Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.151485774C>ACA348769553NEB,RIF1c.3873G>T
c.2163G>T
n.1383G>T
c.7269G>T
n.3455G>T
c.25564G>T (p.Val8522Phe)
c.19996G>T (p.Val6666Phe)
c.1965G>T
c.9010G>T (p.Val3004Phe)
c.2286G>T
c.2655+2439C>A
c.25669G>T (p.Val8557Phe)
c.25471G>T (p.Val8491Phe)
c.25378G>T (p.Val8460Phe)
c.25285G>T (p.Val8429Phe)
c.25192G>T (p.Val8398Phe)
c.25099G>T (p.Val8367Phe)
c.25006G>T (p.Val8336Phe)
c.24913G>T (p.Val8305Phe)
c.24835G>T (p.Val8279Phe)
c.24820G>T (p.Val8274Phe)
c.22648G>T (p.Val7550Phe)
c.23377G>T (p.Val7793Phe)
c.21190G>T (p.Val7064Phe)
n.7838+2439C>A
c.25453G>T (p.Val8485Phe)
c.24541G>T (p.Val8181Phe)
n.8213+2439C>A
 ClinVar dbSNP
2g.151485774C=CA1298146111NEB,RIF1c.3873G=
c.2163G=
n.1383G=
c.7269G=
n.3455G=
c.25564G= (p.Val8522=)
c.19996G= (p.Val6666=)
c.1965G=
c.9010G= (p.Val3004=)
c.2286G=
c.2655+2439C=
c.25669G= (p.Val8557=)
c.25471G= (p.Val8491=)
c.25378G= (p.Val8460=)
c.25285G= (p.Val8429=)
c.25192G= (p.Val8398=)
c.25099G= (p.Val8367=)
c.25006G= (p.Val8336=)
c.24913G= (p.Val8305=)
c.24835G= (p.Val8279=)
c.24820G= (p.Val8274=)
c.22648G= (p.Val7550=)
c.23377G= (p.Val7793=)
c.21190G= (p.Val7064=)
n.7838+2439C=
c.25453G= (p.Val8485=)
c.24541G= (p.Val8181=)
n.8213+2439C=
 dbSNP
2g.151485774C>GCA348769554NEB,RIF1c.3873G>C
c.2163G>C
n.1383G>C
c.7269G>C
n.3455G>C
c.25564G>C (p.Val8522Leu)
c.19996G>C (p.Val6666Leu)
c.1965G>C
c.9010G>C (p.Val3004Leu)
c.2286G>C
c.2655+2439C>G
c.25669G>C (p.Val8557Leu)
c.25471G>C (p.Val8491Leu)
c.25378G>C (p.Val8460Leu)
c.25285G>C (p.Val8429Leu)
c.25192G>C (p.Val8398Leu)
c.25099G>C (p.Val8367Leu)
c.25006G>C (p.Val8336Leu)
c.24913G>C (p.Val8305Leu)
c.24835G>C (p.Val8279Leu)
c.24820G>C (p.Val8274Leu)
c.22648G>C (p.Val7550Leu)
c.23377G>C (p.Val7793Leu)
c.21190G>C (p.Val7064Leu)
n.7838+2439C>G
c.25453G>C (p.Val8485Leu)
c.24541G>C (p.Val8181Leu)
n.8213+2439C>G
2g.151485774C>TCA1905678NEB,RIF1c.3873G>A
c.2163G>A
n.1383G>A
c.7269G>A
n.3455G>A
c.25564G>A (p.Val8522Ile)
c.19996G>A (p.Val6666Ile)
c.1965G>A
c.9010G>A (p.Val3004Ile)
c.2286G>A
c.2655+2439C>T
c.25669G>A (p.Val8557Ile)
c.25471G>A (p.Val8491Ile)
c.25378G>A (p.Val8460Ile)
c.25285G>A (p.Val8429Ile)
c.25192G>A (p.Val8398Ile)
c.25099G>A (p.Val8367Ile)
c.25006G>A (p.Val8336Ile)
c.24913G>A (p.Val8305Ile)
c.24835G>A (p.Val8279Ile)
c.24820G>A (p.Val8274Ile)
c.22648G>A (p.Val7550Ile)
c.23377G>A (p.Val7793Ile)
c.21190G>A (p.Val7064Ile)
n.7838+2439C>T
c.25453G>A (p.Val8485Ile)
c.24541G>A (p.Val8181Ile)
n.8213+2439C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151485775G>ACA1905679NEB,RIF1c.3872C>T
c.2162C>T
n.1382C>T
c.7268C>T
n.3454C>T
c.25563C>T (p.Tyr8521=)
c.19995C>T (p.Tyr6665=)
c.1964C>T
c.9009C>T (p.Tyr3003=)
c.2285C>T
c.2655+2440G>A
c.25668C>T (p.Tyr8556=)
c.25470C>T (p.Tyr8490=)
c.25377C>T (p.Tyr8459=)
c.25284C>T (p.Tyr8428=)
c.25191C>T (p.Tyr8397=)
c.25098C>T (p.Tyr8366=)
c.25005C>T (p.Tyr8335=)
c.24912C>T (p.Tyr8304=)
c.24834C>T (p.Tyr8278=)
c.24819C>T (p.Tyr8273=)
c.22647C>T (p.Tyr7549=)
c.23376C>T (p.Tyr7792=)
c.21189C>T (p.Tyr7063=)
n.7838+2440G>A
c.25452C>T (p.Tyr8484=)
c.24540C>T (p.Tyr8180=)
n.8213+2440G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.151485775G>CCA348769556NEB,RIF1c.3872C>G
c.2162C>G
n.1382C>G
c.7268C>G
n.3454C>G
c.25563C>G (p.Tyr8521Ter)
c.19995C>G (p.Tyr6665Ter)
c.1964C>G
c.9009C>G (p.Tyr3003Ter)
c.2285C>G
c.2655+2440G>C
c.25668C>G (p.Tyr8556Ter)
c.25470C>G (p.Tyr8490Ter)
c.25377C>G (p.Tyr8459Ter)
c.25284C>G (p.Tyr8428Ter)
c.25191C>G (p.Tyr8397Ter)
c.25098C>G (p.Tyr8366Ter)
c.25005C>G (p.Tyr8335Ter)
c.24912C>G (p.Tyr8304Ter)
c.24834C>G (p.Tyr8278Ter)
c.24819C>G (p.Tyr8273Ter)
c.22647C>G (p.Tyr7549Ter)
c.23376C>G (p.Tyr7792Ter)
c.21189C>G (p.Tyr7063Ter)
n.7838+2440G>C
c.25452C>G (p.Tyr8484Ter)
c.24540C>G (p.Tyr8180Ter)
n.8213+2440G>C
2g.151485775G=CA1298146112NEB,RIF1c.3872C=
c.2162C=
n.1382C=
c.7268C=
