| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2167896A= | CA1948007231 | TH | c.614T= (p.Leu205=) c.*303T= (n.*303T=) c.695T= (p.Leu232=) c.707T= (p.Leu236=) c.54T= n.363T= c.626T= (p.Leu209=) | |
| 11 | g.2167896A>C | CA379128069 | TH | c.614T>G (p.Leu205Arg) c.*303T>G (n.*303T>G) c.695T>G (p.Leu232Arg) c.707T>G (p.Leu236Arg) c.54T>G n.363T>G c.626T>G (p.Leu209Arg) | |
| 11 | g.2167896A>G | CA341191 | TH | c.614T>C (p.Leu205Pro) c.*303T>C (n.*303T>C) c.695T>C (p.Leu232Pro) c.707T>C (p.Leu236Pro) c.54T>C n.363T>C c.626T>C (p.Leu209Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167896A>T | CA379128067 | TH | c.614T>A (p.Leu205Gln) c.*303T>A (n.*303T>A) c.695T>A (p.Leu232Gln) c.707T>A (p.Leu236Gln) c.54T>A n.363T>A c.626T>A (p.Leu209Gln) | |
| 11 | g.2167897G>A | CA472035152 | TH | c.613C>T (p.Leu205=) c.*302C>T (n.*302C>T) c.694C>T (p.Leu232=) c.706C>T (p.Leu236=) c.53C>T n.362C>T c.625C>T (p.Leu209=) | ClinVar dbSNP |
| 11 | g.2167897G>C | CA379128071 | TH | c.613C>G (p.Leu205Val) c.*302C>G (n.*302C>G) c.694C>G (p.Leu232Val) c.706C>G (p.Leu236Val) c.53C>G n.362C>G c.625C>G (p.Leu209Val) | |
| 11 | g.2167897G= | CA1948007232 | TH | c.613C= (p.Leu205=) c.*302C= (n.*302C=) c.694C= (p.Leu232=) c.706C= (p.Leu236=) c.53C= n.362C= c.625C= (p.Leu209=) | |
| 11 | g.2167897G>T | CA379128073 | TH | c.613C>A (p.Leu205Met) c.*302C>A (n.*302C>A) c.694C>A (p.Leu232Met) c.706C>A (p.Leu236Met) c.53C>A n.362C>A c.625C>A (p.Leu209Met) | gnomAD v4 |
| 11 | g.2167898C>A | CA379128076 | TH | c.612G>T (p.Lys204Asn) c.*301G>T (n.*301G>T) c.693G>T (p.Lys231Asn) c.705G>T (p.Lys235Asn) c.52G>T n.361G>T c.624G>T (p.Lys208Asn) | gnomAD v4 |
| 11 | g.2167898C>G | CA379128077 | TH | c.612G>C (p.Lys204Asn) c.*301G>C (n.*301G>C) c.693G>C (p.Lys231Asn) c.705G>C (p.Lys235Asn) c.52G>C n.361G>C c.624G>C (p.Lys208Asn) | gnomAD v4 COSMIC |
| 11 | g.2167898C>T | CA472035154 | TH | c.612G>A (p.Lys204=) c.*301G>A (n.*301G>A) c.693G>A (p.Lys231=) c.705G>A (p.Lys235=) c.52G>A n.361G>A c.624G>A (p.Lys208=) | |
| 11 | g.2167899T>A | CA379128080 | TH | c.611A>T (p.Lys204Met) c.*300A>T (n.*300A>T) c.692A>T (p.Lys231Met) c.704A>T (p.Lys235Met) c.51A>T n.360A>T c.623A>T (p.Lys208Met) | |
| 11 | g.2167899T>C | CA5818578 | TH | c.611A>G (p.Lys204Arg) c.*300A>G (n.*300A>G) c.692A>G (p.Lys231Arg) c.704A>G (p.Lys235Arg) c.51A>G n.360A>G c.623A>G (p.Lys208Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167899T>G | CA379128082 | TH | c.611A>C (p.Lys204Thr) c.*300A>C (n.*300A>C) c.692A>C (p.Lys231Thr) c.704A>C (p.Lys235Thr) c.51A>C n.360A>C c.623A>C (p.Lys208Thr) | |
| 11 | g.2167899T= | CA1948007233 | TH | c.611A= (p.Lys204=) c.*300A= (n.*300A=) c.692A= (p.Lys231=) c.704A= (p.Lys235=) c.51A= n.360A= c.623A= (p.Lys208=) | |
| 11 | g.2167900T>A | CA379128085 | TH | c.610A>T (p.Lys204Ter) c.*299A>T (n.*299A>T) c.691A>T (p.Lys231Ter) c.703A>T (p.Lys235Ter) c.50A>T n.359A>T c.622A>T (p.Lys208Ter) | |
| 11 | g.2167900T>C | CA379128089 | TH | c.610A>G (p.Lys204Glu) c.*299A>G (n.*299A>G) c.691A>G (p.Lys231Glu) c.703A>G (p.Lys235Glu) c.50A>G n.359A>G c.622A>G (p.Lys208Glu) | |
