Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
19 | g.41422322T>G | CA406012990 | BCKDHA | c.805T>G (p.Tyr269Asp) c.739T>G (p.Tyr247Asp) n.434T>G c.907T>G (p.Tyr303Asp) c.718T>G (p.Tyr240Asp) n.433T>G | |
19 | g.41422323A>C | CA406012991 | BCKDHA | c.806A>C (p.Tyr269Ser) c.740A>C (p.Tyr247Ser) n.435A>C c.908A>C (p.Tyr303Ser) c.719A>C (p.Tyr240Ser) n.434A>C | |
19 | g.41422323A>G | CA406012992 | BCKDHA | c.806A>G (p.Tyr269Cys) c.740A>G (p.Tyr247Cys) n.435A>G c.908A>G (p.Tyr303Cys) c.719A>G (p.Tyr240Cys) n.434A>G | |
19 | g.41422323A>T | CA406012993 | BCKDHA | c.806A>T (p.Tyr269Phe) c.740A>T (p.Tyr247Phe) n.435A>T c.908A>T (p.Tyr303Phe) c.719A>T (p.Tyr240Phe) n.434A>T | |
19 | g.41422324C>A | CA9461261 | BCKDHA | c.807C>A (p.Tyr269Ter) c.741C>A (p.Tyr247Ter) n.436C>A c.909C>A (p.Tyr303Ter) c.720C>A (p.Tyr240Ter) n.435C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422324C= | CA2336459062 | BCKDHA | c.807C= (p.Tyr269=) c.741C= (p.Tyr247=) n.436C= c.909C= (p.Tyr303=) c.720C= (p.Tyr240=) n.435C= | |
19 | g.41422324C>G | CA406012994 | BCKDHA | c.807C>G (p.Tyr269Ter) c.741C>G (p.Tyr247Ter) n.436C>G c.909C>G (p.Tyr303Ter) c.720C>G (p.Tyr240Ter) n.435C>G | |
19 | g.41422324C>T | CA9461262 | BCKDHA | c.807C>T (p.Tyr269=) c.741C>T (p.Tyr247=) n.436C>T c.909C>T (p.Tyr303=) c.720C>T (p.Tyr240=) n.435C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422325G>A | CA9461263 | BCKDHA | c.808G>A (p.Ala270Thr) c.742G>A (p.Ala248Thr) n.437G>A c.910G>A (p.Ala304Thr) c.721G>A (p.Ala241Thr) n.436G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422325G>C | CA406012996 | BCKDHA | c.808G>C (p.Ala270Pro) c.742G>C (p.Ala248Pro) n.437G>C c.910G>C (p.Ala304Pro) c.721G>C (p.Ala241Pro) n.436G>C | |
19 | g.41422325G= | CA2336459063 | BCKDHA | c.808G= (p.Ala270=) c.742G= (p.Ala248=) n.437G= c.910G= (p.Ala304=) c.721G= (p.Ala241=) n.436G= | |
19 | g.41422325G>T | CA406012998 | BCKDHA | c.808G>T (p.Ala270Ser) c.742G>T (p.Ala248Ser) n.437G>T c.910G>T (p.Ala304Ser) c.721G>T (p.Ala241Ser) n.436G>T | |
19 | g.41422326C>A | CA406012999 | BCKDHA | c.809C>A (p.Ala270Asp) c.743C>A (p.Ala248Asp) n.438C>A c.911C>A (p.Ala304Asp) c.722C>A (p.Ala241Asp) n.437C>A | |
19 | g.41422326C>G | CA406013000 | BCKDHA | c.809C>G (p.Ala270Gly) c.743C>G (p.Ala248Gly) n.438C>G c.911C>G (p.Ala304Gly) c.722C>G (p.Ala241Gly) n.437C>G | |
19 | g.41422326C>T | CA406013001 | BCKDHA | c.809C>T (p.Ala270Val) c.743C>T (p.Ala248Val) n.438C>T c.911C>T (p.Ala304Val) c.722C>T (p.Ala241Val) n.437C>T | |
19 | g.41422327dup | CA2838226220 | BCKDHA | c.810dup (p.Ile271HisfsTer7) c.744dup (p.Ile249HisfsTer7) n.439dup c.912dup (p.Ile305HisfsTer7) c.723dup (p.Ile242HisfsTer7) n.438dup | |
19 | g.41422327C>A | CA507690635 | BCKDHA | c.810C>A (p.Ala270=) c.744C>A (p.Ala248=) n.439C>A c.912C>A (p.Ala304=) c.723C>A (p.Ala241=) n.438C>A | |
19 | g.41422327C= | CA2336459064 | BCKDHA | c.810C= (p.Ala270=) c.744C= (p.Ala248=) n.439C= c.912C= (p.Ala304=) c.723C= (p.Ala241=) n.438C= | |
19 | g.41422327C>G | CA507690636 | BCKDHA | c.810C>G (p.Ala270=) c.744C>G (p.Ala248=) n.439C>G c.912C>G (p.Ala304=) c.723C>G (p.Ala241=) n.438C>G | |
19 | g.41422327C>T | CA507690637 | BCKDHA | c.810C>T (p.Ala270=) c.744C>T (p.Ala248=) n.439C>T c.912C>T (p.Ala304=) c.723C>T (p.Ala241=) n.438C>T | ClinVar dbSNP |
19 | g.41422328A>C | CA406013002 | BCKDHA | c.811A>C (p.Ile271Leu) c.745A>C (p.Ile249Leu) n.440A>C c.913A>C (p.Ile305Leu) c.724A>C (p.Ile242Leu) n.439A>C | |
19 | g.41422328A>G | CA406013003 | BCKDHA | c.811A>G (p.Ile271Val) c.745A>G (p.Ile249Val) n.440A>G c.913A>G (p.Ile305Val) c.724A>G (p.Ile242Val) n.439A>G | |
19 | g.41422328A>T | CA406013004 | BCKDHA | c.811A>T (p.Ile271Phe) c.745A>T (p.Ile249Phe) n.440A>T c.913A>T (p.Ile305Phe) c.724A>T (p.Ile242Phe) n.439A>T | |
19 | g.41422329T>A | CA406013006 | BCKDHA | c.812T>A (p.Ile271Asn) c.746T>A (p.Ile249Asn) n.441T>A c.914T>A (p.Ile305Asn) c.725T>A (p.Ile242Asn) n.440T>A | |
19 | g.41422329T>C | CA406013007 | BCKDHA | c.812T>C (p.Ile271Thr) c.746T>C (p.Ile249Thr) n.441T>C c.914T>C (p.Ile305Thr) c.725T>C (p.Ile242Thr) n.440T>C | |
19 | g.41422329T>G | CA406013005 | BCKDHA | c.812T>G (p.Ile271Ser) c.746T>G (p.Ile249Ser) n.441T>G c.914T>G (p.Ile305Ser) c.725T>G (p.Ile242Ser) n.440T>G | |
19 | g.41422330C>A | CA507690638 | BCKDHA | c.813C>A (p.Ile271=) c.747C>A (p.Ile249=) n.442C>A c.915C>A (p.Ile305=) c.726C>A (p.Ile242=) n.441C>A | gnomAD v4 |
19 | g.41422330C>G | CA406013008 | BCKDHA | c.813C>G (p.Ile271Met) c.747C>G (p.Ile249Met) n.442C>G c.915C>G (p.Ile305Met) c.726C>G (p.Ile242Met) n.441C>G | |
19 | g.41422330C>T | CA507690639 | BCKDHA | c.813C>T (p.Ile271=) c.747C>T (p.Ile249=) n.442C>T c.915C>T (p.Ile305=) c.726C>T (p.Ile242=) n.441C>T | |
19 | g.41422331T>A | CA406013009 | BCKDHA | c.814T>A (p.Ser272Thr) c.748T>A (p.Ser250Thr) n.443T>A c.916T>A (p.Ser306Thr) c.727T>A (p.Ser243Thr) n.442T>A | |
19 | g.41422331T>C | CA406013010 | BCKDHA | c.814T>C (p.Ser272Pro) c.748T>C (p.Ser250Pro) n.443T>C c.916T>C (p.Ser306Pro) c.727T>C (p.Ser243Pro) n.442T>C | |
