Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.108208863C>A | CA484975245 | LIG4 | c.2205G>T (p.Arg735=) c.2406G>T (p.Arg802=) c.2442G>T (p.Arg814=) c.2418G>T (p.Arg806=) | gnomAD v4 |
13 | g.108208863C>G | CA484975247 | LIG4 | c.2205G>C (p.Arg735=) c.2406G>C (p.Arg802=) c.2442G>C (p.Arg814=) c.2418G>C (p.Arg806=) | |
13 | g.108208863C>T | CA484975248 | LIG4 | c.2205G>A (p.Arg735=) c.2406G>A (p.Arg802=) c.2442G>A (p.Arg814=) c.2418G>A (p.Arg806=) | |
13 | g.108208864C>A | CA388613265 | LIG4 | c.2204G>T (p.Arg735Leu) c.2405G>T (p.Arg802Leu) c.2441G>T (p.Arg814Leu) c.2417G>T (p.Arg806Leu) | |
13 | g.108208864C= | CA2117793952 | LIG4 | c.2204G= (p.Arg735=) c.2405G= (p.Arg802=) c.2441G= (p.Arg814=) c.2417G= (p.Arg806=) | |
13 | g.108208864C>G | CA388613267 | LIG4 | c.2204G>C (p.Arg735Pro) c.2405G>C (p.Arg802Pro) c.2441G>C (p.Arg814Pro) c.2417G>C (p.Arg806Pro) | |
13 | g.108208864C>T | CA7043510 | LIG4 | c.2204G>A (p.Arg735Gln) c.2405G>A (p.Arg802Gln) c.2441G>A (p.Arg814Gln) c.2417G>A (p.Arg806Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208865G>A | CA7043511 | LIG4 | c.2203C>T (p.Arg735Trp) c.2404C>T (p.Arg802Trp) c.2440C>T (p.Arg814Trp) c.2416C>T (p.Arg806Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208865G>C | CA388613269 | LIG4 | c.2203C>G (p.Arg735Gly) c.2404C>G (p.Arg802Gly) c.2440C>G (p.Arg814Gly) c.2416C>G (p.Arg806Gly) | |
13 | g.108208865G= | CA2117793953 | LIG4 | c.2203C= (p.Arg735=) c.2404C= (p.Arg802=) c.2440C= (p.Arg814=) c.2416C= (p.Arg806=) | |
13 | g.108208865G>T | CA484975250 | LIG4 | c.2203C>A (p.Arg735=) c.2404C>A (p.Arg802=) c.2440C>A (p.Arg814=) c.2416C>A (p.Arg806=) | gnomAD v4 |
13 | g.108208866A>C | CA388613271 | LIG4 | c.2202T>G (p.Tyr734Ter) c.2403T>G (p.Tyr801Ter) c.2439T>G (p.Tyr813Ter) c.2415T>G (p.Tyr805Ter) | |
13 | g.108208866A>G | CA484975252 | LIG4 | c.2202T>C (p.Tyr734=) c.2403T>C (p.Tyr801=) c.2439T>C (p.Tyr813=) c.2415T>C (p.Tyr805=) | |
13 | g.108208866A>T | CA388613273 | LIG4 | c.2202T>A (p.Tyr734Ter) c.2403T>A (p.Tyr801Ter) c.2439T>A (p.Tyr813Ter) c.2415T>A (p.Tyr805Ter) | |
13 | g.108208867T>A | CA388613274 | LIG4 | c.2201A>T (p.Tyr734Phe) c.2402A>T (p.Tyr801Phe) c.2438A>T (p.Tyr813Phe) c.2414A>T (p.Tyr805Phe) | |
13 | g.108208867T>C | CA388613277 | LIG4 | c.2201A>G (p.Tyr734Cys) c.2402A>G (p.Tyr801Cys) c.2438A>G (p.Tyr813Cys) c.2414A>G (p.Tyr805Cys) | |
13 | g.108208867T>G | CA388613276 | LIG4 | c.2201A>C (p.Tyr734Ser) c.2402A>C (p.Tyr801Ser) c.2438A>C (p.Tyr813Ser) c.2414A>C (p.Tyr805Ser) | |
13 | g.108208868A= | CA2117793954 | LIG4 | c.2200T= (p.Tyr734=) c.2401T= (p.Tyr801=) c.2437T= (p.Tyr813=) c.2413T= (p.Tyr805=) | |
13 | g.108208868A>C | CA7043512 | LIG4 | c.2200T>G (p.Tyr734Asp) c.2401T>G (p.Tyr801Asp) c.2437T>G (p.Tyr813Asp) c.2413T>G (p.Tyr805Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208868A>G | CA388613280 | LIG4 | c.2200T>C (p.Tyr734His) c.2401T>C (p.Tyr801His) c.2437T>C (p.Tyr813His) c.2413T>C (p.Tyr805His) | |
13 | g.108208868A>T | CA388613281 | LIG4 | c.2200T>A (p.Tyr734Asn) c.2401T>A (p.Tyr801Asn) c.2437T>A (p.Tyr813Asn) c.2413T>A (p.Tyr805Asn) | |
13 | g.108208869T>A | CA388613283 | LIG4 | c.2199A>T (p.Glu733Asp) c.2400A>T (p.Glu800Asp) c.2436A>T (p.Glu812Asp) c.2412A>T (p.Glu804Asp) | |
13 | g.108208869T>C | CA484975259 | LIG4 | c.2199A>G (p.Glu733=) c.2400A>G (p.Glu800=) c.2436A>G (p.Glu812=) c.2412A>G (p.Glu804=) | gnomAD v4 |
13 | g.108208869T>G | CA388613285 | LIG4 | c.2199A>C (p.Glu733Asp) c.2400A>C (p.Glu800Asp) c.2436A>C (p.Glu812Asp) c.2412A>C (p.Glu804Asp) | |
13 | g.108208870T>A | CA388613287 | LIG4 | c.2198A>T (p.Glu733Val) c.2399A>T (p.Glu800Val) c.2435A>T (p.Glu812Val) c.2411A>T (p.Glu804Val) | |
13 | g.108208870T>C | CA7043513 | LIG4 | c.2198A>G (p.Glu733Gly) c.2399A>G (p.Glu800Gly) c.2435A>G (p.Glu812Gly) c.2411A>G (p.Glu804Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208870T>G | CA388613289 | LIG4 | c.2198A>C (p.Glu733Ala) c.2399A>C (p.Glu800Ala) c.2435A>C (p.Glu812Ala) c.2411A>C (p.Glu804Ala) | |
13 | g.108208870T= | CA2117793955 | LIG4 | c.2198A= (p.Glu733=) c.2399A= (p.Glu800=) c.2435A= (p.Glu812=) c.2411A= (p.Glu804=) | |
13 | g.108208871C>A | CA388613290 | LIG4 | c.2197G>T (p.Glu733Ter) c.2398G>T (p.Glu800Ter) c.2434G>T (p.Glu812Ter) c.2410G>T (p.Glu804Ter) | |
13 | g.108208871C>G | CA388613292 | LIG4 | c.2197G>C (p.Glu733Gln) c.2398G>C (p.Glu800Gln) c.2434G>C (p.Glu812Gln) c.2410G>C (p.Glu804Gln) | |
13 | g.108208871C>T | CA388613293 | LIG4 | c.2197G>A (p.Glu733Lys) c.2398G>A (p.Glu800Lys) c.2434G>A (p.Glu812Lys) c.2410G>A (p.Glu804Lys) | |
13 | g.108208872T>A | CA388613296 | LIG4 | c.2196A>T (p.Leu732Phe) c.2397A>T (p.Leu799Phe) c.2433A>T (p.Leu811Phe) c.2409A>T (p.Leu803Phe) | |
13 | g.108208872T>C | CA484975263 | LIG4 | c.2196A>G (p.Leu732=) c.2397A>G (p.Leu799=) c.2433A>G (p.Leu811=) c.2409A>G (p.Leu803=) | |
13 | g.108208872T>G | CA388613295 | LIG4 | c.2196A>C (p.Leu732Phe) c.2397A>C (p.Leu799Phe) c.2433A>C (p.Leu811Phe) c.2409A>C (p.Leu803Phe) | |
13 | g.108208873A>C | CA388613298 | LIG4 | c.2195T>G (p.Leu732Ter) c.2396T>G (p.Leu799Ter) c.2432T>G (p.Leu811Ter) c.2408T>G (p.Leu803Ter) | |
13 | g.108208873A>G | CA388613299 | LIG4 | c.2195T>C (p.Leu732Ser) c.2396T>C (p.Leu799Ser) c.2432T>C (p.Leu811Ser) c.2408T>C (p.Leu803Ser) | |
13 | g.108208873A>T | CA388613301 | LIG4 | c.2195T>A (p.Leu732Ter) c.2396T>A (p.Leu799Ter) c.2432T>A (p.Leu811Ter) c.2408T>A (p.Leu803Ter) | |
13 | g.108208874A>C | CA388613303 | LIG4 | c.2194T>G (p.Leu732Val) c.2395T>G (p.Leu799Val) c.2431T>G (p.Leu811Val) c.2407T>G (p.Leu803Val) | gnomAD v4 |
13 | g.108208874A>G | CA484975267 | LIG4 | c.2194T>C (p.Leu732=) c.2395T>C (p.Leu799=) c.2431T>C (p.Leu811=) c.2407T>C (p.Leu803=) | |
13 | g.108208874A>T | CA388613304 | LIG4 | c.2194T>A (p.Leu732Ile) c.2395T>A (p.Leu799Ile) c.2431T>A (p.Leu811Ile) c.2407T>A (p.Leu803Ile) | |
13 | g.108208875A>C | CA388613306 | LIG4 | c.2193T>G (p.Asp731Glu) c.2394T>G (p.Asp798Glu) c.2430T>G (p.Asp810Glu) c.2406T>G (p.Asp802Glu) | |
13 | g.108208875A>G | CA484975270 | LIG4 | c.2193T>C (p.Asp731=) c.2394T>C (p.Asp798=) c.2430T>C (p.Asp810=) c.2406T>C (p.Asp802=) | |
13 | g.108208875A>T | CA388613308 | LIG4 | c.2193T>A (p.Asp731Glu) c.2394T>A (p.Asp798Glu) c.2430T>A (p.Asp810Glu) c.2406T>A (p.Asp802Glu) | |
