Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
13g.108208876T>ACA388613309LIG4c.2192A>T (p.Asp731Val)
c.2393A>T (p.Asp798Val)
c.2429A>T (p.Asp810Val)
c.2405A>T (p.Asp802Val)
dbSNP gnomAD v3 gnomAD v4
13g.108208876T>CCA388613310LIG4c.2192A>G (p.Asp731Gly)
c.2393A>G (p.Asp798Gly)
c.2429A>G (p.Asp810Gly)
c.2405A>G (p.Asp802Gly)
13g.108208876T>GCA7043514LIG4c.2192A>C (p.Asp731Ala)
c.2393A>C (p.Asp798Ala)
c.2429A>C (p.Asp810Ala)
c.2405A>C (p.Asp802Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208876T=CA2117793956LIG4c.2192A= (p.Asp731=)
c.2393A= (p.Asp798=)
c.2429A= (p.Asp810=)
c.2405A= (p.Asp802=)
13g.108208877C>ACA388613312LIG4c.2191G>T (p.Asp731Tyr)
c.2392G>T (p.Asp798Tyr)
c.2428G>T (p.Asp810Tyr)
c.2404G>T (p.Asp802Tyr)
dbSNP gnomAD v4
13g.108208877C=CA2117793957LIG4c.2191G= (p.Asp731=)
c.2392G= (p.Asp798=)
c.2428G= (p.Asp810=)
c.2404G= (p.Asp802=)
13g.108208877C>GCA388613313LIG4c.2191G>C (p.Asp731His)
c.2392G>C (p.Asp798His)
c.2428G>C (p.Asp810His)
c.2404G>C (p.Asp802His)
13g.108208877C>TCA388613315LIG4c.2191G>A (p.Asp731Asn)
c.2392G>A (p.Asp798Asn)
c.2428G>A (p.Asp810Asn)
c.2404G>A (p.Asp802Asn)
13g.108208878A>CCA484975273LIG4c.2190T>G (p.Ala730=)
c.2391T>G (p.Ala797=)
c.2427T>G (p.Ala809=)
c.2403T>G (p.Ala801=)
13g.108208878A>GCA484975274LIG4c.2190T>C (p.Ala730=)
c.2391T>C (p.Ala797=)
c.2427T>C (p.Ala809=)
c.2403T>C (p.Ala801=)
13g.108208878A>TCA484975275LIG4c.2190T>A (p.Ala730=)
c.2391T>A (p.Ala797=)
c.2427T>A (p.Ala809=)
c.2403T>A (p.Ala801=)
13g.108208879G>ACA7043515LIG4c.2189C>T (p.Ala730Val)
c.2390C>T (p.Ala797Val)
c.2426C>T (p.Ala809Val)
c.2402C>T (p.Ala801Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208879G>CCA388613317LIG4c.2189C>G (p.Ala730Gly)
c.2390C>G (p.Ala797Gly)
c.2426C>G (p.Ala809Gly)
c.2402C>G (p.Ala801Gly)
13g.108208879G=CA2117793958LIG4c.2189C= (p.Ala730=)
c.2390C= (p.Ala797=)
c.2426C= (p.Ala809=)
c.2402C= (p.Ala801=)
13g.108208879G>TCA388613319LIG4c.2189C>A (p.Ala730Asp)
c.2390C>A (p.Ala797Asp)
c.2426C>A (p.Ala809Asp)
c.2402C>A (p.Ala801Asp)
13g.108208880C>ACA7043516LIG4c.2188G>T (p.Ala730Ser)
c.2389G>T (p.Ala797Ser)
c.2425G>T (p.Ala809Ser)
c.2401G>T (p.Ala801Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208880C=CA2117793959LIG4c.2188G= (p.Ala730=)
c.2389G= (p.Ala797=)
c.2425G= (p.Ala809=)
c.2401G= (p.Ala801=)
13g.108208880C>GCA388613321LIG4c.2188G>C (p.Ala730Pro)
c.2389G>C (p.Ala797Pro)
c.2425G>C (p.Ala809Pro)
c.2401G>C (p.Ala801Pro)
13g.108208880C>TCA388613323LIG4c.2188G>A (p.Ala730Thr)
c.2389G>A (p.Ala797Thr)
c.2425G>A (p.Ala809Thr)
c.2401G>A (p.Ala801Thr)
13g.108208882_108208885dupCA2695218920LIG4c.2185_2188dup (p.Ala730AspfsTer3)
c.2386_2389dup (p.Ala797AspfsTer3)
c.2422_2425dup (p.Ala809AspfsTer3)
c.2398_2401dup (p.Ala801AspfsTer3)
13g.108208881A=CA2117793960LIG4c.2187T= (p.Ile729=)
c.2388T= (p.Ile796=)
c.2424T= (p.Ile808=)
c.2400T= (p.Ile800=)
13g.108208881A>CCA388613325LIG4c.2187T>G (p.Ile729Met)
c.2388T>G (p.Ile796Met)
c.2424T>G (p.Ile808Met)
c.2400T>G (p.Ile800Met)
ClinVar dbSNP gnomAD v4
13g.108208881A>GCA484975279LIG4c.2187T>C (p.Ile729=)
c.2388T>C (p.Ile796=)
c.2424T>C (p.Ile808=)
c.2400T>C (p.Ile800=)
ClinVar
13g.108208881A>TCA484975281LIG4c.2187T>A (p.Ile729=)
c.2388T>A (p.Ile796=)
c.2424T>A (p.Ile808=)
c.2400T>A (p.Ile800=)
13g.108208882A=CA2117793961LIG4c.2186T= (p.Ile729=)
c.2387T= (p.Ile796=)
c.2423T= (p.Ile808=)
c.2399T= (p.Ile800=)
13g.108208882A>CCA388613327LIG4c.2186T>G (p.Ile729Ser)
c.2387T>G (p.Ile796Ser)
c.2423T>G (p.Ile808Ser)
c.2399T>G (p.Ile800Ser)
ClinVar dbSNP
13g.108208882A>GCA256179425LIG4c.2186T>C (p.Ile729Thr)
c.2387T>C (p.Ile796Thr)
c.2423T>C (p.Ile808Thr)
c.2399T>C (p.Ile800Thr)
dbSNP
13g.108208882A>TCA388613328LIG4c.2186T>A (p.Ile729Asn)
c.2387T>A (p.Ile796Asn)
c.2423T>A (p.Ile808Asn)
c.2399T>A (p.Ile800Asn)
13g.108208883T>ACA388613329LIG4c.2185A>T (p.Ile729Phe)
c.2386A>T (p.Ile796Phe)
c.2422A>T (p.Ile808Phe)
c.2398A>T (p.Ile800Phe)
13g.108208883T>CCA388613331LIG4c.2185A>G (p.Ile729Val)
c.2386A>G (p.Ile796Val)
c.2422A>G (p.Ile808Val)
c.2398A>G (p.Ile800Val)
dbSNP gnomAD v2 gnomAD v4
13g.108208883T>GCA388613333LIG4c.2185A>C (p.Ile729Leu)
c.2386A>C (p.Ile796Leu)
c.2422A>C (p.Ile808Leu)
c.2398A>C (p.Ile800Leu)
13g.108208883T=CA2117793962LIG4c.2185A= (p.Ile729=)
c.2386A= (p.Ile796=)
c.2422A= (p.Ile808=)
c.2398A= (p.Ile800=)
13g.108208884C>ACA484975283LIG4c.2184G>T (p.Leu728=)
c.2385G>T (p.Leu795=)
c.2421G>T (p.Leu807=)
c.2397G>T (p.Leu799=)
COSMIC
13g.108208884C>GCA484975284LIG4c.2184G>C (p.Leu728=)
c.2385G>C (p.Leu795=)
c.2421G>C (p.Leu807=)
c.2397G>C (p.Leu799=)
13g.108208884C>TCA484975285LIG4c.2184G>A (p.Leu728=)
c.2385G>A (p.Leu795=)
c.2421G>A (p.Leu807=)
c.2397G>A (p.Leu799=)
13g.108208885A=CA2117793963LIG4c.2183T= (p.Leu728=)
c.2384T= (p.Leu795=)
c.2420T= (p.Leu807=)
c.2396T= (p.Leu799=)
13g.108208885A>CCA388613334LIG4c.2183T>G (p.Leu728Arg)
c.2384T>G (p.Leu795Arg)
c.2420T>G (p.Leu807Arg)
c.2396T>G (p.Leu799Arg)
COSMIC
13g.108208885A>GCA388613335LIG4c.2183T>C (p.Leu728Pro)
c.2384T>C (p.Leu795Pro)
c.2420T>C (p.Leu807Pro)
c.2396T>C (p.Leu799Pro)
dbSNP gnomAD v2 gnomAD v4
13g.108208885A>TCA388613337LIG4c.2183T>A (p.Leu728Gln)
c.2384T>A (p.Leu795Gln)
c.2420T>A (p.Leu807Gln)
c.2396T>A (p.Leu799Gln)
13g.108208886G>ACA484975286LIG4c.2182C>T (p.Leu728=)
c.2383C>T (p.Leu795=)
c.2419C>T (p.Leu807=)
c.2395C>T (p.Leu799=)
13g.108208886G>CCA388613340LIG4c.2182C>G (p.Leu728Val)
c.2383C>G (p.Leu795Val)
c.2419C>G (p.Leu807Val)
c.2395C>G (p.Leu799Val)
13g.108208886G>TCA388613339LIG4c.2182C>A (p.Leu728Met)
c.2383C>A (p.Leu795Met)
c.2419C>A (p.Leu807Met)
c.2395C>A (p.Leu799Met)
13g.108208887A>CCA484975288LIG4c.2181T>G (p.Ser727=)
c.2382T>G (p.Ser794=)
c.2418T>G (p.Ser806=)
c.2394T>G (p.Ser798=)
13g.108208887A>GCA484975292LIG4c.2181T>C (p.Ser727=)
c.2382T>C (p.Ser794=)
c.2418T>C (p.Ser806=)
c.2394T>C (p.Ser798=)
13g.108208887A>TCA484975289LIG4c.2181T>A (p.Ser727=)
c.2382T>A (p.Ser794=)
c.2418T>A (p.Ser806=)
c.2394T>A (p.Ser798=)
13g.108208888G>ACA388613342LIG4c.2180C>T (p.Ser727Phe)
c.2381C>T (p.Ser794Phe)
c.2417C>T (p.Ser806Phe)
c.2393C>T (p.Ser798Phe)
gnomAD v4
13g.108208888G>CCA388613345LIG4c.2180C>G (p.Ser727Cys)
c.2381C>G (p.Ser794Cys)
c.2417C>G (p.Ser806Cys)
c.2393C>G (p.Ser798Cys)
13g.108208888G>TCA388613343LIG4c.2180C>A (p.Ser727Tyr)
c.2381C>A (p.Ser794Tyr)
c.2417C>A (p.Ser806Tyr)
c.2393C>A (p.Ser798Tyr)
13g.108208889A>CCA388613347LIG4c.2179T>G (p.Ser727Ala)
c.2380T>G (p.Ser794Ala)
c.2416T>G (p.Ser806Ala)
c.2392T>G (p.Ser798Ala)
13g.108208889A>GCA388613350LIG4c.2179T>C (p.Ser727Pro)
c.2380T>C (p.Ser794Pro)
c.2416T>C (p.Ser806Pro)
c.2392T>C (p.Ser798Pro)
gnomAD v4
13g.108208889A>TCA388613348LIG4c.2179T>A (p.Ser727Thr)
c.2380T>A (p.Ser794Thr)
c.2416T>A (p.Ser806Thr)
c.2392T>A (p.Ser798Thr)
13g.108208890A>CCA484975295LIG4c.2178T>G (p.Ala726=)
c.2379T>G (p.Ala793=)
c.2415T>G (p.Ala805=)
c.2391T>G (p.Ala797=)
13g.108208890A>GCA484975296LIG4c.2178T>C (p.Ala726=)
c.2379T>C (p.Ala793=)
c.2415T>C (p.Ala805=)
c.2391T>C (p.Ala797=)
13g.108208890A>TCA484975297LIG4c.2178T>A (p.Ala726=)
c.2379T>A (p.Ala793=)
c.2415T>A (p.Ala805=)
c.2391T>A (p.Ala797=)
13g.108208891G>ACA388613351LIG4c.2177C>T (p.Ala726Val)
c.2378C>T (p.Ala793Val)
c.2414C>T (p.Ala805Val)
c.2390C>T (p.Ala797Val)
dbSNP gnomAD v4
13g.108208891G>CCA388613355LIG4c.2177C>G (p.Ala726Gly)
c.2378C>G (p.Ala793Gly)
c.2414C>G (p.Ala805Gly)
c.2390C>G (p.Ala797Gly)
13g.108208891G=CA2117793964LIG4c.2177C= (p.Ala726=)
c.2378C= (p.Ala793=)
c.2414C= (p.Ala805=)
c.2390C= (p.Ala797=)
13g.108208891G>TCA388613353LIG4c.2177C>A (p.Ala726Asp)
c.2378C>A (p.Ala793Asp)
c.2414C>A (p.Ala805Asp)
c.2390C>A (p.Ala797Asp)
13g.108208892C>ACA388613357LIG4c.2176G>T (p.Ala726Ser)
c.2377G>T (p.Ala793Ser)
c.2413G>T (p.Ala805Ser)
c.2389G>T (p.Ala797Ser)
gnomAD v4
13g.108208892C>GCA388613359LIG4c.2176G>C (p.Ala726Pro)
c.2377G>C (p.Ala793Pro)
c.2413G>C (p.Ala805Pro)
c.2389G>C (p.Ala797Pro)
gnomAD v4
13g.108208892C>TCA388613358LIG4c.2176G>A (p.Ala726Thr)
c.2377G>A (p.Ala793Thr)
c.2413G>A (p.Ala805Thr)
c.2389G>A (p.Ala797Thr)
13g.108208893C>ACA388613361LIG4c.2175G>T (p.Met725Ile)
c.2376G>T (p.Met792Ile)
c.2412G>T (p.Met804Ile)
c.2388G>T (p.Met796Ile)
13g.108208893C>GCA388613365LIG4c.2175G>C (p.Met725Ile)
c.2376G>C (p.Met792Ile)
c.2412G>C (p.Met804Ile)
c.2388G>C (p.Met796Ile)
13g.108208893C>TCA388613363LIG4c.2175G>A (p.Met725Ile)
c.2376G>A (p.Met792Ile)
c.2412G>A (p.Met804Ile)
c.2388G>A (p.Met796Ile)
13g.108208894A>CCA388613367LIG4c.2174T>G (p.Met725Arg)
c.2375T>G (p.Met792Arg)
c.2411T>G (p.Met804Arg)
c.2387T>G (p.Met796Arg)
13g.108208894A>GCA388613369LIG4c.2174T>C (p.Met725Thr)
c.2375T>C (p.Met792Thr)
c.2411T>C (p.Met804Thr)
c.2387T>C (p.Met796Thr)
13g.108208894A>TCA388613370LIG4c.2174T>A (p.Met725Lys)
c.2375T>A (p.Met792Lys)
c.2411T>A (p.Met804Lys)
c.2387T>A (p.Met796Lys)
13g.108208895T>ACA388613373LIG4c.2173A>T (p.Met725Leu)
c.2374A>T (p.Met792Leu)
c.2410A>T (p.Met804Leu)
c.2386A>T (p.Met796Leu)
13g.108208895T>CCA256179433LIG4c.2173A>G (p.Met725Val)
c.2374A>G (p.Met792Val)
c.2410A>G (p.Met804Val)
c.2386A>G (p.Met796Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108208895T>GCA388613374LIG4c.2173A>C (p.Met725Leu)
c.2374A>C (p.Met792Leu)
c.2410A>C (p.Met804Leu)
c.2386A>C (p.Met796Leu)
13g.108208895T=CA2117793965LIG4c.2173A= (p.Met725=)
c.2374A= (p.Met792=)
c.2410A= (p.Met804=)
c.2386A= (p.Met796=)
13g.108208896T>ACA388613376LIG4c.2172A>T (p.Glu724Asp)
c.2373A>T (p.Glu791Asp)
c.2409A>T (p.Glu803Asp)
c.2385A>T (p.Glu795Asp)
13g.108208896T>CCA484975301LIG4c.2172A>G (p.Glu724=)
c.2373A>G (p.Glu791=)
c.2409A>G (p.Glu803=)
c.2385A>G (p.Glu795=)
13g.108208896T>GCA388613377LIG4c.2172A>C (p.Glu724Asp)
c.2373A>C (p.Glu791Asp)
c.2409A>C (p.Glu803Asp)
c.2385A>C (p.Glu795Asp)
gnomAD v4
13g.108208897T>ACA388613378LIG4c.2171A>T (p.Glu724Val)
c.2372A>T (p.Glu791Val)
c.2408A>T (p.Glu803Val)
c.2384A>T (p.Glu795Val)
13g.108208897T>CCA388613380LIG4c.2171A>G (p.Glu724Gly)
c.2372A>G (p.Glu791Gly)
c.2408A>G (p.Glu803Gly)
c.2384A>G (p.Glu795Gly)
13g.108208897T>GCA256179446LIG4c.2171A>C (p.Glu724Ala)
c.2372A>C (p.Glu791Ala)
c.2408A>C (p.Glu803Ala)
c.2384A>C (p.Glu795Ala)
dbSNP
13g.108208897T=CA2117793966LIG4c.2171A= (p.Glu724=)
c.2372A= (p.Glu791=)
c.2408A= (p.Glu803=)
c.2384A= (p.Glu795=)
13g.108208898C>ACA388613385LIG4c.2170G>T (p.Glu724Ter)
c.2371G>T (p.Glu791Ter)
c.2407G>T (p.Glu803Ter)
c.2383G>T (p.Glu795Ter)
13g.108208898C>GCA388613382LIG4c.2170G>C (p.Glu724Gln)
c.2371G>C (p.Glu791Gln)
c.2407G>C (p.Glu803Gln)
c.2383G>C (p.Glu795Gln)
13g.108208898C>TCA388613383LIG4c.2170G>A (p.Glu724Lys)
c.2371G>A (p.Glu791Lys)
c.2407G>A (p.Glu803Lys)
c.2383G>A (p.Glu795Lys)
13g.108208899T>ACA388613387LIG4c.2169A>T (p.Glu723Asp)
c.2370A>T (p.Glu790Asp)
c.2406A>T (p.Glu802Asp)
c.2382A>T (p.Glu794Asp)
gnomAD v4
13g.108208899T>CCA7043517LIG4c.2169A>G (p.Glu723=)
c.2370A>G (p.Glu790=)
c.2406A>G (p.Glu802=)
c.2382A>G (p.Glu794=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.108208899T>GCA388613389LIG4c.2169A>C (p.Glu723Asp)
c.2370A>C (p.Glu790Asp)
c.2406A>C (p.Glu802Asp)
c.2382A>C (p.Glu794Asp)
13g.108208899T=CA2117793967LIG4c.2169A= (p.Glu723=)
c.2370A= (p.Glu790=)
c.2406A= (p.Glu802=)
c.2382A= (p.Glu794=)
13g.108208900T>ACA388613390LIG4c.2168A>T (p.Glu723Val)
c.2369A>T (p.Glu790Val)
c.2405A>T (p.Glu802Val)
c.2381A>T (p.Glu794Val)
13g.108208900T>CCA388613392LIG4c.2168A>G (p.Glu723Gly)
c.2369A>G (p.Glu790Gly)
c.2405A>G (p.Glu802Gly)
c.2381A>G (p.Glu794Gly)
13g.108208900T>GCA388613394LIG4c.2168A>C (p.Glu723Ala)
c.2369A>C (p.Glu790Ala)
c.2405A>C (p.Glu802Ala)
c.2381A>C (p.Glu794Ala)
13g.108208901C>ACA388613395LIG4c.2167G>T (p.Glu723Ter)
c.2368G>T (p.Glu790Ter)
c.2404G>T (p.Glu802Ter)
c.2380G>T (p.Glu794Ter)
13g.108208901C>GCA388613396LIG4c.2167G>C (p.Glu723Gln)
c.2368G>C (p.Glu790Gln)
c.2404G>C (p.Glu802Gln)
c.2380G>C (p.Glu794Gln)
13g.108208901C>TCA388613397LIG4c.2167G>A (p.Glu723Lys)
c.2368G>A (p.Glu790Lys)
c.2404G>A (p.Glu802Lys)
c.2380G>A (p.Glu794Lys)
gnomAD v4
13g.108208902A>CCA484975315LIG4c.2166T>G (p.Pro722=)
c.2367T>G (p.Pro789=)
c.2403T>G (p.Pro801=)
c.2379T>G (p.Pro793=)
13g.108208902A>GCA484975312LIG4c.2166T>C (p.Pro722=)
c.2367T>C (p.Pro789=)
c.2403T>C (p.Pro801=)
c.2379T>C (p.Pro793=)
13g.108208902A>TCA484975314LIG4c.2166T>A (p.Pro722=)
c.2367T>A (p.Pro789=)
c.2403T>A (p.Pro801=)
c.2379T>A (p.Pro793=)
13g.108208903G>ACA388613403LIG4c.2165C>T (p.Pro722Leu)
c.2366C>T (p.Pro789Leu)
c.2402C>T (p.Pro801Leu)
c.2378C>T (p.Pro793Leu)
gnomAD v4
13g.108208903G>CCA388613401LIG4c.2165C>G (p.Pro722Arg)
c.2366C>G (p.Pro789Arg)
c.2402C>G (p.Pro801Arg)
c.2378C>G (p.Pro793Arg)
13g.108208903G>TCA388613399LIG4c.2165C>A (p.Pro722His)
c.2366C>A (p.Pro789His)
c.2402C>A (p.Pro801His)
c.2378C>A (p.Pro793His)
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=)

Number of alleles fetched