Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108208775T>ACA388612863LIG4c.2293A>T (p.Lys765Ter)
c.2494A>T (p.Lys832Ter)
c.2530A>T (p.Lys844Ter)
c.2506A>T (p.Lys836Ter)
13g.108208775T>CCA388612866LIG4c.2293A>G (p.Lys765Glu)
c.2494A>G (p.Lys832Glu)
c.2530A>G (p.Lys844Glu)
c.2506A>G (p.Lys836Glu)
 dbSNP gnomAD v3 gnomAD v4
13g.108208775T>GCA388612865LIG4c.2293A>C (p.Lys765Gln)
c.2494A>C (p.Lys832Gln)
c.2530A>C (p.Lys844Gln)
c.2506A>C (p.Lys836Gln)
13g.108208775T=CA2117793902LIG4c.2293A= (p.Lys765=)
c.2494A= (p.Lys832=)
c.2530A= (p.Lys844=)
c.2506A= (p.Lys836=)
13g.108208776G>ACA484975001LIG4c.2292C>T (p.Thr764=)
c.2493C>T (p.Thr831=)
c.2529C>T (p.Thr843=)
c.2505C>T (p.Thr835=)
13g.108208776G>CCA484975002LIG4c.2292C>G (p.Thr764=)
c.2493C>G (p.Thr831=)
c.2529C>G (p.Thr843=)
c.2505C>G (p.Thr835=)
13g.108208776G>TCA484975003LIG4c.2292C>A (p.Thr764=)
c.2493C>A (p.Thr831=)
c.2529C>A (p.Thr843=)
c.2505C>A (p.Thr835=)
13g.108208777G>ACA256179093LIG4c.2291C>T (p.Thr764Ile)
c.2492C>T (p.Thr831Ile)
c.2528C>T (p.Thr843Ile)
c.2504C>T (p.Thr835Ile)
 dbSNP gnomAD v4
13g.108208777G>CCA388612867LIG4c.2291C>G (p.Thr764Ser)
c.2492C>G (p.Thr831Ser)
c.2528C>G (p.Thr843Ser)
c.2504C>G (p.Thr835Ser)
13g.108208777G=CA2117793903LIG4c.2291C= (p.Thr764=)
c.2492C= (p.Thr831=)
c.2528C= (p.Thr843=)
c.2504C= (p.Thr835=)
13g.108208777G>TCA388612868LIG4c.2291C>A (p.Thr764Asn)
c.2492C>A (p.Thr831Asn)
c.2528C>A (p.Thr843Asn)
c.2504C>A (p.Thr835Asn)
 ClinVar dbSNP
13g.108208778T>ACA388612870LIG4c.2290A>T (p.Thr764Ser)
c.2491A>T (p.Thr831Ser)
c.2527A>T (p.Thr843Ser)
c.2503A>T (p.Thr835Ser)
13g.108208778T>CCA388612872LIG4c.2290A>G (p.Thr764Ala)
c.2491A>G (p.Thr831Ala)
c.2527A>G (p.Thr843Ala)
c.2503A>G (p.Thr835Ala)
13g.108208778T>GCA388612875LIG4c.2290A>C (p.Thr764Pro)
c.2491A>C (p.Thr831Pro)
c.2527A>C (p.Thr843Pro)
c.2503A>C (p.Thr835Pro)
13g.108208779A>CCA388612877LIG4c.2289T>G (p.Ser763Arg)
c.2490T>G (p.Ser830Arg)
c.2526T>G (p.Ser842Arg)
c.2502T>G (p.Ser834Arg)
13g.108208779A>GCA484975006LIG4c.2289T>C (p.Ser763=)
c.2490T>C (p.Ser830=)
c.2526T>C (p.Ser842=)
c.2502T>C (p.Ser834=)
13g.108208779A>TCA388612878LIG4c.2289T>A (p.Ser763Arg)
c.2490T>A (p.Ser830Arg)
c.2526T>A (p.Ser842Arg)
c.2502T>A (p.Ser834Arg)
13g.108208780C>ACA388612880LIG4c.2288G>T (p.Ser763Ile)
c.2489G>T (p.Ser830Ile)
c.2525G>T (p.Ser842Ile)
c.2501G>T (p.Ser834Ile)
 dbSNP gnomAD v4
13g.108208780C=CA2117793904LIG4c.2288G= (p.Ser763=)
c.2489G= (p.Ser830=)
c.2525G= (p.Ser842=)
c.2501G= (p.Ser834=)
13g.108208780C>GCA388612883LIG4c.2288G>C (p.Ser763Thr)
c.2489G>C (p.Ser830Thr)
c.2525G>C (p.Ser842Thr)
c.2501G>C (p.Ser834Thr)
13g.108208780C>TCA388612885LIG4c.2288G>A (p.Ser763Asn)
c.2489G>A (p.Ser830Asn)
c.2525G>A (p.Ser842Asn)
c.2501G>A (p.Ser834Asn)
13g.108208781T>ACA388612889LIG4c.2287A>T (p.Ser763Cys)
c.2488A>T (p.Ser830Cys)
c.2524A>T (p.Ser842Cys)
c.2500A>T (p.Ser834Cys)
13g.108208781T>CCA388612887LIG4c.2287A>G (p.Ser763Gly)
c.2488A>G (p.Ser830Gly)
c.2524A>G (p.Ser842Gly)
c.2500A>G (p.Ser834Gly)
13g.108208781T>GCA388612886LIG4c.2287A>C (p.Ser763Arg)
c.2488A>C (p.Ser830Arg)
c.2524A>C (p.Ser842Arg)
c.2500A>C (p.Ser834Arg)
13g.108208782C>ACA484975007LIG4c.2286G>T (p.Leu762=)
c.2487G>T (p.Leu829=)
c.2523G>T (p.Leu841=)
c.2499G>T (p.Leu833=)
13g.108208782C>GCA484975009LIG4c.2286G>C (p.Leu762=)
c.2487G>C (p.Leu829=)
c.2523G>C (p.Leu841=)
c.2499G>C (p.Leu833=)
13g.108208782C>TCA484975008LIG4c.2286G>A (p.Leu762=)
c.2487G>A (p.Leu829=)
c.2523G>A (p.Leu841=)
c.2499G>A (p.Leu833=)
 gnomAD v4
13g.108208783A=CA2117793905LIG4c.2285T= (p.Leu762=)
c.2486T= (p.Leu829=)
c.2522T= (p.Leu841=)
c.2498T= (p.Leu833=)
13g.108208783A>CCA7043481LIG4c.2285T>G (p.Leu762Arg)
c.2486T>G (p.Leu829Arg)
c.2522T>G (p.Leu841Arg)
c.2498T>G (p.Leu833Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208783A>GCA7043482LIG4c.2285T>C (p.Leu762Pro)
c.2486T>C (p.Leu829Pro)
c.2522T>C (p.Leu841Pro)
c.2498T>C (p.Leu833Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208783A>TCA388612896LIG4c.2285T>A (p.Leu762Gln)
c.2486T>A (p.Leu829Gln)
c.2522T>A (p.Leu841Gln)
c.2498T>A (p.Leu833Gln)
 dbSNP gnomAD v3 gnomAD v4
13g.108208784G>ACA7043483LIG4c.2284C>T (p.Leu762=)
c.2485C>T (p.Leu829=)
c.2521C>T (p.Leu841=)
c.2497C>T (p.Leu833=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.108208784G>CCA388612901LIG4c.2284C>G (p.Leu762Val)
c.2485C>G (p.Leu829Val)
c.2521C>G (p.Leu841Val)
c.2497C>G (p.Leu833Val)
13g.108208784G=CA2117793906LIG4c.2284C= (p.Leu762=)
c.2485C= (p.Leu829=)
c.2521C= (p.Leu841=)
c.2497C= (p.Leu833=)
13g.108208784G>TCA388612902LIG4c.2284C>A (p.Leu762Met)
c.2485C>A (p.Leu829Met)
c.2521C>A (p.Leu841Met)
c.2497C>A (p.Leu833Met)
13g.108208785G>ACA484975010LIG4c.2283C>T (p.Asp761=)
c.2484C>T (p.Asp828=)
c.2520C>T (p.Asp840=)
c.2496C>T (p.Asp832=)
 dbSNP gnomAD v4
13g.108208785G>CCA388612907LIG4c.2283C>G (p.Asp761Glu)
c.2484C>G (p.Asp828Glu)
c.2520C>G (p.Asp840Glu)
c.2496C>G (p.Asp832Glu)
13g.108208785G=CA2117793907LIG4c.2283C= (p.Asp761=)
c.2484C= (p.Asp828=)
c.2520C= (p.Asp840=)
c.2496C= (p.Asp832=)
13g.108208785G>TCA388612904LIG4c.2283C>A (p.Asp761Glu)
c.2484C>A (p.Asp828Glu)
c.2520C>A (p.Asp840Glu)
c.2496C>A (p.Asp832Glu)
13g.108208786T>ACA388612910LIG4c.2282A>T (p.Asp761Val)
c.2483A>T (p.Asp828Val)
c.2519A>T (p.Asp840Val)
c.2495A>T (p.Asp832Val)
13g.108208786T>CCA388612912LIG4c.2282A>G (p.Asp761Gly)
c.2483A>G (p.Asp828Gly)
c.2519A>G (p.Asp840Gly)
c.2495A>G (p.Asp832Gly)
 dbSNP
13g.108208786T>GCA388612913LIG4c.2282A>C (p.Asp761Ala)
c.2483A>C (p.Asp828Ala)
c.2519A>C (p.Asp840Ala)
c.2495A>C (p.Asp832Ala)
13g.108208786T=CA2117793908LIG4c.2282A= (p.Asp761=)
c.2483A= (p.Asp828=)
c.2519A= (p.Asp840=)
c.2495A= (p.Asp832=)
13g.108208787C>ACA7043484LIG4c.2281G>T (p.Asp761Tyr)
c.2482G>T (p.Asp828Tyr)
c.2518G>T (p.Asp840Tyr)
