Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41422619_41422632delinsGTCCCCACAGCAGC | CA2336459195 | BCKDHA | c.854-10_857delinsGTCCCCACAGCAGC c.788-10_791delinsGTCCCCACAGCAGC n.483-10_486delinsGTCCCCACAGCAGC c.956-10_959delinsGTCCCCACAGCAGC c.767-10_770delinsGTCCCCACAGCAGC n.482-10_485delinsGTCCCCACAGCAGC c.854-13_854delinsGTCCCCACAGCAGC | |
19 | g.41422620_41422621delinsTC | CA2336459197 | BCKDHA | c.854-9_854-8delinsTC (n.854-9_854-8delinsTC) c.788-9_788-8delinsTC (n.788-9_788-8delinsTC) n.483-9_483-8delinsTC c.956-9_956-8delinsTC (n.956-9_956-8delinsTC) c.767-9_767-8delinsTC (n.767-9_767-8delinsTC) n.482-9_482-8delinsTC c.854-12_854-11delinsTC (n.854-12_854-11delinsTC) | |
19 | g.41422620_41422632del | CA2336459196 | BCKDHA | c.854-9_857del c.788-9_791del n.483-9_486del c.956-9_959del c.767-9_770del n.482-9_485del c.854-12_854del | dbSNP |
19 | g.41422621C= | CA2336459198 | BCKDHA | c.854-8C= (n.854-8C=) c.788-8C= (n.788-8C=) n.483-8C= c.956-8C= (n.956-8C=) c.767-8C= (n.767-8C=) n.482-8C= c.854-11C= (n.854-11C=) | |
19 | g.41422621C>T | CA308524656 | BCKDHA | c.854-8C>T (n.854-8C>T) c.788-8C>T (n.788-8C>T) n.483-8C>T c.956-8C>T (n.956-8C>T) c.767-8C>T (n.767-8C>T) n.482-8C>T c.854-11C>T (n.854-11C>T) | ClinVar dbSNP gnomAD v2 |
19 | g.41422624del | CA633470357 | BCKDHA | c.854-5del (n.854-5del) c.788-5del (n.788-5del) n.483-5del c.956-5del (n.956-5del) c.767-5del (n.767-5del) n.482-5del c.854-8del (n.854-8del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422623C>A | CA633470358 | BCKDHA | c.854-6C>A (n.854-6C>A) c.788-6C>A (n.788-6C>A) n.483-6C>A c.956-6C>A (n.956-6C>A) c.767-6C>A (n.767-6C>A) n.482-6C>A c.854-9C>A (n.854-9C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422623C= | CA2336459199 | BCKDHA | c.854-6C= (n.854-6C=) c.788-6C= (n.788-6C=) n.483-6C= c.956-6C= (n.956-6C=) c.767-6C= (n.767-6C=) n.482-6C= c.854-9C= (n.854-9C=) | |
19 | g.41422624C>T | CA2585308116 | BCKDHA | c.854-5C>T (n.854-5C>T) c.788-5C>T (n.788-5C>T) n.483-5C>T c.956-5C>T (n.956-5C>T) c.767-5C>T (n.767-5C>T) n.482-5C>T c.854-8C>T (n.854-8C>T) | gnomAD v4 |
19 | g.41422625A>G | CA2585308117 | BCKDHA | c.854-4A>G (n.854-4A>G) c.788-4A>G (n.788-4A>G) n.483-4A>G c.956-4A>G (n.956-4A>G) c.767-4A>G (n.767-4A>G) n.482-4A>G c.854-7A>G (n.854-7A>G) | gnomAD v4 |
19 | g.41422627A= | CA2336459200 | BCKDHA | c.854-2A= (n.854-2A=) c.788-2A= (n.788-2A=) n.483-2A= c.956-2A= (n.956-2A=) c.767-2A= (n.767-2A=) n.482-2A= c.854-5A= (n.854-5A=) | |
