Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41424415C=CA2336460003BCKDHAc.1168-23C= (n.1168-23C=)
c.1177-23C= (n.1177-23C=)
c.1270-23C= (n.1270-23C=)
c.62-87C=
c.922+1718C= (n.922+1718C=)
c.1165-23C= (n.1165-23C=)
19g.41424415C>TCA633470476BCKDHAc.1168-23C>T (n.1168-23C>T)
c.1177-23C>T (n.1177-23C>T)
c.1270-23C>T (n.1270-23C>T)
c.62-87C>T
c.922+1718C>T (n.922+1718C>T)
c.1165-23C>T (n.1165-23C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.41424417C=CA2336460004BCKDHAc.1168-21C= (n.1168-21C=)
c.1177-21C= (n.1177-21C=)
c.1270-21C= (n.1270-21C=)
c.62-85C=
c.922+1720C= (n.922+1720C=)
c.1165-21C= (n.1165-21C=)
19g.41424417C>TCA9461391BCKDHAc.1168-21C>T (n.1168-21C>T)
c.1177-21C>T (n.1177-21C>T)
c.1270-21C>T (n.1270-21C>T)
c.62-85C>T
c.922+1720C>T (n.922+1720C>T)
c.1165-21C>T (n.1165-21C>T)
 dbSNP ExAC gnomAD v2
19g.41424418A>TCA2585308437BCKDHAc.1168-20A>T (n.1168-20A>T)
c.1177-20A>T (n.1177-20A>T)
c.1270-20A>T (n.1270-20A>T)
c.62-84A>T
c.922+1721A>T (n.922+1721A>T)
c.1165-20A>T (n.1165-20A>T)
 gnomAD v4
19g.41424419C>TCA2585308438BCKDHAc.1168-19C>T (n.1168-19C>T)
c.1177-19C>T (n.1177-19C>T)
c.1270-19C>T (n.1270-19C>T)
c.62-83C>T
c.922+1722C>T (n.922+1722C>T)
c.1165-19C>T (n.1165-19C>T)
 gnomAD v4
19g.41424420T>CCA2585308439BCKDHAc.1168-18T>C (n.1168-18T>C)
c.1177-18T>C (n.1177-18T>C)
c.1270-18T>C (n.1270-18T>C)
c.62-82T>C
c.922+1723T>C (n.922+1723T>C)
c.1165-18T>C (n.1165-18T>C)
 gnomAD v4
19g.41424421G>ACA2336460006BCKDHAc.1168-17G>A (n.1168-17G>A)
c.1177-17G>A (n.1177-17G>A)
c.1270-17G>A (n.1270-17G>A)
c.62-81G>A
c.922+1724G>A (n.922+1724G>A)
c.1165-17G>A (n.1165-17G>A)
 dbSNP
19g.41424421G>CCA2585308440BCKDHAc.1168-17G>C (n.1168-17G>C)
c.1177-17G>C (n.1177-17G>C)
c.1270-17G>C (n.1270-17G>C)
c.62-81G>C
c.922+1724G>C (n.922+1724G>C)
c.1165-17G>C (n.1165-17G>C)
 gnomAD v4
19g.41424421G=CA2336460005BCKDHAc.1168-17G= (n.1168-17G=)
c.1177-17G= (n.1177-17G=)
c.1270-17G= (n.1270-17G=)
c.62-81G=
c.922+1724G= (n.922+1724G=)
c.1165-17G= (n.1165-17G=)
19g.41424422C>TCA2585308441BCKDHAc.1168-16C>T (n.1168-16C>T)
c.1177-16C>T (n.1177-16C>T)
c.1270-16C>T (n.1270-16C>T)
c.62-80C>T
c.922+1725C>T (n.922+1725C>T)
c.1165-16C>T (n.1165-16C>T)
 ClinVar gnomAD v4
19g.41424423C>ACA633470477BCKDHAc.1168-15C>A (n.1168-15C>A)
c.1177-15C>A (n.1177-15C>A)
c.1270-15C>A (n.1270-15C>A)
c.62-79C>A
c.922+1726C>A (n.922+1726C>A)
c.1165-15C>A (n.1165-15C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41424423C=CA2336460007BCKDHAc.1168-15C= (n.1168-15C=)
c.1177-15C= (n.1177-15C=)
c.1270-15C= (n.1270-15C=)
c.62-79C=
c.922+1726C= (n.922+1726C=)
c.1165-15C= (n.1165-15C=)
19g.41424423C>TCA2585308442BCKDHAc.1168-15C>T (n.1168-15C>T)
c.1177-15C>T (n.1177-15C>T)
c.1270-15C>T (n.1270-15C>T)
c.62-79C>T
c.922+1726C>T (n.922+1726C>T)
c.1165-15C>T (n.1165-15C>T)
 gnomAD v4
19g.41424424C>TCA2576793880BCKDHAc.1168-14C>T (n.1168-14C>T)
c.1177-14C>T (n.1177-14C>T)
c.1270-14C>T (n.1270-14C>T)
c.62-78C>T
c.922+1727C>T (n.922+1727C>T)
c.1165-14C>T (n.1165-14C>T)
19g.41424425C=CA2336460008BCKDHAc.1168-13C= (n.1168-13C=)
c.1177-13C= (n.1177-13C=)
c.1270-13C= (n.1270-13C=)
c.62-77C=
c.922+1728C= (n.922+1728C=)
c.1165-13C= (n.1165-13C=)
19g.41424425C>GCA9461392BCKDHAc.1168-13C>G (n.1168-13C>G)
c.1177-13C>G (n.1177-13C>G)
c.1270-13C>G (n.1270-13C>G)
c.62-77C>G
c.922+1728C>G (n.922+1728C>G)
c.1165-13C>G (n.1165-13C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41424426A=CA2336460009BCKDHAc.1168-12A= (n.1168-12A=)
c.1177-12A= (n.1177-12A=)
c.1270-12A= (n.1270-12A=)
c.62-76A=
c.922+1729A= (n.922+1729A=)
c.1165-12A= (n.1165-12A=)
19g.41424426A>GCA9461393BCKDHAc.1168-12A>G (n.1168-12A>G)
c.1177-12A>G (n.1177-12A>G)
c.1270-12A>G (n.1270-12A>G)
c.62-76A>G
c.922+1729A>G (n.922+1729A>G)
c.1165-12A>G (n.1165-12A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424427T>GCA2336460011BCKDHAc.1168-11T>G (n.1168-11T>G)
c.1177-11T>G (n.1177-11T>G)
c.1270-11T>G (n.1270-11T>G)
c.62-75T>G
c.922+1730T>G (n.922+1730T>G)
c.1165-11T>G (n.1165-11T>G)
 dbSNP
19g.41424427T=CA2336460010BCKDHAc.1168-11T= (n.1168-11T=)
c.1177-11T= (n.1177-11T=)
c.1270-11T= (n.1270-11T=)
c.62-75T=
c.922+1730T= (n.922+1730T=)
c.1165-11T= (n.1165-11T=)
19g.41424427dupCA2739276840BCKDHAc.1168-11dup (n.1168-11dup)
c.1177-11dup (n.1177-11dup)
c.1270-11dup (n.1270-11dup)
c.62-75dup
c.922+1730dup (n.922+1730dup)
c.1165-11dup (n.1165-11dup)
 ClinVar
19g.41424428G>CCA2739276841BCKDHAc.1168-10G>C (n.1168-10G>C)
c.1177-10G>C (n.1177-10G>C)
c.1270-10G>C (n.1270-10G>C)
c.62-74G>C
c.922+1731G>C (n.922+1731G>C)
c.1165-10G>C (n.1165-10G>C)
 ClinVar
19g.41424430C=CA2336460012BCKDHAc.1168-8C= (n.1168-8C=)
c.1177-8C= (n.1177-8C=)
c.1270-8C= (n.1270-8C=)
c.62-72C=
c.922+1733C= (n.922+1733C=)
c.1165-8C= (n.1165-8C=)
19g.41424430C>GCA2336460013BCKDHAc.1168-8C>G (n.1168-8C>G)
c.1177-8C>G (n.1177-8C>G)
c.1270-8C>G (n.1270-8C>G)
c.62-72C>G
c.922+1733C>G (n.922+1733C>G)
c.1165-8C>G (n.1165-8C>G)
 ClinVar dbSNP
19g.41424430C>TCA2336460014BCKDHAc.1168-8C>T (n.1168-8C>T)
c.1177-8C>T (n.1177-8C>T)
c.1270-8C>T (n.1270-8C>T)
c.62-72C>T
c.922+1733C>T (n.922+1733C>T)
c.1165-8C>T (n.1165-8C>T)
 dbSNP
19g.41424432C=CA2336460015BCKDHAc.1168-6C= (n.1168-6C=)
c.1177-6C= (n.1177-6C=)
c.1270-6C= (n.1270-6C=)
c.62-70C=
c.922+1735C= (n.922+1735C=)
c.1165-6C= (n.1165-6C=)
19g.41424432C>GCA308527852BCKDHAc.1168-6C>G (n.1168-6C>G)
c.1177-6C>G (n.1177-6C>G)
c.1270-6C>G (n.1270-6C>G)
c.62-70C>G
c.922+1735C>G (n.922+1735C>G)
