Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108208804G>A | CA7043490 | LIG4 | c.2264C>T (p.Ser755Leu) c.2465C>T (p.Ser822Leu) c.2501C>T (p.Ser834Leu) c.2477C>T (p.Ser826Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208804G>C | CA388613002 | LIG4 | c.2264C>G (p.Ser755Trp) c.2465C>G (p.Ser822Trp) c.2501C>G (p.Ser834Trp) c.2477C>G (p.Ser826Trp) | ClinVar gnomAD v4 |
13 | g.108208804G= | CA2117793920 | LIG4 | c.2264C= (p.Ser755=) c.2465C= (p.Ser822=) c.2501C= (p.Ser834=) c.2477C= (p.Ser826=) | |
13 | g.108208804G>T | CA388613005 | LIG4 | c.2264C>A (p.Ser755Ter) c.2465C>A (p.Ser822Ter) c.2501C>A (p.Ser834Ter) c.2477C>A (p.Ser826Ter) | |
13 | g.108208805A>C | CA388613008 | LIG4 | c.2263T>G (p.Ser755Ala) c.2464T>G (p.Ser822Ala) c.2500T>G (p.Ser834Ala) c.2476T>G (p.Ser826Ala) | |
13 | g.108208805A>G | CA388613011 | LIG4 | c.2263T>C (p.Ser755Pro) c.2464T>C (p.Ser822Pro) c.2500T>C (p.Ser834Pro) c.2476T>C (p.Ser826Pro) | |
13 | g.108208805A>T | CA388613013 | LIG4 | c.2263T>A (p.Ser755Thr) c.2464T>A (p.Ser822Thr) c.2500T>A (p.Ser834Thr) c.2476T>A (p.Ser826Thr) | |
13 | g.108208806G>A | CA484975041 | LIG4 | c.2262C>T (p.Asp754=) c.2463C>T (p.Asp821=) c.2499C>T (p.Asp833=) c.2475C>T (p.Asp825=) | gnomAD v4 |
13 | g.108208806G>C | CA388613014 | LIG4 | c.2262C>G (p.Asp754Glu) c.2463C>G (p.Asp821Glu) c.2499C>G (p.Asp833Glu) c.2475C>G (p.Asp825Glu) | |
13 | g.108208806G>T | CA388613015 | LIG4 | c.2262C>A (p.Asp754Glu) c.2463C>A (p.Asp821Glu) c.2499C>A (p.Asp833Glu) c.2475C>A (p.Asp825Glu) | |
13 | g.108208807T>A | CA388613019 | LIG4 | c.2261A>T (p.Asp754Val) c.2462A>T (p.Asp821Val) c.2498A>T (p.Asp833Val) c.2474A>T (p.Asp825Val) | COSMIC |
13 | g.108208807T>C | CA388613023 | LIG4 | c.2261A>G (p.Asp754Gly) c.2462A>G (p.Asp821Gly) c.2498A>G (p.Asp833Gly) c.2474A>G (p.Asp825Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.108208807T>G | CA388613025 | LIG4 | c.2261A>C (p.Asp754Ala) c.2462A>C (p.Asp821Ala) c.2498A>C (p.Asp833Ala) c.2474A>C (p.Asp825Ala) | |
13 | g.108208807T= | CA2117793921 | LIG4 | c.2261A= (p.Asp754=) c.2462A= (p.Asp821=) c.2498A= (p.Asp833=) c.2474A= (p.Asp825=) | |
13 | g.108208808C>A | CA388613030 | LIG4 | c.2260G>T (p.Asp754Tyr) c.2461G>T (p.Asp821Tyr) c.2497G>T (p.Asp833Tyr) c.2473G>T (p.Asp825Tyr) | |
13 | g.108208808C>G | CA388613036 | LIG4 | c.2260G>C (p.Asp754His) c.2461G>C (p.Asp821His) c.2497G>C (p.Asp833His) c.2473G>C (p.Asp825His) | gnomAD v4 |
13 | g.108208808C>T | CA388613033 | LIG4 | c.2260G>A (p.Asp754Asn) c.2461G>A (p.Asp821Asn) c.2497G>A (p.Asp833Asn) c.2473G>A (p.Asp825Asn) | |
13 | g.108208809C>A | CA388613042 | LIG4 | c.2259G>T (p.Leu753Phe) c.2460G>T (p.Leu820Phe) c.2496G>T (p.Leu832Phe) c.2472G>T (p.Leu824Phe) | |
13 | g.108208809C= | CA2117793922 | LIG4 | c.2259G= (p.Leu753=) c.2460G= (p.Leu820=) c.2496G= (p.Leu832=) c.2472G= (p.Leu824=) | |
