Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |
21 | g.34887046C>A | CA410204128 | RUNX1 | c.148G>T (p.Gly50Cys) c.67G>T (p.Gly23Cys) c.112G>T (p.Gly38Cys) c.109G>T (p.Gly37Cys) c.148G>T c.59-6333G>T (n.59-6333G>T) n.327G>T c.-6G>T (n.-6G>T) n.374G>T | dbSNP |
21 | g.34887046C>G | CA410204129 | RUNX1 | c.148G>C (p.Gly50Arg) c.67G>C (p.Gly23Arg) c.112G>C (p.Gly38Arg) c.109G>C (p.Gly37Arg) c.148G>C c.59-6333G>C (n.59-6333G>C) n.327G>C c.-6G>C (n.-6G>C) n.374G>C | ClinVar |
21 | g.34887046C>T | CA410204126 | RUNX1 | c.148G>A (p.Gly50Ser) c.67G>A (p.Gly23Ser) c.112G>A (p.Gly38Ser) c.109G>A (p.Gly37Ser) c.148G>A c.59-6333G>A (n.59-6333G>A) n.327G>A c.-6G>A (n.-6G>A) n.374G>A | |
21 | g.34887047del | CA645607469 | RUNX1 | c.147del (p.Gly50AlafsTer3) c.66del (p.Gly23AlafsTer3) c.111del (p.Gly38AlafsTer3) c.108del (p.Gly37AlafsTer3) c.147del (p.Pro49=) c.59-6334del (n.59-6334del) n.326del c.-7del (n.-7del) n.373del | COSMIC COSMIC |
21 | g.34887047T>A | CA512318964 | RUNX1 | c.147A>T (p.Pro49=) c.66A>T (p.Pro22=) c.111A>T (p.Pro37=) c.108A>T (p.Pro36=) c.59-6334A>T (n.59-6334A>T) n.326A>T c.-7A>T (n.-7A>T) n.373A>T | |
21 | g.34887047T>C | CA512318963 | RUNX1 | c.147A>G (p.Pro49=) c.66A>G (p.Pro22=) c.111A>G (p.Pro37=) c.108A>G (p.Pro36=) c.59-6334A>G (n.59-6334A>G) n.326A>G c.-7A>G (n.-7A>G) n.373A>G | ClinVar |
21 | g.34887047T>G | CA512318962 | RUNX1 | c.147A>C (p.Pro49=) c.66A>C (p.Pro22=) c.111A>C (p.Pro37=) c.108A>C (p.Pro36=) c.59-6334A>C (n.59-6334A>C) n.326A>C c.-7A>C (n.-7A>C) n.373A>C | COSMIC COSMIC |
21 | g.34887048G>A | CA10014583 | RUNX1 | c.146C>T (p.Pro49Leu) c.65C>T (p.Pro22Leu) c.110C>T (p.Pro37Leu) c.107C>T (p.Pro36Leu) c.59-6335C>T (n.59-6335C>T) n.325C>T c.-8C>T (n.-8C>T) n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.34887048G>C | CA410204133 | RUNX1 | c.146C>G (p.Pro49Arg) c.65C>G (p.Pro22Arg) c.110C>G (p.Pro37Arg) c.107C>G (p.Pro36Arg) c.59-6335C>G (n.59-6335C>G) n.325C>G c.-8C>G (n.-8C>G) n.372C>G | gnomAD v4 |
21 | g.34887048G= | CA2387297230 | RUNX1 | c.146C= (p.Pro49=) c.65C= (p.Pro22=) c.110C= (p.Pro37=) c.107C= (p.Pro36=) c.59-6335C= (n.59-6335C=) n.325C= c.-8C= (n.-8C=) n.372C= | |
21 | g.34887048G>T | CA410204134 | RUNX1 | c.146C>A (p.Pro49Gln) c.65C>A (p.Pro22Gln) c.110C>A (p.Pro37Gln) c.107C>A (p.Pro36Gln) c.59-6335C>A (n.59-6335C>A) n.325C>A c.-8C>A (n.-8C>A) n.372C>A | gnomAD v4 |
21 | g.34887050del | CA2580098653 | RUNX1 | c.146del (p.Pro49GlnfsTer4) c.65del (p.Pro22GlnfsTer4) c.110del (p.Pro37GlnfsTer4) c.107del (p.Pro36GlnfsTer4) c.146del (p.Pro49GlnfsTer?) c.59-6335del (n.59-6335del) n.325del c.-8del (n.-8del) n.372del | ClinVar |
21 | g.34887049G>A | CA410204137 | RUNX1 | c.145C>T (p.Pro49Ser) c.64C>T (p.Pro22Ser) c.109C>T (p.Pro37Ser) c.106C>T (p.Pro36Ser) c.59-6336C>T (n.59-6336C>T) n.324C>T c.-9C>T (n.-9C>T) n.371C>T | ClinVar |
21 | g.34887049G>C | CA10014584 | RUNX1 | c.145C>G (p.Pro49Ala) c.64C>G (p.Pro22Ala) c.109C>G (p.Pro37Ala) c.106C>G (p.Pro36Ala) c.59-6336C>G (n.59-6336C>G) n.324C>G c.-9C>G (n.-9C>G) n.371C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34887049G= | CA2387297231 | RUNX1 | c.145C= (p.Pro49=) c.64C= (p.Pro22=) c.109C= (p.Pro37=) c.106C= (p.Pro36=) c.59-6336C= (n.59-6336C=) n.324C= c.-9C= (n.-9C=) n.371C= | |
21 | g.34887049G>T | CA320642967 | RUNX1 | c.145C>A (p.Pro49Thr) c.64C>A (p.Pro22Thr) c.109C>A (p.Pro37Thr) c.106C>A (p.Pro36Thr) c.59-6336C>A (n.59-6336C>A) n.324C>A c.-9C>A (n.-9C>A) n.371C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34887050G>A | CA10014585 | RUNX1 | c.144C>T (p.Ser48=) c.63C>T (p.Ser21=) c.108C>T (p.Ser36=) c.105C>T (p.Ser35=) c.59-6337C>T (n.59-6337C>T) n.323C>T c.-10C>T (n.-10C>T) n.370C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887050G>C | CA410204140 | RUNX1 | c.144C>G (p.Ser48Arg) c.63C>G (p.Ser21Arg) c.108C>G (p.Ser36Arg) c.105C>G (p.Ser35Arg) c.59-6337C>G (n.59-6337C>G) n.323C>G c.-10C>G (n.-10C>G) n.370C>G | |
21 | g.34887050G= | CA2387297232 | RUNX1 | c.144C= (p.Ser48=) c.63C= (p.Ser21=) c.108C= (p.Ser36=) c.105C= (p.Ser35=) c.59-6337C= (n.59-6337C=) n.323C= c.-10C= (n.-10C=) n.370C= | |
21 | g.34887050G>T | CA410204142 | RUNX1 | c.144C>A (p.Ser48Arg) c.63C>A (p.Ser21Arg) c.108C>A (p.Ser36Arg) c.105C>A (p.Ser35Arg) c.59-6337C>A (n.59-6337C>A) n.323C>A c.-10C>A (n.-10C>A) n.370C>A | ClinVar gnomAD v4 |
