Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.83353184delCA2767243978XRCC4c.947del (p.Asn316ThrfsTer4)
c.953del (p.Asn318ThrfsTer4)
c.293del (p.Asn98ThrfsTer4)
c.894-17083del (n.894-17083del)
5g.83353184A=CA1559694148XRCC4c.947A= (p.Asn316=)
c.953A= (p.Asn318=)
c.293A= (p.Asn98=)
c.894-17083A= (n.894-17083A=)
5g.83353184A>CCA360357704XRCC4c.947A>C (p.Asn316Thr)
c.953A>C (p.Asn318Thr)
c.293A>C (p.Asn98Thr)
c.894-17083A>C (n.894-17083A>C)
5g.83353184A>GCA360357705XRCC4c.947A>G (p.Asn316Ser)
c.953A>G (p.Asn318Ser)
c.293A>G (p.Asn98Ser)
c.894-17083A>G (n.894-17083A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.83353184A>TCA360357706XRCC4c.947A>T (p.Asn316Ile)
c.953A>T (p.Asn318Ile)
c.293A>T (p.Asn98Ile)
c.894-17083A>T (n.894-17083A>T)
5g.83353185C>ACA360357707XRCC4c.948C>A (p.Asn316Lys)
c.954C>A (p.Asn318Lys)
c.294C>A (p.Asn98Lys)
c.894-17082C>A (n.894-17082C>A)
5g.83353185C=CA1559694150XRCC4c.948C= (p.Asn316=)
c.954C= (p.Asn318=)
c.294C= (p.Asn98=)
c.894-17082C= (n.894-17082C=)
5g.83353185C>GCA360357708XRCC4c.948C>G (p.Asn316Lys)
c.954C>G (p.Asn318Lys)
c.294C>G (p.Asn98Lys)
c.894-17082C>G (n.894-17082C>G)
5g.83353185C>TCA3332316XRCC4c.948C>T (p.Asn316=)
c.954C>T (p.Asn318=)
c.294C>T (p.Asn98=)
c.894-17082C>T (n.894-17082C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353186A>CCA360357709XRCC4c.949A>C (p.Met317Leu)
c.955A>C (p.Met319Leu)
c.295A>C (p.Met99Leu)
c.894-17081A>C (n.894-17081A>C)
5g.83353186A>GCA360357710XRCC4c.949A>G (p.Met317Val)
c.955A>G (p.Met319Val)
c.295A>G (p.Met99Val)
c.894-17081A>G (n.894-17081A>G)
 gnomAD v4
5g.83353186A>TCA360357711XRCC4c.949A>T (p.Met317Leu)
c.955A>T (p.Met319Leu)
c.295A>T (p.Met99Leu)
c.894-17081A>T (n.894-17081A>T)
5g.83353186_83353187delCA2674491738XRCC4c.949_950del (p.Met317ValfsTer15)
c.955_956del (p.Met319ValfsTer15)
c.295_296del (p.Met99ValfsTer15)
c.894-17081_894-17080del (n.894-17081_894-17080del)
 gnomAD v4
5g.83353187T>ACA360357712XRCC4c.950T>A (p.Met317Lys)
c.956T>A (p.Met319Lys)
c.296T>A (p.Met99Lys)
c.894-17080T>A (n.894-17080T>A)
5g.83353187T>CCA360357713XRCC4c.950T>C (p.Met317Thr)
c.956T>C (p.Met319Thr)
c.296T>C (p.Met99Thr)
c.894-17080T>C (n.894-17080T>C)
5g.83353187T>GCA3332317XRCC4c.950T>G (p.Met317Arg)
c.956T>G (p.Met319Arg)
c.296T>G (p.Met99Arg)
c.894-17080T>G (n.894-17080T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353187T=CA1559694154XRCC4c.950T= (p.Met317=)
c.956T= (p.Met319=)
c.296T= (p.Met99=)
c.894-17080T= (n.894-17080T=)
5g.83353188G>ACA360357715XRCC4c.951G>A (p.Met317Ile)
c.957G>A (p.Met319Ile)
c.297G>A (p.Met99Ile)
c.894-17079G>A (n.894-17079G>A)
5g.83353188G>CCA360357716XRCC4c.951G>C (p.Met317Ile)
c.957G>C (p.Met319Ile)
c.297G>C (p.Met99Ile)
c.894-17079G>C (n.894-17079G>C)
5g.83353188G>TCA360357714XRCC4c.951G>T (p.Met317Ile)
c.957G>T (p.Met319Ile)
c.297G>T (p.Met99Ile)
c.894-17079G>T (n.894-17079G>T)
5g.83353189T>ACA360357717XRCC4c.952T>A (p.Ser318Thr)
c.958T>A (p.Ser320Thr)
c.298T>A (p.Ser100Thr)
c.894-17078T>A (n.894-17078T>A)
5g.83353189T>CCA360357719XRCC4c.952T>C (p.Ser318Pro)
c.958T>C (p.Ser320Pro)
c.298T>C (p.Ser100Pro)
c.894-17078T>C (n.894-17078T>C)
5g.83353189T>GCA360357718XRCC4c.952T>G (p.Ser318Ala)
c.958T>G (p.Ser320Ala)
c.298T>G (p.Ser100Ala)
c.894-17078T>G (n.894-17078T>G)
5g.83353190C>ACA360357720XRCC4c.953C>A (p.Ser318Tyr)
c.959C>A (p.Ser320Tyr)
c.299C>A (p.Ser100Tyr)
c.894-17077C>A (n.894-17077C>A)
5g.83353190C>GCA360357722XRCC4c.953C>G (p.Ser318Cys)
c.959C>G (p.Ser320Cys)
c.299C>G (p.Ser100Cys)
c.894-17077C>G (n.894-17077C>G)
 gnomAD v4
5g.83353190C>TCA360357721XRCC4c.953C>T (p.Ser318Phe)
c.959C>T (p.Ser320Phe)
c.299C>T (p.Ser100Phe)
c.894-17077C>T (n.894-17077C>T)
5g.83353191T>ACA445279284XRCC4c.954T>A (p.Ser318=)
c.960T>A (p.Ser320=)
c.300T>A (p.Ser100=)
c.894-17076T>A (n.894-17076T>A)
5g.83353191T>CCA445279282XRCC4c.954T>C (p.Ser318=)
c.960T>C (p.Ser320=)
c.300T>C (p.Ser100=)
c.894-17076T>C (n.894-17076T>C)
 gnomAD v4
5g.83353191T>GCA445279283XRCC4c.954T>G (p.Ser318=)
c.960T>G (p.Ser320=)
c.300T>G (p.Ser100=)
c.894-17076T>G (n.894-17076T>G)
5g.83353192T>ACA360357723XRCC4c.955T>A (p.Leu319Ile)
c.961T>A (p.Leu321Ile)
c.301T>A (p.Leu101Ile)
c.894-17075T>A (n.894-17075T>A)
5g.83353192T>CCA445279285XRCC4c.955T>C (p.Leu319=)
c.961T>C (p.Leu321=)
c.301T>C (p.Leu101=)
c.894-17075T>C (n.894-17075T>C)
5g.83353192T>GCA360357724XRCC4c.955T>G (p.Leu319Val)
c.961T>G (p.Leu321Val)
c.301T>G (p.Leu101Val)
c.894-17075T>G (n.894-17075T>G)
 dbSNP
5g.83353192T=CA1559694159XRCC4c.955T= (p.Leu319=)
c.961T= (p.Leu321=)
c.301T= (p.Leu101=)
c.894-17075T= (n.894-17075T=)
5g.83353193T>ACA360357725XRCC4c.956T>A (p.Leu319Ter)
