Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41422102_41422127del | CA2585307955 | BCKDHA | c.647-62_647-37del (n.647-62_647-37del) c.581-62_581-37del (n.581-62_581-37del) n.276-62_276-37del n.773-62_773-37del c.749-62_749-37del (n.749-62_749-37del) c.547-62_547-37del c.560-62_560-37del (n.560-62_560-37del) n.275-62_275-37del | gnomAD v4 |
19 | g.41422122G>A | CA633165499 | BCKDHA | c.647-42G>A (n.647-42G>A) c.581-42G>A (n.581-42G>A) n.276-42G>A n.773-42G>A c.749-42G>A (n.749-42G>A) c.547-42G>A c.560-42G>A (n.560-42G>A) n.275-42G>A | dbSNP gnomAD v2 |
19 | g.41422122G= | CA2336458955 | BCKDHA | c.647-42G= (n.647-42G=) c.581-42G= (n.581-42G=) n.276-42G= n.773-42G= c.749-42G= (n.749-42G=) c.547-42G= c.560-42G= (n.560-42G=) n.275-42G= | |
19 | g.41422123T>G | CA9461221 | BCKDHA | c.647-41T>G (n.647-41T>G) c.581-41T>G (n.581-41T>G) n.276-41T>G n.773-41T>G c.749-41T>G (n.749-41T>G) c.547-41T>G c.560-41T>G (n.560-41T>G) n.275-41T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422123T= | CA2336458956 | BCKDHA | c.647-41T= (n.647-41T=) c.581-41T= (n.581-41T=) n.276-41T= n.773-41T= c.749-41T= (n.749-41T=) c.547-41T= c.560-41T= (n.560-41T=) n.275-41T= | |
19 | g.41422125_41422126del | CA2585307979 | BCKDHA | c.647-39_647-38del (n.647-39_647-38del) c.581-39_581-38del (n.581-39_581-38del) n.276-39_276-38del n.773-39_773-38del c.749-39_749-38del (n.749-39_749-38del) c.547-39_547-38del c.560-39_560-38del (n.560-39_560-38del) n.275-39_275-38del | gnomAD v4 |
19 | g.41422125A= | CA2336458957 | BCKDHA | c.647-39A= (n.647-39A=) c.581-39A= (n.581-39A=) n.276-39A= n.773-39A= c.749-39A= (n.749-39A=) c.547-39A= c.560-39A= (n.560-39A=) n.275-39A= | |
19 | g.41422125A>T | CA882348955 | BCKDHA | c.647-39A>T (n.647-39A>T) c.581-39A>T (n.581-39A>T) n.276-39A>T n.773-39A>T c.749-39A>T (n.749-39A>T) c.547-39A>T c.560-39A>T (n.560-39A>T) n.275-39A>T | dbSNP |
19 | g.41422126G>A | CA995976362 | BCKDHA | c.647-38G>A (n.647-38G>A) c.581-38G>A (n.581-38G>A) n.276-38G>A n.773-38G>A c.749-38G>A (n.749-38G>A) c.547-38G>A c.560-38G>A (n.560-38G>A) n.275-38G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422126G= | CA2336458958 | BCKDHA | c.647-38G= (n.647-38G=) c.581-38G= (n.581-38G=) n.276-38G= n.773-38G= c.749-38G= (n.749-38G=) c.547-38G= c.560-38G= (n.560-38G=) n.275-38G= | |
19 | g.41422127T>C | CA2814427374 | BCKDHA | c.647-37T>C (n.647-37T>C) c.581-37T>C (n.581-37T>C) n.276-37T>C n.773-37T>C c.749-37T>C (n.749-37T>C) c.547-37T>C c.560-37T>C (n.560-37T>C) n.275-37T>C | |
19 | g.41422128C>A | CA2562674924 | BCKDHA | c.647-36C>A (n.647-36C>A) c.581-36C>A (n.581-36C>A) n.276-36C>A n.773-36C>A c.749-36C>A (n.749-36C>A) c.547-36C>A c.560-36C>A (n.560-36C>A) n.275-36C>A | gnomAD v4 |
19 | g.41422128C>G | CA2585307980 | BCKDHA | c.647-36C>G (n.647-36C>G) c.581-36C>G (n.581-36C>G) n.276-36C>G n.773-36C>G c.749-36C>G (n.749-36C>G) c.547-36C>G c.560-36C>G (n.560-36C>G) n.275-36C>G | gnomAD v4 |
19 | g.41422131C>A | CA2585307981 | BCKDHA | c.647-33C>A (n.647-33C>A) c.581-33C>A (n.581-33C>A) n.276-33C>A n.773-33C>A c.749-33C>A (n.749-33C>A) c.547-33C>A c.560-33C>A (n.560-33C>A) n.275-33C>A | gnomAD v4 |
19 | g.41422131C= | CA2336458959 | BCKDHA | c.647-33C= (n.647-33C=) c.581-33C= (n.581-33C=) n.276-33C= n.773-33C= c.749-33C= (n.749-33C=) c.547-33C= c.560-33C= (n.560-33C=) n.275-33C= | |
19 | g.41422131C>T | CA9461222 | BCKDHA | c.647-33C>T (n.647-33C>T) c.581-33C>T (n.581-33C>T) n.276-33C>T n.773-33C>T c.749-33C>T (n.749-33C>T) c.547-33C>T c.560-33C>T (n.560-33C>T) n.275-33C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422132G>A | CA9461223 | BCKDHA | c.647-32G>A (n.647-32G>A) c.581-32G>A (n.581-32G>A) n.276-32G>A n.773-32G>A c.749-32G>A (n.749-32G>A) c.547-32G>A c.560-32G>A (n.560-32G>A) n.275-32G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422132G= | CA2336458960 | BCKDHA | c.647-32G= (n.647-32G=) c.581-32G= (n.581-32G=) n.276-32G= n.773-32G= c.749-32G= (n.749-32G=) c.547-32G= c.560-32G= (n.560-32G=) n.275-32G= | |
19 | g.41422132G>T | CA2585307982 | BCKDHA | c.647-32G>T (n.647-32G>T) c.581-32G>T (n.581-32G>T) n.276-32G>T n.773-32G>T c.749-32G>T (n.749-32G>T) c.547-32G>T c.560-32G>T (n.560-32G>T) n.275-32G>T | gnomAD v4 |
19 | g.41422133C= | CA2336458961 | BCKDHA | c.647-31C= (n.647-31C=) c.581-31C= (n.581-31C=) n.276-31C= n.773-31C= c.749-31C= (n.749-31C=) c.547-31C= c.560-31C= (n.560-31C=) n.275-31C= | |
19 | g.41422133C>G | CA2585307983 | BCKDHA | c.647-31C>G (n.647-31C>G) c.581-31C>G (n.581-31C>G) n.276-31C>G n.773-31C>G c.749-31C>G (n.749-31C>G) c.547-31C>G c.560-31C>G (n.560-31C>G) n.275-31C>G | gnomAD v4 |
19 | g.41422133C>T | CA9461224 | BCKDHA | c.647-31C>T (n.647-31C>T) c.581-31C>T (n.581-31C>T) n.276-31C>T n.773-31C>T c.749-31C>T (n.749-31C>T) c.547-31C>T c.560-31C>T (n.560-31C>T) n.275-31C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422135C>A | CA2842010921 | BCKDHA | c.647-29C>A (n.647-29C>A) c.581-29C>A (n.581-29C>A) n.276-29C>A n.773-29C>A c.749-29C>A (n.749-29C>A) c.547-29C>A c.560-29C>A (n.560-29C>A) n.275-29C>A | |
19 | g.41422135C>G | CA2576793812 | BCKDHA | c.647-29C>G (n.647-29C>G) c.581-29C>G (n.581-29C>G) n.276-29C>G n.773-29C>G c.749-29C>G (n.749-29C>G) c.547-29C>G c.560-29C>G (n.560-29C>G) n.275-29C>G | gnomAD v4 |
19 | g.41422135C>T | CA2585307984 | BCKDHA | c.647-29C>T (n.647-29C>T) c.581-29C>T (n.581-29C>T) n.276-29C>T n.773-29C>T c.749-29C>T (n.749-29C>T) c.547-29C>T c.560-29C>T (n.560-29C>T) n.275-29C>T | gnomAD v4 |
19 | g.41422136C>A | CA2585307985 | BCKDHA | c.647-28C>A (n.647-28C>A) c.581-28C>A (n.581-28C>A) n.276-28C>A n.773-28C>A c.749-28C>A (n.749-28C>A) c.547-28C>A c.560-28C>A (n.560-28C>A) n.275-28C>A | gnomAD v4 |
19 | g.41422136C= | CA2336458962 | BCKDHA | c.647-28C= (n.647-28C=) c.581-28C= (n.581-28C=) n.276-28C= n.773-28C= c.749-28C= (n.749-28C=) c.547-28C= c.560-28C= (n.560-28C=) n.275-28C= | |
19 | g.41422136C>T | CA633470334 | BCKDHA | c.647-28C>T (n.647-28C>T) c.581-28C>T (n.581-28C>T) n.276-28C>T n.773-28C>T c.749-28C>T (n.749-28C>T) c.547-28C>T c.560-28C>T (n.560-28C>T) n.275-28C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422137del | CA2585307986 | BCKDHA | c.647-27del (n.647-27del) c.581-27del (n.581-27del) n.276-27del n.773-27del c.749-27del (n.749-27del) c.547-27del c.560-27del (n.560-27del) n.275-27del | gnomAD v4 |
19 | g.41422138G>T | CA657349420 | BCKDHA | c.647-26G>T (n.647-26G>T) c.581-26G>T (n.581-26G>T) n.276-26G>T n.773-26G>T c.749-26G>T (n.749-26G>T) c.547-26G>T c.560-26G>T (n.560-26G>T) n.275-26G>T | COSMIC |
19 | g.41422139C>A | CA2585307987 | BCKDHA | c.647-25C>A (n.647-25C>A) c.581-25C>A (n.581-25C>A) n.276-25C>A n.773-25C>A c.749-25C>A (n.749-25C>A) c.547-25C>A c.560-25C>A (n.560-25C>A) n.275-25C>A | gnomAD v4 |
19 | g.41422139C= | CA2336458963 | BCKDHA | c.647-25C= (n.647-25C=) c.581-25C= (n.581-25C=) n.276-25C= n.773-25C= c.749-25C= (n.749-25C=) c.547-25C= c.560-25C= (n.560-25C=) n.275-25C= | |
