Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108208904G>ACA388613405LIG4c.2164C>T (p.Pro722Ser)
c.2365C>T (p.Pro789Ser)
c.2401C>T (p.Pro801Ser)
c.2377C>T (p.Pro793Ser)
 dbSNP
13g.108208904G>CCA388613406LIG4c.2164C>G (p.Pro722Ala)
c.2365C>G (p.Pro789Ala)
c.2401C>G (p.Pro801Ala)
c.2377C>G (p.Pro793Ala)
13g.108208904G=CA2117793968LIG4c.2164C= (p.Pro722=)
c.2365C= (p.Pro789=)
c.2401C= (p.Pro801=)
c.2377C= (p.Pro793=)
13g.108208904G>TCA388613407LIG4c.2164C>A (p.Pro722Thr)
c.2365C>A (p.Pro789Thr)
c.2401C>A (p.Pro801Thr)
c.2377C>A (p.Pro793Thr)
13g.108208905A>CCA484975322LIG4c.2163T>G (p.Thr721=)
c.2364T>G (p.Thr788=)
c.2400T>G (p.Thr800=)
c.2376T>G (p.Thr792=)
13g.108208905A>GCA484975323LIG4c.2163T>C (p.Thr721=)
c.2364T>C (p.Thr788=)
c.2400T>C (p.Thr800=)
c.2376T>C (p.Thr792=)
13g.108208905A>TCA484975324LIG4c.2163T>A (p.Thr721=)
c.2364T>A (p.Thr788=)
c.2400T>A (p.Thr800=)
c.2376T>A (p.Thr792=)
13g.108208906G>ACA388613409LIG4c.2162C>T (p.Thr721Ile)
c.2363C>T (p.Thr788Ile)
c.2399C>T (p.Thr800Ile)
c.2375C>T (p.Thr792Ile)
 dbSNP
13g.108208906G>CCA388613411LIG4c.2162C>G (p.Thr721Ser)
c.2363C>G (p.Thr788Ser)
c.2399C>G (p.Thr800Ser)
c.2375C>G (p.Thr792Ser)
 dbSNP gnomAD v2
13g.108208906G=CA2117793969LIG4c.2162C= (p.Thr721=)
c.2363C= (p.Thr788=)
c.2399C= (p.Thr800=)
c.2375C= (p.Thr792=)
13g.108208906G>TCA388613412LIG4c.2162C>A (p.Thr721Asn)
c.2363C>A (p.Thr788Asn)
c.2399C>A (p.Thr800Asn)
c.2375C>A (p.Thr792Asn)
13g.108208907T>ACA388613414LIG4c.2161A>T (p.Thr721Ser)
c.2362A>T (p.Thr788Ser)
c.2398A>T (p.Thr800Ser)
c.2374A>T (p.Thr792Ser)
13g.108208907T>CCA388613415LIG4c.2161A>G (p.Thr721Ala)
c.2362A>G (p.Thr788Ala)
c.2398A>G (p.Thr800Ala)
c.2374A>G (p.Thr792Ala)
13g.108208907T>GCA388613417LIG4c.2161A>C (p.Thr721Pro)
c.2362A>C (p.Thr788Pro)
c.2398A>C (p.Thr800Pro)
c.2374A>C (p.Thr792Pro)
13g.108208908C>ACA388613419LIG4c.2160G>T (p.Gln720His)
c.2361G>T (p.Gln787His)
c.2397G>T (p.Gln799His)
c.2373G>T (p.Gln791His)
13g.108208908C>GCA388613420LIG4c.2160G>C (p.Gln720His)
c.2361G>C (p.Gln787His)
c.2397G>C (p.Gln799His)
c.2373G>C (p.Gln791His)
13g.108208908C>TCA484975329LIG4c.2160G>A (p.Gln720=)
c.2361G>A (p.Gln787=)
c.2397G>A (p.Gln799=)
c.2373G>A (p.Gln791=)
13g.108208909T>ACA388613426LIG4c.2159A>T (p.Gln720Leu)
c.2360A>T (p.Gln787Leu)
c.2396A>T (p.Gln799Leu)
c.2372A>T (p.Gln791Leu)
13g.108208909T>CCA388613423LIG4c.2159A>G (p.Gln720Arg)
c.2360A>G (p.Gln787Arg)
c.2396A>G (p.Gln799Arg)
c.2372A>G (p.Gln791Arg)
13g.108208909T>GCA388613424LIG4c.2159A>C (p.Gln720Pro)
c.2360A>C (p.Gln787Pro)
c.2396A>C (p.Gln799Pro)
c.2372A>C (p.Gln791Pro)
 dbSNP gnomAD v2 gnomAD v4
13g.108208909T=CA2117793970LIG4c.2159A= (p.Gln720=)
c.2360A= (p.Gln787=)
c.2396A= (p.Gln799=)
c.2372A= (p.Gln791=)
13g.108208910G>ACA388613428LIG4c.2158C>T (p.Gln720Ter)
c.2359C>T (p.Gln787Ter)
c.2395C>T (p.Gln799Ter)
c.2371C>T (p.Gln791Ter)
 dbSNP gnomAD v3 gnomAD v4
13g.108208910G>CCA388613430LIG4c.2158C>G (p.Gln720Glu)
c.2359C>G (p.Gln787Glu)
c.2395C>G (p.Gln799Glu)
c.2371C>G (p.Gln791Glu)
13g.108208910G>TCA388613431LIG4c.2158C>A (p.Gln720Lys)
c.2359C>A (p.Gln787Lys)
c.2395C>A (p.Gln799Lys)
c.2371C>A (p.Gln791Lys)
13g.108208911C>ACA388613433LIG4c.2157G>T (p.Glu719Asp)
c.2358G>T (p.Glu786Asp)
c.2394G>T (p.Glu798Asp)
c.2370G>T (p.Glu790Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208911C=CA2117793971LIG4c.2157G= (p.Glu719=)
c.2358G= (p.Glu786=)
c.2394G= (p.Glu798=)
c.2370G= (p.Glu790=)
13g.108208911C>GCA388613434LIG4c.2157G>C (p.Glu719Asp)
c.2358G>C (p.Glu786Asp)
c.2394G>C (p.Glu798Asp)
c.2370G>C (p.Glu790Asp)
13g.108208911C>TCA256179452LIG4c.2157G>A (p.Glu719=)
c.2358G>A (p.Glu786=)
c.2394G>A (p.Glu798=)
c.2370G>A (p.Glu790=)
 dbSNP gnomAD v2 gnomAD v4
13g.108208912T>ACA388613436LIG4c.2156A>T (p.Glu719Val)
c.2357A>T (p.Glu786Val)
c.2393A>T (p.Glu798Val)
c.2369A>T (p.Glu790Val)
 gnomAD v4
13g.108208912T>CCA388613438LIG4c.2156A>G (p.Glu719Gly)
c.2357A>G (p.Glu786Gly)
c.2393A>G (p.Glu798Gly)
c.2369A>G (p.Glu790Gly)
13g.108208912T>GCA7043518LIG4c.2156A>C (p.Glu719Ala)
c.2357A>C (p.Glu786Ala)
c.2393A>C (p.Glu798Ala)
c.2369A>C (p.Glu790Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208912T=CA2117793972LIG4c.2156A= (p.Glu719=)
c.2357A= (p.Glu786=)
c.2393A= (p.Glu798=)
c.2369A= (p.Glu790=)
13g.108208913C>ACA388613440LIG4c.2155G>T (p.Glu719Ter)
c.2356G>T (p.Glu786Ter)
c.2392G>T (p.Glu798Ter)
c.2368G>T (p.Glu790Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208913C=CA2117793973LIG4c.2155G= (p.Glu719=)
c.2356G= (p.Glu786=)
c.2392G= (p.Glu798=)
c.2368G= (p.Glu790=)
13g.108208913C>GCA388613442LIG4c.2155G>C (p.Glu719Gln)
c.2356G>C (p.Glu786Gln)
c.2392G>C (p.Glu798Gln)
c.2368G>C (p.Glu790Gln)
13g.108208913C>TCA7043519LIG4c.2155G>A (p.Glu719Lys)
c.2356G>A (p.Glu786Lys)
c.2392G>A (p.Glu798Lys)
c.2368G>A (p.Glu790Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208914G>ACA7043520LIG4c.2154C>T (p.Asn718=)
c.2355C>T (p.Asn785=)
c.2391C>T (p.Asn797=)
c.2367C>T (p.Asn789=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208914G>CCA388613446LIG4c.2154C>G (p.Asn718Lys)
c.2355C>G (p.Asn785Lys)
c.2391C>G (p.Asn797Lys)
c.2367C>G (p.Asn789Lys)
13g.108208914G=CA2117793974LIG4c.2154C= (p.Asn718=)
c.2355C= (p.Asn785=)
c.2391C= (p.Asn797=)
c.2367C= (p.Asn789=)
13g.108208914G>TCA388613444LIG4c.2154C>A (p.Asn718Lys)
c.2355C>A (p.Asn785Lys)
c.2391C>A (p.Asn797Lys)
c.2367C>A (p.Asn789Lys)
13g.108208915T>ACA388613448LIG4c.2153A>T (p.Asn718Ile)
c.2354A>T (p.Asn785Ile)
c.2390A>T (p.Asn797Ile)
c.2366A>T (p.Asn789Ile)
13g.108208915T>CCA388613450LIG4c.2153A>G (p.Asn718Ser)
c.2354A>G (p.Asn785Ser)
c.2390A>G (p.Asn797Ser)
c.2366A>G (p.Asn789Ser)
 gnomAD v4
13g.108208915T>GCA388613451LIG4c.2153A>C (p.Asn718Thr)
c.2354A>C (p.Asn785Thr)
c.2390A>C (p.Asn797Thr)
c.2366A>C (p.Asn789Thr)
13g.108208916T>ACA388613453LIG4c.2152A>T (p.Asn718Tyr)
c.2353A>T (p.Asn785Tyr)
