Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41424552_41424563delCA2695228773BCKDHAc.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)
19g.41424561C>ACA406015595BCKDHAc.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)
19g.41424561C>GCA406015597BCKDHAc.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)
19g.41424561C>TCA507560721BCKDHAc.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
19g.41424562T>ACA406015600BCKDHAc.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)
19g.41424562T>CCA406015601BCKDHAc.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)
19g.41424562T>GCA406015602BCKDHAc.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)
19g.41424563G>ACA507560722BCKDHAc.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=)
19g.41424563G>CCA507560723BCKDHAc.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=)
19g.41424563G>TCA507560724BCKDHAc.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=)
19g.41424564C>ACA406015605BCKDHAc.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)
19g.41424564C>GCA406015603BCKDHAc.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)
19g.41424564C>TCA406015604BCKDHAc.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)
19g.41424565A>CCA406015607BCKDHAc.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)
19g.41424565A>GCA406015608BCKDHAc.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)
19g.41424565A>TCA406015609BCKDHAc.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)
19g.41424566G>ACA507560726BCKDHAc.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=)
19g.41424566G>CCA406015611BCKDHAc.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
19g.41424566G>TCA406015613BCKDHAc.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)
19g.41424567A>CCA406015617BCKDHAc.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)
19g.41424567A>GCA406015615BCKDHAc.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)
19g.41424567A>TCA406015616BCKDHAc.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)
19g.41424568C>ACA406015618BCKDHAc.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)
19g.41424568C>GCA406015621BCKDHAc.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)
19g.41424568C>TCA406015623BCKDHAc.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
19g.41424569C>ACA507560728BCKDHAc.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=)
19g.41424569C>GCA507560729BCKDHAc.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=)
19g.41424569C>TCA507560730BCKDHAc.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=)
19g.41424570T>ACA406015624BCKDHAc.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)
19g.41424570T>CCA406015625BCKDHAc.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)
19g.41424570T>GCA406015626BCKDHAc.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)
19g.41424571A>CCA406015629BCKDHAc.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)
19g.41424571A>GCA406015630BCKDHAc.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)
19g.41424571A>TCA406015631BCKDHAc.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)
19g.41424572C>ACA221184BCKDHAc.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
19g.41424572C=CA2336460075BCKDHAc.1302C= (p.Tyr434=)
c.1311C= (p.Tyr437=)
c.1404C= (p.Tyr468=)
c.132C=
c.922+1875C= (n.922+1875C=)
c.1299C= (p.Tyr433=)
19g.41424572C>GCA406015634BCKDHAc.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)
19g.41424572C>TCA9461423BCKDHAc.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
19g.41424573G>ACA308528132BCKDHAc.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
19g.41424573G>CCA9461424BCKDHAc.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
19g.41424573G=CA2336460076BCKDHAc.1303G= (p.Gly435=)
c.1312G= (p.Gly438=)
c.1405G= (p.Gly469=)
c.133G=
c.922+1876G= (n.922+1876G=)
c.1300G= (p.Gly434=)
19g.41424573G>TCA406015638BCKDHAc.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)
19g.41424574G>ACA406015640BCKDHAc.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)
19g.41424574G>CCA406015643BCKDHAc.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)
19g.41424574G>TCA406015644BCKDHAc.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)
