Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.83353129A>CCA360357591XRCC4c.894-2A>C (n.894-2A>C)
c.898A>C (p.Arg300=)
c.238A>C (p.Arg80=)
c.894-17138A>C (n.894-17138A>C)
5g.83353129A>GCA360357589XRCC4c.894-2A>G (n.894-2A>G)
c.898A>G (p.Arg300Gly)
c.238A>G (p.Arg80Gly)
c.894-17138A>G (n.894-17138A>G)
 gnomAD v4
5g.83353129A>TCA360357590XRCC4c.894-2A>T (n.894-2A>T)
c.898A>T (p.Arg300Trp)
c.238A>T (p.Arg80Trp)
c.894-17138A>T (n.894-17138A>T)
5g.83353130G>ACA360357592XRCC4c.894-1G>A (n.894-1G>A)
c.899G>A (p.Arg300Lys)
c.239G>A (p.Arg80Lys)
c.894-17137G>A (n.894-17137G>A)
5g.83353130G>CCA360357593XRCC4c.894-1G>C (n.894-1G>C)
c.899G>C (p.Arg300Thr)
c.239G>C (p.Arg80Thr)
c.894-17137G>C (n.894-17137G>C)
5g.83353130G>TCA360357594XRCC4c.894-1G>T (n.894-1G>T)
c.899G>T (p.Arg300Met)
c.239G>T (p.Arg80Met)
c.894-17137G>T (n.894-17137G>T)
5g.83353131G>ACA3332304XRCC4c.894G>A (p.Lys298=)
c.900G>A (p.Arg300=)
c.240G>A (p.Arg80=)
c.894-17136G>A (n.894-17136G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353131G>CCA360357595XRCC4c.894G>C (p.Lys298Asn)
c.900G>C (p.Arg300Ser)
c.240G>C (p.Arg80Ser)
c.894-17136G>C (n.894-17136G>C)
5g.83353131G=CA1559694051XRCC4c.894G= (p.Lys298=)
c.900G= (p.Arg300=)
c.240G= (p.Arg80=)
c.894-17136G= (n.894-17136G=)
5g.83353131G>TCA360357596XRCC4c.894G>T (p.Lys298Asn)
c.900G>T (p.Arg300Ser)
c.240G>T (p.Arg80Ser)
c.894-17136G>T (n.894-17136G>T)
 gnomAD v4
5g.83353132C>ACA360357597XRCC4c.895C>A (p.Pro299Thr)
c.901C>A (p.Pro301Thr)
c.241C>A (p.Pro81Thr)
c.894-17135C>A (n.894-17135C>A)
5g.83353132C>GCA360357598XRCC4c.895C>G (p.Pro299Ala)
c.901C>G (p.Pro301Ala)
c.241C>G (p.Pro81Ala)
c.894-17135C>G (n.894-17135C>G)
5g.83353132C>TCA360357599XRCC4c.895C>T (p.Pro299Ser)
c.901C>T (p.Pro301Ser)
c.241C>T (p.Pro81Ser)
c.894-17135C>T (n.894-17135C>T)
 gnomAD v4
5g.83353133C>ACA360357600XRCC4c.896C>A (p.Pro299His)
c.902C>A (p.Pro301His)
c.242C>A (p.Pro81His)
c.894-17134C>A (n.894-17134C>A)
 gnomAD v4
5g.83353133C=CA1559694054XRCC4c.896C= (p.Pro299=)
c.902C= (p.Pro301=)
c.242C= (p.Pro81=)
c.894-17134C= (n.894-17134C=)
5g.83353133C>GCA360357601XRCC4c.896C>G (p.Pro299Arg)
c.902C>G (p.Pro301Arg)
c.242C>G (p.Pro81Arg)
c.894-17134C>G (n.894-17134C>G)
 dbSNP
5g.83353133C>TCA360357602XRCC4c.896C>T (p.Pro299Leu)
c.902C>T (p.Pro301Leu)
c.242C>T (p.Pro81Leu)
c.894-17134C>T (n.894-17134C>T)
5g.83353134T>ACA445279249XRCC4c.897T>A (p.Pro299=)
c.903T>A (p.Pro301=)
c.243T>A (p.Pro81=)
c.894-17133T>A (n.894-17133T>A)
5g.83353134T>CCA445279250XRCC4c.897T>C (p.Pro299=)
c.903T>C (p.Pro301=)
c.243T>C (p.Pro81=)
c.894-17133T>C (n.894-17133T>C)
 dbSNP gnomAD v4
5g.83353134T>GCA445279251XRCC4c.897T>G (p.Pro299=)
c.903T>G (p.Pro301=)
c.243T>G (p.Pro81=)
c.894-17133T>G (n.894-17133T>G)
5g.83353134T=CA1559694056XRCC4c.897T= (p.Pro299=)
c.903T= (p.Pro301=)
c.243T= (p.Pro81=)
c.894-17133T= (n.894-17133T=)
5g.83353135G>ACA360357603XRCC4c.898G>A (p.Asp300Asn)
c.904G>A (p.Asp302Asn)
c.244G>A (p.Asp82Asn)
c.894-17132G>A (n.894-17132G>A)
 gnomAD v4
5g.83353135G>CCA360357605XRCC4c.898G>C (p.Asp300His)
c.904G>C (p.Asp302His)
c.244G>C (p.Asp82His)
c.894-17132G>C (n.894-17132G>C)
5g.83353135G>TCA360357604XRCC4c.898G>T (p.Asp300Tyr)
c.904G>T (p.Asp302Tyr)
c.244G>T (p.Asp82Tyr)
c.894-17132G>T (n.894-17132G>T)
 gnomAD v4