c.1165-6C>G (n.1165-6C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424432C>TCA995977416BCKDHAc.1168-6C>T (n.1168-6C>T)
c.1177-6C>T (n.1177-6C>T)
c.1270-6C>T (n.1270-6C>T)
c.62-70C>T
c.922+1735C>T (n.922+1735C>T)
c.1165-6C>T (n.1165-6C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41424433C=CA2336460016BCKDHAc.1168-5C= (n.1168-5C=)
c.1177-5C= (n.1177-5C=)
c.1270-5C= (n.1270-5C=)
c.62-69C=
c.922+1736C= (n.922+1736C=)
c.1165-5C= (n.1165-5C=)
19g.41424433C>TCA633470494BCKDHAc.1168-5C>T (n.1168-5C>T)
c.1177-5C>T (n.1177-5C>T)
c.1270-5C>T (n.1270-5C>T)
c.62-69C>T
c.922+1736C>T (n.922+1736C>T)
c.1165-5C>T (n.1165-5C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424434A=CA2336460017BCKDHAc.1168-4A= (n.1168-4A=)
c.1177-4A= (n.1177-4A=)
c.1270-4A= (n.1270-4A=)
c.62-68A=
c.922+1737A= (n.922+1737A=)
c.1165-4A= (n.1165-4A=)
19g.41424434A>GCA2336460018BCKDHAc.1168-4A>G (n.1168-4A>G)
c.1177-4A>G (n.1177-4A>G)
c.1270-4A>G (n.1270-4A>G)
c.62-68A>G
c.922+1737A>G (n.922+1737A>G)
c.1165-4A>G (n.1165-4A>G)
 ClinVar dbSNP gnomAD v4
19g.41424434dupCA2585308443BCKDHAc.1168-4dup (n.1168-4dup)
c.1177-4dup (n.1177-4dup)
c.1270-4dup (n.1270-4dup)
c.62-68dup
c.922+1737dup (n.922+1737dup)
c.1165-4dup (n.1165-4dup)
 gnomAD v4
19g.41424435C>TCA2585308444BCKDHAc.1168-3C>T (n.1168-3C>T)
c.1177-3C>T (n.1177-3C>T)
c.1270-3C>T (n.1270-3C>T)
c.62-67C>T
c.922+1738C>T (n.922+1738C>T)
c.1165-3C>T (n.1165-3C>T)
 gnomAD v4
19g.41424436A=CA2336460019BCKDHAc.1168-2A= (n.1168-2A=)
c.1177-2A= (n.1177-2A=)
c.1270-2A= (n.1270-2A=)
c.62-66A=
c.922+1739A= (n.922+1739A=)
c.1165-2A= (n.1165-2A=)
19g.41424436A>CCA406015130BCKDHAc.1168-2A>C (n.1168-2A>C)
c.1177-2A>C (n.1177-2A>C)
c.1270-2A>C (n.1270-2A>C)
c.62-66A>C
c.922+1739A>C (n.922+1739A>C)
c.1165-2A>C (n.1165-2A>C)
19g.41424436A>GCA406015132BCKDHAc.1168-2A>G (n.1168-2A>G)
c.1177-2A>G (n.1177-2A>G)
c.1270-2A>G (n.1270-2A>G)
c.62-66A>G
c.922+1739A>G (n.922+1739A>G)
c.1165-2A>G (n.1165-2A>G)
 ClinVar dbSNP gnomAD v4
19g.41424436A>TCA406015134BCKDHAc.1168-2A>T (n.1168-2A>T)
c.1177-2A>T (n.1177-2A>T)
c.1270-2A>T (n.1270-2A>T)
c.62-66A>T
c.922+1739A>T (n.922+1739A>T)
c.1165-2A>T (n.1165-2A>T)
19g.41424437G>ACA406015139BCKDHAc.1168-1G>A (n.1168-1G>A)
c.1177-1G>A (n.1177-1G>A)
c.1270-1G>A (n.1270-1G>A)
c.62-65G>A
c.922+1740G>A (n.922+1740G>A)
c.1165-1G>A (n.1165-1G>A)
 ClinVar dbSNP
19g.41424437G>CCA406015137BCKDHAc.1168-1G>C (n.1168-1G>C)
c.1177-1G>C (n.1177-1G>C)
c.1270-1G>C (n.1270-1G>C)
c.62-65G>C
c.922+1740G>C (n.922+1740G>C)
c.1165-1G>C (n.1165-1G>C)
19g.41424437G=CA2336460020BCKDHAc.1168-1G= (n.1168-1G=)
c.1177-1G= (n.1177-1G=)
c.1270-1G= (n.1270-1G=)
c.62-65G=
c.922+1740G= (n.922+1740G=)
c.1165-1G= (n.1165-1G=)
19g.41424437G>TCA406015138BCKDHAc.1168-1G>T (n.1168-1G>T)
c.1177-1G>T (n.1177-1G>T)
c.1270-1G>T (n.1270-1G>T)
c.62-65G>T
c.922+1740G>T (n.922+1740G>T)
c.1165-1G>T (n.1165-1G>T)
19g.41424438G>ACA9461394BCKDHAc.1168G>A (p.Val390Met)
c.1177G>A (p.Val393Met)
c.1270G>A (p.Val424Met)
c.62-64G>A
c.922+1741G>A (n.922+1741G>A)
c.1165G>A (p.Val389Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41424438G>CCA406015142BCKDHAc.1168G>C (p.Val390Leu)
c.1177G>C (p.Val393Leu)
c.1270G>C (p.Val424Leu)
c.62-64G>C
c.922+1741G>C (n.922+1741G>C)
c.1165G>C (p.Val389Leu)
19g.41424438G=CA2336460021BCKDHAc.1168G= (p.Val390=)
c.1177G= (p.Val393=)
c.1270G= (p.Val424=)
c.62-64G=
c.922+1741G= (n.922+1741G=)
c.1165G= (p.Val389=)
19g.41424438G>TCA406015144BCKDHAc.1168G>T (p.Val390Leu)
c.1177G>T (p.Val393Leu)
c.1270G>T (p.Val424Leu)
c.62-64G>T
c.922+1741G>T (n.922+1741G>T)
c.1165G>T (p.Val389Leu)
19g.41424439T>ACA406015147BCKDHAc.1169T>A (p.Val390Glu)
c.1178T>A (p.Val393Glu)
c.1271T>A (p.Val424Glu)
c.62-63T>A
c.922+1742T>A (n.922+1742T>A)
c.1166T>A (p.Val389Glu)
19g.41424439T>CCA406015148BCKDHAc.1169T>C (p.Val390Ala)
c.1178T>C (p.Val393Ala)
c.1271T>C (p.Val424Ala)
c.62-63T>C
c.922+1742T>C (n.922+1742T>C)
c.1166T>C (p.Val389Ala)
19g.41424439T>GCA406015150BCKDHAc.1169T>G (p.Val390Gly)
c.1178T>G (p.Val393Gly)
c.1271T>G (p.Val424Gly)
c.62-63T>G
c.922+1742T>G (n.922+1742T>G)
c.1166T>G (p.Val389Gly)
19g.41424440G>ACA9461395BCKDHAc.1170G>A (p.Val390=)
c.1179G>A (p.Val393=)
c.1272G>A (p.Val424=)
c.62-62G>A
c.922+1743G>A (n.922+1743G>A)
c.1167G>A (p.Val389=)
 ClinVar dbSNP ExAC gnomAD v2
19g.41424440G>CCA507560649BCKDHAc.1170G>C (p.Val390=)
c.1179G>C (p.Val393=)
c.1272G>C (p.Val424=)
c.62-62G>C
c.922+1743G>C (n.922+1743G>C)
c.1167G>C (p.Val389=)
19g.41424440G=CA2336460022BCKDHAc.1170G= (p.Val390=)
c.1179G= (p.Val393=)
c.1272G= (p.Val424=)
c.62-62G=
c.922+1743G= (n.922+1743G=)
c.1167G= (p.Val389=)
19g.41424440G>TCA507560648BCKDHAc.1170G>T (p.Val390=)
c.1179G>T (p.Val393=)
c.1272G>T (p.Val424=)
c.62-62G>T
c.922+1743G>T (n.922+1743G>T)
c.1167G>T (p.Val389=)
19g.41424441A>CCA406015153BCKDHAc.1171A>C (p.Met391Leu)
c.1180A>C (p.Met394Leu)
c.1273A>C (p.Met425Leu)
c.62-61A>C
c.922+1744A>C (n.922+1744A>C)
c.1168A>C (p.Met390Leu)
19g.41424441A>GCA406015155BCKDHAc.1171A>G (p.Met391Val)
c.1180A>G (p.Met394Val)
c.1273A>G (p.Met425Val)
c.62-61A>G
c.922+1744A>G (n.922+1744A>G)
c.1168A>G (p.Met390Val)
19g.41424441A>TCA406015156BCKDHAc.1171A>T (p.Met391Leu)
c.1180A>T (p.Met394Leu)
c.1273A>T (p.Met425Leu)
c.62-61A>T
c.922+1744A>T (n.922+1744A>T)
c.1168A>T (p.Met390Leu)
19g.41424442T>ACA406015158BCKDHAc.1172T>A (p.Met391Lys)
c.1181T>A (p.Met394Lys)
c.1274T>A (p.Met425Lys)
c.62-60T>A
c.922+1745T>A (n.922+1745T>A)
