Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.34886710_34886921delCA2580611058RUNX1c.273_351+133del
c.192_270+133del
c.237_315+133del
c.234_312+133del
c.59-6208_59-5997del (n.59-6208_59-5997del)
n.452_530+133del
c.120_198+133del
n.499_577+133del
21g.34886844_34886927delCA645607417RUNX1c.270_351+2del
c.189_270+2del
c.234_315+2del
c.231_312+2del
c.59-6211_59-6128del (n.59-6211_59-6128del)
n.449_530+2del
c.117_198+2del
n.496_577+2del
COSMIC
21g.34886861_34886903dupCA2697547498RUNX1c.292_334dup (p.Leu112ProfsTer40)
c.211_253dup (p.Leu85ProfsTer40)
c.256_298dup (p.Leu100ProfsTer40)
c.253_295dup (p.Leu99ProfsTer40)
c.59-6189_59-6147dup (n.59-6189_59-6147dup)
n.471_513dup
c.139_181dup (p.Leu61ProfsTer40)
n.518_560dup
ClinVar
21g.34886876_34886883dupCA2573129731RUNX1c.314_321dup (p.Cys108ThrfsTer17)
c.233_240dup (p.Cys81ThrfsTer17)
c.278_285dup (p.Cys96ThrfsTer17)
c.275_282dup (p.Cys95ThrfsTer17)
c.59-6167_59-6160dup (n.59-6167_59-6160dup)
n.493_500dup
c.161_168dup (p.Cys57ThrfsTer17)
n.540_547dup
21g.34886881G>ACA410203522RUNX1c.313C>T (p.His105Tyr)
c.232C>T (p.His78Tyr)
c.277C>T (p.His93Tyr)
c.274C>T (p.His92Tyr)
c.59-6168C>T (n.59-6168C>T)
n.492C>T
c.160C>T (p.His54Tyr)
n.539C>T
dbSNP
21g.34886881G>CCA410203525RUNX1c.313C>G (p.His105Asp)
c.232C>G (p.His78Asp)
c.277C>G (p.His93Asp)
c.274C>G (p.His92Asp)
c.59-6168C>G (n.59-6168C>G)
n.492C>G
c.160C>G (p.His54Asp)
n.539C>G
gnomAD v4
21g.34886881G>TCA410203527RUNX1c.313C>A (p.His105Asn)
c.232C>A (p.His78Asn)
c.277C>A (p.His93Asn)
c.274C>A (p.His92Asn)
c.59-6168C>A (n.59-6168C>A)
n.492C>A
c.160C>A (p.His54Asn)
n.539C>A
21g.34886882_34886883delCA645607427RUNX1c.312_313del (p.His105LeufsTer?)
c.231_232del (p.His78LeufsTer?)
c.276_277del (p.His93LeufsTer?)
c.273_274del (p.His92LeufsTer?)
c.59-6169_59-6168del (n.59-6169_59-6168del)
n.491_492del
c.159_160del (p.His54LeufsTer?)
n.538_539del
COSMIC
21g.34886882delCA512318834RUNX1c.312del (p.His105ThrfsTer17)
c.231del (p.His78ThrfsTer17)
c.276del (p.His93ThrfsTer17)
c.273del (p.His92ThrfsTer17)
c.59-6169del (n.59-6169del)
n.491del
c.159del (p.His54ThrfsTer17)
n.538del
COSMIC
21g.34886882C>ACA512318835RUNX1c.312G>T (p.Thr104=)
c.231G>T (p.Thr77=)
c.276G>T (p.Thr92=)
c.273G>T (p.Thr91=)
c.59-6169G>T (n.59-6169G>T)
n.491G>T
c.159G>T (p.Thr53=)
n.538G>T
ClinVar dbSNP gnomAD v4
21g.34886882C=CA2387297130RUNX1c.312G= (p.Thr104=)
c.231G= (p.Thr77=)
c.276G= (p.Thr92=)
c.273G= (p.Thr91=)
c.59-6169G= (n.59-6169G=)
n.491G=
c.159G= (p.Thr53=)
n.538G=
21g.34886882C>GCA512318833RUNX1c.312G>C (p.Thr104=)
c.231G>C (p.Thr77=)
c.276G>C (p.Thr92=)
c.273G>C (p.Thr91=)
c.59-6169G>C (n.59-6169G>C)
n.491G>C
c.159G>C (p.Thr53=)
n.538G>C
dbSNP
21g.34886882C>TCA512318832RUNX1c.312G>A (p.Thr104=)
c.231G>A (p.Thr77=)
c.276G>A (p.Thr92=)
c.273G>A (p.Thr91=)
c.59-6169G>A (n.59-6169G>A)
n.491G>A
c.159G>A (p.Thr53=)
n.538G>A
dbSNP gnomAD v4
21g.34886882dupCA645607429RUNX1c.312dup (p.His105AlafsTer?)
c.231dup (p.His78AlafsTer?)
c.276dup (p.His93AlafsTer?)
c.273dup (p.His92AlafsTer?)
c.59-6169dup (n.59-6169dup)
n.491dup
c.159dup (p.His54AlafsTer?)
n.538dup
COSMIC
21g.34886883delCA2695201453RUNX1c.311del (p.Thr104SerfsTer18)
c.230del (p.Thr77SerfsTer18)
c.275del (p.Thr92SerfsTer18)
c.272del (p.Thr91SerfsTer18)
c.59-6170del (n.59-6170del)
n.490del
c.158del (p.Thr53SerfsTer18)
n.537del
ClinVar
21g.34886883G>ACA410203530RUNX1c.311C>T (p.Thr104Met)
c.230C>T (p.Thr77Met)
c.275C>T (p.Thr92Met)
c.272C>T (p.Thr91Met)
c.59-6170C>T (n.59-6170C>T)
n.490C>T
c.158C>T (p.Thr53Met)
n.537C>T
dbSNP
21g.34886883G>CCA410203532RUNX1c.311C>G (p.Thr104Arg)
c.230C>G (p.Thr77Arg)
c.275C>G (p.Thr92Arg)
c.272C>G (p.Thr91Arg)
c.59-6170C>G (n.59-6170C>G)
n.490C>G
c.158C>G (p.Thr53Arg)
n.537C>G
dbSNP
21g.34886883G>TCA410203535RUNX1c.311C>A (p.Thr104Lys)
c.230C>A (p.Thr77Lys)
c.275C>A (p.Thr92Lys)
c.272C>A (p.Thr91Lys)
c.59-6170C>A (n.59-6170C>A)
n.490C>A
c.158C>A (p.Thr53Lys)
n.537C>A
21g.34886883delinsCACA891842377RUNX1c.311delinsTG (p.Thr104MetfsTer?)
c.230delinsTG (p.Thr77MetfsTer?)
c.275delinsTG (p.Thr92MetfsTer?)
c.272delinsTG (p.Thr91MetfsTer?)
c.59-6170delinsTG (n.59-6170delinsTG)
n.490delinsTG
c.158delinsTG (p.Thr53MetfsTer?)
n.537delinsTG
21g.34886883dupCA512318836RUNX1c.311dup (p.His105AlafsTer?)
c.230dup (p.His78AlafsTer?)
c.275dup (p.His93AlafsTer?)
c.272dup (p.His92AlafsTer?)
c.59-6170dup (n.59-6170dup)
n.490dup
c.158dup (p.His54AlafsTer?)
n.537dup
21g.34886883_34886904dupCA2695202381RUNX1c.290_311dup (p.His105ProfsTer?)
c.209_230dup (p.His78ProfsTer?)
c.254_275dup (p.His93ProfsTer?)
c.251_272dup (p.His92ProfsTer?)
c.59-6191_59-6170dup (n.59-6191_59-6170dup)
n.469_490dup
c.137_158dup (p.His54ProfsTer?)
n.516_537dup
21g.34886884T>ACA410203542RUNX1c.310A>T (p.Thr104Ser)
c.229A>T (p.Thr77Ser)
c.274A>T (p.Thr92Ser)
c.271A>T (p.Thr91Ser)
c.59-6171A>T (n.59-6171A>T)
n.489A>T
c.157A>T (p.Thr53Ser)
n.536A>T
dbSNP
21g.34886884T>CCA410203539RUNX1c.310A>G (p.Thr104Ala)
c.229A>G (p.Thr77Ala)
c.274A>G (p.Thr92Ala)
c.271A>G (p.Thr91Ala)
c.59-6171A>G (n.59-6171A>G)
n.489A>G
c.157A>G (p.Thr53Ala)
n.536A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34886884T>GCA410203538RUNX1c.310A>C (p.Thr104Pro)
c.229A>C (p.Thr77Pro)
c.274A>C (p.Thr92Pro)
c.271A>C (p.Thr91Pro)
c.59-6171A>C (n.59-6171A>C)
n.489A>C
c.157A>C (p.Thr53Pro)
n.536A>C
dbSNP
21g.34886884T=CA2387297131RUNX1c.310A= (p.Thr104=)
c.229A= (p.Thr77=)
c.274A= (p.Thr92=)
c.271A= (p.Thr91=)
c.59-6171A= (n.59-6171A=)
n.489A=
c.157A= (p.Thr53=)
n.536A=
21g.34886884dupCA645607430RUNX1c.310dup (p.Thr104AsnfsTer?)
c.229dup (p.Thr77AsnfsTer?)
c.274dup (p.Thr92AsnfsTer?)
c.271dup (p.Thr91AsnfsTer?)
c.59-6171dup (n.59-6171dup)
n.489dup
c.157dup (p.Thr53AsnfsTer?)
n.536dup
COSMIC COSMIC
21g.34886885A>CCA512318838RUNX1c.309T>G (p.Pro103=)
c.228T>G (p.Pro76=)
c.273T>G (p.Pro91=)
c.270T>G (p.Pro90=)
c.59-6172T>G (n.59-6172T>G)
n.488T>G
c.156T>G (p.Pro52=)
n.535T>G
21g.34886885A>GCA512318837RUNX1c.309T>C (p.Pro103=)
c.228T>C (p.Pro76=)
c.273T>C (p.Pro91=)
c.270T>C (p.Pro90=)
c.59-6172T>C (n.59-6172T>C)
n.488T>C
c.156T>C (p.Pro52=)
n.535T>C
dbSNP gnomAD v4
21g.34886885A>TCA512318839RUNX1c.309T>A (p.Pro103=)
c.228T>A (p.Pro76=)
c.273T>A (p.Pro91=)
c.270T>A (p.Pro90=)
c.59-6172T>A (n.59-6172T>A)
n.488T>A
c.156T>A (p.Pro52=)
n.535T>A
dbSNP
21g.34886885_34886886dupCA645607431RUNX1c.308_309dup (p.Thr104LeufsTer19)
c.227_228dup (p.Thr77LeufsTer19)
c.272_273dup (p.Thr92LeufsTer19)
c.269_270dup (p.Thr91LeufsTer19)
c.59-6173_59-6172dup (n.59-6173_59-6172dup)
n.487_488dup
c.155_156dup (p.Thr53LeufsTer19)
n.534_535dup
COSMIC COSMIC
21g.34886886G>ACA410203545RUNX1c.308C>T (p.Pro103Leu)
c.227C>T (p.Pro76Leu)
c.272C>T (p.Pro91Leu)
c.269C>T (p.Pro90Leu)
c.59-6173C>T (n.59-6173C>T)
n.487C>T
c.155C>T (p.Pro52Leu)
n.534C>T
dbSNP COSMIC
21g.34886886G>CCA410203550RUNX1c.308C>G (p.Pro103Arg)
c.227C>G (p.Pro76Arg)
c.272C>G (p.Pro91Arg)
c.269C>G (p.Pro90Arg)
c.59-6173C>G (n.59-6173C>G)
n.487C>G
c.155C>G (p.Pro52Arg)
n.534C>G
gnomAD v4
21g.34886886G>TCA410203548RUNX1c.308C>A (p.Pro103His)
c.227C>A (p.Pro76His)
c.272C>A (p.Pro91His)
c.269C>A (p.Pro90His)
c.59-6173C>A (n.59-6173C>A)
n.487C>A
c.155C>A (p.Pro52His)
n.534C>A
21g.34886887dupCA913189260RUNX1c.308dup (p.Thr104TyrfsTer?)
c.227dup (p.Thr77TyrfsTer?)
c.272dup (p.Thr92TyrfsTer?)
c.269dup (p.Thr91TyrfsTer?)
c.59-6173dup (n.59-6173dup)
n.487dup
c.155dup (p.Thr53TyrfsTer?)
n.534dup
21g.34886887G>ACA410203553RUNX1c.307C>T (p.Pro103Ser)
c.226C>T (p.Pro76Ser)
c.271C>T (p.Pro91Ser)
c.268C>T (p.Pro90Ser)
c.59-6174C>T (n.59-6174C>T)
n.486C>T
c.154C>T (p.Pro52Ser)
n.533C>T
dbSNP
21g.34886887G>CCA410203556RUNX1c.307C>G (p.Pro103Ala)
c.226C>G (p.Pro76Ala)
c.271C>G (p.Pro91Ala)
c.268C>G (p.Pro90Ala)
c.59-6174C>G (n.59-6174C>G)
n.486C>G
c.154C>G (p.Pro52Ala)
n.533C>G
21g.34886887G>TCA410203559RUNX1c.307C>A (p.Pro103Thr)
c.226C>A (p.Pro76Thr)
c.271C>A (p.Pro91Thr)
c.268C>A (p.Pro90Thr)
c.59-6174C>A (n.59-6174C>A)
n.486C>A
c.154C>A (p.Pro52Thr)
n.533C>A
21g.34886890_34886892delCA645607432RUNX1c.305_307del (p.Leu102del)
c.224_226del (p.Leu75del)
c.269_271del (p.Leu90del)
c.266_268del (p.Leu89del)
c.59-6176_59-6174del (n.59-6176_59-6174del)
n.484_486del
c.152_154del (p.Leu51del)
n.531_533del
ClinVar COSMIC
21g.34886888C>ACA512318842RUNX1c.306G>T (p.Leu102=)
c.225G>T (p.Leu75=)
c.270G>T (p.Leu90=)
c.267G>T (p.Leu89=)
c.59-6175G>T (n.59-6175G>T)
n.485G>T
c.153G>T (p.Leu51=)
n.532G>T
21g.34886888C>GCA512318840RUNX1c.306G>C (p.Leu102=)
c.225G>C (p.Leu75=)
c.270G>C (p.Leu90=)
c.267G>C (p.Leu89=)
c.59-6175G>C (n.59-6175G>C)
n.485G>C
c.153G>C (p.Leu51=)
n.532G>C
dbSNP
21g.34886888C>TCA512318841RUNX1c.306G>A (p.Leu102=)
c.225G>A (p.Leu75=)
c.270G>A (p.Leu90=)
c.267G>A (p.Leu89=)
c.59-6175G>A (n.59-6175G>A)
n.485G>A
c.153G>A (p.Leu51=)
n.532G>A
dbSNP
21g.34886889A=CA2387297132RUNX1c.305T= (p.Leu102=)
c.224T= (p.Leu75=)
c.269T= (p.Leu90=)
c.266T= (p.Leu89=)
c.59-6176T= (n.59-6176T=)
n.484T=
c.152T= (p.Leu51=)
n.531T=
21g.34886889A>CCA410203560RUNX1c.305T>G (p.Leu102Arg)
c.224T>G (p.Leu75Arg)
c.269T>G (p.Leu90Arg)
c.266T>G (p.Leu89Arg)
c.59-6176T>G (n.59-6176T>G)
n.484T>G
c.152T>G (p.Leu51Arg)
n.531T>G
21g.34886889A>GCA410203561RUNX1c.305T>C (p.Leu102Pro)
c.224T>C (p.Leu75Pro)
c.269T>C (p.Leu90Pro)
c.266T>C (p.Leu89Pro)
c.59-6176T>C (n.59-6176T>C)
n.484T>C
c.152T>C (p.Leu51Pro)
n.531T>C
dbSNP
21g.34886889A>TCA410203565RUNX1c.305T>A (p.Leu102Gln)
c.224T>A (p.Leu75Gln)
c.269T>A (p.Leu90Gln)
c.266T>A (p.Leu89Gln)
c.59-6176T>A (n.59-6176T>A)
n.484T>A
c.152T>A (p.Leu51Gln)
n.531T>A
ClinVar dbSNP
21g.34886889_34886892dupCA2654380325RUNX1c.302_305dup (p.Pro103AlafsTer?)
c.221_224dup (p.Pro76AlafsTer?)
c.266_269dup (p.Pro91AlafsTer?)
c.263_266dup (p.Pro90AlafsTer?)
c.59-6179_59-6176dup (n.59-6179_59-6176dup)
n.481_484dup
c.149_152dup (p.Pro52AlafsTer?)
n.528_531dup
gnomAD v4
21g.34886890G>ACA512318843RUNX1c.304C>T (p.Leu102=)
c.223C>T (p.Leu75=)
c.268C>T (p.Leu90=)
c.265C>T (p.Leu89=)
c.59-6177C>T (n.59-6177C>T)
n.483C>T
c.151C>T (p.Leu51=)
n.530C>T
dbSNP
21g.34886890G>CCA410203567RUNX1c.304C>G (p.Leu102Val)
c.223C>G (p.Leu75Val)
c.268C>G (p.Leu90Val)
c.265C>G (p.Leu89Val)
c.59-6177C>G (n.59-6177C>G)
n.483C>G
c.151C>G (p.Leu51Val)
n.530C>G
21g.34886890G>TCA410203569RUNX1c.304C>A (p.Leu102Met)
c.223C>A (p.Leu75Met)
c.268C>A (p.Leu90Met)
c.265C>A (p.Leu89Met)
c.59-6177C>A (n.59-6177C>A)
n.483C>A
c.151C>A (p.Leu51Met)
n.530C>A
dbSNP
21g.34886891C>ACA10014552RUNX1c.303G>T (p.Val101=)
c.222G>T (p.Val74=)
c.267G>T (p.Val89=)
c.264G>T (p.Val88=)
c.59-6178G>T (n.59-6178G>T)
n.482G>T
c.150G>T (p.Val50=)
n.529G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34886891C=CA2387297133RUNX1c.303G= (p.Val101=)
c.222G= (p.Val74=)
c.267G= (p.Val89=)
c.264G= (p.Val88=)
c.59-6178G= (n.59-6178G=)
n.482G=
c.150G= (p.Val50=)
n.529G=
21g.34886891C>GCA512318844RUNX1c.303G>C (p.Val101=)
c.222G>C (p.Val74=)
c.267G>C (p.Val89=)
c.264G>C (p.Val88=)
c.59-6178G>C (n.59-6178G>C)
n.482G>C
c.150G>C (p.Val50=)
n.529G>C
dbSNP
21g.34886891C>TCA10014553RUNX1c.303G>A (p.Val101=)
c.222G>A (p.Val74=)
c.267G>A (p.Val89=)
c.264G>A (p.Val88=)
c.59-6178G>A (n.59-6178G>A)
n.482G>A
c.150G>A (p.Val50=)
n.529G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886892_34886893dupCA645607433RUNX1c.302_303dup (p.Leu102CysfsTer21)
c.221_222dup (p.Leu75CysfsTer21)
c.266_267dup (p.Leu90CysfsTer21)
c.263_264dup (p.Leu89CysfsTer21)
c.59-6179_59-6178dup (n.59-6179_59-6178dup)
n.481_482dup
c.149_150dup (p.Leu51CysfsTer21)
n.528_529dup
COSMIC COSMIC
21g.34886892A>CCA410203576RUNX1c.302T>G (p.Val101Gly)
c.221T>G (p.Val74Gly)
c.266T>G (p.Val89Gly)
c.263T>G (p.Val88Gly)
c.59-6179T>G (n.59-6179T>G)
n.481T>G
c.149T>G (p.Val50Gly)
n.528T>G
21g.34886892A>GCA410203579RUNX1c.302T>C (p.Val101Ala)
c.221T>C (p.Val74Ala)
c.266T>C (p.Val89Ala)
c.263T>C (p.Val88Ala)
c.59-6179T>C (n.59-6179T>C)
n.481T>C
c.149T>C (p.Val50Ala)
n.528T>C
21g.34886892A>TCA410203581RUNX1c.302T>A (p.Val101Glu)
c.221T>A (p.Val74Glu)
c.266T>A (p.Val89Glu)
c.263T>A (p.Val88Glu)
c.59-6179T>A (n.59-6179T>A)
n.481T>A
c.149T>A (p.Val50Glu)
n.528T>A
21g.34886893C>ACA410203584RUNX1c.301G>T (p.Val101Leu)
c.220G>T (p.Val74Leu)
c.265G>T (p.Val89Leu)
c.262G>T (p.Val88Leu)
c.59-6180G>T (n.59-6180G>T)
n.480G>T
c.148G>T (p.Val50Leu)
n.527G>T
dbSNP
21g.34886893C>GCA410203589RUNX1c.301G>C (p.Val101Leu)
c.220G>C (p.Val74Leu)
c.265G>C (p.Val89Leu)
c.262G>C (p.Val88Leu)
c.59-6180G>C (n.59-6180G>C)
n.480G>C
c.148G>C (p.Val50Leu)
n.527G>C
ClinVar dbSNP
21g.34886893C>TCA410203587RUNX1c.301G>A (p.Val101Met)
c.220G>A (p.Val74Met)
c.265G>A (p.Val89Met)
c.262G>A (p.Val88Met)
c.59-6180G>A (n.59-6180G>A)
n.480G>A
c.148G>A (p.Val50Met)
n.527G>A
ClinVar dbSNP
21g.34886894G>ACA10014554RUNX1c.300C>T (p.Ser100=)
c.219C>T (p.Ser73=)
c.264C>T (p.Ser88=)
c.261C>T (p.Ser87=)
c.59-6181C>T (n.59-6181C>T)
n.479C>T
c.147C>T (p.Ser49=)
n.526C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886894G>CCA512318845RUNX1c.300C>G (p.Ser100=)
c.219C>G (p.Ser73=)
c.264C>G (p.Ser88=)
c.261C>G (p.Ser87=)
c.59-6181C>G (n.59-6181C>G)
n.479C>G
c.147C>G (p.Ser49=)
n.526C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34886894G=CA2387297134RUNX1c.300C= (p.Ser100=)
c.219C= (p.Ser73=)
c.264C= (p.Ser88=)
c.261C= (p.Ser87=)
c.59-6181C= (n.59-6181C=)
n.479C=
c.147C= (p.Ser49=)
n.526C=
21g.34886894G>TCA512318846RUNX1c.300C>A (p.Ser100=)
c.219C>A (p.Ser73=)
c.264C>A (p.Ser88=)
c.261C>A (p.Ser87=)
c.59-6181C>A (n.59-6181C>A)
n.479C>A
c.147C>A (p.Ser49=)
n.526C>A
gnomAD v4
21g.34886895dupCA645607434RUNX1c.300dup (p.Val101ArgfsTer?)