5g.83353136A>CCA360357606XRCC4c.899A>C (p.Asp300Ala)
c.905A>C (p.Asp302Ala)
c.245A>C (p.Asp82Ala)
c.894-17131A>C (n.894-17131A>C)
5g.83353136A>GCA360357607XRCC4c.899A>G (p.Asp300Gly)
c.905A>G (p.Asp302Gly)
c.245A>G (p.Asp82Gly)
c.894-17131A>G (n.894-17131A>G)
5g.83353136A>TCA360357608XRCC4c.899A>T (p.Asp300Val)
c.905A>T (p.Asp302Val)
c.245A>T (p.Asp82Val)
c.894-17131A>T (n.894-17131A>T)
5g.83353137T>ACA360357609XRCC4c.900T>A (p.Asp300Glu)
c.906T>A (p.Asp302Glu)
c.246T>A (p.Asp82Glu)
c.894-17130T>A (n.894-17130T>A)
5g.83353137T>CCA445279252XRCC4c.900T>C (p.Asp300=)
c.906T>C (p.Asp302=)
c.246T>C (p.Asp82=)
c.894-17130T>C (n.894-17130T>C)
5g.83353137T>GCA360357610XRCC4c.900T>G (p.Asp300Glu)
c.906T>G (p.Asp302Glu)
c.246T>G (p.Asp82Glu)
c.894-17130T>G (n.894-17130T>G)
5g.83353138T>ACA360357611XRCC4c.901T>A (p.Ser301Thr)
c.907T>A (p.Ser303Thr)
c.247T>A (p.Ser83Thr)
c.894-17129T>A (n.894-17129T>A)
 gnomAD v4
5g.83353138T>CCA122029003XRCC4c.901T>C (p.Ser301Pro)
c.907T>C (p.Ser303Pro)
c.247T>C (p.Ser83Pro)
c.894-17129T>C (n.894-17129T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.83353138T>GCA360357612XRCC4c.901T>G (p.Ser301Ala)
c.907T>G (p.Ser303Ala)
c.247T>G (p.Ser83Ala)
c.894-17129T>G (n.894-17129T>G)
5g.83353138T=CA1559694060XRCC4c.901T= (p.Ser301=)
c.907T= (p.Ser303=)
c.247T= (p.Ser83=)
c.894-17129T= (n.894-17129T=)
5g.83353139C>ACA360357613XRCC4c.902C>A (p.Ser301Tyr)
c.908C>A (p.Ser303Tyr)
c.248C>A (p.Ser83Tyr)
c.894-17128C>A (n.894-17128C>A)
 gnomAD v4 COSMIC COSMIC
5g.83353139C>GCA360357614XRCC4c.902C>G (p.Ser301Cys)
c.908C>G (p.Ser303Cys)
c.248C>G (p.Ser83Cys)
c.894-17128C>G (n.894-17128C>G)
5g.83353139C>TCA360357615XRCC4c.902C>T (p.Ser301Phe)
c.908C>T (p.Ser303Phe)
c.248C>T (p.Ser83Phe)
c.894-17128C>T (n.894-17128C>T)
 COSMIC COSMIC
5g.83353140T>ACA445279253XRCC4c.903T>A (p.Ser301=)
c.909T>A (p.Ser303=)
c.249T>A (p.Ser83=)
c.894-17127T>A (n.894-17127T>A)
 gnomAD v4
5g.83353140T>CCA445279254XRCC4c.903T>C (p.Ser301=)
c.909T>C (p.Ser303=)
c.249T>C (p.Ser83=)
c.894-17127T>C (n.894-17127T>C)
 gnomAD v4
5g.83353140T>GCA445279255XRCC4c.903T>G (p.Ser301=)
c.909T>G (p.Ser303=)
c.249T>G (p.Ser83=)
c.894-17127T>G (n.894-17127T>G)
5g.83353141T>ACA360357616XRCC4c.904T>A (p.Ser302Thr)
c.910T>A (p.Ser304Thr)
c.250T>A (p.Ser84Thr)
c.894-17126T>A (n.894-17126T>A)
5g.83353141T>CCA360357617XRCC4c.904T>C (p.Ser302Pro)
c.910T>C (p.Ser304Pro)
c.250T>C (p.Ser84Pro)
c.894-17126T>C (n.894-17126T>C)
5g.83353141T>GCA360357618XRCC4c.904T>G (p.Ser302Ala)
c.910T>G (p.Ser304Ala)
c.250T>G (p.Ser84Ala)
c.894-17126T>G (n.894-17126T>G)
5g.83353142C>ACA360357620XRCC4c.905C>A (p.Ser302Ter)
c.911C>A (p.Ser304Ter)
c.251C>A (p.Ser84Ter)
c.894-17125C>A (n.894-17125C>A)
5g.83353142C=CA1559694064XRCC4c.905C= (p.Ser302=)
c.911C= (p.Ser304=)
c.251C= (p.Ser84=)
c.894-17125C= (n.894-17125C=)
5g.83353142C>GCA360357619XRCC4c.905C>G (p.Ser302Ter)
c.911C>G (p.Ser304Ter)
c.251C>G (p.Ser84Ter)
c.894-17125C>G (n.894-17125C>G)
5g.83353142C>TCA3332305XRCC4c.905C>T (p.Ser302Leu)
c.911C>T (p.Ser304Leu)
c.251C>T (p.Ser84Leu)
c.894-17125C>T (n.894-17125C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353143A>CCA445279256XRCC4c.906A>C (p.Ser302=)
c.912A>C (p.Ser304=)
c.252A>C (p.Ser84=)
c.894-17124A>C (n.894-17124A>C)
5g.83353143A>GCA445279258XRCC4c.906A>G (p.Ser302=)
c.912A>G (p.Ser304=)
