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.41422710A>C | CA406013428 | BCKDHA | c.935A>C (p.Glu312Ala) c.869A>C (p.Glu290Ala) n.564A>C c.1037A>C (p.Glu346Ala) c.848A>C (p.Glu283Ala) n.563A>C c.922+13A>C (n.922+13A>C) c.932A>C (p.Glu311Ala) | |
| 19 | g.41422710A>G | CA406013430 | BCKDHA | c.935A>G (p.Glu312Gly) c.869A>G (p.Glu290Gly) n.564A>G c.1037A>G (p.Glu346Gly) c.848A>G (p.Glu283Gly) n.563A>G c.922+13A>G (n.922+13A>G) c.932A>G (p.Glu311Gly) | |
| 19 | g.41422710A>T | CA406013429 | BCKDHA | c.935A>T (p.Glu312Val) c.869A>T (p.Glu290Val) n.564A>T c.1037A>T (p.Glu346Val) c.848A>T (p.Glu283Val) n.563A>T c.922+13A>T (n.922+13A>T) c.932A>T (p.Glu311Val) | |
| 19 | g.41422711G>A | CA507690732 | BCKDHA | c.936G>A (p.Glu312=) c.870G>A (p.Glu290=) n.565G>A c.1038G>A (p.Glu346=) c.849G>A (p.Glu283=) n.564G>A c.922+14G>A (n.922+14G>A) c.933G>A (p.Glu311=) | |
| 19 | g.41422711G>C | CA406013431 | BCKDHA | c.936G>C (p.Glu312Asp) c.870G>C (p.Glu290Asp) n.565G>C c.1038G>C (p.Glu346Asp) c.849G>C (p.Glu283Asp) n.564G>C c.922+14G>C (n.922+14G>C) c.933G>C (p.Glu311Asp) | |
| 19 | g.41422711G>T | CA406013432 | BCKDHA | c.936G>T (p.Glu312Asp) c.870G>T (p.Glu290Asp) n.565G>T c.1038G>T (p.Glu346Asp) c.849G>T (p.Glu283Asp) n.564G>T c.922+14G>T (n.922+14G>T) c.933G>T (p.Glu311Asp) | |
| 19 | g.41422712G>A | CA406013433 | BCKDHA | c.937G>A (p.Ala313Thr) c.871G>A (p.Ala291Thr) n.566G>A c.1039G>A (p.Ala347Thr) c.850G>A (p.Ala284Thr) n.565G>A c.922+15G>A (n.922+15G>A) c.934G>A (p.Ala312Thr) | |
| 19 | g.41422712G>C | CA406013434 | BCKDHA | c.937G>C (p.Ala313Pro) c.871G>C (p.Ala291Pro) n.566G>C c.1039G>C (p.Ala347Pro) c.850G>C (p.Ala284Pro) n.565G>C c.922+15G>C (n.922+15G>C) c.934G>C (p.Ala312Pro) | |
| 19 | g.41422712G>T | CA406013435 | BCKDHA | c.937G>T (p.Ala313Ser) c.871G>T (p.Ala291Ser) n.566G>T c.1039G>T (p.Ala347Ser) c.850G>T (p.Ala284Ser) n.565G>T c.922+15G>T (n.922+15G>T) c.934G>T (p.Ala312Ser) | |
| 19 | g.41422713C>A | CA406013436 | BCKDHA | c.938C>A (p.Ala313Asp) c.872C>A (p.Ala291Asp) n.567C>A c.1040C>A (p.Ala347Asp) c.851C>A (p.Ala284Asp) n.566C>A c.922+16C>A (n.922+16C>A) c.935C>A (p.Ala312Asp) | |
| 19 | g.41422713C>G | CA406013437 | BCKDHA | c.938C>G (p.Ala313Gly) c.872C>G (p.Ala291Gly) n.567C>G c.1040C>G (p.Ala347Gly) c.851C>G (p.Ala284Gly) n.566C>G c.922+16C>G (n.922+16C>G) c.935C>G (p.Ala312Gly) | |
| 19 | g.41422713C>T | CA406013438 | BCKDHA | c.938C>T (p.Ala313Val) c.872C>T (p.Ala291Val) n.567C>T c.1040C>T (p.Ala347Val) c.851C>T (p.Ala284Val) n.566C>T c.922+16C>T (n.922+16C>T) c.935C>T (p.Ala312Val) | |
| 19 | g.41422714C>A | CA507690733 | BCKDHA | c.939C>A (p.Ala313=) c.873C>A (p.Ala291=) n.568C>A c.1041C>A (p.Ala347=) c.852C>A (p.Ala284=) n.567C>A c.922+17C>A (n.922+17C>A) c.936C>A (p.Ala312=) | |