c.2389A>T (p.Asn797Tyr)
c.2365A>T (p.Asn789Tyr)
13g.108208916T>CCA388613455LIG4c.2152A>G (p.Asn718Asp)
c.2353A>G (p.Asn785Asp)
c.2389A>G (p.Asn797Asp)
c.2365A>G (p.Asn789Asp)
13g.108208916T>GCA388613456LIG4c.2152A>C (p.Asn718His)
c.2353A>C (p.Asn785His)
c.2389A>C (p.Asn797His)
c.2365A>C (p.Asn789His)
13g.108208917A=CA2117793975LIG4c.2151T= (p.Ser717=)
c.2352T= (p.Ser784=)
c.2388T= (p.Ser796=)
c.2364T= (p.Ser788=)
13g.108208917A>CCA484975340LIG4c.2151T>G (p.Ser717=)
c.2352T>G (p.Ser784=)
c.2388T>G (p.Ser796=)
c.2364T>G (p.Ser788=)
13g.108208917A>GCA484975343LIG4c.2151T>C (p.Ser717=)
c.2352T>C (p.Ser784=)
c.2388T>C (p.Ser796=)
c.2364T>C (p.Ser788=)
 gnomAD v4
13g.108208917A>TCA484975346LIG4c.2151T>A (p.Ser717=)
c.2352T>A (p.Ser784=)
c.2388T>A (p.Ser796=)
c.2364T>A (p.Ser788=)
 dbSNP
13g.108208918G>ACA388613460LIG4c.2150C>T (p.Ser717Phe)
c.2351C>T (p.Ser784Phe)
c.2387C>T (p.Ser796Phe)
c.2363C>T (p.Ser788Phe)
13g.108208918G>CCA388613458LIG4c.2150C>G (p.Ser717Cys)
c.2351C>G (p.Ser784Cys)
c.2387C>G (p.Ser796Cys)
c.2363C>G (p.Ser788Cys)
13g.108208918G>TCA388613459LIG4c.2150C>A (p.Ser717Tyr)
c.2351C>A (p.Ser784Tyr)
c.2387C>A (p.Ser796Tyr)
c.2363C>A (p.Ser788Tyr)
13g.108208919A=CA2117793976LIG4c.2149T= (p.Ser717=)
c.2350T= (p.Ser784=)
c.2386T= (p.Ser796=)
c.2362T= (p.Ser788=)
13g.108208919A>CCA388613461LIG4c.2149T>G (p.Ser717Ala)
c.2350T>G (p.Ser784Ala)
c.2386T>G (p.Ser796Ala)
c.2362T>G (p.Ser788Ala)
 dbSNP gnomAD v2 gnomAD v4
13g.108208919A>GCA388613462LIG4c.2149T>C (p.Ser717Pro)
c.2350T>C (p.Ser784Pro)
c.2386T>C (p.Ser796Pro)
c.2362T>C (p.Ser788Pro)
13g.108208919A>TCA388613463LIG4c.2149T>A (p.Ser717Thr)
c.2350T>A (p.Ser784Thr)
c.2386T>A (p.Ser796Thr)
c.2362T>A (p.Ser788Thr)
13g.108208920A>CCA388613464LIG4c.2148T>G (p.Asn716Lys)
c.2349T>G (p.Asn783Lys)
c.2385T>G (p.Asn795Lys)
c.2361T>G (p.Asn787Lys)
 gnomAD v4
13g.108208920A>GCA484975350LIG4c.2148T>C (p.Asn716=)
c.2349T>C (p.Asn783=)
c.2385T>C (p.Asn795=)
c.2361T>C (p.Asn787=)
13g.108208920A>TCA388613465LIG4c.2148T>A (p.Asn716Lys)
c.2349T>A (p.Asn783Lys)
c.2385T>A (p.Asn795Lys)
c.2361T>A (p.Asn787Lys)
13g.108208921T>ACA388613466LIG4c.2147A>T (p.Asn716Ile)
c.2348A>T (p.Asn783Ile)
c.2384A>T (p.Asn795Ile)
c.2360A>T (p.Asn787Ile)
13g.108208921T>CCA388613468LIG4c.2147A>G (p.Asn716Ser)
c.2348A>G (p.Asn783Ser)
c.2384A>G (p.Asn795Ser)
c.2360A>G (p.Asn787Ser)
13g.108208921T>GCA388613467LIG4c.2147A>C (p.Asn716Thr)
c.2348A>C (p.Asn783Thr)
c.2384A>C (p.Asn795Thr)
c.2360A>C (p.Asn787Thr)
13g.108208922T>ACA388613469LIG4c.2146A>T (p.Asn716Tyr)
c.2347A>T (p.Asn783Tyr)
c.2383A>T (p.Asn795Tyr)
c.2359A>T (p.Asn787Tyr)
13g.108208922T>CCA388613470LIG4c.2146A>G (p.Asn716Asp)
c.2347A>G (p.Asn783Asp)
c.2383A>G (p.Asn795Asp)
c.2359A>G (p.Asn787Asp)
13g.108208922T>GCA388613471LIG4c.2146A>C (p.Asn716His)
c.2347A>C (p.Asn783His)
c.2383A>C (p.Asn795His)
c.2359A>C (p.Asn787His)
13g.108208923T>ACA388613472LIG4c.2145A>T (p.Lys715Asn)
c.2346A>T (p.Lys782Asn)
c.2382A>T (p.Lys794Asn)
c.2358A>T (p.Lys786Asn)
13g.108208923T>CCA484975360LIG4c.2145A>G (p.Lys715=)
c.2346A>G (p.Lys782=)
c.2382A>G (p.Lys794=)
c.2358A>G (p.Lys786=)
13g.108208923T>GCA388613473LIG4c.2145A>C (p.Lys715Asn)
c.2346A>C (p.Lys782Asn)
c.2382A>C (p.Lys794Asn)
c.2358A>C (p.Lys786Asn)
13g.108208924T>ACA388613474LIG4c.2144A>T (p.Lys715Ile)
c.2345A>T (p.Lys782Ile)
c.2381A>T (p.Lys794Ile)
c.2357A>T (p.Lys786Ile)
13g.108208924T>CCA388613475LIG4c.2144A>G (p.Lys715Arg)
c.2345A>G (p.Lys782Arg)
c.2381A>G (p.Lys794Arg)
c.2357A>G (p.Lys786Arg)
13g.108208924T>GCA388613476LIG4c.2144A>C (p.Lys715Thr)
c.2345A>C (p.Lys782Thr)
c.2381A>C (p.Lys794Thr)
c.2357A>C (p.Lys786Thr)
13g.108208925T>ACA388613477LIG4c.2143A>T (p.Lys715Ter)
c.2344A>T (p.Lys782Ter)
c.2380A>T (p.Lys794Ter)
c.2356A>T (p.Lys786Ter)
13g.108208925T>CCA388613478LIG4c.2143A>G (p.Lys715Glu)
c.2344A>G (p.Lys782Glu)
c.2380A>G (p.Lys794Glu)
c.2356A>G (p.Lys786Glu)
13g.108208925T>GCA388613479LIG4c.2143A>C (p.Lys715Gln)
c.2344A>C (p.Lys782Gln)
c.2380A>C (p.Lys794Gln)
c.2356A>C (p.Lys786Gln)
13g.108208926A>CCA388613480LIG4c.2142T>G (p.Ile714Met)
c.2343T>G (p.Ile781Met)
c.2379T>G (p.Ile793Met)
c.2355T>G (p.Ile785Met)
13g.108208926A>GCA484975369LIG4c.2142T>C (p.Ile714=)
c.2343T>C (p.Ile781=)
c.2379T>C (p.Ile793=)
c.2355T>C (p.Ile785=)
13g.108208926A>TCA484975370LIG4c.2142T>A (p.Ile714=)
c.2343T>A (p.Ile781=)
c.2379T>A (p.Ile793=)
c.2355T>A (p.Ile785=)
13g.108208927A>CCA388613481LIG4c.2141T>G (p.Ile714Ser)
c.2342T>G (p.Ile781Ser)
c.2378T>G (p.Ile793Ser)
c.2354T>G (p.Ile785Ser)
13g.108208927A>GCA388613483LIG4c.2141T>C (p.Ile714Thr)
c.2342T>C (p.Ile781Thr)
c.2378T>C (p.Ile793Thr)
c.2354T>C (p.Ile785Thr)
13g.108208927A>TCA388613482LIG4c.2141T>A (p.Ile714Asn)
c.2342T>A (p.Ile781Asn)
c.2378T>A (p.Ile793Asn)
c.2354T>A (p.Ile785Asn)
13g.108208928T>ACA388613484LIG4c.2140A>T (p.Ile714Phe)
c.2341A>T (p.Ile781Phe)
c.2377A>T (p.Ile793Phe)
c.2353A>T (p.Ile785Phe)
13g.108208928T>CCA388613485LIG4c.2140A>G (p.Ile714Val)
c.2341A>G (p.Ile781Val)
c.2377A>G (p.Ile793Val)
c.2353A>G (p.Ile785Val)
 dbSNP
13g.108208928T>GCA388613486LIG4c.2140A>C (p.Ile714Leu)
c.2341A>C (p.Ile781Leu)
c.2377A>C (p.Ile793Leu)
c.2353A>C (p.Ile785Leu)
13g.108208929T>ACA484975372LIG4c.2139A>T (p.Gly713=)
c.2340A>T (p.Gly780=)
c.2376A>T (p.Gly792=)
c.2352A>T (p.Gly784=)
13g.108208929T>CCA484975374LIG4c.2139A>G (p.Gly713=)
c.2340A>G (p.Gly780=)
c.2376A>G (p.Gly792=)
c.2352A>G (p.Gly784=)
13g.108208929T>GCA484975376LIG4c.2139A>C (p.Gly713=)
c.2340A>C (p.Gly780=)
c.2376A>C (p.Gly792=)
c.2352A>C (p.Gly784=)
13g.108208930C>ACA256179487LIG4c.2138G>T (p.Gly713Val)
c.2339G>T (p.Gly780Val)
c.2375G>T (p.Gly792Val)
c.2351G>T (p.Gly784Val)
 dbSNP gnomAD v4
13g.108208930C=CA2117793977LIG4c.2138G= (p.Gly713=)
c.2339G= (p.Gly780=)
c.2375G= (p.Gly792=)
c.2351G= (p.Gly784=)
13g.108208930C>GCA388613487LIG4c.2138G>C (p.Gly713Ala)