c.252A>G (p.Ser84=)
c.894-17124A>G (n.894-17124A>G)
5g.83353143A>TCA445279257XRCC4c.906A>T (p.Ser302=)
c.912A>T (p.Ser304=)
c.252A>T (p.Ser84=)
c.894-17124A>T (n.894-17124A>T)
5g.83353144C>ACA360357621XRCC4c.907C>A (p.Leu303Ile)
c.913C>A (p.Leu305Ile)
c.253C>A (p.Leu85Ile)
c.894-17123C>A (n.894-17123C>A)
5g.83353144C>GCA360357622XRCC4c.907C>G (p.Leu303Val)
c.913C>G (p.Leu305Val)
c.253C>G (p.Leu85Val)
c.894-17123C>G (n.894-17123C>G)
5g.83353144C>TCA445279259XRCC4c.907C>T (p.Leu303=)
c.913C>T (p.Leu305=)
c.253C>T (p.Leu85=)
c.894-17123C>T (n.894-17123C>T)
5g.83353145T>ACA360357623XRCC4c.908T>A (p.Leu303Gln)
c.914T>A (p.Leu305Gln)
c.254T>A (p.Leu85Gln)
c.894-17122T>A (n.894-17122T>A)
5g.83353145T>CCA122029004XRCC4c.908T>C (p.Leu303Pro)
c.914T>C (p.Leu305Pro)
c.254T>C (p.Leu85Pro)
c.894-17122T>C (n.894-17122T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.83353145T>GCA360357624XRCC4c.908T>G (p.Leu303Arg)
c.914T>G (p.Leu305Arg)
c.254T>G (p.Leu85Arg)
c.894-17122T>G (n.894-17122T>G)
5g.83353145T=CA1559694066XRCC4c.908T= (p.Leu303=)
c.914T= (p.Leu305=)
c.254T= (p.Leu85=)
c.894-17122T= (n.894-17122T=)
5g.83353146A>CCA445279260XRCC4c.909A>C (p.Leu303=)
c.915A>C (p.Leu305=)
c.255A>C (p.Leu85=)
c.894-17121A>C (n.894-17121A>C)
5g.83353146A>GCA445279261XRCC4c.909A>G (p.Leu303=)
c.915A>G (p.Leu305=)
c.255A>G (p.Leu85=)
c.894-17121A>G (n.894-17121A>G)
5g.83353146A>TCA445279262XRCC4c.909A>T (p.Leu303=)
c.915A>T (p.Leu305=)
c.255A>T (p.Leu85=)
c.894-17121A>T (n.894-17121A>T)
5g.83353147C>ACA360357625XRCC4c.910C>A (p.Pro304Thr)
c.916C>A (p.Pro306Thr)
c.256C>A (p.Pro86Thr)
c.894-17120C>A (n.894-17120C>A)
5g.83353147C=CA1559694068XRCC4c.910C= (p.Pro304=)
c.916C= (p.Pro306=)
c.256C= (p.Pro86=)
c.894-17120C= (n.894-17120C=)
5g.83353147C>GCA360357626XRCC4c.910C>G (p.Pro304Ala)
c.916C>G (p.Pro306Ala)
c.256C>G (p.Pro86Ala)
c.894-17120C>G (n.894-17120C>G)
5g.83353147C>TCA360357627XRCC4c.910C>T (p.Pro304Ser)
c.916C>T (p.Pro306Ser)
c.256C>T (p.Pro86Ser)
c.894-17120C>T (n.894-17120C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.83353148C>ACA360357628XRCC4c.911C>A (p.Pro304His)
c.917C>A (p.Pro306His)
c.257C>A (p.Pro86His)
c.894-17119C>A (n.894-17119C>A)
5g.83353148C>GCA360357629XRCC4c.911C>G (p.Pro304Arg)
c.917C>G (p.Pro306Arg)
c.257C>G (p.Pro86Arg)
c.894-17119C>G (n.894-17119C>G)
5g.83353148C>TCA360357630XRCC4c.911C>T (p.Pro304Leu)
c.917C>T (p.Pro306Leu)
c.257C>T (p.Pro86Leu)
c.894-17119C>T (n.894-17119C>T)
5g.83353149T>ACA445279263XRCC4c.912T>A (p.Pro304=)
c.918T>A (p.Pro306=)
c.258T>A (p.Pro86=)
c.894-17118T>A (n.894-17118T>A)
5g.83353149T>CCA445279264XRCC4c.912T>C (p.Pro304=)
c.918T>C (p.Pro306=)
c.258T>C (p.Pro86=)
c.894-17118T>C (n.894-17118T>C)
 gnomAD v4
5g.83353149T>GCA445279265XRCC4c.912T>G (p.Pro304=)
c.918T>G (p.Pro306=)
c.258T>G (p.Pro86=)
c.894-17118T>G (n.894-17118T>G)
5g.83353150G>ACA360357631XRCC4c.913G>A (p.Glu305Lys)
c.919G>A (p.Glu307Lys)
c.259G>A (p.Glu87Lys)
c.894-17117G>A (n.894-17117G>A)
 gnomAD v4
5g.83353150G>CCA360357632XRCC4c.913G>C (p.Glu305Gln)
c.919G>C (p.Glu307Gln)
c.259G>C (p.Glu87Gln)
c.894-17117G>C (n.894-17117G>C)
5g.83353150G=CA1559694071XRCC4c.913G= (p.Glu305=)
c.919G= (p.Glu307=)
c.259G= (p.Glu87=)
c.894-17117G= (n.894-17117G=)
5g.83353150G>TCA360357633XRCC4c.913G>T (p.Glu305Ter)