19g.41424575G>ACA507560732BCKDHAc.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=)
19g.41424575G>CCA507560733BCKDHAc.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=)
19g.41424575G>TCA507560734BCKDHAc.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=)
19g.41424576G>ACA406015645BCKDHAc.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
19g.41424576G>CCA406015646BCKDHAc.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)
19g.41424576G=CA2336460077BCKDHAc.1306G= (p.Glu436=)
c.1315G= (p.Glu439=)
c.1408G= (p.Glu470=)
c.136G=
c.922+1879G= (n.922+1879G=)
c.1303G= (p.Glu435=)
19g.41424576G>TCA406015648BCKDHAc.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
19g.41424577A>CCA406015650BCKDHAc.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)
19g.41424577A>GCA406015653BCKDHAc.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)
19g.41424577A>TCA406015656BCKDHAc.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)
19g.41424578G>ACA507560735BCKDHAc.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
19g.41424578G>CCA406015659BCKDHAc.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)
19g.41424578G=CA2336460078BCKDHAc.1308G= (p.Glu436=)
c.1317G= (p.Glu439=)
c.1410G= (p.Glu470=)
c.138G=
c.922+1881G= (n.922+1881G=)
c.1305G= (p.Glu435=)
19g.41424578G>TCA9461425BCKDHAc.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
19g.41424578_41424580delinsGCACA2336460080BCKDHAc.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=)
19g.41424578_41424585delinsGCACTACCCA2336460079BCKDHAc.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=)
19g.41424579C>ACA406015673BCKDHAc.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)
19g.41424579C>GCA406015671BCKDHAc.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)
19g.41424579C>TCA406015666BCKDHAc.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)
19g.41424580_41424581delCA221186BCKDHAc.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
19g.41424583_41424589delCA1139666462BCKDHAc.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
19g.41424580A=CA2336460081BCKDHAc.1310A= (p.His437=)
c.1319A= (p.His440=)
c.1412A= (p.His471=)
c.140A=
c.922+1883A= (n.922+1883A=)
c.1307A= (p.His436=)
19g.41424580A>CCA406015676BCKDHAc.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)
19g.41424580A>GCA9461426BCKDHAc.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
19g.41424580A>TCA406015677BCKDHAc.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)
19g.41424581C>ACA406015679BCKDHAc.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)
19g.41424581C=CA2336460082BCKDHAc.1311C= (p.His437=)
c.1320C= (p.His440=)
c.1413C= (p.His471=)
c.141C=
c.922+1884C= (n.922+1884C=)
c.1308C= (p.His436=)
19g.41424581C>GCA406015680BCKDHAc.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
19g.41424581C>TCA9461427BCKDHAc.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
19g.41424582T>ACA115507BCKDHAc.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
19g.41424582T>CCA406015686BCKDHAc.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
19g.41424582T>GCA406015689BCKDHAc.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)
19g.41424582T=CA2336460083BCKDHAc.1312T= (p.Tyr438=)
c.1321T= (p.Tyr441=)
c.1414T= (p.Tyr472=)
c.142T=
c.922+1885T= (n.922+1885T=)
c.1309T= (p.Tyr437=)
19g.41424583A>CCA406015692BCKDHAc.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)
19g.41424583A>GCA406015694BCKDHAc.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
19g.41424583A>TCA406015697BCKDHAc.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)
19g.41424584C>ACA221187BCKDHAc.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
19g.41424584C=CA2336460084BCKDHAc.1314C= (p.Tyr438=)
c.1323C= (p.Tyr441=)
c.1416C= (p.Tyr472=)
c.144C=
c.922+1887C= (n.922+1887C=)
c.1311C= (p.Tyr437=)
19g.41424584C>GCA406015701BCKDHAc.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)
19g.41424584C>TCA507560737BCKDHAc.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
19g.41424585C>ACA406015711BCKDHAc.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)
19g.41424585C=CA2336460085BCKDHAc.1315C= (p.Pro439=)
c.1324C= (p.Pro442=)
c.1417C= (p.Pro473=)
c.145C=
c.922+1888C= (n.922+1888C=)
c.1312C= (p.Pro438=)
