Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108208838_108208843delinsTGAGAG | CA2117793940 | LIG4 | c.2225_2230delinsCTCTCA (p.Pro742=) c.2426_2431delinsCTCTCA (p.Pro809=) c.2462_2467delinsCTCTCA (p.Pro821=) c.2438_2443delinsCTCTCA (p.Pro813=) | |
13 | g.108208844_108208848del | CA960044961 | LIG4 | c.2225_2229del (p.Pro742GlnfsTer17) c.2426_2430del (p.Pro809GlnfsTer17) c.2462_2466del (p.Pro821GlnfsTer17) c.2438_2442del (p.Pro813GlnfsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208840A>C | CA388613179 | LIG4 | c.2228T>G (p.Leu743Arg) c.2429T>G (p.Leu810Arg) c.2465T>G (p.Leu822Arg) c.2441T>G (p.Leu814Arg) | |
13 | g.108208840A>G | CA388613180 | LIG4 | c.2228T>C (p.Leu743Pro) c.2429T>C (p.Leu810Pro) c.2465T>C (p.Leu822Pro) c.2441T>C (p.Leu814Pro) | |
13 | g.108208840A>T | CA388613182 | LIG4 | c.2228T>A (p.Leu743His) c.2429T>A (p.Leu810His) c.2465T>A (p.Leu822His) c.2441T>A (p.Leu814His) | |
13 | g.108208841G>A | CA7043504 | LIG4 | c.2227C>T (p.Leu743Phe) c.2428C>T (p.Leu810Phe) c.2464C>T (p.Leu822Phe) c.2440C>T (p.Leu814Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208841G>C | CA388613185 | LIG4 | c.2227C>G (p.Leu743Val) c.2428C>G (p.Leu810Val) c.2464C>G (p.Leu822Val) c.2440C>G (p.Leu814Val) | COSMIC |
13 | g.108208841G= | CA2117793942 | LIG4 | c.2227C= (p.Leu743=) c.2428C= (p.Leu810=) c.2464C= (p.Leu822=) c.2440C= (p.Leu814=) | |
13 | g.108208841G>T | CA388613186 | LIG4 | c.2227C>A (p.Leu743Ile) c.2428C>A (p.Leu810Ile) c.2464C>A (p.Leu822Ile) c.2440C>A (p.Leu814Ile) | |
13 | g.108208842A= | CA2117793943 | LIG4 | c.2226T= (p.Pro742=) c.2427T= (p.Pro809=) c.2463T= (p.Pro821=) c.2439T= (p.Pro813=) | |
13 | g.108208842A>C | CA484975204 | LIG4 | c.2226T>G (p.Pro742=) c.2427T>G (p.Pro809=) c.2463T>G (p.Pro821=) c.2439T>G (p.Pro813=) | |
13 | g.108208842A>G | CA484975205 | LIG4 | c.2226T>C (p.Pro742=) c.2427T>C (p.Pro809=) c.2463T>C (p.Pro821=) c.2439T>C (p.Pro813=) | dbSNP gnomAD v2 |
13 | g.108208842A>T | CA484975207 | LIG4 | c.2226T>A (p.Pro742=) c.2427T>A (p.Pro809=) c.2463T>A (p.Pro821=) c.2439T>A (p.Pro813=) | ClinVar |
13 | g.108208842dup | CA2739277735 | LIG4 | c.2226dup (p.Leu743SerfsTer18) c.2427dup (p.Leu810SerfsTer18) c.2463dup (p.Leu822SerfsTer18) c.2439dup (p.Leu814SerfsTer18) | ClinVar |
13 | g.108208843G>A | CA388613188 | LIG4 | c.2225C>T (p.Pro742Leu) c.2426C>T (p.Pro809Leu) c.2462C>T (p.Pro821Leu) c.2438C>T (p.Pro813Leu) | ClinVar gnomAD v4 |
13 | g.108208843G>C | CA388613190 | LIG4 | c.2225C>G (p.Pro742Arg) c.2426C>G (p.Pro809Arg) c.2462C>G (p.Pro821Arg) c.2438C>G (p.Pro813Arg) | |
