Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.151524309_151524310delCA913089248NEB,RIF1c.1922+1_1922+2del
n.269+1_269+2del
c.5330+1_5330+2del
n.1504+1_1504+2del
c.1178+1_1178+2del
c.22479+1_22479+2del (n.22479+1_22479+2del)
c.17376+1_17376+2del (n.17376+1_17376+2del)
c.6669+1_6669+2del (n.6669+1_6669+2del)
c.347+1_347+2del
c.22584+1_22584+2del (n.22584+1_22584+2del)
c.21750+1_21750+2del (n.21750+1_21750+2del)
c.19563+1_19563+2del (n.19563+1_19563+2del)
c.20292+1_20292+2del (n.20292+1_20292+2del)
c.18105+1_18105+2del (n.18105+1_18105+2del)
n.7839-9624_7839-9623del
n.8214-9624_8214-9623del
2g.151524309_151524310delinsACCA1298163571NEB,RIF1c.1922+1_1922+2delinsGT
n.269+1_269+2delinsGT
c.5330+1_5330+2delinsGT
n.1504+1_1504+2delinsGT
c.1178+1_1178+2delinsGT
c.22479+1_22479+2delinsGT (n.22479+1_22479+2delinsGT)
c.17376+1_17376+2delinsGT (n.17376+1_17376+2delinsGT)
c.6669+1_6669+2delinsGT (n.6669+1_6669+2delinsGT)
c.347+1_347+2delinsGT
c.22584+1_22584+2delinsGT (n.22584+1_22584+2delinsGT)
c.21750+1_21750+2delinsGT (n.21750+1_21750+2delinsGT)
c.19563+1_19563+2delinsGT (n.19563+1_19563+2delinsGT)
c.20292+1_20292+2delinsGT (n.20292+1_20292+2delinsGT)
c.18105+1_18105+2delinsGT (n.18105+1_18105+2delinsGT)
n.7839-9624_7839-9623delinsAC
n.8214-9624_8214-9623delinsAC
2g.151524310C>ACA348764326NEB,RIF1c.1922+1G>T
n.269+1G>T
c.5330+1G>T
n.1504+1G>T
c.1178+1G>T
c.22479+1G>T (n.22479+1G>T)
c.17376+1G>T (n.17376+1G>T)
c.6669+1G>T (n.6669+1G>T)
c.347+1G>T
c.22584+1G>T (n.22584+1G>T)
c.21750+1G>T (n.21750+1G>T)
c.19563+1G>T (n.19563+1G>T)
c.20292+1G>T (n.20292+1G>T)
c.18105+1G>T (n.18105+1G>T)
n.7839-9623C>A
n.8214-9623C>A
2g.151524310C=CA1298163572NEB,RIF1c.1922+1G=
n.269+1G=
c.5330+1G=
n.1504+1G=
c.1178+1G=
c.22479+1G= (n.22479+1G=)
c.17376+1G= (n.17376+1G=)
c.6669+1G= (n.6669+1G=)
c.347+1G=
c.22584+1G= (n.22584+1G=)
c.21750+1G= (n.21750+1G=)
c.19563+1G= (n.19563+1G=)
c.20292+1G= (n.20292+1G=)
c.18105+1G= (n.18105+1G=)
n.7839-9623C=
n.8214-9623C=
2g.151524310C>GCA16040601NEB,RIF1c.1922+1G>C
n.269+1G>C
c.5330+1G>C
n.1504+1G>C
c.1178+1G>C
c.22479+1G>C (n.22479+1G>C)
c.17376+1G>C (n.17376+1G>C)
c.6669+1G>C (n.6669+1G>C)
c.347+1G>C