c.2494G>T (p.Asp832Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208787C=CA2117793910LIG4c.2281G= (p.Asp761=)
c.2482G= (p.Asp828=)
c.2518G= (p.Asp840=)
c.2494G= (p.Asp832=)
13g.108208787C>GCA388612918LIG4c.2281G>C (p.Asp761His)
c.2482G>C (p.Asp828His)
c.2518G>C (p.Asp840His)
c.2494G>C (p.Asp832His)
13g.108208787C>TCA388612921LIG4c.2281G>A (p.Asp761Asn)
c.2482G>A (p.Asp828Asn)
c.2518G>A (p.Asp840Asn)
c.2494G>A (p.Asp832Asn)
 ClinVar
13g.108208787_108208790delinsCATTCA2117793909LIG4c.2278_2281delinsAATG (p.Asn760=)
c.2479_2482delinsAATG (p.Asn827=)
c.2515_2518delinsAATG (p.Asn839=)
c.2491_2494delinsAATG (p.Asn831=)
13g.108208788A>CCA388612929LIG4c.2280T>G (p.Asn760Lys)
c.2481T>G (p.Asn827Lys)
c.2517T>G (p.Asn839Lys)
c.2493T>G (p.Asn831Lys)
13g.108208788A>GCA484975012LIG4c.2280T>C (p.Asn760=)
c.2481T>C (p.Asn827=)
c.2517T>C (p.Asn839=)
c.2493T>C (p.Asn831=)
13g.108208788A>TCA388612927LIG4c.2280T>A (p.Asn760Lys)
c.2481T>A (p.Asn827Lys)
c.2517T>A (p.Asn839Lys)
c.2493T>A (p.Asn831Lys)
13g.108208789_108208791delCA7043485LIG4c.2278_2280del (p.Asn760del)
c.2479_2481del (p.Asn827del)
c.2515_2517del (p.Asn839del)
c.2491_2493del (p.Asn831del)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208789T>ACA388612932LIG4c.2279A>T (p.Asn760Ile)
c.2480A>T (p.Asn827Ile)
c.2516A>T (p.Asn839Ile)
c.2492A>T (p.Asn831Ile)
13g.108208789T>CCA388612934LIG4c.2279A>G (p.Asn760Ser)
c.2480A>G (p.Asn827Ser)
c.2516A>G (p.Asn839Ser)
c.2492A>G (p.Asn831Ser)
 ClinVar dbSNP
13g.108208789T>GCA388612937LIG4c.2279A>C (p.Asn760Thr)
c.2480A>C (p.Asn827Thr)
c.2516A>C (p.Asn839Thr)
c.2492A>C (p.Asn831Thr)
13g.108208789T=CA2117793911LIG4c.2279A= (p.Asn760=)
c.2480A= (p.Asn827=)
c.2516A= (p.Asn839=)
c.2492A= (p.Asn831=)
13g.108208790T>ACA388612938LIG4c.2278A>T (p.Asn760Tyr)
c.2479A>T (p.Asn827Tyr)
c.2515A>T (p.Asn839Tyr)
c.2491A>T (p.Asn831Tyr)
13g.108208790T>CCA388612940LIG4c.2278A>G (p.Asn760Asp)
c.2479A>G (p.Asn827Asp)
c.2515A>G (p.Asn839Asp)
c.2491A>G (p.Asn831Asp)
 dbSNP
13g.108208790T>GCA388612941LIG4c.2278A>C (p.Asn760His)
c.2479A>C (p.Asn827His)
c.2515A>C (p.Asn839His)
c.2491A>C (p.Asn831His)
13g.108208790T=CA2117793912LIG4c.2278A= (p.Asn760=)
c.2479A= (p.Asn827=)
c.2515A= (p.Asn839=)
c.2491A= (p.Asn831=)
13g.108208793_108208795delCA2575452310LIG4c.2276_2278del (p.Ile759del)
c.2477_2479del (p.Ile826del)
c.2513_2515del (p.Ile838del)
c.2489_2491del (p.Ile830del)
 gnomAD v4
13g.108208791A=CA2117793913LIG4c.2277T= (p.Ile759=)
c.2478T= (p.Ile826=)
c.2514T= (p.Ile838=)
c.2490T= (p.Ile830=)
13g.108208791A>CCA388612942LIG4c.2277T>G (p.Ile759Met)
c.2478T>G (p.Ile826Met)
c.2514T>G (p.Ile838Met)
c.2490T>G (p.Ile830Met)
 dbSNP gnomAD v2 gnomAD v4
13g.108208791A>GCA484975015LIG4c.2277T>C (p.Ile759=)
c.2478T>C (p.Ile826=)
c.2514T>C (p.Ile838=)
c.2490T>C (p.Ile830=)
 gnomAD v4
13g.108208791A>TCA484975016LIG4c.2277T>A (p.Ile759=)
c.2478T>A (p.Ile826=)
c.2514T>A (p.Ile838=)
c.2490T>A (p.Ile830=)
 gnomAD v4
13g.108208792A>CCA388612943LIG4c.2276T>G (p.Ile759Ser)
c.2477T>G (p.Ile826Ser)
c.2513T>G (p.Ile838Ser)
c.2489T>G (p.Ile830Ser)
 gnomAD v4
13g.108208792A>GCA388612945LIG4c.2276T>C (p.Ile759Thr)
c.2477T>C (p.Ile826Thr)
c.2513T>C (p.Ile838Thr)
c.2489T>C (p.Ile830Thr)
 gnomAD v4
13g.108208792A>TCA388612947LIG4c.2276T>A (p.Ile759Asn)
c.2477T>A (p.Ile826Asn)
c.2513T>A (p.Ile838Asn)
c.2489T>A (p.Ile830Asn)
13g.108208793T>ACA388612949LIG4c.2275A>T (p.Ile759Phe)
c.2476A>T (p.Ile826Phe)
c.2512A>T (p.Ile838Phe)
c.2488A>T (p.Ile830Phe)
13g.108208793T>CCA388612951LIG4c.2275A>G (p.Ile759Val)
c.2476A>G (p.Ile826Val)
c.2512A>G (p.Ile838Val)
c.2488A>G (p.Ile830Val)
13g.108208793T>GCA388612953LIG4c.2275A>C (p.Ile759Leu)
c.2476A>C (p.Ile826Leu)
c.2512A>C (p.Ile838Leu)
c.2488A>C (p.Ile830Leu)
13g.108208794A>CCA484975018LIG4c.2274T>G (p.Val758=)
c.2475T>G (p.Val825=)
c.2511T>G (p.Val837=)
c.2487T>G (p.Val829=)
13g.108208794A>GCA484975019LIG4c.2274T>C (p.Val758=)
c.2475T>C (p.Val825=)
c.2511T>C (p.Val837=)
c.2487T>C (p.Val829=)
13g.108208794A>TCA484975020LIG4c.2274T>A (p.Val758=)
c.2475T>A (p.Val825=)
c.2511T>A (p.Val837=)
c.2487T>A (p.Val829=)
 gnomAD v4
13g.108208795A>CCA388612961LIG4c.2273T>G (p.Val758Gly)
c.2474T>G (p.Val825Gly)
c.2510T>G (p.Val837Gly)
c.2486T>G (p.Val829Gly)
13g.108208795A>GCA388612957LIG4c.2273T>C (p.Val758Ala)
c.2474T>C (p.Val825Ala)
c.2510T>C (p.Val837Ala)
c.2486T>C (p.Val829Ala)
13g.108208795A>TCA388612958LIG4c.2273T>A (p.Val758Asp)
c.2474T>A (p.Val825Asp)
c.2510T>A (p.Val837Asp)
c.2486T>A (p.Val829Asp)
 gnomAD v4
13g.108208796C>ACA388612965LIG4c.2272G>T (p.Val758Phe)
c.2473G>T (p.Val825Phe)
c.2509G>T (p.Val837Phe)
c.2485G>T (p.Val829Phe)
13g.108208796C=CA2117793914LIG4c.2272G= (p.Val758=)
c.2473G= (p.Val825=)
c.2509G= (p.Val837=)
c.2485G= (p.Val829=)
13g.108208796C>GCA388612968LIG4c.2272G>C (p.Val758Leu)
c.2473G>C (p.Val825Leu)
c.2509G>C (p.Val837Leu)
c.2485G>C (p.Val829Leu)
13g.108208796C>TCA388612971LIG4c.2272G>A (p.Val758Ile)
c.2473G>A (p.Val825Ile)
c.2509G>A (p.Val837Ile)
c.2485G>A (p.Val829Ile)
 gnomAD v4
13g.108208797A>CCA484975023LIG4c.2271T>G (p.Ala757=)
c.2472T>G (p.Ala824=)
c.2508T>G (p.Ala836=)
c.2484T>G (p.Ala828=)
13g.108208797A>GCA484975025LIG4c.2271T>C (p.Ala757=)
c.2472T>C (p.Ala824=)
c.2508T>C (p.Ala836=)
c.2484T>C (p.Ala828=)
13g.108208797A>TCA484975027LIG4c.2271T>A (p.Ala757=)
c.2472T>A (p.Ala824=)
c.2508T>A (p.Ala836=)
c.2484T>A (p.Ala828=)
13g.108208798_108208802dupCA960044907LIG4c.2267_2271dup (p.Val758MetfsTer7)
c.2468_2472dup (p.Val825MetfsTer7)
c.2504_2508dup (p.Val837MetfsTer7)
c.2480_2484dup (p.Val829MetfsTer7)
 dbSNP gnomAD v3 gnomAD v4
13g.108208798G>ACA388612972LIG4c.2270C>T (p.Ala757Val)
c.2471C>T (p.Ala824Val)
c.2507C>T (p.Ala836Val)
c.2483C>T (p.Ala828Val)
 dbSNP gnomAD v2 gnomAD v4
13g.108208798G>CCA388612975LIG4c.2270C>G (p.Ala757Gly)
c.2471C>G (p.Ala824Gly)
c.2507C>G (p.Ala836Gly)
c.2483C>G (p.Ala828Gly)
