Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41424492C>ACA406015359BCKDHAc.1222C>A (p.Leu408Ile)
c.1231C>A (p.Leu411Ile)
c.1324C>A (p.Leu442Ile)
c.62-10C>A
c.922+1795C>A (n.922+1795C>A)
c.1219C>A (p.Leu407Ile)
19g.41424492C=CA2336460042BCKDHAc.1222C= (p.Leu408=)
c.1231C= (p.Leu411=)
c.1324C= (p.Leu442=)
c.62-10C=
c.922+1795C= (n.922+1795C=)
c.1219C= (p.Leu407=)
19g.41424492C>GCA406015360BCKDHAc.1222C>G (p.Leu408Val)
c.1231C>G (p.Leu411Val)
c.1324C>G (p.Leu442Val)
c.62-10C>G
c.922+1795C>G (n.922+1795C>G)
c.1219C>G (p.Leu407Val)
 dbSNP gnomAD v3 gnomAD v4
19g.41424492C>TCA406015361BCKDHAc.1222C>T (p.Leu408Phe)
c.1231C>T (p.Leu411Phe)
c.1324C>T (p.Leu442Phe)
c.62-10C>T
c.922+1795C>T (n.922+1795C>T)
c.1219C>T (p.Leu407Phe)
 gnomAD v4
19g.41424493T>ACA406015363BCKDHAc.1223T>A (p.Leu408His)
c.1232T>A (p.Leu411His)
c.1325T>A (p.Leu442His)
c.62-9T>A
c.922+1796T>A (n.922+1796T>A)
c.1220T>A (p.Leu407His)
19g.41424493T>CCA406015364BCKDHAc.1223T>C (p.Leu408Pro)
c.1232T>C (p.Leu411Pro)
c.1325T>C (p.Leu442Pro)
c.62-9T>C
c.922+1796T>C (n.922+1796T>C)
c.1220T>C (p.Leu407Pro)
19g.41424493T>GCA406015362BCKDHAc.1223T>G (p.Leu408Arg)
c.1232T>G (p.Leu411Arg)
c.1325T>G (p.Leu442Arg)
c.62-9T>G
c.922+1796T>G (n.922+1796T>G)
c.1220T>G (p.Leu407Arg)
19g.41424494C>ACA507560677BCKDHAc.1224C>A (p.Leu408=)
c.1233C>A (p.Leu411=)
c.1326C>A (p.Leu442=)
c.62-8C>A
c.922+1797C>A (n.922+1797C>A)
c.1221C>A (p.Leu407=)
19g.41424494C=CA2336460043BCKDHAc.1224C= (p.Leu408=)
c.1233C= (p.Leu411=)
c.1326C= (p.Leu442=)
c.62-8C=
c.922+1797C= (n.922+1797C=)
c.1221C= (p.Leu407=)
19g.41424494C>GCA507560678BCKDHAc.1224C>G (p.Leu408=)
c.1233C>G (p.Leu411=)
c.1326C>G (p.Leu442=)
c.62-8C>G
c.922+1797C>G (n.922+1797C>G)
c.1221C>G (p.Leu407=)
 dbSNP
19g.41424494C>TCA9461408BCKDHAc.1224C>T (p.Leu408=)
c.1233C>T (p.Leu411=)
c.1326C>T (p.Leu442=)
c.62-8C>T
c.922+1797C>T (n.922+1797C>T)
c.1221C>T (p.Leu407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424495T>ACA406015365BCKDHAc.1225T>A (p.Phe409Ile)
