Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.34876207_34881076del | CA1139533046 | RUNX1 | c.352-363_508+4350del c.271-363_427+4350del c.316-363_472+4350del c.59-363_*98+4350del c.313-363_469+4350del n.531-363_687+4350del c.199-363_355+4350del n.578-363_734+4350del | |
21 | g.34880553_34880609dup | CA658824416 | RUNX1 | c.457_508+5dup c.376_427+5dup c.421_472+5dup c.*47_*98+5dup c.418_469+5dup n.636_687+5dup c.304_355+5dup n.683_734+5dup | ClinVar dbSNP |
21 | g.34880579_34880592del | CA645607348 | RUNX1 | c.475_488del (p.Asn159CysfsTer?) c.394_407del (p.Asn132CysfsTer?) c.439_452del (p.Asn147CysfsTer?) c.*65_*78del (n.*65_*78del) c.436_449del (p.Asn146CysfsTer?) n.654_667del c.322_335del (p.Asn108CysfsTer?) n.701_714del | COSMIC |
21 | g.34880590T>A | CA410202532 | RUNX1 | c.475A>T (p.Asn159Tyr) c.394A>T (p.Asn132Tyr) c.439A>T (p.Asn147Tyr) c.*65A>T (n.*65A>T) c.436A>T (p.Asn146Tyr) n.654A>T c.322A>T (p.Asn108Tyr) n.701A>T | dbSNP |
21 | g.34880590T>C | CA410202533 | RUNX1 | c.475A>G (p.Asn159Asp) c.394A>G (p.Asn132Asp) c.439A>G (p.Asn147Asp) c.*65A>G (n.*65A>G) c.436A>G (p.Asn146Asp) n.654A>G c.322A>G (p.Asn108Asp) n.701A>G | ClinVar dbSNP gnomAD v4 |
21 | g.34880590T>G | CA410202534 | RUNX1 | c.475A>C (p.Asn159His) c.394A>C (p.Asn132His) c.439A>C (p.Asn147His) c.*65A>C (n.*65A>C) c.436A>C (p.Asn146His) n.654A>C c.322A>C (p.Asn108His) n.701A>C | |
21 | g.34880590T= | CA2387294324 | RUNX1 | c.475A= (p.Asn159=) c.394A= (p.Asn132=) c.439A= (p.Asn147=) c.*65A= (n.*65A=) c.436A= (p.Asn146=) n.654A= c.322A= (p.Asn108=) n.701A= | |
21 | g.34880591A>C | CA410202535 | RUNX1 | c.474T>G (p.Phe158Leu) c.393T>G (p.Phe131Leu) c.438T>G (p.Phe146Leu) c.*64T>G (n.*64T>G) c.435T>G (p.Phe145Leu) n.653T>G c.321T>G (p.Phe107Leu) n.700T>G | |
21 | g.34880591A>G | CA512318682 | RUNX1 | c.474T>C (p.Phe158=) c.393T>C (p.Phe131=) c.438T>C (p.Phe146=) c.*64T>C (n.*64T>C) c.435T>C (p.Phe145=) n.653T>C c.321T>C (p.Phe107=) n.700T>C | ClinVar gnomAD v4 |
21 | g.34880591A>T | CA410202536 | RUNX1 | c.474T>A (p.Phe158Leu) c.393T>A (p.Phe131Leu) c.438T>A (p.Phe146Leu) c.*64T>A (n.*64T>A) c.435T>A (p.Phe145Leu) n.653T>A c.321T>A (p.Phe107Leu) n.700T>A | dbSNP |
21 | g.34880593dup | CA645607351 | RUNX1 | c.474dup (p.Asn159Ter) c.393dup (p.Asn132Ter) c.438dup (p.Asn147Ter) c.*64dup (n.*64dup) c.435dup (p.Asn146Ter) n.653dup c.321dup (p.Asn108Ter) n.700dup | COSMIC |
21 | g.34880593del | CA512318681 | RUNX1 | c.474del (p.Phe158LeufsTer18) c.393del (p.Phe131LeufsTer18) c.438del (p.Phe146LeufsTer18) c.*64del (n.*64del) c.435del (p.Phe145LeufsTer18) n.653del c.321del (p.Phe107LeufsTer18) n.700del | COSMIC COSMIC |
21 | g.34880592A>C | CA410202537 | RUNX1 | c.473T>G (p.Phe158Cys) c.392T>G (p.Phe131Cys) c.437T>G (p.Phe146Cys) c.*63T>G (n.*63T>G) c.434T>G (p.Phe145Cys) n.652T>G c.320T>G (p.Phe107Cys) n.699T>G | dbSNP |
21 | g.34880592A>G | CA410202538 | RUNX1 | c.473T>C (p.Phe158Ser) c.392T>C (p.Phe131Ser) c.437T>C (p.Phe146Ser) c.*63T>C (n.*63T>C) c.434T>C (p.Phe145Ser) n.652T>C c.320T>C (p.Phe107Ser) n.699T>C | |
21 | g.34880592A>T | CA410202539 | RUNX1 | c.473T>A (p.Phe158Tyr) c.392T>A (p.Phe131Tyr) c.437T>A (p.Phe146Tyr) c.*63T>A (n.*63T>A) c.434T>A (p.Phe145Tyr) n.652T>A c.320T>A (p.Phe107Tyr) n.699T>A | dbSNP |
21 | g.34880593A>C | CA410202540 | RUNX1 | c.472T>G (p.Phe158Val) c.391T>G (p.Phe131Val) c.436T>G (p.Phe146Val) c.*62T>G (n.*62T>G) c.433T>G (p.Phe145Val) n.651T>G c.319T>G (p.Phe107Val) n.698T>G | COSMIC |
21 | g.34880593A>G | CA410202541 | RUNX1 | c.472T>C (p.Phe158Leu) c.391T>C (p.Phe131Leu) c.436T>C (p.Phe146Leu) c.*62T>C (n.*62T>C) c.433T>C (p.Phe145Leu) n.651T>C c.319T>C (p.Phe107Leu) n.698T>C | |
21 | g.34880593A>T | CA410202542 | RUNX1 | c.472T>A (p.Phe158Ile) c.391T>A (p.Phe131Ile) c.436T>A (p.Phe146Ile) c.*62T>A (n.*62T>A) c.433T>A (p.Phe145Ile) n.651T>A c.319T>A (p.Phe107Ile) n.698T>A | dbSNP COSMIC COSMIC |
21 | g.34880594T>A | CA410202543 | RUNX1 | c.471A>T (p.Arg157Ser) c.390A>T (p.Arg130Ser) c.435A>T (p.Arg145Ser) c.*61A>T (n.*61A>T) c.432A>T (p.Arg144Ser) n.650A>T c.318A>T (p.Arg106Ser) n.697A>T | dbSNP |
21 | g.34880594T>C | CA512318689 | RUNX1 | c.471A>G (p.Arg157=) c.390A>G (p.Arg130=) c.435A>G (p.Arg145=) c.*61A>G (n.*61A>G) c.432A>G (p.Arg144=) n.650A>G c.318A>G (p.Arg106=) n.697A>G | |
21 | g.34880594T>G | CA410202544 | RUNX1 | c.471A>C (p.Arg157Ser) c.390A>C (p.Arg130Ser) c.435A>C (p.Arg145Ser) c.*61A>C (n.*61A>C) c.432A>C (p.Arg144Ser) n.650A>C c.318A>C (p.Arg106Ser) n.697A>C | |
21 | g.34880595C>A | CA410202545 | RUNX1 | c.470G>T (p.Arg157Ile) c.389G>T (p.Arg130Ile) c.434G>T (p.Arg145Ile) c.*60G>T (n.*60G>T) c.431G>T (p.Arg144Ile) n.649G>T c.317G>T (p.Arg106Ile) n.696G>T | |
21 | g.34880595C>G | CA410202546 | RUNX1 | c.470G>C (p.Arg157Thr) c.389G>C (p.Arg130Thr) c.434G>C (p.Arg145Thr) c.*60G>C (n.*60G>C) c.431G>C (p.Arg144Thr) n.649G>C c.317G>C (p.Arg106Thr) n.696G>C | dbSNP |
21 | g.34880595C>T | CA410202547 | RUNX1 | c.470G>A (p.Arg157Lys) c.389G>A (p.Arg130Lys) c.434G>A (p.Arg145Lys) c.*60G>A (n.*60G>A) c.431G>A (p.Arg144Lys) n.649G>A c.317G>A (p.Arg106Lys) n.696G>A | dbSNP |
21 | g.34880596T>A | CA410202548 | RUNX1 | c.469A>T (p.Arg157Ter) c.388A>T (p.Arg130Ter) c.433A>T (p.Arg145Ter) c.*59A>T (n.*59A>T) c.430A>T (p.Arg144Ter) n.648A>T c.316A>T (p.Arg106Ter) n.695A>T | dbSNP |
21 | g.34880596T>C | CA410202549 | RUNX1 | c.469A>G (p.Arg157Gly) c.388A>G (p.Arg130Gly) c.433A>G (p.Arg145Gly) c.*59A>G (n.*59A>G) c.430A>G (p.Arg144Gly) n.648A>G c.316A>G (p.Arg106Gly) n.695A>G | dbSNP |
21 | g.34880596T>G | CA512318691 | RUNX1 | c.469A>C (p.Arg157=) c.388A>C (p.Arg130=) c.433A>C (p.Arg145=) c.*59A>C (n.*59A>C) c.430A>C (p.Arg144=) n.648A>C c.316A>C (p.Arg106=) n.695A>C | |
21 | g.34880596T= | CA2387294325 | RUNX1 | c.469A= (p.Arg157=) c.388A= (p.Arg130=) c.433A= (p.Arg145=) c.*59A= (n.*59A=) c.430A= (p.Arg144=) n.648A= c.316A= (p.Arg106=) n.695A= | |
21 | g.34880597del | CA512318692 | RUNX1 | c.469del (p.Arg157AspfsTer19) c.388del (p.Arg130AspfsTer19) c.433del (p.Arg145AspfsTer19) c.*59del (n.*59del) c.430del (p.Arg144AspfsTer19) n.648del c.316del (p.Arg106AspfsTer19) n.695del | COSMIC |
21 | g.34880596_34880597insA | CA645607352 | RUNX1 | c.468_469insT (p.Arg157Ter) c.387_388insT (p.Arg130Ter) c.432_433insT (p.Arg145Ter) c.*58_*59insT (n.*58_*59insT) c.429_430insT (p.Arg144Ter) n.647_648insT c.315_316insT (p.Arg106Ter) n.694_695insT | COSMIC |
21 | g.34880597T>A | CA512318695 | RUNX1 | c.468A>T (p.Ala156=) c.387A>T (p.Ala129=) c.432A>T (p.Ala144=) c.*58A>T (n.*58A>T) c.429A>T (p.Ala143=) n.647A>T c.315A>T (p.Ala105=) n.694A>T | dbSNP |
21 | g.34880597T>C | CA512318693 | RUNX1 | c.468A>G (p.Ala156=) c.387A>G (p.Ala129=) c.432A>G (p.Ala144=) c.*58A>G (n.*58A>G) c.429A>G (p.Ala143=) n.647A>G c.315A>G (p.Ala105=) n.694A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34880597T>G | CA512318696 | RUNX1 | c.468A>C (p.Ala156=) c.387A>C (p.Ala129=) c.432A>C (p.Ala144=) c.*58A>C (n.*58A>C) c.429A>C (p.Ala143=) n.647A>C c.315A>C (p.Ala105=) n.694A>C | |
21 | g.34880597T= | CA2387294326 | RUNX1 | c.468A= (p.Ala156=) c.387A= (p.Ala129=) c.432A= (p.Ala144=) c.*58A= (n.*58A=) c.429A= (p.Ala143=) n.647A= c.315A= (p.Ala105=) n.694A= | |
21 | g.34880598G>A | CA410202550 | RUNX1 | c.467C>T (p.Ala156Val) c.386C>T (p.Ala129Val) c.431C>T (p.Ala144Val) c.*57C>T (n.*57C>T) c.428C>T (p.Ala143Val) n.646C>T c.314C>T (p.Ala105Val) n.693C>T | dbSNP |
21 | g.34880598G>C | CA410202551 | RUNX1 | c.467C>G (p.Ala156Gly) c.386C>G (p.Ala129Gly) c.431C>G (p.Ala144Gly) c.*57C>G (n.*57C>G) c.428C>G (p.Ala143Gly) n.646C>G c.314C>G (p.Ala105Gly) n.693C>G | dbSNP |
21 | g.34880598G= | CA2387294327 | RUNX1 | c.467C= (p.Ala156=) c.386C= (p.Ala129=) c.431C= (p.Ala144=) c.*57C= (n.*57C=) c.428C= (p.Ala143=) n.646C= c.314C= (p.Ala105=) n.693C= | |
21 | g.34880598G>T | CA248628 | RUNX1 | c.467C>A (p.Ala156Glu) c.386C>A (p.Ala129Glu) c.431C>A (p.Ala144Glu) c.*57C>A (n.*57C>A) c.428C>A (p.Ala143Glu) n.646C>A c.314C>A (p.Ala105Glu) n.693C>A | ClinVar dbSNP |
21 | g.34880598_34880600dup | CA2825002848 | RUNX1 | c.465_467dup (p.Ala156_Arg157insAla) c.384_386dup (p.Ala129_Arg130insAla) c.429_431dup (p.Ala144_Arg145insAla) c.*55_*57dup (n.*55_*57dup) c.426_428dup (p.Ala143_Arg144insAla) n.644_646dup c.312_314dup (p.Ala105_Arg106insAla) n.691_693dup | ClinVar |
21 | g.34880599C>A | CA410202552 | RUNX1 | c.466G>T (p.Ala156Ser) c.385G>T (p.Ala129Ser) c.430G>T (p.Ala144Ser) c.*56G>T (n.*56G>T) c.427G>T (p.Ala143Ser) n.645G>T c.313G>T (p.Ala105Ser) n.692G>T | dbSNP |
21 | g.34880599C>G | CA410202553 | RUNX1 | c.466G>C (p.Ala156Pro) c.385G>C (p.Ala129Pro) c.430G>C (p.Ala144Pro) c.*56G>C (n.*56G>C) c.427G>C (p.Ala143Pro) n.645G>C c.313G>C (p.Ala105Pro) n.692G>C | dbSNP |
21 | g.34880599C>T | CA410202554 | RUNX1 | c.466G>A (p.Ala156Thr) c.385G>A (p.Ala129Thr) c.430G>A (p.Ala144Thr) c.*56G>A (n.*56G>A) c.427G>A (p.Ala143Thr) n.645G>A c.313G>A (p.Ala105Thr) n.692G>A | ClinVar dbSNP |
21 | g.34880600A>C | CA512318700 | RUNX1 | c.465T>G (p.Val155=) c.384T>G (p.Val128=) c.429T>G (p.Val143=) c.*55T>G (n.*55T>G) c.426T>G (p.Val142=) n.644T>G c.312T>G (p.Val104=) n.691T>G | ClinVar dbSNP |
21 | g.34880600A>G | CA512318699 | RUNX1 | c.465T>C (p.Val155=) c.384T>C (p.Val128=) c.429T>C (p.Val143=) c.*55T>C (n.*55T>C) c.426T>C (p.Val142=) n.644T>C c.312T>C (p.Val104=) n.691T>C | |
21 | g.34880600A>T | CA512318698 | RUNX1 | c.465T>A (p.Val155=) c.384T>A (p.Val128=) c.429T>A (p.Val143=) c.*55T>A (n.*55T>A) c.426T>A (p.Val142=) n.644T>A c.312T>A (p.Val104=) n.691T>A | dbSNP |
21 | g.34880601A= | CA2387294328 | RUNX1 | c.464T= (p.Val155=) c.383T= (p.Val128=) c.428T= (p.Val143=) c.*54T= (n.*54T=) c.425T= (p.Val142=) n.643T= c.311T= (p.Val104=) n.690T= | |
21 | g.34880601A>C | CA410202555 | RUNX1 | c.464T>G (p.Val155Gly) c.383T>G (p.Val128Gly) c.428T>G (p.Val143Gly) c.*54T>G (n.*54T>G) c.425T>G (p.Val142Gly) n.643T>G c.311T>G (p.Val104Gly) n.690T>G | dbSNP |
21 | g.34880601A>G | CA10014507 | RUNX1 | c.464T>C (p.Val155Ala) c.383T>C (p.Val128Ala) c.428T>C (p.Val143Ala) c.*54T>C (n.*54T>C) c.425T>C (p.Val142Ala) n.643T>C c.311T>C (p.Val104Ala) n.690T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34880601A>T | CA410202556 | RUNX1 | c.464T>A (p.Val155Asp) c.383T>A (p.Val128Asp) c.428T>A (p.Val143Asp) c.*54T>A (n.*54T>A) c.425T>A (p.Val142Asp) n.643T>A c.311T>A (p.Val104Asp) n.690T>A | dbSNP |
21 | g.34880655_34880656insATTCTACCTGGTTCTTCATGGCTGCGGTAGCATTTCTCAGCTCAGCCGAGTAGTTTTCAT | CA645607353 | RUNX1 | c.464_465insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val155_Ala156insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) c.383_384insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val128_Ala129insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) c.428_429insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val143_Ala144insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) c.*54_*55insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (n.*54_*55insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT) c.425_426insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val142_Ala143insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) n.643_644insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT c.311_312insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT (p.Val104_Ala105insGluTyrGluAsnTyrSerAlaGluLeuArgAsnAlaThrAlaAlaMetLysAsnGlnVal) n.690_691insAGAATATGAAAACTACTCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGT | COSMIC |
21 | g.34880602C>A | CA410202558 | RUNX1 | c.463G>T (p.Val155Phe) c.382G>T (p.Val128Phe) c.427G>T (p.Val143Phe) c.*53G>T (n.*53G>T) c.424G>T (p.Val142Phe) n.642G>T c.310G>T (p.Val104Phe) n.689G>T | dbSNP |
21 | g.34880602C= | CA2387294329 | RUNX1 | c.463G= (p.Val155=) c.382G= (p.Val128=) c.427G= (p.Val143=) c.*53G= (n.*53G=) c.424G= (p.Val142=) n.642G= c.310G= (p.Val104=) n.689G= | |
21 | g.34880602C>G | CA10014508 | RUNX1 | c.463G>C (p.Val155Leu) c.382G>C (p.Val128Leu) c.427G>C (p.Val143Leu) c.*53G>C (n.*53G>C) c.424G>C (p.Val142Leu) n.642G>C c.310G>C (p.Val104Leu) n.689G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34880602C>T | CA410202557 | RUNX1 | c.463G>A (p.Val155Ile) c.382G>A (p.Val128Ile) c.427G>A (p.Val143Ile) c.*53G>A (n.*53G>A) c.424G>A (p.Val142Ile) n.642G>A c.310G>A (p.Val104Ile) n.689G>A | ClinVar dbSNP |
21 | g.34880603C>A | CA410202559 | RUNX1 | c.462G>T (p.Gln154His) c.381G>T (p.Gln127His) c.426G>T (p.Gln142His) c.*52G>T (n.*52G>T) c.423G>T (p.Gln141His) n.641G>T c.309G>T (p.Gln103His) n.688G>T | |
21 | g.34880603C= | CA2387294330 | RUNX1 | c.462G= (p.Gln154=) c.381G= (p.Gln127=) c.426G= (p.Gln142=) c.*52G= (n.*52G=) c.423G= (p.Gln141=) n.641G= c.309G= (p.Gln103=) n.688G= | |
21 | g.34880603C>G | CA10014509 | RUNX1 | c.462G>C (p.Gln154His) c.381G>C (p.Gln127His) c.426G>C (p.Gln142His) c.*52G>C (n.*52G>C) c.423G>C (p.Gln141His) n.641G>C c.309G>C (p.Gln103His) n.688G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34880603C>T | CA512318702 | RUNX1 | c.462G>A (p.Gln154=) c.381G>A (p.Gln127=) c.426G>A (p.Gln142=) c.*52G>A (n.*52G>A) c.423G>A (p.Gln141=) n.641G>A c.309G>A (p.Gln103=) n.688G>A | dbSNP gnomAD v4 |
21 | g.34880604T>A | CA410202560 | RUNX1 | c.461A>T (p.Gln154Leu) c.380A>T (p.Gln127Leu) c.425A>T (p.Gln142Leu) c.*51A>T (n.*51A>T) c.422A>T (p.Gln141Leu) n.640A>T c.308A>T (p.Gln103Leu) n.687A>T | |
