Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
13g.108209005G>ACA388613651LIG4c.2063C>T (p.Ala688Val)
c.2264C>T (p.Ala755Val)
c.2300C>T (p.Ala767Val)
c.2276C>T (p.Ala759Val)
13g.108209005G>CCA388613652LIG4c.2063C>G (p.Ala688Gly)
c.2264C>G (p.Ala755Gly)
c.2300C>G (p.Ala767Gly)
c.2276C>G (p.Ala759Gly)
13g.108209005G>TCA388613653LIG4c.2063C>A (p.Ala688Asp)
c.2264C>A (p.Ala755Asp)
c.2300C>A (p.Ala767Asp)
c.2276C>A (p.Ala759Asp)
13g.108209006C>ACA388613654LIG4c.2062G>T (p.Ala688Ser)
c.2263G>T (p.Ala755Ser)
c.2299G>T (p.Ala767Ser)
c.2275G>T (p.Ala759Ser)
 dbSNP gnomAD v3 gnomAD v4
13g.108209006C=CA2117794012LIG4c.2062G= (p.Ala688=)
c.2263G= (p.Ala755=)
c.2299G= (p.Ala767=)
c.2275G= (p.Ala759=)
13g.108209006C>GCA256179747LIG4c.2062G>C (p.Ala688Pro)
c.2263G>C (p.Ala755Pro)
c.2299G>C (p.Ala767Pro)
c.2275G>C (p.Ala759Pro)
 dbSNP
13g.108209006C>TCA388613655LIG4c.2062G>A (p.Ala688Thr)
c.2263G>A (p.Ala755Thr)
c.2299G>A (p.Ala767Thr)
c.2275G>A (p.Ala759Thr)
13g.108209007A>CCA388613656LIG4c.2061T>G (p.Phe687Leu)
c.2262T>G (p.Phe754Leu)
c.2298T>G (p.Phe766Leu)
c.2274T>G (p.Phe758Leu)
13g.108209007A>GCA484974983LIG4c.2061T>C (p.Phe687=)
c.2262T>C (p.Phe754=)
c.2298T>C (p.Phe766=)
c.2274T>C (p.Phe758=)
13g.108209007A>TCA388613657LIG4c.2061T>A (p.Phe687Leu)
c.2262T>A (p.Phe754Leu)
c.2298T>A (p.Phe766Leu)
c.2274T>A (p.Phe758Leu)
13g.108209010delCA2739277737LIG4c.2061del (p.Phe687LeufsTer18)
c.2262del (p.Phe754LeufsTer18)
c.2298del (p.Phe766LeufsTer18)
c.2274del (p.Phe758LeufsTer18)
 ClinVar
13g.108209008A=CA2117794013LIG4c.2060T= (p.Phe687=)
c.2261T= (p.Phe754=)
c.2297T= (p.Phe766=)
c.2273T= (p.Phe758=)
13g.108209008A>CCA388613658LIG4c.2060T>G (p.Phe687Cys)
c.2261T>G (p.Phe754Cys)
c.2297T>G (p.Phe766Cys)
c.2273T>G (p.Phe758Cys)
13g.108209008A>GCA7043538LIG4c.2060T>C (p.Phe687Ser)
c.2261T>C (p.Phe754Ser)
c.2297T>C (p.Phe766Ser)
c.2273T>C (p.Phe758Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209008A>TCA388613659LIG4c.2060T>A (p.Phe687Tyr)
c.2261T>A (p.Phe754Tyr)
c.2297T>A (p.Phe766Tyr)
c.2273T>A (p.Phe758Tyr)
13g.108209009A>CCA388613662LIG4c.2059T>G (p.Phe687Val)
c.2260T>G (p.Phe754Val)
c.2296T>G (p.Phe766Val)
c.2272T>G (p.Phe758Val)
13g.108209009A>GCA388613660LIG4c.2059T>C (p.Phe687Leu)
c.2260T>C (p.Phe754Leu)
c.2296T>C (p.Phe766Leu)
c.2272T>C (p.Phe758Leu)
13g.108209009A>TCA388613661LIG4c.2059T>A (p.Phe687Ile)
c.2260T>A (p.Phe754Ile)
c.2296T>A (p.Phe766Ile)
c.2272T>A (p.Phe758Ile)
13g.108209010A>CCA388613663LIG4c.2058T>G (p.His686Gln)
c.2259T>G (p.His753Gln)
c.2295T>G (p.His765Gln)
c.2271T>G (p.His757Gln)
13g.108209010A>GCA484974988LIG4c.2058T>C (p.His686=)
c.2259T>C (p.His753=)
c.2295T>C (p.His765=)
c.2271T>C (p.His757=)
13g.108209010A>TCA388613664LIG4c.2058T>A (p.His686Gln)
c.2259T>A (p.His753Gln)
c.2295T>A (p.His765Gln)
c.2271T>A (p.His757Gln)
13g.108209011T>ACA388613665LIG4c.2057A>T (p.His686Leu)
c.2258A>T (p.His753Leu)
c.2294A>T (p.His765Leu)
c.2270A>T (p.His757Leu)
13g.108209011T>CCA388613666LIG4c.2057A>G (p.His686Arg)
c.2258A>G (p.His753Arg)
c.2294A>G (p.His765Arg)
c.2270A>G (p.His757Arg)
13g.108209011T>GCA388613667LIG4c.2057A>C (p.His686Pro)
c.2258A>C (p.His753Pro)
