Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.83353068delCA2674491698XRCC4c.894-63del (n.894-63del)
c.894-57del (n.894-57del)
c.234-57del (n.234-57del)
c.894-17199del (n.894-17199del)
 gnomAD v4
5g.83353067_83353083delinsTTCTTTTACTCTATAACCA1559694000XRCC4c.894-64_894-48delinsTTCTTTTACTCTATAAC (n.894-64_894-48delinsTTCTTTTACTCTATAAC)
c.894-58_894-42delinsTTCTTTTACTCTATAAC (n.894-58_894-42delinsTTCTTTTACTCTATAAC)
c.234-58_234-42delinsTTCTTTTACTCTATAAC (n.234-58_234-42delinsTTCTTTTACTCTATAAC)
c.894-17200_894-17184delinsTTCTTTTACTCTATAAC (n.894-17200_894-17184delinsTTCTTTTACTCTATAAC)
5g.83353068T>CCA1559694003XRCC4c.894-63T>C (n.894-63T>C)
c.894-57T>C (n.894-57T>C)
c.234-57T>C (n.234-57T>C)
c.894-17199T>C (n.894-17199T>C)
 dbSNP
5g.83353068T=CA1559694004XRCC4c.894-63T= (n.894-63T=)
c.894-57T= (n.894-57T=)
c.234-57T= (n.234-57T=)
c.894-17199T= (n.894-17199T=)
5g.83353068_83353083delCA1559694002XRCC4c.894-63_894-48del (n.894-63_894-48del)
c.894-57_894-42del (n.894-57_894-42del)
c.234-57_234-42del (n.234-57_234-42del)
c.894-17199_894-17184del (n.894-17199_894-17184del)
 dbSNP gnomAD v4
5g.83353069C>ACA2674491700XRCC4c.894-62C>A (n.894-62C>A)
c.894-56C>A (n.894-56C>A)
c.234-56C>A (n.234-56C>A)
c.894-17198C>A (n.894-17198C>A)
 gnomAD v4
5g.83353069C=CA1559694006XRCC4c.894-62C= (n.894-62C=)
c.894-56C= (n.894-56C=)
c.234-56C= (n.234-56C=)
c.894-17198C= (n.894-17198C=)
5g.83353069C>GCA1559694007XRCC4c.894-62C>G (n.894-62C>G)
c.894-56C>G (n.894-56C>G)
c.234-56C>G (n.234-56C>G)
c.894-17198C>G (n.894-17198C>G)
 dbSNP gnomAD v4
5g.83353073delCA2674491701XRCC4c.894-58del (n.894-58del)
c.894-52del (n.894-52del)
c.234-52del (n.234-52del)
c.894-17194del (n.894-17194del)
 gnomAD v4
5g.83353074delCA2674491702XRCC4c.894-57del (n.894-57del)
c.894-51del (n.894-51del)
c.234-51del (n.234-51del)
c.894-17193del (n.894-17193del)
 gnomAD v4
5g.83353074A>TCA2674491703XRCC4c.894-57A>T (n.894-57A>T)
c.894-51A>T (n.894-51A>T)
c.234-51A>T (n.234-51A>T)
c.894-17193A>T (n.894-17193A>T)
 gnomAD v4
5g.83353075C>ACA2674491704XRCC4c.894-56C>A (n.894-56C>A)
c.894-50C>A (n.894-50C>A)
c.234-50C>A (n.234-50C>A)
c.894-17192C>A (n.894-17192C>A)
 gnomAD v4
5g.83353075C>TCA2674491705XRCC4c.894-56C>T (n.894-56C>T)
c.894-50C>T (n.894-50C>T)
c.234-50C>T (n.234-50C>T)
c.894-17192C>T (n.894-17192C>T)
 gnomAD v4
5g.83353076T>CCA1559694010XRCC4c.894-55T>C (n.894-55T>C)
c.894-49T>C (n.894-49T>C)
c.234-49T>C (n.234-49T>C)
c.894-17191T>C (n.894-17191T>C)
 dbSNP
5g.83353076T=CA1559694009XRCC4c.894-55T= (n.894-55T=)
c.894-49T= (n.894-49T=)
c.234-49T= (n.234-49T=)
c.894-17191T= (n.894-17191T=)
5g.83353077C>ACA2674491707XRCC4c.894-54C>A (n.894-54C>A)
c.894-48C>A (n.894-48C>A)