c.219dup (p.Val74ArgfsTer?)
c.264dup (p.Val89ArgfsTer?)
c.261dup (p.Val88ArgfsTer?)
c.59-6181dup (n.59-6181dup)
n.479dup
c.147dup (p.Val50ArgfsTer?)
n.526dup
COSMIC
21g.34886894_34886905delinsGGAGCAGAGGAACA2387297135RUNX1c.289_300delinsTTCCTCTGCTCC (p.Phe97=)
c.208_219delinsTTCCTCTGCTCC (p.Phe70=)
c.253_264delinsTTCCTCTGCTCC (p.Phe85=)
c.250_261delinsTTCCTCTGCTCC (p.Phe84=)
c.59-6192_59-6181delinsTTCCTCTGCTCC (n.59-6192_59-6181delinsTTCCTCTGCTCC)
n.468_479delinsTTCCTCTGCTCC
c.136_147delinsTTCCTCTGCTCC (p.Phe46=)
n.515_526delinsTTCCTCTGCTCC
21g.34886894_34886895insCCA512318847RUNX1c.299_300insG (p.Val101ArgfsTer?)
c.218_219insG (p.Val74ArgfsTer?)
c.263_264insG (p.Val89ArgfsTer?)
c.260_261insG (p.Val88ArgfsTer?)
c.59-6182_59-6181insG (n.59-6182_59-6181insG)
n.478_479insG
c.146_147insG (p.Val50ArgfsTer?)
n.525_526insG
21g.34886894_34886895insTTGCTCCTCTGCGATCA645607436RUNX1c.299_300insATCGCAGAGGAGCAA (p.Ser100_Val101insSerGlnArgSerAsn)
c.218_219insATCGCAGAGGAGCAA (p.Ser73_Val74insSerGlnArgSerAsn)
c.263_264insATCGCAGAGGAGCAA (p.Ser88_Val89insSerGlnArgSerAsn)
c.260_261insATCGCAGAGGAGCAA (p.Ser87_Val88insSerGlnArgSerAsn)
c.59-6182_59-6181insATCGCAGAGGAGCAA (n.59-6182_59-6181insATCGCAGAGGAGCAA)
n.478_479insATCGCAGAGGAGCAA
c.146_147insATCGCAGAGGAGCAA (p.Ser49_Val50insSerGlnArgSerAsn)
n.525_526insATCGCAGAGGAGCAA
COSMIC COSMIC
21g.34886895G>ACA410203594RUNX1c.299C>T (p.Ser100Phe)
c.218C>T (p.Ser73Phe)
c.263C>T (p.Ser88Phe)
c.260C>T (p.Ser87Phe)
c.59-6182C>T (n.59-6182C>T)
n.478C>T
c.146C>T (p.Ser49Phe)
n.525C>T
dbSNP COSMIC COSMIC
21g.34886895G>CCA410203596RUNX1c.299C>G (p.Ser100Cys)
c.218C>G (p.Ser73Cys)
c.263C>G (p.Ser88Cys)
c.260C>G (p.Ser87Cys)
c.59-6182C>G (n.59-6182C>G)
n.478C>G
c.146C>G (p.Ser49Cys)
n.525C>G
gnomAD v4 COSMIC COSMIC
21g.34886895G>TCA410203599RUNX1c.299C>A (p.Ser100Tyr)
c.218C>A (p.Ser73Tyr)
c.263C>A (p.Ser88Tyr)
c.260C>A (p.Ser87Tyr)
c.59-6182C>A (n.59-6182C>A)
n.478C>A
c.146C>A (p.Ser49Tyr)
n.525C>A
gnomAD v4
21g.34886898_34886902dupCA645607435RUNX1c.295_299dup (p.Val101AlafsTer23)
c.214_218dup (p.Val74AlafsTer23)
c.259_263dup (p.Val89AlafsTer23)
c.256_260dup (p.Val88AlafsTer23)
c.59-6186_59-6182dup (n.59-6186_59-6182dup)
n.474_478dup
c.142_146dup (p.Val50AlafsTer23)
n.521_525dup
COSMIC COSMIC
21g.34886895_34886905delinsCAGCGGAAGGAGCA915952644RUNX1c.289_299delinsCTCCTTCCGCTG (p.Phe97LeufsTer?)
c.208_218delinsCTCCTTCCGCTG (p.Phe70LeufsTer?)
c.253_263delinsCTCCTTCCGCTG (p.Phe85LeufsTer?)
c.250_260delinsCTCCTTCCGCTG (p.Phe84LeufsTer?)
c.59-6192_59-6182delinsCTCCTTCCGCTG (n.59-6192_59-6182delinsCTCCTTCCGCTG)
n.468_478delinsCTCCTTCCGCTG
c.136_146delinsCTCCTTCCGCTG (p.Phe46LeufsTer?)
n.515_525delinsCTCCTTCCGCTG
ClinVar dbSNP
21g.34886896A>CCA410203602RUNX1c.298T>G (p.Ser100Ala)
c.217T>G (p.Ser73Ala)
c.262T>G (p.Ser88Ala)
c.259T>G (p.Ser87Ala)
c.59-6183T>G (n.59-6183T>G)
n.477T>G
c.145T>G (p.Ser49Ala)
n.524T>G
21g.34886896A>GCA410203604RUNX1c.298T>C (p.Ser100Pro)
c.217T>C (p.Ser73Pro)
c.262T>C (p.Ser88Pro)
c.259T>C (p.Ser87Pro)
c.59-6183T>C (n.59-6183T>C)
n.477T>C
c.145T>C (p.Ser49Pro)
n.524T>C
dbSNP
21g.34886896A>TCA410203606RUNX1c.298T>A (p.Ser100Thr)
c.217T>A (p.Ser73Thr)
c.262T>A (p.Ser88Thr)
c.259T>A (p.Ser87Thr)
c.59-6183T>A (n.59-6183T>A)
n.477T>A
c.145T>A (p.Ser49Thr)
n.524T>A
21g.34886897G>ACA512318848RUNX1c.297C>T (p.Cys99=)
c.216C>T (p.Cys72=)
c.261C>T (p.Cys87=)
c.258C>T (p.Cys86=)
c.59-6184C>T (n.59-6184C>T)
n.476C>T
c.144C>T (p.Cys48=)
n.523C>T
21g.34886897G>CCA410203608RUNX1c.297C>G (p.Cys99Trp)
c.216C>G (p.Cys72Trp)
c.261C>G (p.Cys87Trp)
c.258C>G (p.Cys86Trp)
c.59-6184C>G (n.59-6184C>G)
n.476C>G
c.144C>G (p.Cys48Trp)
n.523C>G
21g.34886897G>TCA410203609RUNX1c.297C>A (p.Cys99Ter)
c.216C>A (p.Cys72Ter)
c.261C>A (p.Cys87Ter)
c.258C>A (p.Cys86Ter)
c.59-6184C>A (n.59-6184C>A)
n.476C>A
c.144C>A (p.Cys48Ter)
n.523C>A
21g.34886897_34886898insTCTGCA645607437RUNX1c.297_298insAGAC (p.Ser100ArgfsTer?)
c.216_217insAGAC (p.Ser73ArgfsTer?)
c.261_262insAGAC (p.Ser88ArgfsTer?)
c.258_259insAGAC (p.Ser87ArgfsTer?)
c.59-6184_59-6183insAGAC (n.59-6184_59-6183insAGAC)
n.476_477insAGAC
c.144_145insAGAC (p.Ser49ArgfsTer?)
n.523_524insAGAC
COSMIC
21g.34886898C>ACA410203616RUNX1c.296G>T (p.Cys99Phe)
c.215G>T (p.Cys72Phe)
c.260G>T (p.Cys87Phe)
c.257G>T (p.Cys86Phe)
c.59-6185G>T (n.59-6185G>T)
n.475G>T
c.143G>T (p.Cys48Phe)
n.522G>T
21g.34886898C>GCA410203615RUNX1c.296G>C (p.Cys99Ser)
c.215G>C (p.Cys72Ser)
c.260G>C (p.Cys87Ser)
c.257G>C (p.Cys86Ser)
c.59-6185G>C (n.59-6185G>C)
n.475G>C
c.143G>C (p.Cys48Ser)
n.522G>C
dbSNP
21g.34886898C>TCA410203612RUNX1c.296G>A (p.Cys99Tyr)
c.215G>A (p.Cys72Tyr)
c.260G>A (p.Cys87Tyr)
c.257G>A (p.Cys86Tyr)
c.59-6185G>A (n.59-6185G>A)
n.475G>A
c.143G>A (p.Cys48Tyr)
n.522G>A
ClinVar dbSNP COSMIC
21g.34886899A>CCA410203619RUNX1c.295T>G (p.Cys99Gly)
c.214T>G (p.Cys72Gly)
c.259T>G (p.Cys87Gly)
c.256T>G (p.Cys86Gly)
c.59-6186T>G (n.59-6186T>G)
n.474T>G
c.142T>G (p.Cys48Gly)
n.521T>G
21g.34886899A>GCA410203621RUNX1c.295T>C (p.Cys99Arg)
c.214T>C (p.Cys72Arg)
c.259T>C (p.Cys87Arg)
c.256T>C (p.Cys86Arg)
c.59-6186T>C (n.59-6186T>C)
n.474T>C
c.142T>C (p.Cys48Arg)
n.521T>C
dbSNP
21g.34886899A>TCA410203624RUNX1c.295T>A (p.Cys99Ser)
c.214T>A (p.Cys72Ser)
c.259T>A (p.Cys87Ser)
c.256T>A (p.Cys86Ser)
c.59-6186T>A (n.59-6186T>A)
n.474T>A
c.142T>A (p.Cys48Ser)
n.521T>A
21g.34886900G>ACA512318849RUNX1c.294C>T (p.Leu98=)
c.213C>T (p.Leu71=)
c.258C>T (p.Leu86=)
c.255C>T (p.Leu85=)
c.59-6187C>T (n.59-6187C>T)
n.473C>T
c.141C>T (p.Leu47=)
n.520C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34886900G>CCA512318850RUNX1c.294C>G (p.Leu98=)
c.213C>G (p.Leu71=)
c.258C>G (p.Leu86=)
c.255C>G (p.Leu85=)
c.59-6187C>G (n.59-6187C>G)
n.473C>G
c.141C>G (p.Leu47=)
n.520C>G
ClinVar dbSNP
21g.34886900G=CA2387297136RUNX1c.294C= (p.Leu98=)
c.213C= (p.Leu71=)
c.258C= (p.Leu86=)
c.255C= (p.Leu85=)
c.59-6187C= (n.59-6187C=)
n.473C=
c.141C= (p.Leu47=)
n.520C=
21g.34886900G>TCA512318851RUNX1c.294C>A (p.Leu98=)
c.213C>A (p.Leu71=)
c.258C>A (p.Leu86=)
c.255C>A (p.Leu85=)
c.59-6187C>A (n.59-6187C>A)
n.473C>A
c.141C>A (p.Leu47=)
n.520C>A
21g.34886901A>CCA410203628RUNX1c.293T>G (p.Leu98Arg)
c.212T>G (p.Leu71Arg)
c.257T>G (p.Leu86Arg)
c.254T>G (p.Leu85Arg)
c.59-6188T>G (n.59-6188T>G)
n.472T>G
c.140T>G (p.Leu47Arg)
n.519T>G
21g.34886901A>GCA410203630RUNX1c.293T>C (p.Leu98Pro)
c.212T>C (p.Leu71Pro)
c.257T>C (p.Leu86Pro)
c.254T>C (p.Leu85Pro)
c.59-6188T>C (n.59-6188T>C)
n.472T>C
c.140T>C (p.Leu47Pro)
n.519T>C
21g.34886901A>TCA410203637RUNX1c.293T>A (p.Leu98His)
c.212T>A (p.Leu71His)
c.257T>A (p.Leu86His)
c.254T>A (p.Leu85His)
c.59-6188T>A (n.59-6188T>A)
n.472T>A
c.140T>A (p.Leu47His)
n.519T>A
21g.34886901_34886902delinsAGCA2387297137RUNX1c.292_293delinsCT (p.Leu98=)
c.211_212delinsCT (p.Leu71=)
c.256_257delinsCT (p.Leu86=)
c.253_254delinsCT (p.Leu85=)
c.59-6189_59-6188delinsCT (n.59-6189_59-6188delinsCT)
n.471_472delinsCT
c.139_140delinsCT (p.Leu47=)
n.518_519delinsCT
21g.34886902G>ACA410203650RUNX1c.292C>T (p.Leu98Phe)
c.211C>T (p.Leu71Phe)
c.256C>T (p.Leu86Phe)
c.253C>T (p.Leu85Phe)
c.59-6189C>T (n.59-6189C>T)
n.471C>T
c.139C>T (p.Leu47Phe)
n.518C>T
dbSNP
21g.34886902G>CCA410203640RUNX1c.292C>G (p.Leu98Val)
c.211C>G (p.Leu71Val)
c.256C>G (p.Leu86Val)
c.253C>G (p.Leu85Val)
c.59-6189C>G (n.59-6189C>G)
n.471C>G
c.139C>G (p.Leu47Val)
n.518C>G
21g.34886902G=CA2387297138RUNX1c.292C= (p.Leu98=)
c.211C= (p.Leu71=)
c.256C= (p.Leu86=)
c.253C= (p.Leu85=)
c.59-6189C= (n.59-6189C=)
n.471C=
c.139C= (p.Leu47=)
n.518C=
21g.34886902G>TCA410203643RUNX1c.292C>A (p.Leu98Ile)
c.211C>A (p.Leu71Ile)
c.256C>A (p.Leu86Ile)
c.253C>A (p.Leu85Ile)
c.59-6189C>A (n.59-6189C>A)
n.471C>A
c.139C>A (p.Leu47Ile)
n.518C>A
dbSNP gnomAD v2
21g.34886903delCA512318852RUNX1c.292del (p.Leu98SerfsTer24)
c.211del (p.Leu71SerfsTer24)
c.256del (p.Leu86SerfsTer24)
c.253del (p.Leu85SerfsTer24)
c.59-6189del (n.59-6189del)
n.471del
c.139del (p.Leu47SerfsTer24)
n.518del
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
21g.34886902_34886903insTCA645607439RUNX1c.291_292insA (p.Leu98ThrfsTer?)
c.210_211insA (p.Leu71ThrfsTer?)
c.255_256insA (p.Leu86ThrfsTer?)
c.252_253insA (p.Leu85ThrfsTer?)
c.59-6190_59-6189insA (n.59-6190_59-6189insA)
n.470_471insA
c.138_139insA (p.Leu47ThrfsTer?)