13 | g.108208809C>G | CA7043491 | LIG4 | c.2259G>C (p.Leu753Phe) c.2460G>C (p.Leu820Phe) c.2496G>C (p.Leu832Phe) c.2472G>C (p.Leu824Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208809C>T | CA484975043 | LIG4 | c.2259G>A (p.Leu753=) c.2460G>A (p.Leu820=) c.2496G>A (p.Leu832=) c.2472G>A (p.Leu824=) | |
13 | g.108208810A>C | CA388613045 | LIG4 | c.2258T>G (p.Leu753Trp) c.2459T>G (p.Leu820Trp) c.2495T>G (p.Leu832Trp) c.2471T>G (p.Leu824Trp) | |
13 | g.108208810A>G | CA388613048 | LIG4 | c.2258T>C (p.Leu753Ser) c.2459T>C (p.Leu820Ser) c.2495T>C (p.Leu832Ser) c.2471T>C (p.Leu824Ser) | |
13 | g.108208810A>T | CA388613051 | LIG4 | c.2258T>A (p.Leu753Ter) c.2459T>A (p.Leu820Ter) c.2495T>A (p.Leu832Ter) c.2471T>A (p.Leu824Ter) | |
13 | g.108208811A= | CA2117793923 | LIG4 | c.2257T= (p.Leu753=) c.2458T= (p.Leu820=) c.2494T= (p.Leu832=) c.2470T= (p.Leu824=) | |
13 | g.108208811A>C | CA388613054 | LIG4 | c.2257T>G (p.Leu753Val) c.2458T>G (p.Leu820Val) c.2494T>G (p.Leu832Val) c.2470T>G (p.Leu824Val) | |
13 | g.108208811A>G | CA484975049 | LIG4 | c.2257T>C (p.Leu753=) c.2458T>C (p.Leu820=) c.2494T>C (p.Leu832=) c.2470T>C (p.Leu824=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208811A>T | CA388613056 | LIG4 | c.2257T>A (p.Leu753Met) c.2458T>A (p.Leu820Met) c.2494T>A (p.Leu832Met) c.2470T>A (p.Leu824Met) | |
13 | g.108208812A>C | CA388613063 | LIG4 | c.2256T>G (p.Tyr752Ter) c.2457T>G (p.Tyr819Ter) c.2493T>G (p.Tyr831Ter) c.2469T>G (p.Tyr823Ter) | |
13 | g.108208812A>G | CA484975051 | LIG4 | c.2256T>C (p.Tyr752=) c.2457T>C (p.Tyr819=) c.2493T>C (p.Tyr831=) c.2469T>C (p.Tyr823=) | |
13 | g.108208812A>T | CA388613065 | LIG4 | c.2256T>A (p.Tyr752Ter) c.2457T>A (p.Tyr819Ter) c.2493T>A (p.Tyr831Ter) c.2469T>A (p.Tyr823Ter) | |
13 | g.108208813T>A | CA388613067 | LIG4 | c.2255A>T (p.Tyr752Phe) c.2456A>T (p.Tyr819Phe) c.2492A>T (p.Tyr831Phe) c.2468A>T (p.Tyr823Phe) | |
13 | g.108208813T>C | CA388613070 | LIG4 | c.2255A>G (p.Tyr752Cys) c.2456A>G (p.Tyr819Cys) c.2492A>G (p.Tyr831Cys) c.2468A>G (p.Tyr823Cys) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208813T>G | CA388613073 | LIG4 | c.2255A>C (p.Tyr752Ser) c.2456A>C (p.Tyr819Ser) c.2492A>C (p.Tyr831Ser) c.2468A>C (p.Tyr823Ser) | |
13 | g.108208813T= | CA2117793924 | LIG4 | c.2255A= (p.Tyr752=) c.2456A= (p.Tyr819=) c.2492A= (p.Tyr831=) c.2468A= (p.Tyr823=) | |
13 | g.108208814A>C | CA388613075 | LIG4 | c.2254T>G (p.Tyr752Asp) c.2455T>G (p.Tyr819Asp) c.2491T>G (p.Tyr831Asp) c.2467T>G (p.Tyr823Asp) | |
13 | g.108208814A>G | CA388613078 | LIG4 | c.2254T>C (p.Tyr752His) c.2455T>C (p.Tyr819His) c.2491T>C (p.Tyr831His) c.2467T>C (p.Tyr823His) | |
13 | g.108208814A>T | CA388613079 | LIG4 | c.2254T>A (p.Tyr752Asn) c.2455T>A (p.Tyr819Asn) c.2491T>A (p.Tyr831Asn) c.2467T>A (p.Tyr823Asn) | |
13 | g.108208815_108208816dup | CA2575452311 | LIG4 | c.2253_2254dup (p.Tyr752PhefsTer12) c.2454_2455dup (p.Tyr819PhefsTer12) c.2490_2491dup (p.Tyr831PhefsTer12) c.2466_2467dup (p.Tyr823PhefsTer12) | |