13g.108208798G=CA2117793915LIG4c.2270C= (p.Ala757=)
c.2471C= (p.Ala824=)
c.2507C= (p.Ala836=)
c.2483C= (p.Ala828=)
13g.108208798G>TCA388612977LIG4c.2270C>A (p.Ala757Asp)
c.2471C>A (p.Ala824Asp)
c.2507C>A (p.Ala836Asp)
c.2483C>A (p.Ala828Asp)
13g.108208799C>ACA256179151LIG4c.2269G>T (p.Ala757Ser)
c.2470G>T (p.Ala824Ser)
c.2506G>T (p.Ala836Ser)
c.2482G>T (p.Ala828Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108208799C=CA2117793916LIG4c.2269G= (p.Ala757=)
c.2470G= (p.Ala824=)
c.2506G= (p.Ala836=)
c.2482G= (p.Ala828=)
13g.108208799C>GCA388612979LIG4c.2269G>C (p.Ala757Pro)
c.2470G>C (p.Ala824Pro)
c.2506G>C (p.Ala836Pro)
c.2482G>C (p.Ala828Pro)
13g.108208799C>TCA388612981LIG4c.2269G>A (p.Ala757Thr)
c.2470G>A (p.Ala824Thr)
c.2506G>A (p.Ala836Thr)
c.2482G>A (p.Ala828Thr)
 gnomAD v4
13g.108208800A>CCA388612986LIG4c.2268T>G (p.Tyr756Ter)
c.2469T>G (p.Tyr823Ter)
c.2505T>G (p.Tyr835Ter)
c.2481T>G (p.Tyr827Ter)
13g.108208800A>GCA484975032LIG4c.2268T>C (p.Tyr756=)
c.2469T>C (p.Tyr823=)
c.2505T>C (p.Tyr835=)
c.2481T>C (p.Tyr827=)
 gnomAD v4
13g.108208800A>TCA388612987LIG4c.2268T>A (p.Tyr756Ter)
c.2469T>A (p.Tyr823Ter)
c.2505T>A (p.Tyr835Ter)
c.2481T>A (p.Tyr827Ter)
13g.108208801T>ACA388612989LIG4c.2267A>T (p.Tyr756Phe)
c.2468A>T (p.Tyr823Phe)
c.2504A>T (p.Tyr835Phe)
c.2480A>T (p.Tyr827Phe)
13g.108208801T>CCA7043486LIG4c.2267A>G (p.Tyr756Cys)
c.2468A>G (p.Tyr823Cys)
c.2504A>G (p.Tyr835Cys)
c.2480A>G (p.Tyr827Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208801T>GCA388612992LIG4c.2267A>C (p.Tyr756Ser)
c.2468A>C (p.Tyr823Ser)
c.2504A>C (p.Tyr835Ser)
c.2480A>C (p.Tyr827Ser)
13g.108208801T=CA2117793917LIG4c.2267A= (p.Tyr756=)
c.2468A= (p.Tyr823=)
c.2504A= (p.Tyr835=)
c.2480A= (p.Tyr827=)
13g.108208802A=CA2117793918LIG4c.2266T= (p.Tyr756=)
c.2467T= (p.Tyr823=)
c.2503T= (p.Tyr835=)
c.2479T= (p.Tyr827=)
13g.108208802A>CCA7043488LIG4c.2266T>G (p.Tyr756Asp)
c.2467T>G (p.Tyr823Asp)
c.2503T>G (p.Tyr835Asp)
c.2479T>G (p.Tyr827Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208802A>GCA7043487LIG4c.2266T>C (p.Tyr756His)
c.2467T>C (p.Tyr823His)
c.2503T>C (p.Tyr835His)
c.2479T>C (p.Tyr827His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208802A>TCA388612997LIG4c.2266T>A (p.Tyr756Asn)
c.2467T>A (p.Tyr823Asn)
c.2503T>A (p.Tyr835Asn)
c.2479T>A (p.Tyr827Asn)
13g.108208803C>ACA484975036LIG4c.2265G>T (p.Ser755=)
c.2466G>T (p.Ser822=)
c.2502G>T (p.Ser834=)
c.2478G>T (p.Ser826=)
 ClinVar gnomAD v4
13g.108208803C=CA2117793919LIG4c.2265G= (p.Ser755=)
c.2466G= (p.Ser822=)
c.2502G= (p.Ser834=)
c.2478G= (p.Ser826=)
13g.108208803C>GCA484975038LIG4c.2265G>C (p.Ser755=)
c.2466G>C (p.Ser822=)
c.2502G>C (p.Ser834=)
c.2478G>C (p.Ser826=)
 gnomAD v4
13g.108208803C>TCA7043489LIG4c.2265G>A (p.Ser755=)
c.2466G>A (p.Ser822=)
c.2502G>A (p.Ser834=)
c.2478G>A (p.Ser826=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208804G>ACA7043490LIG4c.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
13g.108208804G>CCA388613002LIG4c.2264C>G (p.Ser755Trp)
c.2465C>G (p.Ser822Trp)
c.2501C>G (p.Ser834Trp)
c.2477C>G (p.Ser826Trp)
 ClinVar gnomAD v4
13g.108208804G=CA2117793920LIG4c.2264C= (p.Ser755=)
c.2465C= (p.Ser822=)
c.2501C= (p.Ser834=)
c.2477C= (p.Ser826=)
13g.108208804G>TCA388613005LIG4c.2264C>A (p.Ser755Ter)
c.2465C>A (p.Ser822Ter)
c.2501C>A (p.Ser834Ter)
c.2477C>A (p.Ser826Ter)
13g.108208805A>CCA388613008LIG4c.2263T>G (p.Ser755Ala)
c.2464T>G (p.Ser822Ala)
c.2500T>G (p.Ser834Ala)
c.2476T>G (p.Ser826Ala)
13g.108208805A>GCA388613011LIG4c.2263T>C (p.Ser755Pro)
c.2464T>C (p.Ser822Pro)
c.2500T>C (p.Ser834Pro)
c.2476T>C (p.Ser826Pro)
13g.108208805A>TCA388613013LIG4c.2263T>A (p.Ser755Thr)
c.2464T>A (p.Ser822Thr)
c.2500T>A (p.Ser834Thr)
c.2476T>A (p.Ser826Thr)
13g.108208806G>ACA484975041LIG4c.2262C>T (p.Asp754=)
c.2463C>T (p.Asp821=)
c.2499C>T (p.Asp833=)
c.2475C>T (p.Asp825=)
 gnomAD v4
13g.108208806G>CCA388613014LIG4c.2262C>G (p.Asp754Glu)
c.2463C>G (p.Asp821Glu)
c.2499C>G (p.Asp833Glu)
c.2475C>G (p.Asp825Glu)
13g.108208806G>TCA388613015LIG4c.2262C>A (p.Asp754Glu)
c.2463C>A (p.Asp821Glu)
c.2499C>A (p.Asp833Glu)
c.2475C>A (p.Asp825Glu)
13g.108208807T>ACA388613019LIG4c.2261A>T (p.Asp754Val)
c.2462A>T (p.Asp821Val)
c.2498A>T (p.Asp833Val)
c.2474A>T (p.Asp825Val)
 COSMIC
13g.108208807T>CCA388613023LIG4c.2261A>G (p.Asp754Gly)
c.2462A>G (p.Asp821Gly)
c.2498A>G (p.Asp833Gly)
c.2474A>G (p.Asp825Gly)
 ClinVar dbSNP gnomAD v4
13g.108208807T>GCA388613025LIG4c.2261A>C (p.Asp754Ala)
c.2462A>C (p.Asp821Ala)
c.2498A>C (p.Asp833Ala)
c.2474A>C (p.Asp825Ala)
13g.108208807T=CA2117793921LIG4c.2261A= (p.Asp754=)
c.2462A= (p.Asp821=)
c.2498A= (p.Asp833=)
c.2474A= (p.Asp825=)
13g.108208808C>ACA388613030LIG4c.2260G>T (p.Asp754Tyr)
c.2461G>T (p.Asp821Tyr)
c.2497G>T (p.Asp833Tyr)
c.2473G>T (p.Asp825Tyr)
13g.108208808C>GCA388613036LIG4c.2260G>C (p.Asp754His)
c.2461G>C (p.Asp821His)
c.2497G>C (p.Asp833His)
c.2473G>C (p.Asp825His)
 gnomAD v4
13g.108208808C>TCA388613033LIG4c.2260G>A (p.Asp754Asn)
c.2461G>A (p.Asp821Asn)
c.2497G>A (p.Asp833Asn)
c.2473G>A (p.Asp825Asn)
13g.108208809C>ACA388613042LIG4c.2259G>T (p.Leu753Phe)
c.2460G>T (p.Leu820Phe)
c.2496G>T (p.Leu832Phe)
c.2472G>T (p.Leu824Phe)
13g.108208809C=CA2117793922LIG4c.2259G= (p.Leu753=)
c.2460G= (p.Leu820=)
c.2496G= (p.Leu832=)
c.2472G= (p.Leu824=)
13g.108208809C>GCA7043491LIG4c.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
13g.108208809C>TCA484975043LIG4c.2259G>A (p.Leu753=)
c.2460G>A (p.Leu820=)
c.2496G>A (p.Leu832=)
c.2472G>A (p.Leu824=)
13g.108208810A>CCA388613045LIG4c.2258T>G (p.Leu753Trp)
c.2459T>G (p.Leu820Trp)
c.2495T>G (p.Leu832Trp)
c.2471T>G (p.Leu824Trp)
13g.108208810A>GCA388613048LIG4c.2258T>C (p.Leu753Ser)
c.2459T>C (p.Leu820Ser)
c.2495T>C (p.Leu832Ser)
c.2471T>C (p.Leu824Ser)
13g.108208810A>TCA388613051LIG4c.2258T>A (p.Leu753Ter)
c.2459T>A (p.Leu820Ter)
c.2495T>A (p.Leu832Ter)