19 | g.41422139C>T | CA9461225 | BCKDHA | c.647-25C>T (n.647-25C>T) c.581-25C>T (n.581-25C>T) n.276-25C>T n.773-25C>T c.749-25C>T (n.749-25C>T) c.547-25C>T c.560-25C>T (n.560-25C>T) n.275-25C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422140T>A | CA2585307988 | BCKDHA | c.647-24T>A (n.647-24T>A) c.581-24T>A (n.581-24T>A) n.276-24T>A n.773-24T>A c.749-24T>A (n.749-24T>A) c.547-24T>A c.560-24T>A (n.560-24T>A) n.275-24T>A | gnomAD v4 |
19 | g.41422141C>A | CA2585307989 | BCKDHA | c.647-23C>A (n.647-23C>A) c.581-23C>A (n.581-23C>A) n.276-23C>A n.773-23C>A c.749-23C>A (n.749-23C>A) c.547-23C>A c.560-23C>A (n.560-23C>A) n.275-23C>A | gnomAD v4 |
19 | g.41422142A= | CA2336458964 | BCKDHA | c.647-22A= (n.647-22A=) c.581-22A= (n.581-22A=) n.276-22A= n.773-22A= c.749-22A= (n.749-22A=) c.547-22A= c.560-22A= (n.560-22A=) n.275-22A= | |
19 | g.41422142A>G | CA633470335 | BCKDHA | c.647-22A>G (n.647-22A>G) c.581-22A>G (n.581-22A>G) n.276-22A>G n.773-22A>G c.749-22A>G (n.749-22A>G) c.547-22A>G c.560-22A>G (n.560-22A>G) n.275-22A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422143C= | CA2336458965 | BCKDHA | c.647-21C= (n.647-21C=) c.581-21C= (n.581-21C=) n.276-21C= n.773-21C= c.749-21C= (n.749-21C=) c.547-21C= c.560-21C= (n.560-21C=) n.275-21C= | |
19 | g.41422143C>G | CA9461226 | BCKDHA | c.647-21C>G (n.647-21C>G) c.581-21C>G (n.581-21C>G) n.276-21C>G n.773-21C>G c.749-21C>G (n.749-21C>G) c.547-21C>G c.560-21C>G (n.560-21C>G) n.275-21C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422144del | CA2838609643 | BCKDHA | c.647-20del (n.647-20del) c.581-20del (n.581-20del) n.276-20del n.773-20del c.749-20del (n.749-20del) c.547-20del c.560-20del (n.560-20del) n.275-20del | |
19 | g.41422144C>A | CA2576793813 | BCKDHA | c.647-20C>A (n.647-20C>A) c.581-20C>A (n.581-20C>A) n.276-20C>A n.773-20C>A c.749-20C>A (n.749-20C>A) c.547-20C>A c.560-20C>A (n.560-20C>A) n.275-20C>A | gnomAD v4 |
19 | g.41422145A>G | CA2585307990 | BCKDHA | c.647-19A>G (n.647-19A>G) c.581-19A>G (n.581-19A>G) n.276-19A>G n.773-19A>G c.749-19A>G (n.749-19A>G) c.547-19A>G c.560-19A>G (n.560-19A>G) n.275-19A>G | ClinVar gnomAD v4 |
19 | g.41422146C>T | CA2580097287 | BCKDHA | c.647-18C>T (n.647-18C>T) c.581-18C>T (n.581-18C>T) n.276-18C>T n.773-18C>T c.749-18C>T (n.749-18C>T) c.547-18C>T c.560-18C>T (n.560-18C>T) n.275-18C>T | ClinVar gnomAD v4 |
19 | g.41422147C= | CA2336458966 | BCKDHA | c.647-17C= (n.647-17C=) c.581-17C= (n.581-17C=) n.276-17C= n.773-17C= c.749-17C= (n.749-17C=) c.547-17C= c.560-17C= (n.560-17C=) n.275-17C= | |
19 | g.41422147C>T | CA633470336 | BCKDHA | c.647-17C>T (n.647-17C>T) c.581-17C>T (n.581-17C>T) n.276-17C>T n.773-17C>T c.749-17C>T (n.749-17C>T) c.547-17C>T c.560-17C>T (n.560-17C>T) n.275-17C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422148C>A | CA2842010922 | BCKDHA | c.647-16C>A (n.647-16C>A) c.581-16C>A (n.581-16C>A) n.276-16C>A n.773-16C>A c.749-16C>A (n.749-16C>A) c.547-16C>A c.560-16C>A (n.560-16C>A) n.275-16C>A | |
19 | g.41422148C= | CA2336458967 | BCKDHA | c.647-16C= (n.647-16C=) c.581-16C= (n.581-16C=) n.276-16C= n.773-16C= c.749-16C= (n.749-16C=) c.547-16C= c.560-16C= (n.560-16C=) n.275-16C= | |
19 | g.41422148C>T | CA9461227 | BCKDHA | c.647-16C>T (n.647-16C>T) c.581-16C>T (n.581-16C>T) n.276-16C>T n.773-16C>T c.749-16C>T (n.749-16C>T) c.547-16C>T c.560-16C>T (n.560-16C>T) n.275-16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422151_41422152dup | CA995976370 | BCKDHA | c.647-13_647-12dup (n.647-13_647-12dup) c.581-13_581-12dup (n.581-13_581-12dup) n.276-13_276-12dup n.773-13_773-12dup c.749-13_749-12dup (n.749-13_749-12dup) c.547-13_547-12dup c.560-13_560-12dup (n.560-13_560-12dup) n.275-13_275-12dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422152C>T | CA2585307991 | BCKDHA | c.647-12C>T (n.647-12C>T) c.581-12C>T (n.581-12C>T) n.276-12C>T n.773-12C>T c.749-12C>T (n.749-12C>T) c.547-12C>T c.560-12C>T (n.560-12C>T) n.275-12C>T | gnomAD v4 |
19 | g.41422154T>C | CA2739276835 | BCKDHA | c.647-10T>C (n.647-10T>C) c.581-10T>C (n.581-10T>C) n.276-10T>C n.773-10T>C c.749-10T>C (n.749-10T>C) c.547-10T>C c.560-10T>C (n.560-10T>C) n.275-10T>C | ClinVar |
19 | g.41422155C>A | CA995976374 | BCKDHA | c.647-9C>A (n.647-9C>A) c.581-9C>A (n.581-9C>A) n.276-9C>A n.773-9C>A c.749-9C>A (n.749-9C>A) c.547-9C>A c.560-9C>A (n.560-9C>A) n.275-9C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422155C= | CA2336458968 | BCKDHA | c.647-9C= (n.647-9C=) c.581-9C= (n.581-9C=) n.276-9C= n.773-9C= c.749-9C= (n.749-9C=) c.547-9C= c.560-9C= (n.560-9C=) n.275-9C= | |
19 | g.41422155C>T | CA882348975 | BCKDHA | c.647-9C>T (n.647-9C>T) c.581-9C>T (n.581-9C>T) n.276-9C>T n.773-9C>T c.749-9C>T (n.749-9C>T) c.547-9C>T c.560-9C>T (n.560-9C>T) n.275-9C>T | dbSNP |
19 | g.41422156C= | CA2336458969 | BCKDHA | c.647-8C= (n.647-8C=) c.581-8C= (n.581-8C=) n.276-8C= n.773-8C= c.749-8C= (n.749-8C=) c.547-8C= c.560-8C= (n.560-8C=) n.275-8C= | |
19 | g.41422156C>T | CA9461228 | BCKDHA | c.647-8C>T (n.647-8C>T) c.581-8C>T (n.581-8C>T) n.276-8C>T n.773-8C>T c.749-8C>T (n.749-8C>T) c.547-8C>T c.560-8C>T (n.560-8C>T) n.275-8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422157C>A | CA2814427379 | BCKDHA | c.647-7C>A (n.647-7C>A) c.581-7C>A (n.581-7C>A) n.276-7C>A n.773-7C>A c.749-7C>A (n.749-7C>A) c.547-7C>A c.560-7C>A (n.560-7C>A) n.275-7C>A | |
19 | g.41422157C= | CA2336458970 | BCKDHA | c.647-7C= (n.647-7C=) c.581-7C= (n.581-7C=) n.276-7C= n.773-7C= c.749-7C= (n.749-7C=) c.547-7C= c.560-7C= (n.560-7C=) n.275-7C= | |
19 | g.41422157C>G | CA2585307992 | BCKDHA | c.647-7C>G (n.647-7C>G) c.581-7C>G (n.581-7C>G) n.276-7C>G n.773-7C>G c.749-7C>G (n.749-7C>G) c.547-7C>G c.560-7C>G (n.560-7C>G) n.275-7C>G | gnomAD v4 |
19 | g.41422157C>T | CA308523992 | BCKDHA | c.647-7C>T (n.647-7C>T) c.581-7C>T (n.581-7C>T) n.276-7C>T n.773-7C>T c.749-7C>T (n.749-7C>T) c.547-7C>T c.560-7C>T (n.560-7C>T) n.275-7C>T | ClinVar dbSNP |
19 | g.41422158C= | CA2336458971 | BCKDHA | c.647-6C= (n.647-6C=) c.581-6C= (n.581-6C=) n.276-6C= n.773-6C= c.749-6C= (n.749-6C=) c.547-6C= c.560-6C= (n.560-6C=) n.275-6C= | |
19 | g.41422158C>G | CA633470337 | BCKDHA | c.647-6C>G (n.647-6C>G) c.581-6C>G (n.581-6C>G) n.276-6C>G n.773-6C>G c.749-6C>G (n.749-6C>G) c.547-6C>G c.560-6C>G (n.560-6C>G) n.275-6C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422158C>T | CA915952936 | BCKDHA | c.647-6C>T (n.647-6C>T) c.581-6C>T (n.581-6C>T) n.276-6C>T n.773-6C>T c.749-6C>T (n.749-6C>T) c.547-6C>T c.560-6C>T (n.560-6C>T) n.275-6C>T | ClinVar dbSNP gnomAD v4 |
19 | g.41422160G>A | CA2336458973 | BCKDHA | c.647-4G>A (n.647-4G>A) c.581-4G>A (n.581-4G>A) n.276-4G>A n.773-4G>A c.749-4G>A (n.749-4G>A) c.547-4G>A c.560-4G>A (n.560-4G>A) n.275-4G>A | dbSNP |
19 | g.41422160G>C | CA882349001 | BCKDHA | c.647-4G>C (n.647-4G>C) c.581-4G>C (n.581-4G>C) n.276-4G>C n.773-4G>C c.749-4G>C (n.749-4G>C) c.547-4G>C c.560-4G>C (n.560-4G>C) n.275-4G>C | dbSNP |
19 | g.41422160G= | CA2336458972 | BCKDHA | c.647-4G= (n.647-4G=) c.581-4G= (n.581-4G=) n.276-4G= n.773-4G= c.749-4G= (n.749-4G=) c.547-4G= c.560-4G= (n.560-4G=) n.275-4G= | |
