| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422310C>A | CA507690616 | BCKDHA | c.793C>A (p.Arg265=) c.727C>A (p.Arg243=) n.422C>A c.895C>A (p.Arg299=) c.706C>A (p.Arg236=) n.421C>A | |
| 19 | g.41422310C= | CA2336459054 | BCKDHA | c.793C= (p.Arg265=) c.727C= (p.Arg243=) n.422C= c.895C= (p.Arg299=) c.706C= (p.Arg236=) n.421C= | |
| 19 | g.41422310C>G | CA406012964 | BCKDHA | c.793C>G (p.Arg265Gly) c.727C>G (p.Arg243Gly) n.422C>G c.895C>G (p.Arg299Gly) c.706C>G (p.Arg236Gly) n.421C>G | |
| 19 | g.41422310C>T | CA115512 | BCKDHA | c.793C>T (p.Arg265Trp) c.727C>T (p.Arg243Trp) n.422C>T c.895C>T (p.Arg299Trp) c.706C>T (p.Arg236Trp) n.421C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422311G>A | CA308524323 | BCKDHA | c.794G>A (p.Arg265Gln) c.728G>A (p.Arg243Gln) n.423G>A c.896G>A (p.Arg299Gln) c.707G>A (p.Arg236Gln) n.422G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422311G>C | CA308524327 | BCKDHA | c.794G>C (p.Arg265Pro) c.728G>C (p.Arg243Pro) n.423G>C c.896G>C (p.Arg299Pro) c.707G>C (p.Arg236Pro) n.422G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422311G= | CA2336459055 | BCKDHA | c.794G= (p.Arg265=) c.728G= (p.Arg243=) n.423G= c.896G= (p.Arg299=) c.707G= (p.Arg236=) n.422G= | |
| 19 | g.41422311G>T | CA406012965 | BCKDHA | c.794G>T (p.Arg265Leu) c.728G>T (p.Arg243Leu) n.423G>T c.896G>T (p.Arg299Leu) c.707G>T (p.Arg236Leu) n.422G>T | |
| 19 | g.41422312del | CA2739290178 | BCKDHA | c.795del (p.Asn266ThrfsTer?) c.729del (p.Asn244ThrfsTer?) n.424del c.897del (p.Asn300ThrfsTer?) c.708del (p.Asn237ThrfsTer?) n.423del | |
| 19 | g.41422312G>A | CA507690625 | BCKDHA | c.795G>A (p.Arg265=) c.729G>A (p.Arg243=) n.424G>A c.897G>A (p.Arg299=) c.708G>A (p.Arg236=) n.423G>A | |
| 19 | g.41422312G>C | CA507690624 | BCKDHA | c.795G>C (p.Arg265=) c.729G>C (p.Arg243=) n.424G>C c.897G>C (p.Arg299=) c.708G>C (p.Arg236=) n.423G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422312G= | CA2336459057 | BCKDHA | c.795G= (p.Arg265=) c.729G= (p.Arg243=) n.424G= c.897G= (p.Arg299=) c.708G= (p.Arg236=) n.423G= | |
| 19 | g.41422312G>T | CA507690623 | BCKDHA | c.795G>T (p.Arg265=) c.729G>T (p.Arg243=) n.424G>T c.897G>T (p.Arg299=) c.708G>T (p.Arg236=) n.423G>T | |
| 19 | g.41422312_41422313delinsGA | CA2336459056 | BCKDHA | c.795_796delinsGA (p.Arg265=) c.729_730delinsGA (p.Arg243=) n.424_425delinsGA c.897_898delinsGA (p.Arg299=) c.708_709delinsGA (p.Arg236=) n.423_424delinsGA | |
| 19 | g.41422313A>C | CA406012966 | BCKDHA | c.796A>C (p.Asn266His) c.730A>C (p.Asn244His) n.425A>C c.898A>C (p.Asn300His) c.709A>C (p.Asn237His) n.424A>C | |
| 19 | g.41422313A>G | CA406012967 | BCKDHA | c.796A>G (p.Asn266Asp) c.730A>G (p.Asn244Asp) n.425A>G c.898A>G (p.Asn300Asp) c.709A>G (p.Asn237Asp) n.424A>G | |
| 19 | g.41422313A>T | CA406012968 | BCKDHA | c.796A>T (p.Asn266Tyr) c.730A>T (p.Asn244Tyr) n.425A>T c.898A>T (p.Asn300Tyr) c.709A>T (p.Asn237Tyr) n.424A>T | |