13 | g.108208876T>A | CA388613309 | LIG4 | c.2192A>T (p.Asp731Val) c.2393A>T (p.Asp798Val) c.2429A>T (p.Asp810Val) c.2405A>T (p.Asp802Val) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208876T>C | CA388613310 | LIG4 | c.2192A>G (p.Asp731Gly) c.2393A>G (p.Asp798Gly) c.2429A>G (p.Asp810Gly) c.2405A>G (p.Asp802Gly) | |
13 | g.108208876T>G | CA7043514 | LIG4 | c.2192A>C (p.Asp731Ala) c.2393A>C (p.Asp798Ala) c.2429A>C (p.Asp810Ala) c.2405A>C (p.Asp802Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208876T= | CA2117793956 | LIG4 | c.2192A= (p.Asp731=) c.2393A= (p.Asp798=) c.2429A= (p.Asp810=) c.2405A= (p.Asp802=) | |
13 | g.108208877C>A | CA388613312 | LIG4 | c.2191G>T (p.Asp731Tyr) c.2392G>T (p.Asp798Tyr) c.2428G>T (p.Asp810Tyr) c.2404G>T (p.Asp802Tyr) | dbSNP gnomAD v4 |
13 | g.108208877C= | CA2117793957 | LIG4 | c.2191G= (p.Asp731=) c.2392G= (p.Asp798=) c.2428G= (p.Asp810=) c.2404G= (p.Asp802=) | |
13 | g.108208877C>G | CA388613313 | LIG4 | c.2191G>C (p.Asp731His) c.2392G>C (p.Asp798His) c.2428G>C (p.Asp810His) c.2404G>C (p.Asp802His) | |
13 | g.108208877C>T | CA388613315 | LIG4 | c.2191G>A (p.Asp731Asn) c.2392G>A (p.Asp798Asn) c.2428G>A (p.Asp810Asn) c.2404G>A (p.Asp802Asn) | |
13 | g.108208878A>C | CA484975273 | LIG4 | c.2190T>G (p.Ala730=) c.2391T>G (p.Ala797=) c.2427T>G (p.Ala809=) c.2403T>G (p.Ala801=) | |
13 | g.108208878A>G | CA484975274 | LIG4 | c.2190T>C (p.Ala730=) c.2391T>C (p.Ala797=) c.2427T>C (p.Ala809=) c.2403T>C (p.Ala801=) | |
13 | g.108208878A>T | CA484975275 | LIG4 | c.2190T>A (p.Ala730=) c.2391T>A (p.Ala797=) c.2427T>A (p.Ala809=) c.2403T>A (p.Ala801=) | |
13 | g.108208879G>A | CA7043515 | LIG4 | c.2189C>T (p.Ala730Val) c.2390C>T (p.Ala797Val) c.2426C>T (p.Ala809Val) c.2402C>T (p.Ala801Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208879G>C | CA388613317 | LIG4 | c.2189C>G (p.Ala730Gly) c.2390C>G (p.Ala797Gly) c.2426C>G (p.Ala809Gly) c.2402C>G (p.Ala801Gly) | |
13 | g.108208879G= | CA2117793958 | LIG4 | c.2189C= (p.Ala730=) c.2390C= (p.Ala797=) c.2426C= (p.Ala809=) c.2402C= (p.Ala801=) | |
13 | g.108208879G>T | CA388613319 | LIG4 | c.2189C>A (p.Ala730Asp) c.2390C>A (p.Ala797Asp) c.2426C>A (p.Ala809Asp) c.2402C>A (p.Ala801Asp) | |
13 | g.108208880C>A | CA7043516 | LIG4 | c.2188G>T (p.Ala730Ser) c.2389G>T (p.Ala797Ser) c.2425G>T (p.Ala809Ser) c.2401G>T (p.Ala801Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208880C= | CA2117793959 | LIG4 | c.2188G= (p.Ala730=) c.2389G= (p.Ala797=) c.2425G= (p.Ala809=) c.2401G= (p.Ala801=) | |
13 | g.108208880C>G | CA388613321 | LIG4 | c.2188G>C (p.Ala730Pro) c.2389G>C (p.Ala797Pro) c.2425G>C (p.Ala809Pro) c.2401G>C (p.Ala801Pro) | |
13 | g.108208880C>T | CA388613323 | LIG4 | c.2188G>A (p.Ala730Thr) c.2389G>A (p.Ala797Thr) c.2425G>A (p.Ala809Thr) c.2401G>A (p.Ala801Thr) | |
13 | g.108208882_108208885dup | CA2695218920 | LIG4 | c.2185_2188dup (p.Ala730AspfsTer3) c.2386_2389dup (p.Ala797AspfsTer3) c.2422_2425dup (p.Ala809AspfsTer3) c.2398_2401dup (p.Ala801AspfsTer3) | |
13 | g.108208881A= | CA2117793960 | LIG4 | c.2187T= (p.Ile729=) c.2388T= (p.Ile796=) c.2424T= (p.Ile808=) c.2400T= (p.Ile800=) | |
13 | g.108208881A>C | CA388613325 | LIG4 | c.2187T>G (p.Ile729Met) c.2388T>G (p.Ile796Met) c.2424T>G (p.Ile808Met) c.2400T>G (p.Ile800Met) | ClinVar dbSNP gnomAD v4 |
13 | g.108208881A>G | CA484975279 | LIG4 | c.2187T>C (p.Ile729=) c.2388T>C (p.Ile796=) c.2424T>C (p.Ile808=) c.2400T>C (p.Ile800=) | ClinVar |
13 | g.108208881A>T | CA484975281 | LIG4 | c.2187T>A (p.Ile729=) c.2388T>A (p.Ile796=) c.2424T>A (p.Ile808=) c.2400T>A (p.Ile800=) | |
13 | g.108208882A= | CA2117793961 | LIG4 | c.2186T= (p.Ile729=) c.2387T= (p.Ile796=) c.2423T= (p.Ile808=) c.2399T= (p.Ile800=) | |
13 | g.108208882A>C | CA388613327 | LIG4 | c.2186T>G (p.Ile729Ser) c.2387T>G (p.Ile796Ser) c.2423T>G (p.Ile808Ser) c.2399T>G (p.Ile800Ser) | ClinVar dbSNP |
13 | g.108208882A>G | CA256179425 | LIG4 | c.2186T>C (p.Ile729Thr) c.2387T>C (p.Ile796Thr) c.2423T>C (p.Ile808Thr) c.2399T>C (p.Ile800Thr) | dbSNP |
13 | g.108208882A>T | CA388613328 | LIG4 | c.2186T>A (p.Ile729Asn) c.2387T>A (p.Ile796Asn) c.2423T>A (p.Ile808Asn) c.2399T>A (p.Ile800Asn) | |
13 | g.108208883T>A | CA388613329 | LIG4 | c.2185A>T (p.Ile729Phe) c.2386A>T (p.Ile796Phe) c.2422A>T (p.Ile808Phe) c.2398A>T (p.Ile800Phe) | |
13 | g.108208883T>C | CA388613331 | LIG4 | c.2185A>G (p.Ile729Val) c.2386A>G (p.Ile796Val) c.2422A>G (p.Ile808Val) c.2398A>G (p.Ile800Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208883T>G | CA388613333 | LIG4 | c.2185A>C (p.Ile729Leu) c.2386A>C (p.Ile796Leu) c.2422A>C (p.Ile808Leu) c.2398A>C (p.Ile800Leu) | |
13 | g.108208883T= | CA2117793962 | LIG4 | c.2185A= (p.Ile729=) c.2386A= (p.Ile796=) c.2422A= (p.Ile808=) c.2398A= (p.Ile800=) | |
13 | g.108208884C>A | CA484975283 | LIG4 | c.2184G>T (p.Leu728=) c.2385G>T (p.Leu795=) c.2421G>T (p.Leu807=) c.2397G>T (p.Leu799=) | COSMIC |
13 | g.108208884C>G | CA484975284 | LIG4 | c.2184G>C (p.Leu728=) c.2385G>C (p.Leu795=) c.2421G>C (p.Leu807=) c.2397G>C (p.Leu799=) | |
13 | g.108208884C>T | CA484975285 | LIG4 | c.2184G>A (p.Leu728=) c.2385G>A (p.Leu795=) c.2421G>A (p.Leu807=) c.2397G>A (p.Leu799=) | |
13 | g.108208885A= | CA2117793963 | LIG4 | c.2183T= (p.Leu728=) c.2384T= (p.Leu795=) c.2420T= (p.Leu807=) c.2396T= (p.Leu799=) | |
13 | g.108208885A>C | CA388613334 | LIG4 | c.2183T>G (p.Leu728Arg) c.2384T>G (p.Leu795Arg) c.2420T>G (p.Leu807Arg) c.2396T>G (p.Leu799Arg) | COSMIC |
13 | g.108208885A>G | CA388613335 | LIG4 | c.2183T>C (p.Leu728Pro) c.2384T>C (p.Leu795Pro) c.2420T>C (p.Leu807Pro) c.2396T>C (p.Leu799Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208885A>T | CA388613337 | LIG4 | c.2183T>A (p.Leu728Gln) c.2384T>A (p.Leu795Gln) c.2420T>A (p.Leu807Gln) c.2396T>A (p.Leu799Gln) | |
13 | g.108208886G>A | CA484975286 | LIG4 | c.2182C>T (p.Leu728=) c.2383C>T (p.Leu795=) c.2419C>T (p.Leu807=) c.2395C>T (p.Leu799=) | |
13 | g.108208886G>C | CA388613340 | LIG4 | c.2182C>G (p.Leu728Val) c.2383C>G (p.Leu795Val) c.2419C>G (p.Leu807Val) c.2395C>G (p.Leu799Val) | |
13 | g.108208886G>T | CA388613339 | LIG4 | c.2182C>A (p.Leu728Met) c.2383C>A (p.Leu795Met) c.2419C>A (p.Leu807Met) c.2395C>A (p.Leu799Met) | |
13 | g.108208887A>C | CA484975288 | LIG4 | c.2181T>G (p.Ser727=) c.2382T>G (p.Ser794=) c.2418T>G (p.Ser806=) c.2394T>G (p.Ser798=) | |
13 | g.108208887A>G | CA484975292 | LIG4 | c.2181T>C (p.Ser727=) c.2382T>C (p.Ser794=) c.2418T>C (p.Ser806=) c.2394T>C (p.Ser798=) | |