13 | g.108208815A>C | CA484975057 | LIG4 | c.2253T>G (p.Val751=) c.2454T>G (p.Val818=) c.2490T>G (p.Val830=) c.2466T>G (p.Val822=) | |
13 | g.108208815A>G | CA484975060 | LIG4 | c.2253T>C (p.Val751=) c.2454T>C (p.Val818=) c.2490T>C (p.Val830=) c.2466T>C (p.Val822=) | |
13 | g.108208815A>T | CA484975061 | LIG4 | c.2253T>A (p.Val751=) c.2454T>A (p.Val818=) c.2490T>A (p.Val830=) c.2466T>A (p.Val822=) | |
13 | g.108208816A>C | CA388613080 | LIG4 | c.2252T>G (p.Val751Gly) c.2453T>G (p.Val818Gly) c.2489T>G (p.Val830Gly) c.2465T>G (p.Val822Gly) | |
13 | g.108208816A>G | CA388613082 | LIG4 | c.2252T>C (p.Val751Ala) c.2453T>C (p.Val818Ala) c.2489T>C (p.Val830Ala) c.2465T>C (p.Val822Ala) | |
13 | g.108208816A>T | CA388613081 | LIG4 | c.2252T>A (p.Val751Asp) c.2453T>A (p.Val818Asp) c.2489T>A (p.Val830Asp) c.2465T>A (p.Val822Asp) | |
13 | g.108208817C>A | CA388613084 | LIG4 | c.2251G>T (p.Val751Phe) c.2452G>T (p.Val818Phe) c.2488G>T (p.Val830Phe) c.2464G>T (p.Val822Phe) | |
13 | g.108208817C= | CA2117793925 | LIG4 | c.2251G= (p.Val751=) c.2452G= (p.Val818=) c.2488G= (p.Val830=) c.2464G= (p.Val822=) | |
13 | g.108208817C>G | CA388613087 | LIG4 | c.2251G>C (p.Val751Leu) c.2452G>C (p.Val818Leu) c.2488G>C (p.Val830Leu) c.2464G>C (p.Val822Leu) | |
13 | g.108208817C>T | CA7043492 | LIG4 | c.2251G>A (p.Val751Ile) c.2452G>A (p.Val818Ile) c.2488G>A (p.Val830Ile) c.2464G>A (p.Val822Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208818G>A | CA7043493 | LIG4 | c.2250C>T (p.Thr750=) c.2451C>T (p.Thr817=) c.2487C>T (p.Thr829=) c.2463C>T (p.Thr821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208818G>C | CA484975063 | LIG4 | c.2250C>G (p.Thr750=) c.2451C>G (p.Thr817=) c.2487C>G (p.Thr829=) c.2463C>G (p.Thr821=) | |
13 | g.108208818G= | CA2117793926 | LIG4 | c.2250C= (p.Thr750=) c.2451C= (p.Thr817=) c.2487C= (p.Thr829=) c.2463C= (p.Thr821=) | |
13 | g.108208818G>T | CA484975064 | LIG4 | c.2250C>A (p.Thr750=) c.2451C>A (p.Thr817=) c.2487C>A (p.Thr829=) c.2463C>A (p.Thr821=) | gnomAD v4 |
13 | g.108208819G>A | CA388613093 | LIG4 | c.2249C>T (p.Thr750Ile) c.2450C>T (p.Thr817Ile) c.2486C>T (p.Thr829Ile) c.2462C>T (p.Thr821Ile) | COSMIC |
13 | g.108208819G>C | CA388613096 | LIG4 | c.2249C>G (p.Thr750Ser) c.2450C>G (p.Thr817Ser) c.2486C>G (p.Thr829Ser) c.2462C>G (p.Thr821Ser) | |
13 | g.108208819G>T | CA388613100 | LIG4 | c.2249C>A (p.Thr750Asn) c.2450C>A (p.Thr817Asn) c.2486C>A (p.Thr829Asn) c.2462C>A (p.Thr821Asn) | gnomAD v4 |
13 | g.108208819_108208820delinsGT | CA2117793927 | LIG4 | c.2248_2249delinsAC (p.Thr750=) c.2449_2450delinsAC (p.Thr817=) c.2485_2486delinsAC (p.Thr829=) c.2461_2462delinsAC (p.Thr821=) | |
13 | g.108208822_108208823del | CA2539358168 | LIG4 | c.2248_2249del (p.Thr750ArgfsTer10) c.2449_2450del (p.Thr817ArgfsTer10) c.2485_2486del (p.Thr829ArgfsTer10) c.2461_2462del (p.Thr821ArgfsTer10) | |