c.962T>A (p.Leu321Ter)
c.302T>A (p.Leu101Ter)
c.894-17074T>A (n.894-17074T>A)
 ClinVar
5g.83353193T>CCA360357726XRCC4c.956T>C (p.Leu319Ser)
c.962T>C (p.Leu321Ser)
c.302T>C (p.Leu101Ser)
c.894-17074T>C (n.894-17074T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.83353193T>GCA360357727XRCC4c.956T>G (p.Leu319Ter)
c.962T>G (p.Leu321Ter)
c.302T>G (p.Leu101Ter)
c.894-17074T>G (n.894-17074T>G)
5g.83353193T=CA1559694161XRCC4c.956T= (p.Leu319=)
c.962T= (p.Leu321=)
c.302T= (p.Leu101=)
c.894-17074T= (n.894-17074T=)
5g.83353194A=CA1559694163XRCC4c.957A= (p.Leu319=)
c.963A= (p.Leu321=)
c.303A= (p.Leu101=)
c.894-17073A= (n.894-17073A=)
5g.83353194A>CCA360357728XRCC4c.957A>C (p.Leu319Phe)
c.963A>C (p.Leu321Phe)
c.303A>C (p.Leu101Phe)
c.894-17073A>C (n.894-17073A>C)
 dbSNP
5g.83353194A>GCA445279286XRCC4c.957A>G (p.Leu319=)
c.963A>G (p.Leu321=)
c.303A>G (p.Leu101=)
c.894-17073A>G (n.894-17073A>G)
 gnomAD v4
5g.83353194A>TCA360357729XRCC4c.957A>T (p.Leu319Phe)
c.963A>T (p.Leu321Phe)
c.303A>T (p.Leu101Phe)
c.894-17073A>T (n.894-17073A>T)
5g.83353195G>ACA360357730XRCC4c.958G>A (p.Glu320Lys)
c.964G>A (p.Glu322Lys)
c.304G>A (p.Glu102Lys)
c.894-17072G>A (n.894-17072G>A)
5g.83353195G>CCA360357731XRCC4c.958G>C (p.Glu320Gln)
c.964G>C (p.Glu322Gln)
c.304G>C (p.Glu102Gln)
c.894-17072G>C (n.894-17072G>C)
5g.83353195G>TCA360357732XRCC4c.958G>T (p.Glu320Ter)
c.964G>T (p.Glu322Ter)
c.304G>T (p.Glu102Ter)
c.894-17072G>T (n.894-17072G>T)
5g.83353196A=CA1559694167XRCC4c.959A= (p.Glu320=)
c.965A= (p.Glu322=)
c.305A= (p.Glu102=)
c.894-17071A= (n.894-17071A=)
5g.83353196A>CCA360357735XRCC4c.959A>C (p.Glu320Ala)
c.965A>C (p.Glu322Ala)
c.305A>C (p.Glu102Ala)
c.894-17071A>C (n.894-17071A>C)
 ClinVar dbSNP
5g.83353196A>GCA360357734XRCC4c.959A>G (p.Glu320Gly)
c.965A>G (p.Glu322Gly)
c.305A>G (p.Glu102Gly)
c.894-17071A>G (n.894-17071A>G)
5g.83353196A>TCA360357733XRCC4c.959A>T (p.Glu320Val)
c.965A>T (p.Glu322Val)
c.305A>T (p.Glu102Val)
c.894-17071A>T (n.894-17071A>T)
5g.83353197A>CCA360357736XRCC4c.960A>C (p.Glu320Asp)
c.966A>C (p.Glu322Asp)
c.306A>C (p.Glu102Asp)
c.894-17070A>C (n.894-17070A>C)
5g.83353197A>GCA445279287XRCC4c.960A>G (p.Glu320=)
c.966A>G (p.Glu322=)
c.306A>G (p.Glu102=)
c.894-17070A>G (n.894-17070A>G)
5g.83353197A>TCA360357737XRCC4c.960A>T (p.Glu320Asp)
c.966A>T (p.Glu322Asp)
c.306A>T (p.Glu102Asp)
c.894-17070A>T (n.894-17070A>T)
5g.83353198A>CCA360357738XRCC4c.961A>C (p.Thr321Pro)
c.967A>C (p.Thr323Pro)
c.307A>C (p.Thr103Pro)
c.894-17069A>C (n.894-17069A>C)
5g.83353198A>GCA360357739XRCC4c.961A>G (p.Thr321Ala)
c.967A>G (p.Thr323Ala)
c.307A>G (p.Thr103Ala)
c.894-17069A>G (n.894-17069A>G)
5g.83353198A>TCA360357740XRCC4c.961A>T (p.Thr321Ser)
c.967A>T (p.Thr323Ser)
c.307A>T (p.Thr103Ser)
c.894-17069A>T (n.894-17069A>T)
5g.83353198_83353200delinsACTCA1559694171XRCC4c.961_963delinsACT (p.Thr321=)
c.967_969delinsACT (p.Thr323=)
c.307_309delinsACT (p.Thr103=)
c.894-17069_894-17067delinsACT (n.894-17069_894-17067delinsACT)
5g.83353199C>ACA360357741XRCC4c.962C>A (p.Thr321Asn)
c.968C>A (p.Thr323Asn)
c.308C>A (p.Thr103Asn)
c.894-17068C>A (n.894-17068C>A)
5g.83353199C>GCA360357742XRCC4c.962C>G (p.Thr321Ser)
c.968C>G (p.Thr323Ser)
c.308C>G (p.Thr103Ser)
c.894-17068C>G (n.894-17068C>G)
5g.83353199C>TCA360357743XRCC4c.962C>T (p.Thr321Ile)
c.968C>T (p.Thr323Ile)
c.308C>T (p.Thr103Ile)
c.894-17068C>T (n.894-17068C>T)
5g.83353201_83353202delCA560925447XRCC4c.964_965del (p.Leu322GlufsTer10)
c.970_971del (p.Leu324GlufsTer10)
c.310_311del (p.Leu104GlufsTer10)
c.894-17066_894-17065del (n.894-17066_894-17065del)
 dbSNP gnomAD v2 gnomAD v4
5g.83353200T>ACA445279288XRCC4c.963T>A (p.Thr321=)
c.969T>A (p.Thr323=)
c.309T>A (p.Thr103=)
c.894-17067T>A (n.894-17067T>A)
5g.83353200T>CCA445279289XRCC4c.963T>C (p.Thr321=)
c.969T>C (p.Thr323=)
c.309T>C (p.Thr103=)
c.894-17067T>C (n.894-17067T>C)
5g.83353200T>GCA445279290XRCC4c.963T>G (p.Thr321=)
c.969T>G (p.Thr323=)
c.309T>G (p.Thr103=)
c.894-17067T>G (n.894-17067T>G)
5g.83353201C>ACA3332318XRCC4c.964C>A (p.Leu322Met)
c.970C>A (p.Leu324Met)
c.310C>A (p.Leu104Met)
c.894-17066C>A (n.894-17066C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353201C=CA1559694176XRCC4c.964C= (p.Leu322=)
c.970C= (p.Leu324=)
c.310C= (p.Leu104=)
c.894-17066C= (n.894-17066C=)
5g.83353201C>GCA360357744XRCC4c.964C>G (p.Leu322Val)
c.970C>G (p.Leu324Val)
c.310C>G (p.Leu104Val)
c.894-17066C>G (n.894-17066C>G)
5g.83353201C>TCA445279291XRCC4c.964C>T (p.Leu322=)
c.970C>T (p.Leu324=)
c.310C>T (p.Leu104=)
c.894-17066C>T (n.894-17066C>T)
 COSMIC
5g.83353201_83353203delinsCTGCA1559694177XRCC4c.964_966delinsCTG (p.Leu322=)