19 | g.41422161C= | CA2336458974 | BCKDHA | c.647-3C= (n.647-3C=) c.581-3C= (n.581-3C=) n.276-3C= n.773-3C= c.749-3C= (n.749-3C=) c.547-3C= c.560-3C= (n.560-3C=) n.275-3C= | |
19 | g.41422161C>T | CA308524001 | BCKDHA | c.647-3C>T (n.647-3C>T) c.581-3C>T (n.581-3C>T) n.276-3C>T n.773-3C>T c.749-3C>T (n.749-3C>T) c.547-3C>T c.560-3C>T (n.560-3C>T) n.275-3C>T | dbSNP gnomAD v4 |
19 | g.41422162A>C | CA406012654 | BCKDHA | c.647-2A>C (n.647-2A>C) c.581-2A>C (n.581-2A>C) n.276-2A>C n.773-2A>C c.749-2A>C (n.749-2A>C) c.547-2A>C c.560-2A>C (n.560-2A>C) n.275-2A>C | |
19 | g.41422162A>G | CA406012655 | BCKDHA | c.647-2A>G (n.647-2A>G) c.581-2A>G (n.581-2A>G) n.276-2A>G n.773-2A>G c.749-2A>G (n.749-2A>G) c.547-2A>G c.560-2A>G (n.560-2A>G) n.275-2A>G | |
19 | g.41422162A>T | CA406012656 | BCKDHA | c.647-2A>T (n.647-2A>T) c.581-2A>T (n.581-2A>T) n.276-2A>T n.773-2A>T c.749-2A>T (n.749-2A>T) c.547-2A>T c.560-2A>T (n.560-2A>T) n.275-2A>T | |
19 | g.41422163G>A | CA406012657 | BCKDHA | c.647-1G>A (n.647-1G>A) c.581-1G>A (n.581-1G>A) n.276-1G>A n.773-1G>A c.749-1G>A (n.749-1G>A) c.547-1G>A c.560-1G>A (n.560-1G>A) n.275-1G>A | |
19 | g.41422163G>C | CA9461229 | BCKDHA | c.647-1G>C (n.647-1G>C) c.581-1G>C (n.581-1G>C) n.276-1G>C n.773-1G>C c.749-1G>C (n.749-1G>C) c.547-1G>C c.560-1G>C (n.560-1G>C) n.275-1G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422163G= | CA2336458975 | BCKDHA | c.647-1G= (n.647-1G=) c.581-1G= (n.581-1G=) n.276-1G= n.773-1G= c.749-1G= (n.749-1G=) c.547-1G= c.560-1G= (n.560-1G=) n.275-1G= | |
19 | g.41422163G>T | CA406012658 | BCKDHA | c.647-1G>T (n.647-1G>T) c.581-1G>T (n.581-1G>T) n.276-1G>T n.773-1G>T c.749-1G>T (n.749-1G>T) c.547-1G>T c.560-1G>T (n.560-1G>T) n.275-1G>T | |
19 | g.41422164C>A | CA406012659 | BCKDHA | c.647C>A (p.Ala216Glu) c.581C>A (p.Ala194Glu) n.276C>A n.773C>A c.749C>A (p.Ala250Glu) c.547C>A c.560C>A (p.Ala187Glu) n.275C>A | |
19 | g.41422164C= | CA2336458976 | BCKDHA | c.647C= (p.Ala216=) c.581C= (p.Ala194=) n.276C= n.773C= c.749C= (p.Ala250=) c.547C= c.560C= (p.Ala187=) n.275C= | |
19 | g.41422164C>G | CA406012660 | BCKDHA | c.647C>G (p.Ala216Gly) c.581C>G (p.Ala194Gly) n.276C>G n.773C>G c.749C>G (p.Ala250Gly) c.547C>G c.560C>G (p.Ala187Gly) n.275C>G | |
19 | g.41422164C>T | CA9461230 | BCKDHA | c.647C>T (p.Ala216Val) c.581C>T (p.Ala194Val) n.276C>T n.773C>T c.749C>T (p.Ala250Val) c.547C>T c.560C>T (p.Ala187Val) n.275C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422165G>A | CA9461232 | BCKDHA | c.648G>A (p.Ala216=) c.582G>A (p.Ala194=) n.277G>A n.774G>A c.750G>A (p.Ala250=) c.548G>A c.561G>A (p.Ala187=) n.276G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422165G>C | CA507690282 | BCKDHA | c.648G>C (p.Ala216=) c.582G>C (p.Ala194=) n.277G>C n.774G>C c.750G>C (p.Ala250=) c.548G>C c.561G>C (p.Ala187=) n.276G>C | ClinVar gnomAD v4 |
19 | g.41422165G= | CA2336458977 | BCKDHA | c.648G= (p.Ala216=) c.582G= (p.Ala194=) n.277G= n.774G= c.750G= (p.Ala250=) c.548G= c.561G= (p.Ala187=) n.276G= | |
19 | g.41422165G>T | CA9461231 | BCKDHA | c.648G>T (p.Ala216=) c.582G>T (p.Ala194=) n.277G>T n.774G>T c.750G>T (p.Ala250=) c.548G>T c.561G>T (p.Ala187=) n.276G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422166G>A | CA406012661 | BCKDHA | c.649G>A (p.Val217Met) c.583G>A (p.Val195Met) n.278G>A n.775G>A c.751G>A (p.Val251Met) c.549G>A c.562G>A (p.Val188Met) n.277G>A | |
19 | g.41422166G>C | CA406012662 | BCKDHA | c.649G>C (p.Val217Leu) c.583G>C (p.Val195Leu) n.278G>C n.775G>C c.751G>C (p.Val251Leu) c.549G>C c.562G>C (p.Val188Leu) n.277G>C | |
19 | g.41422166G>T | CA406012663 | BCKDHA | c.649G>T (p.Val217Leu) c.583G>T (p.Val195Leu) n.278G>T n.775G>T c.751G>T (p.Val251Leu) c.549G>T c.562G>T (p.Val188Leu) n.277G>T | |
19 | g.41422167T>A | CA406012664 | BCKDHA | c.650T>A (p.Val217Glu) c.584T>A (p.Val195Glu) n.279T>A n.776T>A c.752T>A (p.Val251Glu) c.550T>A c.563T>A (p.Val188Glu) n.278T>A | |
19 | g.41422167T>C | CA406012665 | BCKDHA | c.650T>C (p.Val217Ala) c.584T>C (p.Val195Ala) n.279T>C n.776T>C c.752T>C (p.Val251Ala) c.550T>C c.563T>C (p.Val188Ala) n.278T>C | |
19 | g.41422167T>G | CA406012666 | BCKDHA | c.650T>G (p.Val217Gly) c.584T>G (p.Val195Gly) n.279T>G n.776T>G c.752T>G (p.Val251Gly) c.550T>G c.563T>G (p.Val188Gly) n.278T>G | gnomAD v4 |
19 | g.41422168G>A | CA507690292 | BCKDHA | c.651G>A (p.Val217=) c.585G>A (p.Val195=) n.280G>A n.777G>A c.753G>A (p.Val251=) c.551G>A c.564G>A (p.Val188=) n.279G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422168G>C | CA507690293 | BCKDHA | c.651G>C (p.Val217=) c.585G>C (p.Val195=) n.280G>C n.777G>C c.753G>C (p.Val251=) c.551G>C c.564G>C (p.Val188=) n.279G>C | |
19 | g.41422168G= | CA2336458978 | BCKDHA | c.651G= (p.Val217=) c.585G= (p.Val195=) n.280G= n.777G= c.753G= (p.Val251=) c.551G= c.564G= (p.Val188=) n.279G= | |
19 | g.41422168G>T | CA507690294 | BCKDHA | c.651G>T (p.Val217=) c.585G>T (p.Val195=) n.280G>T n.777G>T c.753G>T (p.Val251=) c.551G>T c.564G>T (p.Val188=) n.279G>T | |
19 | g.41422172dup | CA2814427384 | BCKDHA | c.655dup (p.Ala219GlyfsTer25) c.589dup (p.Ala197GlyfsTer25) n.284dup n.781dup c.757dup (p.Ala253GlyfsTer25) c.555dup c.568dup (p.Ala190GlyfsTer25) n.283dup | |
19 | g.41422172del | CA2576793826 | BCKDHA | c.655del (p.Ala219ArgfsTer?) c.589del (p.Ala197ArgfsTer?) n.284del n.781del c.757del (p.Ala253ArgfsTer?) c.555del c.568del (p.Ala190ArgfsTer?) n.283del | ClinVar |
19 | g.41422169G>A | CA406012667 | BCKDHA | c.652G>A (p.Gly218Arg) c.586G>A (p.Gly196Arg) n.281G>A n.778G>A c.754G>A (p.Gly252Arg) c.552G>A c.565G>A (p.Gly189Arg) n.280G>A | |
19 | g.41422169G>C | CA406012668 | BCKDHA | c.652G>C (p.Gly218Arg) c.586G>C (p.Gly196Arg) n.281G>C n.778G>C c.754G>C (p.Gly252Arg) c.552G>C c.565G>C (p.Gly189Arg) n.280G>C | |
19 | g.41422169G>T | CA406012669 | BCKDHA | c.652G>T (p.Gly218Trp) c.586G>T (p.Gly196Trp) n.281G>T n.778G>T c.754G>T (p.Gly252Trp) c.552G>T c.565G>T (p.Gly189Trp) n.280G>T | |
19 | g.41422170G>A | CA406012672 | BCKDHA | c.653G>A (p.Gly218Glu) c.587G>A (p.Gly196Glu) n.282G>A n.779G>A c.755G>A (p.Gly252Glu) c.553G>A c.566G>A (p.Gly189Glu) n.281G>A | |
19 | g.41422170G>C | CA406012671 | BCKDHA | c.653G>C (p.Gly218Ala) c.587G>C (p.Gly196Ala) n.282G>C n.779G>C c.755G>C (p.Gly252Ala) c.553G>C c.566G>C (p.Gly189Ala) n.281G>C | ClinVar dbSNP |
19 | g.41422170G= | CA2336458979 | BCKDHA | c.653G= (p.Gly218=) c.587G= (p.Gly196=) n.282G= n.779G= c.755G= (p.Gly252=) c.553G= c.566G= (p.Gly189=) n.281G= | |
19 | g.41422170G>T | CA406012670 | BCKDHA | c.653G>T (p.Gly218Val) c.587G>T (p.Gly196Val) n.282G>T n.779G>T c.755G>T (p.Gly252Val) c.553G>T c.566G>T (p.Gly189Val) n.281G>T | |
19 | g.41422171G>A | CA507690302 | BCKDHA | c.654G>A (p.Gly218=) c.588G>A (p.Gly196=) n.283G>A n.780G>A c.756G>A (p.Gly252=) c.554G>A c.567G>A (p.Gly189=) n.282G>A | |
19 | g.41422171G>C | CA507690304 | BCKDHA | c.654G>C (p.Gly218=) c.588G>C (p.Gly196=) n.283G>C n.780G>C c.756G>C (p.Gly252=) c.554G>C c.567G>C (p.Gly189=) n.282G>C | |