c.22584+1G>C (n.22584+1G>C)
c.21750+1G>C (n.21750+1G>C)
c.19563+1G>C (n.19563+1G>C)
c.20292+1G>C (n.20292+1G>C)
c.18105+1G>C (n.18105+1G>C)
n.7839-9623C>G
n.8214-9623C>G
 ClinVar dbSNP
2g.151524310C>TCA348764331NEB,RIF1c.1922+1G>A
n.269+1G>A
c.5330+1G>A
n.1504+1G>A
c.1178+1G>A
c.22479+1G>A (n.22479+1G>A)
c.17376+1G>A (n.17376+1G>A)
c.6669+1G>A (n.6669+1G>A)
c.347+1G>A
c.22584+1G>A (n.22584+1G>A)
c.21750+1G>A (n.21750+1G>A)
c.19563+1G>A (n.19563+1G>A)
c.20292+1G>A (n.20292+1G>A)
c.18105+1G>A (n.18105+1G>A)
n.7839-9623C>T
n.8214-9623C>T
 gnomAD v4
2g.151524311delCA658822958NEB,RIF1c.1922+1del
n.269+1del
c.5330+1del
n.1504+1del
c.1178+1del
c.22479+1del
c.17376+1del
c.6669+1del
c.347+1del
c.22584+1del
c.21750+1del
c.19563+1del
c.20292+1del
c.18105+1del
n.7839-9622del
n.8214-9622del
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.151524311C>ACA348764339NEB,RIF1c.1922G>T
n.269G>T
c.5330G>T
n.1504G>T
c.1178G>T
c.22479G>T (p.Gln7493His)
c.17376G>T (p.Gln5792His)
c.6669G>T (p.Gln2223His)
c.347G>T
c.22584G>T (p.Gln7528His)
c.21750G>T (p.Gln7250His)
c.19563G>T (p.Gln6521His)
c.20292G>T (p.Gln6764His)
c.18105G>T (p.Gln6035His)
n.7839-9622C>A
n.8214-9622C>A
2g.151524311C=CA1298163573NEB,RIF1c.1922G=
n.269G=
c.5330G=
n.1504G=
c.1178G=
c.22479G= (p.Gln7493=)
c.17376G= (p.Gln5792=)
c.6669G= (p.Gln2223=)
c.347G=
c.22584G= (p.Gln7528=)
c.21750G= (p.Gln7250=)
c.19563G= (p.Gln6521=)
c.20292G= (p.Gln6764=)
c.18105G= (p.Gln6035=)
n.7839-9622C=
n.8214-9622C=
2g.151524311C>GCA348764340NEB,RIF1c.1922G>C
n.269G>C
c.5330G>C
n.1504G>C
c.1178G>C
c.22479G>C (p.Gln7493His)
c.17376G>C (p.Gln5792His)
c.6669G>C (p.Gln2223His)
c.347G>C
c.22584G>C (p.Gln7528His)
c.21750G>C (p.Gln7250His)
c.19563G>C (p.Gln6521His)
c.20292G>C (p.Gln6764His)
c.18105G>C (p.Gln6035His)
n.7839-9622C>G
n.8214-9622C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.151524311C>TCA429450654NEB,RIF1c.1922G>A
n.269G>A
c.5330G>A
n.1504G>A
c.1178G>A
c.22479G>A (p.Gln7493=)
c.17376G>A (p.Gln5792=)
c.6669G>A (p.Gln2223=)
c.347G>A
c.22584G>A (p.Gln7528=)
c.21750G>A (p.Gln7250=)
c.19563G>A (p.Gln6521=)
c.20292G>A (p.Gln6764=)
c.18105G>A (p.Gln6035=)
n.7839-9622C>T