19g.41424585C>GCA9461428BCKDHAc.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
19g.41424585C>TCA406015713BCKDHAc.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)
19g.41424586C>ACA406015719BCKDHAc.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)
19g.41424586C=CA2336460086BCKDHAc.1316C= (p.Pro439=)
c.1325C= (p.Pro442=)
c.1418C= (p.Pro473=)
c.146C=
c.922+1889C= (n.922+1889C=)
c.1313C= (p.Pro438=)
19g.41424586C>GCA406015722BCKDHAc.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)
19g.41424586C>TCA308528208BCKDHAc.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
19g.41424587A=CA2336460087BCKDHAc.1317A= (p.Pro439=)
c.1326A= (p.Pro442=)
c.1419A= (p.Pro473=)
c.147A=
c.922+1890A= (n.922+1890A=)
c.1314A= (p.Pro438=)
19g.41424587A>CCA507560738BCKDHAc.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
19g.41424587A>GCA9461429BCKDHAc.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
19g.41424587A>TCA507560739BCKDHAc.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=)
19g.41424588C>ACA406015733BCKDHAc.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)
19g.41424588C=CA2336460088BCKDHAc.1318C= (p.Leu440=)
c.1327C= (p.Leu443=)
c.1420C= (p.Leu474=)
c.148C=
c.922+1891C= (n.922+1891C=)
c.1315C= (p.Leu439=)
19g.41424588C>GCA406015736BCKDHAc.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
19g.41424588C>TCA507560740BCKDHAc.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
19g.41424589T>ACA406015740BCKDHAc.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)
19g.41424589T>CCA406015742BCKDHAc.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
19g.41424589T>GCA406015744BCKDHAc.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)
19g.41424589T=CA2336460089BCKDHAc.1319T= (p.Leu440=)
c.1328T= (p.Leu443=)
c.1421T= (p.Leu474=)
c.149T=
c.922+1892T= (n.922+1892T=)
c.1316T= (p.Leu439=)
19g.41424590G>ACA9461430BCKDHAc.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
19g.41424590G>CCA507560742BCKDHAc.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=)
19g.41424590G=CA2336460090BCKDHAc.1320G= (p.Leu440=)
c.1329G= (p.Leu443=)
c.1422G= (p.Leu474=)
c.150G=
c.922+1893G= (n.922+1893G=)
c.1317G= (p.Leu439=)
19g.41424590G>TCA507560741BCKDHAc.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=)
19g.41424591G>ACA406015748BCKDHAc.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
19g.41424591G>CCA406015751BCKDHAc.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)
19g.41424591G>TCA406015755BCKDHAc.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)
19g.41424592A>CCA406015759BCKDHAc.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)
19g.41424592A>GCA406015763BCKDHAc.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)
19g.41424592A>TCA406015762BCKDHAc.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)
19g.41424593T>ACA406015769BCKDHAc.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)
19g.41424593T>CCA507560743BCKDHAc.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=)
19g.41424593T>GCA406015771BCKDHAc.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)
19g.41424594C>ACA406015773BCKDHAc.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
19g.41424594C=CA2336460091BCKDHAc.1324C= (p.His442=)
c.1333C= (p.His445=)
c.1426C= (p.His476=)
c.154C=
c.922+1897C= (n.922+1897C=)
c.1321C= (p.His441=)
19g.41424594C>GCA9461431BCKDHAc.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
19g.41424594C>TCA406015777BCKDHAc.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
19g.41424595A>CCA406015789BCKDHAc.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)
19g.41424595A>GCA406015792BCKDHAc.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)
19g.41424595A>TCA406015795BCKDHAc.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)
19g.41424596C>ACA406015799BCKDHAc.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)
19g.41424596C>GCA406015802BCKDHAc.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
19g.41424596C>TCA507560744BCKDHAc.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=)
19g.41424597T>ACA406015807BCKDHAc.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)
19g.41424597T>CCA406015810BCKDHAc.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
19g.41424597T>GCA406015805BCKDHAc.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