19 | g.41422627A>C | CA406013166 | BCKDHA | c.854-2A>C (n.854-2A>C) c.788-2A>C (n.788-2A>C) n.483-2A>C c.956-2A>C (n.956-2A>C) c.767-2A>C (n.767-2A>C) n.482-2A>C c.854-5A>C (n.854-5A>C) | |
19 | g.41422627A>G | CA9461288 | BCKDHA | c.854-2A>G (n.854-2A>G) c.788-2A>G (n.788-2A>G) n.483-2A>G c.956-2A>G (n.956-2A>G) c.767-2A>G (n.767-2A>G) n.482-2A>G c.854-5A>G (n.854-5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422627A>T | CA406013169 | BCKDHA | c.854-2A>T (n.854-2A>T) c.788-2A>T (n.788-2A>T) n.483-2A>T c.956-2A>T (n.956-2A>T) c.767-2A>T (n.767-2A>T) n.482-2A>T c.854-5A>T (n.854-5A>T) | |
19 | g.41422628G>A | CA406013172 | BCKDHA | c.854-1G>A (n.854-1G>A) c.788-1G>A (n.788-1G>A) n.483-1G>A c.956-1G>A (n.956-1G>A) c.767-1G>A (n.767-1G>A) n.482-1G>A c.854-4G>A (n.854-4G>A) | |
19 | g.41422628G>C | CA406013177 | BCKDHA | c.854-1G>C (n.854-1G>C) c.788-1G>C (n.788-1G>C) n.483-1G>C c.956-1G>C (n.956-1G>C) c.767-1G>C (n.767-1G>C) n.482-1G>C c.854-4G>C (n.854-4G>C) | |
19 | g.41422628G>T | CA406013178 | BCKDHA | c.854-1G>T (n.854-1G>T) c.788-1G>T (n.788-1G>T) n.483-1G>T c.956-1G>T (n.956-1G>T) c.767-1G>T (n.767-1G>T) n.482-1G>T c.854-4G>T (n.854-4G>T) | |
19 | g.41422629C>A | CA406013181 | BCKDHA | c.854C>A (p.Ala285Glu) c.788C>A (p.Ala263Glu) n.483C>A c.956C>A (p.Ala319Glu) c.767C>A (p.Ala256Glu) n.482C>A c.854-3C>A (n.854-3C>A) | |
19 | g.41422629C>G | CA406013179 | BCKDHA | c.854C>G (p.Ala285Gly) c.788C>G (p.Ala263Gly) n.483C>G c.956C>G (p.Ala319Gly) c.767C>G (p.Ala256Gly) n.482C>G c.854-3C>G (n.854-3C>G) | |
19 | g.41422629C>T | CA406013180 | BCKDHA | c.854C>T (p.Ala285Val) c.788C>T (p.Ala263Val) n.483C>T c.956C>T (p.Ala319Val) c.767C>T (p.Ala256Val) n.482C>T c.854-3C>T (n.854-3C>T) | |
19 | g.41422630A>C | CA507690598 | BCKDHA | c.855A>C (p.Ala285=) c.789A>C (p.Ala263=) n.484A>C c.957A>C (p.Ala319=) c.768A>C (p.Ala256=) n.483A>C c.854-2A>C (n.854-2A>C) | |
19 | g.41422630A>G | CA507690597 | BCKDHA | c.855A>G (p.Ala285=) c.789A>G (p.Ala263=) n.484A>G c.957A>G (p.Ala319=) c.768A>G (p.Ala256=) n.483A>G c.854-2A>G (n.854-2A>G) | |
19 | g.41422630A>T | CA507690596 | BCKDHA | c.855A>T (p.Ala285=) c.789A>T (p.Ala263=) n.484A>T c.957A>T (p.Ala319=) c.768A>T (p.Ala256=) n.483A>T c.854-2A>T (n.854-2A>T) | |
19 | g.41422631G>A | CA406013184 | BCKDHA | c.856G>A (p.Ala286Thr) c.790G>A (p.Ala264Thr) n.485G>A c.958G>A (p.Ala320Thr) c.769G>A (p.Ala257Thr) n.484G>A c.854-1G>A (n.854-1G>A) | |