| 19 | g.41422714C= | CA2336459239 | BCKDHA | c.939C= (p.Ala313=) c.873C= (p.Ala291=) n.568C= c.1041C= (p.Ala347=) c.852C= (p.Ala284=) n.567C= c.922+17C= (n.922+17C=) c.936C= (p.Ala312=) | |
| 19 | g.41422714C>G | CA507690734 | BCKDHA | c.939C>G (p.Ala313=) c.873C>G (p.Ala291=) n.568C>G c.1041C>G (p.Ala347=) c.852C>G (p.Ala284=) n.567C>G c.922+17C>G (n.922+17C>G) c.936C>G (p.Ala312=) | |
| 19 | g.41422714C>T | CA507690735 | BCKDHA | c.939C>T (p.Ala313=) c.873C>T (p.Ala291=) n.568C>T c.1041C>T (p.Ala347=) c.852C>T (p.Ala284=) n.567C>T c.922+17C>T (n.922+17C>T) c.936C>T (p.Ala312=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422715C>A | CA9461305 | BCKDHA | c.940C>A (p.Arg314=) c.874C>A (p.Arg292=) n.569C>A c.1042C>A (p.Arg348=) c.853C>A (p.Arg285=) n.568C>A c.922+18C>A (n.922+18C>A) c.937C>A (p.Arg313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422715C= | CA2336459240 | BCKDHA | c.940C= (p.Arg314=) c.874C= (p.Arg292=) n.569C= c.1042C= (p.Arg348=) c.853C= (p.Arg285=) n.568C= c.922+18C= (n.922+18C=) c.937C= (p.Arg313=) | |
| 19 | g.41422715C>G | CA406013439 | BCKDHA | c.940C>G (p.Arg314Gly) c.874C>G (p.Arg292Gly) n.569C>G c.1042C>G (p.Arg348Gly) c.853C>G (p.Arg285Gly) n.568C>G c.922+18C>G (n.922+18C>G) c.937C>G (p.Arg313Gly) | |
| 19 | g.41422715C>T | CA354952 | BCKDHA | c.940C>T (p.Arg314Ter) c.874C>T (p.Arg292Ter) n.569C>T c.1042C>T (p.Arg348Ter) c.853C>T (p.Arg285Ter) n.568C>T c.922+18C>T (n.922+18C>T) c.937C>T (p.Arg313Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422716G>A | CA9461306 | BCKDHA | c.941G>A (p.Arg314Gln) c.875G>A (p.Arg292Gln) n.570G>A c.1043G>A (p.Arg348Gln) c.854G>A (p.Arg285Gln) n.569G>A c.922+19G>A (n.922+19G>A) c.938G>A (p.Arg313Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422716G>C | CA406013441 | BCKDHA | c.941G>C (p.Arg314Pro) c.875G>C (p.Arg292Pro) n.570G>C c.1043G>C (p.Arg348Pro) c.854G>C (p.Arg285Pro) n.569G>C c.922+19G>C (n.922+19G>C) c.938G>C (p.Arg313Pro) | |
| 19 | g.41422716G= | CA2336459242 | BCKDHA | c.941G= (p.Arg314=) c.875G= (p.Arg292=) n.570G= c.1043G= (p.Arg348=) c.854G= (p.Arg285=) n.569G= c.922+19G= (n.922+19G=) c.938G= (p.Arg313=) | |
| 19 | g.41422716G>T | CA406013440 | BCKDHA | c.941G>T (p.Arg314Leu) c.875G>T (p.Arg292Leu) n.570G>T c.1043G>T (p.Arg348Leu) c.854G>T (p.Arg285Leu) n.569G>T c.922+19G>T (n.922+19G>T) c.938G>T (p.Arg313Leu) | |
| 19 | g.41422718_41422736dup | CA2336459241 | BCKDHA | c.943_961dup (p.Asn321ThrfsTer26) c.877_895dup (p.Asn299ThrfsTer26) n.572_590dup c.1045_1063dup (p.Asn355ThrfsTer26) c.856_874dup (p.Asn292ThrfsTer26) c.922+21_922+39dup (n.922+21_922+39dup) c.940_958dup (p.Asn320ThrfsTer26) | dbSNP |