c.2471T>A (p.Leu824Ter)
13g.108208811A=CA2117793923LIG4c.2257T= (p.Leu753=)
c.2458T= (p.Leu820=)
c.2494T= (p.Leu832=)
c.2470T= (p.Leu824=)
13g.108208811A>CCA388613054LIG4c.2257T>G (p.Leu753Val)
c.2458T>G (p.Leu820Val)
c.2494T>G (p.Leu832Val)
c.2470T>G (p.Leu824Val)
13g.108208811A>GCA484975049LIG4c.2257T>C (p.Leu753=)
c.2458T>C (p.Leu820=)
c.2494T>C (p.Leu832=)
c.2470T>C (p.Leu824=)
 dbSNP gnomAD v2 gnomAD v4
13g.108208811A>TCA388613056LIG4c.2257T>A (p.Leu753Met)
c.2458T>A (p.Leu820Met)
c.2494T>A (p.Leu832Met)
c.2470T>A (p.Leu824Met)
13g.108208812A>CCA388613063LIG4c.2256T>G (p.Tyr752Ter)
c.2457T>G (p.Tyr819Ter)
c.2493T>G (p.Tyr831Ter)
c.2469T>G (p.Tyr823Ter)
13g.108208812A>GCA484975051LIG4c.2256T>C (p.Tyr752=)
c.2457T>C (p.Tyr819=)
c.2493T>C (p.Tyr831=)
c.2469T>C (p.Tyr823=)
13g.108208812A>TCA388613065LIG4c.2256T>A (p.Tyr752Ter)
c.2457T>A (p.Tyr819Ter)
c.2493T>A (p.Tyr831Ter)
c.2469T>A (p.Tyr823Ter)
13g.108208813T>ACA388613067LIG4c.2255A>T (p.Tyr752Phe)
c.2456A>T (p.Tyr819Phe)
c.2492A>T (p.Tyr831Phe)
c.2468A>T (p.Tyr823Phe)
13g.108208813T>CCA388613070LIG4c.2255A>G (p.Tyr752Cys)
c.2456A>G (p.Tyr819Cys)
c.2492A>G (p.Tyr831Cys)
c.2468A>G (p.Tyr823Cys)
 dbSNP gnomAD v2 gnomAD v4
13g.108208813T>GCA388613073LIG4c.2255A>C (p.Tyr752Ser)
c.2456A>C (p.Tyr819Ser)
c.2492A>C (p.Tyr831Ser)
c.2468A>C (p.Tyr823Ser)
13g.108208813T=CA2117793924LIG4c.2255A= (p.Tyr752=)
c.2456A= (p.Tyr819=)
c.2492A= (p.Tyr831=)
c.2468A= (p.Tyr823=)
13g.108208814A>CCA388613075LIG4c.2254T>G (p.Tyr752Asp)
c.2455T>G (p.Tyr819Asp)
c.2491T>G (p.Tyr831Asp)
c.2467T>G (p.Tyr823Asp)
13g.108208814A>GCA388613078LIG4c.2254T>C (p.Tyr752His)
c.2455T>C (p.Tyr819His)
c.2491T>C (p.Tyr831His)
c.2467T>C (p.Tyr823His)
13g.108208814A>TCA388613079LIG4c.2254T>A (p.Tyr752Asn)
c.2455T>A (p.Tyr819Asn)
c.2491T>A (p.Tyr831Asn)
c.2467T>A (p.Tyr823Asn)
13g.108208815_108208816dupCA2575452311LIG4c.2253_2254dup (p.Tyr752PhefsTer12)
c.2454_2455dup (p.Tyr819PhefsTer12)
c.2490_2491dup (p.Tyr831PhefsTer12)
c.2466_2467dup (p.Tyr823PhefsTer12)
13g.108208815A>CCA484975057LIG4c.2253T>G (p.Val751=)
c.2454T>G (p.Val818=)
c.2490T>G (p.Val830=)
c.2466T>G (p.Val822=)
13g.108208815A>GCA484975060LIG4c.2253T>C (p.Val751=)
c.2454T>C (p.Val818=)
c.2490T>C (p.Val830=)
c.2466T>C (p.Val822=)
13g.108208815A>TCA484975061LIG4c.2253T>A (p.Val751=)
c.2454T>A (p.Val818=)
c.2490T>A (p.Val830=)
c.2466T>A (p.Val822=)
13g.108208816A>CCA388613080LIG4c.2252T>G (p.Val751Gly)
c.2453T>G (p.Val818Gly)
c.2489T>G (p.Val830Gly)
c.2465T>G (p.Val822Gly)
13g.108208816A>GCA388613082LIG4c.2252T>C (p.Val751Ala)
c.2453T>C (p.Val818Ala)
c.2489T>C (p.Val830Ala)
c.2465T>C (p.Val822Ala)
13g.108208816A>TCA388613081LIG4c.2252T>A (p.Val751Asp)
c.2453T>A (p.Val818Asp)
c.2489T>A (p.Val830Asp)
c.2465T>A (p.Val822Asp)
13g.108208817C>ACA388613084LIG4c.2251G>T (p.Val751Phe)
c.2452G>T (p.Val818Phe)
c.2488G>T (p.Val830Phe)
c.2464G>T (p.Val822Phe)
13g.108208817C=CA2117793925LIG4c.2251G= (p.Val751=)
c.2452G= (p.Val818=)
c.2488G= (p.Val830=)
c.2464G= (p.Val822=)
13g.108208817C>GCA388613087LIG4c.2251G>C (p.Val751Leu)
c.2452G>C (p.Val818Leu)
c.2488G>C (p.Val830Leu)
c.2464G>C (p.Val822Leu)
13g.108208817C>TCA7043492LIG4c.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
13g.108208818G>ACA7043493LIG4c.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
13g.108208818G>CCA484975063LIG4c.2250C>G (p.Thr750=)
c.2451C>G (p.Thr817=)
c.2487C>G (p.Thr829=)
c.2463C>G (p.Thr821=)
13g.108208818G=CA2117793926LIG4c.2250C= (p.Thr750=)
c.2451C= (p.Thr817=)
c.2487C= (p.Thr829=)
c.2463C= (p.Thr821=)
13g.108208818G>TCA484975064LIG4c.2250C>A (p.Thr750=)
c.2451C>A (p.Thr817=)
c.2487C>A (p.Thr829=)
c.2463C>A (p.Thr821=)
 gnomAD v4
13g.108208819G>ACA388613093LIG4c.2249C>T (p.Thr750Ile)
c.2450C>T (p.Thr817Ile)
c.2486C>T (p.Thr829Ile)
c.2462C>T (p.Thr821Ile)
 COSMIC
13g.108208819G>CCA388613096LIG4c.2249C>G (p.Thr750Ser)
c.2450C>G (p.Thr817Ser)
c.2486C>G (p.Thr829Ser)
c.2462C>G (p.Thr821Ser)
13g.108208819G>TCA388613100LIG4c.2249C>A (p.Thr750Asn)
c.2450C>A (p.Thr817Asn)
c.2486C>A (p.Thr829Asn)
c.2462C>A (p.Thr821Asn)
 gnomAD v4
13g.108208819_108208820delinsGTCA2117793927LIG4c.2248_2249delinsAC (p.Thr750=)
c.2449_2450delinsAC (p.Thr817=)
c.2485_2486delinsAC (p.Thr829=)
c.2461_2462delinsAC (p.Thr821=)
13g.108208822_108208823delCA2539358168LIG4c.2248_2249del (p.Thr750ArgfsTer10)
c.2449_2450del (p.Thr817ArgfsTer10)
c.2485_2486del (p.Thr829ArgfsTer10)
c.2461_2462del (p.Thr821ArgfsTer10)
13g.108208820delCA694833143LIG4c.2248del (p.Thr750ProfsTer13)
c.2449del (p.Thr817ProfsTer13)
c.2485del (p.Thr829ProfsTer13)
c.2461del (p.Thr821ProfsTer13)
 dbSNP gnomAD v3 gnomAD v4
13g.108208820T>ACA388613103LIG4c.2248A>T (p.Thr750Ser)
c.2449A>T (p.Thr817Ser)
c.2485A>T (p.Thr829Ser)
c.2461A>T (p.Thr821Ser)
13g.108208820T>CCA7043494LIG4c.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
13g.108208820T>GCA7043495LIG4c.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
13g.108208820T=CA2117793928LIG4c.2248A= (p.Thr750=)
c.2449A= (p.Thr817=)
c.2485A= (p.Thr829=)
c.2461A= (p.Thr821=)
13g.108208821G>ACA7043496LIG4c.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
13g.108208821G>CCA388613112LIG4c.2247C>G (p.His749Gln)
c.2448C>G (p.His816Gln)
c.2484C>G (p.His828Gln)
c.2460C>G (p.His820Gln)
 COSMIC
13g.108208821G=CA2117793929LIG4c.2247C= (p.His749=)
c.2448C= (p.His816=)
c.2484C= (p.His828=)
c.2460C= (p.His820=)
13g.108208821G>TCA388613107LIG4c.2247C>A (p.His749Gln)
c.2448C>A (p.His816Gln)
c.2484C>A (p.His828Gln)
c.2460C>A (p.His820Gln)
13g.108208822T>ACA388613115LIG4c.2246A>T (p.His749Leu)
c.2447A>T (p.His816Leu)
c.2483A>T (p.His828Leu)
c.2459A>T (p.His820Leu)
13g.108208822T>CCA388613118LIG4c.2246A>G (p.His749Arg)
c.2447A>G (p.His816Arg)
c.2483A>G (p.His828Arg)
c.2459A>G (p.His820Arg)
 COSMIC
13g.108208822T>GCA388613120LIG4c.2246A>C (p.His749Pro)