n.8214-9622C>T
2g.151524312T>ACA348764350NEB,RIF1c.1921A>T
n.268A>T
c.5329A>T
n.1503A>T
c.1177A>T
c.22478A>T (p.Gln7493Leu)
c.17375A>T (p.Gln5792Leu)
c.6668A>T (p.Gln2223Leu)
c.346A>T
c.22583A>T (p.Gln7528Leu)
c.21749A>T (p.Gln7250Leu)
c.19562A>T (p.Gln6521Leu)
c.20291A>T (p.Gln6764Leu)
c.18104A>T (p.Gln6035Leu)
n.7839-9621T>A
n.8214-9621T>A
 gnomAD v4
2g.151524312T>CCA348764355NEB,RIF1c.1921A>G
n.268A>G
c.5329A>G
n.1503A>G
c.1177A>G
c.22478A>G (p.Gln7493Arg)
c.17375A>G (p.Gln5792Arg)
c.6668A>G (p.Gln2223Arg)
c.346A>G
c.22583A>G (p.Gln7528Arg)
c.21749A>G (p.Gln7250Arg)
c.19562A>G (p.Gln6521Arg)
c.20291A>G (p.Gln6764Arg)
c.18104A>G (p.Gln6035Arg)
n.7839-9621T>C
n.8214-9621T>C
 gnomAD v4
2g.151524312T>GCA348764352NEB,RIF1c.1921A>C
n.268A>C
c.5329A>C
n.1503A>C
c.1177A>C
c.22478A>C (p.Gln7493Pro)
c.17375A>C (p.Gln5792Pro)
c.6668A>C (p.Gln2223Pro)
c.346A>C
c.22583A>C (p.Gln7528Pro)
c.21749A>C (p.Gln7250Pro)
c.19562A>C (p.Gln6521Pro)
c.20291A>C (p.Gln6764Pro)
c.18104A>C (p.Gln6035Pro)
n.7839-9621T>G
n.8214-9621T>G
2g.151524313G>ACA348764358NEB,RIF1c.1920C>T
n.267C>T
c.5328C>T
n.1502C>T
c.1176C>T
c.22477C>T (p.Gln7493Ter)
c.17374C>T (p.Gln5792Ter)
c.6667C>T (p.Gln2223Ter)
c.345C>T
c.22582C>T (p.Gln7528Ter)
c.21748C>T (p.Gln7250Ter)
c.19561C>T (p.Gln6521Ter)
c.20290C>T (p.Gln6764Ter)
c.18103C>T (p.Gln6035Ter)
n.7839-9620G>A
n.8214-9620G>A
 ClinVar
2g.151524313G>CCA348764361NEB,RIF1c.1920C>G
n.267C>G
c.5328C>G
n.1502C>G
c.1176C>G
c.22477C>G (p.Gln7493Glu)
c.17374C>G (p.Gln5792Glu)
c.6667C>G (p.Gln2223Glu)
c.345C>G
c.22582C>G (p.Gln7528Glu)
c.21748C>G (p.Gln7250Glu)
c.19561C>G (p.Gln6521Glu)
c.20290C>G (p.Gln6764Glu)
c.18103C>G (p.Gln6035Glu)
n.7839-9620G>C
n.8214-9620G>C
2g.151524313G>TCA348764364NEB,RIF1c.1920C>A
n.267C>A
c.5328C>A
n.1502C>A
c.1176C>A
c.22477C>A (p.Gln7493Lys)
c.17374C>A (p.Gln5792Lys)
c.6667C>A (p.Gln2223Lys)
c.345C>A
c.22582C>A (p.Gln7528Lys)
c.21748C>A (p.Gln7250Lys)
c.19561C>A (p.Gln6521Lys)
c.20290C>A (p.Gln6764Lys)
c.18103C>A (p.Gln6035Lys)
n.7839-9620G>T
n.8214-9620G>T
2g.151524314G>ACA429450655NEB,RIF1c.1919C>T
n.266C>T
c.5327C>T
n.1501C>T
c.1175C>T
c.22476C>T (p.Ser7492=)
c.17373C>T (p.Ser5791=)