| 11 | g.2167900T>G | CA379128086 | TH | c.610A>C (p.Lys204Gln) c.*299A>C (n.*299A>C) c.691A>C (p.Lys231Gln) c.703A>C (p.Lys235Gln) c.50A>C n.359A>C c.622A>C (p.Lys208Gln) | gnomAD v4 |
| 11 | g.2167901C>A | CA379128092 | TH | c.609G>T (p.Arg203Ser) c.*298G>T (n.*298G>T) c.690G>T (p.Arg230Ser) c.702G>T (p.Arg234Ser) c.49G>T n.358G>T c.621G>T (p.Arg207Ser) | |
| 11 | g.2167901C= | CA1948007235 | TH | c.609G= (p.Arg203=) c.*298G= (n.*298G=) c.690G= (p.Arg230=) c.702G= (p.Arg234=) c.49G= n.358G= c.621G= (p.Arg207=) | |
| 11 | g.2167901C>G | CA379128093 | TH | c.609G>C (p.Arg203Ser) c.*298G>C (n.*298G>C) c.690G>C (p.Arg230Ser) c.702G>C (p.Arg234Ser) c.49G>C n.358G>C c.621G>C (p.Arg207Ser) | |
| 11 | g.2167901C>T | CA472035157 | TH | c.609G>A (p.Arg203=) c.*298G>A (n.*298G>A) c.690G>A (p.Arg230=) c.702G>A (p.Arg234=) c.49G>A n.358G>A c.621G>A (p.Arg207=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.2167902C>A | CA379128096 | TH | c.608G>T (p.Arg203Met) c.*297G>T (n.*297G>T) c.689G>T (p.Arg230Met) c.701G>T (p.Arg234Met) c.48G>T n.357G>T c.620G>T (p.Arg207Met) | |
| 11 | g.2167902C= | CA1948007236 | TH | c.608G= (p.Arg203=) c.*297G= (n.*297G=) c.689G= (p.Arg230=) c.701G= (p.Arg234=) c.48G= n.357G= c.620G= (p.Arg207=) | |
| 11 | g.2167902C>G | CA379128098 | TH | c.608G>C (p.Arg203Thr) c.*297G>C (n.*297G>C) c.689G>C (p.Arg230Thr) c.701G>C (p.Arg234Thr) c.48G>C n.357G>C c.620G>C (p.Arg207Thr) | |
| 11 | g.2167902C>T | CA216286513 | TH | c.608G>A (p.Arg203Lys) c.*297G>A (n.*297G>A) c.689G>A (p.Arg230Lys) c.701G>A (p.Arg234Lys) c.48G>A n.357G>A c.620G>A (p.Arg207Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167903T>A | CA379128100 | TH | c.607A>T (p.Arg203Trp) c.*296A>T (n.*296A>T) c.688A>T (p.Arg230Trp) c.700A>T (p.Arg234Trp) c.47A>T n.356A>T c.619A>T (p.Arg207Trp) | |
| 11 | g.2167903T>C | CA379128102 | TH | c.607A>G (p.Arg203Gly) c.*296A>G (n.*296A>G) c.688A>G (p.Arg230Gly) c.700A>G (p.Arg234Gly) c.47A>G n.356A>G c.619A>G (p.Arg207Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2167903T>G | CA472035159 | TH | c.607A>C (p.Arg203=) c.*296A>C (n.*296A>C) c.688A>C (p.Arg230=) c.700A>C (p.Arg234=) c.47A>C n.356A>C c.619A>C (p.Arg207=) | |
| 11 | g.2167903T= | CA1948007237 | TH | c.607A= (p.Arg203=) c.*296A= (n.*296A=) c.688A= (p.Arg230=) c.700A= (p.Arg234=) c.47A= n.356A= c.619A= (p.Arg207=) | |
| 11 | g.2167904G>A | CA472035160 | TH | c.606C>T (p.Arg202=) c.*295C>T (n.*295C>T) c.687C>T (p.Arg229=) c.699C>T (p.Arg233=) c.46C>T n.355C>T c.618C>T (p.Arg206=) | |
| 11 | g.2167904G>C | CA472035161 | TH | c.606C>G (p.Arg202=) c.*295C>G (n.*295C>G) c.687C>G (p.Arg229=) c.699C>G (p.Arg233=) c.46C>G n.355C>G c.618C>G (p.Arg206=) | gnomAD v4 |
| 11 | g.2167904G>T | CA472035162 | TH | c.606C>A (p.Arg202=) c.*295C>A (n.*295C>A) c.687C>A (p.Arg229=) c.699C>A (p.Arg233=) c.46C>A n.355C>A c.618C>A (p.Arg206=) | |