c.2294A>C (p.His765Pro)
c.2270A>C (p.His757Pro)
13g.108209012G>ACA388613668LIG4c.2056C>T (p.His686Tyr)
c.2257C>T (p.His753Tyr)
c.2293C>T (p.His765Tyr)
c.2269C>T (p.His757Tyr)
 gnomAD v4
13g.108209012G>CCA388613669LIG4c.2056C>G (p.His686Asp)
c.2257C>G (p.His753Asp)
c.2293C>G (p.His765Asp)
c.2269C>G (p.His757Asp)
13g.108209012G>TCA388613670LIG4c.2056C>A (p.His686Asn)
c.2257C>A (p.His753Asn)
c.2293C>A (p.His765Asn)
c.2269C>A (p.His757Asn)
13g.108209013T>ACA388613671LIG4c.2055A>T (p.Glu685Asp)
c.2256A>T (p.Glu752Asp)
c.2292A>T (p.Glu764Asp)
c.2268A>T (p.Glu756Asp)
13g.108209013T>CCA7043539LIG4c.2055A>G (p.Glu685=)
c.2256A>G (p.Glu752=)
c.2292A>G (p.Glu764=)
c.2268A>G (p.Glu756=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209013T>GCA388613672LIG4c.2055A>C (p.Glu685Asp)
c.2256A>C (p.Glu752Asp)
c.2292A>C (p.Glu764Asp)
c.2268A>C (p.Glu756Asp)
13g.108209013T=CA2117794014LIG4c.2055A= (p.Glu685=)
c.2256A= (p.Glu752=)
c.2292A= (p.Glu764=)
c.2268A= (p.Glu756=)
13g.108209014T>ACA388613674LIG4c.2054A>T (p.Glu685Val)
c.2255A>T (p.Glu752Val)
c.2291A>T (p.Glu764Val)
c.2267A>T (p.Glu756Val)
13g.108209014T>CCA388613675LIG4c.2054A>G (p.Glu685Gly)
c.2255A>G (p.Glu752Gly)
c.2291A>G (p.Glu764Gly)
c.2267A>G (p.Glu756Gly)
 dbSNP gnomAD v4
13g.108209014T>GCA388613673LIG4c.2054A>C (p.Glu685Ala)
c.2255A>C (p.Glu752Ala)
c.2291A>C (p.Glu764Ala)
c.2267A>C (p.Glu756Ala)
13g.108209014T=CA2117794015LIG4c.2054A= (p.Glu685=)
c.2255A= (p.Glu752=)
c.2291A= (p.Glu764=)
c.2267A= (p.Glu756=)
13g.108209015C>ACA388613676LIG4c.2053G>T (p.Glu685Ter)
c.2254G>T (p.Glu752Ter)
c.2290G>T (p.Glu764Ter)
c.2266G>T (p.Glu756Ter)
 COSMIC
13g.108209015C>GCA388613677LIG4c.2053G>C (p.Glu685Gln)
c.2254G>C (p.Glu752Gln)
c.2290G>C (p.Glu764Gln)
c.2266G>C (p.Glu756Gln)
13g.108209015C>TCA388613678LIG4c.2053G>A (p.Glu685Lys)
c.2254G>A (p.Glu752Lys)
c.2290G>A (p.Glu764Lys)
c.2266G>A (p.Glu756Lys)
13g.108209016T>ACA388613679LIG4c.2052A>T (p.Lys684Asn)
c.2253A>T (p.Lys751Asn)
c.2289A>T (p.Lys763Asn)
c.2265A>T (p.Lys755Asn)
13g.108209016T>CCA484974993LIG4c.2052A>G (p.Lys684=)
c.2253A>G (p.Lys751=)
c.2289A>G (p.Lys763=)
c.2265A>G (p.Lys755=)
13g.108209016T>GCA388613680LIG4c.2052A>C (p.Lys684Asn)
c.2253A>C (p.Lys751Asn)
c.2289A>C (p.Lys763Asn)
c.2265A>C (p.Lys755Asn)
13g.108209017T>ACA388613683LIG4c.2051A>T (p.Lys684Ile)
c.2252A>T (p.Lys751Ile)
c.2288A>T (p.Lys763Ile)
c.2264A>T (p.Lys755Ile)
13g.108209017T>CCA388613682LIG4c.2051A>G (p.Lys684Arg)
c.2252A>G (p.Lys751Arg)
c.2288A>G (p.Lys763Arg)
c.2264A>G (p.Lys755Arg)
13g.108209017T>GCA388613681LIG4c.2051A>C (p.Lys684Thr)
c.2252A>C (p.Lys751Thr)
c.2288A>C (p.Lys763Thr)
c.2264A>C (p.Lys755Thr)
13g.108209018T>ACA388613684LIG4c.2050A>T (p.Lys684Ter)
c.2251A>T (p.Lys751Ter)
c.2287A>T (p.Lys763Ter)
c.2263A>T (p.Lys755Ter)
13g.108209018T>CCA388613685LIG4c.2050A>G (p.Lys684Glu)
c.2251A>G (p.Lys751Glu)
c.2287A>G (p.Lys763Glu)
c.2263A>G (p.Lys755Glu)
13g.108209018T>GCA388613686LIG4c.2050A>C (p.Lys684Gln)
c.2251A>C (p.Lys751Gln)
c.2287A>C (p.Lys763Gln)
c.2263A>C (p.Lys755Gln)
13g.108209019G>ACA484974994LIG4c.2049C>T (p.Thr683=)
c.2250C>T (p.Thr750=)
c.2286C>T (p.Thr762=)
c.2262C>T (p.Thr754=)