c.2447A>C (p.His816Pro)
c.2483A>C (p.His828Pro)
c.2459A>C (p.His820Pro)
13g.108208823G>ACA388613122LIG4c.2245C>T (p.His749Tyr)
c.2446C>T (p.His816Tyr)
c.2482C>T (p.His828Tyr)
c.2458C>T (p.His820Tyr)
13g.108208823G>CCA388613123LIG4c.2245C>G (p.His749Asp)
c.2446C>G (p.His816Asp)
c.2482C>G (p.His828Asp)
c.2458C>G (p.His820Asp)
13g.108208823G>TCA388613124LIG4c.2245C>A (p.His749Asn)
c.2446C>A (p.His816Asn)
c.2482C>A (p.His828Asn)
c.2458C>A (p.His820Asn)
13g.108208824G>ACA484975073LIG4c.2244C>T (p.Arg748=)
c.2445C>T (p.Arg815=)
c.2481C>T (p.Arg827=)
c.2457C>T (p.Arg819=)
13g.108208824G>CCA484975071LIG4c.2244C>G (p.Arg748=)
c.2445C>G (p.Arg815=)
c.2481C>G (p.Arg827=)
c.2457C>G (p.Arg819=)
13g.108208824G=CA2117793930LIG4c.2244C= (p.Arg748=)
c.2445C= (p.Arg815=)
c.2481C= (p.Arg827=)
c.2457C= (p.Arg819=)
13g.108208824G>TCA256179228LIG4c.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
13g.108208825C>ACA7043498LIG4c.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
13g.108208825C=CA2117793931LIG4c.2243G= (p.Arg748=)
c.2444G= (p.Arg815=)
c.2480G= (p.Arg827=)
c.2456G= (p.Arg819=)
13g.108208825C>GCA388613127LIG4c.2243G>C (p.Arg748Pro)
c.2444G>C (p.Arg815Pro)
c.2480G>C (p.Arg827Pro)
c.2456G>C (p.Arg819Pro)
13g.108208825C>TCA7043497LIG4c.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
13g.108208826G>ACA7043499LIG4c.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
13g.108208826G>CCA388613130LIG4c.2242C>G (p.Arg748Gly)
c.2443C>G (p.Arg815Gly)
c.2479C>G (p.Arg827Gly)
c.2455C>G (p.Arg819Gly)
13g.108208826G=CA2117793932LIG4c.2242C= (p.Arg748=)
c.2443C= (p.Arg815=)
c.2479C= (p.Arg827=)
c.2455C= (p.Arg819=)
13g.108208826G>TCA388613132LIG4c.2242C>A (p.Arg748Ser)
c.2443C>A (p.Arg815Ser)
c.2479C>A (p.Arg827Ser)
c.2455C>A (p.Arg819Ser)
13g.108208827T>ACA484975075LIG4c.2241A>T (p.Arg747=)
c.2442A>T (p.Arg814=)
c.2478A>T (p.Arg826=)
c.2454A>T (p.Arg818=)
 COSMIC
13g.108208827T>CCA484975076LIG4c.2241A>G (p.Arg747=)
c.2442A>G (p.Arg814=)
c.2478A>G (p.Arg826=)
c.2454A>G (p.Arg818=)
13g.108208827T>GCA484975077LIG4c.2241A>C (p.Arg747=)
c.2442A>C (p.Arg814=)
c.2478A>C (p.Arg826=)
c.2454A>C (p.Arg818=)
13g.108208828C>ACA388613137LIG4c.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
13g.108208828C=CA2117793933LIG4c.2240G= (p.Arg747=)
c.2441G= (p.Arg814=)
c.2477G= (p.Arg826=)
c.2453G= (p.Arg818=)
13g.108208828C>GCA388613136LIG4c.2240G>C (p.Arg747Pro)
c.2441G>C (p.Arg814Pro)
c.2477G>C (p.Arg826Pro)
c.2453G>C (p.Arg818Pro)
13g.108208828C>TCA388613134LIG4c.2240G>A (p.Arg747Gln)
c.2441G>A (p.Arg814Gln)
c.2477G>A (p.Arg826Gln)
c.2453G>A (p.Arg818Gln)
 dbSNP gnomAD v3 gnomAD v4
13g.108208829G>ACA118975LIG4c.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
13g.108208829G>CCA388613139LIG4c.2239C>G (p.Arg747Gly)
c.2440C>G (p.Arg814Gly)
c.2476C>G (p.Arg826Gly)
c.2452C>G (p.Arg818Gly)
 gnomAD v4
13g.108208829G=CA2117793934LIG4c.2239C= (p.Arg747=)
c.2440C= (p.Arg814=)
c.2476C= (p.Arg826=)
c.2452C= (p.Arg818=)
13g.108208829G>TCA484975078LIG4c.2239C>A (p.Arg747=)
c.2440C>A (p.Arg814=)
c.2476C>A (p.Arg826=)
c.2452C>A (p.Arg818=)
 ClinVar gnomAD v4
13g.108208830A>CCA388613141LIG4c.2238T>G (p.Phe746Leu)
c.2439T>G (p.Phe813Leu)
c.2475T>G (p.Phe825Leu)
c.2451T>G (p.Phe817Leu)
13g.108208830A>GCA484975083LIG4c.2238T>C (p.Phe746=)
c.2439T>C (p.Phe813=)
c.2475T>C (p.Phe825=)
c.2451T>C (p.Phe817=)
13g.108208830A>TCA388613143LIG4c.2238T>A (p.Phe746Leu)
c.2439T>A (p.Phe813Leu)
c.2475T>A (p.Phe825Leu)
c.2451T>A (p.Phe817Leu)
13g.108208831A>CCA388613144LIG4c.2237T>G (p.Phe746Cys)
c.2438T>G (p.Phe813Cys)
c.2474T>G (p.Phe825Cys)
c.2450T>G (p.Phe817Cys)
13g.108208831A>GCA388613146LIG4c.2237T>C (p.Phe746Ser)
c.2438T>C (p.Phe813Ser)
c.2474T>C (p.Phe825Ser)
c.2450T>C (p.Phe817Ser)
13g.108208831A>TCA388613148LIG4c.2237T>A (p.Phe746Tyr)
c.2438T>A (p.Phe813Tyr)
c.2474T>A (p.Phe825Tyr)
c.2450T>A (p.Phe817Tyr)
13g.108208832A=CA2117793935LIG4c.2236T= (p.Phe746=)
c.2437T= (p.Phe813=)
c.2473T= (p.Phe825=)
c.2449T= (p.Phe817=)
13g.108208832A>CCA388613150LIG4c.2236T>G (p.Phe746Val)
c.2437T>G (p.Phe813Val)
c.2473T>G (p.Phe825Val)
c.2449T>G (p.Phe817Val)
13g.108208832A>GCA388613151LIG4c.2236T>C (p.Phe746Leu)
c.2437T>C (p.Phe813Leu)
c.2473T>C (p.Phe825Leu)
c.2449T>C (p.Phe817Leu)
 dbSNP
13g.108208832A>TCA388613153LIG4c.2236T>A (p.Phe746Ile)
c.2437T>A (p.Phe813Ile)
c.2473T>A (p.Phe825Ile)
c.2449T>A (p.Phe817Ile)
13g.108208833C>ACA388613154LIG4c.2235G>T (p.Met745Ile)
c.2436G>T (p.Met812Ile)
c.2472G>T (p.Met824Ile)
c.2448G>T (p.Met816Ile)
13g.108208833C=CA2117793936LIG4c.2235G= (p.Met745=)
c.2436G= (p.Met812=)
c.2472G= (p.Met824=)
c.2448G= (p.Met816=)
13g.108208833C>GCA388613156LIG4c.2235G>C (p.Met745Ile)
c.2436G>C (p.Met812Ile)
c.2472G>C (p.Met824Ile)
c.2448G>C (p.Met816Ile)
13g.108208833C>TCA7043500LIG4c.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
13g.108208834A=CA2117793937LIG4c.2234T= (p.Met745=)
c.2435T= (p.Met812=)
c.2471T= (p.Met824=)
c.2447T= (p.Met816=)
13g.108208834A>CCA7043501LIG4c.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
13g.108208834A>GCA388613160LIG4c.2234T>C (p.Met745Thr)
c.2435T>C (p.Met812Thr)
c.2471T>C (p.Met824Thr)
c.2447T>C (p.Met816Thr)
 gnomAD v4
13g.108208834A>TCA388613159LIG4c.2234T>A (p.Met745Lys)
c.2435T>A (p.Met812Lys)
c.2471T>A (p.Met824Lys)
c.2447T>A (p.Met816Lys)
13g.108208835T>ACA388613161LIG4c.2233A>T (p.Met745Leu)
c.2434A>T (p.Met812Leu)
c.2470A>T (p.Met824Leu)
c.2446A>T (p.Met816Leu)
13g.108208835T>CCA7043502LIG4c.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
13g.108208835T>GCA388613163LIG4c.2233A>C (p.Met745Leu)
c.2434A>C (p.Met812Leu)
c.2470A>C (p.Met824Leu)
c.2446A>C (p.Met816Leu)
13g.108208835T=CA2117793938LIG4c.2233A= (p.Met745=)
c.2434A= (p.Met812=)
c.2470A= (p.Met824=)
c.2446A= (p.Met816=)
13g.108208836A>CCA388613165LIG4c.2232T>G (p.Ser744Arg)