19 | g.41422171G>T | CA507690303 | BCKDHA | c.654G>T (p.Gly218=) c.588G>T (p.Gly196=) n.283G>T n.780G>T c.756G>T (p.Gly252=) c.554G>T c.567G>T (p.Gly189=) n.282G>T | |
19 | g.41422172G>A | CA406012675 | BCKDHA | c.655G>A (p.Ala219Thr) c.589G>A (p.Ala197Thr) n.284G>A n.781G>A c.757G>A (p.Ala253Thr) c.555G>A c.568G>A (p.Ala190Thr) n.283G>A | |
19 | g.41422172G>C | CA406012673 | BCKDHA | c.655G>C (p.Ala219Pro) c.589G>C (p.Ala197Pro) n.284G>C n.781G>C c.757G>C (p.Ala253Pro) c.555G>C c.568G>C (p.Ala190Pro) n.283G>C | |
19 | g.41422172G>T | CA406012674 | BCKDHA | c.655G>T (p.Ala219Ser) c.589G>T (p.Ala197Ser) n.284G>T n.781G>T c.757G>T (p.Ala253Ser) c.555G>T c.568G>T (p.Ala190Ser) n.283G>T | |
19 | g.41422173C>A | CA9461234 | BCKDHA | c.656C>A (p.Ala219Glu) c.590C>A (p.Ala197Glu) n.285C>A n.782C>A c.758C>A (p.Ala253Glu) c.556C>A c.569C>A (p.Ala190Glu) n.284C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422173C= | CA2336458980 | BCKDHA | c.656C= (p.Ala219=) c.590C= (p.Ala197=) n.285C= n.782C= c.758C= (p.Ala253=) c.556C= c.569C= (p.Ala190=) n.284C= | |
19 | g.41422173C>G | CA406012676 | BCKDHA | c.656C>G (p.Ala219Gly) c.590C>G (p.Ala197Gly) n.285C>G n.782C>G c.758C>G (p.Ala253Gly) c.556C>G c.569C>G (p.Ala190Gly) n.284C>G | |
19 | g.41422173C>T | CA9461233 | BCKDHA | c.656C>T (p.Ala219Val) c.590C>T (p.Ala197Val) n.285C>T n.782C>T c.758C>T (p.Ala253Val) c.556C>T c.569C>T (p.Ala190Val) n.284C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41422174G>A | CA9461235 | BCKDHA | c.657G>A (p.Ala219=) c.591G>A (p.Ala197=) n.286G>A n.783G>A c.759G>A (p.Ala253=) c.557G>A c.570G>A (p.Ala190=) n.285G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422174G>C | CA507690310 | BCKDHA | c.657G>C (p.Ala219=) c.591G>C (p.Ala197=) n.286G>C n.783G>C c.759G>C (p.Ala253=) c.557G>C c.570G>C (p.Ala190=) n.285G>C | ClinVar gnomAD v4 |
19 | g.41422174G= | CA2336458981 | BCKDHA | c.657G= (p.Ala219=) c.591G= (p.Ala197=) n.286G= n.783G= c.759G= (p.Ala253=) c.557G= c.570G= (p.Ala190=) n.285G= | |
19 | g.41422174G>T | CA507690311 | BCKDHA | c.657G>T (p.Ala219=) c.591G>T (p.Ala197=) n.286G>T n.783G>T c.759G>T (p.Ala253=) c.557G>T c.570G>T (p.Ala190=) n.285G>T | |
19 | g.41422175G>A | CA406012677 | BCKDHA | c.658G>A (p.Ala220Thr) c.592G>A (p.Ala198Thr) n.287G>A n.784G>A c.760G>A (p.Ala254Thr) c.558G>A c.571G>A (p.Ala191Thr) n.286G>A | |
19 | g.41422175G>C | CA406012678 | BCKDHA | c.658G>C (p.Ala220Pro) c.592G>C (p.Ala198Pro) n.287G>C n.784G>C c.760G>C (p.Ala254Pro) c.558G>C c.571G>C (p.Ala191Pro) n.286G>C | |
19 | g.41422175G>T | CA406012679 | BCKDHA | c.658G>T (p.Ala220Ser) c.592G>T (p.Ala198Ser) n.287G>T n.784G>T c.760G>T (p.Ala254Ser) c.558G>T c.571G>T (p.Ala191Ser) n.286G>T | |
19 | g.41422175_41422179delinsGCGTA | CA2336458982 | BCKDHA | c.658_662delinsGCGTA (p.Ala220=) c.592_596delinsGCGTA (p.Ala198=) n.287_291delinsGCGTA n.784_788delinsGCGTA c.760_764delinsGCGTA (p.Ala254=) c.558_562delinsGCGTA c.571_575delinsGCGTA (p.Ala191=) n.286_290delinsGCGTA | |
19 | g.41422176del | CA2580097290 | BCKDHA | c.659del (p.Ala220GlyfsTer?) c.593del (p.Ala198GlyfsTer?) n.288del n.785del c.761del (p.Ala254GlyfsTer?) c.559del c.572del (p.Ala191GlyfsTer?) n.287del | ClinVar |
19 | g.41422176C>A | CA406012680 | BCKDHA | c.659C>A (p.Ala220Glu) c.593C>A (p.Ala198Glu) n.288C>A n.785C>A c.761C>A (p.Ala254Glu) c.559C>A c.572C>A (p.Ala191Glu) n.287C>A | |
19 | g.41422176C= | CA2336458983 | BCKDHA | c.659C= (p.Ala220=) c.593C= (p.Ala198=) n.288C= n.785C= c.761C= (p.Ala254=) c.559C= c.572C= (p.Ala191=) n.287C= | |
19 | g.41422176C>G | CA406012681 | BCKDHA | c.659C>G (p.Ala220Gly) c.593C>G (p.Ala198Gly) n.288C>G n.785C>G c.761C>G (p.Ala254Gly) c.559C>G c.572C>G (p.Ala191Gly) n.287C>G | |
19 | g.41422176C>T | CA221207 | BCKDHA | c.659C>T (p.Ala220Val) c.593C>T (p.Ala198Val) n.288C>T n.785C>T c.761C>T (p.Ala254Val) c.559C>T c.572C>T (p.Ala191Val) n.287C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422178_41422181del | CA312364 | BCKDHA | c.661_664del (p.Tyr221GlnfsTer?) c.595_598del (p.Tyr199GlnfsTer?) n.290_293del n.787_790del c.763_766del (p.Tyr255GlnfsTer?) c.561_564del c.574_577del (p.Tyr192GlnfsTer?) n.289_292del | ClinVar dbSNP gnomAD v4 |
19 | g.41422177G>A | CA9461236 | BCKDHA | c.660G>A (p.Ala220=) c.594G>A (p.Ala198=) n.289G>A n.786G>A c.762G>A (p.Ala254=) c.560G>A c.573G>A (p.Ala191=) n.288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422177G>C | CA507690318 | BCKDHA | c.660G>C (p.Ala220=) c.594G>C (p.Ala198=) n.289G>C n.786G>C c.762G>C (p.Ala254=) c.560G>C c.573G>C (p.Ala191=) n.288G>C | |
19 | g.41422177G= | CA2336458984 | BCKDHA | c.660G= (p.Ala220=) c.594G= (p.Ala198=) n.289G= n.786G= c.762G= (p.Ala254=) c.560G= c.573G= (p.Ala191=) n.288G= | |
19 | g.41422177G>T | CA507690317 | BCKDHA | c.660G>T (p.Ala220=) c.594G>T (p.Ala198=) n.289G>T n.786G>T c.762G>T (p.Ala254=) c.560G>T c.573G>T (p.Ala191=) n.288G>T | |
19 | g.41422178T>A | CA406012683 | BCKDHA | c.661T>A (p.Tyr221Asn) c.595T>A (p.Tyr199Asn) n.290T>A n.787T>A c.763T>A (p.Tyr255Asn) c.561T>A c.574T>A (p.Tyr192Asn) n.289T>A | gnomAD v4 |
19 | g.41422178T>C | CA9461237 | BCKDHA | c.661T>C (p.Tyr221His) c.595T>C (p.Tyr199His) n.290T>C n.787T>C c.763T>C (p.Tyr255His) c.561T>C c.574T>C (p.Tyr192His) n.289T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422178T>G | CA406012682 | BCKDHA | c.661T>G (p.Tyr221Asp) c.595T>G (p.Tyr199Asp) n.290T>G n.787T>G c.763T>G (p.Tyr255Asp) c.561T>G c.574T>G (p.Tyr192Asp) n.289T>G | |
19 | g.41422178T= | CA2336458985 | BCKDHA | c.661T= (p.Tyr221=) c.595T= (p.Tyr199=) n.290T= n.787T= c.763T= (p.Tyr255=) c.561T= c.574T= (p.Tyr192=) n.289T= | |
19 | g.41422179A>C | CA406012684 | BCKDHA | c.662A>C (p.Tyr221Ser) c.596A>C (p.Tyr199Ser) n.291A>C n.788A>C c.764A>C (p.Tyr255Ser) c.562A>C c.575A>C (p.Tyr192Ser) n.290A>C | |
19 | g.41422179A>G | CA406012685 | BCKDHA | c.662A>G (p.Tyr221Cys) c.596A>G (p.Tyr199Cys) n.291A>G n.788A>G c.764A>G (p.Tyr255Cys) c.562A>G c.575A>G (p.Tyr192Cys) n.290A>G | |
19 | g.41422179A>T | CA406012686 | BCKDHA | c.662A>T (p.Tyr221Phe) c.596A>T (p.Tyr199Phe) n.291A>T n.788A>T c.764A>T (p.Tyr255Phe) c.562A>T c.575A>T (p.Tyr192Phe) n.290A>T | |
19 | g.41422180del | CA2573156391 | BCKDHA | c.663del (p.Tyr221Ter) c.597del (p.Tyr199Ter) n.292del n.789del c.765del (p.Tyr255Ter) c.563del c.576del (p.Tyr192Ter) n.291del | ClinVar dbSNP |
19 | g.41422180C>A | CA406012687 | BCKDHA | c.663C>A (p.Tyr221Ter) c.597C>A (p.Tyr199Ter) n.292C>A n.789C>A c.765C>A (p.Tyr255Ter) c.563C>A c.576C>A (p.Tyr192Ter) n.291C>A | |
19 | g.41422180C= | CA2336458986 | BCKDHA | c.663C= (p.Tyr221=) c.597C= (p.Tyr199=) n.292C= n.789C= c.765C= (p.Tyr255=) c.563C= c.576C= (p.Tyr192=) n.291C= | |
19 | g.41422180C>G | CA406012688 | BCKDHA | c.663C>G (p.Tyr221Ter) c.597C>G (p.Tyr199Ter) n.292C>G n.789C>G c.765C>G (p.Tyr255Ter) c.563C>G c.576C>G (p.Tyr192Ter) n.291C>G | gnomAD v4 |