13g.108209019G>CCA484974996LIG4c.2049C>G (p.Thr683=)
c.2250C>G (p.Thr750=)
c.2286C>G (p.Thr762=)
c.2262C>G (p.Thr754=)
 ClinVar gnomAD v4
13g.108209019G>TCA484974995LIG4c.2049C>A (p.Thr683=)
c.2250C>A (p.Thr750=)
c.2286C>A (p.Thr762=)
c.2262C>A (p.Thr754=)
13g.108209020G>ACA388613687LIG4c.2048C>T (p.Thr683Ile)
c.2249C>T (p.Thr750Ile)
c.2285C>T (p.Thr762Ile)
c.2261C>T (p.Thr754Ile)
 gnomAD v4
13g.108209020G>CCA388613688LIG4c.2048C>G (p.Thr683Ser)
c.2249C>G (p.Thr750Ser)
c.2285C>G (p.Thr762Ser)
c.2261C>G (p.Thr754Ser)
13g.108209020G>TCA388613689LIG4c.2048C>A (p.Thr683Asn)
c.2249C>A (p.Thr750Asn)
c.2285C>A (p.Thr762Asn)
c.2261C>A (p.Thr754Asn)
13g.108209021T>ACA388613692LIG4c.2047A>T (p.Thr683Ser)
c.2248A>T (p.Thr750Ser)
c.2284A>T (p.Thr762Ser)
c.2260A>T (p.Thr754Ser)
13g.108209021T>CCA388613690LIG4c.2047A>G (p.Thr683Ala)
c.2248A>G (p.Thr750Ala)
c.2284A>G (p.Thr762Ala)
c.2260A>G (p.Thr754Ala)
13g.108209021T>GCA388613691LIG4c.2047A>C (p.Thr683Pro)
c.2248A>C (p.Thr750Pro)
c.2284A>C (p.Thr762Pro)
c.2260A>C (p.Thr754Pro)
13g.108209022T>ACA484974998LIG4c.2046A>T (p.Ser682=)
c.2247A>T (p.Ser749=)
c.2283A>T (p.Ser761=)
c.2259A>T (p.Ser753=)
13g.108209022T>CCA484974999LIG4c.2046A>G (p.Ser682=)
c.2247A>G (p.Ser749=)
c.2283A>G (p.Ser761=)
c.2259A>G (p.Ser753=)
13g.108209022T>GCA484975000LIG4c.2046A>C (p.Ser682=)
c.2247A>C (p.Ser749=)
c.2283A>C (p.Ser761=)
c.2259A>C (p.Ser753=)
13g.108209023G>ACA388613693LIG4c.2045C>T (p.Ser682Leu)
c.2246C>T (p.Ser749Leu)
c.2282C>T (p.Ser761Leu)
c.2258C>T (p.Ser753Leu)
13g.108209023G>CCA388613694LIG4c.2045C>G (p.Ser682Ter)
c.2246C>G (p.Ser749Ter)
c.2282C>G (p.Ser761Ter)
c.2258C>G (p.Ser753Ter)
13g.108209023G>TCA388613695LIG4c.2045C>A (p.Ser682Ter)
c.2246C>A (p.Ser749Ter)
c.2282C>A (p.Ser761Ter)
c.2258C>A (p.Ser753Ter)
13g.108209024A=CA2117794016LIG4c.2044T= (p.Ser682=)
c.2245T= (p.Ser749=)
c.2281T= (p.Ser761=)
c.2257T= (p.Ser753=)
13g.108209024A>CCA388613696LIG4c.2044T>G (p.Ser682Ala)
c.2245T>G (p.Ser749Ala)
c.2281T>G (p.Ser761Ala)
c.2257T>G (p.Ser753Ala)
13g.108209024A>GCA7043540LIG4c.2044T>C (p.Ser682Pro)
c.2245T>C (p.Ser749Pro)
c.2281T>C (p.Ser761Pro)
c.2257T>C (p.Ser753Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209024A>TCA388613697LIG4c.2044T>A (p.Ser682Thr)
c.2245T>A (p.Ser749Thr)
c.2281T>A (p.Ser761Thr)
c.2257T>A (p.Ser753Thr)
13g.108209025T>ACA484975004LIG4c.2043A>T (p.Pro681=)
c.2244A>T (p.Pro748=)
c.2280A>T (p.Pro760=)
c.2256A>T (p.Pro752=)
13g.108209025T>CCA7043541LIG4c.2043A>G (p.Pro681=)
c.2244A>G (p.Pro748=)
c.2280A>G (p.Pro760=)
c.2256A>G (p.Pro752=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209025T>GCA484975005LIG4c.2043A>C (p.Pro681=)
c.2244A>C (p.Pro748=)
c.2280A>C (p.Pro760=)
c.2256A>C (p.Pro752=)
13g.108209025T=CA2117794017LIG4c.2043A= (p.Pro681=)
c.2244A= (p.Pro748=)
c.2280A= (p.Pro760=)
c.2256A= (p.Pro752=)
13g.108209026G>ACA388613698LIG4c.2042C>T (p.Pro681Leu)
c.2243C>T (p.Pro748Leu)
c.2279C>T (p.Pro760Leu)
c.2255C>T (p.Pro752Leu)
 dbSNP gnomAD v2 gnomAD v4
13g.108209026G>CCA388613699LIG4c.2042C>G (p.Pro681Arg)
c.2243C>G (p.Pro748Arg)
c.2279C>G (p.Pro760Arg)
c.2255C>G (p.Pro752Arg)
13g.108209026G=CA2117794018LIG4c.2042C= (p.Pro681=)