c.2433T>G (p.Ser811Arg)
c.2469T>G (p.Ser823Arg)
c.2445T>G (p.Ser815Arg)
13g.108208836A>GCA484975192LIG4c.2232T>C (p.Ser744=)
c.2433T>C (p.Ser811=)
c.2469T>C (p.Ser823=)
c.2445T>C (p.Ser815=)
 gnomAD v4
13g.108208836A>TCA388613166LIG4c.2232T>A (p.Ser744Arg)
c.2433T>A (p.Ser811Arg)
c.2469T>A (p.Ser823Arg)
c.2445T>A (p.Ser815Arg)
13g.108208837C>ACA388613168LIG4c.2231G>T (p.Ser744Ile)
c.2432G>T (p.Ser811Ile)
c.2468G>T (p.Ser823Ile)
c.2444G>T (p.Ser815Ile)
13g.108208837C>GCA388613170LIG4c.2231G>C (p.Ser744Thr)
c.2432G>C (p.Ser811Thr)
c.2468G>C (p.Ser823Thr)
c.2444G>C (p.Ser815Thr)
13g.108208837C>TCA388613172LIG4c.2231G>A (p.Ser744Asn)
c.2432G>A (p.Ser811Asn)
c.2468G>A (p.Ser823Asn)
c.2444G>A (p.Ser815Asn)
13g.108208838T>ACA388613173LIG4c.2230A>T (p.Ser744Cys)
c.2431A>T (p.Ser811Cys)
c.2467A>T (p.Ser823Cys)
c.2443A>T (p.Ser815Cys)
13g.108208838T>CCA388613175LIG4c.2230A>G (p.Ser744Gly)
c.2431A>G (p.Ser811Gly)
c.2467A>G (p.Ser823Gly)
c.2443A>G (p.Ser815Gly)
 dbSNP gnomAD v2 gnomAD v4
13g.108208838T>GCA388613176LIG4c.2230A>C (p.Ser744Arg)
c.2431A>C (p.Ser811Arg)
c.2467A>C (p.Ser823Arg)
c.2443A>C (p.Ser815Arg)
13g.108208838T=CA2117793939LIG4c.2230A= (p.Ser744=)
c.2431A= (p.Ser811=)
c.2467A= (p.Ser823=)
c.2443A= (p.Ser815=)
13g.108208838_108208843delinsTGAGAGCA2117793940LIG4c.2225_2230delinsCTCTCA (p.Pro742=)
c.2426_2431delinsCTCTCA (p.Pro809=)
c.2462_2467delinsCTCTCA (p.Pro821=)
c.2438_2443delinsCTCTCA (p.Pro813=)
13g.108208839G>ACA7043503LIG4c.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
13g.108208839G>CCA484975199LIG4c.2229C>G (p.Leu743=)
c.2430C>G (p.Leu810=)
c.2466C>G (p.Leu822=)
c.2442C>G (p.Leu814=)
 dbSNP
13g.108208839G=CA2117793941LIG4c.2229C= (p.Leu743=)
c.2430C= (p.Leu810=)
c.2466C= (p.Leu822=)
c.2442C= (p.Leu814=)
13g.108208839G>TCA484975197LIG4c.2229C>A (p.Leu743=)
c.2430C>A (p.Leu810=)
c.2466C>A (p.Leu822=)
c.2442C>A (p.Leu814=)
13g.108208844_108208848delCA960044961LIG4c.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
13g.108208840A>CCA388613179LIG4c.2228T>G (p.Leu743Arg)
c.2429T>G (p.Leu810Arg)
c.2465T>G (p.Leu822Arg)
c.2441T>G (p.Leu814Arg)
13g.108208840A>GCA388613180LIG4c.2228T>C (p.Leu743Pro)
c.2429T>C (p.Leu810Pro)
c.2465T>C (p.Leu822Pro)
c.2441T>C (p.Leu814Pro)
13g.108208840A>TCA388613182LIG4c.2228T>A (p.Leu743His)
c.2429T>A (p.Leu810His)
c.2465T>A (p.Leu822His)
c.2441T>A (p.Leu814His)
13g.108208841G>ACA7043504LIG4c.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
13g.108208841G>CCA388613185LIG4c.2227C>G (p.Leu743Val)
c.2428C>G (p.Leu810Val)
c.2464C>G (p.Leu822Val)
c.2440C>G (p.Leu814Val)
 COSMIC
13g.108208841G=CA2117793942LIG4c.2227C= (p.Leu743=)
c.2428C= (p.Leu810=)
c.2464C= (p.Leu822=)
c.2440C= (p.Leu814=)
13g.108208841G>TCA388613186LIG4c.2227C>A (p.Leu743Ile)
c.2428C>A (p.Leu810Ile)
c.2464C>A (p.Leu822Ile)
c.2440C>A (p.Leu814Ile)
13g.108208842A=CA2117793943LIG4c.2226T= (p.Pro742=)
c.2427T= (p.Pro809=)
c.2463T= (p.Pro821=)
c.2439T= (p.Pro813=)
13g.108208842A>CCA484975204LIG4c.2226T>G (p.Pro742=)
c.2427T>G (p.Pro809=)
c.2463T>G (p.Pro821=)
c.2439T>G (p.Pro813=)
13g.108208842A>GCA484975205LIG4c.2226T>C (p.Pro742=)
c.2427T>C (p.Pro809=)
c.2463T>C (p.Pro821=)
c.2439T>C (p.Pro813=)
 dbSNP gnomAD v2
13g.108208842A>TCA484975207LIG4c.2226T>A (p.Pro742=)
c.2427T>A (p.Pro809=)
c.2463T>A (p.Pro821=)
c.2439T>A (p.Pro813=)
 ClinVar
13g.108208842dupCA2739277735LIG4c.2226dup (p.Leu743SerfsTer18)
c.2427dup (p.Leu810SerfsTer18)
c.2463dup (p.Leu822SerfsTer18)
c.2439dup (p.Leu814SerfsTer18)
 ClinVar
13g.108208843G>ACA388613188LIG4c.2225C>T (p.Pro742Leu)
c.2426C>T (p.Pro809Leu)
c.2462C>T (p.Pro821Leu)
c.2438C>T (p.Pro813Leu)
 ClinVar gnomAD v4
13g.108208843G>CCA388613190LIG4c.2225C>G (p.Pro742Arg)
c.2426C>G (p.Pro809Arg)
c.2462C>G (p.Pro821Arg)
c.2438C>G (p.Pro813Arg)
13g.108208843G>TCA388613189LIG4c.2225C>A (p.Pro742His)
c.2426C>A (p.Pro809His)
c.2462C>A (p.Pro821His)
c.2438C>A (p.Pro813His)
13g.108208844G>ACA388613192LIG4c.2224C>T (p.Pro742Ser)
c.2425C>T (p.Pro809Ser)
c.2461C>T (p.Pro821Ser)
c.2437C>T (p.Pro813Ser)
13g.108208844G>CCA7043505LIG4c.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
13g.108208844G=CA2117793944LIG4c.2224C= (p.Pro742=)
c.2425C= (p.Pro809=)
c.2461C= (p.Pro821=)
c.2437C= (p.Pro813=)
13g.108208844G>TCA388613193LIG4c.2224C>A (p.Pro742Thr)
c.2425C>A (p.Pro809Thr)
c.2461C>A (p.Pro821Thr)
c.2437C>A (p.Pro813Thr)
13g.108208845A=CA2117793945LIG4c.2223T= (p.Ser741=)
c.2424T= (p.Ser808=)
c.2460T= (p.Ser820=)
c.2436T= (p.Ser812=)
13g.108208845A>CCA484975211LIG4c.2223T>G (p.Ser741=)
c.2424T>G (p.Ser808=)
c.2460T>G (p.Ser820=)
c.2436T>G (p.Ser812=)
13g.108208845A>GCA7043506LIG4c.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
13g.108208845A>TCA484975214LIG4c.2223T>A (p.Ser741=)
c.2424T>A (p.Ser808=)
c.2460T>A (p.Ser820=)
c.2436T>A (p.Ser812=)
13g.108208846G>ACA388613196LIG4c.2222C>T (p.Ser741Phe)
c.2423C>T (p.Ser808Phe)
c.2459C>T (p.Ser820Phe)
c.2435C>T (p.Ser812Phe)
13g.108208846G>CCA7043507LIG4c.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
13g.108208846G=CA2117793946LIG4c.2222C= (p.Ser741=)
c.2423C= (p.Ser808=)
c.2459C= (p.Ser820=)
c.2435C= (p.Ser812=)
13g.108208846G>TCA388613198LIG4c.2222C>A (p.Ser741Tyr)
c.2423C>A (p.Ser808Tyr)
c.2459C>A (p.Ser820Tyr)
c.2435C>A (p.Ser812Tyr)
13g.108208847A=CA2117793947LIG4c.2221T= (p.Ser741=)
c.2422T= (p.Ser808=)
c.2458T= (p.Ser820=)
c.2434T= (p.Ser812=)
13g.108208847A>CCA388613199LIG4c.2221T>G (p.Ser741Ala)
c.2422T>G (p.Ser808Ala)
c.2458T>G (p.Ser820Ala)
c.2434T>G (p.Ser812Ala)
13g.108208847A>GCA388613200LIG4c.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
13g.108208847A>TCA388613202LIG4c.2221T>A (p.Ser741Thr)
c.2422T>A (p.Ser808Thr)
c.2458T>A (p.Ser820Thr)
c.2434T>A (p.Ser812Thr)
13g.108208848G>ACA7043508LIG4c.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