c.6666C>T (p.Ser2222=)
c.344C>T
c.22581C>T (p.Ser7527=)
c.21747C>T (p.Ser7249=)
c.19560C>T (p.Ser6520=)
c.20289C>T (p.Ser6763=)
c.18102C>T (p.Ser6034=)
n.7839-9619G>A
n.8214-9619G>A
 ClinVar
2g.151524314G>CCA348764368NEB,RIF1c.1919C>G
n.266C>G
c.5327C>G
n.1501C>G
c.1175C>G
c.22476C>G (p.Ser7492Arg)
c.17373C>G (p.Ser5791Arg)
c.6666C>G (p.Ser2222Arg)
c.344C>G
c.22581C>G (p.Ser7527Arg)
c.21747C>G (p.Ser7249Arg)
c.19560C>G (p.Ser6520Arg)
c.20289C>G (p.Ser6763Arg)
c.18102C>G (p.Ser6034Arg)
n.7839-9619G>C
n.8214-9619G>C
2g.151524314G>TCA348764370NEB,RIF1c.1919C>A
n.266C>A
c.5327C>A
n.1501C>A
c.1175C>A
c.22476C>A (p.Ser7492Arg)
c.17373C>A (p.Ser5791Arg)
c.6666C>A (p.Ser2222Arg)
c.344C>A
c.22581C>A (p.Ser7527Arg)
c.21747C>A (p.Ser7249Arg)
c.19560C>A (p.Ser6520Arg)
c.20289C>A (p.Ser6763Arg)
c.18102C>A (p.Ser6034Arg)
n.7839-9619G>T
n.8214-9619G>T
2g.151524315C>ACA348764375NEB,RIF1c.1918G>T
n.265G>T
c.5326G>T
n.1500G>T
c.1174G>T
c.22475G>T (p.Ser7492Ile)
c.17372G>T (p.Ser5791Ile)
c.6665G>T (p.Ser2222Ile)
c.343G>T
c.22580G>T (p.Ser7527Ile)
c.21746G>T (p.Ser7249Ile)
c.19559G>T (p.Ser6520Ile)
c.20288G>T (p.Ser6763Ile)
c.18101G>T (p.Ser6034Ile)
n.7839-9618C>A
n.8214-9618C>A
2g.151524315C=CA1298163574NEB,RIF1c.1918G=
n.265G=
c.5326G=
n.1500G=
c.1174G=
c.22475G= (p.Ser7492=)
c.17372G= (p.Ser5791=)
c.6665G= (p.Ser2222=)
c.343G=
c.22580G= (p.Ser7527=)
c.21746G= (p.Ser7249=)
c.19559G= (p.Ser6520=)
c.20288G= (p.Ser6763=)
c.18101G= (p.Ser6034=)
n.7839-9618C=
n.8214-9618C=
2g.151524315C>GCA57624594NEB,RIF1c.1918G>C
n.265G>C
c.5326G>C
n.1500G>C
c.1174G>C
c.22475G>C (p.Ser7492Thr)
c.17372G>C (p.Ser5791Thr)
c.6665G>C (p.Ser2222Thr)
c.343G>C
c.22580G>C (p.Ser7527Thr)
c.21746G>C (p.Ser7249Thr)
c.19559G>C (p.Ser6520Thr)
c.20288G>C (p.Ser6763Thr)
c.18101G>C (p.Ser6034Thr)
n.7839-9618C>G
n.8214-9618C>G
 dbSNP
2g.151524315C>TCA348764381NEB,RIF1c.1918G>A
n.265G>A
c.5326G>A
n.1500G>A
c.1174G>A
c.22475G>A (p.Ser7492Asn)
c.17372G>A (p.Ser5791Asn)
c.6665G>A (p.Ser2222Asn)
c.343G>A
c.22580G>A (p.Ser7527Asn)
c.21746G>A (p.Ser7249Asn)
c.19559G>A (p.Ser6520Asn)
c.20288G>A (p.Ser6763Asn)
c.18101G>A (p.Ser6034Asn)
n.7839-9618C>T
