Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2884437_2884824delCA2739276078CDKN1Cn.143-684_143-297del
c.255+384_256-297del (n.255+384_256-297del)
c.672_820+239del
c.639_787+239del
 ClinVar
11g.2884729_2884793delCA2612014384CDKN1Cn.143-652_143-588del
c.255+416_255+480del (n.255+416_255+480del)
c.704_768del (p.Gln235ArgfsTer29)
c.671_735del (p.Gln224ArgfsTer29)
 gnomAD v4
11g.2884734_2884798delCA2612014390CDKN1Cn.143-660_143-596del
c.255+408_255+472del (n.255+408_255+472del)
c.696_760del (p.Gln232HisfsTer?)
c.663_727del (p.Gln221HisfsTer?)
 gnomAD v4
11g.2884790delCA2695212972CDKN1Cn.143-655del
c.255+413del (n.255+413del)
c.701del (p.Gly234AlafsTer?)
c.668del (p.Gly223AlafsTer?)
11g.2884790C>ACA379145817CDKN1Cn.143-656G>T
c.255+412G>T (n.255+412G>T)
c.700G>T (p.Gly234Cys)
c.667G>T (p.Gly223Cys)
 ClinVar dbSNP gnomAD v4
11g.2884790C=CA1948368347CDKN1Cn.143-656G=
c.255+412G= (n.255+412G=)
c.700G= (p.Gly234=)
c.667G= (p.Gly223=)
11g.2884790C>GCA379145818CDKN1Cn.143-656G>C
c.255+412G>C (n.255+412G>C)
c.700G>C (p.Gly234Arg)
c.667G>C (p.Gly223Arg)
11g.2884790C>TCA379145820CDKN1Cn.143-656G>A
c.255+412G>A (n.255+412G>A)
c.700G>A (p.Gly234Ser)
c.667G>A (p.Gly223Ser)
 ClinVar gnomAD v4
11g.2884791delCA2612014406CDKN1Cn.143-657del
c.255+411del (n.255+411del)
c.699del (p.Gly234AlafsTer?)
c.666del (p.Gly223AlafsTer?)
 gnomAD v4
11g.2884791G>ACA472483438CDKN1Cn.143-657C>T
c.255+411C>T (n.255+411C>T)
c.699C>T (p.Arg233=)
c.666C>T (p.Arg222=)
 ClinVar dbSNP gnomAD v4
11g.2884791G>CCA5822188CDKN1Cn.143-657C>G
c.255+411C>G (n.255+411C>G)
c.699C>G (p.Arg233=)
c.666C>G (p.Arg222=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884791G=CA1948368348CDKN1Cn.143-657C=
c.255+411C= (n.255+411C=)
c.699C= (p.Arg233=)
c.666C= (p.Arg222=)
11g.2884791G>TCA472483439CDKN1Cn.143-657C>A
c.255+411C>A (n.255+411C>A)
c.699C>A (p.Arg233=)
c.666C>A (p.Arg222=)
 gnomAD v4
11g.2884791_2884792delinsCTCA658656112CDKN1Cn.143-658_143-657delinsAG
c.255+410_255+411delinsAG (n.255+410_255+411delinsAG)
c.698_699delinsAG (p.Arg233Gln)
c.665_666delinsAG (p.Arg222Gln)
 ClinVar dbSNP
11g.2884791_2884792delinsGCCA1948368349CDKN1Cn.143-658_143-657delinsGC
c.255+410_255+411delinsGC (n.255+410_255+411delinsGC)
c.698_699delinsGC (p.Arg233=)
c.665_666delinsGC (p.Arg222=)
11g.2884792C>ACA379145825CDKN1Cn.143-658G>T
c.255+410G>T (n.255+410G>T)
c.698G>T (p.Arg233Leu)
c.665G>T (p.Arg222Leu)
 gnomAD v4
11g.2884792C=CA1948368350CDKN1Cn.143-658G=
c.255+410G= (n.255+410G=)
c.698G= (p.Arg233=)
c.665G= (p.Arg222=)
11g.2884792C>GCA5822190CDKN1Cn.143-658G>C
c.255+410G>C (n.255+410G>C)
c.698G>C (p.Arg233Pro)
c.665G>C (p.Arg222Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2884792C>TCA5822189CDKN1Cn.143-658G>A
c.255+410G>A (n.255+410G>A)
c.698G>A (p.Arg233His)
c.665G>A (p.Arg222His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884793G>ACA5822191CDKN1Cn.143-659C>T
c.255+409C>T (n.255+409C>T)
c.697C>T (p.Arg233Cys)
c.664C>T (p.Arg222Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2884793G>CCA216367203CDKN1Cn.143-659C>G
c.255+409C>G (n.255+409C>G)
c.697C>G (p.Arg233Gly)
c.664C>G (p.Arg222Gly)
 dbSNP gnomAD v4
11g.2884793G=CA1948368351CDKN1Cn.143-659C=
c.255+409C= (n.255+409C=)
c.697C= (p.Arg233=)
c.664C= (p.Arg222=)
11g.2884793G>TCA379145830CDKN1Cn.143-659C>A
c.255+409C>A (n.255+409C>A)
c.697C>A (p.Arg233Ser)
c.664C>A (p.Arg222Ser)
 gnomAD v4
11g.2884794C>ACA379145834CDKN1Cn.143-660G>T
c.255+408G>T (n.255+408G>T)
c.696G>T (p.Gln232His)
c.663G>T (p.Gln221His)
 dbSNP gnomAD v4
11g.2884794C=CA1948368352CDKN1Cn.143-660G=
c.255+408G= (n.255+408G=)
c.696G= (p.Gln232=)
c.663G= (p.Gln221=)
11g.2884794C>GCA379145836CDKN1Cn.143-660G>C
c.255+408G>C (n.255+408G>C)
c.696G>C (p.Gln232His)
c.663G>C (p.Gln221His)
 ClinVar dbSNP gnomAD v4
11g.2884794C>TCA472483440CDKN1Cn.143-660G>A
c.255+408G>A (n.255+408G>A)
c.696G>A (p.Gln232=)
c.663G>A (p.Gln221=)
 gnomAD v4
11g.2884795delCA2739276081CDKN1Cn.143-661del
c.255+407del (n.255+407del)
c.695del (p.Gln232ArgfsTer?)
c.662del (p.Gln221ArgfsTer?)
 ClinVar
11g.2884795T>ACA379145838CDKN1Cn.143-661A>T
c.255+407A>T (n.255+407A>T)
c.695A>T (p.Gln232Leu)
c.662A>T (p.Gln221Leu)
11g.2884795T>CCA379145839CDKN1Cn.143-661A>G
c.255+407A>G (n.255+407A>G)
c.695A>G (p.Gln232Arg)
c.662A>G (p.Gln221Arg)
 ClinVar dbSNP gnomAD v4
11g.2884795T>GCA379145840CDKN1Cn.143-661A>C
c.255+407A>C (n.255+407A>C)
c.695A>C (p.Gln232Pro)
c.662A>C (p.Gln221Pro)
 ClinVar dbSNP
11g.2884795T=CA1948368353CDKN1Cn.143-661A=
c.255+407A= (n.255+407A=)
c.695A= (p.Gln232=)
c.662A= (p.Gln221=)
11g.2884796delCA2580082631CDKN1Cn.143-662del
c.255+406del (n.255+406del)
c.694del (p.Gln232SerfsTer?)
c.661del (p.Gln221SerfsTer?)
 ClinVar
11g.2884796G>ACA277051CDKN1Cn.143-662C>T
c.255+406C>T (n.255+406C>T)
c.694C>T (p.Gln232Ter)
c.661C>T (p.Gln221Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.2884796G>CCA379145841CDKN1Cn.143-662C>G
c.255+406C>G (n.255+406C>G)
c.694C>G (p.Gln232Glu)
c.661C>G (p.Gln221Glu)
 gnomAD v4
11g.2884796G=CA1948368354CDKN1Cn.143-662C=
c.255+406C= (n.255+406C=)
c.694C= (p.Gln232=)
c.661C= (p.Gln221=)
11g.2884796G>TCA379145842CDKN1Cn.143-662C>A
c.255+406C>A (n.255+406C>A)
c.694C>A (p.Gln232Lys)
c.661C>A (p.Gln221Lys)
 gnomAD v4
11g.2884797C>ACA472483441CDKN1Cn.143-663G>T
c.255+405G>T (n.255+405G>T)
c.693G>T (p.Gly231=)
c.660G>T (p.Gly220=)
 ClinVar dbSNP gnomAD v4
11g.2884797C=CA1948368355CDKN1Cn.143-663G=
c.255+405G= (n.255+405G=)
c.693G= (p.Gly231=)
c.660G= (p.Gly220=)
11g.2884797C>GCA472483442CDKN1Cn.143-663G>C
c.255+405G>C (n.255+405G>C)
c.693G>C (p.Gly231=)
c.660G>C (p.Gly220=)
 ClinVar dbSNP
11g.2884797C>TCA472483443CDKN1Cn.143-663G>A
c.255+405G>A (n.255+405G>A)
c.693G>A (p.Gly231=)
c.660G>A (p.Gly220=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884800dupCA2612014407CDKN1Cn.143-663dup
c.255+405dup (n.255+405dup)
c.693dup (p.Gln232AlafsTer9)
c.660dup (p.Gln221AlafsTer9)
 gnomAD v4
11g.2884800delCA2612014408CDKN1Cn.143-663del
c.255+405del (n.255+405del)
c.693del (p.Gln232SerfsTer?)
c.660del (p.Gln221SerfsTer?)
 gnomAD v4
11g.2884798C>ACA379145847CDKN1Cn.143-664G>T
c.255+404G>T (n.255+404G>T)
c.692G>T (p.Gly231Val)
c.659G>T (p.Gly220Val)
 gnomAD v4
11g.2884798C=CA1948368356CDKN1Cn.143-664G=
c.255+404G= (n.255+404G=)
c.692G= (p.Gly231=)
c.659G= (p.Gly220=)
11g.2884798C>GCA379145845CDKN1Cn.143-664G>C
c.255+404G>C (n.255+404G>C)
c.692G>C (p.Gly231Ala)
c.659G>C (p.Gly220Ala)
11g.2884798C>TCA379145844CDKN1Cn.143-664G>A
c.255+404G>A (n.255+404G>A)
c.692G>A (p.Gly231Glu)
c.659G>A (p.Gly220Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884799C>ACA379145848CDKN1Cn.143-665G>T
c.255+403G>T (n.255+403G>T)
c.691G>T (p.Gly231Trp)
c.658G>T (p.Gly220Trp)
 gnomAD v4
11g.2884799C=CA1948368357CDKN1Cn.143-665G=
c.255+403G= (n.255+403G=)
c.691G= (p.Gly231=)
c.658G= (p.Gly220=)
11g.2884799C>GCA379145851CDKN1Cn.143-665G>C
c.255+403G>C (n.255+403G>C)
c.691G>C (p.Gly231Arg)
c.658G>C (p.Gly220Arg)
 ClinVar gnomAD v4
11g.2884799C>TCA379145853CDKN1Cn.143-665G>A
c.255+403G>A (n.255+403G>A)
c.691G>A (p.Gly231Arg)
c.658G>A (p.Gly220Arg)
 ClinVar dbSNP gnomAD v4 COSMIC
11g.2884800C>ACA379145856CDKN1Cn.143-666G>T
c.255+402G>T (n.255+402G>T)
c.690G>T (p.Gln230His)
c.657G>T (p.Gln219His)
 gnomAD v4
11g.2884800C>GCA379145858CDKN1Cn.143-666G>C
c.255+402G>C (n.255+402G>C)
c.690G>C (p.Gln230His)
c.657G>C (p.Gln219His)
11g.2884800C>TCA472483444CDKN1Cn.143-666G>A
c.255+402G>A (n.255+402G>A)
c.690G>A (p.Gln230=)
c.657G>A (p.Gln219=)
 gnomAD v4
11g.2884800_2884801delinsCTCA1948368358CDKN1Cn.143-667_143-666delinsAG
c.255+401_255+402delinsAG (n.255+401_255+402delinsAG)
c.689_690delinsAG (p.Gln230=)
c.656_657delinsAG (p.Gln219=)
11g.2884801delCA658797572CDKN1Cn.143-667del
c.255+401del (n.255+401del)
c.689del (p.Gln230ArgfsTer?)
c.656del (p.Gln219ArgfsTer?)
 ClinVar dbSNP
11g.2884801T>ACA379145861CDKN1Cn.143-667A>T
c.255+401A>T (n.255+401A>T)
c.689A>T (p.Gln230Leu)
c.656A>T (p.Gln219Leu)
11g.2884801T>CCA379145862CDKN1Cn.143-667A>G
c.255+401A>G (n.255+401A>G)
c.689A>G (p.Gln230Arg)
c.656A>G (p.Gln219Arg)
 gnomAD v4
11g.2884801T>GCA379145865CDKN1Cn.143-667A>C
c.255+401A>C (n.255+401A>C)
c.689A>C (p.Gln230Pro)
c.656A>C (p.Gln219Pro)
 gnomAD v4
11g.2884802G>ACA216367211CDKN1Cn.143-668C>T
c.255+400C>T (n.255+400C>T)
c.688C>T (p.Gln230Ter)
c.655C>T (p.Gln219Ter)
 ClinVar dbSNP gnomAD v4
11g.2884802G>CCA379145869CDKN1Cn.143-668C>G
c.255+400C>G (n.255+400C>G)
c.688C>G (p.Gln230Glu)
c.655C>G (p.Gln219Glu)
 ClinVar gnomAD v4
11g.2884802G=CA1948368359CDKN1Cn.143-668C=
c.255+400C= (n.255+400C=)
c.688C= (p.Gln230=)
c.655C= (p.Gln219=)
11g.2884802G>TCA379145870CDKN1Cn.143-668C>A
c.255+400C>A (n.255+400C>A)
c.688C>A (p.Gln230Lys)
c.655C>A (p.Gln219Lys)
 gnomAD v4
11g.2884803G>ACA472483445CDKN1Cn.143-669C>T
c.255+399C>T (n.255+399C>T)
c.687C>T (p.Asn229=)
c.654C>T (p.Asn218=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884803G>CCA379145873CDKN1Cn.143-669C>G
c.255+399C>G (n.255+399C>G)
c.687C>G (p.Asn229Lys)
c.654C>G (p.Asn218Lys)
 ClinVar dbSNP gnomAD v4
11g.2884803G=CA1948368360CDKN1Cn.143-669C=
c.255+399C= (n.255+399C=)
c.687C= (p.Asn229=)
c.654C= (p.Asn218=)
11g.2884803G>TCA379145876CDKN1Cn.143-669C>A
c.255+399C>A (n.255+399C>A)
c.687C>A (p.Asn229Lys)
c.654C>A (p.Asn218Lys)
 gnomAD v4
11g.2884804T>ACA379145885CDKN1Cn.143-670A>T
c.255+398A>T (n.255+398A>T)
c.686A>T (p.Asn229Ile)
c.653A>T (p.Asn218Ile)
11g.2884804T>CCA379145890CDKN1Cn.143-670A>G
c.255+398A>G (n.255+398A>G)
c.686A>G (p.Asn229Ser)
c.653A>G (p.Asn218Ser)
 gnomAD v4
11g.2884804T>GCA379145877CDKN1Cn.143-670A>C
c.255+398A>C (n.255+398A>C)
c.686A>C (p.Asn229Thr)
c.653A>C (p.Asn218Thr)
 ClinVar dbSNP gnomAD v4
11g.2884804T=CA1948368361CDKN1Cn.143-670A=
c.255+398A= (n.255+398A=)
c.686A= (p.Asn229=)
c.653A= (p.Asn218=)
11g.2884804_2884820delinsTTCGCGCCCTGCTCGGCCA1948368362CDKN1Cn.143-686_143-670delinsGCCGAGCAGGGCGCGAA
c.255+382_255+398delinsGCCGAGCAGGGCGCGAA (n.255+382_255+398delinsGCCGAGCAGGGCGCGAA)
c.670_686delinsGCCGAGCAGGGCGCGAA (p.Ala224=)
c.637_653delinsGCCGAGCAGGGCGCGAA (p.Ala213=)
11g.2884805T>ACA379145896CDKN1Cn.143-671A>T
c.255+397A>T (n.255+397A>T)
c.685A>T (p.Asn229Tyr)
c.652A>T (p.Asn218Tyr)
11g.2884805T>CCA379145891CDKN1Cn.143-671A>G
c.255+397A>G (n.255+397A>G)
c.685A>G (p.Asn229Asp)
c.652A>G (p.Asn218Asp)
 gnomAD v4
11g.2884805T>GCA379145893CDKN1Cn.143-671A>C
c.255+397A>C (n.255+397A>C)
c.685A>C (p.Asn229His)
c.652A>C (p.Asn218His)
11g.2884805_2884820delinsGGGCA1139661756CDKN1Cn.143-686_143-671delinsCCC
c.255+382_255+397delinsCCC (n.255+382_255+397delinsCCC)
c.670_685delinsCCC (p.Ala224ProfsTer?)
c.637_652delinsCCC (p.Ala213ProfsTer?)