19g.41424597T=CA2336460092BCKDHAc.1327T= (p.Phe443=)
c.1336T= (p.Phe446=)
c.1429T= (p.Phe477=)
c.157T=
c.922+1900T= (n.922+1900T=)
c.1324T= (p.Phe442=)
19g.41424598T>ACA406015813BCKDHAc.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)
19g.41424598T>CCA406015817BCKDHAc.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
19g.41424598T>GCA406015821BCKDHAc.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)
19g.41424598T=CA2336460093BCKDHAc.1328T= (p.Phe443=)
c.1337T= (p.Phe446=)
c.1430T= (p.Phe477=)
c.158T=
c.922+1901T= (n.922+1901T=)
c.1325T= (p.Phe442=)
19g.41424599C>ACA406015825BCKDHAc.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)
19g.41424599C=CA2336460094BCKDHAc.1329C= (p.Phe443=)
c.1338C= (p.Phe446=)
c.1431C= (p.Phe477=)
c.159C=
c.922+1902C= (n.922+1902C=)
c.1326C= (p.Phe442=)
19g.41424599C>GCA406015827BCKDHAc.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
19g.41424599C>TCA9461432BCKDHAc.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
19g.41424600G>ACA9461433BCKDHAc.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
19g.41424600G>CCA406015833BCKDHAc.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
19g.41424600G=CA2336460095BCKDHAc.1330G= (p.Asp444=)
c.1339G= (p.Asp447=)
c.1432G= (p.Asp478=)
c.160G=
c.922+1903G= (n.922+1903G=)
c.1327G= (p.Asp443=)
19g.41424600G>TCA406015837BCKDHAc.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
19g.41424601A=CA2336460096BCKDHAc.1331A= (p.Asp444=)
c.1340A= (p.Asp447=)
c.1433A= (p.Asp478=)
c.161A=
c.922+1904A= (n.922+1904A=)
c.1328A= (p.Asp443=)
19g.41424601A>CCA406015840BCKDHAc.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)
19g.41424601A>GCA9461434BCKDHAc.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
19g.41424601A>TCA406015843BCKDHAc.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
19g.41424602T>ACA406015849BCKDHAc.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)
19g.41424602T>CCA507560746BCKDHAc.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
19g.41424602T>GCA406015851BCKDHAc.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
19g.41424603A>CCA406015856BCKDHAc.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)
19g.41424603A>GCA406015862BCKDHAc.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)
19g.41424603A>TCA406015859BCKDHAc.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)
19g.41424604A>CCA406015865BCKDHAc.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)
19g.41424604A>GCA406015867BCKDHAc.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
19g.41424604A>TCA406015872BCKDHAc.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)
19g.41424605G>ACA507560747BCKDHAc.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
19g.41424605G>CCA406015876BCKDHAc.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)
19g.41424605G>TCA406015878BCKDHAc.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)
19g.41424606T>ACA406015882BCKDHAc.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)
19g.41424606T>CCA406015885BCKDHAc.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)
19g.41424606T>GCA406015887BCKDHAc.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)
19g.41424607G>ACA507560748BCKDHAc.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
19g.41424607G>CCA406015889BCKDHAc.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)
19g.41424607G=CA2336460097BCKDHAc.1337G= (p.Ter446=)
c.1346G= (p.Ter449=)
c.1439G= (p.Ter480=)
c.167G=
c.922+1910G= (n.922+1910G=)
c.1334G= (p.Ter445=)
19g.41424607G>TCA406015892BCKDHAc.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)
19g.41424608A>CCA406015897BCKDHAc.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)
19g.41424608A>GCA406015900BCKDHAc.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)
19g.41424608A>TCA406015902BCKDHAc.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)
19g.41424609G>ACA2739614033BCKDHAc.*1G>A (n.*1G>A)
c.169G>A
c.922+1912G>A (n.922+1912G>A)
19g.41424609G>CCA2739614034BCKDHAc.*1G>C (n.*1G>C)
c.169G>C
c.922+1912G>C (n.922+1912G>C)
19g.41424609G>TCA2739614035BCKDHAc.*1G>T (n.*1G>T)
c.169G>T
c.922+1912G>T (n.922+1912G>T)
19g.41424610A>CCA2739614036BCKDHAc.*2A>C (n.*2A>C)
c.170A>C
c.922+1913A>C (n.922+1913A>C)