n.8214-9618C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.151524316T>ACA348764385NEB,RIF1c.1917A>T
n.264A>T
c.5325A>T
n.1499A>T
c.1173A>T
c.22474A>T (p.Ser7492Cys)
c.17371A>T (p.Ser5791Cys)
c.6664A>T (p.Ser2222Cys)
c.342A>T
c.22579A>T (p.Ser7527Cys)
c.21745A>T (p.Ser7249Cys)
c.19558A>T (p.Ser6520Cys)
c.20287A>T (p.Ser6763Cys)
c.18100A>T (p.Ser6034Cys)
n.7839-9617T>A
n.8214-9617T>A
2g.151524316T>CCA348764387NEB,RIF1c.1917A>G
n.264A>G
c.5325A>G
n.1499A>G
c.1173A>G
c.22474A>G (p.Ser7492Gly)
c.17371A>G (p.Ser5791Gly)
c.6664A>G (p.Ser2222Gly)
c.342A>G
c.22579A>G (p.Ser7527Gly)
c.21745A>G (p.Ser7249Gly)
c.19558A>G (p.Ser6520Gly)
c.20287A>G (p.Ser6763Gly)
c.18100A>G (p.Ser6034Gly)
n.7839-9617T>C
n.8214-9617T>C
2g.151524316T>GCA348764390NEB,RIF1c.1917A>C
n.264A>C
c.5325A>C
n.1499A>C
c.1173A>C
c.22474A>C (p.Ser7492Arg)
c.17371A>C (p.Ser5791Arg)
c.6664A>C (p.Ser2222Arg)
c.342A>C
c.22579A>C (p.Ser7527Arg)
c.21745A>C (p.Ser7249Arg)
c.19558A>C (p.Ser6520Arg)
c.20287A>C (p.Ser6763Arg)
c.18100A>C (p.Ser6034Arg)
n.7839-9617T>G
n.8214-9617T>G
2g.151524317G>ACA1906645NEB,RIF1c.1916C>T
n.263C>T
c.5324C>T
n.1498C>T
c.1172C>T
c.22473C>T (p.Ser7491=)
c.17370C>T (p.Ser5790=)
c.6663C>T (p.Ser2221=)
c.341C>T
c.22578C>T (p.Ser7526=)
c.21744C>T (p.Ser7248=)
c.19557C>T (p.Ser6519=)
c.20286C>T (p.Ser6762=)
c.18099C>T (p.Ser6033=)
n.7839-9616G>A
n.8214-9616G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151524317G>CCA348764409NEB,RIF1c.1916C>G
n.263C>G
c.5324C>G
n.1498C>G
c.1172C>G
c.22473C>G (p.Ser7491Arg)
c.17370C>G (p.Ser5790Arg)
c.6663C>G (p.Ser2221Arg)
c.341C>G
c.22578C>G (p.Ser7526Arg)
c.21744C>G (p.Ser7248Arg)
c.19557C>G (p.Ser6519Arg)
c.20286C>G (p.Ser6762Arg)
c.18099C>G (p.Ser6033Arg)
n.7839-9616G>C
n.8214-9616G>C
2g.151524317G=CA1298163575NEB,RIF1c.1916C=
n.263C=
c.5324C=
n.1498C=
c.1172C=
c.22473C= (p.Ser7491=)
c.17370C= (p.Ser5790=)
c.6663C= (p.Ser2221=)
c.341C=
c.22578C= (p.Ser7526=)
c.21744C= (p.Ser7248=)
c.19557C= (p.Ser6519=)
c.20286C= (p.Ser6762=)
c.18099C= (p.Ser6033=)
n.7839-9616G=
n.8214-9616G=
2g.151524317G>TCA348764419NEB,RIF1c.1916C>A
n.263C>A
c.5324C>A
n.1498C>A
c.1172C>A
c.22473C>A (p.Ser7491Arg)
c.17370C>A (p.Ser5790Arg)
