Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108210436C>A | CA388619863 | LIG4 | c.632G>T (p.Arg211Leu) c.833G>T (p.Arg278Leu) c.869G>T (p.Arg290Leu) c.845G>T (p.Arg282Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210436C= | CA2117794642 | LIG4 | c.632G= (p.Arg211=) c.833G= (p.Arg278=) c.869G= (p.Arg290=) c.845G= (p.Arg282=) | |
13 | g.108210436C>G | CA388619865 | LIG4 | c.632G>C (p.Arg211Pro) c.833G>C (p.Arg278Pro) c.869G>C (p.Arg290Pro) c.845G>C (p.Arg282Pro) | ClinVar gnomAD v4 |
13 | g.108210436C>T | CA118981 | LIG4 | c.632G>A (p.Arg211His) c.833G>A (p.Arg278His) c.869G>A (p.Arg290His) c.845G>A (p.Arg282His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108210437G>A | CA7043793 | LIG4 | c.631C>T (p.Arg211Cys) c.832C>T (p.Arg278Cys) c.868C>T (p.Arg290Cys) c.844C>T (p.Arg282Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210437G>C | CA388619889 | LIG4 | c.631C>G (p.Arg211Gly) c.832C>G (p.Arg278Gly) c.868C>G (p.Arg290Gly) c.844C>G (p.Arg282Gly) | ClinVar dbSNP |
13 | g.108210437G= | CA2117794643 | LIG4 | c.631C= (p.Arg211=) c.832C= (p.Arg278=) c.868C= (p.Arg290=) c.844C= (p.Arg282=) | |
13 | g.108210437G>T | CA388619895 | LIG4 | c.631C>A (p.Arg211Ser) c.832C>A (p.Arg278Ser) c.868C>A (p.Arg290Ser) c.844C>A (p.Arg282Ser) | ClinVar |
13 | g.108210438T>A | CA388619897 | LIG4 | c.630A>T (p.Glu210Asp) c.831A>T (p.Glu277Asp) c.867A>T (p.Glu289Asp) c.843A>T (p.Glu281Asp) | |
13 | g.108210438T>C | CA484976083 | LIG4 | c.630A>G (p.Glu210=) c.831A>G (p.Glu277=) c.867A>G (p.Glu289=) c.843A>G (p.Glu281=) | |
13 | g.108210438T>G | CA388619905 | LIG4 | c.630A>C (p.Glu210Asp) c.831A>C (p.Glu277Asp) c.867A>C (p.Glu289Asp) c.843A>C (p.Glu281Asp) | |
13 | g.108210439T>A | CA388619909 | LIG4 | c.629A>T (p.Glu210Val) c.830A>T (p.Glu277Val) c.866A>T (p.Glu289Val) c.842A>T (p.Glu281Val) | |
13 | g.108210439T>C | CA388619912 | LIG4 | c.629A>G (p.Glu210Gly) c.830A>G (p.Glu277Gly) c.866A>G (p.Glu289Gly) c.842A>G (p.Glu281Gly) | dbSNP |
13 | g.108210439T>G | CA388619913 | LIG4 | c.629A>C (p.Glu210Ala) c.830A>C (p.Glu277Ala) c.866A>C (p.Glu289Ala) c.842A>C (p.Glu281Ala) | |
13 | g.108210439T= | CA2117794644 | LIG4 | c.629A= (p.Glu210=) c.830A= (p.Glu277=) c.866A= (p.Glu289=) c.842A= (p.Glu281=) | |
13 | g.108210440C>A | CA388619916 | LIG4 | c.628G>T (p.Glu210Ter) c.829G>T (p.Glu277Ter) c.865G>T (p.Glu289Ter) c.841G>T (p.Glu281Ter) | |
13 | g.108210440C>G | CA388619917 | LIG4 | c.628G>C (p.Glu210Gln) c.829G>C (p.Glu277Gln) c.865G>C (p.Glu289Gln) c.841G>C (p.Glu281Gln) | |
13 | g.108210440C>T | CA388619918 | LIG4 | c.628G>A (p.Glu210Lys) c.829G>A (p.Glu277Lys) c.865G>A (p.Glu289Lys) c.841G>A (p.Glu281Lys) | |
13 | g.108210441A>C | CA484976088 | LIG4 | c.627T>G (p.Gly209=) c.828T>G (p.Gly276=) c.864T>G (p.Gly288=) c.840T>G (p.Gly280=) | |
13 | g.108210441A>G | CA484976087 | LIG4 | c.627T>C (p.Gly209=) c.828T>C (p.Gly276=) c.864T>C (p.Gly288=) c.840T>C (p.Gly280=) | dbSNP |
13 | g.108210441A>T | CA484976086 | LIG4 | c.627T>A (p.Gly209=) c.828T>A (p.Gly276=) c.864T>A (p.Gly288=) c.840T>A (p.Gly280=) | |
13 | g.108210442C>A | CA388619938 | LIG4 | c.626G>T (p.Gly209Val) c.827G>T (p.Gly276Val) c.863G>T (p.Gly288Val) c.839G>T (p.Gly280Val) | dbSNP |
13 | g.108210442C= | CA2117794645 | LIG4 | c.626G= (p.Gly209=) c.827G= (p.Gly276=) c.863G= (p.Gly288=) c.839G= (p.Gly280=) | |
13 | g.108210442C>G | CA388619920 | LIG4 | c.626G>C (p.Gly209Ala) c.827G>C (p.Gly276Ala) c.863G>C (p.Gly288Ala) c.839G>C (p.Gly280Ala) | |