n.3454C=
c.25563C= (p.Tyr8521=)
c.19995C= (p.Tyr6665=)
c.1964C=
c.9009C= (p.Tyr3003=)
c.2285C=
c.2655+2440G=
c.25668C= (p.Tyr8556=)
c.25470C= (p.Tyr8490=)
c.25377C= (p.Tyr8459=)
c.25284C= (p.Tyr8428=)
c.25191C= (p.Tyr8397=)
c.25098C= (p.Tyr8366=)
c.25005C= (p.Tyr8335=)
c.24912C= (p.Tyr8304=)
c.24834C= (p.Tyr8278=)
c.24819C= (p.Tyr8273=)
c.22647C= (p.Tyr7549=)
c.23376C= (p.Tyr7792=)
c.21189C= (p.Tyr7063=)
n.7838+2440G=
c.25452C= (p.Tyr8484=)
c.24540C= (p.Tyr8180=)
n.8213+2440G=
 dbSNP
2g.151485775G>TCA348769555NEB,RIF1c.3872C>A
c.2162C>A
n.1382C>A
c.7268C>A
n.3454C>A
c.25563C>A (p.Tyr8521Ter)
c.19995C>A (p.Tyr6665Ter)
c.1964C>A
c.9009C>A (p.Tyr3003Ter)
c.2285C>A
c.2655+2440G>T
c.25668C>A (p.Tyr8556Ter)
c.25470C>A (p.Tyr8490Ter)
c.25377C>A (p.Tyr8459Ter)
c.25284C>A (p.Tyr8428Ter)
c.25191C>A (p.Tyr8397Ter)
c.25098C>A (p.Tyr8366Ter)
c.25005C>A (p.Tyr8335Ter)
c.24912C>A (p.Tyr8304Ter)
c.24834C>A (p.Tyr8278Ter)
c.24819C>A (p.Tyr8273Ter)
c.22647C>A (p.Tyr7549Ter)
c.23376C>A (p.Tyr7792Ter)
c.21189C>A (p.Tyr7063Ter)
n.7838+2440G>T
c.25452C>A (p.Tyr8484Ter)
c.24540C>A (p.Tyr8180Ter)
n.8213+2440G>T
 dbSNP gnomAD v4
2g.151485776T>ACA348769557NEB,RIF1c.3871A>T
c.2161A>T
n.1381A>T
c.7267A>T
n.3453A>T
c.25562A>T (p.Tyr8521Phe)
c.19994A>T (p.Tyr6665Phe)
c.1963A>T
c.9008A>T (p.Tyr3003Phe)
c.2284A>T
c.2655+2441T>A
c.25667A>T (p.Tyr8556Phe)
c.25469A>T (p.Tyr8490Phe)
c.25376A>T (p.Tyr8459Phe)
c.25283A>T (p.Tyr8428Phe)
c.25190A>T (p.Tyr8397Phe)
c.25097A>T (p.Tyr8366Phe)
c.25004A>T (p.Tyr8335Phe)
c.24911A>T (p.Tyr8304Phe)
c.24833A>T (p.Tyr8278Phe)
c.24818A>T (p.Tyr8273Phe)
c.22646A>T (p.Tyr7549Phe)
c.23375A>T (p.Tyr7792Phe)
c.21188A>T (p.Tyr7063Phe)
n.7838+2441T>A
c.25451A>T (p.Tyr8484Phe)
c.24539A>T (p.Tyr8180Phe)
n.8213+2441T>A
2g.151485776T>CCA348769558NEB,RIF1c.3871A>G
c.2161A>G
n.1381A>G
c.7267A>G
n.3453A>G
c.25562A>G (p.Tyr8521Cys)
c.19994A>G (p.Tyr6665Cys)
c.1963A>G
c.9008A>G (p.Tyr3003Cys)
c.2284A>G
c.2655+2441T>C
c.25667A>G (p.Tyr8556Cys)
c.25469A>G (p.Tyr8490Cys)
c.25376A>G (p.Tyr8459Cys)
c.25283A>G (p.Tyr8428Cys)
c.25190A>G (p.Tyr8397Cys)
c.25097A>G (p.Tyr8366Cys)
c.25004A>G (p.Tyr8335Cys)
c.24911A>G (p.Tyr8304Cys)
c.24833A>G (p.Tyr8278Cys)
c.24818A>G (p.Tyr8273Cys)
c.22646A>G (p.Tyr7549Cys)
c.23375A>G (p.Tyr7792Cys)
c.21188A>G (p.Tyr7063Cys)
n.7838+2441T>C
c.25451A>G (p.Tyr8484Cys)
c.24539A>G (p.Tyr8180Cys)
n.8213+2441T>C
 dbSNP gnomAD v4
2g.151485776T>GCA348769559NEB,RIF1c.3871A>C
c.2161A>C
n.1381A>C
c.7267A>C
n.3453A>C
c.25562A>C (p.Tyr8521Ser)
c.19994A>C (p.Tyr6665Ser)
c.1963A>C
c.9008A>C (p.Tyr3003Ser)
c.2284A>C
c.2655+2441T>G
c.25667A>C (p.Tyr8556Ser)
c.25469A>C (p.Tyr8490Ser)
c.25376A>C (p.Tyr8459Ser)
c.25283A>C (p.Tyr8428Ser)
c.25190A>C (p.Tyr8397Ser)
c.25097A>C (p.Tyr8366Ser)
c.25004A>C (p.Tyr8335Ser)
c.24911A>C (p.Tyr8304Ser)
c.24833A>C (p.Tyr8278Ser)
c.24818A>C (p.Tyr8273Ser)
c.22646A>C (p.Tyr7549Ser)
c.23375A>C (p.Tyr7792Ser)
c.21188A>C (p.Tyr7063Ser)
n.7838+2441T>G
c.25451A>C (p.Tyr8484Ser)
c.24539A>C (p.Tyr8180Ser)
n.8213+2441T>G
2g.151485776T=CA1298146113NEB,RIF1c.3871A=
c.2161A=
n.1381A=
c.7267A=
n.3453A=
c.25562A= (p.Tyr8521=)
c.19994A= (p.Tyr6665=)
c.1963A=
c.9008A= (p.Tyr3003=)
c.2284A=
c.2655+2441T=
c.25667A= (p.Tyr8556=)
c.25469A= (p.Tyr8490=)
c.25376A= (p.Tyr8459=)
c.25283A= (p.Tyr8428=)
c.25190A= (p.Tyr8397=)
c.25097A= (p.Tyr8366=)
c.25004A= (p.Tyr8335=)
c.24911A= (p.Tyr8304=)
c.24833A= (p.Tyr8278=)
c.24818A= (p.Tyr8273=)
c.22646A= (p.Tyr7549=)
c.23375A= (p.Tyr7792=)
c.21188A= (p.Tyr7063=)
n.7838+2441T=
c.25451A= (p.Tyr8484=)
c.24539A= (p.Tyr8180=)
n.8213+2441T=
 dbSNP
2g.151485777A>CCA348769560NEB,RIF1c.3870T>G
c.2160T>G
n.1380T>G
c.7266T>G
n.3452T>G
c.25561T>G (p.Tyr8521Asp)
c.19993T>G (p.Tyr6665Asp)
c.1962T>G
c.9007T>G (p.Tyr3003Asp)
c.2283T>G
c.2655+2442A>C
c.25666T>G (p.Tyr8556Asp)
c.25468T>G (p.Tyr8490Asp)
c.25375T>G (p.Tyr8459Asp)
