Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.34876207_34881076delCA1139533046RUNX1c.352-363_508+4350del
c.271-363_427+4350del
c.316-363_472+4350del
c.59-363_*98+4350del
c.313-363_469+4350del
n.531-363_687+4350del
c.199-363_355+4350del
n.578-363_734+4350del
21g.34880554_34880569dupCA2573130364RUNX1c.498_508+5dup
c.417_427+5dup
c.462_472+5dup
c.*88_*98+5dup
c.459_469+5dup
n.677_687+5dup
c.345_355+5dup
n.724_734+5dup
21g.34880554_34880573dupCA658824415RUNX1c.494_508+5dup
c.413_427+5dup
c.458_472+5dup
c.*84_*98+5dup
c.455_469+5dup
n.673_687+5dup
c.341_355+5dup
n.720_734+5dup
ClinVar dbSNP
21g.34880553_34880609dupCA658824416RUNX1c.457_508+5dup
c.376_427+5dup
c.421_472+5dup
c.*47_*98+5dup
c.418_469+5dup
n.636_687+5dup
c.304_355+5dup
n.683_734+5dup
ClinVar dbSNP
21g.34880558_34880572delCA2695202535RUNX1c.496_508+2del
c.415_427+2del
c.460_472+2del
c.*86_*98+2del
c.457_469+2del
n.675_687+2del
c.343_355+2del
n.722_734+2del
21g.34880563_34880568delCA645607318RUNX1c.501_506del (p.Ser167_Gly168del)
c.420_425del (p.Ser140_Gly141del)
c.465_470del (p.Ser155_Gly156del)
c.*91_*96del (n.*91_*96del)
c.462_467del (p.Ser154_Gly155del)
n.680_685del
c.348_353del (p.Ser116_Gly117del)
n.727_732del
COSMIC
21g.34880561_34880568dupCA645607322RUNX1c.497_504dup (p.Arg169GlufsTer10)
c.416_423dup (p.Arg142GlufsTer10)
c.461_468dup (p.Arg157GlufsTer10)
c.*87_*94dup (n.*87_*94dup)
c.458_465dup (p.Arg156GlufsTer10)
n.676_683dup
c.344_351dup (p.Arg118GlufsTer10)
n.723_730dup
COSMIC
21g.34880570_34880571insGGAAAGCCACTTCGACA645607323RUNX1c.503_504insCTTTCCTCGAAGTGG (p.Gly168_Arg169insPheProArgSerGly)
c.422_423insCTTTCCTCGAAGTGG (p.Gly141_Arg142insPheProArgSerGly)
c.467_468insCTTTCCTCGAAGTGG (p.Gly156_Arg157insPheProArgSerGly)
c.*93_*94insCTTTCCTCGAAGTGG (n.*93_*94insCTTTCCTCGAAGTGG)
c.464_465insCTTTCCTCGAAGTGG (p.Gly155_Arg156insPheProArgSerGly)
n.682_683insCTTTCCTCGAAGTGG
c.350_351insCTTTCCTCGAAGTGG (p.Gly117_Arg118insPheProArgSerGly)
n.729_730insCTTTCCTCGAAGTGG
COSMIC COSMIC
21g.34880564_34880572dupCA645607324RUNX1c.495_503dup (p.Gly168_Arg169insArgSerGly)
c.414_422dup (p.Gly141_Arg142insArgSerGly)
c.459_467dup (p.Gly156_Arg157insArgSerGly)
c.*85_*93dup (n.*85_*93dup)
c.456_464dup (p.Gly155_Arg156insArgSerGly)
n.674_682dup
c.342_350dup (p.Gly117_Arg118insArgSerGly)
n.721_729dup
COSMIC
21g.34880568C>ACA410202488RUNX1c.497G>T (p.Arg166Leu)
c.416G>T (p.Arg139Leu)
c.461G>T (p.Arg154Leu)
c.*87G>T (n.*87G>T)
c.458G>T (p.Arg153Leu)
n.676G>T
c.344G>T (p.Arg115Leu)
n.723G>T
dbSNP COSMIC
21g.34880568C=CA2387294312RUNX1c.497G= (p.Arg166=)
c.416G= (p.Arg139=)
c.461G= (p.Arg154=)
c.*87G= (n.*87G=)
c.458G= (p.Arg153=)
n.676G=
c.344G= (p.Arg115=)
n.723G=
21g.34880568C>GCA410202489RUNX1c.497G>C (p.Arg166Pro)
c.416G>C (p.Arg139Pro)
c.461G>C (p.Arg154Pro)
c.*87G>C (n.*87G>C)
c.458G>C (p.Arg153Pro)
n.676G>C
c.344G>C (p.Arg115Pro)
n.723G>C
dbSNP COSMIC
21g.34880568C>TCA16616941RUNX1c.497G>A (p.Arg166Gln)
c.416G>A (p.Arg139Gln)
c.461G>A (p.Arg154Gln)
c.*87G>A (n.*87G>A)
c.458G>A (p.Arg153Gln)
n.676G>A
c.344G>A (p.Arg115Gln)
n.723G>A
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
21g.34880568_34880569insCTCCCA645607329RUNX1c.497_498insGAGG (p.Ser167ArgfsTer?)
c.416_417insGAGG (p.Ser140ArgfsTer?)
c.461_462insGAGG (p.Ser155ArgfsTer?)
c.*87_*88insGAGG (n.*87_*88insGAGG)
c.458_459insGAGG (p.Ser154ArgfsTer?)
n.676_677insGAGG
c.344_345insGAGG (p.Ser116ArgfsTer?)
n.723_724insGAGG
COSMIC COSMIC
21g.34880568_34880569insTATTGGACCCA645607330RUNX1c.497_498insGTCCAATAG (p.Arg166_Ser167insSerAsnArg)
c.416_417insGTCCAATAG (p.Arg139_Ser140insSerAsnArg)
c.461_462insGTCCAATAG (p.Arg154_Ser155insSerAsnArg)
c.*87_*88insGTCCAATAG (n.*87_*88insGTCCAATAG)
c.458_459insGTCCAATAG (p.Arg153_Ser154insSerAsnArg)
n.676_677insGTCCAATAG
c.344_345insGTCCAATAG (p.Arg115_Ser116insSerAsnArg)
n.723_724insGTCCAATAG
COSMIC
21g.34880569_34880570insTTGAACGCA645607328RUNX1c.497_498insTTCAACG (p.Gly168ThrfsTer?)
c.416_417insTTCAACG (p.Gly141ThrfsTer?)
c.461_462insTTCAACG (p.Gly156ThrfsTer?)
c.*87_*88insTTCAACG (n.*87_*88insTTCAACG)
c.458_459insTTCAACG (p.Gly155ThrfsTer?)
n.676_677insTTCAACG
c.344_345insTTCAACG (p.Gly117ThrfsTer?)
n.723_724insTTCAACG
COSMIC
21g.34880568_34880570delinsGGGGCCGGCA645607332RUNX1c.495_497delinsCCGGCCCC (p.Ser167ProfsTer11)
c.414_416delinsCCGGCCCC (p.Ser140ProfsTer11)
c.459_461delinsCCGGCCCC (p.Ser155ProfsTer11)
c.*85_*87delinsCCGGCCCC (n.*85_*87delinsCCGGCCCC)
c.456_458delinsCCGGCCCC (p.Ser154ProfsTer11)
n.674_676delinsCCGGCCCC
c.342_344delinsCCGGCCCC (p.Ser116ProfsTer11)
n.721_723delinsCCGGCCCC
COSMIC COSMIC
21g.34880572_34880575dupCA645607333RUNX1c.494_497dup (p.Gly168LysfsTer?)
c.413_416dup (p.Gly141LysfsTer?)
c.458_461dup (p.Gly156LysfsTer?)
c.*84_*87dup (n.*84_*87dup)
c.455_458dup (p.Gly155LysfsTer?)
n.673_676dup
c.341_344dup (p.Gly117LysfsTer?)
n.720_723dup
COSMIC
21g.34880572_34880575delCA2830782556RUNX1c.494_497del (p.Gly165GlufsTer10)
c.413_416del (p.Gly138GlufsTer10)
c.458_461del (p.Gly153GlufsTer10)
c.*84_*87del (n.*84_*87del)
c.455_458del (p.Gly152GlufsTer10)
n.673_676del
c.341_344del (p.Gly114GlufsTer10)
n.720_723del
21g.34880569G>ACA410202490RUNX1c.496C>T (p.Arg166Ter)
c.415C>T (p.Arg139Ter)
c.460C>T (p.Arg154Ter)
c.*86C>T (n.*86C>T)
c.457C>T (p.Arg153Ter)
n.675C>T
c.343C>T (p.Arg115Ter)
n.722C>T
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.34880569G>CCA410202491RUNX1c.496C>G (p.Arg166Gly)
c.415C>G (p.Arg139Gly)
c.460C>G (p.Arg154Gly)
c.*86C>G (n.*86C>G)
c.457C>G (p.Arg153Gly)
n.675C>G
c.343C>G (p.Arg115Gly)
n.722C>G
dbSNP COSMIC COSMIC
21g.34880569G=CA2387294313RUNX1c.496C= (p.Arg166=)
c.415C= (p.Arg139=)
c.460C= (p.Arg154=)
c.*86C= (n.*86C=)
c.457C= (p.Arg153=)
n.675C=
c.343C= (p.Arg115=)
n.722C=
21g.34880569G>TCA10014502RUNX1c.496C>A (p.Arg166=)
c.415C>A (p.Arg139=)
c.460C>A (p.Arg154=)
c.*86C>A (n.*86C>A)
c.457C>A (p.Arg153=)
n.675C>A
c.343C>A (p.Arg115=)
n.722C>A
ClinVar dbSNP ExAC gnomAD v4
21g.34880569delinsCCCCTCCA2695202452RUNX1c.496delinsGAGGGG (p.Arg166GlufsTer12)
c.415delinsGAGGGG (p.Arg139GlufsTer12)
c.460delinsGAGGGG (p.Arg154GlufsTer12)
c.*86delinsGAGGGG (n.*86delinsGAGGGG)
c.457delinsGAGGGG (p.Arg153GlufsTer12)
n.675delinsGAGGGG
c.343delinsGAGGGG (p.Arg115GlufsTer12)
n.722delinsGAGGGG
21g.34880570_34880571insGCCCCTGACA645607334RUNX1c.496_497insAGGGGCTC (p.Arg166GlnfsTer13)
c.415_416insAGGGGCTC (p.Arg139GlnfsTer13)
c.460_461insAGGGGCTC (p.Arg154GlnfsTer13)
c.*86_*87insAGGGGCTC (n.*86_*87insAGGGGCTC)
c.457_458insAGGGGCTC (p.Arg153GlnfsTer13)
n.675_676insAGGGGCTC
c.343_344insAGGGGCTC (p.Arg115GlnfsTer13)
n.722_723insAGGGGCTC
COSMIC
21g.34880570A>CCA512318656RUNX1c.495T>G (p.Gly165=)
c.414T>G (p.Gly138=)
c.459T>G (p.Gly153=)
c.*85T>G (n.*85T>G)
c.456T>G (p.Gly152=)
n.674T>G
c.342T>G (p.Gly114=)
n.721T>G
21g.34880570A>GCA512318655RUNX1c.495T>C (p.Gly165=)
c.414T>C (p.Gly138=)
c.459T>C (p.Gly153=)
c.*85T>C (n.*85T>C)
c.456T>C (p.Gly152=)
n.674T>C
c.342T>C (p.Gly114=)
n.721T>C
21g.34880570A>TCA512318654RUNX1c.495T>A (p.Gly165=)
c.414T>A (p.Gly138=)
c.459T>A (p.Gly153=)
c.*85T>A (n.*85T>A)
c.456T>A (p.Gly152=)
n.674T>A
c.342T>A (p.Gly114=)
n.721T>A
dbSNP
21g.34880570_34880571insAACA645607335RUNX1c.495_496insTT (p.Arg166PhefsTer11)
c.414_415insTT (p.Arg139PhefsTer11)
c.459_460insTT (p.Arg154PhefsTer11)
c.*85_*86insTT (n.*85_*86insTT)
c.456_457insTT (p.Arg153PhefsTer11)
n.674_675insTT
c.342_343insTT (p.Arg115PhefsTer11)
n.721_722insTT
COSMIC COSMIC
21g.34880572_34880573insCGGCACCCA645607336RUNX1c.495_496insGCCGGGT (p.Arg166AlafsTer?)
c.414_415insGCCGGGT (p.Arg139AlafsTer?)
c.459_460insGCCGGGT (p.Arg154AlafsTer?)
c.*85_*86insGCCGGGT (n.*85_*86insGCCGGGT)
c.456_457insGCCGGGT (p.Arg153AlafsTer?)
n.674_675insGCCGGGT
c.342_343insGCCGGGT (p.Arg115AlafsTer?)
n.721_722insGCCGGGT
COSMIC
21g.34880571C>ACA410202492RUNX1c.494G>T (p.Gly165Val)
c.413G>T (p.Gly138Val)
c.458G>T (p.Gly153Val)
c.*84G>T (n.*84G>T)
c.455G>T (p.Gly152Val)
n.673G>T
c.341G>T (p.Gly114Val)
n.720G>T
dbSNP COSMIC
21g.34880571C=CA2387294314RUNX1c.494G= (p.Gly165=)
c.413G= (p.Gly138=)
c.458G= (p.Gly153=)
c.*84G= (n.*84G=)
c.455G= (p.Gly152=)
n.673G=
c.341G= (p.Gly114=)
n.720G=
21g.34880571C>GCA410202493RUNX1c.494G>C (p.Gly165Ala)
c.413G>C (p.Gly138Ala)
c.458G>C (p.Gly153Ala)
c.*84G>C (n.*84G>C)
c.455G>C (p.Gly152Ala)
n.673G>C
c.341G>C (p.Gly114Ala)
n.720G>C
dbSNP
21g.34880571C>TCA410202494RUNX1c.494G>A (p.Gly165Asp)
c.413G>A (p.Gly138Asp)
c.458G>A (p.Gly153Asp)
c.*84G>A (n.*84G>A)
c.455G>A (p.Gly152Asp)
n.673G>A
c.341G>A (p.Gly114Asp)
n.720G>A
dbSNP COSMIC
21g.34880572_34880573insCCCGCCCA645607337RUNX1c.494_495insCGGGGG (p.Gly165_Arg166insGlyGly)
c.413_414insCGGGGG (p.Gly138_Arg139insGlyGly)
c.458_459insCGGGGG (p.Gly153_Arg154insGlyGly)
c.*84_*85insCGGGGG (n.*84_*85insCGGGGG)
c.455_456insCGGGGG (p.Gly152_Arg153insGlyGly)
n.673_674insCGGGGG
c.341_342insCGGGGG (p.Gly114_Arg115insGlyGly)
n.720_721insCGGGGG
COSMIC
21g.34880571_34880572insGACACA645607338RUNX1c.493_494insTGTC (p.Gly165ValfsTer?)
c.412_413insTGTC (p.Gly138ValfsTer?)
c.457_458insTGTC (p.Gly153ValfsTer?)
c.*83_*84insTGTC (n.*83_*84insTGTC)
c.454_455insTGTC (p.Gly152ValfsTer?)
n.672_673insTGTC
c.340_341insTGTC (p.Gly114ValfsTer?)
n.719_720insTGTC
COSMIC
21g.34880572C>ACA410202495RUNX1c.493G>T (p.Gly165Cys)
c.412G>T (p.Gly138Cys)
c.457G>T (p.Gly153Cys)
c.*83G>T (n.*83G>T)
c.454G>T (p.Gly152Cys)
n.672G>T
c.340G>T (p.Gly114Cys)
n.719G>T
dbSNP COSMIC COSMIC
21g.34880572C=CA2387294315RUNX1c.493G= (p.Gly165=)
c.412G= (p.Gly138=)
c.457G= (p.Gly153=)
c.*83G= (n.*83G=)
c.454G= (p.Gly152=)
n.672G=
c.340G= (p.Gly114=)
n.719G=
21g.34880572C>GCA410202496RUNX1c.493G>C (p.Gly165Arg)
c.412G>C (p.Gly138Arg)
c.457G>C (p.Gly153Arg)
c.*83G>C (n.*83G>C)
c.454G>C (p.Gly152Arg)
n.672G>C
c.340G>C (p.Gly114Arg)
n.719G>C
dbSNP gnomAD v4 COSMIC
21g.34880572C>TCA320637836RUNX1c.493G>A (p.Gly165Ser)
c.412G>A (p.Gly138Ser)
c.457G>A (p.Gly153Ser)
c.*83G>A (n.*83G>A)
c.454G>A (p.Gly152Ser)
n.672G>A
c.340G>A (p.Gly114Ser)
n.719G>A
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
21g.34880572_34880573insAAAACCA645607340RUNX1c.493_494insTTTTG (p.Gly165ValfsTer13)
c.412_413insTTTTG (p.Gly138ValfsTer13)
c.457_458insTTTTG (p.Gly153ValfsTer13)
c.*83_*84insTTTTG (n.*83_*84insTTTTG)
c.454_455insTTTTG (p.Gly152ValfsTer13)
n.672_673insTTTTG
c.340_341insTTTTG (p.Gly114ValfsTer13)
n.719_720insTTTTG
COSMIC
21g.34880573_34880575dupCA645607339RUNX1c.491_493dup (p.Val164_Gly165insVal)
c.410_412dup (p.Val137_Gly138insVal)
c.455_457dup (p.Val152_Gly153insVal)
c.*81_*83dup (n.*81_*83dup)
c.452_454dup (p.Val151_Gly152insVal)
n.670_672dup
c.338_340dup (p.Val113_Gly114insVal)
n.717_719dup
COSMIC COSMIC
21g.34880572_34880573insTCA645607345RUNX1c.492_493insA (p.Gly165ArgfsTer?)
c.411_412insA (p.Gly138ArgfsTer?)
c.456_457insA (p.Gly153ArgfsTer?)
c.*82_*83insA (n.*82_*83insA)
c.453_454insA (p.Gly152ArgfsTer?)
n.671_672insA
c.339_340insA (p.Gly114ArgfsTer?)
n.718_719insA
COSMIC COSMIC
21g.34880572_34880573insTACA645607344RUNX1c.492_493insTA (p.Gly165Ter)
c.411_412insTA (p.Gly138Ter)
c.456_457insTA (p.Gly153Ter)
c.*82_*83insTA (n.*82_*83insTA)
c.453_454insTA (p.Gly152Ter)
n.671_672insTA
c.339_340insTA (p.Gly114Ter)
n.718_719insTA
COSMIC COSMIC
21g.34880572_34880573insCTACA645607341RUNX1c.492_493insTAG
c.411_412insTAG
c.456_457insTAG
c.*82_*83insTAG (n.*82_*83insTAG)
c.453_454insTAG
n.671_672insTAG
c.339_340insTAG
n.718_719insTAG
COSMIC COSMIC
21g.34880573G>ACA10014503RUNX1c.492C>T (p.Val164=)
c.411C>T (p.Val137=)
c.456C>T (p.Val152=)
c.*82C>T (n.*82C>T)
c.453C>T (p.Val151=)
n.671C>T
c.339C>T (p.Val113=)
n.718C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880573G>CCA10014504RUNX1c.492C>G (p.Val164=)
c.411C>G (p.Val137=)
c.456C>G (p.Val152=)
c.*82C>G (n.*82C>G)
c.453C>G (p.Val151=)
n.671C>G
c.339C>G (p.Val113=)
n.718C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880573G=CA2387294316RUNX1c.492C= (p.Val164=)
c.411C= (p.Val137=)
c.456C= (p.Val152=)
c.*82C= (n.*82C=)
c.453C= (p.Val151=)
n.671C=
c.339C= (p.Val113=)
n.718C=
21g.34880573G>TCA512318661RUNX1c.492C>A (p.Val164=)
c.411C>A (p.Val137=)
c.456C>A (p.Val152=)
c.*82C>A (n.*82C>A)
c.453C>A (p.Val151=)
n.671C>A
c.339C>A (p.Val113=)
n.718C>A
21g.34880573delinsTCCTCA645607342RUNX1c.492delinsAGGA (p.Val164_Gly165insGly)
c.411delinsAGGA (p.Val137_Gly138insGly)
c.456delinsAGGA (p.Val152_Gly153insGly)
c.*82delinsAGGA (n.*82delinsAGGA)
c.453delinsAGGA (p.Val151_Gly152insGly)
n.671delinsAGGA
c.339delinsAGGA (p.Val113_Gly114insGly)
n.718delinsAGGA
COSMIC
21g.34880573_34880574insGCTAGCA645607343RUNX1c.492_493insTAGCC (p.Gly165Ter)
c.411_412insTAGCC (p.Gly138Ter)
c.456_457insTAGCC (p.Gly153Ter)
c.*82_*83insTAGCC (n.*82_*83insTAGCC)
c.453_454insTAGCC (p.Gly152Ter)
n.671_672insTAGCC
c.339_340insTAGCC (p.Gly114Ter)
n.718_719insTAGCC
COSMIC
21g.34880575_34880576insTGGTGACCA916079833RUNX1c.492_493insACCAGTC (p.Gly165ThrfsTer?)
c.411_412insACCAGTC (p.Gly138ThrfsTer?)
c.456_457insACCAGTC (p.Gly153ThrfsTer?)
c.*82_*83insACCAGTC (n.*82_*83insACCAGTC)
c.453_454insACCAGTC (p.Gly152ThrfsTer?)
n.671_672insACCAGTC
c.339_340insACCAGTC (p.Gly114ThrfsTer?)
