Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108208829G>ACA118975LIG4c.2239C>T (p.Arg747Ter)
c.2440C>T (p.Arg814Ter)
c.2476C>T (p.Arg826Ter)
c.2452C>T (p.Arg818Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208829G>CCA388613139LIG4c.2239C>G (p.Arg747Gly)
c.2440C>G (p.Arg814Gly)
c.2476C>G (p.Arg826Gly)
c.2452C>G (p.Arg818Gly)
gnomAD v4
13g.108208829G=CA2117793934LIG4c.2239C= (p.Arg747=)
c.2440C= (p.Arg814=)
c.2476C= (p.Arg826=)
c.2452C= (p.Arg818=)
13g.108208829G>TCA484975078LIG4c.2239C>A (p.Arg747=)
c.2440C>A (p.Arg814=)
c.2476C>A (p.Arg826=)
c.2452C>A (p.Arg818=)
gnomAD v4
13g.108208830A>CCA388613141LIG4c.2238T>G (p.Phe746Leu)
c.2439T>G (p.Phe813Leu)
c.2475T>G (p.Phe825Leu)
c.2451T>G (p.Phe817Leu)
13g.108208830A>GCA484975083LIG4c.2238T>C (p.Phe746=)
c.2439T>C (p.Phe813=)
c.2475T>C (p.Phe825=)
c.2451T>C (p.Phe817=)
13g.108208830A>TCA388613143LIG4c.2238T>A (p.Phe746Leu)
c.2439T>A (p.Phe813Leu)
c.2475T>A (p.Phe825Leu)
c.2451T>A (p.Phe817Leu)
13g.108208831A>CCA388613144LIG4c.2237T>G (p.Phe746Cys)
c.2438T>G (p.Phe813Cys)
c.2474T>G (p.Phe825Cys)
c.2450T>G (p.Phe817Cys)
13g.108208831A>GCA388613146LIG4c.2237T>C (p.Phe746Ser)
c.2438T>C (p.Phe813Ser)
c.2474T>C (p.Phe825Ser)
c.2450T>C (p.Phe817Ser)
13g.108208831A>TCA388613148LIG4c.2237T>A (p.Phe746Tyr)
c.2438T>A (p.Phe813Tyr)
c.2474T>A (p.Phe825Tyr)
c.2450T>A (p.Phe817Tyr)
13g.108208832A=CA2117793935LIG4c.2236T= (p.Phe746=)
c.2437T= (p.Phe813=)
c.2473T= (p.Phe825=)
c.2449T= (p.Phe817=)
13g.108208832A>CCA388613150LIG4c.2236T>G (p.Phe746Val)
c.2437T>G (p.Phe813Val)
c.2473T>G (p.Phe825Val)
c.2449T>G (p.Phe817Val)
13g.108208832A>GCA388613151LIG4c.2236T>C (p.Phe746Leu)
c.2437T>C (p.Phe813Leu)
c.2473T>C (p.Phe825Leu)
c.2449T>C (p.Phe817Leu)
dbSNP
13g.108208832A>TCA388613153LIG4c.2236T>A (p.Phe746Ile)
c.2437T>A (p.Phe813Ile)
c.2473T>A (p.Phe825Ile)
c.2449T>A (p.Phe817Ile)
13g.108208833C>ACA388613154LIG4c.2235G>T (p.Met745Ile)
c.2436G>T (p.Met812Ile)
c.2472G>T (p.Met824Ile)
c.2448G>T (p.Met816Ile)
13g.108208833C=CA2117793936LIG4c.2235G= (p.Met745=)
c.2436G= (p.Met812=)
c.2472G= (p.Met824=)
c.2448G= (p.Met816=)
13g.108208833C>GCA388613156LIG4c.2235G>C (p.Met745Ile)
c.2436G>C (p.Met812Ile)
c.2472G>C (p.Met824Ile)
c.2448G>C (p.Met816Ile)
13g.108208833C>TCA7043500LIG4c.2235G>A (p.Met745Ile)
c.2436G>A (p.Met812Ile)
c.2472G>A (p.Met824Ile)
c.2448G>A (p.Met816Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208834A=CA2117793937LIG4c.2234T= (p.Met745=)
c.2435T= (p.Met812=)
c.2471T= (p.Met824=)
c.2447T= (p.Met816=)
13g.108208834A>CCA7043501LIG4c.2234T>G (p.Met745Arg)
c.2435T>G (p.Met812Arg)
c.2471T>G (p.Met824Arg)
c.2447T>G (p.Met816Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208834A>GCA388613160LIG4c.2234T>C (p.Met745Thr)
c.2435T>C (p.Met812Thr)
c.2471T>C (p.Met824Thr)
c.2447T>C (p.Met816Thr)
gnomAD v4
13g.108208834A>TCA388613159LIG4c.2234T>A (p.Met745Lys)
c.2435T>A (p.Met812Lys)
c.2471T>A (p.Met824Lys)
c.2447T>A (p.Met816Lys)
13g.108208835T>ACA388613161LIG4c.2233A>T (p.Met745Leu)
c.2434A>T (p.Met812Leu)
c.2470A>T (p.Met824Leu)
c.2446A>T (p.Met816Leu)
13g.108208835T>CCA7043502LIG4c.2233A>G (p.Met745Val)
c.2434A>G (p.Met812Val)
c.2470A>G (p.Met824Val)
c.2446A>G (p.Met816Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208835T>GCA388613163LIG4c.2233A>C (p.Met745Leu)
c.2434A>C (p.Met812Leu)
c.2470A>C (p.Met824Leu)
c.2446A>C (p.Met816Leu)
13g.108208835T=CA2117793938LIG4c.2233A= (p.Met745=)
c.2434A= (p.Met812=)
c.2470A= (p.Met824=)
c.2446A= (p.Met816=)
13g.108208836A>CCA388613165LIG4c.2232T>G (p.Ser744Arg)
c.2433T>G (p.Ser811Arg)
c.2469T>G (p.Ser823Arg)
c.2445T>G (p.Ser815Arg)
13g.108208836A>GCA484975192LIG4c.2232T>C (p.Ser744=)
c.2433T>C (p.Ser811=)
c.2469T>C (p.Ser823=)
c.2445T>C (p.Ser815=)
gnomAD v4
13g.108208836A>TCA388613166LIG4c.2232T>A (p.Ser744Arg)
c.2433T>A (p.Ser811Arg)
c.2469T>A (p.Ser823Arg)
c.2445T>A (p.Ser815Arg)
13g.108208837C>ACA388613168LIG4c.2231G>T (p.Ser744Ile)
c.2432G>T (p.Ser811Ile)
c.2468G>T (p.Ser823Ile)
c.2444G>T (p.Ser815Ile)
13g.108208837C>GCA388613170LIG4c.2231G>C (p.Ser744Thr)
c.2432G>C (p.Ser811Thr)
c.2468G>C (p.Ser823Thr)
c.2444G>C (p.Ser815Thr)
13g.108208837C>TCA388613172LIG4c.2231G>A (p.Ser744Asn)
c.2432G>A (p.Ser811Asn)
c.2468G>A (p.Ser823Asn)
c.2444G>A (p.Ser815Asn)
13g.108208838T>ACA388613173LIG4c.2230A>T (p.Ser744Cys)
c.2431A>T (p.Ser811Cys)
c.2467A>T (p.Ser823Cys)
c.2443A>T (p.Ser815Cys)
13g.108208838T>CCA388613175LIG4c.2230A>G (p.Ser744Gly)
c.2431A>G (p.Ser811Gly)
c.2467A>G (p.Ser823Gly)
c.2443A>G (p.Ser815Gly)
dbSNP gnomAD v2 gnomAD v4