c.1234T>A (p.Phe412Ile)
c.1327T>A (p.Phe443Ile)
c.62-7T>A
c.922+1798T>A (n.922+1798T>A)
c.1222T>A (p.Phe408Ile)
19g.41424495T>CCA406015366BCKDHAc.1225T>C (p.Phe409Leu)
c.1234T>C (p.Phe412Leu)
c.1327T>C (p.Phe443Leu)
c.62-7T>C
c.922+1798T>C (n.922+1798T>C)
c.1222T>C (p.Phe408Leu)
19g.41424495T>GCA406015367BCKDHAc.1225T>G (p.Phe409Val)
c.1234T>G (p.Phe412Val)
c.1327T>G (p.Phe443Val)
c.62-7T>G
c.922+1798T>G (n.922+1798T>G)
c.1222T>G (p.Phe408Val)
19g.41424496T>ACA406015368BCKDHAc.1226T>A (p.Phe409Tyr)
c.1235T>A (p.Phe412Tyr)
c.1328T>A (p.Phe443Tyr)
c.62-6T>A
c.922+1799T>A (n.922+1799T>A)
c.1223T>A (p.Phe408Tyr)
19g.41424496T>CCA406015369BCKDHAc.1226T>C (p.Phe409Ser)
c.1235T>C (p.Phe412Ser)
c.1328T>C (p.Phe443Ser)
c.62-6T>C
c.922+1799T>C (n.922+1799T>C)
c.1223T>C (p.Phe408Ser)
19g.41424496T>GCA115510BCKDHAc.1226T>G (p.Phe409Cys)
c.1235T>G (p.Phe412Cys)
c.1328T>G (p.Phe443Cys)
c.62-6T>G
c.922+1799T>G (n.922+1799T>G)
c.1223T>G (p.Phe408Cys)
 ClinVar dbSNP
19g.41424496T=CA2336460044BCKDHAc.1226T= (p.Phe409=)
c.1235T= (p.Phe412=)
c.1328T= (p.Phe443=)
c.62-6T=
c.922+1799T= (n.922+1799T=)
c.1223T= (p.Phe408=)
19g.41424497C>ACA406015370BCKDHAc.1227C>A (p.Phe409Leu)
c.1236C>A (p.Phe412Leu)
c.1329C>A (p.Phe443Leu)
c.62-5C>A
c.922+1800C>A (n.922+1800C>A)
c.1224C>A (p.Phe408Leu)
 gnomAD v4
19g.41424497C=CA2336460045BCKDHAc.1227C= (p.Phe409=)
c.1236C= (p.Phe412=)
c.1329C= (p.Phe443=)
c.62-5C=
c.922+1800C= (n.922+1800C=)
c.1224C= (p.Phe408=)
19g.41424497C>GCA406015371BCKDHAc.1227C>G (p.Phe409Leu)
c.1236C>G (p.Phe412Leu)
c.1329C>G (p.Phe443Leu)
c.62-5C>G
c.922+1800C>G (n.922+1800C>G)
c.1224C>G (p.Phe408Leu)
 ClinVar dbSNP gnomAD v4
19g.41424497C>TCA507560679BCKDHAc.1227C>T (p.Phe409=)
c.1236C>T (p.Phe412=)
c.1329C>T (p.Phe443=)
c.62-5C>T
c.922+1800C>T (n.922+1800C>T)
c.1224C>T (p.Phe408=)
 dbSNP
19g.41424497_41424499delCA2695228771BCKDHAc.1227_1229del (p.Phe409_Ser410delinsLeu)
c.1236_1238del (p.Phe412_Ser413delinsLeu)
c.1329_1331del (p.Phe443_Ser444delinsLeu)
c.62-5_62-3del