| 19 | g.41422717A>C | CA507690736 | BCKDHA | c.942A>C (p.Arg314=) c.876A>C (p.Arg292=) n.571A>C c.1044A>C (p.Arg348=) c.855A>C (p.Arg285=) n.570A>C c.922+20A>C (n.922+20A>C) c.939A>C (p.Arg313=) | |
| 19 | g.41422717A>G | CA507690737 | BCKDHA | c.942A>G (p.Arg314=) c.876A>G (p.Arg292=) n.571A>G c.1044A>G (p.Arg348=) c.855A>G (p.Arg285=) n.570A>G c.922+20A>G (n.922+20A>G) c.939A>G (p.Arg313=) | |
| 19 | g.41422717A>T | CA507690738 | BCKDHA | c.942A>T (p.Arg314=) c.876A>T (p.Arg292=) n.571A>T c.1044A>T (p.Arg348=) c.855A>T (p.Arg285=) n.570A>T c.922+20A>T (n.922+20A>T) c.939A>T (p.Arg313=) | |
| 19 | g.41422718C>A | CA507690739 | BCKDHA | c.943C>A (p.Arg315=) c.877C>A (p.Arg293=) n.572C>A c.1045C>A (p.Arg349=) c.856C>A (p.Arg286=) n.571C>A c.922+21C>A (n.922+21C>A) c.940C>A (p.Arg314=) | |
| 19 | g.41422718C= | CA2336459243 | BCKDHA | c.943C= (p.Arg315=) c.877C= (p.Arg293=) n.572C= c.1045C= (p.Arg349=) c.856C= (p.Arg286=) n.571C= c.922+21C= (n.922+21C=) c.940C= (p.Arg314=) | |
| 19 | g.41422718C>G | CA406013442 | BCKDHA | c.943C>G (p.Arg315Gly) c.877C>G (p.Arg293Gly) n.572C>G c.1045C>G (p.Arg349Gly) c.856C>G (p.Arg286Gly) n.571C>G c.922+21C>G (n.922+21C>G) c.940C>G (p.Arg314Gly) | |
| 19 | g.41422718C>T | CA9461307 | BCKDHA | c.943C>T (p.Arg315Trp) c.877C>T (p.Arg293Trp) n.572C>T c.1045C>T (p.Arg349Trp) c.856C>T (p.Arg286Trp) n.571C>T c.922+21C>T (n.922+21C>T) c.940C>T (p.Arg314Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41422719G>A | CA308524844 | BCKDHA | c.944G>A (p.Arg315Gln) c.878G>A (p.Arg293Gln) n.573G>A c.1046G>A (p.Arg349Gln) c.857G>A (p.Arg286Gln) n.572G>A c.922+22G>A (n.922+22G>A) c.941G>A (p.Arg314Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41422719G>C | CA406013443 | BCKDHA | c.944G>C (p.Arg315Pro) c.878G>C (p.Arg293Pro) n.573G>C c.1046G>C (p.Arg349Pro) c.857G>C (p.Arg286Pro) n.572G>C c.922+22G>C (n.922+22G>C) c.941G>C (p.Arg314Pro) | |
| 19 | g.41422719G= | CA2336459244 | BCKDHA | c.944G= (p.Arg315=) c.878G= (p.Arg293=) n.573G= c.1046G= (p.Arg349=) c.857G= (p.Arg286=) n.572G= c.922+22G= (n.922+22G=) c.941G= (p.Arg314=) | |
| 19 | g.41422719G>T | CA406013444 | BCKDHA | c.944G>T (p.Arg315Leu) c.878G>T (p.Arg293Leu) n.573G>T c.1046G>T (p.Arg349Leu) c.857G>T (p.Arg286Leu) n.572G>T c.922+22G>T (n.922+22G>T) c.941G>T (p.Arg314Leu) | |
| 19 | g.41422722_41422731del | CA2695228768 | BCKDHA | c.947_956del (p.Arg316GlnfsTer11) c.881_890del (p.Arg294GlnfsTer11) n.576_585del c.1049_1058del (p.Arg350GlnfsTer11) c.860_869del (p.Arg287GlnfsTer11) n.575_584del c.922+25_922+34del (n.922+25_922+34del) c.944_953del (p.Arg315GlnfsTer11) | |
