Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.151524314G>A | CA429450655 | NEB,RIF1 | c.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 |
2 | g.151524314G>C | CA348764368 | NEB,RIF1 | c.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 | |
2 | g.151524314G>T | CA348764370 | NEB,RIF1 | c.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 | |
2 | g.151524315C>A | CA348764375 | NEB,RIF1 | c.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 | |
2 | g.151524315C= | CA1298163574 | NEB,RIF1 | c.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= | |
2 | g.151524315C>G | CA57624594 | NEB,RIF1 | c.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 |
2 | g.151524315C>T | CA348764381 | NEB,RIF1 | c.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 |
2 | g.151524316T>A | CA348764385 | NEB,RIF1 | c.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 | |
2 | g.151524316T>C | CA348764387 | NEB,RIF1 | c.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 | |
2 | g.151524316T>G | CA348764390 | NEB,RIF1 | c.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 | |
2 | g.151524317G>A | CA1906645 | NEB,RIF1 | c.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 |
2 | g.151524317G>C | CA348764409 | NEB,RIF1 | c.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 | |
2 | g.151524317G= | CA1298163575 | NEB,RIF1 | c.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= | |
2 | g.151524317G>T | CA348764419 | NEB,RIF1 | c.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 | |
2 | g.151524318C>A | CA348764433 | NEB,RIF1 | c.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 | |
2 | g.151524318C>G | CA348764429 | NEB,RIF1 | c.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 | |
2 | g.151524318C>T | CA348764425 | NEB,RIF1 | c.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 |
2 | g.151524319T>A | CA348764439 | NEB,RIF1 | c.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 | |
2 | g.151524319T>C | CA57624599 | NEB,RIF1 | c.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 |
2 | g.151524319T>G | CA348764447 | NEB,RIF1 | c.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 | |
2 | g.151524319T= | CA1298163576 | NEB,RIF1 | c.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= | |
2 | g.151524320C>A | CA429450656 | NEB,RIF1 | c.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 | |
2 | g.151524320C= | CA1298163577 | NEB,RIF1 | c.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= | |
2 | g.151524320C>G | CA429450657 | NEB,RIF1 | c.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 |
2 | g.151524320C>T | CA429450658 | NEB,RIF1 | c.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 |
2 | g.151524321A>C | CA348764451 | NEB,RIF1 | c.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 | |
2 | g.151524321A>G | CA348764455 | NEB,RIF1 | c.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 | |
2 | g.151524321A>T | CA348764458 | NEB,RIF1 | c.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 | |
2 | g.151524322G>A | CA1906646 | NEB,RIF1 | c.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 |
2 | g.151524322G>C | CA348764464 | NEB,RIF1 | c.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 |
2 | g.151524322G= | CA1298163578 | NEB,RIF1 | c.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= | |
2 | g.151524322G>T | CA348764466 | NEB,RIF1 | c.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 |
2 | g.151524323C>A | CA348764472 | NEB,RIF1 | c.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 | |
2 | g.151524323C>G | CA348764475 | NEB,RIF1 | c.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 | |
2 | g.151524323C>T | CA429450659 | NEB,RIF1 | c.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 |
2 | g.151524324T>A | CA348764478 | NEB,RIF1 | c.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 | |
2 | g.151524324T>C | CA348764482 | NEB,RIF1 | c.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 |
2 | g.151524324T>G | CA348764486 | NEB,RIF1 | c.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 | |
2 | g.151524324T= | CA1298163579 | NEB,RIF1 | c.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= | |
2 | g.151524325T>A | CA348764499 | NEB,RIF1 | c.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 | |
2 | g.151524325T>C | CA348764495 | NEB,RIF1 | c.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 | |
2 | g.151524325T>G | CA348764492 | NEB,RIF1 | c.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 | |
2 | g.151524326G>A | CA429450660 | NEB,RIF1 | c.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 |
2 | g.151524326G>C | CA429450661 | NEB,RIF1 | c.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 |
2 | g.151524326G>T | CA429450662 | NEB,RIF1 | c.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 | |
2 | g.151524327dup | CA2841294398 | NEB,RIF1 | c.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 | |
2 | g.151524327G>A | CA348764503 | NEB,RIF1 | c.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 | |