c.919G>T (p.Glu307Ter)
c.259G>T (p.Glu87Ter)
c.894-17117G>T (n.894-17117G>T)
5g.83353151A=CA1559694075XRCC4c.914A= (p.Glu305=)
c.920A= (p.Glu307=)
c.260A= (p.Glu87=)
c.894-17116A= (n.894-17116A=)
5g.83353151A>CCA360357635XRCC4c.914A>C (p.Glu305Ala)
c.920A>C (p.Glu307Ala)
c.260A>C (p.Glu87Ala)
c.894-17116A>C (n.894-17116A>C)
5g.83353151A>GCA122029005XRCC4c.914A>G (p.Glu305Gly)
c.920A>G (p.Glu307Gly)
c.260A>G (p.Glu87Gly)
c.894-17116A>G (n.894-17116A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.83353151A>TCA360357634XRCC4c.914A>T (p.Glu305Val)
c.920A>T (p.Glu307Val)
c.260A>T (p.Glu87Val)
c.894-17116A>T (n.894-17116A>T)
5g.83353154_83353155insTAGACCA814706125XRCC4c.917_918insTAGAC (p.Ser307ArgfsTer15)
c.923_924insTAGAC (p.Ser309ArgfsTer15)
c.263_264insTAGAC (p.Ser89ArgfsTer15)
c.894-17113_894-17112insTAGAC (n.894-17113_894-17112insTAGAC)
 dbSNP
5g.83353152G>ACA445279266XRCC4c.915G>A (p.Glu305=)
c.921G>A (p.Glu307=)
c.261G>A (p.Glu87=)
c.894-17115G>A (n.894-17115G>A)
 ClinVar dbSNP gnomAD v4
5g.83353152G>CCA360357636XRCC4c.915G>C (p.Glu305Asp)
c.921G>C (p.Glu307Asp)
c.261G>C (p.Glu87Asp)
c.894-17115G>C (n.894-17115G>C)
5g.83353152G=CA1559694079XRCC4c.915G= (p.Glu305=)
c.921G= (p.Glu307=)
c.261G= (p.Glu87=)
c.894-17115G= (n.894-17115G=)
5g.83353152G>TCA360357637XRCC4c.915G>T (p.Glu305Asp)
c.921G>T (p.Glu307Asp)
c.261G>T (p.Glu87Asp)
c.894-17115G>T (n.894-17115G>T)
5g.83353153A=CA1559694081XRCC4c.916A= (p.Thr306=)
c.922A= (p.Thr308=)
c.262A= (p.Thr88=)
c.894-17114A= (n.894-17114A=)
5g.83353153A>CCA360357638XRCC4c.916A>C (p.Thr306Pro)
c.922A>C (p.Thr308Pro)
c.262A>C (p.Thr88Pro)
c.894-17114A>C (n.894-17114A>C)
5g.83353153A>GCA3332306XRCC4c.916A>G (p.Thr306Ala)
c.922A>G (p.Thr308Ala)
c.262A>G (p.Thr88Ala)
c.894-17114A>G (n.894-17114A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353153A>TCA360357639XRCC4c.916A>T (p.Thr306Ser)
c.922A>T (p.Thr308Ser)
c.262A>T (p.Thr88Ser)
c.894-17114A>T (n.894-17114A>T)
5g.83353154C>ACA360357640XRCC4c.917C>A (p.Thr306Lys)
c.923C>A (p.Thr308Lys)
c.263C>A (p.Thr88Lys)
c.894-17113C>A (n.894-17113C>A)
5g.83353154C=CA1559694084XRCC4c.917C= (p.Thr306=)
c.923C= (p.Thr308=)
c.263C= (p.Thr88=)
c.894-17113C= (n.894-17113C=)
5g.83353154C>GCA360357641XRCC4c.917C>G (p.Thr306Arg)
c.923C>G (p.Thr308Arg)
c.263C>G (p.Thr88Arg)
c.894-17113C>G (n.894-17113C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.83353154C>TCA3332307XRCC4c.917C>T (p.Thr306Met)
c.923C>T (p.Thr308Met)
c.263C>T (p.Thr88Met)
c.894-17113C>T (n.894-17113C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353155G>ACA3332308XRCC4c.918G>A (p.Thr306=)
c.924G>A (p.Thr308=)
c.264G>A (p.Thr88=)
c.894-17112G>A (n.894-17112G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353155G>CCA445279267XRCC4c.918G>C (p.Thr306=)
c.924G>C (p.Thr308=)
c.264G>C (p.Thr88=)
c.894-17112G>C (n.894-17112G>C)
5g.83353155G=CA1559694090XRCC4c.918G= (p.Thr306=)
c.924G= (p.Thr308=)
c.264G= (p.Thr88=)
c.894-17112G= (n.894-17112G=)
5g.83353155G>TCA3332309XRCC4c.918G>T (p.Thr306=)
c.924G>T (p.Thr308=)
c.264G>T (p.Thr88=)
c.894-17112G>T (n.894-17112G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353156T>ACA360357642XRCC4c.919T>A (p.Ser307Thr)
c.925T>A (p.Ser309Thr)
c.265T>A (p.Ser89Thr)
c.894-17111T>A (n.894-17111T>A)
5g.83353156T>CCA360357643XRCC4c.919T>C (p.Ser307Pro)