c.2339G>C (p.Gly780Ala)
c.2375G>C (p.Gly792Ala)
c.2351G>C (p.Gly784Ala)
13g.108208930C>TCA256179493LIG4c.2138G>A (p.Gly713Glu)
c.2339G>A (p.Gly780Glu)
c.2375G>A (p.Gly792Glu)
c.2351G>A (p.Gly784Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208931C>ACA388613488LIG4c.2137G>T (p.Gly713Ter)
c.2338G>T (p.Gly780Ter)
c.2374G>T (p.Gly792Ter)
c.2350G>T (p.Gly784Ter)
13g.108208931C>GCA388613489LIG4c.2137G>C (p.Gly713Arg)
c.2338G>C (p.Gly780Arg)
c.2374G>C (p.Gly792Arg)
c.2350G>C (p.Gly784Arg)
13g.108208931C>TCA388613490LIG4c.2137G>A (p.Gly713Arg)
c.2338G>A (p.Gly780Arg)
c.2374G>A (p.Gly792Arg)
c.2350G>A (p.Gly784Arg)
13g.108208932T>ACA484975379LIG4c.2136A>T (p.Ser712=)
c.2337A>T (p.Ser779=)
c.2373A>T (p.Ser791=)
c.2349A>T (p.Ser783=)
13g.108208932T>CCA484975380LIG4c.2136A>G (p.Ser712=)
c.2337A>G (p.Ser779=)
c.2373A>G (p.Ser791=)
c.2349A>G (p.Ser783=)
13g.108208932T>GCA484975383LIG4c.2136A>C (p.Ser712=)
c.2337A>C (p.Ser779=)
c.2373A>C (p.Ser791=)
c.2349A>C (p.Ser783=)
13g.108208933delCA2580087241LIG4c.2135del (p.Ser712Ter)
c.2336del (p.Ser779Ter)
c.2372del (p.Ser791Ter)
c.2348del (p.Ser783Ter)
 ClinVar
13g.108208933G>ACA388613491LIG4c.2135C>T (p.Ser712Leu)
c.2336C>T (p.Ser779Leu)
c.2372C>T (p.Ser791Leu)
c.2348C>T (p.Ser783Leu)
13g.108208933G>CCA388613492LIG4c.2135C>G (p.Ser712Ter)
c.2336C>G (p.Ser779Ter)
c.2372C>G (p.Ser791Ter)
c.2348C>G (p.Ser783Ter)
13g.108208933G>TCA388613493LIG4c.2135C>A (p.Ser712Ter)
c.2336C>A (p.Ser779Ter)
c.2372C>A (p.Ser791Ter)
c.2348C>A (p.Ser783Ter)
13g.108208934A=CA2117793978LIG4c.2134T= (p.Ser712=)
c.2335T= (p.Ser779=)
c.2371T= (p.Ser791=)
c.2347T= (p.Ser783=)
13g.108208934A>CCA388613496LIG4c.2134T>G (p.Ser712Ala)
c.2335T>G (p.Ser779Ala)
c.2371T>G (p.Ser791Ala)
c.2347T>G (p.Ser783Ala)
13g.108208934A>GCA388613494LIG4c.2134T>C (p.Ser712Pro)
c.2335T>C (p.Ser779Pro)
c.2371T>C (p.Ser791Pro)
c.2347T>C (p.Ser783Pro)
13g.108208934A>TCA388613495LIG4c.2134T>A (p.Ser712Thr)
c.2335T>A (p.Ser779Thr)
c.2371T>A (p.Ser791Thr)
c.2347T>A (p.Ser783Thr)
13g.108208935G>ACA484975390LIG4c.2133C>T (p.Phe711=)
c.2334C>T (p.Phe778=)
c.2370C>T (p.Phe790=)
c.2346C>T (p.Phe782=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208935G>CCA388613497LIG4c.2133C>G (p.Phe711Leu)
c.2334C>G (p.Phe778Leu)
c.2370C>G (p.Phe790Leu)
c.2346C>G (p.Phe782Leu)
13g.108208935G=CA2117793980LIG4c.2133C= (p.Phe711=)
c.2334C= (p.Phe778=)
c.2370C= (p.Phe790=)
c.2346C= (p.Phe782=)
13g.108208935G>TCA388613498LIG4c.2133C>A (p.Phe711Leu)
c.2334C>A (p.Phe778Leu)
c.2370C>A (p.Phe790Leu)
c.2346C>A (p.Phe782Leu)
13g.108208935_108208938dupCA2117793979LIG4c.2130_2133dup (p.Ser712IlefsTer5)
c.2331_2334dup (p.Ser779IlefsTer5)
c.2367_2370dup (p.Ser791IlefsTer5)
c.2343_2346dup (p.Ser783IlefsTer5)
 dbSNP
13g.108208936A>CCA388613499LIG4c.2132T>G (p.Phe711Cys)
c.2333T>G (p.Phe778Cys)
c.2369T>G (p.Phe790Cys)
c.2345T>G (p.Phe782Cys)
13g.108208936A>GCA388613500LIG4c.2132T>C (p.Phe711Ser)
c.2333T>C (p.Phe778Ser)
c.2369T>C (p.Phe790Ser)
c.2345T>C (p.Phe782Ser)
 gnomAD v4
13g.108208936A>TCA388613501LIG4c.2132T>A (p.Phe711Tyr)
c.2333T>A (p.Phe778Tyr)
c.2369T>A (p.Phe790Tyr)
c.2345T>A (p.Phe782Tyr)
13g.108208937A=CA2117793981LIG4c.2131T= (p.Phe711=)
c.2332T= (p.Phe778=)
c.2368T= (p.Phe790=)
c.2344T= (p.Phe782=)
13g.108208937A>CCA256179528LIG4c.2131T>G (p.Phe711Val)
c.2332T>G (p.Phe778Val)
c.2368T>G (p.Phe790Val)
c.2344T>G (p.Phe782Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208937A>GCA7043521LIG4c.2131T>C (p.Phe711Leu)
c.2332T>C (p.Phe778Leu)
c.2368T>C (p.Phe790Leu)
c.2344T>C (p.Phe782Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208937A>TCA388613502LIG4c.2131T>A (p.Phe711Ile)
c.2332T>A (p.Phe778Ile)
c.2368T>A (p.Phe790Ile)
c.2344T>A (p.Phe782Ile)
13g.108208937_108208953delCA2739277736LIG4c.2115_2131del (p.Gln706LeufsTer4)
c.2316_2332del (p.Gln773LeufsTer4)
c.2352_2368del (p.Gln785LeufsTer4)
c.2328_2344del (p.Gln777LeufsTer4)
 ClinVar
13g.108208938T>ACA484975395LIG4c.2130A>T (p.Val710=)
c.2331A>T (p.Val777=)
c.2367A>T (p.Val789=)
c.2343A>T (p.Val781=)
13g.108208938T>CCA7043522LIG4c.2130A>G (p.Val710=)
c.2331A>G (p.Val777=)
c.2367A>G (p.Val789=)
c.2343A>G (p.Val781=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208938T>GCA484975397LIG4c.2130A>C (p.Val710=)
c.2331A>C (p.Val777=)
c.2367A>C (p.Val789=)
c.2343A>C (p.Val781=)
13g.108208938T=CA2117793982LIG4c.2130A= (p.Val710=)
c.2331A= (p.Val777=)
c.2367A= (p.Val789=)
c.2343A= (p.Val781=)
13g.108208939A>CCA388613503LIG4c.2129T>G (p.Val710Gly)
c.2330T>G (p.Val777Gly)
c.2366T>G (p.Val789Gly)
c.2342T>G (p.Val781Gly)
13g.108208939A>GCA388613504LIG4c.2129T>C (p.Val710Ala)
c.2330T>C (p.Val777Ala)
c.2366T>C (p.Val789Ala)
c.2342T>C (p.Val781Ala)
13g.108208939A>TCA388613505LIG4c.2129T>A (p.Val710Glu)
c.2330T>A (p.Val777Glu)
c.2366T>A (p.Val789Glu)
c.2342T>A (p.Val781Glu)
13g.108208940C>ACA388613507LIG4c.2128G>T (p.Val710Leu)
c.2329G>T (p.Val777Leu)
c.2365G>T (p.Val789Leu)
c.2341G>T (p.Val781Leu)
13g.108208940C>GCA388613508LIG4c.2128G>C (p.Val710Leu)
c.2329G>C (p.Val777Leu)
c.2365G>C (p.Val789Leu)
c.2341G>C (p.Val781Leu)
13g.108208940C>TCA388613506LIG4c.2128G>A (p.Val710Ile)
c.2329G>A (p.Val777Ile)
c.2365G>A (p.Val789Ile)
c.2341G>A (p.Val781Ile)
13g.108208941T>ACA388613510LIG4c.2127A>T (p.Glu709Asp)
c.2328A>T (p.Glu776Asp)
c.2364A>T (p.Glu788Asp)
c.2340A>T (p.Glu780Asp)
 COSMIC
13g.108208941T>CCA484975402LIG4c.2127A>G (p.Glu709=)
c.2328A>G (p.Glu776=)
c.2364A>G (p.Glu788=)
c.2340A>G (p.Glu780=)
13g.108208941T>GCA388613509LIG4c.2127A>C (p.Glu709Asp)
c.2328A>C (p.Glu776Asp)
c.2364A>C (p.Glu788Asp)
c.2340A>C (p.Glu780Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208941T=CA2117793983LIG4c.2127A= (p.Glu709=)
c.2328A= (p.Glu776=)
c.2364A= (p.Glu788=)
c.2340A= (p.Glu780=)
13g.108208942T>ACA388613513LIG4c.2126A>T (p.Glu709Val)
c.2327A>T (p.Glu776Val)
