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.2884745_2884748delCA2612014396CDKN1Cn.143-613_143-610del
c.255+455_255+458del (n.255+455_255+458del)
c.743_746del (p.Gly248ValfsTer23)
c.710_713del (p.Gly237ValfsTer23)
gnomAD v4
11g.2884746T>ACA472483376CDKN1Cn.143-612A>T
c.255+456A>T (n.255+456A>T)
c.744A>T (p.Gly248=)
c.711A>T (p.Gly237=)
11g.2884746T>CCA472483377CDKN1Cn.143-612A>G
c.255+456A>G (n.255+456A>G)
c.744A>G (p.Gly248=)
c.711A>G (p.Gly237=)
gnomAD v4
11g.2884746T>GCA472483378CDKN1Cn.143-612A>C
c.255+456A>C (n.255+456A>C)
c.744A>C (p.Gly248=)
c.711A>C (p.Gly237=)
11g.2884747C>ACA379145663CDKN1Cn.143-613G>T
c.255+455G>T (n.255+455G>T)
c.743G>T (p.Gly248Val)
c.710G>T (p.Gly237Val)
gnomAD v4
11g.2884747C=CA1948368320CDKN1Cn.143-613G=
c.255+455G= (n.255+455G=)
c.743G= (p.Gly248=)
c.710G= (p.Gly237=)
11g.2884747C>GCA379145664CDKN1Cn.143-613G>C
c.255+455G>C (n.255+455G>C)
c.743G>C (p.Gly248Ala)
c.710G>C (p.Gly237Ala)
dbSNP
11g.2884747C>TCA379145665CDKN1Cn.143-613G>A
c.255+455G>A (n.255+455G>A)
c.743G>A (p.Gly248Glu)
c.710G>A (p.Gly237Glu)
gnomAD v4
11g.2884749delCA2612014397CDKN1Cn.143-613del
c.255+455del (n.255+455del)
c.743del (p.Gly248AspfsTer24)
c.710del (p.Gly237AspfsTer24)
gnomAD v4
11g.2884748C>ACA379145666CDKN1Cn.143-614G>T
c.255+454G>T (n.255+454G>T)
c.742G>T (p.Gly248Ter)
c.709G>T (p.Gly237Ter)
gnomAD v4
11g.2884748C=CA1948368321CDKN1Cn.143-614G=
c.255+454G= (n.255+454G=)
c.742G= (p.Gly248=)
c.709G= (p.Gly237=)
11g.2884748C>GCA379145667CDKN1Cn.143-614G>C
c.255+454G>C (n.255+454G>C)
c.742G>C (p.Gly248Arg)
c.709G>C (p.Gly237Arg)
11g.2884748C>TCA379145668CDKN1Cn.143-614G>A
c.255+454G>A (n.255+454G>A)
c.742G>A (p.Gly248Arg)
c.709G>A (p.Gly237Arg)
ClinVar dbSNP gnomAD v4
11g.2884749C>ACA472483380CDKN1Cn.143-615G>T
c.255+453G>T (n.255+453G>T)
c.741G>T (p.Ser247=)
c.708G>T (p.Ser236=)
ClinVar dbSNP gnomAD v4
11g.2884749C=CA1948368322CDKN1Cn.143-615G=
c.255+453G= (n.255+453G=)
c.741G= (p.Ser247=)
c.708G= (p.Ser236=)
11g.2884749C>GCA472483382CDKN1Cn.143-615G>C
c.255+453G>C (n.255+453G>C)
c.741G>C (p.Ser247=)
c.708G>C (p.Ser236=)
gnomAD v4
11g.2884749C>TCA472483381CDKN1Cn.143-615G>A
c.255+453G>A (n.255+453G>A)
c.741G>A (p.Ser247=)
c.708G>A (p.Ser236=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884750G>ACA16613538CDKN1Cn.143-616C>T
c.255+452C>T (n.255+452C>T)
c.740C>T (p.Ser247Leu)
c.707C>T (p.Ser236Leu)
ClinVar dbSNP gnomAD v4