13g.108208848G>CCA388613205LIG4c.2220C>G (p.Cys740Trp)
c.2421C>G (p.Cys807Trp)
c.2457C>G (p.Cys819Trp)
c.2433C>G (p.Cys811Trp)
 dbSNP gnomAD v2 gnomAD v4
13g.108208848G=CA2117793948LIG4c.2220C= (p.Cys740=)
c.2421C= (p.Cys807=)
c.2457C= (p.Cys819=)
c.2433C= (p.Cys811=)
13g.108208848G>TCA388613204LIG4c.2220C>A (p.Cys740Ter)
c.2421C>A (p.Cys807Ter)
c.2457C>A (p.Cys819Ter)
c.2433C>A (p.Cys811Ter)
13g.108208849C>ACA388613206LIG4c.2219G>T (p.Cys740Phe)
c.2420G>T (p.Cys807Phe)
c.2456G>T (p.Cys819Phe)
c.2432G>T (p.Cys811Phe)
13g.108208849C>GCA388613208LIG4c.2219G>C (p.Cys740Ser)
c.2420G>C (p.Cys807Ser)
c.2456G>C (p.Cys819Ser)
c.2432G>C (p.Cys811Ser)
13g.108208849C>TCA388613210LIG4c.2219G>A (p.Cys740Tyr)
c.2420G>A (p.Cys807Tyr)
c.2456G>A (p.Cys819Tyr)
c.2432G>A (p.Cys811Tyr)
13g.108208850A>CCA388613211LIG4c.2218T>G (p.Cys740Gly)
c.2419T>G (p.Cys807Gly)
c.2455T>G (p.Cys819Gly)
c.2431T>G (p.Cys811Gly)
 gnomAD v4
13g.108208850A>GCA388613213LIG4c.2218T>C (p.Cys740Arg)
c.2419T>C (p.Cys807Arg)
c.2455T>C (p.Cys819Arg)
c.2431T>C (p.Cys811Arg)
13g.108208850A>TCA388613214LIG4c.2218T>A (p.Cys740Ser)
c.2419T>A (p.Cys807Ser)
c.2455T>A (p.Cys819Ser)
c.2431T>A (p.Cys811Ser)
13g.108208851A>CCA388613216LIG4c.2217T>G (p.Asp739Glu)
c.2418T>G (p.Asp806Glu)
c.2454T>G (p.Asp818Glu)
c.2430T>G (p.Asp810Glu)
13g.108208851A>GCA484975226LIG4c.2217T>C (p.Asp739=)
c.2418T>C (p.Asp806=)
c.2454T>C (p.Asp818=)
c.2430T>C (p.Asp810=)
 gnomAD v4
13g.108208851A>TCA388613218LIG4c.2217T>A (p.Asp739Glu)
c.2418T>A (p.Asp806Glu)
c.2454T>A (p.Asp818Glu)
c.2430T>A (p.Asp810Glu)
13g.108208852T>ACA388613220LIG4c.2216A>T (p.Asp739Val)
c.2417A>T (p.Asp806Val)
c.2453A>T (p.Asp818Val)
c.2429A>T (p.Asp810Val)
 dbSNP
13g.108208852T>CCA7043509LIG4c.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
13g.108208852T>GCA388613222LIG4c.2216A>C (p.Asp739Ala)
c.2417A>C (p.Asp806Ala)
c.2453A>C (p.Asp818Ala)
c.2429A>C (p.Asp810Ala)
13g.108208852T=CA2117793949LIG4c.2216A= (p.Asp739=)
c.2417A= (p.Asp806=)
c.2453A= (p.Asp818=)
c.2429A= (p.Asp810=)
13g.108208853C>ACA388613227LIG4c.2215G>T (p.Asp739Tyr)
c.2416G>T (p.Asp806Tyr)
c.2452G>T (p.Asp818Tyr)
c.2428G>T (p.Asp810Tyr)
13g.108208853C>GCA388613226LIG4c.2215G>C (p.Asp739His)
c.2416G>C (p.Asp806His)
c.2452G>C (p.Asp818His)
c.2428G>C (p.Asp810His)
13g.108208853C>TCA388613224LIG4c.2215G>A (p.Asp739Asn)
c.2416G>A (p.Asp806Asn)
c.2452G>A (p.Asp818Asn)
c.2428G>A (p.Asp810Asn)
13g.108208854C>ACA388613229LIG4c.2214G>T (p.Trp738Cys)
c.2415G>T (p.Trp805Cys)
c.2451G>T (p.Trp817Cys)
c.2427G>T (p.Trp809Cys)
13g.108208854C>GCA388613231LIG4c.2214G>C (p.Trp738Cys)
c.2415G>C (p.Trp805Cys)
c.2451G>C (p.Trp817Cys)
c.2427G>C (p.Trp809Cys)
13g.108208854C>TCA388613232LIG4c.2214G>A (p.Trp738Ter)
c.2415G>A (p.Trp805Ter)
c.2451G>A (p.Trp817Ter)
c.2427G>A (p.Trp809Ter)
13g.108208855C>ACA388613234LIG4c.2213G>T (p.Trp738Leu)
c.2414G>T (p.Trp805Leu)
c.2450G>T (p.Trp817Leu)
c.2426G>T (p.Trp809Leu)
13g.108208855C>GCA388613235LIG4c.2213G>C (p.Trp738Ser)
c.2414G>C (p.Trp805Ser)
c.2450G>C (p.Trp817Ser)
c.2426G>C (p.Trp809Ser)
13g.108208855C>TCA388613237LIG4c.2213G>A (p.Trp738Ter)
c.2414G>A (p.Trp805Ter)
c.2450G>A (p.Trp817Ter)
c.2426G>A (p.Trp809Ter)
13g.108208856A>CCA388613239LIG4c.2212T>G (p.Trp738Gly)
c.2413T>G (p.Trp805Gly)
c.2449T>G (p.Trp817Gly)
c.2425T>G (p.Trp809Gly)
13g.108208856A>GCA388613240LIG4c.2212T>C (p.Trp738Arg)
c.2413T>C (p.Trp805Arg)
c.2449T>C (p.Trp817Arg)
c.2425T>C (p.Trp809Arg)
13g.108208856A>TCA388613242LIG4c.2212T>A (p.Trp738Arg)
c.2413T>A (p.Trp805Arg)
c.2449T>A (p.Trp817Arg)
c.2425T>A (p.Trp809Arg)
13g.108208857G>ACA484975233LIG4c.2211C>T (p.Ser737=)
c.2412C>T (p.Ser804=)
c.2448C>T (p.Ser816=)
c.2424C>T (p.Ser808=)
 ClinVar dbSNP gnomAD v4
13g.108208857G>CCA484975235LIG4c.2211C>G (p.Ser737=)
c.2412C>G (p.Ser804=)
c.2448C>G (p.Ser816=)
c.2424C>G (p.Ser808=)
13g.108208857G=CA2117793950LIG4c.2211C= (p.Ser737=)
c.2412C= (p.Ser804=)
c.2448C= (p.Ser816=)
c.2424C= (p.Ser808=)
13g.108208857G>TCA484975237LIG4c.2211C>A (p.Ser737=)
c.2412C>A (p.Ser804=)
c.2448C>A (p.Ser816=)
c.2424C>A (p.Ser808=)
13g.108208858G>ACA388613244LIG4c.2210C>T (p.Ser737Phe)
c.2411C>T (p.Ser804Phe)
c.2447C>T (p.Ser816Phe)
c.2423C>T (p.Ser808Phe)
 gnomAD v4
13g.108208858G>CCA388613245LIG4c.2210C>G (p.Ser737Cys)
c.2411C>G (p.Ser804Cys)
c.2447C>G (p.Ser816Cys)
c.2423C>G (p.Ser808Cys)
 gnomAD v4
13g.108208858G>TCA388613247LIG4c.2210C>A (p.Ser737Tyr)
c.2411C>A (p.Ser804Tyr)
c.2447C>A (p.Ser816Tyr)
c.2423C>A (p.Ser808Tyr)
13g.108208859A>CCA388613252LIG4c.2209T>G (p.Ser737Ala)
c.2410T>G (p.Ser804Ala)
c.2446T>G (p.Ser816Ala)
c.2422T>G (p.Ser808Ala)
 COSMIC
13g.108208859A>GCA388613250LIG4c.2209T>C (p.Ser737Pro)
c.2410T>C (p.Ser804Pro)
c.2446T>C (p.Ser816Pro)
c.2422T>C (p.Ser808Pro)
13g.108208859A>TCA388613248LIG4c.2209T>A (p.Ser737Thr)
c.2410T>A (p.Ser804Thr)
c.2446T>A (p.Ser816Thr)
c.2422T>A (p.Ser808Thr)
13g.108208859_108208868delCA2499221942LIG4c.2200_2209del (p.Tyr734ProfsTer26)
c.2401_2410del (p.Tyr801ProfsTer26)
c.2437_2446del (p.Tyr813ProfsTer26)
c.2413_2422del (p.Tyr805ProfsTer26)
 ClinVar dbSNP
13g.108208860A>CCA388613254LIG4c.2208T>G (p.Tyr736Ter)
c.2409T>G (p.Tyr803Ter)
c.2445T>G (p.Tyr815Ter)
c.2421T>G (p.Tyr807Ter)
13g.108208860A>GCA484975243LIG4c.2208T>C (p.Tyr736=)
c.2409T>C (p.Tyr803=)
c.2445T>C (p.Tyr815=)
c.2421T>C (p.Tyr807=)
 ClinVar
13g.108208860A>TCA388613255LIG4c.2208T>A (p.Tyr736Ter)
c.2409T>A (p.Tyr803Ter)
c.2445T>A (p.Tyr815Ter)
c.2421T>A (p.Tyr807Ter)
13g.108208861T>ACA388613256LIG4c.2207A>T (p.Tyr736Phe)
c.2408A>T (p.Tyr803Phe)
c.2444A>T (p.Tyr815Phe)
c.2420A>T (p.Tyr807Phe)
13g.108208861T>CCA388613257LIG4c.2207A>G (p.Tyr736Cys)
c.2408A>G (p.Tyr803Cys)
c.2444A>G (p.Tyr815Cys)
c.2420A>G (p.Tyr807Cys)
 gnomAD v4
13g.108208861T>GCA388613258LIG4c.2207A>C (p.Tyr736Ser)
c.2408A>C (p.Tyr803Ser)
c.2444A>C (p.Tyr815Ser)
c.2420A>C (p.Tyr807Ser)