c.1169T>A (p.Met390Lys)
19g.41424442T>CCA406015160BCKDHAc.1172T>C (p.Met391Thr)
c.1181T>C (p.Met394Thr)
c.1274T>C (p.Met425Thr)
c.62-60T>C
c.922+1745T>C (n.922+1745T>C)
c.1169T>C (p.Met390Thr)
 COSMIC
19g.41424442T>GCA406015162BCKDHAc.1172T>G (p.Met391Arg)
c.1181T>G (p.Met394Arg)
c.1274T>G (p.Met425Arg)
c.62-60T>G
c.922+1745T>G (n.922+1745T>G)
c.1169T>G (p.Met390Arg)
 gnomAD v4
19g.41424443G>ACA406015164BCKDHAc.1173G>A (p.Met391Ile)
c.1182G>A (p.Met394Ile)
c.1275G>A (p.Met425Ile)
c.62-59G>A
c.922+1746G>A (n.922+1746G>A)
c.1170G>A (p.Met390Ile)
19g.41424443G>CCA406015167BCKDHAc.1173G>C (p.Met391Ile)
c.1182G>C (p.Met394Ile)
c.1275G>C (p.Met425Ile)
c.62-59G>C
c.922+1746G>C (n.922+1746G>C)
c.1170G>C (p.Met390Ile)
19g.41424443G>TCA406015165BCKDHAc.1173G>T (p.Met391Ile)
c.1182G>T (p.Met394Ile)
c.1275G>T (p.Met425Ile)
c.62-59G>T
c.922+1746G>T (n.922+1746G>T)
c.1170G>T (p.Met390Ile)
19g.41424444G>ACA406015169BCKDHAc.1174G>A (p.Glu392Lys)
c.1183G>A (p.Glu395Lys)
c.1276G>A (p.Glu426Lys)
c.62-58G>A
c.922+1747G>A (n.922+1747G>A)
c.1171G>A (p.Glu391Lys)
19g.41424444G>CCA406015170BCKDHAc.1174G>C (p.Glu392Gln)
c.1183G>C (p.Glu395Gln)
c.1276G>C (p.Glu426Gln)
c.62-58G>C
c.922+1747G>C (n.922+1747G>C)
c.1171G>C (p.Glu391Gln)
19g.41424444G>TCA406015172BCKDHAc.1174G>T (p.Glu392Ter)
c.1183G>T (p.Glu395Ter)
c.1276G>T (p.Glu426Ter)
c.62-58G>T
c.922+1747G>T (n.922+1747G>T)
c.1171G>T (p.Glu391Ter)
19g.41424445A=CA2336460023BCKDHAc.1175A= (p.Glu392=)
c.1184A= (p.Glu395=)
c.1277A= (p.Glu426=)
c.62-57A=
c.922+1748A= (n.922+1748A=)
c.1172A= (p.Glu391=)
19g.41424445A>CCA406015174BCKDHAc.1175A>C (p.Glu392Ala)
c.1184A>C (p.Glu395Ala)
c.1277A>C (p.Glu426Ala)
c.62-57A>C
c.922+1748A>C (n.922+1748A>C)
c.1172A>C (p.Glu391Ala)
19g.41424445A>GCA9461396BCKDHAc.1175A>G (p.Glu392Gly)
c.1184A>G (p.Glu395Gly)
c.1277A>G (p.Glu426Gly)
c.62-57A>G
c.922+1748A>G (n.922+1748A>G)
c.1172A>G (p.Glu391Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41424445A>TCA406015177BCKDHAc.1175A>T (p.Glu392Val)
c.1184A>T (p.Glu395Val)
c.1277A>T (p.Glu426Val)
c.62-57A>T
c.922+1748A>T (n.922+1748A>T)
c.1172A>T (p.Glu391Val)
19g.41424446G>ACA9461397BCKDHAc.1176G>A (p.Glu392=)
c.1185G>A (p.Glu395=)
c.1278G>A (p.Glu426=)
c.62-56G>A
c.922+1749G>A (n.922+1749G>A)
c.1173G>A (p.Glu391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424446G>CCA406015180BCKDHAc.1176G>C (p.Glu392Asp)
c.1185G>C (p.Glu395Asp)
c.1278G>C (p.Glu426Asp)
c.62-56G>C
c.922+1749G>C (n.922+1749G>C)
c.1173G>C (p.Glu391Asp)
19g.41424446G=CA2336460024BCKDHAc.1176G= (p.Glu392=)
c.1185G= (p.Glu395=)
c.1278G= (p.Glu426=)
c.62-56G=
c.922+1749G= (n.922+1749G=)
c.1173G= (p.Glu391=)
19g.41424446G>TCA406015182BCKDHAc.1176G>T (p.Glu392Asp)
c.1185G>T (p.Glu395Asp)
c.1278G>T (p.Glu426Asp)
c.62-56G>T
c.922+1749G>T (n.922+1749G>T)
c.1173G>T (p.Glu391Asp)
19g.41424447G>ACA406015184BCKDHAc.1177G>A (p.Ala393Thr)
c.1186G>A (p.Ala396Thr)
c.1279G>A (p.Ala427Thr)
c.62-55G>A
c.922+1750G>A (n.922+1750G>A)
c.1174G>A (p.Ala392Thr)
19g.41424447G>CCA406015186BCKDHAc.1177G>C (p.Ala393Pro)
c.1186G>C (p.Ala396Pro)
c.1279G>C (p.Ala427Pro)
c.62-55G>C
c.922+1750G>C (n.922+1750G>C)
c.1174G>C (p.Ala392Pro)
19g.41424447G>TCA406015188BCKDHAc.1177G>T (p.Ala393Ser)
c.1186G>T (p.Ala396Ser)
c.1279G>T (p.Ala427Ser)
c.62-55G>T
c.922+1750G>T (n.922+1750G>T)
c.1174G>T (p.Ala392Ser)
19g.41424448C>ACA406015194BCKDHAc.1178C>A (p.Ala393Asp)
c.1187C>A (p.Ala396Asp)
c.1280C>A (p.Ala427Asp)
c.62-54C>A
c.922+1751C>A (n.922+1751C>A)
c.1175C>A (p.Ala392Asp)
 gnomAD v4
19g.41424448C>GCA406015191BCKDHAc.1178C>G (p.Ala393Gly)
c.1187C>G (p.Ala396Gly)
c.1280C>G (p.Ala427Gly)
c.62-54C>G
c.922+1751C>G (n.922+1751C>G)
c.1175C>G (p.Ala392Gly)
19g.41424448C>TCA406015192BCKDHAc.1178C>T (p.Ala393Val)
c.1187C>T (p.Ala396Val)
c.1280C>T (p.Ala427Val)
c.62-54C>T
c.922+1751C>T (n.922+1751C>T)
c.1175C>T (p.Ala392Val)
19g.41424449C>ACA507560650BCKDHAc.1179C>A (p.Ala393=)
c.1188C>A (p.Ala396=)
c.1281C>A (p.Ala427=)
c.62-53C>A
c.922+1752C>A (n.922+1752C>A)
c.1176C>A (p.Ala392=)
19g.41424449C>GCA507560651BCKDHAc.1179C>G (p.Ala393=)
c.1188C>G (p.Ala396=)
c.1281C>G (p.Ala427=)
c.62-53C>G
c.922+1752C>G (n.922+1752C>G)
c.1176C>G (p.Ala392=)
 ClinVar dbSNP gnomAD v4
19g.41424449C>TCA507560652BCKDHAc.1179C>T (p.Ala393=)
c.1188C>T (p.Ala396=)
c.1281C>T (p.Ala427=)
c.62-53C>T
c.922+1752C>T (n.922+1752C>T)
c.1176C>T (p.Ala392=)
19g.41424449_41424450delCA2695198208BCKDHAc.1179_1180del (p.Phe394Ter)
c.1188_1189del (p.Phe397Ter)
c.1281_1282del (p.Phe428Ter)
c.62-53_62-52del
c.922+1752_922+1753del (n.922+1752_922+1753del)
c.1176_1177del (p.Phe393Ter)
 ClinVar
19g.41424450T>ACA406015197BCKDHAc.1180T>A (p.Phe394Ile)
c.1189T>A (p.Phe397Ile)
c.1282T>A (p.Phe428Ile)
c.62-52T>A
c.922+1753T>A (n.922+1753T>A)
c.1177T>A (p.Phe393Ile)
19g.41424450T>CCA406015198BCKDHAc.1180T>C (p.Phe394Leu)
c.1189T>C (p.Phe397Leu)
c.1282T>C (p.Phe428Leu)
c.62-52T>C
c.922+1753T>C (n.922+1753T>C)
c.1177T>C (p.Phe393Leu)
 ClinVar
19g.41424450T>GCA406015200BCKDHAc.1180T>G (p.Phe394Val)
c.1189T>G (p.Phe397Val)
c.1282T>G (p.Phe428Val)
c.62-52T>G
c.922+1753T>G (n.922+1753T>G)
c.1177T>G (p.Phe393Val)
19g.41424451T>ACA406015203BCKDHAc.1181T>A (p.Phe394Tyr)
c.1190T>A (p.Phe397Tyr)
c.1283T>A (p.Phe428Tyr)
c.62-51T>A
c.922+1754T>A (n.922+1754T>A)
c.1178T>A (p.Phe393Tyr)
19g.41424451T>CCA406015204BCKDHAc.1181T>C (p.Phe394Ser)
c.1190T>C (p.Phe397Ser)
c.1283T>C (p.Phe428Ser)
c.62-51T>C
c.922+1754T>C (n.922+1754T>C)