c.6663C>A (p.Ser2221Arg)
c.341C>A
c.22578C>A (p.Ser7526Arg)
c.21744C>A (p.Ser7248Arg)
c.19557C>A (p.Ser6519Arg)
c.20286C>A (p.Ser6762Arg)
c.18099C>A (p.Ser6033Arg)
n.7839-9616G>T
n.8214-9616G>T
2g.151524318C>ACA348764433NEB,RIF1c.1915G>T
n.262G>T
c.5323G>T
n.1497G>T
c.1171G>T
c.22472G>T (p.Ser7491Ile)
c.17369G>T (p.Ser5790Ile)
c.6662G>T (p.Ser2221Ile)
c.340G>T
c.22577G>T (p.Ser7526Ile)
c.21743G>T (p.Ser7248Ile)
c.19556G>T (p.Ser6519Ile)
c.20285G>T (p.Ser6762Ile)
c.18098G>T (p.Ser6033Ile)
n.7839-9615C>A
n.8214-9615C>A
2g.151524318C>GCA348764429NEB,RIF1c.1915G>C
n.262G>C
c.5323G>C
n.1497G>C
c.1171G>C
c.22472G>C (p.Ser7491Thr)
c.17369G>C (p.Ser5790Thr)
c.6662G>C (p.Ser2221Thr)
c.340G>C
c.22577G>C (p.Ser7526Thr)
c.21743G>C (p.Ser7248Thr)
c.19556G>C (p.Ser6519Thr)
c.20285G>C (p.Ser6762Thr)
c.18098G>C (p.Ser6033Thr)
n.7839-9615C>G
n.8214-9615C>G
2g.151524318C>TCA348764425NEB,RIF1c.1915G>A
n.262G>A
c.5323G>A
n.1497G>A
c.1171G>A
c.22472G>A (p.Ser7491Asn)
c.17369G>A (p.Ser5790Asn)
c.6662G>A (p.Ser2221Asn)
c.340G>A
c.22577G>A (p.Ser7526Asn)
c.21743G>A (p.Ser7248Asn)
c.19556G>A (p.Ser6519Asn)
c.20285G>A (p.Ser6762Asn)
c.18098G>A (p.Ser6033Asn)
n.7839-9615C>T
n.8214-9615C>T
 gnomAD v4
2g.151524319T>ACA348764439NEB,RIF1c.1914A>T
n.261A>T
c.5322A>T
n.1496A>T
c.1170A>T
c.22471A>T (p.Ser7491Cys)
c.17368A>T (p.Ser5790Cys)
c.6661A>T (p.Ser2221Cys)
c.339A>T
c.22576A>T (p.Ser7526Cys)
c.21742A>T (p.Ser7248Cys)
c.19555A>T (p.Ser6519Cys)
c.20284A>T (p.Ser6762Cys)
c.18097A>T (p.Ser6033Cys)
n.7839-9614T>A
n.8214-9614T>A
2g.151524319T>CCA57624599NEB,RIF1c.1914A>G
n.261A>G
c.5322A>G
n.1496A>G
c.1170A>G
c.22471A>G (p.Ser7491Gly)
c.17368A>G (p.Ser5790Gly)
c.6661A>G (p.Ser2221Gly)
c.339A>G
c.22576A>G (p.Ser7526Gly)
c.21742A>G (p.Ser7248Gly)
c.19555A>G (p.Ser6519Gly)
c.20284A>G (p.Ser6762Gly)
c.18097A>G (p.Ser6033Gly)
n.7839-9614T>C
n.8214-9614T>C
 dbSNP
2g.151524319T>GCA348764447NEB,RIF1c.1914A>C
n.261A>C
c.5322A>C
n.1496A>C
c.1170A>C
c.22471A>C (p.Ser7491Arg)
c.17368A>C (p.Ser5790Arg)
c.6661A>C (p.Ser2221Arg)
c.339A>C
c.22576A>C (p.Ser7526Arg)
c.21742A>C (p.Ser7248Arg)
c.19555A>C (p.Ser6519Arg)
c.20284A>C (p.Ser6762Arg)
c.18097A>C (p.Ser6033Arg)
