Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.34886710_34886921del | CA2580611058 | RUNX1 | c.273_351+133del c.192_270+133del c.237_315+133del c.234_312+133del c.59-6208_59-5997del (n.59-6208_59-5997del) n.452_530+133del c.120_198+133del n.499_577+133del | |
21 | g.34886844_34886927del | CA645607417 | RUNX1 | c.270_351+2del c.189_270+2del c.234_315+2del c.231_312+2del c.59-6211_59-6128del (n.59-6211_59-6128del) n.449_530+2del c.117_198+2del n.496_577+2del | COSMIC |
21 | g.34886861_34886903dup | CA2697547498 | RUNX1 | c.292_334dup (p.Leu112ProfsTer40) c.211_253dup (p.Leu85ProfsTer40) c.256_298dup (p.Leu100ProfsTer40) c.253_295dup (p.Leu99ProfsTer40) c.59-6189_59-6147dup (n.59-6189_59-6147dup) n.471_513dup c.139_181dup (p.Leu61ProfsTer40) n.518_560dup | ClinVar |
21 | g.34886883_34886904dup | CA2695202381 | RUNX1 | c.290_311dup (p.His105ProfsTer?) c.209_230dup (p.His78ProfsTer?) c.254_275dup (p.His93ProfsTer?) c.251_272dup (p.His92ProfsTer?) c.59-6191_59-6170dup (n.59-6191_59-6170dup) n.469_490dup c.137_158dup (p.His54ProfsTer?) n.516_537dup | |
21 | g.34886894_34886905delinsGGAGCAGAGGAA | CA2387297135 | RUNX1 | c.289_300delinsTTCCTCTGCTCC (p.Phe97=) c.208_219delinsTTCCTCTGCTCC (p.Phe70=) c.253_264delinsTTCCTCTGCTCC (p.Phe85=) c.250_261delinsTTCCTCTGCTCC (p.Phe84=) c.59-6192_59-6181delinsTTCCTCTGCTCC (n.59-6192_59-6181delinsTTCCTCTGCTCC) n.468_479delinsTTCCTCTGCTCC c.136_147delinsTTCCTCTGCTCC (p.Phe46=) n.515_526delinsTTCCTCTGCTCC | |
21 | g.34886898_34886902dup | CA645607435 | RUNX1 | c.295_299dup (p.Val101AlafsTer23) c.214_218dup (p.Val74AlafsTer23) c.259_263dup (p.Val89AlafsTer23) c.256_260dup (p.Val88AlafsTer23) c.59-6186_59-6182dup (n.59-6186_59-6182dup) n.474_478dup c.142_146dup (p.Val50AlafsTer23) n.521_525dup | COSMIC COSMIC |
21 | g.34886895_34886905delinsCAGCGGAAGGAG | CA915952644 | RUNX1 | c.289_299delinsCTCCTTCCGCTG (p.Phe97LeufsTer?) c.208_218delinsCTCCTTCCGCTG (p.Phe70LeufsTer?) c.253_263delinsCTCCTTCCGCTG (p.Phe85LeufsTer?) c.250_260delinsCTCCTTCCGCTG (p.Phe84LeufsTer?) c.59-6192_59-6182delinsCTCCTTCCGCTG (n.59-6192_59-6182delinsCTCCTTCCGCTG) n.468_478delinsCTCCTTCCGCTG c.136_146delinsCTCCTTCCGCTG (p.Phe46LeufsTer?) n.515_525delinsCTCCTTCCGCTG | ClinVar dbSNP |