19 | g.41422631G>C | CA406013186 | BCKDHA | c.856G>C (p.Ala286Pro) c.790G>C (p.Ala264Pro) n.485G>C c.958G>C (p.Ala320Pro) c.769G>C (p.Ala257Pro) n.484G>C c.854-1G>C (n.854-1G>C) | |
19 | g.41422631G>T | CA406013188 | BCKDHA | c.856G>T (p.Ala286Ser) c.790G>T (p.Ala264Ser) n.485G>T c.958G>T (p.Ala320Ser) c.769G>T (p.Ala257Ser) n.484G>T c.854-1G>T (n.854-1G>T) | |
19 | g.41422632C>A | CA406013192 | BCKDHA | c.857C>A (p.Ala286Glu) c.791C>A (p.Ala264Glu) n.486C>A c.959C>A (p.Ala320Glu) c.770C>A (p.Ala257Glu) n.485C>A c.854C>A (p.Ala285Glu) | |
19 | g.41422632C>G | CA406013195 | BCKDHA | c.857C>G (p.Ala286Gly) c.791C>G (p.Ala264Gly) n.486C>G c.959C>G (p.Ala320Gly) c.770C>G (p.Ala257Gly) n.485C>G c.854C>G (p.Ala285Gly) | |
19 | g.41422632C>T | CA406013197 | BCKDHA | c.857C>T (p.Ala286Val) c.791C>T (p.Ala264Val) n.486C>T c.959C>T (p.Ala320Val) c.770C>T (p.Ala257Val) n.485C>T c.854C>T (p.Ala285Val) | |
19 | g.41422633A>C | CA507690602 | BCKDHA | c.858A>C (p.Ala286=) c.792A>C (p.Ala264=) n.487A>C c.960A>C (p.Ala320=) c.771A>C (p.Ala257=) n.486A>C c.855A>C (p.Ala285=) | |
19 | g.41422633A>G | CA507690604 | BCKDHA | c.858A>G (p.Ala286=) c.792A>G (p.Ala264=) n.487A>G c.960A>G (p.Ala320=) c.771A>G (p.Ala257=) n.486A>G c.855A>G (p.Ala285=) | |
19 | g.41422633A>T | CA507690605 | BCKDHA | c.858A>T (p.Ala286=) c.792A>T (p.Ala264=) n.487A>T c.960A>T (p.Ala320=) c.771A>T (p.Ala257=) n.486A>T c.855A>T (p.Ala285=) | |
19 | g.41422633_41422641delinsACGAGGCCC | CA2336459201 | BCKDHA | c.858_866delinsACGAGGCCC (p.Ala286=) c.792_800delinsACGAGGCCC (p.Ala264=) n.487_495delinsACGAGGCCC c.960_968delinsACGAGGCCC (p.Ala320=) c.771_779delinsACGAGGCCC (p.Ala257=) n.486_494delinsACGAGGCCC c.855_863delinsACGAGGCCC (p.Ala285=) | |
19 | g.41422634C>A | CA507690606 | BCKDHA | c.859C>A (p.Arg287=) c.793C>A (p.Arg265=) n.488C>A c.961C>A (p.Arg321=) c.772C>A (p.Arg258=) n.487C>A c.856C>A (p.Arg286=) | |
19 | g.41422634C= | CA2336459202 | BCKDHA | c.859C= (p.Arg287=) c.793C= (p.Arg265=) n.488C= c.961C= (p.Arg321=) c.772C= (p.Arg258=) n.487C= c.856C= (p.Arg286=) | |
19 | g.41422634C>G | CA9461289 | BCKDHA | c.859C>G (p.Arg287Gly) c.793C>G (p.Arg265Gly) n.488C>G c.961C>G (p.Arg321Gly) c.772C>G (p.Arg258Gly) n.487C>G c.856C>G (p.Arg286Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422634C>T | CA9461290 | BCKDHA | c.859C>T (p.Arg287Ter) c.793C>T (p.Arg265Ter) n.488C>T c.961C>T (p.Arg321Ter) c.772C>T (p.Arg258Ter) n.487C>T c.856C>T (p.Arg286Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422636_41422643del | CA275390 | BCKDHA | c.861_868del (p.Gly288ValfsTer11) c.795_802del (p.Gly266ValfsTer11) n.490_497del c.963_970del (p.Gly322ValfsTer11) c.774_781del (p.Gly259ValfsTer11) n.489_496del c.858_865del (p.Gly287ValfsTer11) | ClinVar dbSNP gnomAD v4 |