21 | g.34887051C>A | CA410204145 | RUNX1 | c.143G>T (p.Ser48Ile) c.62G>T (p.Ser21Ile) c.107G>T (p.Ser36Ile) c.104G>T (p.Ser35Ile) c.59-6338G>T (n.59-6338G>T) n.322G>T c.-11G>T (n.-11G>T) n.369G>T | |
21 | g.34887051C= | CA2387297233 | RUNX1 | c.143G= (p.Ser48=) c.62G= (p.Ser21=) c.107G= (p.Ser36=) c.104G= (p.Ser35=) c.59-6338G= (n.59-6338G=) n.322G= c.-11G= (n.-11G=) n.369G= | |
21 | g.34887051C>G | CA410204147 | RUNX1 | c.143G>C (p.Ser48Thr) c.62G>C (p.Ser21Thr) c.107G>C (p.Ser36Thr) c.104G>C (p.Ser35Thr) c.59-6338G>C (n.59-6338G>C) n.322G>C c.-11G>C (n.-11G>C) n.369G>C | |
21 | g.34887051C>T | CA10014586 | RUNX1 | c.143G>A (p.Ser48Asn) c.62G>A (p.Ser21Asn) c.107G>A (p.Ser36Asn) c.104G>A (p.Ser35Asn) c.59-6338G>A (n.59-6338G>A) n.322G>A c.-11G>A (n.-11G>A) n.369G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34887052T>A | CA410204150 | RUNX1 | c.142A>T (p.Ser48Cys) c.61A>T (p.Ser21Cys) c.106A>T (p.Ser36Cys) c.103A>T (p.Ser35Cys) c.59-6339A>T (n.59-6339A>T) n.321A>T c.-12A>T (n.-12A>T) n.368A>T | dbSNP |
21 | g.34887052T>C | CA410204152 | RUNX1 | c.142A>G (p.Ser48Gly) c.61A>G (p.Ser21Gly) c.106A>G (p.Ser36Gly) c.103A>G (p.Ser35Gly) c.59-6339A>G (n.59-6339A>G) n.321A>G c.-12A>G (n.-12A>G) n.368A>G | dbSNP |
21 | g.34887052T>G | CA410204153 | RUNX1 | c.142A>C (p.Ser48Arg) c.61A>C (p.Ser21Arg) c.106A>C (p.Ser36Arg) c.103A>C (p.Ser35Arg) c.59-6339A>C (n.59-6339A>C) n.321A>C c.-12A>C (n.-12A>C) n.368A>C | |
21 | g.34887053C>A | CA512318967 | RUNX1 | c.141G>T (p.Leu47=) c.60G>T (p.Leu20=) c.105G>T (p.Leu35=) c.102G>T (p.Leu34=) c.59-6340G>T (n.59-6340G>T) n.320G>T c.-13G>T (n.-13G>T) n.367G>T | |
21 | g.34887053C>G | CA512318966 | RUNX1 | c.141G>C (p.Leu47=) c.60G>C (p.Leu20=) c.105G>C (p.Leu35=) c.102G>C (p.Leu34=) c.59-6340G>C (n.59-6340G>C) n.320G>C c.-13G>C (n.-13G>C) n.367G>C | |
21 | g.34887053C>T | CA512318965 | RUNX1 | c.141G>A (p.Leu47=) c.60G>A (p.Leu20=) c.105G>A (p.Leu35=) c.102G>A (p.Leu34=) c.59-6340G>A (n.59-6340G>A) n.320G>A c.-13G>A (n.-13G>A) n.367G>A | |
21 | g.34887054A= | CA2387297234 | RUNX1 | c.140T= (p.Leu47=) c.59T= (p.Leu20=) c.104T= (p.Leu35=) c.101T= (p.Leu34=) c.59-6341T= (n.59-6341T=) n.319T= c.-14T= (n.-14T=) n.366T= | |
21 | g.34887054A>C | CA410204156 | RUNX1 | c.140T>G (p.Leu47Arg) c.59T>G (p.Leu20Arg) c.104T>G (p.Leu35Arg) c.101T>G (p.Leu34Arg) c.59-6341T>G (n.59-6341T>G) n.319T>G c.-14T>G (n.-14T>G) n.366T>G | |
21 | g.34887054A>G | CA10014587 | RUNX1 | c.140T>C (p.Leu47Pro) c.59T>C (p.Leu20Pro) c.104T>C (p.Leu35Pro) c.101T>C (p.Leu34Pro) c.59-6341T>C (n.59-6341T>C) n.319T>C c.-14T>C (n.-14T>C) n.366T>C | dbSNP ExAC gnomAD v2 |
21 | g.34887054A>T | CA10014588 | RUNX1 | c.140T>A (p.Leu47Gln) c.59T>A (p.Leu20Gln) c.104T>A (p.Leu35Gln) c.101T>A (p.Leu34Gln) c.59-6341T>A (n.59-6341T>A) n.319T>A c.-14T>A (n.-14T>A) n.366T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34887055G>A | CA512318968 | RUNX1 | c.139C>T (p.Leu47=) c.58C>T (p.Leu20=) c.103C>T (p.Leu35=) c.100C>T (p.Leu34=) c.59-6342C>T (n.59-6342C>T) n.318C>T c.-15C>T (n.-15C>T) n.365C>T | |
21 | g.34887055G>C | CA410204168 | RUNX1 | c.139C>G (p.Leu47Val) c.58C>G (p.Leu20Val) c.103C>G (p.Leu35Val) c.100C>G (p.Leu34Val) c.59-6342C>G (n.59-6342C>G) n.318C>G c.-15C>G (n.-15C>G) n.365C>G | |
21 | g.34887055G>T | CA410204170 | RUNX1 | c.139C>A (p.Leu47Met) c.58C>A (p.Leu20Met) c.103C>A (p.Leu35Met) c.100C>A (p.Leu34Met) c.59-6342C>A (n.59-6342C>A) n.318C>A c.-15C>A (n.-15C>A) n.365C>A | |
21 | g.34887056C>A | CA10014589 | RUNX1 | c.138G>T (p.Ala46=) c.57G>T (p.Ala19=) c.102G>T (p.Ala34=) c.99G>T (p.Ala33=) c.59-6343G>T (n.59-6343G>T) n.317G>T c.-16G>T (n.-16G>T) n.364G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34887056C= | CA2387297235 | RUNX1 | c.138G= (p.Ala46=) c.57G= (p.Ala19=) c.102G= (p.Ala34=) c.99G= (p.Ala33=) c.59-6343G= (n.59-6343G=) n.317G= c.-16G= (n.-16G=) n.364G= | |
21 | g.34887056C>G | CA512318969 | RUNX1 | c.138G>C (p.Ala46=) c.57G>C (p.Ala19=) c.102G>C (p.Ala34=) c.99G>C (p.Ala33=) c.59-6343G>C (n.59-6343G>C) n.317G>C c.-16G>C (n.-16G>C) n.364G>C | dbSNP |