13 | g.108210442C>T | CA7043794 | LIG4 | c.626G>A (p.Gly209Asp) c.827G>A (p.Gly276Asp) c.863G>A (p.Gly288Asp) c.839G>A (p.Gly280Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108210443C>A | CA388619944 | LIG4 | c.625G>T (p.Gly209Cys) c.826G>T (p.Gly276Cys) c.862G>T (p.Gly288Cys) c.838G>T (p.Gly280Cys) | |
13 | g.108210443C>G | CA388619945 | LIG4 | c.625G>C (p.Gly209Arg) c.826G>C (p.Gly276Arg) c.862G>C (p.Gly288Arg) c.838G>C (p.Gly280Arg) | |
13 | g.108210443C>T | CA388619946 | LIG4 | c.625G>A (p.Gly209Ser) c.826G>A (p.Gly276Ser) c.862G>A (p.Gly288Ser) c.838G>A (p.Gly280Ser) | gnomAD v4 |
13 | g.108210444A>C | CA388619947 | LIG4 | c.624T>G (p.Asp208Glu) c.825T>G (p.Asp275Glu) c.861T>G (p.Asp287Glu) c.837T>G (p.Asp279Glu) | |
13 | g.108210444A>G | CA484976092 | LIG4 | c.624T>C (p.Asp208=) c.825T>C (p.Asp275=) c.861T>C (p.Asp287=) c.837T>C (p.Asp279=) | |
13 | g.108210444A>T | CA388619949 | LIG4 | c.624T>A (p.Asp208Glu) c.825T>A (p.Asp275Glu) c.861T>A (p.Asp287Glu) c.837T>A (p.Asp279Glu) | |
13 | g.108210445T>A | CA388619952 | LIG4 | c.623A>T (p.Asp208Val) c.824A>T (p.Asp275Val) c.860A>T (p.Asp287Val) c.836A>T (p.Asp279Val) | |
13 | g.108210445T>C | CA388619954 | LIG4 | c.623A>G (p.Asp208Gly) c.824A>G (p.Asp275Gly) c.860A>G (p.Asp287Gly) c.836A>G (p.Asp279Gly) | gnomAD v4 |
13 | g.108210445T>G | CA388619953 | LIG4 | c.623A>C (p.Asp208Ala) c.824A>C (p.Asp275Ala) c.860A>C (p.Asp287Ala) c.836A>C (p.Asp279Ala) | |
13 | g.108210446C>A | CA388619955 | LIG4 | c.622G>T (p.Asp208Tyr) c.823G>T (p.Asp275Tyr) c.859G>T (p.Asp287Tyr) c.835G>T (p.Asp279Tyr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210446C= | CA2117794646 | LIG4 | c.622G= (p.Asp208=) c.823G= (p.Asp275=) c.859G= (p.Asp287=) c.835G= (p.Asp279=) | |
13 | g.108210446C>G | CA388619959 | LIG4 | c.622G>C (p.Asp208His) c.823G>C (p.Asp275His) c.859G>C (p.Asp287His) c.835G>C (p.Asp279His) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108210446C>T | CA388619960 | LIG4 | c.622G>A (p.Asp208Asn) c.823G>A (p.Asp275Asn) c.859G>A (p.Asp287Asn) c.835G>A (p.Asp279Asn) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210447T>A | CA484976098 | LIG4 | c.621A>T (p.Leu207=) c.822A>T (p.Leu274=) c.858A>T (p.Leu286=) c.834A>T (p.Leu278=) | |
13 | g.108210447T>C | CA484976100 | LIG4 | c.621A>G (p.Leu207=) c.822A>G (p.Leu274=) c.858A>G (p.Leu286=) c.834A>G (p.Leu278=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108210447T>G | CA484976101 | LIG4 | c.621A>C (p.Leu207=) c.822A>C (p.Leu274=) c.858A>C (p.Leu286=) c.834A>C (p.Leu278=) | |
13 | g.108210447T= | CA2117794647 | LIG4 | c.621A= (p.Leu207=) c.822A= (p.Leu274=) c.858A= (p.Leu286=) c.834A= (p.Leu278=) | |
13 | g.108210448A>C | CA388619961 | LIG4 | c.620T>G (p.Leu207Arg) c.821T>G (p.Leu274Arg) c.857T>G (p.Leu286Arg) c.833T>G (p.Leu278Arg) | |
13 | g.108210448A>G | CA388619962 | LIG4 | c.620T>C (p.Leu207Pro) c.821T>C (p.Leu274Pro) c.857T>C (p.Leu286Pro) c.833T>C (p.Leu278Pro) | |
13 | g.108210448A>T | CA388619969 | LIG4 | c.620T>A (p.Leu207Gln) c.821T>A (p.Leu274Gln) c.857T>A (p.Leu286Gln) c.833T>A (p.Leu278Gln) | |
13 | g.108210449G>A | CA484976102 | LIG4 | c.619C>T (p.Leu207=) c.820C>T (p.Leu274=) c.856C>T (p.Leu286=) c.832C>T (p.Leu278=) | |
13 | g.108210449G>C | CA388619974 | LIG4 | c.619C>G (p.Leu207Val) c.820C>G (p.Leu274Val) c.856C>G (p.Leu286Val) c.832C>G (p.Leu278Val) | |
13 | g.108210449G>T | CA388619978 | LIG4 | c.619C>A (p.Leu207Ile) c.820C>A (p.Leu274Ile) c.856C>A (p.Leu286Ile) c.832C>A (p.Leu278Ile) | gnomAD v4 |
13 | g.108210450C>A | CA388619996 | LIG4 | c.618G>T (p.Lys206Asn) c.819G>T (p.Lys273Asn) c.855G>T (p.Lys285Asn) c.831G>T (p.Lys277Asn) | |
13 | g.108210450C= | CA2117794648 | LIG4 | c.618G= (p.Lys206=) c.819G= (p.Lys273=) c.855G= (p.Lys285=) c.831G= (p.Lys277=) |