19 | g.41422331T>G | CA406013011 | BCKDHA | c.814T>G (p.Ser272Ala) c.748T>G (p.Ser250Ala) n.443T>G c.916T>G (p.Ser306Ala) c.727T>G (p.Ser243Ala) n.442T>G | |
19 | g.41422332C>A | CA406013012 | BCKDHA | c.815C>A (p.Ser272Tyr) c.749C>A (p.Ser250Tyr) n.444C>A c.917C>A (p.Ser306Tyr) c.728C>A (p.Ser243Tyr) n.443C>A | |
19 | g.41422332C>G | CA406013013 | BCKDHA | c.815C>G (p.Ser272Cys) c.749C>G (p.Ser250Cys) n.444C>G c.917C>G (p.Ser306Cys) c.728C>G (p.Ser243Cys) n.443C>G | |
19 | g.41422332C>T | CA406013014 | BCKDHA | c.815C>T (p.Ser272Phe) c.749C>T (p.Ser250Phe) n.444C>T c.917C>T (p.Ser306Phe) c.728C>T (p.Ser243Phe) n.443C>T | COSMIC |
19 | g.41422333C>A | CA507690644 | BCKDHA | c.816C>A (p.Ser272=) c.750C>A (p.Ser250=) n.445C>A c.918C>A (p.Ser306=) c.729C>A (p.Ser243=) n.444C>A | |
19 | g.41422333C>G | CA507690642 | BCKDHA | c.816C>G (p.Ser272=) c.750C>G (p.Ser250=) n.445C>G c.918C>G (p.Ser306=) c.729C>G (p.Ser243=) n.444C>G | ClinVar |
19 | g.41422333C>T | CA507690643 | BCKDHA | c.816C>T (p.Ser272=) c.750C>T (p.Ser250=) n.445C>T c.918C>T (p.Ser306=) c.729C>T (p.Ser243=) n.444C>T | gnomAD v4 |
19 | g.41422334A= | CA2336459065 | BCKDHA | c.817A= (p.Thr273=) c.751A= (p.Thr251=) n.446A= c.919A= (p.Thr307=) c.730A= (p.Thr244=) n.445A= | |
19 | g.41422334A>C | CA406013015 | BCKDHA | c.817A>C (p.Thr273Pro) c.751A>C (p.Thr251Pro) n.446A>C c.919A>C (p.Thr307Pro) c.730A>C (p.Thr244Pro) n.445A>C | gnomAD v4 |
19 | g.41422334A>G | CA221217 | BCKDHA | c.817A>G (p.Thr273Ala) c.751A>G (p.Thr251Ala) n.446A>G c.919A>G (p.Thr307Ala) c.730A>G (p.Thr244Ala) n.445A>G | ClinVar dbSNP |
19 | g.41422334A>T | CA406013016 | BCKDHA | c.817A>T (p.Thr273Ser) c.751A>T (p.Thr251Ser) n.446A>T c.919A>T (p.Thr307Ser) c.730A>T (p.Thr244Ser) n.445A>T | gnomAD v4 |
19 | g.41422335C>A | CA406013017 | BCKDHA | c.818C>A (p.Thr273Lys) c.752C>A (p.Thr251Lys) n.447C>A c.920C>A (p.Thr307Lys) c.731C>A (p.Thr244Lys) n.446C>A | |
19 | g.41422335C= | CA2336459066 | BCKDHA | c.818C= (p.Thr273=) c.752C= (p.Thr251=) n.447C= c.920C= (p.Thr307=) c.731C= (p.Thr244=) n.446C= | |
19 | g.41422335C>G | CA406013018 | BCKDHA | c.818C>G (p.Thr273Arg) c.752C>G (p.Thr251Arg) n.447C>G c.920C>G (p.Thr307Arg) c.731C>G (p.Thr244Arg) n.446C>G | |
19 | g.41422335C>T | CA406013019 | BCKDHA | c.818C>T (p.Thr273Met) c.752C>T (p.Thr251Met) n.447C>T c.920C>T (p.Thr307Met) c.731C>T (p.Thr244Met) n.446C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422336G>A | CA9461265 | BCKDHA | c.819G>A (p.Thr273=) c.753G>A (p.Thr251=) n.448G>A c.921G>A (p.Thr307=) c.732G>A (p.Thr244=) n.447G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41422336G>C | CA507690645 | BCKDHA | c.819G>C (p.Thr273=) c.753G>C (p.Thr251=) n.448G>C c.921G>C (p.Thr307=) c.732G>C (p.Thr244=) n.447G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422336G= | CA2336459067 | BCKDHA | c.819G= (p.Thr273=) c.753G= (p.Thr251=) n.448G= c.921G= (p.Thr307=) c.732G= (p.Thr244=) n.447G= | |
19 | g.41422336G>T | CA9461264 | BCKDHA | c.819G>T (p.Thr273=) c.753G>T (p.Thr251=) n.448G>T c.921G>T (p.Thr307=) c.732G>T (p.Thr244=) n.447G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422337C>A | CA406013020 | BCKDHA | c.820C>A (p.Pro274Thr) c.754C>A (p.Pro252Thr) n.449C>A c.922C>A (p.Pro308Thr) c.733C>A (p.Pro245Thr) n.448C>A | |
19 | g.41422337C>G | CA406013021 | BCKDHA | c.820C>G (p.Pro274Ala) c.754C>G (p.Pro252Ala) n.449C>G c.922C>G (p.Pro308Ala) c.733C>G (p.Pro245Ala) n.448C>G | |
19 | g.41422337C>T | CA406013022 | BCKDHA | c.820C>T (p.Pro274Ser) c.754C>T (p.Pro252Ser) n.449C>T c.922C>T (p.Pro308Ser) c.733C>T (p.Pro245Ser) n.448C>T | |
19 | g.41422338C>A | CA406013023 | BCKDHA | c.821C>A (p.Pro274His) c.755C>A (p.Pro252His) n.450C>A c.923C>A (p.Pro308His) c.734C>A (p.Pro245His) n.449C>A | |
19 | g.41422338C>G | CA406013024 | BCKDHA | c.821C>G (p.Pro274Arg) c.755C>G (p.Pro252Arg) n.450C>G c.923C>G (p.Pro308Arg) c.734C>G (p.Pro245Arg) n.449C>G | |
19 | g.41422338C>T | CA406013025 | BCKDHA | c.821C>T (p.Pro274Leu) c.755C>T (p.Pro252Leu) n.450C>T c.923C>T (p.Pro308Leu) c.734C>T (p.Pro245Leu) n.449C>T | gnomAD v4 |
19 | g.41422339C>A | CA507690647 | BCKDHA | c.822C>A (p.Pro274=) c.756C>A (p.Pro252=) n.451C>A c.924C>A (p.Pro308=) c.735C>A (p.Pro245=) n.450C>A | |
19 | g.41422339C>G | CA507690648 | BCKDHA | c.822C>G (p.Pro274=) c.756C>G (p.Pro252=) n.451C>G c.924C>G (p.Pro308=) c.735C>G (p.Pro245=) n.450C>G | |
19 | g.41422339C>T | CA507690649 | BCKDHA | c.822C>T (p.Pro274=) c.756C>T (p.Pro252=) n.451C>T c.924C>T (p.Pro308=) c.735C>T (p.Pro245=) n.450C>T | ClinVar dbSNP |
19 | g.41422340A>C | CA406013027 | BCKDHA | c.823A>C (p.Thr275Pro) c.757A>C (p.Thr253Pro) n.452A>C c.925A>C (p.Thr309Pro) c.736A>C (p.Thr246Pro) n.451A>C | |
19 | g.41422340A>G | CA406013028 | BCKDHA | c.823A>G (p.Thr275Ala) c.757A>G (p.Thr253Ala) n.452A>G c.925A>G (p.Thr309Ala) c.736A>G (p.Thr246Ala) n.451A>G | |
19 | g.41422340A>T | CA406013029 | BCKDHA | c.823A>T (p.Thr275Ser) c.757A>T (p.Thr253Ser) n.452A>T c.925A>T (p.Thr309Ser) c.736A>T (p.Thr246Ser) n.451A>T | |