c.925T>C (p.Ser309Pro)
c.265T>C (p.Ser89Pro)
c.894-17111T>C (n.894-17111T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.83353156T>GCA360357644XRCC4c.919T>G (p.Ser307Ala)
c.925T>G (p.Ser309Ala)
c.265T>G (p.Ser89Ala)
c.894-17111T>G (n.894-17111T>G)
5g.83353156T=CA1559694096XRCC4c.919T= (p.Ser307=)
c.925T= (p.Ser309=)
c.265T= (p.Ser89=)
c.894-17111T= (n.894-17111T=)
5g.83353157C>ACA360357647XRCC4c.920C>A (p.Ser307Tyr)
c.926C>A (p.Ser309Tyr)
c.266C>A (p.Ser89Tyr)
c.894-17110C>A (n.894-17110C>A)
5g.83353157C=CA1559694099XRCC4c.920C= (p.Ser307=)
c.926C= (p.Ser309=)
c.266C= (p.Ser89=)
c.894-17110C= (n.894-17110C=)
5g.83353157C>GCA360357645XRCC4c.920C>G (p.Ser307Cys)
c.926C>G (p.Ser309Cys)
c.266C>G (p.Ser89Cys)
c.894-17110C>G (n.894-17110C>G)
5g.83353157C>TCA360357646XRCC4c.920C>T (p.Ser307Phe)
c.926C>T (p.Ser309Phe)
c.266C>T (p.Ser89Phe)
c.894-17110C>T (n.894-17110C>T)
 dbSNP gnomAD v3 gnomAD v4
5g.83353158delCA2674491737XRCC4c.921del (p.Lys309ArgfsTer11)
c.927del (p.Lys311ArgfsTer11)
c.267del (p.Lys91ArgfsTer11)
c.894-17109del (n.894-17109del)
 gnomAD v4
5g.83353158T>ACA3332311XRCC4c.921T>A (p.Ser307=)
c.927T>A (p.Ser309=)
c.267T>A (p.Ser89=)
c.894-17109T>A (n.894-17109T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353158T>CCA445279268XRCC4c.921T>C (p.Ser307=)
c.927T>C (p.Ser309=)
c.267T>C (p.Ser89=)
c.894-17109T>C (n.894-17109T>C)
 gnomAD v4
5g.83353158T>GCA3332310XRCC4c.921T>G (p.Ser307=)
c.927T>G (p.Ser309=)
c.267T>G (p.Ser89=)
c.894-17109T>G (n.894-17109T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353158T=CA1559694103XRCC4c.921T= (p.Ser307=)
c.927T= (p.Ser309=)
c.267T= (p.Ser89=)
c.894-17109T= (n.894-17109T=)
5g.83353159A>CCA360357648XRCC4c.922A>C (p.Lys308Gln)
c.928A>C (p.Lys310Gln)
c.268A>C (p.Lys90Gln)
c.894-17108A>C (n.894-17108A>C)
5g.83353159A>GCA360357649XRCC4c.922A>G (p.Lys308Glu)
c.928A>G (p.Lys310Glu)
c.268A>G (p.Lys90Glu)
c.894-17108A>G (n.894-17108A>G)
 gnomAD v4
5g.83353159A>TCA360357650XRCC4c.922A>T (p.Lys308Ter)
c.928A>T (p.Lys310Ter)
c.268A>T (p.Lys90Ter)
c.894-17108A>T (n.894-17108A>T)
5g.83353160A=CA1559694109XRCC4c.923A= (p.Lys308=)
c.929A= (p.Lys310=)
c.269A= (p.Lys90=)
c.894-17107A= (n.894-17107A=)
5g.83353160A>CCA3332312XRCC4c.923A>C (p.Lys308Thr)
c.929A>C (p.Lys310Thr)
c.269A>C (p.Lys90Thr)
c.894-17107A>C (n.894-17107A>C)
 dbSNP ExAC gnomAD v2
5g.83353160A>GCA360357651XRCC4c.923A>G (p.Lys308Arg)
c.929A>G (p.Lys310Arg)
c.269A>G (p.Lys90Arg)
c.894-17107A>G (n.894-17107A>G)
5g.83353160A>TCA360357652XRCC4c.923A>T (p.Lys308Ile)
c.929A>T (p.Lys310Ile)
c.269A>T (p.Lys90Ile)
c.894-17107A>T (n.894-17107A>T)
5g.83353161A>CCA360357653XRCC4c.924A>C (p.Lys308Asn)
c.930A>C (p.Lys310Asn)
c.270A>C (p.Lys90Asn)
c.894-17106A>C (n.894-17106A>C)
5g.83353161A>GCA445279269XRCC4c.924A>G (p.Lys308=)
c.930A>G (p.Lys310=)
c.270A>G (p.Lys90=)
c.894-17106A>G (n.894-17106A>G)
5g.83353161A>TCA360357654XRCC4c.924A>T (p.Lys308Asn)
c.930A>T (p.Lys310Asn)
c.270A>T (p.Lys90Asn)
c.894-17106A>T (n.894-17106A>T)
5g.83353162A>CCA360357655XRCC4c.925A>C (p.Lys309Gln)
c.931A>C (p.Lys311Gln)
c.271A>C (p.Lys91Gln)
c.894-17105A>C (n.894-17105A>C)
5g.83353162A>GCA360357656XRCC4c.925A>G (p.Lys309Glu)
c.931A>G (p.Lys311Glu)
c.271A>G (p.Lys91Glu)
c.894-17105A>G (n.894-17105A>G)