21 | g.34886898C>A | CA410203616 | RUNX1 | c.296G>T (p.Cys99Phe) c.215G>T (p.Cys72Phe) c.260G>T (p.Cys87Phe) c.257G>T (p.Cys86Phe) c.59-6185G>T (n.59-6185G>T) n.475G>T c.143G>T (p.Cys48Phe) n.522G>T | |
21 | g.34886898C>G | CA410203615 | RUNX1 | c.296G>C (p.Cys99Ser) c.215G>C (p.Cys72Ser) c.260G>C (p.Cys87Ser) c.257G>C (p.Cys86Ser) c.59-6185G>C (n.59-6185G>C) n.475G>C c.143G>C (p.Cys48Ser) n.522G>C | dbSNP |
21 | g.34886898C>T | CA410203612 | RUNX1 | c.296G>A (p.Cys99Tyr) c.215G>A (p.Cys72Tyr) c.260G>A (p.Cys87Tyr) c.257G>A (p.Cys86Tyr) c.59-6185G>A (n.59-6185G>A) n.475G>A c.143G>A (p.Cys48Tyr) n.522G>A | ClinVar dbSNP COSMIC |
21 | g.34886899A>C | CA410203619 | RUNX1 | c.295T>G (p.Cys99Gly) c.214T>G (p.Cys72Gly) c.259T>G (p.Cys87Gly) c.256T>G (p.Cys86Gly) c.59-6186T>G (n.59-6186T>G) n.474T>G c.142T>G (p.Cys48Gly) n.521T>G | |
21 | g.34886899A>G | CA410203621 | RUNX1 | c.295T>C (p.Cys99Arg) c.214T>C (p.Cys72Arg) c.259T>C (p.Cys87Arg) c.256T>C (p.Cys86Arg) c.59-6186T>C (n.59-6186T>C) n.474T>C c.142T>C (p.Cys48Arg) n.521T>C | dbSNP |
21 | g.34886899A>T | CA410203624 | RUNX1 | c.295T>A (p.Cys99Ser) c.214T>A (p.Cys72Ser) c.259T>A (p.Cys87Ser) c.256T>A (p.Cys86Ser) c.59-6186T>A (n.59-6186T>A) n.474T>A c.142T>A (p.Cys48Ser) n.521T>A | |
21 | g.34886900G>A | CA512318849 | RUNX1 | c.294C>T (p.Leu98=) c.213C>T (p.Leu71=) c.258C>T (p.Leu86=) c.255C>T (p.Leu85=) c.59-6187C>T (n.59-6187C>T) n.473C>T c.141C>T (p.Leu47=) n.520C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34886900G>C | CA512318850 | RUNX1 | c.294C>G (p.Leu98=) c.213C>G (p.Leu71=) c.258C>G (p.Leu86=) c.255C>G (p.Leu85=) c.59-6187C>G (n.59-6187C>G) n.473C>G c.141C>G (p.Leu47=) n.520C>G | ClinVar dbSNP |
21 | g.34886900G= | CA2387297136 | RUNX1 | c.294C= (p.Leu98=) c.213C= (p.Leu71=) c.258C= (p.Leu86=) c.255C= (p.Leu85=) c.59-6187C= (n.59-6187C=) n.473C= c.141C= (p.Leu47=) n.520C= | |
21 | g.34886900G>T | CA512318851 | RUNX1 | c.294C>A (p.Leu98=) c.213C>A (p.Leu71=) c.258C>A (p.Leu86=) c.255C>A (p.Leu85=) c.59-6187C>A (n.59-6187C>A) n.473C>A c.141C>A (p.Leu47=) n.520C>A | |
21 | g.34886901A>C | CA410203628 | RUNX1 | c.293T>G (p.Leu98Arg) c.212T>G (p.Leu71Arg) c.257T>G (p.Leu86Arg) c.254T>G (p.Leu85Arg) c.59-6188T>G (n.59-6188T>G) n.472T>G c.140T>G (p.Leu47Arg) n.519T>G | |
21 | g.34886901A>G | CA410203630 | RUNX1 | c.293T>C (p.Leu98Pro) c.212T>C (p.Leu71Pro) c.257T>C (p.Leu86Pro) c.254T>C (p.Leu85Pro) c.59-6188T>C (n.59-6188T>C) n.472T>C c.140T>C (p.Leu47Pro) n.519T>C | |