c.25282T>G (p.Tyr8428Asp)
c.25189T>G (p.Tyr8397Asp)
c.25096T>G (p.Tyr8366Asp)
c.25003T>G (p.Tyr8335Asp)
c.24910T>G (p.Tyr8304Asp)
c.24832T>G (p.Tyr8278Asp)
c.24817T>G (p.Tyr8273Asp)
c.22645T>G (p.Tyr7549Asp)
c.23374T>G (p.Tyr7792Asp)
c.21187T>G (p.Tyr7063Asp)
n.7838+2442A>C
c.25450T>G (p.Tyr8484Asp)
c.24538T>G (p.Tyr8180Asp)
n.8213+2442A>C
2g.151485777A>GCA348769561NEB,RIF1c.3870T>C
c.2160T>C
n.1380T>C
c.7266T>C
n.3452T>C
c.25561T>C (p.Tyr8521His)
c.19993T>C (p.Tyr6665His)
c.1962T>C
c.9007T>C (p.Tyr3003His)
c.2283T>C
c.2655+2442A>G
c.25666T>C (p.Tyr8556His)
c.25468T>C (p.Tyr8490His)
c.25375T>C (p.Tyr8459His)
c.25282T>C (p.Tyr8428His)
c.25189T>C (p.Tyr8397His)
c.25096T>C (p.Tyr8366His)
c.25003T>C (p.Tyr8335His)
c.24910T>C (p.Tyr8304His)
c.24832T>C (p.Tyr8278His)
c.24817T>C (p.Tyr8273His)
c.22645T>C (p.Tyr7549His)
c.23374T>C (p.Tyr7792His)
c.21187T>C (p.Tyr7063His)
n.7838+2442A>G
c.25450T>C (p.Tyr8484His)
c.24538T>C (p.Tyr8180His)
n.8213+2442A>G
2g.151485777A>TCA348769562NEB,RIF1c.3870T>A
c.2160T>A
n.1380T>A
c.7266T>A
n.3452T>A
c.25561T>A (p.Tyr8521Asn)
c.19993T>A (p.Tyr6665Asn)
c.1962T>A
c.9007T>A (p.Tyr3003Asn)
c.2283T>A
c.2655+2442A>T
c.25666T>A (p.Tyr8556Asn)
c.25468T>A (p.Tyr8490Asn)
c.25375T>A (p.Tyr8459Asn)
c.25282T>A (p.Tyr8428Asn)
c.25189T>A (p.Tyr8397Asn)
c.25096T>A (p.Tyr8366Asn)
c.25003T>A (p.Tyr8335Asn)
c.24910T>A (p.Tyr8304Asn)
c.24832T>A (p.Tyr8278Asn)
c.24817T>A (p.Tyr8273Asn)
c.22645T>A (p.Tyr7549Asn)
c.23374T>A (p.Tyr7792Asn)
c.21187T>A (p.Tyr7063Asn)
n.7838+2442A>T
c.25450T>A (p.Tyr8484Asn)
c.24538T>A (p.Tyr8180Asn)
n.8213+2442A>T
2g.151485778G>ACA429233821NEB,RIF1c.3869C>T
c.2159C>T
n.1379C>T
c.7265C>T
n.3451C>T
c.25560C>T (p.Asn8520=)
c.19992C>T (p.Asn6664=)
c.1961C>T
c.9006C>T (p.Asn3002=)
c.2282C>T
c.2655+2443G>A
c.25665C>T (p.Asn8555=)
c.25467C>T (p.Asn8489=)
c.25374C>T (p.Asn8458=)
c.25281C>T (p.Asn8427=)
c.25188C>T (p.Asn8396=)
c.25095C>T (p.Asn8365=)
c.25002C>T (p.Asn8334=)
c.24909C>T (p.Asn8303=)
c.24831C>T (p.Asn8277=)
c.24816C>T (p.Asn8272=)
c.22644C>T (p.Asn7548=)
c.23373C>T (p.Asn7791=)
c.21186C>T (p.Asn7062=)
n.7838+2443G>A
c.25449C>T (p.Asn8483=)
c.24537C>T (p.Asn8179=)
n.8213+2443G>A
2g.151485778G>CCA1905680NEB,RIF1c.3869C>G
c.2159C>G
n.1379C>G
c.7265C>G
n.3451C>G
c.25560C>G (p.Asn8520Lys)
c.19992C>G (p.Asn6664Lys)
c.1961C>G
c.9006C>G (p.Asn3002Lys)
c.2282C>G
c.2655+2443G>C
c.25665C>G (p.Asn8555Lys)
c.25467C>G (p.Asn8489Lys)
c.25374C>G (p.Asn8458Lys)
c.25281C>G (p.Asn8427Lys)
c.25188C>G (p.Asn8396Lys)
c.25095C>G (p.Asn8365Lys)
c.25002C>G (p.Asn8334Lys)
c.24909C>G (p.Asn8303Lys)
c.24831C>G (p.Asn8277Lys)
c.24816C>G (p.Asn8272Lys)
c.22644C>G (p.Asn7548Lys)
c.23373C>G (p.Asn7791Lys)
c.21186C>G (p.Asn7062Lys)
n.7838+2443G>C
c.25449C>G (p.Asn8483Lys)
c.24537C>G (p.Asn8179Lys)
n.8213+2443G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.151485778G=CA1298146114NEB,RIF1c.3869C=
c.2159C=
n.1379C=
c.7265C=
n.3451C=
c.25560C= (p.Asn8520=)
c.19992C= (p.Asn6664=)
c.1961C=
c.9006C= (p.Asn3002=)
c.2282C=
c.2655+2443G=
c.25665C= (p.Asn8555=)
c.25467C= (p.Asn8489=)
c.25374C= (p.Asn8458=)
c.25281C= (p.Asn8427=)
c.25188C= (p.Asn8396=)
c.25095C= (p.Asn8365=)
c.25002C= (p.Asn8334=)
c.24909C= (p.Asn8303=)
c.24831C= (p.Asn8277=)
c.24816C= (p.Asn8272=)
c.22644C= (p.Asn7548=)
c.23373C= (p.Asn7791=)
c.21186C= (p.Asn7062=)
n.7838+2443G=
c.25449C= (p.Asn8483=)
c.24537C= (p.Asn8179=)
n.8213+2443G=
 dbSNP
2g.151485778G>TCA348769563NEB,RIF1c.3869C>A
c.2159C>A
n.1379C>A
c.7265C>A
n.3451C>A
c.25560C>A (p.Asn8520Lys)
c.19992C>A (p.Asn6664Lys)
c.1961C>A
c.9006C>A (p.Asn3002Lys)
c.2282C>A
c.2655+2443G>T
c.25665C>A (p.Asn8555Lys)
c.25467C>A (p.Asn8489Lys)
c.25374C>A (p.Asn8458Lys)
c.25281C>A (p.Asn8427Lys)
c.25188C>A (p.Asn8396Lys)
c.25095C>A (p.Asn8365Lys)
c.25002C>A (p.Asn8334Lys)
c.24909C>A (p.Asn8303Lys)
c.24831C>A (p.Asn8277Lys)
c.24816C>A (p.Asn8272Lys)