5g.83353162A>TCA360357657XRCC4c.925A>T (p.Lys309Ter)
c.931A>T (p.Lys311Ter)
c.271A>T (p.Lys91Ter)
c.894-17105A>T (n.894-17105A>T)
5g.83353163A=CA1559694115XRCC4c.926A= (p.Lys309=)
c.932A= (p.Lys311=)
c.272A= (p.Lys91=)
c.894-17104A= (n.894-17104A=)
5g.83353163A>CCA360357660XRCC4c.926A>C (p.Lys309Thr)
c.932A>C (p.Lys311Thr)
c.272A>C (p.Lys91Thr)
c.894-17104A>C (n.894-17104A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.83353163A>GCA360357658XRCC4c.926A>G (p.Lys309Arg)
c.932A>G (p.Lys311Arg)
c.272A>G (p.Lys91Arg)
c.894-17104A>G (n.894-17104A>G)
 COSMIC
5g.83353163A>TCA360357659XRCC4c.926A>T (p.Lys309Met)
c.932A>T (p.Lys311Met)
c.272A>T (p.Lys91Met)
c.894-17104A>T (n.894-17104A>T)
 COSMIC COSMIC
5g.83353164G>ACA445279270XRCC4c.927G>A (p.Lys309=)
c.933G>A (p.Lys311=)
c.273G>A (p.Lys91=)
c.894-17103G>A (n.894-17103G>A)
5g.83353164G>CCA360357661XRCC4c.927G>C (p.Lys309Asn)
c.933G>C (p.Lys311Asn)
c.273G>C (p.Lys91Asn)
c.894-17103G>C (n.894-17103G>C)
5g.83353164G=CA1559694120XRCC4c.927G= (p.Lys309=)
c.933G= (p.Lys311=)
c.273G= (p.Lys91=)
c.894-17103G= (n.894-17103G=)
5g.83353164G>TCA360357662XRCC4c.927G>T (p.Lys309Asn)
c.933G>T (p.Lys311Asn)
c.273G>T (p.Lys91Asn)
c.894-17103G>T (n.894-17103G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.83353165G>ACA360357663XRCC4c.928G>A (p.Glu310Lys)
c.934G>A (p.Glu312Lys)
c.274G>A (p.Glu92Lys)
c.894-17102G>A (n.894-17102G>A)
5g.83353165G>CCA360357664XRCC4c.928G>C (p.Glu310Gln)
c.934G>C (p.Glu312Gln)
c.274G>C (p.Glu92Gln)
c.894-17102G>C (n.894-17102G>C)
5g.83353165G>TCA360357665XRCC4c.928G>T (p.Glu310Ter)
c.934G>T (p.Glu312Ter)
c.274G>T (p.Glu92Ter)
c.894-17102G>T (n.894-17102G>T)
5g.83353166A>CCA360357666XRCC4c.929A>C (p.Glu310Ala)
c.935A>C (p.Glu312Ala)
c.275A>C (p.Glu92Ala)
c.894-17101A>C (n.894-17101A>C)
5g.83353166A>GCA360357667XRCC4c.929A>G (p.Glu310Gly)
c.935A>G (p.Glu312Gly)
c.275A>G (p.Glu92Gly)
c.894-17101A>G (n.894-17101A>G)
5g.83353166A>TCA360357668XRCC4c.929A>T (p.Glu310Val)
c.935A>T (p.Glu312Val)
c.275A>T (p.Glu92Val)
c.894-17101A>T (n.894-17101A>T)
5g.83353167G>ACA445279271XRCC4c.930G>A (p.Glu310=)
c.936G>A (p.Glu312=)
c.276G>A (p.Glu92=)
c.894-17100G>A (n.894-17100G>A)
5g.83353167G>CCA360357669XRCC4c.930G>C (p.Glu310Asp)
c.936G>C (p.Glu312Asp)
c.276G>C (p.Glu92Asp)
c.894-17100G>C (n.894-17100G>C)
5g.83353167G>TCA360357670XRCC4c.930G>T (p.Glu310Asp)
c.936G>T (p.Glu312Asp)
c.276G>T (p.Glu92Asp)
c.894-17100G>T (n.894-17100G>T)
5g.83353168C>ACA360357671XRCC4c.931C>A (p.His311Asn)
c.937C>A (p.His313Asn)
c.277C>A (p.His93Asn)
c.894-17099C>A (n.894-17099C>A)
5g.83353168C=CA1559694129XRCC4c.931C= (p.His311=)
c.937C= (p.His313=)
c.277C= (p.His93=)
c.894-17099C= (n.894-17099C=)
5g.83353168C>GCA360357672XRCC4c.931C>G (p.His311Asp)
c.937C>G (p.His313Asp)
c.277C>G (p.His93Asp)
c.894-17099C>G (n.894-17099C>G)
5g.83353168C>TCA360357673XRCC4c.931C>T (p.His311Tyr)
c.937C>T (p.His313Tyr)
c.277C>T (p.His93Tyr)
c.894-17099C>T (n.894-17099C>T)
 dbSNP
5g.83353169A=CA1559694134XRCC4c.932A= (p.His311=)
c.938A= (p.His313=)
c.278A= (p.His93=)
c.894-17098A= (n.894-17098A=)
5g.83353169A>CCA360357675XRCC4c.932A>C (p.His311Pro)
c.938A>C (p.His313Pro)
c.278A>C (p.His93Pro)
c.894-17098A>C (n.894-17098A>C)
5g.83353169A>GCA122029006XRCC4c.932A>G (p.His311Arg)
c.938A>G (p.His313Arg)
c.278A>G (p.His93Arg)