n.718_719insACCAGTC
21g.34880574A>CCA410202497RUNX1c.491T>G (p.Val164Gly)
c.410T>G (p.Val137Gly)
c.455T>G (p.Val152Gly)
c.*81T>G (n.*81T>G)
c.452T>G (p.Val151Gly)
n.670T>G
c.338T>G (p.Val113Gly)
n.717T>G
21g.34880574A>GCA410202498RUNX1c.491T>C (p.Val164Ala)
c.410T>C (p.Val137Ala)
c.455T>C (p.Val152Ala)
c.*81T>C (n.*81T>C)
c.452T>C (p.Val151Ala)
n.670T>C
c.338T>C (p.Val113Ala)
n.717T>C
COSMIC COSMIC
21g.34880574A>TCA410202499RUNX1c.491T>A (p.Val164Asp)
c.410T>A (p.Val137Asp)
c.455T>A (p.Val152Asp)
c.*81T>A (n.*81T>A)
c.452T>A (p.Val151Asp)
n.670T>A
c.338T>A (p.Val113Asp)
n.717T>A
dbSNP
21g.34880575C>ACA410202501RUNX1c.490G>T (p.Val164Phe)
c.409G>T (p.Val137Phe)
c.454G>T (p.Val152Phe)
c.*80G>T (n.*80G>T)
c.451G>T (p.Val151Phe)
n.669G>T
c.337G>T (p.Val113Phe)
n.716G>T
ClinVar dbSNP COSMIC COSMIC
21g.34880575C=CA2387294317RUNX1c.490G= (p.Val164=)
c.409G= (p.Val137=)
c.454G= (p.Val152=)
c.*80G= (n.*80G=)
c.451G= (p.Val151=)
n.669G=
c.337G= (p.Val113=)
n.716G=
21g.34880575C>GCA410202500RUNX1c.490G>C (p.Val164Leu)
c.409G>C (p.Val137Leu)
c.454G>C (p.Val152Leu)
c.*80G>C (n.*80G>C)
c.451G>C (p.Val151Leu)
n.669G>C
c.337G>C (p.Val113Leu)
n.716G>C
dbSNP
21g.34880575C>TCA10014505RUNX1c.490G>A (p.Val164Ile)
c.409G>A (p.Val137Ile)
c.454G>A (p.Val152Ile)
c.*80G>A (n.*80G>A)
c.451G>A (p.Val151Ile)
n.669G>A
c.337G>A (p.Val113Ile)
n.716G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880575_34880576insCTCA645607347RUNX1c.489_490insAG (p.Val164ArgfsTer13)
c.408_409insAG (p.Val137ArgfsTer13)
c.453_454insAG (p.Val152ArgfsTer13)
c.*79_*80insAG (n.*79_*80insAG)
c.450_451insAG (p.Val151ArgfsTer13)
n.668_669insAG
c.336_337insAG (p.Val113ArgfsTer13)
n.715_716insAG
COSMIC COSMIC
21g.34880576A=CA2387294318RUNX1c.489T= (p.Phe163=)
c.408T= (p.Phe136=)
c.453T= (p.Phe151=)
c.*79T= (n.*79T=)
c.450T= (p.Phe150=)
n.668T=
c.336T= (p.Phe112=)
n.715T=
21g.34880576A>CCA410202502RUNX1c.489T>G (p.Phe163Leu)
c.408T>G (p.Phe136Leu)
c.453T>G (p.Phe151Leu)
c.*79T>G (n.*79T>G)
c.450T>G (p.Phe150Leu)
n.668T>G
c.336T>G (p.Phe112Leu)
n.715T>G
21g.34880576A>GCA10014506RUNX1c.489T>C (p.Phe163=)
c.408T>C (p.Phe136=)
c.453T>C (p.Phe151=)
c.*79T>C (n.*79T>C)
c.450T>C (p.Phe150=)
n.668T>C
c.336T>C (p.Phe112=)
n.715T>C
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880576A>TCA410202503RUNX1c.489T>A (p.Phe163Leu)
c.408T>A (p.Phe136Leu)
c.453T>A (p.Phe151Leu)
c.*79T>A (n.*79T>A)
c.450T>A (p.Phe150Leu)
n.668T>A
c.336T>A (p.Phe112Leu)
n.715T>A
ClinVar dbSNP COSMIC
21g.34880576delinsCTCCA645607346RUNX1c.489delinsGAG (p.Phe163LeufsTer14)
c.408delinsGAG (p.Phe136LeufsTer14)
c.453delinsGAG (p.Phe151LeufsTer14)
c.*79delinsGAG (n.*79delinsGAG)
c.450delinsGAG (p.Phe150LeufsTer14)
n.668delinsGAG
c.336delinsGAG (p.Phe112LeufsTer14)
n.715delinsGAG
COSMIC COSMIC
21g.34880578dupCA2579914604RUNX1c.489dup (p.Val164CysfsTer?)
c.408dup (p.Val137CysfsTer?)
c.453dup (p.Val152CysfsTer?)
c.*79dup (n.*79dup)
c.450dup (p.Val151CysfsTer?)
n.668dup
c.336dup (p.Val113CysfsTer?)
n.715dup
ClinVar
21g.34880577A=CA2387294319RUNX1c.488T= (p.Phe163=)
c.407T= (p.Phe136=)
c.452T= (p.Phe151=)
c.*78T= (n.*78T=)
c.449T= (p.Phe150=)
n.667T=
c.335T= (p.Phe112=)
n.714T=
21g.34880577A>CCA410202504RUNX1c.488T>G (p.Phe163Cys)
c.407T>G (p.Phe136Cys)
c.452T>G (p.Phe151Cys)
c.*78T>G (n.*78T>G)
c.449T>G (p.Phe150Cys)
n.667T>G
c.335T>G (p.Phe112Cys)
n.714T>G
ClinVar dbSNP
21g.34880577A>GCA410202505RUNX1c.488T>C (p.Phe163Ser)
c.407T>C (p.Phe136Ser)
c.452T>C (p.Phe151Ser)
c.*78T>C (n.*78T>C)
c.449T>C (p.Phe150Ser)
n.667T>C
c.335T>C (p.Phe112Ser)
n.714T>C
21g.34880577A>TCA410202506RUNX1c.488T>A (p.Phe163Tyr)
c.407T>A (p.Phe136Tyr)
c.452T>A (p.Phe151Tyr)
c.*78T>A (n.*78T>A)
c.449T>A (p.Phe150Tyr)
n.667T>A
c.335T>A (p.Phe112Tyr)
n.714T>A
dbSNP COSMIC
21g.34880579_34880592delCA645607348RUNX1c.475_488del (p.Asn159CysfsTer?)
c.394_407del (p.Asn132CysfsTer?)
c.439_452del (p.Asn147CysfsTer?)
c.*65_*78del (n.*65_*78del)
c.436_449del (p.Asn146CysfsTer?)
n.654_667del
c.322_335del (p.Asn108CysfsTer?)
n.701_714del
COSMIC
21g.34880578A>CCA410202507RUNX1c.487T>G (p.Phe163Val)
c.406T>G (p.Phe136Val)
c.451T>G (p.Phe151Val)
c.*77T>G (n.*77T>G)
c.448T>G (p.Phe150Val)
n.666T>G
c.334T>G (p.Phe112Val)
n.713T>G
21g.34880578A>GCA410202509RUNX1c.487T>C (p.Phe163Leu)
c.406T>C (p.Phe136Leu)
c.451T>C (p.Phe151Leu)
c.*77T>C (n.*77T>C)
c.448T>C (p.Phe150Leu)
n.666T>C
c.334T>C (p.Phe112Leu)
n.713T>C
21g.34880578A>TCA410202508RUNX1c.487T>A (p.Phe163Ile)
c.406T>A (p.Phe136Ile)
c.451T>A (p.Phe151Ile)
c.*77T>A (n.*77T>A)
c.448T>A (p.Phe150Ile)
n.666T>A
c.334T>A (p.Phe112Ile)
n.713T>A
dbSNP
21g.34880579C>ACA16602488RUNX1c.486G>T (p.Arg162Ser)
c.405G>T (p.Arg135Ser)
c.450G>T (p.Arg150Ser)
c.*76G>T (n.*76G>T)
c.447G>T (p.Arg149Ser)
n.665G>T
c.333G>T (p.Arg111Ser)
n.712G>T
ClinVar dbSNP
21g.34880579C=CA2387294320RUNX1c.486G= (p.Arg162=)
c.405G= (p.Arg135=)
c.450G= (p.Arg150=)
c.*76G= (n.*76G=)
c.447G= (p.Arg149=)
n.665G=
c.333G= (p.Arg111=)
n.712G=
21g.34880579C>GCA16602489RUNX1c.486G>C (p.Arg162Ser)
c.405G>C (p.Arg135Ser)
c.450G>C (p.Arg150Ser)
c.*76G>C (n.*76G>C)
c.447G>C (p.Arg149Ser)
n.665G>C
c.333G>C (p.Arg111Ser)
n.712G>C
ClinVar dbSNP COSMIC COSMIC
21g.34880579C>TCA512318666RUNX1c.486G>A (p.Arg162=)
c.405G>A (p.Arg135=)
c.450G>A (p.Arg150=)
c.*76G>A (n.*76G>A)
c.447G>A (p.Arg149=)
n.665G>A
c.333G>A (p.Arg111=)
n.712G>A
dbSNP gnomAD v4
21g.34880579_34880580insTCA2695230129RUNX1c.485_486insA (p.Phe163ValfsTer?)
c.404_405insA (p.Phe136ValfsTer?)
c.449_450insA (p.Phe151ValfsTer?)
c.*75_*76insA (n.*75_*76insA)
c.446_447insA (p.Phe150ValfsTer?)
n.664_665insA
c.332_333insA (p.Phe112ValfsTer?)
n.711_712insA
21g.34880580C>ACA410202510RUNX1c.485G>T (p.Arg162Met)
c.404G>T (p.Arg135Met)
c.449G>T (p.Arg150Met)
c.*75G>T (n.*75G>T)
c.446G>T (p.Arg149Met)
n.664G>T
c.332G>T (p.Arg111Met)
n.711G>T
21g.34880580C=CA2387294321RUNX1c.485G= (p.Arg162=)
c.404G= (p.Arg135=)
c.449G= (p.Arg150=)
c.*75G= (n.*75G=)
c.446G= (p.Arg149=)
n.664G=
c.332G= (p.Arg111=)
n.711G=
21g.34880580C>GCA410202511RUNX1c.485G>C (p.Arg162Thr)
c.404G>C (p.Arg135Thr)
c.449G>C (p.Arg150Thr)
c.*75G>C (n.*75G>C)
c.446G>C (p.Arg149Thr)
n.664G>C
c.332G>C (p.Arg111Thr)
n.711G>C
dbSNP
21g.34880580C>TCA16602490RUNX1c.485G>A (p.Arg162Lys)
c.404G>A (p.Arg135Lys)
c.449G>A (p.Arg150Lys)
c.*75G>A (n.*75G>A)
c.446G>A (p.Arg149Lys)
n.664G>A
c.332G>A (p.Arg111Lys)
n.711G>A
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
21g.34880580_34880581delinsGCCA916084356RUNX1c.484_485delinsGC (p.Arg162Ala)
c.403_404delinsGC (p.Arg135Ala)
c.448_449delinsGC (p.Arg150Ala)
c.*74_*75delinsGC (n.*74_*75delinsGC)
c.445_446delinsGC (p.Arg149Ala)
n.663_664delinsGC
c.331_332delinsGC (p.Arg111Ala)
n.710_711delinsGC
21g.34880581T>ACA410202512RUNX1c.484A>T (p.Arg162Trp)
c.403A>T (p.Arg135Trp)
c.448A>T (p.Arg150Trp)
c.*74A>T (n.*74A>T)
c.445A>T (p.Arg149Trp)
n.663A>T
c.331A>T (p.Arg111Trp)
n.710A>T
dbSNP
21g.34880581T>CCA16602491RUNX1c.484A>G (p.Arg162Gly)
c.403A>G (p.Arg135Gly)
c.448A>G (p.Arg150Gly)
c.*74A>G (n.*74A>G)
c.445A>G (p.Arg149Gly)
n.663A>G
c.331A>G (p.Arg111Gly)
n.710A>G
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
21g.34880581T>GCA512318667RUNX1c.484A>C (p.Arg162=)
c.403A>C (p.Arg135=)
c.448A>C (p.Arg150=)
c.*74A>C (n.*74A>C)
c.445A>C (p.Arg149=)
n.663A>C
c.331A>C (p.Arg111=)
n.710A>C
21g.34880581T=CA2387294322RUNX1c.484A= (p.Arg162=)
c.403A= (p.Arg135=)
c.448A= (p.Arg150=)
c.*74A= (n.*74A=)
c.445A= (p.Arg149=)
n.663A=
c.331A= (p.Arg111=)
n.710A=
21g.34880582G>ACA512318669RUNX1c.483C>T (p.Leu161=)
c.402C>T (p.Leu134=)
c.447C>T (p.Leu149=)
c.*73C>T (n.*73C>T)
c.444C>T (p.Leu148=)
n.662C>T
c.330C>T (p.Leu110=)
n.709C>T
dbSNP
21g.34880582G>CCA512318670RUNX1c.483C>G (p.Leu161=)
c.402C>G (p.Leu134=)
c.447C>G (p.Leu149=)
c.*73C>G (n.*73C>G)
c.444C>G (p.Leu148=)
n.662C>G
c.330C>G (p.Leu110=)
n.709C>G
dbSNP
21g.34880582G>TCA512318671RUNX1c.483C>A (p.Leu161=)
c.402C>A (p.Leu134=)
c.447C>A (p.Leu149=)
c.*73C>A (n.*73C>A)
c.444C>A (p.Leu148=)
n.662C>A
c.330C>A (p.Leu110=)
n.709C>A
dbSNP
21g.34880583A=CA2387294323RUNX1c.482T= (p.Leu161=)
c.401T= (p.Leu134=)
c.446T= (p.Leu149=)
c.*72T= (n.*72T=)
c.443T= (p.Leu148=)
n.661T=
c.329T= (p.Leu110=)
n.708T=
21g.34880583A>CCA410202513RUNX1c.482T>G (p.Leu161Arg)
c.401T>G (p.Leu134Arg)
c.446T>G (p.Leu149Arg)
c.*72T>G (n.*72T>G)
c.443T>G (p.Leu148Arg)
n.661T>G
c.329T>G (p.Leu110Arg)
n.708T>G
21g.34880583A>GCA410202514RUNX1c.482T>C (p.Leu161Pro)
c.401T>C (p.Leu134Pro)
c.446T>C (p.Leu149Pro)
c.*72T>C (n.*72T>C)
c.443T>C (p.Leu148Pro)
n.661T>C
c.329T>C (p.Leu110Pro)
n.708T>C
ClinVar dbSNP COSMIC COSMIC
21g.34880583A>TCA410202515RUNX1c.482T>A (p.Leu161His)
c.401T>A (p.Leu134His)
c.446T>A (p.Leu149His)
c.*72T>A (n.*72T>A)
c.443T>A (p.Leu148His)
n.661T>A
c.329T>A (p.Leu110His)
n.708T>A
ClinVar dbSNP
21g.34880584G>ACA410202516RUNX1c.481C>T (p.Leu161Phe)
c.400C>T (p.Leu134Phe)
c.445C>T (p.Leu149Phe)
c.*71C>T (n.*71C>T)
c.442C>T (p.Leu148Phe)
n.660C>T
c.328C>T (p.Leu110Phe)
n.707C>T
21g.34880584G>CCA410202518RUNX1c.481C>G (p.Leu161Val)
c.400C>G (p.Leu134Val)
c.445C>G (p.Leu149Val)
c.*71C>G (n.*71C>G)
c.442C>G (p.Leu148Val)
n.660C>G
c.328C>G (p.Leu110Val)
n.707C>G
dbSNP
21g.34880584G>TCA410202517RUNX1c.481C>A (p.Leu161Ile)
c.400C>A (p.Leu134Ile)
c.445C>A (p.Leu149Ile)
c.*71C>A (n.*71C>A)
c.442C>A (p.Leu148Ile)
n.660C>A
c.328C>A (p.Leu110Ile)
n.707C>A
dbSNP
21g.34880584_34880585insTCATTGGCA645607349RUNX1c.481_482insCAATGAC (p.Leu161ProfsTer?)
c.400_401insCAATGAC (p.Leu134ProfsTer?)
c.445_446insCAATGAC (p.Leu149ProfsTer?)
c.*71_*72insCAATGAC (n.*71_*72insCAATGAC)
c.442_443insCAATGAC (p.Leu148ProfsTer?)
n.660_661insCAATGAC
c.328_329insCAATGAC (p.Leu110ProfsTer?)
n.707_708insCAATGAC
COSMIC
21g.34880585dupCA645607350RUNX1c.481dup (p.Leu161ProfsTer?)
c.400dup (p.Leu134ProfsTer?)
c.445dup (p.Leu149ProfsTer?)
c.*71dup (n.*71dup)
c.442dup (p.Leu148ProfsTer?)
n.660dup
c.328dup (p.Leu110ProfsTer?)
n.707dup
COSMIC COSMIC
21g.34880584_34880589delCA2740089985RUNX1c.476_481del (p.Asn159_Leu161delinsIle)
c.395_400del (p.Asn132_Leu134delinsIle)
c.440_445del (p.Asn147_Leu149delinsIle)
c.*66_*71del (n.*66_*71del)
c.437_442del (p.Asn146_Leu148delinsIle)
n.655_660del
c.323_328del (p.Asn108_Leu110delinsIle)
n.702_707del
21g.34880584_34880585insCCA512318676RUNX1c.480_481insG (p.Leu161AlafsTer?)
c.399_400insG (p.Leu134AlafsTer?)
c.444_445insG (p.Leu149AlafsTer?)
c.*70_*71insG (n.*70_*71insG)
c.441_442insG (p.Leu148AlafsTer?)
n.659_660insG
c.327_328insG (p.Leu110AlafsTer?)