13 | g.108208843G>T | CA388613189 | LIG4 | c.2225C>A (p.Pro742His) c.2426C>A (p.Pro809His) c.2462C>A (p.Pro821His) c.2438C>A (p.Pro813His) | |
13 | g.108208844G>A | CA388613192 | LIG4 | c.2224C>T (p.Pro742Ser) c.2425C>T (p.Pro809Ser) c.2461C>T (p.Pro821Ser) c.2437C>T (p.Pro813Ser) | |
13 | g.108208844G>C | CA7043505 | LIG4 | c.2224C>G (p.Pro742Ala) c.2425C>G (p.Pro809Ala) c.2461C>G (p.Pro821Ala) c.2437C>G (p.Pro813Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208844G= | CA2117793944 | LIG4 | c.2224C= (p.Pro742=) c.2425C= (p.Pro809=) c.2461C= (p.Pro821=) c.2437C= (p.Pro813=) | |
13 | g.108208844G>T | CA388613193 | LIG4 | c.2224C>A (p.Pro742Thr) c.2425C>A (p.Pro809Thr) c.2461C>A (p.Pro821Thr) c.2437C>A (p.Pro813Thr) | |
13 | g.108208845A= | CA2117793945 | LIG4 | c.2223T= (p.Ser741=) c.2424T= (p.Ser808=) c.2460T= (p.Ser820=) c.2436T= (p.Ser812=) | |
13 | g.108208845A>C | CA484975211 | LIG4 | c.2223T>G (p.Ser741=) c.2424T>G (p.Ser808=) c.2460T>G (p.Ser820=) c.2436T>G (p.Ser812=) | |
13 | g.108208845A>G | CA7043506 | LIG4 | c.2223T>C (p.Ser741=) c.2424T>C (p.Ser808=) c.2460T>C (p.Ser820=) c.2436T>C (p.Ser812=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208845A>T | CA484975214 | LIG4 | c.2223T>A (p.Ser741=) c.2424T>A (p.Ser808=) c.2460T>A (p.Ser820=) c.2436T>A (p.Ser812=) | |
13 | g.108208846G>A | CA388613196 | LIG4 | c.2222C>T (p.Ser741Phe) c.2423C>T (p.Ser808Phe) c.2459C>T (p.Ser820Phe) c.2435C>T (p.Ser812Phe) | |
13 | g.108208846G>C | CA7043507 | LIG4 | c.2222C>G (p.Ser741Cys) c.2423C>G (p.Ser808Cys) c.2459C>G (p.Ser820Cys) c.2435C>G (p.Ser812Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208846G= | CA2117793946 | LIG4 | c.2222C= (p.Ser741=) c.2423C= (p.Ser808=) c.2459C= (p.Ser820=) c.2435C= (p.Ser812=) | |
13 | g.108208846G>T | CA388613198 | LIG4 | c.2222C>A (p.Ser741Tyr) c.2423C>A (p.Ser808Tyr) c.2459C>A (p.Ser820Tyr) c.2435C>A (p.Ser812Tyr) | |
13 | g.108208847A= | CA2117793947 | LIG4 | c.2221T= (p.Ser741=) c.2422T= (p.Ser808=) c.2458T= (p.Ser820=) c.2434T= (p.Ser812=) | |
13 | g.108208847A>C | CA388613199 | LIG4 | c.2221T>G (p.Ser741Ala) c.2422T>G (p.Ser808Ala) c.2458T>G (p.Ser820Ala) c.2434T>G (p.Ser812Ala) | |
13 | g.108208847A>G | CA388613200 | LIG4 | c.2221T>C (p.Ser741Pro) c.2422T>C (p.Ser808Pro) c.2458T>C (p.Ser820Pro) c.2434T>C (p.Ser812Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208847A>T | CA388613202 | LIG4 | c.2221T>A (p.Ser741Thr) c.2422T>A (p.Ser808Thr) c.2458T>A (p.Ser820Thr) c.2434T>A (p.Ser812Thr) | |