11g.2884750G>CCA379145669CDKN1Cn.143-616C>G
c.255+452C>G (n.255+452C>G)
c.740C>G (p.Ser247Trp)
c.707C>G (p.Ser236Trp)
11g.2884750G=CA1948368323CDKN1Cn.143-616C=
c.255+452C= (n.255+452C=)
c.740C= (p.Ser247=)
c.707C= (p.Ser236=)
11g.2884750G>TCA254540CDKN1Cn.143-616C>A
c.255+452C>A (n.255+452C>A)
c.740C>A (p.Ser247Ter)
c.707C>A (p.Ser236Ter)
ClinVar dbSNP gnomAD v4
11g.2884751A>CCA379145671CDKN1Cn.143-617T>G
c.255+451T>G (n.255+451T>G)
c.739T>G (p.Ser247Ala)
c.706T>G (p.Ser236Ala)
11g.2884751A>GCA379145672CDKN1Cn.143-617T>C
c.255+451T>C (n.255+451T>C)
c.739T>C (p.Ser247Pro)
c.706T>C (p.Ser236Pro)
gnomAD v4
11g.2884751A>TCA379145670CDKN1Cn.143-617T>A
c.255+451T>A (n.255+451T>A)
c.739T>A (p.Ser247Thr)
c.706T>A (p.Ser236Thr)
11g.2884752A=CA1948368324CDKN1Cn.143-618T=
c.255+450T= (n.255+450T=)
c.738T= (p.Ile246=)
c.705T= (p.Ile235=)
11g.2884752A>CCA379145673CDKN1Cn.143-618T>G
c.255+450T>G (n.255+450T>G)
c.738T>G (p.Ile246Met)
c.705T>G (p.Ile235Met)
dbSNP gnomAD v4
11g.2884752A>GCA472483384CDKN1Cn.143-618T>C
c.255+450T>C (n.255+450T>C)
c.738T>C (p.Ile246=)
c.705T>C (p.Ile235=)
gnomAD v4
11g.2884752A>TCA472483385CDKN1Cn.143-618T>A
c.255+450T>A (n.255+450T>A)
c.738T>A (p.Ile246=)
c.705T>A (p.Ile235=)
11g.2884753A>CCA379145674CDKN1Cn.143-619T>G
c.255+449T>G (n.255+449T>G)
c.737T>G (p.Ile246Ser)
c.704T>G (p.Ile235Ser)
gnomAD v4
11g.2884753A>GCA379145675CDKN1Cn.143-619T>C
c.255+449T>C (n.255+449T>C)
c.737T>C (p.Ile246Thr)
c.704T>C (p.Ile235Thr)
ClinVar gnomAD v4
11g.2884753A>TCA379145676CDKN1Cn.143-619T>A
c.255+449T>A (n.255+449T>A)
c.737T>A (p.Ile246Asn)
c.704T>A (p.Ile235Asn)
11g.2884753_2884767delinsATCCCCGAGTGCAGCCA1948368325CDKN1Cn.143-633_143-619delinsGCTGCACTCGGGGAT
c.255+435_255+449delinsGCTGCACTCGGGGAT (n.255+435_255+449delinsGCTGCACTCGGGGAT)
c.723_737delinsGCTGCACTCGGGGAT (p.Gln241=)
c.690_704delinsGCTGCACTCGGGGAT (p.Gln230=)
11g.2884754T>ACA379145677CDKN1Cn.143-620A>T
c.255+448A>T (n.255+448A>T)
c.736A>T (p.Ile246Phe)
c.703A>T (p.Ile235Phe)
11g.2884754T>CCA379145678CDKN1Cn.143-620A>G
c.255+448A>G (n.255+448A>G)
c.736A>G (p.Ile246Val)
c.703A>G (p.Ile235Val)
ClinVar gnomAD v4
11g.2884754T>GCA379145679CDKN1Cn.143-620A>C
c.255+448A>C (n.255+448A>C)
c.736A>C (p.Ile246Leu)
c.703A>C (p.Ile235Leu)
gnomAD v4
11g.2884755_2884768delCA1948368326CDKN1Cn.143-633_143-620del
c.255+435_255+448del (n.255+435_255+448del)
c.723_736del (p.Gln241HisfsTer?)
c.690_703del (p.Gln230HisfsTer?)