c.970_972delinsCTG (p.Leu324=)
c.310_312delinsCTG (p.Leu104=)
c.894-17066_894-17064delinsCTG (n.894-17066_894-17064delinsCTG)
5g.83353202T>ACA360357746XRCC4c.965T>A (p.Leu322Gln)
c.971T>A (p.Leu324Gln)
c.311T>A (p.Leu104Gln)
c.894-17065T>A (n.894-17065T>A)
5g.83353202T>CCA360357747XRCC4c.965T>C (p.Leu322Pro)
c.971T>C (p.Leu324Pro)
c.311T>C (p.Leu104Pro)
c.894-17065T>C (n.894-17065T>C)
5g.83353202T>GCA360357745XRCC4c.965T>G (p.Leu322Arg)
c.971T>G (p.Leu324Arg)
c.311T>G (p.Leu104Arg)
c.894-17065T>G (n.894-17065T>G)
5g.83353202dupCA2674491739XRCC4c.965dup (p.Arg323GlufsTer10)
c.971dup (p.Arg325GlufsTer10)
c.311dup (p.Arg105GlufsTer10)
c.894-17065dup (n.894-17065dup)
 gnomAD v4
5g.83353202_83353203delCA3332319XRCC4c.965_966del (p.Leu322GlnfsTer10)
c.971_972del (p.Leu324GlnfsTer10)
c.311_312del (p.Leu104GlnfsTer10)
c.894-17065_894-17064del (n.894-17065_894-17064del)
 dbSNP ExAC gnomAD v2
5g.83353203G>ACA445279292XRCC4c.966G>A (p.Leu322=)
c.972G>A (p.Leu324=)
c.312G>A (p.Leu104=)
c.894-17064G>A (n.894-17064G>A)
 gnomAD v3 gnomAD v4
5g.83353203G>CCA445279293XRCC4c.966G>C (p.Leu322=)
c.972G>C (p.Leu324=)
c.312G>C (p.Leu104=)
c.894-17064G>C (n.894-17064G>C)
5g.83353203G>TCA445279294XRCC4c.966G>T (p.Leu322=)
c.972G>T (p.Leu324=)
c.312G>T (p.Leu104=)
c.894-17064G>T (n.894-17064G>T)
5g.83353204A>CCA445279295XRCC4c.967A>C (p.Arg323=)
c.973A>C (p.Arg325=)
c.313A>C (p.Arg105=)
c.894-17063A>C (n.894-17063A>C)
5g.83353204A>GCA360357748XRCC4c.967A>G (p.Arg323Gly)
c.973A>G (p.Arg325Gly)
c.313A>G (p.Arg105Gly)
c.894-17063A>G (n.894-17063A>G)
5g.83353204A>TCA360357749XRCC4c.967A>T (p.Arg323Ter)
c.973A>T (p.Arg325Ter)
c.313A>T (p.Arg105Ter)
c.894-17063A>T (n.894-17063A>T)
5g.83353205G>ACA360357750XRCC4c.968G>A (p.Arg323Lys)
c.974G>A (p.Arg325Lys)
c.314G>A (p.Arg105Lys)
c.894-17062G>A (n.894-17062G>A)
5g.83353205G>CCA360357751XRCC4c.968G>C (p.Arg323Thr)
c.974G>C (p.Arg325Thr)
c.314G>C (p.Arg105Thr)
c.894-17062G>C (n.894-17062G>C)
5g.83353205G=CA1559694182XRCC4c.968G= (p.Arg323=)
c.974G= (p.Arg325=)
c.314G= (p.Arg105=)
c.894-17062G= (n.894-17062G=)
5g.83353205G>TCA122029008XRCC4c.968G>T (p.Arg323Ile)
c.974G>T (p.Arg325Ile)
c.314G>T (p.Arg105Ile)
c.894-17062G>T (n.894-17062G>T)
 dbSNP gnomAD v4
5g.83353206A>CCA360357752XRCC4c.969A>C (p.Arg323Ser)
c.975A>C (p.Arg325Ser)
c.315A>C (p.Arg105Ser)
c.894-17061A>C (n.894-17061A>C)
5g.83353206A>GCA445279296XRCC4c.969A>G (p.Arg323=)
c.975A>G (p.Arg325=)
c.315A>G (p.Arg105=)
c.894-17061A>G (n.894-17061A>G)
5g.83353206A>TCA360357753XRCC4c.969A>T (p.Arg323Ser)
c.975A>T (p.Arg325Ser)
c.315A>T (p.Arg105Ser)
c.894-17061A>T (n.894-17061A>T)
5g.83353207A=CA1559694185XRCC4c.970A= (p.Asn324=)
c.976A= (p.Asn326=)
c.316A= (p.Asn106=)
c.894-17060A= (n.894-17060A=)
5g.83353207A>CCA3332320XRCC4c.970A>C (p.Asn324His)
c.976A>C (p.Asn326His)
c.316A>C (p.Asn106His)
c.894-17060A>C (n.894-17060A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353207A>GCA360357754XRCC4c.970A>G (p.Asn324Asp)
c.976A>G (p.Asn326Asp)
c.316A>G (p.Asn106Asp)
c.894-17060A>G (n.894-17060A>G)
5g.83353207A>TCA360357755XRCC4c.970A>T (p.Asn324Tyr)
c.976A>T (p.Asn326Tyr)
c.316A>T (p.Asn106Tyr)
c.894-17060A>T (n.894-17060A>T)
5g.83353208A>CCA360357758XRCC4c.971A>C (p.Asn324Thr)
c.977A>C (p.Asn326Thr)
c.317A>C (p.Asn106Thr)
c.894-17059A>C (n.894-17059A>C)
5g.83353208A>GCA360357757XRCC4c.971A>G (p.Asn324Ser)
c.977A>G (p.Asn326Ser)
c.317A>G (p.Asn106Ser)
c.894-17059A>G (n.894-17059A>G)
5g.83353208A>TCA360357756XRCC4c.971A>T (p.Asn324Ile)
c.977A>T (p.Asn326Ile)
c.317A>T (p.Asn106Ile)
c.894-17059A>T (n.894-17059A>T)
5g.83353209C>ACA360357759XRCC4c.972C>A (p.Asn324Lys)
c.978C>A (p.Asn326Lys)
c.318C>A (p.Asn106Lys)
c.894-17058C>A (n.894-17058C>A)
5g.83353209C>GCA360357760XRCC4c.972C>G (p.Asn324Lys)
c.978C>G (p.Asn326Lys)
c.318C>G (p.Asn106Lys)
c.894-17058C>G (n.894-17058C>G)
5g.83353209C>TCA445279297XRCC4c.972C>T (p.Asn324=)
c.978C>T (p.Asn326=)
c.318C>T (p.Asn106=)
c.894-17058C>T (n.894-17058C>T)
5g.83353210A=CA1559694188XRCC4c.973A= (p.Ser325=)
c.979A= (p.Ser327=)
c.319A= (p.Ser107=)
c.894-17057A= (n.894-17057A=)
5g.83353210A>CCA360357761XRCC4c.973A>C (p.Ser325Arg)
c.979A>C (p.Ser327Arg)
c.319A>C (p.Ser107Arg)
c.894-17057A>C (n.894-17057A>C)
5g.83353210A>GCA3332321XRCC4c.973A>G (p.Ser325Gly)
c.979A>G (p.Ser327Gly)
c.319A>G (p.Ser107Gly)
c.894-17057A>G (n.894-17057A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353210A>TCA360357762XRCC4c.973A>T (p.Ser325Cys)
c.979A>T (p.Ser327Cys)
c.319A>T (p.Ser107Cys)
c.894-17057A>T (n.894-17057A>T)
5g.83353211G>ACA360357763XRCC4c.974G>A (p.Ser325Asn)
c.980G>A (p.Ser327Asn)
c.320G>A (p.Ser107Asn)