2 | g.151524327G>C | CA348764507 | NEB,RIF1 | c.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 | |
2 | g.151524327G>T | CA348764508 | NEB,RIF1 | c.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 |
2 | g.151524328C>A | CA348764515 | NEB,RIF1 | c.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 | |
2 | g.151524328C>G | CA348764519 | NEB,RIF1 | c.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 | |
2 | g.151524328C>T | CA348764523 | NEB,RIF1 | c.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 | |
2 | g.151524329T>A | CA429450663 | NEB,RIF1 | c.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 | |
2 | g.151524329T>C | CA429450665 | NEB,RIF1 | c.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 | |
2 | g.151524329T>G | CA429450664 | NEB,RIF1 | c.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 | |
2 | g.151524330G>A | CA57624616 | NEB,RIF1 | c.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 |
2 | g.151524330G>C | CA348764529 | NEB,RIF1 | c.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 | |
2 | g.151524330G= | CA1298163580 | NEB,RIF1 | c.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= | |
2 | g.151524330G>T | CA348764533 | NEB,RIF1 | c.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 | |
2 | g.151524331C>A | CA348764542 | NEB,RIF1 | c.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 | |
2 | g.151524331C>G | CA348764545 | NEB,RIF1 | c.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 | |
2 | g.151524331C>T | CA348764548 | NEB,RIF1 | c.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 | |
2 | g.151524332C>A | CA348764553 | NEB,RIF1 | c.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 | |
2 | g.151524332C= | CA1298163581 | NEB,RIF1 | c.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= | |
2 | g.151524332C>G | CA348764558 | NEB,RIF1 | c.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 |
2 | g.151524332C>T | CA429450666 | NEB,RIF1 | c.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 |
2 | g.151524333T>A | CA348764571 | NEB,RIF1 | c.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 | |
2 | g.151524333T>C | CA348764564 | NEB,RIF1 | c.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 | |
2 | g.151524333T>G | CA348764568 | NEB,RIF1 | c.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 |
2 | g.151524333T= | CA1298163582 | NEB,RIF1 | c.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= | |
2 | g.151524333_151524334delinsGC | CA2580063941 | NEB,RIF1 | c.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 |
2 | g.151524334T>A | CA348764579 | NEB,RIF1 | c.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 | |
2 | g.151524334T>C | CA348764584 | NEB,RIF1 | c.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 |
2 | g.151524334T>G | CA348764587 | NEB,RIF1 | c.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 | |
2 | g.151524334T= | CA1298163583 | NEB,RIF1 | c.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= | |
2 | g.151524335C>A | CA348764591 | NEB,RIF1 | c.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 | |
2 | g.151524335C>G | CA348764593 | NEB,RIF1 | c.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 | |
2 | g.151524335C>T | CA429450667 | NEB,RIF1 | c.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 | |
2 | g.151524336T>A | CA348764596 | NEB,RIF1 | c.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 | |
2 | g.151524336T>C | CA348764602 | NEB,RIF1 | c.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 | |
2 | g.151524336T>G | CA348764606 | NEB,RIF1 | c.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 | |
2 | g.151524337T>A | CA348764612 | NEB,RIF1 | c.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 | |
2 | g.151524337T>C | CA348764615 | NEB,RIF1 | c.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 | |
2 | g.151524337T>G | CA348764619 | NEB,RIF1 | c.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 | |
2 | g.151524338G>A | CA429450668 | NEB,RIF1 | c.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 | |
2 | g.151524338G>C | CA1906647 | NEB,RIF1 | c.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 |
2 | g.151524338G= | CA1298163584 | NEB,RIF1 | c.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= | |
2 | g.151524338G>T | CA429450669 | NEB,RIF1 | c.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 |
2 | g.151524339del | CA2841294400 | NEB,RIF1 | c.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 | |
2 | g.151524339G>A | CA348764634 | NEB,RIF1 | c.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 |
2 | g.151524339G>C | CA348764627 | NEB,RIF1 | c.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 | |
2 | g.151524339G>T | CA348764631 | NEB,RIF1 | c.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 | |
2 | g.151524340C>A | CA348764640 | NEB,RIF1 | c.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 | |
2 | g.151524340C= | CA1298163585 | NEB,RIF1 | c.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= | |
2 | g.151524340C>G | CA348764648 | NEB,RIF1 | c.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 | |
