Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.34886940_34886967delinsTGGTCGGCCAGCACCTCCACCATGCTGC | CA2387297159 | RUNX1 | c.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 | |
21 | g.34886946_34886972del | CA2387297160 | RUNX1 | c.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 |
21 | g.34886943_34886945del | CA2737785031 | RUNX1 | c.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 |
21 | g.34886944_34886945dup | CA2695202283 | RUNX1 | c.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 | |
21 | g.34886945G>A | CA512318889 | RUNX1 | c.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 |
21 | g.34886945G>C | CA10014563 | RUNX1 | c.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 |
21 | g.34886945G= | CA2387297164 | RUNX1 | c.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= | |
21 | g.34886945G>T | CA512318888 | RUNX1 | c.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 |
21 | g.34886946G>A | CA410203806 | RUNX1 | c.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 |
21 | g.34886946G>C | CA410203808 | RUNX1 | c.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 | |
21 | g.34886946G= | CA2387297165 | RUNX1 | c.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= | |
21 | g.34886946G>T | CA410203807 | RUNX1 | c.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 | |
21 | g.34886947C>A | CA410203809 | RUNX1 | c.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 | |
21 | g.34886947C>G | CA410203810 | RUNX1 | c.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 |
21 | g.34886947C>T | CA410203811 | RUNX1 | c.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 |
21 | g.34886948dup | CA2499225883 | RUNX1 | c.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 |
21 | g.34886948C>A | CA512318891 | RUNX1 | c.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 | |
21 | g.34886948C= | CA2387297166 | RUNX1 | c.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= | |
21 | g.34886948C>G | CA512318892 | RUNX1 | c.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 | |
21 | g.34886948C>T | CA512318890 | RUNX1 | c.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 |
21 | g.34886949A>C | CA410203812 | RUNX1 | c.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 |
21 | g.34886949A>G | CA410203813 | RUNX1 | c.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 |
21 | g.34886949A>T | CA410203814 | RUNX1 | c.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 |
21 | g.34886949_34886950insAGCAA | CA645607450 | RUNX1 | c.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 |
21 | g.34886949dup | CA2740097782 | RUNX1 | c.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 | |
21 | g.34886950G>A | CA512318893 | RUNX1 | c.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 |
21 | g.34886950G>C | CA410203815 | RUNX1 | c.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 | |
21 | g.34886950G>T | CA410203816 | RUNX1 | c.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 | |
21 | g.34886950_34886956delinsGCACCTC | CA2387297167 | RUNX1 | c.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 | |
21 | g.34886951C>A | CA512318896 | RUNX1 | c.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 | |
21 | g.34886951C>G | CA512318895 | RUNX1 | c.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 |
21 | g.34886951C>T | CA512318894 | RUNX1 | c.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 |
21 | g.34886952_34886953dup | CA645607451 | RUNX1 | c.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 |
21 | g.34886955_34886960del | CA10014564 | RUNX1 | c.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 |
21 | g.34886952A= | CA2387297168 | RUNX1 | c.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= | |
21 | g.34886952A>C | CA410203819 | RUNX1 | c.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 |
21 | g.34886952A>G | CA410203818 | RUNX1 | c.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 |
21 | g.34886952A>T | CA410203817 | RUNX1 | c.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 |
21 | g.34886952_34886954delinsACC | CA2387297169 | RUNX1 | c.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 | |
21 | g.34886953C>A | CA410203820 | RUNX1 | c.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 |
21 | g.34886953C>G | CA410203821 | RUNX1 | c.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 | |
21 | g.34886953C>T | CA410203822 | RUNX1 | c.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 |
21 | g.34886953_34886954del | CA658824422 | RUNX1 | c.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 |
21 | g.34886954dup | CA645607452 | RUNX1 | c.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 |
21 | g.34886954del | CA2017999289 | RUNX1 | c.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 | |
21 | g.34886954C>A | CA410203823 | RUNX1 | c.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 | |
21 | g.34886954C>G | CA410203824 | RUNX1 | c.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 | |
21 | g.34886954C>T | CA512318897 | RUNX1 | c.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 | |
21 | g.34886954_34886955insG | CA512318898 | RUNX1 | c.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 | |
21 | g.34886955T>A | CA410203827 | RUNX1 | c.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 |
21 | g.34886955T>C | CA410203826 | RUNX1 | c.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 |
21 | g.34886955T>G | CA410203825 | RUNX1 | c.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 |
21 | g.34886955T= | CA2387297170 | RUNX1 | c.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= | |
21 | g.34886956C>A | CA410203828 | RUNX1 | c.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 |
21 | g.34886956C= | CA2387297171 | RUNX1 | c.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= | |
21 | g.34886956C>G | CA410203829 | RUNX1 | c.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 |
21 | g.34886956C>T | CA10014565 | RUNX1 | c.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 |
21 | g.34886957dup | CA645607453 | RUNX1 | c.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 |
21 | g.34886957del | CA2737785213 | RUNX1 | c.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 |
21 | g.34886956_34886957insG | CA512318902 | RUNX1 | c.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 | |
21 | g.34886957C>A | CA512318900 | RUNX1 | c.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 | |
21 | g.34886957C= | CA2387297172 | RUNX1 | c.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= | |
21 | g.34886957C>G | CA512318901 | RUNX1 | c.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 | |
21 | g.34886957C>T | CA512318899 | RUNX1 | c.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 |
21 | g.34886958A= | CA2387297173 | RUNX1 | c.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= | |
21 | g.34886958A>C | CA410203830 | RUNX1 | c.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 |
21 | g.34886958A>G | CA410203831 | RUNX1 | c.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 |
21 | g.34886958A>T | CA410203832 | RUNX1 | c.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 |
21 | g.34886958dup | CA891842380 | RUNX1 | c.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 | |
21 | g.34886959C>A | CA410203833 | RUNX1 | c.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 | |
21 | g.34886959C= | CA2387297174 | RUNX1 | c.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= | |
21 | g.34886959C>G | CA410203835 | RUNX1 | c.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 | |
21 | g.34886959C>T | CA410203834 | RUNX1 | c.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 |
21 | g.34886959_34886961delinsAGCGTCC | CA2838033013 | RUNX1 | c.233_235delinsGGACGCT (p.Met78ArgfsTer?) c.152_154delinsGGACGCT (p.Met51ArgfsTer?) c.197_199delinsGGACGCT (p.Met66ArgfsTer?) c.194_196delinsGGACGCT (p.Met65ArgfsTer?) c.59-6248_59-6246delinsGGACGCT (n.59-6248_59-6246delinsGGACGCT) n.412_414delinsGGACGCT c.80_82delinsGGACGCT (p.Met27ArgfsTer?) n.459_461delinsGGACGCT | |
21 | g.34886960C>A | CA410203836 | RUNX1 | c.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 |
21 | g.34886960C>G | CA410203837 | RUNX1 | c.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 |
21 | g.34886960C>T | CA410203838 | RUNX1 | c.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 |
21 | g.34886961A= | CA2387297175 | RUNX1 | c.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= | |
21 | g.34886961A>C | CA410203839 | RUNX1 | c.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 |
21 | g.34886961A>G | CA410203840 | RUNX1 | c.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 |
21 | g.34886961A>T | CA410203841 | RUNX1 | c.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 |
21 | g.34886961dup | CA645607454 | RUNX1 | c.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 |
21 | g.34886962T>A | CA10583885 | RUNX1 | c.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 |
21 | g.34886962T>C | CA410203842 | RUNX1 | c.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 |
21 | g.34886962T>G | CA410203843 | RUNX1 | c.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 |
21 | g.34886962T= | CA2387297176 | RUNX1 | c.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= | |
21 | g.34886963G>A | CA512318903 | RUNX1 | c.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 |
21 | g.34886963G>C | CA410203844 | RUNX1 | c.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 |
21 | g.34886963G= | CA2387297177 | RUNX1 | c.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= | |