c.894-17056G>A (n.894-17056G>A)
5g.83353211G>CCA360357764XRCC4c.974G>C (p.Ser325Thr)
c.980G>C (p.Ser327Thr)
c.320G>C (p.Ser107Thr)
c.894-17056G>C (n.894-17056G>C)
5g.83353211G>TCA360357765XRCC4c.974G>T (p.Ser325Ile)
c.980G>T (p.Ser327Ile)
c.320G>T (p.Ser107Ile)
c.894-17056G>T (n.894-17056G>T)
5g.83353212C>ACA360357766XRCC4c.975C>A (p.Ser325Arg)
c.981C>A (p.Ser327Arg)
c.321C>A (p.Ser107Arg)
c.894-17055C>A (n.894-17055C>A)
5g.83353212C>GCA360357767XRCC4c.975C>G (p.Ser325Arg)
c.981C>G (p.Ser327Arg)
c.321C>G (p.Ser107Arg)
c.894-17055C>G (n.894-17055C>G)
5g.83353212C>TCA445279298XRCC4c.975C>T (p.Ser325=)
c.981C>T (p.Ser327=)
c.321C>T (p.Ser107=)
c.894-17055C>T (n.894-17055C>T)
5g.83353213A>CCA360357768XRCC4c.976A>C (p.Ser326Arg)
c.982A>C (p.Ser328Arg)
c.322A>C (p.Ser108Arg)
c.894-17054A>C (n.894-17054A>C)
5g.83353213A>GCA360357769XRCC4c.976A>G (p.Ser326Gly)
c.982A>G (p.Ser328Gly)
c.322A>G (p.Ser108Gly)
c.894-17054A>G (n.894-17054A>G)
5g.83353213A>TCA360357770XRCC4c.976A>T (p.Ser326Cys)
c.982A>T (p.Ser328Cys)
c.322A>T (p.Ser108Cys)
c.894-17054A>T (n.894-17054A>T)
5g.83353214G>ACA360357772XRCC4c.977G>A (p.Ser326Asn)
c.983G>A (p.Ser328Asn)
c.323G>A (p.Ser108Asn)
c.894-17053G>A (n.894-17053G>A)
5g.83353214G>CCA360357773XRCC4c.977G>C (p.Ser326Thr)
c.983G>C (p.Ser328Thr)
c.323G>C (p.Ser108Thr)
c.894-17053G>C (n.894-17053G>C)
5g.83353214G>TCA360357771XRCC4c.977G>T (p.Ser326Ile)
c.983G>T (p.Ser328Ile)
c.323G>T (p.Ser108Ile)
c.894-17053G>T (n.894-17053G>T)
5g.83353215C>ACA360357775XRCC4c.978C>A (p.Ser326Arg)
c.984C>A (p.Ser328Arg)
c.324C>A (p.Ser108Arg)
c.894-17052C>A (n.894-17052C>A)
5g.83353215C>GCA360357774XRCC4c.978C>G (p.Ser326Arg)
c.984C>G (p.Ser328Arg)
c.324C>G (p.Ser108Arg)
c.894-17052C>G (n.894-17052C>G)
5g.83353215C>TCA445279299XRCC4c.978C>T (p.Ser326=)
c.984C>T (p.Ser328=)
c.324C>T (p.Ser108=)
c.894-17052C>T (n.894-17052C>T)
5g.83353216C>ACA360357776XRCC4c.979C>A (p.Pro327Thr)
c.985C>A (p.Pro329Thr)
c.325C>A (p.Pro109Thr)
c.894-17051C>A (n.894-17051C>A)
 dbSNP gnomAD v3 gnomAD v4
5g.83353216C=CA1559694191XRCC4c.979C= (p.Pro327=)
c.985C= (p.Pro329=)
c.325C= (p.Pro109=)
c.894-17051C= (n.894-17051C=)
5g.83353216C>GCA360357777XRCC4c.979C>G (p.Pro327Ala)
c.985C>G (p.Pro329Ala)
c.325C>G (p.Pro109Ala)
c.894-17051C>G (n.894-17051C>G)
5g.83353216C>TCA360357778XRCC4c.979C>T (p.Pro327Ser)
c.985C>T (p.Pro329Ser)
c.325C>T (p.Pro109Ser)
c.894-17051C>T (n.894-17051C>T)
5g.83353217C>ACA360357779XRCC4c.980C>A (p.Pro327Gln)
c.986C>A (p.Pro329Gln)
c.326C>A (p.Pro109Gln)
c.894-17050C>A (n.894-17050C>A)
5g.83353217C>GCA360357780XRCC4c.980C>G (p.Pro327Arg)
c.986C>G (p.Pro329Arg)
c.326C>G (p.Pro109Arg)
c.894-17050C>G (n.894-17050C>G)
5g.83353217C>TCA360357781XRCC4c.980C>T (p.Pro327Leu)
c.986C>T (p.Pro329Leu)
c.326C>T (p.Pro109Leu)
c.894-17050C>T (n.894-17050C>T)
5g.83353218A=CA1559694193XRCC4c.981A= (p.Pro327=)
c.987A= (p.Pro329=)
c.327A= (p.Pro109=)
c.894-17049A= (n.894-17049A=)
5g.83353218A>CCA445279300XRCC4c.981A>C (p.Pro327=)
c.987A>C (p.Pro329=)
c.327A>C (p.Pro109=)
c.894-17049A>C (n.894-17049A>C)
5g.83353218A>GCA445279301XRCC4c.981A>G (p.Pro327=)
c.987A>G (p.Pro329=)
c.327A>G (p.Pro109=)
c.894-17049A>G (n.894-17049A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.83353218A>TCA445279302XRCC4c.981A>T (p.Pro327=)
c.987A>T (p.Pro329=)
c.327A>T (p.Pro109=)
c.894-17049A>T (n.894-17049A>T)
5g.83353219G>ACA360357782XRCC4c.982G>A (p.Glu328Lys)
c.988G>A (p.Glu330Lys)
c.328G>A (p.Glu110Lys)
c.894-17048G>A (n.894-17048G>A)
5g.83353219G>CCA360357783XRCC4c.982G>C (p.Glu328Gln)
c.988G>C (p.Glu330Gln)
c.328G>C (p.Glu110Gln)
c.894-17048G>C (n.894-17048G>C)
5g.83353219G=CA1559694197XRCC4c.982G= (p.Glu328=)
c.988G= (p.Glu330=)
c.328G= (p.Glu110=)
c.894-17048G= (n.894-17048G=)
5g.83353219G>TCA360357784XRCC4c.982G>T (p.Glu328Ter)
c.988G>T (p.Glu330Ter)
c.328G>T (p.Glu110Ter)
c.894-17048G>T (n.894-17048G>T)
5g.83353220A>CCA360357785XRCC4c.983A>C (p.Glu328Ala)
c.989A>C (p.Glu330Ala)
c.329A>C (p.Glu110Ala)
c.894-17047A>C (n.894-17047A>C)
5g.83353220A>GCA360357786XRCC4c.983A>G (p.Glu328Gly)
c.989A>G (p.Glu330Gly)
c.329A>G (p.Glu110Gly)
c.894-17047A>G (n.894-17047A>G)
5g.83353220A>TCA360357787XRCC4c.983A>T (p.Glu328Val)
c.989A>T (p.Glu330Val)
c.329A>T (p.Glu110Val)
c.894-17047A>T (n.894-17047A>T)
5g.83353221dupCA560925452XRCC4c.984dup (p.Asp329ArgfsTer4)
c.990dup (p.Asp331ArgfsTer4)
c.330dup (p.Asp111ArgfsTer4)
c.894-17046dup (n.894-17046dup)
 dbSNP gnomAD v2 gnomAD v4
5g.83353221A=CA1559694202XRCC4c.984A= (p.Glu328=)
c.990A= (p.Glu330=)
c.330A= (p.Glu110=)
c.894-17046A= (n.894-17046A=)
5g.83353221A>CCA360357789XRCC4c.984A>C (p.Glu328Asp)