2 | g.151524340C>T | CA1906648 | NEB,RIF1 | c.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 |
2 | g.151524341C>A | CA348764653 | NEB,RIF1 | c.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 | |
2 | g.151524341C>G | CA348764656 | NEB,RIF1 | c.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 | |
2 | g.151524341C>T | CA348764658 | NEB,RIF1 | c.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 |
2 | g.151524342A>C | CA348764663 | NEB,RIF1 | c.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 | |
2 | g.151524342A>G | CA348764666 | NEB,RIF1 | c.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 | |
2 | g.151524342A>T | CA348764670 | NEB,RIF1 | c.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 | |
2 | g.151524343T>A | CA348764677 | NEB,RIF1 | c.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 |
2 | g.151524343T>C | CA348764679 | NEB,RIF1 | c.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 | |
2 | g.151524343T>G | CA348764682 | NEB,RIF1 | c.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 | |
2 | g.151524344T>A | CA348764687 | NEB,RIF1 | c.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 | |
2 | g.151524344T>C | CA429450670 | NEB,RIF1 | c.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 | |
2 | g.151524344T>G | CA348764691 | NEB,RIF1 | c.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 | |
2 | g.151524345T>A | CA348764704 | NEB,RIF1 | c.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 | |
2 | g.151524345T>C | CA348764701 | NEB,RIF1 | c.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 | |
2 | g.151524345T>G | CA348764695 | NEB,RIF1 | c.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 | |
2 | g.151524346C>A | CA348764712 | NEB,RIF1 | c.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 | |
2 | g.151524346C>G | CA348764716 | NEB,RIF1 | c.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 | |
2 | g.151524346C>T | CA348764719 | NEB,RIF1 | c.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 |
2 | g.151524347T>A | CA429450671 | NEB,RIF1 | c.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 | |
2 | g.151524347T>C | CA348764722 | NEB,RIF1 | c.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 | |
2 | g.151524347T>G | CA429450672 | NEB,RIF1 | c.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 | |
2 | g.151524348del | CA2841294401 | NEB,RIF1 | c.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 | |
2 | g.151524348A>C | CA348764726 | NEB,RIF1 | c.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 | |
2 | g.151524348A>G | CA348764729 | NEB,RIF1 | c.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 |
2 | g.151524348A>T | CA348764732 | NEB,RIF1 | c.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 | |
2 | g.151524349T>A | CA348764737 | NEB,RIF1 | c.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 | |
2 | g.151524349T>C | CA57624630 | NEB,RIF1 | c.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 |
2 | g.151524349T>G | CA348764745 | NEB,RIF1 | c.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 | |
2 | g.151524349T= | CA1298163586 | NEB,RIF1 | c.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= | |
2 | g.151524350G>A | CA429450673 | NEB,RIF1 | c.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 |
2 | g.151524350G>C | CA348764751 | NEB,RIF1 | c.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 | |
2 | g.151524350G>T | CA348764754 | NEB,RIF1 | c.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 | |
2 | g.151524351T>A | CA348764768 | NEB,RIF1 | c.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 | |
2 | g.151524351T>C | CA348764766 | NEB,RIF1 | c.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 | |
2 | g.151524351T>G | CA10610914 | NEB,RIF1 | c.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 |
2 | g.151524351T= | CA1298163587 | NEB,RIF1 | c.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= | |
2 | g.151524352C>A | CA348764773 | NEB,RIF1 | c.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 | |
2 | g.151524352C>G | CA348764771 | NEB,RIF1 | c.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 | |
2 | g.151524352C>T | CA348764772 | NEB,RIF1 | c.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 | |
2 | g.151524353T>A | CA429450674 | NEB,RIF1 | c.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 | |
2 | g.151524353T>C | CA429450675 | NEB,RIF1 | c.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 | |
2 | g.151524353T>G | CA429450676 | NEB,RIF1 | c.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 |
2 | g.151524353T= | CA1298163588 | NEB,RIF1 | c.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= | |
2 | g.151524354G>A | CA348764774 | NEB,RIF1 | c.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 | |
2 | g.151524354G>C | CA348764775 | NEB,RIF1 | c.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 | |
2 | g.151524354G>T | CA348764777 | NEB,RIF1 | c.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 | |