c.22644C>A (p.Asn7548Lys)
c.23373C>A (p.Asn7791Lys)
c.21186C>A (p.Asn7062Lys)
n.7838+2443G>T
c.25449C>A (p.Asn8483Lys)
c.24537C>A (p.Asn8179Lys)
n.8213+2443G>T
2g.151485779T>ACA348769564NEB,RIF1c.3868A>T
c.2158A>T
n.1378A>T
c.7264A>T
n.3450A>T
c.25559A>T (p.Asn8520Ile)
c.19991A>T (p.Asn6664Ile)
c.1960A>T
c.9005A>T (p.Asn3002Ile)
c.2281A>T
c.2655+2444T>A
c.25664A>T (p.Asn8555Ile)
c.25466A>T (p.Asn8489Ile)
c.25373A>T (p.Asn8458Ile)
c.25280A>T (p.Asn8427Ile)
c.25187A>T (p.Asn8396Ile)
c.25094A>T (p.Asn8365Ile)
c.25001A>T (p.Asn8334Ile)
c.24908A>T (p.Asn8303Ile)
c.24830A>T (p.Asn8277Ile)
c.24815A>T (p.Asn8272Ile)
c.22643A>T (p.Asn7548Ile)
c.23372A>T (p.Asn7791Ile)
c.21185A>T (p.Asn7062Ile)
n.7838+2444T>A
c.25448A>T (p.Asn8483Ile)
c.24536A>T (p.Asn8179Ile)
n.8213+2444T>A
2g.151485779T>CCA348769565NEB,RIF1c.3868A>G
c.2158A>G
n.1378A>G
c.7264A>G
n.3450A>G
c.25559A>G (p.Asn8520Ser)
c.19991A>G (p.Asn6664Ser)
c.1960A>G
c.9005A>G (p.Asn3002Ser)
c.2281A>G
c.2655+2444T>C
c.25664A>G (p.Asn8555Ser)
c.25466A>G (p.Asn8489Ser)
c.25373A>G (p.Asn8458Ser)
c.25280A>G (p.Asn8427Ser)
c.25187A>G (p.Asn8396Ser)
c.25094A>G (p.Asn8365Ser)
c.25001A>G (p.Asn8334Ser)
c.24908A>G (p.Asn8303Ser)
c.24830A>G (p.Asn8277Ser)
c.24815A>G (p.Asn8272Ser)
c.22643A>G (p.Asn7548Ser)
c.23372A>G (p.Asn7791Ser)
c.21185A>G (p.Asn7062Ser)
n.7838+2444T>C
c.25448A>G (p.Asn8483Ser)
c.24536A>G (p.Asn8179Ser)
n.8213+2444T>C
2g.151485779T>GCA348769566NEB,RIF1c.3868A>C
c.2158A>C
n.1378A>C
c.7264A>C
n.3450A>C
c.25559A>C (p.Asn8520Thr)
c.19991A>C (p.Asn6664Thr)
c.1960A>C
c.9005A>C (p.Asn3002Thr)
c.2281A>C
c.2655+2444T>G
c.25664A>C (p.Asn8555Thr)
c.25466A>C (p.Asn8489Thr)
c.25373A>C (p.Asn8458Thr)
c.25280A>C (p.Asn8427Thr)
c.25187A>C (p.Asn8396Thr)
c.25094A>C (p.Asn8365Thr)
c.25001A>C (p.Asn8334Thr)
c.24908A>C (p.Asn8303Thr)
c.24830A>C (p.Asn8277Thr)
c.24815A>C (p.Asn8272Thr)
c.22643A>C (p.Asn7548Thr)
c.23372A>C (p.Asn7791Thr)
c.21185A>C (p.Asn7062Thr)
n.7838+2444T>G
c.25448A>C (p.Asn8483Thr)
c.24536A>C (p.Asn8179Thr)
n.8213+2444T>G
2g.151485780T>ACA348769568NEB,RIF1c.3867A>T
c.2157A>T
n.1377A>T
c.7263A>T
n.3449A>T
c.25558A>T (p.Asn8520Tyr)
c.19990A>T (p.Asn6664Tyr)
c.1959A>T
c.9004A>T (p.Asn3002Tyr)
c.2280A>T
c.2655+2445T>A
c.25663A>T (p.Asn8555Tyr)
c.25465A>T (p.Asn8489Tyr)
c.25372A>T (p.Asn8458Tyr)
c.25279A>T (p.Asn8427Tyr)
c.25186A>T (p.Asn8396Tyr)
c.25093A>T (p.Asn8365Tyr)
c.25000A>T (p.Asn8334Tyr)
c.24907A>T (p.Asn8303Tyr)
c.24829A>T (p.Asn8277Tyr)
c.24814A>T (p.Asn8272Tyr)
c.22642A>T (p.Asn7548Tyr)
c.23371A>T (p.Asn7791Tyr)
c.21184A>T (p.Asn7062Tyr)
n.7838+2445T>A
c.25447A>T (p.Asn8483Tyr)
c.24535A>T (p.Asn8179Tyr)
n.8213+2445T>A
2g.151485780T>CCA348769569NEB,RIF1c.3867A>G
c.2157A>G
n.1377A>G
c.7263A>G
n.3449A>G
c.25558A>G (p.Asn8520Asp)
c.19990A>G (p.Asn6664Asp)
c.1959A>G
c.9004A>G (p.Asn3002Asp)
c.2280A>G
c.2655+2445T>C
c.25663A>G (p.Asn8555Asp)
c.25465A>G (p.Asn8489Asp)
c.25372A>G (p.Asn8458Asp)
c.25279A>G (p.Asn8427Asp)
c.25186A>G (p.Asn8396Asp)
c.25093A>G (p.Asn8365Asp)
c.25000A>G (p.Asn8334Asp)
c.24907A>G (p.Asn8303Asp)
c.24829A>G (p.Asn8277Asp)
c.24814A>G (p.Asn8272Asp)
c.22642A>G (p.Asn7548Asp)
c.23371A>G (p.Asn7791Asp)
c.21184A>G (p.Asn7062Asp)
n.7838+2445T>C
c.25447A>G (p.Asn8483Asp)
c.24535A>G (p.Asn8179Asp)
n.8213+2445T>C
2g.151485780T>GCA348769567NEB,RIF1c.3867A>C
c.2157A>C
n.1377A>C
c.7263A>C
n.3449A>C
c.25558A>C (p.Asn8520His)
c.19990A>C (p.Asn6664His)
c.1959A>C
c.9004A>C (p.Asn3002His)
c.2280A>C
c.2655+2445T>G
c.25663A>C (p.Asn8555His)
c.25465A>C (p.Asn8489His)
c.25372A>C (p.Asn8458His)
c.25279A>C (p.Asn8427His)
c.25186A>C (p.Asn8396His)
c.25093A>C (p.Asn8365His)
c.25000A>C (p.Asn8334His)
c.24907A>C (p.Asn8303His)
c.24829A>C (p.Asn8277His)
c.24814A>C (p.Asn8272His)
c.22642A>C (p.Asn7548His)
c.23371A>C (p.Asn7791His)
c.21184A>C (p.Asn7062His)
n.7838+2445T>G
c.25447A>C (p.Asn8483His)