n.517_518insA
COSMIC
21g.34886903G>ACA512318853RUNX1c.291C>T (p.Phe97=)
c.210C>T (p.Phe70=)
c.255C>T (p.Phe85=)
c.252C>T (p.Phe84=)
c.59-6190C>T (n.59-6190C>T)
n.470C>T
c.138C>T (p.Phe46=)
n.517C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34886903G>CCA410203651RUNX1c.291C>G (p.Phe97Leu)
c.210C>G (p.Phe70Leu)
c.255C>G (p.Phe85Leu)
c.252C>G (p.Phe84Leu)
c.59-6190C>G (n.59-6190C>G)
n.470C>G
c.138C>G (p.Phe46Leu)
n.517C>G
21g.34886903G=CA2387297139RUNX1c.291C= (p.Phe97=)
c.210C= (p.Phe70=)
c.255C= (p.Phe85=)
c.252C= (p.Phe84=)
c.59-6190C= (n.59-6190C=)
n.470C=
c.138C= (p.Phe46=)
n.517C=
21g.34886903G>TCA410203652RUNX1c.291C>A (p.Phe97Leu)
c.210C>A (p.Phe70Leu)
c.255C>A (p.Phe85Leu)
c.252C>A (p.Phe84Leu)
c.59-6190C>A (n.59-6190C>A)
n.470C>A
c.138C>A (p.Phe46Leu)
n.517C>A
dbSNP gnomAD v2
21g.34886903_34886904insCGCA645607438RUNX1c.291_292insGC (p.Leu98AlafsTer25)
c.210_211insGC (p.Leu71AlafsTer25)
c.255_256insGC (p.Leu86AlafsTer25)
c.252_253insGC (p.Leu85AlafsTer25)
c.59-6190_59-6189insGC (n.59-6190_59-6189insGC)
n.470_471insGC
c.138_139insGC (p.Leu47AlafsTer25)
n.517_518insGC
COSMIC COSMIC
21g.34886904_34886906dupCA2695202410RUNX1c.289_291dup (p.Phe97_Leu98insPhe)
c.208_210dup (p.Phe70_Leu71insPhe)
c.253_255dup (p.Phe85_Leu86insPhe)
c.250_252dup (p.Phe84_Leu85insPhe)
c.59-6192_59-6190dup (n.59-6192_59-6190dup)
n.468_470dup
c.136_138dup (p.Phe46_Leu47insPhe)
n.515_517dup
21g.34886904A>CCA410203653RUNX1c.290T>G (p.Phe97Cys)
c.209T>G (p.Phe70Cys)
c.254T>G (p.Phe85Cys)
c.251T>G (p.Phe84Cys)
c.59-6191T>G (n.59-6191T>G)
n.469T>G
c.137T>G (p.Phe46Cys)
n.516T>G
21g.34886904A>GCA410203654RUNX1c.290T>C (p.Phe97Ser)
c.209T>C (p.Phe70Ser)
c.254T>C (p.Phe85Ser)
c.251T>C (p.Phe84Ser)
c.59-6191T>C (n.59-6191T>C)
n.469T>C
c.137T>C (p.Phe46Ser)
n.516T>C
COSMIC
21g.34886904A>TCA410203656RUNX1c.290T>A (p.Phe97Tyr)
c.209T>A (p.Phe70Tyr)
c.254T>A (p.Phe85Tyr)
c.251T>A (p.Phe84Tyr)
c.59-6191T>A (n.59-6191T>A)
n.469T>A
c.137T>A (p.Phe46Tyr)
n.516T>A
21g.34886905A>CCA410203658RUNX1c.289T>G (p.Phe97Val)
c.208T>G (p.Phe70Val)
c.253T>G (p.Phe85Val)
c.250T>G (p.Phe84Val)
c.59-6192T>G (n.59-6192T>G)
n.468T>G
c.136T>G (p.Phe46Val)
n.515T>G
21g.34886905A>GCA410203662RUNX1c.289T>C (p.Phe97Leu)
c.208T>C (p.Phe70Leu)
c.253T>C (p.Phe85Leu)
c.250T>C (p.Phe84Leu)
c.59-6192T>C (n.59-6192T>C)
n.468T>C
c.136T>C (p.Phe46Leu)
n.515T>C
dbSNP
21g.34886905A>TCA410203659RUNX1c.289T>A (p.Phe97Ile)
c.208T>A (p.Phe70Ile)
c.253T>A (p.Phe85Ile)
c.250T>A (p.Phe84Ile)
c.59-6192T>A (n.59-6192T>A)
n.468T>A
c.136T>A (p.Phe46Ile)
n.515T>A
dbSNP
21g.34886906G>ACA512318854RUNX1c.288C>T (p.Asn96=)
c.207C>T (p.Asn69=)
c.252C>T (p.Asn84=)
c.249C>T (p.Asn83=)
c.59-6193C>T (n.59-6193C>T)
n.467C>T
c.135C>T (p.Asn45=)
n.514C>T
gnomAD v4
21g.34886906G>CCA410203665RUNX1c.288C>G (p.Asn96Lys)
c.207C>G (p.Asn69Lys)
c.252C>G (p.Asn84Lys)
c.249C>G (p.Asn83Lys)
c.59-6193C>G (n.59-6193C>G)
n.467C>G
c.135C>G (p.Asn45Lys)
n.514C>G
21g.34886906G>TCA410203667RUNX1c.288C>A (p.Asn96Lys)
c.207C>A (p.Asn69Lys)
c.252C>A (p.Asn84Lys)
c.249C>A (p.Asn83Lys)
c.59-6193C>A (n.59-6193C>A)
n.467C>A
c.135C>A (p.Asn45Lys)
n.514C>A
21g.34886907T>ACA410203669RUNX1c.287A>T (p.Asn96Ile)
c.206A>T (p.Asn69Ile)
c.251A>T (p.Asn84Ile)
c.248A>T (p.Asn83Ile)
c.59-6194A>T (n.59-6194A>T)
n.466A>T
c.134A>T (p.Asn45Ile)
n.513A>T
dbSNP
21g.34886907T>CCA10014555RUNX1c.287A>G (p.Asn96Ser)
c.206A>G (p.Asn69Ser)
c.251A>G (p.Asn84Ser)
c.248A>G (p.Asn83Ser)
c.59-6194A>G (n.59-6194A>G)
n.466A>G
c.134A>G (p.Asn45Ser)
n.513A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.34886907T>GCA410203671RUNX1c.287A>C (p.Asn96Thr)
c.206A>C (p.Asn69Thr)
c.251A>C (p.Asn84Thr)
c.248A>C (p.Asn83Thr)
c.59-6194A>C (n.59-6194A>C)
n.466A>C
c.134A>C (p.Asn45Thr)
n.513A>C
dbSNP
21g.34886907T=CA2387297140RUNX1c.287A= (p.Asn96=)
c.206A= (p.Asn69=)
c.251A= (p.Asn84=)
c.248A= (p.Asn83=)
c.59-6194A= (n.59-6194A=)
n.466A=
c.134A= (p.Asn45=)
n.513A=
21g.34886908dupCA645607440RUNX1c.287dup (p.Asn96LysfsTer?)
c.206dup (p.Asn69LysfsTer?)
c.251dup (p.Asn84LysfsTer?)
c.248dup (p.Asn83LysfsTer?)
c.59-6194dup (n.59-6194dup)
n.466dup
c.134dup (p.Asn45LysfsTer?)
n.513dup
COSMIC
21g.34886908delCA2737784478RUNX1c.287del (p.Asn96ThrfsTer26)
c.206del (p.Asn69ThrfsTer26)
c.251del (p.Asn84ThrfsTer26)
c.248del (p.Asn83ThrfsTer26)
c.59-6194del (n.59-6194del)
n.466del
c.134del (p.Asn45ThrfsTer26)
n.513del
dbSNP
21g.34886907_34886908insACA512318855RUNX1c.286_287insT (p.Asn96IlefsTer?)
c.205_206insT (p.Asn69IlefsTer?)
c.250_251insT (p.Asn84IlefsTer?)
c.247_248insT (p.Asn83IlefsTer?)
c.59-6195_59-6194insT (n.59-6195_59-6194insT)
n.465_466insT
c.133_134insT (p.Asn45IlefsTer?)
n.512_513insT
21g.34886908T>ACA410203672RUNX1c.286A>T (p.Asn96Tyr)
c.205A>T (p.Asn69Tyr)
c.250A>T (p.Asn84Tyr)
c.247A>T (p.Asn83Tyr)
c.59-6195A>T (n.59-6195A>T)
n.465A>T
c.133A>T (p.Asn45Tyr)
n.512A>T
21g.34886908T>CCA410203673RUNX1c.286A>G (p.Asn96Asp)
c.205A>G (p.Asn69Asp)
c.250A>G (p.Asn84Asp)
c.247A>G (p.Asn83Asp)
c.59-6195A>G (n.59-6195A>G)
n.465A>G
c.133A>G (p.Asn45Asp)
n.512A>G
21g.34886908T>GCA410203674RUNX1c.286A>C (p.Asn96His)
c.205A>C (p.Asn69His)
c.250A>C (p.Asn84His)
c.247A>C (p.Asn83His)
c.59-6195A>C (n.59-6195A>C)
n.465A>C
c.133A>C (p.Asn45His)
n.512A>C
21g.34886909G>ACA512318858RUNX1c.285C>T (p.Pro95=)
c.204C>T (p.Pro68=)
c.249C>T (p.Pro83=)
c.246C>T (p.Pro82=)
c.59-6196C>T (n.59-6196C>T)
n.464C>T
c.132C>T (p.Pro44=)
n.511C>T
dbSNP
21g.34886909G>CCA512318857RUNX1c.285C>G (p.Pro95=)
c.204C>G (p.Pro68=)
c.249C>G (p.Pro83=)
c.246C>G (p.Pro82=)
c.59-6196C>G (n.59-6196C>G)
n.464C>G
c.132C>G (p.Pro44=)
n.511C>G
21g.34886909G>TCA512318856RUNX1c.285C>A (p.Pro95=)
c.204C>A (p.Pro68=)
c.249C>A (p.Pro83=)
c.246C>A (p.Pro82=)
c.59-6196C>A (n.59-6196C>A)
n.464C>A
c.132C>A (p.Pro44=)
n.511C>A
dbSNP
21g.34886909_34886910insTTGGCA645607441RUNX1c.285_286insCAAC (p.Asn96GlnfsTer?)
c.204_205insCAAC (p.Asn69GlnfsTer?)
c.249_250insCAAC (p.Asn84GlnfsTer?)
c.246_247insCAAC (p.Asn83GlnfsTer?)
c.59-6196_59-6195insCAAC (n.59-6196_59-6195insCAAC)
n.464_465insCAAC
c.132_133insCAAC (p.Asn45GlnfsTer?)
n.511_512insCAAC
COSMIC
21g.34886912delCA2580098637RUNX1c.285del (p.Asn96ThrfsTer26)
c.204del (p.Asn69ThrfsTer26)
c.249del (p.Asn84ThrfsTer26)
c.246del (p.Asn83ThrfsTer26)
c.59-6196del (n.59-6196del)
n.464del
c.132del (p.Asn45ThrfsTer26)
n.511del
ClinVar
21g.34886909_34886913dupCA2577483764RUNX1c.281_285dup (p.Asn96AlafsTer28)
c.200_204dup (p.Asn69AlafsTer28)
c.245_249dup (p.Asn84AlafsTer28)
c.242_246dup (p.Asn83AlafsTer28)
c.59-6200_59-6196dup (n.59-6200_59-6196dup)
n.460_464dup
c.128_132dup (p.Asn45AlafsTer28)
n.507_511dup
21g.34886915_34886916insACCCGGGGCTGCA2695202537RUNX1c.285_286insGGGTCAGCCCC (p.Asn96GlyfsTer30)
c.204_205insGGGTCAGCCCC (p.Asn69GlyfsTer30)
c.249_250insGGGTCAGCCCC (p.Asn84GlyfsTer30)
c.246_247insGGGTCAGCCCC (p.Asn83GlyfsTer30)
c.59-6196_59-6195insGGGTCAGCCCC (n.59-6196_59-6195insGGGTCAGCCCC)
n.464_465insGGGTCAGCCCC
c.132_133insGGGTCAGCCCC (p.Asn45GlyfsTer30)
n.511_512insGGGTCAGCCCC
21g.34886909_34886910insCCACA645607442RUNX1c.284_285insTGG (p.Pro95_Asn96insGly)
c.203_204insTGG (p.Pro68_Asn69insGly)
c.248_249insTGG (p.Pro83_Asn84insGly)
c.245_246insTGG (p.Pro82_Asn83insGly)
c.59-6197_59-6196insTGG (n.59-6197_59-6196insTGG)
n.463_464insTGG
c.131_132insTGG (p.Pro44_Asn45insGly)
n.510_511insTGG
COSMIC
21g.34886910G>ACA410203676RUNX1c.284C>T (p.Pro95Leu)
c.203C>T (p.Pro68Leu)
c.248C>T (p.Pro83Leu)
c.245C>T (p.Pro82Leu)
c.59-6197C>T (n.59-6197C>T)
n.463C>T
c.131C>T (p.Pro44Leu)
n.510C>T
ClinVar dbSNP
21g.34886910G>CCA410203678RUNX1c.284C>G (p.Pro95Arg)
c.203C>G (p.Pro68Arg)
c.248C>G (p.Pro83Arg)
c.245C>G (p.Pro82Arg)
c.59-6197C>G (n.59-6197C>G)
n.463C>G
c.131C>G (p.Pro44Arg)
n.510C>G
21g.34886910G=CA2387297141RUNX1c.284C= (p.Pro95=)
c.203C= (p.Pro68=)
c.248C= (p.Pro83=)
c.245C= (p.Pro82=)
c.59-6197C= (n.59-6197C=)
n.463C=
c.131C= (p.Pro44=)
n.510C=
21g.34886910G>TCA410203679RUNX1c.284C>A (p.Pro95His)
c.203C>A (p.Pro68His)
c.248C>A (p.Pro83His)
c.245C>A (p.Pro82His)
c.59-6197C>A (n.59-6197C>A)
n.463C>A
c.131C>A (p.Pro44His)
n.510C>A
21g.34886911G>ACA410203686RUNX1c.283C>T (p.Pro95Ser)
c.202C>T (p.Pro68Ser)
c.247C>T (p.Pro83Ser)
c.244C>T (p.Pro82Ser)
c.59-6198C>T (n.59-6198C>T)
n.462C>T
c.130C>T (p.Pro44Ser)
n.509C>T
ClinVar dbSNP
21g.34886911G>CCA410203683RUNX1c.283C>G (p.Pro95Ala)
c.202C>G (p.Pro68Ala)
c.247C>G (p.Pro83Ala)
c.244C>G (p.Pro82Ala)
c.59-6198C>G (n.59-6198C>G)
n.462C>G
c.130C>G (p.Pro44Ala)
n.509C>G
21g.34886911G=CA2387297142RUNX1c.283C= (p.Pro95=)
c.202C= (p.Pro68=)
c.247C= (p.Pro83=)
c.244C= (p.Pro82=)
c.59-6198C= (n.59-6198C=)
n.462C=
c.130C= (p.Pro44=)
n.509C=
21g.34886911G>TCA410203681RUNX1c.283C>A (p.Pro95Thr)
c.202C>A (p.Pro68Thr)
c.247C>A (p.Pro83Thr)
c.244C>A (p.Pro82Thr)
c.59-6198C>A (n.59-6198C>A)
n.462C>A
c.130C>A (p.Pro44Thr)
n.509C>A
21g.34886912G>ACA512318859RUNX1c.282C>T (p.Ser94=)
c.201C>T (p.Ser67=)
c.246C>T (p.Ser82=)
c.243C>T (p.Ser81=)
c.59-6199C>T (n.59-6199C>T)
n.461C>T
c.129C>T (p.Ser43=)
n.508C>T
dbSNP gnomAD v4
21g.34886912G>CCA410203689RUNX1c.282C>G (p.Ser94Arg)
c.201C>G (p.Ser67Arg)
c.246C>G (p.Ser82Arg)
c.243C>G (p.Ser81Arg)
c.59-6199C>G (n.59-6199C>G)
n.461C>G
c.129C>G (p.Ser43Arg)
n.508C>G
dbSNP
21g.34886912G>TCA410203687RUNX1c.282C>A (p.Ser94Arg)
c.201C>A (p.Ser67Arg)
c.246C>A (p.Ser82Arg)
c.243C>A (p.Ser81Arg)
c.59-6199C>A (n.59-6199C>A)
n.461C>A
c.129C>A (p.Ser43Arg)
n.508C>A
21g.34886913C>ACA410203692RUNX1c.281G>T (p.Ser94Ile)
c.200G>T (p.Ser67Ile)
c.245G>T (p.Ser82Ile)
c.242G>T (p.Ser81Ile)
c.59-6200G>T (n.59-6200G>T)
n.460G>T
c.128G>T (p.Ser43Ile)
n.507G>T
dbSNP COSMIC
21g.34886913C>GCA410203693RUNX1c.281G>C (p.Ser94Thr)
c.200G>C (p.Ser67Thr)
c.245G>C (p.Ser82Thr)
c.242G>C (p.Ser81Thr)
c.59-6200G>C (n.59-6200G>C)
n.460G>C
c.128G>C (p.Ser43Thr)
n.507G>C
ClinVar dbSNP
21g.34886913C>TCA410203694RUNX1c.281G>A (p.Ser94Asn)
c.200G>A (p.Ser67Asn)
c.245G>A (p.Ser82Asn)
c.242G>A (p.Ser81Asn)
c.59-6200G>A (n.59-6200G>A)
n.460G>A
c.128G>A (p.Ser43Asn)
n.507G>A
21g.34886914T>ACA410203697RUNX1c.280A>T (p.Ser94Cys)
c.199A>T (p.Ser67Cys)
c.244A>T (p.Ser82Cys)
c.241A>T (p.Ser81Cys)
c.59-6201A>T (n.59-6201A>T)
n.459A>T
c.127A>T (p.Ser43Cys)
n.506A>T
21g.34886914T>CCA410203699RUNX1c.280A>G (p.Ser94Gly)
c.199A>G (p.Ser67Gly)
c.244A>G (p.Ser82Gly)
c.241A>G (p.Ser81Gly)
c.59-6201A>G (n.59-6201A>G)
n.459A>G
c.127A>G (p.Ser43Gly)
n.506A>G
21g.34886914T>GCA16608536RUNX1c.280A>C (p.Ser94Arg)
c.199A>C (p.Ser67Arg)
c.244A>C (p.Ser82Arg)
c.241A>C (p.Ser81Arg)
c.59-6201A>C (n.59-6201A>C)
n.459A>C
c.127A>C (p.Ser43Arg)
n.506A>C
ClinVar dbSNP
21g.34886914T=CA2387297143RUNX1c.280A= (p.Ser94=)
c.199A= (p.Ser67=)
c.244A= (p.Ser82=)
c.241A= (p.Ser81=)
c.59-6201A= (n.59-6201A=)
n.459A=
c.127A= (p.Ser43=)
n.506A=
21g.34886914dupCA645607443RUNX1c.280dup (p.Ser94LysfsTer?)
c.199dup (p.Ser67LysfsTer?)
c.244dup (p.Ser82LysfsTer?)
c.241dup (p.Ser81LysfsTer?)
c.59-6201dup (n.59-6201dup)
n.459dup
c.127dup (p.Ser43LysfsTer?)
n.506dup
COSMIC COSMIC
21g.34886915G>ACA512318860RUNX1c.279C>T (p.Asp93=)
c.198C>T (p.Asp66=)
c.243C>T (p.Asp81=)
c.240C>T (p.Asp80=)
c.59-6202C>T (n.59-6202C>T)
n.458C>T
c.126C>T (p.Asp42=)
n.505C>T
dbSNP
21g.34886915G>CCA410203704RUNX1c.279C>G (p.Asp93Glu)
c.198C>G (p.Asp66Glu)
c.243C>G (p.Asp81Glu)
c.240C>G (p.Asp80Glu)
c.59-6202C>G (n.59-6202C>G)
n.458C>G
c.126C>G (p.Asp42Glu)
n.505C>G
21g.34886915G>TCA410203702RUNX1c.279C>A (p.Asp93Glu)
c.198C>A (p.Asp66Glu)
c.243C>A (p.Asp81Glu)
c.240C>A (p.Asp80Glu)
c.59-6202C>A (n.59-6202C>A)
n.458C>A
c.126C>A (p.Asp42Glu)
n.505C>A
21g.34886916T>ACA410203705RUNX1c.278A>T (p.Asp93Val)
c.197A>T (p.Asp66Val)
c.242A>T (p.Asp81Val)
c.239A>T (p.Asp80Val)
c.59-6203A>T (n.59-6203A>T)
n.457A>T
c.125A>T (p.Asp42Val)
n.504A>T
dbSNP
21g.34886916T>CCA410203707RUNX1c.278A>G (p.Asp93Gly)
c.197A>G (p.Asp66Gly)
c.242A>G (p.Asp81Gly)
c.239A>G (p.Asp80Gly)
c.59-6203A>G (n.59-6203A>G)
n.457A>G
c.125A>G (p.Asp42Gly)
n.504A>G
ClinVar dbSNP
21g.34886916T>GCA410203709RUNX1c.278A>C (p.Asp93Ala)
c.197A>C (p.Asp66Ala)
c.242A>C (p.Asp81Ala)
c.239A>C (p.Asp80Ala)
c.59-6203A>C (n.59-6203A>C)
n.457A>C
c.125A>C (p.Asp42Ala)
n.504A>C
dbSNP
21g.34886917C>ACA10014556RUNX1c.277G>T (p.Asp93Tyr)
c.196G>T (p.Asp66Tyr)
c.241G>T (p.Asp81Tyr)
c.238G>T (p.Asp80Tyr)
c.59-6204G>T (n.59-6204G>T)
n.456G>T
c.124G>T (p.Asp42Tyr)
n.503G>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
21g.34886917C=CA2387297144RUNX1c.277G= (p.Asp93=)
c.196G= (p.Asp66=)
c.241G= (p.Asp81=)
c.238G= (p.Asp80=)
c.59-6204G= (n.59-6204G=)
n.456G=
c.124G= (p.Asp42=)
n.503G=
21g.34886917C>GCA410203711RUNX1c.277G>C (p.Asp93His)
c.196G>C (p.Asp66His)
c.241G>C (p.Asp81His)
c.238G>C (p.Asp80His)
c.59-6204G>C (n.59-6204G>C)
n.456G>C
c.124G>C (p.Asp42His)
n.503G>C
dbSNP
21g.34886917C>TCA410203714RUNX1c.277G>A (p.Asp93Asn)
c.196G>A (p.Asp66Asn)
c.241G>A (p.Asp81Asn)
c.238G>A (p.Asp80Asn)
c.59-6204G>A (n.59-6204G>A)
n.456G>A
c.124G>A (p.Asp42Asn)
n.503G>A
dbSNP gnomAD v2
21g.34886917dupCA891842378RUNX1c.277dup (p.Asp93GlyfsTer?)