c.2243C= (p.Pro748=)
c.2279C= (p.Pro760=)
c.2255C= (p.Pro752=)
13g.108209026G>TCA388613700LIG4c.2042C>A (p.Pro681Gln)
c.2243C>A (p.Pro748Gln)
c.2279C>A (p.Pro760Gln)
c.2255C>A (p.Pro752Gln)
13g.108209028delCA2623644096LIG4c.2042del (p.Pro681HisfsTer24)
c.2243del (p.Pro748HisfsTer24)
c.2279del (p.Pro760HisfsTer24)
c.2255del (p.Pro752HisfsTer24)
 gnomAD v4
13g.108209027G>ACA388613701LIG4c.2041C>T (p.Pro681Ser)
c.2242C>T (p.Pro748Ser)
c.2278C>T (p.Pro760Ser)
c.2254C>T (p.Pro752Ser)
13g.108209027G>CCA388613702LIG4c.2041C>G (p.Pro681Ala)
c.2242C>G (p.Pro748Ala)
c.2278C>G (p.Pro760Ala)
c.2254C>G (p.Pro752Ala)
 gnomAD v4
13g.108209027G>TCA388613703LIG4c.2041C>A (p.Pro681Thr)
c.2242C>A (p.Pro748Thr)
c.2278C>A (p.Pro760Thr)
c.2254C>A (p.Pro752Thr)
13g.108209028G>ACA256179810LIG4c.2040C>T (p.Cys680=)
c.2241C>T (p.Cys747=)
c.2277C>T (p.Cys759=)
c.2253C>T (p.Cys751=)
 dbSNP
13g.108209028G>CCA388613705LIG4c.2040C>G (p.Cys680Trp)
c.2241C>G (p.Cys747Trp)
c.2277C>G (p.Cys759Trp)
c.2253C>G (p.Cys751Trp)
13g.108209028G=CA2117794019LIG4c.2040C= (p.Cys680=)
c.2241C= (p.Cys747=)
c.2277C= (p.Cys759=)
c.2253C= (p.Cys751=)
13g.108209028G>TCA388613704LIG4c.2040C>A (p.Cys680Ter)
c.2241C>A (p.Cys747Ter)
c.2277C>A (p.Cys759Ter)
c.2253C>A (p.Cys751Ter)
13g.108209029C>ACA388613706LIG4c.2039G>T (p.Cys680Phe)
c.2240G>T (p.Cys747Phe)
c.2276G>T (p.Cys759Phe)
c.2252G>T (p.Cys751Phe)
13g.108209029C>GCA388613707LIG4c.2039G>C (p.Cys680Ser)
c.2240G>C (p.Cys747Ser)
c.2276G>C (p.Cys759Ser)
c.2252G>C (p.Cys751Ser)
13g.108209029C>TCA388613708LIG4c.2039G>A (p.Cys680Tyr)
c.2240G>A (p.Cys747Tyr)
c.2276G>A (p.Cys759Tyr)
c.2252G>A (p.Cys751Tyr)
13g.108209030A=CA2117794020LIG4c.2038T= (p.Cys680=)
c.2239T= (p.Cys747=)
c.2275T= (p.Cys759=)
c.2251T= (p.Cys751=)
13g.108209030A>CCA388613709LIG4c.2038T>G (p.Cys680Gly)
c.2239T>G (p.Cys747Gly)
c.2275T>G (p.Cys759Gly)
c.2251T>G (p.Cys751Gly)
13g.108209030A>GCA388613710LIG4c.2038T>C (p.Cys680Arg)
c.2239T>C (p.Cys747Arg)
c.2275T>C (p.Cys759Arg)
c.2251T>C (p.Cys751Arg)
 ClinVar dbSNP gnomAD v4
13g.108209030A>TCA388613711LIG4c.2038T>A (p.Cys680Ser)
c.2239T>A (p.Cys747Ser)
c.2275T>A (p.Cys759Ser)
c.2251T>A (p.Cys751Ser)
13g.108209031C>ACA388613712LIG4c.2037G>T (p.Met679Ile)
c.2238G>T (p.Met746Ile)
c.2274G>T (p.Met758Ile)
c.2250G>T (p.Met750Ile)
13g.108209031C>GCA388613713LIG4c.2037G>C (p.Met679Ile)
c.2238G>C (p.Met746Ile)
c.2274G>C (p.Met758Ile)
c.2250G>C (p.Met750Ile)
 gnomAD v4
13g.108209031C>TCA388613714LIG4c.2037G>A (p.Met679Ile)
c.2238G>A (p.Met746Ile)
c.2274G>A (p.Met758Ile)
c.2250G>A (p.Met750Ile)
13g.108209032A=CA2117794021LIG4c.2036T= (p.Met679=)
c.2237T= (p.Met746=)
c.2273T= (p.Met758=)
c.2249T= (p.Met750=)
13g.108209032A>CCA388613715LIG4c.2036T>G (p.Met679Arg)
c.2237T>G (p.Met746Arg)
c.2273T>G (p.Met758Arg)
c.2249T>G (p.Met750Arg)
13g.108209032A>GCA7043542LIG4c.2036T>C (p.Met679Thr)
c.2237T>C (p.Met746Thr)
c.2273T>C (p.Met758Thr)
c.2249T>C (p.Met750Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.108209032A>TCA388613716LIG4c.2036T>A (p.Met679Lys)
c.2237T>A (p.Met746Lys)
c.2273T>A (p.Met758Lys)
c.2249T>A (p.Met750Lys)
13g.108209033T>ACA256179860LIG4c.2035A>T (p.Met679Leu)
