | CA2739614074 | BCKDHA | c.*27C>G (n.*27C>G) c.195C>G c.922+1938C>G (n.922+1938C>G) | |
19 | g.41424635C>T | CA2841673894 | BCKDHA | c.*27C>T (n.*27C>T) c.195C>T c.922+1938C>T (n.922+1938C>T) | |
19 | g.41424636C>A | CA2739614075 | BCKDHA | c.*28C>A (n.*28C>A) c.196C>A c.922+1939C>A (n.922+1939C>A) | |
19 | g.41424636C= | CA2336460110 | BCKDHA | c.*28C= (n.*28C=) c.196C= c.922+1939C= (n.922+1939C=) | |
19 | g.41424636C>G | CA2739614076 | BCKDHA | c.*28C>G (n.*28C>G) c.196C>G c.922+1939C>G (n.922+1939C>G) | |
19 | g.41424636C>T | CA9461439 | BCKDHA | c.*28C>T (n.*28C>T) c.196C>T c.922+1939C>T (n.922+1939C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41424637T>A | CA995977553 | BCKDHA | c.*29T>A (n.*29T>A) c.197T>A c.922+1940T>A (n.922+1940T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41424637T>C | CA2739614077 | BCKDHA | c.*29T>C (n.*29T>C) c.197T>C c.922+1940T>C (n.922+1940T>C) | |
19 | g.41424637T>G | CA2585308464 | BCKDHA | c.*29T>G (n.*29T>G) c.197T>G c.922+1940T>G (n.922+1940T>G) | gnomAD v4 |
19 | g.41424637T= | CA2336460111 | BCKDHA | c.*29T= (n.*29T=) c.197T= c.922+1940T= (n.922+1940T=) |