c.990A>C (p.Glu330Asp)
c.330A>C (p.Glu110Asp)
c.894-17046A>C (n.894-17046A>C)
5g.83353221A>GCA445279303XRCC4c.984A>G (p.Glu328=)
c.990A>G (p.Glu330=)
c.330A>G (p.Glu110=)
c.894-17046A>G (n.894-17046A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.83353221A>TCA360357788XRCC4c.984A>T (p.Glu328Asp)
c.990A>T (p.Glu330Asp)
c.330A>T (p.Glu110Asp)
c.894-17046A>T (n.894-17046A>T)
5g.83353222G>ACA360357790XRCC4c.985G>A (p.Asp329Asn)
c.991G>A (p.Asp331Asn)
c.331G>A (p.Asp111Asn)
c.894-17045G>A (n.894-17045G>A)
5g.83353222G>CCA360357791XRCC4c.985G>C (p.Asp329His)
c.991G>C (p.Asp331His)
c.331G>C (p.Asp111His)
c.894-17045G>C (n.894-17045G>C)
 COSMIC
5g.83353222G>TCA360357792XRCC4c.985G>T (p.Asp329Tyr)
c.991G>T (p.Asp331Tyr)
c.331G>T (p.Asp111Tyr)
c.894-17045G>T (n.894-17045G>T)
 gnomAD v4
5g.83353223A=CA1559694204XRCC4c.986A= (p.Asp329=)
c.992A= (p.Asp331=)
c.332A= (p.Asp111=)
c.894-17044A= (n.894-17044A=)
5g.83353223A>CCA360357793XRCC4c.986A>C (p.Asp329Ala)
c.992A>C (p.Asp331Ala)
c.332A>C (p.Asp111Ala)
c.894-17044A>C (n.894-17044A>C)
5g.83353223A>GCA360357794XRCC4c.986A>G (p.Asp329Gly)
c.992A>G (p.Asp331Gly)
c.332A>G (p.Asp111Gly)
c.894-17044A>G (n.894-17044A>G)
 gnomAD v4
5g.83353223A>TCA122029009XRCC4c.986A>T (p.Asp329Val)
c.992A>T (p.Asp331Val)
c.332A>T (p.Asp111Val)
c.894-17044A>T (n.894-17044A>T)
 dbSNP
5g.83353224C>ACA360357795XRCC4c.987C>A (p.Asp329Glu)
c.993C>A (p.Asp331Glu)
c.333C>A (p.Asp111Glu)
c.894-17043C>A (n.894-17043C>A)
 dbSNP
5g.83353224C=CA1559694209XRCC4c.987C= (p.Asp329=)
c.993C= (p.Asp331=)
c.333C= (p.Asp111=)
c.894-17043C= (n.894-17043C=)
5g.83353224C>GCA360357796XRCC4c.987C>G (p.Asp329Glu)
c.993C>G (p.Asp331Glu)
c.333C>G (p.Asp111Glu)
c.894-17043C>G (n.894-17043C>G)
5g.83353224C>TCA445279304XRCC4c.987C>T (p.Asp329=)
c.993C>T (p.Asp331=)
c.333C>T (p.Asp111=)
c.894-17043C>T (n.894-17043C>T)
 gnomAD v4 COSMIC COSMIC
5g.83353225C>ACA360357797XRCC4c.988C>A (p.Leu330Ile)
c.994C>A (p.Leu332Ile)
c.334C>A (p.Leu112Ile)
c.894-17042C>A (n.894-17042C>A)
5g.83353225C>GCA360357798XRCC4c.988C>G (p.Leu330Val)
c.994C>G (p.Leu332Val)
c.334C>G (p.Leu112Val)
c.894-17042C>G (n.894-17042C>G)
5g.83353225C>TCA360357799XRCC4c.988C>T (p.Leu330Phe)
c.994C>T (p.Leu332Phe)
c.334C>T (p.Leu112Phe)
c.894-17042C>T (n.894-17042C>T)
5g.83353226T>ACA360357800XRCC4c.989T>A (p.Leu330His)
c.995T>A (p.Leu332His)
c.335T>A (p.Leu112His)
c.894-17041T>A (n.894-17041T>A)
5g.83353226T>CCA360357801XRCC4c.989T>C (p.Leu330Pro)
c.995T>C (p.Leu332Pro)
c.335T>C (p.Leu112Pro)
c.894-17041T>C (n.894-17041T>C)
5g.83353226T>GCA360357802XRCC4c.989T>G (p.Leu330Arg)
c.995T>G (p.Leu332Arg)
c.335T>G (p.Leu112Arg)
c.894-17041T>G (n.894-17041T>G)
5g.83353227C>ACA445279305XRCC4c.990C>A (p.Leu330=)
c.996C>A (p.Leu332=)
c.336C>A (p.Leu112=)
c.894-17040C>A (n.894-17040C>A)
 COSMIC COSMIC
5g.83353227C=CA1559694214XRCC4c.990C= (p.Leu330=)
c.996C= (p.Leu332=)
c.336C= (p.Leu112=)
c.894-17040C= (n.894-17040C=)
5g.83353227C>GCA445279306XRCC4c.990C>G (p.Leu330=)
c.996C>G (p.Leu332=)
c.336C>G (p.Leu112=)
c.894-17040C>G (n.894-17040C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.83353227C>TCA3332322XRCC4c.990C>T (p.Leu330=)
c.996C>T (p.Leu332=)
c.336C>T (p.Leu112=)
c.894-17040C>T (n.894-17040C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353228T>ACA360357805XRCC4c.991T>A (p.Phe331Ile)
c.997T>A (p.Phe333Ile)
c.337T>A (p.Phe113Ile)
c.894-17039T>A (n.894-17039T>A)
5g.83353228T>CCA360357803XRCC4c.991T>C (p.Phe331Leu)
c.997T>C (p.Phe333Leu)
c.337T>C (p.Phe113Leu)
c.894-17039T>C (n.894-17039T>C)
5g.83353228T>GCA360357804XRCC4c.991T>G (p.Phe331Val)
c.997T>G (p.Phe333Val)
c.337T>G (p.Phe113Val)
c.894-17039T>G (n.894-17039T>G)
5g.83353229_83353230delCA2578353676XRCC4c.992_993del (p.Phe331Ter)
c.998_999del (p.Phe333Ter)
c.338_339del (p.Phe113Ter)
c.894-17038_894-17037del (n.894-17038_894-17037del)
 gnomAD v4
5g.83353229T>ACA360357806XRCC4c.992T>A (p.Phe331Tyr)
c.998T>A (p.Phe333Tyr)
c.338T>A (p.Phe113Tyr)
c.894-17038T>A (n.894-17038T>A)
5g.83353229T>CCA360357807XRCC4c.992T>C (p.Phe331Ser)
c.998T>C (p.Phe333Ser)
c.338T>C (p.Phe113Ser)
c.894-17038T>C (n.894-17038T>C)
5g.83353229T>GCA360357808XRCC4c.992T>G (p.Phe331Cys)
c.998T>G (p.Phe333Cys)
c.338T>G (p.Phe113Cys)
c.894-17038T>G (n.894-17038T>G)
5g.83353230T>ACA360357809XRCC4c.993T>A (p.Phe331Leu)
c.999T>A (p.Phe333Leu)
c.339T>A (p.Phe113Leu)
c.894-17037T>A (n.894-17037T>A)
5g.83353230T>CCA445279307XRCC4c.993T>C (p.Phe331=)
c.999T>C (p.Phe333=)
c.339T>C (p.Phe113=)
c.894-17037T>C (n.894-17037T>C)
5g.83353230T>GCA360357810XRCC4c.993T>G (p.Phe331Leu)
c.999T>G (p.Phe333Leu)
c.339T>G (p.Phe113Leu)