19g.41424610A>GCA2739614037BCKDHAc.*2A>G (n.*2A>G)
c.170A>G
c.922+1913A>G (n.922+1913A>G)
19g.41424610A>TCA2739614038BCKDHAc.*2A>T (n.*2A>T)
c.170A>T
c.922+1913A>T (n.922+1913A>T)
19g.41424611C>ACA2585308448BCKDHAc.*3C>A (n.*3C>A)
c.171C>A
c.922+1914C>A (n.922+1914C>A)
 gnomAD v4
19g.41424611C=CA2336460098BCKDHAc.*3C= (n.*3C=)
c.171C=
c.922+1914C= (n.922+1914C=)
19g.41424611C>GCA2739614039BCKDHAc.*3C>G (n.*3C>G)
c.171C>G
c.922+1914C>G (n.922+1914C>G)
19g.41424611C>TCA633470495BCKDHAc.*3C>T (n.*3C>T)
c.171C>T
c.922+1914C>T (n.922+1914C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41424612C>ACA2739614040BCKDHAc.*4C>A (n.*4C>A)
c.172C>A
c.922+1915C>A (n.922+1915C>A)
19g.41424612C>GCA2739614041BCKDHAc.*4C>G (n.*4C>G)
c.172C>G
c.922+1915C>G (n.922+1915C>G)
19g.41424613T>ACA2739614043BCKDHAc.*5T>A (n.*5T>A)
c.173T>A
c.922+1916T>A (n.922+1916T>A)
19g.41424613T>CCA2576793881BCKDHAc.*5T>C (n.*5T>C)
c.173T>C
c.922+1916T>C (n.922+1916T>C)
19g.41424613T>GCA2739614042BCKDHAc.*5T>G (n.*5T>G)
c.173T>G
c.922+1916T>G (n.922+1916T>G)
19g.41424614G>ACA633470496BCKDHAc.*6G>A (n.*6G>A)
c.174G>A
c.922+1917G>A (n.922+1917G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.41424614G>CCA2814427883BCKDHAc.*6G>C (n.*6G>C)
c.174G>C
c.922+1917G>C (n.922+1917G>C)
19g.41424614G=CA2336460099BCKDHAc.*6G= (n.*6G=)
c.174G=
c.922+1917G= (n.922+1917G=)
19g.41424615C>ACA2739614044BCKDHAc.*7C>A (n.*7C>A)
c.175C>A
c.922+1918C>A (n.922+1918C>A)
19g.41424615C>GCA2739614045BCKDHAc.*7C>G (n.*7C>G)
c.175C>G
c.922+1918C>G (n.922+1918C>G)
19g.41424615C>TCA2739614046BCKDHAc.*7C>T (n.*7C>T)
c.175C>T
c.922+1918C>T (n.922+1918C>T)
19g.41424616T>ACA2739614047BCKDHAc.*8T>A (n.*8T>A)
c.176T>A
c.922+1919T>A (n.922+1919T>A)
19g.41424616T>CCA2739614048BCKDHAc.*8T>C (n.*8T>C)
c.176T>C
c.922+1919T>C (n.922+1919T>C)
19g.41424616T>GCA2739614049BCKDHAc.*8T>G (n.*8T>G)
c.176T>G
c.922+1919T>G (n.922+1919T>G)
19g.41424617C>TCA2585308449BCKDHAc.*9C>T (n.*9C>T)
c.177C>T
c.922+1920C>T (n.922+1920C>T)
 gnomAD v4
19g.41424618A=CA2336460100BCKDHAc.*10A= (n.*10A=)
c.178A=
c.922+1921A= (n.922+1921A=)
19g.41424618A>CCA2739614050BCKDHAc.*10A>C (n.*10A>C)
c.178A>C
c.922+1921A>C (n.922+1921A>C)
19g.41424618A>GCA2585308450BCKDHAc.*10A>G (n.*10A>G)
c.178A>G
c.922+1921A>G (n.922+1921A>G)
 gnomAD v4
19g.41424618A>TCA2739614051BCKDHAc.*10A>T (n.*10A>T)
c.178A>T
c.922+1921A>T (n.922+1921A>T)
19g.41424618_41424619insAAGCA2336460101BCKDHAc.*10_*11insAAG (n.*10_*11insAAG)
c.178_179insAAG
c.922+1921_922+1922insAAG (n.922+1921_922+1922insAAG)
 dbSNP
19g.41424618_41424619insAAAACACCA2814427886BCKDHAc.*10_*11insAAAACAC (n.*10_*11insAAAACAC)
c.178_179insAAAACAC
c.922+1921_922+1922insAAAACAC (n.922+1921_922+1922insAAAACAC)
19g.41424619G>ACA2739614052BCKDHAc.*11G>A (n.*11G>A)
c.179G>A
c.922+1922G>A (n.922+1922G>A)
19g.41424619G>CCA2739614053BCKDHAc.*11G>C (n.*11G>C)
c.179G>C
c.922+1922G>C (n.922+1922G>C)
19g.41424619G>TCA2739614054BCKDHAc.*11G>T (n.*11G>T)
c.179G>T
c.922+1922G>T (n.922+1922G>T)
19g.41424620C>ACA2739614056BCKDHAc.*12C>A (n.*12C>A)
c.180C>A
c.922+1923C>A (n.922+1923C>A)
19g.41424620C>GCA2739614055BCKDHAc.*12C>G (n.*12C>G)
c.180C>G
c.922+1923C>G (n.922+1923C>G)
19g.41424620C>TCA2585308451BCKDHAc.*12C>T (n.*12C>T)
c.180C>T
c.922+1923C>T (n.922+1923C>T)
 gnomAD v4
19g.41424621C>ACA2585308452BCKDHAc.*13C>A (n.*13C>A)
c.181C>A
c.922+1924C>A (n.922+1924C>A)
 gnomAD v4
19g.41424621C>GCA2739614057BCKDHAc.*13C>G (n.*13C>G)
c.181C>G
c.922+1924C>G (n.922+1924C>G)
19g.41424621C>TCA2739614058BCKDHAc.*13C>T (n.*13C>T)
c.181C>T
c.922+1924C>T (n.922+1924C>T)
19g.41424621_41424622insAAACACA2814427887BCKDHAc.*13_*14insAAACA (n.*13_*14insAAACA)
c.181_182insAAACA
c.922+1924_922+1925insAAACA (n.922+1924_922+1925insAAACA)
19g.41424622C>ACA2585308453BCKDHAc.*14C>A (n.*14C>A)
c.182C>A
c.922+1925C>A (n.922+1925C>A)
 gnomAD v4
19g.41424622C>GCA2739614059BCKDHAc.*14C>G (n.*14C>G)
c.182C>G
c.922+1925C>G (n.922+1925C>G)
19g.41424622C>TCA2739614060BCKDHAc.*14C>T (n.*14C>T)
c.182C>T
c.922+1925C>T (n.922+1925C>T)
19g.41424623A=CA2336460104BCKDHAc.*15A= (n.*15A=)
c.183A=
c.922+1926A= (n.922+1926A=)
19g.41424623A>CCA2336460103BCKDHAc.*15A>C (n.*15A>C)
c.183A>C
c.922+1926A>C (n.922+1926A>C)
 dbSNP gnomAD v4
19g.41424623A>GCA2585308454BCKDHAc.*15A>G (n.*15A>G)