21 | g.34886901A>T | CA410203637 | RUNX1 | c.293T>A (p.Leu98His) c.212T>A (p.Leu71His) c.257T>A (p.Leu86His) c.254T>A (p.Leu85His) c.59-6188T>A (n.59-6188T>A) n.472T>A c.140T>A (p.Leu47His) n.519T>A | |
21 | g.34886901_34886902delinsAG | CA2387297137 | RUNX1 | c.292_293delinsCT (p.Leu98=) c.211_212delinsCT (p.Leu71=) c.256_257delinsCT (p.Leu86=) c.253_254delinsCT (p.Leu85=) c.59-6189_59-6188delinsCT (n.59-6189_59-6188delinsCT) n.471_472delinsCT c.139_140delinsCT (p.Leu47=) n.518_519delinsCT | |
21 | g.34886902G>A | CA410203650 | RUNX1 | c.292C>T (p.Leu98Phe) c.211C>T (p.Leu71Phe) c.256C>T (p.Leu86Phe) c.253C>T (p.Leu85Phe) c.59-6189C>T (n.59-6189C>T) n.471C>T c.139C>T (p.Leu47Phe) n.518C>T | dbSNP |
21 | g.34886902G>C | CA410203640 | RUNX1 | c.292C>G (p.Leu98Val) c.211C>G (p.Leu71Val) c.256C>G (p.Leu86Val) c.253C>G (p.Leu85Val) c.59-6189C>G (n.59-6189C>G) n.471C>G c.139C>G (p.Leu47Val) n.518C>G | |
21 | g.34886902G= | CA2387297138 | RUNX1 | c.292C= (p.Leu98=) c.211C= (p.Leu71=) c.256C= (p.Leu86=) c.253C= (p.Leu85=) c.59-6189C= (n.59-6189C=) n.471C= c.139C= (p.Leu47=) n.518C= | |
21 | g.34886902G>T | CA410203643 | RUNX1 | c.292C>A (p.Leu98Ile) c.211C>A (p.Leu71Ile) c.256C>A (p.Leu86Ile) c.253C>A (p.Leu85Ile) c.59-6189C>A (n.59-6189C>A) n.471C>A c.139C>A (p.Leu47Ile) n.518C>A | dbSNP gnomAD v2 |
21 | g.34886903del | CA512318852 | RUNX1 | c.292del (p.Leu98SerfsTer24) c.211del (p.Leu71SerfsTer24) c.256del (p.Leu86SerfsTer24) c.253del (p.Leu85SerfsTer24) c.59-6189del (n.59-6189del) n.471del c.139del (p.Leu47SerfsTer24) n.518del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
21 | g.34886902_34886903insT | CA645607439 | RUNX1 | c.291_292insA (p.Leu98ThrfsTer?) c.210_211insA (p.Leu71ThrfsTer?) c.255_256insA (p.Leu86ThrfsTer?) c.252_253insA (p.Leu85ThrfsTer?) c.59-6190_59-6189insA (n.59-6190_59-6189insA) n.470_471insA c.138_139insA (p.Leu47ThrfsTer?) n.517_518insA | COSMIC |
21 | g.34886903G>A | CA512318853 | RUNX1 | c.291C>T (p.Phe97=) c.210C>T (p.Phe70=) c.255C>T (p.Phe85=) c.252C>T (p.Phe84=) c.59-6190C>T (n.59-6190C>T) n.470C>T c.138C>T (p.Phe46=) n.517C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886903G>C | CA410203651 | RUNX1 | c.291C>G (p.Phe97Leu) c.210C>G (p.Phe70Leu) c.255C>G (p.Phe85Leu) c.252C>G (p.Phe84Leu) c.59-6190C>G (n.59-6190C>G) n.470C>G c.138C>G (p.Phe46Leu) n.517C>G | |