c.894-17098A>G (n.894-17098A>G)
 dbSNP
5g.83353169A>TCA360357674XRCC4c.932A>T (p.His311Leu)
c.938A>T (p.His313Leu)
c.278A>T (p.His93Leu)
c.894-17098A>T (n.894-17098A>T)
5g.83353170C>ACA360357676XRCC4c.933C>A (p.His311Gln)
c.939C>A (p.His313Gln)
c.279C>A (p.His93Gln)
c.894-17097C>A (n.894-17097C>A)
5g.83353170C=CA1559694136XRCC4c.933C= (p.His311=)
c.939C= (p.His313=)
c.279C= (p.His93=)
c.894-17097C= (n.894-17097C=)
5g.83353170C>GCA360357677XRCC4c.933C>G (p.His311Gln)
c.939C>G (p.His313Gln)
c.279C>G (p.His93Gln)
c.894-17097C>G (n.894-17097C>G)
5g.83353170C>TCA445279272XRCC4c.933C>T (p.His311=)
c.939C>T (p.His313=)
c.279C>T (p.His93=)
c.894-17097C>T (n.894-17097C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.83353171A>CCA360357678XRCC4c.934A>C (p.Ile312Leu)
c.940A>C (p.Ile314Leu)
c.280A>C (p.Ile94Leu)
c.894-17096A>C (n.894-17096A>C)
5g.83353171A>GCA360357679XRCC4c.934A>G (p.Ile312Val)
c.940A>G (p.Ile314Val)
c.280A>G (p.Ile94Val)
c.894-17096A>G (n.894-17096A>G)
5g.83353171A>TCA360357680XRCC4c.934A>T (p.Ile312Phe)
c.940A>T (p.Ile314Phe)
c.280A>T (p.Ile94Phe)
c.894-17096A>T (n.894-17096A>T)
5g.83353172T>ACA360357681XRCC4c.935T>A (p.Ile312Asn)
c.941T>A (p.Ile314Asn)
c.281T>A (p.Ile94Asn)
c.894-17095T>A (n.894-17095T>A)
5g.83353172T>CCA360357682XRCC4c.935T>C (p.Ile312Thr)
c.941T>C (p.Ile314Thr)
c.281T>C (p.Ile94Thr)
c.894-17095T>C (n.894-17095T>C)
5g.83353172T>GCA360357683XRCC4c.935T>G (p.Ile312Ser)
c.941T>G (p.Ile314Ser)
c.281T>G (p.Ile94Ser)
c.894-17095T>G (n.894-17095T>G)
5g.83353173C>ACA445279273XRCC4c.936C>A (p.Ile312=)
c.942C>A (p.Ile314=)
c.282C>A (p.Ile94=)
c.894-17094C>A (n.894-17094C>A)
5g.83353173C>GCA360357684XRCC4c.936C>G (p.Ile312Met)
c.942C>G (p.Ile314Met)
c.282C>G (p.Ile94Met)
c.894-17094C>G (n.894-17094C>G)
5g.83353173C>TCA445279274XRCC4c.936C>T (p.Ile312=)
c.942C>T (p.Ile314=)
c.282C>T (p.Ile94=)
c.894-17094C>T (n.894-17094C>T)
 gnomAD v4 COSMIC COSMIC
5g.83353174T>ACA360357685XRCC4c.937T>A (p.Ser313Thr)
c.943T>A (p.Ser315Thr)
c.283T>A (p.Ser95Thr)
c.894-17093T>A (n.894-17093T>A)
5g.83353174T>CCA360357686XRCC4c.937T>C (p.Ser313Pro)
c.943T>C (p.Ser315Pro)
c.283T>C (p.Ser95Pro)
c.894-17093T>C (n.894-17093T>C)
 gnomAD v4
5g.83353174T>GCA360357687XRCC4c.937T>G (p.Ser313Ala)
c.943T>G (p.Ser315Ala)
c.283T>G (p.Ser95Ala)
c.894-17093T>G (n.894-17093T>G)
5g.83353175C>ACA360357688XRCC4c.938C>A (p.Ser313Ter)
c.944C>A (p.Ser315Ter)
c.284C>A (p.Ser95Ter)
c.894-17092C>A (n.894-17092C>A)
5g.83353175C=CA1559694139XRCC4c.938C= (p.Ser313=)
c.944C= (p.Ser315=)
c.284C= (p.Ser95=)
c.894-17092C= (n.894-17092C=)
5g.83353175C>GCA3332314XRCC4c.938C>G (p.Ser313Ter)
c.944C>G (p.Ser315Ter)
c.284C>G (p.Ser95Ter)
c.894-17092C>G (n.894-17092C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353175C>TCA3332313XRCC4c.938C>T (p.Ser313Leu)
c.944C>T (p.Ser315Leu)
c.284C>T (p.Ser95Leu)
c.894-17092C>T (n.894-17092C>T)
 dbSNP ExAC gnomAD v4
5g.83353176A>CCA445279275XRCC4c.939A>C (p.Ser313=)
c.945A>C (p.Ser315=)
c.285A>C (p.Ser95=)
c.894-17091A>C (n.894-17091A>C)
5g.83353176A>GCA445279276XRCC4c.939A>G (p.Ser313=)
c.945A>G (p.Ser315=)
c.285A>G (p.Ser95=)
c.894-17091A>G (n.894-17091A>G)
5g.83353176A>TCA445279277XRCC4c.939A>T (p.Ser313=)
c.945A>T (p.Ser315=)
c.285A>T (p.Ser95=)
c.894-17091A>T (n.894-17091A>T)
5g.83353177G>ACA360357691XRCC4c.940G>A (p.Ala314Thr)