21 | g.34880604T>C | CA10014510 | RUNX1 | c.461A>G (p.Gln154Arg) c.380A>G (p.Gln127Arg) c.425A>G (p.Gln142Arg) c.*51A>G (n.*51A>G) c.422A>G (p.Gln141Arg) n.640A>G c.308A>G (p.Gln103Arg) n.687A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34880604T>G | CA410202561 | RUNX1 | c.461A>C (p.Gln154Pro) c.380A>C (p.Gln127Pro) c.425A>C (p.Gln142Pro) c.*51A>C (n.*51A>C) c.422A>C (p.Gln141Pro) n.640A>C c.308A>C (p.Gln103Pro) n.687A>C | |
21 | g.34880604T= | CA2387294331 | RUNX1 | c.461A= (p.Gln154=) c.380A= (p.Gln127=) c.425A= (p.Gln142=) c.*51A= (n.*51A=) c.422A= (p.Gln141=) n.640A= c.308A= (p.Gln103=) n.687A= | |
21 | g.34880605G>A | CA410202562 | RUNX1 | c.460C>T (p.Gln154Ter) c.379C>T (p.Gln127Ter) c.424C>T (p.Gln142Ter) c.*50C>T (n.*50C>T) c.421C>T (p.Gln141Ter) n.639C>T c.307C>T (p.Gln103Ter) n.686C>T | dbSNP COSMIC |
21 | g.34880605G>C | CA410202564 | RUNX1 | c.460C>G (p.Gln154Glu) c.379C>G (p.Gln127Glu) c.424C>G (p.Gln142Glu) c.*50C>G (n.*50C>G) c.421C>G (p.Gln141Glu) n.639C>G c.307C>G (p.Gln103Glu) n.686C>G | dbSNP |
21 | g.34880605G>T | CA410202563 | RUNX1 | c.460C>A (p.Gln154Lys) c.379C>A (p.Gln127Lys) c.424C>A (p.Gln142Lys) c.*50C>A (n.*50C>A) c.421C>A (p.Gln141Lys) n.639C>A c.307C>A (p.Gln103Lys) n.686C>A | dbSNP |
21 | g.34880606dup | CA645607354 | RUNX1 | c.460dup (p.Gln154ProfsTer6) c.379dup (p.Gln127ProfsTer6) c.424dup (p.Gln142ProfsTer6) c.*50dup (n.*50dup) c.421dup (p.Gln141ProfsTer6) n.639dup c.307dup (p.Gln103ProfsTer6) n.686dup | COSMIC |
21 | g.34880606del | CA913189261 | RUNX1 | c.460del (p.Gln154ArgfsTer22) c.379del (p.Gln127ArgfsTer22) c.424del (p.Gln142ArgfsTer22) c.*50del (n.*50del) c.421del (p.Gln141ArgfsTer22) n.639del c.307del (p.Gln103ArgfsTer22) n.686del | |
21 | g.34880606G>A | CA512318704 | RUNX1 | c.459C>T (p.Asn153=) c.378C>T (p.Asn126=) c.423C>T (p.Asn141=) c.420C>T (p.Asn140=) c.*49C>T (n.*49C>T) n.638C>T c.306C>T (p.Asn102=) n.685C>T | dbSNP |
21 | g.34880606G>C | CA410202565 | RUNX1 | c.459C>G (p.Asn153Lys) c.378C>G (p.Asn126Lys) c.423C>G (p.Asn141Lys) c.420C>G (p.Asn140Lys) c.*49C>G (n.*49C>G) n.638C>G c.306C>G (p.Asn102Lys) n.685C>G | dbSNP |
21 | g.34880606G>T | CA410202566 | RUNX1 | c.459C>A (p.Asn153Lys) c.378C>A (p.Asn126Lys) c.423C>A (p.Asn141Lys) c.420C>A (p.Asn140Lys) c.*49C>A (n.*49C>A) n.638C>A c.306C>A (p.Asn102Lys) n.685C>A | dbSNP |
21 | g.34880607T>A | CA410202567 | RUNX1 | c.458A>T (p.Asn153Ile) c.377A>T (p.Asn126Ile) c.422A>T (p.Asn141Ile) c.419A>T (p.Asn140Ile) c.*48A>T (n.*48A>T) n.637A>T c.305A>T (p.Asn102Ile) n.684A>T | |
21 | g.34880607T>C | CA320637867 | RUNX1 | c.458A>G (p.Asn153Ser) c.377A>G (p.Asn126Ser) c.422A>G (p.Asn141Ser) c.419A>G (p.Asn140Ser) c.*48A>G (n.*48A>G) n.637A>G c.305A>G (p.Asn102Ser) n.684A>G | dbSNP |
21 | g.34880607T>G | CA410202568 | RUNX1 | c.458A>C (p.Asn153Thr) c.377A>C (p.Asn126Thr) c.422A>C (p.Asn141Thr) c.419A>C (p.Asn140Thr) c.*48A>C (n.*48A>C) n.637A>C c.305A>C (p.Asn102Thr) n.684A>C | gnomAD v4 |
21 | g.34880607T= | CA2387294332 | RUNX1 | c.458A= (p.Asn153=) c.377A= (p.Asn126=) c.422A= (p.Asn141=) c.419A= (p.Asn140=) c.*48A= (n.*48A=) n.637A= c.305A= (p.Asn102=) n.684A= | |
21 | g.34880608dup | CA1139655015 | RUNX1 | c.458dup (p.Asn153LysfsTer7) c.377dup (p.Asn126LysfsTer7) c.422dup (p.Asn141LysfsTer7) c.419dup (p.Asn140LysfsTer?) c.*48dup (n.*48dup) c.419dup (p.Asn140LysfsTer7) n.637dup c.305dup (p.Asn102LysfsTer7) n.684dup | |
21 | g.34880608del | CA2739267617 | RUNX1 | c.458del (p.Asn153ThrfsTer23) c.377del (p.Asn126ThrfsTer23) c.422del (p.Asn141ThrfsTer23) c.419del (p.Asn140=) c.*48del (n.*48del) c.419del (p.Asn140ThrfsTer23) n.637del c.305del (p.Asn102ThrfsTer23) n.684del | ClinVar |
21 | g.34880608_34880611dup | CA2695202354 | RUNX1 | c.455_458dup (p.Asn153LysfsTer8) c.374_377dup (p.Asn126LysfsTer8) c.419_422dup (p.Asn141LysfsTer8) c.416_419dup (p.Asn140LysfsTer?) c.*45_*48dup (n.*45_*48dup) c.416_419dup (p.Asn140LysfsTer8) n.634_637dup c.302_305dup (p.Asn102LysfsTer8) n.681_684dup | |
21 | g.34880608T>A | CA410202569 | RUNX1 | c.457A>T (p.Asn153Tyr) c.376A>T (p.Asn126Tyr) c.421A>T (p.Asn141Tyr) c.418A>T (p.Asn140Tyr) c.*47A>T (n.*47A>T) n.636A>T c.304A>T (p.Asn102Tyr) n.683A>T | |
21 | g.34880608T>C | CA410202570 | RUNX1 | c.457A>G (p.Asn153Asp) c.376A>G (p.Asn126Asp) c.421A>G (p.Asn141Asp) c.418A>G (p.Asn140Asp) c.*47A>G (n.*47A>G) n.636A>G c.304A>G (p.Asn102Asp) n.683A>G | dbSNP |
21 | g.34880608T>G | CA410202571 | RUNX1 | c.457A>C (p.Asn153His) c.376A>C (p.Asn126His) c.421A>C (p.Asn141His) c.418A>C (p.Asn140His) c.*47A>C (n.*47A>C) n.636A>C c.304A>C (p.Asn102His) n.683A>C | |
21 | g.34880609_34880610dup | CA891842369 | RUNX1 | c.456_457dup (p.Asn153ArgfsTer24) c.375_376dup (p.Asn126ArgfsTer24) c.420_421dup (p.Asn141ArgfsTer24) c.417_418dup (p.Asn140ArgfsTer?) c.*46_*47dup (n.*46_*47dup) c.417_418dup (p.Asn140ArgfsTer24) n.635_636dup c.303_304dup (p.Asn102ArgfsTer24) n.682_683dup | |
21 | g.34880609del | CA645607355 | RUNX1 | c.456del (p.Asn153ThrfsTer23) c.375del (p.Asn126ThrfsTer23) c.420del (p.Asn141ThrfsTer23) c.417del (p.Lys139=) c.*46del (n.*46del) c.417del (p.Asn140ThrfsTer23) n.635del c.303del (p.Asn102ThrfsTer23) n.682del | COSMIC COSMIC |
21 | g.34880609C>A | CA410202572 | RUNX1 | c.456G>T (p.Lys152Asn) c.375G>T (p.Lys125Asn) c.420G>T (p.Lys140Asn) c.417G>T (p.Lys139Asn) c.*46G>T (n.*46G>T) n.635G>T c.303G>T (p.Lys101Asn) n.682G>T | dbSNP |
21 | g.34880609C>G | CA410202573 | RUNX1 | c.456G>C (p.Lys152Asn) c.375G>C (p.Lys125Asn) c.420G>C (p.Lys140Asn) c.417G>C (p.Lys139Asn) c.*46G>C (n.*46G>C) n.635G>C c.303G>C (p.Lys101Asn) n.682G>C | dbSNP |
21 | g.34880609C>T | CA512318707 | RUNX1 | c.456G>A (p.Lys152=) c.375G>A (p.Lys125=) c.420G>A (p.Lys140=) c.417G>A (p.Lys139=) c.*46G>A (n.*46G>A) n.635G>A c.303G>A (p.Lys101=) n.682G>A | dbSNP |
21 | g.34880610T>A | CA410202574 | RUNX1 | c.455A>T (p.Lys152Met) c.374A>T (p.Lys125Met) c.419A>T (p.Lys140Met) c.416A>T (p.Lys139Met) c.*45A>T (n.*45A>T) n.634A>T c.302A>T (p.Lys101Met) n.681A>T | dbSNP |
21 | g.34880610T>C | CA320637875 | RUNX1 | c.455A>G (p.Lys152Arg) c.374A>G (p.Lys125Arg) c.419A>G (p.Lys140Arg) c.416A>G (p.Lys139Arg) c.*45A>G (n.*45A>G) n.634A>G c.302A>G (p.Lys101Arg) n.681A>G | ClinVar dbSNP |
21 | g.34880610T>G | CA410202575 | RUNX1 | c.455A>C (p.Lys152Thr) c.374A>C (p.Lys125Thr) c.419A>C (p.Lys140Thr) c.416A>C (p.Lys139Thr) c.*45A>C (n.*45A>C) n.634A>C c.302A>C (p.Lys101Thr) n.681A>C | |
21 | g.34880610T= | CA2387294333 | RUNX1 | c.455A= (p.Lys152=) c.374A= (p.Lys125=) c.419A= (p.Lys140=) c.416A= (p.Lys139=) c.*45A= (n.*45A=) n.634A= c.302A= (p.Lys101=) n.681A= | |
21 | g.34880611dup | CA1139532968 | RUNX1 | c.455dup (p.Asn153GlufsTer7) c.374dup (p.Asn126GlufsTer7) c.419dup (p.Asn141GlufsTer7) c.416dup (p.Asn140GlufsTer?) c.*45dup (n.*45dup) c.416dup (p.Asn140GlufsTer7) n.634dup c.302dup (p.Asn102GlufsTer7) n.681dup | |
21 | g.34880611del | CA512318709 | RUNX1 | c.455del (p.Lys152ArgfsTer24) c.374del (p.Lys125ArgfsTer24) c.419del (p.Lys140ArgfsTer24) c.416del (p.Lys139ArgfsTer?) c.*45del (n.*45del) c.416del (p.Lys139ArgfsTer24) n.634del c.302del (p.Lys101ArgfsTer24) n.681del | COSMIC |
21 | g.34880611T>A | CA410202576 | RUNX1 | c.454A>T (p.Lys152Ter) c.373A>T (p.Lys125Ter) c.418A>T (p.Lys140Ter) c.415A>T (p.Lys139Ter) c.*44A>T (n.*44A>T) n.633A>T c.301A>T (p.Lys101Ter) n.680A>T | |
21 | g.34880611T>C | CA410202577 | RUNX1 | c.454A>G (p.Lys152Glu) c.373A>G (p.Lys125Glu) c.418A>G (p.Lys140Glu) c.415A>G (p.Lys139Glu) c.*44A>G (n.*44A>G) n.633A>G c.301A>G (p.Lys101Glu) n.680A>G | COSMIC COSMIC |
21 | g.34880611T>G | CA410202578 | RUNX1 | c.454A>C (p.Lys152Gln) c.373A>C (p.Lys125Gln) c.418A>C (p.Lys140Gln) c.415A>C (p.Lys139Gln) c.*44A>C (n.*44A>C) n.633A>C c.301A>C (p.Lys101Gln) n.680A>C | ClinVar |
21 | g.34880612C>A | CA10014511 | RUNX1 | c.453G>T (p.Met151Ile) c.372G>T (p.Met124Ile) c.417G>T (p.Met139Ile) c.414G>T (p.Met138Ile) c.*43G>T (n.*43G>T) n.632G>T c.300G>T (p.Met100Ile) n.679G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34880612C= | CA2387294334 | RUNX1 | c.453G= (p.Met151=) c.372G= (p.Met124=) c.417G= (p.Met139=) c.414G= (p.Met138=) c.*43G= (n.*43G=) n.632G= c.300G= (p.Met100=) n.679G= | |
21 | g.34880612C>G | CA410202579 | RUNX1 | c.453G>C (p.Met151Ile) c.372G>C (p.Met124Ile) c.417G>C (p.Met139Ile) c.414G>C (p.Met138Ile) c.*43G>C (n.*43G>C) n.632G>C c.300G>C (p.Met100Ile) n.679G>C | dbSNP |
21 | g.34880612C>T | CA410202580 | RUNX1 | c.453G>A (p.Met151Ile) c.372G>A (p.Met124Ile) c.417G>A (p.Met139Ile) c.414G>A (p.Met138Ile) c.*43G>A (n.*43G>A) n.632G>A c.300G>A (p.Met100Ile) n.679G>A | dbSNP |
21 | g.34880613A>C | CA410202581 | RUNX1 | c.452T>G (p.Met151Arg) c.371T>G (p.Met124Arg) c.416T>G (p.Met139Arg) c.413T>G (p.Met138Arg) c.*42T>G (n.*42T>G) n.631T>G c.299T>G (p.Met100Arg) n.678T>G | COSMIC |
21 | g.34880613A>G | CA410202582 | RUNX1 | c.452T>C (p.Met151Thr) c.371T>C (p.Met124Thr) c.416T>C (p.Met139Thr) c.413T>C (p.Met138Thr) c.*42T>C (n.*42T>C) n.631T>C c.299T>C (p.Met100Thr) n.678T>C | dbSNP |
21 | g.34880613A>T | CA410202583 | RUNX1 | c.452T>A (p.Met151Lys) c.371T>A (p.Met124Lys) c.416T>A (p.Met139Lys) c.413T>A (p.Met138Lys) c.*42T>A (n.*42T>A) n.631T>A c.299T>A (p.Met100Lys) n.678T>A | dbSNP |
21 | g.34880614T>A | CA410202584 | RUNX1 | c.451A>T (p.Met151Leu) c.370A>T (p.Met124Leu) c.415A>T (p.Met139Leu) c.412A>T (p.Met138Leu) c.*41A>T (n.*41A>T) n.630A>T c.298A>T (p.Met100Leu) n.677A>T | ClinVar |
21 | g.34880614T>C | CA10014512 | RUNX1 | c.451A>G (p.Met151Val) c.370A>G (p.Met124Val) c.415A>G (p.Met139Val) c.412A>G (p.Met138Val) c.*41A>G (n.*41A>G) n.630A>G c.298A>G (p.Met100Val) n.677A>G | ClinVar dbSNP ExAC gnomAD v2 |
21 | g.34880614T>G | CA410202585 | RUNX1 | c.451A>C (p.Met151Leu) c.370A>C (p.Met124Leu) c.415A>C (p.Met139Leu) c.412A>C (p.Met138Leu) c.*41A>C (n.*41A>C) n.630A>C c.298A>C (p.Met100Leu) n.677A>C | |
21 | g.34880614T= | CA2387294335 | RUNX1 | c.451A= (p.Met151=) c.370A= (p.Met124=) c.415A= (p.Met139=) c.412A= (p.Met138=) c.*41A= (n.*41A=) n.630A= c.298A= (p.Met100=) n.677A= | |
21 | g.34880615G>A | CA512318714 | RUNX1 | c.450C>T (p.Ala150=) c.369C>T (p.Ala123=) c.414C>T (p.Ala138=) c.411C>T (p.Ala137=) c.*40C>T (n.*40C>T) n.629C>T c.297C>T (p.Ala99=) n.676C>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34880615G>C | CA512318716 | RUNX1 | c.450C>G (p.Ala150=) c.369C>G (p.Ala123=) c.414C>G (p.Ala138=) c.411C>G (p.Ala137=) c.*40C>G (n.*40C>G) n.629C>G c.297C>G (p.Ala99=) n.676C>G | dbSNP |
21 | g.34880615G= | CA2387294337 | RUNX1 | c.450C= (p.Ala150=) c.369C= (p.Ala123=) c.414C= (p.Ala138=) c.411C= (p.Ala137=) c.*40C= (n.*40C=) n.629C= c.297C= (p.Ala99=) n.676C= | |
21 | g.34880615G>T | CA512318712 | RUNX1 | c.450C>A (p.Ala150=) c.369C>A (p.Ala123=) c.414C>A (p.Ala138=) c.411C>A (p.Ala137=) c.*40C>A (n.*40C>A) n.629C>A c.297C>A (p.Ala99=) n.676C>A | dbSNP |
21 | g.34880616del | CA512318715 | RUNX1 | c.450del (p.Met151Ter) c.369del (p.Met124Ter) c.414del (p.Met139Ter) c.411del (p.Met138Ter) c.*40del (n.*40del) n.629del c.297del (p.Met100Ter) n.676del | COSMIC |
21 | g.34880615_34880623delinsGGCTGCGGT | CA2387294336 | RUNX1 | c.442_450delinsACCGCAGCC (p.Thr148=) c.361_369delinsACCGCAGCC (p.Thr121=) c.406_414delinsACCGCAGCC (p.Thr136=) c.403_411delinsACCGCAGCC (p.Thr135=) c.*32_*40delinsACCGCAGCC (n.*32_*40delinsACCGCAGCC) n.621_629delinsACCGCAGCC c.289_297delinsACCGCAGCC (p.Thr97=) n.668_676delinsACCGCAGCC | |
21 | g.34880616G>A | CA410202588 | RUNX1 | c.449C>T (p.Ala150Val) c.368C>T (p.Ala123Val) c.413C>T (p.Ala138Val) c.410C>T (p.Ala137Val) c.*39C>T (n.*39C>T) n.628C>T c.296C>T (p.Ala99Val) n.675C>T | dbSNP |
21 | g.34880616G>C | CA410202587 | RUNX1 | c.449C>G (p.Ala150Gly) c.368C>G (p.Ala123Gly) c.413C>G (p.Ala138Gly) c.410C>G (p.Ala137Gly) c.*39C>G (n.*39C>G) n.628C>G c.296C>G (p.Ala99Gly) n.675C>G | dbSNP |
21 | g.34880616G>T | CA410202586 | RUNX1 | c.449C>A (p.Ala150Asp) c.368C>A (p.Ala123Asp) c.413C>A (p.Ala138Asp) c.410C>A (p.Ala137Asp) c.*39C>A (n.*39C>A) n.628C>A c.296C>A (p.Ala99Asp) n.675C>A | ClinVar dbSNP |
21 | g.34880616_34880623del | CA248627 | RUNX1 | c.442_449del (p.Thr148HisfsTer9) c.361_368del (p.Thr121HisfsTer9) c.406_413del (p.Thr136HisfsTer9) c.403_410del (p.Thr135HisfsTer?) c.*32_*39del (n.*32_*39del) c.403_410del (p.Thr135HisfsTer9) n.621_628del c.289_296del (p.Thr97HisfsTer9) n.668_675del | ClinVar dbSNP |
21 | g.34880618_34880626del | CA2695202536 | RUNX1 | c.441_449del (p.Thr148_Ala150del) c.360_368del (p.Thr121_Ala123del) c.405_413del (p.Thr136_Ala138del) c.402_410del (p.Thr135_Ala137del) c.*31_*39del (n.*31_*39del) n.620_628del c.288_296del (p.Thr97_Ala99del) n.667_675del | |
21 | g.34880617C>A | CA410202589 | RUNX1 | c.448G>T (p.Ala150Ser) c.367G>T (p.Ala123Ser) c.412G>T (p.Ala138Ser) c.409G>T (p.Ala137Ser) c.*38G>T (n.*38G>T) n.627G>T c.295G>T (p.Ala99Ser) n.674G>T | dbSNP |
21 | g.34880617C>G | CA410202590 | RUNX1 | c.448G>C (p.Ala150Pro) c.367G>C (p.Ala123Pro) c.412G>C (p.Ala138Pro) c.409G>C (p.Ala137Pro) c.*38G>C (n.*38G>C) n.627G>C c.295G>C (p.Ala99Pro) n.674G>C | dbSNP gnomAD v4 |
21 | g.34880617C>T | CA410202591 | RUNX1 | c.448G>A (p.Ala150Thr) c.367G>A (p.Ala123Thr) c.412G>A (p.Ala138Thr) c.409G>A (p.Ala137Thr) c.*38G>A (n.*38G>A) n.627G>A c.295G>A (p.Ala99Thr) n.674G>A | dbSNP |
