Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108208829G>A | CA118975 | LIG4 | c.2239C>T (p.Arg747Ter) c.2440C>T (p.Arg814Ter) c.2476C>T (p.Arg826Ter) c.2452C>T (p.Arg818Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208829G>C | CA388613139 | LIG4 | c.2239C>G (p.Arg747Gly) c.2440C>G (p.Arg814Gly) c.2476C>G (p.Arg826Gly) c.2452C>G (p.Arg818Gly) | gnomAD v4 |
13 | g.108208829G= | CA2117793934 | LIG4 | c.2239C= (p.Arg747=) c.2440C= (p.Arg814=) c.2476C= (p.Arg826=) c.2452C= (p.Arg818=) | |
13 | g.108208829G>T | CA484975078 | LIG4 | c.2239C>A (p.Arg747=) c.2440C>A (p.Arg814=) c.2476C>A (p.Arg826=) c.2452C>A (p.Arg818=) | gnomAD v4 |
13 | g.108208830A>C | CA388613141 | LIG4 | c.2238T>G (p.Phe746Leu) c.2439T>G (p.Phe813Leu) c.2475T>G (p.Phe825Leu) c.2451T>G (p.Phe817Leu) | |
13 | g.108208830A>G | CA484975083 | LIG4 | c.2238T>C (p.Phe746=) c.2439T>C (p.Phe813=) c.2475T>C (p.Phe825=) c.2451T>C (p.Phe817=) | |
13 | g.108208830A>T | CA388613143 | LIG4 | c.2238T>A (p.Phe746Leu) c.2439T>A (p.Phe813Leu) c.2475T>A (p.Phe825Leu) c.2451T>A (p.Phe817Leu) | |
13 | g.108208831A>C | CA388613144 | LIG4 | c.2237T>G (p.Phe746Cys) c.2438T>G (p.Phe813Cys) c.2474T>G (p.Phe825Cys) c.2450T>G (p.Phe817Cys) | |
13 | g.108208831A>G | CA388613146 | LIG4 | c.2237T>C (p.Phe746Ser) c.2438T>C (p.Phe813Ser) c.2474T>C (p.Phe825Ser) c.2450T>C (p.Phe817Ser) | |
13 | g.108208831A>T | CA388613148 | LIG4 | c.2237T>A (p.Phe746Tyr) c.2438T>A (p.Phe813Tyr) c.2474T>A (p.Phe825Tyr) c.2450T>A (p.Phe817Tyr) | |
13 | g.108208832A= | CA2117793935 | LIG4 | c.2236T= (p.Phe746=) c.2437T= (p.Phe813=) c.2473T= (p.Phe825=) c.2449T= (p.Phe817=) | |
13 | g.108208832A>C | CA388613150 | LIG4 | c.2236T>G (p.Phe746Val) c.2437T>G (p.Phe813Val) c.2473T>G (p.Phe825Val) c.2449T>G (p.Phe817Val) | |
13 | g.108208832A>G | CA388613151 | LIG4 | c.2236T>C (p.Phe746Leu) c.2437T>C (p.Phe813Leu) c.2473T>C (p.Phe825Leu) c.2449T>C (p.Phe817Leu) | dbSNP |
13 | g.108208832A>T | CA388613153 | LIG4 | c.2236T>A (p.Phe746Ile) c.2437T>A (p.Phe813Ile) c.2473T>A (p.Phe825Ile) c.2449T>A (p.Phe817Ile) | |
13 | g.108208833C>A | CA388613154 | LIG4 | c.2235G>T (p.Met745Ile) c.2436G>T (p.Met812Ile) c.2472G>T (p.Met824Ile) c.2448G>T (p.Met816Ile) | |
13 | g.108208833C= | CA2117793936 | LIG4 | c.2235G= (p.Met745=) c.2436G= (p.Met812=) c.2472G= (p.Met824=) c.2448G= (p.Met816=) | |
13 | g.108208833C>G | CA388613156 | LIG4 | c.2235G>C (p.Met745Ile) c.2436G>C (p.Met812Ile) c.2472G>C (p.Met824Ile) c.2448G>C (p.Met816Ile) | |
13 | g.108208833C>T | CA7043500 | LIG4 | c.2235G>A (p.Met745Ile) c.2436G>A (p.Met812Ile) c.2472G>A (p.Met824Ile) c.2448G>A (p.Met816Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208834A= | CA2117793937 | LIG4 | c.2234T= (p.Met745=) c.2435T= (p.Met812=) c.2471T= (p.Met824=) c.2447T= (p.Met816=) | |
13 | g.108208834A>C | CA7043501 | LIG4 | c.2234T>G (p.Met745Arg) c.2435T>G (p.Met812Arg) c.2471T>G (p.Met824Arg) c.2447T>G (p.Met816Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208834A>G | CA388613160 | LIG4 | c.2234T>C (p.Met745Thr) c.2435T>C (p.Met812Thr) c.2471T>C (p.Met824Thr) c.2447T>C (p.Met816Thr) | gnomAD v4 |