13 | g.108208848G>A | CA7043508 | LIG4 | c.2220C>T (p.Cys740=) c.2421C>T (p.Cys807=) c.2457C>T (p.Cys819=) c.2433C>T (p.Cys811=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208848G>C | CA388613205 | LIG4 | c.2220C>G (p.Cys740Trp) c.2421C>G (p.Cys807Trp) c.2457C>G (p.Cys819Trp) c.2433C>G (p.Cys811Trp) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208848G= | CA2117793948 | LIG4 | c.2220C= (p.Cys740=) c.2421C= (p.Cys807=) c.2457C= (p.Cys819=) c.2433C= (p.Cys811=) | |
13 | g.108208848G>T | CA388613204 | LIG4 | c.2220C>A (p.Cys740Ter) c.2421C>A (p.Cys807Ter) c.2457C>A (p.Cys819Ter) c.2433C>A (p.Cys811Ter) | |
13 | g.108208849C>A | CA388613206 | LIG4 | c.2219G>T (p.Cys740Phe) c.2420G>T (p.Cys807Phe) c.2456G>T (p.Cys819Phe) c.2432G>T (p.Cys811Phe) | |
13 | g.108208849C>G | CA388613208 | LIG4 | c.2219G>C (p.Cys740Ser) c.2420G>C (p.Cys807Ser) c.2456G>C (p.Cys819Ser) c.2432G>C (p.Cys811Ser) | |
13 | g.108208849C>T | CA388613210 | LIG4 | c.2219G>A (p.Cys740Tyr) c.2420G>A (p.Cys807Tyr) c.2456G>A (p.Cys819Tyr) c.2432G>A (p.Cys811Tyr) | |
13 | g.108208850A>C | CA388613211 | LIG4 | c.2218T>G (p.Cys740Gly) c.2419T>G (p.Cys807Gly) c.2455T>G (p.Cys819Gly) c.2431T>G (p.Cys811Gly) | gnomAD v4 |
13 | g.108208850A>G | CA388613213 | LIG4 | c.2218T>C (p.Cys740Arg) c.2419T>C (p.Cys807Arg) c.2455T>C (p.Cys819Arg) c.2431T>C (p.Cys811Arg) | |
13 | g.108208850A>T | CA388613214 | LIG4 | c.2218T>A (p.Cys740Ser) c.2419T>A (p.Cys807Ser) c.2455T>A (p.Cys819Ser) c.2431T>A (p.Cys811Ser) | |
13 | g.108208851A>C | CA388613216 | LIG4 | c.2217T>G (p.Asp739Glu) c.2418T>G (p.Asp806Glu) c.2454T>G (p.Asp818Glu) c.2430T>G (p.Asp810Glu) | |
13 | g.108208851A>G | CA484975226 | LIG4 | c.2217T>C (p.Asp739=) c.2418T>C (p.Asp806=) c.2454T>C (p.Asp818=) c.2430T>C (p.Asp810=) | gnomAD v4 |
13 | g.108208851A>T | CA388613218 | LIG4 | c.2217T>A (p.Asp739Glu) c.2418T>A (p.Asp806Glu) c.2454T>A (p.Asp818Glu) c.2430T>A (p.Asp810Glu) | |
13 | g.108208852T>A | CA388613220 | LIG4 | c.2216A>T (p.Asp739Val) c.2417A>T (p.Asp806Val) c.2453A>T (p.Asp818Val) c.2429A>T (p.Asp810Val) | dbSNP |
13 | g.108208852T>C | CA7043509 | LIG4 | c.2216A>G (p.Asp739Gly) c.2417A>G (p.Asp806Gly) c.2453A>G (p.Asp818Gly) c.2429A>G (p.Asp810Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208852T>G | CA388613222 | LIG4 | c.2216A>C (p.Asp739Ala) c.2417A>C (p.Asp806Ala) c.2453A>C (p.Asp818Ala) c.2429A>C (p.Asp810Ala) | |
13 | g.108208852T= | CA2117793949 | LIG4 | c.2216A= (p.Asp739=) c.2417A= (p.Asp806=) c.2453A= (p.Asp818=) c.2429A= (p.Asp810=) |