21 | g.34880618T>A | CA512318722 | RUNX1 | c.447A>T (p.Ala149=) c.366A>T (p.Ala122=) c.411A>T (p.Ala137=) c.408A>T (p.Ala136=) c.*37A>T (n.*37A>T) n.626A>T c.294A>T (p.Ala98=) n.673A>T | |
21 | g.34880618T>C | CA512318721 | RUNX1 | c.447A>G (p.Ala149=) c.366A>G (p.Ala122=) c.411A>G (p.Ala137=) c.408A>G (p.Ala136=) c.*37A>G (n.*37A>G) n.626A>G c.294A>G (p.Ala98=) n.673A>G | dbSNP gnomAD v4 COSMIC |
21 | g.34880618T>G | CA512318720 | RUNX1 | c.447A>C (p.Ala149=) c.366A>C (p.Ala122=) c.411A>C (p.Ala137=) c.408A>C (p.Ala136=) c.*37A>C (n.*37A>C) n.626A>C c.294A>C (p.Ala98=) n.673A>C | ClinVar dbSNP |
21 | g.34880618T= | CA2387294338 | RUNX1 | c.447A= (p.Ala149=) c.366A= (p.Ala122=) c.411A= (p.Ala137=) c.408A= (p.Ala136=) c.*37A= (n.*37A=) n.626A= c.294A= (p.Ala98=) n.673A= | |
21 | g.34880618_34880619insCGGTAGCATTTCTCAGCTCAGC | CA645607357 | RUNX1 | c.446_447insGCTGAGCTGAGAAATGCTACCG (p.Ala150LeufsTer3) c.365_366insGCTGAGCTGAGAAATGCTACCG (p.Ala123LeufsTer3) c.410_411insGCTGAGCTGAGAAATGCTACCG (p.Ala138LeufsTer3) c.407_408insGCTGAGCTGAGAAATGCTACCG (p.Ala137LeufsTer3) c.*36_*37insGCTGAGCTGAGAAATGCTACCG (n.*36_*37insGCTGAGCTGAGAAATGCTACCG) n.625_626insGCTGAGCTGAGAAATGCTACCG c.293_294insGCTGAGCTGAGAAATGCTACCG (p.Ala99LeufsTer3) n.672_673insGCTGAGCTGAGAAATGCTACCG | COSMIC |
21 | g.34880619G>A | CA410202592 | RUNX1 | c.446C>T (p.Ala149Val) c.365C>T (p.Ala122Val) c.410C>T (p.Ala137Val) c.407C>T (p.Ala136Val) c.*36C>T (n.*36C>T) n.625C>T c.293C>T (p.Ala98Val) n.672C>T | |
21 | g.34880619G>C | CA410202593 | RUNX1 | c.446C>G (p.Ala149Gly) c.365C>G (p.Ala122Gly) c.410C>G (p.Ala137Gly) c.407C>G (p.Ala136Gly) c.*36C>G (n.*36C>G) n.625C>G c.293C>G (p.Ala98Gly) n.672C>G | dbSNP |
21 | g.34880619G>T | CA410202594 | RUNX1 | c.446C>A (p.Ala149Glu) c.365C>A (p.Ala122Glu) c.410C>A (p.Ala137Glu) c.407C>A (p.Ala136Glu) c.*36C>A (n.*36C>A) n.625C>A c.293C>A (p.Ala98Glu) n.672C>A | |
21 | g.34880621_34880626dup | CA645607356 | RUNX1 | c.441_446dup (p.Ala149_Ala150insThrAla) c.360_365dup (p.Ala122_Ala123insThrAla) c.405_410dup (p.Ala137_Ala138insThrAla) c.402_407dup (p.Ala136_Ala137insThrAla) c.*31_*36dup (n.*31_*36dup) n.620_625dup c.288_293dup (p.Ala98_Ala99insThrAla) n.667_672dup | COSMIC |
21 | g.34880620C>A | CA410202595 | RUNX1 | c.445G>T (p.Ala149Ser) c.364G>T (p.Ala122Ser) c.409G>T (p.Ala137Ser) c.406G>T (p.Ala136Ser) c.*35G>T (n.*35G>T) n.624G>T c.292G>T (p.Ala98Ser) n.671G>T | dbSNP |
21 | g.34880620C= | CA2387294339 | RUNX1 | c.445G= (p.Ala149=) c.364G= (p.Ala122=) c.409G= (p.Ala137=) c.406G= (p.Ala136=) c.*35G= (n.*35G=) n.624G= c.292G= (p.Ala98=) n.671G= | |
21 | g.34880620C>G | CA410202596 | RUNX1 | c.445G>C (p.Ala149Pro) c.364G>C (p.Ala122Pro) c.409G>C (p.Ala137Pro) c.406G>C (p.Ala136Pro) c.*35G>C (n.*35G>C) n.624G>C c.292G>C (p.Ala98Pro) n.671G>C | dbSNP gnomAD v2 |
21 | g.34880620C>T | CA10014513 | RUNX1 | c.445G>A (p.Ala149Thr) c.364G>A (p.Ala122Thr) c.409G>A (p.Ala137Thr) c.406G>A (p.Ala136Thr) c.*35G>A (n.*35G>A) n.624G>A c.292G>A (p.Ala98Thr) n.671G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
21 | g.34880629_34880630insCTTCAGCTCAGCCGGTAGCATT | CA645607359 | RUNX1 | c.445_446insGCTGAGCTGAAGAATGCTACCG (p.Ala149GlyfsTer2) c.364_365insGCTGAGCTGAAGAATGCTACCG (p.Ala122GlyfsTer2) c.409_410insGCTGAGCTGAAGAATGCTACCG (p.Ala137GlyfsTer2) c.406_407insGCTGAGCTGAAGAATGCTACCG (p.Ala136GlyfsTer2) c.*35_*36insGCTGAGCTGAAGAATGCTACCG (n.*35_*36insGCTGAGCTGAAGAATGCTACCG) n.624_625insGCTGAGCTGAAGAATGCTACCG c.292_293insGCTGAGCTGAAGAATGCTACCG (p.Ala98GlyfsTer2) n.671_672insGCTGAGCTGAAGAATGCTACCG | COSMIC |
21 | g.34880622_34880643dup | CA645607358 | RUNX1 | c.424_445dup (p.Ala149GlyfsTer2) c.343_364dup (p.Ala122GlyfsTer2) c.388_409dup (p.Ala137GlyfsTer2) c.385_406dup (p.Ala136GlyfsTer2) c.*14_*35dup (n.*14_*35dup) n.603_624dup c.271_292dup (p.Ala98GlyfsTer2) n.650_671dup | COSMIC COSMIC |
21 | g.34880620_34880651dup | CA2580617823 | RUNX1 | c.414_445dup (p.Ala149GlufsTer7) c.333_364dup (p.Ala122GlufsTer7) c.378_409dup (p.Ala137GlufsTer7) c.375_406dup (p.Ala136GlufsTer7) c.*4_*35dup (n.*4_*35dup) n.593_624dup c.261_292dup (p.Ala98GlufsTer7) n.640_671dup | |
21 | g.34880621G>A | CA10014514 | RUNX1 | c.444C>T (p.Thr148=) c.363C>T (p.Thr121=) c.408C>T (p.Thr136=) c.405C>T (p.Thr135=) c.*34C>T (n.*34C>T) n.623C>T c.291C>T (p.Thr97=) n.670C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.34880621G>C | CA512318725 | RUNX1 | c.444C>G (p.Thr148=) c.363C>G (p.Thr121=) c.408C>G (p.Thr136=) c.405C>G (p.Thr135=) c.*34C>G (n.*34C>G) n.623C>G c.291C>G (p.Thr97=) n.670C>G | dbSNP gnomAD v4 |
21 | g.34880621G= | CA2387294340 | RUNX1 | c.444C= (p.Thr148=) c.363C= (p.Thr121=) c.408C= (p.Thr136=) c.405C= (p.Thr135=) c.*34C= (n.*34C=) n.623C= c.291C= (p.Thr97=) n.670C= | |
21 | g.34880621G>T | CA512318726 | RUNX1 | c.444C>A (p.Thr148=) c.363C>A (p.Thr121=) c.408C>A (p.Thr136=) c.405C>A (p.Thr135=) c.*34C>A (n.*34C>A) n.623C>A c.291C>A (p.Thr97=) n.670C>A | |
21 | g.34880621_34880623dup | CA2830665545 | RUNX1 | c.442_444dup (p.Thr148_Ala149insThr) c.361_363dup (p.Thr121_Ala122insThr) c.406_408dup (p.Thr136_Ala137insThr) c.403_405dup (p.Thr135_Ala136insThr) c.*32_*34dup (n.*32_*34dup) n.621_623dup c.289_291dup (p.Thr97_Ala98insThr) n.668_670dup | |
21 | g.34880622_34880640dup | CA891842372 | RUNX1 | c.426_444dup (p.Ala149Ter) c.345_363dup (p.Ala122Ter) c.390_408dup (p.Ala137Ter) c.387_405dup (p.Ala136Ter) c.*16_*34dup (n.*16_*34dup) n.605_623dup c.273_291dup (p.Ala98Ter) n.652_670dup | |
21 | g.34880622G>A | CA410202597 | RUNX1 | c.443C>T (p.Thr148Ile) c.362C>T (p.Thr121Ile) c.407C>T (p.Thr136Ile) c.404C>T (p.Thr135Ile) c.*33C>T (n.*33C>T) n.622C>T c.290C>T (p.Thr97Ile) n.669C>T | ClinVar dbSNP |
21 | g.34880622G>C | CA410202598 | RUNX1 | c.443C>G (p.Thr148Ser) c.362C>G (p.Thr121Ser) c.407C>G (p.Thr136Ser) c.404C>G (p.Thr135Ser) c.*33C>G (n.*33C>G) n.622C>G c.290C>G (p.Thr97Ser) n.669C>G | ClinVar dbSNP |
21 | g.34880622G= | CA2387294341 | RUNX1 | c.443C= (p.Thr148=) c.362C= (p.Thr121=) c.407C= (p.Thr136=) c.404C= (p.Thr135=) c.*33C= (n.*33C=) n.622C= c.290C= (p.Thr97=) n.669C= | |
21 | g.34880622G>T | CA410202599 | RUNX1 | c.443C>A (p.Thr148Asn) c.362C>A (p.Thr121Asn) c.407C>A (p.Thr136Asn) c.404C>A (p.Thr135Asn) c.*33C>A (n.*33C>A) n.622C>A c.290C>A (p.Thr97Asn) n.669C>A | dbSNP |
21 | g.34880682_34880683insGGTTAGCCCCGTAGCATTTCTCAGCTCAGCCGAGTAGTTTTCATCATTGCCAGCCATCACAGTGACCAGAG | CA645607360 | RUNX1 | c.443_444insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala149GlyfsTer8) c.362_363insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala122GlyfsTer8) c.407_408insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala137GlyfsTer8) c.404_405insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala136GlyfsTer8) c.*33_*34insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (n.*33_*34insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC) n.622_623insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC c.290_291insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC (p.Ala98GlyfsTer8) n.669_670insGGGGCTAACCCTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTACTCGGCTGAGCTGAGAAATGCTAC | COSMIC |
21 | g.34880622_34880623insATCTACTC | CA645607361 | RUNX1 | c.442_443insGAGTAGAT (p.Thr148ArgfsTer7) c.361_362insGAGTAGAT (p.Thr121ArgfsTer7) c.406_407insGAGTAGAT (p.Thr136ArgfsTer7) c.403_404insGAGTAGAT (p.Thr135ArgfsTer7) c.*32_*33insGAGTAGAT (n.*32_*33insGAGTAGAT) n.621_622insGAGTAGAT c.289_290insGAGTAGAT (p.Thr97ArgfsTer7) n.668_669insGAGTAGAT | COSMIC |
21 | g.34880623T>A | CA410202601 | RUNX1 | c.442A>T (p.Thr148Ser) c.361A>T (p.Thr121Ser) c.406A>T (p.Thr136Ser) c.403A>T (p.Thr135Ser) c.*32A>T (n.*32A>T) n.621A>T c.289A>T (p.Thr97Ser) n.668A>T | dbSNP |
21 | g.34880623T>C | CA410202602 | RUNX1 | c.442A>G (p.Thr148Ala) c.361A>G (p.Thr121Ala) c.406A>G (p.Thr136Ala) c.403A>G (p.Thr135Ala) c.*32A>G (n.*32A>G) n.621A>G c.289A>G (p.Thr97Ala) n.668A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34880623T>G | CA410202600 | RUNX1 | c.442A>C (p.Thr148Pro) c.361A>C (p.Thr121Pro) c.406A>C (p.Thr136Pro) c.403A>C (p.Thr135Pro) c.*32A>C (n.*32A>C) n.621A>C c.289A>C (p.Thr97Pro) n.668A>C | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34880623T= | CA2387294342 | RUNX1 | c.442A= (p.Thr148=) c.361A= (p.Thr121=) c.406A= (p.Thr136=) c.403A= (p.Thr135=) c.*32A= (n.*32A=) n.621A= c.289A= (p.Thr97=) n.668A= | |
21 | g.34880624A= | CA2387294343 | RUNX1 | c.441T= (p.Ala147=) c.360T= (p.Ala120=) c.405T= (p.Ala135=) c.402T= (p.Ala134=) c.*31T= (n.*31T=) n.620T= c.288T= (p.Ala96=) n.667T= | |
21 | g.34880624A>C | CA512318728 | RUNX1 | c.441T>G (p.Ala147=) c.360T>G (p.Ala120=) c.405T>G (p.Ala135=) c.402T>G (p.Ala134=) c.*31T>G (n.*31T>G) n.620T>G c.288T>G (p.Ala96=) n.667T>G | |
21 | g.34880624A>G | CA10014515 | RUNX1 | c.441T>C (p.Ala147=) c.360T>C (p.Ala120=) c.405T>C (p.Ala135=) c.402T>C (p.Ala134=) c.*31T>C (n.*31T>C) n.620T>C c.288T>C (p.Ala96=) n.667T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34880624A>T | CA512318729 | RUNX1 | c.441T>A (p.Ala147=) c.360T>A (p.Ala120=) c.405T>A (p.Ala135=) c.402T>A (p.Ala134=) c.*31T>A (n.*31T>A) n.620T>A c.288T>A (p.Ala96=) n.667T>A | dbSNP |
21 | g.34880624dup | CA2695202320 | RUNX1 | c.441dup (p.Thr148TyrfsTer12) c.360dup (p.Thr121TyrfsTer12) c.405dup (p.Thr136TyrfsTer12) c.402dup (p.Thr135TyrfsTer?) c.*31dup (n.*31dup) c.402dup (p.Thr135TyrfsTer12) n.620dup c.288dup (p.Thr97TyrfsTer12) n.667dup | |
21 | g.34880627_34880636del | CA645607363 | RUNX1 | c.432_441del (p.Arg145ProfsTer4) c.351_360del (p.Arg118ProfsTer4) c.396_405del (p.Arg133ProfsTer4) c.393_402del (p.Arg132ProfsTer4) c.*22_*31del (n.*22_*31del) n.611_620del c.279_288del (p.Arg94ProfsTer4) n.658_667del | COSMIC |
21 | g.34880624_34880642dup | CA645607362 | RUNX1 | c.423_441dup (p.Thr148GlyfsTer2) c.342_360dup (p.Thr121GlyfsTer2) c.387_405dup (p.Thr136GlyfsTer2) c.384_402dup (p.Thr135GlyfsTer2) c.*13_*31dup (n.*13_*31dup) n.602_620dup c.270_288dup (p.Thr97GlyfsTer2) n.649_667dup | COSMIC COSMIC |
21 | g.34880625G>A | CA410202603 | RUNX1 | c.440C>T (p.Ala147Val) c.359C>T (p.Ala120Val) c.404C>T (p.Ala135Val) c.401C>T (p.Ala134Val) c.*30C>T (n.*30C>T) n.619C>T c.287C>T (p.Ala96Val) n.666C>T | ClinVar dbSNP gnomAD v4 |
21 | g.34880625G>C | CA410202604 | RUNX1 | c.440C>G (p.Ala147Gly) c.359C>G (p.Ala120Gly) c.404C>G (p.Ala135Gly) c.401C>G (p.Ala134Gly) c.*30C>G (n.*30C>G) n.619C>G c.287C>G (p.Ala96Gly) n.666C>G | ClinVar dbSNP |
21 | g.34880625G>T | CA410202605 | RUNX1 | c.440C>A (p.Ala147Asp) c.359C>A (p.Ala120Asp) c.404C>A (p.Ala135Asp) c.401C>A (p.Ala134Asp) c.*30C>A (n.*30C>A) n.619C>A c.287C>A (p.Ala96Asp) n.666C>A | COSMIC |
21 | g.34880625_34880626delinsAAAAGGCA | CA645607364 | RUNX1 | c.439_440delinsTGCCTTTT (p.Ala147delinsCysLeuPhe) c.358_359delinsTGCCTTTT (p.Ala120delinsCysLeuPhe) c.403_404delinsTGCCTTTT (p.Ala135delinsCysLeuPhe) c.400_401delinsTGCCTTTT (p.Ala134delinsCysLeuPhe) c.*29_*30delinsTGCCTTTT (n.*29_*30delinsTGCCTTTT) n.618_619delinsTGCCTTTT c.286_287delinsTGCCTTTT (p.Ala96delinsCysLeuPhe) n.665_666delinsTGCCTTTT | COSMIC COSMIC |
21 | g.34880626C>A | CA410202606 | RUNX1 | c.439G>T (p.Ala147Ser) c.358G>T (p.Ala120Ser) c.403G>T (p.Ala135Ser) c.400G>T (p.Ala134Ser) c.*29G>T (n.*29G>T) n.618G>T c.286G>T (p.Ala96Ser) n.665G>T | dbSNP |
21 | g.34880626C>G | CA410202607 | RUNX1 | c.439G>C (p.Ala147Pro) c.358G>C (p.Ala120Pro) c.403G>C (p.Ala135Pro) c.400G>C (p.Ala134Pro) c.*29G>C (n.*29G>C) n.618G>C c.286G>C (p.Ala96Pro) n.665G>C | dbSNP |
21 | g.34880626C>T | CA410202608 | RUNX1 | c.439G>A (p.Ala147Thr) c.358G>A (p.Ala120Thr) c.403G>A (p.Ala135Thr) c.400G>A (p.Ala134Thr) c.*29G>A (n.*29G>A) n.618G>A c.286G>A (p.Ala96Thr) n.665G>A | dbSNP |
21 | g.34880626dup | CA645607365 | RUNX1 | c.439dup (p.Ala147GlyfsTer13) c.358dup (p.Ala120GlyfsTer13) c.403dup (p.Ala135GlyfsTer13) c.400dup (p.Ala134GlyfsTer?) c.*29dup (n.*29dup) c.400dup (p.Ala134GlyfsTer13) n.618dup c.286dup (p.Ala96GlyfsTer13) n.665dup | COSMIC |
21 | g.34880628_34880639dup | CA2573157359 | RUNX1 | c.428_439dup (p.Asn146_Ala147insGluLeuArgAsn) c.347_358dup (p.Asn119_Ala120insGluLeuArgAsn) c.392_403dup (p.Asn134_Ala135insGluLeuArgAsn) c.389_400dup (p.Asn133_Ala134insGluLeuArgAsn) c.*18_*29dup (n.*18_*29dup) n.607_618dup c.275_286dup (p.Asn95_Ala96insGluLeuArgAsn) n.654_665dup | ClinVar dbSNP |
21 | g.34880627A= | CA2387294344 | RUNX1 | c.438T= (p.Asn146=) c.357T= (p.Asn119=) c.402T= (p.Asn134=) c.399T= (p.Asn133=) c.*28T= (n.*28T=) n.617T= c.285T= (p.Asn95=) n.664T= | |
21 | g.34880627A>C | CA410202609 | RUNX1 | c.438T>G (p.Asn146Lys) c.357T>G (p.Asn119Lys) c.402T>G (p.Asn134Lys) c.399T>G (p.Asn133Lys) c.*28T>G (n.*28T>G) n.617T>G c.285T>G (p.Asn95Lys) n.664T>G | dbSNP COSMIC COSMIC |
21 | g.34880627A>G | CA10014516 | RUNX1 | c.438T>C (p.Asn146=) c.357T>C (p.Asn119=) c.402T>C (p.Asn134=) c.399T>C (p.Asn133=) c.*28T>C (n.*28T>C) n.617T>C c.285T>C (p.Asn95=) n.664T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34880627A>T | CA410202610 | RUNX1 | c.438T>A (p.Asn146Lys) c.357T>A (p.Asn119Lys) c.402T>A (p.Asn134Lys) c.399T>A (p.Asn133Lys) c.*28T>A (n.*28T>A) n.617T>A c.285T>A (p.Asn95Lys) n.664T>A | dbSNP |