c.894-17037T>G (n.894-17037T>G)
 COSMIC COSMIC
5g.83353231G>ACA360357811XRCC4c.994G>A (p.Asp332Asn)
c.1000G>A (p.Asp334Asn)
c.340G>A (p.Asp114Asn)
c.894-17036G>A (n.894-17036G>A)
5g.83353231G>CCA3332323XRCC4c.994G>C (p.Asp332His)
c.1000G>C (p.Asp334His)
c.340G>C (p.Asp114His)
c.894-17036G>C (n.894-17036G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353231G=CA1559694219XRCC4c.994G= (p.Asp332=)
c.1000G= (p.Asp334=)
c.340G= (p.Asp114=)
c.894-17036G= (n.894-17036G=)
5g.83353231G>TCA360357812XRCC4c.994G>T (p.Asp332Tyr)
c.1000G>T (p.Asp334Tyr)
c.340G>T (p.Asp114Tyr)
c.894-17036G>T (n.894-17036G>T)
 COSMIC COSMIC
5g.83353232A=CA1559694223XRCC4c.995A= (p.Asp332=)
c.1001A= (p.Asp334=)
c.341A= (p.Asp114=)
c.894-17035A= (n.894-17035A=)
5g.83353232A>CCA3332324XRCC4c.995A>C (p.Asp332Ala)
c.1001A>C (p.Asp334Ala)
c.341A>C (p.Asp114Ala)
c.894-17035A>C (n.894-17035A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353232A>GCA360357813XRCC4c.995A>G (p.Asp332Gly)
c.1001A>G (p.Asp334Gly)
c.341A>G (p.Asp114Gly)
c.894-17035A>G (n.894-17035A>G)
 dbSNP
5g.83353232A>TCA360357814XRCC4c.995A>T (p.Asp332Val)
c.1001A>T (p.Asp334Val)
c.341A>T (p.Asp114Val)
c.894-17035A>T (n.894-17035A>T)
5g.83353233T>ACA360357816XRCC4c.996T>A (p.Asp332Glu)
c.1002T>A (p.Asp334Glu)
c.342T>A (p.Asp114Glu)
c.894-17034T>A (n.894-17034T>A)
5g.83353233T>CCA445279308XRCC4c.996T>C (p.Asp332=)
c.1002T>C (p.Asp334=)
c.342T>C (p.Asp114=)
c.894-17034T>C (n.894-17034T>C)
 gnomAD v4
5g.83353233T>GCA360357815XRCC4c.996T>G (p.Asp332Glu)
c.1002T>G (p.Asp334Glu)
c.342T>G (p.Asp114Glu)
c.894-17034T>G (n.894-17034T>G)
5g.83353234G>ACA3332325XRCC4c.997G>A (p.Glu333Lys)
c.1003G>A (p.Glu335Lys)
c.343G>A (p.Glu115Lys)
c.894-17033G>A (n.894-17033G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353234G>CCA360357817XRCC4c.997G>C (p.Glu333Gln)
c.1003G>C (p.Glu335Gln)
c.343G>C (p.Glu115Gln)
c.894-17033G>C (n.894-17033G>C)
5g.83353234G=CA1559694230XRCC4c.997G= (p.Glu333=)
c.1003G= (p.Glu335=)
c.343G= (p.Glu115=)
c.894-17033G= (n.894-17033G=)
5g.83353234G>TCA360357818XRCC4c.997G>T (p.Glu333Ter)
c.1003G>T (p.Glu335Ter)
c.343G>T (p.Glu115Ter)
c.894-17033G>T (n.894-17033G>T)
5g.83353235A>CCA360357819XRCC4c.998A>C (p.Glu333Ala)
c.1004A>C (p.Glu335Ala)
c.344A>C (p.Glu115Ala)
c.894-17032A>C (n.894-17032A>C)
5g.83353235A>GCA360357820XRCC4c.998A>G (p.Glu333Gly)
c.1004A>G (p.Glu335Gly)
c.344A>G (p.Glu115Gly)
c.894-17032A>G (n.894-17032A>G)
5g.83353235A>TCA360357821XRCC4c.998A>T (p.Glu333Val)
c.1004A>T (p.Glu335Val)
c.344A>T (p.Glu115Val)
c.894-17032A>T (n.894-17032A>T)
5g.83353236G>ACA445279309XRCC4c.999G>A (p.Glu333=)
c.1005G>A (p.Glu335=)
c.345G>A (p.Glu115=)
c.894-17031G>A (n.894-17031G>A)
 gnomAD v4
5g.83353236G>CCA360357822XRCC4c.999G>C (p.Glu333Asp)
c.1005G>C (p.Glu335Asp)
c.345G>C (p.Glu115Asp)
c.894-17031G>C (n.894-17031G>C)
5g.83353236G>TCA360357823XRCC4c.999G>T (p.Glu333Asp)
c.1005G>T (p.Glu335Asp)
c.345G>T (p.Glu115Asp)
c.894-17031G>T (n.894-17031G>T)
5g.83353237A=CA1559694232XRCC4c.1000A= (p.Ile334=)
c.1006A= (p.Ile336=)
c.346A= (p.Ile116=)
c.894-17030A= (n.894-17030A=)
5g.83353237A>CCA3332326XRCC4c.1000A>C (p.Ile334Leu)
c.1006A>C (p.Ile336Leu)
c.346A>C (p.Ile116Leu)
c.894-17030A>C (n.894-17030A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353237A>GCA360357824XRCC4c.1000A>G (p.Ile334Val)
c.1006A>G (p.Ile336Val)
c.346A>G (p.Ile116Val)
c.894-17030A>G (n.894-17030A>G)
 gnomAD v4
5g.83353237A>TCA360357825XRCC4c.1000A>T (p.Ile334Phe)
c.1006A>T (p.Ile336Phe)
c.346A>T (p.Ile116Phe)
c.894-17030A>T (n.894-17030A>T)
5g.83353237_83353238delinsATCA1559694233XRCC4c.1000_1001delinsAT (p.Ile334=)
c.1006_1007delinsAT (p.Ile336=)
c.346_347delinsAT (p.Ile116=)
c.894-17030_894-17029delinsAT (n.894-17030_894-17029delinsAT)
5g.83353238T>ACA360357826XRCC4c.1001T>A (p.Ile334Asn)
c.1007T>A (p.Ile336Asn)
c.347T>A (p.Ile116Asn)
c.894-17029T>A (n.894-17029T>A)
5g.83353238T>CCA3332327XRCC4c.1001T>C (p.Ile334Thr)
c.1007T>C (p.Ile336Thr)
c.347T>C (p.Ile116Thr)
c.894-17029T>C (n.894-17029T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353238T>GCA360357827XRCC4c.1001T>G (p.Ile334Ser)
c.1007T>G (p.Ile336Ser)
c.347T>G (p.Ile116Ser)
c.894-17029T>G (n.894-17029T>G)
5g.83353238T=CA1559694236XRCC4c.1001T= (p.Ile334=)
c.1007T= (p.Ile336=)
c.347T= (p.Ile116=)
c.894-17029T= (n.894-17029T=)
5g.83353240delCA560925456XRCC4c.1003del (p.Ter335AsnextTer11)
c.1009del (p.Ter337AsnextTer11)
c.349del (p.Ter117AsnextTer11)
c.894-17027del (n.894-17027del)
 dbSNP gnomAD v2 gnomAD v4
5g.83353239T>ACA445279310XRCC4c.1002T>A (p.Ile334=)
c.1008T>A (p.Ile336=)
c.348T>A (p.Ile116=)
c.894-17028T>A (n.894-17028T>A)