n.706_707insG
21g.34880585G>ACA512318677RUNX1c.480C>T (p.Asp160=)
c.399C>T (p.Asp133=)
c.444C>T (p.Asp148=)
c.*70C>T (n.*70C>T)
c.441C>T (p.Asp147=)
n.659C>T
c.327C>T (p.Asp109=)
n.706C>T
ClinVar gnomAD v4
21g.34880585G>CCA410202519RUNX1c.480C>G (p.Asp160Glu)
c.399C>G (p.Asp133Glu)
c.444C>G (p.Asp148Glu)
c.*70C>G (n.*70C>G)
c.441C>G (p.Asp147Glu)
n.659C>G
c.327C>G (p.Asp109Glu)
n.706C>G
dbSNP COSMIC COSMIC
21g.34880585G>TCA410202520RUNX1c.480C>A (p.Asp160Glu)
c.399C>A (p.Asp133Glu)
c.444C>A (p.Asp148Glu)
c.*70C>A (n.*70C>A)
c.441C>A (p.Asp147Glu)
n.659C>A
c.327C>A (p.Asp109Glu)
n.706C>A
dbSNP COSMIC
21g.34880586T>ACA410202521RUNX1c.479A>T (p.Asp160Val)
c.398A>T (p.Asp133Val)
c.443A>T (p.Asp148Val)
c.*69A>T (n.*69A>T)
c.440A>T (p.Asp147Val)
n.658A>T
c.326A>T (p.Asp109Val)
n.705A>T
dbSNP COSMIC
21g.34880586T>CCA410202522RUNX1c.479A>G (p.Asp160Gly)
c.398A>G (p.Asp133Gly)
c.443A>G (p.Asp148Gly)
c.*69A>G (n.*69A>G)
c.440A>G (p.Asp147Gly)
n.658A>G
c.326A>G (p.Asp109Gly)
n.705A>G
ClinVar dbSNP COSMIC COSMIC
21g.34880586T>GCA410202523RUNX1c.479A>C (p.Asp160Ala)
c.398A>C (p.Asp133Ala)
c.443A>C (p.Asp148Ala)
c.*69A>C (n.*69A>C)
c.440A>C (p.Asp147Ala)
n.658A>C
c.326A>C (p.Asp109Ala)
n.705A>C
dbSNP
21g.34880587C>ACA410202524RUNX1c.478G>T (p.Asp160Tyr)
c.397G>T (p.Asp133Tyr)
c.442G>T (p.Asp148Tyr)
c.*68G>T (n.*68G>T)
c.439G>T (p.Asp147Tyr)
n.657G>T
c.325G>T (p.Asp109Tyr)
n.704G>T
COSMIC COSMIC
21g.34880587C>GCA410202525RUNX1c.478G>C (p.Asp160His)
c.397G>C (p.Asp133His)
c.442G>C (p.Asp148His)
c.*68G>C (n.*68G>C)
c.439G>C (p.Asp147His)
n.657G>C
c.325G>C (p.Asp109His)
n.704G>C
dbSNP
21g.34880587C>TCA410202526RUNX1c.478G>A (p.Asp160Asn)
c.397G>A (p.Asp133Asn)
c.442G>A (p.Asp148Asn)
c.*68G>A (n.*68G>A)
c.439G>A (p.Asp147Asn)
n.657G>A
c.325G>A (p.Asp109Asn)
n.704G>A
dbSNP
21g.34880588A>CCA410202527RUNX1c.477T>G (p.Asn159Lys)
c.396T>G (p.Asn132Lys)
c.441T>G (p.Asn147Lys)
c.*67T>G (n.*67T>G)
c.438T>G (p.Asn146Lys)
n.656T>G
c.324T>G (p.Asn108Lys)
n.703T>G
21g.34880588A>GCA512318679RUNX1c.477T>C (p.Asn159=)
c.396T>C (p.Asn132=)
c.441T>C (p.Asn147=)
c.*67T>C (n.*67T>C)
c.438T>C (p.Asn146=)
n.656T>C
c.324T>C (p.Asn108=)
n.703T>C
gnomAD v4
21g.34880588A>TCA410202528RUNX1c.477T>A (p.Asn159Lys)
c.396T>A (p.Asn132Lys)
c.441T>A (p.Asn147Lys)
c.*67T>A (n.*67T>A)
c.438T>A (p.Asn146Lys)
n.656T>A
c.324T>A (p.Asn108Lys)
n.703T>A
dbSNP
21g.34880589T>ACA410202529RUNX1c.476A>T (p.Asn159Ile)
c.395A>T (p.Asn132Ile)
c.440A>T (p.Asn147Ile)
c.*66A>T (n.*66A>T)
c.437A>T (p.Asn146Ile)
n.655A>T
c.323A>T (p.Asn108Ile)
n.702A>T
dbSNP
21g.34880589T>CCA410202530RUNX1c.476A>G (p.Asn159Ser)
c.395A>G (p.Asn132Ser)
c.440A>G (p.Asn147Ser)
c.*66A>G (n.*66A>G)
c.437A>G (p.Asn146Ser)
n.655A>G
c.323A>G (p.Asn108Ser)
n.702A>G
21g.34880589T>GCA410202531RUNX1c.476A>C (p.Asn159Thr)
c.395A>C (p.Asn132Thr)
c.440A>C (p.Asn147Thr)
c.*66A>C (n.*66A>C)
c.437A>C (p.Asn146Thr)
n.655A>C
c.323A>C (p.Asn108Thr)
n.702A>C
dbSNP
21g.34880590T>ACA410202532RUNX1c.475A>T (p.Asn159Tyr)
c.394A>T (p.Asn132Tyr)
c.439A>T (p.Asn147Tyr)
c.*65A>T (n.*65A>T)
c.436A>T (p.Asn146Tyr)
n.654A>T
c.322A>T (p.Asn108Tyr)
n.701A>T
dbSNP
21g.34880590T>CCA410202533RUNX1c.475A>G (p.Asn159Asp)
c.394A>G (p.Asn132Asp)
c.439A>G (p.Asn147Asp)
c.*65A>G (n.*65A>G)
c.436A>G (p.Asn146Asp)
n.654A>G
c.322A>G (p.Asn108Asp)
n.701A>G
ClinVar dbSNP gnomAD v4
21g.34880590T>GCA410202534RUNX1c.475A>C (p.Asn159His)
c.394A>C (p.Asn132His)
c.439A>C (p.Asn147His)
c.*65A>C (n.*65A>C)
c.436A>C (p.Asn146His)
n.654A>C
c.322A>C (p.Asn108His)
n.701A>C
21g.34880590T=CA2387294324RUNX1c.475A= (p.Asn159=)
c.394A= (p.Asn132=)
c.439A= (p.Asn147=)
c.*65A= (n.*65A=)
c.436A= (p.Asn146=)
n.654A=
c.322A= (p.Asn108=)
n.701A=
21g.34880591A>CCA410202535RUNX1c.474T>G (p.Phe158Leu)
c.393T>G (p.Phe131Leu)
c.438T>G (p.Phe146Leu)
c.*64T>G (n.*64T>G)
c.435T>G (p.Phe145Leu)
n.653T>G
c.321T>G (p.Phe107Leu)
n.700T>G
21g.34880591A>GCA512318682RUNX1c.474T>C (p.Phe158=)
c.393T>C (p.Phe131=)
c.438T>C (p.Phe146=)
c.*64T>C (n.*64T>C)
c.435T>C (p.Phe145=)
n.653T>C
c.321T>C (p.Phe107=)
n.700T>C
ClinVar gnomAD v4
21g.34880591A>TCA410202536RUNX1c.474T>A (p.Phe158Leu)
c.393T>A (p.Phe131Leu)
c.438T>A (p.Phe146Leu)
c.*64T>A (n.*64T>A)
c.435T>A (p.Phe145Leu)
n.653T>A
c.321T>A (p.Phe107Leu)
n.700T>A
dbSNP
21g.34880593dupCA645607351RUNX1c.474dup (p.Asn159Ter)
c.393dup (p.Asn132Ter)
c.438dup (p.Asn147Ter)
c.*64dup (n.*64dup)
c.435dup (p.Asn146Ter)
n.653dup
c.321dup (p.Asn108Ter)
n.700dup
COSMIC
21g.34880593delCA512318681RUNX1c.474del (p.Phe158LeufsTer18)
c.393del (p.Phe131LeufsTer18)
c.438del (p.Phe146LeufsTer18)
c.*64del (n.*64del)
c.435del (p.Phe145LeufsTer18)
n.653del
c.321del (p.Phe107LeufsTer18)
n.700del
COSMIC COSMIC
21g.34880592A>CCA410202537RUNX1c.473T>G (p.Phe158Cys)
c.392T>G (p.Phe131Cys)
c.437T>G (p.Phe146Cys)
c.*63T>G (n.*63T>G)
c.434T>G (p.Phe145Cys)
n.652T>G
c.320T>G (p.Phe107Cys)
n.699T>G
dbSNP
21g.34880592A>GCA410202538RUNX1c.473T>C (p.Phe158Ser)
c.392T>C (p.Phe131Ser)
c.437T>C (p.Phe146Ser)
c.*63T>C (n.*63T>C)
c.434T>C (p.Phe145Ser)
n.652T>C
c.320T>C (p.Phe107Ser)
n.699T>C
21g.34880592A>TCA410202539RUNX1c.473T>A (p.Phe158Tyr)
c.392T>A (p.Phe131Tyr)
c.437T>A (p.Phe146Tyr)
c.*63T>A (n.*63T>A)
c.434T>A (p.Phe145Tyr)
n.652T>A
c.320T>A (p.Phe107Tyr)
n.699T>A
dbSNP
21g.34880593A>CCA410202540RUNX1c.472T>G (p.Phe158Val)
c.391T>G (p.Phe131Val)
c.436T>G (p.Phe146Val)
c.*62T>G (n.*62T>G)
c.433T>G (p.Phe145Val)
n.651T>G
c.319T>G (p.Phe107Val)
n.698T>G
COSMIC
21g.34880593A>GCA410202541RUNX1c.472T>C (p.Phe158Leu)
c.391T>C (p.Phe131Leu)
c.436T>C (p.Phe146Leu)
c.*62T>C (n.*62T>C)
c.433T>C (p.Phe145Leu)
n.651T>C
c.319T>C (p.Phe107Leu)
n.698T>C
21g.34880593A>TCA410202542RUNX1c.472T>A (p.Phe158Ile)
c.391T>A (p.Phe131Ile)
c.436T>A (p.Phe146Ile)
c.*62T>A (n.*62T>A)
c.433T>A (p.Phe145Ile)
n.651T>A
c.319T>A (p.Phe107Ile)
n.698T>A
dbSNP COSMIC COSMIC
21g.34880594T>ACA410202543RUNX1c.471A>T (p.Arg157Ser)
c.390A>T (p.Arg130Ser)
c.435A>T (p.Arg145Ser)
c.*61A>T (n.*61A>T)
c.432A>T (p.Arg144Ser)
n.650A>T
c.318A>T (p.Arg106Ser)
n.697A>T
dbSNP
21g.34880594T>CCA512318689RUNX1c.471A>G (p.Arg157=)
c.390A>G (p.Arg130=)
c.435A>G (p.Arg145=)
c.*61A>G (n.*61A>G)
c.432A>G (p.Arg144=)
n.650A>G
c.318A>G (p.Arg106=)
n.697A>G
21g.34880594T>GCA410202544RUNX1c.471A>C (p.Arg157Ser)
c.390A>C (p.Arg130Ser)
c.435A>C (p.Arg145Ser)
c.*61A>C (n.*61A>C)
c.432A>C (p.Arg144Ser)
n.650A>C
c.318A>C (p.Arg106Ser)
n.697A>C
21g.34880595C>ACA410202545RUNX1c.470G>T (p.Arg157Ile)
c.389G>T (p.Arg130Ile)
c.434G>T (p.Arg145Ile)
c.*60G>T (n.*60G>T)
c.431G>T (p.Arg144Ile)
n.649G>T
c.317G>T (p.Arg106Ile)
n.696G>T
21g.34880595C>GCA410202546RUNX1c.470G>C (p.Arg157Thr)
c.389G>C (p.Arg130Thr)
c.434G>C (p.Arg145Thr)
c.*60G>C (n.*60G>C)
c.431G>C (p.Arg144Thr)
n.649G>C
c.317G>C (p.Arg106Thr)
n.696G>C
dbSNP
21g.34880595C>TCA410202547RUNX1c.470G>A (p.Arg157Lys)
c.389G>A (p.Arg130Lys)
c.434G>A (p.Arg145Lys)
c.*60G>A (n.*60G>A)
c.431G>A (p.Arg144Lys)
n.649G>A
c.317G>A (p.Arg106Lys)
n.696G>A
dbSNP
21g.34880596T>ACA410202548RUNX1c.469A>T (p.Arg157Ter)
c.388A>T (p.Arg130Ter)
c.433A>T (p.Arg145Ter)
c.*59A>T (n.*59A>T)
c.430A>T (p.Arg144Ter)
n.648A>T
c.316A>T (p.Arg106Ter)
n.695A>T
dbSNP
21g.34880596T>CCA410202549RUNX1c.469A>G (p.Arg157Gly)
c.388A>G (p.Arg130Gly)
c.433A>G (p.Arg145Gly)
c.*59A>G (n.*59A>G)
c.430A>G (p.Arg144Gly)
n.648A>G
c.316A>G (p.Arg106Gly)
n.695A>G
dbSNP
21g.34880596T>GCA512318691RUNX1c.469A>C (p.Arg157=)
c.388A>C (p.Arg130=)
c.433A>C (p.Arg145=)
c.*59A>C (n.*59A>C)
c.430A>C (p.Arg144=)
n.648A>C
c.316A>C (p.Arg106=)
n.695A>C
21g.34880596T=CA2387294325RUNX1c.469A= (p.Arg157=)
c.388A= (p.Arg130=)
c.433A= (p.Arg145=)
c.*59A= (n.*59A=)
c.430A= (p.Arg144=)
n.648A=
c.316A= (p.Arg106=)
n.695A=
21g.34880597delCA512318692RUNX1c.469del (p.Arg157AspfsTer19)
c.388del (p.Arg130AspfsTer19)
c.433del (p.Arg145AspfsTer19)
c.*59del (n.*59del)
c.430del (p.Arg144AspfsTer19)
n.648del
c.316del (p.Arg106AspfsTer19)
n.695del
COSMIC
21g.34880596_34880597insACA645607352RUNX1c.468_469insT (p.Arg157Ter)
c.387_388insT (p.Arg130Ter)
c.432_433insT (p.Arg145Ter)
c.*58_*59insT (n.*58_*59insT)
c.429_430insT (p.Arg144Ter)
n.647_648insT
c.315_316insT (p.Arg106Ter)
n.694_695insT
COSMIC
21g.34880597T>ACA512318695RUNX1c.468A>T (p.Ala156=)
c.387A>T (p.Ala129=)
c.432A>T (p.Ala144=)
c.*58A>T (n.*58A>T)
c.429A>T (p.Ala143=)
n.647A>T
c.315A>T (p.Ala105=)
n.694A>T
dbSNP
21g.34880597T>CCA512318693RUNX1c.468A>G (p.Ala156=)
c.387A>G (p.Ala129=)
c.432A>G (p.Ala144=)
c.*58A>G (n.*58A>G)
c.429A>G (p.Ala143=)
n.647A>G
c.315A>G (p.Ala105=)
n.694A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34880597T>GCA512318696RUNX1c.468A>C (p.Ala156=)
c.387A>C (p.Ala129=)
c.432A>C (p.Ala144=)
c.*58A>C (n.*58A>C)
c.429A>C (p.Ala143=)
n.647A>C
c.315A>C (p.Ala105=)
n.694A>C
21g.34880597T=CA2387294326RUNX1c.468A= (p.Ala156=)
c.387A= (p.Ala129=)
c.432A= (p.Ala144=)
c.*58A= (n.*58A=)
c.429A= (p.Ala143=)
n.647A=
c.315A= (p.Ala105=)
n.694A=
21g.34880598G>ACA410202550RUNX1c.467C>T (p.Ala156Val)
c.386C>T (p.Ala129Val)
c.431C>T (p.Ala144Val)
c.*57C>T (n.*57C>T)
c.428C>T (p.Ala143Val)
n.646C>T
c.314C>T (p.Ala105Val)
n.693C>T
dbSNP
21g.34880598G>CCA410202551RUNX1c.467C>G (p.Ala156Gly)
c.386C>G (p.Ala129Gly)
c.431C>G (p.Ala144Gly)
c.*57C>G (n.*57C>G)
c.428C>G (p.Ala143Gly)
n.646C>G
c.314C>G (p.Ala105Gly)
n.693C>G
dbSNP
21g.34880598G=CA2387294327RUNX1c.467C= (p.Ala156=)
c.386C= (p.Ala129=)
c.431C= (p.Ala144=)
c.*57C= (n.*57C=)
c.428C= (p.Ala143=)
n.646C=
c.314C= (p.Ala105=)
n.693C=
21g.34880598G>TCA248628RUNX1c.467C>A (p.Ala156Glu)
c.386C>A (p.Ala129Glu)
c.431C>A (p.Ala144Glu)
c.*57C>A (n.*57C>A)
c.428C>A (p.Ala143Glu)
n.646C>A
c.314C>A (p.Ala105Glu)
n.693C>A
ClinVar dbSNP
21g.34880598_34880600dupCA2825002848RUNX1c.465_467dup (p.Ala156_Arg157insAla)
c.384_386dup (p.Ala129_Arg130insAla)
c.429_431dup (p.Ala144_Arg145insAla)
c.*55_*57dup (n.*55_*57dup)
c.426_428dup (p.Ala143_Arg144insAla)
n.644_646dup
c.312_314dup (p.Ala105_Arg106insAla)
n.691_693dup
ClinVar
21g.34880599C>ACA410202552RUNX1c.466G>T (p.Ala156Ser)
c.385G>T (p.Ala129Ser)
c.430G>T (p.Ala144Ser)
c.*56G>T (n.*56G>T)
c.427G>T (p.Ala143Ser)
n.645G>T
c.313G>T (p.Ala105Ser)
n.692G>T
dbSNP
21g.34880599C>GCA410202553RUNX1c.466G>C (p.Ala156Pro)
c.385G>C (p.Ala129Pro)
c.430G>C (p.Ala144Pro)
c.*56G>C (n.*56G>C)
c.427G>C (p.Ala143Pro)
n.645G>C
c.313G>C (p.Ala105Pro)
n.692G>C
dbSNP
21g.34880599C>TCA410202554RUNX1c.466G>A (p.Ala156Thr)
c.385G>A (p.Ala129Thr)
c.430G>A (p.Ala144Thr)
c.*56G>A (n.*56G>A)
c.427G>A (p.Ala143Thr)
n.645G>A
c.313G>A (p.Ala105Thr)
n.692G>A
ClinVar dbSNP
21g.34880600A>CCA512318700RUNX1c.465T>G (p.Val155=)
c.384T>G (p.Val128=)
c.429T>G (p.Val143=)
c.*55T>G (n.*55T>G)
c.426T>G (p.Val142=)
n.644T>G
c.312T>G (p.Val104=)
n.691T>G
ClinVar dbSNP
21g.34880600A>GCA512318699RUNX1c.465T>C (p.Val155=)
c.384T>C (p.Val128=)
c.429T>C (p.Val143=)
c.*55T>C (n.*55T>C)
c.426T>C (p.Val142=)
n.644T>C
c.312T>C (p.Val104=)
n.691T>C
21g.34880600A>TCA512318698RUNX1c.465T>A (p.Val155=)
c.384T>A (p.Val128=)
c.429T>A (p.Val143=)
c.*55T>A (n.*55T>A)
c.426T>A (p.Val142=)
n.644T>A
c.312T>A (p.Val104=)
n.691T>A
dbSNP
21g.34880601A=CA2387294328RUNX1c.464T= (p.Val155=)
c.383T= (p.Val128=)
c.428T= (p.Val143=)
c.*54T= (n.*54T=)
c.425T= (p.Val142=)
n.643T=
c.311T= (p.Val104=)
n.690T=
21g.34880601A>CCA410202555RUNX1c.464T>G (p.Val155Gly)
c.383T>G (p.Val128Gly)
c.428T>G (p.Val143Gly)
c.*54T>G (n.*54T>G)
c.425T>G (p.Val142Gly)
n.643T>G
c.311T>G (p.Val104Gly)
n.690T>G
dbSNP
21g.34880601A>GCA10014507RUNX1c.464T>C (p.Val155Ala)
c.383T>C (p.Val128Ala)
c.428T>C (p.Val143Ala)
c.*54T>C (n.*54T>C)
c.425T>C (p.Val142Ala)
n.643T>C
c.311T>C (p.Val104Ala)
n.690T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880601A>TCA410202556RUNX1c.464T>A (p.Val155Asp)
c.383T>A (p.Val128Asp)
c.428T>A (p.Val143Asp)
c.*54T>A (n.*54T>A)
c.425T>A (p.Val142Asp)
n.643T>A
c.311T>A (p.Val104Asp)
n.690T>A
dbSNP
21g.34880655_34880656insATTCTACCTGGTTCTTCATGGCTGCGGTAGCATTTCTCAGCTCAGCCGAGTAGTTTTCATCA645607353RUNX1c.464_465insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val155_Ala156insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
c.383_384insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val128_Ala129insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
c.428_429insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val143_Ala144insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
c.*54_*55insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (n.*54_*55insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT)
c.425_426insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val142_Ala143insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
n.643_644insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT
c.311_312insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val104_Ala105insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal)
n.690_691insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT
COSMIC
21g.34880602C>ACA410202558RUNX1c.463G>T (p.Val155Phe)
c.382G>T (p.Val128Phe)
c.427G>T (p.Val143Phe)
c.*53G>T (n.*53G>T)
c.424G>T (p.Val142Phe)
n.642G>T
c.310G>T (p.Val104Phe)
n.689G>T
dbSNP
21g.34880602C=CA2387294329RUNX1c.463G= (p.Val155=)
c.382G= (p.Val128=)
c.427G= (p.Val143=)
c.*53G= (n.*53G=)
c.424G= (p.Val142=)
n.642G=
c.310G= (p.Val104=)
n.689G=
21g.34880602C>GCA10014508RUNX1c.463G>C (p.Val155Leu)
c.382G>C (p.Val128Leu)
c.427G>C (p.Val143Leu)
c.*53G>C (n.*53G>C)
c.424G>C (p.Val142Leu)
n.642G>C
c.310G>C (p.Val104Leu)
n.689G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880602C>TCA410202557RUNX1c.463G>A (p.Val155Ile)
c.382G>A (p.Val128Ile)
c.427G>A (p.Val143Ile)
c.*53G>A (n.*53G>A)
c.424G>A (p.Val142Ile)
n.642G>A
c.310G>A (p.Val104Ile)
n.689G>A
ClinVar dbSNP
21g.34880603C>ACA410202559RUNX1c.462G>T (p.Gln154His)
c.381G>T (p.Gln127His)
c.426G>T (p.Gln142His)
c.*52G>T (n.*52G>T)
c.423G>T (p.Gln141His)
n.641G>T
c.309G>T (p.Gln103His)
n.688G>T
21g.34880603C=CA2387294330RUNX1c.462G= (p.Gln154=)
c.381G= (p.Gln127=)
c.426G= (p.Gln142=)
c.*52G= (n.*52G=)
c.423G= (p.Gln141=)
n.641G=
c.309G= (p.Gln103=)
n.688G=
21g.34880603C>GCA10014509RUNX1c.462G>C (p.Gln154His)
c.381G>C (p.Gln127His)
c.426G>C (p.Gln142His)
c.*52G>C (n.*52G>C)
c.423G>C (p.Gln141His)
n.641G>C
c.309G>C (p.Gln103His)
n.688G>C
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880603C>TCA512318702RUNX1c.462G>A (p.Gln154=)
c.381G>A (p.Gln127=)
c.426G>A (p.Gln142=)
c.*52G>A (n.*52G>A)
c.423G>A (p.Gln141=)
n.641G>A
c.309G>A (p.Gln103=)
n.688G>A
dbSNP gnomAD v4
21g.34880604T>ACA410202560RUNX1c.461A>T (p.Gln154Leu)
c.380A>T (p.Gln127Leu)
c.425A>T (p.Gln142Leu)
c.*51A>T (n.*51A>T)
c.422A>T (p.Gln141Leu)
n.640A>T
c.308A>T (p.Gln103Leu)
n.687A>T
21g.34880604T>CCA10014510RUNX1c.461A>G (p.Gln154Arg)
c.380A>G (p.Gln127Arg)
c.425A>G (p.Gln142Arg)
c.*51A>G (n.*51A>G)
c.422A>G (p.Gln141Arg)
n.640A>G
c.308A>G (p.Gln103Arg)
n.687A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880604T>GCA410202561RUNX1c.461A>C (p.Gln154Pro)
c.380A>C (p.Gln127Pro)
c.425A>C (p.Gln142Pro)
c.*51A>C (n.*51A>C)
c.422A>C (p.Gln141Pro)
n.640A>C
c.308A>C (p.Gln103Pro)
n.687A>C
21g.34880604T=CA2387294331RUNX1c.461A= (p.Gln154=)
c.380A= (p.Gln127=)
c.425A= (p.Gln142=)
c.*51A= (n.*51A=)
c.422A= (p.Gln141=)
n.640A=
c.308A= (p.Gln103=)
n.687A=
21g.34880605G>ACA410202562RUNX1c.460C>T (p.Gln154Ter)
c.379C>T (p.Gln127Ter)
c.424C>T (p.Gln142Ter)
c.*50C>T (n.*50C>T)
c.421C>T (p.Gln141Ter)
n.639C>T
c.307C>T (p.Gln103Ter)
n.686C>T
dbSNP COSMIC
21g.34880605G>CCA410202564RUNX1c.460C>G (p.Gln154Glu)
c.379C>G (p.Gln127Glu)
c.424C>G (p.Gln142Glu)
c.*50C>G (n.*50C>G)
c.421C>G (p.Gln141Glu)
n.639C>G
c.307C>G (p.Gln103Glu)
n.686C>G
dbSNP
21g.34880605G>TCA410202563RUNX1c.460C>A (p.Gln154Lys)
c.379C>A (p.Gln127Lys)
c.424C>A (p.Gln142Lys)
c.*50C>A (n.*50C>A)
c.421C>A (p.Gln141Lys)
n.639C>A
c.307C>A (p.Gln103Lys)
n.686C>A
dbSNP
21g.34880606dupCA645607354RUNX1c.460dup (p.Gln154ProfsTer6)
c.379dup (p.Gln127ProfsTer6)
c.424dup (p.Gln142ProfsTer6)
c.*50dup (n.*50dup)
c.421dup (p.Gln141ProfsTer6)
n.639dup
c.307dup (p.Gln103ProfsTer6)
n.686dup
COSMIC
21g.34880606delCA913189261RUNX1c.460del (p.Gln154ArgfsTer22)
c.379del (p.Gln127ArgfsTer22)
c.424del (p.Gln142ArgfsTer22)
c.*50del (n.*50del)
c.421del (p.Gln141ArgfsTer22)
n.639del
c.307del (p.Gln103ArgfsTer22)
n.686del
21g.34880606G>ACA512318704RUNX1c.459C>T (p.Asn153=)
c.378C>T (p.Asn126=)
c.423C>T (p.Asn141=)
c.420C>T (p.Asn140=)
c.*49C>T (n.*49C>T)
n.638C>T
c.306C>T (p.Asn102=)
n.685C>T
dbSNP
21g.34880606G>CCA410202565RUNX1c.459C>G (p.Asn153Lys)
c.378C>G (p.Asn126Lys)
c.423C>G (p.Asn141Lys)
c.420C>G (p.Asn140Lys)
c.*49C>G (n.*49C>G)
n.638C>G
c.306C>G (p.Asn102Lys)
n.685C>G
dbSNP
21g.34880606G>TCA410202566RUNX1c.459C>A (p.Asn153Lys)
c.378C>A (p.Asn126Lys)
c.423C>A (p.Asn141Lys)
c.420C>A (p.Asn140Lys)
c.*49C>A (n.*49C>A)
n.638C>A
c.306C>A (p.Asn102Lys)
n.685C>A
dbSNP
21g.34880607T>ACA410202567RUNX1c.458A>T (p.Asn153Ile)
c.377A>T (p.Asn126Ile)
c.422A>T (p.Asn141Ile)
c.419A>T (p.Asn140Ile)
c.*48A>T (n.*48A>T)
n.637A>T
c.305A>T (p.Asn102Ile)
n.684A>T
21g.34880607T>CCA320637867RUNX1c.458A>G (p.Asn153Ser)
c.377A>G (p.Asn126Ser)
c.422A>G (p.Asn141Ser)
c.419A>G (p.Asn140Ser)
c.*48A>G (n.*48A>G)
n.637A>G
c.305A>G (p.Asn102Ser)
n.684A>G
dbSNP
21g.34880607T>GCA410202568RUNX1c.458A>C (p.Asn153Thr)
c.377A>C (p.Asn126Thr)
c.422A>C (p.Asn141Thr)
c.419A>C (p.Asn140Thr)
c.*48A>C (n.*48A>C)
n.637A>C
c.305A>C (p.Asn102Thr)
n.684A>C
gnomAD v4
21g.34880607T=CA2387294332RUNX1c.458A= (p.Asn153=)
c.377A= (p.Asn126=)
c.422A= (p.Asn141=)
c.419A= (p.Asn140=)
c.*48A= (n.*48A=)
n.637A=
c.305A= (p.Asn102=)
n.684A=
21g.34880608dupCA1139655015RUNX1c.458dup (p.Asn153LysfsTer7)
c.377dup (p.Asn126LysfsTer7)
c.422dup (p.Asn141LysfsTer7)
c.419dup (p.Asn140LysfsTer?)