21 | g.34880628T>A | CA410202611 | RUNX1 | c.437A>T (p.Asn146Ile) c.356A>T (p.Asn119Ile) c.401A>T (p.Asn134Ile) c.398A>T (p.Asn133Ile) c.*27A>T (n.*27A>T) n.616A>T c.284A>T (p.Asn95Ile) n.663A>T | ClinVar dbSNP COSMIC |
21 | g.34880628T>C | CA410202612 | RUNX1 | c.437A>G (p.Asn146Ser) c.356A>G (p.Asn119Ser) c.401A>G (p.Asn134Ser) c.398A>G (p.Asn133Ser) c.*27A>G (n.*27A>G) n.616A>G c.284A>G (p.Asn95Ser) n.663A>G | |
21 | g.34880628T>G | CA410202613 | RUNX1 | c.437A>C (p.Asn146Thr) c.356A>C (p.Asn119Thr) c.401A>C (p.Asn134Thr) c.398A>C (p.Asn133Thr) c.*27A>C (n.*27A>C) n.616A>C c.284A>C (p.Asn95Thr) n.663A>C | COSMIC COSMIC |
21 | g.34880628T= | CA2387294345 | RUNX1 | c.437A= (p.Asn146=) c.356A= (p.Asn119=) c.401A= (p.Asn134=) c.398A= (p.Asn133=) c.*27A= (n.*27A=) n.616A= c.284A= (p.Asn95=) n.663A= | |
21 | g.34880629T>A | CA410202614 | RUNX1 | c.436A>T (p.Asn146Tyr) c.355A>T (p.Asn119Tyr) c.400A>T (p.Asn134Tyr) c.397A>T (p.Asn133Tyr) c.*26A>T (n.*26A>T) n.615A>T c.283A>T (p.Asn95Tyr) n.662A>T | ClinVar dbSNP |
21 | g.34880629T>C | CA410202616 | RUNX1 | c.436A>G (p.Asn146Asp) c.355A>G (p.Asn119Asp) c.400A>G (p.Asn134Asp) c.397A>G (p.Asn133Asp) c.*26A>G (n.*26A>G) n.615A>G c.283A>G (p.Asn95Asp) n.662A>G | gnomAD v4 |
21 | g.34880629T>G | CA410202615 | RUNX1 | c.436A>C (p.Asn146His) c.355A>C (p.Asn119His) c.400A>C (p.Asn134His) c.397A>C (p.Asn133His) c.*26A>C (n.*26A>C) n.615A>C c.283A>C (p.Asn95His) n.662A>C | |
21 | g.34880629T= | CA2387294346 | RUNX1 | c.436A= (p.Asn146=) c.355A= (p.Asn119=) c.400A= (p.Asn134=) c.397A= (p.Asn133=) c.*26A= (n.*26A=) n.615A= c.283A= (p.Asn95=) n.662A= | |
21 | g.34880630T>A | CA410202617 | RUNX1 | c.435A>T (p.Arg145Ser) c.354A>T (p.Arg118Ser) c.399A>T (p.Arg133Ser) c.396A>T (p.Arg132Ser) c.*25A>T (n.*25A>T) n.614A>T c.282A>T (p.Arg94Ser) n.661A>T | |
21 | g.34880630T>C | CA512318730 | RUNX1 | c.435A>G (p.Arg145=) c.354A>G (p.Arg118=) c.399A>G (p.Arg133=) c.396A>G (p.Arg132=) c.*25A>G (n.*25A>G) n.614A>G c.282A>G (p.Arg94=) n.661A>G | |
21 | g.34880630T>G | CA410202618 | RUNX1 | c.435A>C (p.Arg145Ser) c.354A>C (p.Arg118Ser) c.399A>C (p.Arg133Ser) c.396A>C (p.Arg132Ser) c.*25A>C (n.*25A>C) n.614A>C c.282A>C (p.Arg94Ser) n.661A>C | |
21 | g.34880630_34880631insATCTACTC | CA645607367 | RUNX1 | c.434_435insGAGTAGAT (p.Asn146SerfsTer3) c.353_354insGAGTAGAT (p.Asn119SerfsTer3) c.398_399insGAGTAGAT (p.Asn134SerfsTer3) c.395_396insGAGTAGAT (p.Asn133SerfsTer3) c.*24_*25insGAGTAGAT (n.*24_*25insGAGTAGAT) n.613_614insGAGTAGAT c.281_282insGAGTAGAT (p.Asn95SerfsTer3) n.660_661insGAGTAGAT | COSMIC |
21 | g.34880631C>A | CA410202619 | RUNX1 | c.434G>T (p.Arg145Ile) c.353G>T (p.Arg118Ile) c.398G>T (p.Arg133Ile) c.395G>T (p.Arg132Ile) c.*24G>T (n.*24G>T) n.613G>T c.281G>T (p.Arg94Ile) n.660G>T | |
21 | g.34880631C>G | CA410202620 | RUNX1 | c.434G>C (p.Arg145Thr) c.353G>C (p.Arg118Thr) c.398G>C (p.Arg133Thr) c.395G>C (p.Arg132Thr) c.*24G>C (n.*24G>C) n.613G>C c.281G>C (p.Arg94Thr) n.660G>C | |
21 | g.34880631C>T | CA410202621 | RUNX1 | c.434G>A (p.Arg145Lys) c.353G>A (p.Arg118Lys) c.398G>A (p.Arg133Lys) c.395G>A (p.Arg132Lys) c.*24G>A (n.*24G>A) n.613G>A c.281G>A (p.Arg94Lys) n.660G>A | |
21 | g.34880637_34880641dup | CA645607366 | RUNX1 | c.430_434dup (p.Arg145SerfsTer2) c.349_353dup (p.Arg118SerfsTer2) c.394_398dup (p.Arg133SerfsTer2) c.391_395dup (p.Arg132SerfsTer2) c.*20_*24dup (n.*20_*24dup) n.609_613dup c.277_281dup (p.Arg94SerfsTer2) n.656_660dup | COSMIC COSMIC |
21 | g.34880637_34880641del | CA2737753333 | RUNX1 | c.430_434del (p.Leu144LysfsTer14) c.349_353del (p.Leu117LysfsTer14) c.394_398del (p.Leu132LysfsTer14) c.391_395del (p.Leu131LysfsTer?) c.*20_*24del (n.*20_*24del) c.391_395del (p.Leu131LysfsTer14) n.609_613del c.277_281del (p.Leu93LysfsTer14) n.656_660del | dbSNP |
21 | g.34880632T>A | CA410202622 | RUNX1 | c.433A>T (p.Arg145Ter) c.352A>T (p.Arg118Ter) c.397A>T (p.Arg133Ter) c.394A>T (p.Arg132Ter) c.*23A>T (n.*23A>T) n.612A>T c.280A>T (p.Arg94Ter) n.659A>T | dbSNP |
21 | g.34880632T>C | CA16616277 | RUNX1 | c.433A>G (p.Arg145Gly) c.352A>G (p.Arg118Gly) c.397A>G (p.Arg133Gly) c.394A>G (p.Arg132Gly) c.*23A>G (n.*23A>G) n.612A>G c.280A>G (p.Arg94Gly) n.659A>G | ClinVar dbSNP COSMIC |
21 | g.34880632T>G | CA10014517 | RUNX1 | c.433A>C (p.Arg145=) c.352A>C (p.Arg118=) c.397A>C (p.Arg133=) c.394A>C (p.Arg132=) c.*23A>C (n.*23A>C) n.612A>C c.280A>C (p.Arg94=) n.659A>C | ClinVar dbSNP ExAC |
21 | g.34880632T= | CA2387294347 | RUNX1 | c.433A= (p.Arg145=) c.352A= (p.Arg118=) c.397A= (p.Arg133=) c.394A= (p.Arg132=) c.*23A= (n.*23A=) n.612A= c.280A= (p.Arg94=) n.659A= | |
21 | g.34880633C>A | CA512318732 | RUNX1 | c.432G>T (p.Leu144=) c.351G>T (p.Leu117=) c.396G>T (p.Leu132=) c.393G>T (p.Leu131=) c.*22G>T (n.*22G>T) n.611G>T c.279G>T (p.Leu93=) n.658G>T | dbSNP |
21 | g.34880633C>G | CA512318733 | RUNX1 | c.432G>C (p.Leu144=) c.351G>C (p.Leu117=) c.396G>C (p.Leu132=) c.393G>C (p.Leu131=) c.*22G>C (n.*22G>C) n.611G>C c.279G>C (p.Leu93=) n.658G>C | dbSNP |
21 | g.34880633C>T | CA512318731 | RUNX1 | c.432G>A (p.Leu144=) c.351G>A (p.Leu117=) c.396G>A (p.Leu132=) c.393G>A (p.Leu131=) c.*22G>A (n.*22G>A) n.611G>A c.279G>A (p.Leu93=) n.658G>A | ClinVar dbSNP |
21 | g.34880633_34880641delinsGGGGGT | CA645607368 | RUNX1 | c.424_432delinsACCCCC (p.Ala142_Leu144delinsThrPro) c.343_351delinsACCCCC (p.Ala115_Leu117delinsThrPro) c.388_396delinsACCCCC (p.Ala130_Leu132delinsThrPro) c.385_393delinsACCCCC (p.Ala129_Leu131delinsThrPro) c.*14_*22delinsACCCCC (n.*14_*22delinsACCCCC) n.603_611delinsACCCCC c.271_279delinsACCCCC (p.Ala91_Leu93delinsThrPro) n.650_658delinsACCCCC | COSMIC |
21 | g.34880634A= | CA2387294348 | RUNX1 | c.431T= (p.Leu144=) c.350T= (p.Leu117=) c.395T= (p.Leu132=) c.392T= (p.Leu131=) c.*21T= (n.*21T=) n.610T= c.278T= (p.Leu93=) n.657T= | |
21 | g.34880634A>C | CA410202623 | RUNX1 | c.431T>G (p.Leu144Arg) c.350T>G (p.Leu117Arg) c.395T>G (p.Leu132Arg) c.392T>G (p.Leu131Arg) c.*21T>G (n.*21T>G) n.610T>G c.278T>G (p.Leu93Arg) n.657T>G | |
21 | g.34880634A>G | CA320637976 | RUNX1 | c.431T>C (p.Leu144Pro) c.350T>C (p.Leu117Pro) c.395T>C (p.Leu132Pro) c.392T>C (p.Leu131Pro) c.*21T>C (n.*21T>C) n.610T>C c.278T>C (p.Leu93Pro) n.657T>C | ClinVar dbSNP COSMIC |
21 | g.34880634A>T | CA410202624 | RUNX1 | c.431T>A (p.Leu144Gln) c.350T>A (p.Leu117Gln) c.395T>A (p.Leu132Gln) c.392T>A (p.Leu131Gln) c.*21T>A (n.*21T>A) n.610T>A c.278T>A (p.Leu93Gln) n.657T>A | dbSNP |
21 | g.34880651_34880652insGGAAGCTCAGCCGAGTAGTTT | CA2695202658 | RUNX1 | c.431_432insTCCAAACTACTCGGCTGAGCT (p.Leu144_Arg145insProAsnTyrSerAlaGluLeu) c.350_351insTCCAAACTACTCGGCTGAGCT (p.Leu117_Arg118insProAsnTyrSerAlaGluLeu) c.395_396insTCCAAACTACTCGGCTGAGCT (p.Leu132_Arg133insProAsnTyrSerAlaGluLeu) c.392_393insTCCAAACTACTCGGCTGAGCT (p.Leu131_Arg132insProAsnTyrSerAlaGluLeu) c.*21_*22insTCCAAACTACTCGGCTGAGCT (n.*21_*22insTCCAAACTACTCGGCTGAGCT) n.610_611insTCCAAACTACTCGGCTGAGCT c.278_279insTCCAAACTACTCGGCTGAGCT (p.Leu93_Arg94insProAsnTyrSerAlaGluLeu) n.657_658insTCCAAACTACTCGGCTGAGCT | |
21 | g.34880635G>A | CA512318734 | RUNX1 | c.430C>T (p.Leu144=) c.349C>T (p.Leu117=) c.394C>T (p.Leu132=) c.391C>T (p.Leu131=) c.*20C>T (n.*20C>T) n.609C>T c.277C>T (p.Leu93=) n.656C>T | ClinVar dbSNP |
21 | g.34880635G>C | CA410202625 | RUNX1 | c.430C>G (p.Leu144Val) c.349C>G (p.Leu117Val) c.394C>G (p.Leu132Val) c.391C>G (p.Leu131Val) c.*20C>G (n.*20C>G) n.609C>G c.277C>G (p.Leu93Val) n.656C>G | dbSNP |
21 | g.34880635G>T | CA410202626 | RUNX1 | c.430C>A (p.Leu144Met) c.349C>A (p.Leu117Met) c.394C>A (p.Leu132Met) c.391C>A (p.Leu131Met) c.*20C>A (n.*20C>A) n.609C>A c.277C>A (p.Leu93Met) n.656C>A | dbSNP |
21 | g.34880636C>A | CA410202627 | RUNX1 | c.429G>T (p.Glu143Asp) c.348G>T (p.Glu116Asp) c.393G>T (p.Glu131Asp) c.390G>T (p.Glu130Asp) c.*19G>T (n.*19G>T) n.608G>T c.276G>T (p.Glu92Asp) n.655G>T | dbSNP |
21 | g.34880636C>G | CA410202628 | RUNX1 | c.429G>C (p.Glu143Asp) c.348G>C (p.Glu116Asp) c.393G>C (p.Glu131Asp) c.390G>C (p.Glu130Asp) c.*19G>C (n.*19G>C) n.608G>C c.276G>C (p.Glu92Asp) n.655G>C | dbSNP |
21 | g.34880636C>T | CA512318735 | RUNX1 | c.429G>A (p.Glu143=) c.348G>A (p.Glu116=) c.393G>A (p.Glu131=) c.390G>A (p.Glu130=) c.*19G>A (n.*19G>A) n.608G>A c.276G>A (p.Glu92=) n.655G>A | |
21 | g.34880637_34880638del | CA2580618078 | RUNX1 | c.428_429del (p.Glu143AlafsTer16) c.347_348del (p.Glu116AlafsTer16) c.392_393del (p.Glu131AlafsTer16) c.389_390del (p.Glu130AlafsTer?) c.*18_*19del (n.*18_*19del) c.389_390del (p.Glu130AlafsTer16) n.607_608del c.275_276del (p.Glu92AlafsTer16) n.654_655del | |
21 | g.34880636_34880642del | CA645607369 | RUNX1 | c.423_429del (p.Ala142Ter) c.342_348del (p.Ala115Ter) c.387_393del (p.Ala130Ter) c.384_390del (p.Ala129Ter) c.*13_*19del (n.*13_*19del) n.602_608del c.270_276del (p.Ala91Ter) n.649_655del | COSMIC COSMIC |
21 | g.34880637del | CA2695202659 | RUNX1 | c.428del (p.Glu143GlyfsTer2) c.347del (p.Glu116GlyfsTer2) c.392del (p.Glu131GlyfsTer2) c.389del (p.Glu130GlyfsTer2) c.*18del (n.*18del) n.607del c.275del (p.Glu92GlyfsTer2) n.654del | |
21 | g.34880637T>A | CA410202629 | RUNX1 | c.428A>T (p.Glu143Val) c.347A>T (p.Glu116Val) c.392A>T (p.Glu131Val) c.389A>T (p.Glu130Val) c.*18A>T (n.*18A>T) n.607A>T c.275A>T (p.Glu92Val) n.654A>T | dbSNP |
21 | g.34880637T>C | CA410202631 | RUNX1 | c.428A>G (p.Glu143Gly) c.347A>G (p.Glu116Gly) c.392A>G (p.Glu131Gly) c.389A>G (p.Glu130Gly) c.*18A>G (n.*18A>G) n.607A>G c.275A>G (p.Glu92Gly) n.654A>G | dbSNP |
21 | g.34880637T>G | CA410202630 | RUNX1 | c.428A>C (p.Glu143Ala) c.347A>C (p.Glu116Ala) c.392A>C (p.Glu131Ala) c.389A>C (p.Glu130Ala) c.*18A>C (n.*18A>C) n.607A>C c.275A>C (p.Glu92Ala) n.654A>C | |
21 | g.34880644_34880645insAAGGAGTCAGCCGA | CA645607370 | RUNX1 | c.428_429insCTCCTTTCGGCTGA (p.Glu143AspfsTer7) c.347_348insCTCCTTTCGGCTGA (p.Glu116AspfsTer7) c.392_393insCTCCTTTCGGCTGA (p.Glu131AspfsTer7) c.389_390insCTCCTTTCGGCTGA (p.Glu130AspfsTer7) c.*18_*19insCTCCTTTCGGCTGA (n.*18_*19insCTCCTTTCGGCTGA) n.607_608insCTCCTTTCGGCTGA c.275_276insCTCCTTTCGGCTGA (p.Glu92AspfsTer7) n.654_655insCTCCTTTCGGCTGA | COSMIC |
21 | g.34880638C>A | CA410202632 | RUNX1 | c.427G>T (p.Glu143Ter) c.346G>T (p.Glu116Ter) c.391G>T (p.Glu131Ter) c.388G>T (p.Glu130Ter) c.*17G>T (n.*17G>T) n.606G>T c.274G>T (p.Glu92Ter) n.653G>T | |
21 | g.34880638C>G | CA410202634 | RUNX1 | c.427G>C (p.Glu143Gln) c.346G>C (p.Glu116Gln) c.391G>C (p.Glu131Gln) c.388G>C (p.Glu130Gln) c.*17G>C (n.*17G>C) n.606G>C c.274G>C (p.Glu92Gln) n.653G>C | dbSNP |
21 | g.34880638C>T | CA410202633 | RUNX1 | c.427G>A (p.Glu143Lys) c.346G>A (p.Glu116Lys) c.391G>A (p.Glu131Lys) c.388G>A (p.Glu130Lys) c.*17G>A (n.*17G>A) n.606G>A c.274G>A (p.Glu92Lys) n.653G>A | dbSNP |
21 | g.34880638_34880662dup | CA645607371 | RUNX1 | c.403_427dup (p.Glu143GlyfsTer3) c.322_346dup (p.Glu116GlyfsTer3) c.367_391dup (p.Glu131GlyfsTer3) c.364_388dup (p.Glu130GlyfsTer3) c.110_*17dup (n.110_*17dup) n.582_606dup c.250_274dup (p.Glu92GlyfsTer3) n.629_653dup | COSMIC |
21 | g.34880639A= | CA2387294349 | RUNX1 | c.426T= (p.Ala142=) c.345T= (p.Ala115=) c.390T= (p.Ala130=) c.387T= (p.Ala129=) c.*16T= (n.*16T=) n.605T= c.273T= (p.Ala91=) n.652T= | |
21 | g.34880639A>C | CA512318736 | RUNX1 | c.426T>G (p.Ala142=) c.345T>G (p.Ala115=) c.390T>G (p.Ala130=) c.387T>G (p.Ala129=) c.*16T>G (n.*16T>G) n.605T>G c.273T>G (p.Ala91=) n.652T>G | |
21 | g.34880639A>G | CA10014518 | RUNX1 | c.426T>C (p.Ala142=) c.345T>C (p.Ala115=) c.390T>C (p.Ala130=) c.387T>C (p.Ala129=) c.*16T>C (n.*16T>C) n.605T>C c.273T>C (p.Ala91=) n.652T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34880639A>T | CA512318737 | RUNX1 | c.426T>A (p.Ala142=) c.345T>A (p.Ala115=) c.390T>A (p.Ala130=) c.387T>A (p.Ala129=) c.*16T>A (n.*16T>A) n.605T>A c.273T>A (p.Ala91=) n.652T>A | dbSNP |
21 | g.34880641_34880645del | CA2579985606 | RUNX1 | c.422_426del (p.Ser141Ter) c.341_345del (p.Ser114Ter) c.386_390del (p.Ser129Ter) c.383_387del (p.Ser128Ter) c.*12_*16del (n.*12_*16del) n.601_605del c.269_273del (p.Ser90Ter) n.648_652del | |
21 | g.34880639_34880640insCCATCC | CA645607372 | RUNX1 | c.425_426insGGATGG (p.Ala142_Glu143insAspGly) c.344_345insGGATGG (p.Ala115_Glu116insAspGly) c.389_390insGGATGG (p.Ala130_Glu131insAspGly) c.386_387insGGATGG (p.Ala129_Glu130insAspGly) c.*15_*16insGGATGG (n.*15_*16insGGATGG) n.604_605insGGATGG c.272_273insGGATGG (p.Ala91_Glu92insAspGly) n.651_652insGGATGG | COSMIC |
21 | g.34880640G>A | CA410202637 | RUNX1 | c.425C>T (p.Ala142Val) c.344C>T (p.Ala115Val) c.389C>T (p.Ala130Val) c.386C>T (p.Ala129Val) c.*15C>T (n.*15C>T) n.604C>T c.272C>T (p.Ala91Val) n.651C>T | dbSNP |
21 | g.34880640G>C | CA410202635 | RUNX1 | c.425C>G (p.Ala142Gly) c.344C>G (p.Ala115Gly) c.389C>G (p.Ala130Gly) c.386C>G (p.Ala129Gly) c.*15C>G (n.*15C>G) n.604C>G c.272C>G (p.Ala91Gly) n.651C>G | dbSNP |
21 | g.34880640G= | CA2387294350 | RUNX1 | c.425C= (p.Ala142=) c.344C= (p.Ala115=) c.389C= (p.Ala130=) c.386C= (p.Ala129=) c.*15C= (n.*15C=) n.604C= c.272C= (p.Ala91=) n.651C= | |
21 | g.34880640G>T | CA410202636 | RUNX1 | c.425C>A (p.Ala142Asp) c.344C>A (p.Ala115Asp) c.389C>A (p.Ala130Asp) c.386C>A (p.Ala129Asp) c.*15C>A (n.*15C>A) n.604C>A c.272C>A (p.Ala91Asp) n.651C>A | dbSNP COSMIC COSMIC |