c.196dup (p.Asp66GlyfsTer?)
c.241dup (p.Asp81GlyfsTer?)
c.238dup (p.Asp80GlyfsTer?)
c.59-6204dup (n.59-6204dup)
n.456dup
c.124dup (p.Asp42GlyfsTer?)
n.503dup
21g.34886918G>ACA10014557RUNX1c.276C>T (p.Thr92=)
c.195C>T (p.Thr65=)
c.240C>T (p.Thr80=)
c.237C>T (p.Thr79=)
c.59-6205C>T (n.59-6205C>T)
n.455C>T
c.123C>T (p.Thr41=)
n.502C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34886918G>CCA512318862RUNX1c.276C>G (p.Thr92=)
c.195C>G (p.Thr65=)
c.240C>G (p.Thr80=)
c.237C>G (p.Thr79=)
c.59-6205C>G (n.59-6205C>G)
n.455C>G
c.123C>G (p.Thr41=)
n.502C>G
gnomAD v4
21g.34886918G=CA2387297145RUNX1c.276C= (p.Thr92=)
c.195C= (p.Thr65=)
c.240C= (p.Thr80=)
c.237C= (p.Thr79=)
c.59-6205C= (n.59-6205C=)
n.455C=
c.123C= (p.Thr41=)
n.502C=
21g.34886918G>TCA512318863RUNX1c.276C>A (p.Thr92=)
c.195C>A (p.Thr65=)
c.240C>A (p.Thr80=)
c.237C>A (p.Thr79=)
c.59-6205C>A (n.59-6205C>A)
n.455C>A
c.123C>A (p.Thr41=)
n.502C>A
21g.34886919G>ACA410203718RUNX1c.275C>T (p.Thr92Ile)
c.194C>T (p.Thr65Ile)
c.239C>T (p.Thr80Ile)
c.236C>T (p.Thr79Ile)
c.59-6206C>T (n.59-6206C>T)
n.454C>T
c.122C>T (p.Thr41Ile)
n.501C>T
ClinVar dbSNP
21g.34886919G>CCA410203721RUNX1c.275C>G (p.Thr92Ser)
c.194C>G (p.Thr65Ser)
c.239C>G (p.Thr80Ser)
c.236C>G (p.Thr79Ser)
c.59-6206C>G (n.59-6206C>G)
n.454C>G
c.122C>G (p.Thr41Ser)
n.501C>G
dbSNP
21g.34886919G>TCA410203720RUNX1c.275C>A (p.Thr92Asn)
c.194C>A (p.Thr65Asn)
c.239C>A (p.Thr80Asn)
c.236C>A (p.Thr79Asn)
c.59-6206C>A (n.59-6206C>A)
n.454C>A
c.122C>A (p.Thr41Asn)
n.501C>A
21g.34886920T>ACA410203723RUNX1c.274A>T (p.Thr92Ser)
c.193A>T (p.Thr65Ser)
c.238A>T (p.Thr80Ser)
c.235A>T (p.Thr79Ser)
c.59-6207A>T (n.59-6207A>T)
n.453A>T
c.121A>T (p.Thr41Ser)
n.500A>T
dbSNP
21g.34886920T>CCA410203725RUNX1c.274A>G (p.Thr92Ala)
c.193A>G (p.Thr65Ala)
c.238A>G (p.Thr80Ala)
c.235A>G (p.Thr79Ala)
c.59-6207A>G (n.59-6207A>G)
n.453A>G
c.121A>G (p.Thr41Ala)
n.500A>G
dbSNP COSMIC COSMIC
21g.34886920T>GCA410203727RUNX1c.274A>C (p.Thr92Pro)
c.193A>C (p.Thr65Pro)
c.238A>C (p.Thr80Pro)
c.235A>C (p.Thr79Pro)
c.59-6207A>C (n.59-6207A>C)
n.453A>C
c.121A>C (p.Thr41Pro)
n.500A>C
dbSNP
21g.34886921G>ACA512318866RUNX1c.273C>T (p.Arg91=)
c.192C>T (p.Arg64=)
c.237C>T (p.Arg79=)
c.234C>T (p.Arg78=)
c.59-6208C>T (n.59-6208C>T)
n.452C>T
c.120C>T (p.Arg40=)
n.499C>T
dbSNP
21g.34886921G>CCA512318865RUNX1c.273C>G (p.Arg91=)
c.192C>G (p.Arg64=)
c.237C>G (p.Arg79=)
c.234C>G (p.Arg78=)
c.59-6208C>G (n.59-6208C>G)
n.452C>G
c.120C>G (p.Arg40=)
n.499C>G
21g.34886921G>TCA512318864RUNX1c.273C>A (p.Arg91=)
c.192C>A (p.Arg64=)
c.237C>A (p.Arg79=)
c.234C>A (p.Arg78=)
c.59-6208C>A (n.59-6208C>A)
n.452C>A
c.120C>A (p.Arg40=)
n.499C>A
21g.34886922C>ACA410203729RUNX1c.272G>T (p.Arg91Leu)
c.191G>T (p.Arg64Leu)
c.236G>T (p.Arg79Leu)
c.233G>T (p.Arg78Leu)
c.59-6209G>T (n.59-6209G>T)
n.451G>T
c.119G>T (p.Arg40Leu)
n.498G>T
dbSNP
21g.34886922C=CA2387297146RUNX1c.272G= (p.Arg91=)
c.191G= (p.Arg64=)
c.236G= (p.Arg79=)
c.233G= (p.Arg78=)
c.59-6209G= (n.59-6209G=)
n.451G=
c.119G= (p.Arg40=)
n.498G=
21g.34886922C>GCA410203731RUNX1c.272G>C (p.Arg91Pro)
c.191G>C (p.Arg64Pro)
c.236G>C (p.Arg79Pro)
c.233G>C (p.Arg78Pro)
c.59-6209G>C (n.59-6209G>C)
n.451G>C
c.119G>C (p.Arg40Pro)
n.498G>C
dbSNP
21g.34886922C>TCA410203733RUNX1c.272G>A (p.Arg91His)
c.191G>A (p.Arg64His)
c.236G>A (p.Arg79His)
c.233G>A (p.Arg78His)
c.59-6209G>A (n.59-6209G>A)
n.451G>A
c.119G>A (p.Arg40His)
n.498G>A
dbSNP gnomAD v2 gnomAD v4
21g.34886922_34886923insACA645607444RUNX1c.271_272insT (p.Arg91LeufsTer?)
c.190_191insT (p.Arg64LeufsTer?)
c.235_236insT (p.Arg79LeufsTer?)
c.232_233insT (p.Arg78LeufsTer?)
c.59-6210_59-6209insT (n.59-6210_59-6209insT)
n.450_451insT
c.118_119insT (p.Arg40LeufsTer?)
n.497_498insT
COSMIC COSMIC
21g.34886923G>ACA410203735RUNX1c.271C>T (p.Arg91Cys)
c.190C>T (p.Arg64Cys)
c.235C>T (p.Arg79Cys)
c.232C>T (p.Arg78Cys)
c.59-6210C>T (n.59-6210C>T)
n.450C>T
c.118C>T (p.Arg40Cys)
n.497C>T
dbSNP
21g.34886923G>CCA410203737RUNX1c.271C>G (p.Arg91Gly)
c.190C>G (p.Arg64Gly)
c.235C>G (p.Arg79Gly)
c.232C>G (p.Arg78Gly)
c.59-6210C>G (n.59-6210C>G)
n.450C>G
c.118C>G (p.Arg40Gly)
n.497C>G
dbSNP
21g.34886923G=CA2387297147RUNX1c.271C= (p.Arg91=)
c.190C= (p.Arg64=)
c.235C= (p.Arg79=)
c.232C= (p.Arg78=)
c.59-6210C= (n.59-6210C=)
n.450C=
c.118C= (p.Arg40=)
n.497C=
21g.34886923G>TCA410203738RUNX1c.271C>A (p.Arg91Ser)
c.190C>A (p.Arg64Ser)
c.235C>A (p.Arg79Ser)
c.232C>A (p.Arg78Ser)
c.59-6210C>A (n.59-6210C>A)
n.450C>A
c.118C>A (p.Arg40Ser)
n.497C>A
dbSNP gnomAD v4
21g.34886924C>ACA512318869RUNX1c.270G>T (p.Val90=)
c.189G>T (p.Val63=)
c.234G>T (p.Val78=)
c.231G>T (p.Val77=)
c.59-6211G>T (n.59-6211G>T)
n.449G>T
c.117G>T (p.Val39=)
n.496G>T
dbSNP
21g.34886924C>GCA512318867RUNX1c.270G>C (p.Val90=)
c.189G>C (p.Val63=)
c.234G>C (p.Val78=)
c.231G>C (p.Val77=)
c.59-6211G>C (n.59-6211G>C)
n.449G>C
c.117G>C (p.Val39=)
n.496G>C
21g.34886924C>TCA512318868RUNX1c.270G>A (p.Val90=)
c.189G>A (p.Val63=)
c.234G>A (p.Val78=)
c.231G>A (p.Val77=)
c.59-6211G>A (n.59-6211G>A)
n.449G>A
c.117G>A (p.Val39=)
n.496G>A
ClinVar dbSNP gnomAD v4
21g.34886924dupCA1139666850RUNX1c.270dup (p.Arg91AlafsTer?)
c.189dup (p.Arg64AlafsTer?)
c.234dup (p.Arg79AlafsTer?)
c.231dup (p.Arg78AlafsTer?)
c.59-6211dup (n.59-6211dup)
n.449dup
c.117dup (p.Arg40AlafsTer?)
n.496dup
ClinVar dbSNP
21g.34886924_34886927delCA645607445RUNX1c.267_270del (p.Val90AlafsTer?)
c.186_189del (p.Val63AlafsTer?)
c.231_234del (p.Val78AlafsTer?)
c.228_231del (p.Val77AlafsTer?)
c.59-6214_59-6211del (n.59-6214_59-6211del)
n.446_449del
c.114_117del (p.Val39AlafsTer?)
n.493_496del
COSMIC
21g.34886925A>CCA410203740RUNX1c.269T>G (p.Val90Gly)
c.188T>G (p.Val63Gly)
c.233T>G (p.Val78Gly)
c.230T>G (p.Val77Gly)
c.59-6212T>G (n.59-6212T>G)
n.448T>G
c.116T>G (p.Val39Gly)
n.495T>G
21g.34886925A>GCA410203742RUNX1c.269T>C (p.Val90Ala)
c.188T>C (p.Val63Ala)
c.233T>C (p.Val78Ala)
c.230T>C (p.Val77Ala)
c.59-6212T>C (n.59-6212T>C)
n.448T>C
c.116T>C (p.Val39Ala)
n.495T>C
COSMIC
21g.34886925A>TCA410203744RUNX1c.269T>A (p.Val90Glu)
c.188T>A (p.Val63Glu)
c.233T>A (p.Val78Glu)
c.230T>A (p.Val77Glu)
c.59-6212T>A (n.59-6212T>A)
n.448T>A
c.116T>A (p.Val39Glu)
n.495T>A
21g.34886925_34886926insAGGTGCGCA645607446RUNX1c.268_269insCGCACCT (p.Val90AlafsTer?)
c.187_188insCGCACCT (p.Val63AlafsTer?)
c.232_233insCGCACCT (p.Val78AlafsTer?)
c.229_230insCGCACCT (p.Val77AlafsTer?)
c.59-6213_59-6212insCGCACCT (n.59-6213_59-6212insCGCACCT)
n.447_448insCGCACCT
c.115_116insCGCACCT (p.Val39AlafsTer?)
n.494_495insCGCACCT
COSMIC
21g.34886926C>ACA410203746RUNX1c.268G>T (p.Val90Leu)
c.187G>T (p.Val63Leu)
c.232G>T (p.Val78Leu)
c.229G>T (p.Val77Leu)
c.59-6213G>T (n.59-6213G>T)
n.447G>T
c.115G>T (p.Val39Leu)
n.494G>T
21g.34886926C=CA2387297148RUNX1c.268G= (p.Val90=)
c.187G= (p.Val63=)
c.232G= (p.Val78=)
c.229G= (p.Val77=)
c.59-6213G= (n.59-6213G=)
n.447G=
c.115G= (p.Val39=)
n.494G=
21g.34886926C>GCA410203749RUNX1c.268G>C (p.Val90Leu)
c.187G>C (p.Val63Leu)
c.232G>C (p.Val78Leu)
c.229G>C (p.Val77Leu)
c.59-6213G>C (n.59-6213G>C)
n.447G>C
c.115G>C (p.Val39Leu)
n.494G>C
dbSNP gnomAD v4
21g.34886926C>TCA410203747RUNX1c.268G>A (p.Val90Met)
c.187G>A (p.Val63Met)
c.232G>A (p.Val78Met)
c.229G>A (p.Val77Met)
c.59-6213G>A (n.59-6213G>A)
n.447G>A
c.115G>A (p.Val39Met)
n.494G>A
ClinVar dbSNP
21g.34886927delCA2580098639RUNX1c.268del (p.Val90CysfsTer?)
c.187del (p.Val63CysfsTer?)
c.232del (p.Val78CysfsTer?)
c.229del (p.Val77CysfsTer?)
c.59-6213del (n.59-6213del)
n.447del
c.115del (p.Val39CysfsTer?)
n.494del
ClinVar dbSNP
21g.34886927C>ACA512318872RUNX1c.267G>T (p.Leu89=)
c.186G>T (p.Leu62=)
c.231G>T (p.Leu77=)
c.228G>T (p.Leu76=)
c.59-6214G>T (n.59-6214G>T)
n.446G>T
c.114G>T (p.Leu38=)
n.493G>T
21g.34886927C>GCA512318870RUNX1c.267G>C (p.Leu89=)
c.186G>C (p.Leu62=)
c.231G>C (p.Leu77=)
c.228G>C (p.Leu76=)
c.59-6214G>C (n.59-6214G>C)
n.446G>C
c.114G>C (p.Leu38=)
n.493G>C
21g.34886927C>TCA512318871RUNX1c.267G>A (p.Leu89=)
c.186G>A (p.Leu62=)
c.231G>A (p.Leu77=)
c.228G>A (p.Leu76=)
c.59-6214G>A (n.59-6214G>A)
n.446G>A
c.114G>A (p.Leu38=)
n.493G>A
ClinVar dbSNP gnomAD v4
21g.34886928A>CCA410203750RUNX1c.266T>G (p.Leu89Arg)
c.185T>G (p.Leu62Arg)
c.230T>G (p.Leu77Arg)
c.227T>G (p.Leu76Arg)
c.59-6215T>G (n.59-6215T>G)
n.445T>G
c.113T>G (p.Leu38Arg)
n.492T>G
dbSNP COSMIC
21g.34886928A>GCA410203752RUNX1c.266T>C (p.Leu89Pro)
c.185T>C (p.Leu62Pro)
c.230T>C (p.Leu77Pro)
c.227T>C (p.Leu76Pro)
c.59-6215T>C (n.59-6215T>C)
n.445T>C
c.113T>C (p.Leu38Pro)
n.492T>C
dbSNP
21g.34886928A>TCA410203753RUNX1c.266T>A (p.Leu89Gln)
c.185T>A (p.Leu62Gln)
c.230T>A (p.Leu77Gln)
c.227T>A (p.Leu76Gln)
c.59-6215T>A (n.59-6215T>A)
n.445T>A
c.113T>A (p.Leu38Gln)
n.492T>A
dbSNP
21g.34886928_34886929insTGGTCA2577483765RUNX1c.265_266insACCA (p.Leu89HisfsTer?)
c.184_185insACCA (p.Leu62HisfsTer?)
c.229_230insACCA (p.Leu77HisfsTer?)
c.226_227insACCA (p.Leu76HisfsTer?)
c.59-6216_59-6215insACCA (n.59-6216_59-6215insACCA)
n.444_445insACCA
c.112_113insACCA (p.Leu38HisfsTer?)
n.491_492insACCA
21g.34886929G>ACA16616271RUNX1c.265C>T (p.Leu89=)
c.184C>T (p.Leu62=)
c.229C>T (p.Leu77=)
c.226C>T (p.Leu76=)
c.59-6216C>T (n.59-6216C>T)
n.444C>T
c.112C>T (p.Leu38=)
n.491C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34886929G>CCA410203755RUNX1c.265C>G (p.Leu89Val)
c.184C>G (p.Leu62Val)
c.229C>G (p.Leu77Val)
c.226C>G (p.Leu76Val)
c.59-6216C>G (n.59-6216C>G)
n.444C>G
c.112C>G (p.Leu38Val)
n.491C>G
dbSNP
21g.34886929G=CA2387297149RUNX1c.265C= (p.Leu89=)
c.184C= (p.Leu62=)
c.229C= (p.Leu77=)
c.226C= (p.Leu76=)
c.59-6216C= (n.59-6216C=)
n.444C=
c.112C= (p.Leu38=)
n.491C=
21g.34886929G>TCA410203757RUNX1c.265C>A (p.Leu89Met)
c.184C>A (p.Leu62Met)
c.229C>A (p.Leu77Met)
c.226C>A (p.Leu76Met)
c.59-6216C>A (n.59-6216C>A)
n.444C>A
c.112C>A (p.Leu38Met)
n.491C>A
21g.34886929dupCA645607447RUNX1c.265dup (p.Leu89ProfsTer?)
c.184dup (p.Leu62ProfsTer?)
c.229dup (p.Leu77ProfsTer?)
c.226dup (p.Leu76ProfsTer?)
c.59-6216dup (n.59-6216dup)
n.444dup
c.112dup (p.Leu38ProfsTer?)