13 | g.108208820del | CA694833143 | LIG4 | c.2248del (p.Thr750ProfsTer13) c.2449del (p.Thr817ProfsTer13) c.2485del (p.Thr829ProfsTer13) c.2461del (p.Thr821ProfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208820T>A | CA388613103 | LIG4 | c.2248A>T (p.Thr750Ser) c.2449A>T (p.Thr817Ser) c.2485A>T (p.Thr829Ser) c.2461A>T (p.Thr821Ser) | |
13 | g.108208820T>C | CA7043494 | LIG4 | c.2248A>G (p.Thr750Ala) c.2449A>G (p.Thr817Ala) c.2485A>G (p.Thr829Ala) c.2461A>G (p.Thr821Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208820T>G | CA7043495 | LIG4 | c.2248A>C (p.Thr750Pro) c.2449A>C (p.Thr817Pro) c.2485A>C (p.Thr829Pro) c.2461A>C (p.Thr821Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108208820T= | CA2117793928 | LIG4 | c.2248A= (p.Thr750=) c.2449A= (p.Thr817=) c.2485A= (p.Thr829=) c.2461A= (p.Thr821=) | |
13 | g.108208821G>A | CA7043496 | LIG4 | c.2247C>T (p.His749=) c.2448C>T (p.His816=) c.2484C>T (p.His828=) c.2460C>T (p.His820=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208821G>C | CA388613112 | LIG4 | c.2247C>G (p.His749Gln) c.2448C>G (p.His816Gln) c.2484C>G (p.His828Gln) c.2460C>G (p.His820Gln) | COSMIC |
13 | g.108208821G= | CA2117793929 | LIG4 | c.2247C= (p.His749=) c.2448C= (p.His816=) c.2484C= (p.His828=) c.2460C= (p.His820=) | |
13 | g.108208821G>T | CA388613107 | LIG4 | c.2247C>A (p.His749Gln) c.2448C>A (p.His816Gln) c.2484C>A (p.His828Gln) c.2460C>A (p.His820Gln) | |
13 | g.108208822T>A | CA388613115 | LIG4 | c.2246A>T (p.His749Leu) c.2447A>T (p.His816Leu) c.2483A>T (p.His828Leu) c.2459A>T (p.His820Leu) | |
13 | g.108208822T>C | CA388613118 | LIG4 | c.2246A>G (p.His749Arg) c.2447A>G (p.His816Arg) c.2483A>G (p.His828Arg) c.2459A>G (p.His820Arg) | COSMIC |
13 | g.108208822T>G | CA388613120 | LIG4 | c.2246A>C (p.His749Pro) c.2447A>C (p.His816Pro) c.2483A>C (p.His828Pro) c.2459A>C (p.His820Pro) | |
13 | g.108208823G>A | CA388613122 | LIG4 | c.2245C>T (p.His749Tyr) c.2446C>T (p.His816Tyr) c.2482C>T (p.His828Tyr) c.2458C>T (p.His820Tyr) | |
13 | g.108208823G>C | CA388613123 | LIG4 | c.2245C>G (p.His749Asp) c.2446C>G (p.His816Asp) c.2482C>G (p.His828Asp) c.2458C>G (p.His820Asp) | |
13 | g.108208823G>T | CA388613124 | LIG4 | c.2245C>A (p.His749Asn) c.2446C>A (p.His816Asn) c.2482C>A (p.His828Asn) c.2458C>A (p.His820Asn) | |
13 | g.108208824G>A | CA484975073 | LIG4 | c.2244C>T (p.Arg748=) c.2445C>T (p.Arg815=) c.2481C>T (p.Arg827=) c.2457C>T (p.Arg819=) | |
13 | g.108208824G>C | CA484975071 | LIG4 | c.2244C>G (p.Arg748=) c.2445C>G (p.Arg815=) c.2481C>G (p.Arg827=) c.2457C>G (p.Arg819=) | |
13 | g.108208824G= | CA2117793930 | LIG4 | c.2244C= (p.Arg748=) c.2445C= (p.Arg815=) c.2481C= (p.Arg827=) c.2457C= (p.Arg819=) | |