c.2236A>T (p.Met746Leu)
c.2272A>T (p.Met758Leu)
c.2248A>T (p.Met750Leu)
 dbSNP
13g.108209033T>CCA388613718LIG4c.2035A>G (p.Met679Val)
c.2236A>G (p.Met746Val)
c.2272A>G (p.Met758Val)
c.2248A>G (p.Met750Val)
13g.108209033T>GCA388613717LIG4c.2035A>C (p.Met679Leu)
c.2236A>C (p.Met746Leu)
c.2272A>C (p.Met758Leu)
c.2248A>C (p.Met750Leu)
13g.108209033T=CA2117794022LIG4c.2035A= (p.Met679=)
c.2236A= (p.Met746=)
c.2272A= (p.Met758=)
c.2248A= (p.Met750=)
13g.108209034A>CCA388613719LIG4c.2034T>G (p.His678Gln)
c.2235T>G (p.His745Gln)
c.2271T>G (p.His757Gln)
c.2247T>G (p.His749Gln)
13g.108209034A>GCA484975011LIG4c.2034T>C (p.His678=)
c.2235T>C (p.His745=)
c.2271T>C (p.His757=)
c.2247T>C (p.His749=)
13g.108209034A>TCA388613720LIG4c.2034T>A (p.His678Gln)
c.2235T>A (p.His745Gln)
c.2271T>A (p.His757Gln)
c.2247T>A (p.His749Gln)
13g.108209035T>ACA256179870LIG4c.2033A>T (p.His678Leu)
c.2234A>T (p.His745Leu)
c.2270A>T (p.His757Leu)
c.2246A>T (p.His749Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209035T>CCA388613721LIG4c.2033A>G (p.His678Arg)
c.2234A>G (p.His745Arg)
c.2270A>G (p.His757Arg)
c.2246A>G (p.His749Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209035T>GCA388613722LIG4c.2033A>C (p.His678Pro)
c.2234A>C (p.His745Pro)
c.2270A>C (p.His757Pro)
c.2246A>C (p.His749Pro)
13g.108209035T=CA2117794023LIG4c.2033A= (p.His678=)
c.2234A= (p.His745=)
c.2270A= (p.His757=)
c.2246A= (p.His749=)
13g.108209036G>ACA388613723LIG4c.2032C>T (p.His678Tyr)
c.2233C>T (p.His745Tyr)
c.2269C>T (p.His757Tyr)
c.2245C>T (p.His749Tyr)
 COSMIC
13g.108209036G>CCA388613724LIG4c.2032C>G (p.His678Asp)
c.2233C>G (p.His745Asp)
c.2269C>G (p.His757Asp)
c.2245C>G (p.His749Asp)
13g.108209036G>TCA388613725LIG4c.2032C>A (p.His678Asn)
c.2233C>A (p.His745Asn)
c.2269C>A (p.His757Asn)
c.2245C>A (p.His749Asn)
13g.108209037A>CCA388613726LIG4c.2031T>G (p.Ile677Met)
c.2232T>G (p.Ile744Met)
c.2268T>G (p.Ile756Met)
c.2244T>G (p.Ile748Met)
13g.108209037A>GCA484975013LIG4c.2031T>C (p.Ile677=)
c.2232T>C (p.Ile744=)
c.2268T>C (p.Ile756=)
c.2244T>C (p.Ile748=)
13g.108209037A>TCA484975014LIG4c.2031T>A (p.Ile677=)
c.2232T>A (p.Ile744=)
c.2268T>A (p.Ile756=)
c.2244T>A (p.Ile748=)
13g.108209038A>CCA388613727LIG4c.2030T>G (p.Ile677Ser)
c.2231T>G (p.Ile744Ser)
c.2267T>G (p.Ile756Ser)
c.2243T>G (p.Ile748Ser)
13g.108209038A>GCA388613728LIG4c.2030T>C (p.Ile677Thr)
c.2231T>C (p.Ile744Thr)
c.2267T>C (p.Ile756Thr)
c.2243T>C (p.Ile748Thr)
13g.108209038A>TCA388613729LIG4c.2030T>A (p.Ile677Asn)
c.2231T>A (p.Ile744Asn)
c.2267T>A (p.Ile756Asn)
c.2243T>A (p.Ile748Asn)
13g.108209039T>ACA388613732LIG4c.2029A>T (p.Ile677Phe)
c.2230A>T (p.Ile744Phe)
c.2266A>T (p.Ile756Phe)
c.2242A>T (p.Ile748Phe)
13g.108209039T>CCA388613731LIG4c.2029A>G (p.Ile677Val)
c.2230A>G (p.Ile744Val)
c.2266A>G (p.Ile756Val)
c.2242A>G (p.Ile748Val)
13g.108209039T>GCA388613730LIG4c.2029A>C (p.Ile677Leu)
c.2230A>C (p.Ile744Leu)
c.2266A>C (p.Ile756Leu)
c.2242A>C (p.Ile748Leu)
13g.108209040C>ACA388613733LIG4c.2028G>T (p.Met676Ile)
c.2229G>T (p.Met743Ile)
c.2265G>T (p.Met755Ile)
c.2241G>T (p.Met747Ile)
13g.108209040C>GCA388613735LIG4c.2028G>C (p.Met676Ile)
c.2229G>C (p.Met743Ile)
c.2265G>C (p.Met755Ile)