c.*48dup (n.*48dup)
c.419dup (p.Asn140LysfsTer7)
n.637dup
c.305dup (p.Asn102LysfsTer7)
n.684dup
21g.34880608delCA2739267617RUNX1c.458del (p.Asn153ThrfsTer23)
c.377del (p.Asn126ThrfsTer23)
c.422del (p.Asn141ThrfsTer23)
c.419del (p.Asn140=)
c.*48del (n.*48del)
c.419del (p.Asn140ThrfsTer23)
n.637del
c.305del (p.Asn102ThrfsTer23)
n.684del
ClinVar
21g.34880608_34880611dupCA2695202354RUNX1c.455_458dup (p.Asn153LysfsTer8)
c.374_377dup (p.Asn126LysfsTer8)
c.419_422dup (p.Asn141LysfsTer8)
c.416_419dup (p.Asn140LysfsTer?)
c.*45_*48dup (n.*45_*48dup)
c.416_419dup (p.Asn140LysfsTer8)
n.634_637dup
c.302_305dup (p.Asn102LysfsTer8)
n.681_684dup
21g.34880608T>ACA410202569RUNX1c.457A>T (p.Asn153Tyr)
c.376A>T (p.Asn126Tyr)
c.421A>T (p.Asn141Tyr)
c.418A>T (p.Asn140Tyr)
c.*47A>T (n.*47A>T)
n.636A>T
c.304A>T (p.Asn102Tyr)
n.683A>T
21g.34880608T>CCA410202570RUNX1c.457A>G (p.Asn153Asp)
c.376A>G (p.Asn126Asp)
c.421A>G (p.Asn141Asp)
c.418A>G (p.Asn140Asp)
c.*47A>G (n.*47A>G)
n.636A>G
c.304A>G (p.Asn102Asp)
n.683A>G
dbSNP
21g.34880608T>GCA410202571RUNX1c.457A>C (p.Asn153His)
c.376A>C (p.Asn126His)
c.421A>C (p.Asn141His)
c.418A>C (p.Asn140His)
c.*47A>C (n.*47A>C)
n.636A>C
c.304A>C (p.Asn102His)
n.683A>C
21g.34880609_34880610dupCA891842369RUNX1c.456_457dup (p.Asn153ArgfsTer24)
c.375_376dup (p.Asn126ArgfsTer24)
c.420_421dup (p.Asn141ArgfsTer24)
c.417_418dup (p.Asn140ArgfsTer?)
c.*46_*47dup (n.*46_*47dup)
c.417_418dup (p.Asn140ArgfsTer24)
n.635_636dup
c.303_304dup (p.Asn102ArgfsTer24)
n.682_683dup
21g.34880609delCA645607355RUNX1c.456del (p.Asn153ThrfsTer23)
c.375del (p.Asn126ThrfsTer23)
c.420del (p.Asn141ThrfsTer23)
c.417del (p.Lys139=)
c.*46del (n.*46del)
c.417del (p.Asn140ThrfsTer23)
n.635del
c.303del (p.Asn102ThrfsTer23)
n.682del
COSMIC COSMIC
21g.34880609C>ACA410202572RUNX1c.456G>T (p.Lys152Asn)
c.375G>T (p.Lys125Asn)
c.420G>T (p.Lys140Asn)
c.417G>T (p.Lys139Asn)
c.*46G>T (n.*46G>T)
n.635G>T
c.303G>T (p.Lys101Asn)
n.682G>T
dbSNP
21g.34880609C>GCA410202573RUNX1c.456G>C (p.Lys152Asn)
c.375G>C (p.Lys125Asn)
c.420G>C (p.Lys140Asn)
c.417G>C (p.Lys139Asn)
c.*46G>C (n.*46G>C)
n.635G>C
c.303G>C (p.Lys101Asn)
n.682G>C
dbSNP
21g.34880609C>TCA512318707RUNX1c.456G>A (p.Lys152=)
c.375G>A (p.Lys125=)
c.420G>A (p.Lys140=)
c.417G>A (p.Lys139=)
c.*46G>A (n.*46G>A)
n.635G>A
c.303G>A (p.Lys101=)
n.682G>A
dbSNP
21g.34880610T>ACA410202574RUNX1c.455A>T (p.Lys152Met)
c.374A>T (p.Lys125Met)
c.419A>T (p.Lys140Met)
c.416A>T (p.Lys139Met)
c.*45A>T (n.*45A>T)
n.634A>T
c.302A>T (p.Lys101Met)
n.681A>T
dbSNP
21g.34880610T>CCA320637875RUNX1c.455A>G (p.Lys152Arg)
c.374A>G (p.Lys125Arg)
c.419A>G (p.Lys140Arg)
c.416A>G (p.Lys139Arg)
c.*45A>G (n.*45A>G)
n.634A>G
c.302A>G (p.Lys101Arg)
n.681A>G
ClinVar dbSNP
21g.34880610T>GCA410202575RUNX1c.455A>C (p.Lys152Thr)
c.374A>C (p.Lys125Thr)
c.419A>C (p.Lys140Thr)
c.416A>C (p.Lys139Thr)
c.*45A>C (n.*45A>C)
n.634A>C
c.302A>C (p.Lys101Thr)
n.681A>C
21g.34880610T=CA2387294333RUNX1c.455A= (p.Lys152=)
c.374A= (p.Lys125=)
c.419A= (p.Lys140=)
c.416A= (p.Lys139=)
c.*45A= (n.*45A=)
n.634A=
c.302A= (p.Lys101=)
n.681A=
21g.34880611dupCA1139532968RUNX1c.455dup (p.Asn153GlufsTer7)
c.374dup (p.Asn126GlufsTer7)
c.419dup (p.Asn141GlufsTer7)
c.416dup (p.Asn140GlufsTer?)
c.*45dup (n.*45dup)
c.416dup (p.Asn140GlufsTer7)
n.634dup
c.302dup (p.Asn102GlufsTer7)
n.681dup
21g.34880611delCA512318709RUNX1c.455del (p.Lys152ArgfsTer24)
c.374del (p.Lys125ArgfsTer24)
c.419del (p.Lys140ArgfsTer24)
c.416del (p.Lys139ArgfsTer?)
c.*45del (n.*45del)
c.416del (p.Lys139ArgfsTer24)
n.634del
c.302del (p.Lys101ArgfsTer24)
n.681del
COSMIC
21g.34880611T>ACA410202576RUNX1c.454A>T (p.Lys152Ter)
c.373A>T (p.Lys125Ter)
c.418A>T (p.Lys140Ter)
c.415A>T (p.Lys139Ter)
c.*44A>T (n.*44A>T)
n.633A>T
c.301A>T (p.Lys101Ter)
n.680A>T
21g.34880611T>CCA410202577RUNX1c.454A>G (p.Lys152Glu)
c.373A>G (p.Lys125Glu)
c.418A>G (p.Lys140Glu)
c.415A>G (p.Lys139Glu)
c.*44A>G (n.*44A>G)
n.633A>G
c.301A>G (p.Lys101Glu)
n.680A>G
COSMIC COSMIC
21g.34880611T>GCA410202578RUNX1c.454A>C (p.Lys152Gln)
c.373A>C (p.Lys125Gln)
c.418A>C (p.Lys140Gln)
c.415A>C (p.Lys139Gln)
c.*44A>C (n.*44A>C)
n.633A>C
c.301A>C (p.Lys101Gln)
n.680A>C
ClinVar
21g.34880612C>ACA10014511RUNX1c.453G>T (p.Met151Ile)
c.372G>T (p.Met124Ile)
c.417G>T (p.Met139Ile)
c.414G>T (p.Met138Ile)
c.*43G>T (n.*43G>T)
n.632G>T
c.300G>T (p.Met100Ile)
n.679G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880612C=CA2387294334RUNX1c.453G= (p.Met151=)
c.372G= (p.Met124=)
c.417G= (p.Met139=)
c.414G= (p.Met138=)
c.*43G= (n.*43G=)
n.632G=
c.300G= (p.Met100=)
n.679G=
21g.34880612C>GCA410202579RUNX1c.453G>C (p.Met151Ile)
c.372G>C (p.Met124Ile)
c.417G>C (p.Met139Ile)
c.414G>C (p.Met138Ile)
c.*43G>C (n.*43G>C)
n.632G>C
c.300G>C (p.Met100Ile)
n.679G>C
dbSNP
21g.34880612C>TCA410202580RUNX1c.453G>A (p.Met151Ile)
c.372G>A (p.Met124Ile)
c.417G>A (p.Met139Ile)
c.414G>A (p.Met138Ile)
c.*43G>A (n.*43G>A)
n.632G>A
c.300G>A (p.Met100Ile)
n.679G>A
dbSNP
21g.34880613A>CCA410202581RUNX1c.452T>G (p.Met151Arg)
c.371T>G (p.Met124Arg)
c.416T>G (p.Met139Arg)
c.413T>G (p.Met138Arg)
c.*42T>G (n.*42T>G)
n.631T>G
c.299T>G (p.Met100Arg)
n.678T>G
COSMIC
21g.34880613A>GCA410202582RUNX1c.452T>C (p.Met151Thr)
c.371T>C (p.Met124Thr)
c.416T>C (p.Met139Thr)
c.413T>C (p.Met138Thr)
c.*42T>C (n.*42T>C)
n.631T>C
c.299T>C (p.Met100Thr)
n.678T>C
dbSNP
21g.34880613A>TCA410202583RUNX1c.452T>A (p.Met151Lys)
c.371T>A (p.Met124Lys)
c.416T>A (p.Met139Lys)
c.413T>A (p.Met138Lys)
c.*42T>A (n.*42T>A)
n.631T>A
c.299T>A (p.Met100Lys)
n.678T>A
dbSNP
21g.34880614T>ACA410202584RUNX1c.451A>T (p.Met151Leu)
c.370A>T (p.Met124Leu)
c.415A>T (p.Met139Leu)
c.412A>T (p.Met138Leu)
c.*41A>T (n.*41A>T)
n.630A>T
c.298A>T (p.Met100Leu)
n.677A>T
ClinVar
21g.34880614T>CCA10014512RUNX1c.451A>G (p.Met151Val)
c.370A>G (p.Met124Val)
c.415A>G (p.Met139Val)
c.412A>G (p.Met138Val)
c.*41A>G (n.*41A>G)
n.630A>G
c.298A>G (p.Met100Val)
n.677A>G
ClinVar dbSNP ExAC gnomAD v2
21g.34880614T>GCA410202585RUNX1c.451A>C (p.Met151Leu)
c.370A>C (p.Met124Leu)
c.415A>C (p.Met139Leu)
c.412A>C (p.Met138Leu)
c.*41A>C (n.*41A>C)
n.630A>C
c.298A>C (p.Met100Leu)
n.677A>C
21g.34880614T=CA2387294335RUNX1c.451A= (p.Met151=)
c.370A= (p.Met124=)
c.415A= (p.Met139=)
c.412A= (p.Met138=)
c.*41A= (n.*41A=)
n.630A=
c.298A= (p.Met100=)
n.677A=
21g.34880615G>ACA512318714RUNX1c.450C>T (p.Ala150=)
c.369C>T (p.Ala123=)
c.414C>T (p.Ala138=)
c.411C>T (p.Ala137=)
c.*40C>T (n.*40C>T)
n.629C>T
c.297C>T (p.Ala99=)
n.676C>T
dbSNP gnomAD v2 gnomAD v4
21g.34880615G>CCA512318716RUNX1c.450C>G (p.Ala150=)
c.369C>G (p.Ala123=)
c.414C>G (p.Ala138=)
c.411C>G (p.Ala137=)
c.*40C>G (n.*40C>G)
n.629C>G
c.297C>G (p.Ala99=)
n.676C>G
dbSNP
21g.34880615G=CA2387294337RUNX1c.450C= (p.Ala150=)
c.369C= (p.Ala123=)
c.414C= (p.Ala138=)
c.411C= (p.Ala137=)
c.*40C= (n.*40C=)
n.629C=
c.297C= (p.Ala99=)
n.676C=
21g.34880615G>TCA512318712RUNX1c.450C>A (p.Ala150=)
c.369C>A (p.Ala123=)
c.414C>A (p.Ala138=)
c.411C>A (p.Ala137=)
c.*40C>A (n.*40C>A)
n.629C>A
c.297C>A (p.Ala99=)
n.676C>A
dbSNP
21g.34880616delCA512318715RUNX1c.450del (p.Met151Ter)
c.369del (p.Met124Ter)
c.414del (p.Met139Ter)
c.411del (p.Met138Ter)
c.*40del (n.*40del)
n.629del
c.297del (p.Met100Ter)
n.676del
COSMIC
21g.34880615_34880623delinsGGCTGCGGTCA2387294336RUNX1c.442_450delinsACCGCAGCC (p.Thr148=)
c.361_369delinsACCGCAGCC (p.Thr121=)
c.406_414delinsACCGCAGCC (p.Thr136=)
c.403_411delinsACCGCAGCC (p.Thr135=)
c.*32_*40delinsACCGCAGCC (n.*32_*40delinsACCGCAGCC)
n.621_629delinsACCGCAGCC
c.289_297delinsACCGCAGCC (p.Thr97=)
n.668_676delinsACCGCAGCC
21g.34880616G>ACA410202588RUNX1c.449C>T (p.Ala150Val)
c.368C>T (p.Ala123Val)
c.413C>T (p.Ala138Val)
c.410C>T (p.Ala137Val)
c.*39C>T (n.*39C>T)
n.628C>T
c.296C>T (p.Ala99Val)
n.675C>T
dbSNP
21g.34880616G>CCA410202587RUNX1c.449C>G (p.Ala150Gly)
c.368C>G (p.Ala123Gly)
c.413C>G (p.Ala138Gly)
c.410C>G (p.Ala137Gly)
c.*39C>G (n.*39C>G)
n.628C>G
c.296C>G (p.Ala99Gly)
n.675C>G
dbSNP
21g.34880616G>TCA410202586RUNX1c.449C>A (p.Ala150Asp)
c.368C>A (p.Ala123Asp)
c.413C>A (p.Ala138Asp)
c.410C>A (p.Ala137Asp)
c.*39C>A (n.*39C>A)
n.628C>A
c.296C>A (p.Ala99Asp)
n.675C>A
ClinVar dbSNP
21g.34880616_34880623delCA248627RUNX1c.442_449del (p.Thr148HisfsTer9)
c.361_368del (p.Thr121HisfsTer9)
c.406_413del (p.Thr136HisfsTer9)
c.403_410del (p.Thr135HisfsTer?)
c.*32_*39del (n.*32_*39del)
c.403_410del (p.Thr135HisfsTer9)
n.621_628del
c.289_296del (p.Thr97HisfsTer9)
n.668_675del
ClinVar dbSNP
21g.34880618_34880626delCA2695202536RUNX1c.441_449del (p.Thr148_Ala150del)
c.360_368del (p.Thr121_Ala123del)
c.405_413del (p.Thr136_Ala138del)
c.402_410del (p.Thr135_Ala137del)
c.*31_*39del (n.*31_*39del)
n.620_628del
c.288_296del (p.Thr97_Ala99del)
n.667_675del
21g.34880617C>ACA410202589RUNX1c.448G>T (p.Ala150Ser)
c.367G>T (p.Ala123Ser)
c.412G>T (p.Ala138Ser)
c.409G>T (p.Ala137Ser)
c.*38G>T (n.*38G>T)
n.627G>T
c.295G>T (p.Ala99Ser)
n.674G>T
dbSNP
21g.34880617C>GCA410202590RUNX1c.448G>C (p.Ala150Pro)
c.367G>C (p.Ala123Pro)
c.412G>C (p.Ala138Pro)
c.409G>C (p.Ala137Pro)
c.*38G>C (n.*38G>C)
n.627G>C
c.295G>C (p.Ala99Pro)
n.674G>C
dbSNP gnomAD v4
21g.34880617C>TCA410202591RUNX1c.448G>A (p.Ala150Thr)
c.367G>A (p.Ala123Thr)
c.412G>A (p.Ala138Thr)
c.409G>A (p.Ala137Thr)
c.*38G>A (n.*38G>A)
n.627G>A
c.295G>A (p.Ala99Thr)
n.674G>A
dbSNP
21g.34880618T>ACA512318722RUNX1c.447A>T (p.Ala149=)
c.366A>T (p.Ala122=)
c.411A>T (p.Ala137=)
c.408A>T (p.Ala136=)
c.*37A>T (n.*37A>T)
n.626A>T
c.294A>T (p.Ala98=)
n.673A>T
21g.34880618T>CCA512318721RUNX1c.447A>G (p.Ala149=)
c.366A>G (p.Ala122=)
c.411A>G (p.Ala137=)
c.408A>G (p.Ala136=)
c.*37A>G (n.*37A>G)
n.626A>G
c.294A>G (p.Ala98=)
n.673A>G
dbSNP gnomAD v4 COSMIC
21g.34880618T>GCA512318720RUNX1c.447A>C (p.Ala149=)
c.366A>C (p.Ala122=)
c.411A>C (p.Ala137=)
c.408A>C (p.Ala136=)
c.*37A>C (n.*37A>C)
n.626A>C
c.294A>C (p.Ala98=)
n.673A>C
ClinVar dbSNP
21g.34880618T=CA2387294338RUNX1c.447A= (p.Ala149=)
c.366A= (p.Ala122=)
c.411A= (p.Ala137=)
c.408A= (p.Ala136=)
c.*37A= (n.*37A=)
n.626A=
c.294A= (p.Ala98=)
n.673A=
21g.34880618_34880619insCGGTAGCATTTCTCAGCTCAGCCA645607357RUNX1c.446_447insGCTGAGCTGAGAAATGCTACCG (p.Ala150LeufsTer3)
c.365_366insGCTGAGCTGAGAAATGCTACCG (p.Ala123LeufsTer3)
c.410_411insGCTGAGCTGAGAAATGCTACCG (p.Ala138LeufsTer3)
c.407_408insGCTGAGCTGAGAAATGCTACCG (p.Ala137LeufsTer3)
c.*36_*37insGCTGAGCTGAGAAATGCTACCG (n.*36_*37insGCTGAGCTGAGAAATGCTACCG)
n.625_626insGCTGAGCTGAGAAATGCTACCG
c.293_294insGCTGAGCTGAGAAATGCTACCG (p.Ala99LeufsTer3)
n.672_673insGCTGAGCTGAGAAATGCTACCG
COSMIC
21g.34880619G>ACA410202592RUNX1c.446C>T (p.Ala149Val)
c.365C>T (p.Ala122Val)
c.410C>T (p.Ala137Val)
c.407C>T (p.Ala136Val)
c.*36C>T (n.*36C>T)
n.625C>T
c.293C>T (p.Ala98Val)
n.672C>T
21g.34880619G>CCA410202593RUNX1c.446C>G (p.Ala149Gly)
c.365C>G (p.Ala122Gly)
c.410C>G (p.Ala137Gly)
c.407C>G (p.Ala136Gly)
c.*36C>G (n.*36C>G)
n.625C>G
c.293C>G (p.Ala98Gly)
n.672C>G
dbSNP
21g.34880619G>TCA410202594RUNX1c.446C>A (p.Ala149Glu)
c.365C>A (p.Ala122Glu)
c.410C>A (p.Ala137Glu)
c.407C>A (p.Ala136Glu)
c.*36C>A (n.*36C>A)
n.625C>A
c.293C>A (p.Ala98Glu)
n.672C>A
21g.34880621_34880626dupCA645607356RUNX1c.441_446dup (p.Ala149_Ala150insThrAla)
c.360_365dup (p.Ala122_Ala123insThrAla)
c.405_410dup (p.Ala137_Ala138insThrAla)
c.402_407dup (p.Ala136_Ala137insThrAla)
c.*31_*36dup (n.*31_*36dup)
n.620_625dup
c.288_293dup (p.Ala98_Ala99insThrAla)
n.667_672dup
COSMIC
21g.34880620C>ACA410202595RUNX1c.445G>T (p.Ala149Ser)
c.364G>T (p.Ala122Ser)
c.409G>T (p.Ala137Ser)
c.406G>T (p.Ala136Ser)
c.*35G>T (n.*35G>T)
n.624G>T
c.292G>T (p.Ala98Ser)
n.671G>T
dbSNP
21g.34880620C=CA2387294339RUNX1c.445G= (p.Ala149=)
c.364G= (p.Ala122=)
c.409G= (p.Ala137=)
c.406G= (p.Ala136=)
c.*35G= (n.*35G=)
n.624G=
c.292G= (p.Ala98=)
n.671G=
21g.34880620C>GCA410202596RUNX1c.445G>C (p.Ala149Pro)
c.364G>C (p.Ala122Pro)
c.409G>C (p.Ala137Pro)
c.406G>C (p.Ala136Pro)
c.*35G>C (n.*35G>C)
n.624G>C
c.292G>C (p.Ala98Pro)
n.671G>C
dbSNP gnomAD v2
21g.34880620C>TCA10014513RUNX1c.445G>A (p.Ala149Thr)
c.364G>A (p.Ala122Thr)
c.409G>A (p.Ala137Thr)
c.406G>A (p.Ala136Thr)
c.*35G>A (n.*35G>A)
n.624G>A
c.292G>A (p.Ala98Thr)
n.671G>A
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
21g.34880629_34880630insCTTCAGCTCAGCCGGTAGCATTCA645607359RUNX1c.445_446insGCTGAGCTGAAGAATGCTACCG (p.Ala149GlyfsTer2)
c.364_365insGCTGAGCTGAAGAATGCTACCG (p.Ala122GlyfsTer2)
c.409_410insGCTGAGCTGAAGAATGCTACCG (p.Ala137GlyfsTer2)
c.406_407insGCTGAGCTGAAGAATGCTACCG (p.Ala136GlyfsTer2)
c.*35_*36insGCTGAGCTGAAGAATGCTACCG (n.*35_*36insGCTGAGCTGAAGAATGCTACCG)