2 | g.151524355G>A | CA348764778 | NEB,RIF1 | c.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 |
2 | g.151524355G>C | CA348764779 | NEB,RIF1 | c.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 | |
2 | g.151524355G= | CA1298163589 | NEB,RIF1 | c.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= | |
2 | g.151524355G>T | CA348764780 | NEB,RIF1 | c.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 | |
2 | g.151524356G>A | CA1906649 | NEB,RIF1 | c.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 |
2 | g.151524356G>C | CA429450677 | NEB,RIF1 | c.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 | |
2 | g.151524356G= | CA1298163590 | NEB,RIF1 | c.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= | |
2 | g.151524356G>T | CA429450678 | NEB,RIF1 | c.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 | |
2 | g.151524357C>A | CA348764781 | NEB,RIF1 | c.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 | |
2 | g.151524357C= | CA1298163591 | NEB,RIF1 | c.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= | |
2 | g.151524357C>G | CA348764782 | NEB,RIF1 | c.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 | |
2 | g.151524357C>T | CA1906650 | NEB,RIF1 | c.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 |
2 | g.151524358G>A | CA231313 | NEB,RIF1 | c.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 |
2 | g.151524358G>C | CA348764784 | NEB,RIF1 | c.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 | |
2 | g.151524358G= | CA1298163592 | NEB,RIF1 | c.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= | |
2 | g.151524358G>T | CA348764783 | NEB,RIF1 | c.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 |
2 | g.151524359A>C | CA429450681 | NEB,RIF1 | c.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 | |
2 | g.151524359A>G | CA429450680 | NEB,RIF1 | c.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 |
2 | g.151524359A>T | CA429450679 | NEB,RIF1 | c.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 |
2 | g.151524360C>A | CA348764785 | NEB,RIF1 | c.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 | |
2 | g.151524360C>G | CA348764786 | NEB,RIF1 | c.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 | |
2 | g.151524360C>T | CA348764787 | NEB,RIF1 | c.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 | |
2 | g.151524361C>A | CA348764788 | NEB,RIF1 | c.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 |
2 | g.151524361C= | CA1298163593 | NEB,RIF1 | c.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= | |
2 | g.151524361C>G | CA348764789 | NEB,RIF1 | c.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 | |
2 | g.151524361C>T | CA10606067 | NEB,RIF1 | c.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 |
2 | g.151524362G>A | CA153956 | NEB,RIF1 | c.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 |
2 | g.151524362G>C | CA429450682 | NEB,RIF1 | c.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 | |
2 | g.151524362G= | CA1298163594 | NEB,RIF1 | c.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= | |
2 | g.151524362G>T | CA429450683 | NEB,RIF1 | c.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 | |
2 | g.151524363A= | CA1298163595 | NEB,RIF1 | c.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= | |
2 | g.151524363A>C | CA348764790 | NEB,RIF1 | c.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 |
2 | g.151524363A>G | CA348764791 | NEB,RIF1 | c.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 | |
2 | g.151524363A>T | CA348764792 | NEB,RIF1 | c.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 | |
2 | g.151524364G>A | CA57624679 | NEB,RIF1 | c.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 |
2 | g.151524364G>C | CA348764793 | NEB,RIF1 | c.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 |
2 | g.151524364G= | CA1298163596 | NEB,RIF1 | c.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= | |
2 | g.151524364G>T | CA348764794 | NEB,RIF1 | c.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 | |
2 | g.151524365C>A | CA348764796 | NEB,RIF1 | c.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 | |
2 | g.151524365C>G | CA348764797 | NEB,RIF1 | c.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 | |
2 | g.151524365C>T | CA348764795 | NEB,RIF1 | c.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 | |
2 | g.151524366A= | CA1298163597 | NEB,RIF1 | c.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= | |
2 | g.151524366A>C | CA348764798 | NEB,RIF1 | c.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 |
2 | g.151524366A>G | CA1906651 | NEB,RIF1 | c.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 |
2 | g.151524366A>T | CA348764799 | NEB,RIF1 | c.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 | |
2 | g.151524367T>A | CA348764800 | NEB,RIF1 | c.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 | |
2 | g.151524367T>C | CA348764802 | NEB,RIF1 | c.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 |
2 | g.151524367T>G | CA348764801 | NEB,RIF1 | c.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 | |