21 | g.34880640_34880642delinsAGG | CA2580618079 | RUNX1 | c.423_425delinsCCT (p.Ala142Leu) c.342_344delinsCCT (p.Ala115Leu) c.387_389delinsCCT (p.Ala130Leu) c.384_386delinsCCT (p.Ala129Leu) c.*13_*15delinsCCT (n.*13_*15delinsCCT) n.602_604delinsCCT c.270_272delinsCCT (p.Ala91Leu) n.649_651delinsCCT | |
21 | g.34880640_34880643dup | CA645607373 | RUNX1 | c.422_425dup (p.Glu143GlyfsTer2) c.341_344dup (p.Glu116GlyfsTer2) c.386_389dup (p.Glu131GlyfsTer2) c.383_386dup (p.Glu130GlyfsTer2) c.*12_*15dup (n.*12_*15dup) n.601_604dup c.269_272dup (p.Glu92GlyfsTer2) n.648_651dup | COSMIC |
21 | g.34880640_34880641insGGGA | CA645607377 | RUNX1 | c.424_425insTCCC (p.Ala142ValfsTer3) c.343_344insTCCC (p.Ala115ValfsTer3) c.388_389insTCCC (p.Ala130ValfsTer3) c.385_386insTCCC (p.Ala129ValfsTer3) c.*14_*15insTCCC (n.*14_*15insTCCC) n.603_604insTCCC c.271_272insTCCC (p.Ala91ValfsTer3) n.650_651insTCCC | COSMIC |
21 | g.34880641C>A | CA410202638 | RUNX1 | c.424G>T (p.Ala142Ser) c.343G>T (p.Ala115Ser) c.388G>T (p.Ala130Ser) c.385G>T (p.Ala129Ser) c.*14G>T (n.*14G>T) n.603G>T c.271G>T (p.Ala91Ser) n.650G>T | dbSNP |
21 | g.34880641C>G | CA410202639 | RUNX1 | c.424G>C (p.Ala142Pro) c.343G>C (p.Ala115Pro) c.388G>C (p.Ala130Pro) c.385G>C (p.Ala129Pro) c.*14G>C (n.*14G>C) n.603G>C c.271G>C (p.Ala91Pro) n.650G>C | dbSNP |
21 | g.34880641C>T | CA410202640 | RUNX1 | c.424G>A (p.Ala142Thr) c.343G>A (p.Ala115Thr) c.388G>A (p.Ala130Thr) c.385G>A (p.Ala129Thr) c.*14G>A (n.*14G>A) n.603G>A c.271G>A (p.Ala91Thr) n.650G>A | dbSNP |
21 | g.34880641_34880642insAACC | CA1139771064 | RUNX1 | c.424_425insGTTG (p.Ala142GlyfsTer3) c.343_344insGTTG (p.Ala115GlyfsTer3) c.388_389insGTTG (p.Ala130GlyfsTer3) c.385_386insGTTG (p.Ala129GlyfsTer3) c.*14_*15insGTTG (n.*14_*15insGTTG) n.603_604insGTTG c.271_272insGTTG (p.Ala91GlyfsTer3) n.650_651insGTTG | |
21 | g.34880641_34880642insAAATC | CA645607379 | RUNX1 | c.424_425insATTTG (p.Ala142AspfsTer5) c.343_344insATTTG (p.Ala115AspfsTer5) c.388_389insATTTG (p.Ala130AspfsTer5) c.385_386insATTTG (p.Ala129AspfsTer5) c.*14_*15insATTTG (n.*14_*15insATTTG) n.603_604insATTTG c.271_272insATTTG (p.Ala91AspfsTer5) n.650_651insATTTG | COSMIC |
21 | g.34880641_34880642del | CA2580618080 | RUNX1 | c.423_424del (p.Ala142Ter) c.342_343del (p.Ala115Ter) c.387_388del (p.Ala130Ter) c.384_385del (p.Ala129Ter) c.*13_*14del (n.*13_*14del) n.602_603del c.270_271del (p.Ala91Ter) n.649_650del | |
21 | g.34880642_34880643insCCC | CA645607376 | RUNX1 | c.424_425insGGG (p.Ser141_Ala142insGly) c.343_344insGGG (p.Ser114_Ala115insGly) c.388_389insGGG (p.Ser129_Ala130insGly) c.385_386insGGG (p.Ser128_Ala129insGly) c.*14_*15insGGG (n.*14_*15insGGG) n.603_604insGGG c.271_272insGGG (p.Ser90_Ala91insGly) n.650_651insGGG | COSMIC |
21 | g.34880642_34880643insAACC | CA1139771063 | RUNX1 | c.424_425insTTGG (p.Ala142ValfsTer3) c.343_344insTTGG (p.Ala115ValfsTer3) c.388_389insTTGG (p.Ala130ValfsTer3) c.385_386insTTGG (p.Ala129ValfsTer3) c.*14_*15insTTGG (n.*14_*15insTTGG) n.603_604insTTGG c.271_272insTTGG (p.Ala91ValfsTer3) n.650_651insTTGG | |
21 | g.34880642_34880643insTGCCCCC | CA645607375 | RUNX1 | c.424_425insGGGCAGG (p.Ala142GlyfsTer4) c.343_344insGGGCAGG (p.Ala115GlyfsTer4) c.388_389insGGGCAGG (p.Ala130GlyfsTer4) c.385_386insGGGCAGG (p.Ala129GlyfsTer4) c.*14_*15insGGGCAGG (n.*14_*15insGGGCAGG) n.603_604insGGGCAGG c.271_272insGGGCAGG (p.Ala91GlyfsTer4) n.650_651insGGGCAGG | COSMIC COSMIC |
21 | g.34880642dup | CA658824419 | RUNX1 | c.424dup (p.Ala142GlyfsTer2) c.343dup (p.Ala115GlyfsTer2) c.388dup (p.Ala130GlyfsTer2) c.385dup (p.Ala129GlyfsTer2) c.*14dup (n.*14dup) n.603dup c.271dup (p.Ala91GlyfsTer2) n.650dup | ClinVar dbSNP |
21 | g.34880641_34880642dup | CA645607378 | RUNX1 | c.423_424dup (p.Ala142GlyfsTer4) c.342_343dup (p.Ala115GlyfsTer4) c.387_388dup (p.Ala130GlyfsTer4) c.384_385dup (p.Ala129GlyfsTer4) c.*13_*14dup (n.*13_*14dup) n.602_603dup c.270_271dup (p.Ala91GlyfsTer4) n.649_650dup | COSMIC |
21 | g.34880642del | CA645607374 | RUNX1 | c.424del (p.Ala142LeufsTer3) c.343del (p.Ala115LeufsTer3) c.388del (p.Ala130LeufsTer3) c.385del (p.Ala129LeufsTer3) c.*14del (n.*14del) n.603del c.271del (p.Ala91LeufsTer3) n.650del | ClinVar COSMIC COSMIC |
21 | g.34880643_34880644insGGTCCG | CA2573335146 | RUNX1 | c.424_425insACCCGG (p.Ser141_Ala142insAspPro) c.343_344insACCCGG (p.Ser114_Ala115insAspPro) c.388_389insACCCGG (p.Ser129_Ala130insAspPro) c.385_386insACCCGG (p.Ser128_Ala129insAspPro) c.*14_*15insACCCGG (n.*14_*15insACCCGG) n.603_604insACCCGG c.271_272insACCCGG (p.Ser90_Ala91insAspPro) n.650_651insACCCGG | |
21 | g.34880641_34880642insGG | CA645607384 | RUNX1 | c.423_424insCC (p.Ala142ProfsTer4) c.342_343insCC (p.Ala115ProfsTer4) c.387_388insCC (p.Ala130ProfsTer4) c.384_385insCC (p.Ala129ProfsTer4) c.*13_*14insCC (n.*13_*14insCC) n.602_603insCC c.270_271insCC (p.Ala91ProfsTer4) n.649_650insCC | COSMIC COSMIC |
21 | g.34880641_34880642insTT | CA645607381 | RUNX1 | c.423_424insAA (p.Ala142LysfsTer4) c.342_343insAA (p.Ala115LysfsTer4) c.387_388insAA (p.Ala130LysfsTer4) c.384_385insAA (p.Ala129LysfsTer4) c.*13_*14insAA (n.*13_*14insAA) n.602_603insAA c.270_271insAA (p.Ala91LysfsTer4) n.649_650insAA | COSMIC COSMIC |
21 | g.34880641_34880642insGGG | CA645607383 | RUNX1 | c.423_424insCCC (p.Ser141_Ala142insPro) c.342_343insCCC (p.Ser114_Ala115insPro) c.387_388insCCC (p.Ser129_Ala130insPro) c.384_385insCCC (p.Ser128_Ala129insPro) c.*13_*14insCCC (n.*13_*14insCCC) n.602_603insCCC c.270_271insCCC (p.Ser90_Ala91insPro) n.649_650insCCC | COSMIC |
21 | g.34880641_34880642insGGTT | CA1139771060 | RUNX1 | c.423_424insAACC (p.Ala142AsnfsTer3) c.342_343insAACC (p.Ala115AsnfsTer3) c.387_388insAACC (p.Ala130AsnfsTer3) c.384_385insAACC (p.Ala129AsnfsTer3) c.*13_*14insAACC (n.*13_*14insAACC) n.602_603insAACC c.270_271insAACC (p.Ala91AsnfsTer3) n.649_650insAACC | |
21 | g.34880641_34880642insGGAACAGACTTCTT | CA645607382 | RUNX1 | c.423_424insAAGAAGTCTGTTCC (p.Ala142LysfsTer8) c.342_343insAAGAAGTCTGTTCC (p.Ala115LysfsTer8) c.387_388insAAGAAGTCTGTTCC (p.Ala130LysfsTer8) c.384_385insAAGAAGTCTGTTCC (p.Ala129LysfsTer8) c.*13_*14insAAGAAGTCTGTTCC (n.*13_*14insAAGAAGTCTGTTCC) n.602_603insAAGAAGTCTGTTCC c.270_271insAAGAAGTCTGTTCC (p.Ala91LysfsTer8) n.649_650insAAGAAGTCTGTTCC | COSMIC |
21 | g.34880642C>A | CA512318738 | RUNX1 | c.423G>T (p.Ser141=) c.342G>T (p.Ser114=) c.387G>T (p.Ser129=) c.384G>T (p.Ser128=) c.*13G>T (n.*13G>T) n.602G>T c.270G>T (p.Ser90=) n.649G>T | dbSNP |
21 | g.34880642C= | CA2387294351 | RUNX1 | c.423G= (p.Ser141=) c.342G= (p.Ser114=) c.387G= (p.Ser129=) c.384G= (p.Ser128=) c.*13G= (n.*13G=) n.602G= c.270G= (p.Ser90=) n.649G= | |
21 | g.34880642C>G | CA512318739 | RUNX1 | c.423G>C (p.Ser141=) c.342G>C (p.Ser114=) c.387G>C (p.Ser129=) c.384G>C (p.Ser128=) c.*13G>C (n.*13G>C) n.602G>C c.270G>C (p.Ser90=) n.649G>C | ClinVar dbSNP |
21 | g.34880642C>T | CA10014519 | RUNX1 | c.423G>A (p.Ser141=) c.342G>A (p.Ser114=) c.387G>A (p.Ser129=) c.384G>A (p.Ser128=) c.*13G>A (n.*13G>A) n.602G>A c.270G>A (p.Ser90=) n.649G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34880642delinsGGAAGG | CA645607380 | RUNX1 | c.423delinsCCTTCC (p.Ala142LeufsTer5) c.342delinsCCTTCC (p.Ala115LeufsTer5) c.387delinsCCTTCC (p.Ala130LeufsTer5) c.384delinsCCTTCC (p.Ala129LeufsTer5) c.*13delinsCCTTCC (n.*13delinsCCTTCC) n.602delinsCCTTCC c.270delinsCCTTCC (p.Ala91LeufsTer5) n.649delinsCCTTCC | COSMIC |
21 | g.34880642_34880643insA | CA645607388 | RUNX1 | c.422_423insT (p.Ala142GlyfsTer2) c.341_342insT (p.Ala115GlyfsTer2) c.386_387insT (p.Ala130GlyfsTer2) c.383_384insT (p.Ala129GlyfsTer2) c.*12_*13insT (n.*12_*13insT) n.601_602insT c.269_270insT (p.Ala91GlyfsTer2) n.648_649insT | COSMIC COSMIC |
21 | g.34880642_34880643insAA | CA645607386 | RUNX1 | c.422_423insTT (p.Ala142TrpfsTer4) c.341_342insTT (p.Ala115TrpfsTer4) c.386_387insTT (p.Ala130TrpfsTer4) c.383_384insTT (p.Ala129TrpfsTer4) c.*12_*13insTT (n.*12_*13insTT) n.601_602insTT c.269_270insTT (p.Ala91TrpfsTer4) n.648_649insTT | COSMIC COSMIC |
21 | g.34880642_34880643insAGG | CA645607391 | RUNX1 | c.422_423insCCT (p.Ser141_Ala142insLeu) c.341_342insCCT (p.Ser114_Ala115insLeu) c.386_387insCCT (p.Ser129_Ala130insLeu) c.383_384insCCT (p.Ser128_Ala129insLeu) c.*12_*13insCCT (n.*12_*13insCCT) n.601_602insCCT c.269_270insCCT (p.Ser90_Ala91insLeu) n.648_649insCCT | COSMIC COSMIC |
21 | g.34880642_34880643insCTTTTATTCCGATTCCCCTTGTCCGAAGGTAT | CA2580098645 | RUNX1 | c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142TyrfsTer14) c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala115TyrfsTer14) c.386_387insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala130TyrfsTer14) c.383_384insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala129TyrfsTer14) c.*12_*13insATACCTTCGGACAAGGGGAATCGGAATAAAAG (n.*12_*13insATACCTTCGGACAAGGGGAATCGGAATAAAAG) n.601_602insATACCTTCGGACAAGGGGAATCGGAATAAAAG c.269_270insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala91TyrfsTer14) n.648_649insATACCTTCGGACAAGGGGAATCGGAATAAAAG | ClinVar |
21 | g.34880643del | CA512318740 | RUNX1 | c.422del (p.Ser141TrpfsTer4) c.341del (p.Ser114TrpfsTer4) c.386del (p.Ser129TrpfsTer4) c.383del (p.Ser128TrpfsTer4) c.*12del (n.*12del) n.601del c.269del (p.Ser90TrpfsTer4) n.648del | COSMIC |
21 | g.34880643G>A | CA410202641 | RUNX1 | c.422C>T (p.Ser141Leu) c.341C>T (p.Ser114Leu) c.386C>T (p.Ser129Leu) c.383C>T (p.Ser128Leu) c.*12C>T (n.*12C>T) n.601C>T c.269C>T (p.Ser90Leu) n.648C>T | ClinVar dbSNP COSMIC COSMIC |
21 | g.34880643G>C | CA410202642 | RUNX1 | c.422C>G (p.Ser141Trp) c.341C>G (p.Ser114Trp) c.386C>G (p.Ser129Trp) c.383C>G (p.Ser128Trp) c.*12C>G (n.*12C>G) n.601C>G c.269C>G (p.Ser90Trp) n.648C>G | dbSNP |
21 | g.34880643G= | CA2387294352 | RUNX1 | c.422C= (p.Ser141=) c.341C= (p.Ser114=) c.386C= (p.Ser129=) c.383C= (p.Ser128=) c.*12C= (n.*12C=) n.601C= c.269C= (p.Ser90=) n.648C= | |
21 | g.34880643G>T | CA410202643 | RUNX1 | c.422C>A (p.Ser141Ter) c.341C>A (p.Ser114Ter) c.386C>A (p.Ser129Ter) c.383C>A (p.Ser128Ter) c.*12C>A (n.*12C>A) n.601C>A c.269C>A (p.Ser90Ter) n.648C>A | ClinVar dbSNP COSMIC COSMIC |
21 | g.34880643_34880644insCCTG | CA645607390 | RUNX1 | c.422_423insAGGC (p.Ala142GlyfsTer3) c.341_342insAGGC (p.Ala115GlyfsTer3) c.386_387insAGGC (p.Ala130GlyfsTer3) c.383_384insAGGC (p.Ala129GlyfsTer3) c.*12_*13insAGGC (n.*12_*13insAGGC) n.601_602insAGGC c.269_270insAGGC (p.Ala91GlyfsTer3) n.648_649insAGGC | COSMIC |
21 | g.34880643_34880644insGTTG | CA1139771069 | RUNX1 | c.422_423insAACC (p.Ala142ThrfsTer3) c.341_342insAACC (p.Ala115ThrfsTer3) c.386_387insAACC (p.Ala130ThrfsTer3) c.383_384insAACC (p.Ala129ThrfsTer3) c.*12_*13insAACC (n.*12_*13insAACC) n.601_602insAACC c.269_270insAACC (p.Ala91ThrfsTer3) n.648_649insAACC | |
21 | g.34880643_34880644insGCCTG | CA2573130354 | RUNX1 | c.422_423insAGGCC (p.Ala142GlyfsTer5) c.341_342insAGGCC (p.Ala115GlyfsTer5) c.386_387insAGGCC (p.Ala130GlyfsTer5) c.383_384insAGGCC (p.Ala129GlyfsTer5) c.*12_*13insAGGCC (n.*12_*13insAGGCC) n.601_602insAGGCC c.269_270insAGGCC (p.Ala91GlyfsTer5) n.648_649insAGGCC | |
21 | g.34880643_34880644insGCCTTG | CA658820618 | RUNX1 | c.422_423insAAGGCC (p.Ser141_Ala142insArgPro) c.341_342insAAGGCC (p.Ser114_Ala115insArgPro) c.386_387insAAGGCC (p.Ser129_Ala130insArgPro) c.383_384insAAGGCC (p.Ser128_Ala129insArgPro) c.*12_*13insAAGGCC (n.*12_*13insAAGGCC) n.601_602insAAGGCC c.269_270insAAGGCC (p.Ser90_Ala91insArgPro) n.648_649insAAGGCC | |
21 | g.34880643_34880644insGTCCAG | CA645607387 | RUNX1 | c.422_423insTGGACC (p.Ser141_Ala142insGlyPro) c.341_342insTGGACC (p.Ser114_Ala115insGlyPro) c.386_387insTGGACC (p.Ser129_Ala130insGlyPro) c.383_384insTGGACC (p.Ser128_Ala129insGlyPro) c.*12_*13insTGGACC (n.*12_*13insTGGACC) n.601_602insTGGACC c.269_270insTGGACC (p.Ser90_Ala91insGlyPro) n.648_649insTGGACC | COSMIC COSMIC |
21 | g.34880643dup | CA645607389 | RUNX1 | c.422dup (p.Ala142GlyfsTer2) c.341dup (p.Ala115GlyfsTer2) c.386dup (p.Ala130GlyfsTer2) c.383dup (p.Ala129GlyfsTer2) c.*12dup (n.*12dup) n.601dup c.269dup (p.Ala91GlyfsTer2) n.648dup | COSMIC |
21 | g.34880643_34880644insC | CA512318741 | RUNX1 | c.421_422insG (p.Ser141CysfsTer3) c.340_341insG (p.Ser114CysfsTer3) c.385_386insG (p.Ser129CysfsTer3) c.382_383insG (p.Ser128CysfsTer3) c.*11_*12insG (n.*11_*12insG) n.600_601insG c.268_269insG (p.Ser90CysfsTer3) n.647_648insG | |
21 | g.34880644A= | CA2387294353 | RUNX1 | c.421T= (p.Ser141=) c.340T= (p.Ser114=) c.385T= (p.Ser129=) c.382T= (p.Ser128=) c.*11T= (n.*11T=) n.600T= c.268T= (p.Ser90=) n.647T= | |
21 | g.34880644A>C | CA410202644 | RUNX1 | c.421T>G (p.Ser141Ala) c.340T>G (p.Ser114Ala) c.385T>G (p.Ser129Ala) c.382T>G (p.Ser128Ala) c.*11T>G (n.*11T>G) n.600T>G c.268T>G (p.Ser90Ala) n.647T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34880644A>G | CA410202645 | RUNX1 | c.421T>C (p.Ser141Pro) c.340T>C (p.Ser114Pro) c.385T>C (p.Ser129Pro) c.382T>C (p.Ser128Pro) c.*11T>C (n.*11T>C) n.600T>C c.268T>C (p.Ser90Pro) n.647T>C | ClinVar COSMIC |
21 | g.34880644A>T | CA410202646 | RUNX1 | c.421T>A (p.Ser141Thr) c.340T>A (p.Ser114Thr) c.385T>A (p.Ser129Thr) c.382T>A (p.Ser128Thr) c.*11T>A (n.*11T>A) n.600T>A c.268T>A (p.Ser90Thr) n.647T>A | dbSNP |