dbSNP
11g.2884755C>ACA472483387CDKN1Cn.143-621G>T
c.255+447G>T (n.255+447G>T)
c.735G>T (p.Gly245=)
c.702G>T (p.Gly234=)
gnomAD v4
11g.2884755C=CA1948368327CDKN1Cn.143-621G=
c.255+447G= (n.255+447G=)
c.735G= (p.Gly245=)
c.702G= (p.Gly234=)
11g.2884755C>GCA472483388CDKN1Cn.143-621G>C
c.255+447G>C (n.255+447G>C)
c.735G>C (p.Gly245=)
c.702G>C (p.Gly234=)
11g.2884755C>TCA5822183CDKN1Cn.143-621G>A
c.255+447G>A (n.255+447G>A)
c.735G>A (p.Gly245=)
c.702G>A (p.Gly234=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2884758delCA2612014398CDKN1Cn.143-621del
c.255+447del (n.255+447del)
c.735del (p.Ile246PhefsTer26)
c.702del (p.Ile235PhefsTer26)
gnomAD v4
11g.2884756C>ACA379145680CDKN1Cn.143-622G>T
c.255+446G>T (n.255+446G>T)
c.734G>T (p.Gly245Val)
c.701G>T (p.Gly234Val)
gnomAD v4
11g.2884756C>GCA379145681CDKN1Cn.143-622G>C
c.255+446G>C (n.255+446G>C)
c.734G>C (p.Gly245Ala)
c.701G>C (p.Gly234Ala)
11g.2884756C>TCA379145682CDKN1Cn.143-622G>A
c.255+446G>A (n.255+446G>A)
c.734G>A (p.Gly245Glu)
c.701G>A (p.Gly234Glu)
gnomAD v4
11g.2884757C>ACA379145683CDKN1Cn.143-623G>T
c.255+445G>T (n.255+445G>T)
c.733G>T (p.Gly245Trp)
c.700G>T (p.Gly234Trp)
gnomAD v4
11g.2884757C=CA1948368328CDKN1Cn.143-623G=
c.255+445G= (n.255+445G=)
c.733G= (p.Gly245=)
c.700G= (p.Gly234=)
11g.2884757C>GCA379145684CDKN1Cn.143-623G>C
c.255+445G>C (n.255+445G>C)
c.733G>C (p.Gly245Arg)
c.700G>C (p.Gly234Arg)
11g.2884757C>TCA16613288CDKN1Cn.143-623G>A
c.255+445G>A (n.255+445G>A)
c.733G>A (p.Gly245Arg)
c.700G>A (p.Gly234Arg)
ClinVar dbSNP gnomAD v4
11g.2884758C>ACA472483392CDKN1Cn.143-624G>T
c.255+444G>T (n.255+444G>T)
c.732G>T (p.Ser244=)
c.699G>T (p.Ser233=)
gnomAD v4
11g.2884758C=CA1948368329CDKN1Cn.143-624G=
c.255+444G= (n.255+444G=)
c.732G= (p.Ser244=)
c.699G= (p.Ser233=)
11g.2884758C>GCA5822184CDKN1Cn.143-624G>C
c.255+444G>C (n.255+444G>C)
c.732G>C (p.Ser244=)
c.699G>C (p.Ser233=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884758C>TCA472483391CDKN1Cn.143-624G>A
c.255+444G>A (n.255+444G>A)
c.732G>A (p.Ser244=)
c.699G>A (p.Ser233=)
gnomAD v4
11g.2884759G>ACA379145685CDKN1Cn.143-625C>T
c.255+443C>T (n.255+443C>T)
c.731C>T (p.Ser244Leu)
c.698C>T (p.Ser233Leu)
gnomAD v4
11g.2884759G>CCA379145686CDKN1Cn.143-625C>G
c.255+443C>G (n.255+443C>G)
c.731C>G (p.Ser244Trp)
c.698C>G (p.Ser233Trp)
11g.2884759G=CA1948368330CDKN1Cn.143-625C=
c.255+443C= (n.255+443C=)
c.731C= (p.Ser244=)
c.698C= (p.Ser233=)
11g.2884759G>TCA216367178CDKN1Cn.143-625C>A
c.255+443C>A (n.255+443C>A)
c.731C>A (p.Ser244Ter)
c.698C>A (p.Ser233Ter)
ClinVar dbSNP gnomAD v4
11g.2884760A>CCA379145687CDKN1Cn.143-626T>G
c.255+442T>G (n.255+442T>G)
c.730T>G (p.Ser244Ala)
c.697T>G (p.Ser233Ala)