19 | g.41422341C>A | CA406013030 | BCKDHA | c.824C>A (p.Thr275Asn) c.758C>A (p.Thr253Asn) n.453C>A c.926C>A (p.Thr309Asn) c.737C>A (p.Thr246Asn) n.452C>A | |
19 | g.41422341C>G | CA406013031 | BCKDHA | c.824C>G (p.Thr275Ser) c.758C>G (p.Thr253Ser) n.453C>G c.926C>G (p.Thr309Ser) c.737C>G (p.Thr246Ser) n.452C>G | |
19 | g.41422341C>T | CA406013032 | BCKDHA | c.824C>T (p.Thr275Ile) c.758C>T (p.Thr253Ile) n.453C>T c.926C>T (p.Thr309Ile) c.737C>T (p.Thr246Ile) n.452C>T | gnomAD v4 |
19 | g.41422342C>A | CA507690651 | BCKDHA | c.825C>A (p.Thr275=) c.759C>A (p.Thr253=) n.454C>A c.927C>A (p.Thr309=) c.738C>A (p.Thr246=) n.453C>A | |
19 | g.41422342C= | CA2336459068 | BCKDHA | c.825C= (p.Thr275=) c.759C= (p.Thr253=) n.454C= c.927C= (p.Thr309=) c.738C= (p.Thr246=) n.453C= | |
19 | g.41422342C>G | CA507690652 | BCKDHA | c.825C>G (p.Thr275=) c.759C>G (p.Thr253=) n.454C>G c.927C>G (p.Thr309=) c.738C>G (p.Thr246=) n.453C>G | |
19 | g.41422342C>T | CA507690653 | BCKDHA | c.825C>T (p.Thr275=) c.759C>T (p.Thr253=) n.454C>T c.927C>T (p.Thr309=) c.738C>T (p.Thr246=) n.453C>T | ClinVar dbSNP |
19 | g.41422343T>A | CA406013034 | BCKDHA | c.826T>A (p.Ser276Thr) c.760T>A (p.Ser254Thr) n.455T>A c.928T>A (p.Ser310Thr) c.739T>A (p.Ser247Thr) n.454T>A | |
19 | g.41422343T>C | CA406013035 | BCKDHA | c.826T>C (p.Ser276Pro) c.760T>C (p.Ser254Pro) n.455T>C c.928T>C (p.Ser310Pro) c.739T>C (p.Ser247Pro) n.454T>C | |
19 | g.41422343T>G | CA406013033 | BCKDHA | c.826T>G (p.Ser276Ala) c.760T>G (p.Ser254Ala) n.455T>G c.928T>G (p.Ser310Ala) c.739T>G (p.Ser247Ala) n.454T>G | |
19 | g.41422344C>A | CA406013038 | BCKDHA | c.827C>A (p.Ser276Tyr) c.761C>A (p.Ser254Tyr) n.456C>A c.929C>A (p.Ser310Tyr) c.740C>A (p.Ser247Tyr) n.455C>A | |
19 | g.41422344C>G | CA406013036 | BCKDHA | c.827C>G (p.Ser276Cys) c.761C>G (p.Ser254Cys) n.456C>G c.929C>G (p.Ser310Cys) c.740C>G (p.Ser247Cys) n.455C>G | |
19 | g.41422344C>T | CA406013037 | BCKDHA | c.827C>T (p.Ser276Phe) c.761C>T (p.Ser254Phe) n.456C>T c.929C>T (p.Ser310Phe) c.740C>T (p.Ser247Phe) n.455C>T | |
19 | g.41422345T>A | CA507690654 | BCKDHA | c.828T>A (p.Ser276=) c.762T>A (p.Ser254=) n.457T>A c.930T>A (p.Ser310=) c.741T>A (p.Ser247=) n.456T>A | |
19 | g.41422345T>C | CA507690655 | BCKDHA | c.828T>C (p.Ser276=) c.762T>C (p.Ser254=) n.457T>C c.930T>C (p.Ser310=) c.741T>C (p.Ser247=) n.456T>C | dbSNP |
19 | g.41422345T>G | CA507690656 | BCKDHA | c.828T>G (p.Ser276=) c.762T>G (p.Ser254=) n.457T>G c.930T>G (p.Ser310=) c.741T>G (p.Ser247=) n.456T>G | ClinVar dbSNP gnomAD v4 |
19 | g.41422345T= | CA2336459069 | BCKDHA | c.828T= (p.Ser276=) c.762T= (p.Ser254=) n.457T= c.930T= (p.Ser310=) c.741T= (p.Ser247=) n.456T= | |
19 | g.41422346G>A | CA406013039 | BCKDHA | c.829G>A (p.Glu277Lys) c.763G>A (p.Glu255Lys) n.458G>A c.931G>A (p.Glu311Lys) c.742G>A (p.Glu248Lys) n.457G>A | |
19 | g.41422346G>C | CA406013040 | BCKDHA | c.829G>C (p.Glu277Gln) c.763G>C (p.Glu255Gln) n.458G>C c.931G>C (p.Glu311Gln) c.742G>C (p.Glu248Gln) n.457G>C | |
19 | g.41422346G>T | CA406013041 | BCKDHA | c.829G>T (p.Glu277Ter) c.763G>T (p.Glu255Ter) n.458G>T c.931G>T (p.Glu311Ter) c.742G>T (p.Glu248Ter) n.457G>T | |
19 | g.41422347A= | CA2336459070 | BCKDHA | c.830A= (p.Glu277=) c.764A= (p.Glu255=) n.459A= c.932A= (p.Glu311=) c.743A= (p.Glu248=) n.458A= | |
19 | g.41422347A>C | CA406013042 | BCKDHA | c.830A>C (p.Glu277Ala) c.764A>C (p.Glu255Ala) n.459A>C c.932A>C (p.Glu311Ala) c.743A>C (p.Glu248Ala) n.458A>C | |
19 | g.41422347A>G | CA406013043 | BCKDHA | c.830A>G (p.Glu277Gly) c.764A>G (p.Glu255Gly) n.459A>G c.932A>G (p.Glu311Gly) c.743A>G (p.Glu248Gly) n.458A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422347A>T | CA406013045 | BCKDHA | c.830A>T (p.Glu277Val) c.764A>T (p.Glu255Val) n.459A>T c.932A>T (p.Glu311Val) c.743A>T (p.Glu248Val) n.458A>T | |
19 | g.41422348G>A | CA507690657 | BCKDHA | c.831G>A (p.Glu277=) c.765G>A (p.Glu255=) n.460G>A c.933G>A (p.Glu311=) c.744G>A (p.Glu248=) n.459G>A | gnomAD v4 |
19 | g.41422348G>C | CA406013047 | BCKDHA | c.831G>C (p.Glu277Asp) c.765G>C (p.Glu255Asp) n.460G>C c.933G>C (p.Glu311Asp) c.744G>C (p.Glu248Asp) n.459G>C | |
19 | g.41422348G>T | CA406013048 | BCKDHA | c.831G>T (p.Glu277Asp) c.765G>T (p.Glu255Asp) n.460G>T c.933G>T (p.Glu311Asp) c.744G>T (p.Glu248Asp) n.459G>T | |
19 | g.41422349C>A | CA406013049 | BCKDHA | c.832C>A (p.Gln278Lys) c.766C>A (p.Gln256Lys) n.461C>A c.934C>A (p.Gln312Lys) c.745C>A (p.Gln249Lys) n.460C>A | |
19 | g.41422349C>G | CA406013050 | BCKDHA | c.832C>G (p.Gln278Glu) c.766C>G (p.Gln256Glu) n.461C>G c.934C>G (p.Gln312Glu) c.745C>G (p.Gln249Glu) n.460C>G | |
19 | g.41422349C>T | CA406013051 | BCKDHA | c.832C>T (p.Gln278Ter) c.766C>T (p.Gln256Ter) n.461C>T c.934C>T (p.Gln312Ter) c.745C>T (p.Gln249Ter) n.460C>T | gnomAD v4 |
19 | g.41422350A>C | CA406013054 | BCKDHA | c.833A>C (p.Gln278Pro) c.767A>C (p.Gln256Pro) n.462A>C c.935A>C (p.Gln312Pro) c.746A>C (p.Gln249Pro) n.461A>C | |
19 | g.41422350A>G | CA406013052 | BCKDHA | c.833A>G (p.Gln278Arg) c.767A>G (p.Gln256Arg) n.462A>G c.935A>G (p.Gln312Arg) c.746A>G (p.Gln249Arg) n.461A>G | gnomAD v4 |