n.7839-9614T>G
n.8214-9614T>G
2g.151524319T=CA1298163576NEB,RIF1c.1914A=
n.261A=
c.5322A=
n.1496A=
c.1170A=
c.22471A= (p.Ser7491=)
c.17368A= (p.Ser5790=)
c.6661A= (p.Ser2221=)
c.339A=
c.22576A= (p.Ser7526=)
c.21742A= (p.Ser7248=)
c.19555A= (p.Ser6519=)
c.20284A= (p.Ser6762=)
c.18097A= (p.Ser6033=)
n.7839-9614T=
n.8214-9614T=
2g.151524320C>ACA429450656NEB,RIF1c.1913G>T
n.260G>T
c.5321G>T
n.1495G>T
c.1169G>T
c.22470G>T (p.Leu7490=)
c.17367G>T (p.Leu5789=)
c.6660G>T (p.Leu2220=)
c.338G>T
c.22575G>T (p.Leu7525=)
c.21741G>T (p.Leu7247=)
c.19554G>T (p.Leu6518=)
c.20283G>T (p.Leu6761=)
c.18096G>T (p.Leu6032=)
n.7839-9613C>A
n.8214-9613C>A
2g.151524320C=CA1298163577NEB,RIF1c.1913G=
n.260G=
c.5321G=
n.1495G=
c.1169G=
c.22470G= (p.Leu7490=)
c.17367G= (p.Leu5789=)
c.6660G= (p.Leu2220=)
c.338G=
c.22575G= (p.Leu7525=)
c.21741G= (p.Leu7247=)
c.19554G= (p.Leu6518=)
c.20283G= (p.Leu6761=)
c.18096G= (p.Leu6032=)
n.7839-9613C=
n.8214-9613C=
2g.151524320C>GCA429450657NEB,RIF1c.1913G>C
n.260G>C
c.5321G>C
n.1495G>C
c.1169G>C
c.22470G>C (p.Leu7490=)
c.17367G>C (p.Leu5789=)
c.6660G>C (p.Leu2220=)
c.338G>C
c.22575G>C (p.Leu7525=)
c.21741G>C (p.Leu7247=)
c.19554G>C (p.Leu6518=)
c.20283G>C (p.Leu6761=)
c.18096G>C (p.Leu6032=)
n.7839-9613C>G
n.8214-9613C>G
 dbSNP gnomAD v2 gnomAD v4
2g.151524320C>TCA429450658NEB,RIF1c.1913G>A
n.260G>A
c.5321G>A
n.1495G>A
c.1169G>A
c.22470G>A (p.Leu7490=)
c.17367G>A (p.Leu5789=)
c.6660G>A (p.Leu2220=)
c.338G>A
c.22575G>A (p.Leu7525=)
c.21741G>A (p.Leu7247=)
c.19554G>A (p.Leu6518=)
c.20283G>A (p.Leu6761=)
c.18096G>A (p.Leu6032=)
n.7839-9613C>T
n.8214-9613C>T
 ClinVar dbSNP gnomAD v4
2g.151524321A>CCA348764451NEB,RIF1c.1912T>G
n.259T>G
c.5320T>G
n.1494T>G
c.1168T>G
c.22469T>G (p.Leu7490Arg)
c.17366T>G (p.Leu5789Arg)
c.6659T>G (p.Leu2220Arg)
c.337T>G
c.22574T>G (p.Leu7525Arg)
c.21740T>G (p.Leu7247Arg)
c.19553T>G (p.Leu6518Arg)
c.20282T>G (p.Leu6761Arg)
c.18095T>G (p.Leu6032Arg)
n.7839-9612A>C
n.8214-9612A>C
2g.151524321A>GCA348764455NEB,RIF1c.1912T>C
n.259T>C
c.5320T>C
n.1494T>C
c.1168T>C
c.22469T>C (p.Leu7490Pro)
c.17366T>C (p.Leu5789Pro)
c.6659T>C (p.Leu2220Pro)
c.337T>C
c.22574T>C (p.Leu7525Pro)
c.21740T>C (p.Leu7247Pro)