 ClinVar dbSNP
11g.2884806C>ACA472483446CDKN1Cn.143-672G>T
c.255+396G>T (n.255+396G>T)
c.684G>T (p.Ala228=)
c.651G>T (p.Ala217=)
 ClinVar dbSNP gnomAD v4
11g.2884806C=CA1948368363CDKN1Cn.143-672G=
c.255+396G= (n.255+396G=)
c.684G= (p.Ala228=)
c.651G= (p.Ala217=)
11g.2884806C>GCA472483447CDKN1Cn.143-672G>C
c.255+396G>C (n.255+396G>C)
c.684G>C (p.Ala228=)
c.651G>C (p.Ala217=)
 gnomAD v4
11g.2884806C>TCA5822192CDKN1Cn.143-672G>A
c.255+396G>A (n.255+396G>A)
c.684G>A (p.Ala228=)
c.651G>A (p.Ala217=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2884807G>ACA379145904CDKN1Cn.143-673C>T
c.255+395C>T (n.255+395C>T)
c.683C>T (p.Ala228Val)
c.650C>T (p.Ala217Val)
 ClinVar gnomAD v4
11g.2884807G>CCA379145907CDKN1Cn.143-673C>G
c.255+395C>G (n.255+395C>G)
c.683C>G (p.Ala228Gly)
c.650C>G (p.Ala217Gly)
 gnomAD v4
11g.2884807G>TCA379145909CDKN1Cn.143-673C>A
c.255+395C>A (n.255+395C>A)
c.683C>A (p.Ala228Glu)
c.650C>A (p.Ala217Glu)
 gnomAD v4
11g.2884808C>ACA379145911CDKN1Cn.143-674G>T
c.255+394G>T (n.255+394G>T)
c.682G>T (p.Ala228Ser)
c.649G>T (p.Ala217Ser)
 gnomAD v4
11g.2884808C>GCA379145913CDKN1Cn.143-674G>C
c.255+394G>C (n.255+394G>C)
c.682G>C (p.Ala228Pro)
c.649G>C (p.Ala217Pro)
 gnomAD v4
11g.2884808C>TCA379145914CDKN1Cn.143-674G>A
c.255+394G>A (n.255+394G>A)
c.682G>A (p.Ala228Thr)
c.649G>A (p.Ala217Thr)
 gnomAD v4
11g.2884809G>ACA472483448CDKN1Cn.143-675C>T
c.255+393C>T (n.255+393C>T)
c.681C>T (p.Gly227=)
c.648C>T (p.Gly216=)
 ClinVar dbSNP gnomAD v4
11g.2884809G>CCA472483449CDKN1Cn.143-675C>G
c.255+393C>G (n.255+393C>G)
c.681C>G (p.Gly227=)
c.648C>G (p.Gly216=)
11g.2884809G>TCA472483450CDKN1Cn.143-675C>A
c.255+393C>A (n.255+393C>A)
c.681C>A (p.Gly227=)
c.648C>A (p.Gly216=)
 gnomAD v4
11g.2884810C>ACA379145917CDKN1Cn.143-676G>T
c.255+392G>T (n.255+392G>T)
c.680G>T (p.Gly227Val)
c.647G>T (p.Gly216Val)
 dbSNP gnomAD v2 gnomAD v4
11g.2884810C=CA1948368364CDKN1Cn.143-676G=
c.255+392G= (n.255+392G=)
c.680G= (p.Gly227=)
c.647G= (p.Gly216=)
11g.2884810C>GCA379145918CDKN1Cn.143-676G>C
c.255+392G>C (n.255+392G>C)
c.680G>C (p.Gly227Ala)
c.647G>C (p.Gly216Ala)
11g.2884810C>TCA379145921CDKN1Cn.143-676G>A
c.255+392G>A (n.255+392G>A)
c.680G>A (p.Gly227Asp)
c.647G>A (p.Gly216Asp)
 ClinVar gnomAD v4
11g.2884811C>ACA5822193CDKN1Cn.143-677G>T
c.255+391G>T (n.255+391G>T)
c.679G>T (p.Gly227Cys)
c.646G>T (p.Gly216Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2884811C=CA1948368365CDKN1Cn.143-677G=
c.255+391G= (n.255+391G=)
c.679G= (p.Gly227=)
c.646G= (p.Gly216=)
11g.2884811C>GCA379145928CDKN1Cn.143-677G>C
c.255+391G>C (n.255+391G>C)
c.679G>C (p.Gly227Arg)
c.646G>C (p.Gly216Arg)
11g.2884811C>TCA379145925CDKN1Cn.143-677G>A
c.255+391G>A (n.255+391G>A)
c.679G>A (p.Gly227Ser)
c.646G>A (p.Gly216Ser)
11g.2884812C>ACA379145931CDKN1Cn.143-678G>T
c.255+390G>T (n.255+390G>T)
c.678G>T (p.Gln226His)
c.645G>T (p.Gln215His)
 gnomAD v4
11g.2884812C>GCA379145933CDKN1Cn.143-678G>C
c.255+390G>C (n.255+390G>C)
c.678G>C (p.Gln226His)
c.645G>C (p.Gln215His)
11g.2884812C>TCA472483451CDKN1Cn.143-678G>A
c.255+390G>A (n.255+390G>A)
c.678G>A (p.Gln226=)
c.645G>A (p.Gln215=)
 gnomAD v4
11g.2884813T>ACA379145935CDKN1Cn.143-679A>T
c.255+389A>T (n.255+389A>T)
c.677A>T (p.Gln226Leu)
c.644A>T (p.Gln215Leu)
 gnomAD v4
11g.2884813T>CCA379145937CDKN1Cn.143-679A>G
c.255+389A>G (n.255+389A>G)
c.677A>G (p.Gln226Arg)
c.644A>G (p.Gln215Arg)
 gnomAD v4
11g.2884813T>GCA379145939CDKN1Cn.143-679A>C
c.255+389A>C (n.255+389A>C)
c.677A>C (p.Gln226Pro)
c.644A>C (p.Gln215Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884813T=CA1948368366CDKN1Cn.143-679A=
c.255+389A= (n.255+389A=)
c.677A= (p.Gln226=)
c.644A= (p.Gln215=)
11g.2884814G>ACA216367215CDKN1Cn.143-680C>T
c.255+388C>T (n.255+388C>T)
c.676C>T (p.Gln226Ter)
c.643C>T (p.Gln215Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.2884814G>CCA5822194CDKN1Cn.143-680C>G
c.255+388C>G (n.255+388C>G)
c.676C>G (p.Gln226Glu)
c.643C>G (p.Gln215Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884814G=CA1948368367CDKN1Cn.143-680C=
c.255+388C= (n.255+388C=)
c.676C= (p.Gln226=)
c.643C= (p.Gln215=)
11g.2884814G>TCA379145942CDKN1Cn.143-680C>A
c.255+388C>A (n.255+388C>A)
c.676C>A (p.Gln226Lys)
c.643C>A (p.Gln215Lys)
 gnomAD v4
11g.2884815delCA2695212973CDKN1Cn.143-681del
c.255+387del (n.255+387del)
c.675del (p.Glu225AspfsTer?)
c.642del (p.Glu214AspfsTer?)
11g.2884815C>ACA379145946CDKN1Cn.143-681G>T
c.255+387G>T (n.255+387G>T)
c.675G>T (p.Glu225Asp)
c.642G>T (p.Glu214Asp)
 gnomAD v4
11g.2884815C>GCA379145947CDKN1Cn.143-681G>C
c.255+387G>C (n.255+387G>C)
c.675G>C (p.Glu225Asp)
c.642G>C (p.Glu214Asp)
 gnomAD v4
11g.2884815C>TCA472483452CDKN1Cn.143-681G>A
c.255+387G>A (n.255+387G>A)
c.675G>A (p.Glu225=)
c.642G>A (p.Glu214=)
 ClinVar dbSNP gnomAD v4
11g.2884816T>ACA379145951CDKN1Cn.143-682A>T
c.255+386A>T (n.255+386A>T)
c.674A>T (p.Glu225Val)
c.641A>T (p.Glu214Val)
11g.2884816T>CCA379145953CDKN1Cn.143-682A>G
c.255+386A>G (n.255+386A>G)
c.674A>G (p.Glu225Gly)
c.641A>G (p.Glu214Gly)
 gnomAD v4
11g.2884816T>GCA379145956CDKN1Cn.143-682A>C
c.255+386A>C (n.255+386A>C)
c.674A>C (p.Glu225Ala)
c.641A>C (p.Glu214Ala)
 dbSNP
11g.2884816T=CA1948368368CDKN1Cn.143-682A=
c.255+386A= (n.255+386A=)
c.674A= (p.Glu225=)
c.641A= (p.Glu214=)
11g.2884817C>ACA379145963CDKN1Cn.143-683G>T
c.255+385G>T (n.255+385G>T)
c.673G>T (p.Glu225Ter)
c.640G>T (p.Glu214Ter)
 ClinVar dbSNP gnomAD v4
11g.2884817C=CA1948368369CDKN1Cn.143-683G=
c.255+385G= (n.255+385G=)
c.673G= (p.Glu225=)
c.640G= (p.Glu214=)
11g.2884817C>GCA379145961CDKN1Cn.143-683G>C
c.255+385G>C (n.255+385G>C)
c.673G>C (p.Glu225Gln)
c.640G>C (p.Glu214Gln)
11g.2884817C>TCA379145959CDKN1Cn.143-683G>A
c.255+385G>A (n.255+385G>A)
c.673G>A (p.Glu225Lys)
c.640G>A (p.Glu214Lys)
 gnomAD v4
11g.2884817_2884818delCA2612014409CDKN1Cn.143-684_143-683del
c.255+384_255+385del (n.255+384_255+385del)
c.672_673del (p.Glu225AlafsTer15)
c.639_640del (p.Glu214AlafsTer15)
 gnomAD v4
11g.2884818G>ACA472483453CDKN1Cn.143-684C>T
c.255+384C>T (n.255+384C>T)
c.672C>T (p.Ala224=)
c.639C>T (p.Ala213=)
 ClinVar dbSNP gnomAD v4
11g.2884818G>CCA472483454CDKN1Cn.143-684C>G
c.255+384C>G (n.255+384C>G)
c.672C>G (p.Ala224=)
c.639C>G (p.Ala213=)
 ClinVar gnomAD v4
11g.2884818G=CA1948368370CDKN1Cn.143-684C=
c.255+384C= (n.255+384C=)
c.672C= (p.Ala224=)
c.639C= (p.Ala213=)
11g.2884818G>TCA472483455CDKN1Cn.143-684C>A
c.255+384C>A (n.255+384C>A)
c.672C>A (p.Ala224=)
c.639C>A (p.Ala213=)
 dbSNP gnomAD v4
11g.2884819G>ACA379145966CDKN1Cn.143-685C>T
c.255+383C>T (n.255+383C>T)
c.671C>T (p.Ala224Val)
c.638C>T (p.Ala213Val)
 gnomAD v4
11g.2884819G>CCA379145969CDKN1Cn.143-685C>G
c.255+383C>G (n.255+383C>G)
c.671C>G (p.Ala224Gly)
c.638C>G (p.Ala213Gly)
11g.2884819G>TCA379145971CDKN1Cn.143-685C>A
c.255+383C>A (n.255+383C>A)
c.671C>A (p.Ala224Asp)
c.638C>A (p.Ala213Asp)
 gnomAD v4
11g.2884820C>ACA379145974CDKN1Cn.143-686G>T
c.255+382G>T (n.255+382G>T)
c.670G>T (p.Ala224Ser)
c.637G>T (p.Ala213Ser)
 gnomAD v4
11g.2884820C=CA1948368371CDKN1Cn.143-686G=
c.255+382G= (n.255+382G=)
c.670G= (p.Ala224=)
c.637G= (p.Ala213=)
11g.2884820C>GCA379145976CDKN1Cn.143-686G>C
c.255+382G>C (n.255+382G>C)
c.670G>C (p.Ala224Pro)
c.637G>C (p.Ala213Pro)
11g.2884820C>TCA5822195CDKN1Cn.143-686G>A
c.255+382G>A (n.255+382G>A)
c.670G>A (p.Ala224Thr)
c.637G>A (p.Ala213Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884821G>ACA5822196CDKN1Cn.143-687C>T
c.255+381C>T (n.255+381C>T)
c.669C>T (p.Ser223=)
c.636C>T (p.Ser212=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884821G>CCA379145980CDKN1Cn.143-687C>G
c.255+381C>G (n.255+381C>G)
c.669C>G (p.Ser223Arg)
c.636C>G (p.Ser212Arg)
 ClinVar
11g.2884821G=CA1948368372CDKN1Cn.143-687C=
c.255+381C= (n.255+381C=)
c.669C= (p.Ser223=)
c.636C= (p.Ser212=)
11g.2884821G>TCA379145983CDKN1Cn.143-687C>A
c.255+381C>A (n.255+381C>A)
c.669C>A (p.Ser223Arg)
c.636C>A (p.Ser212Arg)
 ClinVar gnomAD v4
11g.2884822C>ACA379145987CDKN1Cn.143-688G>T
c.255+380G>T (n.255+380G>T)
c.668G>T (p.Ser223Ile)
c.635G>T (p.Ser212Ile)
 dbSNP gnomAD v4
11g.2884822C=CA1948368373CDKN1Cn.143-688G=
c.255+380G= (n.255+380G=)
c.668G= (p.Ser223=)
c.635G= (p.Ser212=)
11g.2884822C>GCA379145989CDKN1Cn.143-688G>C
c.255+380G>C (n.255+380G>C)
c.668G>C (p.Ser223Thr)
c.635G>C (p.Ser212Thr)
11g.2884822C>TCA379145992CDKN1Cn.143-688G>A
c.255+380G>A (n.255+380G>A)
c.668G>A (p.Ser223Asn)
c.635G>A (p.Ser212Asn)
 gnomAD v4
11g.2884826_2884827delCA2612014410CDKN1Cn.143-689_143-688del
c.255+379_255+380del (n.255+379_255+380del)
c.667_668del (p.Ser223ArgfsTer17)
c.634_635del (p.Ser212ArgfsTer17)
 gnomAD v4
11g.2884823T>ACA379145996CDKN1Cn.143-689A>T
c.255+379A>T (n.255+379A>T)
c.667A>T (p.Ser223Cys)
c.634A>T (p.Ser212Cys)
11g.2884823T>CCA379145999CDKN1Cn.143-689A>G
c.255+379A>G (n.255+379A>G)
c.667A>G (p.Ser223Gly)
c.634A>G (p.Ser212Gly)
 gnomAD v4
11g.2884823T>GCA379145994CDKN1Cn.143-689A>C
c.255+379A>C (n.255+379A>C)
c.667A>C (p.Ser223Arg)
c.634A>C (p.Ser212Arg)
11g.2884824C>ACA379146001CDKN1Cn.143-690G>T
c.255+378G>T (n.255+378G>T)
c.666G>T (p.Glu222Asp)
c.633G>T (p.Glu211Asp)
 gnomAD v4
11g.2884824C>GCA379146002CDKN1Cn.143-690G>C
c.255+378G>C (n.255+378G>C)
c.666G>C (p.Glu222Asp)
c.633G>C (p.Glu211Asp)
11g.2884824C>TCA472483456CDKN1Cn.143-690G>A
c.255+378G>A (n.255+378G>A)
c.666G>A (p.Glu222=)
c.633G>A (p.Glu211=)
11g.2884825T>ACA379146005CDKN1Cn.143-691A>T
c.255+377A>T (n.255+377A>T)
c.665A>T (p.Glu222Val)
c.632A>T (p.Glu211Val)
11g.2884825T>CCA379146007CDKN1Cn.143-691A>G
c.255+377A>G (n.255+377A>G)
c.665A>G (p.Glu222Gly)
c.632A>G (p.Glu211Gly)
 gnomAD v4
11g.2884825T>GCA379146008CDKN1Cn.143-691A>C
c.255+377A>C (n.255+377A>C)
c.665A>C (p.Glu222Ala)
c.632A>C (p.Glu211Ala)
 gnomAD v4
11g.2884826C>ACA379146014CDKN1Cn.143-692G>T
c.255+376G>T (n.255+376G>T)
c.664G>T (p.Glu222Ter)
c.631G>T (p.Glu211Ter)
 gnomAD v4
11g.2884826C=CA1948368374CDKN1Cn.143-692G=
c.255+376G= (n.255+376G=)
c.664G= (p.Glu222=)
c.631G= (p.Glu211=)
11g.2884826C>GCA5822197CDKN1Cn.143-692G>C
c.255+376G>C (n.255+376G>C)
c.664G>C (p.Glu222Gln)
c.631G>C (p.Glu211Gln)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.2884826C>TCA379146012CDKN1Cn.143-692G>A
c.255+376G>A (n.255+376G>A)
c.664G>A (p.Glu222Lys)
c.631G>A (p.Glu211Lys)
 ClinVar dbSNP
11g.2884827T>ACA379146018CDKN1Cn.143-693A>T
c.255+375A>T (n.255+375A>T)
c.663A>T (p.Gln221His)
c.630A>T (p.Gln210His)
11g.2884827T>CCA472483457CDKN1Cn.143-693A>G
c.255+375A>G (n.255+375A>G)
c.663A>G (p.Gln221=)
c.630A>G (p.Gln210=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884827T>GCA379146020CDKN1Cn.143-693A>C
c.255+375A>C (n.255+375A>C)
c.663A>C (p.Gln221His)
c.630A>C (p.Gln210His)
11g.2884827T=CA1948368375CDKN1Cn.143-693A=
c.255+375A= (n.255+375A=)
c.663A= (p.Gln221=)
c.630A= (p.Gln210=)
11g.2884828delCA2580082635CDKN1Cn.143-693del
c.255+375del (n.255+375del)
c.663del (p.Glu222ArgfsTer?)
c.630del (p.Glu211ArgfsTer?)