13 | g.108208834A>T | CA388613159 | LIG4 | c.2234T>A (p.Met745Lys) c.2435T>A (p.Met812Lys) c.2471T>A (p.Met824Lys) c.2447T>A (p.Met816Lys) | |
13 | g.108208835T>A | CA388613161 | LIG4 | c.2233A>T (p.Met745Leu) c.2434A>T (p.Met812Leu) c.2470A>T (p.Met824Leu) c.2446A>T (p.Met816Leu) | |
13 | g.108208835T>C | CA7043502 | LIG4 | c.2233A>G (p.Met745Val) c.2434A>G (p.Met812Val) c.2470A>G (p.Met824Val) c.2446A>G (p.Met816Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208835T>G | CA388613163 | LIG4 | c.2233A>C (p.Met745Leu) c.2434A>C (p.Met812Leu) c.2470A>C (p.Met824Leu) c.2446A>C (p.Met816Leu) | |
13 | g.108208835T= | CA2117793938 | LIG4 | c.2233A= (p.Met745=) c.2434A= (p.Met812=) c.2470A= (p.Met824=) c.2446A= (p.Met816=) | |
13 | g.108208836A>C | CA388613165 | LIG4 | c.2232T>G (p.Ser744Arg) c.2433T>G (p.Ser811Arg) c.2469T>G (p.Ser823Arg) c.2445T>G (p.Ser815Arg) | |
13 | g.108208836A>G | CA484975192 | LIG4 | c.2232T>C (p.Ser744=) c.2433T>C (p.Ser811=) c.2469T>C (p.Ser823=) c.2445T>C (p.Ser815=) | gnomAD v4 |
13 | g.108208836A>T | CA388613166 | LIG4 | c.2232T>A (p.Ser744Arg) c.2433T>A (p.Ser811Arg) c.2469T>A (p.Ser823Arg) c.2445T>A (p.Ser815Arg) | |
13 | g.108208837C>A | CA388613168 | LIG4 | c.2231G>T (p.Ser744Ile) c.2432G>T (p.Ser811Ile) c.2468G>T (p.Ser823Ile) c.2444G>T (p.Ser815Ile) | |
13 | g.108208837C>G | CA388613170 | LIG4 | c.2231G>C (p.Ser744Thr) c.2432G>C (p.Ser811Thr) c.2468G>C (p.Ser823Thr) c.2444G>C (p.Ser815Thr) | |
13 | g.108208837C>T | CA388613172 | LIG4 | c.2231G>A (p.Ser744Asn) c.2432G>A (p.Ser811Asn) c.2468G>A (p.Ser823Asn) c.2444G>A (p.Ser815Asn) | |
13 | g.108208838T>A | CA388613173 | LIG4 | c.2230A>T (p.Ser744Cys) c.2431A>T (p.Ser811Cys) c.2467A>T (p.Ser823Cys) c.2443A>T (p.Ser815Cys) | |
13 | g.108208838T>C | CA388613175 | LIG4 | c.2230A>G (p.Ser744Gly) c.2431A>G (p.Ser811Gly) c.2467A>G (p.Ser823Gly) c.2443A>G (p.Ser815Gly) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208838T>G | CA388613176 | LIG4 | c.2230A>C (p.Ser744Arg) c.2431A>C (p.Ser811Arg) c.2467A>C (p.Ser823Arg) c.2443A>C (p.Ser815Arg) | |
13 | g.108208838T= | CA2117793939 | LIG4 | c.2230A= (p.Ser744=) c.2431A= (p.Ser811=) c.2467A= (p.Ser823=) c.2443A= (p.Ser815=) | |
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.108208839G>A | CA7043503 | LIG4 | c.2229C>T (p.Leu743=) c.2430C>T (p.Leu810=) c.2466C>T (p.Leu822=) c.2442C>T (p.Leu814=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208839G>C | CA484975199 | LIG4 | c.2229C>G (p.Leu743=) c.2430C>G (p.Leu810=) c.2466C>G (p.Leu822=) c.2442C>G (p.Leu814=) | dbSNP |
13 | g.108208839G= | CA2117793941 | LIG4 | c.2229C= (p.Leu743=) c.2430C= (p.Leu810=) c.2466C= (p.Leu822=) c.2442C= (p.Leu814=) | |
13 | g.108208839G>T | CA484975197 | LIG4 | c.2229C>A (p.Leu743=) c.2430C>A (p.Leu810=) c.2466C>A (p.Leu822=) c.2442C>A (p.Leu814=) | |
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) | 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=) |