n.624_625insGCTGAGCTGAAGAATGCTACCG
c.292_293insGCTGAGCTGAAGAATGCTACCG (p.Ala98GlyfsTer2)
n.671_672insGCTGAGCTGAAGAATGCTACCG
COSMIC
21g.34880622_34880643dupCA645607358RUNX1c.424_445dup (p.Ala149GlyfsTer2)
c.343_364dup (p.Ala122GlyfsTer2)
c.388_409dup (p.Ala137GlyfsTer2)
c.385_406dup (p.Ala136GlyfsTer2)
c.*14_*35dup (n.*14_*35dup)
n.603_624dup
c.271_292dup (p.Ala98GlyfsTer2)
n.650_671dup
COSMIC COSMIC
21g.34880620_34880651dupCA2580617823RUNX1c.414_445dup (p.Ala149GlufsTer7)
c.333_364dup (p.Ala122GlufsTer7)
c.378_409dup (p.Ala137GlufsTer7)
c.375_406dup (p.Ala136GlufsTer7)
c.*4_*35dup (n.*4_*35dup)
n.593_624dup
c.261_292dup (p.Ala98GlufsTer7)
n.640_671dup
21g.34880621G>ACA10014514RUNX1c.444C>T (p.Thr148=)
c.363C>T (p.Thr121=)
c.408C>T (p.Thr136=)
c.405C>T (p.Thr135=)
c.*34C>T (n.*34C>T)
n.623C>T
c.291C>T (p.Thr97=)
n.670C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.34880621G>CCA512318725RUNX1c.444C>G (p.Thr148=)
c.363C>G (p.Thr121=)
c.408C>G (p.Thr136=)
c.405C>G (p.Thr135=)
c.*34C>G (n.*34C>G)
n.623C>G
c.291C>G (p.Thr97=)
n.670C>G
dbSNP gnomAD v4
21g.34880621G=CA2387294340RUNX1c.444C= (p.Thr148=)
c.363C= (p.Thr121=)
c.408C= (p.Thr136=)
c.405C= (p.Thr135=)
c.*34C= (n.*34C=)
n.623C=
c.291C= (p.Thr97=)
n.670C=
21g.34880621G>TCA512318726RUNX1c.444C>A (p.Thr148=)
c.363C>A (p.Thr121=)
c.408C>A (p.Thr136=)
c.405C>A (p.Thr135=)
c.*34C>A (n.*34C>A)
n.623C>A
c.291C>A (p.Thr97=)
n.670C>A
21g.34880621_34880623dupCA2830665545RUNX1c.442_444dup (p.Thr148_Ala149insThr)
c.361_363dup (p.Thr121_Ala122insThr)
c.406_408dup (p.Thr136_Ala137insThr)
c.403_405dup (p.Thr135_Ala136insThr)
c.*32_*34dup (n.*32_*34dup)
n.621_623dup
c.289_291dup (p.Thr97_Ala98insThr)
n.668_670dup
21g.34880622_34880640dupCA891842372RUNX1c.426_444dup (p.Ala149Ter)
c.345_363dup (p.Ala122Ter)
c.390_408dup (p.Ala137Ter)
c.387_405dup (p.Ala136Ter)
c.*16_*34dup (n.*16_*34dup)
n.605_623dup
c.273_291dup (p.Ala98Ter)
n.652_670dup
21g.34880622G>ACA410202597RUNX1c.443C>T (p.Thr148Ile)
c.362C>T (p.Thr121Ile)
c.407C>T (p.Thr136Ile)
c.404C>T (p.Thr135Ile)
c.*33C>T (n.*33C>T)
n.622C>T
c.290C>T (p.Thr97Ile)
n.669C>T
ClinVar dbSNP
21g.34880622G>CCA410202598RUNX1c.443C>G (p.Thr148Ser)
c.362C>G (p.Thr121Ser)
c.407C>G (p.Thr136Ser)
c.404C>G (p.Thr135Ser)
c.*33C>G (n.*33C>G)
n.622C>G
c.290C>G (p.Thr97Ser)
n.669C>G
ClinVar dbSNP
21g.34880622G=CA2387294341RUNX1c.443C= (p.Thr148=)
c.362C= (p.Thr121=)
c.407C= (p.Thr136=)
c.404C= (p.Thr135=)
c.*33C= (n.*33C=)
n.622C=
c.290C= (p.Thr97=)
n.669C=
21g.34880622G>TCA410202599RUNX1c.443C>A (p.Thr148Asn)
c.362C>A (p.Thr121Asn)
c.407C>A (p.Thr136Asn)
c.404C>A (p.Thr135Asn)
c.*33C>A (n.*33C>A)
n.622C>A
c.290C>A (p.Thr97Asn)
n.669C>A
dbSNP
21g.34880682_34880683insGGTTAGCCCCGTAGCATTTCTCAGCTCAGCCGAGTAGTTTTCATCATTGCCAGCCATCACAGTGACCAGAGCA645607360RUNX1c.443_444insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala149GlyfsTer8)
c.362_363insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala122GlyfsTer8)
c.407_408insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala137GlyfsTer8)
c.404_405insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala136GlyfsTer8)
c.*33_*34insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (n.*33_*34insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC)
n.622_623insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC
c.290_291insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala98GlyfsTer8)
n.669_670insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC
COSMIC
21g.34880622_34880623insATCTACTCCA645607361RUNX1c.442_443insGAGTAGAT (p.Thr148ArgfsTer7)
c.361_362insGAGTAGAT (p.Thr121ArgfsTer7)
c.406_407insGAGTAGAT (p.Thr136ArgfsTer7)
c.403_404insGAGTAGAT (p.Thr135ArgfsTer7)
c.*32_*33insGAGTAGAT (n.*32_*33insGAGTAGAT)
n.621_622insGAGTAGAT
c.289_290insGAGTAGAT (p.Thr97ArgfsTer7)
n.668_669insGAGTAGAT
COSMIC
21g.34880623T>ACA410202601RUNX1c.442A>T (p.Thr148Ser)
c.361A>T (p.Thr121Ser)
c.406A>T (p.Thr136Ser)
c.403A>T (p.Thr135Ser)
c.*32A>T (n.*32A>T)
n.621A>T
c.289A>T (p.Thr97Ser)
n.668A>T
dbSNP
21g.34880623T>CCA410202602RUNX1c.442A>G (p.Thr148Ala)
c.361A>G (p.Thr121Ala)
c.406A>G (p.Thr136Ala)
c.403A>G (p.Thr135Ala)
c.*32A>G (n.*32A>G)
n.621A>G
c.289A>G (p.Thr97Ala)
n.668A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34880623T>GCA410202600RUNX1c.442A>C (p.Thr148Pro)
c.361A>C (p.Thr121Pro)
c.406A>C (p.Thr136Pro)
c.403A>C (p.Thr135Pro)
c.*32A>C (n.*32A>C)
n.621A>C
c.289A>C (p.Thr97Pro)
n.668A>C
dbSNP gnomAD v2 gnomAD v4
21g.34880623T=CA2387294342RUNX1c.442A= (p.Thr148=)
c.361A= (p.Thr121=)
c.406A= (p.Thr136=)
c.403A= (p.Thr135=)
c.*32A= (n.*32A=)
n.621A=
c.289A= (p.Thr97=)
n.668A=
21g.34880624A=CA2387294343RUNX1c.441T= (p.Ala147=)
c.360T= (p.Ala120=)
c.405T= (p.Ala135=)
c.402T= (p.Ala134=)
c.*31T= (n.*31T=)
n.620T=
c.288T= (p.Ala96=)
n.667T=
21g.34880624A>CCA512318728RUNX1c.441T>G (p.Ala147=)
c.360T>G (p.Ala120=)
c.405T>G (p.Ala135=)
c.402T>G (p.Ala134=)
c.*31T>G (n.*31T>G)
n.620T>G
c.288T>G (p.Ala96=)
n.667T>G
21g.34880624A>GCA10014515RUNX1c.441T>C (p.Ala147=)
c.360T>C (p.Ala120=)
c.405T>C (p.Ala135=)
c.402T>C (p.Ala134=)
c.*31T>C (n.*31T>C)
n.620T>C
c.288T>C (p.Ala96=)
n.667T>C
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34880624A>TCA512318729RUNX1c.441T>A (p.Ala147=)
c.360T>A (p.Ala120=)
c.405T>A (p.Ala135=)
c.402T>A (p.Ala134=)
c.*31T>A (n.*31T>A)
n.620T>A
c.288T>A (p.Ala96=)
n.667T>A
dbSNP
21g.34880624dupCA2695202320RUNX1c.441dup (p.Thr148TyrfsTer12)
c.360dup (p.Thr121TyrfsTer12)
c.405dup (p.Thr136TyrfsTer12)
c.402dup (p.Thr135TyrfsTer?)
c.*31dup (n.*31dup)
c.402dup (p.Thr135TyrfsTer12)
n.620dup
c.288dup (p.Thr97TyrfsTer12)
n.667dup
21g.34880627_34880636delCA645607363RUNX1c.432_441del (p.Arg145ProfsTer4)
c.351_360del (p.Arg118ProfsTer4)
c.396_405del (p.Arg133ProfsTer4)
c.393_402del (p.Arg132ProfsTer4)
c.*22_*31del (n.*22_*31del)
n.611_620del
c.279_288del (p.Arg94ProfsTer4)
n.658_667del
COSMIC
21g.34880624_34880642dupCA645607362RUNX1c.423_441dup (p.Thr148GlyfsTer2)
c.342_360dup (p.Thr121GlyfsTer2)
c.387_405dup (p.Thr136GlyfsTer2)
c.384_402dup (p.Thr135GlyfsTer2)
c.*13_*31dup (n.*13_*31dup)
n.602_620dup
c.270_288dup (p.Thr97GlyfsTer2)
n.649_667dup
COSMIC COSMIC
21g.34880625G>ACA410202603RUNX1c.440C>T (p.Ala147Val)
c.359C>T (p.Ala120Val)
c.404C>T (p.Ala135Val)
c.401C>T (p.Ala134Val)
c.*30C>T (n.*30C>T)
n.619C>T
c.287C>T (p.Ala96Val)
n.666C>T
ClinVar dbSNP gnomAD v4
21g.34880625G>CCA410202604RUNX1c.440C>G (p.Ala147Gly)
c.359C>G (p.Ala120Gly)
c.404C>G (p.Ala135Gly)
c.401C>G (p.Ala134Gly)
c.*30C>G (n.*30C>G)
n.619C>G
c.287C>G (p.Ala96Gly)
n.666C>G
ClinVar dbSNP
21g.34880625G>TCA410202605RUNX1c.440C>A (p.Ala147Asp)
c.359C>A (p.Ala120Asp)
c.404C>A (p.Ala135Asp)
c.401C>A (p.Ala134Asp)
c.*30C>A (n.*30C>A)
n.619C>A
c.287C>A (p.Ala96Asp)
n.666C>A
COSMIC
21g.34880625_34880626delinsAAAAGGCACA645607364RUNX1c.439_440delinsTGCCTTTT (p.Ala147delinsCysLeuPhe)
c.358_359delinsTGCCTTTT (p.Ala120delinsCysLeuPhe)
c.403_404delinsTGCCTTTT (p.Ala135delinsCysLeuPhe)
c.400_401delinsTGCCTTTT (p.Ala134delinsCysLeuPhe)
c.*29_*30delinsTGCCTTTT (n.*29_*30delinsTGCCTTTT)
n.618_619delinsTGCCTTTT
c.286_287delinsTGCCTTTT (p.Ala96delinsCysLeuPhe)
n.665_666delinsTGCCTTTT
COSMIC COSMIC
21g.34880626C>ACA410202606RUNX1c.439G>T (p.Ala147Ser)
c.358G>T (p.Ala120Ser)
c.403G>T (p.Ala135Ser)
c.400G>T (p.Ala134Ser)
c.*29G>T (n.*29G>T)
n.618G>T
c.286G>T (p.Ala96Ser)
n.665G>T
dbSNP
21g.34880626C>GCA410202607RUNX1c.439G>C (p.Ala147Pro)
c.358G>C (p.Ala120Pro)
c.403G>C (p.Ala135Pro)
c.400G>C (p.Ala134Pro)
c.*29G>C (n.*29G>C)
n.618G>C
c.286G>C (p.Ala96Pro)
n.665G>C
dbSNP
21g.34880626C>TCA410202608RUNX1c.439G>A (p.Ala147Thr)
c.358G>A (p.Ala120Thr)
c.403G>A (p.Ala135Thr)
c.400G>A (p.Ala134Thr)
c.*29G>A (n.*29G>A)
n.618G>A
c.286G>A (p.Ala96Thr)
n.665G>A
dbSNP
21g.34880626dupCA645607365RUNX1c.439dup (p.Ala147GlyfsTer13)
c.358dup (p.Ala120GlyfsTer13)
c.403dup (p.Ala135GlyfsTer13)
c.400dup (p.Ala134GlyfsTer?)
c.*29dup (n.*29dup)
c.400dup (p.Ala134GlyfsTer13)
n.618dup
c.286dup (p.Ala96GlyfsTer13)
n.665dup
COSMIC
21g.34880628_34880639dupCA2573157359RUNX1c.428_439dup (p.Asn146_Ala147insGluLeuArgAsn)
c.347_358dup (p.Asn119_Ala120insGluLeuArgAsn)
c.392_403dup (p.Asn134_Ala135insGluLeuArgAsn)
c.389_400dup (p.Asn133_Ala134insGluLeuArgAsn)
c.*18_*29dup (n.*18_*29dup)
n.607_618dup
c.275_286dup (p.Asn95_Ala96insGluLeuArgAsn)
n.654_665dup
ClinVar dbSNP
21g.34880627A=CA2387294344RUNX1c.438T= (p.Asn146=)
c.357T= (p.Asn119=)
c.402T= (p.Asn134=)
c.399T= (p.Asn133=)
c.*28T= (n.*28T=)
n.617T=
c.285T= (p.Asn95=)
n.664T=
21g.34880627A>CCA410202609RUNX1c.438T>G (p.Asn146Lys)
c.357T>G (p.Asn119Lys)
c.402T>G (p.Asn134Lys)
c.399T>G (p.Asn133Lys)
c.*28T>G (n.*28T>G)
n.617T>G
c.285T>G (p.Asn95Lys)
n.664T>G
dbSNP COSMIC COSMIC
21g.34880627A>GCA10014516RUNX1c.438T>C (p.Asn146=)
c.357T>C (p.Asn119=)
c.402T>C (p.Asn134=)
c.399T>C (p.Asn133=)
c.*28T>C (n.*28T>C)
n.617T>C
c.285T>C (p.Asn95=)
n.664T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880627A>TCA410202610RUNX1c.438T>A (p.Asn146Lys)
c.357T>A (p.Asn119Lys)
c.402T>A (p.Asn134Lys)
c.399T>A (p.Asn133Lys)
c.*28T>A (n.*28T>A)
n.617T>A
c.285T>A (p.Asn95Lys)
n.664T>A
dbSNP
21g.34880628T>ACA410202611RUNX1c.437A>T (p.Asn146Ile)
c.356A>T (p.Asn119Ile)
c.401A>T (p.Asn134Ile)
c.398A>T (p.Asn133Ile)
c.*27A>T (n.*27A>T)
n.616A>T
c.284A>T (p.Asn95Ile)
n.663A>T
ClinVar dbSNP COSMIC
21g.34880628T>CCA410202612RUNX1c.437A>G (p.Asn146Ser)
c.356A>G (p.Asn119Ser)
c.401A>G (p.Asn134Ser)
c.398A>G (p.Asn133Ser)
c.*27A>G (n.*27A>G)
n.616A>G
c.284A>G (p.Asn95Ser)
n.663A>G
21g.34880628T>GCA410202613RUNX1c.437A>C (p.Asn146Thr)
c.356A>C (p.Asn119Thr)
c.401A>C (p.Asn134Thr)
c.398A>C (p.Asn133Thr)
c.*27A>C (n.*27A>C)
n.616A>C
c.284A>C (p.Asn95Thr)
n.663A>C
COSMIC COSMIC
21g.34880628T=CA2387294345RUNX1c.437A= (p.Asn146=)
c.356A= (p.Asn119=)
c.401A= (p.Asn134=)
c.398A= (p.Asn133=)
c.*27A= (n.*27A=)
n.616A=
c.284A= (p.Asn95=)
n.663A=
21g.34880629T>ACA410202614RUNX1c.436A>T (p.Asn146Tyr)
c.355A>T (p.Asn119Tyr)
c.400A>T (p.Asn134Tyr)
c.397A>T (p.Asn133Tyr)
c.*26A>T (n.*26A>T)
n.615A>T
c.283A>T (p.Asn95Tyr)
n.662A>T
ClinVar dbSNP
21g.34880629T>CCA410202616RUNX1c.436A>G (p.Asn146Asp)
c.355A>G (p.Asn119Asp)
c.400A>G (p.Asn134Asp)
c.397A>G (p.Asn133Asp)
c.*26A>G (n.*26A>G)
n.615A>G
c.283A>G (p.Asn95Asp)
n.662A>G
gnomAD v4
21g.34880629T>GCA410202615RUNX1c.436A>C (p.Asn146His)
c.355A>C (p.Asn119His)
c.400A>C (p.Asn134His)
c.397A>C (p.Asn133His)
c.*26A>C (n.*26A>C)
n.615A>C
c.283A>C (p.Asn95His)
n.662A>C
21g.34880629T=CA2387294346RUNX1c.436A= (p.Asn146=)
c.355A= (p.Asn119=)
c.400A= (p.Asn134=)
c.397A= (p.Asn133=)
c.*26A= (n.*26A=)
n.615A=
c.283A= (p.Asn95=)
n.662A=
21g.34880630T>ACA410202617RUNX1c.435A>T (p.Arg145Ser)
c.354A>T (p.Arg118Ser)
c.399A>T (p.Arg133Ser)
c.396A>T (p.Arg132Ser)
c.*25A>T (n.*25A>T)
n.614A>T
c.282A>T (p.Arg94Ser)
n.661A>T
21g.34880630T>CCA512318730RUNX1c.435A>G (p.Arg145=)
c.354A>G (p.Arg118=)
c.399A>G (p.Arg133=)
c.396A>G (p.Arg132=)
c.*25A>G (n.*25A>G)
n.614A>G
c.282A>G (p.Arg94=)
n.661A>G
21g.34880630T>GCA410202618RUNX1c.435A>C (p.Arg145Ser)
c.354A>C (p.Arg118Ser)
c.399A>C (p.Arg133Ser)
c.396A>C (p.Arg132Ser)
c.*25A>C (n.*25A>C)
n.614A>C
c.282A>C (p.Arg94Ser)
n.661A>C
21g.34880630_34880631insATCTACTCCA645607367RUNX1c.434_435insGAGTAGAT (p.Asn146SerfsTer3)
c.353_354insGAGTAGAT (p.Asn119SerfsTer3)
c.398_399insGAGTAGAT (p.Asn134SerfsTer3)
c.395_396insGAGTAGAT (p.Asn133SerfsTer3)
c.*24_*25insGAGTAGAT (n.*24_*25insGAGTAGAT)
n.613_614insGAGTAGAT
c.281_282insGAGTAGAT (p.Asn95SerfsTer3)
n.660_661insGAGTAGAT
COSMIC
21g.34880631C>ACA410202619RUNX1c.434G>T (p.Arg145Ile)
c.353G>T (p.Arg118Ile)
c.398G>T (p.Arg133Ile)
c.395G>T (p.Arg132Ile)
c.*24G>T (n.*24G>T)
n.613G>T
c.281G>T (p.Arg94Ile)
n.660G>T
21g.34880631C>GCA410202620RUNX1c.434G>C (p.Arg145Thr)
c.353G>C (p.Arg118Thr)
c.398G>C (p.Arg133Thr)
c.395G>C (p.Arg132Thr)
c.*24G>C (n.*24G>C)
n.613G>C
c.281G>C (p.Arg94Thr)
n.660G>C
21g.34880631C>TCA410202621RUNX1c.434G>A (p.Arg145Lys)
c.353G>A (p.Arg118Lys)
c.398G>A (p.Arg133Lys)
c.395G>A (p.Arg132Lys)
c.*24G>A (n.*24G>A)
n.613G>A
c.281G>A (p.Arg94Lys)
n.660G>A
21g.34880637_34880641dupCA645607366RUNX1c.430_434dup (p.Arg145SerfsTer2)
c.349_353dup (p.Arg118SerfsTer2)
c.394_398dup (p.Arg133SerfsTer2)
c.391_395dup (p.Arg132SerfsTer2)
c.*20_*24dup (n.*20_*24dup)
n.609_613dup
c.277_281dup (p.Arg94SerfsTer2)
n.656_660dup
COSMIC COSMIC
21g.34880637_34880641delCA2737753333RUNX1c.430_434del (p.Leu144LysfsTer14)
c.349_353del (p.Leu117LysfsTer14)
c.394_398del (p.Leu132LysfsTer14)
c.391_395del (p.Leu131LysfsTer?)