c.2363A>T (p.Glu788Val)
c.2339A>T (p.Glu780Val)
13g.108208942T>CCA388613511LIG4c.2126A>G (p.Glu709Gly)
c.2327A>G (p.Glu776Gly)
c.2363A>G (p.Glu788Gly)
c.2339A>G (p.Glu780Gly)
13g.108208942T>GCA388613512LIG4c.2126A>C (p.Glu709Ala)
c.2327A>C (p.Glu776Ala)
c.2363A>C (p.Glu788Ala)
c.2339A>C (p.Glu780Ala)
13g.108208942_108208943delinsTCCA2117793984LIG4c.2125_2126delinsGA (p.Glu709=)
c.2326_2327delinsGA (p.Glu776=)
c.2362_2363delinsGA (p.Glu788=)
c.2338_2339delinsGA (p.Glu780=)
13g.108208943C>ACA388613514LIG4c.2125G>T (p.Glu709Ter)
c.2326G>T (p.Glu776Ter)
c.2362G>T (p.Glu788Ter)
c.2338G>T (p.Glu780Ter)
13g.108208943C>GCA388613515LIG4c.2125G>C (p.Glu709Gln)
c.2326G>C (p.Glu776Gln)
c.2362G>C (p.Glu788Gln)
c.2338G>C (p.Glu780Gln)
 COSMIC
13g.108208943C>TCA388613516LIG4c.2125G>A (p.Glu709Lys)
c.2326G>A (p.Glu776Lys)
c.2362G>A (p.Glu788Lys)
c.2338G>A (p.Glu780Lys)
13g.108208944delCA7043523LIG4c.2125del (p.Glu709LysfsTer20)
c.2326del (p.Glu776LysfsTer20)
c.2362del (p.Glu788LysfsTer20)
c.2338del (p.Glu780LysfsTer20)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208944C>ACA388613518LIG4c.2124G>T (p.Lys708Asn)
c.2325G>T (p.Lys775Asn)
c.2361G>T (p.Lys787Asn)
c.2337G>T (p.Lys779Asn)
13g.108208944C>GCA388613517LIG4c.2124G>C (p.Lys708Asn)
c.2325G>C (p.Lys775Asn)
c.2361G>C (p.Lys787Asn)
c.2337G>C (p.Lys779Asn)
13g.108208944C>TCA484975410LIG4c.2124G>A (p.Lys708=)
c.2325G>A (p.Lys775=)
c.2361G>A (p.Lys787=)
c.2337G>A (p.Lys779=)
13g.108208945T>ACA388613519LIG4c.2123A>T (p.Lys708Met)
c.2324A>T (p.Lys775Met)
c.2360A>T (p.Lys787Met)
c.2336A>T (p.Lys779Met)
 COSMIC
13g.108208945T>CCA388613520LIG4c.2123A>G (p.Lys708Arg)
c.2324A>G (p.Lys775Arg)
c.2360A>G (p.Lys787Arg)
c.2336A>G (p.Lys779Arg)
13g.108208945T>GCA388613521LIG4c.2123A>C (p.Lys708Thr)
c.2324A>C (p.Lys775Thr)
c.2360A>C (p.Lys787Thr)
c.2336A>C (p.Lys779Thr)
13g.108208946T>ACA388613522LIG4c.2122A>T (p.Lys708Ter)
c.2323A>T (p.Lys775Ter)
c.2359A>T (p.Lys787Ter)
c.2335A>T (p.Lys779Ter)
13g.108208946T>CCA388613523LIG4c.2122A>G (p.Lys708Glu)
c.2323A>G (p.Lys775Glu)
c.2359A>G (p.Lys787Glu)
c.2335A>G (p.Lys779Glu)
13g.108208946T>GCA388613524LIG4c.2122A>C (p.Lys708Gln)
c.2323A>C (p.Lys775Gln)
c.2359A>C (p.Lys787Gln)
c.2335A>C (p.Lys779Gln)
13g.108208947C>ACA484975415LIG4c.2121G>T (p.Leu707=)
c.2322G>T (p.Leu774=)
c.2358G>T (p.Leu786=)
c.2334G>T (p.Leu778=)
13g.108208947C>GCA484975416LIG4c.2121G>C (p.Leu707=)
c.2322G>C (p.Leu774=)
c.2358G>C (p.Leu786=)
c.2334G>C (p.Leu778=)
13g.108208947C>TCA484975418LIG4c.2121G>A (p.Leu707=)
c.2322G>A (p.Leu774=)
c.2358G>A (p.Leu786=)
c.2334G>A (p.Leu778=)
 gnomAD v4
13g.108208948A=CA2117793985LIG4c.2120T= (p.Leu707=)
c.2321T= (p.Leu774=)
c.2357T= (p.Leu786=)
c.2333T= (p.Leu778=)
13g.108208948A>CCA388613525LIG4c.2120T>G (p.Leu707Arg)
c.2321T>G (p.Leu774Arg)
c.2357T>G (p.Leu786Arg)
c.2333T>G (p.Leu778Arg)
13g.108208948A>GCA16609403LIG4c.2120T>C (p.Leu707Pro)
c.2321T>C (p.Leu774Pro)
c.2357T>C (p.Leu786Pro)
c.2333T>C (p.Leu778Pro)
 ClinVar dbSNP gnomAD v4
13g.108208948A>TCA388613526LIG4c.2120T>A (p.Leu707Gln)
c.2321T>A (p.Leu774Gln)
c.2357T>A (p.Leu786Gln)
c.2333T>A (p.Leu778Gln)
13g.108208949G>ACA256179578LIG4c.2119C>T (p.Leu707=)
c.2320C>T (p.Leu774=)
c.2356C>T (p.Leu786=)
c.2332C>T (p.Leu778=)
 ClinVar dbSNP
13g.108208949G>CCA7043524LIG4c.2119C>G (p.Leu707Val)
c.2320C>G (p.Leu774Val)
c.2356C>G (p.Leu786Val)
c.2332C>G (p.Leu778Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208949G=CA2117793986LIG4c.2119C= (p.Leu707=)
c.2320C= (p.Leu774=)
c.2356C= (p.Leu786=)
c.2332C= (p.Leu778=)
13g.108208949G>TCA388613527LIG4c.2119C>A (p.Leu707Met)
c.2320C>A (p.Leu774Met)
c.2356C>A (p.Leu786Met)
c.2332C>A (p.Leu778Met)
13g.108208950T>ACA388613528LIG4c.2118A>T (p.Gln706His)
c.2319A>T (p.Gln773His)
c.2355A>T (p.Gln785His)
c.2331A>T (p.Gln777His)
13g.108208950T>CCA484975421LIG4c.2118A>G (p.Gln706=)
c.2319A>G (p.Gln773=)
c.2355A>G (p.Gln785=)
c.2331A>G (p.Gln777=)
 ClinVar dbSNP gnomAD v4
13g.108208950T>GCA388613529LIG4c.2118A>C (p.Gln706His)
c.2319A>C (p.Gln773His)
c.2355A>C (p.Gln785His)
c.2331A>C (p.Gln777His)
13g.108208950T=CA2117793987LIG4c.2118A= (p.Gln706=)
c.2319A= (p.Gln773=)
c.2355A= (p.Gln785=)
c.2331A= (p.Gln777=)
13g.108208951T>ACA388613530LIG4c.2117A>T (p.Gln706Leu)
c.2318A>T (p.Gln773Leu)
c.2354A>T (p.Gln785Leu)
c.2330A>T (p.Gln777Leu)
13g.108208951T>CCA388613531LIG4c.2117A>G (p.Gln706Arg)
c.2318A>G (p.Gln773Arg)
c.2354A>G (p.Gln785Arg)
c.2330A>G (p.Gln777Arg)
13g.108208951T>GCA388613532LIG4c.2117A>C (p.Gln706Pro)
c.2318A>C (p.Gln773Pro)
c.2354A>C (p.Gln785Pro)
c.2330A>C (p.Gln777Pro)
13g.108208952G>ACA388613533LIG4c.2116C>T (p.Gln706Ter)
c.2317C>T (p.Gln773Ter)
c.2353C>T (p.Gln785Ter)
c.2329C>T (p.Gln777Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108208952G>CCA388613534LIG4c.2116C>G (p.Gln706Glu)
c.2317C>G (p.Gln773Glu)
c.2353C>G (p.Gln785Glu)
c.2329C>G (p.Gln777Glu)
13g.108208952G=CA2117793988LIG4c.2116C= (p.Gln706=)
c.2317C= (p.Gln773=)
c.2353C= (p.Gln785=)
c.2329C= (p.Gln777=)
13g.108208952G>TCA388613535LIG4c.2116C>A (p.Gln706Lys)
c.2317C>A (p.Gln773Lys)
c.2353C>A (p.Gln785Lys)
c.2329C>A (p.Gln777Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108208953G>ACA256179613LIG4c.2115C>T (p.Asn705=)
c.2316C>T (p.Asn772=)
c.2352C>T (p.Asn784=)
c.2328C>T (p.Asn776=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208953G>CCA256179621LIG4c.2115C>G (p.Asn705Lys)
c.2316C>G (p.Asn772Lys)
c.2352C>G (p.Asn784Lys)
c.2328C>G (p.Asn776Lys)
 dbSNP gnomAD v3 gnomAD v4
13g.108208953G=CA2117793989LIG4c.2115C= (p.Asn705=)
c.2316C= (p.Asn772=)
c.2352C= (p.Asn784=)
c.2328C= (p.Asn776=)
13g.108208953G>TCA388613536LIG4c.2115C>A (p.Asn705Lys)
c.2316C>A (p.Asn772Lys)
c.2352C>A (p.Asn784Lys)
c.2328C>A (p.Asn776Lys)
 gnomAD v4
13g.108208954T>ACA388613537LIG4c.2114A>T (p.Asn705Ile)
c.2315A>T (p.Asn772Ile)
c.2351A>T (p.Asn784Ile)