19 | g.41422180C>T | CA221208 | BCKDHA | c.663C>T (p.Tyr221=) c.597C>T (p.Tyr199=) n.292C>T n.789C>T c.765C>T (p.Tyr255=) c.563C>T c.576C>T (p.Tyr192=) n.291C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422181G>A | CA9461238 | BCKDHA | c.664G>A (p.Ala222Thr) c.598G>A (p.Ala200Thr) n.293G>A n.790G>A c.766G>A (p.Ala256Thr) c.564G>A c.577G>A (p.Ala193Thr) n.292G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422181G>C | CA406012689 | BCKDHA | c.664G>C (p.Ala222Pro) c.598G>C (p.Ala200Pro) n.293G>C n.790G>C c.766G>C (p.Ala256Pro) c.564G>C c.577G>C (p.Ala193Pro) n.292G>C | |
19 | g.41422181G= | CA2336458987 | BCKDHA | c.664G= (p.Ala222=) c.598G= (p.Ala200=) n.293G= n.790G= c.766G= (p.Ala256=) c.564G= c.577G= (p.Ala193=) n.292G= | |
19 | g.41422181G>T | CA406012690 | BCKDHA | c.664G>T (p.Ala222Ser) c.598G>T (p.Ala200Ser) n.293G>T n.790G>T c.766G>T (p.Ala256Ser) c.564G>T c.577G>T (p.Ala193Ser) n.292G>T | |
19 | g.41422182C>A | CA406012691 | BCKDHA | c.665C>A (p.Ala222Glu) c.599C>A (p.Ala200Glu) n.294C>A n.791C>A c.767C>A (p.Ala256Glu) c.565C>A c.578C>A (p.Ala193Glu) n.293C>A | |
19 | g.41422182C>G | CA406012692 | BCKDHA | c.665C>G (p.Ala222Gly) c.599C>G (p.Ala200Gly) n.294C>G n.791C>G c.767C>G (p.Ala256Gly) c.565C>G c.578C>G (p.Ala193Gly) n.293C>G | |
19 | g.41422182C>T | CA406012693 | BCKDHA | c.665C>T (p.Ala222Val) c.599C>T (p.Ala200Val) n.294C>T n.791C>T c.767C>T (p.Ala256Val) c.565C>T c.578C>T (p.Ala193Val) n.293C>T | |
19 | g.41422183A>C | CA507690329 | BCKDHA | c.666A>C (p.Ala222=) c.600A>C (p.Ala200=) n.295A>C n.792A>C c.768A>C (p.Ala256=) c.566A>C c.579A>C (p.Ala193=) n.294A>C | |
19 | g.41422183A>G | CA507690331 | BCKDHA | c.666A>G (p.Ala222=) c.600A>G (p.Ala200=) n.295A>G n.792A>G c.768A>G (p.Ala256=) c.566A>G c.579A>G (p.Ala193=) n.294A>G | |
19 | g.41422183A>T | CA507690333 | BCKDHA | c.666A>T (p.Ala222=) c.600A>T (p.Ala200=) n.295A>T n.792A>T c.768A>T (p.Ala256=) c.566A>T c.579A>T (p.Ala193=) n.294A>T | |
19 | g.41422184G>A | CA406012695 | BCKDHA | c.667G>A (p.Ala223Thr) c.601G>A (p.Ala201Thr) n.296G>A n.793G>A c.769G>A (p.Ala257Thr) c.567G>A c.580G>A (p.Ala194Thr) n.295G>A | |
19 | g.41422184G>C | CA406012696 | BCKDHA | c.667G>C (p.Ala223Pro) c.601G>C (p.Ala201Pro) n.296G>C n.793G>C c.769G>C (p.Ala257Pro) c.567G>C c.580G>C (p.Ala194Pro) n.295G>C | |
19 | g.41422184G>T | CA406012694 | BCKDHA | c.667G>T (p.Ala223Ser) c.601G>T (p.Ala201Ser) n.296G>T n.793G>T c.769G>T (p.Ala257Ser) c.567G>T c.580G>T (p.Ala194Ser) n.295G>T | |
19 | g.41422185C>A | CA406012697 | BCKDHA | c.668C>A (p.Ala223Asp) c.602C>A (p.Ala201Asp) n.297C>A n.794C>A c.770C>A (p.Ala257Asp) c.568C>A c.581C>A (p.Ala194Asp) n.296C>A | |
19 | g.41422185C>G | CA406012699 | BCKDHA | c.668C>G (p.Ala223Gly) c.602C>G (p.Ala201Gly) n.297C>G n.794C>G c.770C>G (p.Ala257Gly) c.568C>G c.581C>G (p.Ala194Gly) n.296C>G | |
19 | g.41422185C>T | CA406012698 | BCKDHA | c.668C>T (p.Ala223Val) c.602C>T (p.Ala201Val) n.297C>T n.794C>T c.770C>T (p.Ala257Val) c.568C>T c.581C>T (p.Ala194Val) n.296C>T | |
19 | g.41422186C>A | CA507690341 | BCKDHA | c.669C>A (p.Ala223=) c.603C>A (p.Ala201=) n.298C>A n.795C>A c.771C>A (p.Ala257=) c.569C>A c.582C>A (p.Ala194=) n.297C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422186C= | CA2336458988 | BCKDHA | c.669C= (p.Ala223=) c.603C= (p.Ala201=) n.298C= n.795C= c.771C= (p.Ala257=) c.569C= c.582C= (p.Ala194=) n.297C= | |
19 | g.41422186C>G | CA507690342 | BCKDHA | c.669C>G (p.Ala223=) c.603C>G (p.Ala201=) n.298C>G n.795C>G c.771C>G (p.Ala257=) c.569C>G c.582C>G (p.Ala194=) n.297C>G | |
19 | g.41422186C>T | CA507690340 | BCKDHA | c.669C>T (p.Ala223=) c.603C>T (p.Ala201=) n.298C>T n.795C>T c.771C>T (p.Ala257=) c.569C>T c.582C>T (p.Ala194=) n.297C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422187A= | CA2336458989 | BCKDHA | c.670A= (p.Lys224=) c.604A= (p.Lys202=) n.299A= n.796A= c.772A= (p.Lys258=) c.570A= c.583A= (p.Lys195=) n.298A= | |
19 | g.41422187A>C | CA406012700 | BCKDHA | c.670A>C (p.Lys224Gln) c.604A>C (p.Lys202Gln) n.299A>C n.796A>C c.772A>C (p.Lys258Gln) c.570A>C c.583A>C (p.Lys195Gln) n.298A>C | |
19 | g.41422187A>G | CA406012701 | BCKDHA | c.670A>G (p.Lys224Glu) c.604A>G (p.Lys202Glu) n.299A>G n.796A>G c.772A>G (p.Lys258Glu) c.570A>G c.583A>G (p.Lys195Glu) n.298A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422187A>T | CA406012702 | BCKDHA | c.670A>T (p.Lys224Ter) c.604A>T (p.Lys202Ter) n.299A>T n.796A>T c.772A>T (p.Lys258Ter) c.570A>T c.583A>T (p.Lys195Ter) n.298A>T | |
19 | g.41422188A= | CA2336458990 | BCKDHA | c.671A= (p.Lys224=) c.605A= (p.Lys202=) n.300A= n.797A= c.773A= (p.Lys258=) c.571A= c.584A= (p.Lys195=) n.299A= | |
19 | g.41422188A>C | CA406012703 | BCKDHA | c.671A>C (p.Lys224Thr) c.605A>C (p.Lys202Thr) n.300A>C n.797A>C c.773A>C (p.Lys258Thr) c.571A>C c.584A>C (p.Lys195Thr) n.299A>C | dbSNP gnomAD v4 |
19 | g.41422188A>G | CA406012704 | BCKDHA | c.671A>G (p.Lys224Arg) c.605A>G (p.Lys202Arg) n.300A>G n.797A>G c.773A>G (p.Lys258Arg) c.571A>G c.584A>G (p.Lys195Arg) n.299A>G | |
19 | g.41422188A>T | CA406012705 | BCKDHA | c.671A>T (p.Lys224Met) c.605A>T (p.Lys202Met) n.300A>T n.797A>T c.773A>T (p.Lys258Met) c.571A>T c.584A>T (p.Lys195Met) n.299A>T | |
19 | g.41422189G>A | CA507690348 | BCKDHA | c.672G>A (p.Lys224=) c.606G>A (p.Lys202=) n.301G>A n.798G>A c.774G>A (p.Lys258=) c.572G>A c.585G>A (p.Lys195=) n.300G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422189G>C | CA406012706 | BCKDHA | c.672G>C (p.Lys224Asn) c.606G>C (p.Lys202Asn) n.301G>C n.798G>C c.774G>C (p.Lys258Asn) c.572G>C c.585G>C (p.Lys195Asn) n.300G>C | |
19 | g.41422189G= | CA2336458991 | BCKDHA | c.672G= (p.Lys224=) c.606G= (p.Lys202=) n.301G= n.798G= c.774G= (p.Lys258=) c.572G= c.585G= (p.Lys195=) n.300G= | |
19 | g.41422189G>T | CA406012707 | BCKDHA | c.672G>T (p.Lys224Asn) c.606G>T (p.Lys202Asn) n.301G>T n.798G>T c.774G>T (p.Lys258Asn) c.572G>T c.585G>T (p.Lys195Asn) n.300G>T | |
19 | g.41422190del | CA2831039050 | BCKDHA | c.673del (p.Arg225GlyfsTer?) c.607del (p.Arg203GlyfsTer?) n.302del n.799del c.775del (p.Arg259GlyfsTer?) c.573del c.586del (p.Arg196GlyfsTer?) n.301del | |
19 | g.41422190C>A | CA507690351 | BCKDHA | c.673C>A (p.Arg225=) c.607C>A (p.Arg203=) n.302C>A n.799C>A c.775C>A (p.Arg259=) c.573C>A c.586C>A (p.Arg196=) n.301C>A | |
19 | g.41422190C= | CA2336458993 | BCKDHA | c.673C= (p.Arg225=) c.607C= (p.Arg203=) n.302C= n.799C= c.775C= (p.Arg259=) c.573C= c.586C= (p.Arg196=) n.301C= | |
19 | g.41422190C>G | CA406012708 | BCKDHA | c.673C>G (p.Arg225Gly) c.607C>G (p.Arg203Gly) n.302C>G n.799C>G c.775C>G (p.Arg259Gly) c.573C>G c.586C>G (p.Arg196Gly) n.301C>G | |
19 | g.41422190C>T | CA9461239 | BCKDHA | c.673C>T (p.Arg225Trp) c.607C>T (p.Arg203Trp) n.302C>T n.799C>T c.775C>T (p.Arg259Trp) c.573C>T c.586C>T (p.Arg196Trp) n.301C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422190_41422191delinsCG | CA2336458992 | BCKDHA | c.673_674delinsCG (p.Arg225=) c.607_608delinsCG (p.Arg203=) n.302_303delinsCG n.799_800delinsCG c.775_776delinsCG (p.Arg259=) c.573_574delinsCG c.586_587delinsCG (p.Arg196=) n.301_302delinsCG | |
