| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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=) | |
| 13 | g.108208853C>A | CA388613227 | LIG4 | c.2215G>T (p.Asp739Tyr) c.2416G>T (p.Asp806Tyr) c.2452G>T (p.Asp818Tyr) c.2428G>T (p.Asp810Tyr) | |
| 13 | g.108208853C>G | CA388613226 | LIG4 | c.2215G>C (p.Asp739His) c.2416G>C (p.Asp806His) c.2452G>C (p.Asp818His) c.2428G>C (p.Asp810His) | |
| 13 | g.108208853C>T | CA388613224 | LIG4 | c.2215G>A (p.Asp739Asn) c.2416G>A (p.Asp806Asn) c.2452G>A (p.Asp818Asn) c.2428G>A (p.Asp810Asn) | |
| 13 | g.108208854C>A | CA388613229 | LIG4 | c.2214G>T (p.Trp738Cys) c.2415G>T (p.Trp805Cys) c.2451G>T (p.Trp817Cys) c.2427G>T (p.Trp809Cys) | |
| 13 | g.108208854C>G | CA388613231 | LIG4 | c.2214G>C (p.Trp738Cys) c.2415G>C (p.Trp805Cys) c.2451G>C (p.Trp817Cys) c.2427G>C (p.Trp809Cys) | |
| 13 | g.108208854C>T | CA388613232 | LIG4 | c.2214G>A (p.Trp738Ter) c.2415G>A (p.Trp805Ter) c.2451G>A (p.Trp817Ter) c.2427G>A (p.Trp809Ter) | |
| 13 | g.108208855C>A | CA388613234 | LIG4 | c.2213G>T (p.Trp738Leu) c.2414G>T (p.Trp805Leu) c.2450G>T (p.Trp817Leu) c.2426G>T (p.Trp809Leu) | |
| 13 | g.108208855C>G | CA388613235 | LIG4 | c.2213G>C (p.Trp738Ser) c.2414G>C (p.Trp805Ser) c.2450G>C (p.Trp817Ser) c.2426G>C (p.Trp809Ser) | |
| 13 | g.108208855C>T | CA388613237 | LIG4 | c.2213G>A (p.Trp738Ter) c.2414G>A (p.Trp805Ter) c.2450G>A (p.Trp817Ter) c.2426G>A (p.Trp809Ter) | |
| 13 | g.108208856A>C | CA388613239 | LIG4 | c.2212T>G (p.Trp738Gly) c.2413T>G (p.Trp805Gly) c.2449T>G (p.Trp817Gly) c.2425T>G (p.Trp809Gly) | |
| 13 | g.108208856A>G | CA388613240 | LIG4 | c.2212T>C (p.Trp738Arg) c.2413T>C (p.Trp805Arg) c.2449T>C (p.Trp817Arg) c.2425T>C (p.Trp809Arg) | |
| 13 | g.108208856A>T | CA388613242 | LIG4 | c.2212T>A (p.Trp738Arg) c.2413T>A (p.Trp805Arg) c.2449T>A (p.Trp817Arg) c.2425T>A (p.Trp809Arg) | |
| 13 | g.108208857G>A | CA484975233 | LIG4 | c.2211C>T (p.Ser737=) c.2412C>T (p.Ser804=) c.2448C>T (p.Ser816=) c.2424C>T (p.Ser808=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.108208857G>C | CA484975235 | LIG4 | c.2211C>G (p.Ser737=) c.2412C>G (p.Ser804=) c.2448C>G (p.Ser816=) c.2424C>G (p.Ser808=) | |
| 13 | g.108208857G= | CA2117793950 | LIG4 | c.2211C= (p.Ser737=) c.2412C= (p.Ser804=) c.2448C= (p.Ser816=) c.2424C= (p.Ser808=) | |
| 13 | g.108208857G>T | CA484975237 | LIG4 | c.2211C>A (p.Ser737=) c.2412C>A (p.Ser804=) c.2448C>A (p.Ser816=) c.2424C>A (p.Ser808=) | |