c.2327A>T (p.Asn776Ile)
13g.108208954T>CCA388613538LIG4c.2114A>G (p.Asn705Ser)
c.2315A>G (p.Asn772Ser)
c.2351A>G (p.Asn784Ser)
c.2327A>G (p.Asn776Ser)
13g.108208954T>GCA388613539LIG4c.2114A>C (p.Asn705Thr)
c.2315A>C (p.Asn772Thr)
c.2351A>C (p.Asn784Thr)
c.2327A>C (p.Asn776Thr)
13g.108208955T>ACA7043525LIG4c.2113A>T (p.Asn705Tyr)
c.2314A>T (p.Asn772Tyr)
c.2350A>T (p.Asn784Tyr)
c.2326A>T (p.Asn776Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208955T>CCA388613540LIG4c.2113A>G (p.Asn705Asp)
c.2314A>G (p.Asn772Asp)
c.2350A>G (p.Asn784Asp)
c.2326A>G (p.Asn776Asp)
13g.108208955T>GCA388613541LIG4c.2113A>C (p.Asn705His)
c.2314A>C (p.Asn772His)
c.2350A>C (p.Asn784His)
c.2326A>C (p.Asn776His)
13g.108208955T=CA2117793990LIG4c.2113A= (p.Asn705=)
c.2314A= (p.Asn772=)
c.2350A= (p.Asn784=)
c.2326A= (p.Asn776=)
13g.108208956C>ACA388613542LIG4c.2112G>T (p.Leu704Phe)
c.2313G>T (p.Leu771Phe)
c.2349G>T (p.Leu783Phe)
c.2325G>T (p.Leu775Phe)
13g.108208956C>GCA388613543LIG4c.2112G>C (p.Leu704Phe)
c.2313G>C (p.Leu771Phe)
c.2349G>C (p.Leu783Phe)
c.2325G>C (p.Leu775Phe)
 gnomAD v4
13g.108208956C>TCA484975429LIG4c.2112G>A (p.Leu704=)
c.2313G>A (p.Leu771=)
c.2349G>A (p.Leu783=)
c.2325G>A (p.Leu775=)
13g.108208957A>CCA388613544LIG4c.2111T>G (p.Leu704Trp)
c.2312T>G (p.Leu771Trp)
c.2348T>G (p.Leu783Trp)
c.2324T>G (p.Leu775Trp)
13g.108208957A>GCA388613545LIG4c.2111T>C (p.Leu704Ser)
c.2312T>C (p.Leu771Ser)
c.2348T>C (p.Leu783Ser)
c.2324T>C (p.Leu775Ser)
13g.108208957A>TCA388613546LIG4c.2111T>A (p.Leu704Ter)
c.2312T>A (p.Leu771Ter)
c.2348T>A (p.Leu783Ter)
c.2324T>A (p.Leu775Ter)
13g.108208958A>CCA388613547LIG4c.2110T>G (p.Leu704Val)
c.2311T>G (p.Leu771Val)
c.2347T>G (p.Leu783Val)
c.2323T>G (p.Leu775Val)
13g.108208958A>GCA484975436LIG4c.2110T>C (p.Leu704=)
c.2311T>C (p.Leu771=)
c.2347T>C (p.Leu783=)
c.2323T>C (p.Leu775=)
13g.108208958A>TCA388613548LIG4c.2110T>A (p.Leu704Met)
c.2311T>A (p.Leu771Met)
c.2347T>A (p.Leu783Met)
c.2323T>A (p.Leu775Met)
13g.108208959G>ACA7043526LIG4c.2109C>T (p.Asp703=)
c.2310C>T (p.Asp770=)
c.2346C>T (p.Asp782=)
c.2322C>T (p.Asp774=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208959G>CCA388613549LIG4c.2109C>G (p.Asp703Glu)
c.2310C>G (p.Asp770Glu)
c.2346C>G (p.Asp782Glu)
c.2322C>G (p.Asp774Glu)
13g.108208959G=CA2117793991LIG4c.2109C= (p.Asp703=)
c.2310C= (p.Asp770=)
c.2346C= (p.Asp782=)
c.2322C= (p.Asp774=)
13g.108208959G>TCA388613550LIG4c.2109C>A (p.Asp703Glu)
c.2310C>A (p.Asp770Glu)
c.2346C>A (p.Asp782Glu)
c.2322C>A (p.Asp774Glu)
13g.108208960T>ACA388613551LIG4c.2108A>T (p.Asp703Val)
c.2309A>T (p.Asp770Val)
c.2345A>T (p.Asp782Val)
c.2321A>T (p.Asp774Val)
13g.108208960T>CCA388613552LIG4c.2108A>G (p.Asp703Gly)
c.2309A>G (p.Asp770Gly)
c.2345A>G (p.Asp782Gly)
c.2321A>G (p.Asp774Gly)
13g.108208960T>GCA388613553LIG4c.2108A>C (p.Asp703Ala)
c.2309A>C (p.Asp770Ala)
c.2345A>C (p.Asp782Ala)
c.2321A>C (p.Asp774Ala)
13g.108208961C>ACA388613554LIG4c.2107G>T (p.Asp703Tyr)
c.2308G>T (p.Asp770Tyr)
c.2344G>T (p.Asp782Tyr)
c.2320G>T (p.Asp774Tyr)
13g.108208961C>GCA388613555LIG4c.2107G>C (p.Asp703His)
c.2308G>C (p.Asp770His)
c.2344G>C (p.Asp782His)
c.2320G>C (p.Asp774His)
13g.108208961C>TCA388613556LIG4c.2107G>A (p.Asp703Asn)
c.2308G>A (p.Asp770Asn)
c.2344G>A (p.Asp782Asn)
c.2320G>A (p.Asp774Asn)
13g.108208962T>ACA484975444LIG4c.2106A>T (p.Thr702=)
c.2307A>T (p.Thr769=)
c.2343A>T (p.Thr781=)
c.2319A>T (p.Thr773=)
13g.108208962T>CCA484975449LIG4c.2106A>G (p.Thr702=)
c.2307A>G (p.Thr769=)
c.2343A>G (p.Thr781=)
c.2319A>G (p.Thr773=)
13g.108208962T>GCA484975448LIG4c.2106A>C (p.Thr702=)
c.2307A>C (p.Thr769=)
c.2343A>C (p.Thr781=)
c.2319A>C (p.Thr773=)
13g.108208963G>ACA7043527LIG4c.2105C>T (p.Thr702Ile)
c.2306C>T (p.Thr769Ile)
c.2342C>T (p.Thr781Ile)
c.2318C>T (p.Thr773Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108208963G>CCA388613557LIG4c.2105C>G (p.Thr702Arg)
c.2306C>G (p.Thr769Arg)
c.2342C>G (p.Thr781Arg)
c.2318C>G (p.Thr773Arg)
13g.108208963G=CA2117793992LIG4c.2105C= (p.Thr702=)
c.2306C= (p.Thr769=)
c.2342C= (p.Thr781=)
c.2318C= (p.Thr773=)
13g.108208963G>TCA388613558LIG4c.2105C>A (p.Thr702Lys)
c.2306C>A (p.Thr769Lys)
c.2342C>A (p.Thr781Lys)
c.2318C>A (p.Thr773Lys)
 gnomAD v4
13g.108208964T>ACA388613559LIG4c.2104A>T (p.Thr702Ser)
c.2305A>T (p.Thr769Ser)
c.2341A>T (p.Thr781Ser)
c.2317A>T (p.Thr773Ser)
13g.108208964T>CCA7043528LIG4c.2104A>G (p.Thr702Ala)
c.2305A>G (p.Thr769Ala)
c.2341A>G (p.Thr781Ala)
c.2317A>G (p.Thr773Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
13g.108208964T>GCA388613560LIG4c.2104A>C (p.Thr702Pro)
c.2305A>C (p.Thr769Pro)
c.2341A>C (p.Thr781Pro)
c.2317A>C (p.Thr773Pro)
13g.108208964T=CA2117793993LIG4c.2104A= (p.Thr702=)
c.2305A= (p.Thr769=)
c.2341A= (p.Thr781=)
c.2317A= (p.Thr773=)
13g.108208964dupCA916082384LIG4c.2104dup (p.Thr702AsnfsTer14)
c.2305dup (p.Thr769AsnfsTer14)
c.2341dup (p.Thr781AsnfsTer14)
c.2317dup (p.Thr773AsnfsTer14)
 ClinVar dbSNP
13g.108208965A=CA2117793994LIG4c.2103T= (p.Asp701=)
c.2304T= (p.Asp768=)
c.2340T= (p.Asp780=)
c.2316T= (p.Asp772=)
13g.108208965A>CCA256179676LIG4c.2103T>G (p.Asp701Glu)
c.2304T>G (p.Asp768Glu)
c.2340T>G (p.Asp780Glu)
c.2316T>G (p.Asp772Glu)
 dbSNP gnomAD v2 gnomAD v4
13g.108208965A>GCA484974935LIG4c.2103T>C (p.Asp701=)
c.2304T>C (p.Asp768=)
c.2340T>C (p.Asp780=)
c.2316T>C (p.Asp772=)
13g.108208965A>TCA388613561LIG4c.2103T>A (p.Asp701Glu)
c.2304T>A (p.Asp768Glu)
c.2340T>A (p.Asp780Glu)
c.2316T>A (p.Asp772Glu)
13g.108208966T>ACA388613562LIG4c.2102A>T (p.Asp701Val)
c.2303A>T (p.Asp768Val)
c.2339A>T (p.Asp780Val)
c.2315A>T (p.Asp772Val)
13g.108208966T>CCA388613564LIG4c.2102A>G (p.Asp701Gly)
c.2303A>G (p.Asp768Gly)
c.2339A>G (p.Asp780Gly)
c.2315A>G (p.Asp772Gly)
13g.108208966T>GCA388613563LIG4c.2102A>C (p.Asp701Ala)
c.2303A>C (p.Asp768Ala)
c.2339A>C (p.Asp780Ala)
c.2315A>C (p.Asp772Ala)
 gnomAD v4