n.491dup
COSMIC
21g.34886930C>ACA410203759RUNX1c.264G>T (p.Glu88Asp)
c.183G>T (p.Glu61Asp)
c.228G>T (p.Glu76Asp)
c.225G>T (p.Glu75Asp)
c.59-6217G>T (n.59-6217G>T)
n.443G>T
c.111G>T (p.Glu37Asp)
n.490G>T
ClinVar dbSNP
21g.34886930C=CA2387297150RUNX1c.264G= (p.Glu88=)
c.183G= (p.Glu61=)
c.228G= (p.Glu76=)
c.225G= (p.Glu75=)
c.59-6217G= (n.59-6217G=)
n.443G=
c.111G= (p.Glu37=)
n.490G=
21g.34886930C>GCA10014558RUNX1c.264G>C (p.Glu88Asp)
c.183G>C (p.Glu61Asp)
c.228G>C (p.Glu76Asp)
c.225G>C (p.Glu75Asp)
c.59-6217G>C (n.59-6217G>C)
n.443G>C
c.111G>C (p.Glu37Asp)
n.490G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34886930C>TCA512318873RUNX1c.264G>A (p.Glu88=)
c.183G>A (p.Glu61=)
c.228G>A (p.Glu76=)
c.225G>A (p.Glu75=)
c.59-6217G>A (n.59-6217G>A)
n.443G>A
c.111G>A (p.Glu37=)
n.490G>A
21g.34886931T>ACA410203761RUNX1c.263A>T (p.Glu88Val)
c.182A>T (p.Glu61Val)
c.227A>T (p.Glu76Val)
c.224A>T (p.Glu75Val)
c.59-6218A>T (n.59-6218A>T)
n.442A>T
c.110A>T (p.Glu37Val)
n.489A>T
dbSNP
21g.34886931T>CCA410203763RUNX1c.263A>G (p.Glu88Gly)
c.182A>G (p.Glu61Gly)
c.227A>G (p.Glu76Gly)
c.224A>G (p.Glu75Gly)
c.59-6218A>G (n.59-6218A>G)
n.442A>G
c.110A>G (p.Glu37Gly)
n.489A>G
dbSNP
21g.34886931T>GCA320642675RUNX1c.263A>C (p.Glu88Ala)
c.182A>C (p.Glu61Ala)
c.227A>C (p.Glu76Ala)
c.224A>C (p.Glu75Ala)
c.59-6218A>C (n.59-6218A>C)
n.442A>C
c.110A>C (p.Glu37Ala)
n.489A>C
dbSNP
21g.34886931T=CA2387297151RUNX1c.263A= (p.Glu88=)
c.182A= (p.Glu61=)
c.227A= (p.Glu76=)
c.224A= (p.Glu75=)
c.59-6218A= (n.59-6218A=)
n.442A=
c.110A= (p.Glu37=)
n.489A=
21g.34886932C>ACA410203766RUNX1c.262G>T (p.Glu88Ter)
c.181G>T (p.Glu61Ter)
c.226G>T (p.Glu76Ter)
c.223G>T (p.Glu75Ter)
c.59-6219G>T (n.59-6219G>T)
n.441G>T
c.109G>T (p.Glu37Ter)
n.488G>T
gnomAD v4 COSMIC
21g.34886932C=CA2387297152RUNX1c.262G= (p.Glu88=)
c.181G= (p.Glu61=)
c.226G= (p.Glu76=)
c.223G= (p.Glu75=)
c.59-6219G= (n.59-6219G=)
n.441G=
c.109G= (p.Glu37=)
n.488G=
21g.34886932C>GCA410203767RUNX1c.262G>C (p.Glu88Gln)
c.181G>C (p.Glu61Gln)
c.226G>C (p.Glu76Gln)
c.223G>C (p.Glu75Gln)
c.59-6219G>C (n.59-6219G>C)
n.441G>C
c.109G>C (p.Glu37Gln)
n.488G>C
ClinVar dbSNP
21g.34886932C>TCA410203769RUNX1c.262G>A (p.Glu88Lys)
c.181G>A (p.Glu61Lys)
c.226G>A (p.Glu76Lys)
c.223G>A (p.Glu75Lys)
c.59-6219G>A (n.59-6219G>A)
n.441G>A
c.109G>A (p.Glu37Lys)
n.488G>A
dbSNP gnomAD v3 gnomAD v4
21g.34886933G>ACA512318875RUNX1c.261C>T (p.Gly87=)
c.180C>T (p.Gly60=)
c.225C>T (p.Gly75=)
c.222C>T (p.Gly74=)
c.59-6220C>T (n.59-6220C>T)
n.440C>T
c.108C>T (p.Gly36=)
n.487C>T
ClinVar dbSNP
21g.34886933G>CCA512318876RUNX1c.261C>G (p.Gly87=)
c.180C>G (p.Gly60=)
c.225C>G (p.Gly75=)
c.222C>G (p.Gly74=)
c.59-6220C>G (n.59-6220C>G)
n.440C>G
c.108C>G (p.Gly36=)
n.487C>G
ClinVar dbSNP
21g.34886933G>TCA512318874RUNX1c.261C>A (p.Gly87=)
c.180C>A (p.Gly60=)
c.225C>A (p.Gly75=)
c.222C>A (p.Gly74=)
c.59-6220C>A (n.59-6220C>A)
n.440C>A
c.108C>A (p.Gly36=)
n.487C>A
ClinVar
21g.34886934C>ACA410203775RUNX1c.260G>T (p.Gly87Val)
c.179G>T (p.Gly60Val)
c.224G>T (p.Gly75Val)
c.221G>T (p.Gly74Val)
c.59-6221G>T (n.59-6221G>T)
n.439G>T
c.107G>T (p.Gly36Val)
n.486G>T
21g.34886934C>GCA410203771RUNX1c.260G>C (p.Gly87Ala)
c.179G>C (p.Gly60Ala)
c.224G>C (p.Gly75Ala)
c.221G>C (p.Gly74Ala)
c.59-6221G>C (n.59-6221G>C)
n.439G>C
c.107G>C (p.Gly36Ala)
n.486G>C
dbSNP
21g.34886934C>TCA410203773RUNX1c.260G>A (p.Gly87Asp)
c.179G>A (p.Gly60Asp)
c.224G>A (p.Gly75Asp)
c.221G>A (p.Gly74Asp)
c.59-6221G>A (n.59-6221G>A)
n.439G>A
c.107G>A (p.Gly36Asp)
n.486G>A
dbSNP
21g.34886934_34886935delinsTTCA2573157361RUNX1c.259_260delinsAA (p.Gly87Asn)
c.178_179delinsAA (p.Gly60Asn)
c.223_224delinsAA (p.Gly75Asn)
c.220_221delinsAA (p.Gly74Asn)
c.59-6222_59-6221delinsAA (n.59-6222_59-6221delinsAA)
n.438_439delinsAA
c.106_107delinsAA (p.Gly36Asn)
n.485_486delinsAA
ClinVar dbSNP
21g.34886935_34886936dupCA2573157362RUNX1c.259_260dup (p.Glu88AlafsTer?)
c.178_179dup (p.Glu61AlafsTer?)
c.223_224dup (p.Glu76AlafsTer?)
c.220_221dup (p.Glu75AlafsTer?)
c.59-6222_59-6221dup (n.59-6222_59-6221dup)
n.438_439dup
c.106_107dup (p.Glu37AlafsTer?)
n.485_486dup
ClinVar dbSNP
21g.34886935C>ACA10014559RUNX1c.259G>T (p.Gly87Cys)
c.178G>T (p.Gly60Cys)
c.223G>T (p.Gly75Cys)
c.220G>T (p.Gly74Cys)
c.59-6222G>T (n.59-6222G>T)
n.438G>T
c.106G>T (p.Gly36Cys)
n.485G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.34886935C=CA2387297153RUNX1c.259G= (p.Gly87=)
c.178G= (p.Gly60=)
c.223G= (p.Gly75=)
c.220G= (p.Gly74=)
c.59-6222G= (n.59-6222G=)
n.438G=
c.106G= (p.Gly36=)
n.485G=
21g.34886935C>GCA410203778RUNX1c.259G>C (p.Gly87Arg)
c.178G>C (p.Gly60Arg)
c.223G>C (p.Gly75Arg)
c.220G>C (p.Gly74Arg)
c.59-6222G>C (n.59-6222G>C)
n.438G>C
c.106G>C (p.Gly36Arg)
n.485G>C
dbSNP
21g.34886935C>TCA410203780RUNX1c.259G>A (p.Gly87Ser)
c.178G>A (p.Gly60Ser)
c.223G>A (p.Gly75Ser)
c.220G>A (p.Gly74Ser)
c.59-6222G>A (n.59-6222G>A)
n.438G>A
c.106G>A (p.Gly36Ser)
n.485G>A
21g.34886935_34886937delinsCCGCA2387297154RUNX1c.257_259delinsCGG (p.Pro86=)
c.176_178delinsCGG (p.Pro59=)
c.221_223delinsCGG (p.Pro74=)
c.218_220delinsCGG (p.Pro73=)
c.59-6224_59-6222delinsCGG (n.59-6224_59-6222delinsCGG)
n.436_438delinsCGG
c.104_106delinsCGG (p.Pro35=)
n.483_485delinsCGG
21g.34886936C>ACA512318877RUNX1c.258G>T (p.Pro86=)
c.177G>T (p.Pro59=)
c.222G>T (p.Pro74=)
c.219G>T (p.Pro73=)
c.59-6223G>T (n.59-6223G>T)
n.437G>T
c.105G>T (p.Pro35=)
n.484G>T
21g.34886936C=CA2387297155RUNX1c.258G= (p.Pro86=)
c.177G= (p.Pro59=)
c.222G= (p.Pro74=)
c.219G= (p.Pro73=)
c.59-6223G= (n.59-6223G=)
n.437G=
c.105G= (p.Pro35=)
n.484G=
21g.34886936C>GCA320642680RUNX1c.258G>C (p.Pro86=)
c.177G>C (p.Pro59=)
c.222G>C (p.Pro74=)
c.219G>C (p.Pro73=)
c.59-6223G>C (n.59-6223G>C)
n.437G>C
c.105G>C (p.Pro35=)
n.484G>C
ClinVar dbSNP
21g.34886936C>TCA320642685RUNX1c.258G>A (p.Pro86=)
c.177G>A (p.Pro59=)
c.222G>A (p.Pro74=)
c.219G>A (p.Pro73=)
c.59-6223G>A (n.59-6223G>A)
n.437G>A
c.105G>A (p.Pro35=)
n.484G>A
ClinVar dbSNP
21g.34886936_34886937insACCA645607448RUNX1c.258_259insTG (p.Gly87TrpfsTer?)
c.177_178insTG (p.Gly60TrpfsTer?)
c.222_223insTG (p.Gly75TrpfsTer?)
c.219_220insTG (p.Gly74TrpfsTer?)
c.59-6223_59-6222insTG (n.59-6223_59-6222insTG)
n.437_438insTG
c.105_106insTG (p.Gly36TrpfsTer?)
n.484_485insTG
COSMIC COSMIC
21g.34886936_34886937delCA10014560RUNX1c.257_258del (p.Pro86ArgfsTer?)
c.176_177del (p.Pro59ArgfsTer?)
c.221_222del (p.Pro74ArgfsTer?)
c.218_219del (p.Pro73ArgfsTer?)
c.59-6224_59-6223del (n.59-6224_59-6223del)
n.436_437del
c.104_105del (p.Pro35ArgfsTer?)
n.483_484del
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886937G>ACA410203786RUNX1c.257C>T (p.Pro86Leu)
c.176C>T (p.Pro59Leu)
c.221C>T (p.Pro74Leu)
c.218C>T (p.Pro73Leu)
c.59-6224C>T (n.59-6224C>T)
n.436C>T
c.104C>T (p.Pro35Leu)
n.483C>T
ClinVar dbSNP gnomAD v4
21g.34886937G>CCA410203788RUNX1c.257C>G (p.Pro86Arg)
c.176C>G (p.Pro59Arg)
c.221C>G (p.Pro74Arg)
c.218C>G (p.Pro73Arg)
c.59-6224C>G (n.59-6224C>G)
n.436C>G
c.104C>G (p.Pro35Arg)
n.483C>G
dbSNP
21g.34886937G=CA2387297156RUNX1c.257C= (p.Pro86=)
c.176C= (p.Pro59=)
c.221C= (p.Pro74=)
c.218C= (p.Pro73=)
c.59-6224C= (n.59-6224C=)
n.436C=
c.104C= (p.Pro35=)
n.483C=
21g.34886937G>TCA410203790RUNX1c.257C>A (p.Pro86Gln)
c.176C>A (p.Pro59Gln)
c.221C>A (p.Pro74Gln)
c.218C>A (p.Pro73Gln)
c.59-6224C>A (n.59-6224C>A)
n.436C>A
c.104C>A (p.Pro35Gln)
n.483C>A
21g.34886939delCA891842379RUNX1c.257del (p.Pro86ArgfsTer?)
c.176del (p.Pro59ArgfsTer?)
c.221del (p.Pro74ArgfsTer?)
c.218del (p.Pro73ArgfsTer?)
c.59-6224del (n.59-6224del)
n.436del
c.104del (p.Pro35ArgfsTer?)
n.483del
dbSNP
21g.34886938G>ACA410203791RUNX1c.256C>T (p.Pro86Ser)
c.175C>T (p.Pro59Ser)
c.220C>T (p.Pro74Ser)
c.217C>T (p.Pro73Ser)
c.59-6225C>T (n.59-6225C>T)
n.435C>T
c.103C>T (p.Pro35Ser)
n.482C>T
dbSNP gnomAD v4
21g.34886938G>CCA320642689RUNX1c.256C>G (p.Pro86Ala)
c.175C>G (p.Pro59Ala)
c.220C>G (p.Pro74Ala)
c.217C>G (p.Pro73Ala)
c.59-6225C>G (n.59-6225C>G)
n.435C>G
c.103C>G (p.Pro35Ala)
n.482C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.34886938G=CA2387297157RUNX1c.256C= (p.Pro86=)
c.175C= (p.Pro59=)
c.220C= (p.Pro74=)
c.217C= (p.Pro73=)
c.59-6225C= (n.59-6225C=)
n.435C=
c.103C= (p.Pro35=)
n.482C=
21g.34886938G>TCA410203793RUNX1c.256C>A (p.Pro86Thr)
c.175C>A (p.Pro59Thr)
c.220C>A (p.Pro74Thr)
c.217C>A (p.Pro73Thr)
c.59-6225C>A (n.59-6225C>A)
n.435C>A
c.103C>A (p.Pro35Thr)
n.482C>A
21g.34886939G>ACA320642691RUNX1c.255C>T (p.His85=)
c.174C>T (p.His58=)
c.219C>T (p.His73=)
c.216C>T (p.His72=)
c.59-6226C>T (n.59-6226C>T)
n.434C>T
c.102C>T (p.His34=)
n.481C>T
ClinVar dbSNP gnomAD v4
21g.34886939G>CCA320642694RUNX1c.255C>G (p.His85Gln)
c.174C>G (p.His58Gln)
c.219C>G (p.His73Gln)
c.216C>G (p.His72Gln)
c.59-6226C>G (n.59-6226C>G)
n.434C>G
c.102C>G (p.His34Gln)
n.481C>G
dbSNP
21g.34886939G=CA2387297158RUNX1c.255C= (p.His85=)
c.174C= (p.His58=)
c.219C= (p.His73=)
c.216C= (p.His72=)
c.59-6226C= (n.59-6226C=)
n.434C=
c.102C= (p.His34=)
n.481C=
21g.34886939G>TCA410203794RUNX1c.255C>A (p.His85Gln)
c.174C>A (p.His58Gln)
c.219C>A (p.His73Gln)
c.216C>A (p.His72Gln)
c.59-6226C>A (n.59-6226C>A)
n.434C>A
c.102C>A (p.His34Gln)
n.481C>A
21g.34886939_34886940insCACA10014561RUNX1c.254_255insTG (p.Pro86AlafsTer?)
c.173_174insTG (p.Pro59AlafsTer?)
c.218_219insTG (p.Pro74AlafsTer?)
c.215_216insTG (p.Pro73AlafsTer?)
c.59-6227_59-6226insTG (n.59-6227_59-6226insTG)
n.433_434insTG
c.101_102insTG (p.Pro35AlafsTer?)
n.480_481insTG
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886940T>ACA410203796RUNX1c.254A>T (p.His85Leu)
c.173A>T (p.His58Leu)
c.218A>T (p.His73Leu)
c.215A>T (p.His72Leu)
c.59-6227A>T (n.59-6227A>T)
n.433A>T
c.101A>T (p.His34Leu)
n.480A>T
21g.34886940T>CCA410203797RUNX1c.254A>G (p.His85Arg)
c.173A>G (p.His58Arg)
c.218A>G (p.His73Arg)
c.215A>G (p.His72Arg)
c.59-6227A>G (n.59-6227A>G)
n.433A>G
c.101A>G (p.His34Arg)
n.480A>G
21g.34886940T>GCA410203795RUNX1c.254A>C (p.His85Pro)
c.173A>C (p.His58Pro)
c.218A>C (p.His73Pro)
c.215A>C (p.His72Pro)
c.59-6227A>C (n.59-6227A>C)
n.433A>C
c.101A>C (p.His34Pro)
n.480A>C
21g.34886940_34886967delinsTGGTCGGCCAGCACCTCCACCATGCTGCCA2387297159RUNX1c.227_254delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg76=)
c.146_173delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg49=)
c.191_218delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg64=)
c.188_215delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg63=)
c.59-6254_59-6227delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (n.59-6254_59-6227delinsGCAGCATGGTGGAGGTGCTGGCCGACCA)
n.406_433delinsGCAGCATGGTGGAGGTGCTGGCCGACCA
c.74_101delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg25=)
n.453_480delinsGCAGCATGGTGGAGGTGCTGGCCGACCA
21g.34886940_34886941insCCCA2695202277RUNX1c.253_254insGG (p.His85ArgfsTer?)
c.172_173insGG (p.His58ArgfsTer?)
c.217_218insGG (p.His73ArgfsTer?)
c.214_215insGG (p.His72ArgfsTer?)
c.59-6228_59-6227insGG (n.59-6228_59-6227insGG)
n.432_433insGG
c.100_101insGG (p.His34ArgfsTer?)
n.479_480insGG
21g.34886940_34886941insCCCCCA2499225882RUNX1c.253_254insGGGG (p.His85ArgfsTer?)
c.172_173insGGGG (p.His58ArgfsTer?)
c.217_218insGGGG (p.His73ArgfsTer?)
c.214_215insGGGG (p.His72ArgfsTer?)
c.59-6228_59-6227insGGGG (n.59-6228_59-6227insGGGG)
n.432_433insGGGG
c.100_101insGGGG (p.His34ArgfsTer?)
n.479_480insGGGG
ClinVar dbSNP
21g.34886941G>ACA410203798RUNX1c.253C>T (p.His85Tyr)
c.172C>T (p.His58Tyr)
c.217C>T (p.His73Tyr)
c.214C>T (p.His72Tyr)
c.59-6228C>T (n.59-6228C>T)
n.432C>T
c.100C>T (p.His34Tyr)
n.479C>T
ClinVar dbSNP
21g.34886941G>CCA410203799RUNX1c.253C>G (p.His85Asp)
c.172C>G (p.His58Asp)
c.217C>G (p.His73Asp)
c.214C>G (p.His72Asp)
c.59-6228C>G (n.59-6228C>G)
n.432C>G
c.100C>G (p.His34Asp)
n.479C>G
21g.34886941G=CA2387297161RUNX1c.253C= (p.His85=)
c.172C= (p.His58=)
c.217C= (p.His73=)
c.214C= (p.His72=)
c.59-6228C= (n.59-6228C=)
n.432C=
c.100C= (p.His34=)
n.479C=
21g.34886941G>TCA123975RUNX1c.253C>A (p.His85Asn)
c.172C>A (p.His58Asn)
c.217C>A (p.His73Asn)
c.214C>A (p.His72Asn)
c.59-6228C>A (n.59-6228C>A)
n.432C>A
c.100C>A (p.His34Asn)
n.479C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.34886942dupCA645607449RUNX1c.253dup (p.His85ProfsTer?)
c.172dup (p.His58ProfsTer?)
c.217dup (p.His73ProfsTer?)
c.214dup (p.His72ProfsTer?)
c.59-6228dup (n.59-6228dup)
n.432dup
c.100dup (p.His34ProfsTer?)
n.479dup
COSMIC COSMIC
21g.34886941_34886942dupCA915940742RUNX1c.252_253dup (p.His85ProfsTer?)
c.171_172dup (p.His58ProfsTer?)
c.216_217dup (p.His73ProfsTer?)
c.213_214dup (p.His72ProfsTer?)
c.59-6229_59-6228dup (n.59-6229_59-6228dup)
n.431_432dup
c.99_100dup (p.His34ProfsTer?)