2 | g.151524368G>A | CA429450684 | NEB,RIF1 | c.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 |
2 | g.151524368G>C | CA348764803 | NEB,RIF1 | c.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 | |
2 | g.151524368G>T | CA348764804 | NEB,RIF1 | c.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 | |
2 | g.151524369C>A | CA348764805 | NEB,RIF1 | c.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 | |
2 | g.151524369C>G | CA348764806 | NEB,RIF1 | c.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 |
2 | g.151524369C>T | CA348764807 | NEB,RIF1 | c.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 | |
2 | g.151524370T>A | CA348764808 | NEB,RIF1 | c.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 |
2 | g.151524370T>C | CA348764809 | NEB,RIF1 | c.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 |
2 | g.151524370T>G | CA348764810 | NEB,RIF1 | c.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 | |
2 | g.151524371T>A | CA348764811 | NEB,RIF1 | c.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 | |
2 | g.151524371T>C | CA429450685 | NEB,RIF1 | c.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 | |
2 | g.151524371T>G | CA348764812 | NEB,RIF1 | c.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 | |
2 | g.151524371T= | CA1298163598 | NEB,RIF1 | c.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= | |
2 | g.151524372A>C | CA348764815 | NEB,RIF1 | c.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 | |
2 | g.151524372A>G | CA348764813 | NEB,RIF1 | c.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 | |
2 | g.151524372A>T | CA348764814 | NEB,RIF1 | c.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 | |
2 | g.151524373dup | CA916080273 | NEB,RIF1 | c.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 |
2 | g.151524373A>C | CA348764816 | NEB,RIF1 | c.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 | |
2 | g.151524373A>G | CA429450686 | NEB,RIF1 | c.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 |
2 | g.151524373A>T | CA348764817 | NEB,RIF1 | c.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 | |
2 | g.151524374G>A | CA429450687 | NEB,RIF1 | c.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 | |
2 | g.151524374G>C | CA429450688 | NEB,RIF1 | c.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 | |
2 | g.151524374G>T | CA429450689 | NEB,RIF1 | c.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 | |
2 | g.151524375C>A | CA348764818 | NEB,RIF1 | c.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 | |
2 | g.151524375C= | CA1298163599 | NEB,RIF1 | c.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= | |
2 | g.151524375C>G | CA348764819 | NEB,RIF1 | c.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 | |
2 | g.151524375C>T | CA1906652 | NEB,RIF1 | c.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 |
2 | g.151524376C>A | CA57624698 | NEB,RIF1 | c.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 |
2 | g.151524376C= | CA1298163600 | NEB,RIF1 | c.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= | |
2 | g.151524376C>G | CA348764820 | NEB,RIF1 | c.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 | |
2 | g.151524376C>T | CA1906653 | NEB,RIF1 | c.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 |
2 | g.151524377A>C | CA348764821 | NEB,RIF1 | c.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 | |
2 | g.151524377A>G | CA429450690 | NEB,RIF1 | c.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 |
2 | g.151524377A>T | CA348764822 | NEB,RIF1 | c.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 | |
2 | g.151524378T>A | CA348764824 | NEB,RIF1 | c.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 | |
2 | g.151524378T>C | CA348764825 | NEB,RIF1 | c.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 |
2 | g.151524378T>G | CA348764823 | NEB,RIF1 | c.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 | |
2 | g.151524378T= | CA1298163601 | NEB,RIF1 | c.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= | |
2 | g.151524379G>A | CA348764826 | NEB,RIF1 | c.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 |
2 | g.151524379G>C | CA348764827 | NEB,RIF1 | c.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 | |
2 | g.151524379G= | CA1298163602 | NEB,RIF1 | c.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= | |
2 | g.151524379G>T | CA348764828 | NEB,RIF1 | c.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 | |
2 | g.151524380G>A | CA429450691 | NEB,RIF1 | c.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 |
2 | g.151524380G>C | CA348764829 | NEB,RIF1 | c.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 |
2 | g.151524380G= | CA1298163603 | NEB,RIF1 | c.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= | |
2 | g.151524380G>T | CA348764830 | NEB,RIF1 | c.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 | |
2 | g.151524381C>A | CA348764831 | NEB,RIF1 | c.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 | |
2 | g.151524381C= | CA1298163604 | NEB,RIF1 | c.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= | |