21 | g.34886963G>T | CA410203845 | RUNX1 | c.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 | |
21 | g.34886964_34886968del | CA2654380326 | RUNX1 | c.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 |
21 | g.34886964C>A | CA410203847 | RUNX1 | c.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 |
21 | g.34886964C= | CA2387297178 | RUNX1 | c.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= | |
21 | g.34886964C>G | CA410203848 | RUNX1 | c.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 |
21 | g.34886964C>T | CA410203846 | RUNX1 | c.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 |
21 | g.34886965T>A | CA410203849 | RUNX1 | c.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 |
21 | g.34886965T>C | CA410203851 | RUNX1 | c.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 |
21 | g.34886965T>G | CA410203850 | RUNX1 | c.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 | |
21 | g.34886966G>A | CA512318905 | RUNX1 | c.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 |
21 | g.34886966G>C | CA512318906 | RUNX1 | c.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 |
21 | g.34886966G>T | CA512318904 | RUNX1 | c.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 | |
21 | g.34886966_34886967insAGGAG | CA2839723816 | RUNX1 | c.228_229insTCCTC (p.Met78SerfsTer?) c.147_148insTCCTC (p.Met51SerfsTer?) c.192_193insTCCTC (p.Met66SerfsTer?) c.189_190insTCCTC (p.Met65SerfsTer?) c.59-6253_59-6252insTCCTC (n.59-6253_59-6252insTCCTC) n.407_408insTCCTC c.75_76insTCCTC (p.Met27SerfsTer?) n.454_455insTCCTC | |
21 | g.34886966dup | CA2697547499 | RUNX1 | c.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 |
21 | g.34886967C>A | CA410203852 | RUNX1 | c.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 |
21 | g.34886967C= | CA2387297179 | RUNX1 | c.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= | |
21 | g.34886967C>G | CA410203853 | RUNX1 | c.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 |
21 | g.34886967C>T | CA10014566 | RUNX1 | c.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 |
21 | g.34886968G>A | CA410203854 | RUNX1 | c.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 |
21 | g.34886968G>C | CA410203855 | RUNX1 | c.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 |
21 | g.34886968G= | CA2387297180 | RUNX1 | c.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= | |
21 | g.34886968G>T | CA410203856 | RUNX1 | c.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 |
21 | g.34886969G>A | CA10014567 | RUNX1 | c.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 |
21 | g.34886969G>C | CA410203857 | RUNX1 | c.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 |
21 | g.34886969G= | CA2387297181 | RUNX1 | c.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= | |
21 | g.34886969G>T | CA410203858 | RUNX1 | c.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 |
21 | g.34886969_34886970insCGACCGCAGCATGGTGGAGGTGC | CA2841244241 | RUNX1 | c.224_225insGCACCTCCACCATGCTGCGGTCG (p.Asp75GlufsTer?) c.143_144insGCACCTCCACCATGCTGCGGTCG (p.Asp48GlufsTer?) c.188_189insGCACCTCCACCATGCTGCGGTCG (p.Asp63GlufsTer?) c.185_186insGCACCTCCACCATGCTGCGGTCG (p.Asp62GlufsTer?) c.59-6257_59-6256insGCACCTCCACCATGCTGCGGTCG (n.59-6257_59-6256insGCACCTCCACCATGCTGCGGTCG) n.403_404insGCACCTCCACCATGCTGCGGTCG c.71_72insGCACCTCCACCATGCTGCGGTCG (p.Asp24GlufsTer?) n.450_451insGCACCTCCACCATGCTGCGGTCG | |
21 | g.34886970T>A | CA410203859 | RUNX1 | c.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 |
21 | g.34886970T>C | CA410203860 | RUNX1 | c.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 | |
21 | g.34886970T>G | CA410203861 | RUNX1 | c.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 |
21 | g.34886970_34887023delinsTCGCCGCTCCTCAGCTTGCCGGCCAGGGCAGCGCCGGCGTCCGGGGCGCCCAGC | CA2387297182 | RUNX1 | c.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 | |
21 | g.34886971C>A | CA410203862 | RUNX1 | c.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 |
21 | g.34886971C= | CA2387297183 | RUNX1 | c.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= | |
21 | g.34886971C>G | CA410203863 | RUNX1 | c.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 | |
21 | g.34886971C>T | CA410203864 | RUNX1 | c.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 |
21 | g.34886971_34886999del | CA645607457 | RUNX1 | c.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 |
21 | g.34886971_34887023del | CA658824423 | RUNX1 | c.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 |
21 | g.34886972G>A | CA512318907 | RUNX1 | c.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 |
21 | g.34886972G>C | CA512318909 | RUNX1 | c.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 |
21 | g.34886972G= | CA2387297184 | RUNX1 | c.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= | |
21 | g.34886972G>T | CA512318908 | RUNX1 | c.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 | |
21 | g.34886973C>A | CA410203867 | RUNX1 | c.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 |
21 | g.34886973C>G | CA410203866 | RUNX1 | c.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 |
21 | g.34886973C>T | CA410203865 | RUNX1 | c.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 |
21 | g.34886974C>A | CA410203868 | RUNX1 | c.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 | |
21 | g.34886974C= | CA2387297185 | RUNX1 | c.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= | |
21 | g.34886974C>G | CA410203869 | RUNX1 | c.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 |
21 | g.34886974C>T | CA410203870 | RUNX1 | c.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 | |
21 | g.34886975G>A | CA512318910 | RUNX1 | c.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 |
21 | g.34886975G>C | CA410203871 | RUNX1 | c.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 |
21 | g.34886975G= | CA2387297186 | RUNX1 | c.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= | |
21 | g.34886975G>T | CA410203872 | RUNX1 | c.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 |
21 | g.34886976C>A | CA410203873 | RUNX1 | c.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 |
21 | g.34886976C>G | CA410203874 | RUNX1 | c.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 | |
21 | g.34886976C>T | CA410203875 | RUNX1 | c.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 | |
21 | g.34886977T>A | CA410203876 | RUNX1 | c.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 |
21 | g.34886977T>C | CA410203877 | RUNX1 | c.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 |
21 | g.34886977T>G | CA410203878 | RUNX1 | c.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 | |
21 | g.34886977T= | CA2387297187 | RUNX1 | c.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= | |
21 | g.34886978C>A | CA410203879 | RUNX1 | c.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 | |
21 | g.34886978C>G | CA410203880 | RUNX1 | c.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 | |
21 | g.34886978C>T | CA512318911 | RUNX1 | c.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 |
21 | g.34886978_34886979dup | CA658656806 | RUNX1 | c.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 |
21 | g.34886979C>A | CA410203882 | RUNX1 | c.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 |
21 | g.34886979C>G | CA410203883 | RUNX1 | c.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 | |
21 | g.34886979C>T | CA410203881 | RUNX1 | c.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 |
21 | g.34886980T>A | CA410203884 | RUNX1 | c.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 |
21 | g.34886980T>C | CA410203885 | RUNX1 | c.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 |
21 | g.34886980T>G | CA512318912 | RUNX1 | c.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 | |
21 | g.34886981C>A | CA512318913 | RUNX1 | c.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 |
21 | g.34886981C>G | CA512318915 | RUNX1 | c.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 |
21 | g.34886981C>T | CA512318914 | RUNX1 | c.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 |
21 | g.34886982A>C | CA410203886 | RUNX1 | c.212T>G (p.Leu71Arg) c.131T>G (p.Leu44Arg) c.176T>G (p.Leu59Arg) c.173T>G (p.Leu58Arg) c.59-6269T>G (n.59-6269T>G) n.391T>G c.59T>G (p.Leu20Arg) n.438T>G | |
21 | g.34886982A>G | CA410203887 | RUNX1 | c.212T>C (p.Leu71Pro) c.131T>C (p.Leu44Pro) c.176T>C (p.Leu59Pro) c.173T>C (p.Leu58Pro) c.59-6269T>C (n.59-6269T>C) n.391T>C c.59T>C (p.Leu20Pro) n.438T>C | dbSNP |
21 | g.34886982A>T | CA410203888 | RUNX1 | c.212T>A (p.Leu71Gln) c.131T>A (p.Leu44Gln) c.176T>A (p.Leu59Gln) c.173T>A (p.Leu58Gln) c.59-6269T>A (n.59-6269T>A) n.391T>A c.59T>A (p.Leu20Gln) n.438T>A | |
21 | g.34886983G>A | CA512318916 | RUNX1 | c.211C>T (p.Leu71=) c.130C>T (p.Leu44=) c.175C>T (p.Leu59=) c.172C>T (p.Leu58=) c.59-6270C>T (n.59-6270C>T) n.390C>T c.58C>T (p.Leu20=) n.437C>T | dbSNP gnomAD v4 |
21 | g.34886983G>C | CA410203889 | RUNX1 | c.211C>G (p.Leu71Val) c.130C>G (p.Leu44Val) c.175C>G (p.Leu59Val) c.172C>G (p.Leu58Val) c.59-6270C>G (n.59-6270C>G) n.390C>G c.58C>G (p.Leu20Val) n.437C>G | ClinVar dbSNP |
21 | g.34886983G>T | CA410203890 | RUNX1 | c.211C>A (p.Leu71Met) c.130C>A (p.Leu44Met) c.175C>A (p.Leu59Met) c.172C>A (p.Leu58Met) c.59-6270C>A (n.59-6270C>A) n.390C>A c.58C>A (p.Leu20Met) n.437C>A | COSMIC COSMIC |
21 | g.34886984C>A | CA410203891 | RUNX1 | c.210G>T (p.Lys70Asn) c.129G>T (p.Lys43Asn) c.174G>T (p.Lys58Asn) c.171G>T (p.Lys57Asn) c.59-6271G>T (n.59-6271G>T) n.389G>T c.57G>T (p.Lys19Asn) n.436G>T | dbSNP |