19 | g.41422191G>A | CA9461241 | BCKDHA | c.674G>A (p.Arg225Gln) c.608G>A (p.Arg203Gln) n.303G>A n.800G>A c.776G>A (p.Arg259Gln) c.574G>A c.587G>A (p.Arg196Gln) n.302G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422191G>C | CA406012710 | BCKDHA | c.674G>C (p.Arg225Pro) c.608G>C (p.Arg203Pro) n.303G>C n.800G>C c.776G>C (p.Arg259Pro) c.574G>C c.587G>C (p.Arg196Pro) n.302G>C | |
19 | g.41422191G= | CA2336458994 | BCKDHA | c.674G= (p.Arg225=) c.608G= (p.Arg203=) n.303G= n.800G= c.776G= (p.Arg259=) c.574G= c.587G= (p.Arg196=) n.302G= | |
19 | g.41422191G>T | CA406012709 | BCKDHA | c.674G>T (p.Arg225Leu) c.608G>T (p.Arg203Leu) n.303G>T n.800G>T c.776G>T (p.Arg259Leu) c.574G>T c.587G>T (p.Arg196Leu) n.302G>T | |
19 | g.41422193del | CA9461240 | BCKDHA | c.676del (p.Ala226ProfsTer?) c.610del (p.Ala204ProfsTer?) n.305del n.802del c.778del (p.Ala260ProfsTer?) c.576del c.589del (p.Ala197ProfsTer?) n.304del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422192G>A | CA507690363 | BCKDHA | c.675G>A (p.Arg225=) c.609G>A (p.Arg203=) n.304G>A n.801G>A c.777G>A (p.Arg259=) c.575G>A c.588G>A (p.Arg196=) n.303G>A | |
19 | g.41422192G>C | CA507690361 | BCKDHA | c.675G>C (p.Arg225=) c.609G>C (p.Arg203=) n.304G>C n.801G>C c.777G>C (p.Arg259=) c.575G>C c.588G>C (p.Arg196=) n.303G>C | |
19 | g.41422192G>T | CA507690365 | BCKDHA | c.675G>T (p.Arg225=) c.609G>T (p.Arg203=) n.304G>T n.801G>T c.777G>T (p.Arg259=) c.575G>T c.588G>T (p.Arg196=) n.303G>T | ClinVar dbSNP |
19 | g.41422193G>A | CA406012711 | BCKDHA | c.676G>A (p.Ala226Thr) c.610G>A (p.Ala204Thr) n.305G>A n.802G>A c.778G>A (p.Ala260Thr) c.576G>A c.589G>A (p.Ala197Thr) n.304G>A | gnomAD v4 |
19 | g.41422193G>C | CA406012712 | BCKDHA | c.676G>C (p.Ala226Pro) c.610G>C (p.Ala204Pro) n.305G>C n.802G>C c.778G>C (p.Ala260Pro) c.576G>C c.589G>C (p.Ala197Pro) n.304G>C | |
19 | g.41422193G>T | CA406012713 | BCKDHA | c.676G>T (p.Ala226Ser) c.610G>T (p.Ala204Ser) n.305G>T n.802G>T c.778G>T (p.Ala260Ser) c.576G>T c.589G>T (p.Ala197Ser) n.304G>T | |
19 | g.41422194C>A | CA406012714 | BCKDHA | c.677C>A (p.Ala226Asp) c.611C>A (p.Ala204Asp) n.306C>A n.803C>A c.779C>A (p.Ala260Asp) c.577C>A c.590C>A (p.Ala197Asp) n.305C>A | |
19 | g.41422194C>G | CA406012715 | BCKDHA | c.677C>G (p.Ala226Gly) c.611C>G (p.Ala204Gly) n.306C>G n.803C>G c.779C>G (p.Ala260Gly) c.577C>G c.590C>G (p.Ala197Gly) n.305C>G | |
19 | g.41422194C>T | CA406012716 | BCKDHA | c.677C>T (p.Ala226Val) c.611C>T (p.Ala204Val) n.306C>T n.803C>T c.779C>T (p.Ala260Val) c.577C>T c.590C>T (p.Ala197Val) n.305C>T | ClinVar gnomAD v4 |
19 | g.41422195del | CA2735929923 | BCKDHA | c.678del (p.Asn227MetfsTer?) c.612del (p.Asn205MetfsTer?) n.307del n.804del c.780del (p.Asn261MetfsTer?) c.578del c.591del (p.Asn198MetfsTer?) n.306del | dbSNP |
19 | g.41422195C>A | CA507690371 | BCKDHA | c.678C>A (p.Ala226=) c.612C>A (p.Ala204=) n.307C>A n.804C>A c.780C>A (p.Ala260=) c.578C>A c.591C>A (p.Ala197=) n.306C>A | |
19 | g.41422195C>G | CA507690372 | BCKDHA | c.678C>G (p.Ala226=) c.612C>G (p.Ala204=) n.307C>G n.804C>G c.780C>G (p.Ala260=) c.578C>G c.591C>G (p.Ala197=) n.306C>G | |
19 | g.41422195C>T | CA507690373 | BCKDHA | c.678C>T (p.Ala226=) c.612C>T (p.Ala204=) n.307C>T n.804C>T c.780C>T (p.Ala260=) c.578C>T c.591C>T (p.Ala197=) n.306C>T | |
19 | g.41422196A>C | CA406012717 | BCKDHA | c.679A>C (p.Asn227His) c.613A>C (p.Asn205His) n.308A>C n.805A>C c.781A>C (p.Asn261His) c.579A>C c.592A>C (p.Asn198His) n.307A>C | |
19 | g.41422196A>G | CA406012718 | BCKDHA | c.679A>G (p.Asn227Asp) c.613A>G (p.Asn205Asp) n.308A>G n.805A>G c.781A>G (p.Asn261Asp) c.579A>G c.592A>G (p.Asn198Asp) n.307A>G | |
19 | g.41422196A>T | CA406012719 | BCKDHA | c.679A>T (p.Asn227Tyr) c.613A>T (p.Asn205Tyr) n.308A>T n.805A>T c.781A>T (p.Asn261Tyr) c.579A>T c.592A>T (p.Asn198Tyr) n.307A>T | |
19 | g.41422197A= | CA2336458995 | BCKDHA | c.680A= (p.Asn227=) c.614A= (p.Asn205=) n.309A= n.806A= c.782A= (p.Asn261=) c.580A= c.593A= (p.Asn198=) n.308A= | |
19 | g.41422197A>C | CA406012720 | BCKDHA | c.680A>C (p.Asn227Thr) c.614A>C (p.Asn205Thr) n.309A>C n.806A>C c.782A>C (p.Asn261Thr) c.580A>C c.593A>C (p.Asn198Thr) n.308A>C | |
19 | g.41422197A>G | CA308524076 | BCKDHA | c.680A>G (p.Asn227Ser) c.614A>G (p.Asn205Ser) n.309A>G n.806A>G c.782A>G (p.Asn261Ser) c.580A>G c.593A>G (p.Asn198Ser) n.308A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422197A>T | CA406012721 | BCKDHA | c.680A>T (p.Asn227Ile) c.614A>T (p.Asn205Ile) n.309A>T n.806A>T c.782A>T (p.Asn261Ile) c.580A>T c.593A>T (p.Asn198Ile) n.308A>T | |
19 | g.41422198T>A | CA406012722 | BCKDHA | c.681T>A (p.Asn227Lys) c.615T>A (p.Asn205Lys) n.310T>A n.807T>A c.783T>A (p.Asn261Lys) c.581T>A c.594T>A (p.Asn198Lys) n.309T>A | |
19 | g.41422198T>C | CA308524083 | BCKDHA | c.681T>C (p.Asn227=) c.615T>C (p.Asn205=) n.310T>C n.807T>C c.783T>C (p.Asn261=) c.581T>C c.594T>C (p.Asn198=) n.309T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422198T>G | CA406012723 | BCKDHA | c.681T>G (p.Asn227Lys) c.615T>G (p.Asn205Lys) n.310T>G n.807T>G c.783T>G (p.Asn261Lys) c.581T>G c.594T>G (p.Asn198Lys) n.309T>G | |
19 | g.41422198T= | CA2336458996 | BCKDHA | c.681T= (p.Asn227=) c.615T= (p.Asn205=) n.310T= n.807T= c.783T= (p.Asn261=) c.581T= c.594T= (p.Asn198=) n.309T= | |
19 | g.41422199G>A | CA406012724 | BCKDHA | c.682G>A (p.Ala228Thr) c.616G>A (p.Ala206Thr) n.311G>A n.808G>A c.784G>A (p.Ala262Thr) c.582G>A c.595G>A (p.Ala199Thr) n.310G>A | gnomAD v4 |
19 | g.41422199G>C | CA406012725 | BCKDHA | c.682G>C (p.Ala228Pro) c.616G>C (p.Ala206Pro) n.311G>C n.808G>C c.784G>C (p.Ala262Pro) c.582G>C c.595G>C (p.Ala199Pro) n.310G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422199G= | CA2336458997 | BCKDHA | c.682G= (p.Ala228=) c.616G= (p.Ala206=) n.311G= n.808G= c.784G= (p.Ala262=) c.582G= c.595G= (p.Ala199=) n.310G= | |
19 | g.41422199G>T | CA406012726 | BCKDHA | c.682G>T (p.Ala228Ser) c.616G>T (p.Ala206Ser) n.311G>T n.808G>T c.784G>T (p.Ala262Ser) c.582G>T c.595G>T (p.Ala199Ser) n.310G>T | |
19 | g.41422200C>A | CA406012727 | BCKDHA | c.683C>A (p.Ala228Asp) c.617C>A (p.Ala206Asp) n.312C>A n.809C>A c.785C>A (p.Ala262Asp) c.583C>A c.596C>A (p.Ala199Asp) n.311C>A | |
19 | g.41422200C= | CA2336458998 | BCKDHA | c.683C= (p.Ala228=) c.617C= (p.Ala206=) n.312C= n.809C= c.785C= (p.Ala262=) c.583C= c.596C= (p.Ala199=) n.311C= | |
19 | g.41422200C>G | CA308524094 | BCKDHA | c.683C>G (p.Ala228Gly) c.617C>G (p.Ala206Gly) n.312C>G n.809C>G c.785C>G (p.Ala262Gly) c.583C>G c.596C>G (p.Ala199Gly) n.311C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422200C>T | CA406012728 | BCKDHA | c.683C>T (p.Ala228Val) c.617C>T (p.Ala206Val) n.312C>T n.809C>T c.785C>T (p.Ala262Val) c.583C>T c.596C>T (p.Ala199Val) n.311C>T | |
19 | g.41422201C>A | CA507690387 | BCKDHA | c.684C>A (p.Ala228=) c.618C>A (p.Ala206=) n.313C>A n.810C>A c.786C>A (p.Ala262=) c.584C>A c.597C>A (p.Ala199=) n.312C>A | |
19 | g.41422201C= | CA2336458999 | BCKDHA | c.684C= (p.Ala228=) c.618C= (p.Ala206=) n.313C= n.810C= c.786C= (p.Ala262=) c.584C= c.597C= (p.Ala199=) n.312C= | |