13g.108208862A=CA2117793951LIG4c.2206T= (p.Tyr736=)
c.2407T= (p.Tyr803=)
c.2443T= (p.Tyr815=)
c.2419T= (p.Tyr807=)
13g.108208862A>CCA388613260LIG4c.2206T>G (p.Tyr736Asp)
c.2407T>G (p.Tyr803Asp)
c.2443T>G (p.Tyr815Asp)
c.2419T>G (p.Tyr807Asp)
 dbSNP gnomAD v4
13g.108208862A>GCA388613262LIG4c.2206T>C (p.Tyr736His)
c.2407T>C (p.Tyr803His)
c.2443T>C (p.Tyr815His)
c.2419T>C (p.Tyr807His)
 gnomAD v4
13g.108208862A>TCA388613264LIG4c.2206T>A (p.Tyr736Asn)
c.2407T>A (p.Tyr803Asn)
c.2443T>A (p.Tyr815Asn)
c.2419T>A (p.Tyr807Asn)
13g.108208863C>ACA484975245LIG4c.2205G>T (p.Arg735=)
c.2406G>T (p.Arg802=)
c.2442G>T (p.Arg814=)
c.2418G>T (p.Arg806=)
 gnomAD v4
13g.108208863C>GCA484975247LIG4c.2205G>C (p.Arg735=)
c.2406G>C (p.Arg802=)
c.2442G>C (p.Arg814=)
c.2418G>C (p.Arg806=)
13g.108208863C>TCA484975248LIG4c.2205G>A (p.Arg735=)
c.2406G>A (p.Arg802=)
c.2442G>A (p.Arg814=)
c.2418G>A (p.Arg806=)
13g.108208864C>ACA388613265LIG4c.2204G>T (p.Arg735Leu)
c.2405G>T (p.Arg802Leu)
c.2441G>T (p.Arg814Leu)
c.2417G>T (p.Arg806Leu)
13g.108208864C=CA2117793952LIG4c.2204G= (p.Arg735=)
c.2405G= (p.Arg802=)
c.2441G= (p.Arg814=)
c.2417G= (p.Arg806=)
13g.108208864C>GCA388613267LIG4c.2204G>C (p.Arg735Pro)
c.2405G>C (p.Arg802Pro)
c.2441G>C (p.Arg814Pro)
c.2417G>C (p.Arg806Pro)
13g.108208864C>TCA7043510LIG4c.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
13g.108208865G>ACA7043511LIG4c.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
13g.108208865G>CCA388613269LIG4c.2203C>G (p.Arg735Gly)
c.2404C>G (p.Arg802Gly)
c.2440C>G (p.Arg814Gly)
c.2416C>G (p.Arg806Gly)
13g.108208865G=CA2117793953LIG4c.2203C= (p.Arg735=)
c.2404C= (p.Arg802=)
c.2440C= (p.Arg814=)
c.2416C= (p.Arg806=)
13g.108208865G>TCA484975250LIG4c.2203C>A (p.Arg735=)
c.2404C>A (p.Arg802=)
c.2440C>A (p.Arg814=)
c.2416C>A (p.Arg806=)
 gnomAD v4
13g.108208866A>CCA388613271LIG4c.2202T>G (p.Tyr734Ter)
c.2403T>G (p.Tyr801Ter)
c.2439T>G (p.Tyr813Ter)
c.2415T>G (p.Tyr805Ter)
13g.108208866A>GCA484975252LIG4c.2202T>C (p.Tyr734=)
c.2403T>C (p.Tyr801=)
c.2439T>C (p.Tyr813=)
c.2415T>C (p.Tyr805=)
13g.108208866A>TCA388613273LIG4c.2202T>A (p.Tyr734Ter)
c.2403T>A (p.Tyr801Ter)
c.2439T>A (p.Tyr813Ter)
c.2415T>A (p.Tyr805Ter)
13g.108208867T>ACA388613274LIG4c.2201A>T (p.Tyr734Phe)
c.2402A>T (p.Tyr801Phe)
c.2438A>T (p.Tyr813Phe)
c.2414A>T (p.Tyr805Phe)
13g.108208867T>CCA388613277LIG4c.2201A>G (p.Tyr734Cys)
c.2402A>G (p.Tyr801Cys)
c.2438A>G (p.Tyr813Cys)
c.2414A>G (p.Tyr805Cys)
13g.108208867T>GCA388613276LIG4c.2201A>C (p.Tyr734Ser)
c.2402A>C (p.Tyr801Ser)
c.2438A>C (p.Tyr813Ser)
c.2414A>C (p.Tyr805Ser)
13g.108208868A=CA2117793954LIG4c.2200T= (p.Tyr734=)
c.2401T= (p.Tyr801=)
c.2437T= (p.Tyr813=)
c.2413T= (p.Tyr805=)
13g.108208868A>CCA7043512LIG4c.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
13g.108208868A>GCA388613280LIG4c.2200T>C (p.Tyr734His)
c.2401T>C (p.Tyr801His)
c.2437T>C (p.Tyr813His)
c.2413T>C (p.Tyr805His)
13g.108208868A>TCA388613281LIG4c.2200T>A (p.Tyr734Asn)
c.2401T>A (p.Tyr801Asn)
c.2437T>A (p.Tyr813Asn)
c.2413T>A (p.Tyr805Asn)
13g.108208869T>ACA388613283LIG4c.2199A>T (p.Glu733Asp)
c.2400A>T (p.Glu800Asp)
c.2436A>T (p.Glu812Asp)
c.2412A>T (p.Glu804Asp)
13g.108208869T>CCA484975259LIG4c.2199A>G (p.Glu733=)
c.2400A>G (p.Glu800=)
c.2436A>G (p.Glu812=)
c.2412A>G (p.Glu804=)
 gnomAD v4
13g.108208869T>GCA388613285LIG4c.2199A>C (p.Glu733Asp)
c.2400A>C (p.Glu800Asp)
c.2436A>C (p.Glu812Asp)
c.2412A>C (p.Glu804Asp)
13g.108208870T>ACA388613287LIG4c.2198A>T (p.Glu733Val)
c.2399A>T (p.Glu800Val)
c.2435A>T (p.Glu812Val)
c.2411A>T (p.Glu804Val)
13g.108208870T>CCA7043513LIG4c.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
13g.108208870T>GCA388613289LIG4c.2198A>C (p.Glu733Ala)
c.2399A>C (p.Glu800Ala)
c.2435A>C (p.Glu812Ala)
c.2411A>C (p.Glu804Ala)
13g.108208870T=CA2117793955LIG4c.2198A= (p.Glu733=)
c.2399A= (p.Glu800=)
c.2435A= (p.Glu812=)
c.2411A= (p.Glu804=)
13g.108208871C>ACA388613290LIG4c.2197G>T (p.Glu733Ter)
c.2398G>T (p.Glu800Ter)
c.2434G>T (p.Glu812Ter)
c.2410G>T (p.Glu804Ter)
13g.108208871C>GCA388613292LIG4c.2197G>C (p.Glu733Gln)
c.2398G>C (p.Glu800Gln)
c.2434G>C (p.Glu812Gln)
c.2410G>C (p.Glu804Gln)
13g.108208871C>TCA388613293LIG4c.2197G>A (p.Glu733Lys)
c.2398G>A (p.Glu800Lys)
c.2434G>A (p.Glu812Lys)
c.2410G>A (p.Glu804Lys)
13g.108208872T>ACA388613296LIG4c.2196A>T (p.Leu732Phe)
c.2397A>T (p.Leu799Phe)
c.2433A>T (p.Leu811Phe)
c.2409A>T (p.Leu803Phe)
13g.108208872T>CCA484975263LIG4c.2196A>G (p.Leu732=)
c.2397A>G (p.Leu799=)
c.2433A>G (p.Leu811=)
c.2409A>G (p.Leu803=)
13g.108208872T>GCA388613295LIG4c.2196A>C (p.Leu732Phe)
c.2397A>C (p.Leu799Phe)
c.2433A>C (p.Leu811Phe)
c.2409A>C (p.Leu803Phe)
13g.108208873A>CCA388613298LIG4c.2195T>G (p.Leu732Ter)
c.2396T>G (p.Leu799Ter)
c.2432T>G (p.Leu811Ter)
c.2408T>G (p.Leu803Ter)
13g.108208873A>GCA388613299LIG4c.2195T>C (p.Leu732Ser)
c.2396T>C (p.Leu799Ser)
c.2432T>C (p.Leu811Ser)
c.2408T>C (p.Leu803Ser)
13g.108208873A>TCA388613301LIG4c.2195T>A (p.Leu732Ter)
c.2396T>A (p.Leu799Ter)
c.2432T>A (p.Leu811Ter)
c.2408T>A (p.Leu803Ter)
13g.108208874A>CCA388613303LIG4c.2194T>G (p.Leu732Val)
c.2395T>G (p.Leu799Val)
c.2431T>G (p.Leu811Val)
c.2407T>G (p.Leu803Val)
 gnomAD v4
13g.108208874A>GCA484975267LIG4c.2194T>C (p.Leu732=)
c.2395T>C (p.Leu799=)
c.2431T>C (p.Leu811=)
c.2407T>C (p.Leu803=)
13g.108208874A>TCA388613304LIG4c.2194T>A (p.Leu732Ile)
c.2395T>A (p.Leu799Ile)
c.2431T>A (p.Leu811Ile)
c.2407T>A (p.Leu803Ile)
13g.108208875A>CCA388613306LIG4c.2193T>G (p.Asp731Glu)
c.2394T>G (p.Asp798Glu)
c.2430T>G (p.Asp810Glu)
c.2406T>G (p.Asp802Glu)
13g.108208875A>GCA484975270LIG4c.2193T>C (p.Asp731=)
c.2394T>C (p.Asp798=)
c.2430T>C (p.Asp810=)
c.2406T>C (p.Asp802=)
13g.108208875A>TCA388613308LIG4c.2193T>A (p.Asp731Glu)
c.2394T>A (p.Asp798Glu)
c.2430T>A (p.Asp810Glu)
c.2406T>A (p.Asp802Glu)

Number of alleles fetched