c.946G>A (p.Ala316Thr)
c.286G>A (p.Ala96Thr)
c.894-17090G>A (n.894-17090G>A)
5g.83353177G>CCA360357689XRCC4c.940G>C (p.Ala314Pro)
c.946G>C (p.Ala316Pro)
c.286G>C (p.Ala96Pro)
c.894-17090G>C (n.894-17090G>C)
5g.83353177G>TCA360357690XRCC4c.940G>T (p.Ala314Ser)
c.946G>T (p.Ala316Ser)
c.286G>T (p.Ala96Ser)
c.894-17090G>T (n.894-17090G>T)
 COSMIC
5g.83353178C>ACA360357692XRCC4c.941C>A (p.Ala314Asp)
c.947C>A (p.Ala316Asp)
c.287C>A (p.Ala96Asp)
c.894-17089C>A (n.894-17089C>A)
5g.83353178C=CA1559694142XRCC4c.941C= (p.Ala314=)
c.947C= (p.Ala316=)
c.287C= (p.Ala96=)
c.894-17089C= (n.894-17089C=)
5g.83353178C>GCA122029007XRCC4c.941C>G (p.Ala314Gly)
c.947C>G (p.Ala316Gly)
c.287C>G (p.Ala96Gly)
c.894-17089C>G (n.894-17089C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.83353178C>TCA360357693XRCC4c.941C>T (p.Ala314Val)
c.947C>T (p.Ala316Val)
c.287C>T (p.Ala96Val)
c.894-17089C>T (n.894-17089C>T)
 gnomAD v4
5g.83353179T>ACA445279278XRCC4c.942T>A (p.Ala314=)
c.948T>A (p.Ala316=)
c.288T>A (p.Ala96=)
c.894-17088T>A (n.894-17088T>A)
5g.83353179T>CCA445279279XRCC4c.942T>C (p.Ala314=)
c.948T>C (p.Ala316=)
c.288T>C (p.Ala96=)
c.894-17088T>C (n.894-17088T>C)
5g.83353179T>GCA445279280XRCC4c.942T>G (p.Ala314=)
c.948T>G (p.Ala316=)
c.288T>G (p.Ala96=)
c.894-17088T>G (n.894-17088T>G)
5g.83353180G>ACA3332315XRCC4c.943G>A (p.Glu315Lys)
c.949G>A (p.Glu317Lys)
c.289G>A (p.Glu97Lys)
c.894-17087G>A (n.894-17087G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353180G>CCA360357694XRCC4c.943G>C (p.Glu315Gln)
c.949G>C (p.Glu317Gln)
c.289G>C (p.Glu97Gln)
c.894-17087G>C (n.894-17087G>C)
 dbSNP gnomAD v4
5g.83353180G=CA1559694146XRCC4c.943G= (p.Glu315=)
c.949G= (p.Glu317=)
c.289G= (p.Glu97=)
c.894-17087G= (n.894-17087G=)
5g.83353180G>TCA360357695XRCC4c.943G>T (p.Glu315Ter)
c.949G>T (p.Glu317Ter)
c.289G>T (p.Glu97Ter)
c.894-17087G>T (n.894-17087G>T)
5g.83353181A>CCA360357696XRCC4c.944A>C (p.Glu315Ala)
c.950A>C (p.Glu317Ala)
c.290A>C (p.Glu97Ala)
c.894-17086A>C (n.894-17086A>C)
5g.83353181A>GCA360357697XRCC4c.944A>G (p.Glu315Gly)
c.950A>G (p.Glu317Gly)
c.290A>G (p.Glu97Gly)
c.894-17086A>G (n.894-17086A>G)
5g.83353181A>TCA360357698XRCC4c.944A>T (p.Glu315Val)
c.950A>T (p.Glu317Val)
c.290A>T (p.Glu97Val)
c.894-17086A>T (n.894-17086A>T)
5g.83353184delCA2767243978XRCC4c.947del (p.Asn316ThrfsTer4)
c.953del (p.Asn318ThrfsTer4)
c.293del (p.Asn98ThrfsTer4)
c.894-17083del (n.894-17083del)
5g.83353182A>CCA360357699XRCC4c.945A>C (p.Glu315Asp)
c.951A>C (p.Glu317Asp)
c.291A>C (p.Glu97Asp)
c.894-17085A>C (n.894-17085A>C)
5g.83353182A>GCA445279281XRCC4c.945A>G (p.Glu315=)
c.951A>G (p.Glu317=)
c.291A>G (p.Glu97=)
c.894-17085A>G (n.894-17085A>G)
5g.83353182A>TCA360357700XRCC4c.945A>T (p.Glu315Asp)
c.951A>T (p.Glu317Asp)
c.291A>T (p.Glu97Asp)
c.894-17085A>T (n.894-17085A>T)
5g.83353183A>CCA360357703XRCC4c.946A>C (p.Asn316His)
c.952A>C (p.Asn318His)
c.292A>C (p.Asn98His)
c.894-17084A>C (n.894-17084A>C)
5g.83353183A>GCA360357701XRCC4c.946A>G (p.Asn316Asp)
c.952A>G (p.Asn318Asp)
c.292A>G (p.Asn98Asp)
c.894-17084A>G (n.894-17084A>G)
5g.83353183A>TCA360357702XRCC4c.946A>T (p.Asn316Tyr)
c.952A>T (p.Asn318Tyr)
c.292A>T (p.Asn98Tyr)
c.894-17084A>T (n.894-17084A>T)
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)

Number of alleles fetched