c.*20_*24del (n.*20_*24del)
c.391_395del (p.Leu131LysfsTer14)
n.609_613del
c.277_281del (p.Leu93LysfsTer14)
n.656_660del
dbSNP
21g.34880632T>ACA410202622RUNX1c.433A>T (p.Arg145Ter)
c.352A>T (p.Arg118Ter)
c.397A>T (p.Arg133Ter)
c.394A>T (p.Arg132Ter)
c.*23A>T (n.*23A>T)
n.612A>T
c.280A>T (p.Arg94Ter)
n.659A>T
dbSNP
21g.34880632T>CCA16616277RUNX1c.433A>G (p.Arg145Gly)
c.352A>G (p.Arg118Gly)
c.397A>G (p.Arg133Gly)
c.394A>G (p.Arg132Gly)
c.*23A>G (n.*23A>G)
n.612A>G
c.280A>G (p.Arg94Gly)
n.659A>G
ClinVar dbSNP COSMIC
21g.34880632T>GCA10014517RUNX1c.433A>C (p.Arg145=)
c.352A>C (p.Arg118=)
c.397A>C (p.Arg133=)
c.394A>C (p.Arg132=)
c.*23A>C (n.*23A>C)
n.612A>C
c.280A>C (p.Arg94=)
n.659A>C
ClinVar dbSNP ExAC
21g.34880632T=CA2387294347RUNX1c.433A= (p.Arg145=)
c.352A= (p.Arg118=)
c.397A= (p.Arg133=)
c.394A= (p.Arg132=)
c.*23A= (n.*23A=)
n.612A=
c.280A= (p.Arg94=)
n.659A=
21g.34880633C>ACA512318732RUNX1c.432G>T (p.Leu144=)
c.351G>T (p.Leu117=)
c.396G>T (p.Leu132=)
c.393G>T (p.Leu131=)
c.*22G>T (n.*22G>T)
n.611G>T
c.279G>T (p.Leu93=)
n.658G>T
dbSNP
21g.34880633C>GCA512318733RUNX1c.432G>C (p.Leu144=)
c.351G>C (p.Leu117=)
c.396G>C (p.Leu132=)
c.393G>C (p.Leu131=)
c.*22G>C (n.*22G>C)
n.611G>C
c.279G>C (p.Leu93=)
n.658G>C
dbSNP
21g.34880633C>TCA512318731RUNX1c.432G>A (p.Leu144=)
c.351G>A (p.Leu117=)
c.396G>A (p.Leu132=)
c.393G>A (p.Leu131=)
c.*22G>A (n.*22G>A)
n.611G>A
c.279G>A (p.Leu93=)
n.658G>A
ClinVar dbSNP
21g.34880633_34880641delinsGGGGGTCA645607368RUNX1c.424_432delinsACCCCC (p.Ala142_Leu144delinsThrPro)
c.343_351delinsACCCCC (p.Ala115_Leu117delinsThrPro)
c.388_396delinsACCCCC (p.Ala130_Leu132delinsThrPro)
c.385_393delinsACCCCC (p.Ala129_Leu131delinsThrPro)
c.*14_*22delinsACCCCC (n.*14_*22delinsACCCCC)
n.603_611delinsACCCCC
c.271_279delinsACCCCC (p.Ala91_Leu93delinsThrPro)
n.650_658delinsACCCCC
COSMIC
21g.34880634A=CA2387294348RUNX1c.431T= (p.Leu144=)
c.350T= (p.Leu117=)
c.395T= (p.Leu132=)
c.392T= (p.Leu131=)
c.*21T= (n.*21T=)
n.610T=
c.278T= (p.Leu93=)
n.657T=
21g.34880634A>CCA410202623RUNX1c.431T>G (p.Leu144Arg)
c.350T>G (p.Leu117Arg)
c.395T>G (p.Leu132Arg)
c.392T>G (p.Leu131Arg)
c.*21T>G (n.*21T>G)
n.610T>G
c.278T>G (p.Leu93Arg)
n.657T>G
21g.34880634A>GCA320637976RUNX1c.431T>C (p.Leu144Pro)
c.350T>C (p.Leu117Pro)
c.395T>C (p.Leu132Pro)
c.392T>C (p.Leu131Pro)
c.*21T>C (n.*21T>C)
n.610T>C
c.278T>C (p.Leu93Pro)
n.657T>C
ClinVar dbSNP COSMIC
21g.34880634A>TCA410202624RUNX1c.431T>A (p.Leu144Gln)
c.350T>A (p.Leu117Gln)
c.395T>A (p.Leu132Gln)
c.392T>A (p.Leu131Gln)
c.*21T>A (n.*21T>A)
n.610T>A
c.278T>A (p.Leu93Gln)
n.657T>A
dbSNP
21g.34880651_34880652insGGAAGCTCAGCCGAGTAGTTTCA2695202658RUNX1c.431_432insTCCAAACTACTCGGCTGAGCT (p.Leu144_Arg145insProAsnTyrSerAlaGluLeu)
c.350_351insTCCAAACTACTCGGCTGAGCT (p.Leu117_Arg118insProAsnTyrSerAlaGluLeu)
c.395_396insTCCAAACTACTCGGCTGAGCT (p.Leu132_Arg133insProAsnTyrSerAlaGluLeu)
c.392_393insTCCAAACTACTCGGCTGAGCT (p.Leu131_Arg132insProAsnTyrSerAlaGluLeu)
c.*21_*22insTCCAAACTACTCGGCTGAGCT (n.*21_*22insTCCAAACTACTCGGCTGAGCT)
n.610_611insTCCAAACTACTCGGCTGAGCT
c.278_279insTCCAAACTACTCGGCTGAGCT (p.Leu93_Arg94insProAsnTyrSerAlaGluLeu)
n.657_658insTCCAAACTACTCGGCTGAGCT
21g.34880635G>ACA512318734RUNX1c.430C>T (p.Leu144=)
c.349C>T (p.Leu117=)
c.394C>T (p.Leu132=)
c.391C>T (p.Leu131=)
c.*20C>T (n.*20C>T)
n.609C>T
c.277C>T (p.Leu93=)
n.656C>T
ClinVar dbSNP
21g.34880635G>CCA410202625RUNX1c.430C>G (p.Leu144Val)
c.349C>G (p.Leu117Val)
c.394C>G (p.Leu132Val)
c.391C>G (p.Leu131Val)
c.*20C>G (n.*20C>G)
n.609C>G
c.277C>G (p.Leu93Val)
n.656C>G
dbSNP
21g.34880635G>TCA410202626RUNX1c.430C>A (p.Leu144Met)
c.349C>A (p.Leu117Met)
c.394C>A (p.Leu132Met)
c.391C>A (p.Leu131Met)
c.*20C>A (n.*20C>A)
n.609C>A
c.277C>A (p.Leu93Met)
n.656C>A
dbSNP
21g.34880636C>ACA410202627RUNX1c.429G>T (p.Glu143Asp)
c.348G>T (p.Glu116Asp)
c.393G>T (p.Glu131Asp)
c.390G>T (p.Glu130Asp)
c.*19G>T (n.*19G>T)
n.608G>T
c.276G>T (p.Glu92Asp)
n.655G>T
dbSNP
21g.34880636C>GCA410202628RUNX1c.429G>C (p.Glu143Asp)
c.348G>C (p.Glu116Asp)
c.393G>C (p.Glu131Asp)
c.390G>C (p.Glu130Asp)
c.*19G>C (n.*19G>C)
n.608G>C
c.276G>C (p.Glu92Asp)
n.655G>C
dbSNP
21g.34880636C>TCA512318735RUNX1c.429G>A (p.Glu143=)
c.348G>A (p.Glu116=)
c.393G>A (p.Glu131=)
c.390G>A (p.Glu130=)
c.*19G>A (n.*19G>A)
n.608G>A
c.276G>A (p.Glu92=)
n.655G>A
21g.34880637_34880638delCA2580618078RUNX1c.428_429del (p.Glu143AlafsTer16)
c.347_348del (p.Glu116AlafsTer16)
c.392_393del (p.Glu131AlafsTer16)
c.389_390del (p.Glu130AlafsTer?)
c.*18_*19del (n.*18_*19del)
c.389_390del (p.Glu130AlafsTer16)
n.607_608del
c.275_276del (p.Glu92AlafsTer16)
n.654_655del
21g.34880636_34880642delCA645607369RUNX1c.423_429del (p.Ala142Ter)
c.342_348del (p.Ala115Ter)
c.387_393del (p.Ala130Ter)
c.384_390del (p.Ala129Ter)
c.*13_*19del (n.*13_*19del)
n.602_608del
c.270_276del (p.Ala91Ter)
n.649_655del
COSMIC COSMIC
21g.34880637delCA2695202659RUNX1c.428del (p.Glu143GlyfsTer2)
c.347del (p.Glu116GlyfsTer2)
c.392del (p.Glu131GlyfsTer2)
c.389del (p.Glu130GlyfsTer2)
c.*18del (n.*18del)
n.607del
c.275del (p.Glu92GlyfsTer2)
n.654del
21g.34880637T>ACA410202629RUNX1c.428A>T (p.Glu143Val)
c.347A>T (p.Glu116Val)
c.392A>T (p.Glu131Val)
c.389A>T (p.Glu130Val)
c.*18A>T (n.*18A>T)
n.607A>T
c.275A>T (p.Glu92Val)
n.654A>T
dbSNP
21g.34880637T>CCA410202631RUNX1c.428A>G (p.Glu143Gly)
c.347A>G (p.Glu116Gly)
c.392A>G (p.Glu131Gly)
c.389A>G (p.Glu130Gly)
c.*18A>G (n.*18A>G)
n.607A>G
c.275A>G (p.Glu92Gly)
n.654A>G
dbSNP
21g.34880637T>GCA410202630RUNX1c.428A>C (p.Glu143Ala)
c.347A>C (p.Glu116Ala)
c.392A>C (p.Glu131Ala)
c.389A>C (p.Glu130Ala)
c.*18A>C (n.*18A>C)
n.607A>C
c.275A>C (p.Glu92Ala)
n.654A>C
21g.34880644_34880645insAAGGAGTCAGCCGACA645607370RUNX1c.428_429insCTCCTTTCGGCTGA (p.Glu143AspfsTer7)
c.347_348insCTCCTTTCGGCTGA (p.Glu116AspfsTer7)
c.392_393insCTCCTTTCGGCTGA (p.Glu131AspfsTer7)
c.389_390insCTCCTTTCGGCTGA (p.Glu130AspfsTer7)
c.*18_*19insCTCCTTTCGGCTGA (n.*18_*19insCTCCTTTCGGCTGA)
n.607_608insCTCCTTTCGGCTGA
c.275_276insCTCCTTTCGGCTGA (p.Glu92AspfsTer7)
n.654_655insCTCCTTTCGGCTGA
COSMIC
21g.34880638C>ACA410202632RUNX1c.427G>T (p.Glu143Ter)
c.346G>T (p.Glu116Ter)
c.391G>T (p.Glu131Ter)
c.388G>T (p.Glu130Ter)
c.*17G>T (n.*17G>T)
n.606G>T
c.274G>T (p.Glu92Ter)
n.653G>T
21g.34880638C>GCA410202634RUNX1c.427G>C (p.Glu143Gln)
c.346G>C (p.Glu116Gln)
c.391G>C (p.Glu131Gln)
c.388G>C (p.Glu130Gln)
c.*17G>C (n.*17G>C)
n.606G>C
c.274G>C (p.Glu92Gln)
n.653G>C
dbSNP
21g.34880638C>TCA410202633RUNX1c.427G>A (p.Glu143Lys)
c.346G>A (p.Glu116Lys)
c.391G>A (p.Glu131Lys)
c.388G>A (p.Glu130Lys)
c.*17G>A (n.*17G>A)
n.606G>A
c.274G>A (p.Glu92Lys)
n.653G>A
dbSNP
21g.34880638_34880662dupCA645607371RUNX1c.403_427dup (p.Glu143GlyfsTer3)
c.322_346dup (p.Glu116GlyfsTer3)
c.367_391dup (p.Glu131GlyfsTer3)
c.364_388dup (p.Glu130GlyfsTer3)
c.110_*17dup (n.110_*17dup)
n.582_606dup
c.250_274dup (p.Glu92GlyfsTer3)
n.629_653dup
COSMIC
21g.34880639A=CA2387294349RUNX1c.426T= (p.Ala142=)
c.345T= (p.Ala115=)
c.390T= (p.Ala130=)
c.387T= (p.Ala129=)
c.*16T= (n.*16T=)
n.605T=
c.273T= (p.Ala91=)
n.652T=
21g.34880639A>CCA512318736RUNX1c.426T>G (p.Ala142=)
c.345T>G (p.Ala115=)
c.390T>G (p.Ala130=)
c.387T>G (p.Ala129=)
c.*16T>G (n.*16T>G)
n.605T>G
c.273T>G (p.Ala91=)
n.652T>G
21g.34880639A>GCA10014518RUNX1c.426T>C (p.Ala142=)
c.345T>C (p.Ala115=)
c.390T>C (p.Ala130=)
c.387T>C (p.Ala129=)
c.*16T>C (n.*16T>C)
n.605T>C
c.273T>C (p.Ala91=)
n.652T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880639A>TCA512318737RUNX1c.426T>A (p.Ala142=)
c.345T>A (p.Ala115=)
c.390T>A (p.Ala130=)
c.387T>A (p.Ala129=)
c.*16T>A (n.*16T>A)
n.605T>A
c.273T>A (p.Ala91=)
n.652T>A
dbSNP
21g.34880641_34880645delCA2579985606RUNX1c.422_426del (p.Ser141Ter)
c.341_345del (p.Ser114Ter)
c.386_390del (p.Ser129Ter)
c.383_387del (p.Ser128Ter)
c.*12_*16del (n.*12_*16del)
n.601_605del
c.269_273del (p.Ser90Ter)
n.648_652del
21g.34880639_34880640insCCATCCCA645607372RUNX1c.425_426insGGATGG (p.Ala142_Glu143insAspGly)
c.344_345insGGATGG (p.Ala115_Glu116insAspGly)
c.389_390insGGATGG (p.Ala130_Glu131insAspGly)
c.386_387insGGATGG (p.Ala129_Glu130insAspGly)
c.*15_*16insGGATGG (n.*15_*16insGGATGG)
n.604_605insGGATGG
c.272_273insGGATGG (p.Ala91_Glu92insAspGly)
n.651_652insGGATGG
COSMIC
21g.34880640G>ACA410202637RUNX1c.425C>T (p.Ala142Val)
c.344C>T (p.Ala115Val)
c.389C>T (p.Ala130Val)
c.386C>T (p.Ala129Val)
c.*15C>T (n.*15C>T)
n.604C>T
c.272C>T (p.Ala91Val)
n.651C>T
dbSNP
21g.34880640G>CCA410202635RUNX1c.425C>G (p.Ala142Gly)
c.344C>G (p.Ala115Gly)
c.389C>G (p.Ala130Gly)
c.386C>G (p.Ala129Gly)
c.*15C>G (n.*15C>G)
n.604C>G
c.272C>G (p.Ala91Gly)
n.651C>G
dbSNP
21g.34880640G=CA2387294350RUNX1c.425C= (p.Ala142=)
c.344C= (p.Ala115=)
c.389C= (p.Ala130=)
c.386C= (p.Ala129=)
c.*15C= (n.*15C=)
n.604C=
c.272C= (p.Ala91=)
n.651C=
21g.34880640G>TCA410202636RUNX1c.425C>A (p.Ala142Asp)
c.344C>A (p.Ala115Asp)
c.389C>A (p.Ala130Asp)
c.386C>A (p.Ala129Asp)
c.*15C>A (n.*15C>A)
n.604C>A
c.272C>A (p.Ala91Asp)
n.651C>A
dbSNP COSMIC COSMIC
21g.34880640_34880642delinsAGGCA2580618079RUNX1c.423_425delinsCCT (p.Ala142Leu)
c.342_344delinsCCT (p.Ala115Leu)
c.387_389delinsCCT (p.Ala130Leu)
c.384_386delinsCCT (p.Ala129Leu)
c.*13_*15delinsCCT (n.*13_*15delinsCCT)
n.602_604delinsCCT
c.270_272delinsCCT (p.Ala91Leu)
n.649_651delinsCCT
21g.34880640_34880643dupCA645607373RUNX1c.422_425dup (p.Glu143GlyfsTer2)
c.341_344dup (p.Glu116GlyfsTer2)
c.386_389dup (p.Glu131GlyfsTer2)
c.383_386dup (p.Glu130GlyfsTer2)
c.*12_*15dup (n.*12_*15dup)
n.601_604dup
c.269_272dup (p.Glu92GlyfsTer2)
n.648_651dup
COSMIC
21g.34880640_34880641insGGGACA645607377RUNX1c.424_425insTCCC (p.Ala142ValfsTer3)
c.343_344insTCCC (p.Ala115ValfsTer3)
c.388_389insTCCC (p.Ala130ValfsTer3)
c.385_386insTCCC (p.Ala129ValfsTer3)
c.*14_*15insTCCC (n.*14_*15insTCCC)
n.603_604insTCCC
c.271_272insTCCC (p.Ala91ValfsTer3)
n.650_651insTCCC
COSMIC
21g.34880641C>ACA410202638RUNX1c.424G>T (p.Ala142Ser)
c.343G>T (p.Ala115Ser)
c.388G>T (p.Ala130Ser)
c.385G>T (p.Ala129Ser)
c.*14G>T (n.*14G>T)
n.603G>T
c.271G>T (p.Ala91Ser)
n.650G>T
dbSNP
21g.34880641C>GCA410202639RUNX1c.424G>C (p.Ala142Pro)
c.343G>C (p.Ala115Pro)
c.388G>C (p.Ala130Pro)
c.385G>C (p.Ala129Pro)
c.*14G>C (n.*14G>C)
n.603G>C
c.271G>C (p.Ala91Pro)
n.650G>C
dbSNP
21g.34880641C>TCA410202640RUNX1c.424G>A (p.Ala142Thr)
c.343G>A (p.Ala115Thr)
c.388G>A (p.Ala130Thr)
c.385G>A (p.Ala129Thr)
c.*14G>A (n.*14G>A)
n.603G>A
c.271G>A (p.Ala91Thr)
n.650G>A
dbSNP
21g.34880641_34880642insAACCCA1139771064RUNX1c.424_425insGTTG (p.Ala142GlyfsTer3)
c.343_344insGTTG (p.Ala115GlyfsTer3)
c.388_389insGTTG (p.Ala130GlyfsTer3)
c.385_386insGTTG (p.Ala129GlyfsTer3)
c.*14_*15insGTTG (n.*14_*15insGTTG)
n.603_604insGTTG
c.271_272insGTTG (p.Ala91GlyfsTer3)
n.650_651insGTTG
21g.34880641_34880642insAAATCCA645607379RUNX1c.424_425insATTTG (p.Ala142AspfsTer5)
c.343_344insATTTG (p.Ala115AspfsTer5)
c.388_389insATTTG (p.Ala130AspfsTer5)
c.385_386insATTTG (p.Ala129AspfsTer5)
c.*14_*15insATTTG (n.*14_*15insATTTG)
n.603_604insATTTG
c.271_272insATTTG (p.Ala91AspfsTer5)
n.650_651insATTTG
COSMIC
21g.34880641_34880642delCA2580618080RUNX1c.423_424del (p.Ala142Ter)
c.342_343del (p.Ala115Ter)
c.387_388del (p.Ala130Ter)
c.384_385del (p.Ala129Ter)
c.*13_*14del (n.*13_*14del)
n.602_603del
c.270_271del (p.Ala91Ter)
n.649_650del
21g.34880642_34880643insCCCCA645607376RUNX1c.424_425insGGG (p.Ser141_Ala142insGly)
c.343_344insGGG (p.Ser114_Ala115insGly)
c.388_389insGGG (p.Ser129_Ala130insGly)
c.385_386insGGG (p.Ser128_Ala129insGly)
c.*14_*15insGGG (n.*14_*15insGGG)
n.603_604insGGG
c.271_272insGGG (p.Ser90_Ala91insGly)
n.650_651insGGG
COSMIC
21g.34880642_34880643insAACCCA1139771063RUNX1c.424_425insTTGG (p.Ala142ValfsTer3)
c.343_344insTTGG (p.Ala115ValfsTer3)
c.388_389insTTGG (p.Ala130ValfsTer3)
c.385_386insTTGG (p.Ala129ValfsTer3)
c.*14_*15insTTGG (n.*14_*15insTTGG)
n.603_604insTTGG
c.271_272insTTGG (p.Ala91ValfsTer3)
n.650_651insTTGG
21g.34880642_34880643insTGCCCCCCA645607375RUNX1c.424_425insGGGCAGG (p.Ala142GlyfsTer4)
c.343_344insGGGCAGG (p.Ala115GlyfsTer4)
c.388_389insGGGCAGG (p.Ala130GlyfsTer4)
c.385_386insGGGCAGG (p.Ala129GlyfsTer4)
c.*14_*15insGGGCAGG (n.*14_*15insGGGCAGG)
n.603_604insGGGCAGG
c.271_272insGGGCAGG (p.Ala91GlyfsTer4)
n.650_651insGGGCAGG
COSMIC COSMIC
21g.34880642dupCA658824419RUNX1c.424dup (p.Ala142GlyfsTer2)
c.343dup (p.Ala115GlyfsTer2)
c.388dup (p.Ala130GlyfsTer2)
c.385dup (p.Ala129GlyfsTer2)
c.*14dup (n.*14dup)
n.603dup
c.271dup (p.Ala91GlyfsTer2)
n.650dup
ClinVar dbSNP
21g.34880641_34880642dupCA645607378RUNX1c.423_424dup (p.Ala142GlyfsTer4)
c.342_343dup (p.Ala115GlyfsTer4)
c.387_388dup (p.Ala130GlyfsTer4)
c.384_385dup (p.Ala129GlyfsTer4)
c.*13_*14dup (n.*13_*14dup)
n.602_603dup
c.270_271dup (p.Ala91GlyfsTer4)
n.649_650dup
COSMIC
21g.34880642delCA645607374RUNX1c.424del (p.Ala142LeufsTer3)
c.343del (p.Ala115LeufsTer3)
c.388del (p.Ala130LeufsTer3)
c.385del (p.Ala129LeufsTer3)
c.*14del (n.*14del)
n.603del
c.271del (p.Ala91LeufsTer3)
n.650del
ClinVar COSMIC COSMIC
21g.34880643_34880644insGGTCCGCA2573335146RUNX1c.424_425insACCCGG (p.Ser141_Ala142insAspPro)
c.343_344insACCCGG (p.Ser114_Ala115insAspPro)
c.388_389insACCCGG (p.Ser129_Ala130insAspPro)