 ClinVar
11g.2884828T>ACA379146022CDKN1Cn.143-694A>T
c.255+374A>T (n.255+374A>T)
c.662A>T (p.Gln221Leu)
c.629A>T (p.Gln210Leu)
11g.2884828T>CCA379146025CDKN1Cn.143-694A>G
c.255+374A>G (n.255+374A>G)
c.662A>G (p.Gln221Arg)
c.629A>G (p.Gln210Arg)
 gnomAD v4
11g.2884828T>GCA379146028CDKN1Cn.143-694A>C
c.255+374A>C (n.255+374A>C)
c.662A>C (p.Gln221Pro)
c.629A>C (p.Gln210Pro)
 ClinVar dbSNP gnomAD v4
11g.2884828T=CA1948368376CDKN1Cn.143-694A=
c.255+374A= (n.255+374A=)
c.662A= (p.Gln221=)
c.629A= (p.Gln210=)
11g.2884829G>ACA379146033CDKN1Cn.143-695C>T
c.255+373C>T (n.255+373C>T)
c.661C>T (p.Gln221Ter)
c.628C>T (p.Gln210Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884829G>CCA379146031CDKN1Cn.143-695C>G
c.255+373C>G (n.255+373C>G)
c.661C>G (p.Gln221Glu)
c.628C>G (p.Gln210Glu)
11g.2884829G=CA1948368377CDKN1Cn.143-695C=
c.255+373C= (n.255+373C=)
c.661C= (p.Gln221=)
c.628C= (p.Gln210=)
11g.2884829G>TCA379146030CDKN1Cn.143-695C>A
c.255+373C>A (n.255+373C>A)
c.661C>A (p.Gln221Lys)
c.628C>A (p.Gln210Lys)
11g.2884830A>CCA472483458CDKN1Cn.143-696T>G
c.255+372T>G (n.255+372T>G)
c.660T>G (p.Pro220=)
c.627T>G (p.Pro209=)
 gnomAD v4
11g.2884830A>GCA472483459CDKN1Cn.143-696T>C
c.255+372T>C (n.255+372T>C)
c.660T>C (p.Pro220=)
c.627T>C (p.Pro209=)
 gnomAD v4
11g.2884830A>TCA472483460CDKN1Cn.143-696T>A
c.255+372T>A (n.255+372T>A)
c.660T>A (p.Pro220=)
c.627T>A (p.Pro209=)
 gnomAD v4
11g.2884831G>ACA5822198CDKN1Cn.143-697C>T
c.255+371C>T (n.255+371C>T)
c.659C>T (p.Pro220Leu)
c.626C>T (p.Pro209Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2884831G>CCA379146037CDKN1Cn.143-697C>G
c.255+371C>G (n.255+371C>G)
c.659C>G (p.Pro220Arg)
c.626C>G (p.Pro209Arg)
11g.2884831G=CA1948368378CDKN1Cn.143-697C=
c.255+371C= (n.255+371C=)
c.659C= (p.Pro220=)
c.626C= (p.Pro209=)
11g.2884831G>TCA379146040CDKN1Cn.143-697C>A
c.255+371C>A (n.255+371C>A)
c.659C>A (p.Pro220His)
c.626C>A (p.Pro209His)
 gnomAD v4
11g.2884832G>ACA379146042CDKN1Cn.143-698C>T
c.255+370C>T (n.255+370C>T)
c.658C>T (p.Pro220Ser)
c.625C>T (p.Pro209Ser)
 gnomAD v4
11g.2884832G>CCA379146044CDKN1Cn.143-698C>G
c.255+370C>G (n.255+370C>G)
c.658C>G (p.Pro220Ala)
c.625C>G (p.Pro209Ala)
11g.2884832G=CA1948368379CDKN1Cn.143-698C=
c.255+370C= (n.255+370C=)
c.658C= (p.Pro220=)
c.625C= (p.Pro209=)
11g.2884832G>TCA379146046CDKN1Cn.143-698C>A
c.255+370C>A (n.255+370C>A)
c.658C>A (p.Pro220Thr)
c.625C>A (p.Pro209Thr)
 ClinVar dbSNP gnomAD v4
11g.2884833C>ACA5822199CDKN1Cn.143-699G>T
c.255+369G>T (n.255+369G>T)
c.657G>T (p.Ala219=)
c.624G>T (p.Ala208=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2884833C=CA1948368380CDKN1Cn.143-699G=
c.255+369G= (n.255+369G=)
c.657G= (p.Ala219=)
c.624G= (p.Ala208=)
11g.2884833C>GCA472483461CDKN1Cn.143-699G>C
c.255+369G>C (n.255+369G>C)
c.657G>C (p.Ala219=)
c.624G>C (p.Ala208=)
11g.2884833C>TCA472483462CDKN1Cn.143-699G>A
c.255+369G>A (n.255+369G>A)
c.657G>A (p.Ala219=)
c.624G>A (p.Ala208=)
 ClinVar gnomAD v4
11g.2884833_2884899delinsCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGCA1948368381CDKN1Cn.142+735_143-699delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG
c.255+303_255+369delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG (n.255+303_255+369delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG)
c.591_657delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG (p.Ala197=)
c.558_624delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG (p.Ala186=)
11g.2884834G>ACA379146054CDKN1Cn.143-700C>T
c.255+368C>T (n.255+368C>T)
c.656C>T (p.Ala219Val)
c.623C>T (p.Ala208Val)
 gnomAD v4
11g.2884834G>CCA379146050CDKN1Cn.143-700C>G
c.255+368C>G (n.255+368C>G)
c.656C>G (p.Ala219Gly)
c.623C>G (p.Ala208Gly)
 gnomAD v4
11g.2884834G>TCA379146053CDKN1Cn.143-700C>A
c.255+368C>A (n.255+368C>A)
c.656C>A (p.Ala219Glu)
c.623C>A (p.Ala208Glu)
 ClinVar gnomAD v4
11g.2884840_2884905delCA934495474CDKN1Cn.142+735_143-700del
c.255+303_255+368del (n.255+303_255+368del)
c.591_656del (p.Pro198_Ala219del)
c.558_623del (p.Pro187_Ala208del)
 dbSNP gnomAD v3 gnomAD v4
11g.2884835C>ACA379146058CDKN1Cn.143-701G>T
c.255+367G>T (n.255+367G>T)
c.655G>T (p.Ala219Ser)
c.622G>T (p.Ala208Ser)
 gnomAD v4
11g.2884835C>GCA379146060CDKN1Cn.143-701G>C
c.255+367G>C (n.255+367G>C)
c.655G>C (p.Ala219Pro)
c.622G>C (p.Ala208Pro)
 ClinVar
11g.2884835C>TCA379146063CDKN1Cn.143-701G>A
c.255+367G>A (n.255+367G>A)
c.655G>A (p.Ala219Thr)
c.622G>A (p.Ala208Thr)
 ClinVar dbSNP gnomAD v4
11g.2884838_2884843delCA2612014413CDKN1Cn.143-706_143-701del
c.255+362_255+367del (n.255+362_255+367del)
c.650_655del (p.Asp217_Ala218del)
c.617_622del (p.Asp206_Ala207del)
 gnomAD v4
11g.2884836C>ACA472483463CDKN1Cn.143-702G>T
c.255+366G>T (n.255+366G>T)
c.654G>T (p.Ala218=)
c.621G>T (p.Ala207=)
 gnomAD v4
11g.2884836C=CA1948368382CDKN1Cn.143-702G=
c.255+366G= (n.255+366G=)
c.654G= (p.Ala218=)
c.621G= (p.Ala207=)
11g.2884836C>GCA472483464CDKN1Cn.143-702G>C
c.255+366G>C (n.255+366G>C)
c.654G>C (p.Ala218=)
c.621G>C (p.Ala207=)
 ClinVar dbSNP gnomAD v4
11g.2884836C>TCA472483465CDKN1Cn.143-702G>A
c.255+366G>A (n.255+366G>A)
c.654G>A (p.Ala218=)
c.621G>A (p.Ala207=)
 gnomAD v4
11g.2884837delCA2612014415CDKN1Cn.143-703del
c.255+365del (n.255+365del)
c.653del (p.Ala218GlyfsTer?)
c.620del (p.Ala207GlyfsTer?)
 gnomAD v4
11g.2884837G>ACA379146066CDKN1Cn.143-703C>T
c.255+365C>T (n.255+365C>T)
c.653C>T (p.Ala218Val)
c.620C>T (p.Ala207Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884837G>CCA379146068CDKN1Cn.143-703C>G
c.255+365C>G (n.255+365C>G)
c.653C>G (p.Ala218Gly)
c.620C>G (p.Ala207Gly)
11g.2884837G=CA1948368383CDKN1Cn.143-703C=
c.255+365C= (n.255+365C=)
c.653C= (p.Ala218=)
c.620C= (p.Ala207=)
11g.2884837G>TCA379146070CDKN1Cn.143-703C>A
c.255+365C>A (n.255+365C>A)
c.653C>A (p.Ala218Glu)
c.620C>A (p.Ala207Glu)
 gnomAD v4
11g.2884838C>ACA379146071CDKN1Cn.143-704G>T
c.255+364G>T (n.255+364G>T)
c.652G>T (p.Ala218Ser)
c.619G>T (p.Ala207Ser)
 gnomAD v4
11g.2884838C>GCA379146074CDKN1Cn.143-704G>C
c.255+364G>C (n.255+364G>C)
c.652G>C (p.Ala218Pro)
c.619G>C (p.Ala207Pro)
11g.2884838C>TCA379146073CDKN1Cn.143-704G>A
c.255+364G>A (n.255+364G>A)
c.652G>A (p.Ala218Thr)
c.619G>A (p.Ala207Thr)
 gnomAD v4
11g.2884838_2884853delinsGGGCA2695212974CDKN1Cn.143-719_143-704delinsCCC
c.255+349_255+364delinsCCC (n.255+349_255+364delinsCCC)
c.637_652delinsCCC (p.Ala213ProfsTer?)
c.604_619delinsCCC (p.Ala202ProfsTer?)
11g.2884839G>ACA472483466CDKN1Cn.143-705C>T
c.255+363C>T (n.255+363C>T)
c.651C>T (p.Asp217=)
c.618C>T (p.Asp206=)
 ClinVar dbSNP gnomAD v4
11g.2884839G>CCA5822200CDKN1Cn.143-705C>G
c.255+363C>G (n.255+363C>G)
c.651C>G (p.Asp217Glu)
c.618C>G (p.Asp206Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884839G=CA1948368384CDKN1Cn.143-705C=
c.255+363C= (n.255+363C=)
c.651C= (p.Asp217=)
c.618C= (p.Asp206=)
11g.2884839G>TCA379146077CDKN1Cn.143-705C>A
c.255+363C>A (n.255+363C>A)
c.651C>A (p.Asp217Glu)
c.618C>A (p.Asp206Glu)
 gnomAD v4
11g.2884840_2884845delCA2612014416CDKN1Cn.143-710_143-705del
c.255+358_255+363del (n.255+358_255+363del)
c.646_651del (p.Pro216_Asp217del)
c.613_618del (p.Pro205_Asp206del)
 gnomAD v4
11g.2884840_2884851delCA2612014419CDKN1Cn.143-716_143-705del
c.255+352_255+363del (n.255+352_255+363del)
c.640_651del (p.Pro214_Asp217del)
c.607_618del (p.Pro203_Asp206del)
 gnomAD v4
11g.2884840_2884857delCA2612014418CDKN1Cn.143-722_143-705del
c.255+346_255+363del (n.255+346_255+363del)
c.634_651del (p.Pro212_Asp217del)
c.601_618del (p.Pro201_Asp206del)
 gnomAD v4
11g.2884840_2884863delCA2612014417CDKN1Cn.143-728_143-705del
c.255+340_255+363del (n.255+340_255+363del)
c.628_651del (p.Pro210_Asp217del)
c.595_618del (p.Pro199_Asp206del)
 gnomAD v4
11g.2884840T>ACA216367226CDKN1Cn.143-706A>T
c.255+362A>T (n.255+362A>T)
c.650A>T (p.Asp217Val)
c.617A>T (p.Asp206Val)
 dbSNP
11g.2884840T>CCA379146080CDKN1Cn.143-706A>G
c.255+362A>G (n.255+362A>G)
c.650A>G (p.Asp217Gly)
c.617A>G (p.Asp206Gly)
 ClinVar gnomAD v4
11g.2884840T>GCA379146082CDKN1Cn.143-706A>C
c.255+362A>C (n.255+362A>C)
c.650A>C (p.Asp217Ala)
c.617A>C (p.Asp206Ala)
 gnomAD v4
11g.2884840T=CA1948368385CDKN1Cn.143-706A=
c.255+362A= (n.255+362A=)
c.650A= (p.Asp217=)
c.617A= (p.Asp206=)
11g.2884840_2884852delinsTCCGGGGCCGGGGCA1948368386CDKN1Cn.143-718_143-706delinsCCCCGGCCCCGGA
c.255+350_255+362delinsCCCCGGCCCCGGA (n.255+350_255+362delinsCCCCGGCCCCGGA)
c.638_650delinsCCCCGGCCCCGGA (p.Ala213=)
c.605_617delinsCCCCGGCCCCGGA (p.Ala202=)
11g.2884840_2884864delinsTCCGGGGCCGGGGCCGGGGCGGGGGCA1948368387CDKN1Cn.143-730_143-706delinsCCCCCGCCCCGGCCCCGGCCCCGGA
c.255+338_255+362delinsCCCCCGCCCCGGCCCCGGCCCCGGA (n.255+338_255+362delinsCCCCCGCCCCGGCCCCGGCCCCGGA)
c.626_650delinsCCCCCGCCCCGGCCCCGGCCCCGGA (p.Ala209=)
c.593_617delinsCCCCCGCCCCGGCCCCGGCCCCGGA (p.Ala198=)
11g.2884840_2884876delinsTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCA1948368388CDKN1Cn.143-742_143-706delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA
c.255+326_255+362delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA (n.255+326_255+362delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA)
c.614_650delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA (p.Ala205=)
c.581_617delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA (p.Ala194=)
11g.2884841C>ACA379146091CDKN1Cn.143-707G>T
c.255+361G>T (n.255+361G>T)
c.649G>T (p.Asp217Tyr)
c.616G>T (p.Asp206Tyr)
 ClinVar gnomAD v4
11g.2884841C>GCA379146094CDKN1Cn.143-707G>C
c.255+361G>C (n.255+361G>C)
c.649G>C (p.Asp217His)
c.616G>C (p.Asp206His)
11g.2884841C>TCA379146096CDKN1Cn.143-707G>A
c.255+361G>A (n.255+361G>A)
c.649G>A (p.Asp217Asn)
c.616G>A (p.Asp206Asn)
11g.2884842delCA2612014424CDKN1Cn.143-707del
c.255+361del (n.255+361del)
c.649del (p.Asp217ThrfsTer?)
c.616del (p.Asp206ThrfsTer?)
 gnomAD v4
11g.2884854_2884859dupCA274883CDKN1Cn.143-712_143-707dup
c.255+356_255+361dup (n.255+356_255+361dup)
c.644_649dup (p.Pro216_Asp217insAlaPro)
c.611_616dup (p.Pro205_Asp206insAlaPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884854_2884859delCA597432859CDKN1Cn.143-712_143-707del
c.255+356_255+361del (n.255+356_255+361del)
c.644_649del (p.Ala215_Pro216del)
c.611_616del (p.Ala204_Pro205del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884848_2884859delCA16613540CDKN1Cn.143-718_143-707del
c.255+350_255+361del (n.255+350_255+361del)
c.638_649del (p.Ala213_Pro216del)
c.605_616del (p.Ala202_Pro205del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884842_2884859delCA2499220883CDKN1Cn.143-724_143-707del
c.255+344_255+361del (n.255+344_255+361del)
c.632_649del (p.Ala211_Pro216del)
c.599_616del (p.Ala200_Pro205del)
 ClinVar dbSNP
11g.2884860_2884883dupCA658656113CDKN1Cn.143-730_143-707dup
c.255+338_255+361dup (n.255+338_255+361dup)
c.626_649dup (p.Pro216_Asp217insAlaProAlaProAlaProAlaPro)
c.593_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884883delCA5822201CDKN1Cn.143-730_143-707del
c.255+338_255+361del (n.255+338_255+361del)
c.626_649del (p.Ala209_Pro216del)
c.593_616del (p.Ala198_Pro205del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884860_2884889dupCA658797573CDKN1Cn.143-736_143-707dup
c.255+332_255+361dup (n.255+332_255+361dup)
c.620_649dup (p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaPro)
c.587_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884854_2884889dupCA2697548338CDKN1Cn.143-742_143-707dup
c.255+326_255+361dup (n.255+326_255+361dup)
c.614_649dup (p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaProAlaPro)
c.581_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaPro)
 ClinVar
11g.2884848_2884889dupCA2573145967CDKN1Cn.143-748_143-707dup
c.255+320_255+361dup (n.255+320_255+361dup)
c.608_649dup (p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
c.575_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP
11g.2884860_2884889delCA10582891CDKN1Cn.143-736_143-707del
c.255+332_255+361del (n.255+332_255+361del)
c.620_649del (p.Ala207_Pro216del)
c.587_616del (p.Ala196_Pro205del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884854_2884889delCA675284073CDKN1Cn.143-742_143-707del
c.255+326_255+361del (n.255+326_255+361del)
c.614_649del (p.Ala205_Pro216del)
c.581_616del (p.Ala194_Pro205del)
 dbSNP gnomAD v4
11g.2884848_2884889delCA2612014423CDKN1Cn.143-748_143-707del
c.255+320_255+361del (n.255+320_255+361del)
c.608_649del (p.Ala203_Pro216del)
c.575_616del (p.Ala192_Pro205del)
 gnomAD v4
11g.2884851_2884922delCA2612014422CDKN1Cn.142+722_143-707del
c.255+290_255+361del (n.255+290_255+361del)
c.578_649del (p.Ala193_Pro216del)
c.545_616del (p.Ala182_Pro205del)
 gnomAD v4
11g.2884860_2884955delCA2612014421CDKN1Cn.142+698_143-707del
c.255+266_255+361del (n.255+266_255+361del)
c.554_649del (p.Ala185_Pro216del)
c.521_616del (p.Ala174_Pro205del)
 gnomAD v4
11g.2884855_2884956delCA2612014420CDKN1Cn.142+692_143-707del
c.255+260_255+361del (n.255+260_255+361del)
c.548_649del (p.Ala183_Pro216del)
c.515_616del (p.Ala172_Pro205del)
 gnomAD v4
11g.2884842C>ACA472832160CDKN1Cn.143-708G>T
c.255+360G>T (n.255+360G>T)
c.648G>T (p.Pro216=)
c.615G>T (p.Pro205=)
 gnomAD v4
11g.2884842C=CA1948368391CDKN1Cn.143-708G=
c.255+360G= (n.255+360G=)
c.648G= (p.Pro216=)
c.615G= (p.Pro205=)
11g.2884842C>GCA472832161CDKN1Cn.143-708G>C
c.255+360G>C (n.255+360G>C)
c.648G>C (p.Pro216=)
c.615G>C (p.Pro205=)
11g.2884842C>TCA472832163CDKN1Cn.143-708G>A
c.255+360G>A (n.255+360G>A)
c.648G>A (p.Pro216=)
c.615G>A (p.Pro205=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884842_2884843delinsCGCA1948368390CDKN1Cn.143-709_143-708delinsCG
c.255+359_255+360delinsCG (n.255+359_255+360delinsCG)
c.647_648delinsCG (p.Pro216=)
c.614_615delinsCG (p.Pro205=)
11g.2884842_2884860delinsCGGGGCCGGGGCCGGGGCGCA1948368389CDKN1Cn.143-726_143-708delinsCGCCCCGGCCCCGGCCCCG
c.255+342_255+360delinsCGCCCCGGCCCCGGCCCCG (n.255+342_255+360delinsCGCCCCGGCCCCGGCCCCG)
c.630_648delinsCGCCCCGGCCCCGGCCCCG (p.Pro210=)
c.597_615delinsCGCCCCGGCCCCGGCCCCG (p.Pro199=)
11g.2884843G>ACA379146102CDKN1Cn.143-709C>T
c.255+359C>T (n.255+359C>T)
c.647C>T (p.Pro216Leu)
c.614C>T (p.Pro205Leu)
 ClinVar gnomAD v4
11g.2884843G>CCA379146106CDKN1Cn.143-709C>G
c.255+359C>G (n.255+359C>G)
c.647C>G (p.Pro216Arg)
c.614C>G (p.Pro205Arg)
 ClinVar gnomAD v4
11g.2884843G>TCA379146109CDKN1Cn.143-709C>A
c.255+359C>A (n.255+359C>A)
c.647C>A (p.Pro216Gln)
c.614C>A (p.Pro205Gln)
 ClinVar gnomAD v4
11g.2884846delCA891842859CDKN1Cn.143-709del
c.255+359del (n.255+359del)
c.647del (p.Pro216ArgfsTer?)
c.614del (p.Pro205ArgfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884847_2884848insGGGGGCCA2580615615CDKN1Cn.143-709_143-708insCGCCCC
c.255+359_255+360insCGCCCC (n.255+359_255+360insCGCCCC)
c.647_648insCGCCCC (p.Pro216_Asp217insAlaPro)
c.614_615insCGCCCC (p.Pro205_Asp206insAlaPro)
 dbSNP
11g.2884860_2884877dupCA934495500CDKN1Cn.143-726_143-709dup
c.255+342_255+359dup (n.255+342_255+359dup)
c.630_647dup (p.Pro216_Asp217insAlaProAlaProAlaPro)
c.597_614dup (p.Pro205_Asp206insAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884877delCA5822202CDKN1Cn.143-726_143-709del
c.255+342_255+359del (n.255+342_255+359del)
c.630_647del (p.Ala211_Pro216del)
c.597_614del (p.Ala200_Pro205del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884856_2884903delCA2499220884CDKN1Cn.142+744_143-709del
c.255+312_255+359del (n.255+312_255+359del)
c.600_647del (p.Ala201_Pro216del)
c.567_614del (p.Ala190_Pro205del)
 ClinVar dbSNP gnomAD v4
11g.2884844G>ACA379146111CDKN1Cn.143-710C>T
c.255+358C>T (n.255+358C>T)
c.646C>T (p.Pro216Ser)
c.613C>T (p.Pro205Ser)
 gnomAD v4
11g.2884844G>CCA379146113CDKN1Cn.143-710C>G
c.255+358C>G (n.255+358C>G)
c.646C>G (p.Pro216Ala)
c.613C>G (p.Pro205Ala)
11g.2884844G>TCA379146115CDKN1Cn.143-710C>A
c.255+358C>A (n.255+358C>A)
c.646C>A (p.Pro216Thr)
c.613C>A (p.Pro205Thr)
 gnomAD v4
11g.2884845G>ACA472832177CDKN1Cn.143-711C>T
c.255+357C>T (n.255+357C>T)
c.645C>T (p.Ala215=)
c.612C>T (p.Ala204=)
 dbSNP gnomAD v3 gnomAD v4
11g.2884845G>CCA472832179CDKN1Cn.143-711C>G
c.255+357C>G (n.255+357C>G)
c.645C>G (p.Ala215=)
c.612C>G (p.Ala204=)
11g.2884845G=CA1948368393CDKN1Cn.143-711C=
c.255+357C= (n.255+357C=)
c.645C= (p.Ala215=)
c.612C= (p.Ala204=)
11g.2884845G>TCA472832180CDKN1Cn.143-711C>A
c.255+357C>A (n.255+357C>A)
c.645C>A (p.Ala215=)
c.612C>A (p.Ala204=)
 gnomAD v4
11g.2884845_2884849delinsGGCCGCA1948368392CDKN1Cn.143-715_143-711delinsCGGCC
c.255+353_255+357delinsCGGCC (n.255+353_255+357delinsCGGCC)
c.641_645delinsCGGCC (p.Pro214=)
c.608_612delinsCGGCC (p.Pro203=)
11g.2884846G>ACA379146119CDKN1Cn.143-712C>T
c.255+356C>T (n.255+356C>T)
c.644C>T (p.Ala215Val)
c.611C>T (p.Ala204Val)
 ClinVar dbSNP gnomAD v4
11g.2884846G>CCA379146121CDKN1Cn.143-712C>G
c.255+356C>G (n.255+356C>G)
c.644C>G (p.Ala215Gly)
c.611C>G (p.Ala204Gly)
11g.2884846G=CA1948368394CDKN1Cn.143-712C=
c.255+356C= (n.255+356C=)
c.644C= (p.Ala215=)
c.611C= (p.Ala204=)
11g.2884846G>TCA16613574CDKN1Cn.143-712C>A
c.255+356C>A (n.255+356C>A)
c.644C>A (p.Ala215Asp)
c.611C>A (p.Ala204Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884846_2884849delinsCCCCA274882CDKN1Cn.143-715_143-712delinsGGG
c.255+353_255+356delinsGGG (n.255+353_255+356delinsGGG)
c.641_644delinsGGG (p.Pro214ArgfsTer?)
c.608_611delinsGGG (p.Pro203ArgfsTer?)
 ClinVar dbSNP
11g.2884857_2884922delCA2697548339CDKN1Cn.142+723_143-712del
c.255+291_255+356del (n.255+291_255+356del)
c.579_644del (p.Pro194_Ala215del)
c.546_611del (p.Pro183_Ala204del)
 ClinVar
11g.2884851_2884928delCA934495509CDKN1Cn.142+711_143-712del
c.255+279_255+356del (n.255+279_255+356del)
c.567_644del (p.Pro190_Ala215del)
c.534_611del (p.Pro179_Ala204del)
 gnomAD v3 gnomAD v4
11g.2884860_2884949delCA934495510CDKN1Cn.142+699_143-712del
c.255+267_255+356del (n.255+267_255+356del)
c.555_644del (p.Pro186_Ala215del)
c.522_611del (p.Pro175_Ala204del)
 gnomAD v3 gnomAD v4
11g.2884847C>ACA379146126CDKN1Cn.143-713G>T
c.255+355G>T (n.255+355G>T)
c.643G>T (p.Ala215Ser)
c.610G>T (p.Ala204Ser)
 gnomAD v4
11g.2884847C=CA1948368396CDKN1Cn.143-713G=
c.255+355G= (n.255+355G=)
c.643G= (p.Ala215=)
c.610G= (p.Ala204=)
11g.2884847C>GCA379146128CDKN1Cn.143-713G>C
c.255+355G>C (n.255+355G>C)
c.643G>C (p.Ala215Pro)
c.610G>C (p.Ala204Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.2884847C>TCA379146130CDKN1Cn.143-713G>A
c.255+355G>A (n.255+355G>A)
c.643G>A (p.Ala215Thr)
c.610G>A (p.Ala204Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.2884847_2884858delinsCCGGGGCCGGGGCA1948368395CDKN1Cn.143-724_143-713delinsCCCCGGCCCCGG
c.255+344_255+355delinsCCCCGGCCCCGG (n.255+344_255+355delinsCCCCGGCCCCGG)
c.632_643delinsCCCCGGCCCCGG (p.Ala211=)
c.599_610delinsCCCCGGCCCCGG (p.Ala200=)
11g.2884848C>ACA472832192CDKN1Cn.143-714G>T
c.255+354G>T (n.255+354G>T)
c.642G>T (p.Pro214=)
c.609G>T (p.Pro203=)
 ClinVar dbSNP gnomAD v4
11g.2884848C=CA1948368398CDKN1Cn.143-714G=
c.255+354G= (n.255+354G=)
c.642G= (p.Pro214=)
c.609G= (p.Pro203=)
11g.2884848C>GCA472832194CDKN1Cn.143-714G>C
c.255+354G>C (n.255+354G>C)
c.642G>C (p.Pro214=)
c.609G>C (p.Pro203=)
 ClinVar dbSNP gnomAD v4
11g.2884848C>TCA472832195CDKN1Cn.143-714G>A
c.255+354G>A (n.255+354G>A)
c.642G>A (p.Pro214=)
c.609G>A (p.Pro203=)
 dbSNP gnomAD v3 gnomAD v4
11g.2884848_2884849delinsCGCA1948368397CDKN1Cn.143-715_143-714delinsCG
c.255+353_255+354delinsCG (n.255+353_255+354delinsCG)
c.641_642delinsCG (p.Pro214=)
c.608_609delinsCG (p.Pro203=)
11g.2884848_2884860delinsCGGGGCCGGGGCGCA1948368399CDKN1Cn.143-726_143-714delinsCGCCCCGGCCCCG
c.255+342_255+354delinsCGCCCCGGCCCCG (n.255+342_255+354delinsCGCCCCGGCCCCG)
c.630_642delinsCGCCCCGGCCCCG (p.Pro210=)
c.597_609delinsCGCCCCGGCCCCG (p.Pro199=)
11g.2884853_2884863delCA916081624CDKN1Cn.143-724_143-714del
c.255+344_255+354del (n.255+344_255+354del)
c.632_642del (p.Ala211GlyfsTer26)
c.599_609del (p.Ala200GlyfsTer26)
 ClinVar dbSNP
11g.2884849G>ACA379146141CDKN1Cn.143-715C>T
c.255+353C>T (n.255+353C>T)
c.641C>T (p.Pro214Leu)
c.608C>T (p.Pro203Leu)
 ClinVar dbSNP gnomAD v4
11g.2884849G>CCA379146138CDKN1Cn.143-715C>G
c.255+353C>G (n.255+353C>G)
c.641C>G (p.Pro214Arg)
c.608C>G (p.Pro203Arg)
 gnomAD v4
11g.2884849G=CA1948368400CDKN1Cn.143-715C=
c.255+353C= (n.255+353C=)
c.641C= (p.Pro214=)
c.608C= (p.Pro203=)
11g.2884849G>TCA379146136CDKN1Cn.143-715C>A
c.255+353C>A (n.255+353C>A)
c.641C>A (p.Pro214Gln)
c.608C>A (p.Pro203Gln)
 ClinVar dbSNP gnomAD v4
11g.2884852delCA216367236CDKN1Cn.143-715del
c.255+353del (n.255+353del)
c.641del (p.Pro214ArgfsTer?)
c.608del (p.Pro203ArgfsTer?)
 dbSNP gnomAD v4
11g.2884860_2884871dupCA658797574CDKN1Cn.143-726_143-715dup
c.255+342_255+353dup (n.255+342_255+353dup)
c.630_641dup (p.Pro214_Ala215insAlaProAlaPro)
c.597_608dup (p.Pro203_Ala204insAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884871delCA597432646CDKN1Cn.143-726_143-715del
c.255+342_255+353del (n.255+342_255+353del)
c.630_641del (p.Ala211_Pro214del)
c.597_608del (p.Ala200_Pro203del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884860_2884901dupCA2697548341CDKN1Cn.142+744_143-715dup
c.255+312_255+353dup (n.255+312_255+353dup)
c.600_641dup (p.Pro214_Ala215insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
c.567_608dup (p.Pro203_Ala204insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
 ClinVar
11g.2884860_2884901delCA2499220885CDKN1Cn.142+744_143-715del
c.255+312_255+353del (n.255+312_255+353del)
c.600_641del (p.Ala201_Pro214del)
c.567_608del (p.Ala190_Pro203del)
 ClinVar dbSNP gnomAD v4
11g.2884850G>ACA379146144CDKN1Cn.143-716C>T
c.255+352C>T (n.255+352C>T)
c.640C>T (p.Pro214Ser)
c.607C>T (p.Pro203Ser)
 ClinVar dbSNP gnomAD v4
11g.2884850G>CCA379146147CDKN1Cn.143-716C>G
c.255+352C>G (n.255+352C>G)
c.640C>G (p.Pro214Ala)
c.607C>G (p.Pro203Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884850G=CA1948368401CDKN1Cn.143-716C=
c.255+352C= (n.255+352C=)
c.640C= (p.Pro214=)
c.607C= (p.Pro203=)
11g.2884850G>TCA216367238CDKN1Cn.143-716C>A
c.255+352C>A (n.255+352C>A)
c.640C>A (p.Pro214Thr)
c.607C>A (p.Pro203Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884851G>ACA5822203CDKN1Cn.143-717C>T
c.255+351C>T (n.255+351C>T)
c.639C>T (p.Ala213=)
c.606C>T (p.Ala202=)
 ClinVar dbSNP ExAC gnomAD v4
11g.2884851G>CCA472832205CDKN1Cn.143-717C>G
c.255+351C>G (n.255+351C>G)
c.639C>G (p.Ala213=)
c.606C>G (p.Ala202=)
11g.2884851G=CA1948368402CDKN1Cn.143-717C=
c.255+351C= (n.255+351C=)
c.639C= (p.Ala213=)
c.606C= (p.Ala202=)
11g.2884851G>TCA472832207CDKN1Cn.143-717C>A
c.255+351C>A (n.255+351C>A)
c.639C>A (p.Ala213=)
c.606C>A (p.Ala202=)
 gnomAD v4
11g.2884852G>ACA379146152CDKN1Cn.143-718C>T
c.255+350C>T (n.255+350C>T)
c.638C>T (p.Ala213Val)
c.605C>T (p.Ala202Val)
 ClinVar gnomAD v4
11g.2884852G>CCA379146154CDKN1Cn.143-718C>G
c.255+350C>G (n.255+350C>G)
c.638C>G (p.Ala213Gly)
c.605C>G (p.Ala202Gly)
 ClinVar
11g.2884852G>TCA379146157CDKN1Cn.143-718C>A
c.255+350C>A (n.255+350C>A)
c.638C>A (p.Ala213Asp)
c.605C>A (p.Ala202Asp)
 gnomAD v4
11g.2884860_2884943delCA2612014428CDKN1Cn.142+699_143-718del
c.255+267_255+350del (n.255+267_255+350del)
c.555_638del (p.Pro186_Ala213del)
c.522_605del (p.Pro175_Ala202del)
 gnomAD v4
11g.2884853C>ACA379146159CDKN1Cn.143-719G>T
c.255+349G>T (n.255+349G>T)
c.637G>T (p.Ala213Ser)
c.604G>T (p.Ala202Ser)
 ClinVar gnomAD v4
11g.2884853C>GCA379146161CDKN1Cn.143-719G>C
c.255+349G>C (n.255+349G>C)
c.637G>C (p.Ala213Pro)
c.604G>C (p.Ala202Pro)
11g.2884853C>TCA379146164CDKN1Cn.143-719G>A
c.255+349G>A (n.255+349G>A)
c.637G>A (p.Ala213Thr)
c.604G>A (p.Ala202Thr)
 ClinVar gnomAD v4
11g.2884854delCA2580082642CDKN1Cn.143-719del
c.255+349del (n.255+349del)
c.637del (p.Ala213ProfsTer?)
c.604del (p.Ala202ProfsTer?)
 ClinVar gnomAD v4
11g.2884854C>ACA472832215CDKN1Cn.143-720G>T
c.255+348G>T (n.255+348G>T)
c.636G>T (p.Pro212=)
c.603G>T (p.Pro201=)
 gnomAD v4
11g.2884854C=CA1948368405CDKN1Cn.143-720G=
c.255+348G= (n.255+348G=)
c.636G= (p.Pro212=)
c.603G= (p.Pro201=)
11g.2884854C>GCA472832217CDKN1Cn.143-720G>C
c.255+348G>C (n.255+348G>C)
c.636G>C (p.Pro212=)
c.603G>C (p.Pro201=)
 ClinVar dbSNP gnomAD v4
11g.2884854C>TCA472832218CDKN1Cn.143-720G>A
c.255+348G>A (n.255+348G>A)
c.636G>A (p.Pro212=)
c.603G>A (p.Pro201=)
 gnomAD v4
11g.2884854_2884855delinsCGCA1948368403CDKN1Cn.143-721_143-720delinsCG
c.255+347_255+348delinsCG (n.255+347_255+348delinsCG)
c.635_636delinsCG (p.Pro212=)
c.602_603delinsCG (p.Pro201=)
11g.2884854_2884860delinsCGGGGCGCA1948368404CDKN1Cn.143-726_143-720delinsCGCCCCG
c.255+342_255+348delinsCGCCCCG (n.255+342_255+348delinsCGCCCCG)
c.630_636delinsCGCCCCG (p.Pro210=)
c.597_603delinsCGCCCCG (p.Pro199=)
11g.2884855G>ACA379146173CDKN1Cn.143-721C>T
c.255+347C>T (n.255+347C>T)
c.635C>T (p.Pro212Leu)
c.602C>T (p.Pro201Leu)
 ClinVar dbSNP gnomAD v4
11g.2884855G>CCA379146177CDKN1Cn.143-721C>G
c.255+347C>G (n.255+347C>G)
c.635C>G (p.Pro212Arg)
c.602C>G (p.Pro201Arg)
 ClinVar dbSNP gnomAD v4
11g.2884855G=CA1948368406CDKN1Cn.143-721C=
c.255+347C= (n.255+347C=)
c.635C= (p.Pro212=)
c.602C= (p.Pro201=)
11g.2884855G>TCA379146181CDKN1Cn.143-721C>A
c.255+347C>A (n.255+347C>A)
c.635C>A (p.Pro212Gln)
c.602C>A (p.Pro201Gln)
 gnomAD v4
11g.2884858delCA274881CDKN1Cn.143-721del
c.255+347del (n.255+347del)
c.635del (p.Pro212ArgfsTer?)
c.602del (p.Pro201ArgfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884860_2884865dupCA10582892CDKN1Cn.143-726_143-721dup
c.255+342_255+347dup (n.255+342_255+347dup)
c.630_635dup (p.Pro212_Ala213insAlaPro)
c.597_602dup (p.Pro201_Ala202insAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884865delCA915947940CDKN1Cn.143-726_143-721del
c.255+342_255+347del (n.255+342_255+347del)
c.630_635del (p.Ala211_Pro212del)
c.597_602del (p.Ala200_Pro201del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884858_2884882dupCA274878CDKN1Cn.143-745_143-721dup
c.255+323_255+347dup (n.255+323_255+347dup)
c.611_635dup (p.Ala213GlyfsTer36)
c.578_602dup (p.Ala202GlyfsTer36)
 ClinVar dbSNP
11g.2884860_2884895delCA2739276082CDKN1Cn.142+744_143-721del
c.255+312_255+347del (n.255+312_255+347del)
c.600_635del (p.Ala201_Pro212del)
c.567_602del (p.Ala190_Pro201del)
 ClinVar
11g.2884856G>ACA379146185CDKN1Cn.143-722C>T
c.255+346C>T (n.255+346C>T)
c.634C>T (p.Pro212Ser)
c.601C>T (p.Pro201Ser)
 ClinVar gnomAD v4
11g.2884856G>CCA379146188CDKN1Cn.143-722C>G
c.255+346C>G (n.255+346C>G)
c.634C>G (p.Pro212Ala)
c.601C>G (p.Pro201Ala)
 gnomAD v4
11g.2884856G>TCA379146189CDKN1Cn.143-722C>A
c.255+346C>A (n.255+346C>A)
c.634C>A (p.Pro212Thr)
c.601C>A (p.Pro201Thr)
 gnomAD v4
11g.2884859_2884860insCTGGGCCA2499220886CDKN1Cn.143-722_143-721insAGGCCC
c.255+346_255+347insAGGCCC (n.255+346_255+347insAGGCCC)
c.634_635insAGGCCC (p.Ala211_Pro212insGlnAla)
c.601_602insAGGCCC (p.Ala200_Pro201insGlnAla)
 ClinVar dbSNP gnomAD v4
11g.2884859_2884875delCA2612014429CDKN1Cn.143-738_143-722del
c.255+330_255+346del (n.255+330_255+346del)
c.618_634del (p.Ala207GlyfsTer28)
c.585_601del (p.Ala196GlyfsTer28)
 gnomAD v4
11g.2884857G>ACA472832239CDKN1Cn.143-723C>T
c.255+345C>T (n.255+345C>T)
c.633C>T (p.Ala211=)
c.600C>T (p.Ala200=)
 gnomAD v4
11g.2884857G>CCA472832240CDKN1Cn.143-723C>G
c.255+345C>G (n.255+345C>G)
c.633C>G (p.Ala211=)
c.600C>G (p.Ala200=)
11g.2884857G=CA1948368407CDKN1Cn.143-723C=
c.255+345C= (n.255+345C=)
c.633C= (p.Ala211=)
c.600C= (p.Ala200=)
11g.2884857G>TCA472832242CDKN1Cn.143-723C>A
c.255+345C>A (n.255+345C>A)
c.633C>A (p.Ala211=)
c.600C>A (p.Ala200=)
 ClinVar dbSNP gnomAD v4
11g.2884857_2884858insCGGTGCCA916084226CDKN1Cn.143-724_143-723insGCACCG
c.255+344_255+345insGCACCG (n.255+344_255+345insGCACCG)
c.632_633insGCACCG (p.Ala211_Pro212insHisArg)
c.599_600insGCACCG (p.Ala200_Pro201insHisArg)
11g.2884858G>ACA379146196CDKN1Cn.143-724C>T
c.255+344C>T (n.255+344C>T)
c.632C>T (p.Ala211Val)
c.599C>T (p.Ala200Val)
 gnomAD v3 gnomAD v4
11g.2884858G>CCA379146194CDKN1Cn.143-724C>G
c.255+344C>G (n.255+344C>G)
c.632C>G (p.Ala211Gly)
c.599C>G (p.Ala200Gly)
 gnomAD v4
11g.2884858G=CA1948368408CDKN1Cn.143-724C=
c.255+344C= (n.255+344C=)
c.632C= (p.Ala211=)
c.599C= (p.Ala200=)
11g.2884858G>TCA379146192CDKN1Cn.143-724C>A
c.255+344C>A (n.255+344C>A)
c.632C>A (p.Ala211Asp)
c.599C>A (p.Ala200Asp)
 gnomAD v4
11g.2884858_2884859delinsGCCA1948368409CDKN1Cn.143-725_143-724delinsGC
c.255+343_255+344delinsGC (n.255+343_255+344delinsGC)
c.631_632delinsGC (p.Ala211=)
c.598_599delinsGC (p.Ala200=)
11g.2884859_2884860insCGGTGCCA5822204CDKN1Cn.143-724_143-723insACCGGC
c.255+344_255+345insACCGGC (n.255+344_255+345insACCGGC)
c.632_633insACCGGC (p.Ala211_Pro212insProAla)
c.599_600insACCGGC (p.Ala200_Pro201insProAla)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884859delCA2695213095CDKN1Cn.143-725del
c.255+343del (n.255+343del)
c.631del (p.Ala211ProfsTer?)
c.598del (p.Ala200ProfsTer?)
11g.2884859C>ACA379146202CDKN1Cn.143-725G>T
c.255+343G>T (n.255+343G>T)
c.631G>T (p.Ala211Ser)
c.598G>T (p.Ala200Ser)
 ClinVar gnomAD v4
11g.2884859C=CA1948368410CDKN1Cn.143-725G=
c.255+343G= (n.255+343G=)
c.631G= (p.Ala211=)
c.598G= (p.Ala200=)
11g.2884859C>GCA379146203CDKN1Cn.143-725G>C
c.255+343G>C (n.255+343G>C)
c.631G>C (p.Ala211Pro)
c.598G>C (p.Ala200Pro)
 dbSNP gnomAD v4
11g.2884859C>TCA16609694CDKN1Cn.143-725G>A
c.255+343G>A (n.255+343G>A)
c.631G>A (p.Ala211Thr)
c.598G>A (p.Ala200Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884859delinsTTCA274880CDKN1Cn.143-725delinsAA
c.255+343delinsAA (n.255+343delinsAA)
c.631delinsAA (p.Ala211AsnfsTer30)
c.598delinsAA (p.Ala200AsnfsTer30)
 ClinVar dbSNP
11g.2884864_2884888dupCA1139661757CDKN1Cn.143-749_143-725dup
c.255+319_255+343dup (n.255+319_255+343dup)
c.607_631dup (p.Ala211GlyfsTer38)
c.574_598dup (p.Ala200GlyfsTer38)
 ClinVar dbSNP
11g.2884860G>ACA216367251CDKN1Cn.143-726C>T
c.255+342C>T (n.255+342C>T)
c.630C>T (p.Pro210=)
c.597C>T (p.Pro199=)
 ClinVar dbSNP gnomAD v4
11g.2884860G>CCA5822206CDKN1Cn.143-726C>G
c.255+342C>G (n.255+342C>G)
c.630C>G (p.Pro210=)
c.597C>G (p.Pro199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2884860G=CA1948368411CDKN1Cn.143-726C=
c.255+342C= (n.255+342C=)
c.630C= (p.Pro210=)
c.597C= (p.Pro199=)
11g.2884860G>TCA472832259CDKN1Cn.143-726C>A
c.255+342C>A (n.255+342C>A)
c.630C>A (p.Pro210=)
c.597C>A (p.Pro199=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884861insAGCGGGGCCGGCA916084227CDKN1Cn.143-726_143-725insCGGCCCCGCTC
c.255+342_255+343insCGGCCCCGCTC (n.255+342_255+343insCGGCCCCGCTC)
c.630_631insCGGCCCCGCTC (p.Ala211ArgfsTer?)
c.597_598insCGGCCCCGCTC (p.Ala200ArgfsTer?)
11g.2884860_2884864delCA2612014430CDKN1Cn.143-730_143-726del
c.255+338_255+342del (n.255+338_255+342del)
c.626_630del (p.Ala209GlyfsTer30)
c.593_597del (p.Ala198GlyfsTer30)
 gnomAD v4
11g.2884864delCA2574728693CDKN1Cn.143-726del
c.255+342del (n.255+342del)
c.630del (p.Ala211ProfsTer?)
c.597del (p.Ala200ProfsTer?)
 gnomAD v4
11g.2884860_2884878delinsGGGGGCCGGGGCCGGGGCCCA1948368413CDKN1Cn.143-744_143-726delinsGGCCCCGGCCCCGGCCCCC
c.255+324_255+342delinsGGCCCCGGCCCCGGCCCCC (n.255+324_255+342delinsGGCCCCGGCCCCGGCCCCC)
c.612_630delinsGGCCCCGGCCCCGGCCCCC (p.Pro204=)
c.579_597delinsGGCCCCGGCCCCGGCCCCC (p.Pro193=)
11g.2884860_2884890delinsGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTCA1948368412CDKN1Cn.142+744_143-726delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC
c.255+312_255+342delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC (n.255+312_255+342delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC)
c.600_630delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC (p.Pro200=)
c.567_597delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC (p.Pro189=)
11g.2884861G>ACA379146222CDKN1Cn.143-727C>T
c.255+341C>T (n.255+341C>T)
c.629C>T (p.Pro210Leu)
c.596C>T (p.Pro199Leu)
 gnomAD v4
11g.2884861G>CCA379146219CDKN1Cn.143-727C>G
c.255+341C>G (n.255+341C>G)
c.629C>G (p.Pro210Arg)
c.596C>G (p.Pro199Arg)
 ClinVar
11g.2884861G>TCA379146218CDKN1Cn.143-727C>A
c.255+341C>A (n.255+341C>A)
c.629C>A (p.Pro210His)
c.596C>A (p.Pro199His)
 gnomAD v4
11g.2884868_2884869insAGCGGGGCCGGCA274879CDKN1Cn.143-727_143-726insGCTCCGGCCCC
c.255+341_255+342insGCTCCGGCCCC (n.255+341_255+342insGCTCCGGCCCC)
c.629_630insGCTCCGGCCCC (p.Ala211LeufsTer?)
c.596_597insGCTCCGGCCCC (p.Ala200LeufsTer?)
 ClinVar dbSNP
11g.2884869_2884870insCCGGGGCCGGGGCCGGGCA2590573237CDKN1Cn.143-727_143-726insGGCCCCGGCCCGGCCCC
c.255+341_255+342insGGCCCCGGCCCGGCCCC (n.255+341_255+342insGGCCCCGGCCCGGCCCC)
c.629_630insGGCCCCGGCCCGGCCCC (p.Pro214ArgfsTer?)
c.596_597insGGCCCCGGCCCGGCCCC (p.Pro203ArgfsTer?)
 gnomAD v3 gnomAD v4
11g.2884889_2884890insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCA597432647CDKN1Cn.143-727_143-726insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC
c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC)
c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaPro)
c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884889_2884890insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCA2580615616CDKN1Cn.143-727_143-726insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC
c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC)
c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaProAlaPro)
c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP
11g.2884889_2884890insGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCA2580615617CDKN1Cn.143-727_143-726insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC
c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC)
c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
11g.2884884_2884889dupCA10582894CDKN1Cn.143-732_143-727dup
c.255+336_255+341dup (n.255+336_255+341dup)
c.624_629dup (p.Pro210_Ala211insAlaPro)
c.591_596dup (p.Pro199_Ala200insAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884878_2884889dupCA675284205CDKN1Cn.143-738_143-727dup
c.255+330_255+341dup (n.255+330_255+341dup)
c.618_629dup (p.Pro210_Ala211insAlaProAlaPro)
c.585_596dup (p.Pro199_Ala200insAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884872_2884889dupCA934495540CDKN1Cn.143-744_143-727dup
c.255+324_255+341dup (n.255+324_255+341dup)
c.612_629dup (p.Pro210_Ala211insAlaProAlaProAlaPro)
c.579_596dup (p.Pro199_Ala200insAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884866_2884889dupCA658797575CDKN1Cn.143-750_143-727dup
c.255+318_255+341dup (n.255+318_255+341dup)
c.606_629dup (p.Pro210_Ala211insAlaProAlaProAlaProAlaPro)
c.573_596dup (p.Pro199_Ala200insAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884884_2884889delCA10582893CDKN1Cn.143-732_143-727del
c.255+336_255+341del (n.255+336_255+341del)
c.624_629del (p.Ala209_Pro210del)
c.591_596del (p.Ala198_Pro199del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884878_2884889delCA5822205CDKN1Cn.143-738_143-727del
c.255+330_255+341del (n.255+330_255+341del)
c.618_629del (p.Ala207_Pro210del)
c.585_596del (p.Ala196_Pro199del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884872_2884889delCA16613342CDKN1Cn.143-744_143-727del
c.255+324_255+341del (n.255+324_255+341del)
c.612_629del (p.Ala205_Pro210del)
c.579_596del (p.Ala194_Pro199del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884866_2884889delCA2612014432CDKN1Cn.143-750_143-727del
c.255+318_255+341del (n.255+318_255+341del)
c.606_629del (p.Ala203_Pro210del)
c.573_596del (p.Ala192_Pro199del)
 gnomAD v4
11g.2884874_2884903dupCA658656114CDKN1Cn.142+744_143-727dup
c.255+312_255+341dup (n.255+312_255+341dup)
c.600_629dup (p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaPro)
c.567_596dup (p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884874_2884903delCA16613541CDKN1Cn.142+744_143-727del
c.255+312_255+341del (n.255+312_255+341del)
c.600_629del (p.Ala201_Pro210del)
c.567_596del (p.Ala190_Pro199del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884868_2884903delCA2612014431CDKN1Cn.142+738_143-727del
c.255+306_255+341del (n.255+306_255+341del)
c.594_629del (p.Ala199_Pro210del)
c.561_596del (p.Ala188_Pro199del)
 gnomAD v4
11g.2884879_2884956delCA2499220887CDKN1Cn.142+696_143-727del
c.255+264_255+341del (n.255+264_255+341del)
c.552_629del (p.Ala185_Pro210del)
c.519_596del (p.Ala174_Pro199del)
 ClinVar dbSNP gnomAD v4
11g.2884873_2884956delCA934495535CDKN1Cn.142+690_143-727del
c.255+258_255+341del (n.255+258_255+341del)
c.546_629del (p.Ala183_Pro210del)
c.513_596del (p.Ala172_Pro199del)
 gnomAD v3 gnomAD v4
11g.2884862G>ACA379146228CDKN1Cn.143-728C>T
c.255+340C>T (n.255+340C>T)
c.628C>T (p.Pro210Ser)
c.595C>T (p.Pro199Ser)
 ClinVar dbSNP gnomAD v4
11g.2884862G>CCA379146231CDKN1Cn.143-728C>G
c.255+340C>G (n.255+340C>G)
c.628C>G (p.Pro210Ala)
c.595C>G (p.Pro199Ala)
 gnomAD v4
11g.2884862G=CA1948368414CDKN1Cn.143-728C=
c.255+340C= (n.255+340C=)
c.628C= (p.Pro210=)
c.595C= (p.Pro199=)
11g.2884862G>TCA379146233CDKN1Cn.143-728C>A
c.255+340C>A (n.255+340C>A)
c.628C>A (p.Pro210Thr)
c.595C>A (p.Pro199Thr)
 gnomAD v4
11g.2884865_2884869delCA2612014433CDKN1Cn.143-732_143-728del
c.255+336_255+340del (n.255+336_255+340del)
c.624_628del (p.Ala209ArgfsTer?)
c.591_595del (p.Ala198ArgfsTer?)
 gnomAD v4
11g.2884863G>ACA16613292CDKN1Cn.143-729C>T
c.255+339C>T (n.255+339C>T)
c.627C>T (p.Ala209=)
c.594C>T (p.Ala198=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884863G>CCA472832273CDKN1Cn.143-729C>G
c.255+339C>G (n.255+339C>G)
c.627C>G (p.Ala209=)
c.594C>G (p.Ala198=)
11g.2884863G=CA1948368416CDKN1Cn.143-729C=
c.255+339C= (n.255+339C=)
c.627C= (p.Ala209=)
c.594C= (p.Ala198=)
11g.2884863G>TCA472832275CDKN1Cn.143-729C>A
c.255+339C>A (n.255+339C>A)
c.627C>A (p.Ala209=)
c.594C>A (p.Ala198=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.2884863_2884911delinsGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGACA1948368415CDKN1Cn.142+723_143-729delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC
c.255+291_255+339delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC (n.255+291_255+339delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC)
c.579_627delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC (p.Ala193=)
c.546_594delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC (p.Ala182=)
11g.2884863_2884864insTGGACCA934495546CDKN1Cn.143-730_143-729insGTCCA
c.255+338_255+339insGTCCA (n.255+338_255+339insGTCCA)
c.626_627insGTCCA (p.Pro210SerfsTer?)
c.593_594insGTCCA (p.Pro199SerfsTer?)
 gnomAD v3 gnomAD v4
11g.2884864G>ACA379146236CDKN1Cn.143-730C>T
c.255+338C>T (n.255+338C>T)
c.626C>T (p.Ala209Val)
c.593C>T (p.Ala198Val)
 ClinVar dbSNP gnomAD v4
11g.2884864G>CCA379146239CDKN1Cn.143-730C>G
c.255+338C>G (n.255+338C>G)
c.626C>G (p.Ala209Gly)
c.593C>G (p.Ala198Gly)
 ClinVar dbSNP gnomAD v4
11g.2884864G=CA1948368417CDKN1Cn.143-730C=
c.255+338C= (n.255+338C=)
c.626C= (p.Ala209=)
c.593C= (p.Ala198=)
11g.2884864G>TCA379146241CDKN1Cn.143-730C>A
c.255+338C>A (n.255+338C>A)
c.626C>A (p.Ala209Asp)
c.593C>A (p.Ala198Asp)
 ClinVar gnomAD v4
11g.2884875_2884922delCA934495547CDKN1Cn.142+723_143-730del
c.255+291_255+338del (n.255+291_255+338del)
c.579_626del (p.Pro194_Ala209del)
c.546_593del (p.Pro183_Ala198del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884885_2884956dupCA2580082651CDKN1Cn.142+699_143-730dup
c.255+267_255+338dup (n.255+267_255+338dup)
c.555_626dup (p.Ala209_Pro210insProAlaProAlaProAlaProAlaProValAlaAlaProAlaProAlaProAlaProAlaProAlaProAla)
c.522_593dup (p.Ala198_Pro199insProAlaProAlaProAlaProAlaProValAlaAlaProAlaProAlaProAlaProAlaProAlaProAla)
 ClinVar
11g.2884865C>ACA379146244CDKN1Cn.143-731G>T
c.255+337G>T (n.255+337G>T)
c.625G>T (p.Ala209Ser)
c.592G>T (p.Ala198Ser)
 gnomAD v4
11g.2884865C=CA1948368418CDKN1Cn.143-731G=
c.255+337G= (n.255+337G=)
c.625G= (p.Ala209=)
c.592G= (p.Ala198=)
11g.2884865C>GCA379146247CDKN1Cn.143-731G>C
c.255+337G>C (n.255+337G>C)
c.625G>C (p.Ala209Pro)
c.592G>C (p.Ala198Pro)
11g.2884865C>TCA5822207CDKN1Cn.143-731G>A
c.255+337G>A (n.255+337G>A)
c.625G>A (p.Ala209Thr)
c.592G>A (p.Ala198Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884865_2884866delCA2574728694CDKN1Cn.143-732_143-731del
c.255+336_255+337del (n.255+336_255+337del)
c.624_625del (p.Ala209ProfsTer?)
c.591_592del (p.Ala198ProfsTer?)
11g.2884866C>ACA472832282CDKN1Cn.143-732G>T
c.255+336G>T (n.255+336G>T)
c.624G>T (p.Pro208=)
c.591G>T (p.Pro197=)
 gnomAD v4
11g.2884866C=CA1948368420CDKN1Cn.143-732G=
c.255+336G= (n.255+336G=)
c.624G= (p.Pro208=)
c.591G= (p.Pro197=)
11g.2884866C>GCA472832284CDKN1Cn.143-732G>C
c.255+336G>C (n.255+336G>C)
c.624G>C (p.Pro208=)
c.591G>C (p.Pro197=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884866C>TCA472832286CDKN1Cn.143-732G>A
c.255+336G>A (n.255+336G>A)
c.624G>A (p.Pro208=)
c.591G>A (p.Pro197=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884867_2884871delCA2612014436CDKN1Cn.143-736_143-732del
c.255+332_255+336del (n.255+332_255+336del)
c.620_624del (p.Ala207GlyfsTer?)
c.587_591del (p.Ala196GlyfsTer?)
 gnomAD v4
11g.2884866_2884890delinsCGGGGCCGGGGCCGGGGCCGGGGCTCA1948368419CDKN1Cn.142+744_143-732delinsAGCCCCGGCCCCGGCCCCGGCCCCG
c.255+312_255+336delinsAGCCCCGGCCCCGGCCCCGGCCCCG (n.255+312_255+336delinsAGCCCCGGCCCCGGCCCCGGCCCCG)
c.600_624delinsAGCCCCGGCCCCGGCCCCGGCCCCG (p.Pro200=)
c.567_591delinsAGCCCCGGCCCCGGCCCCGGCCCCG (p.Pro189=)
11g.2884867G>ACA379146250CDKN1Cn.143-733C>T
c.255+335C>T (n.255+335C>T)
c.623C>T (p.Pro208Leu)
c.590C>T (p.Pro197Leu)
 ClinVar gnomAD v3 gnomAD v4
11g.2884867G>CCA379146252CDKN1Cn.143-733C>G
c.255+335C>G (n.255+335C>G)
c.623C>G (p.Pro208Arg)
c.590C>G (p.Pro197Arg)
 gnomAD v4
11g.2884867G>TCA379146255CDKN1Cn.143-733C>A
c.255+335C>A (n.255+335C>A)
c.623C>A (p.Pro208Gln)
c.590C>A (p.Pro197Gln)
 gnomAD v4
11g.2884867_2884870delCA2612014438CDKN1Cn.143-736_143-733del
c.255+332_255+335del (n.255+332_255+335del)
c.620_623del (p.Ala207GlyfsTer?)
c.587_590del (p.Ala196GlyfsTer?)
 gnomAD v4
11g.2884870delCA2573053487CDKN1Cn.143-733del
c.255+335del (n.255+335del)
c.623del (p.Pro208ArgfsTer?)
c.590del (p.Pro197ArgfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884870_2884882delCA2612014437CDKN1Cn.143-745_143-733del
c.255+323_255+335del (n.255+323_255+335del)
c.611_623del (p.Pro204ArgfsTer?)
c.578_590del (p.Pro193ArgfsTer?)
 gnomAD v4
11g.2884880_2884903dupCA597432648CDKN1Cn.142+744_143-733dup
c.255+312_255+335dup (n.255+312_255+335dup)
c.600_623dup (p.Pro208_Ala209insAlaProAlaProAlaProAlaPro)
c.567_590dup (p.Pro197_Ala198insAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884880_2884903delCA10582895CDKN1Cn.142+744_143-733del
c.255+312_255+335del (n.255+312_255+335del)
c.600_623del (p.Ala201_Pro208del)
c.567_590del (p.Ala190_Pro197del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884868G>ACA379146258CDKN1Cn.143-734C>T
c.255+334C>T (n.255+334C>T)
c.622C>T (p.Pro208Ser)
c.589C>T (p.Pro197Ser)
 gnomAD v4
11g.2884868G>CCA379146260CDKN1Cn.143-734C>G
c.255+334C>G (n.255+334C>G)
c.622C>G (p.Pro208Ala)
c.589C>G (p.Pro197Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884868G=CA1948368421CDKN1Cn.143-734C=
c.255+334C= (n.255+334C=)
c.622C= (p.Pro208=)
c.589C= (p.Pro197=)
11g.2884868G>TCA379146263CDKN1Cn.143-734C>A
c.255+334C>A (n.255+334C>A)
c.622C>A (p.Pro208Thr)
c.589C>A (p.Pro197Thr)
 gnomAD v4
11g.2884868_2884869insCCCCCA2612014441CDKN1Cn.143-735_143-734insGGGG
c.255+333_255+334insGGGG (n.255+333_255+334insGGGG)
c.621_622insGGGG (p.Pro208GlyfsTer?)
c.588_589insGGGG (p.Pro197GlyfsTer?)
 gnomAD v4
11g.2884869G>ACA472832298CDKN1Cn.143-735C>T
c.255+333C>T (n.255+333C>T)
c.621C>T (p.Ala207=)
c.588C>T (p.Ala196=)
 ClinVar dbSNP gnomAD v4
11g.2884869G>CCA472832301CDKN1Cn.143-735C>G
c.255+333C>G (n.255+333C>G)
c.621C>G (p.Ala207=)
c.588C>G (p.Ala196=)
11g.2884869G=CA1948368422CDKN1Cn.143-735C=
c.255+333C= (n.255+333C=)
c.621C= (p.Ala207=)
c.588C= (p.Ala196=)
11g.2884869G>TCA472832302CDKN1Cn.143-735C>A
c.255+333C>A (n.255+333C>A)
c.621C>A (p.Ala207=)
c.588C>A (p.Ala196=)
 gnomAD v4
11g.2884870G>ACA379146267CDKN1Cn.143-736C>T
c.255+332C>T (n.255+332C>T)
c.620C>T (p.Ala207Val)
c.587C>T (p.Ala196Val)
 gnomAD v3 gnomAD v4
11g.2884870G>CCA379146269CDKN1Cn.143-736C>G
c.255+332C>G (n.255+332C>G)
c.620C>G (p.Ala207Gly)
c.587C>G (p.Ala196Gly)
11g.2884870G>TCA379146271CDKN1Cn.143-736C>A
c.255+332C>A (n.255+332C>A)
c.620C>A (p.Ala207Asp)
c.587C>A (p.Ala196Asp)
 gnomAD v4
11g.2884881_2884922dupCA2499220889CDKN1Cn.142+723_143-736dup
c.255+291_255+332dup (n.255+291_255+332dup)
c.579_620dup (p.Ala207_Pro208insProValAlaAlaProAlaProAlaProAlaProAlaProAla)
c.546_587dup (p.Ala196_Pro197insProValAlaAlaProAlaProAlaProAlaProAlaProAla)
 ClinVar dbSNP
11g.2884890_2884955dupCA2499220888CDKN1Cn.142+699_143-736dup
c.255+267_255+332dup (n.255+267_255+332dup)
c.555_620dup (p.Ala207_Pro208insProAlaProAlaProAlaProAlaProValAlaAlaProAlaProAlaProAlaProAlaProAla)
c.522_587dup (p.Ala196_Pro197insProAlaProAlaProAlaProAlaProValAlaAlaProAlaProAlaProAlaProAlaProAla)
 ClinVar dbSNP
11g.2884890_2884955delCA2580082652CDKN1Cn.142+699_143-736del
c.255+267_255+332del (n.255+267_255+332del)
c.555_620del (p.Pro186_Ala207del)
c.522_587del (p.Pro175_Ala196del)
 ClinVar gnomAD v3 gnomAD v4
11g.2884871C>ACA379146274CDKN1Cn.143-737G>T
c.255+331G>T (n.255+331G>T)
c.619G>T (p.Ala207Ser)
c.586G>T (p.Ala196Ser)
 gnomAD v4
11g.2884871C=CA1948368423CDKN1Cn.143-737G=
c.255+331G= (n.255+331G=)
c.619G= (p.Ala207=)
c.586G= (p.Ala196=)
11g.2884871C>GCA379146276CDKN1Cn.143-737G>C
c.255+331G>C (n.255+331G>C)
c.619G>C (p.Ala207Pro)
c.586G>C (p.Ala196Pro)
11g.2884871C>TCA379146278CDKN1Cn.143-737G>A
c.255+331G>A (n.255+331G>A)
c.619G>A (p.Ala207Thr)
c.586G>A (p.Ala196Thr)
 ClinVar dbSNP gnomAD v4
11g.2884872delCA2790205433CDKN1Cn.143-737del
c.255+331del (n.255+331del)
c.619del (p.Ala207ProfsTer?)
c.586del (p.Ala196ProfsTer?)
11g.2884872C>ACA472832312CDKN1Cn.143-738G>T
c.255+330G>T (n.255+330G>T)
c.618G>T (p.Pro206=)
c.585G>T (p.Pro195=)
 gnomAD v4
11g.2884872C=CA1948368425CDKN1Cn.143-738G=
c.255+330G= (n.255+330G=)
c.618G= (p.Pro206=)
c.585G= (p.Pro195=)
11g.2884872C>GCA472832313CDKN1Cn.143-738G>C
c.255+330G>C (n.255+330G>C)
c.618G>C (p.Pro206=)
c.585G>C (p.Pro195=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2884872C>TCA16613542CDKN1Cn.143-738G>A
c.255+330G>A (n.255+330G>A)
c.618G>A (p.Pro206=)
c.585G>A (p.Pro195=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884872_2884873delinsCGCA1948368426CDKN1Cn.143-739_143-738delinsCG
c.255+329_255+330delinsCG (n.255+329_255+330delinsCG)
c.617_618delinsCG (p.Pro206=)
c.584_585delinsCG (p.Pro195=)
11g.2884872_2884879delCA2612014442CDKN1Cn.143-745_143-738del
c.255+323_255+330del (n.255+323_255+330del)
c.611_618del (p.Pro204ArgfsTer?)
c.578_585del (p.Pro193ArgfsTer?)
 gnomAD v4
11g.2884872_2884890delinsCGGGGCCGGGGCCGGGGCTCA1948368424CDKN1Cn.142+744_143-738delinsAGCCCCGGCCCCGGCCCCG
c.255+312_255+330delinsAGCCCCGGCCCCGGCCCCG (n.255+312_255+330delinsAGCCCCGGCCCCGGCCCCG)
c.600_618delinsAGCCCCGGCCCCGGCCCCG (p.Pro200=)
c.567_585delinsAGCCCCGGCCCCGGCCCCG (p.Pro189=)
11g.2884873G>ACA379146281CDKN1Cn.143-739C>T
c.255+329C>T (n.255+329C>T)
c.617C>T (p.Pro206Leu)
c.584C>T (p.Pro195Leu)
 gnomAD v4
11g.2884873G>CCA216367267CDKN1Cn.143-739C>G
c.255+329C>G (n.255+329C>G)
c.617C>G (p.Pro206Arg)
c.584C>G (p.Pro195Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884873G=CA1948368428CDKN1Cn.143-739C=
c.255+329C= (n.255+329C=)
c.617C= (p.Pro206=)
c.584C= (p.Pro195=)
11g.2884873G>TCA379146285CDKN1Cn.143-739C>A
c.255+329C>A (n.255+329C>A)
c.617C>A (p.Pro206Gln)
c.584C>A (p.Pro195Gln)
 gnomAD v4
11g.2884873_2884874insCGACTGCA2574728695CDKN1Cn.143-739_143-738insAGTCGC
c.255+329_255+330insAGTCGC (n.255+329_255+330insAGTCGC)
c.617_618insAGTCGC (p.Pro206_Ala207insValAla)
c.584_585insAGTCGC (p.Pro195_Ala196insValAla)
11g.2884873_2884876delCA2612014443CDKN1Cn.143-742_143-739del
c.255+326_255+329del (n.255+326_255+329del)
c.614_617del (p.Ala205GlyfsTer?)
c.581_584del (p.Ala194GlyfsTer?)
 gnomAD v4
11g.2884876delCA1948368427CDKN1Cn.143-739del
c.255+329del (n.255+329del)
c.617del (p.Pro206ArgfsTer?)
c.584del (p.Pro195ArgfsTer?)
 dbSNP gnomAD v4
11g.2884886_2884903dupCA2499220890CDKN1Cn.142+744_143-739dup
c.255+312_255+329dup (n.255+312_255+329dup)
c.600_617dup (p.Pro206_Ala207insAlaProAlaProAlaPro)
c.567_584dup (p.Pro195_Ala196insAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v4
11g.2884886_2884903delCA10582896CDKN1Cn.142+744_143-739del
c.255+312_255+329del (n.255+312_255+329del)
c.600_617del (p.Ala201_Pro206del)
c.567_584del (p.Ala190_Pro195del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884874G>ACA379146288CDKN1Cn.143-740C>T
c.255+328C>T (n.255+328C>T)
c.616C>T (p.Pro206Ser)
c.583C>T (p.Pro195Ser)
 ClinVar gnomAD v4
11g.2884874G>CCA379146291CDKN1Cn.143-740C>G
c.255+328C>G (n.255+328C>G)
c.616C>G (p.Pro206Ala)
c.583C>G (p.Pro195Ala)
11g.2884874G>TCA379146293CDKN1Cn.143-740C>A
c.255+328C>A (n.255+328C>A)
c.616C>A (p.Pro206Thr)
c.583C>A (p.Pro195Thr)
11g.2884877_2884881delCA2574728696CDKN1Cn.143-744_143-740del
c.255+324_255+328del (n.255+324_255+328del)
c.612_616del (p.Ala205GlyfsTer?)
c.579_583del (p.Ala194GlyfsTer?)
11g.2884875G>ACA472832326CDKN1Cn.143-741C>T
c.255+327C>T (n.255+327C>T)
c.615C>T (p.Ala205=)
c.582C>T (p.Ala194=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884875G>CCA472832327CDKN1Cn.143-741C>G
c.255+327C>G (n.255+327C>G)
c.615C>G (p.Ala205=)
c.582C>G (p.Ala194=)
11g.2884875G=CA1948368429CDKN1Cn.143-741C=
c.255+327C= (n.255+327C=)
c.615C= (p.Ala205=)
c.582C= (p.Ala194=)
11g.2884875G>TCA472832330CDKN1Cn.143-741C>A
c.255+327C>A (n.255+327C>A)
c.615C>A (p.Ala205=)
c.582C>A (p.Ala194=)
 ClinVar
11g.2884875_2884911delinsGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGACA1948368430CDKN1Cn.142+723_143-741delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC
c.255+291_255+327delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC (n.255+291_255+327delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC)
c.579_615delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC (p.Ala193=)
c.546_582delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC (p.Ala182=)
11g.2884876G>ACA379146296CDKN1Cn.143-742C>T
c.255+326C>T (n.255+326C>T)
c.614C>T (p.Ala205Val)
c.581C>T (p.Ala194Val)
 gnomAD v3 gnomAD v4
11g.2884876G>CCA379146297CDKN1Cn.143-742C>G
c.255+326C>G (n.255+326C>G)
c.614C>G (p.Ala205Gly)
c.581C>G (p.Ala194Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.2884876G=CA1948368431CDKN1Cn.143-742C=
c.255+326C= (n.255+326C=)
c.614C= (p.Ala205=)
c.581C= (p.Ala194=)
11g.2884876G>TCA379146300CDKN1Cn.143-742C>A
c.255+326C>A (n.255+326C>A)
c.614C>A (p.Ala205Asp)
c.581C>A (p.Ala194Asp)
 gnomAD v4
11g.2884887_2884922delCA658797576CDKN1Cn.142+723_143-742del
c.255+291_255+326del (n.255+291_255+326del)
c.579_614del (p.Pro194_Ala205del)
c.546_581del (p.Pro183_Ala194del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884881_2884928delCA2612014444CDKN1Cn.142+711_143-742del
c.255+279_255+326del (n.255+279_255+326del)
c.567_614del (p.Pro190_Ala205del)
c.534_581del (p.Pro179_Ala194del)
 dbSNP gnomAD v4
11g.2884881_2884934delCA2548370571CDKN1Cn.142+705_143-742del
c.255+273_255+326del (n.255+273_255+326del)
c.561_614del (p.Pro188_Ala205del)
c.528_581del (p.Pro177_Ala194del)
11g.2884890_2884949delCA934495564CDKN1Cn.142+699_143-742del
c.255+267_255+326del (n.255+267_255+326del)
c.555_614del (p.Pro186_Ala205del)
c.522_581del (p.Pro175_Ala194del)
 gnomAD v3 gnomAD v4
11g.2884877C>ACA379146303CDKN1Cn.143-743G>T
c.255+325G>T (n.255+325G>T)
c.613G>T (p.Ala205Ser)
c.580G>T (p.Ala194Ser)
11g.2884877C>GCA379146305CDKN1Cn.143-743G>C
c.255+325G>C (n.255+325G>C)
c.613G>C (p.Ala205Pro)
c.580G>C (p.Ala194Pro)
 gnomAD v4
11g.2884877C>TCA379146308CDKN1Cn.143-743G>A
c.255+325G>A (n.255+325G>A)
c.613G>A (p.Ala205Thr)
c.580G>A (p.Ala194Thr)
 gnomAD v4
11g.2884878_2884907delCA2499220891CDKN1Cn.142+728_143-743del
c.255+296_255+325del (n.255+296_255+325del)
c.584_613del (p.Val195_Pro204del)
c.551_580del (p.Val184_Pro193del)
 ClinVar dbSNP
11g.2884877_2884911delCA2790205443CDKN1Cn.142+723_143-743del
c.255+291_255+325del (n.255+291_255+325del)
c.579_613del (p.Val195GlyfsTer?)
c.546_580del (p.Val184GlyfsTer?)
11g.2884878C>ACA472832340CDKN1Cn.143-744G>T
c.255+324G>T (n.255+324G>T)
c.612G>T (p.Pro204=)
c.579G>T (p.Pro193=)
 ClinVar dbSNP gnomAD v4
11g.2884878C=CA1948368433CDKN1Cn.143-744G=
c.255+324G= (n.255+324G=)
c.612G= (p.Pro204=)
c.579G= (p.Pro193=)
11g.2884878C>GCA472832342CDKN1Cn.143-744G>C
c.255+324G>C (n.255+324G>C)
c.612G>C (p.Pro204=)
c.579G>C (p.Pro193=)
 ClinVar dbSNP gnomAD v4
11g.2884878C>TCA238549CDKN1Cn.143-744G>A
c.255+324G>A (n.255+324G>A)
c.612G>A (p.Pro204=)
c.579G>A (p.Pro193=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884878_2884890delinsCGGGGCCGGGGCTCA1948368432CDKN1Cn.142+744_143-744delinsAGCCCCGGCCCCG
c.255+312_255+324delinsAGCCCCGGCCCCG (n.255+312_255+324delinsAGCCCCGGCCCCG)
c.600_612delinsAGCCCCGGCCCCG (p.Pro200=)
c.567_579delinsAGCCCCGGCCCCG (p.Pro189=)
11g.2884878_2884911delinsTGGGCA2573145969CDKN1Cn.142+723_143-744delinsCCCA
c.255+291_255+324delinsCCCA (n.255+291_255+324delinsCCCA)
c.579_612delinsCCCA (p.Val195_Pro204del)
c.546_579delinsCCCA (p.Val184_Pro193del)
 ClinVar dbSNP
11g.2884879G>ACA379146318CDKN1Cn.143-745C>T
c.255+323C>T (n.255+323C>T)
c.611C>T (p.Pro204Leu)
c.578C>T (p.Pro193Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884879G>CCA216367273CDKN1Cn.143-745C>G
c.255+323C>G (n.255+323C>G)
c.611C>G (p.Pro204Arg)
c.578C>G (p.Pro193Arg)
 ClinVar dbSNP gnomAD v4
11g.2884879G=CA1948368434CDKN1Cn.143-745C=
c.255+323C= (n.255+323C=)
c.611C= (p.Pro204=)
c.578C= (p.Pro193=)
11g.2884879G>TCA379146313CDKN1Cn.143-745C>A
c.255+323C>A (n.255+323C>A)
c.611C>A (p.Pro204Gln)
c.578C>A (p.Pro193Gln)
 ClinVar gnomAD v4
11g.2884879_2884880insCGACTGCA2697548342CDKN1Cn.143-745_143-744insAGTCGC
c.255+323_255+324insAGTCGC (n.255+323_255+324insAGTCGC)
c.611_612insAGTCGC (p.Pro204_Ala205insValAla)
c.578_579insAGTCGC (p.Pro193_Ala194insValAla)
 ClinVar
11g.2884882delCA2573145970CDKN1Cn.143-745del
c.255+323del (n.255+323del)
c.611del (p.Pro204ArgfsTer?)