21 | g.34886984C>G | CA410203892 | RUNX1 | c.210G>C (p.Lys70Asn) c.129G>C (p.Lys43Asn) c.174G>C (p.Lys58Asn) c.171G>C (p.Lys57Asn) c.59-6271G>C (n.59-6271G>C) n.389G>C c.57G>C (p.Lys19Asn) n.436G>C | dbSNP |
21 | g.34886984C>T | CA512318917 | RUNX1 | c.210G>A (p.Lys70=) c.129G>A (p.Lys43=) c.174G>A (p.Lys58=) c.171G>A (p.Lys57=) c.59-6271G>A (n.59-6271G>A) n.389G>A c.57G>A (p.Lys19=) n.436G>A | ClinVar dbSNP |
21 | g.34886985T>A | CA410203893 | RUNX1 | c.209A>T (p.Lys70Met) c.128A>T (p.Lys43Met) c.173A>T (p.Lys58Met) c.170A>T (p.Lys57Met) c.59-6272A>T (n.59-6272A>T) n.388A>T c.56A>T (p.Lys19Met) n.435A>T | dbSNP gnomAD v4 |
21 | g.34886985T>C | CA410203895 | RUNX1 | c.209A>G (p.Lys70Arg) c.128A>G (p.Lys43Arg) c.173A>G (p.Lys58Arg) c.170A>G (p.Lys57Arg) c.59-6272A>G (n.59-6272A>G) n.388A>G c.56A>G (p.Lys19Arg) n.435A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886985T>G | CA410203897 | RUNX1 | c.209A>C (p.Lys70Thr) c.128A>C (p.Lys43Thr) c.173A>C (p.Lys58Thr) c.170A>C (p.Lys57Thr) c.59-6272A>C (n.59-6272A>C) n.388A>C c.56A>C (p.Lys19Thr) n.435A>C | ClinVar dbSNP |
21 | g.34886985T= | CA2387297188 | RUNX1 | c.209A= (p.Lys70=) c.128A= (p.Lys43=) c.173A= (p.Lys58=) c.170A= (p.Lys57=) c.59-6272A= (n.59-6272A=) n.388A= c.56A= (p.Lys19=) n.435A= | |
21 | g.34886986T>A | CA410203903 | RUNX1 | c.208A>T (p.Lys70Ter) c.127A>T (p.Lys43Ter) c.172A>T (p.Lys58Ter) c.169A>T (p.Lys57Ter) c.59-6273A>T (n.59-6273A>T) n.387A>T c.55A>T (p.Lys19Ter) n.434A>T | dbSNP |
21 | g.34886986T>C | CA410203899 | RUNX1 | c.208A>G (p.Lys70Glu) c.127A>G (p.Lys43Glu) c.172A>G (p.Lys58Glu) c.169A>G (p.Lys57Glu) c.59-6273A>G (n.59-6273A>G) n.387A>G c.55A>G (p.Lys19Glu) n.434A>G | |
21 | g.34886986T>G | CA410203901 | RUNX1 | c.208A>C (p.Lys70Gln) c.127A>C (p.Lys43Gln) c.172A>C (p.Lys58Gln) c.169A>C (p.Lys57Gln) c.59-6273A>C (n.59-6273A>C) n.387A>C c.55A>C (p.Lys19Gln) n.434A>C | gnomAD v4 |
21 | g.34886987G>A | CA512318918 | RUNX1 | c.207C>T (p.Gly69=) c.126C>T (p.Gly42=) c.171C>T (p.Gly57=) c.168C>T (p.Gly56=) c.59-6274C>T (n.59-6274C>T) n.386C>T c.54C>T (p.Gly18=) n.433C>T | dbSNP |
21 | g.34886987G>C | CA512318920 | RUNX1 | c.207C>G (p.Gly69=) c.126C>G (p.Gly42=) c.171C>G (p.Gly57=) c.168C>G (p.Gly56=) c.59-6274C>G (n.59-6274C>G) n.386C>G c.54C>G (p.Gly18=) n.433C>G | |
21 | g.34886987G>T | CA512318919 | RUNX1 | c.207C>A (p.Gly69=) c.126C>A (p.Gly42=) c.171C>A (p.Gly57=) c.168C>A (p.Gly56=) c.59-6274C>A (n.59-6274C>A) n.386C>A c.54C>A (p.Gly18=) n.433C>A | |
21 | g.34886988C>A | CA10014568 | RUNX1 | c.206G>T (p.Gly69Val) c.125G>T (p.Gly42Val) c.170G>T (p.Gly57Val) c.167G>T (p.Gly56Val) c.59-6275G>T (n.59-6275G>T) n.385G>T c.53G>T (p.Gly18Val) n.432G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34886988C= | CA2387297189 | RUNX1 | c.206G= (p.Gly69=) c.125G= (p.Gly42=) c.170G= (p.Gly57=) c.167G= (p.Gly56=) c.59-6275G= (n.59-6275G=) n.385G= c.53G= (p.Gly18=) n.432G= | |
21 | g.34886988C>G | CA410203905 | RUNX1 | c.206G>C (p.Gly69Ala) c.125G>C (p.Gly42Ala) c.170G>C (p.Gly57Ala) c.167G>C (p.Gly56Ala) c.59-6275G>C (n.59-6275G>C) n.385G>C c.53G>C (p.Gly18Ala) n.432G>C | dbSNP |
21 | g.34886988C>T | CA410203907 | RUNX1 | c.206G>A (p.Gly69Asp) c.125G>A (p.Gly42Asp) c.170G>A (p.Gly57Asp) c.167G>A (p.Gly56Asp) c.59-6275G>A (n.59-6275G>A) n.385G>A c.53G>A (p.Gly18Asp) n.432G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34886989C>A | CA410203909 | RUNX1 | c.205G>T (p.Gly69Cys) c.124G>T (p.Gly42Cys) c.169G>T (p.Gly57Cys) c.166G>T (p.Gly56Cys) c.59-6276G>T (n.59-6276G>T) n.384G>T c.52G>T (p.Gly18Cys) n.431G>T | dbSNP |
21 | g.34886989C= | CA2387297190 | RUNX1 | c.205G= (p.Gly69=) c.124G= (p.Gly42=) c.169G= (p.Gly57=) c.166G= (p.Gly56=) c.59-6276G= (n.59-6276G=) n.384G= c.52G= (p.Gly18=) n.431G= | |
21 | g.34886989C>G | CA10014569 | RUNX1 | c.205G>C (p.Gly69Arg) c.124G>C (p.Gly42Arg) c.169G>C (p.Gly57Arg) c.166G>C (p.Gly56Arg) c.59-6276G>C (n.59-6276G>C) n.384G>C c.52G>C (p.Gly18Arg) n.431G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.34886989C>T | CA320642805 | RUNX1 | c.205G>A (p.Gly69Ser) c.124G>A (p.Gly42Ser) c.169G>A (p.Gly57Ser) c.166G>A (p.Gly56Ser) c.59-6276G>A (n.59-6276G>A) n.384G>A c.52G>A (p.Gly18Ser) n.431G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34886990G>A | CA320642815 | RUNX1 | c.204C>T (p.Ala68=) c.123C>T (p.Ala41=) c.168C>T (p.Ala56=) c.165C>T (p.Ala55=) c.59-6277C>T (n.59-6277C>T) n.383C>T c.51C>T (p.Ala17=) n.430C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886990G>C | CA10014570 | RUNX1 | c.204C>G (p.Ala68=) c.123C>G (p.Ala41=) c.168C>G (p.Ala56=) c.165C>G (p.Ala55=) c.59-6277C>G (n.59-6277C>G) n.383C>G c.51C>G (p.Ala17=) n.430C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886990G= | CA2387297191 | RUNX1 | c.204C= (p.Ala68=) c.123C= (p.Ala41=) c.168C= (p.Ala56=) c.165C= (p.Ala55=) c.59-6277C= (n.59-6277C=) n.383C= c.51C= (p.Ala17=) n.430C= | |
21 | g.34886990G>T | CA512318921 | RUNX1 | c.204C>A (p.Ala68=) c.123C>A (p.Ala41=) c.168C>A (p.Ala56=) c.165C>A (p.Ala55=) c.59-6277C>A (n.59-6277C>A) n.383C>A c.51C>A (p.Ala17=) n.430C>A | gnomAD v4 |
21 | g.34886991G>A | CA320642839 | RUNX1 | c.203C>T (p.Ala68Val) c.122C>T (p.Ala41Val) c.167C>T (p.Ala56Val) c.164C>T (p.Ala55Val) c.59-6278C>T (n.59-6278C>T) n.382C>T c.50C>T (p.Ala17Val) n.429C>T | dbSNP |
21 | g.34886991G>C | CA410203914 | RUNX1 | c.203C>G (p.Ala68Gly) c.122C>G (p.Ala41Gly) c.167C>G (p.Ala56Gly) c.164C>G (p.Ala55Gly) c.59-6278C>G (n.59-6278C>G) n.382C>G c.50C>G (p.Ala17Gly) n.429C>G | |
21 | g.34886991G= | CA2387297192 | RUNX1 | c.203C= (p.Ala68=) c.122C= (p.Ala41=) c.167C= (p.Ala56=) c.164C= (p.Ala55=) c.59-6278C= (n.59-6278C=) n.382C= c.50C= (p.Ala17=) n.429C= | |
21 | g.34886991G>T | CA410203916 | RUNX1 | c.203C>A (p.Ala68Asp) c.122C>A (p.Ala41Asp) c.167C>A (p.Ala56Asp) c.164C>A (p.Ala55Asp) c.59-6278C>A (n.59-6278C>A) n.382C>A c.50C>A (p.Ala17Asp) n.429C>A | gnomAD v4 |
21 | g.34886992C>A | CA410203921 | RUNX1 | c.202G>T (p.Ala68Ser) c.121G>T (p.Ala41Ser) c.166G>T (p.Ala56Ser) c.163G>T (p.Ala55Ser) c.59-6279G>T (n.59-6279G>T) n.381G>T c.49G>T (p.Ala17Ser) n.428G>T | dbSNP |
21 | g.34886992C>G | CA410203918 | RUNX1 | c.202G>C (p.Ala68Pro) c.121G>C (p.Ala41Pro) c.166G>C (p.Ala56Pro) c.163G>C (p.Ala55Pro) c.59-6279G>C (n.59-6279G>C) n.381G>C c.49G>C (p.Ala17Pro) n.428G>C | dbSNP gnomAD v4 |
21 | g.34886992C>T | CA410203917 | RUNX1 | c.202G>A (p.Ala68Thr) c.121G>A (p.Ala41Thr) c.166G>A (p.Ala56Thr) c.163G>A (p.Ala55Thr) c.59-6279G>A (n.59-6279G>A) n.381G>A c.49G>A (p.Ala17Thr) n.428G>A | dbSNP |
21 | g.34886993C>A | CA512318923 | RUNX1 | c.201G>T (p.Leu67=) c.120G>T (p.Leu40=) c.165G>T (p.Leu55=) c.162G>T (p.Leu54=) c.59-6280G>T (n.59-6280G>T) n.380G>T c.48G>T (p.Leu16=) n.427G>T | dbSNP |
21 | g.34886993C>G | CA512318922 | RUNX1 | c.201G>C (p.Leu67=) c.120G>C (p.Leu40=) c.165G>C (p.Leu55=) c.162G>C (p.Leu54=) c.59-6280G>C (n.59-6280G>C) n.380G>C c.48G>C (p.Leu16=) n.427G>C | |
21 | g.34886993C>T | CA512318924 | RUNX1 | c.201G>A (p.Leu67=) c.120G>A (p.Leu40=) c.165G>A (p.Leu55=) c.162G>A (p.Leu54=) c.59-6280G>A (n.59-6280G>A) n.380G>A c.48G>A (p.Leu16=) n.427G>A | dbSNP |
21 | g.34886994A= | CA2387297193 | RUNX1 | c.200T= (p.Leu67=) c.119T= (p.Leu40=) c.164T= (p.Leu55=) c.161T= (p.Leu54=) c.59-6281T= (n.59-6281T=) n.379T= c.47T= (p.Leu16=) n.426T= | |
21 | g.34886994A>C | CA410203923 | RUNX1 | c.200T>G (p.Leu67Arg) c.119T>G (p.Leu40Arg) c.164T>G (p.Leu55Arg) c.161T>G (p.Leu54Arg) c.59-6281T>G (n.59-6281T>G) n.379T>G c.47T>G (p.Leu16Arg) n.426T>G | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886994A>G | CA410203927 | RUNX1 | c.200T>C (p.Leu67Pro) c.119T>C (p.Leu40Pro) c.164T>C (p.Leu55Pro) c.161T>C (p.Leu54Pro) c.59-6281T>C (n.59-6281T>C) n.379T>C c.47T>C (p.Leu16Pro) n.426T>C | dbSNP |
21 | g.34886994A>T | CA410203925 | RUNX1 | c.200T>A (p.Leu67Gln) c.119T>A (p.Leu40Gln) c.164T>A (p.Leu55Gln) c.161T>A (p.Leu54Gln) c.59-6281T>A (n.59-6281T>A) n.379T>A c.47T>A (p.Leu16Gln) n.426T>A | |
21 | g.34886995G>A | CA512318925 | RUNX1 | c.199C>T (p.Leu67=) c.118C>T (p.Leu40=) c.163C>T (p.Leu55=) c.160C>T (p.Leu54=) c.59-6282C>T (n.59-6282C>T) n.378C>T c.46C>T (p.Leu16=) n.425C>T | dbSNP |
21 | g.34886995G>C | CA410203929 | RUNX1 | c.199C>G (p.Leu67Val) c.118C>G (p.Leu40Val) c.163C>G (p.Leu55Val) c.160C>G (p.Leu54Val) c.59-6282C>G (n.59-6282C>G) n.378C>G c.46C>G (p.Leu16Val) n.425C>G | |
21 | g.34886995G>T | CA410203931 | RUNX1 | c.199C>A (p.Leu67Met) c.118C>A (p.Leu40Met) c.163C>A (p.Leu55Met) c.160C>A (p.Leu54Met) c.59-6282C>A (n.59-6282C>A) n.378C>A c.46C>A (p.Leu16Met) n.425C>A | dbSNP |
21 | g.34886996G>A | CA512318927 | RUNX1 | c.198C>T (p.Ala66=) c.117C>T (p.Ala39=) c.162C>T (p.Ala54=) c.159C>T (p.Ala53=) c.59-6283C>T (n.59-6283C>T) n.377C>T c.45C>T (p.Ala15=) n.424C>T | dbSNP |
21 | g.34886996G>C | CA10014571 | RUNX1 | c.198C>G (p.Ala66=) c.117C>G (p.Ala39=) c.162C>G (p.Ala54=) c.159C>G (p.Ala53=) c.59-6283C>G (n.59-6283C>G) n.377C>G c.45C>G (p.Ala15=) n.424C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886996G= | CA2387297194 | RUNX1 | c.198C= (p.Ala66=) c.117C= (p.Ala39=) c.162C= (p.Ala54=) c.159C= (p.Ala53=) c.59-6283C= (n.59-6283C=) n.377C= c.45C= (p.Ala15=) n.424C= | |
21 | g.34886996G>T | CA512318926 | RUNX1 | c.198C>A (p.Ala66=) c.117C>A (p.Ala39=) c.162C>A (p.Ala54=) c.159C>A (p.Ala53=) c.59-6283C>A (n.59-6283C>A) n.377C>A c.45C>A (p.Ala15=) n.424C>A | |