c.922+1800_922+1802del (n.922+1800_922+1802del)
c.1224_1226del (p.Phe408_Ser409delinsLeu)
19g.41424498T>ACA406015372BCKDHAc.1228T>A (p.Ser410Thr)
c.1237T>A (p.Ser413Thr)
c.1330T>A (p.Ser444Thr)
c.62-4T>A
c.922+1801T>A (n.922+1801T>A)
c.1225T>A (p.Ser409Thr)
19g.41424498T>CCA406015373BCKDHAc.1228T>C (p.Ser410Pro)
c.1237T>C (p.Ser413Pro)
c.1330T>C (p.Ser444Pro)
c.62-4T>C
c.922+1801T>C (n.922+1801T>C)
c.1225T>C (p.Ser409Pro)
19g.41424498T>GCA406015375BCKDHAc.1228T>G (p.Ser410Ala)
c.1237T>G (p.Ser413Ala)
c.1330T>G (p.Ser444Ala)
c.62-4T>G
c.922+1801T>G (n.922+1801T>G)
c.1225T>G (p.Ser409Ala)
19g.41424499C>ACA406015377BCKDHAc.1229C>A (p.Ser410Ter)
c.1238C>A (p.Ser413Ter)
c.1331C>A (p.Ser444Ter)
c.62-3C>A
c.922+1802C>A (n.922+1802C>A)
c.1226C>A (p.Ser409Ter)
19g.41424499C=CA2336460046BCKDHAc.1229C= (p.Ser410=)
c.1238C= (p.Ser413=)
c.1331C= (p.Ser444=)
c.62-3C=
c.922+1802C= (n.922+1802C=)
c.1226C= (p.Ser409=)
19g.41424499C>GCA406015378BCKDHAc.1229C>G (p.Ser410Ter)
c.1238C>G (p.Ser413Ter)
c.1331C>G (p.Ser444Ter)
c.62-3C>G
c.922+1802C>G (n.922+1802C>G)
c.1226C>G (p.Ser409Ter)
19g.41424499C>TCA9461409BCKDHAc.1229C>T (p.Ser410Leu)
c.1238C>T (p.Ser413Leu)
c.1331C>T (p.Ser444Leu)
c.62-3C>T
c.922+1802C>T (n.922+1802C>T)
c.1226C>T (p.Ser409Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41424500A>CCA507560680BCKDHAc.1230A>C (p.Ser410=)
c.1239A>C (p.Ser413=)
c.1332A>C (p.Ser444=)
c.62-2A>C
c.922+1803A>C (n.922+1803A>C)
c.1227A>C (p.Ser409=)
 gnomAD v4
19g.41424500A>GCA507560681BCKDHAc.1230A>G (p.Ser410=)
c.1239A>G (p.Ser413=)
c.1332A>G (p.Ser444=)
c.62-2A>G
c.922+1803A>G (n.922+1803A>G)
c.1227A>G (p.Ser409=)
 gnomAD v4
19g.41424500A>TCA507560682BCKDHAc.1230A>T (p.Ser410=)
c.1239A>T (p.Ser413=)
c.1332A>T (p.Ser444=)
c.62-2A>T
c.922+1803A>T (n.922+1803A>T)
c.1227A>T (p.Ser409=)
19g.41424500dupCA2336460047BCKDHAc.1230dup (p.Asp411ArgfsTer?)
c.1239dup (p.Asp414ArgfsTer?)
c.1332dup (p.Asp445ArgfsTer?)
c.62-2dup
c.922+1803dup (n.922+1803dup)
c.1227dup (p.Asp410ArgfsTer?)