11g.2884760A>GCA379145688CDKN1Cn.143-626T>C
c.255+442T>C (n.255+442T>C)
c.730T>C (p.Ser244Pro)
c.697T>C (p.Ser233Pro)
gnomAD v4
11g.2884760A>TCA379145689CDKN1Cn.143-626T>A
c.255+442T>A (n.255+442T>A)
c.730T>A (p.Ser244Thr)
c.697T>A (p.Ser233Thr)
gnomAD v4
11g.2884760_2884761delinsAGCA1948368331CDKN1Cn.143-627_143-626delinsCT
c.255+441_255+442delinsCT (n.255+441_255+442delinsCT)
c.729_730delinsCT (p.His243=)
c.696_697delinsCT (p.His232=)
11g.2884761delCA216367180CDKN1Cn.143-627del
c.255+441del (n.255+441del)
c.729del (p.Ser244ArgfsTer28)
c.696del (p.Ser233ArgfsTer28)
dbSNP
11g.2884761G>ACA472483398CDKN1Cn.143-627C>T
c.255+441C>T (n.255+441C>T)
c.729C>T (p.His243=)
c.696C>T (p.His232=)
gnomAD v4
11g.2884761G>CCA379145690CDKN1Cn.143-627C>G
c.255+441C>G (n.255+441C>G)
c.729C>G (p.His243Gln)
c.696C>G (p.His232Gln)
11g.2884761G>TCA379145691CDKN1Cn.143-627C>A
c.255+441C>A (n.255+441C>A)
c.729C>A (p.His243Gln)
c.696C>A (p.His232Gln)
ClinVar dbSNP gnomAD v4
11g.2884762T>ACA379145692CDKN1Cn.143-628A>T
c.255+440A>T (n.255+440A>T)
c.728A>T (p.His243Leu)
c.695A>T (p.His232Leu)
11g.2884762T>CCA379145693CDKN1Cn.143-628A>G
c.255+440A>G (n.255+440A>G)
c.728A>G (p.His243Arg)
c.695A>G (p.His232Arg)
gnomAD v4
11g.2884762T>GCA379145694CDKN1Cn.143-628A>C
c.255+440A>C (n.255+440A>C)
c.728A>C (p.His243Pro)
c.695A>C (p.His232Pro)
ClinVar
11g.2884763G>ACA379145695CDKN1Cn.143-629C>T
c.255+439C>T (n.255+439C>T)
c.727C>T (p.His243Tyr)
c.694C>T (p.His232Tyr)
gnomAD v4
11g.2884763G>CCA379145696CDKN1Cn.143-629C>G
c.255+439C>G (n.255+439C>G)
c.727C>G (p.His243Asp)
c.694C>G (p.His232Asp)
gnomAD v4
11g.2884763G>TCA379145697CDKN1Cn.143-629C>A
c.255+439C>A (n.255+439C>A)
c.727C>A (p.His243Asn)
c.694C>A (p.His232Asn)
gnomAD v4
11g.2884765_2884767dupCA2790205281CDKN1Cn.143-631_143-629dup
c.255+437_255+439dup (n.255+437_255+439dup)
c.725_727dup (p.Leu242_His243insLeu)
c.692_694dup (p.Leu231_His232insLeu)
11g.2884764delCA2612014400CDKN1Cn.143-630del
c.255+438del (n.255+438del)
c.726del (p.His243ThrfsTer29)
c.693del (p.His232ThrfsTer29)
gnomAD v4
11g.2884764C>ACA472483404CDKN1Cn.143-630G>T
c.255+438G>T (n.255+438G>T)
c.726G>T (p.Leu242=)
c.693G>T (p.Leu231=)
gnomAD v4
11g.2884764C=CA1948368332CDKN1Cn.143-630G=
c.255+438G= (n.255+438G=)
c.726G= (p.Leu242=)
c.693G= (p.Leu231=)
11g.2884764C>GCA472483405CDKN1Cn.143-630G>C
c.255+438G>C (n.255+438G>C)
c.726G>C (p.Leu242=)
c.693G>C (p.Leu231=)
gnomAD v4
11g.2884764C>TCA472483406CDKN1Cn.143-630G>A
c.255+438G>A (n.255+438G>A)
c.726G>A (p.Leu242=)
c.693G>A (p.Leu231=)
dbSNP gnomAD v4
11g.2884764dupCA2695212971CDKN1Cn.143-630dup
c.255+438dup (n.255+438dup)
c.726dup (p.His243AlafsTer?)
c.693dup (p.His232AlafsTer?)