21 | g.34887056C>T | CA512318970 | RUNX1 | c.138G>A (p.Ala46=) c.57G>A (p.Ala19=) c.102G>A (p.Ala34=) c.99G>A (p.Ala33=) c.59-6343G>A (n.59-6343G>A) n.317G>A c.-16G>A (n.-16G>A) n.364G>A | dbSNP gnomAD v4 |
21 | g.34887057G>A | CA410204173 | RUNX1 | c.137C>T (p.Ala46Val) c.56C>T (p.Ala19Val) c.101C>T (p.Ala34Val) c.98C>T (p.Ala33Val) c.59-6344C>T (n.59-6344C>T) n.316C>T c.-17C>T (n.-17C>T) n.363C>T | gnomAD v4 |
21 | g.34887057G>C | CA410204182 | RUNX1 | c.137C>G (p.Ala46Gly) c.56C>G (p.Ala19Gly) c.101C>G (p.Ala34Gly) c.98C>G (p.Ala33Gly) c.59-6344C>G (n.59-6344C>G) n.316C>G c.-17C>G (n.-17C>G) n.363C>G | |
21 | g.34887057G>T | CA410204185 | RUNX1 | c.137C>A (p.Ala46Glu) c.56C>A (p.Ala19Glu) c.101C>A (p.Ala34Glu) c.98C>A (p.Ala33Glu) c.59-6344C>A (n.59-6344C>A) n.316C>A c.-17C>A (n.-17C>A) n.363C>A | gnomAD v4 |
21 | g.34887058C>A | CA410204196 | RUNX1 | c.136G>T (p.Ala46Ser) c.55G>T (p.Ala19Ser) c.100G>T (p.Ala34Ser) c.97G>T (p.Ala33Ser) c.59-6345G>T (n.59-6345G>T) n.315G>T c.-18G>T (n.-18G>T) n.362G>T | |
21 | g.34887058C= | CA2387297236 | RUNX1 | c.136G= (p.Ala46=) c.55G= (p.Ala19=) c.100G= (p.Ala34=) c.97G= (p.Ala33=) c.59-6345G= (n.59-6345G=) n.315G= c.-18G= (n.-18G=) n.362G= | |
21 | g.34887058C>G | CA410204198 | RUNX1 | c.136G>C (p.Ala46Pro) c.55G>C (p.Ala19Pro) c.100G>C (p.Ala34Pro) c.97G>C (p.Ala33Pro) c.59-6345G>C (n.59-6345G>C) n.315G>C c.-18G>C (n.-18G>C) n.362G>C | dbSNP |
21 | g.34887058C>T | CA410204199 | RUNX1 | c.136G>A (p.Ala46Thr) c.55G>A (p.Ala19Thr) c.100G>A (p.Ala34Thr) c.97G>A (p.Ala33Thr) c.59-6345G>A (n.59-6345G>A) n.315G>A c.-18G>A (n.-18G>A) n.362G>A | ClinVar dbSNP |
21 | g.34887059G>A | CA512318973 | RUNX1 | c.135C>T (p.Thr45=) c.54C>T (p.Thr18=) c.99C>T (p.Thr33=) c.96C>T (p.Thr32=) c.59-6346C>T (n.59-6346C>T) n.314C>T c.-19C>T (n.-19C>T) n.361C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34887059G>C | CA512318974 | RUNX1 | c.135C>G (p.Thr45=) c.54C>G (p.Thr18=) c.99C>G (p.Thr33=) c.96C>G (p.Thr32=) c.59-6346C>G (n.59-6346C>G) n.314C>G c.-19C>G (n.-19C>G) n.361C>G | ClinVar dbSNP |
21 | g.34887059G= | CA2387297237 | RUNX1 | c.135C= (p.Thr45=) c.54C= (p.Thr18=) c.99C= (p.Thr33=) c.96C= (p.Thr32=) c.59-6346C= (n.59-6346C=) n.314C= c.-19C= (n.-19C=) n.361C= | |
21 | g.34887059G>T | CA512318972 | RUNX1 | c.135C>A (p.Thr45=) c.54C>A (p.Thr18=) c.99C>A (p.Thr33=) c.96C>A (p.Thr32=) c.59-6346C>A (n.59-6346C>A) n.314C>A c.-19C>A (n.-19C>A) n.361C>A | gnomAD v4 |
21 | g.34887061_34887063del | CA2573157368 | RUNX1 | c.133_135del (p.Thr45del) c.52_54del (p.Thr18del) c.97_99del (p.Thr33del) c.94_96del (p.Thr32del) c.59-6348_59-6346del (n.59-6348_59-6346del) n.312_314del c.-21_-19del (n.-21_-19del) n.359_361del | ClinVar dbSNP |
21 | g.34887060G>A | CA410204200 | RUNX1 | c.134C>T (p.Thr45Ile) c.53C>T (p.Thr18Ile) c.98C>T (p.Thr33Ile) c.95C>T (p.Thr32Ile) c.59-6347C>T (n.59-6347C>T) n.313C>T c.-20C>T (n.-20C>T) n.360C>T | dbSNP gnomAD v4 |
21 | g.34887060G>C | CA410204202 | RUNX1 | c.134C>G (p.Thr45Ser) c.53C>G (p.Thr18Ser) c.98C>G (p.Thr33Ser) c.95C>G (p.Thr32Ser) c.59-6347C>G (n.59-6347C>G) n.313C>G c.-20C>G (n.-20C>G) n.360C>G | |
21 | g.34887060G>T | CA410204203 | RUNX1 | c.134C>A (p.Thr45Asn) c.53C>A (p.Thr18Asn) c.98C>A (p.Thr33Asn) c.95C>A (p.Thr32Asn) c.59-6347C>A (n.59-6347C>A) n.313C>A c.-20C>A (n.-20C>A) n.360C>A | |
21 | g.34887061T>A | CA410204206 | RUNX1 | c.133A>T (p.Thr45Ser) c.52A>T (p.Thr18Ser) c.97A>T (p.Thr33Ser) c.94A>T (p.Thr32Ser) c.59-6348A>T (n.59-6348A>T) n.312A>T c.-21A>T (n.-21A>T) n.359A>T | |
21 | g.34887061T>C | CA410204209 | RUNX1 | c.133A>G (p.Thr45Ala) c.52A>G (p.Thr18Ala) c.97A>G (p.Thr33Ala) c.94A>G (p.Thr32Ala) c.59-6348A>G (n.59-6348A>G) n.312A>G c.-21A>G (n.-21A>G) n.359A>G | ClinVar |
21 | g.34887061T>G | CA410204208 | RUNX1 | c.133A>C (p.Thr45Pro) c.52A>C (p.Thr18Pro) c.97A>C (p.Thr33Pro) c.94A>C (p.Thr32Pro) c.59-6348A>C (n.59-6348A>C) n.312A>C c.-21A>C (n.-21A>C) n.359A>C | |
21 | g.34887062G>A | CA512318976 | RUNX1 | c.132C>T (p.Ser44=) c.51C>T (p.Ser17=) c.96C>T (p.Ser32=) c.93C>T (p.Ser31=) c.59-6349C>T (n.59-6349C>T) n.311C>T c.-22C>T (n.-22C>T) n.358C>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.34887062G>C | CA512318975 | RUNX1 | c.132C>G (p.Ser44=) c.51C>G (p.Ser17=) c.96C>G (p.Ser32=) c.93C>G (p.Ser31=) c.59-6349C>G (n.59-6349C>G) n.311C>G c.-22C>G (n.-22C>G) n.358C>G | |