| 11 | g.2167905C>A | CA379128106 | TH | c.605G>T (p.Arg202Leu) c.*294G>T (n.*294G>T) c.686G>T (p.Arg229Leu) c.698G>T (p.Arg233Leu) c.45G>T n.354G>T c.617G>T (p.Arg206Leu) | |
| 11 | g.2167905C= | CA1948007238 | TH | c.605G= (p.Arg202=) c.*294G= (n.*294G=) c.686G= (p.Arg229=) c.698G= (p.Arg233=) c.45G= n.354G= c.617G= (p.Arg206=) | |
| 11 | g.2167905C>G | CA379128109 | TH | c.605G>C (p.Arg202Pro) c.*294G>C (n.*294G>C) c.686G>C (p.Arg229Pro) c.698G>C (p.Arg233Pro) c.45G>C n.354G>C c.617G>C (p.Arg206Pro) | dbSNP gnomAD v4 |
| 11 | g.2167905C>T | CA341192 | TH | c.605G>A (p.Arg202His) c.*294G>A (n.*294G>A) c.686G>A (p.Arg229His) c.698G>A (p.Arg233His) c.45G>A n.354G>A c.617G>A (p.Arg206His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167906G>A | CA379128112 | TH | c.604C>T (p.Arg202Cys) c.*293C>T (n.*293C>T) c.685C>T (p.Arg229Cys) c.697C>T (p.Arg233Cys) c.44C>T n.353C>T c.616C>T (p.Arg206Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2167906G>C | CA216286519 | TH | c.604C>G (p.Arg202Gly) c.*293C>G (n.*293C>G) c.685C>G (p.Arg229Gly) c.697C>G (p.Arg233Gly) c.44C>G n.353C>G c.616C>G (p.Arg206Gly) | dbSNP gnomAD v4 |
| 11 | g.2167906G= | CA1948007240 | TH | c.604C= (p.Arg202=) c.*293C= (n.*293C=) c.685C= (p.Arg229=) c.697C= (p.Arg233=) c.44C= n.353C= c.616C= (p.Arg206=) | |
| 11 | g.2167906G>T | CA379128115 | TH | c.604C>A (p.Arg202Ser) c.*293C>A (n.*293C>A) c.685C>A (p.Arg229Ser) c.697C>A (p.Arg233Ser) c.44C>A n.353C>A c.616C>A (p.Arg206Ser) | |
| 11 | g.2167907C>A | CA379128116 | TH | c.603G>T (p.Gln201His) c.*292G>T (n.*292G>T) c.684G>T (p.Gln228His) c.696G>T (p.Gln232His) c.43G>T n.352G>T c.615G>T (p.Gln205His) | |
| 11 | g.2167907C>G | CA379128118 | TH | c.603G>C (p.Gln201His) c.*292G>C (n.*292G>C) c.684G>C (p.Gln228His) c.696G>C (p.Gln232His) c.43G>C n.352G>C c.615G>C (p.Gln205His) | |
| 11 | g.2167907C>T | CA472035165 | TH | c.603G>A (p.Gln201=) c.*292G>A (n.*292G>A) c.684G>A (p.Gln228=) c.696G>A (p.Gln232=) c.43G>A n.352G>A c.615G>A (p.Gln205=) | gnomAD v4 |
| 11 | g.2167908T>A | CA379128122 | TH | c.602A>T (p.Gln201Leu) c.*291A>T (n.*291A>T) c.683A>T (p.Gln228Leu) c.695A>T (p.Gln232Leu) c.42A>T n.351A>T c.614A>T (p.Gln205Leu) | |
| 11 | g.2167908T>C | CA379128124 | TH | c.602A>G (p.Gln201Arg) c.*291A>G (n.*291A>G) c.683A>G (p.Gln228Arg) c.695A>G (p.Gln232Arg) c.42A>G n.351A>G c.614A>G (p.Gln205Arg) | |
| 11 | g.2167908T>G | CA379128127 | TH | c.602A>C (p.Gln201Pro) c.*291A>C (n.*291A>C) c.683A>C (p.Gln228Pro) c.695A>C (p.Gln232Pro) c.42A>C n.351A>C c.614A>C (p.Gln205Pro) | |
| 11 | g.2167909G>A | CA16041465 | TH | c.601C>T (p.Gln201Ter) c.*290C>T (n.*290C>T) c.682C>T (p.Gln228Ter) c.694C>T (p.Gln232Ter) c.41C>T n.350C>T c.613C>T (p.Gln205Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167909G>C | CA379128134 | TH | c.601C>G (p.Gln201Glu) c.*290C>G (n.*290C>G) c.682C>G (p.Gln228Glu) c.694C>G (p.Gln232Glu) c.41C>G n.350C>G c.613C>G (p.Gln205Glu) | |
| 11 | g.2167909G= | CA1948007241 | TH | c.601C= (p.Gln201=) c.*290C= (n.*290C=) c.682C= (p.Gln228=) c.694C= (p.Gln232=) c.41C= n.350C= c.613C= (p.Gln205=) |