c.24535A>C (p.Asn8179His)
n.8213+2445T>G
2g.151485781G>ACA429233823NEB,RIF1c.3866C>T
c.2156C>T
n.1376C>T
c.7262C>T
n.3448C>T
c.25557C>T (p.Ala8519=)
c.19989C>T (p.Ala6663=)
c.1958C>T
c.9003C>T (p.Ala3001=)
c.2279C>T
c.2655+2446G>A
c.25662C>T (p.Ala8554=)
c.25464C>T (p.Ala8488=)
c.25371C>T (p.Ala8457=)
c.25278C>T (p.Ala8426=)
c.25185C>T (p.Ala8395=)
c.25092C>T (p.Ala8364=)
c.24999C>T (p.Ala8333=)
c.24906C>T (p.Ala8302=)
c.24828C>T (p.Ala8276=)
c.24813C>T (p.Ala8271=)
c.22641C>T (p.Ala7547=)
c.23370C>T (p.Ala7790=)
c.21183C>T (p.Ala7061=)
n.7838+2446G>A
c.25446C>T (p.Ala8482=)
c.24534C>T (p.Ala8178=)
n.8213+2446G>A
 dbSNP
2g.151485781G>CCA429233824NEB,RIF1c.3866C>G
c.2156C>G
n.1376C>G
c.7262C>G
n.3448C>G
c.25557C>G (p.Ala8519=)
c.19989C>G (p.Ala6663=)
c.1958C>G
c.9003C>G (p.Ala3001=)
c.2279C>G
c.2655+2446G>C
c.25662C>G (p.Ala8554=)
c.25464C>G (p.Ala8488=)
c.25371C>G (p.Ala8457=)
c.25278C>G (p.Ala8426=)
c.25185C>G (p.Ala8395=)
c.25092C>G (p.Ala8364=)
c.24999C>G (p.Ala8333=)
c.24906C>G (p.Ala8302=)
c.24828C>G (p.Ala8276=)
c.24813C>G (p.Ala8271=)
c.22641C>G (p.Ala7547=)
c.23370C>G (p.Ala7790=)
c.21183C>G (p.Ala7061=)
n.7838+2446G>C
c.25446C>G (p.Ala8482=)
c.24534C>G (p.Ala8178=)
n.8213+2446G>C
2g.151485781G=CA1298146115NEB,RIF1c.3866C=
c.2156C=
n.1376C=
c.7262C=
n.3448C=
c.25557C= (p.Ala8519=)
c.19989C= (p.Ala6663=)
c.1958C=
c.9003C= (p.Ala3001=)
c.2279C=
c.2655+2446G=
c.25662C= (p.Ala8554=)
c.25464C= (p.Ala8488=)
c.25371C= (p.Ala8457=)
c.25278C= (p.Ala8426=)
c.25185C= (p.Ala8395=)
c.25092C= (p.Ala8364=)
c.24999C= (p.Ala8333=)
c.24906C= (p.Ala8302=)
c.24828C= (p.Ala8276=)
c.24813C= (p.Ala8271=)
c.22641C= (p.Ala7547=)
c.23370C= (p.Ala7790=)
c.21183C= (p.Ala7061=)
n.7838+2446G=
c.25446C= (p.Ala8482=)
c.24534C= (p.Ala8178=)
n.8213+2446G=
 dbSNP
2g.151485781G>TCA429233825NEB,RIF1c.3866C>A
c.2156C>A
n.1376C>A
c.7262C>A
n.3448C>A
c.25557C>A (p.Ala8519=)
c.19989C>A (p.Ala6663=)
c.1958C>A
c.9003C>A (p.Ala3001=)
c.2279C>A
c.2655+2446G>T
c.25662C>A (p.Ala8554=)
c.25464C>A (p.Ala8488=)
c.25371C>A (p.Ala8457=)
c.25278C>A (p.Ala8426=)
c.25185C>A (p.Ala8395=)
c.25092C>A (p.Ala8364=)
c.24999C>A (p.Ala8333=)
c.24906C>A (p.Ala8302=)
c.24828C>A (p.Ala8276=)
c.24813C>A (p.Ala8271=)
c.22641C>A (p.Ala7547=)
c.23370C>A (p.Ala7790=)
c.21183C>A (p.Ala7061=)
n.7838+2446G>T
c.25446C>A (p.Ala8482=)
c.24534C>A (p.Ala8178=)
n.8213+2446G>T
2g.151485782dupCA2972975789NEB,RIF1c.3866dup
c.2156dup
n.1376dup
c.7262dup
n.3448dup
c.25557dup (p.Asn8520GlnfsTer4)
c.19989dup (p.Asn6664GlnfsTer4)
c.1958dup
c.9003dup (p.Asn3002GlnfsTer4)
c.2279dup
c.2655+2447dup
c.25662dup (p.Asn8555GlnfsTer4)
c.25464dup (p.Asn8489GlnfsTer4)
c.25371dup (p.Asn8458GlnfsTer4)
c.25278dup (p.Asn8427GlnfsTer4)
c.25185dup (p.Asn8396GlnfsTer4)
c.25092dup (p.Asn8365GlnfsTer4)
c.24999dup (p.Asn8334GlnfsTer4)
c.24906dup (p.Asn8303GlnfsTer4)
c.24828dup (p.Asn8277GlnfsTer4)
c.24813dup (p.Asn8272GlnfsTer4)
c.22641dup (p.Asn7548GlnfsTer4)
c.23370dup (p.Asn7791GlnfsTer4)
c.21183dup (p.Asn7062GlnfsTer4)
n.7838+2447dup
c.25446dup (p.Asn8483GlnfsTer4)
c.24534dup (p.Asn8179GlnfsTer4)
n.8213+2447dup
2g.151485782G>ACA348769570NEB,RIF1c.3865C>T
c.2155C>T
n.1375C>T
c.7261C>T
n.3447C>T
c.25556C>T (p.Ala8519Val)
c.19988C>T (p.Ala6663Val)
c.1957C>T
c.9002C>T (p.Ala3001Val)
c.2278C>T
c.2655+2447G>A
c.25661C>T (p.Ala8554Val)
c.25463C>T (p.Ala8488Val)
c.25370C>T (p.Ala8457Val)
c.25277C>T (p.Ala8426Val)
c.25184C>T (p.Ala8395Val)
c.25091C>T (p.Ala8364Val)
c.24998C>T (p.Ala8333Val)
c.24905C>T (p.Ala8302Val)
c.24827C>T (p.Ala8276Val)
c.24812C>T (p.Ala8271Val)
c.22640C>T (p.Ala7547Val)
c.23369C>T (p.Ala7790Val)
c.21182C>T (p.Ala7061Val)
n.7838+2447G>A
c.25445C>T (p.Ala8482Val)
c.24533C>T (p.Ala8178Val)
n.8213+2447G>A
2g.151485782G>CCA348769571NEB,RIF1c.3865C>G
c.2155C>G
n.1375C>G
c.7261C>G
n.3447C>G
c.25556C>G (p.Ala8519Gly)
c.19988C>G (p.Ala6663Gly)
c.1957C>G