5g.83353239T>CCA445279311XRCC4c.1002T>C (p.Ile334=)
c.1008T>C (p.Ile336=)
c.348T>C (p.Ile116=)
c.894-17028T>C (n.894-17028T>C)
5g.83353239T>GCA360357828XRCC4c.1002T>G (p.Ile334Met)
c.1008T>G (p.Ile336Met)
c.348T>G (p.Ile116Met)
c.894-17028T>G (n.894-17028T>G)
5g.83353240T>ACA360357830XRCC4c.1003T>A (p.Ter335Lys)
c.1009T>A (p.Ter337Lys)
c.349T>A (p.Ter117Lys)
c.894-17027T>A (n.894-17027T>A)
5g.83353240T>CCA360357829XRCC4c.1003T>C (p.Ter335Gln)
c.1009T>C (p.Ter337Gln)
c.349T>C (p.Ter117Gln)
c.894-17027T>C (n.894-17027T>C)
5g.83353240T>GCA360357831XRCC4c.1003T>G (p.Ter335Glu)
c.1009T>G (p.Ter337Glu)
c.349T>G (p.Ter117Glu)
c.894-17027T>G (n.894-17027T>G)
5g.83353241A>CCA360357832XRCC4c.1004A>C (p.Ter335Ser)
c.1010A>C (p.Ter337Ser)
c.350A>C (p.Ter117Ser)
c.894-17026A>C (n.894-17026A>C)
5g.83353241A>GCA445279312XRCC4c.1004A>G (p.Ter335=)
c.1010A>G (p.Ter337=)
c.350A>G (p.Ter117=)
c.894-17026A>G (n.894-17026A>G)
5g.83353241A>TCA360357833XRCC4c.1004A>T (p.Ter335Leu)
c.1010A>T (p.Ter337Leu)
c.350A>T (p.Ter117Leu)
c.894-17026A>T (n.894-17026A>T)
 gnomAD v4
5g.83353241_83353243delinsAACCA1559694239XRCC4c.1004_*1delinsAAC (n.[c.1004_*1delinsAAC;Ter335=])
c.1010_*1delinsAAC (n.[c.1010_*1delinsAAC;Ter337=])
c.350_*1delinsAAC (n.[c.350_*1delinsAAC;Ter117=])
c.894-17026_894-17024delinsAAC (n.894-17026_894-17024delinsAAC)
5g.83353242A=CA1559694241XRCC4c.1005A= (p.Ter335=)
c.1011A= (p.Ter337=)
c.351A= (p.Ter117=)
c.894-17025A= (n.894-17025A=)
5g.83353242A>CCA360357834XRCC4c.1005A>C (p.Ter335Tyr)
c.1011A>C (p.Ter337Tyr)
c.351A>C (p.Ter117Tyr)
c.894-17025A>C (n.894-17025A>C)
5g.83353242A>GCA445279313XRCC4c.1005A>G (p.Ter335=)
c.1011A>G (p.Ter337=)
c.351A>G (p.Ter117=)
c.894-17025A>G (n.894-17025A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.83353242A>TCA360357835XRCC4c.1005A>T (p.Ter335Tyr)
c.1011A>T (p.Ter337Tyr)
c.351A>T (p.Ter117Tyr)
c.894-17025A>T (n.894-17025A>T)
5g.83353243_83353244delCA3332328XRCC4c.*1_*2del (n.*1_*2del)
c.894-17024_894-17023del (n.894-17024_894-17023del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353243C>ACA560925458XRCC4c.*1C>A (n.*1C>A)
c.894-17024C>A (n.894-17024C>A)
 dbSNP gnomAD v2 gnomAD v4
5g.83353243C=CA1559694244XRCC4c.*1C= (n.*1C=)
c.894-17024C= (n.894-17024C=)
5g.83353243C>TCA3332329XRCC4c.*1C>T (n.*1C>T)
c.894-17024C>T (n.894-17024C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353244A>GCA2674491740XRCC4c.*2A>G (n.*2A>G)
c.894-17023A>G (n.894-17023A>G)
 gnomAD v4
5g.83353245G>ACA2674491741XRCC4c.*3G>A (n.*3G>A)
c.894-17022G>A (n.894-17022G>A)
 gnomAD v4
5g.83353246T>ACA1559694249XRCC4c.*4T>A (n.*4T>A)
c.894-17021T>A (n.894-17021T>A)
 dbSNP
5g.83353246T>CCA3332330XRCC4c.*4T>C (n.*4T>C)
c.894-17021T>C (n.894-17021T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353246T>GCA2674491742XRCC4c.*4T>G (n.*4T>G)
c.894-17021T>G (n.894-17021T>G)
 gnomAD v4
5g.83353246T=CA1559694248XRCC4c.*4T= (n.*4T=)
c.894-17021T= (n.894-17021T=)
5g.83353247C>ACA2674491743XRCC4c.*5C>A (n.*5C>A)
c.894-17020C>A (n.894-17020C>A)
 gnomAD v4
5g.83353248T>CCA2674491744XRCC4c.*6T>C (n.*6T>C)
c.894-17019T>C (n.894-17019T>C)
 gnomAD v4
5g.83353249_83353252delinsCAAACA1559694251XRCC4c.*7_*10delinsCAAA (n.*7_*10delinsCAAA)
c.894-17018_894-17015delinsCAAA (n.894-17018_894-17015delinsCAAA)
5g.83353255delCA560925461XRCC4c.*13del (n.*13del)
c.894-17012del (n.894-17012del)
 dbSNP gnomAD v2 gnomAD v4
5g.83353253_83353255delCA1559694253XRCC4c.*11_*13del (n.*11_*13del)
c.894-17014_894-17012del (n.894-17014_894-17012del)
 dbSNP
5g.83353251A=CA1559694254XRCC4c.*9A= (n.*9A=)
c.894-17016A= (n.894-17016A=)
5g.83353251A>GCA1559694255XRCC4c.*9A>G (n.*9A>G)
c.894-17016A>G (n.894-17016A>G)
 dbSNP gnomAD v4
5g.83353253A=CA1559694258XRCC4c.*11A= (n.*11A=)
c.894-17014A= (n.894-17014A=)
5g.83353253A>GCA3332331XRCC4c.*11A>G (n.*11A>G)
c.894-17014A>G (n.894-17014A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353254A>TCA2674491745XRCC4c.*12A>T (n.*12A>T)
c.894-17013A>T (n.894-17013A>T)
 gnomAD v4
5g.83353255A=CA1559694261XRCC4c.*13A= (n.*13A=)
c.894-17012A= (n.894-17012A=)
5g.83353255A>CCA2674491746XRCC4c.*13A>C (n.*13A>C)
c.894-17012A>C (n.894-17012A>C)
 gnomAD v4
5g.83353255A>TCA3332332XRCC4c.*13A>T (n.*13A>T)
c.894-17012A>T (n.894-17012A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353256T>CCA2674491747XRCC4c.*14T>C (n.*14T>C)
c.894-17011T>C (n.894-17011T>C)
 gnomAD v4
5g.83353257A=CA1559694263XRCC4c.*15A= (n.*15A=)
c.894-17010A= (n.894-17010A=)
5g.83353257A>GCA3332333XRCC4c.*15A>G (n.*15A>G)
c.894-17010A>G (n.894-17010A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353257A>TCA3332334XRCC4c.*15A>T (n.*15A>T)