13g.108208838T>GCA388613176LIG4c.2230A>C (p.Ser744Arg)
c.2431A>C (p.Ser811Arg)
c.2467A>C (p.Ser823Arg)
c.2443A>C (p.Ser815Arg)
13g.108208838T=CA2117793939LIG4c.2230A= (p.Ser744=)
c.2431A= (p.Ser811=)
c.2467A= (p.Ser823=)
c.2443A= (p.Ser815=)
13g.108208838_108208843delinsTGAGAGCA2117793940LIG4c.2225_2230delinsCTCTCA (p.Pro742=)
c.2426_2431delinsCTCTCA (p.Pro809=)
c.2462_2467delinsCTCTCA (p.Pro821=)
c.2438_2443delinsCTCTCA (p.Pro813=)
13g.108208839G>ACA7043503LIG4c.2229C>T (p.Leu743=)
c.2430C>T (p.Leu810=)
c.2466C>T (p.Leu822=)
c.2442C>T (p.Leu814=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.108208839G>CCA484975199LIG4c.2229C>G (p.Leu743=)
c.2430C>G (p.Leu810=)
c.2466C>G (p.Leu822=)
c.2442C>G (p.Leu814=)
dbSNP
13g.108208839G=CA2117793941LIG4c.2229C= (p.Leu743=)
c.2430C= (p.Leu810=)
c.2466C= (p.Leu822=)
c.2442C= (p.Leu814=)
13g.108208839G>TCA484975197LIG4c.2229C>A (p.Leu743=)
c.2430C>A (p.Leu810=)
c.2466C>A (p.Leu822=)
c.2442C>A (p.Leu814=)
13g.108208844_108208848delCA960044961LIG4c.2225_2229del (p.Pro742GlnfsTer17)
c.2426_2430del (p.Pro809GlnfsTer17)
c.2462_2466del (p.Pro821GlnfsTer17)
c.2438_2442del (p.Pro813GlnfsTer17)
dbSNP gnomAD v3 gnomAD v4
13g.108208840A>CCA388613179LIG4c.2228T>G (p.Leu743Arg)
c.2429T>G (p.Leu810Arg)
c.2465T>G (p.Leu822Arg)
c.2441T>G (p.Leu814Arg)
13g.108208840A>GCA388613180LIG4c.2228T>C (p.Leu743Pro)
c.2429T>C (p.Leu810Pro)
c.2465T>C (p.Leu822Pro)
c.2441T>C (p.Leu814Pro)
13g.108208840A>TCA388613182LIG4c.2228T>A (p.Leu743His)
c.2429T>A (p.Leu810His)
c.2465T>A (p.Leu822His)
c.2441T>A (p.Leu814His)
13g.108208841G>ACA7043504LIG4c.2227C>T (p.Leu743Phe)
c.2428C>T (p.Leu810Phe)
c.2464C>T (p.Leu822Phe)
c.2440C>T (p.Leu814Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.108208841G>CCA388613185LIG4c.2227C>G (p.Leu743Val)
c.2428C>G (p.Leu810Val)
c.2464C>G (p.Leu822Val)
c.2440C>G (p.Leu814Val)
COSMIC
13g.108208841G=CA2117793942LIG4c.2227C= (p.Leu743=)
c.2428C= (p.Leu810=)
c.2464C= (p.Leu822=)
c.2440C= (p.Leu814=)
13g.108208841G>TCA388613186LIG4c.2227C>A (p.Leu743Ile)
c.2428C>A (p.Leu810Ile)
c.2464C>A (p.Leu822Ile)
c.2440C>A (p.Leu814Ile)
13g.108208842A=CA2117793943LIG4c.2226T= (p.Pro742=)
c.2427T= (p.Pro809=)
c.2463T= (p.Pro821=)
c.2439T= (p.Pro813=)

Number of alleles fetched