 dbSNP
19g.41424501G>ACA406015379BCKDHAc.1231G>A (p.Asp411Asn)
c.1240G>A (p.Asp414Asn)
c.1333G>A (p.Asp445Asn)
c.62-1G>A
c.922+1804G>A (n.922+1804G>A)
c.1228G>A (p.Asp410Asn)
19g.41424501G>CCA406015380BCKDHAc.1231G>C (p.Asp411His)
c.1240G>C (p.Asp414His)
c.1333G>C (p.Asp445His)
c.62-1G>C
c.922+1804G>C (n.922+1804G>C)
c.1228G>C (p.Asp410His)
19g.41424501G>TCA406015381BCKDHAc.1231G>T (p.Asp411Tyr)
c.1240G>T (p.Asp414Tyr)
c.1333G>T (p.Asp445Tyr)
c.62-1G>T
c.922+1804G>T (n.922+1804G>T)
c.1228G>T (p.Asp410Tyr)
19g.41424502A>CCA406015382BCKDHAc.1232A>C (p.Asp411Ala)
c.1241A>C (p.Asp414Ala)
c.1334A>C (p.Asp445Ala)
c.62A>C
c.922+1805A>C (n.922+1805A>C)
c.1229A>C (p.Asp410Ala)
19g.41424502A>GCA406015383BCKDHAc.1232A>G (p.Asp411Gly)
c.1241A>G (p.Asp414Gly)
c.1334A>G (p.Asp445Gly)
c.62A>G
c.922+1805A>G (n.922+1805A>G)
c.1229A>G (p.Asp410Gly)
19g.41424502A>TCA406015384BCKDHAc.1232A>T (p.Asp411Val)
c.1241A>T (p.Asp414Val)
c.1334A>T (p.Asp445Val)
c.62A>T
c.922+1805A>T (n.922+1805A>T)
c.1229A>T (p.Asp410Val)
19g.41424503C>ACA406015386BCKDHAc.1233C>A (p.Asp411Glu)
c.1242C>A (p.Asp414Glu)
c.1335C>A (p.Asp445Glu)
c.63C>A
c.922+1806C>A (n.922+1806C>A)
c.1230C>A (p.Asp410Glu)
19g.41424503C=CA2336460048BCKDHAc.1233C= (p.Asp411=)
c.1242C= (p.Asp414=)
c.1335C= (p.Asp445=)
c.63C=
c.922+1806C= (n.922+1806C=)
c.1230C= (p.Asp410=)
19g.41424503C>GCA406015385BCKDHAc.1233C>G (p.Asp411Glu)
c.1242C>G (p.Asp414Glu)
c.1335C>G (p.Asp445Glu)
c.63C>G
c.922+1806C>G (n.922+1806C>G)
c.1230C>G (p.Asp410Glu)
19g.41424503C>TCA9461410BCKDHAc.1233C>T (p.Asp411=)
c.1242C>T (p.Asp414=)
c.1335C>T (p.Asp445=)
c.63C>T
c.922+1806C>T (n.922+1806C>T)
c.1230C>T (p.Asp410=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424504G>ACA221182BCKDHAc.1234G>A (p.Val412Met)
c.1243G>A (p.Val415Met)
c.1336G>A (p.Val446Met)
c.64G>A
c.922+1807G>A (n.922+1807G>A)
c.1231G>A (p.Val411Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424504G>CCA406015387BCKDHAc.1234G>C (p.Val412Leu)
c.1243G>C (p.Val415Leu)
c.1336G>C (p.Val446Leu)
c.64G>C
c.922+1807G>C (n.922+1807G>C)
c.1231G>C (p.Val411Leu)
19g.41424504G=CA2336460049BCKDHAc.1234G= (p.Val412=)
c.1243G= (p.Val415=)
c.1336G= (p.Val446=)
c.64G=
c.922+1807G= (n.922+1807G=)
c.1231G= (p.Val411=)
19g.41424504G>TCA406015388BCKDHAc.1234G>T (p.Val412Leu)
c.1243G>T (p.Val415Leu)
c.1336G>T (p.Val446Leu)
c.64G>T
c.922+1807G>T (n.922+1807G>T)
c.1231G>T (p.Val411Leu)
19g.41424505T>ACA406015389BCKDHAc.1235T>A (p.Val412Glu)
c.1244T>A (p.Val415Glu)
c.1337T>A (p.Val446Glu)
c.65T>A
c.922+1808T>A (n.922+1808T>A)
c.1232T>A (p.Val411Glu)
19g.41424505T>CCA406015390BCKDHAc.1235T>C (p.Val412Ala)
c.1244T>C (p.Val415Ala)
c.1337T>C (p.Val446Ala)
c.65T>C
c.922+1808T>C (n.922+1808T>C)
c.1232T>C (p.Val411Ala)
 COSMIC

Number of alleles fetched