21 | g.34886903G= | CA2387297139 | RUNX1 | c.291C= (p.Phe97=) c.210C= (p.Phe70=) c.255C= (p.Phe85=) c.252C= (p.Phe84=) c.59-6190C= (n.59-6190C=) n.470C= c.138C= (p.Phe46=) n.517C= | |
21 | g.34886903G>T | CA410203652 | RUNX1 | c.291C>A (p.Phe97Leu) c.210C>A (p.Phe70Leu) c.255C>A (p.Phe85Leu) c.252C>A (p.Phe84Leu) c.59-6190C>A (n.59-6190C>A) n.470C>A c.138C>A (p.Phe46Leu) n.517C>A | dbSNP gnomAD v2 |
21 | g.34886903_34886904insCG | CA645607438 | RUNX1 | c.291_292insGC (p.Leu98AlafsTer25) c.210_211insGC (p.Leu71AlafsTer25) c.255_256insGC (p.Leu86AlafsTer25) c.252_253insGC (p.Leu85AlafsTer25) c.59-6190_59-6189insGC (n.59-6190_59-6189insGC) n.470_471insGC c.138_139insGC (p.Leu47AlafsTer25) n.517_518insGC | COSMIC COSMIC |
21 | g.34886904_34886906dup | CA2695202410 | RUNX1 | c.289_291dup (p.Phe97_Leu98insPhe) c.208_210dup (p.Phe70_Leu71insPhe) c.253_255dup (p.Phe85_Leu86insPhe) c.250_252dup (p.Phe84_Leu85insPhe) c.59-6192_59-6190dup (n.59-6192_59-6190dup) n.468_470dup c.136_138dup (p.Phe46_Leu47insPhe) n.515_517dup | |
21 | g.34886904A>C | CA410203653 | RUNX1 | c.290T>G (p.Phe97Cys) c.209T>G (p.Phe70Cys) c.254T>G (p.Phe85Cys) c.251T>G (p.Phe84Cys) c.59-6191T>G (n.59-6191T>G) n.469T>G c.137T>G (p.Phe46Cys) n.516T>G | |
21 | g.34886904A>G | CA410203654 | RUNX1 | c.290T>C (p.Phe97Ser) c.209T>C (p.Phe70Ser) c.254T>C (p.Phe85Ser) c.251T>C (p.Phe84Ser) c.59-6191T>C (n.59-6191T>C) n.469T>C c.137T>C (p.Phe46Ser) n.516T>C | COSMIC |
21 | g.34886904A>T | CA410203656 | RUNX1 | c.290T>A (p.Phe97Tyr) c.209T>A (p.Phe70Tyr) c.254T>A (p.Phe85Tyr) c.251T>A (p.Phe84Tyr) c.59-6191T>A (n.59-6191T>A) n.469T>A c.137T>A (p.Phe46Tyr) n.516T>A | |
21 | g.34886905A>C | CA410203658 | RUNX1 | c.289T>G (p.Phe97Val) c.208T>G (p.Phe70Val) c.253T>G (p.Phe85Val) c.250T>G (p.Phe84Val) c.59-6192T>G (n.59-6192T>G) n.468T>G c.136T>G (p.Phe46Val) n.515T>G | |
21 | g.34886905A>G | CA410203662 | RUNX1 | c.289T>C (p.Phe97Leu) c.208T>C (p.Phe70Leu) c.253T>C (p.Phe85Leu) c.250T>C (p.Phe84Leu) c.59-6192T>C (n.59-6192T>C) n.468T>C c.136T>C (p.Phe46Leu) n.515T>C | dbSNP |
21 | g.34886905A>T | CA410203659 | RUNX1 | c.289T>A (p.Phe97Ile) c.208T>A (p.Phe70Ile) c.253T>A (p.Phe85Ile) c.250T>A (p.Phe84Ile) c.59-6192T>A (n.59-6192T>A) n.468T>A c.136T>A (p.Phe46Ile) n.515T>A | dbSNP |