13 | g.108208824G>T | CA256179228 | LIG4 | c.2244C>A (p.Arg748=) c.2445C>A (p.Arg815=) c.2481C>A (p.Arg827=) c.2457C>A (p.Arg819=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108208825C>A | CA7043498 | LIG4 | c.2243G>T (p.Arg748Leu) c.2444G>T (p.Arg815Leu) c.2480G>T (p.Arg827Leu) c.2456G>T (p.Arg819Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108208825C= | CA2117793931 | LIG4 | c.2243G= (p.Arg748=) c.2444G= (p.Arg815=) c.2480G= (p.Arg827=) c.2456G= (p.Arg819=) | |
13 | g.108208825C>G | CA388613127 | LIG4 | c.2243G>C (p.Arg748Pro) c.2444G>C (p.Arg815Pro) c.2480G>C (p.Arg827Pro) c.2456G>C (p.Arg819Pro) | |
13 | g.108208825C>T | CA7043497 | LIG4 | c.2243G>A (p.Arg748His) c.2444G>A (p.Arg815His) c.2480G>A (p.Arg827His) c.2456G>A (p.Arg819His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208826G>A | CA7043499 | LIG4 | c.2242C>T (p.Arg748Cys) c.2443C>T (p.Arg815Cys) c.2479C>T (p.Arg827Cys) c.2455C>T (p.Arg819Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108208826G>C | CA388613130 | LIG4 | c.2242C>G (p.Arg748Gly) c.2443C>G (p.Arg815Gly) c.2479C>G (p.Arg827Gly) c.2455C>G (p.Arg819Gly) | |
13 | g.108208826G= | CA2117793932 | LIG4 | c.2242C= (p.Arg748=) c.2443C= (p.Arg815=) c.2479C= (p.Arg827=) c.2455C= (p.Arg819=) | |
13 | g.108208826G>T | CA388613132 | LIG4 | c.2242C>A (p.Arg748Ser) c.2443C>A (p.Arg815Ser) c.2479C>A (p.Arg827Ser) c.2455C>A (p.Arg819Ser) | |
13 | g.108208827T>A | CA484975075 | LIG4 | c.2241A>T (p.Arg747=) c.2442A>T (p.Arg814=) c.2478A>T (p.Arg826=) c.2454A>T (p.Arg818=) | COSMIC |
13 | g.108208827T>C | CA484975076 | LIG4 | c.2241A>G (p.Arg747=) c.2442A>G (p.Arg814=) c.2478A>G (p.Arg826=) c.2454A>G (p.Arg818=) | |
13 | g.108208827T>G | CA484975077 | LIG4 | c.2241A>C (p.Arg747=) c.2442A>C (p.Arg814=) c.2478A>C (p.Arg826=) c.2454A>C (p.Arg818=) | |
13 | g.108208828C>A | CA388613137 | LIG4 | c.2240G>T (p.Arg747Leu) c.2441G>T (p.Arg814Leu) c.2477G>T (p.Arg826Leu) c.2453G>T (p.Arg818Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.108208828C= | CA2117793933 | LIG4 | c.2240G= (p.Arg747=) c.2441G= (p.Arg814=) c.2477G= (p.Arg826=) c.2453G= (p.Arg818=) | |
13 | g.108208828C>G | CA388613136 | LIG4 | c.2240G>C (p.Arg747Pro) c.2441G>C (p.Arg814Pro) c.2477G>C (p.Arg826Pro) c.2453G>C (p.Arg818Pro) | |
13 | g.108208828C>T | CA388613134 | LIG4 | c.2240G>A (p.Arg747Gln) c.2441G>A (p.Arg814Gln) c.2477G>A (p.Arg826Gln) c.2453G>A (p.Arg818Gln) | dbSNP gnomAD v3 gnomAD v4 |
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=) | ClinVar 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=) | ClinVar 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) | 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=) | |
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 |
13 | g.108208862A>T | CA388613264 | LIG4 | c.2206T>A (p.Tyr736Asn) c.2407T>A (p.Tyr803Asn) c.2443T>A (p.Tyr815Asn) c.2419T>A (p.Tyr807Asn) | |
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) |