2 | g.151524381C>G | CA348764832 | NEB,RIF1 | c.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 |
2 | g.151524381C>T | CA348764833 | NEB,RIF1 | c.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 |
2 | g.151524382T>A | CA348764834 | NEB,RIF1 | c.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 | |
2 | g.151524382T>C | CA348764835 | NEB,RIF1 | c.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 | |
2 | g.151524382T>G | CA348764836 | NEB,RIF1 | c.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 | |
2 | g.151524383G>A | CA429450694 | NEB,RIF1 | c.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 |
2 | g.151524383G>C | CA429450693 | NEB,RIF1 | c.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 | |
2 | g.151524383G= | CA1298163605 | NEB,RIF1 | c.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= | |
2 | g.151524383G>T | CA429450692 | NEB,RIF1 | c.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 | |
2 | g.151524384C>A | CA348764837 | NEB,RIF1 | c.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 |
2 | g.151524384C= | CA1298163606 | NEB,RIF1 | c.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= | |
2 | g.151524384C>G | CA1906655 | NEB,RIF1 | c.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 |
2 | g.151524384C>T | CA1906654 | NEB,RIF1 | c.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 |
2 | g.151524385C>A | CA348764838 | NEB,RIF1 | c.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 | |
2 | g.151524385C= | CA1298163607 | NEB,RIF1 | c.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= | |
2 | g.151524385C>G | CA348764839 | NEB,RIF1 | c.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 | |
2 | g.151524385C>T | CA348764840 | NEB,RIF1 | c.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 |
2 | g.151524386T>A | CA348764841 | NEB,RIF1 | c.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 | |
2 | g.151524386T>C | CA1906656 | NEB,RIF1 | c.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 |
2 | g.151524386T>G | CA348764842 | NEB,RIF1 | c.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 | |
2 | g.151524386T= | CA1298163608 | NEB,RIF1 | c.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= | |
2 | g.151524387T>A | CA348764843 | NEB,RIF1 | c.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 | |
2 | g.151524387T>C | CA348764844 | NEB,RIF1 | c.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 | |
2 | g.151524387T>G | CA1906657 | NEB,RIF1 | c.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 |
2 | g.151524387T= | CA1298163609 | NEB,RIF1 | c.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= | |
2 | g.151524388C>A | CA348764845 | NEB,RIF1 | c.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 | |
2 | g.151524388C>G | CA348764846 | NEB,RIF1 | c.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 | |
2 | g.151524388C>T | CA348764847 | NEB,RIF1 | c.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 |
2 | g.151524389C>A | CA348764848 | NEB,RIF1 | c.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 | |
2 | g.151524389C>G | CA348764849 | NEB,RIF1 | c.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 | |
2 | g.151524389C>T | CA429450695 | NEB,RIF1 | c.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 |
2 | g.151524390T>A | CA348764851 | NEB,RIF1 | c.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 | |
2 | g.151524390T>C | CA348764852 | NEB,RIF1 | c.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 | |
2 | g.151524390T>G | CA348764850 | NEB,RIF1 | c.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 | |
2 | g.151524391T>A | CA348764853 | NEB,RIF1 | c.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 | |
2 | g.151524391T>C | CA348764854 | NEB,RIF1 | c.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 | |
2 | g.151524391T>G | CA348764855 | NEB,RIF1 | c.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 | |
2 | g.151524392G>A | CA429450696 | NEB,RIF1 | c.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 | |
2 | g.151524392G>C | CA429450697 | NEB,RIF1 | c.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 |
2 | g.151524392G= | CA1298163610 | NEB,RIF1 | c.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= | |
2 | g.151524392G>T | CA429450698 | NEB,RIF1 | c.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 | |
2 | g.151524393C>A | CA348764856 | NEB,RIF1 | c.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 | |
2 | g.151524393C= | CA1298163611 | NEB,RIF1 | c.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= | |
2 | g.151524393C>G | CA348764857 | NEB,RIF1 | c.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 | |
2 | g.151524393C>T | CA1906658 | NEB,RIF1 | c.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 |
2 | g.151524394G>A | CA1906659 | NEB,RIF1 | c.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 |
2 | g.151524394G>C | CA348764858 | NEB,RIF1 | c.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 |
2 | g.151524394G= | CA1298163612 | NEB,RIF1 | c.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= | |