13 | g.108208887A>T | CA484975289 | LIG4 | c.2181T>A (p.Ser727=) c.2382T>A (p.Ser794=) c.2418T>A (p.Ser806=) c.2394T>A (p.Ser798=) | |
13 | g.108208888G>A | CA388613342 | LIG4 | c.2180C>T (p.Ser727Phe) c.2381C>T (p.Ser794Phe) c.2417C>T (p.Ser806Phe) c.2393C>T (p.Ser798Phe) | gnomAD v4 |
13 | g.108208888G>C | CA388613345 | LIG4 | c.2180C>G (p.Ser727Cys) c.2381C>G (p.Ser794Cys) c.2417C>G (p.Ser806Cys) c.2393C>G (p.Ser798Cys) | |
13 | g.108208888G>T | CA388613343 | LIG4 | c.2180C>A (p.Ser727Tyr) c.2381C>A (p.Ser794Tyr) c.2417C>A (p.Ser806Tyr) c.2393C>A (p.Ser798Tyr) | |
13 | g.108208889A>C | CA388613347 | LIG4 | c.2179T>G (p.Ser727Ala) c.2380T>G (p.Ser794Ala) c.2416T>G (p.Ser806Ala) c.2392T>G (p.Ser798Ala) | |
13 | g.108208889A>G | CA388613350 | LIG4 | c.2179T>C (p.Ser727Pro) c.2380T>C (p.Ser794Pro) c.2416T>C (p.Ser806Pro) c.2392T>C (p.Ser798Pro) | gnomAD v4 |
13 | g.108208889A>T | CA388613348 | LIG4 | c.2179T>A (p.Ser727Thr) c.2380T>A (p.Ser794Thr) c.2416T>A (p.Ser806Thr) c.2392T>A (p.Ser798Thr) | |
13 | g.108208890A>C | CA484975295 | LIG4 | c.2178T>G (p.Ala726=) c.2379T>G (p.Ala793=) c.2415T>G (p.Ala805=) c.2391T>G (p.Ala797=) | |
13 | g.108208890A>G | CA484975296 | LIG4 | c.2178T>C (p.Ala726=) c.2379T>C (p.Ala793=) c.2415T>C (p.Ala805=) c.2391T>C (p.Ala797=) | |
13 | g.108208890A>T | CA484975297 | LIG4 | c.2178T>A (p.Ala726=) c.2379T>A (p.Ala793=) c.2415T>A (p.Ala805=) c.2391T>A (p.Ala797=) | |
13 | g.108208891G>A | CA388613351 | LIG4 | c.2177C>T (p.Ala726Val) c.2378C>T (p.Ala793Val) c.2414C>T (p.Ala805Val) c.2390C>T (p.Ala797Val) | dbSNP gnomAD v4 |
13 | g.108208891G>C | CA388613355 | LIG4 | c.2177C>G (p.Ala726Gly) c.2378C>G (p.Ala793Gly) c.2414C>G (p.Ala805Gly) c.2390C>G (p.Ala797Gly) | |
13 | g.108208891G= | CA2117793964 | LIG4 | c.2177C= (p.Ala726=) c.2378C= (p.Ala793=) c.2414C= (p.Ala805=) c.2390C= (p.Ala797=) | |
13 | g.108208891G>T | CA388613353 | LIG4 | c.2177C>A (p.Ala726Asp) c.2378C>A (p.Ala793Asp) c.2414C>A (p.Ala805Asp) c.2390C>A (p.Ala797Asp) | |
13 | g.108208892C>A | CA388613357 | LIG4 | c.2176G>T (p.Ala726Ser) c.2377G>T (p.Ala793Ser) c.2413G>T (p.Ala805Ser) c.2389G>T (p.Ala797Ser) | gnomAD v4 |
13 | g.108208892C>G | CA388613359 | LIG4 | c.2176G>C (p.Ala726Pro) c.2377G>C (p.Ala793Pro) c.2413G>C (p.Ala805Pro) c.2389G>C (p.Ala797Pro) | gnomAD v4 |
13 | g.108208892C>T | CA388613358 | LIG4 | c.2176G>A (p.Ala726Thr) c.2377G>A (p.Ala793Thr) c.2413G>A (p.Ala805Thr) c.2389G>A (p.Ala797Thr) | |
13 | g.108208893C>A | CA388613361 | LIG4 | c.2175G>T (p.Met725Ile) c.2376G>T (p.Met792Ile) c.2412G>T (p.Met804Ile) c.2388G>T (p.Met796Ile) | |
13 | g.108208893C>G | CA388613365 | LIG4 | c.2175G>C (p.Met725Ile) c.2376G>C (p.Met792Ile) c.2412G>C (p.Met804Ile) c.2388G>C (p.Met796Ile) | |
13 | g.108208893C>T | CA388613363 | LIG4 | c.2175G>A (p.Met725Ile) c.2376G>A (p.Met792Ile) c.2412G>A (p.Met804Ile) c.2388G>A (p.Met796Ile) | |
13 | g.108208894A>C | CA388613367 | LIG4 | c.2174T>G (p.Met725Arg) c.2375T>G (p.Met792Arg) c.2411T>G (p.Met804Arg) c.2387T>G (p.Met796Arg) | |
13 | g.108208894A>G | CA388613369 | LIG4 | c.2174T>C (p.Met725Thr) c.2375T>C (p.Met792Thr) c.2411T>C (p.Met804Thr) c.2387T>C (p.Met796Thr) | |
13 | g.108208894A>T | CA388613370 | LIG4 | c.2174T>A (p.Met725Lys) c.2375T>A (p.Met792Lys) c.2411T>A (p.Met804Lys) c.2387T>A (p.Met796Lys) | |
13 | g.108208895T>A | CA388613373 | LIG4 | c.2173A>T (p.Met725Leu) c.2374A>T (p.Met792Leu) c.2410A>T (p.Met804Leu) c.2386A>T (p.Met796Leu) | |
13 | g.108208895T>C | CA256179433 | LIG4 | c.2173A>G (p.Met725Val) c.2374A>G (p.Met792Val) c.2410A>G (p.Met804Val) c.2386A>G (p.Met796Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208895T>G | CA388613374 | LIG4 | c.2173A>C (p.Met725Leu) c.2374A>C (p.Met792Leu) c.2410A>C (p.Met804Leu) c.2386A>C (p.Met796Leu) | |
13 | g.108208895T= | CA2117793965 | LIG4 | c.2173A= (p.Met725=) c.2374A= (p.Met792=) c.2410A= (p.Met804=) c.2386A= (p.Met796=) | |
13 | g.108208896T>A | CA388613376 | LIG4 | c.2172A>T (p.Glu724Asp) c.2373A>T (p.Glu791Asp) c.2409A>T (p.Glu803Asp) c.2385A>T (p.Glu795Asp) | |
13 | g.108208896T>C | CA484975301 | LIG4 | c.2172A>G (p.Glu724=) c.2373A>G (p.Glu791=) c.2409A>G (p.Glu803=) c.2385A>G (p.Glu795=) | |
13 | g.108208896T>G | CA388613377 | LIG4 | c.2172A>C (p.Glu724Asp) c.2373A>C (p.Glu791Asp) c.2409A>C (p.Glu803Asp) c.2385A>C (p.Glu795Asp) | gnomAD v4 |
13 | g.108208897T>A | CA388613378 | LIG4 | c.2171A>T (p.Glu724Val) c.2372A>T (p.Glu791Val) c.2408A>T (p.Glu803Val) c.2384A>T (p.Glu795Val) | |
13 | g.108208897T>C | CA388613380 | LIG4 | c.2171A>G (p.Glu724Gly) c.2372A>G (p.Glu791Gly) c.2408A>G (p.Glu803Gly) c.2384A>G (p.Glu795Gly) | |
13 | g.108208897T>G | CA256179446 | LIG4 | c.2171A>C (p.Glu724Ala) c.2372A>C (p.Glu791Ala) c.2408A>C (p.Glu803Ala) c.2384A>C (p.Glu795Ala) | dbSNP |
13 | g.108208897T= | CA2117793966 | LIG4 | c.2171A= (p.Glu724=) c.2372A= (p.Glu791=) c.2408A= (p.Glu803=) c.2384A= (p.Glu795=) | |
13 | g.108208898C>A | CA388613385 | LIG4 | c.2170G>T (p.Glu724Ter) c.2371G>T (p.Glu791Ter) c.2407G>T (p.Glu803Ter) c.2383G>T (p.Glu795Ter) | |
13 | g.108208898C>G | CA388613382 | LIG4 | c.2170G>C (p.Glu724Gln) c.2371G>C (p.Glu791Gln) c.2407G>C (p.Glu803Gln) c.2383G>C (p.Glu795Gln) | |
13 | g.108208898C>T | CA388613383 | LIG4 | c.2170G>A (p.Glu724Lys) c.2371G>A (p.Glu791Lys) c.2407G>A (p.Glu803Lys) c.2383G>A (p.Glu795Lys) | |
13 | g.108208899T>A | CA388613387 | LIG4 | c.2169A>T (p.Glu723Asp) c.2370A>T (p.Glu790Asp) c.2406A>T (p.Glu802Asp) c.2382A>T (p.Glu794Asp) | gnomAD v4 |
13 | g.108208899T>C | CA7043517 | LIG4 | c.2169A>G (p.Glu723=) c.2370A>G (p.Glu790=) c.2406A>G (p.Glu802=) c.2382A>G (p.Glu794=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.108208899T>G | CA388613389 | LIG4 | c.2169A>C (p.Glu723Asp) c.2370A>C (p.Glu790Asp) c.2406A>C (p.Glu802Asp) c.2382A>C (p.Glu794Asp) | |
13 | g.108208899T= | CA2117793967 | LIG4 | c.2169A= (p.Glu723=) c.2370A= (p.Glu790=) c.2406A= (p.Glu802=) c.2382A= (p.Glu794=) | |
13 | g.108208900T>A | CA388613390 | LIG4 | c.2168A>T (p.Glu723Val) c.2369A>T (p.Glu790Val) c.2405A>T (p.Glu802Val) c.2381A>T (p.Glu794Val) | |
13 | g.108208900T>C | CA388613392 | LIG4 | c.2168A>G (p.Glu723Gly) c.2369A>G (p.Glu790Gly) c.2405A>G (p.Glu802Gly) c.2381A>G (p.Glu794Gly) | |
13 | g.108208900T>G | CA388613394 | LIG4 | c.2168A>C (p.Glu723Ala) c.2369A>C (p.Glu790Ala) c.2405A>C (p.Glu802Ala) c.2381A>C (p.Glu794Ala) | |