c.2241G>C (p.Met747Ile)
13g.108209040C>TCA388613734LIG4c.2028G>A (p.Met676Ile)
c.2229G>A (p.Met743Ile)
c.2265G>A (p.Met755Ile)
c.2241G>A (p.Met747Ile)
 gnomAD v4
13g.108209040_108209041insTTTCA2623644097LIG4c.2027_2028insAAA (p.Met676delinsIleLys)
c.2228_2229insAAA (p.Met743delinsIleLys)
c.2264_2265insAAA (p.Met755delinsIleLys)
c.2240_2241insAAA (p.Met747delinsIleLys)
 gnomAD v4
13g.108209041A>CCA388613736LIG4c.2027T>G (p.Met676Arg)
c.2228T>G (p.Met743Arg)
c.2264T>G (p.Met755Arg)
c.2240T>G (p.Met747Arg)
13g.108209041A>GCA388613737LIG4c.2027T>C (p.Met676Thr)
c.2228T>C (p.Met743Thr)
c.2264T>C (p.Met755Thr)
c.2240T>C (p.Met747Thr)
13g.108209041A>TCA388613738LIG4c.2027T>A (p.Met676Lys)
c.2228T>A (p.Met743Lys)
c.2264T>A (p.Met755Lys)
c.2240T>A (p.Met747Lys)
13g.108209042T>ACA388613739LIG4c.2026A>T (p.Met676Leu)
c.2227A>T (p.Met743Leu)
c.2263A>T (p.Met755Leu)
c.2239A>T (p.Met747Leu)
13g.108209042T>CCA388613740LIG4c.2026A>G (p.Met676Val)
c.2227A>G (p.Met743Val)
c.2263A>G (p.Met755Val)
c.2239A>G (p.Met747Val)
 dbSNP gnomAD v2 gnomAD v4
13g.108209042T>GCA388613741LIG4c.2026A>C (p.Met676Leu)
c.2227A>C (p.Met743Leu)
c.2263A>C (p.Met755Leu)
c.2239A>C (p.Met747Leu)
13g.108209042T=CA2117794024LIG4c.2026A= (p.Met676=)
c.2227A= (p.Met743=)
c.2263A= (p.Met755=)
c.2239A= (p.Met747=)
13g.108209043A>CCA388613743LIG4c.2025T>G (p.Phe675Leu)
c.2226T>G (p.Phe742Leu)
c.2262T>G (p.Phe754Leu)
c.2238T>G (p.Phe746Leu)
13g.108209043A>GCA484975017LIG4c.2025T>C (p.Phe675=)
c.2226T>C (p.Phe742=)
c.2262T>C (p.Phe754=)
c.2238T>C (p.Phe746=)
13g.108209043A>TCA388613742LIG4c.2025T>A (p.Phe675Leu)
c.2226T>A (p.Phe742Leu)
c.2262T>A (p.Phe754Leu)
c.2238T>A (p.Phe746Leu)
 gnomAD v4
13g.108209044A>CCA388613744LIG4c.2024T>G (p.Phe675Cys)
c.2225T>G (p.Phe742Cys)
c.2261T>G (p.Phe754Cys)
c.2237T>G (p.Phe746Cys)
 COSMIC
13g.108209044A>GCA388613745LIG4c.2024T>C (p.Phe675Ser)
c.2225T>C (p.Phe742Ser)
c.2261T>C (p.Phe754Ser)
c.2237T>C (p.Phe746Ser)
 gnomAD v4
13g.108209044A>TCA388613746LIG4c.2024T>A (p.Phe675Tyr)
c.2225T>A (p.Phe742Tyr)
c.2261T>A (p.Phe754Tyr)
c.2237T>A (p.Phe746Tyr)
13g.108209045A=CA2117794025LIG4c.2023T= (p.Phe675=)
c.2224T= (p.Phe742=)
c.2260T= (p.Phe754=)
c.2236T= (p.Phe746=)
13g.108209045A>CCA388613747LIG4c.2023T>G (p.Phe675Val)
c.2224T>G (p.Phe742Val)
c.2260T>G (p.Phe754Val)
c.2236T>G (p.Phe746Val)
13g.108209045A>GCA388613748LIG4c.2023T>C (p.Phe675Leu)
c.2224T>C (p.Phe742Leu)
c.2260T>C (p.Phe754Leu)
c.2236T>C (p.Phe746Leu)
 ClinVar dbSNP
13g.108209045A>TCA388613749LIG4c.2023T>A (p.Phe675Ile)
c.2224T>A (p.Phe742Ile)
c.2260T>A (p.Phe754Ile)
c.2236T>A (p.Phe746Ile)
13g.108209046G>ACA484975026LIG4c.2022C>T (p.Arg674=)
c.2223C>T (p.Arg741=)
c.2259C>T (p.Arg753=)
c.2235C>T (p.Arg745=)
13g.108209046G>CCA484975022LIG4c.2022C>G (p.Arg674=)
c.2223C>G (p.Arg741=)
c.2259C>G (p.Arg753=)
c.2235C>G (p.Arg745=)
13g.108209046G>TCA484975024LIG4c.2022C>A (p.Arg674=)
c.2223C>A (p.Arg741=)
c.2259C>A (p.Arg753=)
c.2235C>A (p.Arg745=)
13g.108209047C>ACA388613750LIG4c.2021G>T (p.Arg674Leu)
c.2222G>T (p.Arg741Leu)
c.2258G>T (p.Arg753Leu)
c.2234G>T (p.Arg745Leu)
 gnomAD v4
13g.108209047C=CA2117794026LIG4c.2021G= (p.Arg674=)