c.578del (p.Pro193ArgfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884880_2884882delCA2612014447CDKN1Cn.143-747_143-745del
c.255+321_255+323del (n.255+321_255+323del)
c.609_611del (p.Pro204del)
c.576_578del (p.Pro193del)
 gnomAD v4
11g.2884889_2884890insGGGGGCCGGGGCCA2580615607CDKN1Cn.143-745_143-744insCGCCCCGGCCCC
c.255+323_255+324insCGCCCCGGCCCC (n.255+323_255+324insCGCCCCGGCCCC)
c.611_612insCGCCCCGGCCCC (p.Pro204_Ala205insAlaProAlaPro)
c.578_579insCGCCCCGGCCCC (p.Pro193_Ala194insAlaProAlaPro)
 dbSNP
11g.2884879_2884894delinsAGGACCGCGACTGCGACA2740093582CDKN1Cn.142+740_143-745delinsTCGCAGTCGCGGTCCT
c.255+308_255+323delinsTCGCAGTCGCGGTCCT (n.255+308_255+323delinsTCGCAGTCGCGGTCCT)
c.596_611delinsTCGCAGTCGCGGTCCT (p.Ala199_Pro204delinsValAlaValAlaValLeu)
c.563_578delinsTCGCAGTCGCGGTCCT (p.Ala188_Pro193delinsValAlaValAlaValLeu)
 ClinVar
11g.2884890_2884901dupCA10582898CDKN1Cn.142+744_143-745dup
c.255+312_255+323dup (n.255+312_255+323dup)
c.600_611dup (p.Pro204_Ala205insAlaProAlaPro)
c.567_578dup (p.Pro193_Ala194insAlaProAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884890_2884901delCA10582897CDKN1Cn.142+744_143-745del
c.255+312_255+323del (n.255+312_255+323del)
c.600_611del (p.Ala201_Pro204del)
c.567_578del (p.Ala190_Pro193del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884880G>ACA379146321CDKN1Cn.143-746C>T
c.255+322C>T (n.255+322C>T)
c.610C>T (p.Pro204Ser)
c.577C>T (p.Pro193Ser)
 dbSNP gnomAD v4
11g.2884880G>CCA379146324CDKN1Cn.143-746C>G
c.255+322C>G (n.255+322C>G)
c.610C>G (p.Pro204Ala)
c.577C>G (p.Pro193Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884880G=CA1948368435CDKN1Cn.143-746C=
c.255+322C= (n.255+322C=)
c.610C= (p.Pro204=)
c.577C= (p.Pro193=)
11g.2884880G>TCA379146322CDKN1Cn.143-746C>A
c.255+322C>A (n.255+322C>A)
c.610C>A (p.Pro204Thr)
c.577C>A (p.Pro193Thr)
 gnomAD v4
11g.2884882_2884883insTCCGGGCA916084228CDKN1Cn.143-746_143-745insGGACCC
c.255+322_255+323insGGACCC (n.255+322_255+323insGGACCC)
c.610_611insGGACCC (p.Ala203_Pro204insArgThr)
c.577_578insGGACCC (p.Ala192_Pro193insArgThr)
11g.2884881G>ACA472832363CDKN1Cn.143-747C>T
c.255+321C>T (n.255+321C>T)
c.609C>T (p.Ala203=)
c.576C>T (p.Ala192=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884881G>CCA472832362CDKN1Cn.143-747C>G
c.255+321C>G (n.255+321C>G)
c.609C>G (p.Ala203=)
c.576C>G (p.Ala192=)
11g.2884881G=CA1948368436CDKN1Cn.143-747C=
c.255+321C= (n.255+321C=)
c.609C= (p.Ala203=)
c.576C= (p.Ala192=)
11g.2884881G>TCA472832360CDKN1Cn.143-747C>A
c.255+321C>A (n.255+321C>A)
c.609C>A (p.Ala203=)
c.576C>A (p.Ala192=)
 ClinVar gnomAD v4
11g.2884882G>ACA379146326CDKN1Cn.143-748C>T
c.255+320C>T (n.255+320C>T)
c.608C>T (p.Ala203Val)
c.575C>T (p.Ala192Val)
 gnomAD v3 gnomAD v4
11g.2884882G>CCA379146328CDKN1Cn.143-748C>G
c.255+320C>G (n.255+320C>G)
c.608C>G (p.Ala203Gly)
c.575C>G (p.Ala192Gly)
11g.2884882G=CA1948368437CDKN1Cn.143-748C=
c.255+320C= (n.255+320C=)
c.608C= (p.Ala203=)
c.575C= (p.Ala192=)
11g.2884882G>TCA379146329CDKN1Cn.143-748C>A
c.255+320C>A (n.255+320C>A)
c.608C>A (p.Ala203Asp)
c.575C>A (p.Ala192Asp)
11g.2884882_2884884delinsGCCCA1948368438CDKN1Cn.143-750_143-748delinsGGC
c.255+318_255+320delinsGGC (n.255+318_255+320delinsGGC)
c.606_608delinsGGC (p.Pro202=)
c.573_575delinsGGC (p.Pro191=)
11g.2884890_2884943delCA2590573252CDKN1Cn.142+699_143-748del
c.255+267_255+320del (n.255+267_255+320del)
c.555_608del (p.Pro186_Ala203del)
c.522_575del (p.Pro175_Ala192del)
 gnomAD v3 gnomAD v4
11g.2884890_2885015delCA2558132972CDKN1Cn.142+627_143-748del
c.255+195_255+320del (n.255+195_255+320del)
c.483_608del (p.Pro162_Ala203del)
c.450_575del (p.Pro151_Ala192del)
11g.2884883C>ACA379146330CDKN1Cn.143-749G>T
c.255+319G>T (n.255+319G>T)
c.607G>T (p.Ala203Ser)
c.574G>T (p.Ala192Ser)
11g.2884883C>GCA379146332CDKN1Cn.143-749G>C
c.255+319G>C (n.255+319G>C)
c.607G>C (p.Ala203Pro)
c.574G>C (p.Ala192Pro)
 gnomAD v4
11g.2884883C>TCA379146333CDKN1Cn.143-749G>A
c.255+319G>A (n.255+319G>A)
c.607G>A (p.Ala203Thr)
c.574G>A (p.Ala192Thr)
 gnomAD v4
11g.2884883_2884884delCA658821648CDKN1Cn.143-750_143-749del
c.255+318_255+319del (n.255+318_255+319del)
c.606_607del (p.Ala203ProfsTer?)
c.573_574del (p.Ala192ProfsTer?)
 ClinVar dbSNP
11g.2884883_2884886delinsCCGGCA1948368439CDKN1Cn.142+748_143-749delinsCCGG
c.255+316_255+319delinsCCGG (n.255+316_255+319delinsCCGG)
c.604_607delinsCCGG (p.Pro202=)
c.571_574delinsCCGG (p.Pro191=)
11g.2884887_2884888insTCCGGGCA915947941CDKN1Cn.143-749_143-748insACCCGG
c.255+319_255+320insACCCGG (n.255+319_255+320insACCCGG)
c.607_608insACCCGG (p.Pro202_Ala203insAspPro)
c.574_575insACCCGG (p.Pro191_Ala192insAspPro)
 ClinVar dbSNP gnomAD v4
11g.2884884C>ACA472832373CDKN1Cn.143-750G>T
c.255+318G>T (n.255+318G>T)
c.606G>T (p.Pro202=)
c.573G>T (p.Pro191=)
 gnomAD v4
11g.2884884C=CA1948368440CDKN1Cn.143-750G=
c.255+318G= (n.255+318G=)
c.606G= (p.Pro202=)
c.573G= (p.Pro191=)
11g.2884884C>GCA472832374CDKN1Cn.143-750G>C
c.255+318G>C (n.255+318G>C)
c.606G>C (p.Pro202=)
c.573G>C (p.Pro191=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884884C>TCA472832377CDKN1Cn.143-750G>A
c.255+318G>A (n.255+318G>A)
c.606G>A (p.Pro202=)
c.573G>A (p.Pro191=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884884_2884886delCA918806244CDKN1Cn.142+748_143-750del
c.255+316_255+318del (n.255+316_255+318del)
c.604_606del (p.Pro202del)
c.571_573del (p.Pro191del)
 dbSNP gnomAD v4
11g.2884884_2884890delinsCGGGGCTCA1948368441CDKN1Cn.142+744_143-750delinsAGCCCCG
c.255+312_255+318delinsAGCCCCG (n.255+312_255+318delinsAGCCCCG)
c.600_606delinsAGCCCCG (p.Pro200=)
c.567_573delinsAGCCCCG (p.Pro189=)
11g.2884885G>ACA379146335CDKN1Cn.142+749C>T
c.255+317C>T (n.255+317C>T)
c.605C>T (p.Pro202Leu)
c.572C>T (p.Pro191Leu)
 ClinVar gnomAD v4
11g.2884885G>CCA379146337CDKN1Cn.142+749C>G
c.255+317C>G (n.255+317C>G)
c.605C>G (p.Pro202Arg)
c.572C>G (p.Pro191Arg)
 gnomAD v4
11g.2884885G>TCA379146338CDKN1Cn.142+749C>A
c.255+317C>A (n.255+317C>A)
c.605C>A (p.Pro202Gln)
c.572C>A (p.Pro191Gln)
11g.2884888dupCA2697548343CDKN1Cn.142+749dup
c.255+317dup (n.255+317dup)
c.605dup (p.Ala203GlyfsTer?)
c.572dup (p.Ala192GlyfsTer?)
 ClinVar
11g.2884890_2884895dupCA16613575CDKN1Cn.142+744_142+749dup
c.255+312_255+317dup (n.255+312_255+317dup)
c.600_605dup (p.Pro202_Ala203insAlaPro)
c.567_572dup (p.Pro191_Ala192insAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884890_2884895delCA597432649CDKN1Cn.142+744_142+749del
c.255+312_255+317del (n.255+312_255+317del)
c.600_605del (p.Ala201_Pro202del)
c.567_572del (p.Ala190_Pro191del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884886G>ACA379146340CDKN1Cn.142+748C>T
c.255+316C>T (n.255+316C>T)
c.604C>T (p.Pro202Ser)
c.571C>T (p.Pro191Ser)
 gnomAD v4
11g.2884886G>CCA379146342CDKN1Cn.142+748C>G
c.255+316C>G (n.255+316C>G)
c.604C>G (p.Pro202Ala)
c.571C>G (p.Pro191Ala)
 dbSNP gnomAD v4
11g.2884886G=CA1948368442CDKN1Cn.142+748C=
c.255+316C= (n.255+316C=)
c.604C= (p.Pro202=)
c.571C= (p.Pro191=)
11g.2884886G>TCA379146343CDKN1Cn.142+748C>A
c.255+316C>A (n.255+316C>A)
c.604C>A (p.Pro202Thr)
c.571C>A (p.Pro191Thr)
 gnomAD v4
11g.2884889_2884893delCA2574728697CDKN1Cn.142+744_142+748del
c.255+312_255+316del (n.255+312_255+316del)
c.600_604del (p.Ala201GlyfsTer?)
c.567_571del (p.Ala190GlyfsTer?)
11g.2884886_2884895delCA2612014448CDKN1Cn.142+739_142+748del
c.255+307_255+316del (n.255+307_255+316del)
c.595_604del (p.Ala199ArgfsTer?)
c.562_571del (p.Ala188ArgfsTer?)
 gnomAD v4
11g.2884887G>ACA472832386CDKN1Cn.142+747C>T
c.255+315C>T (n.255+315C>T)
c.603C>T (p.Ala201=)
c.570C>T (p.Ala190=)
 ClinVar dbSNP gnomAD v4
11g.2884887G>CCA472832390CDKN1Cn.142+747C>G
c.255+315C>G (n.255+315C>G)
c.603C>G (p.Ala201=)
c.570C>G (p.Ala190=)
 ClinVar dbSNP
11g.2884887G=CA1948368443CDKN1Cn.142+747C=
c.255+315C= (n.255+315C=)
c.603C= (p.Ala201=)
c.570C= (p.Ala190=)
11g.2884887G>TCA472832388CDKN1Cn.142+747C>A
c.255+315C>A (n.255+315C>A)
c.603C>A (p.Ala201=)
c.570C>A (p.Ala190=)
 gnomAD v4
11g.2884888_2884905dupCA2573145971CDKN1Cn.142+730_142+747dup
c.255+298_255+315dup (n.255+298_255+315dup)
c.586_603dup (p.Ala201_Pro202insAlaAlaProAlaProAla)
c.553_570dup (p.Ala190_Pro191insAlaAlaProAlaProAla)
 ClinVar dbSNP
11g.2884887_2884911delinsGGCTGGGGCCGGGGCCGCGACTGGACA1948368444CDKN1Cn.142+723_142+747delinsTCCAGTCGCGGCCCCGGCCCCAGCC
c.255+291_255+315delinsTCCAGTCGCGGCCCCGGCCCCAGCC (n.255+291_255+315delinsTCCAGTCGCGGCCCCGGCCCCAGCC)
c.579_603delinsTCCAGTCGCGGCCCCGGCCCCAGCC (p.Ala193=)
c.546_570delinsTCCAGTCGCGGCCCCGGCCCCAGCC (p.Ala182=)
11g.2884888G>ACA379146345CDKN1Cn.142+746C>T
c.255+314C>T (n.255+314C>T)
c.602C>T (p.Ala201Val)
c.569C>T (p.Ala190Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884888G>CCA379146347CDKN1Cn.142+746C>G
c.255+314C>G (n.255+314C>G)
c.602C>G (p.Ala201Gly)
c.569C>G (p.Ala190Gly)
11g.2884888G=CA1948368446CDKN1Cn.142+746C=
c.255+314C= (n.255+314C=)
c.602C= (p.Ala201=)
c.569C= (p.Ala190=)
11g.2884888G>TCA379146346CDKN1Cn.142+746C>A
c.255+314C>A (n.255+314C>A)
c.602C>A (p.Ala201Asp)
c.569C>A (p.Ala190Asp)
 gnomAD v4
11g.2884889_2884890insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGCGACTGGAGCCA2580615608CDKN1Cn.142+746_142+747insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC
c.255+314_255+315insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (n.255+314_255+315insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC)
c.602_603insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (p.Ala201_Pro202insProValAlaAlaProAlaProAlaProAlaProAlaProAla)
c.569_570insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (p.Ala190_Pro191insProValAlaAlaProAlaProAlaProAlaProAlaProAla)
 dbSNP
11g.2884888_2884906delinsGCTGGGGCCGGGGCCGCGACA1948368445CDKN1Cn.142+728_142+746delinsTCGCGGCCCCGGCCCCAGC
c.255+296_255+314delinsTCGCGGCCCCGGCCCCAGC (n.255+296_255+314delinsTCGCGGCCCCGGCCCCAGC)
c.584_602delinsTCGCGGCCCCGGCCCCAGC (p.Val195=)
c.551_569delinsTCGCGGCCCCGGCCCCAGC (p.Val184=)
11g.2884890_2884913delCA915947942CDKN1Cn.142+723_142+746del
c.255+291_255+314del (n.255+291_255+314del)
c.579_602del (p.Pro194_Ala201del)
c.546_569del (p.Pro183_Ala190del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884890_2884925delCA2612014450CDKN1Cn.142+711_142+746del
c.255+279_255+314del (n.255+279_255+314del)
c.567_602del (p.Pro190_Ala201del)
c.534_569del (p.Pro179_Ala190del)
 gnomAD v4
11g.2884889C>ACA379146349CDKN1Cn.142+745G>T
c.255+313G>T (n.255+313G>T)
c.601G>T (p.Ala201Ser)
c.568G>T (p.Ala190Ser)
 gnomAD v4
11g.2884889C>GCA379146350CDKN1Cn.142+745G>C
c.255+313G>C (n.255+313G>C)
c.601G>C (p.Ala201Pro)
c.568G>C (p.Ala190Pro)
11g.2884889C>TCA379146352CDKN1Cn.142+745G>A
c.255+313G>A (n.255+313G>A)
c.601G>A (p.Ala201Thr)
c.568G>A (p.Ala190Thr)
 ClinVar dbSNP gnomAD v4
11g.2884889_2884890insCGCGACCA1948368447CDKN1Cn.142+745_142+746insTCGCGG
c.255+313_255+314insTCGCGG (n.255+313_255+314insTCGCGG)
c.601_602insTCGCGG (p.Pro200_Ala201insValAla)
c.568_569insTCGCGG (p.Pro189_Ala190insValAla)
 ClinVar dbSNP
11g.2884893_2884910delCA1948368448CDKN1Cn.142+728_142+745del
c.255+296_255+313del (n.255+296_255+313del)
c.584_601del (p.Val195_Pro200del)
c.551_568del (p.Val184_Pro189del)
 ClinVar dbSNP
11g.2884890T>ACA472832398CDKN1Cn.142+744A>T
c.255+312A>T (n.255+312A>T)
c.600A>T (p.Pro200=)
c.567A>T (p.Pro189=)
11g.2884890T>CCA10582899CDKN1Cn.142+744A>G
c.255+312A>G (n.255+312A>G)
c.600A>G (p.Pro200=)
c.567A>G (p.Pro189=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884890T>GCA472832400CDKN1Cn.142+744A>C
c.255+312A>C (n.255+312A>C)
c.600A>C (p.Pro200=)
c.567A>C (p.Pro189=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884890T=CA1948368452CDKN1Cn.142+744A=
c.255+312A= (n.255+312A=)
c.600A= (p.Pro200=)
c.567A= (p.Pro189=)
11g.2884890_2884902delinsTGGGGCCGGGGCCCA1948368451CDKN1Cn.142+732_142+744delinsGGCCCCGGCCCCA
c.255+300_255+312delinsGGCCCCGGCCCCA (n.255+300_255+312delinsGGCCCCGGCCCCA)
c.588_600delinsGGCCCCGGCCCCA (p.Ala196=)
c.555_567delinsGGCCCCGGCCCCA (p.Ala185=)
11g.2884890_2884914delinsTGGGGCCGGGGCCGCGACTGGAGCCCA1948368450CDKN1Cn.142+720_142+744delinsGGCTCCAGTCGCGGCCCCGGCCCCA
c.255+288_255+312delinsGGCTCCAGTCGCGGCCCCGGCCCCA (n.255+288_255+312delinsGGCTCCAGTCGCGGCCCCGGCCCCA)
c.576_600delinsGGCTCCAGTCGCGGCCCCGGCCCCA (p.Pro192=)
c.543_567delinsGGCTCCAGTCGCGGCCCCGGCCCCA (p.Pro181=)
11g.2884890_2884935delinsCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGGCA2573145972CDKN1Cn.142+699_142+744delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG
c.255+267_255+312delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG (n.255+267_255+312delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG)
c.555_600delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG (p.Ala197_Pro200del)
c.522_567delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG (p.Ala186_Pro189del)
 ClinVar dbSNP
11g.2884890_2884938delinsTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCCA1948368449CDKN1Cn.142+696_142+744delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA
c.255+264_255+312delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA (n.255+264_255+312delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA)
c.552_600delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA (p.Pro184=)
c.519_567delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA (p.Pro173=)
11g.2884890_2884957delinsCGGGGCCGCA2580082657CDKN1Cn.142+677_142+744delinsCGGCCCCG
c.255+245_255+312delinsCGGCCCCG (n.255+245_255+312delinsCGGCCCCG)
c.533_600delinsCGGCCCCG (p.Leu178_Ala197del)
c.500_567delinsCGGCCCCG (p.Leu167_Ala186del)
 ClinVar

Number of alleles fetched