UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422298_41422300del | CA2585307995 | BCKDHA | c.781_783del (p.Ile261del) c.715_717del (p.Ile239del) n.410_412del c.883_885del (p.Ile295del) c.694_696del (p.Ile232del) n.409_411del | gnomAD v4 |
| 19 | g.41422296T>A | CA406012933 | BCKDHA | c.779T>A (p.Ile260Asn) c.713T>A (p.Ile238Asn) n.408T>A c.881T>A (p.Ile294Asn) c.692T>A (p.Ile231Asn) n.407T>A | |
| 19 | g.41422296T>C | CA406012934 | BCKDHA | c.779T>C (p.Ile260Thr) c.713T>C (p.Ile238Thr) n.408T>C c.881T>C (p.Ile294Thr) c.692T>C (p.Ile231Thr) n.407T>C | |
| 19 | g.41422296T>G | CA406012935 | BCKDHA | c.779T>G (p.Ile260Ser) c.713T>G (p.Ile238Ser) n.408T>G c.881T>G (p.Ile294Ser) c.692T>G (p.Ile231Ser) n.407T>G | |
| 19 | g.41422297C>A | CA507690591 | BCKDHA | c.780C>A (p.Ile260=) c.714C>A (p.Ile238=) n.409C>A c.882C>A (p.Ile294=) c.693C>A (p.Ile231=) n.408C>A | |
| 19 | g.41422297C= | CA2336459047 | BCKDHA | c.780C= (p.Ile260=) c.714C= (p.Ile238=) n.409C= c.882C= (p.Ile294=) c.693C= (p.Ile231=) n.408C= | |
| 19 | g.41422297C>G | CA406012936 | BCKDHA | c.780C>G (p.Ile260Met) c.714C>G (p.Ile238Met) n.409C>G c.882C>G (p.Ile294Met) c.693C>G (p.Ile231Met) n.408C>G | dbSNP |
| 19 | g.41422297C>T | CA507690589 | BCKDHA | c.780C>T (p.Ile260=) c.714C>T (p.Ile238=) n.409C>T c.882C>T (p.Ile294=) c.693C>T (p.Ile231=) n.408C>T | |
| 19 | g.41422298A= | CA2336459048 | BCKDHA | c.781A= (p.Ile261=) c.715A= (p.Ile239=) n.410A= c.883A= (p.Ile295=) c.694A= (p.Ile232=) n.409A= | |
| 19 | g.41422298A>C | CA406012937 | BCKDHA | c.781A>C (p.Ile261Leu) c.715A>C (p.Ile239Leu) n.410A>C c.883A>C (p.Ile295Leu) c.694A>C (p.Ile232Leu) n.409A>C | |
| 19 | g.41422298A>G | CA308524317 | BCKDHA | c.781A>G (p.Ile261Val) c.715A>G (p.Ile239Val) n.410A>G c.883A>G (p.Ile295Val) c.694A>G (p.Ile232Val) n.409A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422298A>T | CA406012938 | BCKDHA | c.781A>T (p.Ile261Phe) c.715A>T (p.Ile239Phe) n.410A>T c.883A>T (p.Ile295Phe) c.694A>T (p.Ile232Phe) n.409A>T | |
| 19 | g.41422298_41422301delinsATCT | CA2336459049 | BCKDHA | c.781_784delinsATCT (p.Ile261=) c.715_718delinsATCT (p.Ile239=) n.410_413delinsATCT c.883_886delinsATCT (p.Ile295=) c.694_697delinsATCT (p.Ile232=) n.409_412delinsATCT | |
| 19 | g.41422299T>A | CA406012942 | BCKDHA | c.782T>A (p.Ile261Asn) c.716T>A (p.Ile239Asn) n.411T>A c.884T>A (p.Ile295Asn) c.695T>A (p.Ile232Asn) n.410T>A | |
| 19 | g.41422299T>C | CA406012941 | BCKDHA | c.782T>C (p.Ile261Thr) c.716T>C (p.Ile239Thr) n.411T>C c.884T>C (p.Ile295Thr) c.695T>C (p.Ile232Thr) n.410T>C | |
| 19 | g.41422299T>G | CA406012940 | BCKDHA | c.782T>G (p.Ile261Ser) c.716T>G (p.Ile239Ser) n.411T>G c.884T>G (p.Ile295Ser) c.695T>G (p.Ile232Ser) n.410T>G | |