21 | g.34886906G>A | CA512318854 | RUNX1 | c.288C>T (p.Asn96=) c.207C>T (p.Asn69=) c.252C>T (p.Asn84=) c.249C>T (p.Asn83=) c.59-6193C>T (n.59-6193C>T) n.467C>T c.135C>T (p.Asn45=) n.514C>T | gnomAD v4 |
21 | g.34886906G>C | CA410203665 | RUNX1 | c.288C>G (p.Asn96Lys) c.207C>G (p.Asn69Lys) c.252C>G (p.Asn84Lys) c.249C>G (p.Asn83Lys) c.59-6193C>G (n.59-6193C>G) n.467C>G c.135C>G (p.Asn45Lys) n.514C>G | |
21 | g.34886906G>T | CA410203667 | RUNX1 | c.288C>A (p.Asn96Lys) c.207C>A (p.Asn69Lys) c.252C>A (p.Asn84Lys) c.249C>A (p.Asn83Lys) c.59-6193C>A (n.59-6193C>A) n.467C>A c.135C>A (p.Asn45Lys) n.514C>A | |
21 | g.34886907T>A | CA410203669 | RUNX1 | c.287A>T (p.Asn96Ile) c.206A>T (p.Asn69Ile) c.251A>T (p.Asn84Ile) c.248A>T (p.Asn83Ile) c.59-6194A>T (n.59-6194A>T) n.466A>T c.134A>T (p.Asn45Ile) n.513A>T | dbSNP |
21 | g.34886907T>C | CA10014555 | RUNX1 | c.287A>G (p.Asn96Ser) c.206A>G (p.Asn69Ser) c.251A>G (p.Asn84Ser) c.248A>G (p.Asn83Ser) c.59-6194A>G (n.59-6194A>G) n.466A>G c.134A>G (p.Asn45Ser) n.513A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.34886907T>G | CA410203671 | RUNX1 | c.287A>C (p.Asn96Thr) c.206A>C (p.Asn69Thr) c.251A>C (p.Asn84Thr) c.248A>C (p.Asn83Thr) c.59-6194A>C (n.59-6194A>C) n.466A>C c.134A>C (p.Asn45Thr) n.513A>C | dbSNP |
21 | g.34886907T= | CA2387297140 | RUNX1 | c.287A= (p.Asn96=) c.206A= (p.Asn69=) c.251A= (p.Asn84=) c.248A= (p.Asn83=) c.59-6194A= (n.59-6194A=) n.466A= c.134A= (p.Asn45=) n.513A= | |
21 | g.34886908dup | CA645607440 | RUNX1 | c.287dup (p.Asn96LysfsTer?) c.206dup (p.Asn69LysfsTer?) c.251dup (p.Asn84LysfsTer?) c.248dup (p.Asn83LysfsTer?) c.59-6194dup (n.59-6194dup) n.466dup c.134dup (p.Asn45LysfsTer?) n.513dup | COSMIC |
21 | g.34886908del | CA2737784478 | RUNX1 | c.287del (p.Asn96ThrfsTer26) c.206del (p.Asn69ThrfsTer26) c.251del (p.Asn84ThrfsTer26) c.248del (p.Asn83ThrfsTer26) c.59-6194del (n.59-6194del) n.466del c.134del (p.Asn45ThrfsTer26) n.513del | dbSNP |
21 | g.34886907_34886908insA | CA512318855 | RUNX1 | c.286_287insT (p.Asn96IlefsTer?) c.205_206insT (p.Asn69IlefsTer?) c.250_251insT (p.Asn84IlefsTer?) c.247_248insT (p.Asn83IlefsTer?) c.59-6195_59-6194insT (n.59-6195_59-6194insT) n.465_466insT c.133_134insT (p.Asn45IlefsTer?) n.512_513insT | |