19 | g.41422350A>T | CA406013053 | BCKDHA | c.833A>T (p.Gln278Leu) c.767A>T (p.Gln256Leu) n.462A>T c.935A>T (p.Gln312Leu) c.746A>T (p.Gln249Leu) n.461A>T | |
19 | g.41422351G>A | CA507690659 | BCKDHA | c.834G>A (p.Gln278=) c.768G>A (p.Gln256=) n.463G>A c.936G>A (p.Gln312=) c.747G>A (p.Gln249=) n.462G>A | dbSNP |
19 | g.41422351G>C | CA406013055 | BCKDHA | c.834G>C (p.Gln278His) c.768G>C (p.Gln256His) n.463G>C c.936G>C (p.Gln312His) c.747G>C (p.Gln249His) n.462G>C | |
19 | g.41422351G= | CA2336459072 | BCKDHA | c.834G= (p.Gln278=) c.768G= (p.Gln256=) n.463G= c.936G= (p.Gln312=) c.747G= (p.Gln249=) n.462G= | |
19 | g.41422351G>T | CA406013056 | BCKDHA | c.834G>T (p.Gln278His) c.768G>T (p.Gln256His) n.463G>T c.936G>T (p.Gln312His) c.747G>T (p.Gln249His) n.462G>T | |
19 | g.41422351_41422352delinsGT | CA2336459071 | BCKDHA | c.834_835delinsGT (p.Gln278=) c.768_769delinsGT (p.Gln256=) n.463_464delinsGT c.936_937delinsGT (p.Gln312=) c.747_748delinsGT (p.Gln249=) n.462_463delinsGT | |
19 | g.41422352del | CA9461266 | BCKDHA | c.835del (p.Tyr279IlefsTer?) c.769del (p.Tyr257IlefsTer?) n.464del c.937del (p.Tyr313IlefsTer?) c.748del (p.Tyr250IlefsTer?) n.463del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422352T>A | CA406013057 | BCKDHA | c.835T>A (p.Tyr279Asn) c.769T>A (p.Tyr257Asn) n.464T>A c.937T>A (p.Tyr313Asn) c.748T>A (p.Tyr250Asn) n.463T>A | |
19 | g.41422352T>C | CA406013058 | BCKDHA | c.835T>C (p.Tyr279His) c.769T>C (p.Tyr257His) n.464T>C c.937T>C (p.Tyr313His) c.748T>C (p.Tyr250His) n.463T>C | |
19 | g.41422352T>G | CA406013059 | BCKDHA | c.835T>G (p.Tyr279Asp) c.769T>G (p.Tyr257Asp) n.464T>G c.937T>G (p.Tyr313Asp) c.748T>G (p.Tyr250Asp) n.463T>G | |
19 | g.41422353del | CA406013062 | BCKDHA | c.836del (p.Tyr279PhefsTer?) c.770del (p.Tyr257PhefsTer?) n.465del c.938del (p.Tyr313PhefsTer?) c.749del (p.Tyr250PhefsTer?) n.464del | |
19 | g.41422353A= | CA2336459073 | BCKDHA | c.836A= (p.Tyr279=) c.770A= (p.Tyr257=) n.465A= c.938A= (p.Tyr313=) c.749A= (p.Tyr250=) n.464A= | |
19 | g.41422353A>C | CA406013060 | BCKDHA | c.836A>C (p.Tyr279Ser) c.770A>C (p.Tyr257Ser) n.465A>C c.938A>C (p.Tyr313Ser) c.749A>C (p.Tyr250Ser) n.464A>C | |
19 | g.41422353A>G | CA9461267 | BCKDHA | c.836A>G (p.Tyr279Cys) c.770A>G (p.Tyr257Cys) n.465A>G c.938A>G (p.Tyr313Cys) c.749A>G (p.Tyr250Cys) n.464A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422353A>T | CA406013061 | BCKDHA | c.836A>T (p.Tyr279Phe) c.770A>T (p.Tyr257Phe) n.465A>T c.938A>T (p.Tyr313Phe) c.749A>T (p.Tyr250Phe) n.464A>T | |
19 | g.41422354T>A | CA406013063 | BCKDHA | c.837T>A (p.Tyr279Ter) c.771T>A (p.Tyr257Ter) n.466T>A c.939T>A (p.Tyr313Ter) c.750T>A (p.Tyr250Ter) n.465T>A | |
19 | g.41422354T>C | CA507690662 | BCKDHA | c.837T>C (p.Tyr279=) c.771T>C (p.Tyr257=) n.466T>C c.939T>C (p.Tyr313=) c.750T>C (p.Tyr250=) n.465T>C | |
19 | g.41422354T>G | CA406013064 | BCKDHA | c.837T>G (p.Tyr279Ter) c.771T>G (p.Tyr257Ter) n.466T>G c.939T>G (p.Tyr313Ter) c.750T>G (p.Tyr250Ter) n.465T>G | |
19 | g.41422355C>A | CA308524454 | BCKDHA | c.838C>A (p.Arg280Ser) c.772C>A (p.Arg258Ser) n.467C>A c.940C>A (p.Arg314Ser) c.751C>A (p.Arg251Ser) n.466C>A | dbSNP |
19 | g.41422355C= | CA2336459074 | BCKDHA | c.838C= (p.Arg280=) c.772C= (p.Arg258=) n.467C= c.940C= (p.Arg314=) c.751C= (p.Arg251=) n.466C= | |
19 | g.41422355C>G | CA406013065 | BCKDHA | c.838C>G (p.Arg280Gly) c.772C>G (p.Arg258Gly) n.467C>G c.940C>G (p.Arg314Gly) c.751C>G (p.Arg251Gly) n.466C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422355C>T | CA9461268 | BCKDHA | c.838C>T (p.Arg280Cys) c.772C>T (p.Arg258Cys) n.467C>T c.940C>T (p.Arg314Cys) c.751C>T (p.Arg251Cys) n.466C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422356G>A | CA308524460 | BCKDHA | c.839G>A (p.Arg280His) c.773G>A (p.Arg258His) n.468G>A c.941G>A (p.Arg314His) c.752G>A (p.Arg251His) n.467G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422356G>C | CA406013066 | BCKDHA | c.839G>C (p.Arg280Pro) c.773G>C (p.Arg258Pro) n.468G>C c.941G>C (p.Arg314Pro) c.752G>C (p.Arg251Pro) n.467G>C | |
19 | g.41422356G= | CA2336459075 | BCKDHA | c.839G= (p.Arg280=) c.773G= (p.Arg258=) n.468G= c.941G= (p.Arg314=) c.752G= (p.Arg251=) n.467G= | |
19 | g.41422356G>T | CA406013067 | BCKDHA | c.839G>T (p.Arg280Leu) c.773G>T (p.Arg258Leu) n.468G>T c.941G>T (p.Arg314Leu) c.752G>T (p.Arg251Leu) n.467G>T | gnomAD v4 |
19 | g.41422357C>A | CA507690664 | BCKDHA | c.840C>A (p.Arg280=) c.774C>A (p.Arg258=) n.469C>A c.942C>A (p.Arg314=) c.753C>A (p.Arg251=) n.468C>A | |
19 | g.41422357C= | CA2336459076 | BCKDHA | c.840C= (p.Arg280=) c.774C= (p.Arg258=) n.469C= c.942C= (p.Arg314=) c.753C= (p.Arg251=) n.468C= | |
19 | g.41422357C>G | CA507690665 | BCKDHA | c.840C>G (p.Arg280=) c.774C>G (p.Arg258=) n.469C>G c.942C>G (p.Arg314=) c.753C>G (p.Arg251=) n.468C>G | |