c.234-48C>A (n.234-48C>A)
c.894-17190C>A (n.894-17190C>A)
 gnomAD v4
5g.83353077C>GCA2674491706XRCC4c.894-54C>G (n.894-54C>G)
c.894-48C>G (n.894-48C>G)
c.234-48C>G (n.234-48C>G)
c.894-17190C>G (n.894-17190C>G)
 dbSNP gnomAD v4
5g.83353078T>CCA2674491708XRCC4c.894-53T>C (n.894-53T>C)
c.894-47T>C (n.894-47T>C)
c.234-47T>C (n.234-47T>C)
c.894-17189T>C (n.894-17189T>C)
 gnomAD v4
5g.83353078T>GCA3332298XRCC4c.894-53T>G (n.894-53T>G)
c.894-47T>G (n.894-47T>G)
c.234-47T>G (n.234-47T>G)
c.894-17189T>G (n.894-17189T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353078T=CA1559694012XRCC4c.894-53T= (n.894-53T=)
c.894-47T= (n.894-47T=)
c.234-47T= (n.234-47T=)
c.894-17189T= (n.894-17189T=)
5g.83353079A=CA1559694015XRCC4c.894-52A= (n.894-52A=)
c.894-46A= (n.894-46A=)
c.234-46A= (n.234-46A=)
c.894-17188A= (n.894-17188A=)
5g.83353079A>GCA3332299XRCC4c.894-52A>G (n.894-52A>G)
c.894-46A>G (n.894-46A>G)
c.234-46A>G (n.234-46A>G)
c.894-17188A>G (n.894-17188A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353082delCA2674491709XRCC4c.894-49del (n.894-49del)
c.894-43del (n.894-43del)
c.234-43del (n.234-43del)
c.894-17185del (n.894-17185del)
 gnomAD v4
5g.83353083C>ACA2674491710XRCC4c.894-48C>A (n.894-48C>A)
c.894-42C>A (n.894-42C>A)
c.234-42C>A (n.234-42C>A)
c.894-17184C>A (n.894-17184C>A)
 gnomAD v4
5g.83353083C>TCA2674491711XRCC4c.894-48C>T (n.894-48C>T)
c.894-42C>T (n.894-42C>T)
c.234-42C>T (n.234-42C>T)
c.894-17184C>T (n.894-17184C>T)
 gnomAD v4
5g.83353084A>GCA2674491712XRCC4c.894-47A>G (n.894-47A>G)
c.894-41A>G (n.894-41A>G)
c.234-41A>G (n.234-41A>G)
c.894-17183A>G (n.894-17183A>G)
 gnomAD v4
5g.83353086_83353088delCA2578353673XRCC4c.894-45_894-43del (n.894-45_894-43del)
c.894-39_894-37del (n.894-39_894-37del)
c.234-39_234-37del (n.234-39_234-37del)
c.894-17181_894-17179del (n.894-17181_894-17179del)
 gnomAD v4
5g.83353085G>ACA560925424XRCC4c.894-46G>A (n.894-46G>A)
c.894-40G>A (n.894-40G>A)
c.234-40G>A (n.234-40G>A)
c.894-17182G>A (n.894-17182G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.83353085G=CA1559694017XRCC4c.894-46G= (n.894-46G=)
c.894-40G= (n.894-40G=)
c.234-40G= (n.234-40G=)
c.894-17182G= (n.894-17182G=)
5g.83353087A=CA1559694018XRCC4c.894-44A= (n.894-44A=)
c.894-38A= (n.894-38A=)
c.234-38A= (n.234-38A=)
c.894-17180A= (n.894-17180A=)
5g.83353087A>TCA1559694019XRCC4c.894-44A>T (n.894-44A>T)
c.894-38A>T (n.894-38A>T)
c.234-38A>T (n.234-38A>T)
c.894-17180A>T (n.894-17180A>T)
 dbSNP
5g.83353090T>CCA2674491713XRCC4c.894-41T>C (n.894-41T>C)
c.894-35T>C (n.894-35T>C)
c.234-35T>C (n.234-35T>C)
c.894-17177T>C (n.894-17177T>C)
 gnomAD v4
5g.83353092T>CCA2674491714XRCC4c.894-39T>C (n.894-39T>C)
c.894-33T>C (n.894-33T>C)
c.234-33T>C (n.234-33T>C)