c.9002C>G (p.Ala3001Gly)
c.2278C>G
c.2655+2447G>C
c.25661C>G (p.Ala8554Gly)
c.25463C>G (p.Ala8488Gly)
c.25370C>G (p.Ala8457Gly)
c.25277C>G (p.Ala8426Gly)
c.25184C>G (p.Ala8395Gly)
c.25091C>G (p.Ala8364Gly)
c.24998C>G (p.Ala8333Gly)
c.24905C>G (p.Ala8302Gly)
c.24827C>G (p.Ala8276Gly)
c.24812C>G (p.Ala8271Gly)
c.22640C>G (p.Ala7547Gly)
c.23369C>G (p.Ala7790Gly)
c.21182C>G (p.Ala7061Gly)
n.7838+2447G>C
c.25445C>G (p.Ala8482Gly)
c.24533C>G (p.Ala8178Gly)
n.8213+2447G>C
2g.151485782G=CA1298146116NEB,RIF1c.3865C=
c.2155C=
n.1375C=
c.7261C=
n.3447C=
c.25556C= (p.Ala8519=)
c.19988C= (p.Ala6663=)
c.1957C=
c.9002C= (p.Ala3001=)
c.2278C=
c.2655+2447G=
c.25661C= (p.Ala8554=)
c.25463C= (p.Ala8488=)
c.25370C= (p.Ala8457=)
c.25277C= (p.Ala8426=)
c.25184C= (p.Ala8395=)
c.25091C= (p.Ala8364=)
c.24998C= (p.Ala8333=)
c.24905C= (p.Ala8302=)
c.24827C= (p.Ala8276=)
c.24812C= (p.Ala8271=)
c.22640C= (p.Ala7547=)
c.23369C= (p.Ala7790=)
c.21182C= (p.Ala7061=)
n.7838+2447G=
c.25445C= (p.Ala8482=)
c.24533C= (p.Ala8178=)
n.8213+2447G=
 dbSNP
2g.151485782G>TCA348769572NEB,RIF1c.3865C>A
c.2155C>A
n.1375C>A
c.7261C>A
n.3447C>A
c.25556C>A (p.Ala8519Asp)
c.19988C>A (p.Ala6663Asp)
c.1957C>A
c.9002C>A (p.Ala3001Asp)
c.2278C>A
c.2655+2447G>T
c.25661C>A (p.Ala8554Asp)
c.25463C>A (p.Ala8488Asp)
c.25370C>A (p.Ala8457Asp)
c.25277C>A (p.Ala8426Asp)
c.25184C>A (p.Ala8395Asp)
c.25091C>A (p.Ala8364Asp)
c.24998C>A (p.Ala8333Asp)
c.24905C>A (p.Ala8302Asp)
c.24827C>A (p.Ala8276Asp)
c.24812C>A (p.Ala8271Asp)
c.22640C>A (p.Ala7547Asp)
c.23369C>A (p.Ala7790Asp)
c.21182C>A (p.Ala7061Asp)
n.7838+2447G>T
c.25445C>A (p.Ala8482Asp)
c.24533C>A (p.Ala8178Asp)
n.8213+2447G>T
 dbSNP
2g.151485783C>ACA348769573NEB,RIF1c.3864G>T
c.2154G>T
n.1374G>T
c.7260G>T
n.3446G>T
c.25555G>T (p.Ala8519Ser)
c.19987G>T (p.Ala6663Ser)
c.1956G>T
c.9001G>T (p.Ala3001Ser)
c.2277G>T
c.2655+2448C>A
c.25660G>T (p.Ala8554Ser)
c.25462G>T (p.Ala8488Ser)
c.25369G>T (p.Ala8457Ser)
c.25276G>T (p.Ala8426Ser)
c.25183G>T (p.Ala8395Ser)
c.25090G>T (p.Ala8364Ser)
c.24997G>T (p.Ala8333Ser)
c.24904G>T (p.Ala8302Ser)
c.24826G>T (p.Ala8276Ser)
c.24811G>T (p.Ala8271Ser)
c.22639G>T (p.Ala7547Ser)
c.23368G>T (p.Ala7790Ser)
c.21181G>T (p.Ala7061Ser)
n.7838+2448C>A
c.25444G>T (p.Ala8482Ser)
c.24532G>T (p.Ala8178Ser)
n.8213+2448C>A
2g.151485783C=CA1298146117NEB,RIF1c.3864G=
c.2154G=
n.1374G=
c.7260G=
n.3446G=
c.25555G= (p.Ala8519=)
c.19987G= (p.Ala6663=)
c.1956G=
c.9001G= (p.Ala3001=)
c.2277G=
c.2655+2448C=
c.25660G= (p.Ala8554=)
c.25462G= (p.Ala8488=)
c.25369G= (p.Ala8457=)
c.25276G= (p.Ala8426=)
c.25183G= (p.Ala8395=)
c.25090G= (p.Ala8364=)
c.24997G= (p.Ala8333=)
c.24904G= (p.Ala8302=)
c.24826G= (p.Ala8276=)
c.24811G= (p.Ala8271=)
c.22639G= (p.Ala7547=)
c.23368G= (p.Ala7790=)
c.21181G= (p.Ala7061=)
n.7838+2448C=
c.25444G= (p.Ala8482=)
c.24532G= (p.Ala8178=)
n.8213+2448C=
 dbSNP
2g.151485783C>GCA348769574NEB,RIF1c.3864G>C
c.2154G>C
n.1374G>C
c.7260G>C
n.3446G>C
c.25555G>C (p.Ala8519Pro)
c.19987G>C (p.Ala6663Pro)
c.1956G>C
c.9001G>C (p.Ala3001Pro)
c.2277G>C
c.2655+2448C>G
c.25660G>C (p.Ala8554Pro)
c.25462G>C (p.Ala8488Pro)
c.25369G>C (p.Ala8457Pro)
c.25276G>C (p.Ala8426Pro)
c.25183G>C (p.Ala8395Pro)
c.25090G>C (p.Ala8364Pro)
c.24997G>C (p.Ala8333Pro)
c.24904G>C (p.Ala8302Pro)
c.24826G>C (p.Ala8276Pro)
c.24811G>C (p.Ala8271Pro)
c.22639G>C (p.Ala7547Pro)
c.23368G>C (p.Ala7790Pro)
c.21181G>C (p.Ala7061Pro)
n.7838+2448C>G
c.25444G>C (p.Ala8482Pro)
c.24532G>C (p.Ala8178Pro)
n.8213+2448C>G
2g.151485783C>TCA1905681NEB,RIF1c.3864G>A
c.2154G>A
n.1374G>A
c.7260G>A
n.3446G>A
c.25555G>A (p.Ala8519Thr)
c.19987G>A (p.Ala6663Thr)
c.1956G>A
c.9001G>A (p.Ala3001Thr)
c.2277G>A
c.2655+2448C>T
c.25660G>A (p.Ala8554Thr)
c.25462G>A (p.Ala8488Thr)
c.25369G>A (p.Ala8457Thr)
c.25276G>A (p.Ala8426Thr)
c.25183G>A (p.Ala8395Thr)
c.25090G>A (p.Ala8364Thr)
c.24997G>A (p.Ala8333Thr)