19 | g.41422357C>T | CA9461269 | BCKDHA | c.840C>T (p.Arg280=) c.774C>T (p.Arg258=) n.469C>T c.942C>T (p.Arg314=) c.753C>T (p.Arg251=) n.468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422358G>A | CA9461270 | BCKDHA | c.841G>A (p.Gly281Ser) c.775G>A (p.Gly259Ser) n.470G>A c.943G>A (p.Gly315Ser) c.754G>A (p.Gly252Ser) n.469G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422358G>C | CA406013068 | BCKDHA | c.841G>C (p.Gly281Arg) c.775G>C (p.Gly259Arg) n.470G>C c.943G>C (p.Gly315Arg) c.754G>C (p.Gly252Arg) n.469G>C | |
19 | g.41422358G= | CA2336459077 | BCKDHA | c.841G= (p.Gly281=) c.775G= (p.Gly259=) n.470G= c.943G= (p.Gly315=) c.754G= (p.Gly252=) n.469G= | |
19 | g.41422358G>T | CA406013069 | BCKDHA | c.841G>T (p.Gly281Cys) c.775G>T (p.Gly259Cys) n.470G>T c.943G>T (p.Gly315Cys) c.754G>T (p.Gly252Cys) n.469G>T | |
19 | g.41422359G>A | CA406013070 | BCKDHA | c.842G>A (p.Gly281Asp) c.776G>A (p.Gly259Asp) n.471G>A c.944G>A (p.Gly315Asp) c.755G>A (p.Gly252Asp) n.470G>A | |
19 | g.41422359G>C | CA406013071 | BCKDHA | c.842G>C (p.Gly281Ala) c.776G>C (p.Gly259Ala) n.471G>C c.944G>C (p.Gly315Ala) c.755G>C (p.Gly252Ala) n.470G>C | |
19 | g.41422359G= | CA2336459078 | BCKDHA | c.842G= (p.Gly281=) c.776G= (p.Gly259=) n.471G= c.944G= (p.Gly315=) c.755G= (p.Gly252=) n.470G= | |
19 | g.41422359G>T | CA10648755 | BCKDHA | c.842G>T (p.Gly281Val) c.776G>T (p.Gly259Val) n.471G>T c.944G>T (p.Gly315Val) c.755G>T (p.Gly252Val) n.470G>T | ClinVar dbSNP gnomAD v4 |
19 | g.41422360C>A | CA507690666 | BCKDHA | c.843C>A (p.Gly281=) c.777C>A (p.Gly259=) n.472C>A c.945C>A (p.Gly315=) c.756C>A (p.Gly252=) n.471C>A | |
19 | g.41422360C= | CA2336459079 | BCKDHA | c.843C= (p.Gly281=) c.777C= (p.Gly259=) n.472C= c.945C= (p.Gly315=) c.756C= (p.Gly252=) n.471C= | |
19 | g.41422360C>G | CA507690667 | BCKDHA | c.843C>G (p.Gly281=) c.777C>G (p.Gly259=) n.472C>G c.945C>G (p.Gly315=) c.756C>G (p.Gly252=) n.471C>G | gnomAD v4 |
19 | g.41422360C>T | CA9461271 | BCKDHA | c.843C>T (p.Gly281=) c.777C>T (p.Gly259=) n.472C>T c.945C>T (p.Gly315=) c.756C>T (p.Gly252=) n.471C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422361G>A | CA406013072 | BCKDHA | c.844G>A (p.Asp282Asn) c.778G>A (p.Asp260Asn) n.473G>A c.946G>A (p.Asp316Asn) c.757G>A (p.Asp253Asn) n.472G>A | dbSNP gnomAD v4 COSMIC |
19 | g.41422361G>C | CA354918 | BCKDHA | c.844G>C (p.Asp282His) c.778G>C (p.Asp260His) n.473G>C c.946G>C (p.Asp316His) c.757G>C (p.Asp253His) n.472G>C | ClinVar dbSNP gnomAD v4 |
19 | g.41422361G= | CA2336459080 | BCKDHA | c.844G= (p.Asp282=) c.778G= (p.Asp260=) n.473G= c.946G= (p.Asp316=) c.757G= (p.Asp253=) n.472G= | |
19 | g.41422361G>T | CA406013073 | BCKDHA | c.844G>T (p.Asp282Tyr) c.778G>T (p.Asp260Tyr) n.473G>T c.946G>T (p.Asp316Tyr) c.757G>T (p.Asp253Tyr) n.472G>T | |
19 | g.41422362A>C | CA406013074 | BCKDHA | c.845A>C (p.Asp282Ala) c.779A>C (p.Asp260Ala) n.474A>C c.947A>C (p.Asp316Ala) c.758A>C (p.Asp253Ala) n.473A>C | |
19 | g.41422362A>G | CA406013076 | BCKDHA | c.845A>G (p.Asp282Gly) c.779A>G (p.Asp260Gly) n.474A>G c.947A>G (p.Asp316Gly) c.758A>G (p.Asp253Gly) n.473A>G | gnomAD v4 |
19 | g.41422362A>T | CA406013075 | BCKDHA | c.845A>T (p.Asp282Val) c.779A>T (p.Asp260Val) n.474A>T c.947A>T (p.Asp316Val) c.758A>T (p.Asp253Val) n.473A>T | |
19 | g.41422363T>A | CA406013077 | BCKDHA | c.846T>A (p.Asp282Glu) c.780T>A (p.Asp260Glu) n.475T>A c.948T>A (p.Asp316Glu) c.759T>A (p.Asp253Glu) n.474T>A | |
19 | g.41422363T>C | CA507690670 | BCKDHA | c.846T>C (p.Asp282=) c.780T>C (p.Asp260=) n.475T>C c.948T>C (p.Asp316=) c.759T>C (p.Asp253=) n.474T>C | gnomAD v4 |
19 | g.41422363T>G | CA406013078 | BCKDHA | c.846T>G (p.Asp282Glu) c.780T>G (p.Asp260Glu) n.475T>G c.948T>G (p.Asp316Glu) c.759T>G (p.Asp253Glu) n.474T>G | |
19 | g.41422364G>A | CA406013079 | BCKDHA | c.847G>A (p.Gly283Ser) c.781G>A (p.Gly261Ser) n.476G>A c.949G>A (p.Gly317Ser) c.760G>A (p.Gly254Ser) n.475G>A | |
19 | g.41422364G>C | CA406013080 | BCKDHA | c.847G>C (p.Gly283Arg) c.781G>C (p.Gly261Arg) n.476G>C c.949G>C (p.Gly317Arg) c.760G>C (p.Gly254Arg) n.475G>C | |
19 | g.41422364G>T | CA406013081 | BCKDHA | c.847G>T (p.Gly283Cys) c.781G>T (p.Gly261Cys) n.476G>T c.949G>T (p.Gly317Cys) c.760G>T (p.Gly254Cys) n.475G>T | |
19 | g.41422365G>A | CA406013082 | BCKDHA | c.848G>A (p.Gly283Asp) c.782G>A (p.Gly261Asp) n.477G>A c.950G>A (p.Gly317Asp) c.761G>A (p.Gly254Asp) n.476G>A | |
19 | g.41422365G>C | CA406013083 | BCKDHA | c.848G>C (p.Gly283Ala) c.782G>C (p.Gly261Ala) n.477G>C c.950G>C (p.Gly317Ala) c.761G>C (p.Gly254Ala) n.476G>C | |
19 | g.41422365G>T | CA406013084 | BCKDHA | c.848G>T (p.Gly283Val) c.782G>T (p.Gly261Val) n.477G>T c.950G>T (p.Gly317Val) c.761G>T (p.Gly254Val) n.476G>T | |
19 | g.41422366C>A | CA507690671 | BCKDHA | c.849C>A (p.Gly283=) c.783C>A (p.Gly261=) n.478C>A c.951C>A (p.Gly317=) c.762C>A (p.Gly254=) n.477C>A | |
19 | g.41422366C>G | CA507690672 | BCKDHA | c.849C>G (p.Gly283=) c.783C>G (p.Gly261=) n.478C>G c.951C>G (p.Gly317=) c.762C>G (p.Gly254=) n.477C>G | |
19 | g.41422366C>T | CA507690673 | BCKDHA | c.849C>T (p.Gly283=) c.783C>T (p.Gly261=) n.478C>T c.951C>T (p.Gly317=) c.762C>T (p.Gly254=) n.477C>T | |
19 | g.41422367A>C | CA406013085 | BCKDHA | c.850A>C (p.Ile284Leu) c.784A>C (p.Ile262Leu) n.479A>C c.952A>C (p.Ile318Leu) c.763A>C (p.Ile255Leu) n.478A>C | |