c.1178T>C (p.Phe393Ser)
19g.41424451T>GCA406015205BCKDHAc.1181T>G (p.Phe394Cys)
c.1190T>G (p.Phe397Cys)
c.1283T>G (p.Phe428Cys)
c.62-51T>G
c.922+1754T>G (n.922+1754T>G)
c.1178T>G (p.Phe393Cys)
19g.41424452T>ACA406015208BCKDHAc.1182T>A (p.Phe394Leu)
c.1191T>A (p.Phe397Leu)
c.1284T>A (p.Phe428Leu)
c.62-50T>A
c.922+1755T>A (n.922+1755T>A)
c.1179T>A (p.Phe393Leu)
19g.41424452T>CCA507560653BCKDHAc.1182T>C (p.Phe394=)
c.1191T>C (p.Phe397=)
c.1284T>C (p.Phe428=)
c.62-50T>C
c.922+1755T>C (n.922+1755T>C)
c.1179T>C (p.Phe393=)
 ClinVar
19g.41424452T>GCA9461398BCKDHAc.1182T>G (p.Phe394Leu)
c.1191T>G (p.Phe397Leu)
c.1284T>G (p.Phe428Leu)
c.62-50T>G
c.922+1755T>G (n.922+1755T>G)
c.1179T>G (p.Phe393Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424452T=CA2336460025BCKDHAc.1182T= (p.Phe394=)
c.1191T= (p.Phe397=)
c.1284T= (p.Phe428=)
c.62-50T=
c.922+1755T= (n.922+1755T=)
c.1179T= (p.Phe393=)
19g.41424453G>ACA406015211BCKDHAc.1183G>A (p.Glu395Lys)
c.1192G>A (p.Glu398Lys)
c.1285G>A (p.Glu429Lys)
c.62-49G>A
c.922+1756G>A (n.922+1756G>A)
c.1180G>A (p.Glu394Lys)
19g.41424453G>CCA406015213BCKDHAc.1183G>C (p.Glu395Gln)
c.1192G>C (p.Glu398Gln)
c.1285G>C (p.Glu429Gln)
c.62-49G>C
c.922+1756G>C (n.922+1756G>C)
c.1180G>C (p.Glu394Gln)
19g.41424453G>TCA406015215BCKDHAc.1183G>T (p.Glu395Ter)
c.1192G>T (p.Glu398Ter)
c.1285G>T (p.Glu429Ter)
c.62-49G>T
c.922+1756G>T (n.922+1756G>T)
c.1180G>T (p.Glu394Ter)
19g.41424454A>CCA406015221BCKDHAc.1184A>C (p.Glu395Ala)
c.1193A>C (p.Glu398Ala)
c.1286A>C (p.Glu429Ala)
c.62-48A>C
c.922+1757A>C (n.922+1757A>C)
c.1181A>C (p.Glu394Ala)
19g.41424454A>GCA406015219BCKDHAc.1184A>G (p.Glu395Gly)
c.1193A>G (p.Glu398Gly)
c.1286A>G (p.Glu429Gly)
c.62-48A>G
c.922+1757A>G (n.922+1757A>G)
c.1181A>G (p.Glu394Gly)
19g.41424454A>TCA406015218BCKDHAc.1184A>T (p.Glu395Val)
c.1193A>T (p.Glu398Val)
c.1286A>T (p.Glu429Val)
c.62-48A>T
c.922+1757A>T (n.922+1757A>T)
c.1181A>T (p.Glu394Val)
19g.41424454_41424469delCA2585308445BCKDHAc.1184_1199del (p.Glu395GlyfsTer?)
c.1193_1208del (p.Glu398GlyfsTer?)
c.1286_1301del (p.Glu429GlyfsTer?)
c.62-48_62-33del
c.922+1757_922+1772del (n.922+1757_922+1772del)
c.1181_1196del (p.Glu394GlyfsTer?)
 gnomAD v4
19g.41424455G>ACA507560654BCKDHAc.1185G>A (p.Glu395=)
c.1194G>A (p.Glu398=)
c.1287G>A (p.Glu429=)
c.62-47G>A
c.922+1758G>A (n.922+1758G>A)
c.1182G>A (p.Glu394=)
19g.41424455G>CCA406015224BCKDHAc.1185G>C (p.Glu395Asp)
c.1194G>C (p.Glu398Asp)
c.1287G>C (p.Glu429Asp)
c.62-47G>C
c.922+1758G>C (n.922+1758G>C)
c.1182G>C (p.Glu394Asp)
19g.41424455G>TCA406015225BCKDHAc.1185G>T (p.Glu395Asp)
c.1194G>T (p.Glu398Asp)
c.1287G>T (p.Glu429Asp)
c.62-47G>T
c.922+1758G>T (n.922+1758G>T)
c.1182G>T (p.Glu394Asp)
19g.41424456C>ACA406015227BCKDHAc.1186C>A (p.Gln396Lys)
c.1195C>A (p.Gln399Lys)
c.1288C>A (p.Gln430Lys)
c.62-46C>A
c.922+1759C>A (n.922+1759C>A)
c.1183C>A (p.Gln395Lys)
19g.41424456C>GCA406015229BCKDHAc.1186C>G (p.Gln396Glu)
c.1195C>G (p.Gln399Glu)
c.1288C>G (p.Gln430Glu)
c.62-46C>G
c.922+1759C>G (n.922+1759C>G)
c.1183C>G (p.Gln395Glu)
19g.41424456C>TCA406015231BCKDHAc.1186C>T (p.Gln396Ter)
c.1195C>T (p.Gln399Ter)
c.1288C>T (p.Gln430Ter)
c.62-46C>T
c.922+1759C>T (n.922+1759C>T)
c.1183C>T (p.Gln395Ter)
19g.41424457A>CCA406015232BCKDHAc.1187A>C (p.Gln396Pro)
c.1196A>C (p.Gln399Pro)
c.1289A>C (p.Gln430Pro)
c.62-45A>C
c.922+1760A>C (n.922+1760A>C)
c.1184A>C (p.Gln395Pro)
 gnomAD v4
19g.41424457A>GCA406015234BCKDHAc.1187A>G (p.Gln396Arg)
c.1196A>G (p.Gln399Arg)
c.1289A>G (p.Gln430Arg)
c.62-45A>G
c.922+1760A>G (n.922+1760A>G)
c.1184A>G (p.Gln395Arg)
 gnomAD v4
19g.41424457A>TCA406015236BCKDHAc.1187A>T (p.Gln396Leu)
c.1196A>T (p.Gln399Leu)
c.1289A>T (p.Gln430Leu)
c.62-45A>T
c.922+1760A>T (n.922+1760A>T)
c.1184A>T (p.Gln395Leu)
19g.41424458G>ACA507560655BCKDHAc.1188G>A (p.Gln396=)
c.1197G>A (p.Gln399=)
c.1290G>A (p.Gln430=)
c.62-44G>A
c.922+1761G>A (n.922+1761G>A)
c.1185G>A (p.Gln395=)
19g.41424458G>CCA406015237BCKDHAc.1188G>C (p.Gln396His)
c.1197G>C (p.Gln399His)
c.1290G>C (p.Gln430His)
c.62-44G>C
c.922+1761G>C (n.922+1761G>C)
c.1185G>C (p.Gln395His)
19g.41424458G>TCA406015238BCKDHAc.1188G>T (p.Gln396His)
c.1197G>T (p.Gln399His)
c.1290G>T (p.Gln430His)
c.62-44G>T
c.922+1761G>T (n.922+1761G>T)
c.1185G>T (p.Gln395His)
19g.41424459G>ACA9461399BCKDHAc.1189G>A (p.Ala397Thr)
c.1198G>A (p.Ala400Thr)
c.1291G>A (p.Ala431Thr)
c.62-43G>A
c.922+1762G>A (n.922+1762G>A)
c.1186G>A (p.Ala396Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424459G>CCA406015242BCKDHAc.1189G>C (p.Ala397Pro)
c.1198G>C (p.Ala400Pro)
c.1291G>C (p.Ala431Pro)
c.62-43G>C
c.922+1762G>C (n.922+1762G>C)
c.1186G>C (p.Ala396Pro)
19g.41424459G=CA2336460026BCKDHAc.1189G= (p.Ala397=)
c.1198G= (p.Ala400=)
c.1291G= (p.Ala431=)
c.62-43G=
c.922+1762G= (n.922+1762G=)
c.1186G= (p.Ala396=)
19g.41424459G>TCA406015244BCKDHAc.1189G>T (p.Ala397Ser)
c.1198G>T (p.Ala400Ser)
c.1291G>T (p.Ala431Ser)
c.62-43G>T
c.922+1762G>T (n.922+1762G>T)
c.1186G>T (p.Ala396Ser)
19g.41424460C>ACA406015247BCKDHAc.1190C>A (p.Ala397Asp)
c.1199C>A (p.Ala400Asp)
c.1292C>A (p.Ala431Asp)
c.62-42C>A
c.922+1763C>A (n.922+1763C>A)
c.1187C>A (p.Ala396Asp)
19g.41424460C>GCA406015248BCKDHAc.1190C>G (p.Ala397Gly)
c.1199C>G (p.Ala400Gly)
c.1292C>G (p.Ala431Gly)
c.62-42C>G
c.922+1763C>G (n.922+1763C>G)
c.1187C>G (p.Ala396Gly)
19g.41424460C>TCA406015250BCKDHAc.1190C>T (p.Ala397Val)
c.1199C>T (p.Ala400Val)
c.1292C>T (p.Ala431Val)
c.62-42C>T
c.922+1763C>T (n.922+1763C>T)