19 | g.41422201C>G | CA507690388 | BCKDHA | c.684C>G (p.Ala228=) c.618C>G (p.Ala206=) n.313C>G n.810C>G c.786C>G (p.Ala262=) c.584C>G c.597C>G (p.Ala199=) n.312C>G | |
19 | g.41422201C>T | CA9461242 | BCKDHA | c.684C>T (p.Ala228=) c.618C>T (p.Ala206=) n.313C>T n.810C>T c.786C>T (p.Ala262=) c.584C>T c.597C>T (p.Ala199=) n.312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422202A= | CA2336459000 | BCKDHA | c.685A= (p.Asn229=) c.619A= (p.Asn207=) n.314A= n.811A= c.787A= (p.Asn263=) c.585A= c.598A= (p.Asn200=) n.313A= | |
19 | g.41422202A>C | CA406012729 | BCKDHA | c.685A>C (p.Asn229His) c.619A>C (p.Asn207His) n.314A>C n.811A>C c.787A>C (p.Asn263His) c.585A>C c.598A>C (p.Asn200His) n.313A>C | gnomAD v4 |
19 | g.41422202A>G | CA406012730 | BCKDHA | c.685A>G (p.Asn229Asp) c.619A>G (p.Asn207Asp) n.314A>G n.811A>G c.787A>G (p.Asn263Asp) c.585A>G c.598A>G (p.Asn200Asp) n.313A>G | gnomAD v4 |
19 | g.41422202A>T | CA9461243 | BCKDHA | c.685A>T (p.Asn229Tyr) c.619A>T (p.Asn207Tyr) n.314A>T n.811A>T c.787A>T (p.Asn263Tyr) c.585A>T c.598A>T (p.Asn200Tyr) n.313A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422203A>C | CA406012731 | BCKDHA | c.686A>C (p.Asn229Thr) c.620A>C (p.Asn207Thr) n.315A>C n.812A>C c.788A>C (p.Asn263Thr) c.586A>C c.599A>C (p.Asn200Thr) n.314A>C | |
19 | g.41422203A>G | CA406012732 | BCKDHA | c.686A>G (p.Asn229Ser) c.620A>G (p.Asn207Ser) n.315A>G n.812A>G c.788A>G (p.Asn263Ser) c.586A>G c.599A>G (p.Asn200Ser) n.314A>G | |
19 | g.41422203A>T | CA406012733 | BCKDHA | c.686A>T (p.Asn229Ile) c.620A>T (p.Asn207Ile) n.315A>T n.812A>T c.788A>T (p.Asn263Ile) c.586A>T c.599A>T (p.Asn200Ile) n.314A>T | |
19 | g.41422204C>A | CA406012735 | BCKDHA | c.687C>A (p.Asn229Lys) c.621C>A (p.Asn207Lys) n.316C>A n.813C>A c.789C>A (p.Asn263Lys) c.587C>A c.600C>A (p.Asn200Lys) n.315C>A | |
19 | g.41422204C>G | CA406012734 | BCKDHA | c.687C>G (p.Asn229Lys) c.621C>G (p.Asn207Lys) n.316C>G n.813C>G c.789C>G (p.Asn263Lys) c.587C>G c.600C>G (p.Asn200Lys) n.315C>G | |
19 | g.41422204C>T | CA507690394 | BCKDHA | c.687C>T (p.Asn229=) c.621C>T (p.Asn207=) n.316C>T n.813C>T c.789C>T (p.Asn263=) c.587C>T c.600C>T (p.Asn200=) n.315C>T | gnomAD v4 |
19 | g.41422205A= | CA2336459001 | BCKDHA | c.688A= (p.Arg230=) c.622A= (p.Arg208=) n.317A= n.814A= c.790A= (p.Arg264=) c.588A= c.601A= (p.Arg201=) n.316A= | |
19 | g.41422205A>C | CA507690396 | BCKDHA | c.688A>C (p.Arg230=) c.622A>C (p.Arg208=) n.317A>C n.814A>C c.790A>C (p.Arg264=) c.588A>C c.601A>C (p.Arg201=) n.316A>C | |
19 | g.41422205A>G | CA9461244 | BCKDHA | c.688A>G (p.Arg230Gly) c.622A>G (p.Arg208Gly) n.317A>G n.814A>G c.790A>G (p.Arg264Gly) c.588A>G c.601A>G (p.Arg201Gly) n.316A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422205A>T | CA406012736 | BCKDHA | c.688A>T (p.Arg230Trp) c.622A>T (p.Arg208Trp) n.317A>T n.814A>T c.790A>T (p.Arg264Trp) c.588A>T c.601A>T (p.Arg201Trp) n.316A>T | |
19 | g.41422206G>A | CA406012737 | BCKDHA | c.689G>A (p.Arg230Lys) c.623G>A (p.Arg208Lys) n.318G>A n.815G>A c.791G>A (p.Arg264Lys) c.589G>A c.602G>A (p.Arg201Lys) n.317G>A | |
19 | g.41422206G>C | CA308524127 | BCKDHA | c.689G>C (p.Arg230Thr) c.623G>C (p.Arg208Thr) n.318G>C n.815G>C c.791G>C (p.Arg264Thr) c.589G>C c.602G>C (p.Arg201Thr) n.317G>C | dbSNP |
19 | g.41422206G= | CA2336459002 | BCKDHA | c.689G= (p.Arg230=) c.623G= (p.Arg208=) n.318G= n.815G= c.791G= (p.Arg264=) c.589G= c.602G= (p.Arg201=) n.317G= | |
19 | g.41422206G>T | CA308524135 | BCKDHA | c.689G>T (p.Arg230Met) c.623G>T (p.Arg208Met) n.318G>T n.815G>T c.791G>T (p.Arg264Met) c.589G>T c.602G>T (p.Arg201Met) n.317G>T | dbSNP |
19 | g.41422208del | CA2814427390 | BCKDHA | c.691del (p.Val231SerfsTer?) c.625del (p.Val209SerfsTer?) n.320del c.793del (p.Val265SerfsTer?) c.591del c.604del (p.Val202SerfsTer?) n.319del | |
19 | g.41422207G>A | CA507690405 | BCKDHA | c.690G>A (p.Arg230=) c.624G>A (p.Arg208=) n.319G>A n.816G>A c.792G>A (p.Arg264=) c.590G>A c.603G>A (p.Arg201=) n.318G>A | |
19 | g.41422207G>C | CA406012738 | BCKDHA | c.690G>C (p.Arg230Ser) c.624G>C (p.Arg208Ser) n.319G>C n.816G>C c.792G>C (p.Arg264Ser) c.590G>C c.603G>C (p.Arg201Ser) n.318G>C | |
19 | g.41422207G= | CA2336459003 | BCKDHA | c.690G= (p.Arg230=) c.624G= (p.Arg208=) n.319G= n.816G= c.792G= (p.Arg264=) c.590G= c.603G= (p.Arg201=) n.318G= | |
19 | g.41422207G>T | CA308524141 | BCKDHA | c.690G>T (p.Arg230Ser) c.624G>T (p.Arg208Ser) n.319G>T n.816G>T c.792G>T (p.Arg264Ser) c.590G>T c.603G>T (p.Arg201Ser) n.318G>T | dbSNP gnomAD v4 |
19 | g.41422208G>A | CA406012739 | BCKDHA | c.691G>A (p.Val231Ile) c.625G>A (p.Val209Ile) n.320G>A c.793G>A (p.Val265Ile) c.591G>A c.604G>A (p.Val202Ile) n.319G>A | COSMIC |
19 | g.41422208G>C | CA406012740 | BCKDHA | c.691G>C (p.Val231Leu) c.625G>C (p.Val209Leu) n.320G>C c.793G>C (p.Val265Leu) c.591G>C c.604G>C (p.Val202Leu) n.319G>C | |
19 | g.41422208G>T | CA406012741 | BCKDHA | c.691G>T (p.Val231Phe) c.625G>T (p.Val209Phe) n.320G>T c.793G>T (p.Val265Phe) c.591G>T c.604G>T (p.Val202Phe) n.319G>T | ClinVar dbSNP gnomAD v4 |
19 | g.41422211_41422213del | CA2585307993 | BCKDHA | c.694_696del (p.Val232del) c.628_630del (p.Val210del) n.323_325del c.796_798del (p.Val266del) c.594_596del c.607_609del (p.Val203del) n.322_324del | gnomAD v4 |
19 | g.41422209T>A | CA406012742 | BCKDHA | c.692T>A (p.Val231Asp) c.626T>A (p.Val209Asp) n.321T>A c.794T>A (p.Val265Asp) c.592T>A c.605T>A (p.Val202Asp) n.320T>A | |
19 | g.41422209T>C | CA406012743 | BCKDHA | c.692T>C (p.Val231Ala) c.626T>C (p.Val209Ala) n.321T>C c.794T>C (p.Val265Ala) c.592T>C c.605T>C (p.Val202Ala) n.320T>C | |
19 | g.41422209T>G | CA406012744 | BCKDHA | c.692T>G (p.Val231Gly) c.626T>G (p.Val209Gly) n.321T>G c.794T>G (p.Val265Gly) c.592T>G c.605T>G (p.Val202Gly) n.320T>G | dbSNP |
19 | g.41422209T= | CA2336459004 | BCKDHA | c.692T= (p.Val231=) c.626T= (p.Val209=) n.321T= c.794T= (p.Val265=) c.592T= c.605T= (p.Val202=) n.320T= | |
19 | g.41422210C>A | CA507690408 | BCKDHA | c.693C>A (p.Val231=) c.627C>A (p.Val209=) n.322C>A c.795C>A (p.Val265=) c.593C>A c.606C>A (p.Val202=) n.321C>A | |
19 | g.41422210C= | CA2336459005 | BCKDHA | c.693C= (p.Val231=) c.627C= (p.Val209=) n.322C= c.795C= (p.Val265=) c.593C= c.606C= (p.Val202=) n.321C= | |
19 | g.41422210C>G | CA507690411 | BCKDHA | c.693C>G (p.Val231=) c.627C>G (p.Val209=) n.322C>G c.795C>G (p.Val265=) c.593C>G c.606C>G (p.Val202=) n.321C>G | gnomAD v4 |
19 | g.41422210C>T | CA9461245 | BCKDHA | c.693C>T (p.Val231=) c.627C>T (p.Val209=) n.322C>T c.795C>T (p.Val265=) c.593C>T c.606C>T (p.Val202=) n.321C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422211G>A | CA308524145 | BCKDHA | c.694G>A (p.Val232Ile) c.628G>A (p.Val210Ile) n.323G>A c.796G>A (p.Val266Ile) c.594G>A c.607G>A (p.Val203Ile) n.322G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422211G>C | CA406012745 | BCKDHA | c.694G>C (p.Val232Leu) c.628G>C (p.Val210Leu) n.323G>C c.796G>C (p.Val266Leu) c.594G>C c.607G>C (p.Val203Leu) n.322G>C | |
19 | g.41422211G= | CA2336459006 | BCKDHA | c.694G= (p.Val232=) c.628G= (p.Val210=) n.323G= c.796G= (p.Val266=) c.594G= c.607G= (p.Val203=) n.322G= | |