21 | g.34887062G= | CA2387297238 | RUNX1 | c.132C= (p.Ser44=) c.51C= (p.Ser17=) c.96C= (p.Ser32=) c.93C= (p.Ser31=) c.59-6349C= (n.59-6349C=) n.311C= c.-22C= (n.-22C=) n.358C= | |
21 | g.34887062G>T | CA512318977 | RUNX1 | c.132C>A (p.Ser44=) c.51C>A (p.Ser17=) c.96C>A (p.Ser32=) c.93C>A (p.Ser31=) c.59-6349C>A (n.59-6349C>A) n.311C>A c.-22C>A (n.-22C>A) n.358C>A | |
21 | g.34887063dup | CA2697547500 | RUNX1 | c.132dup (p.Thr45HisfsTer?) c.51dup (p.Thr18HisfsTer?) c.96dup (p.Thr33HisfsTer?) c.93dup (p.Thr32HisfsTer?) c.59-6349dup (n.59-6349dup) n.311dup c.-22dup (n.-22dup) n.358dup | ClinVar |
21 | g.34887063G>A | CA410204211 | RUNX1 | c.131C>T (p.Ser44Phe) c.50C>T (p.Ser17Phe) c.95C>T (p.Ser32Phe) c.92C>T (p.Ser31Phe) c.59-6350C>T (n.59-6350C>T) n.310C>T c.-23C>T (n.-23C>T) n.357C>T | |
21 | g.34887063G>C | CA410204213 | RUNX1 | c.131C>G (p.Ser44Cys) c.50C>G (p.Ser17Cys) c.95C>G (p.Ser32Cys) c.92C>G (p.Ser31Cys) c.59-6350C>G (n.59-6350C>G) n.310C>G c.-23C>G (n.-23C>G) n.357C>G | ClinVar |
21 | g.34887063G>T | CA410204215 | RUNX1 | c.131C>A (p.Ser44Tyr) c.50C>A (p.Ser17Tyr) c.95C>A (p.Ser32Tyr) c.92C>A (p.Ser31Tyr) c.59-6350C>A (n.59-6350C>A) n.310C>A c.-23C>A (n.-23C>A) n.357C>A | gnomAD v4 |
21 | g.34887064A>C | CA410204217 | RUNX1 | c.130T>G (p.Ser44Ala) c.49T>G (p.Ser17Ala) c.94T>G (p.Ser32Ala) c.91T>G (p.Ser31Ala) c.59-6351T>G (n.59-6351T>G) n.309T>G c.-24T>G (n.-24T>G) n.356T>G | |
21 | g.34887064A>G | CA410204219 | RUNX1 | c.130T>C (p.Ser44Pro) c.49T>C (p.Ser17Pro) c.94T>C (p.Ser32Pro) c.91T>C (p.Ser31Pro) c.59-6351T>C (n.59-6351T>C) n.309T>C c.-24T>C (n.-24T>C) n.356T>C | |
21 | g.34887064A>T | CA410204220 | RUNX1 | c.130T>A (p.Ser44Thr) c.49T>A (p.Ser17Thr) c.94T>A (p.Ser32Thr) c.91T>A (p.Ser31Thr) c.59-6351T>A (n.59-6351T>A) n.309T>A c.-24T>A (n.-24T>A) n.356T>A | |
21 | g.34887065A>C | CA512318978 | RUNX1 | c.129T>G (p.Pro43=) c.48T>G (p.Pro16=) c.93T>G (p.Pro31=) c.90T>G (p.Pro30=) c.59-6352T>G (n.59-6352T>G) n.308T>G c.-25T>G (n.-25T>G) n.355T>G | |
21 | g.34887065A>G | CA512318980 | RUNX1 | c.129T>C (p.Pro43=) c.48T>C (p.Pro16=) c.93T>C (p.Pro31=) c.90T>C (p.Pro30=) c.59-6352T>C (n.59-6352T>C) n.308T>C c.-25T>C (n.-25T>C) n.355T>C | |
21 | g.34887065A>T | CA512318979 | RUNX1 | c.129T>A (p.Pro43=) c.48T>A (p.Pro16=) c.93T>A (p.Pro31=) c.90T>A (p.Pro30=) c.59-6352T>A (n.59-6352T>A) n.308T>A c.-25T>A (n.-25T>A) n.355T>A | |
21 | g.34887066G>A | CA410204222 | RUNX1 | c.128C>T (p.Pro43Leu) c.47C>T (p.Pro16Leu) c.92C>T (p.Pro31Leu) c.89C>T (p.Pro30Leu) c.59-6353C>T (n.59-6353C>T) n.307C>T c.-26C>T (n.-26C>T) n.354C>T | |
21 | g.34887066G>C | CA410204224 | RUNX1 | c.128C>G (p.Pro43Arg) c.47C>G (p.Pro16Arg) c.92C>G (p.Pro31Arg) c.89C>G (p.Pro30Arg) c.59-6353C>G (n.59-6353C>G) n.307C>G c.-26C>G (n.-26C>G) n.354C>G | |
21 | g.34887066G>T | CA410204226 | RUNX1 | c.128C>A (p.Pro43His) c.47C>A (p.Pro16His) c.92C>A (p.Pro31His) c.89C>A (p.Pro30His) c.59-6353C>A (n.59-6353C>A) n.307C>A c.-26C>A (n.-26C>A) n.354C>A | |
21 | g.34887067G>A | CA410204228 | RUNX1 | c.127C>T (p.Pro43Ser) c.46C>T (p.Pro16Ser) c.91C>T (p.Pro31Ser) c.88C>T (p.Pro30Ser) c.59-6354C>T (n.59-6354C>T) n.306C>T c.-27C>T (n.-27C>T) n.353C>T | ClinVar dbSNP gnomAD v4 |
21 | g.34887067G>C | CA410204230 | RUNX1 | c.127C>G (p.Pro43Ala) c.46C>G (p.Pro16Ala) c.91C>G (p.Pro31Ala) c.88C>G (p.Pro30Ala) c.59-6354C>G (n.59-6354C>G) n.306C>G c.-27C>G (n.-27C>G) n.353C>G | |
21 | g.34887067G= | CA2387297239 | RUNX1 | c.127C= (p.Pro43=) c.46C= (p.Pro16=) c.91C= (p.Pro31=) c.88C= (p.Pro30=) c.59-6354C= (n.59-6354C=) n.306C= c.-27C= (n.-27C=) n.353C= | |
21 | g.34887067G>T | CA410204232 | RUNX1 | c.127C>A (p.Pro43Thr) c.46C>A (p.Pro16Thr) c.91C>A (p.Pro31Thr) c.88C>A (p.Pro30Thr) c.59-6354C>A (n.59-6354C>A) n.306C>A c.-27C>A (n.-27C>A) n.353C>A | |
21 | g.34887068C>A | CA512318981 | RUNX1 | c.126G>T (p.Pro42=) c.45G>T (p.Pro15=) c.90G>T (p.Pro30=) c.87G>T (p.Pro29=) c.59-6355G>T (n.59-6355G>T) n.305G>T c.-28G>T (n.-28G>T) n.352G>T | |
21 | g.34887068C= | CA2387297240 | RUNX1 | c.126G= (p.Pro42=) c.45G= (p.Pro15=) c.90G= (p.Pro30=) c.87G= (p.Pro29=) c.59-6355G= (n.59-6355G=) n.305G= c.-28G= (n.-28G=) n.352G= | |