| 19 | g.41422305_41422307del | CA221215 | BCKDHA | c.788_790del (p.Phe263del) c.722_724del (p.Phe241del) n.417_419del c.890_892del (p.Phe297del) c.701_703del (p.Phe234del) n.416_418del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422300C>A | CA507690599 | BCKDHA | c.783C>A (p.Ile261=) c.717C>A (p.Ile239=) n.412C>A c.885C>A (p.Ile295=) c.696C>A (p.Ile232=) n.411C>A | dbSNP gnomAD v4 |
| 19 | g.41422300C= | CA2336459050 | BCKDHA | c.783C= (p.Ile261=) c.717C= (p.Ile239=) n.412C= c.885C= (p.Ile295=) c.696C= (p.Ile232=) n.411C= | |
| 19 | g.41422300C>G | CA406012943 | BCKDHA | c.783C>G (p.Ile261Met) c.717C>G (p.Ile239Met) n.412C>G c.885C>G (p.Ile295Met) c.696C>G (p.Ile232Met) n.411C>G | |
| 19 | g.41422300C>T | CA507690601 | BCKDHA | c.783C>T (p.Ile261=) c.717C>T (p.Ile239=) n.412C>T c.885C>T (p.Ile295=) c.696C>T (p.Ile232=) n.411C>T | dbSNP gnomAD v4 |
| 19 | g.41422301T>A | CA9461256 | BCKDHA | c.784T>A (p.Phe262Ile) c.718T>A (p.Phe240Ile) n.413T>A c.886T>A (p.Phe296Ile) c.697T>A (p.Phe233Ile) n.412T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422301T>C | CA406012944 | BCKDHA | c.784T>C (p.Phe262Leu) c.718T>C (p.Phe240Leu) n.413T>C c.886T>C (p.Phe296Leu) c.697T>C (p.Phe233Leu) n.412T>C | |
| 19 | g.41422301T>G | CA406012945 | BCKDHA | c.784T>G (p.Phe262Val) c.718T>G (p.Phe240Val) n.413T>G c.886T>G (p.Phe296Val) c.697T>G (p.Phe233Val) n.412T>G | |
| 19 | g.41422301T= | CA2336459051 | BCKDHA | c.784T= (p.Phe262=) c.718T= (p.Phe240=) n.413T= c.886T= (p.Phe296=) c.697T= (p.Phe233=) n.412T= | |
| 19 | g.41422302T>A | CA406012946 | BCKDHA | c.785T>A (p.Phe262Tyr) c.719T>A (p.Phe240Tyr) n.414T>A c.887T>A (p.Phe296Tyr) c.698T>A (p.Phe233Tyr) n.413T>A | |
| 19 | g.41422302T>C | CA406012947 | BCKDHA | c.785T>C (p.Phe262Ser) c.719T>C (p.Phe240Ser) n.414T>C c.887T>C (p.Phe296Ser) c.698T>C (p.Phe233Ser) n.413T>C | |
| 19 | g.41422302T>G | CA406012948 | BCKDHA | c.785T>G (p.Phe262Cys) c.719T>G (p.Phe240Cys) n.414T>G c.887T>G (p.Phe296Cys) c.698T>G (p.Phe233Cys) n.413T>G | |
| 19 | g.41422303C>A | CA406012949 | BCKDHA | c.786C>A (p.Phe262Leu) c.720C>A (p.Phe240Leu) n.415C>A c.888C>A (p.Phe296Leu) c.699C>A (p.Phe233Leu) n.414C>A | |
| 19 | g.41422303C>G | CA406012950 | BCKDHA | c.786C>G (p.Phe262Leu) c.720C>G (p.Phe240Leu) n.415C>G c.888C>G (p.Phe296Leu) c.699C>G (p.Phe233Leu) n.414C>G | |
| 19 | g.41422303C>T | CA507690608 | BCKDHA | c.786C>T (p.Phe262=) c.720C>T (p.Phe240=) n.415C>T c.888C>T (p.Phe296=) c.699C>T (p.Phe233=) n.414C>T | COSMIC |
| 19 | g.41422304T>A | CA406012951 | BCKDHA | c.787T>A (p.Phe263Ile) c.721T>A (p.Phe241Ile) n.416T>A c.889T>A (p.Phe297Ile) c.700T>A (p.Phe234Ile) n.415T>A | |