13g.108208967C>ACA388613565LIG4c.2101G>T (p.Asp701Tyr)
c.2302G>T (p.Asp768Tyr)
c.2338G>T (p.Asp780Tyr)
c.2314G>T (p.Asp772Tyr)
13g.108208967C>GCA388613566LIG4c.2101G>C (p.Asp701His)
c.2302G>C (p.Asp768His)
c.2338G>C (p.Asp780His)
c.2314G>C (p.Asp772His)
 gnomAD v4
13g.108208967C>TCA388613567LIG4c.2101G>A (p.Asp701Asn)
c.2302G>A (p.Asp768Asn)
c.2338G>A (p.Asp780Asn)
c.2314G>A (p.Asp772Asn)
13g.108208968A=CA2117793995LIG4c.2100T= (p.Ile700=)
c.2301T= (p.Ile767=)
c.2337T= (p.Ile779=)
c.2313T= (p.Ile771=)
13g.108208968A>CCA388613568LIG4c.2100T>G (p.Ile700Met)
c.2301T>G (p.Ile767Met)
c.2337T>G (p.Ile779Met)
c.2313T>G (p.Ile771Met)
 dbSNP gnomAD v3 gnomAD v4
13g.108208968A>GCA484974937LIG4c.2100T>C (p.Ile700=)
c.2301T>C (p.Ile767=)
c.2337T>C (p.Ile779=)
c.2313T>C (p.Ile771=)
13g.108208968A>TCA484974938LIG4c.2100T>A (p.Ile700=)
c.2301T>A (p.Ile767=)
c.2337T>A (p.Ile779=)
c.2313T>A (p.Ile771=)
13g.108208969A=CA2117793996LIG4c.2099T= (p.Ile700=)
c.2300T= (p.Ile767=)
c.2336T= (p.Ile779=)
c.2312T= (p.Ile771=)
13g.108208969A>CCA388613569LIG4c.2099T>G (p.Ile700Ser)
c.2300T>G (p.Ile767Ser)
c.2336T>G (p.Ile779Ser)
c.2312T>G (p.Ile771Ser)
13g.108208969A>GCA7043529LIG4c.2099T>C (p.Ile700Thr)
c.2300T>C (p.Ile767Thr)
c.2336T>C (p.Ile779Thr)
c.2312T>C (p.Ile771Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208969A>TCA388613570LIG4c.2099T>A (p.Ile700Asn)
c.2300T>A (p.Ile767Asn)
c.2336T>A (p.Ile779Asn)
c.2312T>A (p.Ile771Asn)
 dbSNP gnomAD v2 gnomAD v4
13g.108208970T>ACA388613571LIG4c.2098A>T (p.Ile700Phe)
c.2299A>T (p.Ile767Phe)
c.2335A>T (p.Ile779Phe)
c.2311A>T (p.Ile771Phe)
13g.108208970T>CCA7043530LIG4c.2098A>G (p.Ile700Val)
c.2299A>G (p.Ile767Val)
c.2335A>G (p.Ile779Val)
c.2311A>G (p.Ile771Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208970T>GCA388613572LIG4c.2098A>C (p.Ile700Leu)
c.2299A>C (p.Ile767Leu)
c.2335A>C (p.Ile779Leu)
c.2311A>C (p.Ile771Leu)
13g.108208970T=CA2117793997LIG4c.2098A= (p.Ile700=)
c.2299A= (p.Ile767=)
c.2335A= (p.Ile779=)
c.2311A= (p.Ile771=)
13g.108208971G>ACA484974942LIG4c.2097C>T (p.Phe699=)
c.2298C>T (p.Phe766=)
c.2334C>T (p.Phe778=)
c.2310C>T (p.Phe770=)
13g.108208971G>CCA388613573LIG4c.2097C>G (p.Phe699Leu)
c.2298C>G (p.Phe766Leu)
c.2334C>G (p.Phe778Leu)
c.2310C>G (p.Phe770Leu)
 gnomAD v4
13g.108208971G>TCA388613574LIG4c.2097C>A (p.Phe699Leu)
c.2298C>A (p.Phe766Leu)
c.2334C>A (p.Phe778Leu)
c.2310C>A (p.Phe770Leu)
13g.108208972A>CCA388613577LIG4c.2096T>G (p.Phe699Cys)
c.2297T>G (p.Phe766Cys)
c.2333T>G (p.Phe778Cys)
c.2309T>G (p.Phe770Cys)
13g.108208972A>GCA388613575LIG4c.2096T>C (p.Phe699Ser)
c.2297T>C (p.Phe766Ser)
c.2333T>C (p.Phe778Ser)
c.2309T>C (p.Phe770Ser)
13g.108208972A>TCA388613576LIG4c.2096T>A (p.Phe699Tyr)
c.2297T>A (p.Phe766Tyr)
c.2333T>A (p.Phe778Tyr)
c.2309T>A (p.Phe770Tyr)
13g.108208973A=CA2117793998LIG4c.2095T= (p.Phe699=)
c.2296T= (p.Phe766=)
c.2332T= (p.Phe778=)
c.2308T= (p.Phe770=)
13g.108208973A>CCA388613578LIG4c.2095T>G (p.Phe699Val)
c.2296T>G (p.Phe766Val)
c.2332T>G (p.Phe778Val)
c.2308T>G (p.Phe770Val)
13g.108208973A>GCA388613579LIG4c.2095T>C (p.Phe699Leu)
c.2296T>C (p.Phe766Leu)
c.2332T>C (p.Phe778Leu)
c.2308T>C (p.Phe770Leu)
13g.108208973A>TCA388613580LIG4c.2095T>A (p.Phe699Ile)
c.2296T>A (p.Phe766Ile)
c.2332T>A (p.Phe778Ile)
c.2308T>A (p.Phe770Ile)
 dbSNP
13g.108208974A=CA2117793999LIG4c.2094T= (p.Tyr698=)
c.2295T= (p.Tyr765=)
c.2331T= (p.Tyr777=)
c.2307T= (p.Tyr769=)
13g.108208974A>CCA388613581LIG4c.2094T>G (p.Tyr698Ter)
c.2295T>G (p.Tyr765Ter)
c.2331T>G (p.Tyr777Ter)
c.2307T>G (p.Tyr769Ter)
13g.108208974A>GCA484974946LIG4c.2094T>C (p.Tyr698=)
c.2295T>C (p.Tyr765=)
c.2331T>C (p.Tyr777=)
c.2307T>C (p.Tyr769=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208974A>TCA388613582LIG4c.2094T>A (p.Tyr698Ter)
c.2295T>A (p.Tyr765Ter)
c.2331T>A (p.Tyr777Ter)
c.2307T>A (p.Tyr769Ter)
13g.108208975T>ACA388613583LIG4c.2093A>T (p.Tyr698Phe)
c.2294A>T (p.Tyr765Phe)
c.2330A>T (p.Tyr777Phe)
c.2306A>T (p.Tyr769Phe)
13g.108208975T>CCA388613584LIG4c.2093A>G (p.Tyr698Cys)
c.2294A>G (p.Tyr765Cys)
c.2330A>G (p.Tyr777Cys)
c.2306A>G (p.Tyr769Cys)
13g.108208975T>GCA388613585LIG4c.2093A>C (p.Tyr698Ser)
c.2294A>C (p.Tyr765Ser)
c.2330A>C (p.Tyr777Ser)
c.2306A>C (p.Tyr769Ser)
13g.108208976A>CCA388613586LIG4c.2092T>G (p.Tyr698Asp)
c.2293T>G (p.Tyr765Asp)
c.2329T>G (p.Tyr777Asp)
c.2305T>G (p.Tyr769Asp)
13g.108208976A>GCA388613587LIG4c.2092T>C (p.Tyr698His)
c.2293T>C (p.Tyr765His)
c.2329T>C (p.Tyr777His)
c.2305T>C (p.Tyr769His)
13g.108208976A>TCA388613588LIG4c.2092T>A (p.Tyr698Asn)
c.2293T>A (p.Tyr765Asn)
c.2329T>A (p.Tyr777Asn)
c.2305T>A (p.Tyr769Asn)
13g.108208977A>CCA388613590LIG4c.2091T>G (p.Ser697Arg)
c.2292T>G (p.Ser764Arg)
c.2328T>G (p.Ser776Arg)
c.2304T>G (p.Ser768Arg)
13g.108208977A>GCA484974948LIG4c.2091T>C (p.Ser697=)
c.2292T>C (p.Ser764=)
c.2328T>C (p.Ser776=)
c.2304T>C (p.Ser768=)
 ClinVar dbSNP
13g.108208977A>TCA388613589LIG4c.2091T>A (p.Ser697Arg)
c.2292T>A (p.Ser764Arg)
c.2328T>A (p.Ser776Arg)
c.2304T>A (p.Ser768Arg)
13g.108208978C>ACA388613591LIG4c.2090G>T (p.Ser697Ile)
c.2291G>T (p.Ser764Ile)
c.2327G>T (p.Ser776Ile)
c.2303G>T (p.Ser768Ile)
 gnomAD v4
13g.108208978C>GCA388613592LIG4c.2090G>C (p.Ser697Thr)
c.2291G>C (p.Ser764Thr)
c.2327G>C (p.Ser776Thr)
c.2303G>C (p.Ser768Thr)
13g.108208978C>TCA388613593LIG4c.2090G>A (p.Ser697Asn)
c.2291G>A (p.Ser764Asn)
c.2327G>A (p.Ser776Asn)
c.2303G>A (p.Ser768Asn)
 gnomAD v4
13g.108208978_108208980delinsCTACA2117794000LIG4c.2088_2090delinsTAG (p.Asp696=)
c.2289_2291delinsTAG (p.Asp763=)
c.2325_2327delinsTAG (p.Asp775=)
c.2301_2303delinsTAG (p.Asp767=)
13g.108208979T>ACA388613594LIG4c.2089A>T (p.Ser697Cys)
c.2290A>T (p.Ser764Cys)
c.2326A>T (p.Ser776Cys)
c.2302A>T (p.Ser768Cys)
13g.108208979T>CCA388613595LIG4c.2089A>G (p.Ser697Gly)
c.2290A>G (p.Ser764Gly)
c.2326A>G (p.Ser776Gly)
c.2302A>G (p.Ser768Gly)
 gnomAD v4