c.894-17175T>C (n.894-17175T>C)
 gnomAD v4
5g.83353093T>ACA2674491716XRCC4c.894-38T>A (n.894-38T>A)
c.894-32T>A (n.894-32T>A)
c.234-32T>A (n.234-32T>A)
c.894-17174T>A (n.894-17174T>A)
 gnomAD v4
5g.83353098_83353103dupCA2674491715XRCC4c.894-33_894-28dup (n.894-33_894-28dup)
c.894-27_894-22dup (n.894-27_894-22dup)
c.234-27_234-22dup (n.234-27_234-22dup)
c.894-17169_894-17164dup (n.894-17169_894-17164dup)
 gnomAD v4
5g.83353094A>TCA2674491717XRCC4c.894-37A>T (n.894-37A>T)
c.894-31A>T (n.894-31A>T)
c.234-31A>T (n.234-31A>T)
c.894-17173A>T (n.894-17173A>T)
 gnomAD v4
5g.83353095A>GCA2674491718XRCC4c.894-36A>G (n.894-36A>G)
c.894-30A>G (n.894-30A>G)
c.234-30A>G (n.234-30A>G)
c.894-17172A>G (n.894-17172A>G)
 gnomAD v4
5g.83353096A>GCA2674491719XRCC4c.894-35A>G (n.894-35A>G)
c.894-29A>G (n.894-29A>G)
c.234-29A>G (n.234-29A>G)
c.894-17171A>G (n.894-17171A>G)
 gnomAD v4
5g.83353098A=CA1559694020XRCC4c.894-33A= (n.894-33A=)
c.894-27A= (n.894-27A=)
c.234-27A= (n.234-27A=)
c.894-17169A= (n.894-17169A=)
5g.83353098A>CCA1559694021XRCC4c.894-33A>C (n.894-33A>C)
c.894-27A>C (n.894-27A>C)
c.234-27A>C (n.234-27A>C)
c.894-17169A>C (n.894-17169A>C)
 dbSNP
5g.83353099T>CCA2674491720XRCC4c.894-32T>C (n.894-32T>C)
c.894-26T>C (n.894-26T>C)
c.234-26T>C (n.234-26T>C)
c.894-17168T>C (n.894-17168T>C)
 gnomAD v4
5g.83353100A>GCA2674491722XRCC4c.894-31A>G (n.894-31A>G)
c.894-25A>G (n.894-25A>G)
c.234-25A>G (n.234-25A>G)
c.894-17167A>G (n.894-17167A>G)
 gnomAD v4
5g.83353103delCA2674491721XRCC4c.894-28del (n.894-28del)
c.894-22del (n.894-22del)
c.234-22del (n.234-22del)
c.894-17164del (n.894-17164del)
 gnomAD v4
5g.83353102A>CCA2578353674XRCC4c.894-29A>C (n.894-29A>C)
c.894-23A>C (n.894-23A>C)
c.234-23A>C (n.234-23A>C)
c.894-17165A>C (n.894-17165A>C)
 gnomAD v4
5g.83353102A>GCA2674491723XRCC4c.894-29A>G (n.894-29A>G)
c.894-23A>G (n.894-23A>G)
c.234-23A>G (n.234-23A>G)
c.894-17165A>G (n.894-17165A>G)
 gnomAD v4
5g.83353104C>ACA2578353675XRCC4c.894-27C>A (n.894-27C>A)
c.894-21C>A (n.894-21C>A)
c.234-21C>A (n.234-21C>A)
c.894-17163C>A (n.894-17163C>A)
 gnomAD v4
5g.83353104C=CA1559694023XRCC4c.894-27C= (n.894-27C=)
c.894-21C= (n.894-21C=)
c.234-21C= (n.234-21C=)
c.894-17163C= (n.894-17163C=)
5g.83353104C>GCA1559694024XRCC4c.894-27C>G (n.894-27C>G)
c.894-21C>G (n.894-21C>G)
c.234-21C>G (n.234-21C>G)
c.894-17163C>G (n.894-17163C>G)
 dbSNP gnomAD v4
5g.83353106A>CCA2674491724XRCC4c.894-25A>C (n.894-25A>C)
c.894-19A>C (n.894-19A>C)
c.234-19A>C (n.234-19A>C)
c.894-17161A>C (n.894-17161A>C)
 gnomAD v4
5g.83353106A>GCA2674491725XRCC4c.894-25A>G (n.894-25A>G)
c.894-19A>G (n.894-19A>G)
c.234-19A>G (n.234-19A>G)
c.894-17161A>G (n.894-17161A>G)
 gnomAD v4