21 | g.34887000_34887027dup | CA913189258 | RUNX1 | c.171_198dup (p.Leu67AlafsTer?) c.90_117dup (p.Leu40AlafsTer?) c.135_162dup (p.Leu55AlafsTer?) c.132_159dup (p.Leu54AlafsTer?) c.59-6310_59-6283dup (n.59-6310_59-6283dup) n.350_377dup c.18_45dup (p.Leu16AlafsTer?) n.397_424dup | |
21 | g.34887000_34887027del | CA2577483766 | RUNX1 | c.171_198del (p.Leu58TrpfsTer5) c.90_117del (p.Leu31TrpfsTer5) c.135_162del (p.Leu46TrpfsTer5) c.132_159del (p.Leu45TrpfsTer5) c.59-6310_59-6283del (n.59-6310_59-6283del) n.350_377del c.18_45del (p.Leu7TrpfsTer5) n.397_424del | |
21 | g.34886997G>A | CA410203934 | RUNX1 | c.197C>T (p.Ala66Val) c.116C>T (p.Ala39Val) c.161C>T (p.Ala54Val) c.158C>T (p.Ala53Val) c.59-6284C>T (n.59-6284C>T) n.376C>T c.44C>T (p.Ala15Val) n.423C>T | dbSNP |
21 | g.34886997G>C | CA410203936 | RUNX1 | c.197C>G (p.Ala66Gly) c.116C>G (p.Ala39Gly) c.161C>G (p.Ala54Gly) c.158C>G (p.Ala53Gly) c.59-6284C>G (n.59-6284C>G) n.376C>G c.44C>G (p.Ala15Gly) n.423C>G | dbSNP |
21 | g.34886997G>T | CA410203938 | RUNX1 | c.197C>A (p.Ala66Asp) c.116C>A (p.Ala39Asp) c.161C>A (p.Ala54Asp) c.158C>A (p.Ala53Asp) c.59-6284C>A (n.59-6284C>A) n.376C>A c.44C>A (p.Ala15Asp) n.423C>A | ClinVar gnomAD v4 |
21 | g.34886997_34887028delinsGCAGCGCCGGCGTCCGGGGCGCCCAGCGGCAA | CA2387297195 | RUNX1 | c.166_197delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu56=) c.85_116delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu29=) c.130_161delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu44=) c.127_158delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu43=) c.59-6315_59-6284delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (n.59-6315_59-6284delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC) n.345_376delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC c.13_44delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu5=) n.392_423delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC | |
21 | g.34886998C>A | CA410203940 | RUNX1 | c.196G>T (p.Ala66Ser) c.115G>T (p.Ala39Ser) c.160G>T (p.Ala54Ser) c.157G>T (p.Ala53Ser) c.59-6285G>T (n.59-6285G>T) n.375G>T c.43G>T (p.Ala15Ser) n.422G>T | dbSNP |
21 | g.34886998C>G | CA410203942 | RUNX1 | c.196G>C (p.Ala66Pro) c.115G>C (p.Ala39Pro) c.160G>C (p.Ala54Pro) c.157G>C (p.Ala53Pro) c.59-6285G>C (n.59-6285G>C) n.375G>C c.43G>C (p.Ala15Pro) n.422G>C | |
21 | g.34886998C>T | CA410203944 | RUNX1 | c.196G>A (p.Ala66Thr) c.115G>A (p.Ala39Thr) c.160G>A (p.Ala54Thr) c.157G>A (p.Ala53Thr) c.59-6285G>A (n.59-6285G>A) n.375G>A c.43G>A (p.Ala15Thr) n.422G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34886999_34887004del | CA2573157364 | RUNX1 | c.191_196del (p.Gly64_Ala65del) c.110_115del (p.Gly37_Ala38del) c.155_160del (p.Gly52_Ala53del) c.152_157del (p.Gly51_Ala52del) c.59-6290_59-6285del (n.59-6290_59-6285del) n.370_375del c.38_43del (p.Gly13_Ala14del) n.417_422del | ClinVar dbSNP |
21 | g.34886999_34887029del | CA913189256 | RUNX1 | c.166_196del (p.Leu56ProfsTer6) c.85_115del (p.Leu29ProfsTer6) c.130_160del (p.Leu44ProfsTer6) c.127_157del (p.Leu43ProfsTer6) c.59-6315_59-6285del (n.59-6315_59-6285del) n.345_375del c.13_43del (p.Leu5ProfsTer6) n.392_422del | ClinVar dbSNP |
21 | g.34886999A>C | CA512318930 | RUNX1 | c.195T>G (p.Ala65=) c.114T>G (p.Ala38=) c.159T>G (p.Ala53=) c.156T>G (p.Ala52=) c.59-6286T>G (n.59-6286T>G) n.374T>G c.42T>G (p.Ala14=) n.421T>G | dbSNP |
21 | g.34886999A>G | CA512318929 | RUNX1 | c.195T>C (p.Ala65=) c.114T>C (p.Ala38=) c.159T>C (p.Ala53=) c.156T>C (p.Ala52=) c.59-6286T>C (n.59-6286T>C) n.374T>C c.42T>C (p.Ala14=) n.421T>C | dbSNP |
21 | g.34886999A>T | CA512318928 | RUNX1 | c.195T>A (p.Ala65=) c.114T>A (p.Ala38=) c.159T>A (p.Ala53=) c.156T>A (p.Ala52=) c.59-6286T>A (n.59-6286T>A) n.374T>A c.42T>A (p.Ala14=) n.421T>A | dbSNP |
21 | g.34887000G>A | CA410203945 | RUNX1 | c.194C>T (p.Ala65Val) c.113C>T (p.Ala38Val) c.158C>T (p.Ala53Val) c.155C>T (p.Ala52Val) c.59-6287C>T (n.59-6287C>T) n.373C>T c.41C>T (p.Ala14Val) n.420C>T | ClinVar dbSNP gnomAD v4 |
21 | g.34887000G>C | CA410203946 | RUNX1 | c.194C>G (p.Ala65Gly) c.113C>G (p.Ala38Gly) c.158C>G (p.Ala53Gly) c.155C>G (p.Ala52Gly) c.59-6287C>G (n.59-6287C>G) n.373C>G c.41C>G (p.Ala14Gly) n.420C>G | |
21 | g.34887000G= | CA2387297196 | RUNX1 | c.194C= (p.Ala65=) c.113C= (p.Ala38=) c.158C= (p.Ala53=) c.155C= (p.Ala52=) c.59-6287C= (n.59-6287C=) n.373C= c.41C= (p.Ala14=) n.420C= | |
21 | g.34887000G>T | CA410203948 | RUNX1 | c.194C>A (p.Ala65Asp) c.113C>A (p.Ala38Asp) c.158C>A (p.Ala53Asp) c.155C>A (p.Ala52Asp) c.59-6287C>A (n.59-6287C>A) n.373C>A c.41C>A (p.Ala14Asp) n.420C>A | |
21 | g.34887001_34887005del | CA645607459 | RUNX1 | c.190_194del (p.Gly64CysfsTer?) c.109_113del (p.Gly37CysfsTer?) c.154_158del (p.Gly52CysfsTer?) c.151_155del (p.Gly51CysfsTer?) c.59-6291_59-6287del (n.59-6291_59-6287del) n.369_373del c.37_41del (p.Gly13CysfsTer?) n.416_420del | COSMIC |
21 | g.34887000_34887006del | CA645607458 | RUNX1 | c.188_194del (p.Ala63ValfsTer7) c.107_113del (p.Ala36ValfsTer7) c.152_158del (p.Ala51ValfsTer7) c.149_155del (p.Ala50ValfsTer7) c.59-6293_59-6287del (n.59-6293_59-6287del) n.367_373del c.35_41del (p.Ala12ValfsTer7) n.414_420del | COSMIC |
21 | g.34887001C>A | CA410203950 | RUNX1 | c.193G>T (p.Ala65Ser) c.112G>T (p.Ala38Ser) c.157G>T (p.Ala53Ser) c.154G>T (p.Ala52Ser) c.59-6288G>T (n.59-6288G>T) n.372G>T c.40G>T (p.Ala14Ser) n.419G>T | dbSNP |
21 | g.34887001C>G | CA410203954 | RUNX1 | c.193G>C (p.Ala65Pro) c.112G>C (p.Ala38Pro) c.157G>C (p.Ala53Pro) c.154G>C (p.Ala52Pro) c.59-6288G>C (n.59-6288G>C) n.372G>C c.40G>C (p.Ala14Pro) n.419G>C | ClinVar dbSNP gnomAD v4 |
21 | g.34887001C>T | CA410203952 | RUNX1 | c.193G>A (p.Ala65Thr) c.112G>A (p.Ala38Thr) c.157G>A (p.Ala53Thr) c.154G>A (p.Ala52Thr) c.59-6288G>A (n.59-6288G>A) n.372G>A c.40G>A (p.Ala14Thr) n.419G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34887005_34887032dup | CA891844470 | RUNX1 | c.166_193dup (p.Ala65ValfsTer?) c.85_112dup (p.Ala38ValfsTer?) c.130_157dup (p.Ala53ValfsTer?) c.127_154dup (p.Ala52ValfsTer?) c.59-6315_59-6288dup (n.59-6315_59-6288dup) n.345_372dup c.13_40dup (p.Ala14ValfsTer?) n.392_419dup | ClinVar dbSNP |
21 | g.34887002G>A | CA512318933 | RUNX1 | c.192C>T (p.Gly64=) c.111C>T (p.Gly37=) c.156C>T (p.Gly52=) c.153C>T (p.Gly51=) c.59-6289C>T (n.59-6289C>T) n.371C>T c.39C>T (p.Gly13=) n.418C>T | dbSNP gnomAD v4 |
21 | g.34887002G>C | CA512318931 | RUNX1 | c.192C>G (p.Gly64=) c.111C>G (p.Gly37=) c.156C>G (p.Gly52=) c.153C>G (p.Gly51=) c.59-6289C>G (n.59-6289C>G) n.371C>G c.39C>G (p.Gly13=) n.418C>G | dbSNP |
21 | g.34887002G>T | CA512318932 | RUNX1 | c.192C>A (p.Gly64=) c.111C>A (p.Gly37=) c.156C>A (p.Gly52=) c.153C>A (p.Gly51=) c.59-6289C>A (n.59-6289C>A) n.371C>A c.39C>A (p.Gly13=) n.418C>A | |
21 | g.34887003C>A | CA410203955 | RUNX1 | c.191G>T (p.Gly64Val) c.110G>T (p.Gly37Val) c.155G>T (p.Gly52Val) c.152G>T (p.Gly51Val) c.59-6290G>T (n.59-6290G>T) n.370G>T c.38G>T (p.Gly13Val) n.417G>T | dbSNP |
21 | g.34887003C= | CA2387297197 | RUNX1 | c.191G= (p.Gly64=) c.110G= (p.Gly37=) c.155G= (p.Gly52=) c.152G= (p.Gly51=) c.59-6290G= (n.59-6290G=) n.370G= c.38G= (p.Gly13=) n.417G= | |
21 | g.34887003C>G | CA410203957 | RUNX1 | c.191G>C (p.Gly64Ala) c.110G>C (p.Gly37Ala) c.155G>C (p.Gly52Ala) c.152G>C (p.Gly51Ala) c.59-6290G>C (n.59-6290G>C) n.370G>C c.38G>C (p.Gly13Ala) n.417G>C | gnomAD v4 |
21 | g.34887003C>T | CA410203958 | RUNX1 | c.191G>A (p.Gly64Asp) c.110G>A (p.Gly37Asp) c.155G>A (p.Gly52Asp) c.152G>A (p.Gly51Asp) c.59-6290G>A (n.59-6290G>A) n.370G>A c.38G>A (p.Gly13Asp) n.417G>A | dbSNP |
21 | g.34887003_34887004insTGTGCT | CA2540862196 | RUNX1 | c.190_191insAGCACA (p.Gly64delinsGluHisSer) c.109_110insAGCACA (p.Gly37delinsGluHisSer) c.154_155insAGCACA (p.Gly52delinsGluHisSer) c.151_152insAGCACA (p.Gly51delinsGluHisSer) c.59-6291_59-6290insAGCACA (n.59-6291_59-6290insAGCACA) n.369_370insAGCACA c.37_38insAGCACA (p.Gly13delinsGluHisSer) n.416_417insAGCACA | |
21 | g.34887004C>A | CA410203961 | RUNX1 | c.190G>T (p.Gly64Cys) c.109G>T (p.Gly37Cys) c.154G>T (p.Gly52Cys) c.151G>T (p.Gly51Cys) c.59-6291G>T (n.59-6291G>T) n.369G>T c.37G>T (p.Gly13Cys) n.416G>T | |
21 | g.34887004C= | CA2387297198 | RUNX1 | c.190G= (p.Gly64=) c.109G= (p.Gly37=) c.154G= (p.Gly52=) c.151G= (p.Gly51=) c.59-6291G= (n.59-6291G=) n.369G= c.37G= (p.Gly13=) n.416G= | |
21 | g.34887004C>G | CA410203963 | RUNX1 | c.190G>C (p.Gly64Arg) c.109G>C (p.Gly37Arg) c.154G>C (p.Gly52Arg) c.151G>C (p.Gly51Arg) c.59-6291G>C (n.59-6291G>C) n.369G>C c.37G>C (p.Gly13Arg) n.416G>C | |
21 | g.34887004C>T | CA320642849 | RUNX1 | c.190G>A (p.Gly64Ser) c.109G>A (p.Gly37Ser) c.154G>A (p.Gly52Ser) c.151G>A (p.Gly51Ser) c.59-6291G>A (n.59-6291G>A) n.369G>A c.37G>A (p.Gly13Ser) n.416G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34887005G>A | CA512318935 | RUNX1 | c.189C>T (p.Ala63=) c.108C>T (p.Ala36=) c.153C>T (p.Ala51=) c.150C>T (p.Ala50=) c.59-6292C>T (n.59-6292C>T) n.368C>T c.36C>T (p.Ala12=) n.415C>T | ClinVar dbSNP gnomAD v4 |
21 | g.34887005G>C | CA512318936 | RUNX1 | c.189C>G (p.Ala63=) c.108C>G (p.Ala36=) c.153C>G (p.Ala51=) c.150C>G (p.Ala50=) c.59-6292C>G (n.59-6292C>G) n.368C>G c.36C>G (p.Ala12=) n.415C>G | ClinVar dbSNP gnomAD v4 |
21 | g.34887005G= | CA2387297199 | RUNX1 | c.189C= (p.Ala63=) c.108C= (p.Ala36=) c.153C= (p.Ala51=) c.150C= (p.Ala50=) c.59-6292C= (n.59-6292C=) n.368C= c.36C= (p.Ala12=) n.415C= | |
21 | g.34887005G>T | CA512318934 | RUNX1 | c.189C>A (p.Ala63=) c.108C>A (p.Ala36=) c.153C>A (p.Ala51=) c.150C>A (p.Ala50=) c.59-6292C>A (n.59-6292C>A) n.368C>A c.36C>A (p.Ala12=) n.415C>A | ClinVar dbSNP |