| 19 | g.41422313_41422314delinsT | CA2739276836 | BCKDHA | c.796_797delinsT (p.Asn266SerfsTer?) c.730_731delinsT (p.Asn244SerfsTer?) n.425_426delinsT c.898_899delinsT (p.Asn300SerfsTer?) c.709_710delinsT (p.Asn237SerfsTer?) n.424_425delinsT | ClinVar |
| 19 | g.41422314del | CA9461258 | BCKDHA | c.797del (p.Asn266ThrfsTer?) c.731del (p.Asn244ThrfsTer?) n.426del c.899del (p.Asn300ThrfsTer?) c.710del (p.Asn237ThrfsTer?) n.425del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422314A= | CA2336459058 | BCKDHA | c.797A= (p.Asn266=) c.731A= (p.Asn244=) n.426A= c.899A= (p.Asn300=) c.710A= (p.Asn237=) n.425A= | |
| 19 | g.41422314A>C | CA406012969 | BCKDHA | c.797A>C (p.Asn266Thr) c.731A>C (p.Asn244Thr) n.426A>C c.899A>C (p.Asn300Thr) c.710A>C (p.Asn237Thr) n.425A>C | |
| 19 | g.41422314A>G | CA406012970 | BCKDHA | c.797A>G (p.Asn266Ser) c.731A>G (p.Asn244Ser) n.426A>G c.899A>G (p.Asn300Ser) c.710A>G (p.Asn237Ser) n.425A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422314A>T | CA9461259 | BCKDHA | c.797A>T (p.Asn266Ile) c.731A>T (p.Asn244Ile) n.426A>T c.899A>T (p.Asn300Ile) c.710A>T (p.Asn237Ile) n.425A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422314_41422315delinsT | CA2695198207 | BCKDHA | c.797_798delinsT (p.Asn266IlefsTer?) c.731_732delinsT (p.Asn244IlefsTer?) n.426_427delinsT c.899_900delinsT (p.Asn300IlefsTer?) c.710_711delinsT (p.Asn237IlefsTer?) n.425_426delinsT | ClinVar |
| 19 | g.41422315C>A | CA406012971 | BCKDHA | c.798C>A (p.Asn266Lys) c.732C>A (p.Asn244Lys) n.427C>A c.900C>A (p.Asn300Lys) c.711C>A (p.Asn237Lys) n.426C>A | gnomAD v4 |
| 19 | g.41422315C= | CA2336459059 | BCKDHA | c.798C= (p.Asn266=) c.732C= (p.Asn244=) n.427C= c.900C= (p.Asn300=) c.711C= (p.Asn237=) n.426C= | |
| 19 | g.41422315C>G | CA406012972 | BCKDHA | c.798C>G (p.Asn266Lys) c.732C>G (p.Asn244Lys) n.427C>G c.900C>G (p.Asn300Lys) c.711C>G (p.Asn237Lys) n.426C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422315C>T | CA9461260 | BCKDHA | c.798C>T (p.Asn266=) c.732C>T (p.Asn244=) n.427C>T c.900C>T (p.Asn300=) c.711C>T (p.Asn237=) n.426C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422316A>C | CA406012975 | BCKDHA | c.799A>C (p.Asn267His) c.733A>C (p.Asn245His) n.428A>C c.901A>C (p.Asn301His) c.712A>C (p.Asn238His) n.427A>C | |
| 19 | g.41422316A>G | CA406012974 | BCKDHA | c.799A>G (p.Asn267Asp) c.733A>G (p.Asn245Asp) n.428A>G c.901A>G (p.Asn301Asp) c.712A>G (p.Asn238Asp) n.427A>G | |
| 19 | g.41422316A>T | CA406012973 | BCKDHA | c.799A>T (p.Asn267Tyr) c.733A>T (p.Asn245Tyr) n.428A>T c.901A>T (p.Asn301Tyr) c.712A>T (p.Asn238Tyr) n.427A>T | |
| 19 | g.41422317A= | CA2336459060 | BCKDHA | c.800A= (p.Asn267=) c.734A= (p.Asn245=) n.429A= c.902A= (p.Asn301=) c.713A= (p.Asn238=) n.428A= | |