| 13 | g.108208858G>A | CA388613244 | LIG4 | c.2210C>T (p.Ser737Phe) c.2411C>T (p.Ser804Phe) c.2447C>T (p.Ser816Phe) c.2423C>T (p.Ser808Phe) | gnomAD v4 |
| 13 | g.108208858G>C | CA388613245 | LIG4 | c.2210C>G (p.Ser737Cys) c.2411C>G (p.Ser804Cys) c.2447C>G (p.Ser816Cys) c.2423C>G (p.Ser808Cys) | gnomAD v4 |
| 13 | g.108208858G>T | CA388613247 | LIG4 | c.2210C>A (p.Ser737Tyr) c.2411C>A (p.Ser804Tyr) c.2447C>A (p.Ser816Tyr) c.2423C>A (p.Ser808Tyr) | |
| 13 | g.108208859A>C | CA388613252 | LIG4 | c.2209T>G (p.Ser737Ala) c.2410T>G (p.Ser804Ala) c.2446T>G (p.Ser816Ala) c.2422T>G (p.Ser808Ala) | COSMIC |
| 13 | g.108208859A>G | CA388613250 | LIG4 | c.2209T>C (p.Ser737Pro) c.2410T>C (p.Ser804Pro) c.2446T>C (p.Ser816Pro) c.2422T>C (p.Ser808Pro) | |
| 13 | g.108208859A>T | CA388613248 | LIG4 | c.2209T>A (p.Ser737Thr) c.2410T>A (p.Ser804Thr) c.2446T>A (p.Ser816Thr) c.2422T>A (p.Ser808Thr) | |
| 13 | g.108208859_108208868del | CA2499221942 | LIG4 | c.2200_2209del (p.Tyr734ProfsTer26) c.2401_2410del (p.Tyr801ProfsTer26) c.2437_2446del (p.Tyr813ProfsTer26) c.2413_2422del (p.Tyr805ProfsTer26) | ClinVar dbSNP |
| 13 | g.108208860A>C | CA388613254 | LIG4 | c.2208T>G (p.Tyr736Ter) c.2409T>G (p.Tyr803Ter) c.2445T>G (p.Tyr815Ter) c.2421T>G (p.Tyr807Ter) | |
| 13 | g.108208860A>G | CA484975243 | LIG4 | c.2208T>C (p.Tyr736=) c.2409T>C (p.Tyr803=) c.2445T>C (p.Tyr815=) c.2421T>C (p.Tyr807=) | ClinVar |
| 13 | g.108208860A>T | CA388613255 | LIG4 | c.2208T>A (p.Tyr736Ter) c.2409T>A (p.Tyr803Ter) c.2445T>A (p.Tyr815Ter) c.2421T>A (p.Tyr807Ter) | |
| 13 | g.108208861T>A | CA388613256 | LIG4 | c.2207A>T (p.Tyr736Phe) c.2408A>T (p.Tyr803Phe) c.2444A>T (p.Tyr815Phe) c.2420A>T (p.Tyr807Phe) | |
| 13 | g.108208861T>C | CA388613257 | LIG4 | c.2207A>G (p.Tyr736Cys) c.2408A>G (p.Tyr803Cys) c.2444A>G (p.Tyr815Cys) c.2420A>G (p.Tyr807Cys) | gnomAD v4 |
| 13 | g.108208861T>G | CA388613258 | LIG4 | c.2207A>C (p.Tyr736Ser) c.2408A>C (p.Tyr803Ser) c.2444A>C (p.Tyr815Ser) c.2420A>C (p.Tyr807Ser) | |
| 13 | g.108208862A= | CA2117793951 | LIG4 | c.2206T= (p.Tyr736=) c.2407T= (p.Tyr803=) c.2443T= (p.Tyr815=) c.2419T= (p.Tyr807=) | |
| 13 | g.108208862A>C | CA388613260 | LIG4 | c.2206T>G (p.Tyr736Asp) c.2407T>G (p.Tyr803Asp) c.2443T>G (p.Tyr815Asp) c.2419T>G (p.Tyr807Asp) | dbSNP gnomAD v4 |
| 13 | g.108208862A>G | CA388613262 | LIG4 | c.2206T>C (p.Tyr736His) c.2407T>C (p.Tyr803His) c.2443T>C (p.Tyr815His) c.2419T>C (p.Tyr807His) | gnomAD v4 |