c.1187C>T (p.Ala396Val)
19g.41424461C>ACA507560657BCKDHAc.1191C>A (p.Ala397=)
c.1200C>A (p.Ala400=)
c.1293C>A (p.Ala431=)
c.62-41C>A
c.922+1764C>A (n.922+1764C>A)
c.1188C>A (p.Ala396=)
 gnomAD v4
19g.41424461C=CA2336460027BCKDHAc.1191C= (p.Ala397=)
c.1200C= (p.Ala400=)
c.1293C= (p.Ala431=)
c.62-41C=
c.922+1764C= (n.922+1764C=)
c.1188C= (p.Ala396=)
19g.41424461C>GCA507560656BCKDHAc.1191C>G (p.Ala397=)
c.1200C>G (p.Ala400=)
c.1293C>G (p.Ala431=)
c.62-41C>G
c.922+1764C>G (n.922+1764C>G)
c.1188C>G (p.Ala396=)
 dbSNP
19g.41424461C>TCA9461400BCKDHAc.1191C>T (p.Ala397=)
c.1200C>T (p.Ala400=)
c.1293C>T (p.Ala431=)
c.62-41C>T
c.922+1764C>T (n.922+1764C>T)
c.1188C>T (p.Ala396=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424462G>ACA9461401BCKDHAc.1192G>A (p.Glu398Lys)
c.1201G>A (p.Glu401Lys)
c.1294G>A (p.Glu432Lys)
c.62-40G>A
c.922+1765G>A (n.922+1765G>A)
c.1189G>A (p.Glu397Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424462G>CCA406015255BCKDHAc.1192G>C (p.Glu398Gln)
c.1201G>C (p.Glu401Gln)
c.1294G>C (p.Glu432Gln)
c.62-40G>C
c.922+1765G>C (n.922+1765G>C)
c.1189G>C (p.Glu397Gln)
19g.41424462G=CA2336460028BCKDHAc.1192G= (p.Glu398=)
c.1201G= (p.Glu401=)
c.1294G= (p.Glu432=)
c.62-40G=
c.922+1765G= (n.922+1765G=)
c.1189G= (p.Glu397=)
19g.41424462G>TCA406015257BCKDHAc.1192G>T (p.Glu398Ter)
c.1201G>T (p.Glu401Ter)
c.1294G>T (p.Glu432Ter)
c.62-40G>T
c.922+1765G>T (n.922+1765G>T)
c.1189G>T (p.Glu397Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41424463A=CA2336460029BCKDHAc.1193A= (p.Glu398=)
c.1202A= (p.Glu401=)
c.1295A= (p.Glu432=)
c.62-39A=
c.922+1766A= (n.922+1766A=)
c.1190A= (p.Glu397=)
19g.41424463A>CCA406015259BCKDHAc.1193A>C (p.Glu398Ala)
c.1202A>C (p.Glu401Ala)
c.1295A>C (p.Glu432Ala)
c.62-39A>C
c.922+1766A>C (n.922+1766A>C)
c.1190A>C (p.Glu397Ala)
19g.41424463A>GCA406015261BCKDHAc.1193A>G (p.Glu398Gly)
c.1202A>G (p.Glu401Gly)
c.1295A>G (p.Glu432Gly)
c.62-39A>G
c.922+1766A>G (n.922+1766A>G)
c.1190A>G (p.Glu397Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.41424463A>TCA406015262BCKDHAc.1193A>T (p.Glu398Val)
c.1202A>T (p.Glu401Val)
c.1295A>T (p.Glu432Val)
c.62-39A>T
c.922+1766A>T (n.922+1766A>T)
c.1190A>T (p.Glu397Val)
19g.41424464G>ACA507560658BCKDHAc.1194G>A (p.Glu398=)
c.1203G>A (p.Glu401=)
c.1296G>A (p.Glu432=)
c.62-38G>A
c.922+1767G>A (n.922+1767G>A)
c.1191G>A (p.Glu397=)
 ClinVar gnomAD v4
19g.41424464G>CCA406015264BCKDHAc.1194G>C (p.Glu398Asp)
c.1203G>C (p.Glu401Asp)
c.1296G>C (p.Glu432Asp)
c.62-38G>C
c.922+1767G>C (n.922+1767G>C)
c.1191G>C (p.Glu397Asp)
 gnomAD v4
19g.41424464G>TCA406015266BCKDHAc.1194G>T (p.Glu398Asp)
c.1203G>T (p.Glu401Asp)
c.1296G>T (p.Glu432Asp)
c.62-38G>T
c.922+1767G>T (n.922+1767G>T)
c.1191G>T (p.Glu397Asp)
 gnomAD v4 COSMIC
19g.41424465C>ACA507560659BCKDHAc.1195C>A (p.Arg399=)
c.1204C>A (p.Arg402=)
c.1297C>A (p.Arg433=)
c.62-37C>A
c.922+1768C>A (n.922+1768C>A)
c.1192C>A (p.Arg398=)
19g.41424465C=CA2336460030BCKDHAc.1195C= (p.Arg399=)
c.1204C= (p.Arg402=)
c.1297C= (p.Arg433=)
c.62-37C=
c.922+1768C= (n.922+1768C=)
c.1192C= (p.Arg398=)
19g.41424465C>GCA406015268BCKDHAc.1195C>G (p.Arg399Gly)
c.1204C>G (p.Arg402Gly)
c.1297C>G (p.Arg433Gly)
c.62-37C>G
c.922+1768C>G (n.922+1768C>G)
c.1192C>G (p.Arg398Gly)
19g.41424465C>TCA9461402BCKDHAc.1195C>T (p.Arg399Trp)
c.1204C>T (p.Arg402Trp)
c.1297C>T (p.Arg433Trp)
c.62-37C>T
c.922+1768C>T (n.922+1768C>T)
c.1192C>T (p.Arg398Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424466G>ACA9461403BCKDHAc.1196G>A (p.Arg399Gln)
c.1205G>A (p.Arg402Gln)
c.1298G>A (p.Arg433Gln)
c.62-36G>A
c.922+1769G>A (n.922+1769G>A)
c.1193G>A (p.Arg398Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424466G>CCA406015272BCKDHAc.1196G>C (p.Arg399Pro)
c.1205G>C (p.Arg402Pro)
c.1298G>C (p.Arg433Pro)
c.62-36G>C
c.922+1769G>C (n.922+1769G>C)
c.1193G>C (p.Arg398Pro)
19g.41424466G=CA2336460031BCKDHAc.1196G= (p.Arg399=)
c.1205G= (p.Arg402=)
c.1298G= (p.Arg433=)
c.62-36G=
c.922+1769G= (n.922+1769G=)
c.1193G= (p.Arg398=)
19g.41424466G>TCA406015274BCKDHAc.1196G>T (p.Arg399Leu)
c.1205G>T (p.Arg402Leu)
c.1298G>T (p.Arg433Leu)
c.62-36G>T
c.922+1769G>T (n.922+1769G>T)
c.1193G>T (p.Arg398Leu)
19g.41424467G>ACA507560660BCKDHAc.1197G>A (p.Arg399=)
c.1206G>A (p.Arg402=)
c.1299G>A (p.Arg433=)
c.62-35G>A
c.922+1770G>A (n.922+1770G>A)
c.1194G>A (p.Arg398=)
 gnomAD v4
19g.41424467G>CCA507560661BCKDHAc.1197G>C (p.Arg399=)
c.1206G>C (p.Arg402=)
c.1299G>C (p.Arg433=)
c.62-35G>C
c.922+1770G>C (n.922+1770G>C)
c.1194G>C (p.Arg398=)
 ClinVar dbSNP
19g.41424467G>TCA507560662BCKDHAc.1197G>T (p.Arg399=)
c.1206G>T (p.Arg402=)
c.1299G>T (p.Arg433=)
c.62-35G>T
c.922+1770G>T (n.922+1770G>T)
c.1194G>T (p.Arg398=)
19g.41424468A=CA2336460032BCKDHAc.1198A= (p.Lys400=)
c.1207A= (p.Lys403=)
c.1300A= (p.Lys434=)
c.62-34A=
c.922+1771A= (n.922+1771A=)
c.1195A= (p.Lys399=)
19g.41424468A>CCA406015275BCKDHAc.1198A>C (p.Lys400Gln)
c.1207A>C (p.Lys403Gln)
c.1300A>C (p.Lys434Gln)
c.62-34A>C
c.922+1771A>C (n.922+1771A>C)
c.1195A>C (p.Lys399Gln)
19g.41424468A>GCA406015277BCKDHAc.1198A>G (p.Lys400Glu)
c.1207A>G (p.Lys403Glu)
c.1300A>G (p.Lys434Glu)
c.62-34A>G
c.922+1771A>G (n.922+1771A>G)
c.1195A>G (p.Lys399Glu)
 gnomAD v4
19g.41424468A>TCA279886BCKDHAc.1198A>T (p.Lys400Ter)
c.1207A>T (p.Lys403Ter)
c.1300A>T (p.Lys434Ter)
c.62-34A>T
c.922+1771A>T (n.922+1771A>T)
c.1195A>T (p.Lys399Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424469delCA2695228769BCKDHAc.1199del (p.Lys400SerfsTer?)