5g.83353107T>CCA3332300XRCC4c.894-24T>C (n.894-24T>C)
c.894-18T>C (n.894-18T>C)
c.234-18T>C (n.234-18T>C)
c.894-17160T>C (n.894-17160T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353107T=CA1559694025XRCC4c.894-24T= (n.894-24T=)
c.894-18T= (n.894-18T=)
c.234-18T= (n.234-18T=)
c.894-17160T= (n.894-17160T=)
5g.83353110delCA2674491726XRCC4c.894-21del (n.894-21del)
c.894-15del (n.894-15del)
c.234-15del (n.234-15del)
c.894-17157del (n.894-17157del)
 gnomAD v4
5g.83353108T>CCA1078171536XRCC4c.894-23T>C (n.894-23T>C)
c.894-17T>C (n.894-17T>C)
c.234-17T>C (n.234-17T>C)
c.894-17159T>C (n.894-17159T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.83353108T=CA1559694027XRCC4c.894-23T= (n.894-23T=)
c.894-17T= (n.894-17T=)
c.234-17T= (n.234-17T=)
c.894-17159T= (n.894-17159T=)
5g.83353111G=CA1559694028XRCC4c.894-20G= (n.894-20G=)
c.894-14G= (n.894-14G=)
c.234-14G= (n.234-14G=)
c.894-17156G= (n.894-17156G=)
5g.83353111G>TCA122029002XRCC4c.894-20G>T (n.894-20G>T)
c.894-14G>T (n.894-14G>T)
c.234-14G>T (n.234-14G>T)
c.894-17156G>T (n.894-17156G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.83353112A>CCA2674491727XRCC4c.894-19A>C (n.894-19A>C)
c.894-13A>C (n.894-13A>C)
c.234-13A>C (n.234-13A>C)
c.894-17155A>C (n.894-17155A>C)
 gnomAD v4
5g.83353112A>TCA2674491728XRCC4c.894-19A>T (n.894-19A>T)
c.894-13A>T (n.894-13A>T)
c.234-13A>T (n.234-13A>T)
c.894-17155A>T (n.894-17155A>T)
 gnomAD v4
5g.83353112_83353113delinsATCA1559694029XRCC4c.894-19_894-18delinsAT (n.894-19_894-18delinsAT)
c.894-13_894-12delinsAT (n.894-13_894-12delinsAT)
c.234-13_234-12delinsAT (n.234-13_234-12delinsAT)
c.894-17155_894-17154delinsAT (n.894-17155_894-17154delinsAT)
5g.83353113T>ACA2767243977XRCC4c.894-18T>A (n.894-18T>A)
c.894-12T>A (n.894-12T>A)
c.234-12T>A (n.234-12T>A)
c.894-17154T>A (n.894-17154T>A)
5g.83353116dupCA1559694030XRCC4c.894-15dup (n.894-15dup)
c.894-9dup (n.894-9dup)
c.234-9dup (n.234-9dup)
c.894-17151dup (n.894-17151dup)
 dbSNP gnomAD v4
5g.83353116delCA1078171537XRCC4c.894-15del (n.894-15del)
c.894-9del (n.894-9del)
c.234-9del (n.234-9del)
c.894-17151del (n.894-17151del)
 dbSNP gnomAD v3 gnomAD v4
5g.83353114T>CCA2674491729XRCC4c.894-17T>C (n.894-17T>C)
c.894-11T>C (n.894-11T>C)
c.234-11T>C (n.234-11T>C)
c.894-17153T>C (n.894-17153T>C)
 gnomAD v4
5g.83353115T>CCA2709229274XRCC4c.894-16T>C (n.894-16T>C)
c.894-10T>C (n.894-10T>C)
c.234-10T>C (n.234-10T>C)
c.894-17152T>C (n.894-17152T>C)
 dbSNP
5g.83353115T>GCA2674491730XRCC4c.894-16T>G (n.894-16T>G)
c.894-10T>G (n.894-10T>G)
c.234-10T>G (n.234-10T>G)
c.894-17152T>G (n.894-17152T>G)
 gnomAD v4
5g.83353117C>ACA2674491731XRCC4c.894-14C>A (n.894-14C>A)
c.894-8C>A (n.894-8C>A)
c.234-8C>A (n.234-8C>A)
c.894-17150C>A (n.894-17150C>A)