c.183A>G
c.922+1926A>G (n.922+1926A>G)
 gnomAD v4
19g.41424623A>TCA2814427889BCKDHAc.*15A>T (n.*15A>T)
c.183A>T
c.922+1926A>T (n.922+1926A>T)
19g.41424623_41424624delinsACCA2336460102BCKDHAc.*15_*16delinsAC (n.*15_*16delinsAC)
c.183_184delinsAC
c.922+1926_922+1927delinsAC (n.922+1926_922+1927delinsAC)
19g.41424624C>ACA2739614061BCKDHAc.*16C>A (n.*16C>A)
c.184C>A
c.922+1927C>A (n.922+1927C>A)
19g.41424624C>GCA2739614062BCKDHAc.*16C>G (n.*16C>G)
c.184C>G
c.922+1927C>G (n.922+1927C>G)
19g.41424624C>TCA2576793882BCKDHAc.*16C>T (n.*16C>T)
c.184C>T
c.922+1927C>T (n.922+1927C>T)
 gnomAD v4
19g.41424628delCA9461435BCKDHAc.*20del (n.*20del)
c.188del
c.922+1931del (n.922+1931del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424625C>ACA2739614063BCKDHAc.*17C>A (n.*17C>A)
c.185C>A
c.922+1928C>A (n.922+1928C>A)
19g.41424625C=CA2336460105BCKDHAc.*17C= (n.*17C=)
c.185C=
c.922+1928C= (n.922+1928C=)
19g.41424625C>GCA2739614064BCKDHAc.*17C>G (n.*17C>G)
c.185C>G
c.922+1928C>G (n.922+1928C>G)
19g.41424625C>TCA9461436BCKDHAc.*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
19g.41424626C>TCA2585308455BCKDHAc.*18C>T (n.*18C>T)
c.186C>T
c.922+1929C>T (n.922+1929C>T)
 gnomAD v4
19g.41424626_41424627insAACACA2814427892BCKDHAc.*18_*19insAACA (n.*18_*19insAACA)
c.186_187insAACA
c.922+1929_922+1930insAACA (n.922+1929_922+1930insAACA)
19g.41424627C>ACA2585308456BCKDHAc.*19C>A (n.*19C>A)
c.187C>A
c.922+1930C>A (n.922+1930C>A)
 gnomAD v4
19g.41424627C>GCA2739614066BCKDHAc.*19C>G (n.*19C>G)
c.187C>G
c.922+1930C>G (n.922+1930C>G)
19g.41424627C>TCA2739614065BCKDHAc.*19C>T (n.*19C>T)
c.187C>T
c.922+1930C>T (n.922+1930C>T)
19g.41424628C>ACA9461437BCKDHAc.*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
19g.41424628C=CA2336460106BCKDHAc.*20C= (n.*20C=)
c.188C=
c.922+1931C= (n.922+1931C=)
19g.41424628C>GCA2739614068BCKDHAc.*20C>G (n.*20C>G)
c.188C>G
c.922+1931C>G (n.922+1931C>G)
19g.41424628C>TCA2739614067BCKDHAc.*20C>T (n.*20C>T)
c.188C>T
c.922+1931C>T (n.922+1931C>T)
19g.41424629A=CA2336460107BCKDHAc.*21A= (n.*21A=)
c.189A=
c.922+1932A= (n.922+1932A=)
19g.41424629A>CCA9461438BCKDHAc.*21A>C (n.*21A>C)
c.189A>C
c.922+1932A>C (n.922+1932A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424630C>ACA2585308457BCKDHAc.*22C>A (n.*22C>A)
c.190C>A
c.922+1933C>A (n.922+1933C>A)
 gnomAD v4
19g.41424630C>GCA2585308458BCKDHAc.*22C>G (n.*22C>G)
c.190C>G
c.922+1933C>G (n.922+1933C>G)
 gnomAD v4
19g.41424630C>TCA2585308459BCKDHAc.*22C>T (n.*22C>T)
c.190C>T
c.922+1933C>T (n.922+1933C>T)
 gnomAD v4
19g.41424631C>ACA2739614069BCKDHAc.*23C>A (n.*23C>A)
c.191C>A
c.922+1934C>A (n.922+1934C>A)
19g.41424631C>GCA2739614070BCKDHAc.*23C>G (n.*23C>G)
c.191C>G
c.922+1934C>G (n.922+1934C>G)
19g.41424631C>TCA2585308460BCKDHAc.*23C>T (n.*23C>T)
c.191C>T
c.922+1934C>T (n.922+1934C>T)
 gnomAD v4
19g.41424631_41424632insAGCA2814427894BCKDHAc.*23_*24insAG (n.*23_*24insAG)
c.191_192insAG
c.922+1934_922+1935insAG (n.922+1934_922+1935insAG)
19g.41424632C>ACA2585308461BCKDHAc.*24C>A (n.*24C>A)
c.192C>A
c.922+1935C>A (n.922+1935C>A)
 gnomAD v4
19g.41424632C>GCA2585308462BCKDHAc.*24C>G (n.*24C>G)
c.192C>G
c.922+1935C>G (n.922+1935C>G)
 gnomAD v4
19g.41424632_41424633insCTTAAATGATTCCACACACTTGGATAGCACCTGCA2814427895BCKDHAc.*24_*25insCTTAAATGATTCCACACACTTGGATAGCACCTG (n.*24_*25insCTTAAATGATTCCACACACTTGGATAGCACCTG)
c.192_193insCTTAAATGATTCCACACACTTGGATAGCACCTG
c.922+1935_922+1936insCTTAAATGATTCCACACACTTGGATAGCACCTG (n.922+1935_922+1936insCTTAAATGATTCCACACACTTGGATAGCACCTG)
19g.41424633A>CCA995977549BCKDHAc.*25A>C (n.*25A>C)
c.193A>C
c.922+1936A>C (n.922+1936A>C)
 dbSNP gnomAD v3 gnomAD v4
19g.41424633A>GCA2735930097BCKDHAc.*25A>G (n.*25A>G)
c.193A>G
c.922+1936A>G (n.922+1936A>G)
 dbSNP
19g.41424633A>TCA2739614071BCKDHAc.*25A>T (n.*25A>T)
c.193A>T
c.922+1936A>T (n.922+1936A>T)
19g.41424633_41424636delinsATCCCA2336460108BCKDHAc.*25_*28delinsATCC (n.*25_*28delinsATCC)
c.193_196delinsATCC
c.922+1936_922+1939delinsATCC (n.922+1936_922+1939delinsATCC)
19g.41424634T>ACA995977551BCKDHAc.*26T>A (n.*26T>A)
c.194T>A
c.922+1937T>A (n.922+1937T>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41424634T>CCA2739614072BCKDHAc.*26T>C (n.*26T>C)
c.194T>C
c.922+1937T>C (n.922+1937T>C)