21 | g.34880644_34880645insACCA | CA1139771062 | RUNX1 | c.421_422insGGTT (p.Ser141TrpfsTer4) c.340_341insGGTT (p.Ser114TrpfsTer4) c.385_386insGGTT (p.Ser129TrpfsTer4) c.382_383insGGTT (p.Ser128TrpfsTer4) c.*11_*12insGGTT (n.*11_*12insGGTT) n.600_601insGGTT c.268_269insGGTT (p.Ser90TrpfsTer4) n.647_648insGGTT | |
21 | g.34880644_34880645insAACC | CA1139771061 | RUNX1 | c.420_421insGGTT (p.Ser141GlyfsTer4) c.339_340insGGTT (p.Ser114GlyfsTer4) c.384_385insGGTT (p.Ser129GlyfsTer4) c.381_382insGGTT (p.Ser128GlyfsTer4) c.*10_*11insGGTT (n.*10_*11insGGTT) n.599_600insGGTT c.267_268insGGTT (p.Ser90GlyfsTer4) n.646_647insGGTT | |
21 | g.34880645G>A | CA512318742 | RUNX1 | c.420C>T (p.Tyr140=) c.339C>T (p.Tyr113=) c.384C>T (p.Tyr128=) c.381C>T (p.Tyr127=) c.*10C>T (n.*10C>T) n.599C>T c.267C>T (p.Tyr89=) n.646C>T | dbSNP gnomAD v4 |
21 | g.34880645G>C | CA410202647 | RUNX1 | c.420C>G (p.Tyr140Ter) c.339C>G (p.Tyr113Ter) c.384C>G (p.Tyr128Ter) c.381C>G (p.Tyr127Ter) c.*10C>G (n.*10C>G) n.599C>G c.267C>G (p.Tyr89Ter) n.646C>G | dbSNP |
21 | g.34880645G>T | CA410202648 | RUNX1 | c.420C>A (p.Tyr140Ter) c.339C>A (p.Tyr113Ter) c.384C>A (p.Tyr128Ter) c.381C>A (p.Tyr127Ter) c.*10C>A (n.*10C>A) n.599C>A c.267C>A (p.Tyr89Ter) n.646C>A | |
21 | g.34880645_34880646del | CA645607392 | RUNX1 | c.419_420del (p.Tyr140PhefsTer3) c.338_339del (p.Tyr113PhefsTer3) c.383_384del (p.Tyr128PhefsTer3) c.380_381del (p.Tyr127PhefsTer3) c.*9_*10del (n.*9_*10del) n.598_599del c.266_267del (p.Tyr89PhefsTer3) n.645_646del | COSMIC COSMIC |
21 | g.34880645_34880646insA | CA2580611938 | RUNX1 | c.419_420insT (p.Ser141LeufsTer3) c.338_339insT (p.Ser114LeufsTer3) c.383_384insT (p.Ser129LeufsTer3) c.380_381insT (p.Ser128LeufsTer3) c.*9_*10insT (n.*9_*10insT) n.598_599insT c.266_267insT (p.Ser90LeufsTer3) n.645_646insT | |
21 | g.34880646T>A | CA410202649 | RUNX1 | c.419A>T (p.Tyr140Phe) c.338A>T (p.Tyr113Phe) c.383A>T (p.Tyr128Phe) c.380A>T (p.Tyr127Phe) c.*9A>T (n.*9A>T) n.598A>T c.266A>T (p.Tyr89Phe) n.645A>T | dbSNP |
21 | g.34880646T>C | CA410202650 | RUNX1 | c.419A>G (p.Tyr140Cys) c.338A>G (p.Tyr113Cys) c.383A>G (p.Tyr128Cys) c.380A>G (p.Tyr127Cys) c.*9A>G (n.*9A>G) n.598A>G c.266A>G (p.Tyr89Cys) n.645A>G | dbSNP |
21 | g.34880646T>G | CA410202651 | RUNX1 | c.419A>C (p.Tyr140Ser) c.338A>C (p.Tyr113Ser) c.383A>C (p.Tyr128Ser) c.380A>C (p.Tyr127Ser) c.*9A>C (n.*9A>C) n.598A>C c.266A>C (p.Tyr89Ser) n.645A>C | dbSNP |
21 | g.34880646T= | CA2387294354 | RUNX1 | c.419A= (p.Tyr140=) c.338A= (p.Tyr113=) c.383A= (p.Tyr128=) c.380A= (p.Tyr127=) c.*9A= (n.*9A=) n.598A= c.266A= (p.Tyr89=) n.645A= | |
21 | g.34880646_34880668dup | CA645607393 | RUNX1 | c.397_419dup (p.Tyr140Ter) c.316_338dup (p.Tyr113Ter) c.361_383dup (p.Tyr128Ter) c.358_380dup (p.Tyr127Ter) c.104_*9dup (n.104_*9dup) n.576_598dup c.244_266dup (p.Tyr89Ter) n.623_645dup | COSMIC |
21 | g.34880647A>C | CA410202652 | RUNX1 | c.418T>G (p.Tyr140Asp) c.337T>G (p.Tyr113Asp) c.382T>G (p.Tyr128Asp) c.379T>G (p.Tyr127Asp) c.*8T>G (n.*8T>G) n.597T>G c.265T>G (p.Tyr89Asp) n.644T>G | |
21 | g.34880647A>G | CA410202653 | RUNX1 | c.418T>C (p.Tyr140His) c.337T>C (p.Tyr113His) c.382T>C (p.Tyr128His) c.379T>C (p.Tyr127His) c.*8T>C (n.*8T>C) n.597T>C c.265T>C (p.Tyr89His) n.644T>C | ClinVar |
21 | g.34880647A>T | CA410202654 | RUNX1 | c.418T>A (p.Tyr140Asn) c.337T>A (p.Tyr113Asn) c.382T>A (p.Tyr128Asn) c.379T>A (p.Tyr127Asn) c.*8T>A (n.*8T>A) n.597T>A c.265T>A (p.Tyr89Asn) n.644T>A | dbSNP |
21 | g.34880647dup | CA645607394 | RUNX1 | c.418dup (p.Tyr140LeufsTer4) c.337dup (p.Tyr113LeufsTer4) c.382dup (p.Tyr128LeufsTer4) c.379dup (p.Tyr127LeufsTer4) c.*8dup (n.*8dup) n.597dup c.265dup (p.Tyr89LeufsTer4) n.644dup | COSMIC |
21 | g.34880647_34880709dup | CA891842373 | RUNX1 | c.356_418dup (p.Asn139_Tyr140insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn) c.275_337dup (p.Asn112_Tyr113insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn) c.320_382dup (p.Asn127_Tyr128insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn) c.317_379dup (p.Asn126_Tyr127insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn) c.63_*8dup (n.63_*8dup) n.535_597dup c.203_265dup (p.Asn88_Tyr89insLeuAlaLeuGlyAspValProAspGlyThrLeuValThrValMetAlaGlyAsnAspGluAsn) n.582_644dup | |
21 | g.34880648G>A | CA512318743 | RUNX1 | c.417C>T (p.Asn139=) c.336C>T (p.Asn112=) c.381C>T (p.Asn127=) c.378C>T (p.Asn126=) c.*7C>T (n.*7C>T) n.596C>T c.264C>T (p.Asn88=) n.643C>T | dbSNP |
21 | g.34880648G>C | CA410202655 | RUNX1 | c.417C>G (p.Asn139Lys) c.336C>G (p.Asn112Lys) c.381C>G (p.Asn127Lys) c.378C>G (p.Asn126Lys) c.*7C>G (n.*7C>G) n.596C>G c.264C>G (p.Asn88Lys) n.643C>G | dbSNP COSMIC COSMIC |
21 | g.34880648G>T | CA410202656 | RUNX1 | c.417C>A (p.Asn139Lys) c.336C>A (p.Asn112Lys) c.381C>A (p.Asn127Lys) c.378C>A (p.Asn126Lys) c.*7C>A (n.*7C>A) n.596C>A c.264C>A (p.Asn88Lys) n.643C>A | |
21 | g.34880648_34880660del | CA2695230130 | RUNX1 | c.405_417del (p.Asn136ThrfsTer5) c.324_336del (p.Asn109ThrfsTer5) c.369_381del (p.Asn124ThrfsTer5) c.366_378del (p.Asn123ThrfsTer5) c.112_*7del (n.[c.112_*7del;Gln38TyrfsTer?]) n.584_596del c.252_264del (p.Asn85ThrfsTer5) n.631_643del | |
21 | g.34880649T>A | CA410202657 | RUNX1 | c.416A>T (p.Asn139Ile) c.335A>T (p.Asn112Ile) c.380A>T (p.Asn127Ile) c.377A>T (p.Asn126Ile) c.*6A>T (n.*6A>T) n.595A>T c.263A>T (p.Asn88Ile) n.642A>T | dbSNP |
21 | g.34880649T>C | CA410202658 | RUNX1 | c.416A>G (p.Asn139Ser) c.335A>G (p.Asn112Ser) c.380A>G (p.Asn127Ser) c.377A>G (p.Asn126Ser) c.*6A>G (n.*6A>G) n.595A>G c.263A>G (p.Asn88Ser) n.642A>G | COSMIC COSMIC |
21 | g.34880649T>G | CA410202659 | RUNX1 | c.416A>C (p.Asn139Thr) c.335A>C (p.Asn112Thr) c.380A>C (p.Asn127Thr) c.377A>C (p.Asn126Thr) c.*6A>C (n.*6A>C) n.595A>C c.263A>C (p.Asn88Thr) n.642A>C | COSMIC COSMIC |
21 | g.34880652dup | CA645607395 | RUNX1 | c.416dup (p.Asn139LysfsTer5) c.335dup (p.Asn112LysfsTer5) c.380dup (p.Asn127LysfsTer5) c.377dup (p.Asn126LysfsTer5) c.*6dup (n.*6dup) n.595dup c.263dup (p.Asn88LysfsTer5) n.642dup | COSMIC |
21 | g.34880652del | CA2695202506 | RUNX1 | c.416del (p.Asn139ThrfsTer6) c.335del (p.Asn112ThrfsTer6) c.380del (p.Asn127ThrfsTer6) c.377del (p.Asn126ThrfsTer6) c.*6del (n.*6del) n.595del c.263del (p.Asn88ThrfsTer6) n.642del | |
21 | g.34880650T>A | CA410202661 | RUNX1 | c.415A>T (p.Asn139Tyr) c.334A>T (p.Asn112Tyr) c.379A>T (p.Asn127Tyr) c.376A>T (p.Asn126Tyr) c.*5A>T (n.*5A>T) n.594A>T c.262A>T (p.Asn88Tyr) n.641A>T | dbSNP |
21 | g.34880650T>C | CA410202662 | RUNX1 | c.415A>G (p.Asn139Asp) c.334A>G (p.Asn112Asp) c.379A>G (p.Asn127Asp) c.376A>G (p.Asn126Asp) c.*5A>G (n.*5A>G) n.594A>G c.262A>G (p.Asn88Asp) n.641A>G | ClinVar dbSNP |
21 | g.34880650T>G | CA410202660 | RUNX1 | c.415A>C (p.Asn139His) c.334A>C (p.Asn112His) c.379A>C (p.Asn127His) c.376A>C (p.Asn126His) c.*5A>C (n.*5A>C) n.594A>C c.262A>C (p.Asn88His) n.641A>C | dbSNP |
21 | g.34880651T>A | CA320638000 | RUNX1 | c.414A>T (p.Glu138Asp) c.333A>T (p.Glu111Asp) c.378A>T (p.Glu126Asp) c.375A>T (p.Glu125Asp) c.*4A>T (n.*4A>T) n.593A>T c.261A>T (p.Glu87Asp) n.640A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34880651T>C | CA512318744 | RUNX1 | c.414A>G (p.Glu138=) c.333A>G (p.Glu111=) c.378A>G (p.Glu126=) c.375A>G (p.Glu125=) c.*4A>G (n.*4A>G) n.593A>G c.261A>G (p.Glu87=) n.640A>G | dbSNP |
21 | g.34880651T>G | CA10014520 | RUNX1 | c.414A>C (p.Glu138Asp) c.333A>C (p.Glu111Asp) c.378A>C (p.Glu126Asp) c.375A>C (p.Glu125Asp) c.*4A>C (n.*4A>C) n.593A>C c.261A>C (p.Glu87Asp) n.640A>C | ClinVar dbSNP ExAC gnomAD v4 |
21 | g.34880651T= | CA2387294355 | RUNX1 | c.414A= (p.Glu138=) c.333A= (p.Glu111=) c.378A= (p.Glu126=) c.375A= (p.Glu125=) c.*4A= (n.*4A=) n.593A= c.261A= (p.Glu87=) n.640A= | |
21 | g.34880652T>A | CA410202663 | RUNX1 | c.413A>T (p.Glu138Val) c.332A>T (p.Glu111Val) c.377A>T (p.Glu126Val) c.374A>T (p.Glu125Val) c.*3A>T (n.*3A>T) n.592A>T c.260A>T (p.Glu87Val) n.639A>T | dbSNP |
21 | g.34880652T>C | CA410202664 | RUNX1 | c.413A>G (p.Glu138Gly) c.332A>G (p.Glu111Gly) c.377A>G (p.Glu126Gly) c.374A>G (p.Glu125Gly) c.*3A>G (n.*3A>G) n.592A>G c.260A>G (p.Glu87Gly) n.639A>G | dbSNP COSMIC COSMIC |
21 | g.34880652T>G | CA410202665 | RUNX1 | c.413A>C (p.Glu138Ala) c.332A>C (p.Glu111Ala) c.377A>C (p.Glu126Ala) c.374A>C (p.Glu125Ala) c.*3A>C (n.*3A>C) n.592A>C c.260A>C (p.Glu87Ala) n.639A>C | |
21 | g.34880653C>A | CA410202668 | RUNX1 | c.412G>T (p.Glu138Ter) c.331G>T (p.Glu111Ter) c.376G>T (p.Glu126Ter) c.373G>T (p.Glu125Ter) c.*2G>T (n.*2G>T) n.591G>T c.259G>T (p.Glu87Ter) n.638G>T | |
21 | g.34880653C= | CA2387294356 | RUNX1 | c.412G= (p.Glu138=) c.331G= (p.Glu111=) c.376G= (p.Glu126=) c.373G= (p.Glu125=) c.*2G= (n.*2G=) n.591G= c.259G= (p.Glu87=) n.638G= | |
21 | g.34880653C>G | CA410202666 | RUNX1 | c.412G>C (p.Glu138Gln) c.331G>C (p.Glu111Gln) c.376G>C (p.Glu126Gln) c.373G>C (p.Glu125Gln) c.*2G>C (n.*2G>C) n.591G>C c.259G>C (p.Glu87Gln) n.638G>C | dbSNP |
21 | g.34880653C>T | CA410202667 | RUNX1 | c.412G>A (p.Glu138Lys) c.331G>A (p.Glu111Lys) c.376G>A (p.Glu126Lys) c.373G>A (p.Glu125Lys) c.*2G>A (n.*2G>A) n.591G>A c.259G>A (p.Glu87Lys) n.638G>A | ClinVar dbSNP COSMIC COSMIC |
21 | g.34880654A>C | CA410202669 | RUNX1 | c.411T>G (p.Asp137Glu) c.330T>G (p.Asp110Glu) c.375T>G (p.Asp125Glu) c.372T>G (p.Asp124Glu) c.*1T>G (n.*1T>G) n.590T>G c.258T>G (p.Asp86Glu) n.637T>G | dbSNP |
21 | g.34880654A>G | CA512318745 | RUNX1 | c.411T>C (p.Asp137=) c.330T>C (p.Asp110=) c.375T>C (p.Asp125=) c.372T>C (p.Asp124=) c.*1T>C (n.*1T>C) n.590T>C c.258T>C (p.Asp86=) n.637T>C | dbSNP |
21 | g.34880654A>T | CA410202670 | RUNX1 | c.411T>A (p.Asp137Glu) c.330T>A (p.Asp110Glu) c.375T>A (p.Asp125Glu) c.372T>A (p.Asp124Glu) c.*1T>A (n.*1T>A) n.590T>A c.258T>A (p.Asp86Glu) n.637T>A | dbSNP |
21 | g.34880654dup | CA2739267616 | RUNX1 | c.411dup (p.Glu138Ter) c.330dup (p.Glu111Ter) c.375dup (p.Glu126Ter) c.372dup (p.Glu125Ter) c.*1dup (n.*1dup) n.590dup c.258dup (p.Glu87Ter) n.637dup | ClinVar |
21 | g.34880655T>A | CA410202671 | RUNX1 | c.410A>T (p.Asp137Val) c.329A>T (p.Asp110Val) c.374A>T (p.Asp125Val) c.371A>T (p.Asp124Val) c.117A>T (p.Ter39Cys) n.589A>T c.257A>T (p.Asp86Val) n.636A>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34880655T>C | CA410202672 | RUNX1 | c.410A>G (p.Asp137Gly) c.329A>G (p.Asp110Gly) c.374A>G (p.Asp125Gly) c.371A>G (p.Asp124Gly) c.117A>G (p.Ter39Trp) n.589A>G c.257A>G (p.Asp86Gly) n.636A>G | |
21 | g.34880655T>G | CA410202673 | RUNX1 | c.410A>C (p.Asp137Ala) c.329A>C (p.Asp110Ala) c.374A>C (p.Asp125Ala) c.371A>C (p.Asp124Ala) c.117A>C (p.Ter39Cys) n.589A>C c.257A>C (p.Asp86Ala) n.636A>C | |
21 | g.34880655T= | CA2387294357 | RUNX1 | c.410A= (p.Asp137=) c.329A= (p.Asp110=) c.374A= (p.Asp125=) c.371A= (p.Asp124=) c.117A= (p.Ter39=) n.589A= c.257A= (p.Asp86=) n.636A= | |
21 | g.34880656C>A | CA410202674 | RUNX1 | c.409G>T (p.Asp137Tyr) c.328G>T (p.Asp110Tyr) c.373G>T (p.Asp125Tyr) c.370G>T (p.Asp124Tyr) c.116G>T (p.Ter39Leu) n.588G>T c.256G>T (p.Asp86Tyr) n.635G>T | |
21 | g.34880656C= | CA2387294358 | RUNX1 | c.409G= (p.Asp137=) c.328G= (p.Asp110=) c.373G= (p.Asp125=) c.370G= (p.Asp124=) c.116G= (p.Ter39=) n.588G= c.256G= (p.Asp86=) n.635G= | |
21 | g.34880656C>G | CA410202675 | RUNX1 | c.409G>C (p.Asp137His) c.328G>C (p.Asp110His) c.373G>C (p.Asp125His) c.370G>C (p.Asp124His) c.116G>C (p.Ter39Ser) n.588G>C c.256G>C (p.Asp86His) n.635G>C | dbSNP |
21 | g.34880656C>T | CA10014521 | RUNX1 | c.409G>A (p.Asp137Asn) c.328G>A (p.Asp110Asn) c.373G>A (p.Asp125Asn) c.370G>A (p.Asp124Asn) c.116G>A (p.Ter39=) n.588G>A c.256G>A (p.Asp86Asn) n.635G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
21 | g.34880657A= | CA2387294359 | RUNX1 | c.408T= (p.Asn136=) c.327T= (p.Asn109=) c.372T= (p.Asn124=) c.369T= (p.Asn123=) c.115T= (p.Ter39=) n.587T= c.255T= (p.Asn85=) n.634T= | |
21 | g.34880657A>C | CA410202676 | RUNX1 | c.408T>G (p.Asn136Lys) c.327T>G (p.Asn109Lys) c.372T>G (p.Asn124Lys) c.369T>G (p.Asn123Lys) c.115T>G (p.Ter39Gly) n.587T>G c.255T>G (p.Asn85Lys) n.634T>G | dbSNP |
21 | g.34880657A>G | CA512318746 | RUNX1 | c.408T>C (p.Asn136=) c.327T>C (p.Asn109=) c.372T>C (p.Asn124=) c.369T>C (p.Asn123=) c.115T>C (p.Ter39Arg) n.587T>C c.255T>C (p.Asn85=) n.634T>C | dbSNP |
21 | g.34880657A>T | CA410202677 | RUNX1 | c.408T>A (p.Asn136Lys) c.327T>A (p.Asn109Lys) c.372T>A (p.Asn124Lys) c.369T>A (p.Asn123Lys) c.115T>A (p.Ter39Arg) n.587T>A c.255T>A (p.Asn85Lys) n.634T>A | ClinVar dbSNP |
21 | g.34880658T>A | CA410202678 | RUNX1 | c.407A>T (p.Asn136Ile) c.326A>T (p.Asn109Ile) c.371A>T (p.Asn124Ile) c.368A>T (p.Asn123Ile) c.114A>T (p.Gln38His) n.586A>T c.254A>T (p.Asn85Ile) n.633A>T | ClinVar dbSNP |
21 | g.34880658T>C | CA410202679 | RUNX1 | c.407A>G (p.Asn136Ser) c.326A>G (p.Asn109Ser) c.371A>G (p.Asn124Ser) c.368A>G (p.Asn123Ser) c.114A>G (p.Gln38=) n.586A>G c.254A>G (p.Asn85Ser) n.633A>G | |
21 | g.34880658T>G | CA410202680 | RUNX1 | c.407A>C (p.Asn136Thr) c.326A>C (p.Asn109Thr) c.371A>C (p.Asn124Thr) c.368A>C (p.Asn123Thr) c.114A>C (p.Gln38His) n.586A>C c.254A>C (p.Asn85Thr) n.633A>C | |
21 | g.34880658_34880659insGGTCACT | CA645607396 | RUNX1 | c.407_408insGTGACCA (p.Asn136LysfsTer2) c.326_327insGTGACCA (p.Asn109LysfsTer2) c.371_372insGTGACCA (p.Asn124LysfsTer2) c.368_369insGTGACCA (p.Asn123LysfsTer2) c.114_115insGTGACCA (p.Ter39ValextTer11) n.586_587insGTGACCA c.254_255insGTGACCA (p.Asn85LysfsTer2) n.633_634insGTGACCA | COSMIC |