11g.2884765A>CCA379145698CDKN1Cn.143-631T>G
c.255+437T>G (n.255+437T>G)
c.725T>G (p.Leu242Arg)
c.692T>G (p.Leu231Arg)
gnomAD v4
11g.2884765A>GCA379145700CDKN1Cn.143-631T>C
c.255+437T>C (n.255+437T>C)
c.725T>C (p.Leu242Pro)
c.692T>C (p.Leu231Pro)
gnomAD v4
11g.2884765A>TCA379145699CDKN1Cn.143-631T>A
c.255+437T>A (n.255+437T>A)
c.725T>A (p.Leu242Gln)
c.692T>A (p.Leu231Gln)
11g.2884766G>ACA472483407CDKN1Cn.143-632C>T
c.255+436C>T (n.255+436C>T)
c.724C>T (p.Leu242=)
c.691C>T (p.Leu231=)
ClinVar gnomAD v4
11g.2884766G>CCA379145701CDKN1Cn.143-632C>G
c.255+436C>G (n.255+436C>G)
c.724C>G (p.Leu242Val)
c.691C>G (p.Leu231Val)
gnomAD v4
11g.2884766G>TCA379145702CDKN1Cn.143-632C>A
c.255+436C>A (n.255+436C>A)
c.724C>A (p.Leu242Met)
c.691C>A (p.Leu231Met)
gnomAD v4
11g.2884767C>ACA379145703CDKN1Cn.143-633G>T
c.255+435G>T (n.255+435G>T)
c.723G>T (p.Gln241His)
c.690G>T (p.Gln230His)
gnomAD v4
11g.2884767C=CA1948368333CDKN1Cn.143-633G=
c.255+435G= (n.255+435G=)
c.723G= (p.Gln241=)
c.690G= (p.Gln230=)
11g.2884767C>GCA379145704CDKN1Cn.143-633G>C
c.255+435G>C (n.255+435G>C)
c.723G>C (p.Gln241His)
c.690G>C (p.Gln230His)
11g.2884767C>TCA472483412CDKN1Cn.143-633G>A
c.255+435G>A (n.255+435G>A)
c.723G>A (p.Gln241=)
c.690G>A (p.Gln230=)
dbSNP gnomAD v3 gnomAD v4
11g.2884768T>ACA379145705CDKN1Cn.143-634A>T
c.255+434A>T (n.255+434A>T)
c.722A>T (p.Gln241Leu)
c.689A>T (p.Gln230Leu)
11g.2884768T>CCA379145706CDKN1Cn.143-634A>G
c.255+434A>G (n.255+434A>G)
c.722A>G (p.Gln241Arg)
c.689A>G (p.Gln230Arg)
gnomAD v4
11g.2884768T>GCA379145707CDKN1Cn.143-634A>C
c.255+434A>C (n.255+434A>C)
c.722A>C (p.Gln241Pro)
c.689A>C (p.Gln230Pro)
gnomAD v4
11g.2884769G>ACA216367184CDKN1Cn.143-635C>T
c.255+433C>T (n.255+433C>T)
c.721C>T (p.Gln241Ter)
c.688C>T (p.Gln230Ter)
ClinVar dbSNP gnomAD v4
11g.2884769G>CCA379145708CDKN1Cn.143-635C>G
c.255+433C>G (n.255+433C>G)
c.721C>G (p.Gln241Glu)
c.688C>G (p.Gln230Glu)
11g.2884769G=CA1948368334CDKN1Cn.143-635C=
c.255+433C= (n.255+433C=)
c.721C= (p.Gln241=)
c.688C= (p.Gln230=)
11g.2884769G>TCA379145710CDKN1Cn.143-635C>A
c.255+433C>A (n.255+433C>A)
c.721C>A (p.Gln241Lys)
c.688C>A (p.Gln230Lys)
gnomAD v4
11g.2884770G>ACA472483414CDKN1Cn.143-636C>T
c.255+432C>T (n.255+432C>T)
c.720C>T (p.Asp240=)
c.687C>T (p.Asp229=)
dbSNP gnomAD v4
11g.2884770G>CCA379145711CDKN1Cn.143-636C>G
c.255+432C>G (n.255+432C>G)
c.720C>G (p.Asp240Glu)
c.687C>G (p.Asp229Glu)
ClinVar dbSNP gnomAD v4
11g.2884770G>TCA379145712CDKN1Cn.143-636C>A
c.255+432C>A (n.255+432C>A)
c.720C>A (p.Asp240Glu)
c.687C>A (p.Asp229Glu)
gnomAD v4
11g.2884771T>ACA379145719CDKN1Cn.143-637A>T
c.255+431A>T (n.255+431A>T)
c.719A>T (p.Asp240Val)
c.686A>T (p.Asp229Val)
11g.2884771T>CCA379145717CDKN1Cn.143-637A>G
c.255+431A>G (n.255+431A>G)
c.719A>G (p.Asp240Gly)
c.686A>G (p.Asp229Gly)
gnomAD v4
11g.2884771T>GCA379145714CDKN1Cn.143-637A>C
c.255+431A>C (n.255+431A>C)
c.719A>C (p.Asp240Ala)
c.686A>C (p.Asp229Ala)
11g.2884772C>ACA379145726CDKN1Cn.143-638G>T
c.255+430G>T (n.255+430G>T)
c.718G>T (p.Asp240Tyr)
c.685G>T (p.Asp229Tyr)
gnomAD v4
11g.2884772C>GCA379145728CDKN1Cn.143-638G>C