21 | g.34887068C>G | CA512318983 | RUNX1 | c.126G>C (p.Pro42=) c.45G>C (p.Pro15=) c.90G>C (p.Pro30=) c.87G>C (p.Pro29=) c.59-6355G>C (n.59-6355G>C) n.305G>C c.-28G>C (n.-28G>C) n.352G>C | gnomAD v4 |
21 | g.34887068C>T | CA512318982 | RUNX1 | c.126G>A (p.Pro42=) c.45G>A (p.Pro15=) c.90G>A (p.Pro30=) c.87G>A (p.Pro29=) c.59-6355G>A (n.59-6355G>A) n.305G>A c.-28G>A (n.-28G>A) n.352G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887069G>A | CA410204236 | RUNX1 | c.125C>T (p.Pro42Leu) c.44C>T (p.Pro15Leu) c.89C>T (p.Pro30Leu) c.86C>T (p.Pro29Leu) c.59-6356C>T (n.59-6356C>T) n.304C>T c.-29C>T (n.-29C>T) n.351C>T | ClinVar |
21 | g.34887069G>C | CA410204237 | RUNX1 | c.125C>G (p.Pro42Arg) c.44C>G (p.Pro15Arg) c.89C>G (p.Pro30Arg) c.86C>G (p.Pro29Arg) c.59-6356C>G (n.59-6356C>G) n.304C>G c.-29C>G (n.-29C>G) n.351C>G | |
21 | g.34887069G>T | CA410204234 | RUNX1 | c.125C>A (p.Pro42Gln) c.44C>A (p.Pro15Gln) c.89C>A (p.Pro30Gln) c.86C>A (p.Pro29Gln) c.59-6356C>A (n.59-6356C>A) n.304C>A c.-29C>A (n.-29C>A) n.351C>A | ClinVar dbSNP |
21 | g.34887070G>A | CA410204241 | RUNX1 | c.124C>T (p.Pro42Ser) c.43C>T (p.Pro15Ser) c.88C>T (p.Pro30Ser) c.85C>T (p.Pro29Ser) c.59-6357C>T (n.59-6357C>T) n.303C>T c.-30C>T (n.-30C>T) n.350C>T | dbSNP |
21 | g.34887070G>C | CA410204242 | RUNX1 | c.124C>G (p.Pro42Ala) c.43C>G (p.Pro15Ala) c.88C>G (p.Pro30Ala) c.85C>G (p.Pro29Ala) c.59-6357C>G (n.59-6357C>G) n.303C>G c.-30C>G (n.-30C>G) n.350C>G | gnomAD v4 |
21 | g.34887070G>T | CA410204245 | RUNX1 | c.124C>A (p.Pro42Thr) c.43C>A (p.Pro15Thr) c.88C>A (p.Pro30Thr) c.85C>A (p.Pro29Thr) c.59-6357C>A (n.59-6357C>A) n.303C>A c.-30C>A (n.-30C>A) n.350C>A | |
21 | g.34887071C>A | CA512318984 | RUNX1 | c.123G>T (p.Thr41=) c.42G>T (p.Thr14=) c.87G>T (p.Thr29=) c.84G>T (p.Thr28=) c.59-6358G>T (n.59-6358G>T) n.302G>T c.-31G>T (n.-31G>T) n.349G>T | gnomAD v4 |
21 | g.34887071C>G | CA512318986 | RUNX1 | c.123G>C (p.Thr41=) c.42G>C (p.Thr14=) c.87G>C (p.Thr29=) c.84G>C (p.Thr28=) c.59-6358G>C (n.59-6358G>C) n.302G>C c.-31G>C (n.-31G>C) n.349G>C | ClinVar |
21 | g.34887071C>T | CA512318985 | RUNX1 | c.123G>A (p.Thr41=) c.42G>A (p.Thr14=) c.87G>A (p.Thr29=) c.84G>A (p.Thr28=) c.59-6358G>A (n.59-6358G>A) n.302G>A c.-31G>A (n.-31G>A) n.349G>A | dbSNP gnomAD v4 |
21 | g.34887072G>A | CA10014590 | RUNX1 | c.122C>T (p.Thr41Met) c.41C>T (p.Thr14Met) c.86C>T (p.Thr29Met) c.83C>T (p.Thr28Met) c.59-6359C>T (n.59-6359C>T) n.301C>T c.-32C>T (n.-32C>T) n.348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.34887072G>C | CA410204248 | RUNX1 | c.122C>G (p.Thr41Arg) c.41C>G (p.Thr14Arg) c.86C>G (p.Thr29Arg) c.83C>G (p.Thr28Arg) c.59-6359C>G (n.59-6359C>G) n.301C>G c.-32C>G (n.-32C>G) n.348C>G | |
21 | g.34887072G= | CA2387297241 | RUNX1 | c.122C= (p.Thr41=) c.41C= (p.Thr14=) c.86C= (p.Thr29=) c.83C= (p.Thr28=) c.59-6359C= (n.59-6359C=) n.301C= c.-32C= (n.-32C=) n.348C= | |
21 | g.34887072G>T | CA410204250 | RUNX1 | c.122C>A (p.Thr41Lys) c.41C>A (p.Thr14Lys) c.86C>A (p.Thr29Lys) c.83C>A (p.Thr28Lys) c.59-6359C>A (n.59-6359C>A) n.301C>A c.-32C>A (n.-32C>A) n.348C>A | dbSNP |
21 | g.34887073T>A | CA410204252 | RUNX1 | c.121A>T (p.Thr41Ser) c.40A>T (p.Thr14Ser) c.85A>T (p.Thr29Ser) c.82A>T (p.Thr28Ser) c.59-6360A>T (n.59-6360A>T) n.300A>T c.-33A>T (n.-33A>T) n.347A>T | |
21 | g.34887073T>C | CA410204256 | RUNX1 | c.121A>G (p.Thr41Ala) c.40A>G (p.Thr14Ala) c.85A>G (p.Thr29Ala) c.82A>G (p.Thr28Ala) c.59-6360A>G (n.59-6360A>G) n.300A>G c.-33A>G (n.-33A>G) n.347A>G | ClinVar |
21 | g.34887073T>G | CA410204254 | RUNX1 | c.121A>C (p.Thr41Pro) c.40A>C (p.Thr14Pro) c.85A>C (p.Thr29Pro) c.82A>C (p.Thr28Pro) c.59-6360A>C (n.59-6360A>C) n.300A>C c.-33A>C (n.-33A>C) n.347A>C | |
21 | g.34887074G>A | CA512318988 | RUNX1 | c.120C>T (p.Phe40=) c.39C>T (p.Phe13=) c.84C>T (p.Phe28=) c.81C>T (p.Phe27=) c.59-6361C>T (n.59-6361C>T) n.299C>T c.-34C>T (n.-34C>T) n.346C>T | dbSNP |
21 | g.34887074G>C | CA410204258 | RUNX1 | c.120C>G (p.Phe40Leu) c.39C>G (p.Phe13Leu) c.84C>G (p.Phe28Leu) c.81C>G (p.Phe27Leu) c.59-6361C>G (n.59-6361C>G) n.299C>G c.-34C>G (n.-34C>G) n.346C>G | |
21 | g.34887074G>T | CA410204260 | RUNX1 | c.120C>A (p.Phe40Leu) c.39C>A (p.Phe13Leu) c.84C>A (p.Phe28Leu) c.81C>A (p.Phe27Leu) c.59-6361C>A (n.59-6361C>A) n.299C>A c.-34C>A (n.-34C>A) n.346C>A | |