c.894-17010A>T (n.894-17010A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353258C=CA1559694267XRCC4c.*16C= (n.*16C=)
c.894-17009C= (n.894-17009C=)
5g.83353258C>GCA122029010XRCC4c.*16C>G (n.*16C>G)
c.894-17009C>G (n.894-17009C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.83353258C>TCA1559694266XRCC4c.*16C>T (n.*16C>T)
c.894-17009C>T (n.894-17009C>T)
 dbSNP
5g.83353259T>CCA1078180559XRCC4c.*17T>C (n.*17T>C)
c.894-17008T>C (n.894-17008T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.83353259T=CA1559694268XRCC4c.*17T= (n.*17T=)
c.894-17008T= (n.894-17008T=)
5g.83353260T>CCA2767243979XRCC4c.*18T>C (n.*18T>C)
c.894-17007T>C (n.894-17007T>C)
5g.83353261T>CCA560925462XRCC4c.*19T>C (n.*19T>C)
c.894-17006T>C (n.894-17006T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.83353261T>GCA3332335XRCC4c.*19T>G (n.*19T>G)
c.894-17006T>G (n.894-17006T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353261T=CA1559694271XRCC4c.*19T= (n.*19T=)
c.894-17006T= (n.894-17006T=)
5g.83353262G>ACA560925466XRCC4c.*20G>A (n.*20G>A)
c.894-17005G>A (n.894-17005G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.83353262G=CA1559694275XRCC4c.*20G= (n.*20G=)
c.894-17005G= (n.894-17005G=)
5g.83353262G>TCA1559694276XRCC4c.*20G>T (n.*20G>T)
c.894-17005G>T (n.894-17005G>T)
 dbSNP
5g.83353263A=CA1559694278XRCC4c.*21A= (n.*21A=)
c.894-17004A= (n.894-17004A=)
5g.83353263A>CCA1559694277XRCC4c.*21A>C (n.*21A>C)
c.894-17004A>C (n.894-17004A>C)
 dbSNP
5g.83353265G>ACA560925468XRCC4c.*23G>A (n.*23G>A)
c.894-17002G>A (n.894-17002G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.83353265G=CA1559694280XRCC4c.*23G= (n.*23G=)
c.894-17002G= (n.894-17002G=)
5g.83353265G>TCA2674491748XRCC4c.*23G>T (n.*23G>T)
c.894-17002G>T (n.894-17002G>T)
 gnomAD v4
5g.83353267T>CCA2674491749XRCC4c.*25T>C (n.*25T>C)
c.894-17000T>C (n.894-17000T>C)
 gnomAD v4
5g.83353268C>ACA2674491750XRCC4c.*26C>A (n.*26C>A)
c.894-16999C>A (n.894-16999C>A)
 gnomAD v4
5g.83353268C=CA1559694282XRCC4c.*26C= (n.*26C=)
c.894-16999C= (n.894-16999C=)
5g.83353268C>GCA560925469XRCC4c.*26C>G (n.*26C>G)
c.894-16999C>G (n.894-16999C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.83353272A=CA1559694285XRCC4c.*30A= (n.*30A=)
c.894-16995A= (n.894-16995A=)
5g.83353272A>GCA3332336XRCC4c.*30A>G (n.*30A>G)
c.894-16995A>G (n.894-16995A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353273G>TCA2578353677XRCC4c.*31G>T (n.*31G>T)
c.894-16994G>T (n.894-16994G>T)
5g.83353274A>TCA2674491751XRCC4c.*32A>T (n.*32A>T)
c.894-16993A>T (n.894-16993A>T)
 gnomAD v4
5g.83353275C=CA1559694286XRCC4c.*33C= (n.*33C=)
c.894-16992C= (n.894-16992C=)
5g.83353275C>TCA1559694288XRCC4c.*33C>T (n.*33C>T)
c.894-16992C>T (n.894-16992C>T)
 dbSNP gnomAD v4
5g.83353276T>ACA2674491754XRCC4c.*34T>A (n.*34T>A)
c.894-16991T>A (n.894-16991T>A)
 gnomAD v4
5g.83353276T>CCA2674491755XRCC4c.*34T>C (n.*34T>C)
c.894-16991T>C (n.894-16991T>C)
 gnomAD v4
5g.83353276dupCA2674491752XRCC4c.*34dup (n.*34dup)
c.894-16991dup (n.894-16991dup)
 gnomAD v4
5g.83353277_83353278delCA2674491753XRCC4c.*35_*36del (n.*35_*36del)
c.894-16990_894-16989del (n.894-16990_894-16989del)
 gnomAD v4
5g.83353277A=CA1559694289XRCC4c.*35A= (n.*35A=)
c.894-16990A= (n.894-16990A=)
5g.83353277A>GCA3332337XRCC4c.*35A>G (n.*35A>G)
c.894-16990A>G (n.894-16990A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353278T>CCA2674491756XRCC4c.*36T>C (n.*36T>C)
c.894-16989T>C (n.894-16989T>C)
 gnomAD v4
5g.83353278T>GCA1559694291XRCC4c.*36T>G (n.*36T>G)
c.894-16989T>G (n.894-16989T>G)
 dbSNP
5g.83353278T=CA1559694292XRCC4c.*36T= (n.*36T=)
c.894-16989T= (n.894-16989T=)
5g.83353279G=CA1559694293XRCC4c.*37G= (n.*37G=)
c.894-16988G= (n.894-16988G=)
5g.83353279G>TCA3332338XRCC4c.*37G>T (n.*37G>T)
c.894-16988G>T (n.894-16988G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353280T>CCA2578353679XRCC4c.*38T>C (n.*38T>C)
c.894-16987T>C (n.894-16987T>C)
 gnomAD v4
5g.83353280T>GCA2578353678XRCC4c.*38T>G (n.*38T>G)
c.894-16987T>G (n.894-16987T>G)
5g.83353282T>CCA2674491757XRCC4c.*40T>C (n.*40T>C)
c.894-16985T>C (n.894-16985T>C)
 gnomAD v4
5g.83353283T>CCA3332339XRCC4c.*41T>C (n.*41T>C)
c.894-16984T>C (n.894-16984T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353283T=CA1559694295XRCC4c.*41T= (n.*41T=)
c.894-16984T= (n.894-16984T=)
5g.83353284C>ACA2674491758XRCC4c.*42C>A (n.*42C>A)
c.894-16983C>A (n.894-16983C>A)
 gnomAD v4
5g.83353284C=CA1559694298XRCC4c.*42C= (n.*42C=)
c.894-16983C= (n.894-16983C=)
5g.83353284C>GCA3332340XRCC4c.*42C>G (n.*42C>G)
c.894-16983C>G (n.894-16983C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched