Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.151524323C>GCA348764475NEB,RIF1c.1910G>C
n.257G>C
c.5318G>C
n.1492G>C
c.1166G>C
c.22467G>C (p.Lys7489Asn)
c.17364G>C (p.Lys5788Asn)
c.6657G>C (p.Lys2219Asn)
c.335G>C
c.22572G>C (p.Lys7524Asn)
c.21738G>C (p.Lys7246Asn)
c.19551G>C (p.Lys6517Asn)
c.20280G>C (p.Lys6760Asn)
c.18093G>C (p.Lys6031Asn)
n.7839-9610C>G
n.8214-9610C>G
2g.151524323C>TCA429450659NEB,RIF1c.1910G>A
n.257G>A
c.5318G>A
n.1492G>A
c.1166G>A
c.22467G>A (p.Lys7489=)
c.17364G>A (p.Lys5788=)
c.6657G>A (p.Lys2219=)
c.335G>A
c.22572G>A (p.Lys7524=)
c.21738G>A (p.Lys7246=)
c.19551G>A (p.Lys6517=)
c.20280G>A (p.Lys6760=)
c.18093G>A (p.Lys6031=)
n.7839-9610C>T
n.8214-9610C>T
 gnomAD v4
2g.151524324T>ACA348764478NEB,RIF1c.1909A>T
n.256A>T
c.5317A>T
n.1491A>T
c.1165A>T
c.22466A>T (p.Lys7489Met)
c.17363A>T (p.Lys5788Met)
c.6656A>T (p.Lys2219Met)
c.334A>T
c.22571A>T (p.Lys7524Met)
c.21737A>T (p.Lys7246Met)
c.19550A>T (p.Lys6517Met)
c.20279A>T (p.Lys6760Met)
c.18092A>T (p.Lys6031Met)
n.7839-9609T>A
n.8214-9609T>A
2g.151524324T>CCA348764482NEB,RIF1c.1909A>G
n.256A>G
c.5317A>G
n.1491A>G
c.1165A>G
c.22466A>G (p.Lys7489Arg)
c.17363A>G (p.Lys5788Arg)
c.6656A>G (p.Lys2219Arg)
c.334A>G
c.22571A>G (p.Lys7524Arg)
c.21737A>G (p.Lys7246Arg)
c.19550A>G (p.Lys6517Arg)
c.20279A>G (p.Lys6760Arg)
c.18092A>G (p.Lys6031Arg)
n.7839-9609T>C
n.8214-9609T>C
 ClinVar dbSNP
2g.151524324T>GCA348764486NEB,RIF1c.1909A>C
n.256A>C
c.5317A>C
n.1491A>C
c.1165A>C
c.22466A>C (p.Lys7489Thr)
c.17363A>C (p.Lys5788Thr)
c.6656A>C (p.Lys2219Thr)
c.334A>C
c.22571A>C (p.Lys7524Thr)
c.21737A>C (p.Lys7246Thr)
c.19550A>C (p.Lys6517Thr)
c.20279A>C (p.Lys6760Thr)
c.18092A>C (p.Lys6031Thr)
n.7839-9609T>G
n.8214-9609T>G
2g.151524324T=CA1298163579NEB,RIF1c.1909A=
n.256A=
c.5317A=
n.1491A=
c.1165A=
c.22466A= (p.Lys7489=)
c.17363A= (p.Lys5788=)
c.6656A= (p.Lys2219=)
c.334A=
c.22571A= (p.Lys7524=)
c.21737A= (p.Lys7246=)
c.19550A= (p.Lys6517=)
c.20279A= (p.Lys6760=)
c.18092A= (p.Lys6031=)
n.7839-9609T=
n.8214-9609T=
2g.151524325T>ACA348764499NEB,RIF1c.1908A>T
n.255A>T
c.5316A>T
n.1490A>T
c.1164A>T
c.22465A>T (p.Lys7489Ter)
c.17362A>T (p.Lys5788Ter)
c.6655A>T (p.Lys2219Ter)
c.333A>T
c.22570A>T (p.Lys7524Ter)
c.21736A>T (p.Lys7246Ter)
c.19549A>T (p.Lys6517Ter)
c.20278A>T (p.Lys6760Ter)
c.18091A>T (p.Lys6031Ter)
n.7839-9608T>A
n.8214-9608T>A
2g.151524325T>CCA348764495NEB,RIF1c.1908A>G
n.255A>G
c.5316A>G
n.1490A>G
c.1164A>G
c.22465A>G (p.Lys7489Glu)
c.17362A>G (p.Lys5788Glu)
c.6655A>G (p.Lys2219Glu)
c.333A>G
c.22570A>G (p.Lys7524Glu)
c.21736A>G (p.Lys7246Glu)
c.19549A>G (p.Lys6517Glu)
c.20278A>G (p.Lys6760Glu)
c.18091A>G (p.Lys6031Glu)
n.7839-9608T>C
n.8214-9608T>C
2g.151524325T>GCA348764492NEB,RIF1c.1908A>C
n.255A>C
c.5316A>C
n.1490A>C
c.1164A>C
c.22465A>C (p.Lys7489Gln)
c.17362A>C (p.Lys5788Gln)
c.6655A>C (p.Lys2219Gln)
c.333A>C
c.22570A>C (p.Lys7524Gln)
c.21736A>C (p.Lys7246Gln)
c.19549A>C (p.Lys6517Gln)
c.20278A>C (p.Lys6760Gln)
c.18091A>C (p.Lys6031Gln)
n.7839-9608T>G
n.8214-9608T>G
2g.151524326G>ACA429450660NEB,RIF1c.1907C>T
n.254C>T
c.5315C>T
n.1489C>T
c.1163C>T
c.22464C>T (p.Ala7488=)
c.17361C>T (p.Ala5787=)
c.6654C>T (p.Ala2218=)
c.332C>T
c.22569C>T (p.Ala7523=)
c.21735C>T (p.Ala7245=)
c.19548C>T (p.Ala6516=)
c.20277C>T (p.Ala6759=)
c.18090C>T (p.Ala6030=)
n.7839-9607G>A
n.8214-9607G>A
 gnomAD v4
2g.151524326G>CCA429450661NEB,RIF1c.1907C>G
n.254C>G
c.5315C>G
n.1489C>G
c.1163C>G
c.22464C>G (p.Ala7488=)
c.17361C>G (p.Ala5787=)
c.6654C>G (p.Ala2218=)
c.332C>G
c.22569C>G (p.Ala7523=)
c.21735C>G (p.Ala7245=)
c.19548C>G (p.Ala6516=)
c.20277C>G (p.Ala6759=)
c.18090C>G (p.Ala6030=)
n.7839-9607G>C
n.8214-9607G>C
 ClinVar dbSNP
2g.151524326G>TCA429450662NEB,RIF1c.1907C>A
n.254C>A
c.5315C>A
n.1489C>A
c.1163C>A
c.22464C>A (p.Ala7488=)
c.17361C>A (p.Ala5787=)
c.6654C>A (p.Ala2218=)
c.332C>A
c.22569C>A (p.Ala7523=)
c.21735C>A (p.Ala7245=)
c.19548C>A (p.Ala6516=)
c.20277C>A (p.Ala6759=)
c.18090C>A (p.Ala6030=)
n.7839-9607G>T
n.8214-9607G>T
2g.151524327dupCA2841294398NEB,RIF1c.1907dup
n.254dup
c.5315dup
n.1489dup
c.1163dup
c.22464dup (p.Lys7489GlnfsTer7)
c.17361dup (p.Lys5788GlnfsTer7)
c.6654dup (p.Lys2219GlnfsTer7)
c.332dup
c.22569dup (p.Lys7524GlnfsTer7)
c.21735dup (p.Lys7246GlnfsTer7)
c.19548dup (p.Lys6517GlnfsTer7)
c.20277dup (p.Lys6760GlnfsTer7)
c.18090dup (p.Lys6031GlnfsTer7)
n.7839-9606dup
n.8214-9606dup
2g.151524327G>ACA348764503NEB,RIF1c.1906C>T
n.253C>T
c.5314C>T
n.1488C>T
c.1162C>T
c.22463C>T (p.Ala7488Val)
c.17360C>T (p.Ala5787Val)
c.6653C>T (p.Ala2218Val)
c.331C>T
c.22568C>T (p.Ala7523Val)
c.21734C>T (p.Ala7245Val)
c.19547C>T (p.Ala6516Val)
c.20276C>T (p.Ala6759Val)
c.18089C>T (p.Ala6030Val)
n.7839-9606G>A
n.8214-9606G>A
2g.151524327G>CCA348764507NEB,RIF1c.1906C>G
n.253C>G
c.5314C>G
n.1488C>G
c.1162C>G
c.22463C>G (p.Ala7488Gly)
c.17360C>G (p.Ala5787Gly)
c.6653C>G (p.Ala2218Gly)
c.331C>G
c.22568C>G (p.Ala7523Gly)
c.21734C>G (p.Ala7245Gly)
c.19547C>G (p.Ala6516Gly)
c.20276C>G (p.Ala6759Gly)
c.18089C>G (p.Ala6030Gly)
n.7839-9606G>C
n.8214-9606G>C
2g.151524327G>TCA348764508NEB,RIF1c.1906C>A
n.253C>A
c.5314C>A
n.1488C>A
c.1162C>A
c.22463C>A (p.Ala7488Asp)
c.17360C>A (p.Ala5787Asp)
c.6653C>A (p.Ala2218Asp)
c.331C>A
c.22568C>A (p.Ala7523Asp)
c.21734C>A (p.Ala7245Asp)
c.19547C>A (p.Ala6516Asp)
c.20276C>A (p.Ala6759Asp)
c.18089C>A (p.Ala6030Asp)
n.7839-9606G>T
n.8214-9606G>T
 gnomAD v4
2g.151524328C>ACA348764515NEB,RIF1c.1905G>T
n.252G>T
c.5313G>T
n.1487G>T
c.1161G>T
c.22462G>T (p.Ala7488Ser)
c.17359G>T (p.Ala5787Ser)
c.6652G>T (p.Ala2218Ser)
c.330G>T
c.22567G>T (p.Ala7523Ser)
c.21733G>T (p.Ala7245Ser)
c.19546G>T (p.Ala6516Ser)
c.20275G>T (p.Ala6759Ser)
c.18088G>T (p.Ala6030Ser)
n.7839-9605C>A
n.8214-9605C>A
2g.151524328C>GCA348764519NEB,RIF1c.1905G>C
n.252G>C
c.5313G>C
n.1487G>C
c.1161G>C
c.22462G>C (p.Ala7488Pro)
c.17359G>C (p.Ala5787Pro)
c.6652G>C (p.Ala2218Pro)
c.330G>C
c.22567G>C (p.Ala7523Pro)
c.21733G>C (p.Ala7245Pro)
c.19546G>C (p.Ala6516Pro)
c.20275G>C (p.Ala6759Pro)
c.18088G>C (p.Ala6030Pro)
n.7839-9605C>G
n.8214-9605C>G
2g.151524328C>TCA348764523NEB,RIF1c.1905G>A
n.252G>A
c.5313G>A
n.1487G>A
c.1161G>A
c.22462G>A (p.Ala7488Thr)
c.17359G>A (p.Ala5787Thr)
c.6652G>A (p.Ala2218Thr)
c.330G>A
c.22567G>A (p.Ala7523Thr)
c.21733G>A (p.Ala7245Thr)
c.19546G>A (p.Ala6516Thr)
c.20275G>A (p.Ala6759Thr)
c.18088G>A (p.Ala6030Thr)
n.7839-9605C>T
n.8214-9605C>T
2g.151524329T>ACA429450663NEB,RIF1c.1904A>T
n.251A>T
c.5312A>T
n.1486A>T
c.1160A>T
c.22461A>T (p.Ala7487=)
c.17358A>T (p.Ala5786=)
c.6651A>T (p.Ala2217=)
c.329A>T
c.22566A>T (p.Ala7522=)
c.21732A>T (p.Ala7244=)
c.19545A>T (p.Ala6515=)
c.20274A>T (p.Ala6758=)
c.18087A>T (p.Ala6029=)
n.7839-9604T>A
n.8214-9604T>A
2g.151524329T>CCA429450665NEB,RIF1c.1904A>G
n.251A>G
c.5312A>G
n.1486A>G
c.1160A>G
c.22461A>G (p.Ala7487=)
c.17358A>G (p.Ala5786=)
c.6651A>G (p.Ala2217=)
c.329A>G
c.22566A>G (p.Ala7522=)
c.21732A>G (p.Ala7244=)
c.19545A>G (p.Ala6515=)
c.20274A>G (p.Ala6758=)
c.18087A>G (p.Ala6029=)
n.7839-9604T>C
n.8214-9604T>C
2g.151524329T>GCA429450664NEB,RIF1c.1904A>C
n.251A>C
c.5312A>C
n.1486A>C
c.1160A>C
c.22461A>C (p.Ala7487=)
c.17358A>C (p.Ala5786=)
c.6651A>C (p.Ala2217=)
c.329A>C
c.22566A>C (p.Ala7522=)
c.21732A>C (p.Ala7244=)
c.19545A>C (p.Ala6515=)
c.20274A>C (p.Ala6758=)
c.18087A>C (p.Ala6029=)
n.7839-9604T>G
n.8214-9604T>G
2g.151524330G>ACA57624616NEB,RIF1c.1903C>T
n.250C>T
c.5311C>T
n.1485C>T
c.1159C>T
c.22460C>T (p.Ala7487Val)
c.17357C>T (p.Ala5786Val)
c.6650C>T (p.Ala2217Val)
c.328C>T
c.22565C>T (p.Ala7522Val)
c.21731C>T (p.Ala7244Val)
c.19544C>T (p.Ala6515Val)
c.20273C>T (p.Ala6758Val)
c.18086C>T (p.Ala6029Val)
n.7839-9603G>A
n.8214-9603G>A
 dbSNP gnomAD v2 gnomAD v4
2g.151524330G>CCA348764529NEB,RIF1c.1903C>G
n.250C>G
c.5311C>G
n.1485C>G
c.1159C>G
c.22460C>G (p.Ala7487Gly)
c.17357C>G (p.Ala5786Gly)
c.6650C>G (p.Ala2217Gly)
c.328C>G
c.22565C>G (p.Ala7522Gly)
c.21731C>G (p.Ala7244Gly)
c.19544C>G (p.Ala6515Gly)
c.20273C>G (p.Ala6758Gly)
c.18086C>G (p.Ala6029Gly)
n.7839-9603G>C
n.8214-9603G>C
2g.151524330G=CA1298163580NEB,RIF1c.1903C=
n.250C=
c.5311C=
n.1485C=
c.1159C=
c.22460C= (p.Ala7487=)
c.17357C= (p.Ala5786=)
c.6650C= (p.Ala2217=)
c.328C=
c.22565C= (p.Ala7522=)
c.21731C= (p.Ala7244=)
c.19544C= (p.Ala6515=)
c.20273C= (p.Ala6758=)
c.18086C= (p.Ala6029=)
n.7839-9603G=
n.8214-9603G=
2g.151524330G>TCA348764533NEB,RIF1c.1903C>A
n.250C>A
c.5311C>A
n.1485C>A
c.1159C>A
c.22460C>A (p.Ala7487Glu)
c.17357C>A (p.Ala5786Glu)
c.6650C>A (p.Ala2217Glu)
c.328C>A
c.22565C>A (p.Ala7522Glu)
c.21731C>A (p.Ala7244Glu)
c.19544C>A (p.Ala6515Glu)
c.20273C>A (p.Ala6758Glu)
c.18086C>A (p.Ala6029Glu)
n.7839-9603G>T
n.8214-9603G>T
2g.151524331C>ACA348764542NEB,RIF1c.1902G>T
n.249G>T
c.5310G>T
n.1484G>T
c.1158G>T
c.22459G>T (p.Ala7487Ser)
c.17356G>T (p.Ala5786Ser)
c.6649G>T (p.Ala2217Ser)
c.327G>T
c.22564G>T (p.Ala7522Ser)
c.21730G>T (p.Ala7244Ser)
c.19543G>T (p.Ala6515Ser)
c.20272G>T (p.Ala6758Ser)
c.18085G>T (p.Ala6029Ser)
n.7839-9602C>A
n.8214-9602C>A
2g.151524331C>GCA348764545NEB,RIF1c.1902G>C
n.249G>C
c.5310G>C
n.1484G>C
c.1158G>C
c.22459G>C (p.Ala7487Pro)
c.17356G>C (p.Ala5786Pro)
c.6649G>C (p.Ala2217Pro)
c.327G>C
c.22564G>C (p.Ala7522Pro)
c.21730G>C (p.Ala7244Pro)
c.19543G>C (p.Ala6515Pro)
c.20272G>C (p.Ala6758Pro)
c.18085G>C (p.Ala6029Pro)
n.7839-9602C>G
n.8214-9602C>G
2g.151524331C>TCA348764548NEB,RIF1c.1902G>A
n.249G>A
c.5310G>A
n.1484G>A
c.1158G>A
c.22459G>A (p.Ala7487Thr)
c.17356G>A (p.Ala5786Thr)
c.6649G>A (p.Ala2217Thr)
c.327G>A
c.22564G>A (p.Ala7522Thr)
c.21730G>A (p.Ala7244Thr)
c.19543G>A (p.Ala6515Thr)
c.20272G>A (p.Ala6758Thr)
c.18085G>A (p.Ala6029Thr)
n.7839-9602C>T
n.8214-9602C>T
2g.151524332C>ACA348764553NEB,RIF1c.1901G>T
n.248G>T
c.5309G>T
n.1483G>T
c.1157G>T
c.22458G>T (p.Lys7486Asn)
c.17355G>T (p.Lys5785Asn)
c.6648G>T (p.Lys2216Asn)
c.326G>T
c.22563G>T (p.Lys7521Asn)
c.21729G>T (p.Lys7243Asn)
c.19542G>T (p.Lys6514Asn)
c.20271G>T (p.Lys6757Asn)
c.18084G>T (p.Lys6028Asn)
n.7839-9601C>A
n.8214-9601C>A
2g.151524332C=CA1298163581NEB,RIF1c.1901G=
n.248G=
c.5309G=
n.1483G=
c.1157G=
c.22458G= (p.Lys7486=)
c.17355G= (p.Lys5785=)
c.6648G= (p.Lys2216=)
c.326G=
c.22563G= (p.Lys7521=)
c.21729G= (p.Lys7243=)
c.19542G= (p.Lys6514=)
c.20271G= (p.Lys6757=)
c.18084G= (p.Lys6028=)
n.7839-9601C=
n.8214-9601C=
2g.151524332C>GCA348764558NEB,RIF1c.1901G>C
n.248G>C
c.5309G>C
n.1483G>C
c.1157G>C
c.22458G>C (p.Lys7486Asn)
c.17355G>C (p.Lys5785Asn)
c.6648G>C (p.Lys2216Asn)
c.326G>C
c.22563G>C (p.Lys7521Asn)
c.21729G>C (p.Lys7243Asn)
c.19542G>C (p.Lys6514Asn)
c.20271G>C (p.Lys6757Asn)
c.18084G>C (p.Lys6028Asn)
n.7839-9601C>G
n.8214-9601C>G
 gnomAD v4
2g.151524332C>TCA429450666NEB,RIF1c.1901G>A
n.248G>A
c.5309G>A
n.1483G>A
c.1157G>A
c.22458G>A (p.Lys7486=)
c.17355G>A (p.Lys5785=)
c.6648G>A (p.Lys2216=)
c.326G>A
c.22563G>A (p.Lys7521=)
c.21729G>A (p.Lys7243=)
c.19542G>A (p.Lys6514=)
c.20271G>A (p.Lys6757=)
c.18084G>A (p.Lys6028=)
n.7839-9601C>T
n.8214-9601C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.151524333T>ACA348764571NEB,RIF1c.1900A>T
n.247A>T
c.5308A>T
n.1482A>T
c.1156A>T
c.22457A>T (p.Lys7486Met)
c.17354A>T (p.Lys5785Met)
c.6647A>T (p.Lys2216Met)
c.325A>T
c.22562A>T (p.Lys7521Met)
c.21728A>T (p.Lys7243Met)
c.19541A>T (p.Lys6514Met)
c.20270A>T (p.Lys6757Met)
c.18083A>T (p.Lys6028Met)
n.7839-9600T>A
n.8214-9600T>A
2g.151524333T>CCA348764564NEB,RIF1c.1900A>G
n.247A>G
c.5308A>G
n.1482A>G
c.1156A>G
c.22457A>G (p.Lys7486Arg)
c.17354A>G (p.Lys5785Arg)
c.6647A>G (p.Lys2216Arg)
c.325A>G
c.22562A>G (p.Lys7521Arg)
c.21728A>G (p.Lys7243Arg)
c.19541A>G (p.Lys6514Arg)
c.20270A>G (p.Lys6757Arg)
c.18083A>G (p.Lys6028Arg)
n.7839-9600T>C
n.8214-9600T>C
2g.151524333T>GCA348764568NEB,RIF1c.1900A>C
n.247A>C
c.5308A>C
n.1482A>C
c.1156A>C
c.22457A>C (p.Lys7486Thr)
c.17354A>C (p.Lys5785Thr)
c.6647A>C (p.Lys2216Thr)
c.325A>C
c.22562A>C (p.Lys7521Thr)
c.21728A>C (p.Lys7243Thr)
c.19541A>C (p.Lys6514Thr)
c.20270A>C (p.Lys6757Thr)
c.18083A>C (p.Lys6028Thr)
n.7839-9600T>G
n.8214-9600T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.151524333T=CA1298163582NEB,RIF1c.1900A=
n.247A=
c.5308A=
n.1482A=
c.1156A=
c.22457A= (p.Lys7486=)
c.17354A= (p.Lys5785=)
c.6647A= (p.Lys2216=)
c.325A=
c.22562A= (p.Lys7521=)
c.21728A= (p.Lys7243=)
c.19541A= (p.Lys6514=)
c.20270A= (p.Lys6757=)
c.18083A= (p.Lys6028=)
n.7839-9600T=
n.8214-9600T=
2g.151524333_151524334delinsGCCA2580063941NEB,RIF1c.1899_1900delinsGC
n.246_247delinsGC
c.5307_5308delinsGC
n.1481_1482delinsGC
c.1155_1156delinsGC
c.22456_22457delinsGC (p.Lys7486Ala)
c.17353_17354delinsGC (p.Lys5785Ala)
c.6646_6647delinsGC (p.Lys2216Ala)
c.324_325delinsGC
c.22561_22562delinsGC (p.Lys7521Ala)
c.21727_21728delinsGC (p.Lys7243Ala)
c.19540_19541delinsGC (p.Lys6514Ala)
c.20269_20270delinsGC (p.Lys6757Ala)
c.18082_18083delinsGC (p.Lys6028Ala)
n.7839-9600_7839-9599delinsGC
n.8214-9600_8214-9599delinsGC
 ClinVar
2g.151524334T>ACA348764579NEB,RIF1c.1899A>T
n.246A>T
c.5307A>T
n.1481A>T
c.1155A>T
c.22456A>T (p.Lys7486Ter)
c.17353A>T (p.Lys5785Ter)
c.6646A>T (p.Lys2216Ter)
c.324A>T
c.22561A>T (p.Lys7521Ter)
c.21727A>T (p.Lys7243Ter)
c.19540A>T (p.Lys6514Ter)
c.20269A>T (p.Lys6757Ter)
c.18082A>T (p.Lys6028Ter)
n.7839-9599T>A
n.8214-9599T>A
2g.151524334T>CCA348764584NEB,RIF1c.1899A>G
n.246A>G
c.5307A>G
n.1481A>G
c.1155A>G
c.22456A>G (p.Lys7486Glu)
c.17353A>G (p.Lys5785Glu)
c.6646A>G (p.Lys2216Glu)
c.324A>G
c.22561A>G (p.Lys7521Glu)
c.21727A>G (p.Lys7243Glu)
c.19540A>G (p.Lys6514Glu)
c.20269A>G (p.Lys6757Glu)
c.18082A>G (p.Lys6028Glu)
n.7839-9599T>C
n.8214-9599T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.151524334T>GCA348764587NEB,RIF1c.1899A>C
n.246A>C
c.5307A>C
n.1481A>C
c.1155A>C
c.22456A>C (p.Lys7486Gln)
c.17353A>C (p.Lys5785Gln)
c.6646A>C (p.Lys2216Gln)
c.324A>C
c.22561A>C (p.Lys7521Gln)
c.21727A>C (p.Lys7243Gln)
c.19540A>C (p.Lys6514Gln)
c.20269A>C (p.Lys6757Gln)
c.18082A>C (p.Lys6028Gln)
n.7839-9599T>G
n.8214-9599T>G
2g.151524334T=CA1298163583NEB,RIF1c.1899A=
n.246A=
c.5307A=
n.1481A=
c.1155A=
c.22456A= (p.Lys7486=)
c.17353A= (p.Lys5785=)
c.6646A= (p.Lys2216=)
c.324A=
c.22561A= (p.Lys7521=)
c.21727A= (p.Lys7243=)
c.19540A= (p.Lys6514=)
c.20269A= (p.Lys6757=)
c.18082A= (p.Lys6028=)
n.7839-9599T=
n.8214-9599T=
2g.151524335C>ACA348764591NEB,RIF1c.1898G>T
n.245G>T
c.5306G>T
n.1480G>T
c.1154G>T
c.22455G>T (p.Lys7485Asn)
c.17352G>T (p.Lys5784Asn)
c.6645G>T (p.Lys2215Asn)
c.323G>T
c.22560G>T (p.Lys7520Asn)
c.21726G>T (p.Lys7242Asn)
c.19539G>T (p.Lys6513Asn)
c.20268G>T (p.Lys6756Asn)
c.18081G>T (p.Lys6027Asn)
n.7839-9598C>A
n.8214-9598C>A
2g.151524335C>GCA348764593NEB,RIF1c.1898G>C
n.245G>C
c.5306G>C
n.1480G>C
c.1154G>C
c.22455G>C (p.Lys7485Asn)
c.17352G>C (p.Lys5784Asn)
c.6645G>C (p.Lys2215Asn)
c.323G>C
c.22560G>C (p.Lys7520Asn)
c.21726G>C (p.Lys7242Asn)
c.19539G>C (p.Lys6513Asn)
c.20268G>C (p.Lys6756Asn)
c.18081G>C (p.Lys6027Asn)
n.7839-9598C>G
n.8214-9598C>G
2g.151524335C>TCA429450667NEB,RIF1c.1898G>A
n.245G>A
c.5306G>A
n.1480G>A
c.1154G>A
c.22455G>A (p.Lys7485=)
c.17352G>A (p.Lys5784=)
c.6645G>A (p.Lys2215=)
c.323G>A
c.22560G>A (p.Lys7520=)
c.21726G>A (p.Lys7242=)
c.19539G>A (p.Lys6513=)
c.20268G>A (p.Lys6756=)
c.18081G>A (p.Lys6027=)
n.7839-9598C>T
n.8214-9598C>T
2g.151524336T>ACA348764596NEB,RIF1c.1897A>T
n.244A>T
c.5305A>T
n.1479A>T
c.1153A>T
c.22454A>T (p.Lys7485Met)
c.17351A>T (p.Lys5784Met)
c.6644A>T (p.Lys2215Met)
c.322A>T
c.22559A>T (p.Lys7520Met)
c.21725A>T (p.Lys7242Met)
c.19538A>T (p.Lys6513Met)
c.20267A>T (p.Lys6756Met)
c.18080A>T (p.Lys6027Met)
n.7839-9597T>A
n.8214-9597T>A
2g.151524336T>CCA348764602NEB,RIF1c.1897A>G
n.244A>G
c.5305A>G
n.1479A>G
c.1153A>G
c.22454A>G (p.Lys7485Arg)
c.17351A>G (p.Lys5784Arg)
c.6644A>G (p.Lys2215Arg)
c.322A>G
c.22559A>G (p.Lys7520Arg)
c.21725A>G (p.Lys7242Arg)
c.19538A>G (p.Lys6513Arg)
c.20267A>G (p.Lys6756Arg)
c.18080A>G (p.Lys6027Arg)
n.7839-9597T>C
n.8214-9597T>C
2g.151524336T>GCA348764606NEB,RIF1c.1897A>C
n.244A>C
c.5305A>C
n.1479A>C
c.1153A>C
c.22454A>C (p.Lys7485Thr)
c.17351A>C (p.Lys5784Thr)
c.6644A>C (p.Lys2215Thr)
c.322A>C
c.22559A>C (p.Lys7520Thr)
c.21725A>C (p.Lys7242Thr)
c.19538A>C (p.Lys6513Thr)
c.20267A>C (p.Lys6756Thr)
c.18080A>C (p.Lys6027Thr)
n.7839-9597T>G
n.8214-9597T>G
2g.151524337T>ACA348764612NEB,RIF1c.1896A>T
n.243A>T
c.5304A>T
n.1478A>T
c.1152A>T
c.22453A>T (p.Lys7485Ter)
c.17350A>T (p.Lys5784Ter)
c.6643A>T (p.Lys2215Ter)
c.321A>T
c.22558A>T (p.Lys7520Ter)
c.21724A>T (p.Lys7242Ter)
c.19537A>T (p.Lys6513Ter)
c.20266A>T (p.Lys6756Ter)
c.18079A>T (p.Lys6027Ter)
n.7839-9596T>A
n.8214-9596T>A
2g.151524337T>CCA348764615NEB,RIF1c.1896A>G
n.243A>G
c.5304A>G
n.1478A>G
c.1152A>G
c.22453A>G (p.Lys7485Glu)
c.17350A>G (p.Lys5784Glu)
c.6643A>G (p.Lys2215Glu)
c.321A>G
c.22558A>G (p.Lys7520Glu)
c.21724A>G (p.Lys7242Glu)
c.19537A>G (p.Lys6513Glu)
c.20266A>G (p.Lys6756Glu)
c.18079A>G (p.Lys6027Glu)
n.7839-9596T>C
n.8214-9596T>C
2g.151524337T>GCA348764619NEB,RIF1c.1896A>C
n.243A>C
c.5304A>C
n.1478A>C
c.1152A>C
c.22453A>C (p.Lys7485Gln)
c.17350A>C (p.Lys5784Gln)
c.6643A>C (p.Lys2215Gln)
c.321A>C
c.22558A>C (p.Lys7520Gln)
c.21724A>C (p.Lys7242Gln)
c.19537A>C (p.Lys6513Gln)
c.20266A>C (p.Lys6756Gln)
c.18079A>C (p.Lys6027Gln)
n.7839-9596T>G
n.8214-9596T>G
2g.151524338G>ACA429450668NEB,RIF1c.1895C>T
n.242C>T
c.5303C>T
n.1477C>T
c.1151C>T
c.22452C>T (p.Ala7484=)
c.17349C>T (p.Ala5783=)
c.6642C>T (p.Ala2214=)
c.320C>T
c.22557C>T (p.Ala7519=)
c.21723C>T (p.Ala7241=)
c.19536C>T (p.Ala6512=)
c.20265C>T (p.Ala6755=)
c.18078C>T (p.Ala6026=)
n.7839-9595G>A
n.8214-9595G>A
2g.151524338G>CCA1906647NEB,RIF1c.1895C>G
n.242C>G
c.5303C>G
n.1477C>G
c.1151C>G
c.22452C>G (p.Ala7484=)
c.17349C>G (p.Ala5783=)
c.6642C>G (p.Ala2214=)
c.320C>G
c.22557C>G (p.Ala7519=)
c.21723C>G (p.Ala7241=)
c.19536C>G (p.Ala6512=)
c.20265C>G (p.Ala6755=)
c.18078C>G (p.Ala6026=)
n.7839-9595G>C
n.8214-9595G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524338G=CA1298163584NEB,RIF1c.1895C=
n.242C=
c.5303C=
n.1477C=
c.1151C=
c.22452C= (p.Ala7484=)
c.17349C= (p.Ala5783=)
c.6642C= (p.Ala2214=)
c.320C=
c.22557C= (p.Ala7519=)
c.21723C= (p.Ala7241=)
c.19536C= (p.Ala6512=)
c.20265C= (p.Ala6755=)
c.18078C= (p.Ala6026=)
n.7839-9595G=
n.8214-9595G=
2g.151524338G>TCA429450669NEB,RIF1c.1895C>A
n.242C>A
c.5303C>A
n.1477C>A
c.1151C>A
c.22452C>A (p.Ala7484=)
c.17349C>A (p.Ala5783=)
c.6642C>A (p.Ala2214=)
c.320C>A
c.22557C>A (p.Ala7519=)
c.21723C>A (p.Ala7241=)
c.19536C>A (p.Ala6512=)
c.20265C>A (p.Ala6755=)
c.18078C>A (p.Ala6026=)
n.7839-9595G>T
n.8214-9595G>T
 ClinVar dbSNP
2g.151524339delCA2841294400NEB,RIF1c.1895del
n.242del
c.5303del
n.1477del
c.1151del
c.22452del (p.Lys7485ArgfsTer6)
c.17349del (p.Lys5784ArgfsTer6)
c.6642del (p.Lys2215ArgfsTer6)
c.320del
c.22557del (p.Lys7520ArgfsTer6)
c.21723del (p.Lys7242ArgfsTer6)
c.19536del (p.Lys6513ArgfsTer6)
c.20265del (p.Lys6756ArgfsTer6)
c.18078del (p.Lys6027ArgfsTer6)
n.7839-9594del
n.8214-9594del
2g.151524339G>ACA348764634NEB,RIF1c.1894C>T
n.241C>T
c.5302C>T
n.1476C>T
c.1150C>T
c.22451C>T (p.Ala7484Val)
c.17348C>T (p.Ala5783Val)
c.6641C>T (p.Ala2214Val)
c.319C>T
c.22556C>T (p.Ala7519Val)
c.21722C>T (p.Ala7241Val)
c.19535C>T (p.Ala6512Val)
c.20264C>T (p.Ala6755Val)
c.18077C>T (p.Ala6026Val)
n.7839-9594G>A
n.8214-9594G>A
 COSMIC COSMIC COSMIC
2g.151524339G>CCA348764627NEB,RIF1c.1894C>G
n.241C>G
c.5302C>G
n.1476C>G
c.1150C>G
c.22451C>G (p.Ala7484Gly)
c.17348C>G (p.Ala5783Gly)
c.6641C>G (p.Ala2214Gly)
c.319C>G
c.22556C>G (p.Ala7519Gly)
c.21722C>G (p.Ala7241Gly)
c.19535C>G (p.Ala6512Gly)
c.20264C>G (p.Ala6755Gly)
c.18077C>G (p.Ala6026Gly)
n.7839-9594G>C
n.8214-9594G>C
2g.151524339G>TCA348764631NEB,RIF1c.1894C>A
n.241C>A
c.5302C>A
n.1476C>A
c.1150C>A
c.22451C>A (p.Ala7484Asp)
c.17348C>A (p.Ala5783Asp)
c.6641C>A (p.Ala2214Asp)
c.319C>A
c.22556C>A (p.Ala7519Asp)
c.21722C>A (p.Ala7241Asp)
c.19535C>A (p.Ala6512Asp)
c.20264C>A (p.Ala6755Asp)
c.18077C>A (p.Ala6026Asp)
n.7839-9594G>T
n.8214-9594G>T
2g.151524340C>ACA348764640NEB,RIF1c.1893G>T
n.240G>T
c.5301G>T
n.1475G>T
c.1149G>T
c.22450G>T (p.Ala7484Ser)
c.17347G>T (p.Ala5783Ser)
c.6640G>T (p.Ala2214Ser)
c.318G>T
c.22555G>T (p.Ala7519Ser)
c.21721G>T (p.Ala7241Ser)
c.19534G>T (p.Ala6512Ser)
c.20263G>T (p.Ala6755Ser)
c.18076G>T (p.Ala6026Ser)
n.7839-9593C>A
n.8214-9593C>A
2g.151524340C=CA1298163585NEB,RIF1c.1893G=
n.240G=
c.5301G=
n.1475G=
c.1149G=
c.22450G= (p.Ala7484=)
c.17347G= (p.Ala5783=)
c.6640G= (p.Ala2214=)
c.318G=
c.22555G= (p.Ala7519=)
c.21721G= (p.Ala7241=)
c.19534G= (p.Ala6512=)
c.20263G= (p.Ala6755=)
c.18076G= (p.Ala6026=)
n.7839-9593C=
n.8214-9593C=
2g.151524340C>GCA348764648NEB,RIF1c.1893G>C
n.240G>C
c.5301G>C
n.1475G>C
c.1149G>C
c.22450G>C (p.Ala7484Pro)
c.17347G>C (p.Ala5783Pro)
c.6640G>C (p.Ala2214Pro)
c.318G>C
c.22555G>C (p.Ala7519Pro)
c.21721G>C (p.Ala7241Pro)
c.19534G>C (p.Ala6512Pro)
c.20263G>C (p.Ala6755Pro)
c.18076G>C (p.Ala6026Pro)
n.7839-9593C>G
n.8214-9593C>G
2g.151524340C>TCA1906648NEB,RIF1c.1893G>A
n.240G>A
c.5301G>A
n.1475G>A
c.1149G>A
c.22450G>A (p.Ala7484Thr)
c.17347G>A (p.Ala5783Thr)
c.6640G>A (p.Ala2214Thr)
c.318G>A
c.22555G>A (p.Ala7519Thr)
c.21721G>A (p.Ala7241Thr)
c.19534G>A (p.Ala6512Thr)
c.20263G>A (p.Ala6755Thr)
c.18076G>A (p.Ala6026Thr)
n.7839-9593C>T
n.8214-9593C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524341C>ACA348764653NEB,RIF1c.1892G>T
n.239G>T
c.5300G>T
n.1474G>T
c.1148G>T
c.22449G>T (p.Met7483Ile)
c.17346G>T (p.Met5782Ile)
c.6639G>T (p.Met2213Ile)
c.317G>T
c.22554G>T (p.Met7518Ile)
c.21720G>T (p.Met7240Ile)
c.19533G>T (p.Met6511Ile)
c.20262G>T (p.Met6754Ile)
c.18075G>T (p.Met6025Ile)
n.7839-9592C>A
n.8214-9592C>A
2g.151524341C>GCA348764656NEB,RIF1c.1892G>C
n.239G>C
c.5300G>C
n.1474G>C
c.1148G>C
c.22449G>C (p.Met7483Ile)
c.17346G>C (p.Met5782Ile)
c.6639G>C (p.Met2213Ile)
c.317G>C
c.22554G>C (p.Met7518Ile)
c.21720G>C (p.Met7240Ile)
c.19533G>C (p.Met6511Ile)
c.20262G>C (p.Met6754Ile)
c.18075G>C (p.Met6025Ile)
n.7839-9592C>G
n.8214-9592C>G
2g.151524341C>TCA348764658NEB,RIF1c.1892G>A
n.239G>A
c.5300G>A
n.1474G>A
c.1148G>A
c.22449G>A (p.Met7483Ile)
c.17346G>A (p.Met5782Ile)
c.6639G>A (p.Met2213Ile)
c.317G>A
c.22554G>A (p.Met7518Ile)
c.21720G>A (p.Met7240Ile)
c.19533G>A (p.Met6511Ile)
c.20262G>A (p.Met6754Ile)
c.18075G>A (p.Met6025Ile)
n.7839-9592C>T
n.8214-9592C>T
 gnomAD v4
2g.151524342A>CCA348764663NEB,RIF1c.1891T>G
n.238T>G
c.5299T>G
n.1473T>G
c.1147T>G
c.22448T>G (p.Met7483Arg)
c.17345T>G (p.Met5782Arg)
c.6638T>G (p.Met2213Arg)
c.316T>G
c.22553T>G (p.Met7518Arg)
c.21719T>G (p.Met7240Arg)
c.19532T>G (p.Met6511Arg)
c.20261T>G (p.Met6754Arg)
c.18074T>G (p.Met6025Arg)
n.7839-9591A>C
n.8214-9591A>C
2g.151524342A>GCA348764666NEB,RIF1c.1891T>C
n.238T>C
c.5299T>C
n.1473T>C
c.1147T>C
c.22448T>C (p.Met7483Thr)
c.17345T>C (p.Met5782Thr)
c.6638T>C (p.Met2213Thr)
c.316T>C
c.22553T>C (p.Met7518Thr)
c.21719T>C (p.Met7240Thr)
c.19532T>C (p.Met6511Thr)
c.20261T>C (p.Met6754Thr)
c.18074T>C (p.Met6025Thr)
n.7839-9591A>G
n.8214-9591A>G
2g.151524342A>TCA348764670NEB,RIF1c.1891T>A
n.238T>A
c.5299T>A
n.1473T>A
c.1147T>A
c.22448T>A (p.Met7483Lys)
c.17345T>A (p.Met5782Lys)
c.6638T>A (p.Met2213Lys)
c.316T>A
c.22553T>A (p.Met7518Lys)
c.21719T>A (p.Met7240Lys)
c.19532T>A (p.Met6511Lys)
c.20261T>A (p.Met6754Lys)
c.18074T>A (p.Met6025Lys)
n.7839-9591A>T
n.8214-9591A>T
2g.151524343T>ACA348764677NEB,RIF1c.1890A>T
n.237A>T
c.5298A>T
n.1472A>T
c.1146A>T
c.22447A>T (p.Met7483Leu)
c.17344A>T (p.Met5782Leu)
c.6637A>T (p.Met2213Leu)
c.315A>T
c.22552A>T (p.Met7518Leu)
c.21718A>T (p.Met7240Leu)
c.19531A>T (p.Met6511Leu)
c.20260A>T (p.Met6754Leu)
c.18073A>T (p.Met6025Leu)
n.7839-9590T>A
n.8214-9590T>A
 ClinVar
2g.151524343T>CCA348764679NEB,RIF1c.1890A>G
n.237A>G
c.5298A>G
n.1472A>G
c.1146A>G
c.22447A>G (p.Met7483Val)
c.17344A>G (p.Met5782Val)
c.6637A>G (p.Met2213Val)
c.315A>G
c.22552A>G (p.Met7518Val)
c.21718A>G (p.Met7240Val)
c.19531A>G (p.Met6511Val)
c.20260A>G (p.Met6754Val)
c.18073A>G (p.Met6025Val)
n.7839-9590T>C
n.8214-9590T>C
2g.151524343T>GCA348764682NEB,RIF1c.1890A>C
n.237A>C
c.5298A>C
n.1472A>C
c.1146A>C
c.22447A>C (p.Met7483Leu)
c.17344A>C (p.Met5782Leu)
c.6637A>C (p.Met2213Leu)
c.315A>C
c.22552A>C (p.Met7518Leu)
c.21718A>C (p.Met7240Leu)
c.19531A>C (p.Met6511Leu)
c.20260A>C (p.Met6754Leu)
c.18073A>C (p.Met6025Leu)
n.7839-9590T>G
n.8214-9590T>G
2g.151524344T>ACA348764687NEB,RIF1c.1889A>T
n.236A>T
c.5297A>T
n.1471A>T
c.1145A>T
c.22446A>T (p.Glu7482Asp)
c.17343A>T (p.Glu5781Asp)
c.6636A>T (p.Glu2212Asp)
c.314A>T
c.22551A>T (p.Glu7517Asp)
c.21717A>T (p.Glu7239Asp)
c.19530A>T (p.Glu6510Asp)
c.20259A>T (p.Glu6753Asp)
c.18072A>T (p.Glu6024Asp)
n.7839-9589T>A
n.8214-9589T>A
2g.151524344T>CCA429450670NEB,RIF1c.1889A>G
n.236A>G
c.5297A>G
n.1471A>G
c.1145A>G
c.22446A>G (p.Glu7482=)
c.17343A>G (p.Glu5781=)
c.6636A>G (p.Glu2212=)
c.314A>G
c.22551A>G (p.Glu7517=)
c.21717A>G (p.Glu7239=)
c.19530A>G (p.Glu6510=)
c.20259A>G (p.Glu6753=)
c.18072A>G (p.Glu6024=)
n.7839-9589T>C
n.8214-9589T>C
2g.151524344T>GCA348764691NEB,RIF1c.1889A>C
n.236A>C
c.5297A>C
n.1471A>C
c.1145A>C
c.22446A>C (p.Glu7482Asp)
c.17343A>C (p.Glu5781Asp)
c.6636A>C (p.Glu2212Asp)
c.314A>C
c.22551A>C (p.Glu7517Asp)
c.21717A>C (p.Glu7239Asp)
c.19530A>C (p.Glu6510Asp)
c.20259A>C (p.Glu6753Asp)
c.18072A>C (p.Glu6024Asp)
n.7839-9589T>G
n.8214-9589T>G
2g.151524345T>ACA348764704NEB,RIF1c.1888A>T
n.235A>T
c.5296A>T
n.1470A>T
c.1144A>T
c.22445A>T (p.Glu7482Val)
c.17342A>T (p.Glu5781Val)
c.6635A>T (p.Glu2212Val)
c.313A>T
c.22550A>T (p.Glu7517Val)
c.21716A>T (p.Glu7239Val)
c.19529A>T (p.Glu6510Val)
c.20258A>T (p.Glu6753Val)
c.18071A>T (p.Glu6024Val)
n.7839-9588T>A
n.8214-9588T>A
2g.151524345T>CCA348764701NEB,RIF1c.1888A>G
n.235A>G
c.5296A>G
n.1470A>G
c.1144A>G
c.22445A>G (p.Glu7482Gly)
c.17342A>G (p.Glu5781Gly)
c.6635A>G (p.Glu2212Gly)
c.313A>G
c.22550A>G (p.Glu7517Gly)
c.21716A>G (p.Glu7239Gly)
c.19529A>G (p.Glu6510Gly)
c.20258A>G (p.Glu6753Gly)
c.18071A>G (p.Glu6024Gly)
n.7839-9588T>C
n.8214-9588T>C
2g.151524345T>GCA348764695NEB,RIF1c.1888A>C
n.235A>C
c.5296A>C
n.1470A>C
c.1144A>C
c.22445A>C (p.Glu7482Ala)
c.17342A>C (p.Glu5781Ala)
c.6635A>C (p.Glu2212Ala)
c.313A>C
c.22550A>C (p.Glu7517Ala)
c.21716A>C (p.Glu7239Ala)
c.19529A>C (p.Glu6510Ala)
c.20258A>C (p.Glu6753Ala)
c.18071A>C (p.Glu6024Ala)
n.7839-9588T>G
n.8214-9588T>G
2g.151524346C>ACA348764712NEB,RIF1c.1887G>T
n.234G>T
c.5295G>T
n.1469G>T
c.1143G>T
c.22444G>T (p.Glu7482Ter)
c.17341G>T (p.Glu5781Ter)
c.6634G>T (p.Glu2212Ter)
c.312G>T
c.22549G>T (p.Glu7517Ter)
c.21715G>T (p.Glu7239Ter)
c.19528G>T (p.Glu6510Ter)
c.20257G>T (p.Glu6753Ter)
c.18070G>T (p.Glu6024Ter)
n.7839-9587C>A
n.8214-9587C>A
2g.151524346C>GCA348764716NEB,RIF1c.1887G>C
n.234G>C
c.5295G>C
n.1469G>C
c.1143G>C
c.22444G>C (p.Glu7482Gln)
c.17341G>C (p.Glu5781Gln)
c.6634G>C (p.Glu2212Gln)
c.312G>C
c.22549G>C (p.Glu7517Gln)
c.21715G>C (p.Glu7239Gln)
c.19528G>C (p.Glu6510Gln)
c.20257G>C (p.Glu6753Gln)
c.18070G>C (p.Glu6024Gln)
n.7839-9587C>G
n.8214-9587C>G
2g.151524346C>TCA348764719NEB,RIF1c.1887G>A
n.234G>A
c.5295G>A
n.1469G>A
c.1143G>A
c.22444G>A (p.Glu7482Lys)
c.17341G>A (p.Glu5781Lys)
c.6634G>A (p.Glu2212Lys)
c.312G>A
c.22549G>A (p.Glu7517Lys)
c.21715G>A (p.Glu7239Lys)
c.19528G>A (p.Glu6510Lys)
c.20257G>A (p.Glu6753Lys)
c.18070G>A (p.Glu6024Lys)
n.7839-9587C>T
n.8214-9587C>T
 gnomAD v4
2g.151524347T>ACA429450671NEB,RIF1c.1886A>T
n.233A>T
c.5294A>T
n.1468A>T
c.1142A>T
c.22443A>T (p.Ile7481=)
c.17340A>T (p.Ile5780=)
c.6633A>T (p.Ile2211=)
c.311A>T
c.22548A>T (p.Ile7516=)
c.21714A>T (p.Ile7238=)
c.19527A>T (p.Ile6509=)
c.20256A>T (p.Ile6752=)
c.18069A>T (p.Ile6023=)
n.7839-9586T>A
n.8214-9586T>A
2g.151524347T>CCA348764722NEB,RIF1c.1886A>G
n.233A>G
c.5294A>G
n.1468A>G
c.1142A>G
c.22443A>G (p.Ile7481Met)
c.17340A>G (p.Ile5780Met)
c.6633A>G (p.Ile2211Met)
c.311A>G
c.22548A>G (p.Ile7516Met)
c.21714A>G (p.Ile7238Met)
c.19527A>G (p.Ile6509Met)
c.20256A>G (p.Ile6752Met)
c.18069A>G (p.Ile6023Met)
n.7839-9586T>C
n.8214-9586T>C
2g.151524347T>GCA429450672NEB,RIF1c.1886A>C
n.233A>C
c.5294A>C
n.1468A>C
c.1142A>C
c.22443A>C (p.Ile7481=)
c.17340A>C (p.Ile5780=)
c.6633A>C (p.Ile2211=)
c.311A>C
c.22548A>C (p.Ile7516=)
c.21714A>C (p.Ile7238=)
c.19527A>C (p.Ile6509=)
c.20256A>C (p.Ile6752=)
c.18069A>C (p.Ile6023=)
n.7839-9586T>G
n.8214-9586T>G
2g.151524348delCA2841294401NEB,RIF1c.1885del
n.232del
c.5293del
n.1467del
c.1141del
c.22442del (p.Ile7481LysfsTer10)
c.17339del (p.Ile5780LysfsTer10)
c.6632del (p.Ile2211LysfsTer10)
c.310del
c.22547del (p.Ile7516LysfsTer10)
c.21713del (p.Ile7238LysfsTer10)
c.19526del (p.Ile6509LysfsTer10)
c.20255del (p.Ile6752LysfsTer10)
c.18068del (p.Ile6023LysfsTer10)
n.7839-9585del
n.8214-9585del
2g.151524348A>CCA348764726NEB,RIF1c.1885T>G
n.232T>G
c.5293T>G
n.1467T>G
c.1141T>G
c.22442T>G (p.Ile7481Arg)
c.17339T>G (p.Ile5780Arg)
c.6632T>G (p.Ile2211Arg)
c.310T>G
c.22547T>G (p.Ile7516Arg)
c.21713T>G (p.Ile7238Arg)
c.19526T>G (p.Ile6509Arg)
c.20255T>G (p.Ile6752Arg)
c.18068T>G (p.Ile6023Arg)
n.7839-9585A>C
n.8214-9585A>C
2g.151524348A>GCA348764729NEB,RIF1c.1885T>C
n.232T>C
c.5293T>C
n.1467T>C
c.1141T>C
c.22442T>C (p.Ile7481Thr)
c.17339T>C (p.Ile5780Thr)
c.6632T>C (p.Ile2211Thr)
c.310T>C
c.22547T>C (p.Ile7516Thr)
c.21713T>C (p.Ile7238Thr)
c.19526T>C (p.Ile6509Thr)
c.20255T>C (p.Ile6752Thr)
c.18068T>C (p.Ile6023Thr)
n.7839-9585A>G
n.8214-9585A>G
 gnomAD v4
2g.151524348A>TCA348764732NEB,RIF1c.1885T>A
n.232T>A
c.5293T>A
n.1467T>A
c.1141T>A
c.22442T>A (p.Ile7481Lys)
c.17339T>A (p.Ile5780Lys)
c.6632T>A (p.Ile2211Lys)
c.310T>A
c.22547T>A (p.Ile7516Lys)
c.21713T>A (p.Ile7238Lys)
c.19526T>A (p.Ile6509Lys)
c.20255T>A (p.Ile6752Lys)
c.18068T>A (p.Ile6023Lys)
n.7839-9585A>T
n.8214-9585A>T
2g.151524349T>ACA348764737NEB,RIF1c.1884A>T
n.231A>T
c.5292A>T
n.1466A>T
c.1140A>T
c.22441A>T (p.Ile7481Leu)
c.17338A>T (p.Ile5780Leu)
c.6631A>T (p.Ile2211Leu)
c.309A>T
c.22546A>T (p.Ile7516Leu)
c.21712A>T (p.Ile7238Leu)
c.19525A>T (p.Ile6509Leu)
c.20254A>T (p.Ile6752Leu)
c.18067A>T (p.Ile6023Leu)
n.7839-9584T>A
n.8214-9584T>A
2g.151524349T>CCA57624630NEB,RIF1c.1884A>G
n.231A>G
c.5292A>G
n.1466A>G
c.1140A>G
c.22441A>G (p.Ile7481Val)
c.17338A>G (p.Ile5780Val)
c.6631A>G (p.Ile2211Val)
c.309A>G
c.22546A>G (p.Ile7516Val)
c.21712A>G (p.Ile7238Val)
c.19525A>G (p.Ile6509Val)
c.20254A>G (p.Ile6752Val)
c.18067A>G (p.Ile6023Val)
n.7839-9584T>C
n.8214-9584T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.151524349T>GCA348764745NEB,RIF1c.1884A>C
n.231A>C
c.5292A>C
n.1466A>C
c.1140A>C
c.22441A>C (p.Ile7481Leu)
c.17338A>C (p.Ile5780Leu)
c.6631A>C (p.Ile2211Leu)
c.309A>C
c.22546A>C (p.Ile7516Leu)
c.21712A>C (p.Ile7238Leu)
c.19525A>C (p.Ile6509Leu)
c.20254A>C (p.Ile6752Leu)
c.18067A>C (p.Ile6023Leu)
n.7839-9584T>G
n.8214-9584T>G
2g.151524349T=CA1298163586NEB,RIF1c.1884A=
n.231A=
c.5292A=
n.1466A=
c.1140A=
c.22441A= (p.Ile7481=)
c.17338A= (p.Ile5780=)
c.6631A= (p.Ile2211=)
c.309A=
c.22546A= (p.Ile7516=)
c.21712A= (p.Ile7238=)
c.19525A= (p.Ile6509=)
c.20254A= (p.Ile6752=)
c.18067A= (p.Ile6023=)
n.7839-9584T=
n.8214-9584T=
2g.151524350G>ACA429450673NEB,RIF1c.1883C>T
n.230C>T
c.5291C>T
n.1465C>T
c.1139C>T
c.22440C>T (p.Asp7480=)
c.17337C>T (p.Asp5779=)
c.6630C>T (p.Asp2210=)
c.308C>T
c.22545C>T (p.Asp7515=)
c.21711C>T (p.Asp7237=)
c.19524C>T (p.Asp6508=)
c.20253C>T (p.Asp6751=)
c.18066C>T (p.Asp6022=)
n.7839-9583G>A
n.8214-9583G>A
 ClinVar dbSNP
2g.151524350G>CCA348764751NEB,RIF1c.1883C>G
n.230C>G
c.5291C>G
n.1465C>G
c.1139C>G
c.22440C>G (p.Asp7480Glu)
c.17337C>G (p.Asp5779Glu)
c.6630C>G (p.Asp2210Glu)
c.308C>G
c.22545C>G (p.Asp7515Glu)
c.21711C>G (p.Asp7237Glu)
c.19524C>G (p.Asp6508Glu)
c.20253C>G (p.Asp6751Glu)
c.18066C>G (p.Asp6022Glu)
n.7839-9583G>C
n.8214-9583G>C
2g.151524350G>TCA348764754NEB,RIF1c.1883C>A
n.230C>A
c.5291C>A
n.1465C>A
c.1139C>A
c.22440C>A (p.Asp7480Glu)
c.17337C>A (p.Asp5779Glu)
c.6630C>A (p.Asp2210Glu)
c.308C>A
c.22545C>A (p.Asp7515Glu)
c.21711C>A (p.Asp7237Glu)
c.19524C>A (p.Asp6508Glu)
c.20253C>A (p.Asp6751Glu)
c.18066C>A (p.Asp6022Glu)
n.7839-9583G>T
n.8214-9583G>T
2g.151524351T>ACA348764768NEB,RIF1c.1882A>T
n.229A>T
c.5290A>T
n.1464A>T
c.1138A>T
c.22439A>T (p.Asp7480Val)
c.17336A>T (p.Asp5779Val)
c.6629A>T (p.Asp2210Val)
c.307A>T
c.22544A>T (p.Asp7515Val)
c.21710A>T (p.Asp7237Val)
c.19523A>T (p.Asp6508Val)
c.20252A>T (p.Asp6751Val)
c.18065A>T (p.Asp6022Val)
n.7839-9582T>A
n.8214-9582T>A
2g.151524351T>CCA348764766NEB,RIF1c.1882A>G
n.229A>G
c.5290A>G
n.1464A>G
c.1138A>G
c.22439A>G (p.Asp7480Gly)
c.17336A>G (p.Asp5779Gly)
c.6629A>G (p.Asp2210Gly)
c.307A>G
c.22544A>G (p.Asp7515Gly)
c.21710A>G (p.Asp7237Gly)
c.19523A>G (p.Asp6508Gly)
c.20252A>G (p.Asp6751Gly)
c.18065A>G (p.Asp6022Gly)
n.7839-9582T>C
n.8214-9582T>C
2g.151524351T>GCA10610914NEB,RIF1c.1882A>C
n.229A>C
c.5290A>C
n.1464A>C
c.1138A>C
c.22439A>C (p.Asp7480Ala)
c.17336A>C (p.Asp5779Ala)
c.6629A>C (p.Asp2210Ala)
c.307A>C
c.22544A>C (p.Asp7515Ala)
c.21710A>C (p.Asp7237Ala)
c.19523A>C (p.Asp6508Ala)
c.20252A>C (p.Asp6751Ala)
c.18065A>C (p.Asp6022Ala)
n.7839-9582T>G
n.8214-9582T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.151524351T=CA1298163587NEB,RIF1c.1882A=
n.229A=
c.5290A=
n.1464A=
c.1138A=
c.22439A= (p.Asp7480=)
c.17336A= (p.Asp5779=)
c.6629A= (p.Asp2210=)
c.307A=
c.22544A= (p.Asp7515=)
c.21710A= (p.Asp7237=)
c.19523A= (p.Asp6508=)
c.20252A= (p.Asp6751=)
c.18065A= (p.Asp6022=)
n.7839-9582T=
n.8214-9582T=
2g.151524352C>ACA348764773NEB,RIF1c.1881G>T
n.228G>T
c.5289G>T
n.1463G>T
c.1137G>T
c.22438G>T (p.Asp7480Tyr)
c.17335G>T (p.Asp5779Tyr)
c.6628G>T (p.Asp2210Tyr)
c.306G>T
c.22543G>T (p.Asp7515Tyr)
c.21709G>T (p.Asp7237Tyr)
c.19522G>T (p.Asp6508Tyr)
c.20251G>T (p.Asp6751Tyr)
c.18064G>T (p.Asp6022Tyr)
n.7839-9581C>A
n.8214-9581C>A
2g.151524352C>GCA348764771NEB,RIF1c.1881G>C
n.228G>C
c.5289G>C
n.1463G>C
c.1137G>C
c.22438G>C (p.Asp7480His)
c.17335G>C (p.Asp5779His)
c.6628G>C (p.Asp2210His)
c.306G>C
c.22543G>C (p.Asp7515His)
c.21709G>C (p.Asp7237His)
c.19522G>C (p.Asp6508His)
c.20251G>C (p.Asp6751His)
c.18064G>C (p.Asp6022His)
n.7839-9581C>G
n.8214-9581C>G
2g.151524352C>TCA348764772NEB,RIF1c.1881G>A
n.228G>A
c.5289G>A
n.1463G>A
c.1137G>A
c.22438G>A (p.Asp7480Asn)
c.17335G>A (p.Asp5779Asn)
c.6628G>A (p.Asp2210Asn)
c.306G>A
c.22543G>A (p.Asp7515Asn)
c.21709G>A (p.Asp7237Asn)
c.19522G>A (p.Asp6508Asn)
c.20251G>A (p.Asp6751Asn)
c.18064G>A (p.Asp6022Asn)
n.7839-9581C>T
n.8214-9581C>T
2g.151524353T>ACA429450674NEB,RIF1c.1880A>T
n.227A>T
c.5288A>T
n.1462A>T
c.1136A>T
c.22437A>T (p.Pro7479=)
c.17334A>T (p.Pro5778=)
c.6627A>T (p.Pro2209=)
c.305A>T
c.22542A>T (p.Pro7514=)
c.21708A>T (p.Pro7236=)
c.19521A>T (p.Pro6507=)
c.20250A>T (p.Pro6750=)
c.18063A>T (p.Pro6021=)
n.7839-9580T>A
n.8214-9580T>A
2g.151524353T>CCA429450675NEB,RIF1c.1880A>G
n.227A>G
c.5288A>G
n.1462A>G
c.1136A>G
c.22437A>G (p.Pro7479=)
c.17334A>G (p.Pro5778=)
c.6627A>G (p.Pro2209=)
c.305A>G
c.22542A>G (p.Pro7514=)
c.21708A>G (p.Pro7236=)
c.19521A>G (p.Pro6507=)
c.20250A>G (p.Pro6750=)
c.18063A>G (p.Pro6021=)
n.7839-9580T>C
n.8214-9580T>C
2g.151524353T>GCA429450676NEB,RIF1c.1880A>C
n.227A>C
c.5288A>C
n.1462A>C
c.1136A>C
c.22437A>C (p.Pro7479=)
c.17334A>C (p.Pro5778=)
c.6627A>C (p.Pro2209=)
c.305A>C
c.22542A>C (p.Pro7514=)
c.21708A>C (p.Pro7236=)
c.19521A>C (p.Pro6507=)
c.20250A>C (p.Pro6750=)
c.18063A>C (p.Pro6021=)
n.7839-9580T>G
n.8214-9580T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.151524353T=CA1298163588NEB,RIF1c.1880A=
n.227A=
c.5288A=
n.1462A=
c.1136A=
c.22437A= (p.Pro7479=)
c.17334A= (p.Pro5778=)
c.6627A= (p.Pro2209=)
c.305A=
c.22542A= (p.Pro7514=)
c.21708A= (p.Pro7236=)
c.19521A= (p.Pro6507=)
c.20250A= (p.Pro6750=)
c.18063A= (p.Pro6021=)
n.7839-9580T=
n.8214-9580T=
2g.151524354G>ACA348764774NEB,RIF1c.1879C>T
n.226C>T
c.5287C>T
n.1461C>T
c.1135C>T
c.22436C>T (p.Pro7479Leu)
c.17333C>T (p.Pro5778Leu)
c.6626C>T (p.Pro2209Leu)
c.304C>T
c.22541C>T (p.Pro7514Leu)
c.21707C>T (p.Pro7236Leu)
c.19520C>T (p.Pro6507Leu)
c.20249C>T (p.Pro6750Leu)
c.18062C>T (p.Pro6021Leu)
n.7839-9579G>A
n.8214-9579G>A
2g.151524354G>CCA348764775NEB,RIF1c.1879C>G
n.226C>G
c.5287C>G
n.1461C>G
c.1135C>G
c.22436C>G (p.Pro7479Arg)
c.17333C>G (p.Pro5778Arg)
c.6626C>G (p.Pro2209Arg)
c.304C>G
c.22541C>G (p.Pro7514Arg)
c.21707C>G (p.Pro7236Arg)
c.19520C>G (p.Pro6507Arg)
c.20249C>G (p.Pro6750Arg)
c.18062C>G (p.Pro6021Arg)
n.7839-9579G>C
n.8214-9579G>C
2g.151524354G>TCA348764777NEB,RIF1c.1879C>A
n.226C>A
c.5287C>A
n.1461C>A
c.1135C>A
c.22436C>A (p.Pro7479Gln)
c.17333C>A (p.Pro5778Gln)
c.6626C>A (p.Pro2209Gln)
c.304C>A
c.22541C>A (p.Pro7514Gln)
c.21707C>A (p.Pro7236Gln)
c.19520C>A (p.Pro6507Gln)
c.20249C>A (p.Pro6750Gln)
c.18062C>A (p.Pro6021Gln)
n.7839-9579G>T
n.8214-9579G>T
2g.151524355G>ACA348764778NEB,RIF1c.1878C>T
n.225C>T
c.5286C>T
n.1460C>T
c.1134C>T
c.22435C>T (p.Pro7479Ser)
c.17332C>T (p.Pro5778Ser)
c.6625C>T (p.Pro2209Ser)
c.303C>T
c.22540C>T (p.Pro7514Ser)
c.21706C>T (p.Pro7236Ser)
c.19519C>T (p.Pro6507Ser)
c.20248C>T (p.Pro6750Ser)
c.18061C>T (p.Pro6021Ser)
n.7839-9578G>A
n.8214-9578G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.151524355G>CCA348764779NEB,RIF1c.1878C>G
n.225C>G
c.5286C>G
n.1460C>G
c.1134C>G
c.22435C>G (p.Pro7479Ala)
c.17332C>G (p.Pro5778Ala)
c.6625C>G (p.Pro2209Ala)
c.303C>G
c.22540C>G (p.Pro7514Ala)
c.21706C>G (p.Pro7236Ala)
c.19519C>G (p.Pro6507Ala)
c.20248C>G (p.Pro6750Ala)
c.18061C>G (p.Pro6021Ala)
n.7839-9578G>C
n.8214-9578G>C
2g.151524355G=CA1298163589NEB,RIF1c.1878C=
n.225C=
c.5286C=
n.1460C=
c.1134C=
c.22435C= (p.Pro7479=)
c.17332C= (p.Pro5778=)
c.6625C= (p.Pro2209=)
c.303C=
c.22540C= (p.Pro7514=)
c.21706C= (p.Pro7236=)
c.19519C= (p.Pro6507=)
c.20248C= (p.Pro6750=)
c.18061C= (p.Pro6021=)
n.7839-9578G=
n.8214-9578G=
2g.151524355G>TCA348764780NEB,RIF1c.1878C>A
n.225C>A
c.5286C>A
n.1460C>A
c.1134C>A
c.22435C>A (p.Pro7479Thr)
c.17332C>A (p.Pro5778Thr)
c.6625C>A (p.Pro2209Thr)
c.303C>A
c.22540C>A (p.Pro7514Thr)
c.21706C>A (p.Pro7236Thr)
c.19519C>A (p.Pro6507Thr)
c.20248C>A (p.Pro6750Thr)
c.18061C>A (p.Pro6021Thr)
n.7839-9578G>T
n.8214-9578G>T
2g.151524356G>ACA1906649NEB,RIF1c.1877C>T
n.224C>T
c.5285C>T
n.1459C>T
c.1133C>T
c.22434C>T (p.Arg7478=)
c.17331C>T (p.Arg5777=)
c.6624C>T (p.Arg2208=)
c.302C>T
c.22539C>T (p.Arg7513=)
c.21705C>T (p.Arg7235=)
c.19518C>T (p.Arg6506=)
c.20247C>T (p.Arg6749=)
c.18060C>T (p.Arg6020=)
n.7839-9577G>A
n.8214-9577G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524356G>CCA429450677NEB,RIF1c.1877C>G
n.224C>G
c.5285C>G
n.1459C>G
c.1133C>G
c.22434C>G (p.Arg7478=)
c.17331C>G (p.Arg5777=)
c.6624C>G (p.Arg2208=)
c.302C>G
c.22539C>G (p.Arg7513=)
c.21705C>G (p.Arg7235=)
c.19518C>G (p.Arg6506=)
c.20247C>G (p.Arg6749=)
c.18060C>G (p.Arg6020=)
n.7839-9577G>C
n.8214-9577G>C
2g.151524356G=CA1298163590NEB,RIF1c.1877C=
n.224C=
c.5285C=
n.1459C=
c.1133C=
c.22434C= (p.Arg7478=)
c.17331C= (p.Arg5777=)
c.6624C= (p.Arg2208=)
c.302C=
c.22539C= (p.Arg7513=)
c.21705C= (p.Arg7235=)
c.19518C= (p.Arg6506=)
c.20247C= (p.Arg6749=)
c.18060C= (p.Arg6020=)
n.7839-9577G=
n.8214-9577G=
2g.151524356G>TCA429450678NEB,RIF1c.1877C>A
n.224C>A
c.5285C>A
n.1459C>A
c.1133C>A
c.22434C>A (p.Arg7478=)
c.17331C>A (p.Arg5777=)
c.6624C>A (p.Arg2208=)
c.302C>A
c.22539C>A (p.Arg7513=)
c.21705C>A (p.Arg7235=)
c.19518C>A (p.Arg6506=)
c.20247C>A (p.Arg6749=)
c.18060C>A (p.Arg6020=)
n.7839-9577G>T
n.8214-9577G>T
2g.151524357C>ACA348764781NEB,RIF1c.1876G>T
n.223G>T
c.5284G>T
n.1458G>T
c.1132G>T
c.22433G>T (p.Arg7478Leu)
c.17330G>T (p.Arg5777Leu)
c.6623G>T (p.Arg2208Leu)
c.301G>T
c.22538G>T (p.Arg7513Leu)
c.21704G>T (p.Arg7235Leu)
c.19517G>T (p.Arg6506Leu)
c.20246G>T (p.Arg6749Leu)
c.18059G>T (p.Arg6020Leu)
n.7839-9576C>A
n.8214-9576C>A
2g.151524357C=CA1298163591NEB,RIF1c.1876G=
n.223G=
c.5284G=
n.1458G=
c.1132G=
c.22433G= (p.Arg7478=)
c.17330G= (p.Arg5777=)
c.6623G= (p.Arg2208=)
c.301G=
c.22538G= (p.Arg7513=)
c.21704G= (p.Arg7235=)
c.19517G= (p.Arg6506=)
c.20246G= (p.Arg6749=)
c.18059G= (p.Arg6020=)
n.7839-9576C=
n.8214-9576C=
2g.151524357C>GCA348764782NEB,RIF1c.1876G>C
n.223G>C
c.5284G>C
n.1458G>C
c.1132G>C
c.22433G>C (p.Arg7478Pro)
c.17330G>C (p.Arg5777Pro)
c.6623G>C (p.Arg2208Pro)
c.301G>C
c.22538G>C (p.Arg7513Pro)
c.21704G>C (p.Arg7235Pro)
c.19517G>C (p.Arg6506Pro)
c.20246G>C (p.Arg6749Pro)
c.18059G>C (p.Arg6020Pro)
n.7839-9576C>G
n.8214-9576C>G
2g.151524357C>TCA1906650NEB,RIF1c.1876G>A
n.223G>A
c.5284G>A
n.1458G>A
c.1132G>A
c.22433G>A (p.Arg7478His)
c.17330G>A (p.Arg5777His)
c.6623G>A (p.Arg2208His)
c.301G>A
c.22538G>A (p.Arg7513His)
c.21704G>A (p.Arg7235His)
c.19517G>A (p.Arg6506His)
c.20246G>A (p.Arg6749His)
c.18059G>A (p.Arg6020His)
n.7839-9576C>T
n.8214-9576C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.151524358G>ACA231313NEB,RIF1c.1875C>T
n.222C>T
c.5283C>T
n.1457C>T
c.1131C>T
c.22432C>T (p.Arg7478Cys)
c.17329C>T (p.Arg5777Cys)
c.6622C>T (p.Arg2208Cys)
c.300C>T
c.22537C>T (p.Arg7513Cys)
c.21703C>T (p.Arg7235Cys)
c.19516C>T (p.Arg6506Cys)
c.20245C>T (p.Arg6749Cys)
c.18058C>T (p.Arg6020Cys)
n.7839-9575G>A
n.8214-9575G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151524358G>CCA348764784NEB,RIF1c.1875C>G
n.222C>G
c.5283C>G
n.1457C>G
c.1131C>G
c.22432C>G (p.Arg7478Gly)
c.17329C>G (p.Arg5777Gly)
c.6622C>G (p.Arg2208Gly)
c.300C>G
c.22537C>G (p.Arg7513Gly)
c.21703C>G (p.Arg7235Gly)
c.19516C>G (p.Arg6506Gly)
c.20245C>G (p.Arg6749Gly)
c.18058C>G (p.Arg6020Gly)
n.7839-9575G>C
n.8214-9575G>C
2g.151524358G=CA1298163592NEB,RIF1c.1875C=
n.222C=
c.5283C=
n.1457C=
c.1131C=
c.22432C= (p.Arg7478=)
c.17329C= (p.Arg5777=)
c.6622C= (p.Arg2208=)
c.300C=
c.22537C= (p.Arg7513=)
c.21703C= (p.Arg7235=)
c.19516C= (p.Arg6506=)
c.20245C= (p.Arg6749=)
c.18058C= (p.Arg6020=)
n.7839-9575G=
n.8214-9575G=
2g.151524358G>TCA348764783NEB,RIF1c.1875C>A
n.222C>A
c.5283C>A
n.1457C>A
c.1131C>A
c.22432C>A (p.Arg7478Ser)
c.17329C>A (p.Arg5777Ser)
c.6622C>A (p.Arg2208Ser)
c.300C>A
c.22537C>A (p.Arg7513Ser)
c.21703C>A (p.Arg7235Ser)
c.19516C>A (p.Arg6506Ser)
c.20245C>A (p.Arg6749Ser)
c.18058C>A (p.Arg6020Ser)
n.7839-9575G>T
n.8214-9575G>T
 gnomAD v4
2g.151524359A>CCA429450681NEB,RIF1c.1874T>G
n.221T>G
c.5282T>G
n.1456T>G
c.1130T>G
c.22431T>G (p.Gly7477=)
c.17328T>G (p.Gly5776=)
c.6621T>G (p.Gly2207=)
c.299T>G
c.22536T>G (p.Gly7512=)
c.21702T>G (p.Gly7234=)
c.19515T>G (p.Gly6505=)
c.20244T>G (p.Gly6748=)
c.18057T>G (p.Gly6019=)
n.7839-9574A>C
n.8214-9574A>C
2g.151524359A>GCA429450680NEB,RIF1c.1874T>C
n.221T>C
c.5282T>C
n.1456T>C
c.1130T>C
c.22431T>C (p.Gly7477=)
c.17328T>C (p.Gly5776=)
c.6621T>C (p.Gly2207=)
c.299T>C
c.22536T>C (p.Gly7512=)
c.21702T>C (p.Gly7234=)
c.19515T>C (p.Gly6505=)
c.20244T>C (p.Gly6748=)
c.18057T>C (p.Gly6019=)
n.7839-9574A>G
n.8214-9574A>G
 ClinVar
2g.151524359A>TCA429450679NEB,RIF1c.1874T>A
n.221T>A
c.5282T>A
n.1456T>A
c.1130T>A
c.22431T>A (p.Gly7477=)
c.17328T>A (p.Gly5776=)
c.6621T>A (p.Gly2207=)
c.299T>A
c.22536T>A (p.Gly7512=)
c.21702T>A (p.Gly7234=)
c.19515T>A (p.Gly6505=)
c.20244T>A (p.Gly6748=)
c.18057T>A (p.Gly6019=)
n.7839-9574A>T
n.8214-9574A>T
 ClinVar
2g.151524360C>ACA348764785NEB,RIF1c.1873G>T
n.220G>T
c.5281G>T
n.1455G>T
c.1129G>T
c.22430G>T (p.Gly7477Val)
c.17327G>T (p.Gly5776Val)
c.6620G>T (p.Gly2207Val)
c.298G>T
c.22535G>T (p.Gly7512Val)
c.21701G>T (p.Gly7234Val)
c.19514G>T (p.Gly6505Val)
c.20243G>T (p.Gly6748Val)
c.18056G>T (p.Gly6019Val)
n.7839-9573C>A
n.8214-9573C>A
2g.151524360C>GCA348764786NEB,RIF1c.1873G>C
n.220G>C
c.5281G>C
n.1455G>C
c.1129G>C
c.22430G>C (p.Gly7477Ala)
c.17327G>C (p.Gly5776Ala)
c.6620G>C (p.Gly2207Ala)
c.298G>C
c.22535G>C (p.Gly7512Ala)
c.21701G>C (p.Gly7234Ala)
c.19514G>C (p.Gly6505Ala)
c.20243G>C (p.Gly6748Ala)
c.18056G>C (p.Gly6019Ala)
n.7839-9573C>G
n.8214-9573C>G
2g.151524360C>TCA348764787NEB,RIF1c.1873G>A
n.220G>A
c.5281G>A
n.1455G>A
c.1129G>A
c.22430G>A (p.Gly7477Asp)
c.17327G>A (p.Gly5776Asp)
c.6620G>A (p.Gly2207Asp)
c.298G>A
c.22535G>A (p.Gly7512Asp)
c.21701G>A (p.Gly7234Asp)
c.19514G>A (p.Gly6505Asp)
c.20243G>A (p.Gly6748Asp)
c.18056G>A (p.Gly6019Asp)
n.7839-9573C>T
n.8214-9573C>T
2g.151524361C>ACA348764788NEB,RIF1c.1872G>T
n.219G>T
c.5280G>T
n.1454G>T
c.1128G>T
c.22429G>T (p.Gly7477Cys)
c.17326G>T (p.Gly5776Cys)
c.6619G>T (p.Gly2207Cys)
c.297G>T
c.22534G>T (p.Gly7512Cys)
c.21700G>T (p.Gly7234Cys)
c.19513G>T (p.Gly6505Cys)
c.20242G>T (p.Gly6748Cys)
c.18055G>T (p.Gly6019Cys)
n.7839-9572C>A
n.8214-9572C>A
 dbSNP gnomAD v3 gnomAD v4
2g.151524361C=CA1298163593NEB,RIF1c.1872G=
n.219G=
c.5280G=
n.1454G=
c.1128G=
c.22429G= (p.Gly7477=)
c.17326G= (p.Gly5776=)
c.6619G= (p.Gly2207=)
c.297G=
c.22534G= (p.Gly7512=)
c.21700G= (p.Gly7234=)
c.19513G= (p.Gly6505=)
c.20242G= (p.Gly6748=)
c.18055G= (p.Gly6019=)
n.7839-9572C=
n.8214-9572C=
2g.151524361C>GCA348764789NEB,RIF1c.1872G>C
n.219G>C
c.5280G>C
n.1454G>C
c.1128G>C
c.22429G>C (p.Gly7477Arg)
c.17326G>C (p.Gly5776Arg)
c.6619G>C (p.Gly2207Arg)
c.297G>C
c.22534G>C (p.Gly7512Arg)
c.21700G>C (p.Gly7234Arg)
c.19513G>C (p.Gly6505Arg)
c.20242G>C (p.Gly6748Arg)
c.18055G>C (p.Gly6019Arg)
n.7839-9572C>G
n.8214-9572C>G
2g.151524361C>TCA10606067NEB,RIF1c.1872G>A
n.219G>A
c.5280G>A
n.1454G>A
c.1128G>A
c.22429G>A (p.Gly7477Ser)
c.17326G>A (p.Gly5776Ser)
c.6619G>A (p.Gly2207Ser)
c.297G>A
c.22534G>A (p.Gly7512Ser)
c.21700G>A (p.Gly7234Ser)
c.19513G>A (p.Gly6505Ser)
c.20242G>A (p.Gly6748Ser)
c.18055G>A (p.Gly6019Ser)
n.7839-9572C>T
n.8214-9572C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.151524362G>ACA153956NEB,RIF1c.1871C>T
n.218C>T
c.5279C>T
n.1453C>T
c.1127C>T
c.22428C>T (p.Leu7476=)
c.17325C>T (p.Leu5775=)
c.6618C>T (p.Leu2206=)
c.296C>T
c.22533C>T (p.Leu7511=)
c.21699C>T (p.Leu7233=)
c.19512C>T (p.Leu6504=)
c.20241C>T (p.Leu6747=)
c.18054C>T (p.Leu6018=)
n.7839-9571G>A
n.8214-9571G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151524362G>CCA429450682NEB,RIF1c.1871C>G
n.218C>G
c.5279C>G
n.1453C>G
c.1127C>G
c.22428C>G (p.Leu7476=)
c.17325C>G (p.Leu5775=)
c.6618C>G (p.Leu2206=)
c.296C>G
c.22533C>G (p.Leu7511=)
c.21699C>G (p.Leu7233=)
c.19512C>G (p.Leu6504=)
c.20241C>G (p.Leu6747=)
c.18054C>G (p.Leu6018=)
n.7839-9571G>C
n.8214-9571G>C
2g.151524362G=CA1298163594NEB,RIF1c.1871C=
n.218C=
c.5279C=
n.1453C=
c.1127C=
c.22428C= (p.Leu7476=)
c.17325C= (p.Leu5775=)
c.6618C= (p.Leu2206=)
c.296C=
c.22533C= (p.Leu7511=)
c.21699C= (p.Leu7233=)
c.19512C= (p.Leu6504=)
c.20241C= (p.Leu6747=)
c.18054C= (p.Leu6018=)
n.7839-9571G=
n.8214-9571G=
2g.151524362G>TCA429450683NEB,RIF1c.1871C>A
n.218C>A
c.5279C>A
n.1453C>A
c.1127C>A
c.22428C>A (p.Leu7476=)
c.17325C>A (p.Leu5775=)
c.6618C>A (p.Leu2206=)
c.296C>A
c.22533C>A (p.Leu7511=)
c.21699C>A (p.Leu7233=)
c.19512C>A (p.Leu6504=)
c.20241C>A (p.Leu6747=)
c.18054C>A (p.Leu6018=)
n.7839-9571G>T
n.8214-9571G>T
2g.151524363A=CA1298163595NEB,RIF1c.1870T=
n.217T=
c.5278T=
n.1452T=
c.1126T=
c.22427T= (p.Leu7476=)
c.17324T= (p.Leu5775=)
c.6617T= (p.Leu2206=)
c.295T=
c.22532T= (p.Leu7511=)
c.21698T= (p.Leu7233=)
c.19511T= (p.Leu6504=)
c.20240T= (p.Leu6747=)
c.18053T= (p.Leu6018=)
n.7839-9570A=
n.8214-9570A=
2g.151524363A>CCA348764790NEB,RIF1c.1870T>G
n.217T>G
c.5278T>G
n.1452T>G
c.1126T>G
c.22427T>G (p.Leu7476Arg)
c.17324T>G (p.Leu5775Arg)
c.6617T>G (p.Leu2206Arg)
c.295T>G
c.22532T>G (p.Leu7511Arg)
c.21698T>G (p.Leu7233Arg)
c.19511T>G (p.Leu6504Arg)
c.20240T>G (p.Leu6747Arg)
c.18053T>G (p.Leu6018Arg)
n.7839-9570A>C
n.8214-9570A>C
 dbSNP gnomAD v2 gnomAD v4
2g.151524363A>GCA348764791NEB,RIF1c.1870T>C
n.217T>C
c.5278T>C
n.1452T>C
c.1126T>C
c.22427T>C (p.Leu7476Pro)
c.17324T>C (p.Leu5775Pro)
c.6617T>C (p.Leu2206Pro)
c.295T>C
c.22532T>C (p.Leu7511Pro)
c.21698T>C (p.Leu7233Pro)
c.19511T>C (p.Leu6504Pro)
c.20240T>C (p.Leu6747Pro)
c.18053T>C (p.Leu6018Pro)
n.7839-9570A>G
n.8214-9570A>G
2g.151524363A>TCA348764792NEB,RIF1c.1870T>A
n.217T>A
c.5278T>A
n.1452T>A
c.1126T>A
c.22427T>A (p.Leu7476His)
c.17324T>A (p.Leu5775His)
c.6617T>A (p.Leu2206His)
c.295T>A
c.22532T>A (p.Leu7511His)
c.21698T>A (p.Leu7233His)
c.19511T>A (p.Leu6504His)
c.20240T>A (p.Leu6747His)
c.18053T>A (p.Leu6018His)
n.7839-9570A>T
n.8214-9570A>T
2g.151524364G>ACA57624679NEB,RIF1c.1869C>T
n.216C>T
c.5277C>T
n.1451C>T
c.1125C>T
c.22426C>T (p.Leu7476Phe)
c.17323C>T (p.Leu5775Phe)
c.6616C>T (p.Leu2206Phe)
c.294C>T
c.22531C>T (p.Leu7511Phe)
c.21697C>T (p.Leu7233Phe)
c.19510C>T (p.Leu6504Phe)
c.20239C>T (p.Leu6747Phe)
c.18052C>T (p.Leu6018Phe)
n.7839-9569G>A
n.8214-9569G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.151524364G>CCA348764793NEB,RIF1c.1869C>G
n.216C>G
c.5277C>G
n.1451C>G
c.1125C>G
c.22426C>G (p.Leu7476Val)
c.17323C>G (p.Leu5775Val)
c.6616C>G (p.Leu2206Val)
c.294C>G
c.22531C>G (p.Leu7511Val)
c.21697C>G (p.Leu7233Val)
c.19510C>G (p.Leu6504Val)
c.20239C>G (p.Leu6747Val)
c.18052C>G (p.Leu6018Val)
n.7839-9569G>C
n.8214-9569G>C
 gnomAD v4
2g.151524364G=CA1298163596NEB,RIF1c.1869C=
n.216C=
c.5277C=
n.1451C=
c.1125C=
c.22426C= (p.Leu7476=)
c.17323C= (p.Leu5775=)
c.6616C= (p.Leu2206=)
c.294C=
c.22531C= (p.Leu7511=)
c.21697C= (p.Leu7233=)
c.19510C= (p.Leu6504=)
c.20239C= (p.Leu6747=)
c.18052C= (p.Leu6018=)
n.7839-9569G=
n.8214-9569G=
2g.151524364G>TCA348764794NEB,RIF1c.1869C>A
n.216C>A
c.5277C>A
n.1451C>A
c.1125C>A
c.22426C>A (p.Leu7476Ile)
c.17323C>A (p.Leu5775Ile)
c.6616C>A (p.Leu2206Ile)
c.294C>A
c.22531C>A (p.Leu7511Ile)
c.21697C>A (p.Leu7233Ile)
c.19510C>A (p.Leu6504Ile)
c.20239C>A (p.Leu6747Ile)
c.18052C>A (p.Leu6018Ile)
n.7839-9569G>T
n.8214-9569G>T
2g.151524365C>ACA348764796NEB,RIF1c.1868G>T
n.215G>T
c.5276G>T
n.1450G>T
c.1124G>T
c.22425G>T (p.Met7475Ile)
c.17322G>T (p.Met5774Ile)
c.6615G>T (p.Met2205Ile)
c.293G>T
c.22530G>T (p.Met7510Ile)
c.21696G>T (p.Met7232Ile)
c.19509G>T (p.Met6503Ile)
c.20238G>T (p.Met6746Ile)
c.18051G>T (p.Met6017Ile)
n.7839-9568C>A
n.8214-9568C>A
2g.151524365C>GCA348764797NEB,RIF1c.1868G>C
n.215G>C
c.5276G>C
n.1450G>C
c.1124G>C
c.22425G>C (p.Met7475Ile)
c.17322G>C (p.Met5774Ile)
c.6615G>C (p.Met2205Ile)
c.293G>C
c.22530G>C (p.Met7510Ile)
c.21696G>C (p.Met7232Ile)
c.19509G>C (p.Met6503Ile)
c.20238G>C (p.Met6746Ile)
c.18051G>C (p.Met6017Ile)
n.7839-9568C>G
n.8214-9568C>G
2g.151524365C>TCA348764795NEB,RIF1c.1868G>A
n.215G>A
c.5276G>A
n.1450G>A
c.1124G>A
c.22425G>A (p.Met7475Ile)
c.17322G>A (p.Met5774Ile)
c.6615G>A (p.Met2205Ile)
c.293G>A
c.22530G>A (p.Met7510Ile)
c.21696G>A (p.Met7232Ile)
c.19509G>A (p.Met6503Ile)
c.20238G>A (p.Met6746Ile)
c.18051G>A (p.Met6017Ile)
n.7839-9568C>T
n.8214-9568C>T
2g.151524366A=CA1298163597NEB,RIF1c.1867T=
n.214T=
c.5275T=
n.1449T=
c.1123T=
c.22424T= (p.Met7475=)
c.17321T= (p.Met5774=)
c.6614T= (p.Met2205=)
c.292T=
c.22529T= (p.Met7510=)
c.21695T= (p.Met7232=)
c.19508T= (p.Met6503=)
c.20237T= (p.Met6746=)
c.18050T= (p.Met6017=)
n.7839-9567A=
n.8214-9567A=
2g.151524366A>CCA348764798NEB,RIF1c.1867T>G
n.214T>G
c.5275T>G
n.1449T>G
c.1123T>G
c.22424T>G (p.Met7475Arg)
c.17321T>G (p.Met5774Arg)
c.6614T>G (p.Met2205Arg)
c.292T>G
c.22529T>G (p.Met7510Arg)
c.21695T>G (p.Met7232Arg)
c.19508T>G (p.Met6503Arg)
c.20237T>G (p.Met6746Arg)
c.18050T>G (p.Met6017Arg)
n.7839-9567A>C
n.8214-9567A>C
 gnomAD v4
2g.151524366A>GCA1906651NEB,RIF1c.1867T>C
n.214T>C
c.5275T>C
n.1449T>C
c.1123T>C
c.22424T>C (p.Met7475Thr)
c.17321T>C (p.Met5774Thr)
c.6614T>C (p.Met2205Thr)
c.292T>C
c.22529T>C (p.Met7510Thr)
c.21695T>C (p.Met7232Thr)
c.19508T>C (p.Met6503Thr)
c.20237T>C (p.Met6746Thr)
c.18050T>C (p.Met6017Thr)
n.7839-9567A>G
n.8214-9567A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524366A>TCA348764799NEB,RIF1c.1867T>A
n.214T>A
c.5275T>A
n.1449T>A
c.1123T>A
c.22424T>A (p.Met7475Lys)
c.17321T>A (p.Met5774Lys)
c.6614T>A (p.Met2205Lys)
c.292T>A
c.22529T>A (p.Met7510Lys)
c.21695T>A (p.Met7232Lys)
c.19508T>A (p.Met6503Lys)
c.20237T>A (p.Met6746Lys)
c.18050T>A (p.Met6017Lys)
n.7839-9567A>T
n.8214-9567A>T
2g.151524367T>ACA348764800NEB,RIF1c.1866A>T
n.213A>T
c.5274A>T
n.1448A>T
c.1122A>T
c.22423A>T (p.Met7475Leu)
c.17320A>T (p.Met5774Leu)
c.6613A>T (p.Met2205Leu)
c.291A>T
c.22528A>T (p.Met7510Leu)
c.21694A>T (p.Met7232Leu)
c.19507A>T (p.Met6503Leu)
c.20236A>T (p.Met6746Leu)
c.18049A>T (p.Met6017Leu)
n.7839-9566T>A
n.8214-9566T>A
2g.151524367T>CCA348764802NEB,RIF1c.1866A>G
n.213A>G
c.5274A>G
n.1448A>G
c.1122A>G
c.22423A>G (p.Met7475Val)
c.17320A>G (p.Met5774Val)
c.6613A>G (p.Met2205Val)
c.291A>G
c.22528A>G (p.Met7510Val)
c.21694A>G (p.Met7232Val)
c.19507A>G (p.Met6503Val)
c.20236A>G (p.Met6746Val)
c.18049A>G (p.Met6017Val)
n.7839-9566T>C
n.8214-9566T>C
 gnomAD v4
2g.151524367T>GCA348764801NEB,RIF1c.1866A>C
n.213A>C
c.5274A>C
n.1448A>C
c.1122A>C
c.22423A>C (p.Met7475Leu)
c.17320A>C (p.Met5774Leu)
c.6613A>C (p.Met2205Leu)
c.291A>C
c.22528A>C (p.Met7510Leu)
c.21694A>C (p.Met7232Leu)
c.19507A>C (p.Met6503Leu)
c.20236A>C (p.Met6746Leu)
c.18049A>C (p.Met6017Leu)
n.7839-9566T>G
n.8214-9566T>G
2g.151524368G>ACA429450684NEB,RIF1c.1865C>T
n.212C>T
c.5273C>T
n.1447C>T
c.1121C>T
c.22422C>T (p.Ser7474=)
c.17319C>T (p.Ser5773=)
c.6612C>T (p.Ser2204=)
c.290C>T
c.22527C>T (p.Ser7509=)
c.21693C>T (p.Ser7231=)
c.19506C>T (p.Ser6502=)
c.20235C>T (p.Ser6745=)
c.18048C>T (p.Ser6016=)
n.7839-9565G>A
n.8214-9565G>A
 gnomAD v4
2g.151524368G>CCA348764803NEB,RIF1c.1865C>G
n.212C>G
c.5273C>G
n.1447C>G
c.1121C>G
c.22422C>G (p.Ser7474Arg)
c.17319C>G (p.Ser5773Arg)
c.6612C>G (p.Ser2204Arg)
c.290C>G
c.22527C>G (p.Ser7509Arg)
c.21693C>G (p.Ser7231Arg)
c.19506C>G (p.Ser6502Arg)
c.20235C>G (p.Ser6745Arg)
c.18048C>G (p.Ser6016Arg)
n.7839-9565G>C
n.8214-9565G>C
2g.151524368G>TCA348764804NEB,RIF1c.1865C>A
n.212C>A
c.5273C>A
n.1447C>A
c.1121C>A
c.22422C>A (p.Ser7474Arg)
c.17319C>A (p.Ser5773Arg)
c.6612C>A (p.Ser2204Arg)
c.290C>A
c.22527C>A (p.Ser7509Arg)
c.21693C>A (p.Ser7231Arg)
c.19506C>A (p.Ser6502Arg)
c.20235C>A (p.Ser6745Arg)
c.18048C>A (p.Ser6016Arg)
n.7839-9565G>T
n.8214-9565G>T
2g.151524369C>ACA348764805NEB,RIF1c.1864G>T
n.211G>T
c.5272G>T
n.1446G>T
c.1120G>T
c.22421G>T (p.Ser7474Ile)
c.17318G>T (p.Ser5773Ile)
c.6611G>T (p.Ser2204Ile)
c.289G>T
c.22526G>T (p.Ser7509Ile)
c.21692G>T (p.Ser7231Ile)
c.19505G>T (p.Ser6502Ile)
c.20234G>T (p.Ser6745Ile)
c.18047G>T (p.Ser6016Ile)
n.7839-9564C>A
n.8214-9564C>A
2g.151524369C>GCA348764806NEB,RIF1c.1864G>C
n.211G>C
c.5272G>C
n.1446G>C
c.1120G>C
c.22421G>C (p.Ser7474Thr)
c.17318G>C (p.Ser5773Thr)
c.6611G>C (p.Ser2204Thr)
c.289G>C
c.22526G>C (p.Ser7509Thr)
c.21692G>C (p.Ser7231Thr)
c.19505G>C (p.Ser6502Thr)
c.20234G>C (p.Ser6745Thr)
c.18047G>C (p.Ser6016Thr)
n.7839-9564C>G
n.8214-9564C>G
 gnomAD v4
2g.151524369C>TCA348764807NEB,RIF1c.1864G>A
n.211G>A
c.5272G>A
n.1446G>A
c.1120G>A
c.22421G>A (p.Ser7474Asn)
c.17318G>A (p.Ser5773Asn)
c.6611G>A (p.Ser2204Asn)
c.289G>A
c.22526G>A (p.Ser7509Asn)
c.21692G>A (p.Ser7231Asn)
c.19505G>A (p.Ser6502Asn)
c.20234G>A (p.Ser6745Asn)
c.18047G>A (p.Ser6016Asn)
n.7839-9564C>T
n.8214-9564C>T
2g.151524370T>ACA348764808NEB,RIF1c.1863A>T
n.210A>T
c.5271A>T
n.1445A>T
c.1119A>T
c.22420A>T (p.Ser7474Cys)
c.17317A>T (p.Ser5773Cys)
c.6610A>T (p.Ser2204Cys)
c.288A>T
c.22525A>T (p.Ser7509Cys)
c.21691A>T (p.Ser7231Cys)
c.19504A>T (p.Ser6502Cys)
c.20233A>T (p.Ser6745Cys)
c.18046A>T (p.Ser6016Cys)
n.7839-9563T>A
n.8214-9563T>A
 ClinVar gnomAD v4
2g.151524370T>CCA348764809NEB,RIF1c.1863A>G
n.210A>G
c.5271A>G
n.1445A>G
c.1119A>G
c.22420A>G (p.Ser7474Gly)
c.17317A>G (p.Ser5773Gly)
c.6610A>G (p.Ser2204Gly)
c.288A>G
c.22525A>G (p.Ser7509Gly)
c.21691A>G (p.Ser7231Gly)
c.19504A>G (p.Ser6502Gly)
c.20233A>G (p.Ser6745Gly)
c.18046A>G (p.Ser6016Gly)
n.7839-9563T>C
n.8214-9563T>C
 gnomAD v4
2g.151524370T>GCA348764810NEB,RIF1c.1863A>C
n.210A>C
c.5271A>C
n.1445A>C
c.1119A>C
c.22420A>C (p.Ser7474Arg)
c.17317A>C (p.Ser5773Arg)
c.6610A>C (p.Ser2204Arg)
c.288A>C
c.22525A>C (p.Ser7509Arg)
c.21691A>C (p.Ser7231Arg)
c.19504A>C (p.Ser6502Arg)
c.20233A>C (p.Ser6745Arg)
c.18046A>C (p.Ser6016Arg)
n.7839-9563T>G
n.8214-9563T>G
2g.151524371T>ACA348764811NEB,RIF1c.1862A>T
n.209A>T
c.5270A>T
n.1444A>T
c.1118A>T
c.22419A>T (p.Leu7473Phe)
c.17316A>T (p.Leu5772Phe)
c.6609A>T (p.Leu2203Phe)
c.287A>T
c.22524A>T (p.Leu7508Phe)
c.21690A>T (p.Leu7230Phe)
c.19503A>T (p.Leu6501Phe)
c.20232A>T (p.Leu6744Phe)
c.18045A>T (p.Leu6015Phe)
n.7839-9562T>A
n.8214-9562T>A
2g.151524371T>CCA429450685NEB,RIF1c.1862A>G
n.209A>G
c.5270A>G
n.1444A>G
c.1118A>G
c.22419A>G (p.Leu7473=)
c.17316A>G (p.Leu5772=)
c.6609A>G (p.Leu2203=)
c.287A>G
c.22524A>G (p.Leu7508=)
c.21690A>G (p.Leu7230=)
c.19503A>G (p.Leu6501=)
c.20232A>G (p.Leu6744=)
c.18045A>G (p.Leu6015=)
n.7839-9562T>C
n.8214-9562T>C
2g.151524371T>GCA348764812NEB,RIF1c.1862A>C
n.209A>C
c.5270A>C
n.1444A>C
c.1118A>C
c.22419A>C (p.Leu7473Phe)
c.17316A>C (p.Leu5772Phe)
c.6609A>C (p.Leu2203Phe)
c.287A>C
c.22524A>C (p.Leu7508Phe)
c.21690A>C (p.Leu7230Phe)
c.19503A>C (p.Leu6501Phe)
c.20232A>C (p.Leu6744Phe)
c.18045A>C (p.Leu6015Phe)
n.7839-9562T>G
n.8214-9562T>G
2g.151524371T=CA1298163598NEB,RIF1c.1862A=
n.209A=
c.5270A=
n.1444A=
c.1118A=
c.22419A= (p.Leu7473=)
c.17316A= (p.Leu5772=)
c.6609A= (p.Leu2203=)
c.287A=
c.22524A= (p.Leu7508=)
c.21690A= (p.Leu7230=)
c.19503A= (p.Leu6501=)
c.20232A= (p.Leu6744=)
c.18045A= (p.Leu6015=)
n.7839-9562T=
n.8214-9562T=
2g.151524372A>CCA348764815NEB,RIF1c.1861T>G
n.208T>G
c.5269T>G
n.1443T>G
c.1117T>G
c.22418T>G (p.Leu7473Ter)
c.17315T>G (p.Leu5772Ter)
c.6608T>G (p.Leu2203Ter)
c.286T>G
c.22523T>G (p.Leu7508Ter)
c.21689T>G (p.Leu7230Ter)
c.19502T>G (p.Leu6501Ter)
c.20231T>G (p.Leu6744Ter)
c.18044T>G (p.Leu6015Ter)
n.7839-9561A>C
n.8214-9561A>C
2g.151524372A>GCA348764813NEB,RIF1c.1861T>C
n.208T>C
c.5269T>C
n.1443T>C
c.1117T>C
c.22418T>C (p.Leu7473Ser)
c.17315T>C (p.Leu5772Ser)
c.6608T>C (p.Leu2203Ser)
c.286T>C
c.22523T>C (p.Leu7508Ser)
c.21689T>C (p.Leu7230Ser)
c.19502T>C (p.Leu6501Ser)
c.20231T>C (p.Leu6744Ser)
c.18044T>C (p.Leu6015Ser)
n.7839-9561A>G
n.8214-9561A>G
2g.151524372A>TCA348764814NEB,RIF1c.1861T>A
n.208T>A
c.5269T>A
n.1443T>A
c.1117T>A
c.22418T>A (p.Leu7473Ter)
c.17315T>A (p.Leu5772Ter)
c.6608T>A (p.Leu2203Ter)
c.286T>A
c.22523T>A (p.Leu7508Ter)
c.21689T>A (p.Leu7230Ter)
c.19502T>A (p.Leu6501Ter)
c.20231T>A (p.Leu6744Ter)
c.18044T>A (p.Leu6015Ter)
n.7839-9561A>T
n.8214-9561A>T
2g.151524373dupCA916080273NEB,RIF1c.1861dup
n.208dup
c.5269dup
n.1443dup
c.1117dup
c.22418dup (p.Leu7473PhefsTer23)
c.17315dup (p.Leu5772PhefsTer23)
c.6608dup (p.Leu2203PhefsTer23)
c.286dup
c.22523dup (p.Leu7508PhefsTer23)
c.21689dup (p.Leu7230PhefsTer23)
c.19502dup (p.Leu6501PhefsTer23)
c.20231dup (p.Leu6744PhefsTer23)
c.18044dup (p.Leu6015PhefsTer23)
n.7839-9560dup
n.8214-9560dup
 ClinVar dbSNP
2g.151524373A>CCA348764816NEB,RIF1c.1860T>G
n.207T>G
c.5268T>G
n.1442T>G
c.1116T>G
c.22417T>G (p.Leu7473Val)
c.17314T>G (p.Leu5772Val)
c.6607T>G (p.Leu2203Val)
c.285T>G
c.22522T>G (p.Leu7508Val)
c.21688T>G (p.Leu7230Val)
c.19501T>G (p.Leu6501Val)
c.20230T>G (p.Leu6744Val)
c.18043T>G (p.Leu6015Val)
n.7839-9560A>C
n.8214-9560A>C
2g.151524373A>GCA429450686NEB,RIF1c.1860T>C
n.207T>C
c.5268T>C
n.1442T>C
c.1116T>C
c.22417T>C (p.Leu7473=)
c.17314T>C (p.Leu5772=)
c.6607T>C (p.Leu2203=)
c.285T>C
c.22522T>C (p.Leu7508=)
c.21688T>C (p.Leu7230=)
c.19501T>C (p.Leu6501=)
c.20230T>C (p.Leu6744=)
c.18043T>C (p.Leu6015=)
n.7839-9560A>G
n.8214-9560A>G
 ClinVar
2g.151524373A>TCA348764817NEB,RIF1c.1860T>A
n.207T>A
c.5268T>A
n.1442T>A
c.1116T>A
c.22417T>A (p.Leu7473Ile)
c.17314T>A (p.Leu5772Ile)
c.6607T>A (p.Leu2203Ile)
c.285T>A
c.22522T>A (p.Leu7508Ile)
c.21688T>A (p.Leu7230Ile)
c.19501T>A (p.Leu6501Ile)
c.20230T>A (p.Leu6744Ile)
c.18043T>A (p.Leu6015Ile)
n.7839-9560A>T
n.8214-9560A>T
2g.151524374G>ACA429450687NEB,RIF1c.1859C>T
n.206C>T
c.5267C>T
n.1441C>T
c.1115C>T
c.22416C>T (p.Gly7472=)
c.17313C>T (p.Gly5771=)
c.6606C>T (p.Gly2202=)
c.284C>T
c.22521C>T (p.Gly7507=)
c.21687C>T (p.Gly7229=)
c.19500C>T (p.Gly6500=)
c.20229C>T (p.Gly6743=)
c.18042C>T (p.Gly6014=)
n.7839-9559G>A
n.8214-9559G>A
2g.151524374G>CCA429450688NEB,RIF1c.1859C>G
n.206C>G
c.5267C>G
n.1441C>G
c.1115C>G
c.22416C>G (p.Gly7472=)
c.17313C>G (p.Gly5771=)
c.6606C>G (p.Gly2202=)
c.284C>G
c.22521C>G (p.Gly7507=)
c.21687C>G (p.Gly7229=)
c.19500C>G (p.Gly6500=)
c.20229C>G (p.Gly6743=)
c.18042C>G (p.Gly6014=)
n.7839-9559G>C
n.8214-9559G>C
2g.151524374G>TCA429450689NEB,RIF1c.1859C>A
n.206C>A
c.5267C>A
n.1441C>A
c.1115C>A
c.22416C>A (p.Gly7472=)
c.17313C>A (p.Gly5771=)
c.6606C>A (p.Gly2202=)
c.284C>A
c.22521C>A (p.Gly7507=)
c.21687C>A (p.Gly7229=)
c.19500C>A (p.Gly6500=)
c.20229C>A (p.Gly6743=)
c.18042C>A (p.Gly6014=)
n.7839-9559G>T
n.8214-9559G>T
2g.151524375C>ACA348764818NEB,RIF1c.1858G>T
n.205G>T
c.5266G>T
n.1440G>T
c.1114G>T
c.22415G>T (p.Gly7472Val)
c.17312G>T (p.Gly5771Val)
c.6605G>T (p.Gly2202Val)
c.283G>T
c.22520G>T (p.Gly7507Val)
c.21686G>T (p.Gly7229Val)
c.19499G>T (p.Gly6500Val)
c.20228G>T (p.Gly6743Val)
c.18041G>T (p.Gly6014Val)
n.7839-9558C>A
n.8214-9558C>A
2g.151524375C=CA1298163599NEB,RIF1c.1858G=
n.205G=
c.5266G=
n.1440G=
c.1114G=
c.22415G= (p.Gly7472=)
c.17312G= (p.Gly5771=)
c.6605G= (p.Gly2202=)
c.283G=
c.22520G= (p.Gly7507=)
c.21686G= (p.Gly7229=)
c.19499G= (p.Gly6500=)
c.20228G= (p.Gly6743=)
c.18041G= (p.Gly6014=)
n.7839-9558C=
n.8214-9558C=
2g.151524375C>GCA348764819NEB,RIF1c.1858G>C
n.205G>C
c.5266G>C
n.1440G>C
c.1114G>C
c.22415G>C (p.Gly7472Ala)
c.17312G>C (p.Gly5771Ala)
c.6605G>C (p.Gly2202Ala)
c.283G>C
c.22520G>C (p.Gly7507Ala)
c.21686G>C (p.Gly7229Ala)
c.19499G>C (p.Gly6500Ala)
c.20228G>C (p.Gly6743Ala)
c.18041G>C (p.Gly6014Ala)
n.7839-9558C>G
n.8214-9558C>G
2g.151524375C>TCA1906652NEB,RIF1c.1858G>A
n.205G>A
c.5266G>A
n.1440G>A
c.1114G>A
c.22415G>A (p.Gly7472Asp)
c.17312G>A (p.Gly5771Asp)
c.6605G>A (p.Gly2202Asp)
c.283G>A
c.22520G>A (p.Gly7507Asp)
c.21686G>A (p.Gly7229Asp)
c.19499G>A (p.Gly6500Asp)
c.20228G>A (p.Gly6743Asp)
c.18041G>A (p.Gly6014Asp)
n.7839-9558C>T
n.8214-9558C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524376C>ACA57624698NEB,RIF1c.1857G>T
n.204G>T
c.5265G>T
n.1439G>T
c.1113G>T
c.22414G>T (p.Gly7472Cys)
c.17311G>T (p.Gly5771Cys)
c.6604G>T (p.Gly2202Cys)
c.282G>T
c.22519G>T (p.Gly7507Cys)
c.21685G>T (p.Gly7229Cys)
c.19498G>T (p.Gly6500Cys)
c.20227G>T (p.Gly6743Cys)
c.18040G>T (p.Gly6014Cys)
n.7839-9557C>A
n.8214-9557C>A
 dbSNP gnomAD v3 gnomAD v4
2g.151524376C=CA1298163600NEB,RIF1c.1857G=
n.204G=
c.5265G=
n.1439G=
c.1113G=
c.22414G= (p.Gly7472=)
c.17311G= (p.Gly5771=)
c.6604G= (p.Gly2202=)
c.282G=
c.22519G= (p.Gly7507=)
c.21685G= (p.Gly7229=)
c.19498G= (p.Gly6500=)
c.20227G= (p.Gly6743=)
c.18040G= (p.Gly6014=)
n.7839-9557C=
n.8214-9557C=
2g.151524376C>GCA348764820NEB,RIF1c.1857G>C
n.204G>C
c.5265G>C
n.1439G>C
c.1113G>C
c.22414G>C (p.Gly7472Arg)
c.17311G>C (p.Gly5771Arg)
c.6604G>C (p.Gly2202Arg)
c.282G>C
c.22519G>C (p.Gly7507Arg)
c.21685G>C (p.Gly7229Arg)
c.19498G>C (p.Gly6500Arg)
c.20227G>C (p.Gly6743Arg)
c.18040G>C (p.Gly6014Arg)
n.7839-9557C>G
n.8214-9557C>G
2g.151524376C>TCA1906653NEB,RIF1c.1857G>A
n.204G>A
c.5265G>A
n.1439G>A
c.1113G>A
c.22414G>A (p.Gly7472Ser)
c.17311G>A (p.Gly5771Ser)
c.6604G>A (p.Gly2202Ser)
c.282G>A
c.22519G>A (p.Gly7507Ser)
c.21685G>A (p.Gly7229Ser)
c.19498G>A (p.Gly6500Ser)
c.20227G>A (p.Gly6743Ser)
c.18040G>A (p.Gly6014Ser)
n.7839-9557C>T
n.8214-9557C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151524377A>CCA348764821NEB,RIF1c.1856T>G
n.203T>G
c.5264T>G
n.1438T>G
c.1112T>G
c.22413T>G (p.His7471Gln)
c.17310T>G (p.His5770Gln)
c.6603T>G (p.His2201Gln)
c.281T>G
c.22518T>G (p.His7506Gln)
c.21684T>G (p.His7228Gln)
c.19497T>G (p.His6499Gln)
c.20226T>G (p.His6742Gln)
c.18039T>G (p.His6013Gln)
n.7839-9556A>C
n.8214-9556A>C
2g.151524377A>GCA429450690NEB,RIF1c.1856T>C
n.203T>C
c.5264T>C
n.1438T>C
c.1112T>C
c.22413T>C (p.His7471=)
c.17310T>C (p.His5770=)
c.6603T>C (p.His2201=)
c.281T>C
c.22518T>C (p.His7506=)
c.21684T>C (p.His7228=)
c.19497T>C (p.His6499=)
c.20226T>C (p.His6742=)
c.18039T>C (p.His6013=)
n.7839-9556A>G
n.8214-9556A>G
 dbSNP
2g.151524377A>TCA348764822NEB,RIF1c.1856T>A
n.203T>A
c.5264T>A
n.1438T>A
c.1112T>A
c.22413T>A (p.His7471Gln)
c.17310T>A (p.His5770Gln)
c.6603T>A (p.His2201Gln)
c.281T>A
c.22518T>A (p.His7506Gln)
c.21684T>A (p.His7228Gln)
c.19497T>A (p.His6499Gln)
c.20226T>A (p.His6742Gln)
c.18039T>A (p.His6013Gln)
n.7839-9556A>T
n.8214-9556A>T
2g.151524378T>ACA348764824NEB,RIF1c.1855A>T
n.202A>T
c.5263A>T
n.1437A>T
c.1111A>T
c.22412A>T (p.His7471Leu)
c.17309A>T (p.His5770Leu)
c.6602A>T (p.His2201Leu)
c.280A>T
c.22517A>T (p.His7506Leu)
c.21683A>T (p.His7228Leu)
c.19496A>T (p.His6499Leu)
c.20225A>T (p.His6742Leu)
c.18038A>T (p.His6013Leu)
n.7839-9555T>A
n.8214-9555T>A
2g.151524378T>CCA348764825NEB,RIF1c.1855A>G
n.202A>G
c.5263A>G
n.1437A>G
c.1111A>G
c.22412A>G (p.His7471Arg)
c.17309A>G (p.His5770Arg)
c.6602A>G (p.His2201Arg)
c.280A>G
c.22517A>G (p.His7506Arg)
c.21683A>G (p.His7228Arg)
c.19496A>G (p.His6499Arg)
c.20225A>G (p.His6742Arg)
c.18038A>G (p.His6013Arg)
n.7839-9555T>C
n.8214-9555T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.151524378T>GCA348764823NEB,RIF1c.1855A>C
n.202A>C
c.5263A>C
n.1437A>C
c.1111A>C
c.22412A>C (p.His7471Pro)
c.17309A>C (p.His5770Pro)
c.6602A>C (p.His2201Pro)
c.280A>C
c.22517A>C (p.His7506Pro)
c.21683A>C (p.His7228Pro)
c.19496A>C (p.His6499Pro)
c.20225A>C (p.His6742Pro)
c.18038A>C (p.His6013Pro)
n.7839-9555T>G
n.8214-9555T>G
2g.151524378T=CA1298163601NEB,RIF1c.1855A=
n.202A=
c.5263A=
n.1437A=
c.1111A=
c.22412A= (p.His7471=)
c.17309A= (p.His5770=)
c.6602A= (p.His2201=)
c.280A=
c.22517A= (p.His7506=)
c.21683A= (p.His7228=)
c.19496A= (p.His6499=)
c.20225A= (p.His6742=)
c.18038A= (p.His6013=)
n.7839-9555T=
n.8214-9555T=
2g.151524379G>ACA348764826NEB,RIF1c.1854C>T
n.201C>T
c.5262C>T
n.1436C>T
c.1110C>T
c.22411C>T (p.His7471Tyr)
c.17308C>T (p.His5770Tyr)
c.6601C>T (p.His2201Tyr)
c.279C>T
c.22516C>T (p.His7506Tyr)
c.21682C>T (p.His7228Tyr)
c.19495C>T (p.His6499Tyr)
c.20224C>T (p.His6742Tyr)
c.18037C>T (p.His6013Tyr)
n.7839-9554G>A
n.8214-9554G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.151524379G>CCA348764827NEB,RIF1c.1854C>G
n.201C>G
c.5262C>G
n.1436C>G
c.1110C>G
c.22411C>G (p.His7471Asp)
c.17308C>G (p.His5770Asp)
c.6601C>G (p.His2201Asp)
c.279C>G
c.22516C>G (p.His7506Asp)
c.21682C>G (p.His7228Asp)
c.19495C>G (p.His6499Asp)
c.20224C>G (p.His6742Asp)
c.18037C>G (p.His6013Asp)
n.7839-9554G>C
n.8214-9554G>C
2g.151524379G=CA1298163602NEB,RIF1c.1854C=
n.201C=
c.5262C=
n.1436C=
c.1110C=
c.22411C= (p.His7471=)
c.17308C= (p.His5770=)
c.6601C= (p.His2201=)
c.279C=
c.22516C= (p.His7506=)
c.21682C= (p.His7228=)
c.19495C= (p.His6499=)
c.20224C= (p.His6742=)
c.18037C= (p.His6013=)
n.7839-9554G=
n.8214-9554G=
2g.151524379G>TCA348764828NEB,RIF1c.1854C>A
n.201C>A
c.5262C>A
n.1436C>A
c.1110C>A
c.22411C>A (p.His7471Asn)
c.17308C>A (p.His5770Asn)
c.6601C>A (p.His2201Asn)
c.279C>A
c.22516C>A (p.His7506Asn)
c.21682C>A (p.His7228Asn)
c.19495C>A (p.His6499Asn)
c.20224C>A (p.His6742Asn)
c.18037C>A (p.His6013Asn)
n.7839-9554G>T
n.8214-9554G>T
2g.151524380G>ACA429450691NEB,RIF1c.1853C>T
n.200C>T
c.5261C>T
n.1435C>T
c.1109C>T
c.22410C>T (p.Ser7470=)
c.17307C>T (p.Ser5769=)
c.6600C>T (p.Ser2200=)
c.278C>T
c.22515C>T (p.Ser7505=)
c.21681C>T (p.Ser7227=)
c.19494C>T (p.Ser6498=)
c.20223C>T (p.Ser6741=)
c.18036C>T (p.Ser6012=)
n.7839-9553G>A
n.8214-9553G>A
 COSMIC COSMIC COSMIC
2g.151524380G>CCA348764829NEB,RIF1c.1853C>G
n.200C>G
c.5261C>G
n.1435C>G
c.1109C>G
c.22410C>G (p.Ser7470Arg)
c.17307C>G (p.Ser5769Arg)
c.6600C>G (p.Ser2200Arg)
c.278C>G
c.22515C>G (p.Ser7505Arg)
c.21681C>G (p.Ser7227Arg)
c.19494C>G (p.Ser6498Arg)
c.20223C>G (p.Ser6741Arg)
c.18036C>G (p.Ser6012Arg)
n.7839-9553G>C
n.8214-9553G>C
 dbSNP gnomAD v2 gnomAD v4
2g.151524380G=CA1298163603NEB,RIF1c.1853C=
n.200C=
c.5261C=
n.1435C=
c.1109C=
c.22410C= (p.Ser7470=)
c.17307C= (p.Ser5769=)
c.6600C= (p.Ser2200=)
c.278C=
c.22515C= (p.Ser7505=)
c.21681C= (p.Ser7227=)
c.19494C= (p.Ser6498=)
c.20223C= (p.Ser6741=)
c.18036C= (p.Ser6012=)
n.7839-9553G=
n.8214-9553G=
2g.151524380G>TCA348764830NEB,RIF1c.1853C>A
n.200C>A
c.5261C>A
n.1435C>A
c.1109C>A
c.22410C>A (p.Ser7470Arg)
c.17307C>A (p.Ser5769Arg)
c.6600C>A (p.Ser2200Arg)
c.278C>A
c.22515C>A (p.Ser7505Arg)
c.21681C>A (p.Ser7227Arg)
c.19494C>A (p.Ser6498Arg)
c.20223C>A (p.Ser6741Arg)
c.18036C>A (p.Ser6012Arg)
n.7839-9553G>T
n.8214-9553G>T
2g.151524381C>ACA348764831NEB,RIF1c.1852G>T
n.199G>T
c.5260G>T
n.1434G>T
c.1108G>T
c.22409G>T (p.Ser7470Ile)
c.17306G>T (p.Ser5769Ile)
c.6599G>T (p.Ser2200Ile)
c.277G>T
c.22514G>T (p.Ser7505Ile)
c.21680G>T (p.Ser7227Ile)
c.19493G>T (p.Ser6498Ile)
c.20222G>T (p.Ser6741Ile)
c.18035G>T (p.Ser6012Ile)
n.7839-9552C>A
n.8214-9552C>A
2g.151524381C=CA1298163604NEB,RIF1c.1852G=
n.199G=
c.5260G=
n.1434G=
c.1108G=
c.22409G= (p.Ser7470=)
c.17306G= (p.Ser5769=)
c.6599G= (p.Ser2200=)
c.277G=
c.22514G= (p.Ser7505=)
c.21680G= (p.Ser7227=)
c.19493G= (p.Ser6498=)
c.20222G= (p.Ser6741=)
c.18035G= (p.Ser6012=)
n.7839-9552C=
n.8214-9552C=
2g.151524381C>GCA348764832NEB,RIF1c.1852G>C
n.199G>C
c.5260G>C
n.1434G>C
c.1108G>C
c.22409G>C (p.Ser7470Thr)
c.17306G>C (p.Ser5769Thr)
c.6599G>C (p.Ser2200Thr)
c.277G>C
c.22514G>C (p.Ser7505Thr)
c.21680G>C (p.Ser7227Thr)
c.19493G>C (p.Ser6498Thr)
c.20222G>C (p.Ser6741Thr)
c.18035G>C (p.Ser6012Thr)
n.7839-9552C>G
n.8214-9552C>G
 dbSNP gnomAD v3 gnomAD v4
2g.151524381C>TCA348764833NEB,RIF1c.1852G>A
n.199G>A
c.5260G>A
n.1434G>A
c.1108G>A
c.22409G>A (p.Ser7470Asn)
c.17306G>A (p.Ser5769Asn)
c.6599G>A (p.Ser2200Asn)
c.277G>A
c.22514G>A (p.Ser7505Asn)
c.21680G>A (p.Ser7227Asn)
c.19493G>A (p.Ser6498Asn)
c.20222G>A (p.Ser6741Asn)
c.18035G>A (p.Ser6012Asn)
n.7839-9552C>T
n.8214-9552C>T
 gnomAD v4
2g.151524382T>ACA348764834NEB,RIF1c.1851A>T
n.198A>T
c.5259A>T
n.1433A>T
c.1107A>T
c.22408A>T (p.Ser7470Cys)
c.17305A>T (p.Ser5769Cys)
c.6598A>T (p.Ser2200Cys)
c.276A>T
c.22513A>T (p.Ser7505Cys)
c.21679A>T (p.Ser7227Cys)
c.19492A>T (p.Ser6498Cys)
c.20221A>T (p.Ser6741Cys)
c.18034A>T (p.Ser6012Cys)
n.7839-9551T>A
n.8214-9551T>A
2g.151524382T>CCA348764835NEB,RIF1c.1851A>G
n.198A>G
c.5259A>G
n.1433A>G
c.1107A>G
c.22408A>G (p.Ser7470Gly)
c.17305A>G (p.Ser5769Gly)
c.6598A>G (p.Ser2200Gly)
c.276A>G
c.22513A>G (p.Ser7505Gly)
c.21679A>G (p.Ser7227Gly)
c.19492A>G (p.Ser6498Gly)
c.20221A>G (p.Ser6741Gly)
c.18034A>G (p.Ser6012Gly)
n.7839-9551T>C
n.8214-9551T>C
2g.151524382T>GCA348764836NEB,RIF1c.1851A>C
n.198A>C
c.5259A>C
n.1433A>C
c.1107A>C
c.22408A>C (p.Ser7470Arg)
c.17305A>C (p.Ser5769Arg)
c.6598A>C (p.Ser2200Arg)
c.276A>C
c.22513A>C (p.Ser7505Arg)
c.21679A>C (p.Ser7227Arg)
c.19492A>C (p.Ser6498Arg)
c.20221A>C (p.Ser6741Arg)
c.18034A>C (p.Ser6012Arg)
n.7839-9551T>G
n.8214-9551T>G
2g.151524383G>ACA429450694NEB,RIF1c.1850C>T
n.197C>T
c.5258C>T
n.1432C>T
c.1106C>T
c.22407C>T (p.Gly7469=)
c.17304C>T (p.Gly5768=)
c.6597C>T (p.Gly2199=)
c.275C>T
c.22512C>T (p.Gly7504=)
c.21678C>T (p.Gly7226=)
c.19491C>T (p.Gly6497=)
c.20220C>T (p.Gly6740=)
c.18033C>T (p.Gly6011=)
n.7839-9550G>A
n.8214-9550G>A
 dbSNP
2g.151524383G>CCA429450693NEB,RIF1c.1850C>G
n.197C>G
c.5258C>G
n.1432C>G
c.1106C>G
c.22407C>G (p.Gly7469=)
c.17304C>G (p.Gly5768=)
c.6597C>G (p.Gly2199=)
c.275C>G
c.22512C>G (p.Gly7504=)
c.21678C>G (p.Gly7226=)
c.19491C>G (p.Gly6497=)
c.20220C>G (p.Gly6740=)
c.18033C>G (p.Gly6011=)
n.7839-9550G>C
n.8214-9550G>C
2g.151524383G=CA1298163605NEB,RIF1c.1850C=
n.197C=
c.5258C=
n.1432C=
c.1106C=
c.22407C= (p.Gly7469=)
c.17304C= (p.Gly5768=)
c.6597C= (p.Gly2199=)
c.275C=
c.22512C= (p.Gly7504=)
c.21678C= (p.Gly7226=)
c.19491C= (p.Gly6497=)
c.20220C= (p.Gly6740=)
c.18033C= (p.Gly6011=)
n.7839-9550G=
n.8214-9550G=
2g.151524383G>TCA429450692NEB,RIF1c.1850C>A
n.197C>A
c.5258C>A
n.1432C>A
c.1106C>A
c.22407C>A (p.Gly7469=)
c.17304C>A (p.Gly5768=)
c.6597C>A (p.Gly2199=)
c.275C>A
c.22512C>A (p.Gly7504=)
c.21678C>A (p.Gly7226=)
c.19491C>A (p.Gly6497=)
c.20220C>A (p.Gly6740=)
c.18033C>A (p.Gly6011=)
n.7839-9550G>T
n.8214-9550G>T
2g.151524384C>ACA348764837NEB,RIF1c.1849G>T
n.196G>T
c.5257G>T
n.1431G>T
c.1105G>T
c.22406G>T (p.Gly7469Val)
c.17303G>T (p.Gly5768Val)
c.6596G>T (p.Gly2199Val)
c.274G>T
c.22511G>T (p.Gly7504Val)
c.21677G>T (p.Gly7226Val)
c.19490G>T (p.Gly6497Val)
c.20219G>T (p.Gly6740Val)
c.18032G>T (p.Gly6011Val)
n.7839-9549C>A
n.8214-9549C>A
 dbSNP
2g.151524384C=CA1298163606NEB,RIF1c.1849G=
n.196G=
c.5257G=
n.1431G=
c.1105G=
c.22406G= (p.Gly7469=)
c.17303G= (p.Gly5768=)
c.6596G= (p.Gly2199=)
c.274G=
c.22511G= (p.Gly7504=)
c.21677G= (p.Gly7226=)
c.19490G= (p.Gly6497=)
c.20219G= (p.Gly6740=)
c.18032G= (p.Gly6011=)
n.7839-9549C=
n.8214-9549C=
2g.151524384C>GCA1906655NEB,RIF1c.1849G>C
n.196G>C
c.5257G>C
n.1431G>C
c.1105G>C
c.22406G>C (p.Gly7469Ala)
c.17303G>C (p.Gly5768Ala)
c.6596G>C (p.Gly2199Ala)
c.274G>C
c.22511G>C (p.Gly7504Ala)
c.21677G>C (p.Gly7226Ala)
c.19490G>C (p.Gly6497Ala)
c.20219G>C (p.Gly6740Ala)
c.18032G>C (p.Gly6011Ala)
n.7839-9549C>G
n.8214-9549C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524384C>TCA1906654NEB,RIF1c.1849G>A
n.196G>A
c.5257G>A
n.1431G>A
c.1105G>A
c.22406G>A (p.Gly7469Asp)
c.17303G>A (p.Gly5768Asp)
c.6596G>A (p.Gly2199Asp)
c.274G>A
c.22511G>A (p.Gly7504Asp)
c.21677G>A (p.Gly7226Asp)
c.19490G>A (p.Gly6497Asp)
c.20219G>A (p.Gly6740Asp)
c.18032G>A (p.Gly6011Asp)
n.7839-9549C>T
n.8214-9549C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524385C>ACA348764838NEB,RIF1c.1848G>T
n.195G>T
c.5256G>T
n.1430G>T
c.1104G>T
c.22405G>T (p.Gly7469Cys)
c.17302G>T (p.Gly5768Cys)
c.6595G>T (p.Gly2199Cys)
c.273G>T
c.22510G>T (p.Gly7504Cys)
c.21676G>T (p.Gly7226Cys)
c.19489G>T (p.Gly6497Cys)
c.20218G>T (p.Gly6740Cys)
c.18031G>T (p.Gly6011Cys)
n.7839-9548C>A
n.8214-9548C>A
2g.151524385C=CA1298163607NEB,RIF1c.1848G=
n.195G=
c.5256G=
n.1430G=
c.1104G=
c.22405G= (p.Gly7469=)
c.17302G= (p.Gly5768=)
c.6595G= (p.Gly2199=)
c.273G=
c.22510G= (p.Gly7504=)
c.21676G= (p.Gly7226=)
c.19489G= (p.Gly6497=)
c.20218G= (p.Gly6740=)
c.18031G= (p.Gly6011=)
n.7839-9548C=
n.8214-9548C=
2g.151524385C>GCA348764839NEB,RIF1c.1848G>C
n.195G>C
c.5256G>C
n.1430G>C
c.1104G>C
c.22405G>C (p.Gly7469Arg)
c.17302G>C (p.Gly5768Arg)
c.6595G>C (p.Gly2199Arg)
c.273G>C
c.22510G>C (p.Gly7504Arg)
c.21676G>C (p.Gly7226Arg)
c.19489G>C (p.Gly6497Arg)
c.20218G>C (p.Gly6740Arg)
c.18031G>C (p.Gly6011Arg)
n.7839-9548C>G
n.8214-9548C>G
2g.151524385C>TCA348764840NEB,RIF1c.1848G>A
n.195G>A
c.5256G>A
n.1430G>A
c.1104G>A
c.22405G>A (p.Gly7469Ser)
c.17302G>A (p.Gly5768Ser)
c.6595G>A (p.Gly2199Ser)
c.273G>A
c.22510G>A (p.Gly7504Ser)
c.21676G>A (p.Gly7226Ser)
c.19489G>A (p.Gly6497Ser)
c.20218G>A (p.Gly6740Ser)
c.18031G>A (p.Gly6011Ser)
n.7839-9548C>T
n.8214-9548C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.151524386T>ACA348764841NEB,RIF1c.1847A>T
n.194A>T
c.5255A>T
n.1429A>T
c.1103A>T
c.22404A>T (p.Glu7468Asp)
c.17301A>T (p.Glu5767Asp)
c.6594A>T (p.Glu2198Asp)
c.272A>T
c.22509A>T (p.Glu7503Asp)
c.21675A>T (p.Glu7225Asp)
c.19488A>T (p.Glu6496Asp)
c.20217A>T (p.Glu6739Asp)
c.18030A>T (p.Glu6010Asp)
n.7839-9547T>A
n.8214-9547T>A
2g.151524386T>CCA1906656NEB,RIF1c.1847A>G
n.194A>G
c.5255A>G
n.1429A>G
c.1103A>G
c.22404A>G (p.Glu7468=)
c.17301A>G (p.Glu5767=)
c.6594A>G (p.Glu2198=)
c.272A>G
c.22509A>G (p.Glu7503=)
c.21675A>G (p.Glu7225=)
c.19488A>G (p.Glu6496=)
c.20217A>G (p.Glu6739=)
c.18030A>G (p.Glu6010=)
n.7839-9547T>C
n.8214-9547T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524386T>GCA348764842NEB,RIF1c.1847A>C
n.194A>C
c.5255A>C
n.1429A>C
c.1103A>C
c.22404A>C (p.Glu7468Asp)
c.17301A>C (p.Glu5767Asp)
c.6594A>C (p.Glu2198Asp)
c.272A>C
c.22509A>C (p.Glu7503Asp)
c.21675A>C (p.Glu7225Asp)
c.19488A>C (p.Glu6496Asp)
c.20217A>C (p.Glu6739Asp)
c.18030A>C (p.Glu6010Asp)
n.7839-9547T>G
n.8214-9547T>G
2g.151524386T=CA1298163608NEB,RIF1c.1847A=
n.194A=
c.5255A=
n.1429A=
c.1103A=
c.22404A= (p.Glu7468=)
c.17301A= (p.Glu5767=)
c.6594A= (p.Glu2198=)
c.272A=
c.22509A= (p.Glu7503=)
c.21675A= (p.Glu7225=)
c.19488A= (p.Glu6496=)
c.20217A= (p.Glu6739=)
c.18030A= (p.Glu6010=)
n.7839-9547T=
n.8214-9547T=
2g.151524387T>ACA348764843NEB,RIF1c.1846A>T
n.193A>T
c.5254A>T
n.1428A>T
c.1102A>T
c.22403A>T (p.Glu7468Val)
c.17300A>T (p.Glu5767Val)
c.6593A>T (p.Glu2198Val)
c.271A>T
c.22508A>T (p.Glu7503Val)
c.21674A>T (p.Glu7225Val)
c.19487A>T (p.Glu6496Val)
c.20216A>T (p.Glu6739Val)
c.18029A>T (p.Glu6010Val)
n.7839-9546T>A
n.8214-9546T>A
2g.151524387T>CCA348764844NEB,RIF1c.1846A>G
n.193A>G
c.5254A>G
n.1428A>G
c.1102A>G
c.22403A>G (p.Glu7468Gly)
c.17300A>G (p.Glu5767Gly)
c.6593A>G (p.Glu2198Gly)
c.271A>G
c.22508A>G (p.Glu7503Gly)
c.21674A>G (p.Glu7225Gly)
c.19487A>G (p.Glu6496Gly)
c.20216A>G (p.Glu6739Gly)
c.18029A>G (p.Glu6010Gly)
n.7839-9546T>C
n.8214-9546T>C
2g.151524387T>GCA1906657NEB,RIF1c.1846A>C
n.193A>C
c.5254A>C
n.1428A>C
c.1102A>C
c.22403A>C (p.Glu7468Ala)
c.17300A>C (p.Glu5767Ala)
c.6593A>C (p.Glu2198Ala)
c.271A>C
c.22508A>C (p.Glu7503Ala)
c.21674A>C (p.Glu7225Ala)
c.19487A>C (p.Glu6496Ala)
c.20216A>C (p.Glu6739Ala)
c.18029A>C (p.Glu6010Ala)
n.7839-9546T>G
n.8214-9546T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524387T=CA1298163609NEB,RIF1c.1846A=
n.193A=
c.5254A=
n.1428A=
c.1102A=
c.22403A= (p.Glu7468=)
c.17300A= (p.Glu5767=)
c.6593A= (p.Glu2198=)
c.271A=
c.22508A= (p.Glu7503=)
c.21674A= (p.Glu7225=)
c.19487A= (p.Glu6496=)
c.20216A= (p.Glu6739=)
c.18029A= (p.Glu6010=)
n.7839-9546T=
n.8214-9546T=
2g.151524388C>ACA348764845NEB,RIF1c.1845G>T
n.192G>T
c.5253G>T
n.1427G>T
c.1101G>T
c.22402G>T (p.Glu7468Ter)
c.17299G>T (p.Glu5767Ter)
c.6592G>T (p.Glu2198Ter)
c.270G>T
c.22507G>T (p.Glu7503Ter)
c.21673G>T (p.Glu7225Ter)
c.19486G>T (p.Glu6496Ter)
c.20215G>T (p.Glu6739Ter)
c.18028G>T (p.Glu6010Ter)
n.7839-9545C>A
n.8214-9545C>A
2g.151524388C>GCA348764846NEB,RIF1c.1845G>C
n.192G>C
c.5253G>C
n.1427G>C
c.1101G>C
c.22402G>C (p.Glu7468Gln)
c.17299G>C (p.Glu5767Gln)
c.6592G>C (p.Glu2198Gln)
c.270G>C
c.22507G>C (p.Glu7503Gln)
c.21673G>C (p.Glu7225Gln)
c.19486G>C (p.Glu6496Gln)
c.20215G>C (p.Glu6739Gln)
c.18028G>C (p.Glu6010Gln)
n.7839-9545C>G
n.8214-9545C>G
2g.151524388C>TCA348764847NEB,RIF1c.1845G>A
n.192G>A
c.5253G>A
n.1427G>A
c.1101G>A
c.22402G>A (p.Glu7468Lys)
c.17299G>A (p.Glu5767Lys)
c.6592G>A (p.Glu2198Lys)
c.270G>A
c.22507G>A (p.Glu7503Lys)
c.21673G>A (p.Glu7225Lys)
c.19486G>A (p.Glu6496Lys)
c.20215G>A (p.Glu6739Lys)
c.18028G>A (p.Glu6010Lys)
n.7839-9545C>T
n.8214-9545C>T
 gnomAD v4
2g.151524389C>ACA348764848NEB,RIF1c.1844G>T
n.191G>T
c.5252G>T
n.1426G>T
c.1100G>T
c.22401G>T (p.Lys7467Asn)
c.17298G>T (p.Lys5766Asn)
c.6591G>T (p.Lys2197Asn)
c.269G>T
c.22506G>T (p.Lys7502Asn)
c.21672G>T (p.Lys7224Asn)
c.19485G>T (p.Lys6495Asn)
c.20214G>T (p.Lys6738Asn)
c.18027G>T (p.Lys6009Asn)
n.7839-9544C>A
n.8214-9544C>A
2g.151524389C>GCA348764849NEB,RIF1c.1844G>C
n.191G>C
c.5252G>C
n.1426G>C
c.1100G>C
c.22401G>C (p.Lys7467Asn)
c.17298G>C (p.Lys5766Asn)
c.6591G>C (p.Lys2197Asn)
c.269G>C
c.22506G>C (p.Lys7502Asn)
c.21672G>C (p.Lys7224Asn)
c.19485G>C (p.Lys6495Asn)
c.20214G>C (p.Lys6738Asn)
c.18027G>C (p.Lys6009Asn)
n.7839-9544C>G
n.8214-9544C>G
2g.151524389C>TCA429450695NEB,RIF1c.1844G>A
n.191G>A
c.5252G>A
n.1426G>A
c.1100G>A
c.22401G>A (p.Lys7467=)
c.17298G>A (p.Lys5766=)
c.6591G>A (p.Lys2197=)
c.269G>A
c.22506G>A (p.Lys7502=)
c.21672G>A (p.Lys7224=)
c.19485G>A (p.Lys6495=)
c.20214G>A (p.Lys6738=)
c.18027G>A (p.Lys6009=)
n.7839-9544C>T
n.8214-9544C>T
 ClinVar dbSNP
2g.151524390T>ACA348764851NEB,RIF1c.1843A>T
n.190A>T
c.5251A>T
n.1425A>T
c.1099A>T
c.22400A>T (p.Lys7467Met)
c.17297A>T (p.Lys5766Met)
c.6590A>T (p.Lys2197Met)
c.268A>T
c.22505A>T (p.Lys7502Met)
c.21671A>T (p.Lys7224Met)
c.19484A>T (p.Lys6495Met)
c.20213A>T (p.Lys6738Met)
c.18026A>T (p.Lys6009Met)
n.7839-9543T>A
n.8214-9543T>A
2g.151524390T>CCA348764852NEB,RIF1c.1843A>G
n.190A>G
c.5251A>G
n.1425A>G
c.1099A>G
c.22400A>G (p.Lys7467Arg)
c.17297A>G (p.Lys5766Arg)
c.6590A>G (p.Lys2197Arg)
c.268A>G
c.22505A>G (p.Lys7502Arg)
c.21671A>G (p.Lys7224Arg)
c.19484A>G (p.Lys6495Arg)
c.20213A>G (p.Lys6738Arg)
c.18026A>G (p.Lys6009Arg)
n.7839-9543T>C
n.8214-9543T>C
2g.151524390T>GCA348764850NEB,RIF1c.1843A>C
n.190A>C
c.5251A>C
n.1425A>C
c.1099A>C
c.22400A>C (p.Lys7467Thr)
c.17297A>C (p.Lys5766Thr)
c.6590A>C (p.Lys2197Thr)
c.268A>C
c.22505A>C (p.Lys7502Thr)
c.21671A>C (p.Lys7224Thr)
c.19484A>C (p.Lys6495Thr)
c.20213A>C (p.Lys6738Thr)
c.18026A>C (p.Lys6009Thr)
n.7839-9543T>G
n.8214-9543T>G
2g.151524391T>ACA348764853NEB,RIF1c.1842A>T
n.189A>T
c.5250A>T
n.1424A>T
c.1098A>T
c.22399A>T (p.Lys7467Ter)
c.17296A>T (p.Lys5766Ter)
c.6589A>T (p.Lys2197Ter)
c.267A>T
c.22504A>T (p.Lys7502Ter)
c.21670A>T (p.Lys7224Ter)
c.19483A>T (p.Lys6495Ter)
c.20212A>T (p.Lys6738Ter)
c.18025A>T (p.Lys6009Ter)
n.7839-9542T>A
n.8214-9542T>A
2g.151524391T>CCA348764854NEB,RIF1c.1842A>G
n.189A>G
c.5250A>G
n.1424A>G
c.1098A>G
c.22399A>G (p.Lys7467Glu)
c.17296A>G (p.Lys5766Glu)
c.6589A>G (p.Lys2197Glu)
c.267A>G
c.22504A>G (p.Lys7502Glu)
c.21670A>G (p.Lys7224Glu)
c.19483A>G (p.Lys6495Glu)
c.20212A>G (p.Lys6738Glu)
c.18025A>G (p.Lys6009Glu)
n.7839-9542T>C
n.8214-9542T>C
2g.151524391T>GCA348764855NEB,RIF1c.1842A>C
n.189A>C
c.5250A>C
n.1424A>C
c.1098A>C
c.22399A>C (p.Lys7467Gln)
c.17296A>C (p.Lys5766Gln)
c.6589A>C (p.Lys2197Gln)
c.267A>C
c.22504A>C (p.Lys7502Gln)
c.21670A>C (p.Lys7224Gln)
c.19483A>C (p.Lys6495Gln)
c.20212A>C (p.Lys6738Gln)
c.18025A>C (p.Lys6009Gln)
n.7839-9542T>G
n.8214-9542T>G
2g.151524392G>ACA429450696NEB,RIF1c.1841C>T
n.188C>T
c.5249C>T
n.1423C>T
c.1097C>T
c.22398C>T (p.Arg7466=)
c.17295C>T (p.Arg5765=)
c.6588C>T (p.Arg2196=)
c.266C>T
c.22503C>T (p.Arg7501=)
c.21669C>T (p.Arg7223=)
c.19482C>T (p.Arg6494=)
c.20211C>T (p.Arg6737=)
c.18024C>T (p.Arg6008=)
n.7839-9541G>A
n.8214-9541G>A
2g.151524392G>CCA429450697NEB,RIF1c.1841C>G
n.188C>G
c.5249C>G
n.1423C>G
c.1097C>G
c.22398C>G (p.Arg7466=)
c.17295C>G (p.Arg5765=)
c.6588C>G (p.Arg2196=)
c.266C>G
c.22503C>G (p.Arg7501=)
c.21669C>G (p.Arg7223=)
c.19482C>G (p.Arg6494=)
c.20211C>G (p.Arg6737=)
c.18024C>G (p.Arg6008=)
n.7839-9541G>C
n.8214-9541G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.151524392G=CA1298163610NEB,RIF1c.1841C=
n.188C=
c.5249C=
n.1423C=
c.1097C=
c.22398C= (p.Arg7466=)
c.17295C= (p.Arg5765=)
c.6588C= (p.Arg2196=)
c.266C=
c.22503C= (p.Arg7501=)
c.21669C= (p.Arg7223=)
c.19482C= (p.Arg6494=)
c.20211C= (p.Arg6737=)
c.18024C= (p.Arg6008=)
n.7839-9541G=
n.8214-9541G=
2g.151524392G>TCA429450698NEB,RIF1c.1841C>A
n.188C>A
c.5249C>A
n.1423C>A
c.1097C>A
c.22398C>A (p.Arg7466=)
c.17295C>A (p.Arg5765=)
c.6588C>A (p.Arg2196=)
c.266C>A
c.22503C>A (p.Arg7501=)
c.21669C>A (p.Arg7223=)
c.19482C>A (p.Arg6494=)
c.20211C>A (p.Arg6737=)
c.18024C>A (p.Arg6008=)
n.7839-9541G>T
n.8214-9541G>T
2g.151524393C>ACA348764856NEB,RIF1c.1840G>T
n.187G>T
c.5248G>T
n.1422G>T
c.1096G>T
c.22397G>T (p.Arg7466Leu)
c.17294G>T (p.Arg5765Leu)
c.6587G>T (p.Arg2196Leu)
c.265G>T
c.22502G>T (p.Arg7501Leu)
c.21668G>T (p.Arg7223Leu)
c.19481G>T (p.Arg6494Leu)
c.20210G>T (p.Arg6737Leu)
c.18023G>T (p.Arg6008Leu)
n.7839-9540C>A
n.8214-9540C>A
2g.151524393C=CA1298163611NEB,RIF1c.1840G=
n.187G=
c.5248G=
n.1422G=
c.1096G=
c.22397G= (p.Arg7466=)
c.17294G= (p.Arg5765=)
c.6587G= (p.Arg2196=)
c.265G=
c.22502G= (p.Arg7501=)
c.21668G= (p.Arg7223=)
c.19481G= (p.Arg6494=)
c.20210G= (p.Arg6737=)
c.18023G= (p.Arg6008=)
n.7839-9540C=
n.8214-9540C=
2g.151524393C>GCA348764857NEB,RIF1c.1840G>C
n.187G>C
c.5248G>C
n.1422G>C
c.1096G>C
c.22397G>C (p.Arg7466Pro)
c.17294G>C (p.Arg5765Pro)
c.6587G>C (p.Arg2196Pro)
c.265G>C
c.22502G>C (p.Arg7501Pro)
c.21668G>C (p.Arg7223Pro)
c.19481G>C (p.Arg6494Pro)
c.20210G>C (p.Arg6737Pro)
c.18023G>C (p.Arg6008Pro)
n.7839-9540C>G
n.8214-9540C>G
2g.151524393C>TCA1906658NEB,RIF1c.1840G>A
n.187G>A
c.5248G>A
n.1422G>A
c.1096G>A
c.22397G>A (p.Arg7466His)
c.17294G>A (p.Arg5765His)
c.6587G>A (p.Arg2196His)
c.265G>A
c.22502G>A (p.Arg7501His)
c.21668G>A (p.Arg7223His)
c.19481G>A (p.Arg6494His)
c.20210G>A (p.Arg6737His)
c.18023G>A (p.Arg6008His)
n.7839-9540C>T
n.8214-9540C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151524394G>ACA1906659NEB,RIF1c.1839C>T
n.186C>T
c.5247C>T
n.1421C>T
c.1095C>T
c.22396C>T (p.Arg7466Cys)
c.17293C>T (p.Arg5765Cys)
c.6586C>T (p.Arg2196Cys)
c.264C>T
c.22501C>T (p.Arg7501Cys)
c.21667C>T (p.Arg7223Cys)
c.19480C>T (p.Arg6494Cys)
c.20209C>T (p.Arg6737Cys)
c.18022C>T (p.Arg6008Cys)
n.7839-9539G>A
n.8214-9539G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151524394G>CCA348764858NEB,RIF1c.1839C>G
n.186C>G
c.5247C>G
n.1421C>G
c.1095C>G
c.22396C>G (p.Arg7466Gly)
c.17293C>G (p.Arg5765Gly)
c.6586C>G (p.Arg2196Gly)
c.264C>G
c.22501C>G (p.Arg7501Gly)
c.21667C>G (p.Arg7223Gly)
c.19480C>G (p.Arg6494Gly)
c.20209C>G (p.Arg6737Gly)
c.18022C>G (p.Arg6008Gly)
n.7839-9539G>C
n.8214-9539G>C
 dbSNP gnomAD v2 gnomAD v4
2g.151524394G=CA1298163612NEB,RIF1c.1839C=
n.186C=
c.5247C=
n.1421C=
c.1095C=
c.22396C= (p.Arg7466=)
c.17293C= (p.Arg5765=)
c.6586C= (p.Arg2196=)
c.264C=
c.22501C= (p.Arg7501=)
c.21667C= (p.Arg7223=)
c.19480C= (p.Arg6494=)
c.20209C= (p.Arg6737=)
c.18022C= (p.Arg6008=)
n.7839-9539G=
n.8214-9539G=
2g.151524394G>TCA348764859NEB,RIF1c.1839C>A
n.186C>A
c.5247C>A
n.1421C>A
c.1095C>A
c.22396C>A (p.Arg7466Ser)
c.17293C>A (p.Arg5765Ser)
c.6586C>A (p.Arg2196Ser)
c.264C>A
c.22501C>A (p.Arg7501Ser)
c.21667C>A (p.Arg7223Ser)
c.19480C>A (p.Arg6494Ser)
c.20209C>A (p.Arg6737Ser)
c.18022C>A (p.Arg6008Ser)
n.7839-9539G>T
n.8214-9539G>T
2g.151524395G>ACA429450699NEB,RIF1c.1838C>T
n.185C>T
c.5246C>T
n.1420C>T
c.1094C>T
c.22395C>T (p.His7465=)
c.17292C>T (p.His5764=)
c.6585C>T (p.His2195=)
c.263C>T
c.22500C>T (p.His7500=)
c.21666C>T (p.His7222=)
c.19479C>T (p.His6493=)
c.20208C>T (p.His6736=)
c.18021C>T (p.His6007=)
n.7839-9538G>A
n.8214-9538G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.151524395G>CCA348764860NEB,RIF1c.1838C>G
n.185C>G
c.5246C>G
n.1420C>G
c.1094C>G
c.22395C>G (p.His7465Gln)
c.17292C>G (p.His5764Gln)
c.6585C>G (p.His2195Gln)
c.263C>G
c.22500C>G (p.His7500Gln)
c.21666C>G (p.His7222Gln)
c.19479C>G (p.His6493Gln)
c.20208C>G (p.His6736Gln)
c.18021C>G (p.His6007Gln)
n.7839-9538G>C
n.8214-9538G>C
2g.151524395G=CA1298163613NEB,RIF1c.1838C=
n.185C=
c.5246C=
n.1420C=
c.1094C=
c.22395C= (p.His7465=)
c.17292C= (p.His5764=)
c.6585C= (p.His2195=)
c.263C=
c.22500C= (p.His7500=)
c.21666C= (p.His7222=)
c.19479C= (p.His6493=)
c.20208C= (p.His6736=)
c.18021C= (p.His6007=)
n.7839-9538G=
n.8214-9538G=
2g.151524395G>TCA348764861NEB,RIF1c.1838C>A
n.185C>A
c.5246C>A
n.1420C>A
c.1094C>A
c.22395C>A (p.His7465Gln)
c.17292C>A (p.His5764Gln)
c.6585C>A (p.His2195Gln)
c.263C>A
c.22500C>A (p.His7500Gln)
c.21666C>A (p.His7222Gln)
c.19479C>A (p.His6493Gln)
c.20208C>A (p.His6736Gln)
c.18021C>A (p.His6007Gln)
n.7839-9538G>T
n.8214-9538G>T
 dbSNP gnomAD v2 gnomAD v4
2g.151524396T>ACA348764862NEB,RIF1c.1837A>T
n.184A>T
c.5245A>T
n.1419A>T
c.1093A>T
c.22394A>T (p.His7465Leu)
c.17291A>T (p.His5764Leu)
c.6584A>T (p.His2195Leu)
c.262A>T
c.22499A>T (p.His7500Leu)
c.21665A>T (p.His7222Leu)
c.19478A>T (p.His6493Leu)
c.20207A>T (p.His6736Leu)
c.18020A>T (p.His6007Leu)
n.7839-9537T>A
n.8214-9537T>A
2g.151524396T>CCA348764863NEB,RIF1c.1837A>G
n.184A>G
c.5245A>G
n.1419A>G
c.1093A>G
c.22394A>G (p.His7465Arg)
c.17291A>G (p.His5764Arg)
c.6584A>G (p.His2195Arg)
c.262A>G
c.22499A>G (p.His7500Arg)
c.21665A>G (p.His7222Arg)
c.19478A>G (p.His6493Arg)
c.20207A>G (p.His6736Arg)
c.18020A>G (p.His6007Arg)
n.7839-9537T>C
n.8214-9537T>C
2g.151524396T>GCA348764864NEB,RIF1c.1837A>C
n.184A>C
c.5245A>C
n.1419A>C
c.1093A>C
c.22394A>C (p.His7465Pro)
c.17291A>C (p.His5764Pro)
c.6584A>C (p.His2195Pro)
c.262A>C
c.22499A>C (p.His7500Pro)
c.21665A>C (p.His7222Pro)
c.19478A>C (p.His6493Pro)
c.20207A>C (p.His6736Pro)
c.18020A>C (p.His6007Pro)
n.7839-9537T>G
n.8214-9537T>G
2g.151524397G>ACA348764867NEB,RIF1c.1836C>T
n.183C>T
c.5244C>T
n.1418C>T
c.1092C>T
c.22393C>T (p.His7465Tyr)
c.17290C>T (p.His5764Tyr)
c.6583C>T (p.His2195Tyr)
c.261C>T
c.22498C>T (p.His7500Tyr)
c.21664C>T (p.His7222Tyr)
c.19477C>T (p.His6493Tyr)
c.20206C>T (p.His6736Tyr)
c.18019C>T (p.His6007Tyr)
n.7839-9536G>A
n.8214-9536G>A
 gnomAD v4
2g.151524397G>CCA348764865NEB,RIF1c.1836C>G
n.183C>G
c.5244C>G
n.1418C>G
c.1092C>G
c.22393C>G (p.His7465Asp)
c.17290C>G (p.His5764Asp)
c.6583C>G (p.His2195Asp)
c.261C>G
c.22498C>G (p.His7500Asp)
c.21664C>G (p.His7222Asp)
c.19477C>G (p.His6493Asp)
c.20206C>G (p.His6736Asp)
c.18019C>G (p.His6007Asp)
n.7839-9536G>C
n.8214-9536G>C
2g.151524397G>TCA348764866NEB,RIF1c.1836C>A
n.183C>A
c.5244C>A
n.1418C>A
c.1092C>A
c.22393C>A (p.His7465Asn)
c.17290C>A (p.His5764Asn)
c.6583C>A (p.His2195Asn)
c.261C>A
c.22498C>A (p.His7500Asn)
c.21664C>A (p.His7222Asn)
c.19477C>A (p.His6493Asn)
c.20206C>A (p.His6736Asn)
c.18019C>A (p.His6007Asn)
n.7839-9536G>T
n.8214-9536G>T
2g.151524398C>ACA348764868NEB,RIF1c.1835G>T
n.182G>T
c.5243G>T
n.1417G>T
c.1091G>T
c.22392G>T (p.Lys7464Asn)
c.17289G>T (p.Lys5763Asn)
c.6582G>T (p.Lys2194Asn)
c.260G>T
c.22497G>T (p.Lys7499Asn)
c.21663G>T (p.Lys7221Asn)
c.19476G>T (p.Lys6492Asn)
c.20205G>T (p.Lys6735Asn)
c.18018G>T (p.Lys6006Asn)
n.7839-9535C>A
n.8214-9535C>A
2g.151524398C=CA1298163614NEB,RIF1c.1835G=
n.182G=
c.5243G=
n.1417G=
c.1091G=
c.22392G= (p.Lys7464=)
c.17289G= (p.Lys5763=)
c.6582G= (p.Lys2194=)
c.260G=
c.22497G= (p.Lys7499=)
c.21663G= (p.Lys7221=)
c.19476G= (p.Lys6492=)
c.20205G= (p.Lys6735=)
c.18018G= (p.Lys6006=)
n.7839-9535C=
n.8214-9535C=
2g.151524398C>GCA348764869NEB,RIF1c.1835G>C
n.182G>C
c.5243G>C
n.1417G>C
c.1091G>C
c.22392G>C (p.Lys7464Asn)
c.17289G>C (p.Lys5763Asn)
c.6582G>C (p.Lys2194Asn)
c.260G>C
c.22497G>C (p.Lys7499Asn)
c.21663G>C (p.Lys7221Asn)
c.19476G>C (p.Lys6492Asn)
c.20205G>C (p.Lys6735Asn)
c.18018G>C (p.Lys6006Asn)
n.7839-9535C>G
n.8214-9535C>G
2g.151524398C>TCA1906660NEB,RIF1c.1835G>A
n.182G>A
c.5243G>A
n.1417G>A
c.1091G>A
c.22392G>A (p.Lys7464=)
c.17289G>A (p.Lys5763=)
c.6582G>A (p.Lys2194=)
c.260G>A
c.22497G>A (p.Lys7499=)
c.21663G>A (p.Lys7221=)
c.19476G>A (p.Lys6492=)
c.20205G>A (p.Lys6735=)
c.18018G>A (p.Lys6006=)
n.7839-9535C>T
n.8214-9535C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151524399T>ACA348764870NEB,RIF1c.1834A>T
n.181A>T
c.5242A>T
n.1416A>T
c.1090A>T
c.22391A>T (p.Lys7464Met)
c.17288A>T (p.Lys5763Met)
c.6581A>T (p.Lys2194Met)
c.259A>T
c.22496A>T (p.Lys7499Met)
c.21662A>T (p.Lys7221Met)
c.19475A>T (p.Lys6492Met)
c.20204A>T (p.Lys6735Met)
c.18017A>T (p.Lys6006Met)
n.7839-9534T>A
n.8214-9534T>A
 gnomAD v4
2g.151524399T>CCA348764871NEB,RIF1c.1834A>G
n.181A>G
c.5242A>G
n.1416A>G
c.1090A>G
c.22391A>G (p.Lys7464Arg)
c.17288A>G (p.Lys5763Arg)
c.6581A>G (p.Lys2194Arg)
c.259A>G
c.22496A>G (p.Lys7499Arg)
c.21662A>G (p.Lys7221Arg)
c.19475A>G (p.Lys6492Arg)
c.20204A>G (p.Lys6735Arg)
c.18017A>G (p.Lys6006Arg)
n.7839-9534T>C
n.8214-9534T>C
2g.151524399T>GCA348764872NEB,RIF1c.1834A>C
n.181A>C
c.5242A>C
n.1416A>C
c.1090A>C
c.22391A>C (p.Lys7464Thr)
c.17288A>C (p.Lys5763Thr)
c.6581A>C (p.Lys2194Thr)
c.259A>C
c.22496A>C (p.Lys7499Thr)
c.21662A>C (p.Lys7221Thr)
c.19475A>C (p.Lys6492Thr)
c.20204A>C (p.Lys6735Thr)
c.18017A>C (p.Lys6006Thr)
n.7839-9534T>G
n.8214-9534T>G
2g.151524400T>ACA348764873NEB,RIF1c.1833A>T
n.180A>T
c.5241A>T
n.1415A>T
c.1089A>T
c.22390A>T (p.Lys7464Ter)
c.17287A>T (p.Lys5763Ter)
c.6580A>T (p.Lys2194Ter)
c.258A>T
c.22495A>T (p.Lys7499Ter)
c.21661A>T (p.Lys7221Ter)
c.19474A>T (p.Lys6492Ter)
c.20203A>T (p.Lys6735Ter)
c.18016A>T (p.Lys6006Ter)
n.7839-9533T>A
n.8214-9533T>A
2g.151524400T>CCA348764874NEB,RIF1c.1833A>G
n.180A>G
c.5241A>G
n.1415A>G
c.1089A>G
c.22390A>G (p.Lys7464Glu)
c.17287A>G (p.Lys5763Glu)
c.6580A>G (p.Lys2194Glu)
c.258A>G
c.22495A>G (p.Lys7499Glu)
c.21661A>G (p.Lys7221Glu)
c.19474A>G (p.Lys6492Glu)
c.20203A>G (p.Lys6735Glu)
c.18016A>G (p.Lys6006Glu)
n.7839-9533T>C
n.8214-9533T>C
2g.151524400T>GCA348764875NEB,RIF1c.1833A>C
n.180A>C
c.5241A>C
n.1415A>C
c.1089A>C
c.22390A>C (p.Lys7464Gln)
c.17287A>C (p.Lys5763Gln)
c.6580A>C (p.Lys2194Gln)
c.258A>C
c.22495A>C (p.Lys7499Gln)
c.21661A>C (p.Lys7221Gln)
c.19474A>C (p.Lys6492Gln)
c.20203A>C (p.Lys6735Gln)
c.18016A>C (p.Lys6006Gln)
n.7839-9533T>G
n.8214-9533T>G
2g.151524401G>ACA1906661NEB,RIF1c.1832C>T
n.179C>T
c.5240C>T
n.1414C>T
c.1088C>T
c.22389C>T (p.Ala7463=)
c.17286C>T (p.Ala5762=)
c.6579C>T (p.Ala2193=)
c.257C>T
c.22494C>T (p.Ala7498=)
c.21660C>T (p.Ala7220=)
c.19473C>T (p.Ala6491=)
c.20202C>T (p.Ala6734=)
c.18015C>T (p.Ala6005=)
n.7839-9532G>A
n.8214-9532G>A
 ClinVar dbSNP ExAC
2g.151524401G>CCA429450701NEB,RIF1c.1832C>G
n.179C>G
c.5240C>G
n.1414C>G
c.1088C>G
c.22389C>G (p.Ala7463=)
c.17286C>G (p.Ala5762=)
c.6579C>G (p.Ala2193=)
c.257C>G
c.22494C>G (p.Ala7498=)
c.21660C>G (p.Ala7220=)
c.19473C>G (p.Ala6491=)
c.20202C>G (p.Ala6734=)
c.18015C>G (p.Ala6005=)
n.7839-9532G>C
n.8214-9532G>C
2g.151524401G=CA1298163615NEB,RIF1c.1832C=
n.179C=
c.5240C=
n.1414C=
c.1088C=
c.22389C= (p.Ala7463=)
c.17286C= (p.Ala5762=)
c.6579C= (p.Ala2193=)
c.257C=
c.22494C= (p.Ala7498=)
c.21660C= (p.Ala7220=)
c.19473C= (p.Ala6491=)
c.20202C= (p.Ala6734=)
c.18015C= (p.Ala6005=)
n.7839-9532G=
n.8214-9532G=
2g.151524401G>TCA429450700NEB,RIF1c.1832C>A
n.179C>A
c.5240C>A
n.1414C>A
c.1088C>A
c.22389C>A (p.Ala7463=)
c.17286C>A (p.Ala5762=)
c.6579C>A (p.Ala2193=)
c.257C>A
c.22494C>A (p.Ala7498=)
c.21660C>A (p.Ala7220=)
c.19473C>A (p.Ala6491=)
c.20202C>A (p.Ala6734=)
c.18015C>A (p.Ala6005=)
n.7839-9532G>T
n.8214-9532G>T
2g.151524402delCA2695196983NEB,RIF1c.1832del
n.179del
c.5240del
n.1414del
c.1088del
c.22389del (p.Lys7464SerfsTer10)
c.17286del (p.Lys5763SerfsTer10)
c.6579del (p.Lys2194SerfsTer10)
c.257del
c.22494del (p.Lys7499SerfsTer10)
c.21660del (p.Lys7221SerfsTer10)
c.19473del (p.Lys6492SerfsTer10)
c.20202del (p.Lys6735SerfsTer10)
c.18015del (p.Lys6006SerfsTer10)
n.7839-9531del
n.8214-9531del
 ClinVar
2g.151524402G>ACA348764876NEB,RIF1c.1831C>T
n.178C>T
c.5239C>T
n.1413C>T
c.1087C>T
c.22388C>T (p.Ala7463Val)
c.17285C>T (p.Ala5762Val)
c.6578C>T (p.Ala2193Val)
c.256C>T
c.22493C>T (p.Ala7498Val)
c.21659C>T (p.Ala7220Val)
c.19472C>T (p.Ala6491Val)
c.20201C>T (p.Ala6734Val)
c.18014C>T (p.Ala6005Val)
n.7839-9531G>A
n.8214-9531G>A
2g.151524402G>CCA348764877NEB,RIF1c.1831C>G
n.178C>G
c.5239C>G
n.1413C>G
c.1087C>G
c.22388C>G (p.Ala7463Gly)
c.17285C>G (p.Ala5762Gly)
c.6578C>G (p.Ala2193Gly)
c.256C>G
c.22493C>G (p.Ala7498Gly)
c.21659C>G (p.Ala7220Gly)
c.19472C>G (p.Ala6491Gly)
c.20201C>G (p.Ala6734Gly)
c.18014C>G (p.Ala6005Gly)
n.7839-9531G>C
n.8214-9531G>C
2g.151524402G>TCA348764878NEB,RIF1c.1831C>A
n.178C>A
c.5239C>A
n.1413C>A
c.1087C>A
c.22388C>A (p.Ala7463Asp)
c.17285C>A (p.Ala5762Asp)
c.6578C>A (p.Ala2193Asp)
c.256C>A
c.22493C>A (p.Ala7498Asp)
c.21659C>A (p.Ala7220Asp)
c.19472C>A (p.Ala6491Asp)
c.20201C>A (p.Ala6734Asp)
c.18014C>A (p.Ala6005Asp)
n.7839-9531G>T
n.8214-9531G>T
2g.151524403C>ACA348764879NEB,RIF1c.1830G>T
n.177G>T
c.5238G>T
n.1412G>T
c.1086G>T
c.22387G>T (p.Ala7463Ser)
c.17284G>T (p.Ala5762Ser)
c.6577G>T (p.Ala2193Ser)
c.255G>T
c.22492G>T (p.Ala7498Ser)
c.21658G>T (p.Ala7220Ser)
c.19471G>T (p.Ala6491Ser)
c.20200G>T (p.Ala6734Ser)
c.18013G>T (p.Ala6005Ser)
n.7839-9530C>A
n.8214-9530C>A
2g.151524403C=CA1298163616NEB,RIF1c.1830G=
n.177G=
c.5238G=
n.1412G=
c.1086G=
c.22387G= (p.Ala7463=)
c.17284G= (p.Ala5762=)
c.6577G= (p.Ala2193=)
c.255G=
c.22492G= (p.Ala7498=)
c.21658G= (p.Ala7220=)
c.19471G= (p.Ala6491=)
c.20200G= (p.Ala6734=)
c.18013G= (p.Ala6005=)
n.7839-9530C=
n.8214-9530C=
2g.151524403C>GCA348764881NEB,RIF1c.1830G>C
n.177G>C
c.5238G>C
n.1412G>C
c.1086G>C
c.22387G>C (p.Ala7463Pro)
c.17284G>C (p.Ala5762Pro)
c.6577G>C (p.Ala2193Pro)
c.255G>C
c.22492G>C (p.Ala7498Pro)
c.21658G>C (p.Ala7220Pro)
c.19471G>C (p.Ala6491Pro)
c.20200G>C (p.Ala6734Pro)
c.18013G>C (p.Ala6005Pro)
n.7839-9530C>G
n.8214-9530C>G
 dbSNP gnomAD v2 gnomAD v4
2g.151524403C>TCA348764880NEB,RIF1c.1830G>A
n.177G>A
c.5238G>A
n.1412G>A
c.1086G>A
c.22387G>A (p.Ala7463Thr)
c.17284G>A (p.Ala5762Thr)
c.6577G>A (p.Ala2193Thr)
c.255G>A
c.22492G>A (p.Ala7498Thr)
c.21658G>A (p.Ala7220Thr)
c.19471G>A (p.Ala6491Thr)
c.20200G>A (p.Ala6734Thr)
c.18013G>A (p.Ala6005Thr)
n.7839-9530C>T
n.8214-9530C>T
 dbSNP
2g.151524404T>ACA348764882NEB,RIF1c.1829A>T
n.176A>T
c.5237A>T
n.1411A>T
c.1085A>T
c.22386A>T (p.Arg7462Ser)
c.17283A>T (p.Arg5761Ser)
c.6576A>T (p.Arg2192Ser)
c.254A>T
c.22491A>T (p.Arg7497Ser)
c.21657A>T (p.Arg7219Ser)
c.19470A>T (p.Arg6490Ser)
c.20199A>T (p.Arg6733Ser)
c.18012A>T (p.Arg6004Ser)
n.7839-9529T>A
n.8214-9529T>A
2g.151524404T>CCA429450702NEB,RIF1c.1829A>G
n.176A>G
c.5237A>G
n.1411A>G
c.1085A>G
c.22386A>G (p.Arg7462=)
c.17283A>G (p.Arg5761=)
c.6576A>G (p.Arg2192=)
c.254A>G
c.22491A>G (p.Arg7497=)
c.21657A>G (p.Arg7219=)
c.19470A>G (p.Arg6490=)
c.20199A>G (p.Arg6733=)
c.18012A>G (p.Arg6004=)
n.7839-9529T>C
n.8214-9529T>C
2g.151524404T>GCA348764883NEB,RIF1c.1829A>C
n.176A>C
c.5237A>C
n.1411A>C
c.1085A>C
c.22386A>C (p.Arg7462Ser)
c.17283A>C (p.Arg5761Ser)
c.6576A>C (p.Arg2192Ser)
c.254A>C
c.22491A>C (p.Arg7497Ser)
c.21657A>C (p.Arg7219Ser)
c.19470A>C (p.Arg6490Ser)
c.20199A>C (p.Arg6733Ser)
c.18012A>C (p.Arg6004Ser)
n.7839-9529T>G
n.8214-9529T>G
2g.151524405C>ACA348764884NEB,RIF1c.1828G>T
n.175G>T
c.5236G>T
n.1410G>T
c.1084G>T
c.22385G>T (p.Arg7462Ile)
c.17282G>T (p.Arg5761Ile)
c.6575G>T (p.Arg2192Ile)
c.253G>T
c.22490G>T (p.Arg7497Ile)
c.21656G>T (p.Arg7219Ile)
c.19469G>T (p.Arg6490Ile)
c.20198G>T (p.Arg6733Ile)
c.18011G>T (p.Arg6004Ile)
n.7839-9528C>A
n.8214-9528C>A
 COSMIC COSMIC
2g.151524405C>GCA348764885NEB,RIF1c.1828G>C
n.175G>C
c.5236G>C
n.1410G>C
c.1084G>C
c.22385G>C (p.Arg7462Thr)
c.17282G>C (p.Arg5761Thr)
c.6575G>C (p.Arg2192Thr)
c.253G>C
c.22490G>C (p.Arg7497Thr)
c.21656G>C (p.Arg7219Thr)
c.19469G>C (p.Arg6490Thr)
c.20198G>C (p.Arg6733Thr)
c.18011G>C (p.Arg6004Thr)
n.7839-9528C>G
n.8214-9528C>G
2g.151524405C>TCA348764886NEB,RIF1c.1828G>A
n.175G>A
c.5236G>A
n.1410G>A
c.1084G>A
c.22385G>A (p.Arg7462Lys)
c.17282G>A (p.Arg5761Lys)
c.6575G>A (p.Arg2192Lys)
c.253G>A
c.22490G>A (p.Arg7497Lys)
c.21656G>A (p.Arg7219Lys)
c.19469G>A (p.Arg6490Lys)
c.20198G>A (p.Arg6733Lys)
c.18011G>A (p.Arg6004Lys)
n.7839-9528C>T
n.8214-9528C>T
2g.151524406T>ACA348764887NEB,RIF1c.1827A>T
n.174A>T
c.5235A>T
n.1409A>T
c.1083A>T
c.22384A>T (p.Arg7462Ter)
c.17281A>T (p.Arg5761Ter)
c.6574A>T (p.Arg2192Ter)
c.252A>T
c.22489A>T (p.Arg7497Ter)
c.21655A>T (p.Arg7219Ter)
c.19468A>T (p.Arg6490Ter)
c.20197A>T (p.Arg6733Ter)
c.18010A>T (p.Arg6004Ter)
n.7839-9527T>A
n.8214-9527T>A
2g.151524406T>CCA348764888NEB,RIF1c.1827A>G
n.174A>G
c.5235A>G
n.1409A>G
c.1083A>G
c.22384A>G (p.Arg7462Gly)
c.17281A>G (p.Arg5761Gly)
c.6574A>G (p.Arg2192Gly)
c.252A>G
c.22489A>G (p.Arg7497Gly)
c.21655A>G (p.Arg7219Gly)
c.19468A>G (p.Arg6490Gly)
c.20197A>G (p.Arg6733Gly)
c.18010A>G (p.Arg6004Gly)
n.7839-9527T>C
n.8214-9527T>C
2g.151524406T>GCA429450703NEB,RIF1c.1827A>C
n.174A>C
c.5235A>C
n.1409A>C
c.1083A>C
c.22384A>C (p.Arg7462=)
c.17281A>C (p.Arg5761=)
c.6574A>C (p.Arg2192=)
c.252A>C
c.22489A>C (p.Arg7497=)
c.21655A>C (p.Arg7219=)
c.19468A>C (p.Arg6490=)
c.20197A>C (p.Arg6733=)
c.18010A>C (p.Arg6004=)
n.7839-9527T>G
n.8214-9527T>G
2g.151524407G>ACA1906662NEB,RIF1c.1826C>T
n.173C>T
c.5234C>T
n.1408C>T
c.1082C>T
c.22383C>T (p.Tyr7461=)
c.17280C>T (p.Tyr5760=)
c.6573C>T (p.Tyr2191=)
c.251C>T
c.22488C>T (p.Tyr7496=)
c.21654C>T (p.Tyr7218=)
c.19467C>T (p.Tyr6489=)
c.20196C>T (p.Tyr6732=)
c.18009C>T (p.Tyr6003=)
n.7839-9526G>A
n.8214-9526G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524407G>CCA348764889NEB,RIF1c.1826C>G
n.173C>G
c.5234C>G
n.1408C>G
c.1082C>G
c.22383C>G (p.Tyr7461Ter)
c.17280C>G (p.Tyr5760Ter)
c.6573C>G (p.Tyr2191Ter)
c.251C>G
c.22488C>G (p.Tyr7496Ter)
c.21654C>G (p.Tyr7218Ter)
c.19467C>G (p.Tyr6489Ter)
c.20196C>G (p.Tyr6732Ter)
c.18009C>G (p.Tyr6003Ter)
n.7839-9526G>C
n.8214-9526G>C
2g.151524407G=CA1298163617NEB,RIF1c.1826C=
n.173C=
c.5234C=
n.1408C=
c.1082C=
c.22383C= (p.Tyr7461=)
c.17280C= (p.Tyr5760=)
c.6573C= (p.Tyr2191=)
c.251C=
c.22488C= (p.Tyr7496=)
c.21654C= (p.Tyr7218=)
c.19467C= (p.Tyr6489=)
c.20196C= (p.Tyr6732=)
c.18009C= (p.Tyr6003=)
n.7839-9526G=
n.8214-9526G=
2g.151524407G>TCA348764890NEB,RIF1c.1826C>A
n.173C>A
c.5234C>A
n.1408C>A
c.1082C>A
c.22383C>A (p.Tyr7461Ter)
c.17280C>A (p.Tyr5760Ter)
c.6573C>A (p.Tyr2191Ter)
c.251C>A
c.22488C>A (p.Tyr7496Ter)
c.21654C>A (p.Tyr7218Ter)
c.19467C>A (p.Tyr6489Ter)
c.20196C>A (p.Tyr6732Ter)
c.18009C>A (p.Tyr6003Ter)
n.7839-9526G>T
n.8214-9526G>T
2g.151524408T>ACA348764891NEB,RIF1c.1825A>T
n.172A>T
c.5233A>T
n.1407A>T
c.1081A>T
c.22382A>T (p.Tyr7461Phe)
c.17279A>T (p.Tyr5760Phe)
c.6572A>T (p.Tyr2191Phe)
c.250A>T
c.22487A>T (p.Tyr7496Phe)
c.21653A>T (p.Tyr7218Phe)
c.19466A>T (p.Tyr6489Phe)
c.20195A>T (p.Tyr6732Phe)
c.18008A>T (p.Tyr6003Phe)
n.7839-9525T>A
n.8214-9525T>A
2g.151524408T>CCA1906663NEB,RIF1c.1825A>G
n.172A>G
c.5233A>G
n.1407A>G
c.1081A>G
c.22382A>G (p.Tyr7461Cys)
c.17279A>G (p.Tyr5760Cys)
c.6572A>G (p.Tyr2191Cys)
c.250A>G
c.22487A>G (p.Tyr7496Cys)
c.21653A>G (p.Tyr7218Cys)
c.19466A>G (p.Tyr6489Cys)
c.20195A>G (p.Tyr6732Cys)
c.18008A>G (p.Tyr6003Cys)
n.7839-9525T>C
n.8214-9525T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151524408T>GCA348764892NEB,RIF1c.1825A>C
n.172A>C
c.5233A>C
n.1407A>C
c.1081A>C
c.22382A>C (p.Tyr7461Ser)
c.17279A>C (p.Tyr5760Ser)
c.6572A>C (p.Tyr2191Ser)
c.250A>C
c.22487A>C (p.Tyr7496Ser)
c.21653A>C (p.Tyr7218Ser)
c.19466A>C (p.Tyr6489Ser)
c.20195A>C (p.Tyr6732Ser)
c.18008A>C (p.Tyr6003Ser)
n.7839-9525T>G
n.8214-9525T>G
2g.151524408T=CA1298163618NEB,RIF1c.1825A=
n.172A=
c.5233A=
n.1407A=
c.1081A=
c.22382A= (p.Tyr7461=)
c.17279A= (p.Tyr5760=)
c.6572A= (p.Tyr2191=)
c.250A=
c.22487A= (p.Tyr7496=)
c.21653A= (p.Tyr7218=)
c.19466A= (p.Tyr6489=)
c.20195A= (p.Tyr6732=)
c.18008A= (p.Tyr6003=)
n.7839-9525T=
n.8214-9525T=
2g.151524409A>CCA348764895NEB,RIF1c.1824T>G
n.171T>G
c.5232T>G
n.1406T>G
c.1080T>G
c.22381T>G (p.Tyr7461Asp)
c.17278T>G (p.Tyr5760Asp)
c.6571T>G (p.Tyr2191Asp)
c.249T>G
c.22486T>G (p.Tyr7496Asp)
c.21652T>G (p.Tyr7218Asp)
c.19465T>G (p.Tyr6489Asp)
c.20194T>G (p.Tyr6732Asp)
c.18007T>G (p.Tyr6003Asp)
n.7839-9524A>C
n.8214-9524A>C
2g.151524409A>GCA348764893NEB,RIF1c.1824T>C
n.171T>C
c.5232T>C
n.1406T>C
c.1080T>C
c.22381T>C (p.Tyr7461His)
c.17278T>C (p.Tyr5760His)
c.6571T>C (p.Tyr2191His)
c.249T>C
c.22486T>C (p.Tyr7496His)
c.21652T>C (p.Tyr7218His)
c.19465T>C (p.Tyr6489His)
c.20194T>C (p.Tyr6732His)
c.18007T>C (p.Tyr6003His)
n.7839-9524A>G
n.8214-9524A>G
 gnomAD v4
2g.151524409A>TCA348764894NEB,RIF1c.1824T>A
n.171T>A
c.5232T>A
n.1406T>A
c.1080T>A
c.22381T>A (p.Tyr7461Asn)
c.17278T>A (p.Tyr5760Asn)
c.6571T>A (p.Tyr2191Asn)
c.249T>A
c.22486T>A (p.Tyr7496Asn)
c.21652T>A (p.Tyr7218Asn)
c.19465T>A (p.Tyr6489Asn)
c.20194T>A (p.Tyr6732Asn)
c.18007T>A (p.Tyr6003Asn)
n.7839-9524A>T
n.8214-9524A>T
2g.151524410C>ACA348764896NEB,RIF1c.1823G>T
n.170G>T
c.5231G>T
n.1405G>T
c.1079G>T
c.22380G>T (p.Glu7460Asp)
c.17277G>T (p.Glu5759Asp)
c.6570G>T (p.Glu2190Asp)
c.248G>T
c.22485G>T (p.Glu7495Asp)
c.21651G>T (p.Glu7217Asp)
c.19464G>T (p.Glu6488Asp)
c.20193G>T (p.Glu6731Asp)
c.18006G>T (p.Glu6002Asp)
n.7839-9523C>A
n.8214-9523C>A
2g.151524410C>GCA348764897NEB,RIF1c.1823G>C
n.170G>C
c.5231G>C
n.1405G>C
c.1079G>C
c.22380G>C (p.Glu7460Asp)
c.17277G>C (p.Glu5759Asp)
c.6570G>C (p.Glu2190Asp)
c.248G>C
c.22485G>C (p.Glu7495Asp)
c.21651G>C (p.Glu7217Asp)
c.19464G>C (p.Glu6488Asp)
c.20193G>C (p.Glu6731Asp)
c.18006G>C (p.Glu6002Asp)
n.7839-9523C>G
n.8214-9523C>G
2g.151524410C>TCA429450704NEB,RIF1c.1823G>A
n.170G>A
c.5231G>A
n.1405G>A
c.1079G>A
c.22380G>A (p.Glu7460=)
c.17277G>A (p.Glu5759=)
c.6570G>A (p.Glu2190=)
c.248G>A
c.22485G>A (p.Glu7495=)
c.21651G>A (p.Glu7217=)
c.19464G>A (p.Glu6488=)
c.20193G>A (p.Glu6731=)
c.18006G>A (p.Glu6002=)
n.7839-9523C>T
n.8214-9523C>T
2g.151524411T>ACA348764898NEB,RIF1c.1822A>T
n.169A>T
c.5230A>T
n.1404A>T
c.1078A>T
c.22379A>T (p.Glu7460Val)
c.17276A>T (p.Glu5759Val)
c.6569A>T (p.Glu2190Val)
c.247A>T
c.22484A>T (p.Glu7495Val)
c.21650A>T (p.Glu7217Val)
c.19463A>T (p.Glu6488Val)
c.20192A>T (p.Glu6731Val)
c.18005A>T (p.Glu6002Val)
n.7839-9522T>A
n.8214-9522T>A
2g.151524411T>CCA348764899NEB,RIF1c.1822A>G
n.169A>G
c.5230A>G
n.1404A>G
c.1078A>G
c.22379A>G (p.Glu7460Gly)
c.17276A>G (p.Glu5759Gly)
c.6569A>G (p.Glu2190Gly)
c.247A>G
c.22484A>G (p.Glu7495Gly)
c.21650A>G (p.Glu7217Gly)
c.19463A>G (p.Glu6488Gly)
c.20192A>G (p.Glu6731Gly)
c.18005A>G (p.Glu6002Gly)
n.7839-9522T>C
n.8214-9522T>C
2g.151524411T>GCA348764900NEB,RIF1c.1822A>C
n.169A>C
c.5230A>C
n.1404A>C
c.1078A>C
c.22379A>C (p.Glu7460Ala)
c.17276A>C (p.Glu5759Ala)
c.6569A>C (p.Glu2190Ala)
c.247A>C
c.22484A>C (p.Glu7495Ala)
c.21650A>C (p.Glu7217Ala)
c.19463A>C (p.Glu6488Ala)
c.20192A>C (p.Glu6731Ala)
c.18005A>C (p.Glu6002Ala)
n.7839-9522T>G
n.8214-9522T>G

Number of alleles fetched