| 19 | g.41422317A>C | CA406012977 | BCKDHA | c.800A>C (p.Asn267Thr) c.734A>C (p.Asn245Thr) n.429A>C c.902A>C (p.Asn301Thr) c.713A>C (p.Asn238Thr) n.428A>C | |
| 19 | g.41422317A>G | CA406012979 | BCKDHA | c.800A>G (p.Asn267Ser) c.734A>G (p.Asn245Ser) n.429A>G c.902A>G (p.Asn301Ser) c.713A>G (p.Asn238Ser) n.428A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422317A>T | CA406012978 | BCKDHA | c.800A>T (p.Asn267Ile) c.734A>T (p.Asn245Ile) n.429A>T c.902A>T (p.Asn301Ile) c.713A>T (p.Asn238Ile) n.428A>T | |
| 19 | g.41422318T>A | CA406012980 | BCKDHA | c.801T>A (p.Asn267Lys) c.735T>A (p.Asn245Lys) n.430T>A c.903T>A (p.Asn301Lys) c.714T>A (p.Asn238Lys) n.429T>A | |
| 19 | g.41422318T>C | CA507690627 | BCKDHA | c.801T>C (p.Asn267=) c.735T>C (p.Asn245=) n.430T>C c.903T>C (p.Asn301=) c.714T>C (p.Asn238=) n.429T>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422318T>G | CA406012981 | BCKDHA | c.801T>G (p.Asn267Lys) c.735T>G (p.Asn245Lys) n.430T>G c.903T>G (p.Asn301Lys) c.714T>G (p.Asn238Lys) n.429T>G | |
| 19 | g.41422318T= | CA2336459061 | BCKDHA | c.801T= (p.Asn267=) c.735T= (p.Asn245=) n.430T= c.903T= (p.Asn301=) c.714T= (p.Asn238=) n.429T= | |
| 19 | g.41422319G>A | CA406012982 | BCKDHA | c.802G>A (p.Gly268Ser) c.736G>A (p.Gly246Ser) n.431G>A c.904G>A (p.Gly302Ser) c.715G>A (p.Gly239Ser) n.430G>A | |
| 19 | g.41422319G>C | CA406012983 | BCKDHA | c.802G>C (p.Gly268Arg) c.736G>C (p.Gly246Arg) n.431G>C c.904G>C (p.Gly302Arg) c.715G>C (p.Gly239Arg) n.430G>C | |
| 19 | g.41422319G>T | CA406012984 | BCKDHA | c.802G>T (p.Gly268Cys) c.736G>T (p.Gly246Cys) n.431G>T c.904G>T (p.Gly302Cys) c.715G>T (p.Gly239Cys) n.430G>T | |
| 19 | g.41422320G>A | CA406012985 | BCKDHA | c.803G>A (p.Gly268Asp) c.737G>A (p.Gly246Asp) n.432G>A c.905G>A (p.Gly302Asp) c.716G>A (p.Gly239Asp) n.431G>A | |
| 19 | g.41422320G>C | CA406012986 | BCKDHA | c.803G>C (p.Gly268Ala) c.737G>C (p.Gly246Ala) n.432G>C c.905G>C (p.Gly302Ala) c.716G>C (p.Gly239Ala) n.431G>C | |
| 19 | g.41422320G>T | CA406012987 | BCKDHA | c.803G>T (p.Gly268Val) c.737G>T (p.Gly246Val) n.432G>T c.905G>T (p.Gly302Val) c.716G>T (p.Gly239Val) n.431G>T | |
| 19 | g.41422321C>A | CA507690629 | BCKDHA | c.804C>A (p.Gly268=) c.738C>A (p.Gly246=) n.433C>A c.906C>A (p.Gly302=) c.717C>A (p.Gly239=) n.432C>A | |
| 19 | g.41422321C>G | CA507690630 | BCKDHA | c.804C>G (p.Gly268=) c.738C>G (p.Gly246=) n.433C>G c.906C>G (p.Gly302=) c.717C>G (p.Gly239=) n.432C>G | |
| 19 | g.41422321C>T | CA507690631 | BCKDHA | c.804C>T (p.Gly268=) c.738C>T (p.Gly246=) n.433C>T c.906C>T (p.Gly302=) c.717C>T (p.Gly239=) n.432C>T | |
| 19 | g.41422322T>A | CA406012988 | BCKDHA | c.805T>A (p.Tyr269Asn) c.739T>A (p.Tyr247Asn) n.434T>A c.907T>A (p.Tyr303Asn) c.718T>A (p.Tyr240Asn) n.433T>A | |
| 19 | g.41422322T>C | CA406012989 | BCKDHA | c.805T>C (p.Tyr269His) c.739T>C (p.Tyr247His) n.434T>C c.907T>C (p.Tyr303His) c.718T>C (p.Tyr240His) n.433T>C |