19g.41424634T>GCA2739614073BCKDHAc.*26T>G (n.*26T>G)
c.194T>G
c.922+1937T>G (n.922+1937T>G)
19g.41424634T=CA2336460109BCKDHAc.*26T= (n.*26T=)
c.194T=
c.922+1937T= (n.922+1937T=)
19g.41424636_41424638delCA633470497BCKDHAc.*28_*30del (n.*28_*30del)
c.196_198del
c.922+1939_922+1941del (n.922+1939_922+1941del)
 dbSNP gnomAD v2 gnomAD v4
19g.41424635C>ACA2585308463BCKDHAc.*27C>A (n.*27C>A)
c.195C>A
c.922+1938C>A (n.922+1938C>A)
 gnomAD v4
19g.41424635C>GCA2739614074BCKDHAc.*27C>G (n.*27C>G)
c.195C>G
c.922+1938C>G (n.922+1938C>G)
19g.41424636C>ACA2739614075BCKDHAc.*28C>A (n.*28C>A)
c.196C>A
c.922+1939C>A (n.922+1939C>A)
19g.41424636C=CA2336460110BCKDHAc.*28C= (n.*28C=)
c.196C=
c.922+1939C= (n.922+1939C=)
19g.41424636C>GCA2739614076BCKDHAc.*28C>G (n.*28C>G)
c.196C>G
c.922+1939C>G (n.922+1939C>G)
19g.41424636C>TCA9461439BCKDHAc.*28C>T (n.*28C>T)
c.196C>T
c.922+1939C>T (n.922+1939C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424637T>ACA995977553BCKDHAc.*29T>A (n.*29T>A)
c.197T>A
c.922+1940T>A (n.922+1940T>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41424637T>CCA2739614077BCKDHAc.*29T>C (n.*29T>C)
c.197T>C
c.922+1940T>C (n.922+1940T>C)
19g.41424637T>GCA2585308464BCKDHAc.*29T>G (n.*29T>G)
c.197T>G
c.922+1940T>G (n.922+1940T>G)
 gnomAD v4
19g.41424637T=CA2336460111BCKDHAc.*29T= (n.*29T=)
c.197T=
c.922+1940T= (n.922+1940T=)
19g.41424639A>CCA2739614078BCKDHAc.*31A>C (n.*31A>C)
c.199A>C
c.922+1942A>C (n.922+1942A>C)
19g.41424639A>GCA2585308465BCKDHAc.*31A>G (n.*31A>G)
c.199A>G
c.922+1942A>G (n.922+1942A>G)
 gnomAD v4
19g.41424639A>TCA2739614079BCKDHAc.*31A>T (n.*31A>T)
c.199A>T
c.922+1942A>T (n.922+1942A>T)
19g.41424640G>ACA2739614080BCKDHAc.*32G>A (n.*32G>A)
c.200G>A
c.922+1943G>A (n.922+1943G>A)
19g.41424640G>CCA2585308466BCKDHAc.*32G>C (n.*32G>C)
c.200G>C
c.922+1943G>C (n.922+1943G>C)
 gnomAD v4
19g.41424640G>TCA2739614081BCKDHAc.*32G>T (n.*32G>T)
c.200G>T
c.922+1943G>T (n.922+1943G>T)
19g.41424641C>ACA2739614082BCKDHAc.*33C>A (n.*33C>A)
c.201C>A
c.922+1944C>A (n.922+1944C>A)
19g.41424641C=CA2336460112BCKDHAc.*33C= (n.*33C=)
c.201C=
c.922+1944C= (n.922+1944C=)
19g.41424641C>GCA221175BCKDHAc.*33C>G (n.*33C>G)
c.201C>G
c.922+1944C>G (n.922+1944C>G)
 ClinVar dbSNP
19g.41424642T>ACA995977555BCKDHAc.*34T>A (n.*34T>A)
c.202T>A
c.922+1945T>A (n.922+1945T>A)
 dbSNP gnomAD v3 gnomAD v4
19g.41424642T>CCA2739614083BCKDHAc.*34T>C (n.*34T>C)
c.202T>C
c.922+1945T>C (n.922+1945T>C)
19g.41424642T>GCA2739614084BCKDHAc.*34T>G (n.*34T>G)
c.202T>G
c.922+1945T>G (n.922+1945T>G)
19g.41424643A=CA2336460113BCKDHAc.*35A= (n.*35A=)
c.203A=
c.922+1946A= (n.922+1946A=)
19g.41424643A>CCA2336460114BCKDHAc.*35A>C (n.*35A>C)
c.203A>C
c.922+1946A>C (n.922+1946A>C)
 dbSNP
19g.41424643A>GCA2739614085BCKDHAc.*35A>G (n.*35A>G)
c.203A>G
c.922+1946A>G (n.922+1946A>G)
19g.41424643A>TCA2739614086BCKDHAc.*35A>T (n.*35A>T)
c.203A>T
c.922+1946A>T (n.922+1946A>T)
19g.41424643_41424644delinsACCA2336460115BCKDHAc.*35_*36delinsAC (n.*35_*36delinsAC)
c.203_204delinsAC
c.922+1946_922+1947delinsAC (n.922+1946_922+1947delinsAC)
19g.41424644C>ACA2585308467BCKDHAc.*36C>A (n.*36C>A)
c.204C>A
c.922+1947C>A (n.922+1947C>A)
 gnomAD v4
19g.41424644C=CA2336460116BCKDHAc.*36C= (n.*36C=)
c.204C=
c.922+1947C= (n.922+1947C=)
19g.41424644C>TCA882314490BCKDHAc.*36C>T (n.*36C>T)
c.204C>T
c.922+1947C>T (n.922+1947C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.41424647delCA995977558BCKDHAc.*39del (n.*39del)
c.207del
c.922+1950del (n.922+1950del)
 dbSNP gnomAD v3 gnomAD v4
19g.41424645C>ACA2739614088BCKDHAc.*37C>A (n.*37C>A)
c.205C>A
c.922+1948C>A (n.922+1948C>A)
19g.41424645C=CA2336460117BCKDHAc.*37C= (n.*37C=)
c.205C=
c.922+1948C= (n.922+1948C=)
19g.41424645C>GCA2739614087BCKDHAc.*37C>G (n.*37C>G)
c.205C>G
c.922+1948C>G (n.922+1948C>G)
19g.41424645C>TCA308528297BCKDHAc.*37C>T (n.*37C>T)
c.205C>T
c.922+1948C>T (n.922+1948C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.41424645_41424646insTCTCGGGGTAGCA2585308468BCKDHAc.*37_*38insTCTCGGGGTAG (n.*37_*38insTCTCGGGGTAG)
c.205_206insTCTCGGGGTAG
c.922+1948_922+1949insTCTCGGGGTAG (n.922+1948_922+1949insTCTCGGGGTAG)
 gnomAD v4
19g.41424646C>ACA2739614089BCKDHAc.*38C>A (n.*38C>A)
c.206C>A
c.922+1949C>A (n.922+1949C>A)
19g.41424646C=CA2336460119BCKDHAc.*38C= (n.*38C=)
c.206C=