2 | g.151524394G>T | CA348764859 | NEB,RIF1 | c.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 | |
2 | g.151524395G>A | CA429450699 | NEB,RIF1 | c.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 |
2 | g.151524395G>C | CA348764860 | NEB,RIF1 | c.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 | |
2 | g.151524395G= | CA1298163613 | NEB,RIF1 | c.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= | |
2 | g.151524395G>T | CA348764861 | NEB,RIF1 | c.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 |
2 | g.151524396T>A | CA348764862 | NEB,RIF1 | c.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 | |
2 | g.151524396T>C | CA348764863 | NEB,RIF1 | c.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 | |
2 | g.151524396T>G | CA348764864 | NEB,RIF1 | c.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 | |
2 | g.151524397G>A | CA348764867 | NEB,RIF1 | c.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 |
2 | g.151524397G>C | CA348764865 | NEB,RIF1 | c.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 | |
2 | g.151524397G>T | CA348764866 | NEB,RIF1 | c.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 | |
2 | g.151524398C>A | CA348764868 | NEB,RIF1 | c.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 | |
2 | g.151524398C= | CA1298163614 | NEB,RIF1 | c.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= | |
2 | g.151524398C>G | CA348764869 | NEB,RIF1 | c.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 | |
2 | g.151524398C>T | CA1906660 | NEB,RIF1 | c.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 |
2 | g.151524399T>A | CA348764870 | NEB,RIF1 | c.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 |
2 | g.151524399T>C | CA348764871 | NEB,RIF1 | c.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 | |
2 | g.151524399T>G | CA348764872 | NEB,RIF1 | c.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 | |
2 | g.151524400T>A | CA348764873 | NEB,RIF1 | c.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 | |
2 | g.151524400T>C | CA348764874 | NEB,RIF1 | c.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 | |
2 | g.151524400T>G | CA348764875 | NEB,RIF1 | c.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 | |
2 | g.151524401G>A | CA1906661 | NEB,RIF1 | c.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 |
2 | g.151524401G>C | CA429450701 | NEB,RIF1 | c.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 | |
2 | g.151524401G= | CA1298163615 | NEB,RIF1 | c.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= | |
2 | g.151524401G>T | CA429450700 | NEB,RIF1 | c.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 | |
2 | g.151524402del | CA2695196983 | NEB,RIF1 | c.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 |
2 | g.151524402G>A | CA348764876 | NEB,RIF1 | c.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 | |
2 | g.151524402G>C | CA348764877 | NEB,RIF1 | c.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 | |
2 | g.151524402G>T | CA348764878 | NEB,RIF1 | c.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 | |
2 | g.151524403C>A | CA348764879 | NEB,RIF1 | c.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 | |
2 | g.151524403C= | CA1298163616 | NEB,RIF1 | c.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= | |
2 | g.151524403C>G | CA348764881 | NEB,RIF1 | c.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 |
2 | g.151524403C>T | CA348764880 | NEB,RIF1 | c.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 |
2 | g.151524404T>A | CA348764882 | NEB,RIF1 | c.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 | |
2 | g.151524404T>C | CA429450702 | NEB,RIF1 | c.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 | |
2 | g.151524404T>G | CA348764883 | NEB,RIF1 | c.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 | |
2 | g.151524405C>A | CA348764884 | NEB,RIF1 | c.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 |
2 | g.151524405C>G | CA348764885 | NEB,RIF1 | c.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 | |
2 | g.151524405C>T | CA348764886 | NEB,RIF1 | c.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 | |
2 | g.151524406T>A | CA348764887 | NEB,RIF1 | c.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 | |
2 | g.151524406T>C | CA348764888 | NEB,RIF1 | c.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 | |
2 | g.151524406T>G | CA429450703 | NEB,RIF1 | c.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 | |
2 | g.151524407G>A | CA1906662 | NEB,RIF1 | c.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 |
2 | g.151524407G>C | CA348764889 | NEB,RIF1 | c.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 | |
2 | g.151524407G= | CA1298163617 | NEB,RIF1 | c.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= | |
2 | g.151524407G>T | CA348764890 | NEB,RIF1 | c.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 | |
2 | g.151524408T>A | CA348764891 | NEB,RIF1 | c.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 | |