| 19 | g.41422720G>A | CA507690740 | BCKDHA | c.945G>A (p.Arg315=) c.879G>A (p.Arg293=) n.574G>A c.1047G>A (p.Arg349=) c.858G>A (p.Arg286=) n.573G>A c.922+23G>A (n.922+23G>A) c.942G>A (p.Arg314=) | |
| 19 | g.41422720G>C | CA507690741 | BCKDHA | c.945G>C (p.Arg315=) c.879G>C (p.Arg293=) n.574G>C c.1047G>C (p.Arg349=) c.858G>C (p.Arg286=) n.573G>C c.922+23G>C (n.922+23G>C) c.942G>C (p.Arg314=) | |
| 19 | g.41422720G>T | CA507690742 | BCKDHA | c.945G>T (p.Arg315=) c.879G>T (p.Arg293=) n.574G>T c.1047G>T (p.Arg349=) c.858G>T (p.Arg286=) n.573G>T c.922+23G>T (n.922+23G>T) c.942G>T (p.Arg314=) | |
| 19 | g.41422721C>A | CA507690743 | BCKDHA | c.946C>A (p.Arg316=) c.880C>A (p.Arg294=) n.575C>A c.1048C>A (p.Arg350=) c.859C>A (p.Arg287=) n.574C>A c.922+24C>A (n.922+24C>A) c.943C>A (p.Arg315=) | |
| 19 | g.41422721C= | CA2336459245 | BCKDHA | c.946C= (p.Arg316=) c.880C= (p.Arg294=) n.575C= c.1048C= (p.Arg350=) c.859C= (p.Arg287=) n.574C= c.922+24C= (n.922+24C=) c.943C= (p.Arg315=) | |
| 19 | g.41422721C>G | CA406013445 | BCKDHA | c.946C>G (p.Arg316Gly) c.880C>G (p.Arg294Gly) n.575C>G c.1048C>G (p.Arg350Gly) c.859C>G (p.Arg287Gly) n.574C>G c.922+24C>G (n.922+24C>G) c.943C>G (p.Arg315Gly) | |
| 19 | g.41422721C>T | CA9461308 | BCKDHA | c.946C>T (p.Arg316Trp) c.880C>T (p.Arg294Trp) n.575C>T c.1048C>T (p.Arg350Trp) c.859C>T (p.Arg287Trp) n.574C>T c.922+24C>T (n.922+24C>T) c.943C>T (p.Arg315Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41422722G>A | CA406013446 | BCKDHA | c.947G>A (p.Arg316Gln) c.881G>A (p.Arg294Gln) n.576G>A c.1049G>A (p.Arg350Gln) c.860G>A (p.Arg287Gln) n.575G>A c.922+25G>A (n.922+25G>A) c.944G>A (p.Arg315Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422722G>C | CA406013447 | BCKDHA | c.947G>C (p.Arg316Pro) c.881G>C (p.Arg294Pro) n.576G>C c.1049G>C (p.Arg350Pro) c.860G>C (p.Arg287Pro) n.575G>C c.922+25G>C (n.922+25G>C) c.944G>C (p.Arg315Pro) | |
| 19 | g.41422722G= | CA2336459246 | BCKDHA | c.947G= (p.Arg316=) c.881G= (p.Arg294=) n.576G= c.1049G= (p.Arg350=) c.860G= (p.Arg287=) n.575G= c.922+25G= (n.922+25G=) c.944G= (p.Arg315=) | |
| 19 | g.41422722G>T | CA308524861 | BCKDHA | c.947G>T (p.Arg316Leu) c.881G>T (p.Arg294Leu) n.576G>T c.1049G>T (p.Arg350Leu) c.860G>T (p.Arg287Leu) n.575G>T c.922+25G>T (n.922+25G>T) c.944G>T (p.Arg315Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422723G>A | CA507690744 | BCKDHA | c.948G>A (p.Arg316=) c.882G>A (p.Arg294=) n.577G>A c.1050G>A (p.Arg350=) c.861G>A (p.Arg287=) n.576G>A c.922+26G>A (n.922+26G>A) c.945G>A (p.Arg315=) | |
| 19 | g.41422723G>C | CA507690745 | BCKDHA | c.948G>C (p.Arg316=) c.882G>C (p.Arg294=) n.577G>C c.1050G>C (p.Arg350=) c.861G>C (p.Arg287=) n.576G>C c.922+26G>C (n.922+26G>C) c.945G>C (p.Arg315=) |