19 | g.41422211G>T | CA406012746 | BCKDHA | c.694G>T (p.Val232Phe) c.628G>T (p.Val210Phe) n.323G>T c.796G>T (p.Val266Phe) c.594G>T c.607G>T (p.Val203Phe) n.322G>T | |
19 | g.41422212T>A | CA406012747 | BCKDHA | c.695T>A (p.Val232Asp) c.629T>A (p.Val210Asp) n.324T>A c.797T>A (p.Val266Asp) c.595T>A c.608T>A (p.Val203Asp) n.323T>A | |
19 | g.41422212T>C | CA406012748 | BCKDHA | c.695T>C (p.Val232Ala) c.629T>C (p.Val210Ala) n.324T>C c.797T>C (p.Val266Ala) c.595T>C c.608T>C (p.Val203Ala) n.323T>C | gnomAD v4 |
19 | g.41422212T>G | CA406012749 | BCKDHA | c.695T>G (p.Val232Gly) c.629T>G (p.Val210Gly) n.324T>G c.797T>G (p.Val266Gly) c.595T>G c.608T>G (p.Val203Gly) n.323T>G | |
19 | g.41422212_41422213del | CA2580097291 | BCKDHA | c.695_696del (p.Val232AspfsTer11) c.629_630del (p.Val210AspfsTer11) n.324_325del c.797_798del (p.Val266AspfsTer11) c.595_596del c.608_609del (p.Val203AspfsTer11) n.323_324del | ClinVar |
19 | g.41422213C>A | CA507690423 | BCKDHA | c.696C>A (p.Val232=) c.630C>A (p.Val210=) n.325C>A c.798C>A (p.Val266=) c.596C>A c.609C>A (p.Val203=) n.324C>A | |
19 | g.41422213C>G | CA507690417 | BCKDHA | c.696C>G (p.Val232=) c.630C>G (p.Val210=) n.325C>G c.798C>G (p.Val266=) c.596C>G c.609C>G (p.Val203=) n.324C>G | |
19 | g.41422213C>T | CA507690420 | BCKDHA | c.696C>T (p.Val232=) c.630C>T (p.Val210=) n.325C>T c.798C>T (p.Val266=) c.596C>T c.609C>T (p.Val203=) n.324C>T | gnomAD v4 |
19 | g.41422214A>C | CA406012750 | BCKDHA | c.697A>C (p.Ile233Leu) c.631A>C (p.Ile211Leu) n.326A>C c.799A>C (p.Ile267Leu) c.597A>C c.610A>C (p.Ile204Leu) n.325A>C | |
19 | g.41422214A>G | CA406012751 | BCKDHA | c.697A>G (p.Ile233Val) c.631A>G (p.Ile211Val) n.326A>G c.799A>G (p.Ile267Val) c.597A>G c.610A>G (p.Ile204Val) n.325A>G | gnomAD v4 |
19 | g.41422214A>T | CA406012752 | BCKDHA | c.697A>T (p.Ile233Phe) c.631A>T (p.Ile211Phe) n.326A>T c.799A>T (p.Ile267Phe) c.597A>T c.610A>T (p.Ile204Phe) n.325A>T | |
19 | g.41422215T>A | CA406012753 | BCKDHA | c.698T>A (p.Ile233Asn) c.632T>A (p.Ile211Asn) n.327T>A c.800T>A (p.Ile267Asn) c.598T>A c.611T>A (p.Ile204Asn) n.326T>A | |
19 | g.41422215T>C | CA406012754 | BCKDHA | c.698T>C (p.Ile233Thr) c.632T>C (p.Ile211Thr) n.327T>C c.800T>C (p.Ile267Thr) c.598T>C c.611T>C (p.Ile204Thr) n.326T>C | |
19 | g.41422215T>G | CA406012755 | BCKDHA | c.698T>G (p.Ile233Ser) c.632T>G (p.Ile211Ser) n.327T>G c.800T>G (p.Ile267Ser) c.598T>G c.611T>G (p.Ile204Ser) n.326T>G | |
19 | g.41422216_41422217del | CA2580097292 | BCKDHA | c.699_700del (p.Ile233MetfsTer10) c.633_634del (p.Ile211MetfsTer10) n.328_329del c.801_802del (p.Ile267MetfsTer10) c.599_600del c.612_613del (p.Ile204MetfsTer10) n.327_328del | ClinVar gnomAD v4 |
19 | g.41422216C>A | CA507690429 | BCKDHA | c.699C>A (p.Ile233=) c.633C>A (p.Ile211=) n.328C>A c.801C>A (p.Ile267=) c.599C>A c.612C>A (p.Ile204=) n.327C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422216C= | CA2336459007 | BCKDHA | c.699C= (p.Ile233=) c.633C= (p.Ile211=) n.328C= c.801C= (p.Ile267=) c.599C= c.612C= (p.Ile204=) n.327C= | |
19 | g.41422216C>G | CA406012756 | BCKDHA | c.699C>G (p.Ile233Met) c.633C>G (p.Ile211Met) n.328C>G c.801C>G (p.Ile267Met) c.599C>G c.612C>G (p.Ile204Met) n.327C>G | |
19 | g.41422216C>T | CA507690430 | BCKDHA | c.699C>T (p.Ile233=) c.633C>T (p.Ile211=) n.328C>T c.801C>T (p.Ile267=) c.599C>T c.612C>T (p.Ile204=) n.327C>T | dbSNP gnomAD v4 |
19 | g.41422217T>A | CA406012757 | BCKDHA | c.700T>A (p.Cys234Ser) c.634T>A (p.Cys212Ser) n.329T>A c.802T>A (p.Cys268Ser) c.600T>A c.613T>A (p.Cys205Ser) n.328T>A | |
19 | g.41422217T>C | CA406012758 | BCKDHA | c.700T>C (p.Cys234Arg) c.634T>C (p.Cys212Arg) n.329T>C c.802T>C (p.Cys268Arg) c.600T>C c.613T>C (p.Cys205Arg) n.328T>C | |
19 | g.41422217T>G | CA406012759 | BCKDHA | c.700T>G (p.Cys234Gly) c.634T>G (p.Cys212Gly) n.329T>G c.802T>G (p.Cys268Gly) c.600T>G c.613T>G (p.Cys205Gly) n.328T>G | |
19 | g.41422218_41422219del | CA2499225496 | BCKDHA | c.701_702del (p.Cys234LeufsTer9) c.635_636del (p.Cys212LeufsTer9) n.330_331del c.803_804del (p.Cys268LeufsTer9) c.601_602del c.614_615del (p.Cys205LeufsTer9) n.329_330del | ClinVar dbSNP |
19 | g.41422218G>A | CA406012762 | BCKDHA | c.701G>A (p.Cys234Tyr) c.635G>A (p.Cys212Tyr) n.330G>A c.803G>A (p.Cys268Tyr) c.601G>A c.614G>A (p.Cys205Tyr) n.329G>A | |
19 | g.41422218G>C | CA406012761 | BCKDHA | c.701G>C (p.Cys234Ser) c.635G>C (p.Cys212Ser) n.330G>C c.803G>C (p.Cys268Ser) c.601G>C c.614G>C (p.Cys205Ser) n.329G>C | |
19 | g.41422218G>T | CA406012760 | BCKDHA | c.701G>T (p.Cys234Phe) c.635G>T (p.Cys212Phe) n.330G>T c.803G>T (p.Cys268Phe) c.601G>T c.614G>T (p.Cys205Phe) n.329G>T | |
19 | g.41422219T>A | CA406012763 | BCKDHA | c.702T>A (p.Cys234Ter) c.636T>A (p.Cys212Ter) n.331T>A c.804T>A (p.Cys268Ter) c.602T>A c.615T>A (p.Cys205Ter) n.330T>A | |
19 | g.41422219T>C | CA507690437 | BCKDHA | c.702T>C (p.Cys234=) c.636T>C (p.Cys212=) n.331T>C c.804T>C (p.Cys268=) c.602T>C c.615T>C (p.Cys205=) n.330T>C | |
19 | g.41422219T>G | CA406012764 | BCKDHA | c.702T>G (p.Cys234Trp) c.636T>G (p.Cys212Trp) n.331T>G c.804T>G (p.Cys268Trp) c.602T>G c.615T>G (p.Cys205Trp) n.330T>G | |
19 | g.41422220del | CA2695228766 | BCKDHA | c.703del (p.Tyr235ThrfsTer?) c.637del (p.Tyr213ThrfsTer?) n.332del c.805del (p.Tyr269ThrfsTer?) c.603del c.616del (p.Tyr206ThrfsTer?) n.331del | |
19 | g.41422220T>A | CA406012765 | BCKDHA | c.703T>A (p.Tyr235Asn) c.637T>A (p.Tyr213Asn) n.332T>A c.805T>A (p.Tyr269Asn) c.603T>A c.616T>A (p.Tyr206Asn) n.331T>A | |
19 | g.41422220T>C | CA406012766 | BCKDHA | c.703T>C (p.Tyr235His) c.637T>C (p.Tyr213His) n.332T>C c.805T>C (p.Tyr269His) c.603T>C c.616T>C (p.Tyr206His) n.331T>C | |
19 | g.41422220T>G | CA406012767 | BCKDHA | c.703T>G (p.Tyr235Asp) c.637T>G (p.Tyr213Asp) n.332T>G c.805T>G (p.Tyr269Asp) c.603T>G c.616T>G (p.Tyr206Asp) n.331T>G | |
19 | g.41422221A>C | CA406012768 | BCKDHA | c.704A>C (p.Tyr235Ser) c.638A>C (p.Tyr213Ser) n.333A>C c.806A>C (p.Tyr269Ser) c.604A>C c.617A>C (p.Tyr206Ser) n.332A>C | |
19 | g.41422221A>G | CA406012769 | BCKDHA | c.704A>G (p.Tyr235Cys) c.638A>G (p.Tyr213Cys) n.333A>G c.806A>G (p.Tyr269Cys) c.604A>G c.617A>G (p.Tyr206Cys) n.332A>G | |
19 | g.41422221A>T | CA406012770 | BCKDHA | c.704A>T (p.Tyr235Phe) c.638A>T (p.Tyr213Phe) n.333A>T c.806A>T (p.Tyr269Phe) c.604A>T c.617A>T (p.Tyr206Phe) n.332A>T | |
19 | g.41422222C>A | CA406012771 | BCKDHA | c.705C>A (p.Tyr235Ter) c.639C>A (p.Tyr213Ter) n.334C>A c.807C>A (p.Tyr269Ter) c.605C>A c.618C>A (p.Tyr206Ter) n.333C>A | dbSNP gnomAD v4 |
19 | g.41422222C= | CA2336459008 | BCKDHA | c.705C= (p.Tyr235=) c.639C= (p.Tyr213=) n.334C= c.807C= (p.Tyr269=) c.605C= c.618C= (p.Tyr206=) n.333C= | |
19 | g.41422222C>G | CA406012772 | BCKDHA | c.705C>G (p.Tyr235Ter) c.639C>G (p.Tyr213Ter) n.334C>G c.807C>G (p.Tyr269Ter) c.605C>G c.618C>G (p.Tyr206Ter) n.333C>G | |
19 | g.41422222C>T | CA507690443 | BCKDHA | c.705C>T (p.Tyr235=) c.639C>T (p.Tyr213=) n.334C>T c.807C>T (p.Tyr269=) c.605C>T c.618C>T (p.Tyr206=) n.333C>T | ClinVar dbSNP gnomAD v4 |