 gnomAD v4
5g.83353118T>CCA2674491733XRCC4c.894-13T>C (n.894-13T>C)
c.894-7T>C (n.894-7T>C)
c.234-7T>C (n.234-7T>C)
c.894-17149T>C (n.894-17149T>C)
 gnomAD v4
5g.83353118T>GCA3332301XRCC4c.894-13T>G (n.894-13T>G)
c.894-7T>G (n.894-7T>G)
c.234-7T>G (n.234-7T>G)
c.894-17149T>G (n.894-17149T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353118T=CA1559694032XRCC4c.894-13T= (n.894-13T=)
c.894-7T= (n.894-7T=)
c.234-7T= (n.234-7T=)
c.894-17149T= (n.894-17149T=)
5g.83353121delCA2674491732XRCC4c.894-10del (n.894-10del)
c.894-4del (n.894-4del)
c.234-4del (n.234-4del)
c.894-17146del (n.894-17146del)
 gnomAD v4
5g.83353119T>CCA2674491734XRCC4c.894-12T>C (n.894-12T>C)
c.894-6T>C (n.894-6T>C)
c.234-6T>C (n.234-6T>C)
c.894-17148T>C (n.894-17148T>C)
 gnomAD v4
5g.83353121T>CCA2674491735XRCC4c.894-10T>C (n.894-10T>C)
c.894-4T>C (n.894-4T>C)
c.234-4T>C (n.234-4T>C)
c.894-17146T>C (n.894-17146T>C)
 gnomAD v4
5g.83353121T>GCA814706058XRCC4c.894-10T>G (n.894-10T>G)
c.894-4T>G (n.894-4T>G)
c.234-4T>G (n.234-4T>G)
c.894-17146T>G (n.894-17146T>G)
 dbSNP
5g.83353121T=CA1559694033XRCC4c.894-10T= (n.894-10T=)
c.894-4T= (n.894-4T=)
c.234-4T= (n.234-4T=)
c.894-17146T= (n.894-17146T=)
5g.83353122C>ACA2674491736XRCC4c.894-9C>A (n.894-9C>A)
c.894-3C>A (n.894-3C>A)
c.234-3C>A (n.234-3C>A)
c.894-17145C>A (n.894-17145C>A)
 gnomAD v4
5g.83353122C=CA1559694035XRCC4c.894-9C= (n.894-9C=)
c.894-3C= (n.894-3C=)
c.234-3C= (n.234-3C=)
c.894-17145C= (n.894-17145C=)
5g.83353122C>TCA3332302XRCC4c.894-9C>T (n.894-9C>T)
c.894-3C>T (n.894-3C>T)
c.234-3C>T (n.234-3C>T)
c.894-17145C>T (n.894-17145C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.83353123A=CA1559694037XRCC4c.894-8A= (n.894-8A=)
c.894-2A= (n.894-2A=)
c.234-2A= (n.234-2A=)
c.894-17144A= (n.894-17144A=)
5g.83353123A>CCA360357578XRCC4c.894-8A>C (n.894-8A>C)
c.894-2A>C (n.894-2A>C)
c.234-2A>C (n.234-2A>C)
c.894-17144A>C (n.894-17144A>C)
 gnomAD v4
5g.83353123A>GCA360357576XRCC4c.894-8A>G (n.894-8A>G)
c.894-2A>G (n.894-2A>G)
c.234-2A>G (n.234-2A>G)
c.894-17144A>G (n.894-17144A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.83353123A>TCA360357577XRCC4c.894-8A>T (n.894-8A>T)
c.894-2A>T (n.894-2A>T)
c.234-2A>T (n.234-2A>T)
c.894-17144A>T (n.894-17144A>T)
 dbSNP
5g.83353124G>ACA3332303XRCC4c.894-7G>A (n.894-7G>A)
c.894-1G>A (n.894-1G>A)
c.234-1G>A (n.234-1G>A)
c.894-17143G>A (n.894-17143G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.83353124G>CCA360357579XRCC4c.894-7G>C (n.894-7G>C)
c.894-1G>C (n.894-1G>C)
c.234-1G>C (n.234-1G>C)
c.894-17143G>C (n.894-17143G>C)
5g.83353124G=CA1559694042XRCC4c.894-7G= (n.894-7G=)
c.894-1G= (n.894-1G=)
c.234-1G= (n.234-1G=)
c.894-17143G= (n.894-17143G=)
