Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41424484_41424489dupCA658820662BCKDHAc.1214_1219dup (p.Asn406_Leu407insProAsn)
c.1223_1228dup (p.Asn409_Leu410insProAsn)
c.1316_1321dup (p.Asn440_Leu441insProAsn)
c.62-18_62-13dup
c.922+1787_922+1792dup (n.922+1787_922+1792dup)
c.1211_1216dup (p.Asn405_Leu406insProAsn)
19g.41424482C>ACA406015337BCKDHAc.1212C>A (p.Asn404Lys)
c.1221C>A (p.Asn407Lys)
c.1314C>A (p.Asn438Lys)
c.62-20C>A
c.922+1785C>A (n.922+1785C>A)
c.1209C>A (p.Asn403Lys)
gnomAD v4
19g.41424482C=CA2336460038BCKDHAc.1212C= (p.Asn404=)
c.1221C= (p.Asn407=)
c.1314C= (p.Asn438=)
c.62-20C=
c.922+1785C= (n.922+1785C=)
c.1209C= (p.Asn403=)
19g.41424482C>GCA406015338BCKDHAc.1212C>G (p.Asn404Lys)
c.1221C>G (p.Asn407Lys)
c.1314C>G (p.Asn438Lys)
c.62-20C>G
c.922+1785C>G (n.922+1785C>G)
c.1209C>G (p.Asn403Lys)
19g.41424482C>TCA308527915BCKDHAc.1212C>T (p.Asn404=)
c.1221C>T (p.Asn407=)
c.1314C>T (p.Asn438=)
c.62-20C>T
c.922+1785C>T (n.922+1785C>T)
c.1209C>T (p.Asn403=)
dbSNP
19g.41424485delCA2585308446BCKDHAc.1215del (p.Asn406ThrfsTer?)
c.1224del (p.Asn409ThrfsTer?)
c.1317del (p.Asn440ThrfsTer?)
c.62-17del
c.922+1788del (n.922+1788del)
c.1212del (p.Asn405ThrfsTer?)
gnomAD v4
19g.41424483C>ACA406015340BCKDHAc.1213C>A (p.Pro405Thr)
c.1222C>A (p.Pro408Thr)
c.1315C>A (p.Pro439Thr)
c.62-19C>A
c.922+1786C>A (n.922+1786C>A)
c.1210C>A (p.Pro404Thr)
19g.41424483C>GCA406015342BCKDHAc.1213C>G (p.Pro405Ala)
c.1222C>G (p.Pro408Ala)
c.1315C>G (p.Pro439Ala)
c.62-19C>G
c.922+1786C>G (n.922+1786C>G)
c.1210C>G (p.Pro404Ala)
19g.41424483C>TCA406015343BCKDHAc.1213C>T (p.Pro405Ser)
c.1222C>T (p.Pro408Ser)
c.1315C>T (p.Pro439Ser)
c.62-19C>T
c.922+1786C>T (n.922+1786C>T)
c.1210C>T (p.Pro404Ser)
19g.41424484C>ACA406015344BCKDHAc.1214C>A (p.Pro405His)
c.1223C>A (p.Pro408His)
c.1316C>A (p.Pro439His)
c.62-18C>A
c.922+1787C>A (n.922+1787C>A)
c.1211C>A (p.Pro404His)
19g.41424484C=CA2336460039BCKDHAc.1214C= (p.Pro405=)
c.1223C= (p.Pro408=)
c.1316C= (p.Pro439=)
c.62-18C=
c.922+1787C= (n.922+1787C=)
c.1211C= (p.Pro404=)
19g.41424484C>GCA406015345BCKDHAc.1214C>G (p.Pro405Arg)
c.1223C>G (p.Pro408Arg)
c.1316C>G (p.Pro439Arg)
c.62-18C>G
c.922+1787C>G (n.922+1787C>G)
c.1211C>G (p.Pro404Arg)
19g.41424484C>TCA406015346BCKDHAc.1214C>T (p.Pro405Leu)
c.1223C>T (p.Pro408Leu)
c.1316C>T (p.Pro439Leu)
c.62-18C>T
c.922+1787C>T (n.922+1787C>T)
c.1211C>T (p.Pro404Leu)
dbSNP
19g.41424485C>ACA507560672BCKDHAc.1215C>A (p.Pro405=)
c.1224C>A (p.Pro408=)
c.1317C>A (p.Pro439=)
c.62-17C>A
c.922+1788C>A (n.922+1788C>A)
c.1212C>A (p.Pro404=)
ClinVar dbSNP
19g.41424485C>GCA507560670BCKDHAc.1215C>G (p.Pro405=)
c.1224C>G (p.Pro408=)
c.1317C>G (p.Pro439=)
c.62-17C>G
c.922+1788C>G (n.922+1788C>G)
c.1212C>G (p.Pro404=)
19g.41424485C>TCA507560671BCKDHAc.1215C>T (p.Pro405=)
c.1224C>T (p.Pro408=)
c.1317C>T (p.Pro439=)
c.62-17C>T
c.922+1788C>T (n.922+1788C>T)
c.1212C>T (p.Pro404=)
gnomAD v4
19g.41424486A>CCA406015347BCKDHAc.1216A>C (p.Asn406His)
c.1225A>C (p.Asn409His)
c.1318A>C (p.Asn440His)
c.62-16A>C
c.922+1789A>C (n.922+1789A>C)
c.1213A>C (p.Asn405His)
19g.41424486A>GCA406015348BCKDHAc.1216A>G (p.Asn406Asp)
c.1225A>G (p.Asn409Asp)
c.1318A>G (p.Asn440Asp)
c.62-16A>G
c.922+1789A>G (n.922+1789A>G)