13g.108208979T>GCA388613596LIG4c.2089A>C (p.Ser697Arg)
c.2290A>C (p.Ser764Arg)
c.2326A>C (p.Ser776Arg)
c.2302A>C (p.Ser768Arg)
13g.108208980_108208981delCA694833682LIG4c.2088_2089del (p.Asp696GlufsTer5)
c.2289_2290del (p.Asp763GlufsTer5)
c.2325_2326del (p.Asp775GlufsTer5)
c.2301_2302del (p.Asp767GlufsTer5)
 dbSNP gnomAD v3 gnomAD v4
13g.108208980A=CA2117794001LIG4c.2088T= (p.Asp696=)
c.2289T= (p.Asp763=)
c.2325T= (p.Asp775=)
c.2301T= (p.Asp767=)
13g.108208980A>CCA388613597LIG4c.2088T>G (p.Asp696Glu)
c.2289T>G (p.Asp763Glu)
c.2325T>G (p.Asp775Glu)
c.2301T>G (p.Asp767Glu)
13g.108208980A>GCA484974950LIG4c.2088T>C (p.Asp696=)
c.2289T>C (p.Asp763=)
c.2325T>C (p.Asp775=)
c.2301T>C (p.Asp767=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208980A>TCA388613598LIG4c.2088T>A (p.Asp696Glu)
c.2289T>A (p.Asp763Glu)
c.2325T>A (p.Asp775Glu)
c.2301T>A (p.Asp767Glu)
13g.108208981T>ACA388613599LIG4c.2087A>T (p.Asp696Val)
c.2288A>T (p.Asp763Val)
c.2324A>T (p.Asp775Val)
c.2300A>T (p.Asp767Val)
13g.108208981T>CCA388613600LIG4c.2087A>G (p.Asp696Gly)
c.2288A>G (p.Asp763Gly)
c.2324A>G (p.Asp775Gly)
c.2300A>G (p.Asp767Gly)
13g.108208981T>GCA388613601LIG4c.2087A>C (p.Asp696Ala)
c.2288A>C (p.Asp763Ala)
c.2324A>C (p.Asp775Ala)
c.2300A>C (p.Asp767Ala)
 ClinVar
13g.108208982C>ACA388613602LIG4c.2086G>T (p.Asp696Tyr)
c.2287G>T (p.Asp763Tyr)
c.2323G>T (p.Asp775Tyr)
c.2299G>T (p.Asp767Tyr)
13g.108208982C>GCA388613603LIG4c.2086G>C (p.Asp696His)
c.2287G>C (p.Asp763His)
c.2323G>C (p.Asp775His)
c.2299G>C (p.Asp767His)
13g.108208982C>TCA388613604LIG4c.2086G>A (p.Asp696Asn)
c.2287G>A (p.Asp763Asn)
c.2323G>A (p.Asp775Asn)
c.2299G>A (p.Asp767Asn)
13g.108208983A=CA2117794002LIG4c.2085T= (p.Gly695=)
c.2286T= (p.Gly762=)
c.2322T= (p.Gly774=)
c.2298T= (p.Gly766=)
13g.108208983A>CCA484974955LIG4c.2085T>G (p.Gly695=)
c.2286T>G (p.Gly762=)
c.2322T>G (p.Gly774=)
c.2298T>G (p.Gly766=)
13g.108208983A>GCA7043531LIG4c.2085T>C (p.Gly695=)
c.2286T>C (p.Gly762=)
c.2322T>C (p.Gly774=)
c.2298T>C (p.Gly766=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208983A>TCA484974957LIG4c.2085T>A (p.Gly695=)
c.2286T>A (p.Gly762=)
c.2322T>A (p.Gly774=)
c.2298T>A (p.Gly766=)
13g.108208984C>ACA388613605LIG4c.2084G>T (p.Gly695Val)
c.2285G>T (p.Gly762Val)
c.2321G>T (p.Gly774Val)
c.2297G>T (p.Gly766Val)
 gnomAD v4
13g.108208984C=CA2117794003LIG4c.2084G= (p.Gly695=)
c.2285G= (p.Gly762=)
c.2321G= (p.Gly774=)
c.2297G= (p.Gly766=)
13g.108208984C>GCA256179701LIG4c.2084G>C (p.Gly695Ala)
c.2285G>C (p.Gly762Ala)
c.2321G>C (p.Gly774Ala)
c.2297G>C (p.Gly766Ala)
 dbSNP
13g.108208984C>TCA388613606LIG4c.2084G>A (p.Gly695Asp)
c.2285G>A (p.Gly762Asp)
c.2321G>A (p.Gly774Asp)
c.2297G>A (p.Gly766Asp)
13g.108208985C>ACA388613607LIG4c.2083G>T (p.Gly695Cys)
c.2284G>T (p.Gly762Cys)
c.2320G>T (p.Gly774Cys)
c.2296G>T (p.Gly766Cys)
13g.108208985C=CA2117794004LIG4c.2083G= (p.Gly695=)
c.2284G= (p.Gly762=)
c.2320G= (p.Gly774=)
c.2296G= (p.Gly766=)
13g.108208985C>GCA388613608LIG4c.2083G>C (p.Gly695Arg)
c.2284G>C (p.Gly762Arg)
c.2320G>C (p.Gly774Arg)
c.2296G>C (p.Gly766Arg)
13g.108208985C>TCA7043532LIG4c.2083G>A (p.Gly695Ser)
c.2284G>A (p.Gly762Ser)
c.2320G>A (p.Gly774Ser)
c.2296G>A (p.Gly766Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208986A>CCA388613609LIG4c.2082T>G (p.Tyr694Ter)
c.2283T>G (p.Tyr761Ter)
c.2319T>G (p.Tyr773Ter)
c.2295T>G (p.Tyr765Ter)
13g.108208986A>GCA484974960LIG4c.2082T>C (p.Tyr694=)
c.2283T>C (p.Tyr761=)
c.2319T>C (p.Tyr773=)
c.2295T>C (p.Tyr765=)
 ClinVar
13g.108208986A>TCA388613610LIG4c.2082T>A (p.Tyr694Ter)
c.2283T>A (p.Tyr761Ter)
c.2319T>A (p.Tyr773Ter)
c.2295T>A (p.Tyr765Ter)
13g.108208987T>ACA388613611LIG4c.2081A>T (p.Tyr694Phe)
c.2282A>T (p.Tyr761Phe)
c.2318A>T (p.Tyr773Phe)
c.2294A>T (p.Tyr765Phe)
 dbSNP gnomAD v2 gnomAD v4
13g.108208987T>CCA388613612LIG4c.2081A>G (p.Tyr694Cys)
c.2282A>G (p.Tyr761Cys)
c.2318A>G (p.Tyr773Cys)
c.2294A>G (p.Tyr765Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208987T>GCA388613613LIG4c.2081A>C (p.Tyr694Ser)
c.2282A>C (p.Tyr761Ser)
c.2318A>C (p.Tyr773Ser)
c.2294A>C (p.Tyr765Ser)
13g.108208987T=CA2117794005LIG4c.2081A= (p.Tyr694=)
c.2282A= (p.Tyr761=)
c.2318A= (p.Tyr773=)
c.2294A= (p.Tyr765=)
13g.108208988A>CCA388613614LIG4c.2080T>G (p.Tyr694Asp)
c.2281T>G (p.Tyr761Asp)
c.2317T>G (p.Tyr773Asp)
c.2293T>G (p.Tyr765Asp)
13g.108208988A>GCA388613615LIG4c.2080T>C (p.Tyr694His)
c.2281T>C (p.Tyr761His)
c.2317T>C (p.Tyr773His)
c.2293T>C (p.Tyr765His)
13g.108208988A>TCA388613616LIG4c.2080T>A (p.Tyr694Asn)
c.2281T>A (p.Tyr761Asn)
c.2317T>A (p.Tyr773Asn)
c.2293T>A (p.Tyr765Asn)
13g.108208989G>ACA484974962LIG4c.2079C>T (p.Cys693=)
c.2280C>T (p.Cys760=)
c.2316C>T (p.Cys772=)
c.2292C>T (p.Cys764=)
 gnomAD v4
13g.108208989G>CCA388613618LIG4c.2079C>G (p.Cys693Trp)
c.2280C>G (p.Cys760Trp)
c.2316C>G (p.Cys772Trp)
c.2292C>G (p.Cys764Trp)
13g.108208989G>TCA388613617LIG4c.2079C>A (p.Cys693Ter)
c.2280C>A (p.Cys760Ter)
c.2316C>A (p.Cys772Ter)
c.2292C>A (p.Cys764Ter)
13g.108208990C>ACA388613619LIG4c.2078G>T (p.Cys693Phe)
c.2279G>T (p.Cys760Phe)
c.2315G>T (p.Cys772Phe)
c.2291G>T (p.Cys764Phe)
13g.108208990C=CA2117794006LIG4c.2078G= (p.Cys693=)
c.2279G= (p.Cys760=)
c.2315G= (p.Cys772=)
c.2291G= (p.Cys764=)
13g.108208990C>GCA388613621LIG4c.2078G>C (p.Cys693Ser)
c.2279G>C (p.Cys760Ser)
c.2315G>C (p.Cys772Ser)
c.2291G>C (p.Cys764Ser)
 gnomAD v4
13g.108208990C>TCA388613620LIG4c.2078G>A (p.Cys693Tyr)
c.2279G>A (p.Cys760Tyr)
c.2315G>A (p.Cys772Tyr)
c.2291G>A (p.Cys764Tyr)
 dbSNP gnomAD v3 gnomAD v4
13g.108208991A>CCA388613622LIG4c.2077T>G (p.Cys693Gly)
c.2278T>G (p.Cys760Gly)
c.2314T>G (p.Cys772Gly)
c.2290T>G (p.Cys764Gly)
13g.108208991A>GCA388613624LIG4c.2077T>C (p.Cys693Arg)
c.2278T>C (p.Cys760Arg)
c.2314T>C (p.Cys772Arg)
c.2290T>C (p.Cys764Arg)
 gnomAD v4
13g.108208991A>TCA388613623LIG4c.2077T>A (p.Cys693Ser)
c.2278T>A (p.Cys760Ser)