c.385_386insACCCGG (p.Ser128_Ala129insAspPro)
c.*14_*15insACCCGG (n.*14_*15insACCCGG)
n.603_604insACCCGG
c.271_272insACCCGG (p.Ser90_Ala91insAspPro)
n.650_651insACCCGG
21g.34880641_34880642insGGCA645607384RUNX1c.423_424insCC (p.Ala142ProfsTer4)
c.342_343insCC (p.Ala115ProfsTer4)
c.387_388insCC (p.Ala130ProfsTer4)
c.384_385insCC (p.Ala129ProfsTer4)
c.*13_*14insCC (n.*13_*14insCC)
n.602_603insCC
c.270_271insCC (p.Ala91ProfsTer4)
n.649_650insCC
COSMIC COSMIC
21g.34880641_34880642insTTCA645607381RUNX1c.423_424insAA (p.Ala142LysfsTer4)
c.342_343insAA (p.Ala115LysfsTer4)
c.387_388insAA (p.Ala130LysfsTer4)
c.384_385insAA (p.Ala129LysfsTer4)
c.*13_*14insAA (n.*13_*14insAA)
n.602_603insAA
c.270_271insAA (p.Ala91LysfsTer4)
n.649_650insAA
COSMIC COSMIC
21g.34880641_34880642insGGGCA645607383RUNX1c.423_424insCCC (p.Ser141_Ala142insPro)
c.342_343insCCC (p.Ser114_Ala115insPro)
c.387_388insCCC (p.Ser129_Ala130insPro)
c.384_385insCCC (p.Ser128_Ala129insPro)
c.*13_*14insCCC (n.*13_*14insCCC)
n.602_603insCCC
c.270_271insCCC (p.Ser90_Ala91insPro)
n.649_650insCCC
COSMIC
21g.34880641_34880642insGGTTCA1139771060RUNX1c.423_424insAACC (p.Ala142AsnfsTer3)
c.342_343insAACC (p.Ala115AsnfsTer3)
c.387_388insAACC (p.Ala130AsnfsTer3)
c.384_385insAACC (p.Ala129AsnfsTer3)
c.*13_*14insAACC (n.*13_*14insAACC)
n.602_603insAACC
c.270_271insAACC (p.Ala91AsnfsTer3)
n.649_650insAACC
21g.34880641_34880642insGGAACAGACTTCTTCA645607382RUNX1c.423_424insAAGAAGTCTGTTCC (p.Ala142LysfsTer8)
c.342_343insAAGAAGTCTGTTCC (p.Ala115LysfsTer8)
c.387_388insAAGAAGTCTGTTCC (p.Ala130LysfsTer8)
c.384_385insAAGAAGTCTGTTCC (p.Ala129LysfsTer8)
c.*13_*14insAAGAAGTCTGTTCC (n.*13_*14insAAGAAGTCTGTTCC)
n.602_603insAAGAAGTCTGTTCC
c.270_271insAAGAAGTCTGTTCC (p.Ala91LysfsTer8)
n.649_650insAAGAAGTCTGTTCC
COSMIC
21g.34880642C>ACA512318738RUNX1c.423G>T (p.Ser141=)
c.342G>T (p.Ser114=)
c.387G>T (p.Ser129=)
c.384G>T (p.Ser128=)
c.*13G>T (n.*13G>T)
n.602G>T
c.270G>T (p.Ser90=)
n.649G>T
dbSNP
21g.34880642C=CA2387294351RUNX1c.423G= (p.Ser141=)
c.342G= (p.Ser114=)
c.387G= (p.Ser129=)
c.384G= (p.Ser128=)
c.*13G= (n.*13G=)
n.602G=
c.270G= (p.Ser90=)
n.649G=
21g.34880642C>GCA512318739RUNX1c.423G>C (p.Ser141=)
c.342G>C (p.Ser114=)
c.387G>C (p.Ser129=)
c.384G>C (p.Ser128=)
c.*13G>C (n.*13G>C)
n.602G>C
c.270G>C (p.Ser90=)
n.649G>C
ClinVar dbSNP
21g.34880642C>TCA10014519RUNX1c.423G>A (p.Ser141=)
c.342G>A (p.Ser114=)
c.387G>A (p.Ser129=)
c.384G>A (p.Ser128=)
c.*13G>A (n.*13G>A)
n.602G>A
c.270G>A (p.Ser90=)
n.649G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34880642delinsGGAAGGCA645607380RUNX1c.423delinsCCTTCC (p.Ala142LeufsTer5)
c.342delinsCCTTCC (p.Ala115LeufsTer5)
c.387delinsCCTTCC (p.Ala130LeufsTer5)
c.384delinsCCTTCC (p.Ala129LeufsTer5)
c.*13delinsCCTTCC (n.*13delinsCCTTCC)
n.602delinsCCTTCC
c.270delinsCCTTCC (p.Ala91LeufsTer5)
n.649delinsCCTTCC
COSMIC
21g.34880642_34880643insACA645607388RUNX1c.422_423insT (p.Ala142GlyfsTer2)
c.341_342insT (p.Ala115GlyfsTer2)
c.386_387insT (p.Ala130GlyfsTer2)
c.383_384insT (p.Ala129GlyfsTer2)
c.*12_*13insT (n.*12_*13insT)
n.601_602insT
c.269_270insT (p.Ala91GlyfsTer2)
n.648_649insT
COSMIC COSMIC
21g.34880642_34880643insAACA645607386RUNX1c.422_423insTT (p.Ala142TrpfsTer4)
c.341_342insTT (p.Ala115TrpfsTer4)
c.386_387insTT (p.Ala130TrpfsTer4)
c.383_384insTT (p.Ala129TrpfsTer4)
c.*12_*13insTT (n.*12_*13insTT)
n.601_602insTT
c.269_270insTT (p.Ala91TrpfsTer4)
n.648_649insTT
COSMIC COSMIC
21g.34880642_34880643insAGGCA645607391RUNX1c.422_423insCCT (p.Ser141_Ala142insLeu)
c.341_342insCCT (p.Ser114_Ala115insLeu)
c.386_387insCCT (p.Ser129_Ala130insLeu)
c.383_384insCCT (p.Ser128_Ala129insLeu)
c.*12_*13insCCT (n.*12_*13insCCT)
n.601_602insCCT
c.269_270insCCT (p.Ser90_Ala91insLeu)
n.648_649insCCT
COSMIC COSMIC
21g.34880642_34880643insCTTTTATTCCGATTCCCCTTGTCCGAAGGTATCA2580098645RUNX1c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142TyrfsTer14)
c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala115TyrfsTer14)
c.386_387insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala130TyrfsTer14)
c.383_384insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala129TyrfsTer14)
c.*12_*13insATACCTTCGGACAAGGGGAATCGGAATAAAAG (n.*12_*13insATACCTTCGGACAAGGGGAATCGGAATAAAAG)
n.601_602insATACCTTCGGACAAGGGGAATCGGAATAAAAG
c.269_270insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala91TyrfsTer14)
n.648_649insATACCTTCGGACAAGGGGAATCGGAATAAAAG
ClinVar
21g.34880643delCA512318740RUNX1c.422del (p.Ser141TrpfsTer4)
c.341del (p.Ser114TrpfsTer4)
c.386del (p.Ser129TrpfsTer4)
c.383del (p.Ser128TrpfsTer4)
c.*12del (n.*12del)
n.601del
c.269del (p.Ser90TrpfsTer4)
n.648del
COSMIC
21g.34880643G>ACA410202641RUNX1c.422C>T (p.Ser141Leu)
c.341C>T (p.Ser114Leu)
c.386C>T (p.Ser129Leu)
c.383C>T (p.Ser128Leu)
c.*12C>T (n.*12C>T)
n.601C>T
c.269C>T (p.Ser90Leu)
n.648C>T
ClinVar dbSNP COSMIC COSMIC
21g.34880643G>CCA410202642RUNX1c.422C>G (p.Ser141Trp)
c.341C>G (p.Ser114Trp)
c.386C>G (p.Ser129Trp)
c.383C>G (p.Ser128Trp)
c.*12C>G (n.*12C>G)
n.601C>G
c.269C>G (p.Ser90Trp)
n.648C>G
dbSNP
21g.34880643G=CA2387294352RUNX1c.422C= (p.Ser141=)
c.341C= (p.Ser114=)
c.386C= (p.Ser129=)
c.383C= (p.Ser128=)
c.*12C= (n.*12C=)
n.601C=
c.269C= (p.Ser90=)
n.648C=
21g.34880643G>TCA410202643RUNX1c.422C>A (p.Ser141Ter)
c.341C>A (p.Ser114Ter)
c.386C>A (p.Ser129Ter)
c.383C>A (p.Ser128Ter)
c.*12C>A (n.*12C>A)
n.601C>A
c.269C>A (p.Ser90Ter)
n.648C>A
ClinVar dbSNP COSMIC COSMIC
21g.34880643_34880644insCCTGCA645607390RUNX1c.422_423insAGGC (p.Ala142GlyfsTer3)
c.341_342insAGGC (p.Ala115GlyfsTer3)
c.386_387insAGGC (p.Ala130GlyfsTer3)
c.383_384insAGGC (p.Ala129GlyfsTer3)
c.*12_*13insAGGC (n.*12_*13insAGGC)
n.601_602insAGGC
c.269_270insAGGC (p.Ala91GlyfsTer3)
n.648_649insAGGC
COSMIC
21g.34880643_34880644insGTTGCA1139771069RUNX1c.422_423insAACC (p.Ala142ThrfsTer3)
c.341_342insAACC (p.Ala115ThrfsTer3)
c.386_387insAACC (p.Ala130ThrfsTer3)
c.383_384insAACC (p.Ala129ThrfsTer3)
c.*12_*13insAACC (n.*12_*13insAACC)
n.601_602insAACC
c.269_270insAACC (p.Ala91ThrfsTer3)
n.648_649insAACC
21g.34880643_34880644insGCCTGCA2573130354RUNX1c.422_423insAGGCC (p.Ala142GlyfsTer5)
c.341_342insAGGCC (p.Ala115GlyfsTer5)
c.386_387insAGGCC (p.Ala130GlyfsTer5)
c.383_384insAGGCC (p.Ala129GlyfsTer5)
c.*12_*13insAGGCC (n.*12_*13insAGGCC)
n.601_602insAGGCC
c.269_270insAGGCC (p.Ala91GlyfsTer5)
n.648_649insAGGCC
21g.34880643_34880644insGCCTTGCA658820618RUNX1c.422_423insAAGGCC (p.Ser141_Ala142insArgPro)
c.341_342insAAGGCC (p.Ser114_Ala115insArgPro)
c.386_387insAAGGCC (p.Ser129_Ala130insArgPro)
c.383_384insAAGGCC (p.Ser128_Ala129insArgPro)
c.*12_*13insAAGGCC (n.*12_*13insAAGGCC)
n.601_602insAAGGCC
c.269_270insAAGGCC (p.Ser90_Ala91insArgPro)
n.648_649insAAGGCC
21g.34880643_34880644insGTCCAGCA645607387RUNX1c.422_423insTGGACC (p.Ser141_Ala142insGlyPro)
c.341_342insTGGACC (p.Ser114_Ala115insGlyPro)
c.386_387insTGGACC (p.Ser129_Ala130insGlyPro)
c.383_384insTGGACC (p.Ser128_Ala129insGlyPro)
c.*12_*13insTGGACC (n.*12_*13insTGGACC)
n.601_602insTGGACC
c.269_270insTGGACC (p.Ser90_Ala91insGlyPro)
n.648_649insTGGACC
COSMIC COSMIC
21g.34880643dupCA645607389RUNX1c.422dup (p.Ala142GlyfsTer2)
c.341dup (p.Ala115GlyfsTer2)
c.386dup (p.Ala130GlyfsTer2)
c.383dup (p.Ala129GlyfsTer2)
c.*12dup (n.*12dup)
n.601dup
c.269dup (p.Ala91GlyfsTer2)
n.648dup
COSMIC
21g.34880643_34880644insCCA512318741RUNX1c.421_422insG (p.Ser141CysfsTer3)
c.340_341insG (p.Ser114CysfsTer3)
c.385_386insG (p.Ser129CysfsTer3)
c.382_383insG (p.Ser128CysfsTer3)
c.*11_*12insG (n.*11_*12insG)
n.600_601insG
c.268_269insG (p.Ser90CysfsTer3)
n.647_648insG
21g.34880644A=CA2387294353RUNX1c.421T= (p.Ser141=)
c.340T= (p.Ser114=)
c.385T= (p.Ser129=)
c.382T= (p.Ser128=)
c.*11T= (n.*11T=)
n.600T=
c.268T= (p.Ser90=)
n.647T=
21g.34880644A>CCA410202644RUNX1c.421T>G (p.Ser141Ala)
c.340T>G (p.Ser114Ala)
c.385T>G (p.Ser129Ala)
c.382T>G (p.Ser128Ala)
c.*11T>G (n.*11T>G)
n.600T>G
c.268T>G (p.Ser90Ala)
n.647T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34880644A>GCA410202645RUNX1c.421T>C (p.Ser141Pro)
c.340T>C (p.Ser114Pro)
c.385T>C (p.Ser129Pro)
c.382T>C (p.Ser128Pro)
c.*11T>C (n.*11T>C)
n.600T>C
c.268T>C (p.Ser90Pro)
n.647T>C
ClinVar COSMIC
21g.34880644A>TCA410202646RUNX1c.421T>A (p.Ser141Thr)
c.340T>A (p.Ser114Thr)
c.385T>A (p.Ser129Thr)
c.382T>A (p.Ser128Thr)
c.*11T>A (n.*11T>A)
n.600T>A
c.268T>A (p.Ser90Thr)
n.647T>A
dbSNP
21g.34880644_34880645insACCACA1139771062RUNX1c.421_422insGGTT (p.Ser141TrpfsTer4)
c.340_341insGGTT (p.Ser114TrpfsTer4)
c.385_386insGGTT (p.Ser129TrpfsTer4)
c.382_383insGGTT (p.Ser128TrpfsTer4)
c.*11_*12insGGTT (n.*11_*12insGGTT)
n.600_601insGGTT
c.268_269insGGTT (p.Ser90TrpfsTer4)
n.647_648insGGTT
21g.34880644_34880645insAACCCA1139771061RUNX1c.420_421insGGTT (p.Ser141GlyfsTer4)
c.339_340insGGTT (p.Ser114GlyfsTer4)
c.384_385insGGTT (p.Ser129GlyfsTer4)
c.381_382insGGTT (p.Ser128GlyfsTer4)
c.*10_*11insGGTT (n.*10_*11insGGTT)
n.599_600insGGTT
c.267_268insGGTT (p.Ser90GlyfsTer4)
n.646_647insGGTT
21g.34880645G>ACA512318742RUNX1c.420C>T (p.Tyr140=)
c.339C>T (p.Tyr113=)
c.384C>T (p.Tyr128=)
c.381C>T (p.Tyr127=)
c.*10C>T (n.*10C>T)
n.599C>T
c.267C>T (p.Tyr89=)
n.646C>T
dbSNP gnomAD v4
21g.34880645G>CCA410202647RUNX1c.420C>G (p.Tyr140Ter)
c.339C>G (p.Tyr113Ter)
c.384C>G (p.Tyr128Ter)
c.381C>G (p.Tyr127Ter)
c.*10C>G (n.*10C>G)
n.599C>G
c.267C>G (p.Tyr89Ter)
n.646C>G
dbSNP
21g.34880645G>TCA410202648RUNX1c.420C>A (p.Tyr140Ter)
c.339C>A (p.Tyr113Ter)
c.384C>A (p.Tyr128Ter)
c.381C>A (p.Tyr127Ter)
c.*10C>A (n.*10C>A)
n.599C>A
c.267C>A (p.Tyr89Ter)
n.646C>A
21g.34880645_34880646delCA645607392RUNX1c.419_420del (p.Tyr140PhefsTer3)
c.338_339del (p.Tyr113PhefsTer3)
c.383_384del (p.Tyr128PhefsTer3)
c.380_381del (p.Tyr127PhefsTer3)
c.*9_*10del (n.*9_*10del)
n.598_599del
c.266_267del (p.Tyr89PhefsTer3)
n.645_646del
COSMIC COSMIC
21g.34880645_34880646insACA2580611938RUNX1c.419_420insT (p.Ser141LeufsTer3)
c.338_339insT (p.Ser114LeufsTer3)
c.383_384insT (p.Ser129LeufsTer3)
c.380_381insT (p.Ser128LeufsTer3)
c.*9_*10insT (n.*9_*10insT)
n.598_599insT
c.266_267insT (p.Ser90LeufsTer3)
n.645_646insT
21g.34880646T>ACA410202649RUNX1c.419A>T (p.Tyr140Phe)
c.338A>T (p.Tyr113Phe)
c.383A>T (p.Tyr128Phe)
c.380A>T (p.Tyr127Phe)
c.*9A>T (n.*9A>T)
n.598A>T
c.266A>T (p.Tyr89Phe)
n.645A>T
dbSNP
21g.34880646T>CCA410202650RUNX1c.419A>G (p.Tyr140Cys)
c.338A>G (p.Tyr113Cys)
c.383A>G (p.Tyr128Cys)
c.380A>G (p.Tyr127Cys)
c.*9A>G (n.*9A>G)
n.598A>G
c.266A>G (p.Tyr89Cys)
n.645A>G
dbSNP
21g.34880646T>GCA410202651RUNX1c.419A>C (p.Tyr140Ser)
c.338A>C (p.Tyr113Ser)
c.383A>C (p.Tyr128Ser)
c.380A>C (p.Tyr127Ser)
c.*9A>C (n.*9A>C)
n.598A>C
c.266A>C (p.Tyr89Ser)
n.645A>C
dbSNP
21g.34880646T=CA2387294354RUNX1c.419A= (p.Tyr140=)
c.338A= (p.Tyr113=)
c.383A= (p.Tyr128=)
c.380A= (p.Tyr127=)
c.*9A= (n.*9A=)
n.598A=
c.266A= (p.Tyr89=)
n.645A=
21g.34880646_34880668dupCA645607393RUNX1c.397_419dup (p.Tyr140Ter)
c.316_338dup (p.Tyr113Ter)
c.361_383dup (p.Tyr128Ter)
c.358_380dup (p.Tyr127Ter)
c.104_*9dup (n.104_*9dup)
n.576_598dup
c.244_266dup (p.Tyr89Ter)
n.623_645dup
COSMIC
21g.34880647A>CCA410202652RUNX1c.418T>G (p.Tyr140Asp)
c.337T>G (p.Tyr113Asp)
c.382T>G (p.Tyr128Asp)
c.379T>G (p.Tyr127Asp)
c.*8T>G (n.*8T>G)
n.597T>G
c.265T>G (p.Tyr89Asp)
n.644T>G
21g.34880647A>GCA410202653RUNX1c.418T>C (p.Tyr140His)
c.337T>C (p.Tyr113His)
c.382T>C (p.Tyr128His)
c.379T>C (p.Tyr127His)
c.*8T>C (n.*8T>C)
n.597T>C
c.265T>C (p.Tyr89His)
n.644T>C
ClinVar
21g.34880647A>TCA410202654RUNX1c.418T>A (p.Tyr140Asn)
c.337T>A (p.Tyr113Asn)
c.382T>A (p.Tyr128Asn)
c.379T>A (p.Tyr127Asn)
c.*8T>A (n.*8T>A)
n.597T>A
c.265T>A (p.Tyr89Asn)
n.644T>A
dbSNP
21g.34880647dupCA645607394RUNX1c.418dup (p.Tyr140LeufsTer4)
c.337dup (p.Tyr113LeufsTer4)
c.382dup (p.Tyr128LeufsTer4)
c.379dup (p.Tyr127LeufsTer4)
c.*8dup (n.*8dup)
n.597dup
c.265dup (p.Tyr89LeufsTer4)
n.644dup
COSMIC
21g.34880647_34880709dupCA891842373RUNX1c.356_418dup (p.Asn139_Tyr140insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
c.275_337dup (p.Asn112_Tyr113insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
c.320_382dup (p.Asn127_Tyr128insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
c.317_379dup (p.Asn126_Tyr127insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
c.63_*8dup (n.63_*8dup)
n.535_597dup
c.203_265dup (p.Asn88_Tyr89insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn)
n.582_644dup
21g.34880648G>ACA512318743RUNX1c.417C>T (p.Asn139=)
c.336C>T (p.Asn112=)
c.381C>T (p.Asn127=)
c.378C>T (p.Asn126=)
c.*7C>T (n.*7C>T)
n.596C>T
c.264C>T (p.Asn88=)
n.643C>T
dbSNP
21g.34880648G>CCA410202655RUNX1c.417C>G (p.Asn139Lys)
c.336C>G (p.Asn112Lys)
c.381C>G (p.Asn127Lys)
c.378C>G (p.Asn126Lys)
c.*7C>G (n.*7C>G)
n.596C>G
c.264C>G (p.Asn88Lys)
n.643C>G
dbSNP COSMIC COSMIC
21g.34880648G>TCA410202656RUNX1c.417C>A (p.Asn139Lys)
c.336C>A (p.Asn112Lys)
c.381C>A (p.Asn127Lys)
c.378C>A (p.Asn126Lys)
c.*7C>A (n.*7C>A)
n.596C>A
c.264C>A (p.Asn88Lys)
n.643C>A
21g.34880648_34880660delCA2695230130RUNX1c.405_417del (p.Asn136ThrfsTer5)
c.324_336del (p.Asn109ThrfsTer5)
c.369_381del (p.Asn124ThrfsTer5)
c.366_378del (p.Asn123ThrfsTer5)
c.112_*7del (n.[c.112_*7del;Gln38TyrfsTer?])