c.1213A>G (p.Asn405Asp)
19g.41424486A>TCA406015349BCKDHAc.1216A>T (p.Asn406Tyr)
c.1225A>T (p.Asn409Tyr)
c.1318A>T (p.Asn440Tyr)
c.62-16A>T
c.922+1789A>T (n.922+1789A>T)
c.1213A>T (p.Asn405Tyr)
19g.41424487A=CA2336460040BCKDHAc.1217A= (p.Asn406=)
c.1226A= (p.Asn409=)
c.1319A= (p.Asn440=)
c.62-15A=
c.922+1790A= (n.922+1790A=)
c.1214A= (p.Asn405=)
19g.41424487A>CCA406015350BCKDHAc.1217A>C (p.Asn406Thr)
c.1226A>C (p.Asn409Thr)
c.1319A>C (p.Asn440Thr)
c.62-15A>C
c.922+1790A>C (n.922+1790A>C)
c.1214A>C (p.Asn405Thr)
19g.41424487A>GCA9461407BCKDHAc.1217A>G (p.Asn406Ser)
c.1226A>G (p.Asn409Ser)
c.1319A>G (p.Asn440Ser)
c.62-15A>G
c.922+1790A>G (n.922+1790A>G)
c.1214A>G (p.Asn405Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424487A>TCA406015351BCKDHAc.1217A>T (p.Asn406Ile)
c.1226A>T (p.Asn409Ile)
c.1319A>T (p.Asn440Ile)
c.62-15A>T
c.922+1790A>T (n.922+1790A>T)
c.1214A>T (p.Asn405Ile)
19g.41424488C>ACA406015352BCKDHAc.1218C>A (p.Asn406Lys)
c.1227C>A (p.Asn409Lys)
c.1320C>A (p.Asn440Lys)
c.62-14C>A
c.922+1791C>A (n.922+1791C>A)
c.1215C>A (p.Asn405Lys)
19g.41424488C>GCA406015353BCKDHAc.1218C>G (p.Asn406Lys)
c.1227C>G (p.Asn409Lys)
c.1320C>G (p.Asn440Lys)
c.62-14C>G
c.922+1791C>G (n.922+1791C>G)
c.1215C>G (p.Asn405Lys)
19g.41424488C>TCA507560673BCKDHAc.1218C>T (p.Asn406=)
c.1227C>T (p.Asn409=)
c.1320C>T (p.Asn440=)
c.62-14C>T
c.922+1791C>T (n.922+1791C>T)
c.1215C>T (p.Asn405=)
ClinVar
19g.41424489C>ACA406015354BCKDHAc.1219C>A (p.Leu407Ile)
c.1228C>A (p.Leu410Ile)
c.1321C>A (p.Leu441Ile)
c.62-13C>A
c.922+1792C>A (n.922+1792C>A)
c.1216C>A (p.Leu406Ile)
19g.41424489C>GCA406015355BCKDHAc.1219C>G (p.Leu407Val)
c.1228C>G (p.Leu410Val)
c.1321C>G (p.Leu441Val)
c.62-13C>G
c.922+1792C>G (n.922+1792C>G)
c.1216C>G (p.Leu406Val)
19g.41424489C>TCA507560674BCKDHAc.1219C>T (p.Leu407=)
c.1228C>T (p.Leu410=)
c.1321C>T (p.Leu441=)
c.62-13C>T
c.922+1792C>T (n.922+1792C>T)
c.1216C>T (p.Leu406=)
19g.41424490T>ACA406015356BCKDHAc.1220T>A (p.Leu407Gln)
c.1229T>A (p.Leu410Gln)
c.1322T>A (p.Leu441Gln)
c.62-12T>A
c.922+1793T>A (n.922+1793T>A)
c.1217T>A (p.Leu406Gln)
19g.41424490T>CCA406015357BCKDHAc.1220T>C (p.Leu407Pro)
c.1229T>C (p.Leu410Pro)
c.1322T>C (p.Leu441Pro)
c.62-12T>C
c.922+1793T>C (n.922+1793T>C)
c.1217T>C (p.Leu406Pro)
19g.41424490T>GCA406015358BCKDHAc.1220T>G (p.Leu407Arg)
c.1229T>G (p.Leu410Arg)
c.1322T>G (p.Leu441Arg)
c.62-12T>G
c.922+1793T>G (n.922+1793T>G)
c.1217T>G (p.Leu406Arg)
19g.41424491A=CA2336460041BCKDHAc.1221A= (p.Leu407=)
c.1230A= (p.Leu410=)
c.1323A= (p.Leu441=)
c.62-11A=
c.922+1794A= (n.922+1794A=)
c.1218A= (p.Leu406=)
19g.41424491A>CCA507560675BCKDHAc.1221A>C (p.Leu407=)
c.1230A>C (p.Leu410=)
c.1323A>C (p.Leu441=)
c.62-11A>C
c.922+1794A>C (n.922+1794A>C)
c.1218A>C (p.Leu406=)
19g.41424491A>GCA146869BCKDHAc.1221A>G (p.Leu407=)
c.1230A>G (p.Leu410=)
c.1323A>G (p.Leu441=)
c.62-11A>G
c.922+1794A>G (n.922+1794A>G)
c.1218A>G (p.Leu406=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424491A>TCA507560676BCKDHAc.1221A>T (p.Leu407=)
c.1230A>T (p.Leu410=)
c.1323A>T (p.Leu441=)
c.62-11A>T
c.922+1794A>T (n.922+1794A>T)
c.1218A>T (p.Leu406=)
gnomAD v4
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)

Number of alleles fetched