21 | g.34880659T>A | CA410202681 | RUNX1 | c.406A>T (p.Asn136Tyr) c.325A>T (p.Asn109Tyr) c.370A>T (p.Asn124Tyr) c.367A>T (p.Asn123Tyr) c.113A>T (p.Gln38Leu) n.585A>T c.253A>T (p.Asn85Tyr) n.632A>T | |
21 | g.34880659T>C | CA410202682 | RUNX1 | c.406A>G (p.Asn136Asp) c.325A>G (p.Asn109Asp) c.370A>G (p.Asn124Asp) c.367A>G (p.Asn123Asp) c.113A>G (p.Gln38Arg) n.585A>G c.253A>G (p.Asn85Asp) n.632A>G | |
21 | g.34880659T>G | CA410202683 | RUNX1 | c.406A>C (p.Asn136His) c.325A>C (p.Asn109His) c.370A>C (p.Asn124His) c.367A>C (p.Asn123His) c.113A>C (p.Gln38Pro) n.585A>C c.253A>C (p.Asn85His) n.632A>C | |
21 | g.34880660G>A | CA512318749 | RUNX1 | c.405C>T (p.Gly135=) c.324C>T (p.Gly108=) c.369C>T (p.Gly123=) c.366C>T (p.Gly122=) c.112C>T (p.Gln38Ter) n.584C>T c.252C>T (p.Gly84=) n.631C>T | dbSNP |
21 | g.34880660G>C | CA512318747 | RUNX1 | c.405C>G (p.Gly135=) c.324C>G (p.Gly108=) c.369C>G (p.Gly123=) c.366C>G (p.Gly122=) c.112C>G (p.Gln38Glu) n.584C>G c.252C>G (p.Gly84=) n.631C>G | |
21 | g.34880660G>T | CA512318748 | RUNX1 | c.405C>A (p.Gly135=) c.324C>A (p.Gly108=) c.369C>A (p.Gly123=) c.366C>A (p.Gly122=) c.112C>A (p.Gln38Lys) n.584C>A c.252C>A (p.Gly84=) n.631C>A | |
21 | g.34880661C>A | CA410202684 | RUNX1 | c.404G>T (p.Gly135Val) c.323G>T (p.Gly108Val) c.368G>T (p.Gly123Val) c.365G>T (p.Gly122Val) c.111G>T (p.Trp37Cys) n.583G>T c.251G>T (p.Gly84Val) n.630G>T | dbSNP |
21 | g.34880661C>G | CA410202685 | RUNX1 | c.404G>C (p.Gly135Ala) c.323G>C (p.Gly108Ala) c.368G>C (p.Gly123Ala) c.365G>C (p.Gly122Ala) c.111G>C (p.Trp37Cys) n.583G>C c.251G>C (p.Gly84Ala) n.630G>C | dbSNP |
21 | g.34880661C>T | CA410202686 | RUNX1 | c.404G>A (p.Gly135Asp) c.323G>A (p.Gly108Asp) c.368G>A (p.Gly123Asp) c.365G>A (p.Gly122Asp) c.111G>A (p.Trp37Ter) n.583G>A c.251G>A (p.Gly84Asp) n.630G>A | dbSNP COSMIC COSMIC |
21 | g.34880661_34880662insA | CA645607397 | RUNX1 | c.403_404insT (p.Gly135ValfsTer3) c.322_323insT (p.Gly108ValfsTer3) c.367_368insT (p.Gly123ValfsTer3) c.364_365insT (p.Gly122ValfsTer3) c.110_111insT (p.Trp37CysfsTer11) n.582_583insT c.250_251insT (p.Gly84ValfsTer3) n.629_630insT | COSMIC COSMIC |
21 | g.34880662C>A | CA410202689 | RUNX1 | c.403G>T (p.Gly135Cys) c.322G>T (p.Gly108Cys) c.367G>T (p.Gly123Cys) c.364G>T (p.Gly122Cys) c.110G>T (p.Trp37Leu) n.582G>T c.250G>T (p.Gly84Cys) n.629G>T | |
21 | g.34880662C= | CA2387294360 | RUNX1 | c.403G= (p.Gly135=) c.322G= (p.Gly108=) c.367G= (p.Gly123=) c.364G= (p.Gly122=) c.110G= (p.Trp37=) n.582G= c.250G= (p.Gly84=) n.629G= | |
21 | g.34880662C>G | CA410202688 | RUNX1 | c.403G>C (p.Gly135Arg) c.322G>C (p.Gly108Arg) c.367G>C (p.Gly123Arg) c.364G>C (p.Gly122Arg) c.110G>C (p.Trp37Ser) n.582G>C c.250G>C (p.Gly84Arg) n.629G>C | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34880662C>T | CA410202687 | RUNX1 | c.403G>A (p.Gly135Ser) c.322G>A (p.Gly108Ser) c.367G>A (p.Gly123Ser) c.364G>A (p.Gly122Ser) c.110G>A (p.Trp37Ter) n.582G>A c.250G>A (p.Gly84Ser) n.629G>A | ClinVar dbSNP |
21 | g.34880663A= | CA2387294361 | RUNX1 | c.402T= (p.Ala134=) c.321T= (p.Ala107=) c.366T= (p.Ala122=) c.363T= (p.Ala121=) c.109T= (p.Trp37=) n.581T= c.249T= (p.Ala83=) n.628T= | |
21 | g.34880663A>C | CA512318750 | RUNX1 | c.402T>G (p.Ala134=) c.321T>G (p.Ala107=) c.366T>G (p.Ala122=) c.363T>G (p.Ala121=) c.109T>G (p.Trp37Gly) n.581T>G c.249T>G (p.Ala83=) n.628T>G | |
21 | g.34880663A>G | CA512318752 | RUNX1 | c.402T>C (p.Ala134=) c.321T>C (p.Ala107=) c.366T>C (p.Ala122=) c.363T>C (p.Ala121=) c.109T>C (p.Trp37Arg) n.581T>C c.249T>C (p.Ala83=) n.628T>C | ClinVar dbSNP |
21 | g.34880663A>T | CA512318751 | RUNX1 | c.402T>A (p.Ala134=) c.321T>A (p.Ala107=) c.366T>A (p.Ala122=) c.363T>A (p.Ala121=) c.109T>A (p.Trp37Arg) n.581T>A c.249T>A (p.Ala83=) n.628T>A | dbSNP |
21 | g.34880664G>A | CA410202690 | RUNX1 | c.401C>T (p.Ala134Val) c.320C>T (p.Ala107Val) c.365C>T (p.Ala122Val) c.362C>T (p.Ala121Val) c.108C>T (p.Gly36=) n.580C>T c.248C>T (p.Ala83Val) n.627C>T | ClinVar dbSNP |
21 | g.34880664G>C | CA410202692 | RUNX1 | c.401C>G (p.Ala134Gly) c.320C>G (p.Ala107Gly) c.365C>G (p.Ala122Gly) c.362C>G (p.Ala121Gly) c.108C>G (p.Gly36=) n.580C>G c.248C>G (p.Ala83Gly) n.627C>G | dbSNP |
21 | g.34880664G>T | CA410202691 | RUNX1 | c.401C>A (p.Ala134Asp) c.320C>A (p.Ala107Asp) c.365C>A (p.Ala122Asp) c.362C>A (p.Ala121Asp) c.108C>A (p.Gly36=) n.580C>A c.248C>A (p.Ala83Asp) n.627C>A | COSMIC |
21 | g.34880665C>A | CA410202693 | RUNX1 | c.400G>T (p.Ala134Ser) c.319G>T (p.Ala107Ser) c.364G>T (p.Ala122Ser) c.361G>T (p.Ala121Ser) c.107G>T (p.Gly36Val) n.579G>T c.247G>T (p.Ala83Ser) n.626G>T | dbSNP |
21 | g.34880665C= | CA2387294362 | RUNX1 | c.400G= (p.Ala134=) c.319G= (p.Ala107=) c.364G= (p.Ala122=) c.361G= (p.Ala121=) c.107G= (p.Gly36=) n.579G= c.247G= (p.Ala83=) n.626G= | |
21 | g.34880665C>G | CA248623 | RUNX1 | c.400G>C (p.Ala134Pro) c.319G>C (p.Ala107Pro) c.364G>C (p.Ala122Pro) c.361G>C (p.Ala121Pro) c.107G>C (p.Gly36Ala) n.579G>C c.247G>C (p.Ala83Pro) n.626G>C | ClinVar dbSNP COSMIC COSMIC |
21 | g.34880665C>T | CA410202694 | RUNX1 | c.400G>A (p.Ala134Thr) c.319G>A (p.Ala107Thr) c.364G>A (p.Ala122Thr) c.361G>A (p.Ala121Thr) c.107G>A (p.Gly36Asp) n.579G>A c.247G>A (p.Ala83Thr) n.626G>A | dbSNP |
21 | g.34880666del | CA512318753 | RUNX1 | c.400del (p.Ala134LeufsTer11) c.319del (p.Ala107LeufsTer11) c.364del (p.Ala122LeufsTer11) c.361del (p.Ala121LeufsTer11) c.107del (p.Gly36AlafsTer?) n.579del c.247del (p.Ala83LeufsTer11) n.626del | COSMIC |
21 | g.34880666C>A | CA410202695 | RUNX1 | c.399G>T (p.Met133Ile) c.318G>T (p.Met106Ile) c.363G>T (p.Met121Ile) c.360G>T (p.Met120Ile) c.106G>T (p.Gly36Cys) n.578G>T c.246G>T (p.Met82Ile) n.625G>T | |
21 | g.34880666C= | CA2387294363 | RUNX1 | c.399G= (p.Met133=) c.318G= (p.Met106=) c.363G= (p.Met121=) c.360G= (p.Met120=) c.106G= (p.Gly36=) n.578G= c.246G= (p.Met82=) n.625G= | |
21 | g.34880666C>G | CA410202696 | RUNX1 | c.399G>C (p.Met133Ile) c.318G>C (p.Met106Ile) c.363G>C (p.Met121Ile) c.360G>C (p.Met120Ile) c.106G>C (p.Gly36Arg) n.578G>C c.246G>C (p.Met82Ile) n.625G>C | |
21 | g.34880666C>T | CA410202697 | RUNX1 | c.399G>A (p.Met133Ile) c.318G>A (p.Met106Ile) c.363G>A (p.Met121Ile) c.360G>A (p.Met120Ile) c.106G>A (p.Gly36Ser) n.578G>A c.246G>A (p.Met82Ile) n.625G>A | dbSNP gnomAD v3 gnomAD v4 |
21 | g.34880666_34880667dup | CA645607398 | RUNX1 | c.398_399dup (p.Ala134TrpfsTer12) c.317_318dup (p.Ala107TrpfsTer12) c.362_363dup (p.Ala122TrpfsTer12) c.359_360dup (p.Ala121TrpfsTer12) c.105_106dup (p.Gly36ValfsTer?) n.577_578dup c.245_246dup (p.Ala83TrpfsTer12) n.624_625dup | COSMIC COSMIC |
21 | g.34880667del | CA891842374 | RUNX1 | c.398del (p.Met133ArgfsTer12) c.317del (p.Met106ArgfsTer12) c.362del (p.Met121ArgfsTer12) c.359del (p.Met120ArgfsTer12) c.105del (p.Asp35GlufsTer?) n.577del c.245del (p.Met82ArgfsTer12) n.624del | |
21 | g.34880667A>C | CA410202698 | RUNX1 | c.398T>G (p.Met133Arg) c.317T>G (p.Met106Arg) c.362T>G (p.Met121Arg) c.359T>G (p.Met120Arg) c.105T>G (p.Asp35Glu) n.577T>G c.245T>G (p.Met82Arg) n.624T>G | dbSNP |
21 | g.34880667A>G | CA410202699 | RUNX1 | c.398T>C (p.Met133Thr) c.317T>C (p.Met106Thr) c.362T>C (p.Met121Thr) c.359T>C (p.Met120Thr) c.105T>C (p.Asp35=) n.577T>C c.245T>C (p.Met82Thr) n.624T>C | |
21 | g.34880667A>T | CA410202700 | RUNX1 | c.398T>A (p.Met133Lys) c.317T>A (p.Met106Lys) c.362T>A (p.Met121Lys) c.359T>A (p.Met120Lys) c.105T>A (p.Asp35Glu) n.577T>A c.245T>A (p.Met82Lys) n.624T>A | dbSNP |
21 | g.34880668T>A | CA410202701 | RUNX1 | c.397A>T (p.Met133Leu) c.316A>T (p.Met106Leu) c.361A>T (p.Met121Leu) c.358A>T (p.Met120Leu) c.104A>T (p.Asp35Val) n.576A>T c.244A>T (p.Met82Leu) n.623A>T | dbSNP |
21 | g.34880668T>C | CA410202702 | RUNX1 | c.397A>G (p.Met133Val) c.316A>G (p.Met106Val) c.361A>G (p.Met121Val) c.358A>G (p.Met120Val) c.104A>G (p.Asp35Gly) n.576A>G c.244A>G (p.Met82Val) n.623A>G | ClinVar gnomAD v4 |
21 | g.34880668T>G | CA410202703 | RUNX1 | c.397A>C (p.Met133Leu) c.316A>C (p.Met106Leu) c.361A>C (p.Met121Leu) c.358A>C (p.Met120Leu) c.104A>C (p.Asp35Ala) n.576A>C c.244A>C (p.Met82Leu) n.623A>C | |
21 | g.34880669C>A | CA512318754 | RUNX1 | c.396G>T (p.Val132=) c.315G>T (p.Val105=) c.360G>T (p.Val120=) c.357G>T (p.Val119=) c.103G>T (p.Asp35Tyr) n.575G>T c.243G>T (p.Val81=) n.622G>T | dbSNP |
21 | g.34880669C>G | CA512318756 | RUNX1 | c.396G>C (p.Val132=) c.315G>C (p.Val105=) c.360G>C (p.Val120=) c.357G>C (p.Val119=) c.103G>C (p.Asp35His) n.575G>C c.243G>C (p.Val81=) n.622G>C | dbSNP |
21 | g.34880669C>T | CA512318755 | RUNX1 | c.396G>A (p.Val132=) c.315G>A (p.Val105=) c.360G>A (p.Val120=) c.357G>A (p.Val119=) c.103G>A (p.Asp35Asn) n.575G>A c.243G>A (p.Val81=) n.622G>A | dbSNP |
21 | g.34880671_34880672del | CA645607399 | RUNX1 | c.395_396del (p.Val132AspfsTer5) c.314_315del (p.Val105AspfsTer5) c.359_360del (p.Val120AspfsTer5) c.356_357del (p.Val119AspfsTer5) c.102_103del (p.Cys34Ter) n.574_575del c.242_243del (p.Val81AspfsTer5) n.621_622del | COSMIC |
21 | g.34880670del | CA2573049020 | RUNX1 | c.395del (p.Val132GlyfsTer13) c.314del (p.Val105GlyfsTer13) c.359del (p.Val120GlyfsTer13) c.356del (p.Val119GlyfsTer13) c.102del (p.Cys34TrpfsTer?) n.574del c.242del (p.Val81GlyfsTer13) n.621del | |
21 | g.34880670A>C | CA410202704 | RUNX1 | c.395T>G (p.Val132Gly) c.314T>G (p.Val105Gly) c.359T>G (p.Val120Gly) c.356T>G (p.Val119Gly) c.102T>G (p.Cys34Trp) n.574T>G c.242T>G (p.Val81Gly) n.621T>G | dbSNP |
21 | g.34880670A>G | CA410202706 | RUNX1 | c.395T>C (p.Val132Ala) c.314T>C (p.Val105Ala) c.359T>C (p.Val120Ala) c.356T>C (p.Val119Ala) c.102T>C (p.Cys34=) n.574T>C c.242T>C (p.Val81Ala) n.621T>C | |
21 | g.34880670A>T | CA410202705 | RUNX1 | c.395T>A (p.Val132Glu) c.314T>A (p.Val105Glu) c.359T>A (p.Val120Glu) c.356T>A (p.Val119Glu) c.102T>A (p.Cys34Ter) n.574T>A c.242T>A (p.Val81Glu) n.621T>A | dbSNP |
21 | g.34880670dup | CA645607400 | RUNX1 | c.395dup (p.Met133AspfsTer5) c.314dup (p.Met106AspfsTer5) c.359dup (p.Met121AspfsTer5) c.356dup (p.Met120AspfsTer5) c.102dup (p.Asp35Ter) n.574dup c.242dup (p.Met82AspfsTer5) n.621dup | COSMIC |
21 | g.34880671_34880681del | CA2580098648 | RUNX1 | c.385_395del (p.Leu129AspfsTer5) c.304_314del (p.Leu102AspfsTer5) c.349_359del (p.Leu117AspfsTer5) c.346_356del (p.Leu116AspfsTer5) c.92_102del (p.Ser31Ter) n.564_574del c.232_242del (p.Leu78AspfsTer5) n.611_621del | ClinVar |
21 | g.34880670_34880671insT | CA512318757 | RUNX1 | c.394_395insA (p.Val132AspfsTer6) c.313_314insA (p.Val105AspfsTer6) c.358_359insA (p.Val120AspfsTer6) c.355_356insA (p.Val119AspfsTer6) c.101_102insA (p.Cys34Ter) n.573_574insA c.241_242insA (p.Val81AspfsTer6) n.620_621insA | |
21 | g.34880671C>A | CA410202707 | RUNX1 | c.394G>T (p.Val132Leu) c.313G>T (p.Val105Leu) c.358G>T (p.Val120Leu) c.355G>T (p.Val119Leu) c.101G>T (p.Cys34Phe) n.573G>T c.241G>T (p.Val81Leu) n.620G>T | dbSNP |
21 | g.34880671C>G | CA410202708 | RUNX1 | c.394G>C (p.Val132Leu) c.313G>C (p.Val105Leu) c.358G>C (p.Val120Leu) c.355G>C (p.Val119Leu) c.101G>C (p.Cys34Ser) n.573G>C c.241G>C (p.Val81Leu) n.620G>C | dbSNP |
21 | g.34880671C>T | CA410202709 | RUNX1 | c.394G>A (p.Val132Met) c.313G>A (p.Val105Met) c.358G>A (p.Val120Met) c.355G>A (p.Val119Met) c.101G>A (p.Cys34Tyr) n.573G>A c.241G>A (p.Val81Met) n.620G>A | dbSNP |
21 | g.34880672A= | CA2387294364 | RUNX1 | c.393T= (p.Thr131=) c.312T= (p.Thr104=) c.357T= (p.Thr119=) c.354T= (p.Thr118=) c.100T= (p.Cys34=) n.572T= c.240T= (p.Thr80=) n.619T= | |
21 | g.34880672A>C | CA512318759 | RUNX1 | c.393T>G (p.Thr131=) c.312T>G (p.Thr104=) c.357T>G (p.Thr119=) c.354T>G (p.Thr118=) c.100T>G (p.Cys34Gly) n.572T>G c.240T>G (p.Thr80=) n.619T>G | |
21 | g.34880672A>G | CA10014522 | RUNX1 | c.393T>C (p.Thr131=) c.312T>C (p.Thr104=) c.357T>C (p.Thr119=) c.354T>C (p.Thr118=) c.100T>C (p.Cys34Arg) n.572T>C c.240T>C (p.Thr80=) n.619T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
21 | g.34880672A>T | CA512318758 | RUNX1 | c.393T>A (p.Thr131=) c.312T>A (p.Thr104=) c.357T>A (p.Thr119=) c.354T>A (p.Thr118=) c.100T>A (p.Cys34Ser) n.572T>A c.240T>A (p.Thr80=) n.619T>A | dbSNP gnomAD v4 COSMIC COSMIC |
21 | g.34880673G>A | CA410202710 | RUNX1 | c.392C>T (p.Thr131Ile) c.311C>T (p.Thr104Ile) c.356C>T (p.Thr119Ile) c.353C>T (p.Thr118Ile) c.99C>T (p.His33=) n.571C>T c.239C>T (p.Thr80Ile) n.618C>T | dbSNP |
21 | g.34880673G>C | CA410202711 | RUNX1 | c.392C>G (p.Thr131Ser) c.311C>G (p.Thr104Ser) c.356C>G (p.Thr119Ser) c.353C>G (p.Thr118Ser) c.99C>G (p.His33Gln) n.571C>G c.239C>G (p.Thr80Ser) n.618C>G | dbSNP |
21 | g.34880673G>T | CA410202712 | RUNX1 | c.392C>A (p.Thr131Asn) c.311C>A (p.Thr104Asn) c.356C>A (p.Thr119Asn) c.353C>A (p.Thr118Asn) c.99C>A (p.His33Gln) n.571C>A c.239C>A (p.Thr80Asn) n.618C>A | dbSNP |
21 | g.34880673_34880674insCGAT | CA2580098649 | RUNX1 | c.391_392insATCG (p.Thr131AsnfsTer8) c.310_311insATCG (p.Thr104AsnfsTer8) c.355_356insATCG (p.Thr119AsnfsTer8) c.352_353insATCG (p.Thr118AsnfsTer8) c.98_99insATCG (p.His33GlnfsTer4) n.570_571insATCG c.238_239insATCG (p.Thr80AsnfsTer8) n.617_618insATCG | ClinVar |