c.1208del (p.Lys403SerfsTer?)
c.1301del (p.Lys434SerfsTer?)
c.62-33del
c.922+1772del (n.922+1772del)
c.1196del (p.Lys399SerfsTer?)
19g.41424469A>CCA406015279BCKDHAc.1199A>C (p.Lys400Thr)
c.1208A>C (p.Lys403Thr)
c.1301A>C (p.Lys434Thr)
c.62-33A>C
c.922+1772A>C (n.922+1772A>C)
c.1196A>C (p.Lys399Thr)
19g.41424469A>GCA406015281BCKDHAc.1199A>G (p.Lys400Arg)
c.1208A>G (p.Lys403Arg)
c.1301A>G (p.Lys434Arg)
c.62-33A>G
c.922+1772A>G (n.922+1772A>G)
c.1196A>G (p.Lys399Arg)
19g.41424469A>TCA406015282BCKDHAc.1199A>T (p.Lys400Met)
c.1208A>T (p.Lys403Met)
c.1301A>T (p.Lys434Met)
c.62-33A>T
c.922+1772A>T (n.922+1772A>T)
c.1196A>T (p.Lys399Met)
19g.41424470G>ACA507560663BCKDHAc.1200G>A (p.Lys400=)
c.1209G>A (p.Lys403=)
c.1302G>A (p.Lys434=)
c.62-32G>A
c.922+1773G>A (n.922+1773G>A)
c.1197G>A (p.Lys399=)
19g.41424470G>CCA406015283BCKDHAc.1200G>C (p.Lys400Asn)
c.1209G>C (p.Lys403Asn)
c.1302G>C (p.Lys434Asn)
c.62-32G>C
c.922+1773G>C (n.922+1773G>C)
c.1197G>C (p.Lys399Asn)
19g.41424470G>TCA406015284BCKDHAc.1200G>T (p.Lys400Asn)
c.1209G>T (p.Lys403Asn)
c.1302G>T (p.Lys434Asn)
c.62-32G>T
c.922+1773G>T (n.922+1773G>T)
c.1197G>T (p.Lys399Asn)
19g.41424471C>ACA406015286BCKDHAc.1201C>A (p.Pro401Thr)
c.1210C>A (p.Pro404Thr)
c.1303C>A (p.Pro435Thr)
c.62-31C>A
c.922+1774C>A (n.922+1774C>A)
c.1198C>A (p.Pro400Thr)
19g.41424471C>GCA406015288BCKDHAc.1201C>G (p.Pro401Ala)
c.1210C>G (p.Pro404Ala)
c.1303C>G (p.Pro435Ala)
c.62-31C>G
c.922+1774C>G (n.922+1774C>G)
c.1198C>G (p.Pro400Ala)
19g.41424471C>TCA406015290BCKDHAc.1201C>T (p.Pro401Ser)
c.1210C>T (p.Pro404Ser)
c.1303C>T (p.Pro435Ser)
c.62-31C>T
c.922+1774C>T (n.922+1774C>T)
c.1198C>T (p.Pro400Ser)
19g.41424476_41424481dupCA2695228770BCKDHAc.1206_1211dup (p.Pro403_Asn404insLysPro)
c.1215_1220dup (p.Pro406_Asn407insLysPro)
c.1308_1313dup (p.Pro437_Asn438insLysPro)
c.62-26_62-21dup
c.922+1779_922+1784dup (n.922+1779_922+1784dup)
c.1203_1208dup (p.Pro402_Asn403insLysPro)
19g.41424472C>ACA406015292BCKDHAc.1202C>A (p.Pro401His)
c.1211C>A (p.Pro404His)
c.1304C>A (p.Pro435His)
c.62-30C>A
c.922+1775C>A (n.922+1775C>A)
c.1199C>A (p.Pro400His)
19g.41424472C=CA2336460033BCKDHAc.1202C= (p.Pro401=)
c.1211C= (p.Pro404=)
c.1304C= (p.Pro435=)
c.62-30C=
c.922+1775C= (n.922+1775C=)
c.1199C= (p.Pro400=)
19g.41424472C>GCA406015294BCKDHAc.1202C>G (p.Pro401Arg)
c.1211C>G (p.Pro404Arg)
c.1304C>G (p.Pro435Arg)
c.62-30C>G
c.922+1775C>G (n.922+1775C>G)
c.1199C>G (p.Pro400Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41424472C>TCA9461404BCKDHAc.1202C>T (p.Pro401Leu)
c.1211C>T (p.Pro404Leu)
c.1304C>T (p.Pro435Leu)
c.62-30C>T
c.922+1775C>T (n.922+1775C>T)
c.1199C>T (p.Pro400Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41424473C>ACA507560664BCKDHAc.1203C>A (p.Pro401=)
c.1212C>A (p.Pro404=)
c.1305C>A (p.Pro435=)
c.62-29C>A
c.922+1776C>A (n.922+1776C>A)
c.1200C>A (p.Pro400=)
19g.41424473C>GCA507560665BCKDHAc.1203C>G (p.Pro401=)
c.1212C>G (p.Pro404=)
c.1305C>G (p.Pro435=)
c.62-29C>G
c.922+1776C>G (n.922+1776C>G)
c.1200C>G (p.Pro400=)
 ClinVar dbSNP
19g.41424473C>TCA507560666BCKDHAc.1203C>T (p.Pro401=)
c.1212C>T (p.Pro404=)
c.1305C>T (p.Pro435=)
c.62-29C>T
c.922+1776C>T (n.922+1776C>T)
c.1200C>T (p.Pro400=)
19g.41424474A>CCA406015301BCKDHAc.1204A>C (p.Lys402Gln)
c.1213A>C (p.Lys405Gln)
c.1306A>C (p.Lys436Gln)
c.62-28A>C
c.922+1777A>C (n.922+1777A>C)
c.1201A>C (p.Lys401Gln)
19g.41424474A>GCA406015299BCKDHAc.1204A>G (p.Lys402Glu)
c.1213A>G (p.Lys405Glu)
c.1306A>G (p.Lys436Glu)
c.62-28A>G
c.922+1777A>G (n.922+1777A>G)
c.1201A>G (p.Lys401Glu)
19g.41424474A>TCA406015298BCKDHAc.1204A>T (p.Lys402Ter)
c.1213A>T (p.Lys405Ter)
c.1306A>T (p.Lys436Ter)
c.62-28A>T
c.922+1777A>T (n.922+1777A>T)
c.1201A>T (p.Lys401Ter)
19g.41424475A>CCA406015304BCKDHAc.1205A>C (p.Lys402Thr)
c.1214A>C (p.Lys405Thr)
c.1307A>C (p.Lys436Thr)
c.62-27A>C
c.922+1778A>C (n.922+1778A>C)
c.1202A>C (p.Lys401Thr)
19g.41424475A>GCA406015305BCKDHAc.1205A>G (p.Lys402Arg)
c.1214A>G (p.Lys405Arg)
c.1307A>G (p.Lys436Arg)
c.62-27A>G
c.922+1778A>G (n.922+1778A>G)
c.1202A>G (p.Lys401Arg)
19g.41424475A>TCA406015307BCKDHAc.1205A>T (p.Lys402Ile)
c.1214A>T (p.Lys405Ile)
c.1307A>T (p.Lys436Ile)
c.62-27A>T
c.922+1778A>T (n.922+1778A>T)
c.1202A>T (p.Lys401Ile)
19g.41424476A>CCA406015310BCKDHAc.1206A>C (p.Lys402Asn)
c.1215A>C (p.Lys405Asn)
c.1308A>C (p.Lys436Asn)
c.62-26A>C
c.922+1779A>C (n.922+1779A>C)
c.1203A>C (p.Lys401Asn)
19g.41424476A>GCA507560667BCKDHAc.1206A>G (p.Lys402=)
c.1215A>G (p.Lys405=)
c.1308A>G (p.Lys436=)
c.62-26A>G
c.922+1779A>G (n.922+1779A>G)
c.1203A>G (p.Lys401=)
19g.41424476A>TCA406015311BCKDHAc.1206A>T (p.Lys402Asn)
c.1215A>T (p.Lys405Asn)
c.1308A>T (p.Lys436Asn)
c.62-26A>T
c.922+1779A>T (n.922+1779A>T)
c.1203A>T (p.Lys401Asn)
19g.41424477C>ACA406015314BCKDHAc.1207C>A (p.Pro403Thr)
c.1216C>A (p.Pro406Thr)
c.1309C>A (p.Pro437Thr)
c.62-25C>A
c.922+1780C>A (n.922+1780C>A)
c.1204C>A (p.Pro402Thr)
19g.41424477C>GCA406015315BCKDHAc.1207C>G (p.Pro403Ala)
c.1216C>G (p.Pro406Ala)
c.1309C>G (p.Pro437Ala)
c.62-25C>G
c.922+1780C>G (n.922+1780C>G)
c.1204C>G (p.Pro402Ala)
 gnomAD v4
19g.41424477C>TCA406015317BCKDHAc.1207C>T (p.Pro403Ser)
c.1216C>T (p.Pro406Ser)
c.1309C>T (p.Pro437Ser)
c.62-25C>T
c.922+1780C>T (n.922+1780C>T)
c.1204C>T (p.Pro402Ser)
19g.41424479delCA2735930073BCKDHAc.1209del (p.Asn404ThrfsTer?)