5g.83353124G>TCA360357580XRCC4c.894-7G>T (n.894-7G>T)
c.894-1G>T (n.894-1G>T)
c.234-1G>T (n.234-1G>T)
c.894-17143G>T (n.894-17143G>T)
5g.83353124_83353125insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAACA1078171548XRCC4c.894-7_894-6insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA (n.894-7_894-6insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA)
c.894-1_894insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA (n.894-1_894insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA)
c.234-1_234insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA (n.234-1_234insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA)
c.894-17143_894-17142insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA (n.894-17143_894-17142insGCCTGATTCTTCACTACCTGAGACGTCGAAAAAGGAGGCCTAGAATTGAAAAGAAAATCAAAATAGTTTTATTTTCAA)
 gnomAD v3 gnomAD v4
5g.83353125T>ACA360357581XRCC4c.894-6T>A (n.894-6T>A)
c.894T>A (p.Asn298Lys)
c.234T>A (p.Asn78Lys)
c.894-17142T>A (n.894-17142T>A)
 gnomAD v4
5g.83353125T>CCA445279245XRCC4c.894-6T>C (n.894-6T>C)
c.894T>C (p.Asn298=)
c.234T>C (p.Asn78=)
c.894-17142T>C (n.894-17142T>C)
5g.83353125T>GCA360357582XRCC4c.894-6T>G (n.894-6T>G)
c.894T>G (p.Asn298Lys)
c.234T>G (p.Asn78Lys)
c.894-17142T>G (n.894-17142T>G)
5g.83353126T>ACA360357583XRCC4c.894-5T>A (n.894-5T>A)
c.895T>A (p.Ser299Thr)
c.235T>A (p.Ser79Thr)
c.894-17141T>A (n.894-17141T>A)
5g.83353126T>CCA360357584XRCC4c.894-5T>C (n.894-5T>C)
c.895T>C (p.Ser299Pro)
c.235T>C (p.Ser79Pro)
c.894-17141T>C (n.894-17141T>C)
5g.83353126T>GCA360357585XRCC4c.894-5T>G (n.894-5T>G)
c.895T>G (p.Ser299Ala)
c.235T>G (p.Ser79Ala)
c.894-17141T>G (n.894-17141T>G)
5g.83353127C>ACA360357586XRCC4c.894-4C>A (n.894-4C>A)
c.896C>A (p.Ser299Tyr)
c.236C>A (p.Ser79Tyr)
c.894-17140C>A (n.894-17140C>A)
 gnomAD v4
5g.83353127C=CA1559694047XRCC4c.894-4C= (n.894-4C=)
c.896C= (p.Ser299=)
c.236C= (p.Ser79=)
c.894-17140C= (n.894-17140C=)
5g.83353127C>GCA360357587XRCC4c.894-4C>G (n.894-4C>G)
c.896C>G (p.Ser299Cys)
c.236C>G (p.Ser79Cys)
c.894-17140C>G (n.894-17140C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.83353127C>TCA360357588XRCC4c.894-4C>T (n.894-4C>T)
c.896C>T (p.Ser299Phe)
c.236C>T (p.Ser79Phe)
c.894-17140C>T (n.894-17140C>T)
5g.83353128T>ACA445279246XRCC4c.894-3T>A (n.894-3T>A)
c.897T>A (p.Ser299=)
c.237T>A (p.Ser79=)
c.894-17139T>A (n.894-17139T>A)
5g.83353128T>CCA445279247XRCC4c.894-3T>C (n.894-3T>C)
c.897T>C (p.Ser299=)
c.237T>C (p.Ser79=)
c.894-17139T>C (n.894-17139T>C)
5g.83353128T>GCA445279248XRCC4c.894-3T>G (n.894-3T>G)
c.897T>G (p.Ser299=)
c.237T>G (p.Ser79=)
c.894-17139T>G (n.894-17139T>G)
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

Number of alleles fetched