Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.108211151T>ACA388624479LIG4c.-84A>T (n.-84A>T)
c.118A>T (p.Arg40Trp)
c.154A>T (p.Arg52Trp)
c.130A>T (p.Arg44Trp)
13g.108211151T>CCA388624480LIG4c.-84A>G (n.-84A>G)
c.118A>G (p.Arg40Gly)
c.154A>G (p.Arg52Gly)
c.130A>G (p.Arg44Gly)
 dbSNP gnomAD v2 gnomAD v4
13g.108211151T>GCA484976308LIG4c.-84A>C (n.-84A>C)
c.118A>C (p.Arg40=)
c.154A>C (p.Arg52=)
c.130A>C (p.Arg44=)
13g.108211151T=CA2117794896LIG4c.-84A= (n.-84A=)
c.118A= (p.Arg40=)
c.154A= (p.Arg52=)
c.130A= (p.Arg44=)
13g.108211152G>ACA484976309LIG4c.-85C>T (n.-85C>T)
c.117C>T (p.Phe39=)
c.153C>T (p.Phe51=)
c.129C>T (p.Phe43=)
 COSMIC
13g.108211152G>CCA388624482LIG4c.-85C>G (n.-85C>G)
c.117C>G (p.Phe39Leu)
c.153C>G (p.Phe51Leu)
c.129C>G (p.Phe43Leu)
 dbSNP gnomAD v2 gnomAD v4
13g.108211152G=CA2117794897LIG4c.-85C= (n.-85C=)
c.117C= (p.Phe39=)
c.153C= (p.Phe51=)
c.129C= (p.Phe43=)
13g.108211152G>TCA388624483LIG4c.-85C>A (n.-85C>A)
c.117C>A (p.Phe39Leu)
c.153C>A (p.Phe51Leu)
c.129C>A (p.Phe43Leu)
 ClinVar dbSNP
13g.108211153A>CCA388624486LIG4c.-86T>G (n.-86T>G)
c.116T>G (p.Phe39Cys)
c.152T>G (p.Phe51Cys)
c.128T>G (p.Phe43Cys)
 ClinVar
13g.108211153A>GCA388624489LIG4c.-86T>C (n.-86T>C)
c.116T>C (p.Phe39Ser)
c.152T>C (p.Phe51Ser)
c.128T>C (p.Phe43Ser)
13g.108211153A>TCA388624492LIG4c.-86T>A (n.-86T>A)
c.116T>A (p.Phe39Tyr)
c.152T>A (p.Phe51Tyr)
c.128T>A (p.Phe43Tyr)
13g.108211154A>CCA388624497LIG4c.-87T>G (n.-87T>G)
c.115T>G (p.Phe39Val)
c.151T>G (p.Phe51Val)
c.127T>G (p.Phe43Val)
 gnomAD v4
13g.108211154A>GCA388624494LIG4c.-87T>C (n.-87T>C)
c.115T>C (p.Phe39Leu)
c.151T>C (p.Phe51Leu)
c.127T>C (p.Phe43Leu)
13g.108211154A>TCA388624496LIG4c.-87T>A (n.-87T>A)
c.115T>A (p.Phe39Ile)
c.151T>A (p.Phe51Ile)
c.127T>A (p.Phe43Ile)
13g.108211155G>ACA484976311LIG4c.-88C>T (n.-88C>T)
c.114C>T (p.His38=)
c.150C>T (p.His50=)
c.126C>T (p.His42=)
13g.108211155G>CCA388624498LIG4c.-88C>G (n.-88C>G)
c.114C>G (p.His38Gln)
c.150C>G (p.His50Gln)
c.126C>G (p.His42Gln)
13g.108211155G>TCA388624499LIG4c.-88C>A (n.-88C>A)
c.114C>A (p.His38Gln)
c.150C>A (p.His50Gln)
c.126C>A (p.His42Gln)
13g.108211156T>ACA388624501LIG4c.-89A>T (n.-89A>T)
c.113A>T (p.His38Leu)
c.149A>T (p.His50Leu)
c.125A>T (p.His42Leu)
13g.108211156T>CCA388624503LIG4c.-89A>G (n.-89A>G)
c.113A>G (p.His38Arg)
c.149A>G (p.His50Arg)
c.125A>G (p.His42Arg)
13g.108211156T>GCA388624505LIG4c.-89A>C (n.-89A>C)
c.113A>C (p.His38Pro)
c.149A>C (p.His50Pro)
c.125A>C (p.His42Pro)
13g.108211157G>ACA388624508LIG4c.-90C>T (n.-90C>T)
c.112C>T (p.His38Tyr)
c.148C>T (p.His50Tyr)
c.124C>T (p.His42Tyr)
 gnomAD v4
13g.108211157G>CCA388624513LIG4c.-90C>G (n.-90C>G)
c.112C>G (p.His38Asp)
c.148C>G (p.His50Asp)
c.124C>G (p.His42Asp)
13g.108211157G>TCA388624515LIG4c.-90C>A (n.-90C>A)
c.112C>A (p.His38Asn)
c.148C>A (p.His50Asn)
c.124C>A (p.His42Asn)
13g.108211158T>ACA388624517LIG4c.-91A>T (n.-91A>T)
c.111A>T (p.Arg37Ser)
c.147A>T (p.Arg49Ser)
c.123A>T (p.Arg41Ser)
13g.108211158T>CCA484976314LIG4c.-91A>G (n.-91A>G)
c.111A>G (p.Arg37=)
c.147A>G (p.Arg49=)
c.123A>G (p.Arg41=)
13g.108211158T>GCA388624518LIG4c.-91A>C (n.-91A>C)