21 | g.34887006dup | CA2695230132 | RUNX1 | c.189dup (p.Gly64ArgfsTer?) c.108dup (p.Gly37ArgfsTer?) c.153dup (p.Gly52ArgfsTer?) c.150dup (p.Gly51ArgfsTer?) c.59-6292dup (n.59-6292dup) n.368dup c.36dup (p.Gly13ArgfsTer?) n.415dup | |
21 | g.34887006G>A | CA10014572 | RUNX1 | c.188C>T (p.Ala63Val) c.107C>T (p.Ala36Val) c.152C>T (p.Ala51Val) c.149C>T (p.Ala50Val) c.59-6293C>T (n.59-6293C>T) n.367C>T c.35C>T (p.Ala12Val) n.414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
21 | g.34887006G>C | CA410203966 | RUNX1 | c.188C>G (p.Ala63Gly) c.107C>G (p.Ala36Gly) c.152C>G (p.Ala51Gly) c.149C>G (p.Ala50Gly) c.59-6293C>G (n.59-6293C>G) n.367C>G c.35C>G (p.Ala12Gly) n.414C>G | dbSNP |
21 | g.34887006G= | CA2387297200 | RUNX1 | c.188C= (p.Ala63=) c.107C= (p.Ala36=) c.152C= (p.Ala51=) c.149C= (p.Ala50=) c.59-6293C= (n.59-6293C=) n.367C= c.35C= (p.Ala12=) n.414C= | |
21 | g.34887006G>T | CA410203968 | RUNX1 | c.188C>A (p.Ala63Asp) c.107C>A (p.Ala36Asp) c.152C>A (p.Ala51Asp) c.149C>A (p.Ala50Asp) c.59-6293C>A (n.59-6293C>A) n.367C>A c.35C>A (p.Ala12Asp) n.414C>A | |
21 | g.34887007C>A | CA410203972 | RUNX1 | c.187G>T (p.Ala63Ser) c.106G>T (p.Ala36Ser) c.151G>T (p.Ala51Ser) c.148G>T (p.Ala50Ser) c.59-6294G>T (n.59-6294G>T) n.366G>T c.34G>T (p.Ala12Ser) n.413G>T | |
21 | g.34887007C= | CA2387297201 | RUNX1 | c.187G= (p.Ala63=) c.106G= (p.Ala36=) c.151G= (p.Ala51=) c.148G= (p.Ala50=) c.59-6294G= (n.59-6294G=) n.366G= c.34G= (p.Ala12=) n.413G= | |
21 | g.34887007C>G | CA410203973 | RUNX1 | c.187G>C (p.Ala63Pro) c.106G>C (p.Ala36Pro) c.151G>C (p.Ala51Pro) c.148G>C (p.Ala50Pro) c.59-6294G>C (n.59-6294G>C) n.366G>C c.34G>C (p.Ala12Pro) n.413G>C | |
21 | g.34887007C>T | CA410203970 | RUNX1 | c.187G>A (p.Ala63Thr) c.106G>A (p.Ala36Thr) c.151G>A (p.Ala51Thr) c.148G>A (p.Ala50Thr) c.59-6294G>A (n.59-6294G>A) n.366G>A c.34G>A (p.Ala12Thr) n.413G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887009_34887012dup | CA2695201454 | RUNX1 | c.184_187dup (p.Ala63GlyfsTer?) c.103_106dup (p.Ala36GlyfsTer?) c.148_151dup (p.Ala51GlyfsTer?) c.145_148dup (p.Ala50GlyfsTer?) c.59-6297_59-6294dup (n.59-6297_59-6294dup) n.363_366dup c.31_34dup (p.Ala12GlyfsTer?) n.410_413dup | ClinVar |
21 | g.34887008G>A | CA512318937 | RUNX1 | c.186C>T (p.Asp62=) c.105C>T (p.Asp35=) c.150C>T (p.Asp50=) c.147C>T (p.Asp49=) c.59-6295C>T (n.59-6295C>T) n.365C>T c.33C>T (p.Asp11=) n.412C>T | |
21 | g.34887008G>C | CA410203974 | RUNX1 | c.186C>G (p.Asp62Glu) c.105C>G (p.Asp35Glu) c.150C>G (p.Asp50Glu) c.147C>G (p.Asp49Glu) c.59-6295C>G (n.59-6295C>G) n.365C>G c.33C>G (p.Asp11Glu) n.412C>G | ClinVar dbSNP |
21 | g.34887008G= | CA2387297202 | RUNX1 | c.186C= (p.Asp62=) c.105C= (p.Asp35=) c.150C= (p.Asp50=) c.147C= (p.Asp49=) c.59-6295C= (n.59-6295C=) n.365C= c.33C= (p.Asp11=) n.412C= | |
21 | g.34887008G>T | CA320642855 | RUNX1 | c.186C>A (p.Asp62Glu) c.105C>A (p.Asp35Glu) c.150C>A (p.Asp50Glu) c.147C>A (p.Asp49Glu) c.59-6295C>A (n.59-6295C>A) n.365C>A c.33C>A (p.Asp11Glu) n.412C>A | ClinVar dbSNP gnomAD v4 |
21 | g.34887009del | CA2504623648 | RUNX1 | c.185del (p.Asp62AlafsTer10) c.104del (p.Asp35AlafsTer10) c.149del (p.Asp50AlafsTer10) c.146del (p.Asp49AlafsTer10) c.59-6296del (n.59-6296del) n.364del c.32del (p.Asp11AlafsTer10) n.411del | |
21 | g.34887009T>A | CA410203977 | RUNX1 | c.185A>T (p.Asp62Val) c.104A>T (p.Asp35Val) c.149A>T (p.Asp50Val) c.146A>T (p.Asp49Val) c.59-6296A>T (n.59-6296A>T) n.364A>T c.32A>T (p.Asp11Val) n.411A>T | dbSNP |
21 | g.34887009T>C | CA410203979 | RUNX1 | c.185A>G (p.Asp62Gly) c.104A>G (p.Asp35Gly) c.149A>G (p.Asp50Gly) c.146A>G (p.Asp49Gly) c.59-6296A>G (n.59-6296A>G) n.364A>G c.32A>G (p.Asp11Gly) n.411A>G | ClinVar dbSNP |
21 | g.34887009T>G | CA410203980 | RUNX1 | c.185A>C (p.Asp62Ala) c.104A>C (p.Asp35Ala) c.149A>C (p.Asp50Ala) c.146A>C (p.Asp49Ala) c.59-6296A>C (n.59-6296A>C) n.364A>C c.32A>C (p.Asp11Ala) n.411A>C | dbSNP |
21 | g.34887009_34887010insGCGC | CA645607460 | RUNX1 | c.184_185insGCGC (p.Asp62GlyfsTer?) c.103_104insGCGC (p.Asp35GlyfsTer?) c.148_149insGCGC (p.Asp50GlyfsTer?) c.145_146insGCGC (p.Asp49GlyfsTer?) c.59-6297_59-6296insGCGC (n.59-6297_59-6296insGCGC) n.363_364insGCGC c.31_32insGCGC (p.Asp11GlyfsTer?) n.410_411insGCGC | COSMIC |
21 | g.34887010C>A | CA410203981 | RUNX1 | c.184G>T (p.Asp62Tyr) c.103G>T (p.Asp35Tyr) c.148G>T (p.Asp50Tyr) c.145G>T (p.Asp49Tyr) c.59-6297G>T (n.59-6297G>T) n.363G>T c.31G>T (p.Asp11Tyr) n.410G>T | dbSNP |
21 | g.34887010C>G | CA410203983 | RUNX1 | c.184G>C (p.Asp62His) c.103G>C (p.Asp35His) c.148G>C (p.Asp50His) c.145G>C (p.Asp49His) c.59-6297G>C (n.59-6297G>C) n.363G>C c.31G>C (p.Asp11His) n.410G>C | dbSNP |
21 | g.34887010C>T | CA410203985 | RUNX1 | c.184G>A (p.Asp62Asn) c.103G>A (p.Asp35Asn) c.148G>A (p.Asp50Asn) c.145G>A (p.Asp49Asn) c.59-6297G>A (n.59-6297G>A) n.363G>A c.31G>A (p.Asp11Asn) n.410G>A | dbSNP |
21 | g.34887011C>A | CA512318938 | RUNX1 | c.183G>T (p.Pro61=) c.102G>T (p.Pro34=) c.147G>T (p.Pro49=) c.144G>T (p.Pro48=) c.59-6298G>T (n.59-6298G>T) n.362G>T c.30G>T (p.Pro10=) n.409G>T | |
21 | g.34887011C= | CA2387297203 | RUNX1 | c.183G= (p.Pro61=) c.102G= (p.Pro34=) c.147G= (p.Pro49=) c.144G= (p.Pro48=) c.59-6298G= (n.59-6298G=) n.362G= c.30G= (p.Pro10=) n.409G= | |
21 | g.34887011C>G | CA512318939 | RUNX1 | c.183G>C (p.Pro61=) c.102G>C (p.Pro34=) c.147G>C (p.Pro49=) c.144G>C (p.Pro48=) c.59-6298G>C (n.59-6298G>C) n.362G>C c.30G>C (p.Pro10=) n.409G>C | dbSNP |
21 | g.34887011C>T | CA208646 | RUNX1 | c.183G>A (p.Pro61=) c.102G>A (p.Pro34=) c.147G>A (p.Pro49=) c.144G>A (p.Pro48=) c.59-6298G>A (n.59-6298G>A) n.362G>A c.30G>A (p.Pro10=) n.409G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887012G>A | CA10014573 | RUNX1 | c.182C>T (p.Pro61Leu) c.101C>T (p.Pro34Leu) c.146C>T (p.Pro49Leu) c.143C>T (p.Pro48Leu) c.59-6299C>T (n.59-6299C>T) n.361C>T c.29C>T (p.Pro10Leu) n.408C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887012G>C | CA410203987 | RUNX1 | c.182C>G (p.Pro61Arg) c.101C>G (p.Pro34Arg) c.146C>G (p.Pro49Arg) c.143C>G (p.Pro48Arg) c.59-6299C>G (n.59-6299C>G) n.361C>G c.29C>G (p.Pro10Arg) n.408C>G | ClinVar dbSNP gnomAD v4 |
21 | g.34887012G= | CA2387297204 | RUNX1 | c.182C= (p.Pro61=) c.101C= (p.Pro34=) c.146C= (p.Pro49=) c.143C= (p.Pro48=) c.59-6299C= (n.59-6299C=) n.361C= c.29C= (p.Pro10=) n.408C= | |
21 | g.34887012G>T | CA410203989 | RUNX1 | c.182C>A (p.Pro61Gln) c.101C>A (p.Pro34Gln) c.146C>A (p.Pro49Gln) c.143C>A (p.Pro48Gln) c.59-6299C>A (n.59-6299C>A) n.361C>A c.29C>A (p.Pro10Gln) n.408C>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34887015dup | CA2654380327 | RUNX1 | c.182dup (p.Asp62GlyfsTer?) c.101dup (p.Asp35GlyfsTer?) c.146dup (p.Asp50GlyfsTer?) c.143dup (p.Asp49GlyfsTer?) c.59-6299dup (n.59-6299dup) n.361dup c.29dup (p.Asp11GlyfsTer?) n.408dup | gnomAD v4 |
21 | g.34887015del | CA2654380328 | RUNX1 | c.182del (p.Pro61ArgfsTer11) c.101del (p.Pro34ArgfsTer11) c.146del (p.Pro49ArgfsTer11) c.143del (p.Pro48ArgfsTer11) c.59-6299del (n.59-6299del) n.361del c.29del (p.Pro10ArgfsTer11) n.408del | gnomAD v4 |
21 | g.34887013G>A | CA10014574 | RUNX1 | c.181C>T (p.Pro61Ser) c.100C>T (p.Pro34Ser) c.145C>T (p.Pro49Ser) c.142C>T (p.Pro48Ser) c.59-6300C>T (n.59-6300C>T) n.360C>T c.28C>T (p.Pro10Ser) n.407C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34887013G>C | CA410203991 | RUNX1 | c.181C>G (p.Pro61Ala) c.100C>G (p.Pro34Ala) c.145C>G (p.Pro49Ala) c.142C>G (p.Pro48Ala) c.59-6300C>G (n.59-6300C>G) n.360C>G c.28C>G (p.Pro10Ala) n.407C>G | dbSNP |
21 | g.34887013G= | CA2387297205 | RUNX1 | c.181C= (p.Pro61=) c.100C= (p.Pro34=) c.145C= (p.Pro49=) c.142C= (p.Pro48=) c.59-6300C= (n.59-6300C=) n.360C= c.28C= (p.Pro10=) n.407C= | |
21 | g.34887013G>T | CA410203993 | RUNX1 | c.181C>A (p.Pro61Thr) c.100C>A (p.Pro34Thr) c.145C>A (p.Pro49Thr) c.142C>A (p.Pro48Thr) c.59-6300C>A (n.59-6300C>A) n.360C>A c.28C>A (p.Pro10Thr) n.407C>A | ClinVar dbSNP |
21 | g.34887014G>A | CA10014575 | RUNX1 | c.180C>T (p.Ala60=) c.99C>T (p.Ala33=) c.144C>T (p.Ala48=) c.141C>T (p.Ala47=) c.59-6301C>T (n.59-6301C>T) n.359C>T c.27C>T (p.Ala9=) n.406C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887014G>C | CA512318941 | RUNX1 | c.180C>G (p.Ala60=) c.99C>G (p.Ala33=) c.144C>G (p.Ala48=) c.141C>G (p.Ala47=) c.59-6301C>G (n.59-6301C>G) n.359C>G c.27C>G (p.Ala9=) n.406C>G | |
21 | g.34887014G= | CA2387297206 | RUNX1 | c.180C= (p.Ala60=) c.99C= (p.Ala33=) c.144C= (p.Ala48=) c.141C= (p.Ala47=) c.59-6301C= (n.59-6301C=) n.359C= c.27C= (p.Ala9=) n.406C= | |
21 | g.34887014G>T | CA512318940 | RUNX1 | c.180C>A (p.Ala60=) c.99C>A (p.Ala33=) c.144C>A (p.Ala48=) c.141C>A (p.Ala47=) c.59-6301C>A (n.59-6301C>A) n.359C>A c.27C>A (p.Ala9=) n.406C>A | ClinVar |
21 | g.34887015G>A | CA10014576 | RUNX1 | c.179C>T (p.Ala60Val) c.98C>T (p.Ala33Val) c.143C>T (p.Ala48Val) c.140C>T (p.Ala47Val) c.59-6302C>T (n.59-6302C>T) n.358C>T c.26C>T (p.Ala9Val) n.405C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.34887015G>C | CA410203997 | RUNX1 | c.179C>G (p.Ala60Gly) c.98C>G (p.Ala33Gly) c.143C>G (p.Ala48Gly) c.140C>G (p.Ala47Gly) c.59-6302C>G (n.59-6302C>G) n.358C>G c.26C>G (p.Ala9Gly) n.405C>G | |
21 | g.34887015G= | CA2387297207 | RUNX1 | c.179C= (p.Ala60=) c.98C= (p.Ala33=) c.143C= (p.Ala48=) c.140C= (p.Ala47=) c.59-6302C= (n.59-6302C=) n.358C= c.26C= (p.Ala9=) n.405C= | |
21 | g.34887015G>T | CA410203999 | RUNX1 | c.179C>A (p.Ala60Asp) c.98C>A (p.Ala33Asp) c.143C>A (p.Ala48Asp) c.140C>A (p.Ala47Asp) c.59-6302C>A (n.59-6302C>A) n.358C>A c.26C>A (p.Ala9Asp) n.405C>A | |
21 | g.34887015_34887019del | CA2501407093 | RUNX1 | c.175_179del (p.Gly59ProfsTer?) c.94_98del (p.Gly32ProfsTer?) c.139_143del (p.Gly47ProfsTer?) c.136_140del (p.Gly46ProfsTer?) c.59-6306_59-6302del (n.59-6306_59-6302del) n.354_358del c.22_26del (p.Gly8ProfsTer?) n.401_405del | |