21 | g.34887075_34887087dup | CA916079818 | RUNX1 | c.108_120dup (p.Thr41GlufsTer?) c.27_39dup (p.Thr14GlufsTer?) c.72_84dup (p.Thr29GlufsTer?) c.69_81dup (p.Thr28GlufsTer?) c.59-6373_59-6361dup (n.59-6373_59-6361dup) n.287_299dup c.-46_-34dup (n.-46_-34dup) n.334_346dup | |
21 | g.34887075A>C | CA410204262 | RUNX1 | c.119T>G (p.Phe40Cys) c.38T>G (p.Phe13Cys) c.83T>G (p.Phe28Cys) c.80T>G (p.Phe27Cys) c.59-6362T>G (n.59-6362T>G) n.298T>G c.-35T>G (n.-35T>G) n.345T>G | |
21 | g.34887075A>G | CA410204264 | RUNX1 | c.119T>C (p.Phe40Ser) c.38T>C (p.Phe13Ser) c.83T>C (p.Phe28Ser) c.80T>C (p.Phe27Ser) c.59-6362T>C (n.59-6362T>C) n.298T>C c.-35T>C (n.-35T>C) n.345T>C | gnomAD v4 |
21 | g.34887075A>T | CA410204266 | RUNX1 | c.119T>A (p.Phe40Tyr) c.38T>A (p.Phe13Tyr) c.83T>A (p.Phe28Tyr) c.80T>A (p.Phe27Tyr) c.59-6362T>A (n.59-6362T>A) n.298T>A c.-35T>A (n.-35T>A) n.345T>A | |
21 | g.34887076A= | CA2387297242 | RUNX1 | c.118T= (p.Phe40=) c.37T= (p.Phe13=) c.82T= (p.Phe28=) c.79T= (p.Phe27=) c.59-6363T= (n.59-6363T=) n.297T= c.-36T= (n.-36T=) n.344T= | |
21 | g.34887076A>C | CA410204270 | RUNX1 | c.118T>G (p.Phe40Val) c.37T>G (p.Phe13Val) c.82T>G (p.Phe28Val) c.79T>G (p.Phe27Val) c.59-6363T>G (n.59-6363T>G) n.297T>G c.-36T>G (n.-36T>G) n.344T>G | |
21 | g.34887076A>G | CA410204272 | RUNX1 | c.118T>C (p.Phe40Leu) c.37T>C (p.Phe13Leu) c.82T>C (p.Phe28Leu) c.79T>C (p.Phe27Leu) c.59-6363T>C (n.59-6363T>C) n.297T>C c.-36T>C (n.-36T>C) n.344T>C | gnomAD v4 |
21 | g.34887076A>T | CA410204269 | RUNX1 | c.118T>A (p.Phe40Ile) c.37T>A (p.Phe13Ile) c.82T>A (p.Phe28Ile) c.79T>A (p.Phe27Ile) c.59-6363T>A (n.59-6363T>A) n.297T>A c.-36T>A (n.-36T>A) n.344T>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34887077G>A | CA512318989 | RUNX1 | c.117C>T (p.Arg39=) c.36C>T (p.Arg12=) c.81C>T (p.Arg27=) c.78C>T (p.Arg26=) c.59-6364C>T (n.59-6364C>T) n.296C>T c.-37C>T (n.-37C>T) n.343C>T | ClinVar dbSNP |
21 | g.34887077G>C | CA512318991 | RUNX1 | c.117C>G (p.Arg39=) c.36C>G (p.Arg12=) c.81C>G (p.Arg27=) c.78C>G (p.Arg26=) c.59-6364C>G (n.59-6364C>G) n.296C>G c.-37C>G (n.-37C>G) n.343C>G | |
21 | g.34887077G>T | CA512318990 | RUNX1 | c.117C>A (p.Arg39=) c.36C>A (p.Arg12=) c.81C>A (p.Arg27=) c.78C>A (p.Arg26=) c.59-6364C>A (n.59-6364C>A) n.296C>A c.-37C>A (n.-37C>A) n.343C>A | |
21 | g.34887078C>A | CA410204276 | RUNX1 | c.116G>T (p.Arg39Leu) c.35G>T (p.Arg12Leu) c.80G>T (p.Arg27Leu) c.77G>T (p.Arg26Leu) c.59-6365G>T (n.59-6365G>T) n.295G>T c.-38G>T (n.-38G>T) n.342G>T | |
21 | g.34887078C= | CA2387297243 | RUNX1 | c.116G= (p.Arg39=) c.35G= (p.Arg12=) c.80G= (p.Arg27=) c.77G= (p.Arg26=) c.59-6365G= (n.59-6365G=) n.295G= c.-38G= (n.-38G=) n.342G= | |
21 | g.34887078C>G | CA410204274 | RUNX1 | c.116G>C (p.Arg39Pro) c.35G>C (p.Arg12Pro) c.80G>C (p.Arg27Pro) c.77G>C (p.Arg26Pro) c.59-6365G>C (n.59-6365G>C) n.295G>C c.-38G>C (n.-38G>C) n.342G>C | |
21 | g.34887078C>T | CA410204278 | RUNX1 | c.116G>A (p.Arg39His) c.35G>A (p.Arg12His) c.80G>A (p.Arg27His) c.77G>A (p.Arg26His) c.59-6365G>A (n.59-6365G>A) n.295G>A c.-38G>A (n.-38G>A) n.342G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34887079G>A | CA410204280 | RUNX1 | c.115C>T (p.Arg39Cys) c.34C>T (p.Arg12Cys) c.79C>T (p.Arg27Cys) c.76C>T (p.Arg26Cys) c.59-6366C>T (n.59-6366C>T) n.294C>T c.-39C>T (n.-39C>T) n.341C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34887079G>C | CA410204282 | RUNX1 | c.115C>G (p.Arg39Gly) c.34C>G (p.Arg12Gly) c.79C>G (p.Arg27Gly) c.76C>G (p.Arg26Gly) c.59-6366C>G (n.59-6366C>G) n.294C>G c.-39C>G (n.-39C>G) n.341C>G | |
21 | g.34887079G= | CA2387297244 | RUNX1 | c.115C= (p.Arg39=) c.34C= (p.Arg12=) c.79C= (p.Arg27=) c.76C= (p.Arg26=) c.59-6366C= (n.59-6366C=) n.294C= c.-39C= (n.-39C=) n.341C= | |
21 | g.34887079G>T | CA410204283 | RUNX1 | c.115C>A (p.Arg39Ser) c.34C>A (p.Arg12Ser) c.79C>A (p.Arg27Ser) c.76C>A (p.Arg26Ser) c.59-6366C>A (n.59-6366C>A) n.294C>A c.-39C>A (n.-39C>A) n.341C>A | gnomAD v4 |
21 | g.34887080G>A | CA512318994 | RUNX1 | c.114C>T (p.Arg38=) c.33C>T (p.Arg11=) c.78C>T (p.Arg26=) c.75C>T (p.Arg25=) c.59-6367C>T (n.59-6367C>T) n.293C>T c.-40C>T (n.-40C>T) n.340C>T | ClinVar dbSNP gnomAD v4 |