n.478_479dup
21g.34886946_34886972delCA2387297160RUNX1c.227_253del (p.Arg76_Asp84del)
c.146_172del (p.Arg49_Asp57del)
c.191_217del (p.Arg64_Asp72del)
c.188_214del (p.Arg63_Asp71del)
c.59-6254_59-6228del (n.59-6254_59-6228del)
n.406_432del
c.74_100del (p.Arg25_Asp33del)
n.453_479del
dbSNP
21g.34886942G>ACA512318887RUNX1c.252C>T (p.Asp84=)
c.171C>T (p.Asp57=)
c.216C>T (p.Asp72=)
c.213C>T (p.Asp71=)
c.59-6229C>T (n.59-6229C>T)
n.431C>T
c.99C>T (p.Asp33=)
n.478C>T
dbSNP gnomAD v4
21g.34886942G>CCA16622098RUNX1c.252C>G (p.Asp84Glu)
c.171C>G (p.Asp57Glu)
c.216C>G (p.Asp72Glu)
c.213C>G (p.Asp71Glu)
c.59-6229C>G (n.59-6229C>G)
n.431C>G
c.99C>G (p.Asp33Glu)
n.478C>G
ClinVar dbSNP
21g.34886942G=CA2387297162RUNX1c.252C= (p.Asp84=)
c.171C= (p.Asp57=)
c.216C= (p.Asp72=)
c.213C= (p.Asp71=)
c.59-6229C= (n.59-6229C=)
n.431C=
c.99C= (p.Asp33=)
n.478C=
21g.34886942G>TCA410203800RUNX1c.252C>A (p.Asp84Glu)
c.171C>A (p.Asp57Glu)
c.216C>A (p.Asp72Glu)
c.213C>A (p.Asp71Glu)
c.59-6229C>A (n.59-6229C>A)
n.431C>A
c.99C>A (p.Asp33Glu)
n.478C>A
21g.34886943_34886945delCA2737785031RUNX1c.250_252del (p.Asp84del)
c.169_171del (p.Asp57del)
c.214_216del (p.Asp72del)
c.211_213del (p.Asp71del)
c.59-6231_59-6229del (n.59-6231_59-6229del)
n.429_431del
c.97_99del (p.Asp33del)
n.476_478del
dbSNP
21g.34886943T>ACA410203801RUNX1c.251A>T (p.Asp84Val)
c.170A>T (p.Asp57Val)
c.215A>T (p.Asp72Val)
c.212A>T (p.Asp71Val)
c.59-6230A>T (n.59-6230A>T)
n.430A>T
c.98A>T (p.Asp33Val)
n.477A>T
dbSNP
21g.34886943T>CCA410203802RUNX1c.251A>G (p.Asp84Gly)
c.170A>G (p.Asp57Gly)
c.215A>G (p.Asp72Gly)
c.212A>G (p.Asp71Gly)
c.59-6230A>G (n.59-6230A>G)
n.430A>G
c.98A>G (p.Asp33Gly)
n.477A>G
ClinVar dbSNP
21g.34886943T>GCA410203803RUNX1c.251A>C (p.Asp84Ala)
c.170A>C (p.Asp57Ala)
c.215A>C (p.Asp72Ala)
c.212A>C (p.Asp71Ala)
c.59-6230A>C (n.59-6230A>C)
n.430A>C
c.98A>C (p.Asp33Ala)
n.477A>C
dbSNP
21g.34886944C>ACA410203804RUNX1c.250G>T (p.Asp84Tyr)
c.169G>T (p.Asp57Tyr)
c.214G>T (p.Asp72Tyr)
c.211G>T (p.Asp71Tyr)
c.59-6231G>T (n.59-6231G>T)
n.429G>T
c.97G>T (p.Asp33Tyr)
n.476G>T
21g.34886944C=CA2387297163RUNX1c.250G= (p.Asp84=)
c.169G= (p.Asp57=)
c.214G= (p.Asp72=)
c.211G= (p.Asp71=)
c.59-6231G= (n.59-6231G=)
n.429G=
c.97G= (p.Asp33=)
n.476G=
21g.34886944C>GCA410203805RUNX1c.250G>C (p.Asp84His)
c.169G>C (p.Asp57His)
c.214G>C (p.Asp72His)
c.211G>C (p.Asp71His)
c.59-6231G>C (n.59-6231G>C)
n.429G>C
c.97G>C (p.Asp33His)
n.476G>C
dbSNP
21g.34886944C>TCA10014562RUNX1c.250G>A (p.Asp84Asn)
c.169G>A (p.Asp57Asn)
c.214G>A (p.Asp72Asn)
c.211G>A (p.Asp71Asn)
c.59-6231G>A (n.59-6231G>A)
n.429G>A
c.97G>A (p.Asp33Asn)
n.476G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886944_34886945dupCA2695202283RUNX1c.249_250dup (p.Asp84AlafsTer?)
c.168_169dup (p.Asp57AlafsTer?)
c.213_214dup (p.Asp72AlafsTer?)
c.210_211dup (p.Asp71AlafsTer?)
c.59-6232_59-6231dup (n.59-6232_59-6231dup)
n.428_429dup
c.96_97dup (p.Asp33AlafsTer?)
n.475_476dup
21g.34886945G>ACA512318889RUNX1c.249C>T (p.Ala83=)
c.168C>T (p.Ala56=)
c.213C>T (p.Ala71=)
c.210C>T (p.Ala70=)
c.59-6232C>T (n.59-6232C>T)
n.428C>T
c.96C>T (p.Ala32=)
n.475C>T
ClinVar dbSNP
21g.34886945G>CCA10014563RUNX1c.249C>G (p.Ala83=)
c.168C>G (p.Ala56=)
c.213C>G (p.Ala71=)
c.210C>G (p.Ala70=)
c.59-6232C>G (n.59-6232C>G)
n.428C>G
c.96C>G (p.Ala32=)
n.475C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886945G=CA2387297164RUNX1c.249C= (p.Ala83=)
c.168C= (p.Ala56=)
c.213C= (p.Ala71=)
c.210C= (p.Ala70=)
c.59-6232C= (n.59-6232C=)
n.428C=
c.96C= (p.Ala32=)
n.475C=
21g.34886945G>TCA512318888RUNX1c.249C>A (p.Ala83=)
c.168C>A (p.Ala56=)
c.213C>A (p.Ala71=)
c.210C>A (p.Ala70=)
c.59-6232C>A (n.59-6232C>A)
n.428C>A
c.96C>A (p.Ala32=)
n.475C>A
dbSNP
21g.34886946G>ACA410203806RUNX1c.248C>T (p.Ala83Val)
c.167C>T (p.Ala56Val)
c.212C>T (p.Ala71Val)
c.209C>T (p.Ala70Val)
c.59-6233C>T (n.59-6233C>T)
n.427C>T
c.95C>T (p.Ala32Val)
n.474C>T
ClinVar dbSNP COSMIC
21g.34886946G>CCA410203808RUNX1c.248C>G (p.Ala83Gly)
c.167C>G (p.Ala56Gly)
c.212C>G (p.Ala71Gly)
c.209C>G (p.Ala70Gly)
c.59-6233C>G (n.59-6233C>G)
n.427C>G
c.95C>G (p.Ala32Gly)
n.474C>G
21g.34886946G=CA2387297165RUNX1c.248C= (p.Ala83=)
c.167C= (p.Ala56=)
c.212C= (p.Ala71=)
c.209C= (p.Ala70=)
c.59-6233C= (n.59-6233C=)
n.427C=
c.95C= (p.Ala32=)
n.474C=
21g.34886946G>TCA410203807RUNX1c.248C>A (p.Ala83Asp)
c.167C>A (p.Ala56Asp)
c.212C>A (p.Ala71Asp)
c.209C>A (p.Ala70Asp)
c.59-6233C>A (n.59-6233C>A)
n.427C>A
c.95C>A (p.Ala32Asp)
n.474C>A
21g.34886947C>ACA410203809RUNX1c.247G>T (p.Ala83Ser)
c.166G>T (p.Ala56Ser)
c.211G>T (p.Ala71Ser)
c.208G>T (p.Ala70Ser)
c.59-6234G>T (n.59-6234G>T)
n.426G>T
c.94G>T (p.Ala32Ser)
n.473G>T
21g.34886947C>GCA410203810RUNX1c.247G>C (p.Ala83Pro)
c.166G>C (p.Ala56Pro)
c.211G>C (p.Ala71Pro)
c.208G>C (p.Ala70Pro)
c.59-6234G>C (n.59-6234G>C)
n.426G>C
c.94G>C (p.Ala32Pro)
n.473G>C
dbSNP
21g.34886947C>TCA410203811RUNX1c.247G>A (p.Ala83Thr)
c.166G>A (p.Ala56Thr)
c.211G>A (p.Ala71Thr)
c.208G>A (p.Ala70Thr)
c.59-6234G>A (n.59-6234G>A)
n.426G>A
c.94G>A (p.Ala32Thr)
n.473G>A
dbSNP
21g.34886948dupCA2499225883RUNX1c.247dup (p.Ala83GlyfsTer?)
c.166dup (p.Ala56GlyfsTer?)
c.211dup (p.Ala71GlyfsTer?)
c.208dup (p.Ala70GlyfsTer?)
c.59-6234dup (n.59-6234dup)
n.426dup
c.94dup (p.Ala32GlyfsTer?)
n.473dup
ClinVar dbSNP
21g.34886948C>ACA512318891RUNX1c.246G>T (p.Leu82=)
c.165G>T (p.Leu55=)
c.210G>T (p.Leu70=)
c.207G>T (p.Leu69=)
c.59-6235G>T (n.59-6235G>T)
n.425G>T
c.93G>T (p.Leu31=)
n.472G>T
21g.34886948C=CA2387297166RUNX1c.246G= (p.Leu82=)
c.165G= (p.Leu55=)
c.210G= (p.Leu70=)
c.207G= (p.Leu69=)
c.59-6235G= (n.59-6235G=)
n.425G=
c.93G= (p.Leu31=)
n.472G=
21g.34886948C>GCA512318892RUNX1c.246G>C (p.Leu82=)
c.165G>C (p.Leu55=)
c.210G>C (p.Leu70=)
c.207G>C (p.Leu69=)
c.59-6235G>C (n.59-6235G>C)
n.425G>C
c.93G>C (p.Leu31=)
n.472G>C
21g.34886948C>TCA512318890RUNX1c.246G>A (p.Leu82=)
c.165G>A (p.Leu55=)
c.210G>A (p.Leu70=)
c.207G>A (p.Leu69=)
c.59-6235G>A (n.59-6235G>A)
n.425G>A
c.93G>A (p.Leu31=)
n.472G>A
dbSNP
21g.34886949A>CCA410203812RUNX1c.245T>G (p.Leu82Arg)
c.164T>G (p.Leu55Arg)
c.209T>G (p.Leu70Arg)
c.206T>G (p.Leu69Arg)
c.59-6236T>G (n.59-6236T>G)
n.424T>G
c.92T>G (p.Leu31Arg)
n.471T>G
dbSNP
21g.34886949A>GCA410203813RUNX1c.245T>C (p.Leu82Pro)
c.164T>C (p.Leu55Pro)
c.209T>C (p.Leu70Pro)
c.206T>C (p.Leu69Pro)
c.59-6236T>C (n.59-6236T>C)
n.424T>C
c.92T>C (p.Leu31Pro)
n.471T>C
dbSNP
21g.34886949A>TCA410203814RUNX1c.245T>A (p.Leu82Gln)
c.164T>A (p.Leu55Gln)
c.209T>A (p.Leu70Gln)
c.206T>A (p.Leu69Gln)
c.59-6236T>A (n.59-6236T>A)
n.424T>A
c.92T>A (p.Leu31Gln)
n.471T>A
ClinVar dbSNP
21g.34886949_34886950insAGCAACA645607450RUNX1c.245_246insTGCTT (p.Asp84TrpfsTer?)
c.164_165insTGCTT (p.Asp57TrpfsTer?)
c.209_210insTGCTT (p.Asp72TrpfsTer?)
c.206_207insTGCTT (p.Asp71TrpfsTer?)
c.59-6236_59-6235insTGCTT (n.59-6236_59-6235insTGCTT)
n.424_425insTGCTT
c.92_93insTGCTT (p.Asp33TrpfsTer?)
n.471_472insTGCTT
COSMIC
21g.34886949dupCA2740097782RUNX1c.245dup (p.Ala83GlyfsTer?)
c.164dup (p.Ala56GlyfsTer?)
c.209dup (p.Ala71GlyfsTer?)
c.206dup (p.Ala70GlyfsTer?)
c.59-6236dup (n.59-6236dup)
n.424dup
c.92dup (p.Ala32GlyfsTer?)
n.471dup
21g.34886950G>ACA512318893RUNX1c.244C>T (p.Leu82=)
c.163C>T (p.Leu55=)
c.208C>T (p.Leu70=)
c.205C>T (p.Leu69=)
c.59-6237C>T (n.59-6237C>T)
n.423C>T
c.91C>T (p.Leu31=)
n.470C>T
gnomAD v4
21g.34886950G>CCA410203815RUNX1c.244C>G (p.Leu82Val)
c.163C>G (p.Leu55Val)
c.208C>G (p.Leu70Val)
c.205C>G (p.Leu69Val)
c.59-6237C>G (n.59-6237C>G)
n.423C>G
c.91C>G (p.Leu31Val)
n.470C>G
21g.34886950G>TCA410203816RUNX1c.244C>A (p.Leu82Met)
c.163C>A (p.Leu55Met)
c.208C>A (p.Leu70Met)
c.205C>A (p.Leu69Met)
c.59-6237C>A (n.59-6237C>A)
n.423C>A
c.91C>A (p.Leu31Met)
n.470C>A
21g.34886950_34886956delinsGCACCTCCA2387297167RUNX1c.238_244delinsGAGGTGC (p.Glu80=)
c.157_163delinsGAGGTGC (p.Glu53=)
c.202_208delinsGAGGTGC (p.Glu68=)
c.199_205delinsGAGGTGC (p.Glu67=)
c.59-6243_59-6237delinsGAGGTGC (n.59-6243_59-6237delinsGAGGTGC)
n.417_423delinsGAGGTGC
c.85_91delinsGAGGTGC (p.Glu29=)
n.464_470delinsGAGGTGC
21g.34886951C>ACA512318896RUNX1c.243G>T (p.Val81=)
c.162G>T (p.Val54=)
c.207G>T (p.Val69=)
c.204G>T (p.Val68=)
c.59-6238G>T (n.59-6238G>T)
n.422G>T
c.90G>T (p.Val30=)
n.469G>T
21g.34886951C>GCA512318895RUNX1c.243G>C (p.Val81=)
c.162G>C (p.Val54=)
c.207G>C (p.Val69=)
c.204G>C (p.Val68=)
c.59-6238G>C (n.59-6238G>C)
n.422G>C
c.90G>C (p.Val30=)
n.469G>C
ClinVar
21g.34886951C>TCA512318894RUNX1c.243G>A (p.Val81=)
c.162G>A (p.Val54=)
c.207G>A (p.Val69=)
c.204G>A (p.Val68=)
c.59-6238G>A (n.59-6238G>A)
n.422G>A
c.90G>A (p.Val30=)
n.469G>A
ClinVar dbSNP
21g.34886952_34886953dupCA645607451RUNX1c.242_243dup (p.Leu82CysfsTer?)
c.161_162dup (p.Leu55CysfsTer?)
c.206_207dup (p.Leu70CysfsTer?)
c.203_204dup (p.Leu69CysfsTer?)
c.59-6239_59-6238dup (n.59-6239_59-6238dup)
n.421_422dup
c.89_90dup (p.Leu31CysfsTer?)
n.468_469dup
COSMIC
21g.34886955_34886960delCA10014564RUNX1c.238_243del (p.Glu80_Val81del)
c.157_162del (p.Glu53_Val54del)
c.202_207del (p.Glu68_Val69del)
c.199_204del (p.Glu67_Val68del)
c.59-6243_59-6238del (n.59-6243_59-6238del)
n.417_422del
c.85_90del (p.Glu29_Val30del)
n.464_469del
ClinVar dbSNP ExAC gnomAD v2
21g.34886952A=CA2387297168RUNX1c.242T= (p.Val81=)
c.161T= (p.Val54=)
c.206T= (p.Val69=)
c.203T= (p.Val68=)
c.59-6239T= (n.59-6239T=)
n.421T=
c.89T= (p.Val30=)
n.468T=
21g.34886952A>CCA410203819RUNX1c.242T>G (p.Val81Gly)
c.161T>G (p.Val54Gly)
c.206T>G (p.Val69Gly)
c.203T>G (p.Val68Gly)
c.59-6239T>G (n.59-6239T>G)
n.421T>G
c.89T>G (p.Val30Gly)
n.468T>G
dbSNP
21g.34886952A>GCA410203818RUNX1c.242T>C (p.Val81Ala)
c.161T>C (p.Val54Ala)
c.206T>C (p.Val69Ala)
c.203T>C (p.Val68Ala)
c.59-6239T>C (n.59-6239T>C)
n.421T>C
c.89T>C (p.Val30Ala)
n.468T>C
ClinVar dbSNP
21g.34886952A>TCA410203817RUNX1c.242T>A (p.Val81Glu)
c.161T>A (p.Val54Glu)
c.206T>A (p.Val69Glu)
c.203T>A (p.Val68Glu)
c.59-6239T>A (n.59-6239T>A)
n.421T>A
c.89T>A (p.Val30Glu)
n.468T>A
dbSNP
21g.34886952_34886954delinsACCCA2387297169RUNX1c.240_242delinsGGT (p.Glu80=)
c.159_161delinsGGT (p.Glu53=)
c.204_206delinsGGT (p.Glu68=)
c.201_203delinsGGT (p.Glu67=)
c.59-6241_59-6239delinsGGT (n.59-6241_59-6239delinsGGT)
n.419_421delinsGGT
c.87_89delinsGGT (p.Glu29=)
n.466_468delinsGGT
21g.34886953C>ACA410203820RUNX1c.241G>T (p.Val81Leu)
c.160G>T (p.Val54Leu)
c.205G>T (p.Val69Leu)
c.202G>T (p.Val68Leu)
c.59-6240G>T (n.59-6240G>T)
n.420G>T
c.88G>T (p.Val30Leu)
n.467G>T
dbSNP
21g.34886953C>GCA410203821RUNX1c.241G>C (p.Val81Leu)
c.160G>C (p.Val54Leu)
c.205G>C (p.Val69Leu)
c.202G>C (p.Val68Leu)
c.59-6240G>C (n.59-6240G>C)
n.420G>C
c.88G>C (p.Val30Leu)
n.467G>C
21g.34886953C>TCA410203822RUNX1c.241G>A (p.Val81Met)
c.160G>A (p.Val54Met)
c.205G>A (p.Val69Met)
c.202G>A (p.Val68Met)
c.59-6240G>A (n.59-6240G>A)
n.420G>A
c.88G>A (p.Val30Met)
n.467G>A
dbSNP
21g.34886953_34886954delCA658824422RUNX1c.240_241del (p.Glu80AspfsTer?)
c.159_160del (p.Glu53AspfsTer?)
c.204_205del (p.Glu68AspfsTer?)
c.201_202del (p.Glu67AspfsTer?)
c.59-6241_59-6240del (n.59-6241_59-6240del)
n.419_420del
c.87_88del (p.Glu29AspfsTer?)
n.466_467del
ClinVar dbSNP
21g.34886954dupCA645607452RUNX1c.241dup (p.Val81GlyfsTer?)
c.160dup (p.Val54GlyfsTer?)
c.205dup (p.Val69GlyfsTer?)
c.202dup (p.Val68GlyfsTer?)
c.59-6240dup (n.59-6240dup)
n.420dup
c.88dup (p.Val30GlyfsTer?)
n.467dup
COSMIC
21g.34886954delCA2017999289RUNX1c.241del (p.Val81CysfsTer?)
c.160del (p.Val54CysfsTer?)
c.205del (p.Val69CysfsTer?)
c.202del (p.Val68CysfsTer?)
c.59-6240del (n.59-6240del)
n.420del
c.88del (p.Val30CysfsTer?)