13 | g.108208901C>A | CA388613395 | LIG4 | c.2167G>T (p.Glu723Ter) c.2368G>T (p.Glu790Ter) c.2404G>T (p.Glu802Ter) c.2380G>T (p.Glu794Ter) | |
13 | g.108208901C>G | CA388613396 | LIG4 | c.2167G>C (p.Glu723Gln) c.2368G>C (p.Glu790Gln) c.2404G>C (p.Glu802Gln) c.2380G>C (p.Glu794Gln) | |
13 | g.108208901C>T | CA388613397 | LIG4 | c.2167G>A (p.Glu723Lys) c.2368G>A (p.Glu790Lys) c.2404G>A (p.Glu802Lys) c.2380G>A (p.Glu794Lys) | gnomAD v4 |
13 | g.108208902A>C | CA484975315 | LIG4 | c.2166T>G (p.Pro722=) c.2367T>G (p.Pro789=) c.2403T>G (p.Pro801=) c.2379T>G (p.Pro793=) | |
13 | g.108208902A>G | CA484975312 | LIG4 | c.2166T>C (p.Pro722=) c.2367T>C (p.Pro789=) c.2403T>C (p.Pro801=) c.2379T>C (p.Pro793=) | |
13 | g.108208902A>T | CA484975314 | LIG4 | c.2166T>A (p.Pro722=) c.2367T>A (p.Pro789=) c.2403T>A (p.Pro801=) c.2379T>A (p.Pro793=) | |
13 | g.108208903G>A | CA388613403 | LIG4 | c.2165C>T (p.Pro722Leu) c.2366C>T (p.Pro789Leu) c.2402C>T (p.Pro801Leu) c.2378C>T (p.Pro793Leu) | gnomAD v4 |
13 | g.108208903G>C | CA388613401 | LIG4 | c.2165C>G (p.Pro722Arg) c.2366C>G (p.Pro789Arg) c.2402C>G (p.Pro801Arg) c.2378C>G (p.Pro793Arg) | |
13 | g.108208903G>T | CA388613399 | LIG4 | c.2165C>A (p.Pro722His) c.2366C>A (p.Pro789His) c.2402C>A (p.Pro801His) c.2378C>A (p.Pro793His) | |
13 | g.108208904G>A | CA388613405 | LIG4 | c.2164C>T (p.Pro722Ser) c.2365C>T (p.Pro789Ser) c.2401C>T (p.Pro801Ser) c.2377C>T (p.Pro793Ser) | dbSNP |
13 | g.108208904G>C | CA388613406 | LIG4 | c.2164C>G (p.Pro722Ala) c.2365C>G (p.Pro789Ala) c.2401C>G (p.Pro801Ala) c.2377C>G (p.Pro793Ala) | |
13 | g.108208904G= | CA2117793968 | LIG4 | c.2164C= (p.Pro722=) c.2365C= (p.Pro789=) c.2401C= (p.Pro801=) c.2377C= (p.Pro793=) | |
13 | g.108208904G>T | CA388613407 | LIG4 | c.2164C>A (p.Pro722Thr) c.2365C>A (p.Pro789Thr) c.2401C>A (p.Pro801Thr) c.2377C>A (p.Pro793Thr) | |
13 | g.108208905A>C | CA484975322 | LIG4 | c.2163T>G (p.Thr721=) c.2364T>G (p.Thr788=) c.2400T>G (p.Thr800=) c.2376T>G (p.Thr792=) | |
13 | g.108208905A>G | CA484975323 | LIG4 | c.2163T>C (p.Thr721=) c.2364T>C (p.Thr788=) c.2400T>C (p.Thr800=) c.2376T>C (p.Thr792=) | |
13 | g.108208905A>T | CA484975324 | LIG4 | c.2163T>A (p.Thr721=) c.2364T>A (p.Thr788=) c.2400T>A (p.Thr800=) c.2376T>A (p.Thr792=) | |
13 | g.108208906G>A | CA388613409 | LIG4 | c.2162C>T (p.Thr721Ile) c.2363C>T (p.Thr788Ile) c.2399C>T (p.Thr800Ile) c.2375C>T (p.Thr792Ile) | dbSNP |
13 | g.108208906G>C | CA388613411 | LIG4 | c.2162C>G (p.Thr721Ser) c.2363C>G (p.Thr788Ser) c.2399C>G (p.Thr800Ser) c.2375C>G (p.Thr792Ser) | dbSNP gnomAD v2 |
13 | g.108208906G= | CA2117793969 | LIG4 | c.2162C= (p.Thr721=) c.2363C= (p.Thr788=) c.2399C= (p.Thr800=) c.2375C= (p.Thr792=) | |
13 | g.108208906G>T | CA388613412 | LIG4 | c.2162C>A (p.Thr721Asn) c.2363C>A (p.Thr788Asn) c.2399C>A (p.Thr800Asn) c.2375C>A (p.Thr792Asn) | |
13 | g.108208907T>A | CA388613414 | LIG4 | c.2161A>T (p.Thr721Ser) c.2362A>T (p.Thr788Ser) c.2398A>T (p.Thr800Ser) c.2374A>T (p.Thr792Ser) | |
13 | g.108208907T>C | CA388613415 | LIG4 | c.2161A>G (p.Thr721Ala) c.2362A>G (p.Thr788Ala) c.2398A>G (p.Thr800Ala) c.2374A>G (p.Thr792Ala) | |
13 | g.108208907T>G | CA388613417 | LIG4 | c.2161A>C (p.Thr721Pro) c.2362A>C (p.Thr788Pro) c.2398A>C (p.Thr800Pro) c.2374A>C (p.Thr792Pro) | |
13 | g.108208908C>A | CA388613419 | LIG4 | c.2160G>T (p.Gln720His) c.2361G>T (p.Gln787His) c.2397G>T (p.Gln799His) c.2373G>T (p.Gln791His) | |
13 | g.108208908C>G | CA388613420 | LIG4 | c.2160G>C (p.Gln720His) c.2361G>C (p.Gln787His) c.2397G>C (p.Gln799His) c.2373G>C (p.Gln791His) | |
13 | g.108208908C>T | CA484975329 | LIG4 | c.2160G>A (p.Gln720=) c.2361G>A (p.Gln787=) c.2397G>A (p.Gln799=) c.2373G>A (p.Gln791=) | |
13 | g.108208909T>A | CA388613426 | LIG4 | c.2159A>T (p.Gln720Leu) c.2360A>T (p.Gln787Leu) c.2396A>T (p.Gln799Leu) c.2372A>T (p.Gln791Leu) | |
13 | g.108208909T>C | CA388613423 | LIG4 | c.2159A>G (p.Gln720Arg) c.2360A>G (p.Gln787Arg) c.2396A>G (p.Gln799Arg) c.2372A>G (p.Gln791Arg) | |
13 | g.108208909T>G | CA388613424 | LIG4 | c.2159A>C (p.Gln720Pro) c.2360A>C (p.Gln787Pro) c.2396A>C (p.Gln799Pro) c.2372A>C (p.Gln791Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208909T= | CA2117793970 | LIG4 | c.2159A= (p.Gln720=) c.2360A= (p.Gln787=) c.2396A= (p.Gln799=) c.2372A= (p.Gln791=) | |
13 | g.108208910G>A | CA388613428 | LIG4 | c.2158C>T (p.Gln720Ter) c.2359C>T (p.Gln787Ter) c.2395C>T (p.Gln799Ter) c.2371C>T (p.Gln791Ter) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208910G>C | CA388613430 | LIG4 | c.2158C>G (p.Gln720Glu) c.2359C>G (p.Gln787Glu) c.2395C>G (p.Gln799Glu) c.2371C>G (p.Gln791Glu) | |
13 | g.108208910G>T | CA388613431 | LIG4 | c.2158C>A (p.Gln720Lys) c.2359C>A (p.Gln787Lys) c.2395C>A (p.Gln799Lys) c.2371C>A (p.Gln791Lys) | |
13 | g.108208911C>A | CA388613433 | LIG4 | c.2157G>T (p.Glu719Asp) c.2358G>T (p.Glu786Asp) c.2394G>T (p.Glu798Asp) c.2370G>T (p.Glu790Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208911C= | CA2117793971 | LIG4 | c.2157G= (p.Glu719=) c.2358G= (p.Glu786=) c.2394G= (p.Glu798=) c.2370G= (p.Glu790=) | |
13 | g.108208911C>G | CA388613434 | LIG4 | c.2157G>C (p.Glu719Asp) c.2358G>C (p.Glu786Asp) c.2394G>C (p.Glu798Asp) c.2370G>C (p.Glu790Asp) | |
13 | g.108208911C>T | CA256179452 | LIG4 | c.2157G>A (p.Glu719=) c.2358G>A (p.Glu786=) c.2394G>A (p.Glu798=) c.2370G>A (p.Glu790=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208912T>A | CA388613436 | LIG4 | c.2156A>T (p.Glu719Val) c.2357A>T (p.Glu786Val) c.2393A>T (p.Glu798Val) c.2369A>T (p.Glu790Val) | gnomAD v4 |
13 | g.108208912T>C | CA388613438 | LIG4 | c.2156A>G (p.Glu719Gly) c.2357A>G (p.Glu786Gly) c.2393A>G (p.Glu798Gly) c.2369A>G (p.Glu790Gly) | |
13 | g.108208912T>G | CA7043518 | LIG4 | c.2156A>C (p.Glu719Ala) c.2357A>C (p.Glu786Ala) c.2393A>C (p.Glu798Ala) c.2369A>C (p.Glu790Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208912T= | CA2117793972 | LIG4 | c.2156A= (p.Glu719=) c.2357A= (p.Glu786=) c.2393A= (p.Glu798=) c.2369A= (p.Glu790=) | |
13 | g.108208913C>A | CA388613440 | LIG4 | c.2155G>T (p.Glu719Ter) c.2356G>T (p.Glu786Ter) c.2392G>T (p.Glu798Ter) c.2368G>T (p.Glu790Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208913C= | CA2117793973 | LIG4 | c.2155G= (p.Glu719=) c.2356G= (p.Glu786=) c.2392G= (p.Glu798=) c.2368G= (p.Glu790=) | |