19 | g.41422635G>A | CA9461291 | BCKDHA | c.860G>A (p.Arg287Gln) c.794G>A (p.Arg265Gln) n.489G>A c.962G>A (p.Arg321Gln) c.773G>A (p.Arg258Gln) n.488G>A c.857G>A (p.Arg286Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422635G>C | CA406013204 | BCKDHA | c.860G>C (p.Arg287Pro) c.794G>C (p.Arg265Pro) n.489G>C c.962G>C (p.Arg321Pro) c.773G>C (p.Arg258Pro) n.488G>C c.857G>C (p.Arg286Pro) | |
19 | g.41422635G= | CA2336459203 | BCKDHA | c.860G= (p.Arg287=) c.794G= (p.Arg265=) n.489G= c.962G= (p.Arg321=) c.773G= (p.Arg258=) n.488G= c.857G= (p.Arg286=) | |
19 | g.41422635G>T | CA406013206 | BCKDHA | c.860G>T (p.Arg287Leu) c.794G>T (p.Arg265Leu) n.489G>T c.962G>T (p.Arg321Leu) c.773G>T (p.Arg258Leu) n.488G>T c.857G>T (p.Arg286Leu) | |
19 | g.41422636A>C | CA507690609 | BCKDHA | c.861A>C (p.Arg287=) c.795A>C (p.Arg265=) n.490A>C c.963A>C (p.Arg321=) c.774A>C (p.Arg258=) n.489A>C c.858A>C (p.Arg286=) | |
19 | g.41422636A>G | CA507690611 | BCKDHA | c.861A>G (p.Arg287=) c.795A>G (p.Arg265=) n.490A>G c.963A>G (p.Arg321=) c.774A>G (p.Arg258=) n.489A>G c.858A>G (p.Arg286=) | |
19 | g.41422636A>T | CA507690613 | BCKDHA | c.861A>T (p.Arg287=) c.795A>T (p.Arg265=) n.490A>T c.963A>T (p.Arg321=) c.774A>T (p.Arg258=) n.489A>T c.858A>T (p.Arg286=) | |
19 | g.41422637G>A | CA406013212 | BCKDHA | c.862G>A (p.Gly288Ser) c.796G>A (p.Gly266Ser) n.491G>A c.964G>A (p.Gly322Ser) c.775G>A (p.Gly259Ser) n.490G>A c.859G>A (p.Gly287Ser) | |
19 | g.41422637G>C | CA406013214 | BCKDHA | c.862G>C (p.Gly288Arg) c.796G>C (p.Gly266Arg) n.491G>C c.964G>C (p.Gly322Arg) c.775G>C (p.Gly259Arg) n.490G>C c.859G>C (p.Gly287Arg) | |
19 | g.41422637G>T | CA406013210 | BCKDHA | c.862G>T (p.Gly288Cys) c.796G>T (p.Gly266Cys) n.491G>T c.964G>T (p.Gly322Cys) c.775G>T (p.Gly259Cys) n.490G>T c.859G>T (p.Gly287Cys) | |
19 | g.41422638G>A | CA406013220 | BCKDHA | c.863G>A (p.Gly288Asp) c.797G>A (p.Gly266Asp) n.492G>A c.965G>A (p.Gly322Asp) c.776G>A (p.Gly259Asp) n.491G>A c.860G>A (p.Gly287Asp) | |
19 | g.41422638G>C | CA406013216 | BCKDHA | c.863G>C (p.Gly288Ala) c.797G>C (p.Gly266Ala) n.492G>C c.965G>C (p.Gly322Ala) c.776G>C (p.Gly259Ala) n.491G>C c.860G>C (p.Gly287Ala) |