2 | g.151524408T>C | CA1906663 | NEB,RIF1 | c.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 |
2 | g.151524408T>G | CA348764892 | NEB,RIF1 | c.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 | |
2 | g.151524408T= | CA1298163618 | NEB,RIF1 | c.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= | |
2 | g.151524409A>C | CA348764895 | NEB,RIF1 | c.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 | |
2 | g.151524409A>G | CA348764893 | NEB,RIF1 | c.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 |
2 | g.151524409A>T | CA348764894 | NEB,RIF1 | c.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 | |
2 | g.151524410C>A | CA348764896 | NEB,RIF1 | c.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 | |
2 | g.151524410C>G | CA348764897 | NEB,RIF1 | c.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 | |
2 | g.151524410C>T | CA429450704 | NEB,RIF1 | c.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 | |
2 | g.151524411T>A | CA348764898 | NEB,RIF1 | c.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 | |
2 | g.151524411T>C | CA348764899 | NEB,RIF1 | c.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 | |
2 | g.151524411T>G | CA348764900 | NEB,RIF1 | c.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 | |
2 | g.151524412C>A | CA348764901 | NEB,RIF1 | c.1821G>T n.168G>T c.5229G>T n.1403G>T c.1077G>T c.22378G>T (p.Glu7460Ter) c.17275G>T (p.Glu5759Ter) c.6568G>T (p.Glu2190Ter) c.246G>T c.22483G>T (p.Glu7495Ter) c.21649G>T (p.Glu7217Ter) c.19462G>T (p.Glu6488Ter) c.20191G>T (p.Glu6731Ter) c.18004G>T (p.Glu6002Ter) n.7839-9521C>A n.8214-9521C>A | |
2 | g.151524412C>G | CA348764902 | NEB,RIF1 | c.1821G>C n.168G>C c.5229G>C n.1403G>C c.1077G>C c.22378G>C (p.Glu7460Gln) c.17275G>C (p.Glu5759Gln) c.6568G>C (p.Glu2190Gln) c.246G>C c.22483G>C (p.Glu7495Gln) c.21649G>C (p.Glu7217Gln) c.19462G>C (p.Glu6488Gln) c.20191G>C (p.Glu6731Gln) c.18004G>C (p.Glu6002Gln) n.7839-9521C>G n.8214-9521C>G | gnomAD v4 |
2 | g.151524412C>T | CA348764903 | NEB,RIF1 | c.1821G>A n.168G>A c.5229G>A n.1403G>A c.1077G>A c.22378G>A (p.Glu7460Lys) c.17275G>A (p.Glu5759Lys) c.6568G>A (p.Glu2190Lys) c.246G>A c.22483G>A (p.Glu7495Lys) c.21649G>A (p.Glu7217Lys) c.19462G>A (p.Glu6488Lys) c.20191G>A (p.Glu6731Lys) c.18004G>A (p.Glu6002Lys) n.7839-9521C>T n.8214-9521C>T | |
2 | g.151524413C>A | CA429450707 | NEB,RIF1 | c.1820G>T n.167G>T c.5228G>T n.1402G>T c.1076G>T c.22377G>T (p.Val7459=) c.17274G>T (p.Val5758=) c.6567G>T (p.Val2189=) c.245G>T c.22482G>T (p.Val7494=) c.21648G>T (p.Val7216=) c.19461G>T (p.Val6487=) c.20190G>T (p.Val6730=) c.18003G>T (p.Val6001=) n.7839-9520C>A n.8214-9520C>A | |
2 | g.151524413C= | CA1298163619 | NEB,RIF1 | c.1820G= n.167G= c.5228G= n.1402G= c.1076G= c.22377G= (p.Val7459=) c.17274G= (p.Val5758=) c.6567G= (p.Val2189=) c.245G= c.22482G= (p.Val7494=) c.21648G= (p.Val7216=) c.19461G= (p.Val6487=) c.20190G= (p.Val6730=) c.18003G= (p.Val6001=) n.7839-9520C= n.8214-9520C= | |
2 | g.151524413C>G | CA429450706 | NEB,RIF1 | c.1820G>C n.167G>C c.5228G>C n.1402G>C c.1076G>C c.22377G>C (p.Val7459=) c.17274G>C (p.Val5758=) c.6567G>C (p.Val2189=) c.245G>C c.22482G>C (p.Val7494=) c.21648G>C (p.Val7216=) c.19461G>C (p.Val6487=) c.20190G>C (p.Val6730=) c.18003G>C (p.Val6001=) n.7839-9520C>G n.8214-9520C>G | |
2 | g.151524413C>T | CA429450705 | NEB,RIF1 | c.1820G>A n.167G>A c.5228G>A n.1402G>A c.1076G>A c.22377G>A (p.Val7459=) c.17274G>A (p.Val5758=) c.6567G>A (p.Val2189=) c.245G>A c.22482G>A (p.Val7494=) c.21648G>A (p.Val7216=) c.19461G>A (p.Val6487=) c.20190G>A (p.Val6730=) c.18003G>A (p.Val6001=) n.7839-9520C>T n.8214-9520C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.151524414A= | CA1298163620 | NEB,RIF1 | c.1819T= n.166T= c.5227T= n.1401T= c.1075T= c.22376T= (p.Val7459=) c.17273T= (p.Val5758=) c.6566T= (p.Val2189=) c.244T= c.22481T= (p.Val7494=) c.21647T= (p.Val7216=) c.19460T= (p.Val6487=) c.20189T= (p.Val6730=) c.18002T= (p.Val6001=) n.7839-9519A= n.8214-9519A= | |
2 | g.151524414A>C | CA348764904 | NEB,RIF1 | c.1819T>G n.166T>G c.5227T>G n.1401T>G c.1075T>G c.22376T>G (p.Val7459Gly) c.17273T>G (p.Val5758Gly) c.6566T>G (p.Val2189Gly) c.244T>G c.22481T>G (p.Val7494Gly) c.21647T>G (p.Val7216Gly) c.19460T>G (p.Val6487Gly) c.20189T>G (p.Val6730Gly) c.18002T>G (p.Val6001Gly) n.7839-9519A>C n.8214-9519A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.151524414A>G | CA348764905 | NEB,RIF1 | c.1819T>C n.166T>C c.5227T>C n.1401T>C c.1075T>C c.22376T>C (p.Val7459Ala) c.17273T>C (p.Val5758Ala) c.6566T>C (p.Val2189Ala) c.244T>C c.22481T>C (p.Val7494Ala) c.21647T>C (p.Val7216Ala) c.19460T>C (p.Val6487Ala) c.20189T>C (p.Val6730Ala) c.18002T>C (p.Val6001Ala) n.7839-9519A>G n.8214-9519A>G | gnomAD v4 |
2 | g.151524414A>T | CA348764906 | NEB,RIF1 | c.1819T>A n.166T>A c.5227T>A n.1401T>A c.1075T>A c.22376T>A (p.Val7459Glu) c.17273T>A (p.Val5758Glu) c.6566T>A (p.Val2189Glu) c.244T>A c.22481T>A (p.Val7494Glu) c.21647T>A (p.Val7216Glu) c.19460T>A (p.Val6487Glu) c.20189T>A (p.Val6730Glu) c.18002T>A (p.Val6001Glu) n.7839-9519A>T n.8214-9519A>T |