19 | g.41422367A>G | CA406013086 | BCKDHA | c.850A>G (p.Ile284Val) c.784A>G (p.Ile262Val) n.479A>G c.952A>G (p.Ile318Val) c.763A>G (p.Ile255Val) n.478A>G | |
19 | g.41422367A>T | CA406013087 | BCKDHA | c.850A>T (p.Ile284Phe) c.784A>T (p.Ile262Phe) n.479A>T c.952A>T (p.Ile318Phe) c.763A>T (p.Ile255Phe) n.478A>T | |
19 | g.41422368T>A | CA406013090 | BCKDHA | c.851T>A (p.Ile284Asn) c.785T>A (p.Ile262Asn) n.480T>A c.953T>A (p.Ile318Asn) c.764T>A (p.Ile255Asn) n.479T>A | |
19 | g.41422368T>C | CA406013089 | BCKDHA | c.851T>C (p.Ile284Thr) c.785T>C (p.Ile262Thr) n.480T>C c.953T>C (p.Ile318Thr) c.764T>C (p.Ile255Thr) n.479T>C | |
19 | g.41422368T>G | CA406013088 | BCKDHA | c.851T>G (p.Ile284Ser) c.785T>G (p.Ile262Ser) n.480T>G c.953T>G (p.Ile318Ser) c.764T>G (p.Ile255Ser) n.479T>G | |
19 | g.41422369T>A | CA507690675 | BCKDHA | c.852T>A (p.Ile284=) c.786T>A (p.Ile262=) n.481T>A c.954T>A (p.Ile318=) c.765T>A (p.Ile255=) n.480T>A | gnomAD v4 |
19 | g.41422369T>C | CA507690676 | BCKDHA | c.852T>C (p.Ile284=) c.786T>C (p.Ile262=) n.481T>C c.954T>C (p.Ile318=) c.765T>C (p.Ile255=) n.480T>C | |
19 | g.41422369T>G | CA406013092 | BCKDHA | c.852T>G (p.Ile284Met) c.786T>G (p.Ile262Met) n.481T>G c.954T>G (p.Ile318Met) c.765T>G (p.Ile255Met) n.480T>G | |
19 | g.41422370G>A | CA406013096 | BCKDHA | c.853G>A (p.Ala285Thr) c.787G>A (p.Ala263Thr) n.482G>A c.955G>A (p.Ala319Thr) c.766G>A (p.Ala256Thr) n.481G>A | |
19 | g.41422370G>C | CA221220 | BCKDHA | c.853G>C (p.Ala285Pro) c.787G>C (p.Ala263Pro) n.482G>C c.955G>C (p.Ala319Pro) c.766G>C (p.Ala256Pro) n.481G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422370G= | CA2336459081 | BCKDHA | c.853G= (p.Ala285=) c.787G= (p.Ala263=) n.482G= c.955G= (p.Ala319=) c.766G= (p.Ala256=) n.481G= | |
19 | g.41422370G>T | CA406013099 | BCKDHA | c.853G>T (p.Ala285Ser) c.787G>T (p.Ala263Ser) n.482G>T c.955G>T (p.Ala319Ser) c.766G>T (p.Ala256Ser) n.481G>T | gnomAD v4 |
19 | g.41422371del | CA2695228767 | BCKDHA | c.853+1del c.787+1del n.482+1del c.955+1del c.766+1del n.481+1del | |
19 | g.41422371G>A | CA406013102 | BCKDHA | c.853+1G>A (n.853+1G>A) c.787+1G>A (n.787+1G>A) n.482+1G>A c.955+1G>A (n.955+1G>A) c.766+1G>A (n.766+1G>A) n.481+1G>A | |
19 | g.41422371G>C | CA406013106 | BCKDHA | c.853+1G>C (n.853+1G>C) c.787+1G>C (n.787+1G>C) n.482+1G>C c.955+1G>C (n.955+1G>C) c.766+1G>C (n.766+1G>C) n.481+1G>C | ClinVar |
19 | g.41422371G= | CA2336459082 | BCKDHA | c.853+1G= (n.853+1G=) c.787+1G= (n.787+1G=) n.482+1G= c.955+1G= (n.955+1G=) c.766+1G= (n.766+1G=) n.481+1G= | |
19 | g.41422371G>T | CA406013104 | BCKDHA | c.853+1G>T (n.853+1G>T) c.787+1G>T (n.787+1G>T) n.482+1G>T c.955+1G>T (n.955+1G>T) c.766+1G>T (n.766+1G>T) n.481+1G>T | ClinVar dbSNP |
19 | g.41422372T>A | CA406013109 | BCKDHA | c.853+2T>A (n.853+2T>A) c.787+2T>A (n.787+2T>A) n.482+2T>A c.955+2T>A (n.955+2T>A) c.766+2T>A (n.766+2T>A) n.481+2T>A | |
19 | g.41422372T>C | CA9461272 | BCKDHA | c.853+2T>C (n.853+2T>C) c.787+2T>C (n.787+2T>C) n.482+2T>C c.955+2T>C (n.955+2T>C) c.766+2T>C (n.766+2T>C) n.481+2T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422372T>G | CA406013113 | BCKDHA | c.853+2T>G (n.853+2T>G) c.787+2T>G (n.787+2T>G) n.482+2T>G c.955+2T>G (n.955+2T>G) c.766+2T>G (n.766+2T>G) n.481+2T>G | |
19 | g.41422372T= | CA2336459083 | BCKDHA | c.853+2T= (n.853+2T=) c.787+2T= (n.787+2T=) n.482+2T= c.955+2T= (n.955+2T=) c.766+2T= (n.766+2T=) n.481+2T= | |
19 | g.41422375G>A | CA9461273 | BCKDHA | c.853+5G>A (n.853+5G>A) c.787+5G>A (n.787+5G>A) n.482+5G>A c.955+5G>A (n.955+5G>A) c.766+5G>A (n.766+5G>A) n.481+5G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422375G= | CA2336459084 | BCKDHA | c.853+5G= (n.853+5G=) c.787+5G= (n.787+5G=) n.482+5G= c.955+5G= (n.955+5G=) c.766+5G= (n.766+5G=) n.481+5G= | |
19 | g.41422377del | CA2814427430 | BCKDHA | c.853+7del (n.853+7del) c.787+7del (n.787+7del) n.482+7del c.955+7del (n.955+7del) c.766+7del (n.766+7del) n.481+7del | |
19 | g.41422377G>C | CA2336459086 | BCKDHA | c.853+7G>C (n.853+7G>C) c.787+7G>C (n.787+7G>C) n.482+7G>C c.955+7G>C (n.955+7G>C) c.766+7G>C (n.766+7G>C) n.481+7G>C | dbSNP |
19 | g.41422377G= | CA2336459085 | BCKDHA | c.853+7G= (n.853+7G=) c.787+7G= (n.787+7G=) n.482+7G= c.955+7G= (n.955+7G=) c.766+7G= (n.766+7G=) n.481+7G= | |
19 | g.41422378C>T | CA2580097295 | BCKDHA | c.853+8C>T (n.853+8C>T) c.787+8C>T (n.787+8C>T) n.482+8C>T c.955+8C>T (n.955+8C>T) c.766+8C>T (n.766+8C>T) n.481+8C>T | ClinVar |
19 | g.41422380C= | CA2336459087 | BCKDHA | c.853+10C= (n.853+10C=) c.787+10C= (n.787+10C=) n.482+10C= c.955+10C= (n.955+10C=) c.766+10C= (n.766+10C=) n.481+10C= | |
19 | g.41422380C>T | CA633470381 | BCKDHA | c.853+10C>T (n.853+10C>T) c.787+10C>T (n.787+10C>T) n.482+10C>T c.955+10C>T (n.955+10C>T) c.766+10C>T (n.766+10C>T) n.481+10C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422381T>C | CA658799239 | BCKDHA | c.853+11T>C (n.853+11T>C) c.787+11T>C (n.787+11T>C) n.482+11T>C c.955+11T>C (n.955+11T>C) c.766+11T>C (n.766+11T>C) n.481+11T>C | ClinVar dbSNP |