c.19553T>C (p.Leu6518Pro)
c.20282T>C (p.Leu6761Pro)
c.18095T>C (p.Leu6032Pro)
n.7839-9612A>G
n.8214-9612A>G
2g.151524321A>TCA348764458NEB,RIF1c.1912T>A
n.259T>A
c.5320T>A
n.1494T>A
c.1168T>A
c.22469T>A (p.Leu7490Gln)
c.17366T>A (p.Leu5789Gln)
c.6659T>A (p.Leu2220Gln)
c.337T>A
c.22574T>A (p.Leu7525Gln)
c.21740T>A (p.Leu7247Gln)
c.19553T>A (p.Leu6518Gln)
c.20282T>A (p.Leu6761Gln)
c.18095T>A (p.Leu6032Gln)
n.7839-9612A>T
n.8214-9612A>T
2g.151524322G>ACA1906646NEB,RIF1c.1911C>T
n.258C>T
c.5319C>T
n.1493C>T
c.1167C>T
c.22468C>T (p.Leu7490=)
c.17365C>T (p.Leu5789=)
c.6658C>T (p.Leu2220=)
c.336C>T
c.22573C>T (p.Leu7525=)
c.21739C>T (p.Leu7247=)
c.19552C>T (p.Leu6518=)
c.20281C>T (p.Leu6761=)
c.18094C>T (p.Leu6032=)
n.7839-9611G>A
n.8214-9611G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524322G>CCA348764464NEB,RIF1c.1911C>G
n.258C>G
c.5319C>G
n.1493C>G
c.1167C>G
c.22468C>G (p.Leu7490Val)
c.17365C>G (p.Leu5789Val)
c.6658C>G (p.Leu2220Val)
c.336C>G
c.22573C>G (p.Leu7525Val)
c.21739C>G (p.Leu7247Val)
c.19552C>G (p.Leu6518Val)
c.20281C>G (p.Leu6761Val)
c.18094C>G (p.Leu6032Val)
n.7839-9611G>C
n.8214-9611G>C
 dbSNP gnomAD v4
2g.151524322G=CA1298163578NEB,RIF1c.1911C=
n.258C=
c.5319C=
n.1493C=
c.1167C=
c.22468C= (p.Leu7490=)
c.17365C= (p.Leu5789=)
c.6658C= (p.Leu2220=)
c.336C=
c.22573C= (p.Leu7525=)
c.21739C= (p.Leu7247=)
c.19552C= (p.Leu6518=)
c.20281C= (p.Leu6761=)
c.18094C= (p.Leu6032=)
n.7839-9611G=
n.8214-9611G=
2g.151524322G>TCA348764466NEB,RIF1c.1911C>A
n.258C>A
c.5319C>A
n.1493C>A
c.1167C>A
c.22468C>A (p.Leu7490Met)
c.17365C>A (p.Leu5789Met)
c.6658C>A (p.Leu2220Met)
c.336C>A
c.22573C>A (p.Leu7525Met)
c.21739C>A (p.Leu7247Met)
c.19552C>A (p.Leu6518Met)
c.20281C>A (p.Leu6761Met)
c.18094C>A (p.Leu6032Met)
n.7839-9611G>T
n.8214-9611G>T
 COSMIC COSMIC COSMIC
2g.151524323C>ACA348764472NEB,RIF1c.1910G>T
n.257G>T
c.5318G>T
n.1492G>T
c.1166G>T
c.22467G>T (p.Lys7489Asn)
c.17364G>T (p.Lys5788Asn)
c.6657G>T (p.Lys2219Asn)
c.335G>T
c.22572G>T (p.Lys7524Asn)
c.21738G>T (p.Lys7246Asn)
c.19551G>T (p.Lys6517Asn)
c.20280G>T (p.Lys6760Asn)
c.18093G>T (p.Lys6031Asn)
n.7839-9610C>A
n.8214-9610C>A

Number of alleles fetched