21 | g.34880674T>A | CA410202713 | RUNX1 | c.391A>T (p.Thr131Ser) c.310A>T (p.Thr104Ser) c.355A>T (p.Thr119Ser) c.352A>T (p.Thr118Ser) c.98A>T (p.His33Leu) n.570A>T c.238A>T (p.Thr80Ser) n.617A>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.34880674T>C | CA410202714 | RUNX1 | c.391A>G (p.Thr131Ala) c.310A>G (p.Thr104Ala) c.355A>G (p.Thr119Ala) c.352A>G (p.Thr118Ala) c.98A>G (p.His33Arg) n.570A>G c.238A>G (p.Thr80Ala) n.617A>G | ClinVar dbSNP gnomAD v4 |
21 | g.34880674T>G | CA410202715 | RUNX1 | c.391A>C (p.Thr131Pro) c.310A>C (p.Thr104Pro) c.355A>C (p.Thr119Pro) c.352A>C (p.Thr118Pro) c.98A>C (p.His33Pro) n.570A>C c.238A>C (p.Thr80Pro) n.617A>C | |
21 | g.34880674T= | CA2387294365 | RUNX1 | c.391A= (p.Thr131=) c.310A= (p.Thr104=) c.355A= (p.Thr119=) c.352A= (p.Thr118=) c.98A= (p.His33=) n.570A= c.238A= (p.Thr80=) n.617A= | |
21 | g.34880675G>A | CA512318762 | RUNX1 | c.390C>T (p.Val130=) c.309C>T (p.Val103=) c.354C>T (p.Val118=) c.351C>T (p.Val117=) c.97C>T (p.His33Tyr) n.569C>T c.237C>T (p.Val79=) n.616C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34880675G>C | CA512318761 | RUNX1 | c.390C>G (p.Val130=) c.309C>G (p.Val103=) c.354C>G (p.Val118=) c.351C>G (p.Val117=) c.97C>G (p.His33Asp) n.569C>G c.237C>G (p.Val79=) n.616C>G | dbSNP |
21 | g.34880675G= | CA2387294366 | RUNX1 | c.390C= (p.Val130=) c.309C= (p.Val103=) c.354C= (p.Val118=) c.351C= (p.Val117=) c.97C= (p.His33=) n.569C= c.237C= (p.Val79=) n.616C= | |
21 | g.34880675G>T | CA512318760 | RUNX1 | c.390C>A (p.Val130=) c.309C>A (p.Val103=) c.354C>A (p.Val118=) c.351C>A (p.Val117=) c.97C>A (p.His33Asn) n.569C>A c.237C>A (p.Val79=) n.616C>A | dbSNP |
21 | g.34880676A>C | CA410202717 | RUNX1 | c.389T>G (p.Val130Gly) c.308T>G (p.Val103Gly) c.353T>G (p.Val118Gly) c.350T>G (p.Val117Gly) c.96T>G (p.Gly32=) n.568T>G c.236T>G (p.Val79Gly) n.615T>G | dbSNP |
21 | g.34880676A>G | CA410202718 | RUNX1 | c.389T>C (p.Val130Ala) c.308T>C (p.Val103Ala) c.353T>C (p.Val118Ala) c.350T>C (p.Val117Ala) c.96T>C (p.Gly32=) n.568T>C c.236T>C (p.Val79Ala) n.615T>C | |
21 | g.34880676A>T | CA410202716 | RUNX1 | c.389T>A (p.Val130Asp) c.308T>A (p.Val103Asp) c.353T>A (p.Val118Asp) c.350T>A (p.Val117Asp) c.96T>A (p.Gly32=) n.568T>A c.236T>A (p.Val79Asp) n.615T>A | ClinVar dbSNP |
21 | g.34880677C>A | CA410202719 | RUNX1 | c.388G>T (p.Val130Phe) c.307G>T (p.Val103Phe) c.352G>T (p.Val118Phe) c.349G>T (p.Val117Phe) c.95G>T (p.Gly32Val) n.567G>T c.235G>T (p.Val79Phe) n.614G>T | dbSNP |
21 | g.34880677C= | CA2387294367 | RUNX1 | c.388G= (p.Val130=) c.307G= (p.Val103=) c.352G= (p.Val118=) c.349G= (p.Val117=) c.95G= (p.Gly32=) n.567G= c.235G= (p.Val79=) n.614G= | |
21 | g.34880677C>G | CA410202720 | RUNX1 | c.388G>C (p.Val130Leu) c.307G>C (p.Val103Leu) c.352G>C (p.Val118Leu) c.349G>C (p.Val117Leu) c.95G>C (p.Gly32Ala) n.567G>C c.235G>C (p.Val79Leu) n.614G>C | dbSNP |
21 | g.34880677C>T | CA410202721 | RUNX1 | c.388G>A (p.Val130Ile) c.307G>A (p.Val103Ile) c.352G>A (p.Val118Ile) c.349G>A (p.Val117Ile) c.95G>A (p.Gly32Asp) n.567G>A c.235G>A (p.Val79Ile) n.614G>A | ClinVar dbSNP |
21 | g.34880678del | CA658820846 | RUNX1 | c.388del (p.Val130SerfsTer3) c.307del (p.Val103SerfsTer3) c.352del (p.Val118SerfsTer3) c.349del (p.Val117SerfsTer3) c.95del (p.Gly32ValfsTer?) n.567del c.235del (p.Val79SerfsTer3) n.614del | |
21 | g.34880677_34880678insA | CA645607401 | RUNX1 | c.387_388insT (p.Val130CysfsTer8) c.306_307insT (p.Val103CysfsTer8) c.351_352insT (p.Val118CysfsTer8) c.348_349insT (p.Val117CysfsTer8) c.94_95insT (p.Gly32ValfsTer4) n.566_567insT c.234_235insT (p.Val79CysfsTer8) n.613_614insT | COSMIC COSMIC |
21 | g.34880678C>A | CA512318765 | RUNX1 | c.387G>T (p.Leu129=) c.306G>T (p.Leu102=) c.351G>T (p.Leu117=) c.348G>T (p.Leu116=) c.94G>T (p.Gly32Cys) n.566G>T c.234G>T (p.Leu78=) n.613G>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.34880678C= | CA2387294368 | RUNX1 | c.387G= (p.Leu129=) c.306G= (p.Leu102=) c.351G= (p.Leu117=) c.348G= (p.Leu116=) c.94G= (p.Gly32=) n.566G= c.234G= (p.Leu78=) n.613G= | |
21 | g.34880678C>G | CA512318763 | RUNX1 | c.387G>C (p.Leu129=) c.306G>C (p.Leu102=) c.351G>C (p.Leu117=) c.348G>C (p.Leu116=) c.94G>C (p.Gly32Arg) n.566G>C c.234G>C (p.Leu78=) n.613G>C | dbSNP gnomAD v4 |
21 | g.34880678C>T | CA512318764 | RUNX1 | c.387G>A (p.Leu129=) c.306G>A (p.Leu102=) c.351G>A (p.Leu117=) c.348G>A (p.Leu116=) c.94G>A (p.Gly32Ser) n.566G>A c.234G>A (p.Leu78=) n.613G>A | dbSNP |
21 | g.34880679A>C | CA410202722 | RUNX1 | c.386T>G (p.Leu129Arg) c.305T>G (p.Leu102Arg) c.350T>G (p.Leu117Arg) c.347T>G (p.Leu116Arg) c.93T>G (p.Ser31=) n.565T>G c.233T>G (p.Leu78Arg) n.612T>G | |
21 | g.34880679A>G | CA410202723 | RUNX1 | c.386T>C (p.Leu129Pro) c.305T>C (p.Leu102Pro) c.350T>C (p.Leu117Pro) c.347T>C (p.Leu116Pro) c.93T>C (p.Ser31=) n.565T>C c.233T>C (p.Leu78Pro) n.612T>C | |
21 | g.34880679A>T | CA410202724 | RUNX1 | c.386T>A (p.Leu129Gln) c.305T>A (p.Leu102Gln) c.350T>A (p.Leu117Gln) c.347T>A (p.Leu116Gln) c.93T>A (p.Ser31=) n.565T>A c.233T>A (p.Leu78Gln) n.612T>A | dbSNP |
21 | g.34880679dup | CA2580616389 | RUNX1 | c.386dup (p.Val130GlyfsTer8) c.305dup (p.Val103GlyfsTer8) c.350dup (p.Val118GlyfsTer8) c.347dup (p.Val117GlyfsTer8) c.93dup (p.Gly32TrpfsTer4) n.565dup c.233dup (p.Val79GlyfsTer8) n.612dup | ClinVar |
21 | g.34880681_34880682dup | CA891842375 | RUNX1 | c.385_386dup (p.Val130TrpfsTer4) c.304_305dup (p.Val103TrpfsTer4) c.349_350dup (p.Val118TrpfsTer4) c.346_347dup (p.Val117TrpfsTer4) c.92_93dup (p.Gly32LeufsTer?) n.564_565dup c.232_233dup (p.Val79TrpfsTer4) n.611_612dup | |
21 | g.34880680G>A | CA512318766 | RUNX1 | c.385C>T (p.Leu129=) c.304C>T (p.Leu102=) c.349C>T (p.Leu117=) c.346C>T (p.Leu116=) c.92C>T (p.Ser31Phe) n.564C>T c.232C>T (p.Leu78=) n.611C>T | dbSNP |
21 | g.34880680G>C | CA410202726 | RUNX1 | c.385C>G (p.Leu129Val) c.304C>G (p.Leu102Val) c.349C>G (p.Leu117Val) c.346C>G (p.Leu116Val) c.92C>G (p.Ser31Cys) n.564C>G c.232C>G (p.Leu78Val) n.611C>G | dbSNP gnomAD v4 |
21 | g.34880680G>T | CA410202725 | RUNX1 | c.385C>A (p.Leu129Met) c.304C>A (p.Leu102Met) c.349C>A (p.Leu117Met) c.346C>A (p.Leu116Met) c.92C>A (p.Ser31Tyr) n.564C>A c.232C>A (p.Leu78Met) n.611C>A | |
21 | g.34880681A>C | CA512318768 | RUNX1 | c.384T>G (p.Thr128=) c.303T>G (p.Thr101=) c.348T>G (p.Thr116=) c.345T>G (p.Thr115=) c.91T>G (p.Ser31Ala) n.563T>G c.231T>G (p.Thr77=) n.610T>G | |
21 | g.34880681A>G | CA512318767 | RUNX1 | c.384T>C (p.Thr128=) c.303T>C (p.Thr101=) c.348T>C (p.Thr116=) c.345T>C (p.Thr115=) c.91T>C (p.Ser31Pro) n.563T>C c.231T>C (p.Thr77=) n.610T>C | ClinVar dbSNP COSMIC |
21 | g.34880681A>T | CA512318769 | RUNX1 | c.384T>A (p.Thr128=) c.303T>A (p.Thr101=) c.348T>A (p.Thr116=) c.345T>A (p.Thr115=) c.91T>A (p.Ser31Thr) n.563T>A c.231T>A (p.Thr77=) n.610T>A | dbSNP |
21 | g.34880682G>A | CA410202727 | RUNX1 | c.383C>T (p.Thr128Ile) c.302C>T (p.Thr101Ile) c.347C>T (p.Thr116Ile) c.344C>T (p.Thr115Ile) c.90C>T (p.His30=) n.562C>T c.230C>T (p.Thr77Ile) n.609C>T | |
21 | g.34880682G>C | CA410202728 | RUNX1 | c.383C>G (p.Thr128Ser) c.302C>G (p.Thr101Ser) c.347C>G (p.Thr116Ser) c.344C>G (p.Thr115Ser) c.90C>G (p.His30Gln) n.562C>G c.230C>G (p.Thr77Ser) n.609C>G | dbSNP |
21 | g.34880682G>T | CA410202729 | RUNX1 | c.383C>A (p.Thr128Asn) c.302C>A (p.Thr101Asn) c.347C>A (p.Thr116Asn) c.344C>A (p.Thr115Asn) c.90C>A (p.His30Gln) n.562C>A c.230C>A (p.Thr77Asn) n.609C>A | |
21 | g.34880683T>A | CA410202730 | RUNX1 | c.382A>T (p.Thr128Ser) c.301A>T (p.Thr101Ser) c.346A>T (p.Thr116Ser) c.343A>T (p.Thr115Ser) c.89A>T (p.His30Leu) n.561A>T c.229A>T (p.Thr77Ser) n.608A>T | dbSNP |
21 | g.34880683T>C | CA410202731 | RUNX1 | c.382A>G (p.Thr128Ala) c.301A>G (p.Thr101Ala) c.346A>G (p.Thr116Ala) c.343A>G (p.Thr115Ala) c.89A>G (p.His30Arg) n.561A>G c.229A>G (p.Thr77Ala) n.608A>G | COSMIC |
21 | g.34880683T>G | CA410202732 | RUNX1 | c.382A>C (p.Thr128Pro) c.301A>C (p.Thr101Pro) c.346A>C (p.Thr116Pro) c.343A>C (p.Thr115Pro) c.89A>C (p.His30Pro) n.561A>C c.229A>C (p.Thr77Pro) n.608A>C | dbSNP |
21 | g.34880683_34880686del | CA645607402 | RUNX1 | c.379_382del (p.Gly127LeufsTer5) c.298_301del (p.Gly100LeufsTer5) c.343_346del (p.Gly115LeufsTer5) c.340_343del (p.Gly114LeufsTer5) c.86_89del (p.Trp29SerfsTer?) n.558_561del c.226_229del (p.Gly76LeufsTer5) n.605_608del | COSMIC COSMIC |
21 | g.34880684G>A | CA512318771 | RUNX1 | c.381C>T (p.Gly127=) c.300C>T (p.Gly100=) c.345C>T (p.Gly115=) c.342C>T (p.Gly114=) c.88C>T (p.His30Tyr) n.560C>T c.228C>T (p.Gly76=) n.607C>T | |
21 | g.34880684G>C | CA512318772 | RUNX1 | c.381C>G (p.Gly127=) c.300C>G (p.Gly100=) c.345C>G (p.Gly115=) c.342C>G (p.Gly114=) c.88C>G (p.His30Asp) n.560C>G c.228C>G (p.Gly76=) n.607C>G | |
21 | g.34880684G>T | CA512318770 | RUNX1 | c.381C>A (p.Gly127=) c.300C>A (p.Gly100=) c.345C>A (p.Gly115=) c.342C>A (p.Gly114=) c.88C>A (p.His30Asn) n.560C>A c.228C>A (p.Gly76=) n.607C>A | |
21 | g.34880684_34880685dup | CA2654380171 | RUNX1 | c.380_381dup (p.Thr128AlafsTer6) c.299_300dup (p.Thr101AlafsTer6) c.344_345dup (p.Thr116AlafsTer6) c.341_342dup (p.Thr115AlafsTer6) c.87_88dup (p.His30ArgfsTer?) n.559_560dup c.227_228dup (p.Thr77AlafsTer6) n.606_607dup | gnomAD v4 |
21 | g.34880685C>A | CA410202733 | RUNX1 | c.380G>T (p.Gly127Val) c.299G>T (p.Gly100Val) c.344G>T (p.Gly115Val) c.341G>T (p.Gly114Val) c.87G>T (p.Trp29Cys) n.559G>T c.227G>T (p.Gly76Val) n.606G>T | ClinVar dbSNP |
21 | g.34880685C>G | CA410202735 | RUNX1 | c.380G>C (p.Gly127Ala) c.299G>C (p.Gly100Ala) c.344G>C (p.Gly115Ala) c.341G>C (p.Gly114Ala) c.87G>C (p.Trp29Cys) n.559G>C c.227G>C (p.Gly76Ala) n.606G>C | dbSNP |
21 | g.34880685C>T | CA410202734 | RUNX1 | c.380G>A (p.Gly127Asp) c.299G>A (p.Gly100Asp) c.344G>A (p.Gly115Asp) c.341G>A (p.Gly114Asp) c.87G>A (p.Trp29Ter) n.559G>A c.227G>A (p.Gly76Asp) n.606G>A | dbSNP COSMIC COSMIC |
21 | g.34880686C>A | CA410202736 | RUNX1 | c.379G>T (p.Gly127Cys) c.298G>T (p.Gly100Cys) c.343G>T (p.Gly115Cys) c.340G>T (p.Gly114Cys) c.86G>T (p.Trp29Leu) n.558G>T c.226G>T (p.Gly76Cys) n.605G>T | |
21 | g.34880686C>G | CA410202737 | RUNX1 | c.379G>C (p.Gly127Arg) c.298G>C (p.Gly100Arg) c.343G>C (p.Gly115Arg) c.340G>C (p.Gly114Arg) c.86G>C (p.Trp29Ser) n.558G>C c.226G>C (p.Gly76Arg) n.605G>C | dbSNP |
21 | g.34880686C>T | CA410202738 | RUNX1 | c.379G>A (p.Gly127Ser) c.298G>A (p.Gly100Ser) c.343G>A (p.Gly115Ser) c.340G>A (p.Gly114Ser) c.86G>A (p.Trp29Ter) n.558G>A c.226G>A (p.Gly76Ser) n.605G>A | dbSNP |
21 | g.34880687A= | CA2387294369 | RUNX1 | c.378T= (p.Asp126=) c.297T= (p.Asp99=) c.342T= (p.Asp114=) c.339T= (p.Asp113=) c.85T= (p.Trp29=) n.557T= c.225T= (p.Asp75=) n.604T= | |
21 | g.34880687A>C | CA410202739 | RUNX1 | c.378T>G (p.Asp126Glu) c.297T>G (p.Asp99Glu) c.342T>G (p.Asp114Glu) c.339T>G (p.Asp113Glu) c.85T>G (p.Trp29Gly) n.557T>G c.225T>G (p.Asp75Glu) n.604T>G | ClinVar dbSNP |
21 | g.34880687A>G | CA512318773 | RUNX1 | c.378T>C (p.Asp126=) c.297T>C (p.Asp99=) c.342T>C (p.Asp114=) c.339T>C (p.Asp113=) c.85T>C (p.Trp29Arg) n.557T>C c.225T>C (p.Asp75=) n.604T>C | dbSNP |
21 | g.34880687A>T | CA410202740 | RUNX1 | c.378T>A (p.Asp126Glu) c.297T>A (p.Asp99Glu) c.342T>A (p.Asp114Glu) c.339T>A (p.Asp113Glu) c.85T>A (p.Trp29Arg) n.557T>A c.225T>A (p.Asp75Glu) n.604T>A | dbSNP |
21 | g.34880688T>A | CA410202741 | RUNX1 | c.377A>T (p.Asp126Val) c.296A>T (p.Asp99Val) c.341A>T (p.Asp114Val) c.338A>T (p.Asp113Val) c.84A>T (p.Arg28Ser) n.556A>T c.224A>T (p.Asp75Val) n.603A>T | dbSNP |
21 | g.34880688T>C | CA410202742 | RUNX1 | c.377A>G (p.Asp126Gly) c.296A>G (p.Asp99Gly) c.341A>G (p.Asp114Gly) c.338A>G (p.Asp113Gly) c.84A>G (p.Arg28=) n.556A>G c.224A>G (p.Asp75Gly) n.603A>G | |
21 | g.34880688T>G | CA410202743 | RUNX1 | c.377A>C (p.Asp126Ala) c.296A>C (p.Asp99Ala) c.341A>C (p.Asp114Ala) c.338A>C (p.Asp113Ala) c.84A>C (p.Arg28Ser) n.556A>C c.224A>C (p.Asp75Ala) n.603A>C | |
21 | g.34880688dup | CA645607403 | RUNX1 | c.377dup (p.Asp126GlufsTer12) c.296dup (p.Asp99GlufsTer12) c.341dup (p.Asp114GlufsTer12) c.338dup (p.Asp113GlufsTer12) c.84dup (p.Trp29MetfsTer7) n.556dup c.224dup (p.Asp75GlufsTer12) n.603dup | COSMIC COSMIC COSMIC COSMIC |
21 | g.34880689C>A | CA410202744 | RUNX1 | c.376G>T (p.Asp126Tyr) c.295G>T (p.Asp99Tyr) c.340G>T (p.Asp114Tyr) c.337G>T (p.Asp113Tyr) c.83G>T (p.Arg28Ile) n.555G>T c.223G>T (p.Asp75Tyr) n.602G>T | |
21 | g.34880689C>G | CA410202745 | RUNX1 | c.376G>C (p.Asp126His) c.295G>C (p.Asp99His) c.340G>C (p.Asp114His) c.337G>C (p.Asp113His) c.83G>C (p.Arg28Thr) n.555G>C c.223G>C (p.Asp75His) n.602G>C | dbSNP |
21 | g.34880689C>T | CA410202746 | RUNX1 | c.376G>A (p.Asp126Asn) c.295G>A (p.Asp99Asn) c.340G>A (p.Asp114Asn) c.337G>A (p.Asp113Asn) c.83G>A (p.Arg28Lys) n.555G>A c.223G>A (p.Asp75Asn) n.602G>A | dbSNP |
21 | g.34880690T>A | CA512318775 | RUNX1 | c.375A>T (p.Pro125=) c.294A>T (p.Pro98=) c.339A>T (p.Pro113=) c.336A>T (p.Pro112=) c.82A>T (p.Arg28Ter) n.554A>T c.222A>T (p.Pro74=) n.601A>T | |
21 | g.34880690T>C | CA512318776 | RUNX1 | c.375A>G (p.Pro125=) c.294A>G (p.Pro98=) c.339A>G (p.Pro113=) c.336A>G (p.Pro112=) c.82A>G (p.Arg28Gly) n.554A>G c.222A>G (p.Pro74=) n.601A>G | ClinVar dbSNP |
21 | g.34880690T>G | CA512318774 | RUNX1 | c.375A>C (p.Pro125=) c.294A>C (p.Pro98=) c.339A>C (p.Pro113=) c.336A>C (p.Pro112=) c.82A>C (p.Arg28=) n.554A>C c.222A>C (p.Pro74=) n.601A>C | |
21 | g.34880690T= | CA2387294370 | RUNX1 | c.375A= (p.Pro125=) c.294A= (p.Pro98=) c.339A= (p.Pro113=) c.336A= (p.Pro112=) c.82A= (p.Arg28=) n.554A= c.222A= (p.Pro74=) n.601A= |