19 | g.41422381T= | CA2336459088 | BCKDHA | c.853+11T= (n.853+11T=) c.787+11T= (n.787+11T=) n.482+11T= c.955+11T= (n.955+11T=) c.766+11T= (n.766+11T=) n.481+11T= | |
19 | g.41422382G>A | CA633470382 | BCKDHA | c.853+12G>A (n.853+12G>A) c.787+12G>A (n.787+12G>A) n.482+12G>A c.955+12G>A (n.955+12G>A) c.766+12G>A (n.766+12G>A) n.481+12G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41422382G= | CA2336459089 | BCKDHA | c.853+12G= (n.853+12G=) c.787+12G= (n.787+12G=) n.482+12G= c.955+12G= (n.955+12G=) c.766+12G= (n.766+12G=) n.481+12G= | |
19 | g.41422383C= | CA2336459090 | BCKDHA | c.853+13C= (n.853+13C=) c.787+13C= (n.787+13C=) n.482+13C= c.955+13C= (n.955+13C=) c.766+13C= (n.766+13C=) n.481+13C= | |
19 | g.41422383C>T | CA633470383 | BCKDHA | c.853+13C>T (n.853+13C>T) c.787+13C>T (n.787+13C>T) n.482+13C>T c.955+13C>T (n.955+13C>T) c.766+13C>T (n.766+13C>T) n.481+13C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422383_41422384del | CA2576793827 | BCKDHA | c.853+13_853+14del (n.853+13_853+14del) c.787+13_787+14del (n.787+13_787+14del) n.482+13_482+14del c.955+13_955+14del (n.955+13_955+14del) c.766+13_766+14del (n.766+13_766+14del) n.481+13_481+14del | |
19 | g.41422387C>A | CA221219 | BCKDHA | c.853+17C>A (n.853+17C>A) c.787+17C>A (n.787+17C>A) n.482+17C>A c.955+17C>A (n.955+17C>A) c.766+17C>A (n.766+17C>A) n.481+17C>A | ClinVar dbSNP |
19 | g.41422387C= | CA2336459091 | BCKDHA | c.853+17C= (n.853+17C=) c.787+17C= (n.787+17C=) n.482+17C= c.955+17C= (n.955+17C=) c.766+17C= (n.766+17C=) n.481+17C= | |
19 | g.41422387C>G | CA2585307996 | BCKDHA | c.853+17C>G (n.853+17C>G) c.787+17C>G (n.787+17C>G) n.482+17C>G c.955+17C>G (n.955+17C>G) c.766+17C>G (n.766+17C>G) n.481+17C>G | gnomAD v4 |
19 | g.41422387C>T | CA2576793828 | BCKDHA | c.853+17C>T (n.853+17C>T) c.787+17C>T (n.787+17C>T) n.482+17C>T c.955+17C>T (n.955+17C>T) c.766+17C>T (n.766+17C>T) n.481+17C>T | |
19 | g.41422389G>A | CA9461274 | BCKDHA | c.853+19G>A (n.853+19G>A) c.787+19G>A (n.787+19G>A) n.482+19G>A c.955+19G>A (n.955+19G>A) c.766+19G>A (n.766+19G>A) n.481+19G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422389G= | CA2336459092 | BCKDHA | c.853+19G= (n.853+19G=) c.787+19G= (n.787+19G=) n.482+19G= c.955+19G= (n.955+19G=) c.766+19G= (n.766+19G=) n.481+19G= | |
19 | g.41422389G>T | CA657349423 | BCKDHA | c.853+19G>T (n.853+19G>T) c.787+19G>T (n.787+19G>T) n.482+19G>T c.955+19G>T (n.955+19G>T) c.766+19G>T (n.766+19G>T) n.481+19G>T | ClinVar gnomAD v4 COSMIC |
19 | g.41422390C= | CA2336459093 | BCKDHA | c.853+20C= (n.853+20C=) c.787+20C= (n.787+20C=) n.482+20C= c.955+20C= (n.955+20C=) c.766+20C= (n.766+20C=) n.481+20C= | |
19 | g.41422390C>T | CA9461275 | BCKDHA | c.853+20C>T (n.853+20C>T) c.787+20C>T (n.787+20C>T) n.482+20C>T c.955+20C>T (n.955+20C>T) c.766+20C>T (n.766+20C>T) n.481+20C>T | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.41422391T>C | CA2585307997 | BCKDHA | c.853+21T>C (n.853+21T>C) c.787+21T>C (n.787+21T>C) n.482+21T>C c.955+21T>C (n.955+21T>C) c.766+21T>C (n.766+21T>C) n.481+21T>C | gnomAD v4 |
19 | g.41422391T>G | CA2585307998 | BCKDHA | c.853+21T>G (n.853+21T>G) c.787+21T>G (n.787+21T>G) n.482+21T>G c.955+21T>G (n.955+21T>G) c.766+21T>G (n.766+21T>G) n.481+21T>G | gnomAD v4 |
19 | g.41422392C>A | CA2585307999 | BCKDHA | c.853+22C>A (n.853+22C>A) c.787+22C>A (n.787+22C>A) n.482+22C>A c.955+22C>A (n.955+22C>A) c.766+22C>A (n.766+22C>A) n.481+22C>A | gnomAD v4 |
19 | g.41422395del | CA2576793829 | BCKDHA | c.853+25del (n.853+25del) c.787+25del (n.787+25del) n.482+25del c.955+25del (n.955+25del) c.766+25del (n.766+25del) n.481+25del | |
19 | g.41422394C>A | CA633470342 | BCKDHA | c.853+24C>A (n.853+24C>A) c.787+24C>A (n.787+24C>A) n.482+24C>A c.955+24C>A (n.955+24C>A) c.766+24C>A (n.766+24C>A) n.481+24C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422394C= | CA2336459094 | BCKDHA | c.853+24C= (n.853+24C=) c.787+24C= (n.787+24C=) n.482+24C= c.955+24C= (n.955+24C=) c.766+24C= (n.766+24C=) n.481+24C= | |
19 | g.41422395C>A | CA2336459096 | BCKDHA | c.853+25C>A (n.853+25C>A) c.787+25C>A (n.787+25C>A) n.482+25C>A c.955+25C>A (n.955+25C>A) c.766+25C>A (n.766+25C>A) n.481+25C>A | dbSNP |
19 | g.41422395C= | CA2336459095 | BCKDHA | c.853+25C= (n.853+25C=) c.787+25C= (n.787+25C=) n.482+25C= c.955+25C= (n.955+25C=) c.766+25C= (n.766+25C=) n.481+25C= | |
19 | g.41422395C>T | CA9461276 | BCKDHA | c.853+25C>T (n.853+25C>T) c.787+25C>T (n.787+25C>T) n.482+25C>T c.955+25C>T (n.955+25C>T) c.766+25C>T (n.766+25C>T) n.481+25C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422396A= | CA2336459097 | BCKDHA | c.853+26A= (n.853+26A=) c.787+26A= (n.787+26A=) n.482+26A= c.955+26A= (n.955+26A=) c.766+26A= (n.766+26A=) n.481+26A= | |
19 | g.41422396A>C | CA995976542 | BCKDHA | c.853+26A>C (n.853+26A>C) c.787+26A>C (n.787+26A>C) n.482+26A>C c.955+26A>C (n.955+26A>C) c.766+26A>C (n.766+26A>C) n.481+26A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41422397C= | CA2336459098 | BCKDHA | c.853+27C= (n.853+27C=) c.787+27C= (n.787+27C=) n.482+27C= c.955+27C= (n.955+27C=) c.766+27C= (n.766+27C=) n.481+27C= | |