c.24904G>A (p.Ala8302Thr)
c.24826G>A (p.Ala8276Thr)
c.24811G>A (p.Ala8271Thr)
c.22639G>A (p.Ala7547Thr)
c.23368G>A (p.Ala7790Thr)
c.21181G>A (p.Ala7061Thr)
n.7838+2448C>T
c.25444G>A (p.Ala8482Thr)
c.24532G>A (p.Ala8178Thr)
n.8213+2448C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151485784T>ACA429233826NEB,RIF1c.3863A>T
c.2153A>T
n.1373A>T
c.7259A>T
n.3445A>T
c.25554A>T (p.Pro8518=)
c.19986A>T (p.Pro6662=)
c.1955A>T
c.9000A>T (p.Pro3000=)
c.2276A>T
c.2655+2449T>A
c.25659A>T (p.Pro8553=)
c.25461A>T (p.Pro8487=)
c.25368A>T (p.Pro8456=)
c.25275A>T (p.Pro8425=)
c.25182A>T (p.Pro8394=)
c.25089A>T (p.Pro8363=)
c.24996A>T (p.Pro8332=)
c.24903A>T (p.Pro8301=)
c.24825A>T (p.Pro8275=)
c.24810A>T (p.Pro8270=)
c.22638A>T (p.Pro7546=)
c.23367A>T (p.Pro7789=)
c.21180A>T (p.Pro7060=)
n.7838+2449T>A
c.25443A>T (p.Pro8481=)
c.24531A>T (p.Pro8177=)
n.8213+2449T>A
2g.151485784T>CCA429233827NEB,RIF1c.3863A>G
c.2153A>G
n.1373A>G
c.7259A>G
n.3445A>G
c.25554A>G (p.Pro8518=)
c.19986A>G (p.Pro6662=)
c.1955A>G
c.9000A>G (p.Pro3000=)
c.2276A>G
c.2655+2449T>C
c.25659A>G (p.Pro8553=)
c.25461A>G (p.Pro8487=)
c.25368A>G (p.Pro8456=)
c.25275A>G (p.Pro8425=)
c.25182A>G (p.Pro8394=)
c.25089A>G (p.Pro8363=)
c.24996A>G (p.Pro8332=)
c.24903A>G (p.Pro8301=)
c.24825A>G (p.Pro8275=)
c.24810A>G (p.Pro8270=)
c.22638A>G (p.Pro7546=)
c.23367A>G (p.Pro7789=)
c.21180A>G (p.Pro7060=)
n.7838+2449T>C
c.25443A>G (p.Pro8481=)
c.24531A>G (p.Pro8177=)
n.8213+2449T>C
 ClinVar
2g.151485784T>GCA429233828NEB,RIF1c.3863A>C
c.2153A>C
n.1373A>C
c.7259A>C
n.3445A>C
c.25554A>C (p.Pro8518=)
c.19986A>C (p.Pro6662=)
c.1955A>C
c.9000A>C (p.Pro3000=)
c.2276A>C
c.2655+2449T>G
c.25659A>C (p.Pro8553=)
c.25461A>C (p.Pro8487=)
c.25368A>C (p.Pro8456=)
c.25275A>C (p.Pro8425=)
c.25182A>C (p.Pro8394=)
c.25089A>C (p.Pro8363=)
c.24996A>C (p.Pro8332=)
c.24903A>C (p.Pro8301=)
c.24825A>C (p.Pro8275=)
c.24810A>C (p.Pro8270=)
c.22638A>C (p.Pro7546=)
c.23367A>C (p.Pro7789=)
c.21180A>C (p.Pro7060=)
n.7838+2449T>G
c.25443A>C (p.Pro8481=)
c.24531A>C (p.Pro8177=)
n.8213+2449T>G
2g.151485785G>ACA348769575NEB,RIF1c.3862C>T
c.2152C>T
n.1372C>T
c.7258C>T
n.3444C>T
c.25553C>T (p.Pro8518Leu)
c.19985C>T (p.Pro6662Leu)
c.1954C>T
c.8999C>T (p.Pro3000Leu)
c.2275C>T
c.2655+2450G>A
c.25658C>T (p.Pro8553Leu)
c.25460C>T (p.Pro8487Leu)
c.25367C>T (p.Pro8456Leu)
c.25274C>T (p.Pro8425Leu)
c.25181C>T (p.Pro8394Leu)
c.25088C>T (p.Pro8363Leu)
c.24995C>T (p.Pro8332Leu)
c.24902C>T (p.Pro8301Leu)
c.24824C>T (p.Pro8275Leu)
c.24809C>T (p.Pro8270Leu)
c.22637C>T (p.Pro7546Leu)
c.23366C>T (p.Pro7789Leu)
c.21179C>T (p.Pro7060Leu)
n.7838+2450G>A
c.25442C>T (p.Pro8481Leu)
c.24530C>T (p.Pro8177Leu)
n.8213+2450G>A
2g.151485785G>CCA348769576NEB,RIF1c.3862C>G
c.2152C>G
n.1372C>G
c.7258C>G
n.3444C>G
c.25553C>G (p.Pro8518Arg)
c.19985C>G (p.Pro6662Arg)
c.1954C>G
c.8999C>G (p.Pro3000Arg)
c.2275C>G
c.2655+2450G>C
c.25658C>G (p.Pro8553Arg)
c.25460C>G (p.Pro8487Arg)
c.25367C>G (p.Pro8456Arg)
c.25274C>G (p.Pro8425Arg)
c.25181C>G (p.Pro8394Arg)
c.25088C>G (p.Pro8363Arg)
c.24995C>G (p.Pro8332Arg)
c.24902C>G (p.Pro8301Arg)
c.24824C>G (p.Pro8275Arg)
c.24809C>G (p.Pro8270Arg)
c.22637C>G (p.Pro7546Arg)
c.23366C>G (p.Pro7789Arg)
c.21179C>G (p.Pro7060Arg)
n.7838+2450G>C
c.25442C>G (p.Pro8481Arg)
c.24530C>G (p.Pro8177Arg)
n.8213+2450G>C
2g.151485785G>TCA348769577NEB,RIF1c.3862C>A
c.2152C>A
n.1372C>A
c.7258C>A
n.3444C>A
c.25553C>A (p.Pro8518Gln)
c.19985C>A (p.Pro6662Gln)
c.1954C>A
c.8999C>A (p.Pro3000Gln)
c.2275C>A
c.2655+2450G>T
c.25658C>A (p.Pro8553Gln)
c.25460C>A (p.Pro8487Gln)
c.25367C>A (p.Pro8456Gln)
c.25274C>A (p.Pro8425Gln)
c.25181C>A (p.Pro8394Gln)
c.25088C>A (p.Pro8363Gln)
c.24995C>A (p.Pro8332Gln)
c.24902C>A (p.Pro8301Gln)
c.24824C>A (p.Pro8275Gln)
c.24809C>A (p.Pro8270Gln)
c.22637C>A (p.Pro7546Gln)
c.23366C>A (p.Pro7789Gln)
c.21179C>A (p.Pro7060Gln)
n.7838+2450G>T
c.25442C>A (p.Pro8481Gln)