c.255+430G>C (n.255+430G>C)
c.718G>C (p.Asp240His)
c.685G>C (p.Asp229His)
gnomAD v4
11g.2884772C>TCA379145730CDKN1Cn.143-638G>A
c.255+430G>A (n.255+430G>A)
c.718G>A (p.Asp240Asn)
c.685G>A (p.Asp229Asn)
ClinVar gnomAD v4
11g.2884773A=CA1948368335CDKN1Cn.143-639T=
c.255+429T= (n.255+429T=)
c.717T= (p.Ala239=)
c.684T= (p.Ala228=)
11g.2884773A>CCA472483419CDKN1Cn.143-639T>G
c.255+429T>G (n.255+429T>G)
c.717T>G (p.Ala239=)
c.684T>G (p.Ala228=)
11g.2884773A>GCA5822185CDKN1Cn.143-639T>C
c.255+429T>C (n.255+429T>C)
c.717T>C (p.Ala239=)
c.684T>C (p.Ala228=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2884773A>TCA472483422CDKN1Cn.143-639T>A
c.255+429T>A (n.255+429T>A)
c.717T>A (p.Ala239=)
c.684T>A (p.Ala228=)
11g.2884774G>ACA379145735CDKN1Cn.143-640C>T
c.255+428C>T (n.255+428C>T)
c.716C>T (p.Ala239Val)
c.683C>T (p.Ala228Val)
gnomAD v4
11g.2884774G>CCA379145737CDKN1Cn.143-640C>G
c.255+428C>G (n.255+428C>G)
c.716C>G (p.Ala239Gly)
c.683C>G (p.Ala228Gly)
11g.2884774G>TCA379145739CDKN1Cn.143-640C>A
c.255+428C>A (n.255+428C>A)
c.716C>A (p.Ala239Asp)
c.683C>A (p.Ala228Asp)
gnomAD v4
11g.2884775C>ACA5822186CDKN1Cn.143-641G>T
c.255+427G>T (n.255+427G>T)
c.715G>T (p.Ala239Ser)
c.682G>T (p.Ala228Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2884775C=CA1948368336CDKN1Cn.143-641G=
c.255+427G= (n.255+427G=)
c.715G= (p.Ala239=)
c.682G= (p.Ala228=)
11g.2884775C>GCA379145742CDKN1Cn.143-641G>C
c.255+427G>C (n.255+427G>C)
c.715G>C (p.Ala239Pro)
c.682G>C (p.Ala228Pro)
ClinVar dbSNP gnomAD v4
11g.2884775C>TCA379145744CDKN1Cn.143-641G>A
c.255+427G>A (n.255+427G>A)
c.715G>A (p.Ala239Thr)
c.682G>A (p.Ala228Thr)
gnomAD v4
11g.2884776G>ACA472483423CDKN1Cn.143-642C>T
c.255+426C>T (n.255+426C>T)
c.714C>T (p.Leu238=)
c.681C>T (p.Leu227=)
ClinVar dbSNP gnomAD v4
11g.2884776G>CCA472483424CDKN1Cn.143-642C>G
c.255+426C>G (n.255+426C>G)
c.714C>G (p.Leu238=)
c.681C>G (p.Leu227=)
ClinVar dbSNP gnomAD v4
11g.2884776G=CA1948368337CDKN1Cn.143-642C=
c.255+426C= (n.255+426C=)
c.714C= (p.Leu238=)
c.681C= (p.Leu227=)
11g.2884776G>TCA472483426CDKN1Cn.143-642C>A
c.255+426C>A (n.255+426C>A)
c.714C>A (p.Leu238=)
c.681C>A (p.Leu227=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884777A>CCA379145746CDKN1Cn.143-643T>G
c.255+425T>G (n.255+425T>G)
c.713T>G (p.Leu238Arg)
c.680T>G (p.Leu227Arg)
11g.2884777A>GCA379145747CDKN1Cn.143-643T>C
c.255+425T>C (n.255+425T>C)
c.713T>C (p.Leu238Pro)
c.680T>C (p.Leu227Pro)
ClinVar gnomAD v4
11g.2884777A>TCA379145748CDKN1Cn.143-643T>A
c.255+425T>A (n.255+425T>A)
c.713T>A (p.Leu238His)
c.680T>A (p.Leu227His)
11g.2884778G>ACA10582890CDKN1Cn.143-644C>T
c.255+424C>T (n.255+424C>T)
c.712C>T (p.Leu238Phe)
c.679C>T (p.Leu227Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884778G>CCA379145754CDKN1Cn.143-644C>G
c.255+424C>G (n.255+424C>G)
c.712C>G (p.Leu238Val)
c.679C>G (p.Leu227Val)
11g.2884778G=CA1948368338CDKN1Cn.143-644C=
c.255+424C= (n.255+424C=)
c.712C= (p.Leu238=)
c.679C= (p.Leu227=)
11g.2884778G>TCA379145752CDKN1Cn.143-644C>A
c.255+424C>A (n.255+424C>A)
c.712C>A (p.Leu238Ile)
c.679C>A (p.Leu227Ile)
gnomAD v4
11g.2884779A>CCA472483428CDKN1Cn.143-645T>G
c.255+423T>G (n.255+423T>G)
c.711T>G (p.Pro237=)
c.678T>G (p.Pro226=)
11g.2884779A>GCA472483431CDKN1Cn.143-645T>C
c.255+423T>C (n.255+423T>C)
c.711T>C (p.Pro237=)
c.678T>C (p.Pro226=)
gnomAD v4
11g.2884779A>TCA472483430CDKN1Cn.143-645T>A
c.255+423T>A (n.255+423T>A)
c.711T>A (p.Pro237=)
c.678T>A (p.Pro226=)
11g.2884780G>ACA379145760CDKN1Cn.143-646C>T
c.255+422C>T (n.255+422C>T)
c.710C>T (p.Pro237Leu)
c.677C>T (p.Pro226Leu)
ClinVar dbSNP gnomAD v4
11g.2884780G>CCA379145758CDKN1Cn.143-646C>G
c.255+422C>G (n.255+422C>G)
c.710C>G (p.Pro237Arg)
c.677C>G (p.Pro226Arg)
ClinVar dbSNP
11g.2884780G=CA1948368339CDKN1Cn.143-646C=
c.255+422C= (n.255+422C=)
c.710C= (p.Pro237=)
c.677C= (p.Pro226=)
11g.2884780G>TCA379145763CDKN1Cn.143-646C>A
c.255+422C>A (n.255+422C>A)
c.710C>A (p.Pro237His)
c.677C>A (p.Pro226His)
gnomAD v4
11g.2884781G>ACA379145765CDKN1Cn.143-647C>T
c.255+421C>T (n.255+421C>T)
c.709C>T (p.Pro237Ser)
c.676C>T (p.Pro226Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884781G>CCA379145770CDKN1Cn.143-647C>G
c.255+421C>G (n.255+421C>G)
c.709C>G (p.Pro237Ala)
c.676C>G (p.Pro226Ala)
gnomAD v4
11g.2884781G=CA1948368340CDKN1Cn.143-647C=
c.255+421C= (n.255+421C=)
c.709C= (p.Pro237=)
c.676C= (p.Pro226=)
11g.2884781G>TCA379145767CDKN1Cn.143-647C>A
c.255+421C>A (n.255+421C>A)
c.709C>A (p.Pro237Thr)
c.676C>A (p.Pro226Thr)
gnomAD v4
11g.2884782C>ACA379145773CDKN1Cn.143-648G>T
c.255+420G>T (n.255+420G>T)
c.708G>T (p.Glu236Asp)
c.675G>T (p.Glu225Asp)
gnomAD v4
11g.2884782C=CA1948368341CDKN1Cn.143-648G=
c.255+420G= (n.255+420G=)
c.708G= (p.Glu236=)
c.675G= (p.Glu225=)
11g.2884782C>GCA379145776CDKN1Cn.143-648G>C
c.255+420G>C (n.255+420G>C)
c.708G>C (p.Glu236Asp)
c.675G>C (p.Glu225Asp)
11g.2884782C>TCA171665CDKN1Cn.143-648G>A
c.255+420G>A (n.255+420G>A)
c.708G>A (p.Glu236=)
c.675G>A (p.Glu225=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884783T>ACA379145777CDKN1Cn.143-649A>T
c.255+419A>T (n.255+419A>T)
c.707A>T (p.Glu236Val)
c.674A>T (p.Glu225Val)
gnomAD v4
11g.2884783T>CCA379145779CDKN1Cn.143-649A>G
c.255+419A>G (n.255+419A>G)
c.707A>G (p.Glu236Gly)
c.674A>G (p.Glu225Gly)
ClinVar dbSNP gnomAD v4
11g.2884783T>GCA379145781CDKN1Cn.143-649A>C
c.255+419A>C (n.255+419A>C)
c.707A>C (p.Glu236Ala)
c.674A>C (p.Glu225Ala)
11g.2884783_2884784delinsTCCA1948368342CDKN1Cn.143-650_143-649delinsGA
c.255+418_255+419delinsGA (n.255+418_255+419delinsGA)
c.706_707delinsGA (p.Glu236=)
c.673_674delinsGA (p.Glu225=)
11g.2884784C>ACA379145783CDKN1Cn.143-650G>T
c.255+418G>T (n.255+418G>T)
c.706G>T (p.Glu236Ter)
c.673G>T (p.Glu225Ter)
ClinVar dbSNP gnomAD v4
11g.2884784C=CA1948368343CDKN1Cn.143-650G=
c.255+418G= (n.255+418G=)
c.706G= (p.Glu236=)
c.673G= (p.Glu225=)
11g.2884784C>GCA379145786CDKN1Cn.143-650G>C
c.255+418G>C (n.255+418G>C)
c.706G>C (p.Glu236Gln)
c.673G>C (p.Glu225Gln)
gnomAD v4
11g.2884784C>TCA379145789CDKN1Cn.143-650G>A
c.255+418G>A (n.255+418G>A)
c.706G>A (p.Glu236Lys)
c.673G>A (p.Glu225Lys)
11g.2884785delCA216367197CDKN1Cn.143-650del
c.255+418del (n.255+418del)
c.706del (p.Glu236SerfsTer?)
c.673del (p.Glu225SerfsTer?)
dbSNP
11g.2884785C>ACA379145794CDKN1Cn.143-651G>T
c.255+417G>T (n.255+417G>T)
c.705G>T (p.Gln235His)
c.672G>T (p.Gln224His)
gnomAD v4
11g.2884785C>GCA379145796CDKN1Cn.143-651G>C
c.255+417G>C (n.255+417G>C)
c.705G>C (p.Gln235His)
c.672G>C (p.Gln224His)
11g.2884785C>TCA472483434CDKN1Cn.143-651G>A
c.255+417G>A (n.255+417G>A)
c.705G>A (p.Gln235=)
c.672G>A (p.Gln224=)
gnomAD v4
11g.2884786T>ACA379145802CDKN1Cn.143-652A>T
c.255+416A>T (n.255+416A>T)
c.704A>T (p.Gln235Leu)
c.671A>T (p.Gln224Leu)
11g.2884786T>CCA379145799CDKN1Cn.143-652A>G
c.255+416A>G (n.255+416A>G)
c.704A>G (p.Gln235Arg)
c.671A>G (p.Gln224Arg)
ClinVar gnomAD v4
11g.2884786T>GCA379145798CDKN1Cn.143-652A>C
c.255+416A>C (n.255+416A>C)
c.704A>C (p.Gln235Pro)
c.671A>C (p.Gln224Pro)
11g.2884787G>ACA216367198CDKN1Cn.143-653C>T
c.255+415C>T (n.255+415C>T)
c.703C>T (p.Gln235Ter)
c.670C>T (p.Gln224Ter)
ClinVar dbSNP gnomAD v4
11g.2884787G>CCA379145805CDKN1Cn.143-653C>G
c.255+415C>G (n.255+415C>G)
c.703C>G (p.Gln235Glu)
c.670C>G (p.Gln224Glu)
11g.2884787G=CA1948368344CDKN1Cn.143-653C=
c.255+415C= (n.255+415C=)
c.703C= (p.Gln235=)
c.670C= (p.Gln224=)
11g.2884787G>TCA379145810CDKN1Cn.143-653C>A
c.255+415C>A (n.255+415C>A)
c.703C>A (p.Gln235Lys)
c.670C>A (p.Gln224Lys)
gnomAD v4
11g.2884788delCA2612014404CDKN1Cn.143-653del
c.255+415del (n.255+415del)
c.703del (p.Gln235ArgfsTer?)
c.670del (p.Gln224ArgfsTer?)
gnomAD v4
11g.2884788G>ACA472483436CDKN1Cn.143-654C>T
c.255+414C>T (n.255+414C>T)
c.702C>T (p.Gly234=)
c.669C>T (p.Gly223=)
ClinVar dbSNP gnomAD v4
11g.2884788G>CCA5822187CDKN1Cn.143-654C>G
c.255+414C>G (n.255+414C>G)
c.702C>G (p.Gly234=)
c.669C>G (p.Gly223=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884788G=CA1948368345CDKN1Cn.143-654C=
c.255+414C= (n.255+414C=)
c.702C= (p.Gly234=)
c.669C= (p.Gly223=)
11g.2884788G>TCA472483437CDKN1Cn.143-654C>A
c.255+414C>A (n.255+414C>A)
c.702C>A (p.Gly234=)
c.669C>A (p.Gly223=)
gnomAD v4
11g.2884789C>ACA379145812CDKN1Cn.143-655G>T
c.255+413G>T (n.255+413G>T)
c.701G>T (p.Gly234Val)
c.668G>T (p.Gly223Val)
ClinVar dbSNP gnomAD v4
11g.2884789C=CA1948368346CDKN1Cn.143-655G=
c.255+413G= (n.255+413G=)
c.701G= (p.Gly234=)
c.668G= (p.Gly223=)
11g.2884789C>GCA379145815CDKN1Cn.143-655G>C
c.255+413G>C (n.255+413G>C)
c.701G>C (p.Gly234Ala)
c.668G>C (p.Gly223Ala)
gnomAD v4
11g.2884789C>TCA379145816CDKN1Cn.143-655G>A
c.255+413G>A (n.255+413G>A)
c.701G>A (p.Gly234Asp)
c.668G>A (p.Gly223Asp)
ClinVar dbSNP 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

Number of alleles fetched