13 | g.108208913C>G | CA388613442 | LIG4 | c.2155G>C (p.Glu719Gln) c.2356G>C (p.Glu786Gln) c.2392G>C (p.Glu798Gln) c.2368G>C (p.Glu790Gln) | |
13 | g.108208913C>T | CA7043519 | LIG4 | c.2155G>A (p.Glu719Lys) c.2356G>A (p.Glu786Lys) c.2392G>A (p.Glu798Lys) c.2368G>A (p.Glu790Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208914G>A | CA7043520 | LIG4 | c.2154C>T (p.Asn718=) c.2355C>T (p.Asn785=) c.2391C>T (p.Asn797=) c.2367C>T (p.Asn789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208914G>C | CA388613446 | LIG4 | c.2154C>G (p.Asn718Lys) c.2355C>G (p.Asn785Lys) c.2391C>G (p.Asn797Lys) c.2367C>G (p.Asn789Lys) | |
13 | g.108208914G= | CA2117793974 | LIG4 | c.2154C= (p.Asn718=) c.2355C= (p.Asn785=) c.2391C= (p.Asn797=) c.2367C= (p.Asn789=) | |
13 | g.108208914G>T | CA388613444 | LIG4 | c.2154C>A (p.Asn718Lys) c.2355C>A (p.Asn785Lys) c.2391C>A (p.Asn797Lys) c.2367C>A (p.Asn789Lys) | |
13 | g.108208915T>A | CA388613448 | LIG4 | c.2153A>T (p.Asn718Ile) c.2354A>T (p.Asn785Ile) c.2390A>T (p.Asn797Ile) c.2366A>T (p.Asn789Ile) | |
13 | g.108208915T>C | CA388613450 | LIG4 | c.2153A>G (p.Asn718Ser) c.2354A>G (p.Asn785Ser) c.2390A>G (p.Asn797Ser) c.2366A>G (p.Asn789Ser) | gnomAD v4 |
13 | g.108208915T>G | CA388613451 | LIG4 | c.2153A>C (p.Asn718Thr) c.2354A>C (p.Asn785Thr) c.2390A>C (p.Asn797Thr) c.2366A>C (p.Asn789Thr) | |
13 | g.108208916T>A | CA388613453 | LIG4 | c.2152A>T (p.Asn718Tyr) c.2353A>T (p.Asn785Tyr) c.2389A>T (p.Asn797Tyr) c.2365A>T (p.Asn789Tyr) | |
13 | g.108208916T>C | CA388613455 | LIG4 | c.2152A>G (p.Asn718Asp) c.2353A>G (p.Asn785Asp) c.2389A>G (p.Asn797Asp) c.2365A>G (p.Asn789Asp) | |
13 | g.108208916T>G | CA388613456 | LIG4 | c.2152A>C (p.Asn718His) c.2353A>C (p.Asn785His) c.2389A>C (p.Asn797His) c.2365A>C (p.Asn789His) | |
13 | g.108208917A= | CA2117793975 | LIG4 | c.2151T= (p.Ser717=) c.2352T= (p.Ser784=) c.2388T= (p.Ser796=) c.2364T= (p.Ser788=) | |
13 | g.108208917A>C | CA484975340 | LIG4 | c.2151T>G (p.Ser717=) c.2352T>G (p.Ser784=) c.2388T>G (p.Ser796=) c.2364T>G (p.Ser788=) | |
13 | g.108208917A>G | CA484975343 | LIG4 | c.2151T>C (p.Ser717=) c.2352T>C (p.Ser784=) c.2388T>C (p.Ser796=) c.2364T>C (p.Ser788=) | gnomAD v4 |
13 | g.108208917A>T | CA484975346 | LIG4 | c.2151T>A (p.Ser717=) c.2352T>A (p.Ser784=) c.2388T>A (p.Ser796=) c.2364T>A (p.Ser788=) | dbSNP |
13 | g.108208918G>A | CA388613460 | LIG4 | c.2150C>T (p.Ser717Phe) c.2351C>T (p.Ser784Phe) c.2387C>T (p.Ser796Phe) c.2363C>T (p.Ser788Phe) | |
13 | g.108208918G>C | CA388613458 | LIG4 | c.2150C>G (p.Ser717Cys) c.2351C>G (p.Ser784Cys) c.2387C>G (p.Ser796Cys) c.2363C>G (p.Ser788Cys) | |
13 | g.108208918G>T | CA388613459 | LIG4 | c.2150C>A (p.Ser717Tyr) c.2351C>A (p.Ser784Tyr) c.2387C>A (p.Ser796Tyr) c.2363C>A (p.Ser788Tyr) | |
13 | g.108208919A= | CA2117793976 | LIG4 | c.2149T= (p.Ser717=) c.2350T= (p.Ser784=) c.2386T= (p.Ser796=) c.2362T= (p.Ser788=) | |
13 | g.108208919A>C | CA388613461 | LIG4 | c.2149T>G (p.Ser717Ala) c.2350T>G (p.Ser784Ala) c.2386T>G (p.Ser796Ala) c.2362T>G (p.Ser788Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208919A>G | CA388613462 | LIG4 | c.2149T>C (p.Ser717Pro) c.2350T>C (p.Ser784Pro) c.2386T>C (p.Ser796Pro) c.2362T>C (p.Ser788Pro) | |
13 | g.108208919A>T | CA388613463 | LIG4 | c.2149T>A (p.Ser717Thr) c.2350T>A (p.Ser784Thr) c.2386T>A (p.Ser796Thr) c.2362T>A (p.Ser788Thr) | |
13 | g.108208920A>C | CA388613464 | LIG4 | c.2148T>G (p.Asn716Lys) c.2349T>G (p.Asn783Lys) c.2385T>G (p.Asn795Lys) c.2361T>G (p.Asn787Lys) | gnomAD v4 |
13 | g.108208920A>G | CA484975350 | LIG4 | c.2148T>C (p.Asn716=) c.2349T>C (p.Asn783=) c.2385T>C (p.Asn795=) c.2361T>C (p.Asn787=) | |
13 | g.108208920A>T | CA388613465 | LIG4 | c.2148T>A (p.Asn716Lys) c.2349T>A (p.Asn783Lys) c.2385T>A (p.Asn795Lys) c.2361T>A (p.Asn787Lys) | |
13 | g.108208921T>A | CA388613466 | LIG4 | c.2147A>T (p.Asn716Ile) c.2348A>T (p.Asn783Ile) c.2384A>T (p.Asn795Ile) c.2360A>T (p.Asn787Ile) | |
13 | g.108208921T>C | CA388613468 | LIG4 | c.2147A>G (p.Asn716Ser) c.2348A>G (p.Asn783Ser) c.2384A>G (p.Asn795Ser) c.2360A>G (p.Asn787Ser) | |
13 | g.108208921T>G | CA388613467 | LIG4 | c.2147A>C (p.Asn716Thr) c.2348A>C (p.Asn783Thr) c.2384A>C (p.Asn795Thr) c.2360A>C (p.Asn787Thr) | |
13 | g.108208922T>A | CA388613469 | LIG4 | c.2146A>T (p.Asn716Tyr) c.2347A>T (p.Asn783Tyr) c.2383A>T (p.Asn795Tyr) c.2359A>T (p.Asn787Tyr) | |
13 | g.108208922T>C | CA388613470 | LIG4 | c.2146A>G (p.Asn716Asp) c.2347A>G (p.Asn783Asp) c.2383A>G (p.Asn795Asp) c.2359A>G (p.Asn787Asp) | |
13 | g.108208922T>G | CA388613471 | LIG4 | c.2146A>C (p.Asn716His) c.2347A>C (p.Asn783His) c.2383A>C (p.Asn795His) c.2359A>C (p.Asn787His) | |
13 | g.108208923T>A | CA388613472 | LIG4 | c.2145A>T (p.Lys715Asn) c.2346A>T (p.Lys782Asn) c.2382A>T (p.Lys794Asn) c.2358A>T (p.Lys786Asn) | |
13 | g.108208923T>C | CA484975360 | LIG4 | c.2145A>G (p.Lys715=) c.2346A>G (p.Lys782=) c.2382A>G (p.Lys794=) c.2358A>G (p.Lys786=) | |
13 | g.108208923T>G | CA388613473 | LIG4 | c.2145A>C (p.Lys715Asn) c.2346A>C (p.Lys782Asn) c.2382A>C (p.Lys794Asn) c.2358A>C (p.Lys786Asn) | |
13 | g.108208924T>A | CA388613474 | LIG4 | c.2144A>T (p.Lys715Ile) c.2345A>T (p.Lys782Ile) c.2381A>T (p.Lys794Ile) c.2357A>T (p.Lys786Ile) | |
13 | g.108208924T>C | CA388613475 | LIG4 | c.2144A>G (p.Lys715Arg) c.2345A>G (p.Lys782Arg) c.2381A>G (p.Lys794Arg) c.2357A>G (p.Lys786Arg) | |
13 | g.108208924T>G | CA388613476 | LIG4 | c.2144A>C (p.Lys715Thr) c.2345A>C (p.Lys782Thr) c.2381A>C (p.Lys794Thr) c.2357A>C (p.Lys786Thr) | |
13 | g.108208925T>A | CA388613477 | LIG4 | c.2143A>T (p.Lys715Ter) c.2344A>T (p.Lys782Ter) c.2380A>T (p.Lys794Ter) c.2356A>T (p.Lys786Ter) | |
13 | g.108208925T>C | CA388613478 | LIG4 | c.2143A>G (p.Lys715Glu) c.2344A>G (p.Lys782Glu) c.2380A>G (p.Lys794Glu) c.2356A>G (p.Lys786Glu) | |
13 | g.108208925T>G | CA388613479 | LIG4 | c.2143A>C (p.Lys715Gln) c.2344A>C (p.Lys782Gln) c.2380A>C (p.Lys794Gln) c.2356A>C (p.Lys786Gln) | |
13 | g.108208926A>C | CA388613480 | LIG4 | c.2142T>G (p.Ile714Met) c.2343T>G (p.Ile781Met) c.2379T>G (p.Ile793Met) c.2355T>G (p.Ile785Met) | |
13 | g.108208926A>G | CA484975369 | LIG4 | c.2142T>C (p.Ile714=) c.2343T>C (p.Ile781=) c.2379T>C (p.Ile793=) c.2355T>C (p.Ile785=) | |
13 | g.108208926A>T | CA484975370 | LIG4 | c.2142T>A (p.Ile714=) c.2343T>A (p.Ile781=) c.2379T>A (p.Ile793=) c.2355T>A (p.Ile785=) | |
13 | g.108208927A>C | CA388613481 | LIG4 | c.2141T>G (p.Ile714Ser) c.2342T>G (p.Ile781Ser) c.2378T>G (p.Ile793Ser) c.2354T>G (p.Ile785Ser) | |