c.24530C>A (p.Pro8177Gln)
n.8213+2450G>T
2g.151485787dupCA2972975791NEB,RIF1c.3862dup
c.2152dup
n.1372dup
c.7258dup
n.3444dup
c.25553dup (p.Ala8519SerfsTer5)
c.19985dup (p.Ala6663SerfsTer5)
c.1954dup
c.8999dup (p.Ala3001SerfsTer5)
c.2275dup
c.2655+2452dup
c.25658dup (p.Ala8554SerfsTer5)
c.25460dup (p.Ala8488SerfsTer5)
c.25367dup (p.Ala8457SerfsTer5)
c.25274dup (p.Ala8426SerfsTer5)
c.25181dup (p.Ala8395SerfsTer5)
c.25088dup (p.Ala8364SerfsTer5)
c.24995dup (p.Ala8333SerfsTer5)
c.24902dup (p.Ala8302SerfsTer5)
c.24824dup (p.Ala8276SerfsTer5)
c.24809dup (p.Ala8271SerfsTer5)
c.22637dup (p.Ala7547SerfsTer5)
c.23366dup (p.Ala7790SerfsTer5)
c.21179dup (p.Ala7061SerfsTer5)
n.7838+2452dup
c.25442dup (p.Ala8482SerfsTer5)
c.24530dup (p.Ala8178SerfsTer5)
n.8213+2452dup
2g.151485786G>ACA348769578NEB,RIF1c.3861C>T
c.2151C>T
n.1371C>T
c.7257C>T
n.3443C>T
c.25552C>T (p.Pro8518Ser)
c.19984C>T (p.Pro6662Ser)
c.1953C>T
c.8998C>T (p.Pro3000Ser)
c.2274C>T
c.2655+2451G>A
c.25657C>T (p.Pro8553Ser)
c.25459C>T (p.Pro8487Ser)
c.25366C>T (p.Pro8456Ser)
c.25273C>T (p.Pro8425Ser)
c.25180C>T (p.Pro8394Ser)
c.25087C>T (p.Pro8363Ser)
c.24994C>T (p.Pro8332Ser)
c.24901C>T (p.Pro8301Ser)
c.24823C>T (p.Pro8275Ser)
c.24808C>T (p.Pro8270Ser)
c.22636C>T (p.Pro7546Ser)
c.23365C>T (p.Pro7789Ser)
c.21178C>T (p.Pro7060Ser)
n.7838+2451G>A
c.25441C>T (p.Pro8481Ser)
c.24529C>T (p.Pro8177Ser)
n.8213+2451G>A
2g.151485786G>CCA348769579NEB,RIF1c.3861C>G
c.2151C>G
n.1371C>G
c.7257C>G
n.3443C>G
c.25552C>G (p.Pro8518Ala)
c.19984C>G (p.Pro6662Ala)
c.1953C>G
c.8998C>G (p.Pro3000Ala)
c.2274C>G
c.2655+2451G>C
c.25657C>G (p.Pro8553Ala)
c.25459C>G (p.Pro8487Ala)
c.25366C>G (p.Pro8456Ala)
c.25273C>G (p.Pro8425Ala)
c.25180C>G (p.Pro8394Ala)
c.25087C>G (p.Pro8363Ala)
c.24994C>G (p.Pro8332Ala)
c.24901C>G (p.Pro8301Ala)
c.24823C>G (p.Pro8275Ala)
c.24808C>G (p.Pro8270Ala)
c.22636C>G (p.Pro7546Ala)
c.23365C>G (p.Pro7789Ala)
c.21178C>G (p.Pro7060Ala)
n.7838+2451G>C
c.25441C>G (p.Pro8481Ala)
c.24529C>G (p.Pro8177Ala)
n.8213+2451G>C
2g.151485786G>TCA348769580NEB,RIF1c.3861C>A
c.2151C>A
n.1371C>A
c.7257C>A
n.3443C>A
c.25552C>A (p.Pro8518Thr)
c.19984C>A (p.Pro6662Thr)
c.1953C>A
c.8998C>A (p.Pro3000Thr)
c.2274C>A
c.2655+2451G>T
c.25657C>A (p.Pro8553Thr)
c.25459C>A (p.Pro8487Thr)
c.25366C>A (p.Pro8456Thr)
c.25273C>A (p.Pro8425Thr)
c.25180C>A (p.Pro8394Thr)
c.25087C>A (p.Pro8363Thr)
c.24994C>A (p.Pro8332Thr)
c.24901C>A (p.Pro8301Thr)
c.24823C>A (p.Pro8275Thr)
c.24808C>A (p.Pro8270Thr)
c.22636C>A (p.Pro7546Thr)
c.23365C>A (p.Pro7789Thr)
c.21178C>A (p.Pro7060Thr)
n.7838+2451G>T
c.25441C>A (p.Pro8481Thr)
c.24529C>A (p.Pro8177Thr)
n.8213+2451G>T
2g.151485787G>ACA429233832NEB,RIF1c.3860C>T
c.2150C>T
n.1370C>T
c.7256C>T
n.3442C>T
c.25551C>T (p.Leu8517=)
c.19983C>T (p.Leu6661=)
c.1952C>T
c.8997C>T (p.Leu2999=)
c.2273C>T
c.2655+2452G>A
c.25656C>T (p.Leu8552=)
c.25458C>T (p.Leu8486=)
c.25365C>T (p.Leu8455=)
c.25272C>T (p.Leu8424=)
c.25179C>T (p.Leu8393=)
c.25086C>T (p.Leu8362=)
c.24993C>T (p.Leu8331=)
c.24900C>T (p.Leu8300=)
c.24822C>T (p.Leu8274=)
c.24807C>T (p.Leu8269=)
c.22635C>T (p.Leu7545=)
c.23364C>T (p.Leu7788=)
c.21177C>T (p.Leu7059=)
n.7838+2452G>A
c.25440C>T (p.Leu8480=)
c.24528C>T (p.Leu8176=)
n.8213+2452G>A
 ClinVar dbSNP
2g.151485787G>CCA429233834NEB,RIF1c.3860C>G
c.2150C>G
n.1370C>G
c.7256C>G
n.3442C>G
c.25551C>G (p.Leu8517=)
c.19983C>G (p.Leu6661=)
c.1952C>G
c.8997C>G (p.Leu2999=)
c.2273C>G
c.2655+2452G>C
c.25656C>G (p.Leu8552=)
c.25458C>G (p.Leu8486=)
c.25365C>G (p.Leu8455=)
c.25272C>G (p.Leu8424=)
c.25179C>G (p.Leu8393=)
c.25086C>G (p.Leu8362=)
c.24993C>G (p.Leu8331=)
c.24900C>G (p.Leu8300=)
c.24822C>G (p.Leu8274=)
c.24807C>G (p.Leu8269=)
c.22635C>G (p.Leu7545=)
c.23364C>G (p.Leu7788=)
c.21177C>G (p.Leu7059=)
n.7838+2452G>C
c.25440C>G (p.Leu8480=)
c.24528C>G (p.Leu8176=)
n.8213+2452G>C

Number of alleles fetched