21 | g.34887016C>A | CA410204001 | RUNX1 | c.178G>T (p.Ala60Ser) c.97G>T (p.Ala33Ser) c.142G>T (p.Ala48Ser) c.139G>T (p.Ala47Ser) c.59-6303G>T (n.59-6303G>T) n.357G>T c.25G>T (p.Ala9Ser) n.404G>T | dbSNP |
21 | g.34887016C= | CA2387297208 | RUNX1 | c.178G= (p.Ala60=) c.97G= (p.Ala33=) c.142G= (p.Ala48=) c.139G= (p.Ala47=) c.59-6303G= (n.59-6303G=) n.357G= c.25G= (p.Ala9=) n.404G= | |
21 | g.34887016C>G | CA410204003 | RUNX1 | c.178G>C (p.Ala60Pro) c.97G>C (p.Ala33Pro) c.142G>C (p.Ala48Pro) c.139G>C (p.Ala47Pro) c.59-6303G>C (n.59-6303G>C) n.357G>C c.25G>C (p.Ala9Pro) n.404G>C | ClinVar dbSNP |
21 | g.34887016C>T | CA410204005 | RUNX1 | c.178G>A (p.Ala60Thr) c.97G>A (p.Ala33Thr) c.142G>A (p.Ala48Thr) c.139G>A (p.Ala47Thr) c.59-6303G>A (n.59-6303G>A) n.357G>A c.25G>A (p.Ala9Thr) n.404G>A | dbSNP gnomAD v3 gnomAD v4 |
21 | g.34887016_34887017insCC | CA645607461 | RUNX1 | c.178_179insGG (p.Ala60GlyfsTer13) c.97_98insGG (p.Ala33GlyfsTer13) c.142_143insGG (p.Ala48GlyfsTer13) c.139_140insGG (p.Ala47GlyfsTer13) c.59-6303_59-6302insGG (n.59-6303_59-6302insGG) n.357_358insGG c.25_26insGG (p.Ala9GlyfsTer13) n.404_405insGG | COSMIC |
21 | g.34887024_34887025insAGGAGGGAAGACGCCCAGCG | CA2573106212 | RUNX1 | c.178_179insTCTTCCCTCCTCGCTGGGCG (p.Ala60ValfsTer19) c.97_98insTCTTCCCTCCTCGCTGGGCG (p.Ala33ValfsTer19) c.142_143insTCTTCCCTCCTCGCTGGGCG (p.Ala48ValfsTer19) c.139_140insTCTTCCCTCCTCGCTGGGCG (p.Ala47ValfsTer19) c.59-6303_59-6302insTCTTCCCTCCTCGCTGGGCG (n.59-6303_59-6302insTCTTCCCTCCTCGCTGGGCG) n.357_358insTCTTCCCTCCTCGCTGGGCG c.25_26insTCTTCCCTCCTCGCTGGGCG (p.Ala9ValfsTer19) n.404_405insTCTTCCCTCCTCGCTGGGCG | |
21 | g.34887017G>A | CA320642905 | RUNX1 | c.177C>T (p.Gly59=) c.96C>T (p.Gly32=) c.141C>T (p.Gly47=) c.138C>T (p.Gly46=) c.59-6304C>T (n.59-6304C>T) n.356C>T c.24C>T (p.Gly8=) n.403C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887017G>C | CA512318944 | RUNX1 | c.177C>G (p.Gly59=) c.96C>G (p.Gly32=) c.141C>G (p.Gly47=) c.138C>G (p.Gly46=) c.59-6304C>G (n.59-6304C>G) n.356C>G c.24C>G (p.Gly8=) n.403C>G | |
21 | g.34887017G= | CA2387297209 | RUNX1 | c.177C= (p.Gly59=) c.96C= (p.Gly32=) c.141C= (p.Gly47=) c.138C= (p.Gly46=) c.59-6304C= (n.59-6304C=) n.356C= c.24C= (p.Gly8=) n.403C= | |
21 | g.34887017G>T | CA512318945 | RUNX1 | c.177C>A (p.Gly59=) c.96C>A (p.Gly32=) c.141C>A (p.Gly47=) c.138C>A (p.Gly46=) c.59-6304C>A (n.59-6304C>A) n.356C>A c.24C>A (p.Gly8=) n.403C>A | gnomAD v4 |
21 | g.34887018C>A | CA410204007 | RUNX1 | c.176G>T (p.Gly59Val) c.95G>T (p.Gly32Val) c.140G>T (p.Gly47Val) c.137G>T (p.Gly46Val) c.59-6305G>T (n.59-6305G>T) n.355G>T c.23G>T (p.Gly8Val) n.402G>T | |
21 | g.34887018C= | CA2387297210 | RUNX1 | c.176G= (p.Gly59=) c.95G= (p.Gly32=) c.140G= (p.Gly47=) c.137G= (p.Gly46=) c.59-6305G= (n.59-6305G=) n.355G= c.23G= (p.Gly8=) n.402G= | |
21 | g.34887018C>G | CA410204008 | RUNX1 | c.176G>C (p.Gly59Ala) c.95G>C (p.Gly32Ala) c.140G>C (p.Gly47Ala) c.137G>C (p.Gly46Ala) c.59-6305G>C (n.59-6305G>C) n.355G>C c.23G>C (p.Gly8Ala) n.402G>C | |
21 | g.34887018C>T | CA410204010 | RUNX1 | c.176G>A (p.Gly59Asp) c.95G>A (p.Gly32Asp) c.140G>A (p.Gly47Asp) c.137G>A (p.Gly46Asp) c.59-6305G>A (n.59-6305G>A) n.355G>A c.23G>A (p.Gly8Asp) n.402G>A | dbSNP gnomAD v3 gnomAD v4 |
21 | g.34887019C>A | CA410204012 | RUNX1 | c.175G>T (p.Gly59Cys) c.94G>T (p.Gly32Cys) c.139G>T (p.Gly47Cys) c.136G>T (p.Gly46Cys) c.59-6306G>T (n.59-6306G>T) n.354G>T c.22G>T (p.Gly8Cys) n.401G>T | dbSNP |
21 | g.34887019C= | CA2387297211 | RUNX1 | c.175G= (p.Gly59=) c.94G= (p.Gly32=) c.139G= (p.Gly47=) c.136G= (p.Gly46=) c.59-6306G= (n.59-6306G=) n.354G= c.22G= (p.Gly8=) n.401G= | |
21 | g.34887019C>G | CA410204014 | RUNX1 | c.175G>C (p.Gly59Arg) c.94G>C (p.Gly32Arg) c.139G>C (p.Gly47Arg) c.136G>C (p.Gly46Arg) c.59-6306G>C (n.59-6306G>C) n.354G>C c.22G>C (p.Gly8Arg) n.401G>C | |
21 | g.34887019C>T | CA410204015 | RUNX1 | c.175G>A (p.Gly59Ser) c.94G>A (p.Gly32Ser) c.139G>A (p.Gly47Ser) c.136G>A (p.Gly46Ser) c.59-6306G>A (n.59-6306G>A) n.354G>A c.22G>A (p.Gly8Ser) n.401G>A | |
21 | g.34887020C>A | CA512318946 | RUNX1 | c.174G>T (p.Leu58=) c.93G>T (p.Leu31=) c.138G>T (p.Leu46=) c.135G>T (p.Leu45=) c.59-6307G>T (n.59-6307G>T) n.353G>T c.21G>T (p.Leu7=) n.400G>T | |
21 | g.34887020C>G | CA512318947 | RUNX1 | c.174G>C (p.Leu58=) c.93G>C (p.Leu31=) c.138G>C (p.Leu46=) c.135G>C (p.Leu45=) c.59-6307G>C (n.59-6307G>C) n.353G>C c.21G>C (p.Leu7=) n.400G>C | |
21 | g.34887020C>T | CA512318948 | RUNX1 | c.174G>A (p.Leu58=) c.93G>A (p.Leu31=) c.138G>A (p.Leu46=) c.135G>A (p.Leu45=) c.59-6307G>A (n.59-6307G>A) n.353G>A c.21G>A (p.Leu7=) n.400G>A | |
21 | g.34887020_34887074del | CA645607462 | RUNX1 | c.120_174del (p.Phe40LeufsTer14) c.39_93del (p.Phe13LeufsTer14) c.84_138del (p.Phe28LeufsTer14) c.81_135del (p.Phe27LeufsTer14) c.59-6361_59-6307del (n.59-6361_59-6307del) n.299_353del c.-34_21del n.346_400del | COSMIC |
21 | g.34887021A= | CA2387297212 | RUNX1 | c.173T= (p.Leu58=) c.92T= (p.Leu31=) c.137T= (p.Leu46=) c.134T= (p.Leu45=) c.59-6308T= (n.59-6308T=) n.352T= c.20T= (p.Leu7=) n.399T= | |
21 | g.34887021A>C | CA410204020 | RUNX1 | c.173T>G (p.Leu58Arg) c.92T>G (p.Leu31Arg) c.137T>G (p.Leu46Arg) c.134T>G (p.Leu45Arg) c.59-6308T>G (n.59-6308T>G) n.352T>G c.20T>G (p.Leu7Arg) n.399T>G | |
21 | g.34887021A>G | CA410204021 | RUNX1 | c.173T>C (p.Leu58Pro) c.92T>C (p.Leu31Pro) c.137T>C (p.Leu46Pro) c.134T>C (p.Leu45Pro) c.59-6308T>C (n.59-6308T>C) n.352T>C c.20T>C (p.Leu7Pro) n.399T>C | dbSNP |
21 | g.34887021A>T | CA410204018 | RUNX1 | c.173T>A (p.Leu58Gln) c.92T>A (p.Leu31Gln) c.137T>A (p.Leu46Gln) c.134T>A (p.Leu45Gln) c.59-6308T>A (n.59-6308T>A) n.352T>A c.20T>A (p.Leu7Gln) n.399T>A | dbSNP |
21 | g.34887027_34887081del | CA645607463 | RUNX1 | c.119_173del (p.Phe40TrpfsTer14) c.38_92del (p.Phe13TrpfsTer14) c.83_137del (p.Phe28TrpfsTer14) c.80_134del (p.Phe27TrpfsTer14) c.59-6362_59-6308del (n.59-6362_59-6308del) n.298_352del c.-35_20del n.345_399del | COSMIC |
21 | g.34887022G>A | CA512318949 | RUNX1 | c.172C>T (p.Leu58=) c.91C>T (p.Leu31=) c.136C>T (p.Leu46=) c.133C>T (p.Leu45=) c.59-6309C>T (n.59-6309C>T) n.351C>T c.19C>T (p.Leu7=) n.398C>T | ClinVar dbSNP gnomAD v4 |
21 | g.34887022G>C | CA410204025 | RUNX1 | c.172C>G (p.Leu58Val) c.91C>G (p.Leu31Val) c.136C>G (p.Leu46Val) c.133C>G (p.Leu45Val) c.59-6309C>G (n.59-6309C>G) n.351C>G c.19C>G (p.Leu7Val) n.398C>G | |
21 | g.34887022G>T | CA410204024 | RUNX1 | c.172C>A (p.Leu58Met) c.91C>A (p.Leu31Met) c.136C>A (p.Leu46Met) c.133C>A (p.Leu45Met) c.59-6309C>A (n.59-6309C>A) n.351C>A c.19C>A (p.Leu7Met) n.398C>A | |
21 | g.34887023C>A | CA512318951 | RUNX1 | c.171G>T (p.Pro57=) c.90G>T (p.Pro30=) c.135G>T (p.Pro45=) c.132G>T (p.Pro44=) c.59-6310G>T (n.59-6310G>T) n.350G>T c.18G>T (p.Pro6=) n.397G>T | |
21 | g.34887023C>G | CA512318952 | RUNX1 | c.171G>C (p.Pro57=) c.90G>C (p.Pro30=) c.135G>C (p.Pro45=) c.132G>C (p.Pro44=) c.59-6310G>C (n.59-6310G>C) n.350G>C c.18G>C (p.Pro6=) n.397G>C | |
21 | g.34887023C>T | CA512318950 | RUNX1 | c.171G>A (p.Pro57=) c.90G>A (p.Pro30=) c.135G>A (p.Pro45=) c.132G>A (p.Pro44=) c.59-6310G>A (n.59-6310G>A) n.350G>A c.18G>A (p.Pro6=) n.397G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34887024G>A | CA410204032 | RUNX1 | c.170C>T (p.Pro57Leu) c.89C>T (p.Pro30Leu) c.134C>T (p.Pro45Leu) c.131C>T (p.Pro44Leu) c.59-6311C>T (n.59-6311C>T) n.349C>T c.17C>T (p.Pro6Leu) n.396C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34887024G>C | CA410204028 | RUNX1 | c.170C>G (p.Pro57Arg) c.89C>G (p.Pro30Arg) c.134C>G (p.Pro45Arg) c.131C>G (p.Pro44Arg) c.59-6311C>G (n.59-6311C>G) n.349C>G c.17C>G (p.Pro6Arg) n.396C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34887024G= | CA2387297213 | RUNX1 | c.170C= (p.Pro57=) c.89C= (p.Pro30=) c.134C= (p.Pro45=) c.131C= (p.Pro44=) c.59-6311C= (n.59-6311C=) n.349C= c.17C= (p.Pro6=) n.396C= | |
21 | g.34887024G>T | CA410204030 | RUNX1 | c.170C>A (p.Pro57Gln) c.89C>A (p.Pro30Gln) c.134C>A (p.Pro45Gln) c.131C>A (p.Pro44Gln) c.59-6311C>A (n.59-6311C>A) n.349C>A c.17C>A (p.Pro6Gln) n.396C>A | |
21 | g.34887025G>A | CA410204034 | RUNX1 | c.169C>T (p.Pro57Ser) c.88C>T (p.Pro30Ser) c.133C>T (p.Pro45Ser) c.130C>T (p.Pro44Ser) c.59-6312C>T (n.59-6312C>T) n.348C>T c.16C>T (p.Pro6Ser) n.395C>T | dbSNP gnomAD v4 |
21 | g.34887025G>C | CA410204036 | RUNX1 | c.169C>G (p.Pro57Ala) c.88C>G (p.Pro30Ala) c.133C>G (p.Pro45Ala) c.130C>G (p.Pro44Ala) c.59-6312C>G (n.59-6312C>G) n.348C>G c.16C>G (p.Pro6Ala) n.395C>G | |
21 | g.34887025G= | CA2387297215 | RUNX1 | c.169C= (p.Pro57=) c.88C= (p.Pro30=) c.133C= (p.Pro45=) c.130C= (p.Pro44=) c.59-6312C= (n.59-6312C=) n.348C= c.16C= (p.Pro6=) n.395C= | |
21 | g.34887025G>T | CA410204037 | RUNX1 | c.169C>A (p.Pro57Thr) c.88C>A (p.Pro30Thr) c.133C>A (p.Pro45Thr) c.130C>A (p.Pro44Thr) c.59-6312C>A (n.59-6312C>A) n.348C>A c.16C>A (p.Pro6Thr) n.395C>A | |
21 | g.34887027_34887031dup | CA2387297214 | RUNX1 | c.165_169dup (p.Pro57ArgfsTer17) c.84_88dup (p.Pro30ArgfsTer17) c.129_133dup (p.Pro45ArgfsTer17) c.126_130dup (p.Pro44ArgfsTer17) c.59-6316_59-6312dup (n.59-6316_59-6312dup) n.344_348dup c.12_16dup (p.Pro6ArgfsTer17) n.391_395dup | dbSNP |
21 | g.34887026C>A | CA410204039 | RUNX1 | c.168G>T (p.Leu56Phe) c.87G>T (p.Leu29Phe) c.132G>T (p.Leu44Phe) c.129G>T (p.Leu43Phe) c.59-6313G>T (n.59-6313G>T) n.347G>T c.15G>T (p.Leu5Phe) n.394G>T | dbSNP |