13 | g.108208927A>G | CA388613483 | LIG4 | c.2141T>C (p.Ile714Thr) c.2342T>C (p.Ile781Thr) c.2378T>C (p.Ile793Thr) c.2354T>C (p.Ile785Thr) | |
13 | g.108208927A>T | CA388613482 | LIG4 | c.2141T>A (p.Ile714Asn) c.2342T>A (p.Ile781Asn) c.2378T>A (p.Ile793Asn) c.2354T>A (p.Ile785Asn) | |
13 | g.108208928T>A | CA388613484 | LIG4 | c.2140A>T (p.Ile714Phe) c.2341A>T (p.Ile781Phe) c.2377A>T (p.Ile793Phe) c.2353A>T (p.Ile785Phe) | |
13 | g.108208928T>C | CA388613485 | LIG4 | c.2140A>G (p.Ile714Val) c.2341A>G (p.Ile781Val) c.2377A>G (p.Ile793Val) c.2353A>G (p.Ile785Val) | dbSNP |
13 | g.108208928T>G | CA388613486 | LIG4 | c.2140A>C (p.Ile714Leu) c.2341A>C (p.Ile781Leu) c.2377A>C (p.Ile793Leu) c.2353A>C (p.Ile785Leu) | |
13 | g.108208929T>A | CA484975372 | LIG4 | c.2139A>T (p.Gly713=) c.2340A>T (p.Gly780=) c.2376A>T (p.Gly792=) c.2352A>T (p.Gly784=) | |
13 | g.108208929T>C | CA484975374 | LIG4 | c.2139A>G (p.Gly713=) c.2340A>G (p.Gly780=) c.2376A>G (p.Gly792=) c.2352A>G (p.Gly784=) | |
13 | g.108208929T>G | CA484975376 | LIG4 | c.2139A>C (p.Gly713=) c.2340A>C (p.Gly780=) c.2376A>C (p.Gly792=) c.2352A>C (p.Gly784=) | |
13 | g.108208930C>A | CA256179487 | LIG4 | c.2138G>T (p.Gly713Val) c.2339G>T (p.Gly780Val) c.2375G>T (p.Gly792Val) c.2351G>T (p.Gly784Val) | dbSNP gnomAD v4 |
13 | g.108208930C= | CA2117793977 | LIG4 | c.2138G= (p.Gly713=) c.2339G= (p.Gly780=) c.2375G= (p.Gly792=) c.2351G= (p.Gly784=) | |
13 | g.108208930C>G | CA388613487 | LIG4 | c.2138G>C (p.Gly713Ala) c.2339G>C (p.Gly780Ala) c.2375G>C (p.Gly792Ala) c.2351G>C (p.Gly784Ala) | |
13 | g.108208930C>T | CA256179493 | LIG4 | c.2138G>A (p.Gly713Glu) c.2339G>A (p.Gly780Glu) c.2375G>A (p.Gly792Glu) c.2351G>A (p.Gly784Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208931C>A | CA388613488 | LIG4 | c.2137G>T (p.Gly713Ter) c.2338G>T (p.Gly780Ter) c.2374G>T (p.Gly792Ter) c.2350G>T (p.Gly784Ter) | |
13 | g.108208931C>G | CA388613489 | LIG4 | c.2137G>C (p.Gly713Arg) c.2338G>C (p.Gly780Arg) c.2374G>C (p.Gly792Arg) c.2350G>C (p.Gly784Arg) | |
13 | g.108208931C>T | CA388613490 | LIG4 | c.2137G>A (p.Gly713Arg) c.2338G>A (p.Gly780Arg) c.2374G>A (p.Gly792Arg) c.2350G>A (p.Gly784Arg) | |
13 | g.108208932T>A | CA484975379 | LIG4 | c.2136A>T (p.Ser712=) c.2337A>T (p.Ser779=) c.2373A>T (p.Ser791=) c.2349A>T (p.Ser783=) | |
13 | g.108208932T>C | CA484975380 | LIG4 | c.2136A>G (p.Ser712=) c.2337A>G (p.Ser779=) c.2373A>G (p.Ser791=) c.2349A>G (p.Ser783=) | |
13 | g.108208932T>G | CA484975383 | LIG4 | c.2136A>C (p.Ser712=) c.2337A>C (p.Ser779=) c.2373A>C (p.Ser791=) c.2349A>C (p.Ser783=) | |
13 | g.108208933del | CA2580087241 | LIG4 | c.2135del (p.Ser712Ter) c.2336del (p.Ser779Ter) c.2372del (p.Ser791Ter) c.2348del (p.Ser783Ter) | ClinVar |
13 | g.108208933G>A | CA388613491 | LIG4 | c.2135C>T (p.Ser712Leu) c.2336C>T (p.Ser779Leu) c.2372C>T (p.Ser791Leu) c.2348C>T (p.Ser783Leu) | |
13 | g.108208933G>C | CA388613492 | LIG4 | c.2135C>G (p.Ser712Ter) c.2336C>G (p.Ser779Ter) c.2372C>G (p.Ser791Ter) c.2348C>G (p.Ser783Ter) | |
13 | g.108208933G>T | CA388613493 | LIG4 | c.2135C>A (p.Ser712Ter) c.2336C>A (p.Ser779Ter) c.2372C>A (p.Ser791Ter) c.2348C>A (p.Ser783Ter) | |
13 | g.108208934A= | CA2117793978 | LIG4 | c.2134T= (p.Ser712=) c.2335T= (p.Ser779=) c.2371T= (p.Ser791=) c.2347T= (p.Ser783=) | |
13 | g.108208934A>C | CA388613496 | LIG4 | c.2134T>G (p.Ser712Ala) c.2335T>G (p.Ser779Ala) c.2371T>G (p.Ser791Ala) c.2347T>G (p.Ser783Ala) | |
13 | g.108208934A>G | CA388613494 | LIG4 | c.2134T>C (p.Ser712Pro) c.2335T>C (p.Ser779Pro) c.2371T>C (p.Ser791Pro) c.2347T>C (p.Ser783Pro) | |
13 | g.108208934A>T | CA388613495 | LIG4 | c.2134T>A (p.Ser712Thr) c.2335T>A (p.Ser779Thr) c.2371T>A (p.Ser791Thr) c.2347T>A (p.Ser783Thr) | |
13 | g.108208935G>A | CA484975390 | LIG4 | c.2133C>T (p.Phe711=) c.2334C>T (p.Phe778=) c.2370C>T (p.Phe790=) c.2346C>T (p.Phe782=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208935G>C | CA388613497 | LIG4 | c.2133C>G (p.Phe711Leu) c.2334C>G (p.Phe778Leu) c.2370C>G (p.Phe790Leu) c.2346C>G (p.Phe782Leu) | |
13 | g.108208935G= | CA2117793980 | LIG4 | c.2133C= (p.Phe711=) c.2334C= (p.Phe778=) c.2370C= (p.Phe790=) c.2346C= (p.Phe782=) | |
13 | g.108208935G>T | CA388613498 | LIG4 | c.2133C>A (p.Phe711Leu) c.2334C>A (p.Phe778Leu) c.2370C>A (p.Phe790Leu) c.2346C>A (p.Phe782Leu) | |
13 | g.108208935_108208938dup | CA2117793979 | LIG4 | c.2130_2133dup (p.Ser712IlefsTer5) c.2331_2334dup (p.Ser779IlefsTer5) c.2367_2370dup (p.Ser791IlefsTer5) c.2343_2346dup (p.Ser783IlefsTer5) | dbSNP |
13 | g.108208936A>C | CA388613499 | LIG4 | c.2132T>G (p.Phe711Cys) c.2333T>G (p.Phe778Cys) c.2369T>G (p.Phe790Cys) c.2345T>G (p.Phe782Cys) | |
13 | g.108208936A>G | CA388613500 | LIG4 | c.2132T>C (p.Phe711Ser) c.2333T>C (p.Phe778Ser) c.2369T>C (p.Phe790Ser) c.2345T>C (p.Phe782Ser) | gnomAD v4 |
13 | g.108208936A>T | CA388613501 | LIG4 | c.2132T>A (p.Phe711Tyr) c.2333T>A (p.Phe778Tyr) c.2369T>A (p.Phe790Tyr) c.2345T>A (p.Phe782Tyr) | |
13 | g.108208937A= | CA2117793981 | LIG4 | c.2131T= (p.Phe711=) c.2332T= (p.Phe778=) c.2368T= (p.Phe790=) c.2344T= (p.Phe782=) | |
13 | g.108208937A>C | CA256179528 | LIG4 | c.2131T>G (p.Phe711Val) c.2332T>G (p.Phe778Val) c.2368T>G (p.Phe790Val) c.2344T>G (p.Phe782Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208937A>G | CA7043521 | LIG4 | c.2131T>C (p.Phe711Leu) c.2332T>C (p.Phe778Leu) c.2368T>C (p.Phe790Leu) c.2344T>C (p.Phe782Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208937A>T | CA388613502 | LIG4 | c.2131T>A (p.Phe711Ile) c.2332T>A (p.Phe778Ile) c.2368T>A (p.Phe790Ile) c.2344T>A (p.Phe782Ile) | |
13 | g.108208937_108208953del | CA2739277736 | LIG4 | c.2115_2131del (p.Gln706LeufsTer4) c.2316_2332del (p.Gln773LeufsTer4) c.2352_2368del (p.Gln785LeufsTer4) c.2328_2344del (p.Gln777LeufsTer4) | ClinVar |
13 | g.108208938T>A | CA484975395 | LIG4 | c.2130A>T (p.Val710=) c.2331A>T (p.Val777=) c.2367A>T (p.Val789=) c.2343A>T (p.Val781=) | |
13 | g.108208938T>C | CA7043522 | LIG4 | c.2130A>G (p.Val710=) c.2331A>G (p.Val777=) c.2367A>G (p.Val789=) c.2343A>G (p.Val781=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208938T>G | CA484975397 | LIG4 | c.2130A>C (p.Val710=) c.2331A>C (p.Val777=) c.2367A>C (p.Val789=) c.2343A>C (p.Val781=) | |