21 | g.34887080G>C | CA512318992 | RUNX1 | c.114C>G (p.Arg38=) c.33C>G (p.Arg11=) c.78C>G (p.Arg26=) c.75C>G (p.Arg25=) c.59-6367C>G (n.59-6367C>G) n.293C>G c.-40C>G (n.-40C>G) n.340C>G | |
21 | g.34887080G= | CA2387297245 | RUNX1 | c.114C= (p.Arg38=) c.33C= (p.Arg11=) c.78C= (p.Arg26=) c.75C= (p.Arg25=) c.59-6367C= (n.59-6367C=) n.293C= c.-40C= (n.-40C=) n.340C= | |
21 | g.34887080G>T | CA512318993 | RUNX1 | c.114C>A (p.Arg38=) c.33C>A (p.Arg11=) c.78C>A (p.Arg26=) c.75C>A (p.Arg25=) c.59-6367C>A (n.59-6367C>A) n.293C>A c.-40C>A (n.-40C>A) n.340C>A | |
21 | g.34887081C>A | CA410204286 | RUNX1 | c.113G>T (p.Arg38Leu) c.32G>T (p.Arg11Leu) c.77G>T (p.Arg26Leu) c.74G>T (p.Arg25Leu) c.59-6368G>T (n.59-6368G>T) n.292G>T c.-41G>T (n.-41G>T) n.339G>T | |
21 | g.34887081C= | CA2387297246 | RUNX1 | c.113G= (p.Arg38=) c.32G= (p.Arg11=) c.77G= (p.Arg26=) c.74G= (p.Arg25=) c.59-6368G= (n.59-6368G=) n.292G= c.-41G= (n.-41G=) n.339G= | |
21 | g.34887081C>G | CA410204288 | RUNX1 | c.113G>C (p.Arg38Pro) c.32G>C (p.Arg11Pro) c.77G>C (p.Arg26Pro) c.74G>C (p.Arg25Pro) c.59-6368G>C (n.59-6368G>C) n.292G>C c.-41G>C (n.-41G>C) n.339G>C | dbSNP gnomAD v3 gnomAD v4 |
21 | g.34887081C>T | CA410204289 | RUNX1 | c.113G>A (p.Arg38His) c.32G>A (p.Arg11His) c.77G>A (p.Arg26His) c.74G>A (p.Arg25His) c.59-6368G>A (n.59-6368G>A) n.292G>A c.-41G>A (n.-41G>A) n.339G>A | dbSNP gnomAD v4 |
21 | g.34887082G>A | CA410204294 | RUNX1 | c.112C>T (p.Arg38Cys) c.31C>T (p.Arg11Cys) c.76C>T (p.Arg26Cys) c.73C>T (p.Arg25Cys) c.59-6369C>T (n.59-6369C>T) n.291C>T c.-42C>T (n.-42C>T) n.338C>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34887082G>C | CA410204291 | RUNX1 | c.112C>G (p.Arg38Gly) c.31C>G (p.Arg11Gly) c.76C>G (p.Arg26Gly) c.73C>G (p.Arg25Gly) c.59-6369C>G (n.59-6369C>G) n.291C>G c.-42C>G (n.-42C>G) n.338C>G | gnomAD v4 |
21 | g.34887082G= | CA2387297247 | RUNX1 | c.112C= (p.Arg38=) c.31C= (p.Arg11=) c.76C= (p.Arg26=) c.73C= (p.Arg25=) c.59-6369C= (n.59-6369C=) n.291C= c.-42C= (n.-42C=) n.338C= | |
21 | g.34887082G>T | CA410204293 | RUNX1 | c.112C>A (p.Arg38Ser) c.31C>A (p.Arg11Ser) c.76C>A (p.Arg26Ser) c.73C>A (p.Arg25Ser) c.59-6369C>A (n.59-6369C>A) n.291C>A c.-42C>A (n.-42C>A) n.338C>A | |
21 | g.34887083G>A | CA512318995 | RUNX1 | c.111C>T (p.Ser37=) c.30C>T (p.Ser10=) c.75C>T (p.Ser25=) c.72C>T (p.Ser24=) c.59-6370C>T (n.59-6370C>T) n.290C>T c.-43C>T (n.-43C>T) n.337C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34887083G>C | CA410204295 | RUNX1 | c.111C>G (p.Ser37Arg) c.30C>G (p.Ser10Arg) c.75C>G (p.Ser25Arg) c.72C>G (p.Ser24Arg) c.59-6370C>G (n.59-6370C>G) n.290C>G c.-43C>G (n.-43C>G) n.337C>G | |
21 | g.34887083G= | CA2387297248 | RUNX1 | c.111C= (p.Ser37=) c.30C= (p.Ser10=) c.75C= (p.Ser25=) c.72C= (p.Ser24=) c.59-6370C= (n.59-6370C=) n.290C= c.-43C= (n.-43C=) n.337C= | |
21 | g.34887083G>T | CA410204296 | RUNX1 | c.111C>A (p.Ser37Arg) c.30C>A (p.Ser10Arg) c.75C>A (p.Ser25Arg) c.72C>A (p.Ser24Arg) c.59-6370C>A (n.59-6370C>A) n.290C>A c.-43C>A (n.-43C>A) n.337C>A | |
21 | g.34887084C>A | CA10014591 | RUNX1 | c.110G>T (p.Ser37Ile) c.29G>T (p.Ser10Ile) c.74G>T (p.Ser25Ile) c.71G>T (p.Ser24Ile) c.59-6371G>T (n.59-6371G>T) n.289G>T c.-44G>T (n.-44G>T) n.336G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34887084C= | CA2387297249 | RUNX1 | c.110G= (p.Ser37=) c.29G= (p.Ser10=) c.74G= (p.Ser25=) c.71G= (p.Ser24=) c.59-6371G= (n.59-6371G=) n.289G= c.-44G= (n.-44G=) n.336G= | |
21 | g.34887084C>G | CA410204297 | RUNX1 | c.110G>C (p.Ser37Thr) c.29G>C (p.Ser10Thr) c.74G>C (p.Ser25Thr) c.71G>C (p.Ser24Thr) c.59-6371G>C (n.59-6371G>C) n.289G>C c.-44G>C (n.-44G>C) n.336G>C | dbSNP |
21 | g.34887084C>T | CA410204298 | RUNX1 | c.110G>A (p.Ser37Asn) c.29G>A (p.Ser10Asn) c.74G>A (p.Ser25Asn) c.71G>A (p.Ser24Asn) c.59-6371G>A (n.59-6371G>A) n.289G>A c.-44G>A (n.-44G>A) n.336G>A | |
21 | g.34887085T>A | CA410204299 | RUNX1 | c.109A>T (p.Ser37Cys) c.28A>T (p.Ser10Cys) c.73A>T (p.Ser25Cys) c.70A>T (p.Ser24Cys) c.59-6372A>T (n.59-6372A>T) n.288A>T c.-45A>T (n.-45A>T) n.335A>T | dbSNP |
21 | g.34887085T>C | CA410204301 | RUNX1 | c.109A>G (p.Ser37Gly) c.28A>G (p.Ser10Gly) c.73A>G (p.Ser25Gly) c.70A>G (p.Ser24Gly) c.59-6372A>G (n.59-6372A>G) n.288A>G c.-45A>G (n.-45A>G) n.335A>G | dbSNP gnomAD v4 |