21 | g.34887026C= | CA2387297216 | RUNX1 | c.168G= (p.Leu56=) c.87G= (p.Leu29=) c.132G= (p.Leu44=) c.129G= (p.Leu43=) c.59-6313G= (n.59-6313G=) n.347G= c.15G= (p.Leu5=) n.394G= | |
21 | g.34887026C>G | CA410204041 | RUNX1 | c.168G>C (p.Leu56Phe) c.87G>C (p.Leu29Phe) c.132G>C (p.Leu44Phe) c.129G>C (p.Leu43Phe) c.59-6313G>C (n.59-6313G>C) n.347G>C c.15G>C (p.Leu5Phe) n.394G>C | |
21 | g.34887026C>T | CA10014577 | RUNX1 | c.168G>A (p.Leu56=) c.87G>A (p.Leu29=) c.132G>A (p.Leu44=) c.129G>A (p.Leu43=) c.59-6313G>A (n.59-6313G>A) n.347G>A c.15G>A (p.Leu5=) n.394G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34887027_34887029del | CA1139771056 | RUNX1 | c.166_168del (p.Leu56del) c.85_87del (p.Leu29del) c.130_132del (p.Leu44del) c.127_129del (p.Leu43del) c.59-6315_59-6313del (n.59-6315_59-6313del) n.345_347del c.13_15del (p.Leu5del) n.392_394del | |
21 | g.34887027A= | CA2387297217 | RUNX1 | c.167T= (p.Leu56=) c.86T= (p.Leu29=) c.131T= (p.Leu44=) c.128T= (p.Leu43=) c.59-6314T= (n.59-6314T=) n.346T= c.14T= (p.Leu5=) n.393T= | |
21 | g.34887027A>C | CA410204042 | RUNX1 | c.167T>G (p.Leu56Trp) c.86T>G (p.Leu29Trp) c.131T>G (p.Leu44Trp) c.128T>G (p.Leu43Trp) c.59-6314T>G (n.59-6314T>G) n.346T>G c.14T>G (p.Leu5Trp) n.393T>G | dbSNP |
21 | g.34887027A>G | CA10014578 | RUNX1 | c.167T>C (p.Leu56Ser) c.86T>C (p.Leu29Ser) c.131T>C (p.Leu44Ser) c.128T>C (p.Leu43Ser) c.59-6314T>C (n.59-6314T>C) n.346T>C c.14T>C (p.Leu5Ser) n.393T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887027A>T | CA410204045 | RUNX1 | c.167T>A (p.Leu56Ter) c.86T>A (p.Leu29Ter) c.131T>A (p.Leu44Ter) c.128T>A (p.Leu43Ter) c.59-6314T>A (n.59-6314T>A) n.346T>A c.14T>A (p.Leu5Ter) n.393T>A | dbSNP |
21 | g.34887028_34887076del | CA1139655378 | RUNX1 | c.119_167del (p.Phe40CysfsTer16) c.38_86del (p.Phe13CysfsTer16) c.83_131del (p.Phe28CysfsTer16) c.80_128del (p.Phe27CysfsTer16) c.59-6362_59-6314del (n.59-6362_59-6314del) n.298_346del c.-35_14del n.345_393del | |
21 | g.34887027_34887028insTCAG | CA645607465 | RUNX1 | c.166_167insCTGA (p.Leu56SerfsTer?) c.85_86insCTGA (p.Leu29SerfsTer?) c.130_131insCTGA (p.Leu44SerfsTer?) c.127_128insCTGA (p.Leu43SerfsTer?) c.59-6315_59-6314insCTGA (n.59-6315_59-6314insCTGA) n.345_346insCTGA c.13_14insCTGA (p.Leu5SerfsTer?) n.392_393insCTGA | COSMIC |
21 | g.34887028A= | CA2387297218 | RUNX1 | c.166T= (p.Leu56=) c.85T= (p.Leu29=) c.130T= (p.Leu44=) c.127T= (p.Leu43=) c.59-6315T= (n.59-6315T=) n.345T= c.13T= (p.Leu5=) n.392T= | |
21 | g.34887028A>C | CA410204048 | RUNX1 | c.166T>G (p.Leu56Val) c.85T>G (p.Leu29Val) c.130T>G (p.Leu44Val) c.127T>G (p.Leu43Val) c.59-6315T>G (n.59-6315T>G) n.345T>G c.13T>G (p.Leu5Val) n.392T>G | |
21 | g.34887028A>G | CA512318953 | RUNX1 | c.166T>C (p.Leu56=) c.85T>C (p.Leu29=) c.130T>C (p.Leu44=) c.127T>C (p.Leu43=) c.59-6315T>C (n.59-6315T>C) n.345T>C c.13T>C (p.Leu5=) n.392T>C | ClinVar |
21 | g.34887028A>T | CA410204047 | RUNX1 | c.166T>A (p.Leu56Met) c.85T>A (p.Leu29Met) c.130T>A (p.Leu44Met) c.127T>A (p.Leu43Met) c.59-6315T>A (n.59-6315T>A) n.345T>A c.13T>A (p.Leu5Met) n.392T>A | |
21 | g.34887028_34887082del | CA645607464 | RUNX1 | c.112_166del (p.Arg38CysfsTer16) c.31_85del (p.Arg11CysfsTer16) c.76_130del (p.Arg26CysfsTer16) c.73_127del (p.Arg25CysfsTer16) c.59-6369_59-6315del (n.59-6369_59-6315del) n.291_345del c.-42_13del n.338_392del | COSMIC |
21 | g.34887029C>A | CA10014579 | RUNX1 | c.165G>T (p.Ala55=) c.84G>T (p.Ala28=) c.129G>T (p.Ala43=) c.126G>T (p.Ala42=) c.59-6316G>T (n.59-6316G>T) n.344G>T c.12G>T (p.Ala4=) n.391G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34887029C= | CA2387297220 | RUNX1 | c.165G= (p.Ala55=) c.84G= (p.Ala28=) c.129G= (p.Ala43=) c.126G= (p.Ala42=) c.59-6316G= (n.59-6316G=) n.344G= c.12G= (p.Ala4=) n.391G= | |
21 | g.34887029C>G | CA512318954 | RUNX1 | c.165G>C (p.Ala55=) c.84G>C (p.Ala28=) c.129G>C (p.Ala43=) c.126G>C (p.Ala42=) c.59-6316G>C (n.59-6316G>C) n.344G>C c.12G>C (p.Ala4=) n.391G>C | |
21 | g.34887029C>T | CA512318955 | RUNX1 | c.165G>A (p.Ala55=) c.84G>A (p.Ala28=) c.129G>A (p.Ala43=) c.126G>A (p.Ala42=) c.59-6316G>A (n.59-6316G>A) n.344G>A c.12G>A (p.Ala4=) n.391G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34887029dup | CA2387297219 | RUNX1 | c.165dup (p.Leu56ValfsTer?) c.84dup (p.Leu29ValfsTer?) c.129dup (p.Leu44ValfsTer?) c.126dup (p.Leu43ValfsTer?) c.59-6316dup (n.59-6316dup) n.344dup c.12dup (p.Leu5ValfsTer?) n.391dup | ClinVar dbSNP |
21 | g.34887030_34887031del | CA2695202299 | RUNX1 | c.164_165del (p.Ala55ValfsTer?) c.83_84del (p.Ala28ValfsTer?) c.128_129del (p.Ala43ValfsTer?) c.125_126del (p.Ala42ValfsTer?) c.59-6317_59-6316del (n.59-6317_59-6316del) n.343_344del c.11_12del (p.Ala4ValfsTer?) n.390_391del | |
21 | g.34887030G>A | CA410204050 | RUNX1 | c.164C>T (p.Ala55Val) c.83C>T (p.Ala28Val) c.128C>T (p.Ala43Val) c.125C>T (p.Ala42Val) c.59-6317C>T (n.59-6317C>T) n.343C>T c.11C>T (p.Ala4Val) n.390C>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34887030G>C | CA410204052 | RUNX1 | c.164C>G (p.Ala55Gly) c.83C>G (p.Ala28Gly) c.128C>G (p.Ala43Gly) c.125C>G (p.Ala42Gly) c.59-6317C>G (n.59-6317C>G) n.343C>G c.11C>G (p.Ala4Gly) n.390C>G | gnomAD v4 |
21 | g.34887030G= | CA913189255 | RUNX1 | c.164C= (p.Ala55=) c.83C= (p.Ala28=) c.128C= (p.Ala43=) c.125C= (p.Ala42=) c.59-6317C= (n.59-6317C=) n.343C= c.11C= (p.Ala4=) n.390C= | |
21 | g.34887030G>T | CA410204054 | RUNX1 | c.164C>A (p.Ala55Glu) c.83C>A (p.Ala28Glu) c.128C>A (p.Ala43Glu) c.125C>A (p.Ala42Glu) c.59-6317C>A (n.59-6317C>A) n.343C>A c.11C>A (p.Ala4Glu) n.390C>A | ClinVar dbSNP |
21 | g.34887030dup | CA913189257 | RUNX1 | c.164dup (p.Leu56ValfsTer?) c.83dup (p.Leu29ValfsTer?) c.128dup (p.Leu44ValfsTer?) c.125dup (p.Leu43ValfsTer?) c.59-6317dup (n.59-6317dup) n.343dup c.11dup (p.Leu5ValfsTer?) n.390dup | |
21 | g.34887030_34887031insT | CA916086495 | RUNX1 | c.163_164insA (p.Ala55AspfsTer?) c.82_83insA (p.Ala28AspfsTer?) c.127_128insA (p.Ala43AspfsTer?) c.124_125insA (p.Ala42AspfsTer?) c.59-6318_59-6317insA (n.59-6318_59-6317insA) n.342_343insA c.10_11insA (p.Ala4AspfsTer?) n.389_390insA | |
21 | g.34887031C>A | CA410204056 | RUNX1 | c.163G>T (p.Ala55Ser) c.82G>T (p.Ala28Ser) c.127G>T (p.Ala43Ser) c.124G>T (p.Ala42Ser) c.59-6318G>T (n.59-6318G>T) n.342G>T c.10G>T (p.Ala4Ser) n.389G>T | |
21 | g.34887031C= | CA2387297221 | RUNX1 | c.163G= (p.Ala55=) c.82G= (p.Ala28=) c.127G= (p.Ala43=) c.124G= (p.Ala42=) c.59-6318G= (n.59-6318G=) n.342G= c.10G= (p.Ala4=) n.389G= | |
21 | g.34887031C>G | CA410204058 | RUNX1 | c.163G>C (p.Ala55Pro) c.82G>C (p.Ala28Pro) c.127G>C (p.Ala43Pro) c.124G>C (p.Ala42Pro) c.59-6318G>C (n.59-6318G>C) n.342G>C c.10G>C (p.Ala4Pro) n.389G>C | |
21 | g.34887031C>T | CA410204059 | RUNX1 | c.163G>A (p.Ala55Thr) c.82G>A (p.Ala28Thr) c.127G>A (p.Ala43Thr) c.124G>A (p.Ala42Thr) c.59-6318G>A (n.59-6318G>A) n.342G>A c.10G>A (p.Ala4Thr) n.389G>A | dbSNP gnomAD v2 |
21 | g.34887032dup | CA913189259 | RUNX1 | c.163dup (p.Ala55GlyfsTer?) c.82dup (p.Ala28GlyfsTer?) c.127dup (p.Ala43GlyfsTer?) c.124dup (p.Ala42GlyfsTer?) c.59-6318dup (n.59-6318dup) n.342dup c.10dup (p.Ala4GlyfsTer?) n.389dup | |
21 | g.34887032C>A | CA410204062 | RUNX1 | c.162G>T (p.Glu54Asp) c.81G>T (p.Glu27Asp) c.126G>T (p.Glu42Asp) c.123G>T (p.Glu41Asp) c.59-6319G>T (n.59-6319G>T) n.341G>T c.9G>T (p.Glu3Asp) n.388G>T | gnomAD v4 |
21 | g.34887032C>G | CA410204064 | RUNX1 | c.162G>C (p.Glu54Asp) c.81G>C (p.Glu27Asp) c.126G>C (p.Glu42Asp) c.123G>C (p.Glu41Asp) c.59-6319G>C (n.59-6319G>C) n.341G>C c.9G>C (p.Glu3Asp) n.388G>C | |
21 | g.34887032C>T | CA512318956 | RUNX1 | c.162G>A (p.Glu54=) c.81G>A (p.Glu27=) c.126G>A (p.Glu42=) c.123G>A (p.Glu41=) c.59-6319G>A (n.59-6319G>A) n.341G>A c.9G>A (p.Glu3=) n.388G>A | |
21 | g.34887033T>A | CA410204065 | RUNX1 | c.161A>T (p.Glu54Val) c.80A>T (p.Glu27Val) c.125A>T (p.Glu42Val) c.122A>T (p.Glu41Val) c.59-6320A>T (n.59-6320A>T) n.340A>T c.8A>T (p.Glu3Val) n.387A>T | ClinVar dbSNP |
21 | g.34887033T>C | CA410204067 | RUNX1 | c.161A>G (p.Glu54Gly) c.80A>G (p.Glu27Gly) c.125A>G (p.Glu42Gly) c.122A>G (p.Glu41Gly) c.59-6320A>G (n.59-6320A>G) n.340A>G c.8A>G (p.Glu3Gly) n.387A>G | dbSNP |
21 | g.34887033T>G | CA410204069 | RUNX1 | c.161A>C (p.Glu54Ala) c.80A>C (p.Glu27Ala) c.125A>C (p.Glu42Ala) c.122A>C (p.Glu41Ala) c.59-6320A>C (n.59-6320A>C) n.340A>C c.8A>C (p.Glu3Ala) n.387A>C | |
21 | g.34887033T= | CA2387297222 | RUNX1 | c.161A= (p.Glu54=) c.80A= (p.Glu27=) c.125A= (p.Glu42=) c.122A= (p.Glu41=) c.59-6320A= (n.59-6320A=) n.340A= c.8A= (p.Glu3=) n.387A= | |
21 | g.34887034C>A | CA410204072 | RUNX1 | c.160G>T (p.Glu54Ter) c.79G>T (p.Glu27Ter) c.124G>T (p.Glu42Ter) c.121G>T (p.Glu41Ter) c.59-6321G>T (n.59-6321G>T) n.339G>T c.7G>T (p.Glu3Ter) n.386G>T | dbSNP gnomAD v4 |
21 | g.34887034C>G | CA410204074 | RUNX1 | c.160G>C (p.Glu54Gln) c.79G>C (p.Glu27Gln) c.124G>C (p.Glu42Gln) c.121G>C (p.Glu41Gln) c.59-6321G>C (n.59-6321G>C) n.339G>C c.7G>C (p.Glu3Gln) n.386G>C | ClinVar dbSNP gnomAD v4 COSMIC |
21 | g.34887034C>T | CA410204071 | RUNX1 | c.160G>A (p.Glu54Lys) c.79G>A (p.Glu27Lys) c.124G>A (p.Glu42Lys) c.121G>A (p.Glu41Lys) c.59-6321G>A (n.59-6321G>A) n.339G>A c.7G>A (p.Glu3Lys) n.386G>A | ClinVar dbSNP |
21 | g.34887034_34887035delinsCG | CA2387297223 | RUNX1 | c.159_160delinsCG (p.Ser53=) c.78_79delinsCG (p.Ser26=) c.123_124delinsCG (p.Ser41=) c.120_121delinsCG (p.Ser40=) c.59-6322_59-6321delinsCG (n.59-6322_59-6321delinsCG) n.338_339delinsCG c.6_7delinsCG (p.Ser2=) n.385_386delinsCG | |
21 | g.34887035del | CA658824424 | RUNX1 | c.159del (p.Ser53ArgfsTer19) c.78del (p.Ser26ArgfsTer19) c.123del (p.Ser41ArgfsTer19) c.120del (p.Ser40ArgfsTer19) c.59-6322del (n.59-6322del) n.338del c.6del (p.Ser2ArgfsTer19) n.385del | ClinVar dbSNP |
