| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422704C>A | CA406013415 | BCKDHA | c.929C>A (p.Thr310Lys) c.863C>A (p.Thr288Lys) n.558C>A c.1031C>A (p.Thr344Lys) c.842C>A (p.Thr281Lys) n.557C>A c.922+7C>A (n.922+7C>A) c.926C>A (p.Thr309Lys) | |
| 19 | g.41422704C= | CA2336459236 | BCKDHA | c.929C= (p.Thr310=) c.863C= (p.Thr288=) n.558C= c.1031C= (p.Thr344=) c.842C= (p.Thr281=) n.557C= c.922+7C= (n.922+7C=) c.926C= (p.Thr309=) | |
| 19 | g.41422704C>G | CA115518 | BCKDHA | c.929C>G (p.Thr310Arg) c.863C>G (p.Thr288Arg) n.558C>G c.1031C>G (p.Thr344Arg) c.842C>G (p.Thr281Arg) n.557C>G c.922+7C>G (n.922+7C>G) c.926C>G (p.Thr309Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422704C>T | CA406013416 | BCKDHA | c.929C>T (p.Thr310Ile) c.863C>T (p.Thr288Ile) n.558C>T c.1031C>T (p.Thr344Ile) c.842C>T (p.Thr281Ile) n.557C>T c.922+7C>T (n.922+7C>T) c.926C>T (p.Thr309Ile) | dbSNP gnomAD v4 |
| 19 | g.41422705A>C | CA507690728 | BCKDHA | c.930A>C (p.Thr310=) c.864A>C (p.Thr288=) n.559A>C c.1032A>C (p.Thr344=) c.843A>C (p.Thr281=) n.558A>C c.922+8A>C (n.922+8A>C) c.927A>C (p.Thr309=) | |
| 19 | g.41422705A>G | CA507690729 | BCKDHA | c.930A>G (p.Thr310=) c.864A>G (p.Thr288=) n.559A>G c.1032A>G (p.Thr344=) c.843A>G (p.Thr281=) n.558A>G c.922+8A>G (n.922+8A>G) c.927A>G (p.Thr309=) | |
| 19 | g.41422705A>T | CA507690730 | BCKDHA | c.930A>T (p.Thr310=) c.864A>T (p.Thr288=) n.559A>T c.1032A>T (p.Thr344=) c.843A>T (p.Thr281=) n.558A>T c.922+8A>T (n.922+8A>T) c.927A>T (p.Thr309=) | |
| 19 | g.41422706A= | CA2336459237 | BCKDHA | c.931A= (p.Lys311=) c.865A= (p.Lys289=) n.560A= c.1033A= (p.Lys345=) c.844A= (p.Lys282=) n.559A= c.922+9A= (n.922+9A=) c.928A= (p.Lys310=) | |
| 19 | g.41422706A>C | CA406013417 | BCKDHA | c.931A>C (p.Lys311Gln) c.865A>C (p.Lys289Gln) n.560A>C c.1033A>C (p.Lys345Gln) c.844A>C (p.Lys282Gln) n.559A>C c.922+9A>C (n.922+9A>C) c.928A>C (p.Lys310Gln) | |
| 19 | g.41422706A>G | CA406013418 | BCKDHA | c.931A>G (p.Lys311Glu) c.865A>G (p.Lys289Glu) n.560A>G c.1033A>G (p.Lys345Glu) c.844A>G (p.Lys282Glu) n.559A>G c.922+9A>G (n.922+9A>G) c.928A>G (p.Lys310Glu) | gnomAD v4 |
| 19 | g.41422706A>T | CA406013419 | BCKDHA | c.931A>T (p.Lys311Ter) c.865A>T (p.Lys289Ter) n.560A>T c.1033A>T (p.Lys345Ter) c.844A>T (p.Lys282Ter) n.559A>T c.922+9A>T (n.922+9A>T) c.928A>T (p.Lys310Ter) | ClinVar dbSNP |
| 19 | g.41422707A= | CA2336459238 | BCKDHA | c.932A= (p.Lys311=) c.866A= (p.Lys289=) n.561A= c.1034A= (p.Lys345=) c.845A= (p.Lys282=) n.560A= c.922+10A= (n.922+10A=) c.929A= (p.Lys310=) | |
| 19 | g.41422707A>C | CA406013422 | BCKDHA | c.932A>C (p.Lys311Thr) c.866A>C (p.Lys289Thr) n.561A>C c.1034A>C (p.Lys345Thr) c.845A>C (p.Lys282Thr) n.560A>C c.922+10A>C (n.922+10A>C) c.929A>C (p.Lys310Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41422707A>G | CA406013420 | BCKDHA | c.932A>G (p.Lys311Arg) c.866A>G (p.Lys289Arg) n.561A>G c.1034A>G (p.Lys345Arg) c.845A>G (p.Lys282Arg) n.560A>G c.922+10A>G (n.922+10A>G) c.929A>G (p.Lys310Arg) | |
| 19 | g.41422707A>T | CA406013421 | BCKDHA | c.932A>T (p.Lys311Met) c.866A>T (p.Lys289Met) n.561A>T c.1034A>T (p.Lys345Met) c.845A>T (p.Lys282Met) n.560A>T c.922+10A>T (n.922+10A>T) c.929A>T (p.Lys310Met) | |
| 19 | g.41422708G>A | CA507690731 | BCKDHA | c.933G>A (p.Lys311=) c.867G>A (p.Lys289=) n.562G>A c.1035G>A (p.Lys345=) c.846G>A (p.Lys282=) n.561G>A c.922+11G>A (n.922+11G>A) c.930G>A (p.Lys310=) | |
| 19 | g.41422708G>C | CA406013423 | BCKDHA | c.933G>C (p.Lys311Asn) c.867G>C (p.Lys289Asn) n.562G>C c.1035G>C (p.Lys345Asn) c.846G>C (p.Lys282Asn) n.561G>C c.922+11G>C (n.922+11G>C) c.930G>C (p.Lys310Asn) | |
| 19 | g.41422708G>T | CA406013424 | BCKDHA | c.933G>T (p.Lys311Asn) c.867G>T (p.Lys289Asn) n.562G>T c.1035G>T (p.Lys345Asn) c.846G>T (p.Lys282Asn) n.561G>T c.922+11G>T (n.922+11G>T) c.930G>T (p.Lys310Asn) | |
| 19 | g.41422709G>A | CA406013425 | BCKDHA | c.934G>A (p.Glu312Lys) c.868G>A (p.Glu290Lys) n.563G>A c.1036G>A (p.Glu346Lys) c.847G>A (p.Glu283Lys) n.562G>A c.922+12G>A (n.922+12G>A) c.931G>A (p.Glu311Lys) | |
| 19 | g.41422709G>C | CA406013426 | BCKDHA | c.934G>C (p.Glu312Gln) c.868G>C (p.Glu290Gln) n.563G>C c.1036G>C (p.Glu346Gln) c.847G>C (p.Glu283Gln) n.562G>C c.922+12G>C (n.922+12G>C) c.931G>C (p.Glu311Gln) | |
| 19 | g.41422709G>T | CA406013427 | BCKDHA | c.934G>T (p.Glu312Ter) c.868G>T (p.Glu290Ter) n.563G>T c.1036G>T (p.Glu346Ter) c.847G>T (p.Glu283Ter) n.562G>T c.922+12G>T (n.922+12G>T) c.931G>T (p.Glu311Ter) | |
| 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=) |