21 | g.34887085T>G | CA410204300 | RUNX1 | c.109A>C (p.Ser37Arg) c.28A>C (p.Ser10Arg) c.73A>C (p.Ser25Arg) c.70A>C (p.Ser24Arg) c.59-6372A>C (n.59-6372A>C) n.288A>C c.-45A>C (n.-45A>C) n.335A>C | |
21 | g.34887086C>A | CA512318996 | RUNX1 | c.108G>T (p.Thr36=) c.27G>T (p.Thr9=) c.72G>T (p.Thr24=) c.69G>T (p.Thr23=) c.59-6373G>T (n.59-6373G>T) n.287G>T c.-46G>T (n.-46G>T) n.334G>T | |
21 | g.34887086C>G | CA512318997 | RUNX1 | c.108G>C (p.Thr36=) c.27G>C (p.Thr9=) c.72G>C (p.Thr24=) c.69G>C (p.Thr23=) c.59-6373G>C (n.59-6373G>C) n.287G>C c.-46G>C (n.-46G>C) n.334G>C | gnomAD v4 |
21 | g.34887086C>T | CA512318998 | RUNX1 | c.108G>A (p.Thr36=) c.27G>A (p.Thr9=) c.72G>A (p.Thr24=) c.69G>A (p.Thr23=) c.59-6373G>A (n.59-6373G>A) n.287G>A c.-46G>A (n.-46G>A) n.334G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34887087G>A | CA410204302 | RUNX1 | c.107C>T (p.Thr36Met) c.26C>T (p.Thr9Met) c.71C>T (p.Thr24Met) c.68C>T (p.Thr23Met) c.59-6374C>T (n.59-6374C>T) n.286C>T c.-47C>T (n.-47C>T) n.333C>T | gnomAD v4 |
21 | g.34887087G>C | CA410204303 | RUNX1 | c.107C>G (p.Thr36Arg) c.26C>G (p.Thr9Arg) c.71C>G (p.Thr24Arg) c.68C>G (p.Thr23Arg) c.59-6374C>G (n.59-6374C>G) n.286C>G c.-47C>G (n.-47C>G) n.333C>G | ClinVar dbSNP gnomAD v4 |
21 | g.34887087G= | CA2387297250 | RUNX1 | c.107C= (p.Thr36=) c.26C= (p.Thr9=) c.71C= (p.Thr24=) c.68C= (p.Thr23=) c.59-6374C= (n.59-6374C=) n.286C= c.-47C= (n.-47C=) n.333C= | |
21 | g.34887087G>T | CA410204304 | RUNX1 | c.107C>A (p.Thr36Lys) c.26C>A (p.Thr9Lys) c.71C>A (p.Thr24Lys) c.68C>A (p.Thr23Lys) c.59-6374C>A (n.59-6374C>A) n.286C>A c.-47C>A (n.-47C>A) n.333C>A | |
21 | g.34887088T>A | CA410204305 | RUNX1 | c.106A>T (p.Thr36Ser) c.25A>T (p.Thr9Ser) c.70A>T (p.Thr24Ser) c.67A>T (p.Thr23Ser) c.59-6375A>T (n.59-6375A>T) n.285A>T c.-48A>T (n.-48A>T) n.332A>T | |
21 | g.34887088T>C | CA410204306 | RUNX1 | c.106A>G (p.Thr36Ala) c.25A>G (p.Thr9Ala) c.70A>G (p.Thr24Ala) c.67A>G (p.Thr23Ala) c.59-6375A>G (n.59-6375A>G) n.285A>G c.-48A>G (n.-48A>G) n.332A>G | dbSNP |
21 | g.34887088T>G | CA410204307 | RUNX1 | c.106A>C (p.Thr36Pro) c.25A>C (p.Thr9Pro) c.70A>C (p.Thr24Pro) c.67A>C (p.Thr23Pro) c.59-6375A>C (n.59-6375A>C) n.285A>C c.-48A>C (n.-48A>C) n.332A>C | |
21 | g.34887088T= | CA2387297251 | RUNX1 | c.106A= (p.Thr36=) c.25A= (p.Thr9=) c.70A= (p.Thr24=) c.67A= (p.Thr23=) c.59-6375A= (n.59-6375A=) n.285A= c.-48A= (n.-48A=) n.332A= | |
21 | g.34887089G>A | CA512318999 | RUNX1 | c.105C>T (p.Ser35=) c.24C>T (p.Ser8=) c.69C>T (p.Ser23=) c.66C>T (p.Ser22=) c.59-6376C>T (n.59-6376C>T) n.284C>T c.-49C>T (n.-49C>T) n.331C>T | ClinVar dbSNP |
21 | g.34887089G>C | CA410204308 | RUNX1 | c.105C>G (p.Ser35Arg) c.24C>G (p.Ser8Arg) c.69C>G (p.Ser23Arg) c.66C>G (p.Ser22Arg) c.59-6376C>G (n.59-6376C>G) n.284C>G c.-49C>G (n.-49C>G) n.331C>G | |
21 | g.34887089G= | CA2387297252 | RUNX1 | c.105C= (p.Ser35=) c.24C= (p.Ser8=) c.69C= (p.Ser23=) c.66C= (p.Ser22=) c.59-6376C= (n.59-6376C=) n.284C= c.-49C= (n.-49C=) n.331C= | |
21 | g.34887089G>T | CA410204309 | RUNX1 | c.105C>A (p.Ser35Arg) c.24C>A (p.Ser8Arg) c.69C>A (p.Ser23Arg) c.66C>A (p.Ser22Arg) c.59-6376C>A (n.59-6376C>A) n.284C>A c.-49C>A (n.-49C>A) n.331C>A | ClinVar dbSNP |
21 | g.34887090C>A | CA410204310 | RUNX1 | c.104G>T (p.Ser35Ile) c.23G>T (p.Ser8Ile) c.68G>T (p.Ser23Ile) c.65G>T (p.Ser22Ile) c.59-6377G>T (n.59-6377G>T) n.283G>T c.-50G>T (n.-50G>T) n.330G>T | |
21 | g.34887090C= | CA2387297253 | RUNX1 | c.104G= (p.Ser35=) c.23G= (p.Ser8=) c.68G= (p.Ser23=) c.65G= (p.Ser22=) c.59-6377G= (n.59-6377G=) n.283G= c.-50G= (n.-50G=) n.330G= | |
21 | g.34887090C>G | CA410204311 | RUNX1 | c.104G>C (p.Ser35Thr) c.23G>C (p.Ser8Thr) c.68G>C (p.Ser23Thr) c.65G>C (p.Ser22Thr) c.59-6377G>C (n.59-6377G>C) n.283G>C c.-50G>C (n.-50G>C) n.330G>C | |
21 | g.34887090C>T | CA410204312 | RUNX1 | c.104G>A (p.Ser35Asn) c.23G>A (p.Ser8Asn) c.68G>A (p.Ser23Asn) c.65G>A (p.Ser22Asn) c.59-6377G>A (n.59-6377G>A) n.283G>A c.-50G>A (n.-50G>A) n.330G>A | ClinVar dbSNP |
21 | g.34887092_34887098dup | CA645607470 | RUNX1 | c.98_104dup c.17_23dup (p.Ser8ArgfsTer?) c.62_68dup c.59_65dup c.59-6383_59-6377dup (n.59-6383_59-6377dup) n.277_283dup c.-56_-50dup n.324_330dup | COSMIC COSMIC |