c.2222G= (p.Arg741=)
c.2258G= (p.Arg753=)
c.2234G= (p.Arg745=)
13g.108209047C>GCA388613751LIG4c.2021G>C (p.Arg674Pro)
c.2222G>C (p.Arg741Pro)
c.2258G>C (p.Arg753Pro)
c.2234G>C (p.Arg745Pro)
13g.108209047C>TCA7043543LIG4c.2021G>A (p.Arg674His)
c.2222G>A (p.Arg741His)
c.2258G>A (p.Arg753His)
c.2234G>A (p.Arg745His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.108209048G>ACA7043544LIG4c.2020C>T (p.Arg674Cys)
c.2221C>T (p.Arg741Cys)
c.2257C>T (p.Arg753Cys)
c.2233C>T (p.Arg745Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108209048G>CCA388613752LIG4c.2020C>G (p.Arg674Gly)
c.2221C>G (p.Arg741Gly)
c.2257C>G (p.Arg753Gly)
c.2233C>G (p.Arg745Gly)
13g.108209048G=CA2117794027LIG4c.2020C= (p.Arg674=)
c.2221C= (p.Arg741=)
c.2257C= (p.Arg753=)
c.2233C= (p.Arg745=)
13g.108209048G>TCA388613753LIG4c.2020C>A (p.Arg674Ser)
c.2221C>A (p.Arg741Ser)
c.2257C>A (p.Arg753Ser)
c.2233C>A (p.Arg745Ser)
13g.108209049A>CCA484975031LIG4c.2019T>G (p.Pro673=)
c.2220T>G (p.Pro740=)
c.2256T>G (p.Pro752=)
c.2232T>G (p.Pro744=)
13g.108209049A>GCA484975033LIG4c.2019T>C (p.Pro673=)
c.2220T>C (p.Pro740=)
c.2256T>C (p.Pro752=)
c.2232T>C (p.Pro744=)
13g.108209049A>TCA484975034LIG4c.2019T>A (p.Pro673=)
c.2220T>A (p.Pro740=)
c.2256T>A (p.Pro752=)
c.2232T>A (p.Pro744=)
13g.108209050G>ACA388613754LIG4c.2018C>T (p.Pro673Leu)
c.2219C>T (p.Pro740Leu)
c.2255C>T (p.Pro752Leu)
c.2231C>T (p.Pro744Leu)
 dbSNP gnomAD v3 gnomAD v4
13g.108209050G>CCA388613755LIG4c.2018C>G (p.Pro673Arg)
c.2219C>G (p.Pro740Arg)
c.2255C>G (p.Pro752Arg)
c.2231C>G (p.Pro744Arg)
 gnomAD v4
13g.108209050G=CA2117794028LIG4c.2018C= (p.Pro673=)
c.2219C= (p.Pro740=)
c.2255C= (p.Pro752=)
c.2231C= (p.Pro744=)
13g.108209050G>TCA388613756LIG4c.2018C>A (p.Pro673His)
c.2219C>A (p.Pro740His)
c.2255C>A (p.Pro752His)
c.2231C>A (p.Pro744His)
13g.108209051G>ACA388613757LIG4c.2017C>T (p.Pro673Ser)
c.2218C>T (p.Pro740Ser)
c.2254C>T (p.Pro752Ser)
c.2230C>T (p.Pro744Ser)
13g.108209051G>CCA388613758LIG4c.2017C>G (p.Pro673Ala)
c.2218C>G (p.Pro740Ala)
c.2254C>G (p.Pro752Ala)
c.2230C>G (p.Pro744Ala)
13g.108209051G>TCA388613759LIG4c.2017C>A (p.Pro673Thr)
c.2218C>A (p.Pro740Thr)
c.2254C>A (p.Pro752Thr)
c.2230C>A (p.Pro744Thr)
 gnomAD v4
13g.108209052C>ACA388613760LIG4c.2016G>T (p.Gln672His)
c.2217G>T (p.Gln739His)
c.2253G>T (p.Gln751His)
c.2229G>T (p.Gln743His)
13g.108209052C>GCA388613761LIG4c.2016G>C (p.Gln672His)
c.2217G>C (p.Gln739His)
c.2253G>C (p.Gln751His)
c.2229G>C (p.Gln743His)
13g.108209052C>TCA484975039LIG4c.2016G>A (p.Gln672=)
c.2217G>A (p.Gln739=)
c.2253G>A (p.Gln751=)
c.2229G>A (p.Gln743=)
13g.108209053T>ACA388613762LIG4c.2015A>T (p.Gln672Leu)
c.2216A>T (p.Gln739Leu)
c.2252A>T (p.Gln751Leu)
c.2228A>T (p.Gln743Leu)
13g.108209053T>CCA388613764LIG4c.2015A>G (p.Gln672Arg)
c.2216A>G (p.Gln739Arg)
c.2252A>G (p.Gln751Arg)
c.2228A>G (p.Gln743Arg)
13g.108209053T>GCA388613763LIG4c.2015A>C (p.Gln672Pro)
c.2216A>C (p.Gln739Pro)
c.2252A>C (p.Gln751Pro)
c.2228A>C (p.Gln743Pro)
 ClinVar
13g.108209054G>ACA388613765LIG4c.2014C>T (p.Gln672Ter)
c.2215C>T (p.Gln739Ter)
c.2251C>T (p.Gln751Ter)
c.2227C>T (p.Gln743Ter)
13g.108209054G>CCA388613766LIG4c.2014C>G (p.Gln672Glu)