n.584_596del
c.252_264del (p.Asn85ThrfsTer5)
n.631_643del
21g.34880649T>ACA410202657RUNX1c.416A>T (p.Asn139Ile)
c.335A>T (p.Asn112Ile)
c.380A>T (p.Asn127Ile)
c.377A>T (p.Asn126Ile)
c.*6A>T (n.*6A>T)
n.595A>T
c.263A>T (p.Asn88Ile)
n.642A>T
dbSNP
21g.34880649T>CCA410202658RUNX1c.416A>G (p.Asn139Ser)
c.335A>G (p.Asn112Ser)
c.380A>G (p.Asn127Ser)
c.377A>G (p.Asn126Ser)
c.*6A>G (n.*6A>G)
n.595A>G
c.263A>G (p.Asn88Ser)
n.642A>G
COSMIC COSMIC
21g.34880649T>GCA410202659RUNX1c.416A>C (p.Asn139Thr)
c.335A>C (p.Asn112Thr)
c.380A>C (p.Asn127Thr)
c.377A>C (p.Asn126Thr)
c.*6A>C (n.*6A>C)
n.595A>C
c.263A>C (p.Asn88Thr)
n.642A>C
COSMIC COSMIC
21g.34880652dupCA645607395RUNX1c.416dup (p.Asn139LysfsTer5)
c.335dup (p.Asn112LysfsTer5)
c.380dup (p.Asn127LysfsTer5)
c.377dup (p.Asn126LysfsTer5)
c.*6dup (n.*6dup)
n.595dup
c.263dup (p.Asn88LysfsTer5)
n.642dup
COSMIC
21g.34880652delCA2695202506RUNX1c.416del (p.Asn139ThrfsTer6)
c.335del (p.Asn112ThrfsTer6)
c.380del (p.Asn127ThrfsTer6)
c.377del (p.Asn126ThrfsTer6)
c.*6del (n.*6del)
n.595del
c.263del (p.Asn88ThrfsTer6)
n.642del
21g.34880650T>ACA410202661RUNX1c.415A>T (p.Asn139Tyr)
c.334A>T (p.Asn112Tyr)
c.379A>T (p.Asn127Tyr)
c.376A>T (p.Asn126Tyr)
c.*5A>T (n.*5A>T)
n.594A>T
c.262A>T (p.Asn88Tyr)
n.641A>T
dbSNP
21g.34880650T>CCA410202662RUNX1c.415A>G (p.Asn139Asp)
c.334A>G (p.Asn112Asp)
c.379A>G (p.Asn127Asp)
c.376A>G (p.Asn126Asp)
c.*5A>G (n.*5A>G)
n.594A>G
c.262A>G (p.Asn88Asp)
n.641A>G
ClinVar dbSNP
21g.34880650T>GCA410202660RUNX1c.415A>C (p.Asn139His)
c.334A>C (p.Asn112His)
c.379A>C (p.Asn127His)
c.376A>C (p.Asn126His)
c.*5A>C (n.*5A>C)
n.594A>C
c.262A>C (p.Asn88His)
n.641A>C
dbSNP
21g.34880651T>ACA320638000RUNX1c.414A>T (p.Glu138Asp)
c.333A>T (p.Glu111Asp)
c.378A>T (p.Glu126Asp)
c.375A>T (p.Glu125Asp)
c.*4A>T (n.*4A>T)
n.593A>T
c.261A>T (p.Glu87Asp)
n.640A>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34880651T>CCA512318744RUNX1c.414A>G (p.Glu138=)
c.333A>G (p.Glu111=)
c.378A>G (p.Glu126=)
c.375A>G (p.Glu125=)
c.*4A>G (n.*4A>G)
n.593A>G
c.261A>G (p.Glu87=)
n.640A>G
dbSNP
21g.34880651T>GCA10014520RUNX1c.414A>C (p.Glu138Asp)
c.333A>C (p.Glu111Asp)
c.378A>C (p.Glu126Asp)
c.375A>C (p.Glu125Asp)
c.*4A>C (n.*4A>C)
n.593A>C
c.261A>C (p.Glu87Asp)
n.640A>C
ClinVar dbSNP ExAC gnomAD v4
21g.34880651T=CA2387294355RUNX1c.414A= (p.Glu138=)
c.333A= (p.Glu111=)
c.378A= (p.Glu126=)
c.375A= (p.Glu125=)
c.*4A= (n.*4A=)
n.593A=
c.261A= (p.Glu87=)
n.640A=
21g.34880652T>ACA410202663RUNX1c.413A>T (p.Glu138Val)
c.332A>T (p.Glu111Val)
c.377A>T (p.Glu126Val)
c.374A>T (p.Glu125Val)
c.*3A>T (n.*3A>T)
n.592A>T
c.260A>T (p.Glu87Val)
n.639A>T
dbSNP
21g.34880652T>CCA410202664RUNX1c.413A>G (p.Glu138Gly)
c.332A>G (p.Glu111Gly)
c.377A>G (p.Glu126Gly)
c.374A>G (p.Glu125Gly)
c.*3A>G (n.*3A>G)
n.592A>G
c.260A>G (p.Glu87Gly)
n.639A>G
dbSNP COSMIC COSMIC
21g.34880652T>GCA410202665RUNX1c.413A>C (p.Glu138Ala)
c.332A>C (p.Glu111Ala)
c.377A>C (p.Glu126Ala)
c.374A>C (p.Glu125Ala)
c.*3A>C (n.*3A>C)
n.592A>C
c.260A>C (p.Glu87Ala)
n.639A>C
21g.34880653C>ACA410202668RUNX1c.412G>T (p.Glu138Ter)
c.331G>T (p.Glu111Ter)
c.376G>T (p.Glu126Ter)
c.373G>T (p.Glu125Ter)
c.*2G>T (n.*2G>T)
n.591G>T
c.259G>T (p.Glu87Ter)
n.638G>T
21g.34880653C=CA2387294356RUNX1c.412G= (p.Glu138=)
c.331G= (p.Glu111=)
c.376G= (p.Glu126=)
c.373G= (p.Glu125=)
c.*2G= (n.*2G=)
n.591G=
c.259G= (p.Glu87=)
n.638G=
21g.34880653C>GCA410202666RUNX1c.412G>C (p.Glu138Gln)
c.331G>C (p.Glu111Gln)
c.376G>C (p.Glu126Gln)
c.373G>C (p.Glu125Gln)
c.*2G>C (n.*2G>C)
n.591G>C
c.259G>C (p.Glu87Gln)
n.638G>C
dbSNP
21g.34880653C>TCA410202667RUNX1c.412G>A (p.Glu138Lys)
c.331G>A (p.Glu111Lys)
c.376G>A (p.Glu126Lys)
c.373G>A (p.Glu125Lys)
c.*2G>A (n.*2G>A)
n.591G>A
c.259G>A (p.Glu87Lys)
n.638G>A
ClinVar dbSNP COSMIC COSMIC
21g.34880654A>CCA410202669RUNX1c.411T>G (p.Asp137Glu)
c.330T>G (p.Asp110Glu)
c.375T>G (p.Asp125Glu)
c.372T>G (p.Asp124Glu)
c.*1T>G (n.*1T>G)
n.590T>G
c.258T>G (p.Asp86Glu)
n.637T>G
dbSNP
21g.34880654A>GCA512318745RUNX1c.411T>C (p.Asp137=)
c.330T>C (p.Asp110=)
c.375T>C (p.Asp125=)
c.372T>C (p.Asp124=)
c.*1T>C (n.*1T>C)
n.590T>C
c.258T>C (p.Asp86=)
n.637T>C
dbSNP
21g.34880654A>TCA410202670RUNX1c.411T>A (p.Asp137Glu)
c.330T>A (p.Asp110Glu)
c.375T>A (p.Asp125Glu)
c.372T>A (p.Asp124Glu)
c.*1T>A (n.*1T>A)
n.590T>A
c.258T>A (p.Asp86Glu)
n.637T>A
dbSNP
21g.34880654dupCA2739267616RUNX1c.411dup (p.Glu138Ter)
c.330dup (p.Glu111Ter)
c.375dup (p.Glu126Ter)
c.372dup (p.Glu125Ter)
c.*1dup (n.*1dup)
n.590dup
c.258dup (p.Glu87Ter)
n.637dup
ClinVar
21g.34880655T>ACA410202671RUNX1c.410A>T (p.Asp137Val)
c.329A>T (p.Asp110Val)
c.374A>T (p.Asp125Val)
c.371A>T (p.Asp124Val)
c.117A>T (p.Ter39Cys)
n.589A>T
c.257A>T (p.Asp86Val)
n.636A>T
dbSNP gnomAD v2 gnomAD v4
21g.34880655T>CCA410202672RUNX1c.410A>G (p.Asp137Gly)
c.329A>G (p.Asp110Gly)
c.374A>G (p.Asp125Gly)
c.371A>G (p.Asp124Gly)
c.117A>G (p.Ter39Trp)
n.589A>G
c.257A>G (p.Asp86Gly)
n.636A>G
21g.34880655T>GCA410202673RUNX1c.410A>C (p.Asp137Ala)
c.329A>C (p.Asp110Ala)
c.374A>C (p.Asp125Ala)
c.371A>C (p.Asp124Ala)
c.117A>C (p.Ter39Cys)
n.589A>C
c.257A>C (p.Asp86Ala)
n.636A>C
21g.34880655T=CA2387294357RUNX1c.410A= (p.Asp137=)
c.329A= (p.Asp110=)
c.374A= (p.Asp125=)
c.371A= (p.Asp124=)
c.117A= (p.Ter39=)
n.589A=
c.257A= (p.Asp86=)
n.636A=
21g.34880656C>ACA410202674RUNX1c.409G>T (p.Asp137Tyr)
c.328G>T (p.Asp110Tyr)
c.373G>T (p.Asp125Tyr)
c.370G>T (p.Asp124Tyr)
c.116G>T (p.Ter39Leu)
n.588G>T
c.256G>T (p.Asp86Tyr)
n.635G>T
21g.34880656C=CA2387294358RUNX1c.409G= (p.Asp137=)
c.328G= (p.Asp110=)
c.373G= (p.Asp125=)
c.370G= (p.Asp124=)
c.116G= (p.Ter39=)
n.588G=
c.256G= (p.Asp86=)
n.635G=
21g.34880656C>GCA410202675RUNX1c.409G>C (p.Asp137His)
c.328G>C (p.Asp110His)
c.373G>C (p.Asp125His)
c.370G>C (p.Asp124His)
c.116G>C (p.Ter39Ser)
n.588G>C
c.256G>C (p.Asp86His)
n.635G>C
dbSNP
21g.34880656C>TCA10014521RUNX1c.409G>A (p.Asp137Asn)
c.328G>A (p.Asp110Asn)
c.373G>A (p.Asp125Asn)
c.370G>A (p.Asp124Asn)
c.116G>A (p.Ter39=)
n.588G>A
c.256G>A (p.Asp86Asn)
n.635G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
21g.34880657A=CA2387294359RUNX1c.408T= (p.Asn136=)
c.327T= (p.Asn109=)
c.372T= (p.Asn124=)
c.369T= (p.Asn123=)
c.115T= (p.Ter39=)
n.587T=
c.255T= (p.Asn85=)
n.634T=
21g.34880657A>CCA410202676RUNX1c.408T>G (p.Asn136Lys)
c.327T>G (p.Asn109Lys)
c.372T>G (p.Asn124Lys)
c.369T>G (p.Asn123Lys)
c.115T>G (p.Ter39Gly)
n.587T>G
c.255T>G (p.Asn85Lys)
n.634T>G
dbSNP
21g.34880657A>GCA512318746RUNX1c.408T>C (p.Asn136=)
c.327T>C (p.Asn109=)
c.372T>C (p.Asn124=)
c.369T>C (p.Asn123=)
c.115T>C (p.Ter39Arg)
n.587T>C
c.255T>C (p.Asn85=)
n.634T>C
dbSNP
21g.34880657A>TCA410202677RUNX1c.408T>A (p.Asn136Lys)
c.327T>A (p.Asn109Lys)
c.372T>A (p.Asn124Lys)
c.369T>A (p.Asn123Lys)
c.115T>A (p.Ter39Arg)
n.587T>A
c.255T>A (p.Asn85Lys)
n.634T>A
ClinVar dbSNP
21g.34880658T>ACA410202678RUNX1c.407A>T (p.Asn136Ile)
c.326A>T (p.Asn109Ile)
c.371A>T (p.Asn124Ile)
c.368A>T (p.Asn123Ile)
c.114A>T (p.Gln38His)
n.586A>T
c.254A>T (p.Asn85Ile)
n.633A>T
ClinVar dbSNP
21g.34880658T>CCA410202679RUNX1c.407A>G (p.Asn136Ser)
c.326A>G (p.Asn109Ser)
c.371A>G (p.Asn124Ser)
c.368A>G (p.Asn123Ser)
c.114A>G (p.Gln38=)
n.586A>G
c.254A>G (p.Asn85Ser)
n.633A>G
21g.34880658T>GCA410202680RUNX1c.407A>C (p.Asn136Thr)
c.326A>C (p.Asn109Thr)
c.371A>C (p.Asn124Thr)
c.368A>C (p.Asn123Thr)
c.114A>C (p.Gln38His)
n.586A>C
c.254A>C (p.Asn85Thr)
n.633A>C
21g.34880658_34880659insGGTCACTCA645607396RUNX1c.407_408insGTGACCA (p.Asn136LysfsTer2)
c.326_327insGTGACCA (p.Asn109LysfsTer2)
c.371_372insGTGACCA (p.Asn124LysfsTer2)
c.368_369insGTGACCA (p.Asn123LysfsTer2)
c.114_115insGTGACCA (p.Ter39ValextTer11)
n.586_587insGTGACCA
c.254_255insGTGACCA (p.Asn85LysfsTer2)
n.633_634insGTGACCA
COSMIC
21g.34880659T>ACA410202681RUNX1c.406A>T (p.Asn136Tyr)
c.325A>T (p.Asn109Tyr)
c.370A>T (p.Asn124Tyr)
c.367A>T (p.Asn123Tyr)
c.113A>T (p.Gln38Leu)
n.585A>T
c.253A>T (p.Asn85Tyr)
n.632A>T
21g.34880659T>CCA410202682RUNX1c.406A>G (p.Asn136Asp)
c.325A>G (p.Asn109Asp)
c.370A>G (p.Asn124Asp)
c.367A>G (p.Asn123Asp)
c.113A>G (p.Gln38Arg)
n.585A>G
c.253A>G (p.Asn85Asp)
n.632A>G
21g.34880659T>GCA410202683RUNX1c.406A>C (p.Asn136His)
c.325A>C (p.Asn109His)
c.370A>C (p.Asn124His)
c.367A>C (p.Asn123His)
c.113A>C (p.Gln38Pro)
n.585A>C
c.253A>C (p.Asn85His)
n.632A>C
21g.34880660G>ACA512318749RUNX1c.405C>T (p.Gly135=)
c.324C>T (p.Gly108=)
c.369C>T (p.Gly123=)
c.366C>T (p.Gly122=)
c.112C>T (p.Gln38Ter)
n.584C>T
c.252C>T (p.Gly84=)
n.631C>T
dbSNP
21g.34880660G>CCA512318747RUNX1c.405C>G (p.Gly135=)
c.324C>G (p.Gly108=)
c.369C>G (p.Gly123=)
c.366C>G (p.Gly122=)
c.112C>G (p.Gln38Glu)
n.584C>G
c.252C>G (p.Gly84=)
n.631C>G
21g.34880660G>TCA512318748RUNX1c.405C>A (p.Gly135=)
c.324C>A (p.Gly108=)
c.369C>A (p.Gly123=)
c.366C>A (p.Gly122=)
c.112C>A (p.Gln38Lys)
n.584C>A
c.252C>A (p.Gly84=)
n.631C>A
21g.34880661C>ACA410202684RUNX1c.404G>T (p.Gly135Val)
c.323G>T (p.Gly108Val)
c.368G>T (p.Gly123Val)
c.365G>T (p.Gly122Val)
c.111G>T (p.Trp37Cys)
n.583G>T
c.251G>T (p.Gly84Val)
n.630G>T
dbSNP
21g.34880661C>GCA410202685RUNX1c.404G>C (p.Gly135Ala)
c.323G>C (p.Gly108Ala)
c.368G>C (p.Gly123Ala)
c.365G>C (p.Gly122Ala)
c.111G>C (p.Trp37Cys)
n.583G>C
c.251G>C (p.Gly84Ala)
n.630G>C
dbSNP
21g.34880661C>TCA410202686RUNX1c.404G>A (p.Gly135Asp)
c.323G>A (p.Gly108Asp)
c.368G>A (p.Gly123Asp)
c.365G>A (p.Gly122Asp)
c.111G>A (p.Trp37Ter)
n.583G>A
c.251G>A (p.Gly84Asp)
n.630G>A
dbSNP COSMIC COSMIC
21g.34880661_34880662insACA645607397RUNX1c.403_404insT (p.Gly135ValfsTer3)
c.322_323insT (p.Gly108ValfsTer3)
c.367_368insT (p.Gly123ValfsTer3)
c.364_365insT (p.Gly122ValfsTer3)
c.110_111insT (p.Trp37CysfsTer11)
n.582_583insT
c.250_251insT (p.Gly84ValfsTer3)
n.629_630insT
COSMIC COSMIC
21g.34880662C>ACA410202689RUNX1c.403G>T (p.Gly135Cys)
c.322G>T (p.Gly108Cys)
c.367G>T (p.Gly123Cys)
c.364G>T (p.Gly122Cys)
c.110G>T (p.Trp37Leu)
n.582G>T
c.250G>T (p.Gly84Cys)
n.629G>T
21g.34880662C=CA2387294360RUNX1c.403G= (p.Gly135=)
c.322G= (p.Gly108=)
c.367G= (p.Gly123=)
c.364G= (p.Gly122=)
c.110G= (p.Trp37=)
n.582G=
c.250G= (p.Gly84=)
n.629G=
21g.34880662C>GCA410202688RUNX1c.403G>C (p.Gly135Arg)
c.322G>C (p.Gly108Arg)
c.367G>C (p.Gly123Arg)
c.364G>C (p.Gly122Arg)
c.110G>C (p.Trp37Ser)
n.582G>C
c.250G>C (p.Gly84Arg)
n.629G>C
dbSNP gnomAD v2 gnomAD v4
21g.34880662C>TCA410202687RUNX1c.403G>A (p.Gly135Ser)
c.322G>A (p.Gly108Ser)
c.367G>A (p.Gly123Ser)
c.364G>A (p.Gly122Ser)
c.110G>A (p.Trp37Ter)
n.582G>A
c.250G>A (p.Gly84Ser)
n.629G>A
ClinVar dbSNP
21g.34880663A=CA2387294361RUNX1c.402T= (p.Ala134=)
c.321T= (p.Ala107=)
c.366T= (p.Ala122=)
c.363T= (p.Ala121=)
c.109T= (p.Trp37=)
n.581T=
c.249T= (p.Ala83=)
n.628T=
21g.34880663A>CCA512318750RUNX1c.402T>G (p.Ala134=)
c.321T>G (p.Ala107=)
c.366T>G (p.Ala122=)
c.363T>G (p.Ala121=)
c.109T>G (p.Trp37Gly)
n.581T>G
c.249T>G (p.Ala83=)
n.628T>G
21g.34880663A>GCA512318752RUNX1c.402T>C (p.Ala134=)
c.321T>C (p.Ala107=)
c.366T>C (p.Ala122=)
c.363T>C (p.Ala121=)
c.109T>C (p.Trp37Arg)
n.581T>C
c.249T>C (p.Ala83=)
n.628T>C
ClinVar dbSNP
21g.34880663A>TCA512318751RUNX1c.402T>A (p.Ala134=)
c.321T>A (p.Ala107=)
c.366T>A (p.Ala122=)
c.363T>A (p.Ala121=)
c.109T>A (p.Trp37Arg)
n.581T>A
c.249T>A (p.Ala83=)
n.628T>A
dbSNP
21g.34880664G>ACA410202690RUNX1c.401C>T (p.Ala134Val)
c.320C>T (p.Ala107Val)
c.365C>T (p.Ala122Val)
c.362C>T (p.Ala121Val)
c.108C>T (p.Gly36=)
n.580C>T
c.248C>T (p.Ala83Val)
n.627C>T
ClinVar dbSNP
21g.34880664G>CCA410202692RUNX1c.401C>G (p.Ala134Gly)
c.320C>G (p.Ala107Gly)
c.365C>G (p.Ala122Gly)
c.362C>G (p.Ala121Gly)
c.108C>G (p.Gly36=)
n.580C>G
c.248C>G (p.Ala83Gly)
n.627C>G
dbSNP
21g.34880664G>TCA410202691RUNX1c.401C>A (p.Ala134Asp)
c.320C>A (p.Ala107Asp)
c.365C>A (p.Ala122Asp)
c.362C>A (p.Ala121Asp)
c.108C>A (p.Gly36=)
n.580C>A
c.248C>A (p.Ala83Asp)
n.627C>A
COSMIC
21g.34880665C>ACA410202693RUNX1c.400G>T (p.Ala134Ser)
c.319G>T (p.Ala107Ser)
c.364G>T (p.Ala122Ser)
c.361G>T (p.Ala121Ser)
c.107G>T (p.Gly36Val)
n.579G>T
c.247G>T (p.Ala83Ser)
n.626G>T
dbSNP
21g.34880665C=CA2387294362RUNX1c.400G= (p.Ala134=)
c.319G= (p.Ala107=)
c.364G= (p.Ala122=)
c.361G= (p.Ala121=)
c.107G= (p.Gly36=)
n.579G=
c.247G= (p.Ala83=)
n.626G=
21g.34880665C>GCA248623RUNX1c.400G>C (p.Ala134Pro)
c.319G>C (p.Ala107Pro)
c.364G>C (p.Ala122Pro)
c.361G>C (p.Ala121Pro)
c.107G>C (p.Gly36Ala)
n.579G>C
c.247G>C (p.Ala83Pro)
n.626G>C
ClinVar dbSNP COSMIC COSMIC
21g.34880665C>TCA410202694RUNX1c.400G>A (p.Ala134Thr)
c.319G>A (p.Ala107Thr)
c.364G>A (p.Ala122Thr)
c.361G>A (p.Ala121Thr)
c.107G>A (p.Gly36Asp)
n.579G>A
c.247G>A (p.Ala83Thr)
n.626G>A
dbSNP
21g.34880666delCA512318753RUNX1c.400del (p.Ala134LeufsTer11)
c.319del (p.Ala107LeufsTer11)
c.364del (p.Ala122LeufsTer11)
c.361del (p.Ala121LeufsTer11)
c.107del (p.Gly36AlafsTer?)
n.579del
c.247del (p.Ala83LeufsTer11)
n.626del
COSMIC
21g.34880666C>ACA410202695RUNX1c.399G>T (p.Met133Ile)
c.318G>T (p.Met106Ile)
c.363G>T (p.Met121Ile)
c.360G>T (p.Met120Ile)
c.106G>T (p.Gly36Cys)
n.578G>T
c.246G>T (p.Met82Ile)
n.625G>T
21g.34880666C=CA2387294363RUNX1c.399G= (p.Met133=)
c.318G= (p.Met106=)
c.363G= (p.Met121=)
c.360G= (p.Met120=)
c.106G= (p.Gly36=)
n.578G=
c.246G= (p.Met82=)
n.625G=
21g.34880666C>GCA410202696RUNX1c.399G>C (p.Met133Ile)
c.318G>C (p.Met106Ile)
c.363G>C (p.Met121Ile)
c.360G>C (p.Met120Ile)
c.106G>C (p.Gly36Arg)
n.578G>C
c.246G>C (p.Met82Ile)
n.625G>C
21g.34880666C>TCA410202697RUNX1c.399G>A (p.Met133Ile)
c.318G>A (p.Met106Ile)
c.363G>A (p.Met121Ile)
c.360G>A (p.Met120Ile)
c.106G>A (p.Gly36Ser)
n.578G>A
c.246G>A (p.Met82Ile)
n.625G>A
dbSNP gnomAD v3 gnomAD v4
21g.34880666_34880667dupCA645607398RUNX1c.398_399dup (p.Ala134TrpfsTer12)
c.317_318dup (p.Ala107TrpfsTer12)
c.362_363dup (p.Ala122TrpfsTer12)
c.359_360dup (p.Ala121TrpfsTer12)
c.105_106dup (p.Gly36ValfsTer?)
n.577_578dup
c.245_246dup (p.Ala83TrpfsTer12)
n.624_625dup
COSMIC COSMIC
21g.34880667delCA891842374RUNX1c.398del (p.Met133ArgfsTer12)
c.317del (p.Met106ArgfsTer12)
c.362del (p.Met121ArgfsTer12)
c.359del (p.Met120ArgfsTer12)
c.105del (p.Asp35GlufsTer?)
n.577del
c.245del (p.Met82ArgfsTer12)
n.624del
21g.34880667A>CCA410202698RUNX1c.398T>G (p.Met133Arg)
c.317T>G (p.Met106Arg)
c.362T>G (p.Met121Arg)
c.359T>G (p.Met120Arg)
c.105T>G (p.Asp35Glu)
n.577T>G
c.245T>G (p.Met82Arg)
n.624T>G
dbSNP
21g.34880667A>GCA410202699RUNX1c.398T>C (p.Met133Thr)
c.317T>C (p.Met106Thr)
c.362T>C (p.Met121Thr)
c.359T>C (p.Met120Thr)
c.105T>C (p.Asp35=)
n.577T>C
c.245T>C (p.Met82Thr)
n.624T>C
21g.34880667A>TCA410202700RUNX1c.398T>A (p.Met133Lys)
c.317T>A (p.Met106Lys)
c.362T>A (p.Met121Lys)
c.359T>A (p.Met120Lys)
c.105T>A (p.Asp35Glu)
n.577T>A
c.245T>A (p.Met82Lys)
n.624T>A
dbSNP
21g.34880668T>ACA410202701RUNX1c.397A>T (p.Met133Leu)
c.316A>T (p.Met106Leu)
c.361A>T (p.Met121Leu)
c.358A>T (p.Met120Leu)
c.104A>T (p.Asp35Val)
n.576A>T
c.244A>T (p.Met82Leu)
n.623A>T
dbSNP
21g.34880668T>CCA410202702RUNX1c.397A>G (p.Met133Val)
c.316A>G (p.Met106Val)
c.361A>G (p.Met121Val)
c.358A>G (p.Met120Val)
c.104A>G (p.Asp35Gly)
n.576A>G
c.244A>G (p.Met82Val)
n.623A>G
ClinVar gnomAD v4
21g.34880668T>GCA410202703RUNX1c.397A>C (p.Met133Leu)
c.316A>C (p.Met106Leu)
c.361A>C (p.Met121Leu)
c.358A>C (p.Met120Leu)
c.104A>C (p.Asp35Ala)
n.576A>C
c.244A>C (p.Met82Leu)
n.623A>C

Number of alleles fetched