c.2314T>A (p.Cys772Ser)
c.2290T>A (p.Cys764Ser)
13g.108208992A>CCA388613625LIG4c.2076T>G (p.Asp692Glu)
c.2277T>G (p.Asp759Glu)
c.2313T>G (p.Asp771Glu)
c.2289T>G (p.Asp763Glu)
13g.108208992A>GCA484974967LIG4c.2076T>C (p.Asp692=)
c.2277T>C (p.Asp759=)
c.2313T>C (p.Asp771=)
c.2289T>C (p.Asp763=)
13g.108208992A>TCA388613626LIG4c.2076T>A (p.Asp692Glu)
c.2277T>A (p.Asp759Glu)
c.2313T>A (p.Asp771Glu)
c.2289T>A (p.Asp763Glu)
13g.108208993T>ACA388613627LIG4c.2075A>T (p.Asp692Val)
c.2276A>T (p.Asp759Val)
c.2312A>T (p.Asp771Val)
c.2288A>T (p.Asp763Val)
13g.108208993T>CCA388613628LIG4c.2075A>G (p.Asp692Gly)
c.2276A>G (p.Asp759Gly)
c.2312A>G (p.Asp771Gly)
c.2288A>G (p.Asp763Gly)
 ClinVar
13g.108208993T>GCA388613629LIG4c.2075A>C (p.Asp692Ala)
c.2276A>C (p.Asp759Ala)
c.2312A>C (p.Asp771Ala)
c.2288A>C (p.Asp763Ala)
13g.108208994C>ACA388613632LIG4c.2074G>T (p.Asp692Tyr)
c.2275G>T (p.Asp759Tyr)
c.2311G>T (p.Asp771Tyr)
c.2287G>T (p.Asp763Tyr)
13g.108208994C>GCA388613631LIG4c.2074G>C (p.Asp692His)
c.2275G>C (p.Asp759His)
c.2311G>C (p.Asp771His)
c.2287G>C (p.Asp763His)
13g.108208994C>TCA388613630LIG4c.2074G>A (p.Asp692Asn)
c.2275G>A (p.Asp759Asn)
c.2311G>A (p.Asp771Asn)
c.2287G>A (p.Asp763Asn)
13g.108208995A=CA2117794007LIG4c.2073T= (p.Tyr691=)
c.2274T= (p.Tyr758=)
c.2310T= (p.Tyr770=)
c.2286T= (p.Tyr762=)
13g.108208995A>CCA388613633LIG4c.2073T>G (p.Tyr691Ter)
c.2274T>G (p.Tyr758Ter)
c.2310T>G (p.Tyr770Ter)
c.2286T>G (p.Tyr762Ter)
13g.108208995A>GCA7043533LIG4c.2073T>C (p.Tyr691=)
c.2274T>C (p.Tyr758=)
c.2310T>C (p.Tyr770=)
c.2286T>C (p.Tyr762=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208995A>TCA388613634LIG4c.2073T>A (p.Tyr691Ter)
c.2274T>A (p.Tyr758Ter)
c.2310T>A (p.Tyr770Ter)
c.2286T>A (p.Tyr762Ter)
13g.108208996T>ACA388613635LIG4c.2072A>T (p.Tyr691Phe)
c.2273A>T (p.Tyr758Phe)
c.2309A>T (p.Tyr770Phe)
c.2285A>T (p.Tyr762Phe)
13g.108208996T>CCA7043534LIG4c.2072A>G (p.Tyr691Cys)
c.2273A>G (p.Tyr758Cys)
c.2309A>G (p.Tyr770Cys)
c.2285A>G (p.Tyr762Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208996T>GCA388613636LIG4c.2072A>C (p.Tyr691Ser)
c.2273A>C (p.Tyr758Ser)
c.2309A>C (p.Tyr770Ser)
c.2285A>C (p.Tyr762Ser)
13g.108208996T=CA2117794008LIG4c.2072A= (p.Tyr691=)
c.2273A= (p.Tyr758=)
c.2309A= (p.Tyr770=)
c.2285A= (p.Tyr762=)
13g.108208997A>CCA388613637LIG4c.2071T>G (p.Tyr691Asp)
c.2272T>G (p.Tyr758Asp)
c.2308T>G (p.Tyr770Asp)
c.2284T>G (p.Tyr762Asp)
13g.108208997A>GCA388613639LIG4c.2071T>C (p.Tyr691His)
c.2272T>C (p.Tyr758His)
c.2308T>C (p.Tyr770His)
c.2284T>C (p.Tyr762His)
13g.108208997A>TCA388613638LIG4c.2071T>A (p.Tyr691Asn)
c.2272T>A (p.Tyr758Asn)
c.2308T>A (p.Tyr770Asn)
c.2284T>A (p.Tyr762Asn)
13g.108208998T>ACA388613640LIG4c.2070A>T (p.Glu690Asp)
c.2271A>T (p.Glu757Asp)
c.2307A>T (p.Glu769Asp)
c.2283A>T (p.Glu761Asp)
13g.108208998T>CCA484974970LIG4c.2070A>G (p.Glu690=)
c.2271A>G (p.Glu757=)
c.2307A>G (p.Glu769=)
c.2283A>G (p.Glu761=)
13g.108208998T>GCA388613641LIG4c.2070A>C (p.Glu690Asp)
c.2271A>C (p.Glu757Asp)
c.2307A>C (p.Glu769Asp)
c.2283A>C (p.Glu761Asp)
13g.108208999T>ACA388613642LIG4c.2069A>T (p.Glu690Val)
c.2270A>T (p.Glu757Val)
c.2306A>T (p.Glu769Val)
c.2282A>T (p.Glu761Val)
13g.108208999T>CCA388613643LIG4c.2069A>G (p.Glu690Gly)
c.2270A>G (p.Glu757Gly)
c.2306A>G (p.Glu769Gly)
c.2282A>G (p.Glu761Gly)
13g.108208999T>GCA388613644LIG4c.2069A>C (p.Glu690Ala)
c.2270A>C (p.Glu757Ala)
c.2306A>C (p.Glu769Ala)
c.2282A>C (p.Glu761Ala)
13g.108209000C>ACA388613645LIG4c.2068G>T (p.Glu690Ter)
c.2269G>T (p.Glu757Ter)
c.2305G>T (p.Glu769Ter)
c.2281G>T (p.Glu761Ter)
13g.108209000C>GCA388613646LIG4c.2068G>C (p.Glu690Gln)
c.2269G>C (p.Glu757Gln)
c.2305G>C (p.Glu769Gln)
c.2281G>C (p.Glu761Gln)
13g.108209000C>TCA388613647LIG4c.2068G>A (p.Glu690Lys)
c.2269G>A (p.Glu757Lys)
c.2305G>A (p.Glu769Lys)
c.2281G>A (p.Glu761Lys)
 gnomAD v4 COSMIC
13g.108209001A>CCA484974973LIG4c.2067T>G (p.Arg689=)
c.2268T>G (p.Arg756=)
c.2304T>G (p.Arg768=)
c.2280T>G (p.Arg760=)
13g.108209001A>GCA484974975LIG4c.2067T>C (p.Arg689=)
c.2268T>C (p.Arg756=)
c.2304T>C (p.Arg768=)
c.2280T>C (p.Arg760=)
13g.108209001A>TCA484974976LIG4c.2067T>A (p.Arg689=)
c.2268T>A (p.Arg756=)
c.2304T>A (p.Arg768=)
c.2280T>A (p.Arg760=)
13g.108209002C>ACA388613648LIG4c.2066G>T (p.Arg689Leu)
c.2267G>T (p.Arg756Leu)
c.2303G>T (p.Arg768Leu)
c.2279G>T (p.Arg760Leu)
 gnomAD v4
13g.108209002C=CA2117794009LIG4c.2066G= (p.Arg689=)
c.2267G= (p.Arg756=)
c.2303G= (p.Arg768=)
c.2279G= (p.Arg760=)
13g.108209002C>GCA388613649LIG4c.2066G>C (p.Arg689Pro)
c.2267G>C (p.Arg756Pro)
c.2303G>C (p.Arg768Pro)
c.2279G>C (p.Arg760Pro)
13g.108209002C>TCA7043535LIG4c.2066G>A (p.Arg689His)
c.2267G>A (p.Arg756His)
c.2303G>A (p.Arg768His)
c.2279G>A (p.Arg760His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209003G>ACA7043537LIG4c.2065C>T (p.Arg689Cys)
c.2266C>T (p.Arg756Cys)
c.2302C>T (p.Arg768Cys)
c.2278C>T (p.Arg760Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209003G>CCA388613650LIG4c.2065C>G (p.Arg689Gly)
c.2266C>G (p.Arg756Gly)
c.2302C>G (p.Arg768Gly)
c.2278C>G (p.Arg760Gly)
13g.108209003G=CA2117794010LIG4c.2065C= (p.Arg689=)
c.2266C= (p.Arg756=)
c.2302C= (p.Arg768=)
c.2278C= (p.Arg760=)
13g.108209003G>TCA7043536LIG4c.2065C>A (p.Arg689Ser)
c.2266C>A (p.Arg756Ser)
c.2302C>A (p.Arg768Ser)
c.2278C>A (p.Arg760Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209004G>ACA484974978LIG4c.2064C>T (p.Ala688=)
c.2265C>T (p.Ala755=)
c.2301C>T (p.Ala767=)
c.2277C>T (p.Ala759=)
 dbSNP
13g.108209004G>CCA484974979LIG4c.2064C>G (p.Ala688=)
c.2265C>G (p.Ala755=)
c.2301C>G (p.Ala767=)
c.2277C>G (p.Ala759=)
 dbSNP
13g.108209004G=CA2117794011LIG4c.2064C= (p.Ala688=)
c.2265C= (p.Ala755=)
c.2301C= (p.Ala767=)
c.2277C= (p.Ala759=)
13g.108209004G>TCA484974980LIG4c.2064C>A (p.Ala688=)
c.2265C>A (p.Ala755=)
c.2301C>A (p.Ala767=)
c.2277C>A (p.Ala759=)

Number of alleles fetched