c.1218del (p.Asn407ThrfsTer?)
c.1311del (p.Asn438ThrfsTer?)
c.62-23del
c.922+1782del (n.922+1782del)
c.1206del (p.Asn403ThrfsTer?)
 dbSNP
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.41424478C>ACA406015320BCKDHAc.1208C>A (p.Pro403His)
c.1217C>A (p.Pro406His)
c.1310C>A (p.Pro437His)
c.62-24C>A
c.922+1781C>A (n.922+1781C>A)
c.1205C>A (p.Pro402His)
19g.41424478C=CA2336460034BCKDHAc.1208C= (p.Pro403=)
c.1217C= (p.Pro406=)
c.1310C= (p.Pro437=)
c.62-24C=
c.922+1781C= (n.922+1781C=)
c.1205C= (p.Pro402=)
19g.41424478C>GCA9461405BCKDHAc.1208C>G (p.Pro403Arg)
c.1217C>G (p.Pro406Arg)
c.1310C>G (p.Pro437Arg)
c.62-24C>G
c.922+1781C>G (n.922+1781C>G)
c.1205C>G (p.Pro402Arg)
 dbSNP ExAC gnomAD v2
19g.41424478C>TCA406015322BCKDHAc.1208C>T (p.Pro403Leu)
c.1217C>T (p.Pro406Leu)
c.1310C>T (p.Pro437Leu)
c.62-24C>T
c.922+1781C>T (n.922+1781C>T)
c.1205C>T (p.Pro402Leu)
 dbSNP
19g.41424479C>ACA507560668BCKDHAc.1209C>A (p.Pro403=)
c.1218C>A (p.Pro406=)
c.1311C>A (p.Pro437=)
c.62-23C>A
c.922+1782C>A (n.922+1782C>A)
c.1206C>A (p.Pro402=)
19g.41424479C=CA2336460035BCKDHAc.1209C= (p.Pro403=)
c.1218C= (p.Pro406=)
c.1311C= (p.Pro437=)
c.62-23C=
c.922+1782C= (n.922+1782C=)
c.1206C= (p.Pro402=)
19g.41424479C>GCA507560669BCKDHAc.1209C>G (p.Pro403=)
c.1218C>G (p.Pro406=)
c.1311C>G (p.Pro437=)
c.62-23C>G
c.922+1782C>G (n.922+1782C>G)
c.1206C>G (p.Pro402=)
 ClinVar gnomAD v4
19g.41424479C>TCA308527909BCKDHAc.1209C>T (p.Pro403=)
c.1218C>T (p.Pro406=)
c.1311C>T (p.Pro437=)
c.62-23C>T
c.922+1782C>T (n.922+1782C>T)
c.1206C>T (p.Pro402=)
 dbSNP gnomAD v2 gnomAD v4
19g.41424480A=CA2336460036BCKDHAc.1210A= (p.Asn404=)
c.1219A= (p.Asn407=)
c.1312A= (p.Asn438=)
c.62-22A=
c.922+1783A= (n.922+1783A=)
c.1207A= (p.Asn403=)
19g.41424480A>CCA406015328BCKDHAc.1210A>C (p.Asn404His)
c.1219A>C (p.Asn407His)
c.1312A>C (p.Asn438His)
c.62-22A>C
c.922+1783A>C (n.922+1783A>C)
c.1207A>C (p.Asn403His)
19g.41424480A>GCA406015330BCKDHAc.1210A>G (p.Asn404Asp)
c.1219A>G (p.Asn407Asp)
c.1312A>G (p.Asn438Asp)
c.62-22A>G
c.922+1783A>G (n.922+1783A>G)
c.1207A>G (p.Asn403Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.41424480A>TCA406015326BCKDHAc.1210A>T (p.Asn404Tyr)
c.1219A>T (p.Asn407Tyr)
c.1312A>T (p.Asn438Tyr)
c.62-22A>T
c.922+1783A>T (n.922+1783A>T)
c.1207A>T (p.Asn403Tyr)
19g.41424481A=CA2336460037BCKDHAc.1211A= (p.Asn404=)
c.1220A= (p.Asn407=)
c.1313A= (p.Asn438=)
c.62-21A=
c.922+1784A= (n.922+1784A=)
c.1208A= (p.Asn403=)
19g.41424481A>CCA406015335BCKDHAc.1211A>C (p.Asn404Thr)
c.1220A>C (p.Asn407Thr)
c.1313A>C (p.Asn438Thr)
c.62-21A>C
c.922+1784A>C (n.922+1784A>C)
c.1208A>C (p.Asn403Thr)
19g.41424481A>GCA9461406BCKDHAc.1211A>G (p.Asn404Ser)
c.1220A>G (p.Asn407Ser)
c.1313A>G (p.Asn438Ser)
c.62-21A>G
c.922+1784A>G (n.922+1784A>G)
c.1208A>G (p.Asn403Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41424481A>TCA406015333BCKDHAc.1211A>T (p.Asn404Ile)
c.1220A>T (p.Asn407Ile)
c.1313A>T (p.Asn438Ile)
c.62-21A>T
c.922+1784A>T (n.922+1784A>T)
c.1208A>T (p.Asn403Ile)
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)
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
19g.41424505T>GCA406015391BCKDHAc.1235T>G (p.Val412Gly)
c.1244T>G (p.Val415Gly)
c.1337T>G (p.Val446Gly)
c.65T>G
c.922+1808T>G (n.922+1808T>G)
c.1232T>G (p.Val411Gly)
19g.41424506G>ACA507560683BCKDHAc.1236G>A (p.Val412=)
c.1245G>A (p.Val415=)
c.1338G>A (p.Val446=)
c.66G>A
c.922+1809G>A (n.922+1809G>A)
c.1233G>A (p.Val411=)
19g.41424506G>CCA507560684BCKDHAc.1236G>C (p.Val412=)
c.1245G>C (p.Val415=)
c.1338G>C (p.Val446=)
c.66G>C
c.922+1809G>C (n.922+1809G>C)
c.1233G>C (p.Val411=)
 ClinVar dbSNP
19g.41424506G>TCA507560685BCKDHAc.1236G>T (p.Val412=)
c.1245G>T (p.Val415=)
c.1338G>T (p.Val446=)
c.66G>T
c.922+1809G>T (n.922+1809G>T)
c.1233G>T (p.Val411=)
19g.41424507T>ACA406015393BCKDHAc.1237T>A (p.Tyr413Asn)
c.1246T>A (p.Tyr416Asn)
c.1339T>A (p.Tyr447Asn)
c.67T>A
c.922+1810T>A (n.922+1810T>A)
c.1234T>A (p.Tyr412Asn)
19g.41424507T>CCA406015394BCKDHAc.1237T>C (p.Tyr413His)
c.1246T>C (p.Tyr416His)
c.1339T>C (p.Tyr447His)
c.67T>C
c.922+1810T>C (n.922+1810T>C)
c.1234T>C (p.Tyr412His)
19g.41424507T>GCA406015392BCKDHAc.1237T>G (p.Tyr413Asp)
c.1246T>G (p.Tyr416Asp)
c.1339T>G (p.Tyr447Asp)
c.67T>G
c.922+1810T>G (n.922+1810T>G)
c.1234T>G (p.Tyr412Asp)
19g.41424507dupCA2585308447BCKDHAc.1237dup (p.Tyr413LeufsTer?)
c.1246dup (p.Tyr416LeufsTer?)
c.1339dup (p.Tyr447LeufsTer?)
c.67dup
c.922+1810dup (n.922+1810dup)
c.1234dup (p.Tyr412LeufsTer?)