21 | g.34887035G>A | CA512318957 | RUNX1 | c.159C>T (p.Ser53=) c.78C>T (p.Ser26=) c.123C>T (p.Ser41=) c.120C>T (p.Ser40=) c.59-6322C>T (n.59-6322C>T) n.338C>T c.6C>T (p.Ser2=) n.385C>T | dbSNP gnomAD v4 |
21 | g.34887035G>C | CA410204076 | RUNX1 | c.159C>G (p.Ser53Arg) c.78C>G (p.Ser26Arg) c.123C>G (p.Ser41Arg) c.120C>G (p.Ser40Arg) c.59-6322C>G (n.59-6322C>G) n.338C>G c.6C>G (p.Ser2Arg) n.385C>G | dbSNP gnomAD v4 |
21 | g.34887035G>T | CA410204078 | RUNX1 | c.159C>A (p.Ser53Arg) c.78C>A (p.Ser26Arg) c.123C>A (p.Ser41Arg) c.120C>A (p.Ser40Arg) c.59-6322C>A (n.59-6322C>A) n.338C>A c.6C>A (p.Ser2Arg) n.385C>A | gnomAD v4 |
21 | g.34887035_34887036insGG | CA2695202088 | RUNX1 | c.159_160insCC (p.Glu54ProfsTer19) c.78_79insCC (p.Glu27ProfsTer19) c.123_124insCC (p.Glu42ProfsTer19) c.120_121insCC (p.Glu41ProfsTer19) c.59-6322_59-6321insCC (n.59-6322_59-6321insCC) n.338_339insCC c.6_7insCC (p.Glu3ProfsTer19) n.385_386insCC | |
21 | g.34887036C>A | CA410204080 | RUNX1 | c.158G>T (p.Ser53Ile) c.77G>T (p.Ser26Ile) c.122G>T (p.Ser41Ile) c.119G>T (p.Ser40Ile) c.59-6323G>T (n.59-6323G>T) n.337G>T c.5G>T (p.Ser2Ile) n.384G>T | |
21 | g.34887036C= | CA2387297224 | RUNX1 | c.158G= (p.Ser53=) c.77G= (p.Ser26=) c.122G= (p.Ser41=) c.119G= (p.Ser40=) c.59-6323G= (n.59-6323G=) n.337G= c.5G= (p.Ser2=) n.384G= | |
21 | g.34887036C>G | CA410204082 | RUNX1 | c.158G>C (p.Ser53Thr) c.77G>C (p.Ser26Thr) c.122G>C (p.Ser41Thr) c.119G>C (p.Ser40Thr) c.59-6323G>C (n.59-6323G>C) n.337G>C c.5G>C (p.Ser2Thr) n.384G>C | |
21 | g.34887036C>T | CA10014580 | RUNX1 | c.158G>A (p.Ser53Asn) c.77G>A (p.Ser26Asn) c.122G>A (p.Ser41Asn) c.119G>A (p.Ser40Asn) c.59-6323G>A (n.59-6323G>A) n.337G>A c.5G>A (p.Ser2Asn) n.384G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34887038_34887047dup | CA2499225884 | RUNX1 | c.149_158dup (p.Ser53ArgfsTer?) c.68_77dup (p.Ser26ArgfsTer?) c.113_122dup (p.Ser41ArgfsTer?) c.110_119dup (p.Ser40ArgfsTer?) c.59-6332_59-6323dup (n.59-6332_59-6323dup) n.328_337dup c.-5_5dup (p.Ser2ArgfsTer?) n.375_384dup | ClinVar dbSNP |
21 | g.34887037del | CA645607466 | RUNX1 | c.157del (p.Ser53AlafsTer19) c.76del (p.Ser26AlafsTer19) c.121del (p.Ser41AlafsTer19) c.118del (p.Ser40AlafsTer19) c.59-6324del (n.59-6324del) n.336del c.4del (p.Ser2AlafsTer19) n.383del | COSMIC |
21 | g.34887037T>A | CA410204085 | RUNX1 | c.157A>T (p.Ser53Cys) c.76A>T (p.Ser26Cys) c.121A>T (p.Ser41Cys) c.118A>T (p.Ser40Cys) c.59-6324A>T (n.59-6324A>T) n.336A>T c.4A>T (p.Ser2Cys) n.383A>T | |
21 | g.34887037T>C | CA410204087 | RUNX1 | c.157A>G (p.Ser53Gly) c.76A>G (p.Ser26Gly) c.121A>G (p.Ser41Gly) c.118A>G (p.Ser40Gly) c.59-6324A>G (n.59-6324A>G) n.336A>G c.4A>G (p.Ser2Gly) n.383A>G | ClinVar dbSNP |
21 | g.34887037T>G | CA410204089 | RUNX1 | c.157A>C (p.Ser53Arg) c.76A>C (p.Ser26Arg) c.121A>C (p.Ser41Arg) c.118A>C (p.Ser40Arg) c.59-6324A>C (n.59-6324A>C) n.336A>C c.4A>C (p.Ser2Arg) n.383A>C | dbSNP |
21 | g.34887037T= | CA2387297225 | RUNX1 | c.157A= (p.Ser53=) c.76A= (p.Ser26=) c.121A= (p.Ser41=) c.118A= (p.Ser40=) c.59-6324A= (n.59-6324A=) n.336A= c.4A= (p.Ser2=) n.383A= | |
21 | g.34887038C>A | CA410204091 | RUNX1 | c.156G>T (p.Met52Ile) c.75G>T (p.Met25Ile) c.120G>T (p.Met40Ile) c.117G>T (p.Met39Ile) c.59-6325G>T (n.59-6325G>T) n.335G>T c.3G>T (p.Met1Ile) n.382G>T | gnomAD v4 |
21 | g.34887038C= | CA2387297226 | RUNX1 | c.156G= (p.Met52=) c.75G= (p.Met25=) c.120G= (p.Met40=) c.117G= (p.Met39=) c.59-6325G= (n.59-6325G=) n.335G= c.3G= (p.Met1=) n.382G= | |
21 | g.34887038C>G | CA410204093 | RUNX1 | c.156G>C (p.Met52Ile) c.75G>C (p.Met25Ile) c.120G>C (p.Met40Ile) c.117G>C (p.Met39Ile) c.59-6325G>C (n.59-6325G>C) n.335G>C c.3G>C (p.Met1Ile) n.382G>C | |
21 | g.34887038C>T | CA410204095 | RUNX1 | c.156G>A (p.Met52Ile) c.75G>A (p.Met25Ile) c.120G>A (p.Met40Ile) c.117G>A (p.Met39Ile) c.59-6325G>A (n.59-6325G>A) n.335G>A c.3G>A (p.Met1Ile) n.382G>A | ClinVar dbSNP |
21 | g.34887039A= | CA2387297227 | RUNX1 | c.155T= (p.Met52=) c.74T= (p.Met25=) c.119T= (p.Met40=) c.116T= (p.Met39=) c.59-6326T= (n.59-6326T=) n.334T= c.2T= (p.Met1=) n.381T= | |
21 | g.34887039A>C | CA410204098 | RUNX1 | c.155T>G (p.Met52Arg) c.74T>G (p.Met25Arg) c.119T>G (p.Met40Arg) c.116T>G (p.Met39Arg) c.59-6326T>G (n.59-6326T>G) n.334T>G c.2T>G (p.Met1Arg) n.381T>G | |
21 | g.34887039A>G | CA320642941 | RUNX1 | c.155T>C (p.Met52Thr) c.74T>C (p.Met25Thr) c.119T>C (p.Met40Thr) c.116T>C (p.Met39Thr) c.59-6326T>C (n.59-6326T>C) n.334T>C c.2T>C (p.Met1Thr) n.381T>C | dbSNP gnomAD v4 |
21 | g.34887039A>T | CA10014581 | RUNX1 | c.155T>A (p.Met52Lys) c.74T>A (p.Met25Lys) c.119T>A (p.Met40Lys) c.116T>A (p.Met39Lys) c.59-6326T>A (n.59-6326T>A) n.334T>A c.2T>A (p.Met1Lys) n.381T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.34887040T>A | CA410204101 | RUNX1 | c.154A>T (p.Met52Leu) c.73A>T (p.Met25Leu) c.118A>T (p.Met40Leu) c.115A>T (p.Met39Leu) c.59-6327A>T (n.59-6327A>T) n.333A>T c.1A>T (p.Met1Leu) n.380A>T | |
21 | g.34887040T>C | CA410204103 | RUNX1 | c.154A>G (p.Met52Val) c.73A>G (p.Met25Val) c.118A>G (p.Met40Val) c.115A>G (p.Met39Val) c.59-6327A>G (n.59-6327A>G) n.333A>G c.1A>G (p.Met1Val) n.380A>G | ClinVar |
21 | g.34887040T>G | CA410204104 | RUNX1 | c.154A>C (p.Met52Leu) c.73A>C (p.Met25Leu) c.118A>C (p.Met40Leu) c.115A>C (p.Met39Leu) c.59-6327A>C (n.59-6327A>C) n.333A>C c.1A>C (p.Met1Leu) n.380A>C | |
21 | g.34887041C>A | CA10014582 | RUNX1 | c.153G>T (p.Lys51Asn) c.72G>T (p.Lys24Asn) c.117G>T (p.Lys39Asn) c.114G>T (p.Lys38Asn) c.59-6328G>T (n.59-6328G>T) n.332G>T c.-1G>T (n.-1G>T) n.379G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
21 | g.34887041C= | CA2387297228 | RUNX1 | c.153G= (p.Lys51=) c.72G= (p.Lys24=) c.117G= (p.Lys39=) c.114G= (p.Lys38=) c.59-6328G= (n.59-6328G=) n.332G= c.-1G= (n.-1G=) n.379G= | |
21 | g.34887041C>G | CA410204108 | RUNX1 | c.153G>C (p.Lys51Asn) c.72G>C (p.Lys24Asn) c.117G>C (p.Lys39Asn) c.114G>C (p.Lys38Asn) c.59-6328G>C (n.59-6328G>C) n.332G>C c.-1G>C (n.-1G>C) n.379G>C | |
21 | g.34887041C>T | CA512318958 | RUNX1 | c.153G>A (p.Lys51=) c.72G>A (p.Lys24=) c.117G>A (p.Lys39=) c.114G>A (p.Lys38=) c.59-6328G>A (n.59-6328G>A) n.332G>A c.-1G>A (n.-1G>A) n.379G>A | |
21 | g.34887041dup | CA645607468 | RUNX1 | c.153dup (p.Met52AspfsTer?) c.72dup (p.Met25AspfsTer?) c.117dup (p.Met40AspfsTer?) c.114dup (p.Met39AspfsTer?) c.59-6328dup (n.59-6328dup) n.332dup c.-1dup (p.Met1AspfsTer?) n.379dup | COSMIC |
21 | g.34887042T>A | CA410204114 | RUNX1 | c.152A>T (p.Lys51Met) c.71A>T (p.Lys24Met) c.116A>T (p.Lys39Met) c.113A>T (p.Lys38Met) c.59-6329A>T (n.59-6329A>T) n.331A>T c.-2A>T (n.-2A>T) n.378A>T | dbSNP |
21 | g.34887042T>C | CA410204111 | RUNX1 | c.152A>G (p.Lys51Arg) c.71A>G (p.Lys24Arg) c.116A>G (p.Lys39Arg) c.113A>G (p.Lys38Arg) c.59-6329A>G (n.59-6329A>G) n.331A>G c.-2A>G (n.-2A>G) n.378A>G | gnomAD v4 |
21 | g.34887042T>G | CA410204113 | RUNX1 | c.152A>C (p.Lys51Thr) c.71A>C (p.Lys24Thr) c.116A>C (p.Lys39Thr) c.113A>C (p.Lys38Thr) c.59-6329A>C (n.59-6329A>C) n.331A>C c.-2A>C (n.-2A>C) n.378A>C | |
21 | g.34887043dup | CA2573105910 | RUNX1 | c.152dup (p.Met52AspfsTer?) c.71dup (p.Met25AspfsTer?) c.116dup (p.Met40AspfsTer?) c.113dup (p.Met39AspfsTer?) c.59-6329dup (n.59-6329dup) n.331dup c.-2dup (n.-2dup) n.378dup | |
21 | g.34887043T>A | CA410204116 | RUNX1 | c.151A>T (p.Lys51Ter) c.70A>T (p.Lys24Ter) c.115A>T (p.Lys39Ter) c.112A>T (p.Lys38Ter) c.59-6330A>T (n.59-6330A>T) n.330A>T c.-3A>T (n.-3A>T) n.377A>T | |
21 | g.34887043T>C | CA410204118 | RUNX1 | c.151A>G (p.Lys51Glu) c.70A>G (p.Lys24Glu) c.115A>G (p.Lys39Glu) c.112A>G (p.Lys38Glu) c.59-6330A>G (n.59-6330A>G) n.330A>G c.-3A>G (n.-3A>G) n.377A>G | |
21 | g.34887043T>G | CA410204119 | RUNX1 | c.151A>C (p.Lys51Gln) c.70A>C (p.Lys24Gln) c.115A>C (p.Lys39Gln) c.112A>C (p.Lys38Gln) c.59-6330A>C (n.59-6330A>C) n.330A>C c.-3A>C (n.-3A>C) n.377A>C | |
21 | g.34887044G>A | CA512318961 | RUNX1 | c.150C>T (p.Gly50=) c.69C>T (p.Gly23=) c.114C>T (p.Gly38=) c.111C>T (p.Gly37=) c.59-6331C>T (n.59-6331C>T) n.329C>T c.-4C>T (n.-4C>T) n.376C>T | |
21 | g.34887044G>C | CA512318959 | RUNX1 | c.150C>G (p.Gly50=) c.69C>G (p.Gly23=) c.114C>G (p.Gly38=) c.111C>G (p.Gly37=) c.59-6331C>G (n.59-6331C>G) n.329C>G c.-4C>G (n.-4C>G) n.376C>G | dbSNP |
21 | g.34887044G= | CA2387297229 | RUNX1 | c.150C= (p.Gly50=) c.69C= (p.Gly23=) c.114C= (p.Gly38=) c.111C= (p.Gly37=) c.59-6331C= (n.59-6331C=) n.329C= c.-4C= (n.-4C=) n.376C= | |
21 | g.34887044G>T | CA512318960 | RUNX1 | c.150C>A (p.Gly50=) c.69C>A (p.Gly23=) c.114C>A (p.Gly38=) c.111C>A (p.Gly37=) c.59-6331C>A (n.59-6331C>A) n.329C>A c.-4C>A (n.-4C>A) n.376C>A | |
21 | g.34887046_34887056del | CA2499225885 | RUNX1 | c.140_150del (p.Leu47GlnfsTer?) c.59_69del (p.Leu20GlnfsTer?) c.104_114del (p.Leu35GlnfsTer?) c.101_111del (p.Leu34GlnfsTer?) c.59-6341_59-6331del (n.59-6341_59-6331del) n.319_329del c.-14_-4del (n.-14_-4del) n.366_376del | ClinVar dbSNP |
21 | g.34887045C>A | CA410204121 | RUNX1 | c.149G>T (p.Gly50Val) c.68G>T (p.Gly23Val) c.113G>T (p.Gly38Val) c.110G>T (p.Gly37Val) c.59-6332G>T (n.59-6332G>T) n.328G>T c.-5G>T (n.-5G>T) n.375G>T | dbSNP |
21 | g.34887045C>G | CA410204122 | RUNX1 | c.149G>C (p.Gly50Ala) c.68G>C (p.Gly23Ala) c.113G>C (p.Gly38Ala) c.110G>C (p.Gly37Ala) c.59-6332G>C (n.59-6332G>C) n.328G>C c.-5G>C (n.-5G>C) n.375G>C | |
21 | g.34887045C>T | CA410204124 | RUNX1 | c.149G>A (p.Gly50Asp) c.68G>A (p.Gly23Asp) c.113G>A (p.Gly38Asp) c.110G>A (p.Gly37Asp) c.59-6332G>A (n.59-6332G>A) n.328G>A c.-5G>A (n.-5G>A) n.375G>A | ClinVar dbSNP gnomAD v4 |