c.922+1949C= (n.922+1949C=)
19g.41424646C>GCA2336460120BCKDHAc.*38C>G (n.*38C>G)
c.206C>G
c.922+1949C>G (n.922+1949C>G)
 dbSNP
19g.41424646C>TCA2336460118BCKDHAc.*38C>T (n.*38C>T)
c.206C>T
c.922+1949C>T (n.922+1949C>T)
 dbSNP gnomAD v4
19g.41424647C>ACA2576793883BCKDHAc.*39C>A (n.*39C>A)
c.207C>A
c.922+1950C>A (n.922+1950C>A)
 gnomAD v4
19g.41424647C=CA2336460121BCKDHAc.*39C= (n.*39C=)
c.207C=
c.922+1950C= (n.922+1950C=)
19g.41424647C>TCA9461440BCKDHAc.*39C>T (n.*39C>T)
c.207C>T
c.922+1950C>T (n.922+1950C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424648G>ACA9461441BCKDHAc.*40G>A (n.*40G>A)
c.208G>A
c.922+1951G>A (n.922+1951G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424648G>CCA9461442BCKDHAc.*40G>C (n.*40G>C)
c.208G>C
c.922+1951G>C (n.922+1951G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424648G=CA2336460122BCKDHAc.*40G= (n.*40G=)
c.208G=
c.922+1951G= (n.922+1951G=)
19g.41424648G>TCA2336460123BCKDHAc.*40G>T (n.*40G>T)
c.208G>T
c.922+1951G>T (n.922+1951G>T)
 dbSNP
19g.41424649A=CA2336460124BCKDHAc.*41A= (n.*41A=)
c.209A=
c.922+1952A= (n.922+1952A=)
19g.41424649A>CCA2739614090BCKDHAc.*41A>C (n.*41A>C)
c.209A>C
c.922+1952A>C (n.922+1952A>C)
19g.41424649A>GCA633470498BCKDHAc.*41A>G (n.*41A>G)
c.209A>G
c.922+1952A>G (n.922+1952A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424649A>TCA2739614091BCKDHAc.*41A>T (n.*41A>T)
c.209A>T
c.922+1952A>T (n.922+1952A>T)
19g.41424650G>CCA2585308469BCKDHAc.*42G>C (n.*42G>C)
c.210G>C
c.922+1953G>C (n.922+1953G>C)
 gnomAD v4
19g.41424650G>TCA2739614092BCKDHAc.*42G>T (n.*42G>T)
c.210G>T
c.922+1953G>T (n.922+1953G>T)
19g.41424651A=CA2336460125BCKDHAc.*43A= (n.*43A=)
c.211A=
c.922+1954A= (n.922+1954A=)
19g.41424651A>GCA633470499BCKDHAc.*43A>G (n.*43A>G)
c.211A>G
c.922+1954A>G (n.922+1954A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424651A>TCA2739614093BCKDHAc.*43A>T (n.*43A>T)
c.211A>T
c.922+1954A>T (n.922+1954A>T)
19g.41424652G>ACA2739614094BCKDHAc.*44G>A (n.*44G>A)
c.212G>A
c.922+1955G>A (n.922+1955G>A)
19g.41424652G>CCA633470500BCKDHAc.*44G>C (n.*44G>C)
c.212G>C
c.922+1955G>C (n.922+1955G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.41424652G=CA2336460126BCKDHAc.*44G= (n.*44G=)
c.212G=
c.922+1955G= (n.922+1955G=)
19g.41424652G>TCA2739614095BCKDHAc.*44G>T (n.*44G>T)
c.212G>T
c.922+1955G>T (n.922+1955G>T)
19g.41424653G>CCA2739614096BCKDHAc.*45G>C (n.*45G>C)
c.213G>C
c.922+1956G>C (n.922+1956G>C)
19g.41424653G>TCA2585308470BCKDHAc.*45G>T (n.*45G>T)
c.213G>T
c.922+1956G>T (n.922+1956G>T)
 gnomAD v4
19g.41424654T>GCA2585308471BCKDHAc.*46T>G (n.*46T>G)
c.214T>G
c.922+1957T>G (n.922+1957T>G)
 gnomAD v4
19g.41424656G>ACA2585308472BCKDHAc.*48G>A (n.*48G>A)
c.216G>A
c.922+1959G>A (n.922+1959G>A)
 gnomAD v4
19g.41424656G>TCA2585308473BCKDHAc.*48G>T (n.*48G>T)
c.216G>T
c.922+1959G>T (n.922+1959G>T)
 gnomAD v4
19g.41424657C>ACA2739614097BCKDHAc.*49C>A (n.*49C>A)
c.217C>A
c.922+1960C>A (n.922+1960C>A)
19g.41424657C=CA2336460127BCKDHAc.*49C= (n.*49C=)
c.217C=
c.922+1960C= (n.922+1960C=)
19g.41424657C>GCA2739614098BCKDHAc.*49C>G (n.*49C>G)
c.217C>G
c.922+1960C>G (n.922+1960C>G)
19g.41424657C>TCA633470501BCKDHAc.*49C>T (n.*49C>T)
c.217C>T
c.922+1960C>T (n.922+1960C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41424658C>ACA2576793884BCKDHAc.*50C>A (n.*50C>A)
c.218C>A
c.922+1961C>A (n.922+1961C>A)
19g.41424658C>GCA2739614099BCKDHAc.*50C>G (n.*50C>G)
c.218C>G
c.922+1961C>G (n.922+1961C>G)
19g.41424658C>TCA2585308474BCKDHAc.*50C>T (n.*50C>T)
c.218C>T
c.922+1961C>T (n.922+1961C>T)
 gnomAD v4
19g.41424660C>ACA2739614100BCKDHAc.*52C>A (n.*52C>A)
c.220C>A
c.922+1963C>A (n.922+1963C>A)
19g.41424660C>GCA2739614101BCKDHAc.*52C>G (n.*52C>G)
c.220C>G
c.922+1963C>G (n.922+1963C>G)
19g.41424660C>TCA2576793885BCKDHAc.*52C>T (n.*52C>T)
c.220C>T
c.922+1963C>T (n.922+1963C>T)
19g.41424661A=CA2336460128BCKDHAc.*53A= (n.*53A=)
c.221A=
c.922+1964A= (n.922+1964A=)
19g.41424661A>CCA995977567BCKDHAc.*53A>C (n.*53A>C)
c.221A>C
c.922+1964A>C (n.922+1964A>C)
 dbSNP gnomAD v3 gnomAD v4
19g.41424661A>GCA882314497BCKDHAc.*53A>G (n.*53A>G)
c.221A>G
c.922+1964A>G (n.922+1964A>G)
 dbSNP
19g.41424661A>TCA2739614102BCKDHAc.*53A>T (n.*53A>T)
c.221A>T
c.922+1964A>T (n.922+1964A>T)

Number of alleles fetched