n.467del
21g.34886954C>ACA410203823RUNX1c.240G>T (p.Glu80Asp)
c.159G>T (p.Glu53Asp)
c.204G>T (p.Glu68Asp)
c.201G>T (p.Glu67Asp)
c.59-6241G>T (n.59-6241G>T)
n.419G>T
c.87G>T (p.Glu29Asp)
n.466G>T
21g.34886954C>GCA410203824RUNX1c.240G>C (p.Glu80Asp)
c.159G>C (p.Glu53Asp)
c.204G>C (p.Glu68Asp)
c.201G>C (p.Glu67Asp)
c.59-6241G>C (n.59-6241G>C)
n.419G>C
c.87G>C (p.Glu29Asp)
n.466G>C
21g.34886954C>TCA512318897RUNX1c.240G>A (p.Glu80=)
c.159G>A (p.Glu53=)
c.204G>A (p.Glu68=)
c.201G>A (p.Glu67=)
c.59-6241G>A (n.59-6241G>A)
n.419G>A
c.87G>A (p.Glu29=)
n.466G>A
21g.34886954_34886955insGCA512318898RUNX1c.239_240insC (p.Glu80AspfsTer?)
c.158_159insC (p.Glu53AspfsTer?)
c.203_204insC (p.Glu68AspfsTer?)
c.200_201insC (p.Glu67AspfsTer?)
c.59-6242_59-6241insC (n.59-6242_59-6241insC)
n.418_419insC
c.86_87insC (p.Glu29AspfsTer?)
n.465_466insC
21g.34886955T>ACA410203827RUNX1c.239A>T (p.Glu80Val)
c.158A>T (p.Glu53Val)
c.203A>T (p.Glu68Val)
c.200A>T (p.Glu67Val)
c.59-6242A>T (n.59-6242A>T)
n.418A>T
c.86A>T (p.Glu29Val)
n.465A>T
dbSNP
21g.34886955T>CCA410203826RUNX1c.239A>G (p.Glu80Gly)
c.158A>G (p.Glu53Gly)
c.203A>G (p.Glu68Gly)
c.200A>G (p.Glu67Gly)
c.59-6242A>G (n.59-6242A>G)
n.418A>G
c.86A>G (p.Glu29Gly)
n.465A>G
dbSNP
21g.34886955T>GCA410203825RUNX1c.239A>C (p.Glu80Ala)
c.158A>C (p.Glu53Ala)
c.203A>C (p.Glu68Ala)
c.200A>C (p.Glu67Ala)
c.59-6242A>C (n.59-6242A>C)
n.418A>C
c.86A>C (p.Glu29Ala)
n.465A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886955T=CA2387297170RUNX1c.239A= (p.Glu80=)
c.158A= (p.Glu53=)
c.203A= (p.Glu68=)
c.200A= (p.Glu67=)
c.59-6242A= (n.59-6242A=)
n.418A=
c.86A= (p.Glu29=)
n.465A=
21g.34886956C>ACA410203828RUNX1c.238G>T (p.Glu80Ter)
c.157G>T (p.Glu53Ter)
c.202G>T (p.Glu68Ter)
c.199G>T (p.Glu67Ter)
c.59-6243G>T (n.59-6243G>T)
n.417G>T
c.85G>T (p.Glu29Ter)
n.464G>T
dbSNP
21g.34886956C=CA2387297171RUNX1c.238G= (p.Glu80=)
c.157G= (p.Glu53=)
c.202G= (p.Glu68=)
c.199G= (p.Glu67=)
c.59-6243G= (n.59-6243G=)
n.417G=
c.85G= (p.Glu29=)
n.464G=
21g.34886956C>GCA410203829RUNX1c.238G>C (p.Glu80Gln)
c.157G>C (p.Glu53Gln)
c.202G>C (p.Glu68Gln)
c.199G>C (p.Glu67Gln)
c.59-6243G>C (n.59-6243G>C)
n.417G>C
c.85G>C (p.Glu29Gln)
n.464G>C
dbSNP
21g.34886956C>TCA10014565RUNX1c.238G>A (p.Glu80Lys)
c.157G>A (p.Glu53Lys)
c.202G>A (p.Glu68Lys)
c.199G>A (p.Glu67Lys)
c.59-6243G>A (n.59-6243G>A)
n.417G>A
c.85G>A (p.Glu29Lys)
n.464G>A
dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886957dupCA645607453RUNX1c.238dup (p.Glu80GlyfsTer?)
c.157dup (p.Glu53GlyfsTer?)
c.202dup (p.Glu68GlyfsTer?)
c.199dup (p.Glu67GlyfsTer?)
c.59-6243dup (n.59-6243dup)
n.417dup
c.85dup (p.Glu29GlyfsTer?)
n.464dup
COSMIC
21g.34886957delCA2737785213RUNX1c.238del (p.Glu80ArgfsTer?)
c.157del (p.Glu53ArgfsTer?)
c.202del (p.Glu68ArgfsTer?)
c.199del (p.Glu67ArgfsTer?)
c.59-6243del (n.59-6243del)
n.417del
c.85del (p.Glu29ArgfsTer?)
n.464del
dbSNP
21g.34886956_34886957insGCA512318902RUNX1c.237_238insC (p.Glu80ArgfsTer?)
c.156_157insC (p.Glu53ArgfsTer?)
c.201_202insC (p.Glu68ArgfsTer?)
c.198_199insC (p.Glu67ArgfsTer?)
c.59-6244_59-6243insC (n.59-6244_59-6243insC)
n.416_417insC
c.84_85insC (p.Glu29ArgfsTer?)
n.463_464insC
21g.34886957C>ACA512318900RUNX1c.237G>T (p.Val79=)
c.156G>T (p.Val52=)
c.201G>T (p.Val67=)
c.198G>T (p.Val66=)
c.59-6244G>T (n.59-6244G>T)
n.416G>T
c.84G>T (p.Val28=)
n.463G>T
21g.34886957C=CA2387297172RUNX1c.237G= (p.Val79=)
c.156G= (p.Val52=)
c.201G= (p.Val67=)
c.198G= (p.Val66=)
c.59-6244G= (n.59-6244G=)
n.416G=
c.84G= (p.Val28=)
n.463G=
21g.34886957C>GCA512318901RUNX1c.237G>C (p.Val79=)
c.156G>C (p.Val52=)
c.201G>C (p.Val67=)
c.198G>C (p.Val66=)
c.59-6244G>C (n.59-6244G>C)
n.416G>C
c.84G>C (p.Val28=)
n.463G>C
21g.34886957C>TCA512318899RUNX1c.237G>A (p.Val79=)
c.156G>A (p.Val52=)
c.201G>A (p.Val67=)
c.198G>A (p.Val66=)
c.59-6244G>A (n.59-6244G>A)
n.416G>A
c.84G>A (p.Val28=)
n.463G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886958A=CA2387297173RUNX1c.236T= (p.Val79=)
c.155T= (p.Val52=)
c.200T= (p.Val67=)
c.197T= (p.Val66=)
c.59-6245T= (n.59-6245T=)
n.415T=
c.83T= (p.Val28=)
n.462T=
21g.34886958A>CCA410203830RUNX1c.236T>G (p.Val79Gly)
c.155T>G (p.Val52Gly)
c.200T>G (p.Val67Gly)
c.197T>G (p.Val66Gly)
c.59-6245T>G (n.59-6245T>G)
n.415T>G
c.83T>G (p.Val28Gly)
n.462T>G
dbSNP
21g.34886958A>GCA410203831RUNX1c.236T>C (p.Val79Ala)
c.155T>C (p.Val52Ala)
c.200T>C (p.Val67Ala)
c.197T>C (p.Val66Ala)
c.59-6245T>C (n.59-6245T>C)
n.415T>C
c.83T>C (p.Val28Ala)
n.462T>C
ClinVar dbSNP
21g.34886958A>TCA410203832RUNX1c.236T>A (p.Val79Glu)
c.155T>A (p.Val52Glu)
c.200T>A (p.Val67Glu)
c.197T>A (p.Val66Glu)
c.59-6245T>A (n.59-6245T>A)
n.415T>A
c.83T>A (p.Val28Glu)
n.462T>A
ClinVar dbSNP gnomAD v4
21g.34886958dupCA891842380RUNX1c.236dup (p.Glu80GlyfsTer?)
c.155dup (p.Glu53GlyfsTer?)
c.200dup (p.Glu68GlyfsTer?)
c.197dup (p.Glu67GlyfsTer?)
c.59-6245dup (n.59-6245dup)
n.415dup
c.83dup (p.Glu29GlyfsTer?)
n.462dup
21g.34886959C>ACA410203833RUNX1c.235G>T (p.Val79Leu)
c.154G>T (p.Val52Leu)
c.199G>T (p.Val67Leu)
c.196G>T (p.Val66Leu)
c.59-6246G>T (n.59-6246G>T)
n.414G>T
c.82G>T (p.Val28Leu)
n.461G>T
21g.34886959C=CA2387297174RUNX1c.235G= (p.Val79=)
c.154G= (p.Val52=)
c.199G= (p.Val67=)
c.196G= (p.Val66=)
c.59-6246G= (n.59-6246G=)
n.414G=
c.82G= (p.Val28=)
n.461G=
21g.34886959C>GCA410203835RUNX1c.235G>C (p.Val79Leu)
c.154G>C (p.Val52Leu)
c.199G>C (p.Val67Leu)
c.196G>C (p.Val66Leu)
c.59-6246G>C (n.59-6246G>C)
n.414G>C
c.82G>C (p.Val28Leu)
n.461G>C
21g.34886959C>TCA410203834RUNX1c.235G>A (p.Val79Met)
c.154G>A (p.Val52Met)
c.199G>A (p.Val67Met)
c.196G>A (p.Val66Met)
c.59-6246G>A (n.59-6246G>A)
n.414G>A
c.82G>A (p.Val28Met)
n.461G>A
dbSNP gnomAD v2 gnomAD v4
21g.34886960C>ACA410203836RUNX1c.234G>T (p.Met78Ile)
c.153G>T (p.Met51Ile)
c.198G>T (p.Met66Ile)
c.195G>T (p.Met65Ile)
c.59-6247G>T (n.59-6247G>T)
n.413G>T
c.81G>T (p.Met27Ile)
n.460G>T
dbSNP
21g.34886960C>GCA410203837RUNX1c.234G>C (p.Met78Ile)
c.153G>C (p.Met51Ile)
c.198G>C (p.Met66Ile)
c.195G>C (p.Met65Ile)
c.59-6247G>C (n.59-6247G>C)
n.413G>C
c.81G>C (p.Met27Ile)
n.460G>C
gnomAD v4
21g.34886960C>TCA410203838RUNX1c.234G>A (p.Met78Ile)
c.153G>A (p.Met51Ile)
c.198G>A (p.Met66Ile)
c.195G>A (p.Met65Ile)
c.59-6247G>A (n.59-6247G>A)
n.413G>A
c.81G>A (p.Met27Ile)
n.460G>A
ClinVar dbSNP gnomAD v4
21g.34886961A=CA2387297175RUNX1c.233T= (p.Met78=)
c.152T= (p.Met51=)
c.197T= (p.Met66=)
c.194T= (p.Met65=)
c.59-6248T= (n.59-6248T=)
n.412T=
c.80T= (p.Met27=)
n.459T=
21g.34886961A>CCA410203839RUNX1c.233T>G (p.Met78Arg)
c.152T>G (p.Met51Arg)
c.197T>G (p.Met66Arg)
c.194T>G (p.Met65Arg)
c.59-6248T>G (n.59-6248T>G)
n.412T>G
c.80T>G (p.Met27Arg)
n.459T>G
dbSNP
21g.34886961A>GCA410203840RUNX1c.233T>C (p.Met78Thr)
c.152T>C (p.Met51Thr)
c.197T>C (p.Met66Thr)
c.194T>C (p.Met65Thr)
c.59-6248T>C (n.59-6248T>C)
n.412T>C
c.80T>C (p.Met27Thr)
n.459T>C
ClinVar dbSNP
21g.34886961A>TCA410203841RUNX1c.233T>A (p.Met78Lys)
c.152T>A (p.Met51Lys)
c.197T>A (p.Met66Lys)
c.194T>A (p.Met65Lys)
c.59-6248T>A (n.59-6248T>A)
n.412T>A
c.80T>A (p.Met27Lys)
n.459T>A
dbSNP
21g.34886961dupCA645607454RUNX1c.233dup (p.Met78IlefsTer?)
c.152dup (p.Met51IlefsTer?)
c.197dup (p.Met66IlefsTer?)
c.194dup (p.Met65IlefsTer?)
c.59-6248dup (n.59-6248dup)
n.412dup
c.80dup (p.Met27IlefsTer?)
n.459dup
COSMIC COSMIC
21g.34886962T>ACA10583885RUNX1c.232A>T (p.Met78Leu)
c.151A>T (p.Met51Leu)
c.196A>T (p.Met66Leu)
c.193A>T (p.Met65Leu)
c.59-6249A>T (n.59-6249A>T)
n.411A>T
c.79A>T (p.Met27Leu)
n.458A>T
ClinVar dbSNP
21g.34886962T>CCA410203842RUNX1c.232A>G (p.Met78Val)
c.151A>G (p.Met51Val)
c.196A>G (p.Met66Val)
c.193A>G (p.Met65Val)
c.59-6249A>G (n.59-6249A>G)
n.411A>G
c.79A>G (p.Met27Val)
n.458A>G
ClinVar dbSNP gnomAD v4
21g.34886962T>GCA410203843RUNX1c.232A>C (p.Met78Leu)
c.151A>C (p.Met51Leu)
c.196A>C (p.Met66Leu)
c.193A>C (p.Met65Leu)
c.59-6249A>C (n.59-6249A>C)
n.411A>C
c.79A>C (p.Met27Leu)
n.458A>C
ClinVar dbSNP gnomAD v4
21g.34886962T=CA2387297176RUNX1c.232A= (p.Met78=)
c.151A= (p.Met51=)
c.196A= (p.Met66=)
c.193A= (p.Met65=)
c.59-6249A= (n.59-6249A=)
n.411A=
c.79A= (p.Met27=)
n.458A=
21g.34886963G>ACA512318903RUNX1c.231C>T (p.Ser77=)
c.150C>T (p.Ser50=)
c.195C>T (p.Ser65=)
c.192C>T (p.Ser64=)
c.59-6250C>T (n.59-6250C>T)
n.410C>T
c.78C>T (p.Ser26=)
n.457C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886963G>CCA410203844RUNX1c.231C>G (p.Ser77Arg)
c.150C>G (p.Ser50Arg)
c.195C>G (p.Ser65Arg)
c.192C>G (p.Ser64Arg)
c.59-6250C>G (n.59-6250C>G)
n.410C>G
c.78C>G (p.Ser26Arg)
n.457C>G
dbSNP
21g.34886963G=CA2387297177RUNX1c.231C= (p.Ser77=)
c.150C= (p.Ser50=)
c.195C= (p.Ser65=)
c.192C= (p.Ser64=)
c.59-6250C= (n.59-6250C=)
n.410C=
c.78C= (p.Ser26=)
n.457C=
21g.34886963G>TCA410203845RUNX1c.231C>A (p.Ser77Arg)
c.150C>A (p.Ser50Arg)
c.195C>A (p.Ser65Arg)
c.192C>A (p.Ser64Arg)
c.59-6250C>A (n.59-6250C>A)
n.410C>A
c.78C>A (p.Ser26Arg)
n.457C>A
21g.34886964_34886968delCA2654380326RUNX1c.227_231del (p.Arg76HisfsTer?)
c.146_150del (p.Arg49HisfsTer?)
c.191_195del (p.Arg64HisfsTer?)
c.188_192del (p.Arg63HisfsTer?)
c.59-6254_59-6250del (n.59-6254_59-6250del)
n.406_410del
c.74_78del (p.Arg25HisfsTer?)
n.453_457del
gnomAD v4
21g.34886964C>ACA410203847RUNX1c.230G>T (p.Ser77Ile)
c.149G>T (p.Ser50Ile)
c.194G>T (p.Ser65Ile)
c.191G>T (p.Ser64Ile)
c.59-6251G>T (n.59-6251G>T)
n.409G>T
c.77G>T (p.Ser26Ile)
n.456G>T
dbSNP
21g.34886964C=CA2387297178RUNX1c.230G= (p.Ser77=)
c.149G= (p.Ser50=)
c.194G= (p.Ser65=)
c.191G= (p.Ser64=)
c.59-6251G= (n.59-6251G=)
n.409G=
c.77G= (p.Ser26=)
n.456G=
21g.34886964C>GCA410203848RUNX1c.230G>C (p.Ser77Thr)
c.149G>C (p.Ser50Thr)
c.194G>C (p.Ser65Thr)
c.191G>C (p.Ser64Thr)
c.59-6251G>C (n.59-6251G>C)
n.409G>C
c.77G>C (p.Ser26Thr)
n.456G>C
dbSNP
21g.34886964C>TCA410203846RUNX1c.230G>A (p.Ser77Asn)
c.149G>A (p.Ser50Asn)
c.194G>A (p.Ser65Asn)
c.191G>A (p.Ser64Asn)
c.59-6251G>A (n.59-6251G>A)
n.409G>A
c.77G>A (p.Ser26Asn)
n.456G>A
dbSNP gnomAD v2
21g.34886965T>ACA410203849RUNX1c.229A>T (p.Ser77Cys)
c.148A>T (p.Ser50Cys)
c.193A>T (p.Ser65Cys)
c.190A>T (p.Ser64Cys)
c.59-6252A>T (n.59-6252A>T)
n.408A>T
c.76A>T (p.Ser26Cys)
n.455A>T
dbSNP
21g.34886965T>CCA410203851RUNX1c.229A>G (p.Ser77Gly)
c.148A>G (p.Ser50Gly)
c.193A>G (p.Ser65Gly)
c.190A>G (p.Ser64Gly)
c.59-6252A>G (n.59-6252A>G)
n.408A>G
c.76A>G (p.Ser26Gly)
n.455A>G
COSMIC COSMIC
21g.34886965T>GCA410203850RUNX1c.229A>C (p.Ser77Arg)
c.148A>C (p.Ser50Arg)
c.193A>C (p.Ser65Arg)
c.190A>C (p.Ser64Arg)
c.59-6252A>C (n.59-6252A>C)
n.408A>C
c.76A>C (p.Ser26Arg)
n.455A>C
21g.34886966G>ACA512318905RUNX1c.228C>T (p.Arg76=)
c.147C>T (p.Arg49=)
c.192C>T (p.Arg64=)
c.189C>T (p.Arg63=)
c.59-6253C>T (n.59-6253C>T)
n.407C>T
c.75C>T (p.Arg25=)
n.454C>T
dbSNP
21g.34886966G>CCA512318906RUNX1c.228C>G (p.Arg76=)
c.147C>G (p.Arg49=)
c.192C>G (p.Arg64=)
c.189C>G (p.Arg63=)
c.59-6253C>G (n.59-6253C>G)
n.407C>G
c.75C>G (p.Arg25=)
n.454C>G
dbSNP
21g.34886966G>TCA512318904RUNX1c.228C>A (p.Arg76=)
c.147C>A (p.Arg49=)
c.192C>A (p.Arg64=)
c.189C>A (p.Arg63=)
c.59-6253C>A (n.59-6253C>A)
n.407C>A
c.75C>A (p.Arg25=)
n.454C>A
21g.34886966dupCA2697547499RUNX1c.228dup (p.Ser77GlnfsTer?)
c.147dup (p.Ser50GlnfsTer?)
c.192dup (p.Ser65GlnfsTer?)
c.189dup (p.Ser64GlnfsTer?)
c.59-6253dup (n.59-6253dup)
n.407dup
c.75dup (p.Ser26GlnfsTer?)