| 19 | g.41422304T>C | CA308524322 | BCKDHA | c.787T>C (p.Phe263Leu) c.721T>C (p.Phe241Leu) n.416T>C c.889T>C (p.Phe297Leu) c.700T>C (p.Phe234Leu) n.415T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422304T>G | CA9461257 | BCKDHA | c.787T>G (p.Phe263Val) c.721T>G (p.Phe241Val) n.416T>G c.889T>G (p.Phe297Val) c.700T>G (p.Phe234Val) n.415T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422304T= | CA2336459052 | BCKDHA | c.787T= (p.Phe263=) c.721T= (p.Phe241=) n.416T= c.889T= (p.Phe297=) c.700T= (p.Phe234=) n.415T= | |
| 19 | g.41422305T>A | CA406012952 | BCKDHA | c.788T>A (p.Phe263Tyr) c.722T>A (p.Phe241Tyr) n.417T>A c.890T>A (p.Phe297Tyr) c.701T>A (p.Phe234Tyr) n.416T>A | |
| 19 | g.41422305T>C | CA406012953 | BCKDHA | c.788T>C (p.Phe263Ser) c.722T>C (p.Phe241Ser) n.417T>C c.890T>C (p.Phe297Ser) c.701T>C (p.Phe234Ser) n.416T>C | |
| 19 | g.41422305T>G | CA406012954 | BCKDHA | c.788T>G (p.Phe263Cys) c.722T>G (p.Phe241Cys) n.417T>G c.890T>G (p.Phe297Cys) c.701T>G (p.Phe234Cys) n.416T>G | |
| 19 | g.41422306C>A | CA406012955 | BCKDHA | c.789C>A (p.Phe263Leu) c.723C>A (p.Phe241Leu) n.418C>A c.891C>A (p.Phe297Leu) c.702C>A (p.Phe234Leu) n.417C>A | |
| 19 | g.41422306C>G | CA406012956 | BCKDHA | c.789C>G (p.Phe263Leu) c.723C>G (p.Phe241Leu) n.418C>G c.891C>G (p.Phe297Leu) c.702C>G (p.Phe234Leu) n.417C>G | |
| 19 | g.41422306C>T | CA507690610 | BCKDHA | c.789C>T (p.Phe263=) c.723C>T (p.Phe241=) n.418C>T c.891C>T (p.Phe297=) c.702C>T (p.Phe234=) n.417C>T | ClinVar |
| 19 | g.41422307T>A | CA406012957 | BCKDHA | c.790T>A (p.Cys264Ser) c.724T>A (p.Cys242Ser) n.419T>A c.892T>A (p.Cys298Ser) c.703T>A (p.Cys235Ser) n.418T>A | |
| 19 | g.41422307T>C | CA406012958 | BCKDHA | c.790T>C (p.Cys264Arg) c.724T>C (p.Cys242Arg) n.419T>C c.892T>C (p.Cys298Arg) c.703T>C (p.Cys235Arg) n.418T>C | |
| 19 | g.41422307T>G | CA406012959 | BCKDHA | c.790T>G (p.Cys264Gly) c.724T>G (p.Cys242Gly) n.419T>G c.892T>G (p.Cys298Gly) c.703T>G (p.Cys235Gly) n.418T>G | |
| 19 | g.41422308G>A | CA406012960 | BCKDHA | c.791G>A (p.Cys264Tyr) c.725G>A (p.Cys242Tyr) n.420G>A c.893G>A (p.Cys298Tyr) c.704G>A (p.Cys235Tyr) n.419G>A | |
| 19 | g.41422308G>C | CA406012961 | BCKDHA | c.791G>C (p.Cys264Ser) c.725G>C (p.Cys242Ser) n.420G>C c.893G>C (p.Cys298Ser) c.704G>C (p.Cys235Ser) n.419G>C | |
| 19 | g.41422308G>T | CA406012962 | BCKDHA | c.791G>T (p.Cys264Phe) c.725G>T (p.Cys242Phe) n.420G>T c.893G>T (p.Cys298Phe) c.704G>T (p.Cys235Phe) n.419G>T | |
| 19 | g.41422309C>A | CA406012963 | BCKDHA | c.792C>A (p.Cys264Ter) c.726C>A (p.Cys242Ter) n.421C>A c.894C>A (p.Cys298Ter) c.705C>A (p.Cys235Ter) n.420C>A | |
| 19 | g.41422309C= | CA2336459053 | BCKDHA | c.792C= (p.Cys264=) c.726C= (p.Cys242=) n.421C= c.894C= (p.Cys298=) c.705C= (p.Cys235=) n.420C= | |
| 19 | g.41422309C>G | CA115521 | BCKDHA | c.792C>G (p.Cys264Trp) c.726C>G (p.Cys242Trp) n.421C>G c.894C>G (p.Cys298Trp) c.705C>G (p.Cys235Trp) n.420C>G | ClinVar dbSNP gnomAD v4 |