13 | g.108208938T= | CA2117793982 | LIG4 | c.2130A= (p.Val710=) c.2331A= (p.Val777=) c.2367A= (p.Val789=) c.2343A= (p.Val781=) | |
13 | g.108208939A>C | CA388613503 | LIG4 | c.2129T>G (p.Val710Gly) c.2330T>G (p.Val777Gly) c.2366T>G (p.Val789Gly) c.2342T>G (p.Val781Gly) | |
13 | g.108208939A>G | CA388613504 | LIG4 | c.2129T>C (p.Val710Ala) c.2330T>C (p.Val777Ala) c.2366T>C (p.Val789Ala) c.2342T>C (p.Val781Ala) | |
13 | g.108208939A>T | CA388613505 | LIG4 | c.2129T>A (p.Val710Glu) c.2330T>A (p.Val777Glu) c.2366T>A (p.Val789Glu) c.2342T>A (p.Val781Glu) | |
13 | g.108208940C>A | CA388613507 | LIG4 | c.2128G>T (p.Val710Leu) c.2329G>T (p.Val777Leu) c.2365G>T (p.Val789Leu) c.2341G>T (p.Val781Leu) | |
13 | g.108208940C>G | CA388613508 | LIG4 | c.2128G>C (p.Val710Leu) c.2329G>C (p.Val777Leu) c.2365G>C (p.Val789Leu) c.2341G>C (p.Val781Leu) | |
13 | g.108208940C>T | CA388613506 | LIG4 | c.2128G>A (p.Val710Ile) c.2329G>A (p.Val777Ile) c.2365G>A (p.Val789Ile) c.2341G>A (p.Val781Ile) | |
13 | g.108208941T>A | CA388613510 | LIG4 | c.2127A>T (p.Glu709Asp) c.2328A>T (p.Glu776Asp) c.2364A>T (p.Glu788Asp) c.2340A>T (p.Glu780Asp) | COSMIC |
13 | g.108208941T>C | CA484975402 | LIG4 | c.2127A>G (p.Glu709=) c.2328A>G (p.Glu776=) c.2364A>G (p.Glu788=) c.2340A>G (p.Glu780=) | |
13 | g.108208941T>G | CA388613509 | LIG4 | c.2127A>C (p.Glu709Asp) c.2328A>C (p.Glu776Asp) c.2364A>C (p.Glu788Asp) c.2340A>C (p.Glu780Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208941T= | CA2117793983 | LIG4 | c.2127A= (p.Glu709=) c.2328A= (p.Glu776=) c.2364A= (p.Glu788=) c.2340A= (p.Glu780=) | |
13 | g.108208942T>A | CA388613513 | LIG4 | c.2126A>T (p.Glu709Val) c.2327A>T (p.Glu776Val) c.2363A>T (p.Glu788Val) c.2339A>T (p.Glu780Val) | |
13 | g.108208942T>C | CA388613511 | LIG4 | c.2126A>G (p.Glu709Gly) c.2327A>G (p.Glu776Gly) c.2363A>G (p.Glu788Gly) c.2339A>G (p.Glu780Gly) | |
13 | g.108208942T>G | CA388613512 | LIG4 | c.2126A>C (p.Glu709Ala) c.2327A>C (p.Glu776Ala) c.2363A>C (p.Glu788Ala) c.2339A>C (p.Glu780Ala) | |
13 | g.108208942_108208943delinsTC | CA2117793984 | LIG4 | c.2125_2126delinsGA (p.Glu709=) c.2326_2327delinsGA (p.Glu776=) c.2362_2363delinsGA (p.Glu788=) c.2338_2339delinsGA (p.Glu780=) | |
13 | g.108208943C>A | CA388613514 | LIG4 | c.2125G>T (p.Glu709Ter) c.2326G>T (p.Glu776Ter) c.2362G>T (p.Glu788Ter) c.2338G>T (p.Glu780Ter) | |
13 | g.108208943C>G | CA388613515 | LIG4 | c.2125G>C (p.Glu709Gln) c.2326G>C (p.Glu776Gln) c.2362G>C (p.Glu788Gln) c.2338G>C (p.Glu780Gln) | COSMIC |
13 | g.108208943C>T | CA388613516 | LIG4 | c.2125G>A (p.Glu709Lys) c.2326G>A (p.Glu776Lys) c.2362G>A (p.Glu788Lys) c.2338G>A (p.Glu780Lys) | |
13 | g.108208944del | CA7043523 | LIG4 | c.2125del (p.Glu709LysfsTer20) c.2326del (p.Glu776LysfsTer20) c.2362del (p.Glu788LysfsTer20) c.2338del (p.Glu780LysfsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208944C>A | CA388613518 | LIG4 | c.2124G>T (p.Lys708Asn) c.2325G>T (p.Lys775Asn) c.2361G>T (p.Lys787Asn) c.2337G>T (p.Lys779Asn) | |
13 | g.108208944C>G | CA388613517 | LIG4 | c.2124G>C (p.Lys708Asn) c.2325G>C (p.Lys775Asn) c.2361G>C (p.Lys787Asn) c.2337G>C (p.Lys779Asn) | |
13 | g.108208944C>T | CA484975410 | LIG4 | c.2124G>A (p.Lys708=) c.2325G>A (p.Lys775=) c.2361G>A (p.Lys787=) c.2337G>A (p.Lys779=) | |
13 | g.108208945T>A | CA388613519 | LIG4 | c.2123A>T (p.Lys708Met) c.2324A>T (p.Lys775Met) c.2360A>T (p.Lys787Met) c.2336A>T (p.Lys779Met) | COSMIC |
13 | g.108208945T>C | CA388613520 | LIG4 | c.2123A>G (p.Lys708Arg) c.2324A>G (p.Lys775Arg) c.2360A>G (p.Lys787Arg) c.2336A>G (p.Lys779Arg) | |
13 | g.108208945T>G | CA388613521 | LIG4 | c.2123A>C (p.Lys708Thr) c.2324A>C (p.Lys775Thr) c.2360A>C (p.Lys787Thr) c.2336A>C (p.Lys779Thr) | |
13 | g.108208946T>A | CA388613522 | LIG4 | c.2122A>T (p.Lys708Ter) c.2323A>T (p.Lys775Ter) c.2359A>T (p.Lys787Ter) c.2335A>T (p.Lys779Ter) | |
13 | g.108208946T>C | CA388613523 | LIG4 | c.2122A>G (p.Lys708Glu) c.2323A>G (p.Lys775Glu) c.2359A>G (p.Lys787Glu) c.2335A>G (p.Lys779Glu) | |
13 | g.108208946T>G | CA388613524 | LIG4 | c.2122A>C (p.Lys708Gln) c.2323A>C (p.Lys775Gln) c.2359A>C (p.Lys787Gln) c.2335A>C (p.Lys779Gln) | |
13 | g.108208947C>A | CA484975415 | LIG4 | c.2121G>T (p.Leu707=) c.2322G>T (p.Leu774=) c.2358G>T (p.Leu786=) c.2334G>T (p.Leu778=) | |
13 | g.108208947C>G | CA484975416 | LIG4 | c.2121G>C (p.Leu707=) c.2322G>C (p.Leu774=) c.2358G>C (p.Leu786=) c.2334G>C (p.Leu778=) | |
13 | g.108208947C>T | CA484975418 | LIG4 | c.2121G>A (p.Leu707=) c.2322G>A (p.Leu774=) c.2358G>A (p.Leu786=) c.2334G>A (p.Leu778=) | gnomAD v4 |
13 | g.108208948A= | CA2117793985 | LIG4 | c.2120T= (p.Leu707=) c.2321T= (p.Leu774=) c.2357T= (p.Leu786=) c.2333T= (p.Leu778=) | |
13 | g.108208948A>C | CA388613525 | LIG4 | c.2120T>G (p.Leu707Arg) c.2321T>G (p.Leu774Arg) c.2357T>G (p.Leu786Arg) c.2333T>G (p.Leu778Arg) | |
13 | g.108208948A>G | CA16609403 | LIG4 | c.2120T>C (p.Leu707Pro) c.2321T>C (p.Leu774Pro) c.2357T>C (p.Leu786Pro) c.2333T>C (p.Leu778Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.108208948A>T | CA388613526 | LIG4 | c.2120T>A (p.Leu707Gln) c.2321T>A (p.Leu774Gln) c.2357T>A (p.Leu786Gln) c.2333T>A (p.Leu778Gln) | |
13 | g.108208949G>A | CA256179578 | LIG4 | c.2119C>T (p.Leu707=) c.2320C>T (p.Leu774=) c.2356C>T (p.Leu786=) c.2332C>T (p.Leu778=) | ClinVar dbSNP |
13 | g.108208949G>C | CA7043524 | LIG4 | c.2119C>G (p.Leu707Val) c.2320C>G (p.Leu774Val) c.2356C>G (p.Leu786Val) c.2332C>G (p.Leu778Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208949G= | CA2117793986 | LIG4 | c.2119C= (p.Leu707=) c.2320C= (p.Leu774=) c.2356C= (p.Leu786=) c.2332C= (p.Leu778=) | |
13 | g.108208949G>T | CA388613527 | LIG4 | c.2119C>A (p.Leu707Met) c.2320C>A (p.Leu774Met) c.2356C>A (p.Leu786Met) c.2332C>A (p.Leu778Met) | |
13 | g.108208950T>A | CA388613528 | LIG4 | c.2118A>T (p.Gln706His) c.2319A>T (p.Gln773His) c.2355A>T (p.Gln785His) c.2331A>T (p.Gln777His) | |
13 | g.108208950T>C | CA484975421 | LIG4 | c.2118A>G (p.Gln706=) c.2319A>G (p.Gln773=) c.2355A>G (p.Gln785=) c.2331A>G (p.Gln777=) | ClinVar dbSNP gnomAD v4 |
13 | g.108208950T>G | CA388613529 | LIG4 | c.2118A>C (p.Gln706His) c.2319A>C (p.Gln773His) c.2355A>C (p.Gln785His) c.2331A>C (p.Gln777His) | |
13 | g.108208950T= | CA2117793987 | LIG4 | c.2118A= (p.Gln706=) c.2319A= (p.Gln773=) c.2355A= (p.Gln785=) c.2331A= (p.Gln777=) | |
13 | g.108208951T>A | CA388613530 | LIG4 | c.2117A>T (p.Gln706Leu) c.2318A>T (p.Gln773Leu) c.2354A>T (p.Gln785Leu) c.2330A>T (p.Gln777Leu) | |