 ClinVar gnomAD v4
19g.41424508A>CCA406015396BCKDHAc.1238A>C (p.Tyr413Ser)
c.1247A>C (p.Tyr416Ser)
c.1340A>C (p.Tyr447Ser)
c.68A>C
c.922+1811A>C (n.922+1811A>C)
c.1235A>C (p.Tyr412Ser)
19g.41424508A>GCA406015395BCKDHAc.1238A>G (p.Tyr413Cys)
c.1247A>G (p.Tyr416Cys)
c.1340A>G (p.Tyr447Cys)
c.68A>G
c.922+1811A>G (n.922+1811A>G)
c.1235A>G (p.Tyr412Cys)
 ClinVar gnomAD v4
19g.41424508A>TCA406015397BCKDHAc.1238A>T (p.Tyr413Phe)
c.1247A>T (p.Tyr416Phe)
c.1340A>T (p.Tyr447Phe)
c.68A>T
c.922+1811A>T (n.922+1811A>T)
c.1235A>T (p.Tyr412Phe)
 gnomAD v4
19g.41424509T>ACA406015398BCKDHAc.1239T>A (p.Tyr413Ter)
c.1248T>A (p.Tyr416Ter)
c.1341T>A (p.Tyr447Ter)
c.69T>A
c.922+1812T>A (n.922+1812T>A)
c.1236T>A (p.Tyr412Ter)
19g.41424509T>CCA507560686BCKDHAc.1239T>C (p.Tyr413=)
c.1248T>C (p.Tyr416=)
c.1341T>C (p.Tyr447=)
c.69T>C
c.922+1812T>C (n.922+1812T>C)
c.1236T>C (p.Tyr412=)
19g.41424509T>GCA406015399BCKDHAc.1239T>G (p.Tyr413Ter)
c.1248T>G (p.Tyr416Ter)
c.1341T>G (p.Tyr447Ter)
c.69T>G
c.922+1812T>G (n.922+1812T>G)
c.1236T>G (p.Tyr412Ter)
 COSMIC
19g.41424510C>ACA406015400BCKDHAc.1240C>A (p.Gln414Lys)
c.1249C>A (p.Gln417Lys)
c.1342C>A (p.Gln448Lys)
c.70C>A
c.922+1813C>A (n.922+1813C>A)
c.1237C>A (p.Gln413Lys)
19g.41424510C>GCA406015401BCKDHAc.1240C>G (p.Gln414Glu)
c.1249C>G (p.Gln417Glu)
c.1342C>G (p.Gln448Glu)
c.70C>G
c.922+1813C>G (n.922+1813C>G)
c.1237C>G (p.Gln413Glu)
19g.41424510C>TCA406015402BCKDHAc.1240C>T (p.Gln414Ter)
c.1249C>T (p.Gln417Ter)
c.1342C>T (p.Gln448Ter)
c.70C>T
c.922+1813C>T (n.922+1813C>T)
c.1237C>T (p.Gln413Ter)
19g.41424511A=CA2336460050BCKDHAc.1241A= (p.Gln414=)
c.1250A= (p.Gln417=)
c.1343A= (p.Gln448=)
c.71A=
c.922+1814A= (n.922+1814A=)
c.1238A= (p.Gln413=)
19g.41424511A>CCA9461411BCKDHAc.1241A>C (p.Gln414Pro)
c.1250A>C (p.Gln417Pro)
c.1343A>C (p.Gln448Pro)
c.71A>C
c.922+1814A>C (n.922+1814A>C)
c.1238A>C (p.Gln413Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41424511A>GCA406015403BCKDHAc.1241A>G (p.Gln414Arg)
c.1250A>G (p.Gln417Arg)
c.1343A>G (p.Gln448Arg)
c.71A>G
c.922+1814A>G (n.922+1814A>G)
c.1238A>G (p.Gln413Arg)
 gnomAD v4
19g.41424511A>TCA406015404BCKDHAc.1241A>T (p.Gln414Leu)
c.1250A>T (p.Gln417Leu)
c.1343A>T (p.Gln448Leu)
c.71A>T
c.922+1814A>T (n.922+1814A>T)
c.1238A>T (p.Gln413Leu)
19g.41424512G>ACA507560688BCKDHAc.1242G>A (p.Gln414=)
c.1251G>A (p.Gln417=)
c.1344G>A (p.Gln448=)
c.72G>A
c.922+1815G>A (n.922+1815G>A)
c.1239G>A (p.Gln413=)
19g.41424512G>CCA406015405BCKDHAc.1242G>C (p.Gln414His)
c.1251G>C (p.Gln417His)
c.1344G>C (p.Gln448His)
c.72G>C
c.922+1815G>C (n.922+1815G>C)
c.1239G>C (p.Gln413His)
19g.41424512G>TCA406015406BCKDHAc.1242G>T (p.Gln414His)
c.1251G>T (p.Gln417His)
c.1344G>T (p.Gln448His)
c.72G>T
c.922+1815G>T (n.922+1815G>T)
c.1239G>T (p.Gln413His)
19g.41424513G>ACA9461412BCKDHAc.1243G>A (p.Glu415Lys)
c.1252G>A (p.Glu418Lys)
c.1345G>A (p.Glu449Lys)
c.73G>A
c.922+1816G>A (n.922+1816G>A)
c.1240G>A (p.Glu414Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.41424513G>CCA406015407BCKDHAc.1243G>C (p.Glu415Gln)
c.1252G>C (p.Glu418Gln)
c.1345G>C (p.Glu449Gln)
c.73G>C
c.922+1816G>C (n.922+1816G>C)
c.1240G>C (p.Glu414Gln)
19g.41424513G=CA2336460051BCKDHAc.1243G= (p.Glu415=)
c.1252G= (p.Glu418=)
c.1345G= (p.Glu449=)
c.73G=
c.922+1816G= (n.922+1816G=)
c.1240G= (p.Glu414=)
19g.41424513G>TCA406015408BCKDHAc.1243G>T (p.Glu415Ter)
c.1252G>T (p.Glu418Ter)
c.1345G>T (p.Glu449Ter)
c.73G>T
c.922+1816G>T (n.922+1816G>T)
c.1240G>T (p.Glu414Ter)
19g.41424514A>CCA406015409BCKDHAc.1244A>C (p.Glu415Ala)
c.1253A>C (p.Glu418Ala)
c.1346A>C (p.Glu449Ala)
c.74A>C
c.922+1817A>C (n.922+1817A>C)
c.1241A>C (p.Glu414Ala)
19g.41424514A>GCA406015410BCKDHAc.1244A>G (p.Glu415Gly)
c.1253A>G (p.Glu418Gly)
c.1346A>G (p.Glu449Gly)
c.74A>G
c.922+1817A>G (n.922+1817A>G)
c.1241A>G (p.Glu414Gly)
19g.41424514A>TCA406015411BCKDHAc.1244A>T (p.Glu415Val)
c.1253A>T (p.Glu418Val)
c.1346A>T (p.Glu449Val)
c.74A>T
c.922+1817A>T (n.922+1817A>T)
c.1241A>T (p.Glu414Val)
 dbSNP
19g.41424515G>ACA507560689BCKDHAc.1245G>A (p.Glu415=)
c.1254G>A (p.Glu418=)
c.1347G>A (p.Glu449=)
c.75G>A
c.922+1818G>A (n.922+1818G>A)
c.1242G>A (p.Glu414=)
19g.41424515G>CCA406015412BCKDHAc.1245G>C (p.Glu415Asp)
c.1254G>C (p.Glu418Asp)
c.1347G>C (p.Glu449Asp)
c.75G>C
c.922+1818G>C (n.922+1818G>C)
c.1242G>C (p.Glu414Asp)
19g.41424515G>TCA406015413BCKDHAc.1245G>T (p.Glu415Asp)
c.1254G>T (p.Glu418Asp)
c.1347G>T (p.Glu449Asp)
c.75G>T
c.922+1818G>T (n.922+1818G>T)
c.1242G>T (p.Glu414Asp)

Number of alleles fetched