19 | g.41422397C>T | CA882349548 | BCKDHA | c.853+27C>T (n.853+27C>T) c.787+27C>T (n.787+27C>T) n.482+27C>T c.955+27C>T (n.955+27C>T) c.766+27C>T (n.766+27C>T) n.481+27C>T | dbSNP gnomAD v4 |
19 | g.41422400del | CA2576793830 | BCKDHA | c.853+30del (n.853+30del) c.787+30del (n.787+30del) n.482+30del c.955+30del (n.955+30del) c.766+30del (n.766+30del) n.481+30del | gnomAD v4 |
19 | g.41422398C>A | CA633470344 | BCKDHA | c.853+28C>A (n.853+28C>A) c.787+28C>A (n.787+28C>A) n.482+28C>A c.955+28C>A (n.955+28C>A) c.766+28C>A (n.766+28C>A) n.481+28C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422398C= | CA2336459099 | BCKDHA | c.853+28C= (n.853+28C=) c.787+28C= (n.787+28C=) n.482+28C= c.955+28C= (n.955+28C=) c.766+28C= (n.766+28C=) n.481+28C= | |
19 | g.41422398C>T | CA633470343 | BCKDHA | c.853+28C>T (n.853+28C>T) c.787+28C>T (n.787+28C>T) n.482+28C>T c.955+28C>T (n.955+28C>T) c.766+28C>T (n.766+28C>T) n.481+28C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422399C>A | CA2576793831 | BCKDHA | c.853+29C>A (n.853+29C>A) c.787+29C>A (n.787+29C>A) n.482+29C>A c.955+29C>A (n.955+29C>A) c.766+29C>A (n.766+29C>A) n.481+29C>A | gnomAD v4 |
19 | g.41422400C>A | CA2585308000 | BCKDHA | c.853+30C>A (n.853+30C>A) c.787+30C>A (n.787+30C>A) n.482+30C>A c.955+30C>A (n.955+30C>A) c.766+30C>A (n.766+30C>A) n.481+30C>A | gnomAD v4 |
19 | g.41422400C= | CA2336459100 | BCKDHA | c.853+30C= (n.853+30C=) c.787+30C= (n.787+30C=) n.482+30C= c.955+30C= (n.955+30C=) c.766+30C= (n.766+30C=) n.481+30C= | |
19 | g.41422400C>T | CA9461277 | BCKDHA | c.853+30C>T (n.853+30C>T) c.787+30C>T (n.787+30C>T) n.482+30C>T c.955+30C>T (n.955+30C>T) c.766+30C>T (n.766+30C>T) n.481+30C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422401G>A | CA9461278 | BCKDHA | c.853+31G>A (n.853+31G>A) c.787+31G>A (n.787+31G>A) n.482+31G>A c.955+31G>A (n.955+31G>A) c.766+31G>A (n.766+31G>A) n.481+31G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41422401G= | CA2336459101 | BCKDHA | c.853+31G= (n.853+31G=) c.787+31G= (n.787+31G=) n.482+31G= c.955+31G= (n.955+31G=) c.766+31G= (n.766+31G=) n.481+31G= | |
19 | g.41422401G>T | CA507690564 | BCKDHA | c.853+31G>T (n.853+31G>T) c.787+31G>T (n.787+31G>T) n.482+31G>T c.955+31G>T (n.955+31G>T) c.766+31G>T (n.766+31G>T) n.481+31G>T | gnomAD v4 |
19 | g.41422402C>A | CA2585308001 | BCKDHA | c.853+32C>A (n.853+32C>A) c.787+32C>A (n.787+32C>A) n.482+32C>A c.955+32C>A (n.955+32C>A) c.766+32C>A (n.766+32C>A) n.481+32C>A | gnomAD v4 |
19 | g.41422403T= | CA2336459102 | BCKDHA | c.853+33T= (n.853+33T=) c.787+33T= (n.787+33T=) n.482+33T= c.955+33T= (n.955+33T=) c.766+33T= (n.766+33T=) n.481+33T= | |
19 | g.41422404G>A | CA308524527 | BCKDHA | c.853+34G>A (n.853+34G>A) c.787+34G>A (n.787+34G>A) n.482+34G>A c.955+34G>A (n.955+34G>A) c.766+34G>A (n.766+34G>A) n.481+34G>A | dbSNP gnomAD v4 |
19 | g.41422404G= | CA2336459103 | BCKDHA | c.853+34G= (n.853+34G=) c.787+34G= (n.787+34G=) n.482+34G= c.955+34G= (n.955+34G=) c.766+34G= (n.766+34G=) n.481+34G= | |
19 | g.41422406dup | CA882349554 | BCKDHA | c.853+36dup (n.853+36dup) c.787+36dup (n.787+36dup) n.482+36dup c.955+36dup (n.955+36dup) c.766+36dup (n.766+36dup) n.481+36dup | dbSNP |
19 | g.41422405G>T | CA2841673841 | BCKDHA | c.853+35G>T (n.853+35G>T) c.787+35G>T (n.787+35G>T) n.482+35G>T c.955+35G>T (n.955+35G>T) c.766+35G>T (n.766+35G>T) n.481+35G>T | |
19 | g.41422406G>A | CA2336459105 | BCKDHA | c.853+36G>A (n.853+36G>A) c.787+36G>A (n.787+36G>A) n.482+36G>A c.955+36G>A (n.955+36G>A) c.766+36G>A (n.766+36G>A) n.481+36G>A | dbSNP gnomAD v4 |
19 | g.41422406G>C | CA2585308002 | BCKDHA | c.853+36G>C (n.853+36G>C) c.787+36G>C (n.787+36G>C) n.482+36G>C c.955+36G>C (n.955+36G>C) c.766+36G>C (n.766+36G>C) n.481+36G>C | gnomAD v4 |
19 | g.41422406G= | CA2336459104 | BCKDHA | c.853+36G= (n.853+36G=) c.787+36G= (n.787+36G=) n.482+36G= c.955+36G= (n.955+36G=) c.766+36G= (n.766+36G=) n.481+36G= | |
19 | g.41422406G>T | CA2841673842 | BCKDHA | c.853+36G>T (n.853+36G>T) c.787+36G>T (n.787+36G>T) n.482+36G>T c.955+36G>T (n.955+36G>T) c.766+36G>T (n.766+36G>T) n.481+36G>T | |
19 | g.41422409C>A | CA2585308003 | BCKDHA | c.853+39C>A (n.853+39C>A) c.787+39C>A (n.787+39C>A) n.482+39C>A c.955+39C>A (n.955+39C>A) c.766+39C>A (n.766+39C>A) n.481+39C>A | gnomAD v4 |
19 | g.41422411T>C | CA9461279 | BCKDHA | c.853+41T>C (n.853+41T>C) c.787+41T>C (n.787+41T>C) n.482+41T>C c.955+41T>C (n.955+41T>C) c.766+41T>C (n.766+41T>C) n.481+41T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41422411T= | CA2336459106 | BCKDHA | c.853+41T= (n.853+41T=) c.787+41T= (n.787+41T=) n.482+41T= c.955+41T= (n.955+41T=) c.766+41T= (n.766+41T=) n.481+41T= | |
19 | g.41422411_41422414delinsTCTC | CA2336459107 | BCKDHA | c.853+41_853+44delinsTCTC (n.853+41_853+44delinsTCTC) c.787+41_787+44delinsTCTC (n.787+41_787+44delinsTCTC) n.482+41_482+44delinsTCTC c.955+41_955+44delinsTCTC (n.955+41_955+44delinsTCTC) c.766+41_766+44delinsTCTC (n.766+41_766+44delinsTCTC) n.481+41_481+44delinsTCTC |