13 | g.108208951T>C | CA388613531 | LIG4 | c.2117A>G (p.Gln706Arg) c.2318A>G (p.Gln773Arg) c.2354A>G (p.Gln785Arg) c.2330A>G (p.Gln777Arg) | |
13 | g.108208951T>G | CA388613532 | LIG4 | c.2117A>C (p.Gln706Pro) c.2318A>C (p.Gln773Pro) c.2354A>C (p.Gln785Pro) c.2330A>C (p.Gln777Pro) | |
13 | g.108208952G>A | CA388613533 | LIG4 | c.2116C>T (p.Gln706Ter) c.2317C>T (p.Gln773Ter) c.2353C>T (p.Gln785Ter) c.2329C>T (p.Gln777Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208952G>C | CA388613534 | LIG4 | c.2116C>G (p.Gln706Glu) c.2317C>G (p.Gln773Glu) c.2353C>G (p.Gln785Glu) c.2329C>G (p.Gln777Glu) | |
13 | g.108208952G= | CA2117793988 | LIG4 | c.2116C= (p.Gln706=) c.2317C= (p.Gln773=) c.2353C= (p.Gln785=) c.2329C= (p.Gln777=) | |
13 | g.108208952G>T | CA388613535 | LIG4 | c.2116C>A (p.Gln706Lys) c.2317C>A (p.Gln773Lys) c.2353C>A (p.Gln785Lys) c.2329C>A (p.Gln777Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208953G>A | CA256179613 | LIG4 | c.2115C>T (p.Asn705=) c.2316C>T (p.Asn772=) c.2352C>T (p.Asn784=) c.2328C>T (p.Asn776=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208953G>C | CA256179621 | LIG4 | c.2115C>G (p.Asn705Lys) c.2316C>G (p.Asn772Lys) c.2352C>G (p.Asn784Lys) c.2328C>G (p.Asn776Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208953G= | CA2117793989 | LIG4 | c.2115C= (p.Asn705=) c.2316C= (p.Asn772=) c.2352C= (p.Asn784=) c.2328C= (p.Asn776=) | |
13 | g.108208953G>T | CA388613536 | LIG4 | c.2115C>A (p.Asn705Lys) c.2316C>A (p.Asn772Lys) c.2352C>A (p.Asn784Lys) c.2328C>A (p.Asn776Lys) | gnomAD v4 |
13 | g.108208954T>A | CA388613537 | LIG4 | c.2114A>T (p.Asn705Ile) c.2315A>T (p.Asn772Ile) c.2351A>T (p.Asn784Ile) c.2327A>T (p.Asn776Ile) | |
13 | g.108208954T>C | CA388613538 | LIG4 | c.2114A>G (p.Asn705Ser) c.2315A>G (p.Asn772Ser) c.2351A>G (p.Asn784Ser) c.2327A>G (p.Asn776Ser) | |
13 | g.108208954T>G | CA388613539 | LIG4 | c.2114A>C (p.Asn705Thr) c.2315A>C (p.Asn772Thr) c.2351A>C (p.Asn784Thr) c.2327A>C (p.Asn776Thr) | |
13 | g.108208955T>A | CA7043525 | LIG4 | c.2113A>T (p.Asn705Tyr) c.2314A>T (p.Asn772Tyr) c.2350A>T (p.Asn784Tyr) c.2326A>T (p.Asn776Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208955T>C | CA388613540 | LIG4 | c.2113A>G (p.Asn705Asp) c.2314A>G (p.Asn772Asp) c.2350A>G (p.Asn784Asp) c.2326A>G (p.Asn776Asp) | |
13 | g.108208955T>G | CA388613541 | LIG4 | c.2113A>C (p.Asn705His) c.2314A>C (p.Asn772His) c.2350A>C (p.Asn784His) c.2326A>C (p.Asn776His) | |
13 | g.108208955T= | CA2117793990 | LIG4 | c.2113A= (p.Asn705=) c.2314A= (p.Asn772=) c.2350A= (p.Asn784=) c.2326A= (p.Asn776=) | |
13 | g.108208956C>A | CA388613542 | LIG4 | c.2112G>T (p.Leu704Phe) c.2313G>T (p.Leu771Phe) c.2349G>T (p.Leu783Phe) c.2325G>T (p.Leu775Phe) | |
13 | g.108208956C>G | CA388613543 | LIG4 | c.2112G>C (p.Leu704Phe) c.2313G>C (p.Leu771Phe) c.2349G>C (p.Leu783Phe) c.2325G>C (p.Leu775Phe) | gnomAD v4 |
13 | g.108208956C>T | CA484975429 | LIG4 | c.2112G>A (p.Leu704=) c.2313G>A (p.Leu771=) c.2349G>A (p.Leu783=) c.2325G>A (p.Leu775=) | |
13 | g.108208957A>C | CA388613544 | LIG4 | c.2111T>G (p.Leu704Trp) c.2312T>G (p.Leu771Trp) c.2348T>G (p.Leu783Trp) c.2324T>G (p.Leu775Trp) | |
13 | g.108208957A>G | CA388613545 | LIG4 | c.2111T>C (p.Leu704Ser) c.2312T>C (p.Leu771Ser) c.2348T>C (p.Leu783Ser) c.2324T>C (p.Leu775Ser) | |
13 | g.108208957A>T | CA388613546 | LIG4 | c.2111T>A (p.Leu704Ter) c.2312T>A (p.Leu771Ter) c.2348T>A (p.Leu783Ter) c.2324T>A (p.Leu775Ter) | |
13 | g.108208958A>C | CA388613547 | LIG4 | c.2110T>G (p.Leu704Val) c.2311T>G (p.Leu771Val) c.2347T>G (p.Leu783Val) c.2323T>G (p.Leu775Val) | |
13 | g.108208958A>G | CA484975436 | LIG4 | c.2110T>C (p.Leu704=) c.2311T>C (p.Leu771=) c.2347T>C (p.Leu783=) c.2323T>C (p.Leu775=) | |
13 | g.108208958A>T | CA388613548 | LIG4 | c.2110T>A (p.Leu704Met) c.2311T>A (p.Leu771Met) c.2347T>A (p.Leu783Met) c.2323T>A (p.Leu775Met) | |
13 | g.108208959G>A | CA7043526 | LIG4 | c.2109C>T (p.Asp703=) c.2310C>T (p.Asp770=) c.2346C>T (p.Asp782=) c.2322C>T (p.Asp774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208959G>C | CA388613549 | LIG4 | c.2109C>G (p.Asp703Glu) c.2310C>G (p.Asp770Glu) c.2346C>G (p.Asp782Glu) c.2322C>G (p.Asp774Glu) | |
13 | g.108208959G= | CA2117793991 | LIG4 | c.2109C= (p.Asp703=) c.2310C= (p.Asp770=) c.2346C= (p.Asp782=) c.2322C= (p.Asp774=) | |
13 | g.108208959G>T | CA388613550 | LIG4 | c.2109C>A (p.Asp703Glu) c.2310C>A (p.Asp770Glu) c.2346C>A (p.Asp782Glu) c.2322C>A (p.Asp774Glu) | |
13 | g.108208960T>A | CA388613551 | LIG4 | c.2108A>T (p.Asp703Val) c.2309A>T (p.Asp770Val) c.2345A>T (p.Asp782Val) c.2321A>T (p.Asp774Val) | |
13 | g.108208960T>C | CA388613552 | LIG4 | c.2108A>G (p.Asp703Gly) c.2309A>G (p.Asp770Gly) c.2345A>G (p.Asp782Gly) c.2321A>G (p.Asp774Gly) | |
13 | g.108208960T>G | CA388613553 | LIG4 | c.2108A>C (p.Asp703Ala) c.2309A>C (p.Asp770Ala) c.2345A>C (p.Asp782Ala) c.2321A>C (p.Asp774Ala) | |
13 | g.108208961C>A | CA388613554 | LIG4 | c.2107G>T (p.Asp703Tyr) c.2308G>T (p.Asp770Tyr) c.2344G>T (p.Asp782Tyr) c.2320G>T (p.Asp774Tyr) | |
13 | g.108208961C>G | CA388613555 | LIG4 | c.2107G>C (p.Asp703His) c.2308G>C (p.Asp770His) c.2344G>C (p.Asp782His) c.2320G>C (p.Asp774His) | |
13 | g.108208961C>T | CA388613556 | LIG4 | c.2107G>A (p.Asp703Asn) c.2308G>A (p.Asp770Asn) c.2344G>A (p.Asp782Asn) c.2320G>A (p.Asp774Asn) | |
13 | g.108208962T>A | CA484975444 | LIG4 | c.2106A>T (p.Thr702=) c.2307A>T (p.Thr769=) c.2343A>T (p.Thr781=) c.2319A>T (p.Thr773=) | |
13 | g.108208962T>C | CA484975449 | LIG4 | c.2106A>G (p.Thr702=) c.2307A>G (p.Thr769=) c.2343A>G (p.Thr781=) c.2319A>G (p.Thr773=) | |
13 | g.108208962T>G | CA484975448 | LIG4 | c.2106A>C (p.Thr702=) c.2307A>C (p.Thr769=) c.2343A>C (p.Thr781=) c.2319A>C (p.Thr773=) | |
13 | g.108208963G>A | CA7043527 | LIG4 | c.2105C>T (p.Thr702Ile) c.2306C>T (p.Thr769Ile) c.2342C>T (p.Thr781Ile) c.2318C>T (p.Thr773Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208963G>C | CA388613557 | LIG4 | c.2105C>G (p.Thr702Arg) c.2306C>G (p.Thr769Arg) c.2342C>G (p.Thr781Arg) c.2318C>G (p.Thr773Arg) | |
13 | g.108208963G= | CA2117793992 | LIG4 | c.2105C= (p.Thr702=) c.2306C= (p.Thr769=) c.2342C= (p.Thr781=) c.2318C= (p.Thr773=) | |
13 | g.108208963G>T | CA388613558 | LIG4 | c.2105C>A (p.Thr702Lys) c.2306C>A (p.Thr769Lys) c.2342C>A (p.Thr781Lys) c.2318C>A (p.Thr773Lys) | gnomAD v4 |