c.2215C>G (p.Gln739Glu)
c.2251C>G (p.Gln751Glu)
c.2227C>G (p.Gln743Glu)
13g.108209054G>TCA388613767LIG4c.2014C>A (p.Gln672Lys)
c.2215C>A (p.Gln739Lys)
c.2251C>A (p.Gln751Lys)
c.2227C>A (p.Gln743Lys)
13g.108209055C>ACA388613768LIG4c.2013G>T (p.Trp671Cys)
c.2214G>T (p.Trp738Cys)
c.2250G>T (p.Trp750Cys)
c.2226G>T (p.Trp742Cys)
 gnomAD v3 gnomAD v4
13g.108209055C>GCA388613769LIG4c.2013G>C (p.Trp671Cys)
c.2214G>C (p.Trp738Cys)
c.2250G>C (p.Trp750Cys)
c.2226G>C (p.Trp742Cys)
13g.108209055C>TCA388613770LIG4c.2013G>A (p.Trp671Ter)
c.2214G>A (p.Trp738Ter)
c.2250G>A (p.Trp750Ter)
c.2226G>A (p.Trp742Ter)
13g.108209056C>ACA388613771LIG4c.2012G>T (p.Trp671Leu)
c.2213G>T (p.Trp738Leu)
c.2249G>T (p.Trp750Leu)
c.2225G>T (p.Trp742Leu)
13g.108209056C>GCA388613772LIG4c.2012G>C (p.Trp671Ser)
c.2213G>C (p.Trp738Ser)
c.2249G>C (p.Trp750Ser)
c.2225G>C (p.Trp742Ser)
13g.108209056C>TCA388613773LIG4c.2012G>A (p.Trp671Ter)
c.2213G>A (p.Trp738Ter)
c.2249G>A (p.Trp750Ter)
c.2225G>A (p.Trp742Ter)
13g.108209056_108209057delinsATCA2580087251LIG4c.2011_2012delinsAT (p.Trp671Met)
c.2212_2213delinsAT (p.Trp738Met)
c.2248_2249delinsAT (p.Trp750Met)
c.2224_2225delinsAT (p.Trp742Met)
 ClinVar
13g.108209057A=CA2117794029LIG4c.2011T= (p.Trp671=)
c.2212T= (p.Trp738=)
c.2248T= (p.Trp750=)
c.2224T= (p.Trp742=)
13g.108209057A>CCA388613774LIG4c.2011T>G (p.Trp671Gly)
c.2212T>G (p.Trp738Gly)
c.2248T>G (p.Trp750Gly)
c.2224T>G (p.Trp742Gly)
 dbSNP
13g.108209057A>GCA388613775LIG4c.2011T>C (p.Trp671Arg)
c.2212T>C (p.Trp738Arg)
c.2248T>C (p.Trp750Arg)
c.2224T>C (p.Trp742Arg)
13g.108209057A>TCA388613776LIG4c.2011T>A (p.Trp671Arg)
c.2212T>A (p.Trp738Arg)
c.2248T>A (p.Trp750Arg)
c.2224T>A (p.Trp742Arg)
13g.108209058T>ACA484975044LIG4c.2010A>T (p.Pro670=)
c.2211A>T (p.Pro737=)
c.2247A>T (p.Pro749=)
c.2223A>T (p.Pro741=)
13g.108209058T>CCA256179917LIG4c.2010A>G (p.Pro670=)
c.2211A>G (p.Pro737=)
c.2247A>G (p.Pro749=)
c.2223A>G (p.Pro741=)
 dbSNP gnomAD v3 gnomAD v4
13g.108209058T>GCA484975046LIG4c.2010A>C (p.Pro670=)
c.2211A>C (p.Pro737=)
c.2247A>C (p.Pro749=)
c.2223A>C (p.Pro741=)
 gnomAD v4
13g.108209058T=CA2117794030LIG4c.2010A= (p.Pro670=)
c.2211A= (p.Pro737=)
c.2247A= (p.Pro749=)
c.2223A= (p.Pro741=)
13g.108209059G>ACA256179928LIG4c.2009C>T (p.Pro670Leu)
c.2210C>T (p.Pro737Leu)
c.2246C>T (p.Pro749Leu)
c.2222C>T (p.Pro741Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108209059G>CCA388613777LIG4c.2009C>G (p.Pro670Arg)
c.2210C>G (p.Pro737Arg)
c.2246C>G (p.Pro749Arg)
c.2222C>G (p.Pro741Arg)
13g.108209059G=CA2117794031LIG4c.2009C= (p.Pro670=)
c.2210C= (p.Pro737=)
c.2246C= (p.Pro749=)
c.2222C= (p.Pro741=)
13g.108209059G>TCA388613778LIG4c.2009C>A (p.Pro670Gln)
c.2210C>A (p.Pro737Gln)
c.2246C>A (p.Pro749Gln)
c.2222C>A (p.Pro741Gln)
13g.108209060G>ACA388613779LIG4c.2008C>T (p.Pro670Ser)
c.2209C>T (p.Pro737Ser)
c.2245C>T (p.Pro749Ser)
c.2221C>T (p.Pro741Ser)
 gnomAD v4
13g.108209060G>CCA388613780LIG4c.2008C>G (p.Pro670Ala)
c.2209C>G (p.Pro737Ala)
c.2245C>G (p.Pro749Ala)
c.2221C>G (p.Pro741Ala)
13g.108209060G>TCA388613781LIG4c.2008C>A (p.Pro670Thr)
c.2209C>A (p.Pro737Thr)
c.2245C>A (p.Pro749Thr)
c.2221C>A (p.Pro741Thr)

Number of alleles fetched