n.454dup
ClinVar
21g.34886967C>ACA410203852RUNX1c.227G>T (p.Arg76Leu)
c.146G>T (p.Arg49Leu)
c.191G>T (p.Arg64Leu)
c.188G>T (p.Arg63Leu)
c.59-6254G>T (n.59-6254G>T)
n.406G>T
c.74G>T (p.Arg25Leu)
n.453G>T
dbSNP
21g.34886967C=CA2387297179RUNX1c.227G= (p.Arg76=)
c.146G= (p.Arg49=)
c.191G= (p.Arg64=)
c.188G= (p.Arg63=)
c.59-6254G= (n.59-6254G=)
n.406G=
c.74G= (p.Arg25=)
n.453G=
21g.34886967C>GCA410203853RUNX1c.227G>C (p.Arg76Pro)
c.146G>C (p.Arg49Pro)
c.191G>C (p.Arg64Pro)
c.188G>C (p.Arg63Pro)
c.59-6254G>C (n.59-6254G>C)
n.406G>C
c.74G>C (p.Arg25Pro)
n.453G>C
ClinVar dbSNP gnomAD v4
21g.34886967C>TCA10014566RUNX1c.227G>A (p.Arg76His)
c.146G>A (p.Arg49His)
c.191G>A (p.Arg64His)
c.188G>A (p.Arg63His)
c.59-6254G>A (n.59-6254G>A)
n.406G>A
c.74G>A (p.Arg25His)
n.453G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
21g.34886968G>ACA410203854RUNX1c.226C>T (p.Arg76Cys)
c.145C>T (p.Arg49Cys)
c.190C>T (p.Arg64Cys)
c.187C>T (p.Arg63Cys)
c.59-6255C>T (n.59-6255C>T)
n.405C>T
c.73C>T (p.Arg25Cys)
n.452C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34886968G>CCA410203855RUNX1c.226C>G (p.Arg76Gly)
c.145C>G (p.Arg49Gly)
c.190C>G (p.Arg64Gly)
c.187C>G (p.Arg63Gly)
c.59-6255C>G (n.59-6255C>G)
n.405C>G
c.73C>G (p.Arg25Gly)
n.452C>G
dbSNP gnomAD v2 gnomAD v4
21g.34886968G=CA2387297180RUNX1c.226C= (p.Arg76=)
c.145C= (p.Arg49=)
c.190C= (p.Arg64=)
c.187C= (p.Arg63=)
c.59-6255C= (n.59-6255C=)
n.405C=
c.73C= (p.Arg25=)
n.452C=
21g.34886968G>TCA410203856RUNX1c.226C>A (p.Arg76Ser)
c.145C>A (p.Arg49Ser)
c.190C>A (p.Arg64Ser)
c.187C>A (p.Arg63Ser)
c.59-6255C>A (n.59-6255C>A)
n.405C>A
c.73C>A (p.Arg25Ser)
n.452C>A
dbSNP
21g.34886969G>ACA10014567RUNX1c.225C>T (p.Asp75=)
c.144C>T (p.Asp48=)
c.189C>T (p.Asp63=)
c.186C>T (p.Asp62=)
c.59-6256C>T (n.59-6256C>T)
n.404C>T
c.72C>T (p.Asp24=)
n.451C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.34886969G>CCA410203857RUNX1c.225C>G (p.Asp75Glu)
c.144C>G (p.Asp48Glu)
c.189C>G (p.Asp63Glu)
c.186C>G (p.Asp62Glu)
c.59-6256C>G (n.59-6256C>G)
n.404C>G
c.72C>G (p.Asp24Glu)
n.451C>G
dbSNP
21g.34886969G=CA2387297181RUNX1c.225C= (p.Asp75=)
c.144C= (p.Asp48=)
c.189C= (p.Asp63=)
c.186C= (p.Asp62=)
c.59-6256C= (n.59-6256C=)
n.404C=
c.72C= (p.Asp24=)
n.451C=
21g.34886969G>TCA410203858RUNX1c.225C>A (p.Asp75Glu)
c.144C>A (p.Asp48Glu)
c.189C>A (p.Asp63Glu)
c.186C>A (p.Asp62Glu)
c.59-6256C>A (n.59-6256C>A)
n.404C>A
c.72C>A (p.Asp24Glu)
n.451C>A
dbSNP
21g.34886970T>ACA410203859RUNX1c.224A>T (p.Asp75Val)
c.143A>T (p.Asp48Val)
c.188A>T (p.Asp63Val)
c.185A>T (p.Asp62Val)
c.59-6257A>T (n.59-6257A>T)
n.403A>T
c.71A>T (p.Asp24Val)
n.450A>T
dbSNP
21g.34886970T>CCA410203860RUNX1c.224A>G (p.Asp75Gly)
c.143A>G (p.Asp48Gly)
c.188A>G (p.Asp63Gly)
c.185A>G (p.Asp62Gly)
c.59-6257A>G (n.59-6257A>G)
n.403A>G
c.71A>G (p.Asp24Gly)
n.450A>G
21g.34886970T>GCA410203861RUNX1c.224A>C (p.Asp75Ala)
c.143A>C (p.Asp48Ala)
c.188A>C (p.Asp63Ala)
c.185A>C (p.Asp62Ala)
c.59-6257A>C (n.59-6257A>C)
n.403A>C
c.71A>C (p.Asp24Ala)
n.450A>C
dbSNP
21g.34886970_34887023delinsTCGCCGCTCCTCAGCTTGCCGGCCAGGGCAGCGCCGGCGTCCGGGGCGCCCAGCCA2387297182RUNX1c.171_224delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro57=)
c.90_143delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro30=)
c.135_188delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro45=)
c.132_185delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro44=)
c.59-6310_59-6257delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (n.59-6310_59-6257delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA)
n.350_403delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA
c.18_71delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro6=)
n.397_450delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA
21g.34886971C>ACA410203862RUNX1c.223G>T (p.Asp75Tyr)
c.142G>T (p.Asp48Tyr)
c.187G>T (p.Asp63Tyr)
c.184G>T (p.Asp62Tyr)
c.59-6258G>T (n.59-6258G>T)
n.402G>T
c.70G>T (p.Asp24Tyr)
n.449G>T
ClinVar dbSNP COSMIC
21g.34886971C=CA2387297183RUNX1c.223G= (p.Asp75=)
c.142G= (p.Asp48=)
c.187G= (p.Asp63=)
c.184G= (p.Asp62=)
c.59-6258G= (n.59-6258G=)
n.402G=
c.70G= (p.Asp24=)
n.449G=
21g.34886971C>GCA410203863RUNX1c.223G>C (p.Asp75His)
c.142G>C (p.Asp48His)
c.187G>C (p.Asp63His)
c.184G>C (p.Asp62His)
c.59-6258G>C (n.59-6258G>C)
n.402G>C
c.70G>C (p.Asp24His)
n.449G>C
21g.34886971C>TCA410203864RUNX1c.223G>A (p.Asp75Asn)
c.142G>A (p.Asp48Asn)
c.187G>A (p.Asp63Asn)
c.184G>A (p.Asp62Asn)
c.59-6258G>A (n.59-6258G>A)
n.402G>A
c.70G>A (p.Asp24Asn)
n.449G>A
dbSNP
21g.34886971_34886999delCA645607457RUNX1c.195_223del (p.Ala66ProfsTer?)
c.114_142del (p.Ala39ProfsTer?)
c.159_187del (p.Ala54ProfsTer?)
c.156_184del (p.Ala53ProfsTer?)
c.59-6286_59-6258del (n.59-6286_59-6258del)
n.374_402del
c.42_70del (p.Ala15ProfsTer?)
n.421_449del
COSMIC
21g.34886971_34887023delCA658824423RUNX1c.171_223del (p.Leu58ProfsTer?)
c.90_142del (p.Leu31ProfsTer?)
c.135_187del (p.Leu46ProfsTer?)
c.132_184del (p.Leu45ProfsTer?)
c.59-6310_59-6258del (n.59-6310_59-6258del)
n.350_402del
c.18_70del (p.Leu7ProfsTer?)
n.397_449del
ClinVar dbSNP
21g.34886972G>ACA512318907RUNX1c.222C>T (p.Gly74=)
c.141C>T (p.Gly47=)
c.186C>T (p.Gly62=)
c.183C>T (p.Gly61=)
c.59-6259C>T (n.59-6259C>T)
n.401C>T
c.69C>T (p.Gly23=)
n.448C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886972G>CCA512318909RUNX1c.222C>G (p.Gly74=)
c.141C>G (p.Gly47=)
c.186C>G (p.Gly62=)
c.183C>G (p.Gly61=)
c.59-6259C>G (n.59-6259C>G)
n.401C>G
c.69C>G (p.Gly23=)
n.448C>G
dbSNP
21g.34886972G=CA2387297184RUNX1c.222C= (p.Gly74=)
c.141C= (p.Gly47=)
c.186C= (p.Gly62=)
c.183C= (p.Gly61=)
c.59-6259C= (n.59-6259C=)
n.401C=
c.69C= (p.Gly23=)
n.448C=
21g.34886972G>TCA512318908RUNX1c.222C>A (p.Gly74=)
c.141C>A (p.Gly47=)
c.186C>A (p.Gly62=)
c.183C>A (p.Gly61=)
c.59-6259C>A (n.59-6259C>A)
n.401C>A
c.69C>A (p.Gly23=)
n.448C>A
21g.34886973C>ACA410203867RUNX1c.221G>T (p.Gly74Val)
c.140G>T (p.Gly47Val)
c.185G>T (p.Gly62Val)
c.182G>T (p.Gly61Val)
c.59-6260G>T (n.59-6260G>T)
n.400G>T
c.68G>T (p.Gly23Val)
n.447G>T
ClinVar
21g.34886973C>GCA410203866RUNX1c.221G>C (p.Gly74Ala)
c.140G>C (p.Gly47Ala)
c.185G>C (p.Gly62Ala)
c.182G>C (p.Gly61Ala)
c.59-6260G>C (n.59-6260G>C)
n.400G>C
c.68G>C (p.Gly23Ala)
n.447G>C
dbSNP
21g.34886973C>TCA410203865RUNX1c.221G>A (p.Gly74Asp)
c.140G>A (p.Gly47Asp)
c.185G>A (p.Gly62Asp)
c.182G>A (p.Gly61Asp)
c.59-6260G>A (n.59-6260G>A)
n.400G>A
c.68G>A (p.Gly23Asp)
n.447G>A
dbSNP
21g.34886974C>ACA410203868RUNX1c.220G>T (p.Gly74Cys)
c.139G>T (p.Gly47Cys)
c.184G>T (p.Gly62Cys)
c.181G>T (p.Gly61Cys)
c.59-6261G>T (n.59-6261G>T)
n.399G>T
c.67G>T (p.Gly23Cys)
n.446G>T
21g.34886974C=CA2387297185RUNX1c.220G= (p.Gly74=)
c.139G= (p.Gly47=)
c.184G= (p.Gly62=)
c.181G= (p.Gly61=)
c.59-6261G= (n.59-6261G=)
n.399G=
c.67G= (p.Gly23=)
n.446G=
21g.34886974C>GCA410203869RUNX1c.220G>C (p.Gly74Arg)
c.139G>C (p.Gly47Arg)
c.184G>C (p.Gly62Arg)
c.181G>C (p.Gly61Arg)
c.59-6261G>C (n.59-6261G>C)
n.399G>C
c.67G>C (p.Gly23Arg)
n.446G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.34886974C>TCA410203870RUNX1c.220G>A (p.Gly74Ser)
c.139G>A (p.Gly47Ser)
c.184G>A (p.Gly62Ser)
c.181G>A (p.Gly61Ser)
c.59-6261G>A (n.59-6261G>A)
n.399G>A
c.67G>A (p.Gly23Ser)
n.446G>A
21g.34886975G>ACA512318910RUNX1c.219C>T (p.Ser73=)
c.138C>T (p.Ser46=)
c.183C>T (p.Ser61=)
c.180C>T (p.Ser60=)
c.59-6262C>T (n.59-6262C>T)
n.398C>T
c.66C>T (p.Ser22=)
n.445C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.34886975G>CCA410203871RUNX1c.219C>G (p.Ser73Arg)
c.138C>G (p.Ser46Arg)
c.183C>G (p.Ser61Arg)
c.180C>G (p.Ser60Arg)
c.59-6262C>G (n.59-6262C>G)
n.398C>G
c.66C>G (p.Ser22Arg)
n.445C>G
ClinVar dbSNP gnomAD v4
21g.34886975G=CA2387297186RUNX1c.219C= (p.Ser73=)
c.138C= (p.Ser46=)
c.183C= (p.Ser61=)
c.180C= (p.Ser60=)
c.59-6262C= (n.59-6262C=)
n.398C=
c.66C= (p.Ser22=)
n.445C=
21g.34886975G>TCA410203872RUNX1c.219C>A (p.Ser73Arg)
c.138C>A (p.Ser46Arg)
c.183C>A (p.Ser61Arg)
c.180C>A (p.Ser60Arg)
c.59-6262C>A (n.59-6262C>A)
n.398C>A
c.66C>A (p.Ser22Arg)
n.445C>A
gnomAD v4
21g.34886976C>ACA410203873RUNX1c.218G>T (p.Ser73Ile)
c.137G>T (p.Ser46Ile)
c.182G>T (p.Ser61Ile)
c.179G>T (p.Ser60Ile)
c.59-6263G>T (n.59-6263G>T)
n.397G>T
c.65G>T (p.Ser22Ile)
n.444G>T
dbSNP
21g.34886976C>GCA410203874RUNX1c.218G>C (p.Ser73Thr)
c.137G>C (p.Ser46Thr)
c.182G>C (p.Ser61Thr)
c.179G>C (p.Ser60Thr)
c.59-6263G>C (n.59-6263G>C)
n.397G>C
c.65G>C (p.Ser22Thr)
n.444G>C
21g.34886976C>TCA410203875RUNX1c.218G>A (p.Ser73Asn)
c.137G>A (p.Ser46Asn)
c.182G>A (p.Ser61Asn)
c.179G>A (p.Ser60Asn)
c.59-6263G>A (n.59-6263G>A)
n.397G>A
c.65G>A (p.Ser22Asn)
n.444G>A
21g.34886977T>ACA410203876RUNX1c.217A>T (p.Ser73Cys)
c.136A>T (p.Ser46Cys)
c.181A>T (p.Ser61Cys)
c.178A>T (p.Ser60Cys)
c.59-6264A>T (n.59-6264A>T)
n.396A>T
c.64A>T (p.Ser22Cys)
n.443A>T
dbSNP
21g.34886977T>CCA410203877RUNX1c.217A>G (p.Ser73Gly)
c.136A>G (p.Ser46Gly)
c.181A>G (p.Ser61Gly)
c.178A>G (p.Ser60Gly)
c.59-6264A>G (n.59-6264A>G)
n.396A>G
c.64A>G (p.Ser22Gly)
n.443A>G
ClinVar dbSNP gnomAD v4
21g.34886977T>GCA410203878RUNX1c.217A>C (p.Ser73Arg)
c.136A>C (p.Ser46Arg)
c.181A>C (p.Ser61Arg)
c.178A>C (p.Ser60Arg)
c.59-6264A>C (n.59-6264A>C)
n.396A>C
c.64A>C (p.Ser22Arg)
n.443A>C
21g.34886977T=CA2387297187RUNX1c.217A= (p.Ser73=)
c.136A= (p.Ser46=)
c.181A= (p.Ser61=)
c.178A= (p.Ser60=)
c.59-6264A= (n.59-6264A=)
n.396A=
c.64A= (p.Ser22=)
n.443A=
21g.34886978C>ACA410203879RUNX1c.216G>T (p.Arg72Ser)
c.135G>T (p.Arg45Ser)
c.180G>T (p.Arg60Ser)
c.177G>T (p.Arg59Ser)
c.59-6265G>T (n.59-6265G>T)
n.395G>T
c.63G>T (p.Arg21Ser)
n.442G>T
21g.34886978C>GCA410203880RUNX1c.216G>C (p.Arg72Ser)
c.135G>C (p.Arg45Ser)
c.180G>C (p.Arg60Ser)
c.177G>C (p.Arg59Ser)
c.59-6265G>C (n.59-6265G>C)
n.395G>C
c.63G>C (p.Arg21Ser)
n.442G>C
21g.34886978C>TCA512318911RUNX1c.216G>A (p.Arg72=)
c.135G>A (p.Arg45=)
c.180G>A (p.Arg60=)
c.177G>A (p.Arg59=)
c.59-6265G>A (n.59-6265G>A)
n.395G>A
c.63G>A (p.Arg21=)
n.442G>A
ClinVar gnomAD v4
21g.34886978_34886979dupCA658656806RUNX1c.215_216dup (p.Ser73GlyfsTer?)
c.134_135dup (p.Ser46GlyfsTer?)
c.179_180dup (p.Ser61GlyfsTer?)
c.176_177dup (p.Ser60GlyfsTer?)
c.59-6266_59-6265dup (n.59-6266_59-6265dup)
n.394_395dup
c.62_63dup (p.Ser22GlyfsTer?)
n.441_442dup
ClinVar dbSNP
21g.34886979C>ACA410203882RUNX1c.215G>T (p.Arg72Met)
c.134G>T (p.Arg45Met)
c.179G>T (p.Arg60Met)
c.176G>T (p.Arg59Met)
c.59-6266G>T (n.59-6266G>T)
n.394G>T
c.62G>T (p.Arg21Met)
n.441G>T
dbSNP
21g.34886979C>GCA410203883RUNX1c.215G>C (p.Arg72Thr)
c.134G>C (p.Arg45Thr)
c.179G>C (p.Arg60Thr)
c.176G>C (p.Arg59Thr)
c.59-6266G>C (n.59-6266G>C)
n.394G>C
c.62G>C (p.Arg21Thr)
n.441G>C
21g.34886979C>TCA410203881RUNX1c.215G>A (p.Arg72Lys)
c.134G>A (p.Arg45Lys)
c.179G>A (p.Arg60Lys)
c.176G>A (p.Arg59Lys)
c.59-6266G>A (n.59-6266G>A)
n.394G>A
c.62G>A (p.Arg21Lys)
n.441G>A
dbSNP
21g.34886980T>ACA410203884RUNX1c.214A>T (p.Arg72Trp)
c.133A>T (p.Arg45Trp)
c.178A>T (p.Arg60Trp)
c.175A>T (p.Arg59Trp)
c.59-6267A>T (n.59-6267A>T)
n.393A>T
c.61A>T (p.Arg21Trp)
n.440A>T
dbSNP
21g.34886980T>CCA410203885RUNX1c.214A>G (p.Arg72Gly)
c.133A>G (p.Arg45Gly)
c.178A>G (p.Arg60Gly)
c.175A>G (p.Arg59Gly)
c.59-6267A>G (n.59-6267A>G)
n.393A>G
c.61A>G (p.Arg21Gly)
n.440A>G
dbSNP
21g.34886980T>GCA512318912RUNX1c.214A>C (p.Arg72=)
c.133A>C (p.Arg45=)
c.178A>C (p.Arg60=)
c.175A>C (p.Arg59=)
c.59-6267A>C (n.59-6267A>C)
n.393A>C
c.61A>C (p.Arg21=)
n.440A>C
21g.34886981C>ACA512318913RUNX1c.213G>T (p.Leu71=)
c.132G>T (p.Leu44=)
c.177G>T (p.Leu59=)
c.174G>T (p.Leu58=)
c.59-6268G>T (n.59-6268G>T)
n.392G>T
c.60G>T (p.Leu20=)
n.439G>T
dbSNP
21g.34886981C>GCA512318915RUNX1c.213G>C (p.Leu71=)
c.132G>C (p.Leu44=)
c.177G>C (p.Leu59=)
c.174G>C (p.Leu58=)
c.59-6268G>C (n.59-6268G>C)
n.392G>C
c.60G>C (p.Leu20=)
n.439G>C
dbSNP
21g.34886981C>TCA512318914RUNX1c.213G>A (p.Leu71=)
c.132G>A (p.Leu44=)
c.177G>A (p.Leu59=)
c.174G>A (p.Leu58=)
c.59-6268G>A (n.59-6268G>A)
n.392G>A
c.60G>A (p.Leu20=)
n.439G>A
ClinVar dbSNP

Number of alleles fetched