c.111A>C (p.Arg37Ser)
c.147A>C (p.Arg49Ser)
c.123A>C (p.Arg41Ser)
13g.108211159C>ACA388624521LIG4c.-92G>T (n.-92G>T)
c.110G>T (p.Arg37Ile)
c.146G>T (p.Arg49Ile)
c.122G>T (p.Arg41Ile)
13g.108211159C>GCA388624524LIG4c.-92G>C (n.-92G>C)
c.110G>C (p.Arg37Thr)
c.146G>C (p.Arg49Thr)
c.122G>C (p.Arg41Thr)
13g.108211159C>TCA388624527LIG4c.-92G>A (n.-92G>A)
c.110G>A (p.Arg37Lys)
c.146G>A (p.Arg49Lys)
c.122G>A (p.Arg41Lys)
13g.108211160T>ACA388624532LIG4c.-93A>T (n.-93A>T)
c.109A>T (p.Arg37Ter)
c.145A>T (p.Arg49Ter)
c.121A>T (p.Arg41Ter)
 gnomAD v4 COSMIC
13g.108211160T>CCA388624529LIG4c.-93A>G (n.-93A>G)
c.109A>G (p.Arg37Gly)
c.145A>G (p.Arg49Gly)
c.121A>G (p.Arg41Gly)
13g.108211160T>GCA484976316LIG4c.-93A>C (n.-93A>C)
c.109A>C (p.Arg37=)
c.145A>C (p.Arg49=)
c.121A>C (p.Arg41=)
13g.108211161G>ACA484976317LIG4c.-94C>T (n.-94C>T)
c.108C>T (p.Ile36=)
c.144C>T (p.Ile48=)
c.120C>T (p.Ile40=)
13g.108211161G>CCA388624534LIG4c.-94C>G (n.-94C>G)
c.108C>G (p.Ile36Met)
c.144C>G (p.Ile48Met)
c.120C>G (p.Ile40Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.108211161G=CA2117794898LIG4c.-94C= (n.-94C=)
c.108C= (p.Ile36=)
c.144C= (p.Ile48=)
c.120C= (p.Ile40=)
13g.108211161G>TCA7043885LIG4c.-94C>A (n.-94C>A)
c.108C>A (p.Ile36=)
c.144C>A (p.Ile48=)
c.120C>A (p.Ile40=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.108211162A=CA2117794899LIG4c.-95T= (n.-95T=)
c.107T= (p.Ile36=)
c.143T= (p.Ile48=)
c.119T= (p.Ile40=)
13g.108211162A>CCA388624539LIG4c.-95T>G (n.-95T>G)
c.107T>G (p.Ile36Ser)
c.143T>G (p.Ile48Ser)
c.119T>G (p.Ile40Ser)
13g.108211162A>GCA388624542LIG4c.-95T>C (n.-95T>C)
c.107T>C (p.Ile36Thr)
c.143T>C (p.Ile48Thr)
c.119T>C (p.Ile40Thr)
13g.108211162A>TCA388624544LIG4c.-95T>A (n.-95T>A)
c.107T>A (p.Ile36Asn)
c.143T>A (p.Ile48Asn)
c.119T>A (p.Ile40Asn)
13g.108211163T>ACA388624547LIG4c.-96A>T (n.-96A>T)
c.106A>T (p.Ile36Phe)
c.142A>T (p.Ile48Phe)
c.118A>T (p.Ile40Phe)
13g.108211163T>CCA388624549LIG4c.-96A>G (n.-96A>G)
c.106A>G (p.Ile36Val)
c.142A>G (p.Ile48Val)
c.118A>G (p.Ile40Val)
13g.108211163T>GCA388624552LIG4c.-96A>C (n.-96A>C)
c.106A>C (p.Ile36Leu)
c.142A>C (p.Ile48Leu)
c.118A>C (p.Ile40Leu)
 gnomAD v4
13g.108211168dupCA612360461LIG4c.-96dup (n.-96dup)
c.106dup (p.Ile36AsnfsTer16)
c.142dup (p.Ile48AsnfsTer16)
c.118dup (p.Ile40AsnfsTer16)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.108211168delCA2623644597LIG4c.-96del (n.-96del)
c.106del (p.Ile36SerfsTer8)
c.142del (p.Ile48SerfsTer8)
c.118del (p.Ile40SerfsTer8)
 gnomAD v4
13g.108211164T>ACA388624554LIG4c.-97A>T (n.-97A>T)
c.105A>T (p.Lys35Asn)
c.141A>T (p.Lys47Asn)
c.117A>T (p.Lys39Asn)
13g.108211164T>CCA484976319LIG4c.-97A>G (n.-97A>G)
c.105A>G (p.Lys35=)
c.141A>G (p.Lys47=)
c.117A>G (p.Lys39=)
13g.108211164T>GCA388624555LIG4c.-97A>C (n.-97A>C)
c.105A>C (p.Lys35Asn)
c.141A>C (p.Lys47Asn)
c.117A>C (p.Lys39Asn)
13g.108211165T>ACA388624557LIG4c.-98A>T (n.-98A>T)
c.104A>T (p.Lys35Ile)
c.140A>T (p.Lys47Ile)
c.116A>T (p.Lys39Ile)
13g.108211165T>CCA388624559LIG4c.-98A>G (n.-98A>G)
c.104A>G (p.Lys35Arg)
c.140A>G (p.Lys47Arg)
c.116A>G (p.Lys39Arg)

Number of alleles fetched