21 | g.34886908T>A | CA410203672 | RUNX1 | c.286A>T (p.Asn96Tyr) c.205A>T (p.Asn69Tyr) c.250A>T (p.Asn84Tyr) c.247A>T (p.Asn83Tyr) c.59-6195A>T (n.59-6195A>T) n.465A>T c.133A>T (p.Asn45Tyr) n.512A>T | |
21 | g.34886908T>C | CA410203673 | RUNX1 | c.286A>G (p.Asn96Asp) c.205A>G (p.Asn69Asp) c.250A>G (p.Asn84Asp) c.247A>G (p.Asn83Asp) c.59-6195A>G (n.59-6195A>G) n.465A>G c.133A>G (p.Asn45Asp) n.512A>G | |
21 | g.34886908T>G | CA410203674 | RUNX1 | c.286A>C (p.Asn96His) c.205A>C (p.Asn69His) c.250A>C (p.Asn84His) c.247A>C (p.Asn83His) c.59-6195A>C (n.59-6195A>C) n.465A>C c.133A>C (p.Asn45His) n.512A>C | |
21 | g.34886909G>A | CA512318858 | RUNX1 | c.285C>T (p.Pro95=) c.204C>T (p.Pro68=) c.249C>T (p.Pro83=) c.246C>T (p.Pro82=) c.59-6196C>T (n.59-6196C>T) n.464C>T c.132C>T (p.Pro44=) n.511C>T | dbSNP |
21 | g.34886909G>C | CA512318857 | RUNX1 | c.285C>G (p.Pro95=) c.204C>G (p.Pro68=) c.249C>G (p.Pro83=) c.246C>G (p.Pro82=) c.59-6196C>G (n.59-6196C>G) n.464C>G c.132C>G (p.Pro44=) n.511C>G | |
21 | g.34886909G>T | CA512318856 | RUNX1 | c.285C>A (p.Pro95=) c.204C>A (p.Pro68=) c.249C>A (p.Pro83=) c.246C>A (p.Pro82=) c.59-6196C>A (n.59-6196C>A) n.464C>A c.132C>A (p.Pro44=) n.511C>A | dbSNP |
21 | g.34886909_34886910insTTGG | CA645607441 | RUNX1 | c.285_286insCAAC (p.Asn96GlnfsTer?) c.204_205insCAAC (p.Asn69GlnfsTer?) c.249_250insCAAC (p.Asn84GlnfsTer?) c.246_247insCAAC (p.Asn83GlnfsTer?) c.59-6196_59-6195insCAAC (n.59-6196_59-6195insCAAC) n.464_465insCAAC c.132_133insCAAC (p.Asn45GlnfsTer?) n.511_512insCAAC | COSMIC |
21 | g.34886912del | CA2580098637 | RUNX1 | c.285del (p.Asn96ThrfsTer26) c.204del (p.Asn69ThrfsTer26) c.249del (p.Asn84ThrfsTer26) c.246del (p.Asn83ThrfsTer26) c.59-6196del (n.59-6196del) n.464del c.132del (p.Asn45ThrfsTer26) n.511del | ClinVar |
21 | g.34886909_34886913dup | CA2577483764 | RUNX1 | c.281_285dup (p.Asn96AlafsTer28) c.200_204dup (p.Asn69AlafsTer28) c.245_249dup (p.Asn84AlafsTer28) c.242_246dup (p.Asn83AlafsTer28) c.59-6200_59-6196dup (n.59-6200_59-6196dup) n.460_464dup c.128_132dup (p.Asn45AlafsTer28) n.507_511dup | |
21 | g.34886915_34886916insACCCGGGGCTG | CA2695202537 | RUNX1 | c.285_286insGGGTCAGCCCC (p.Asn96GlyfsTer30) c.204_205insGGGTCAGCCCC (p.Asn69GlyfsTer30) c.249_250insGGGTCAGCCCC (p.Asn84GlyfsTer30) c.246_247insGGGTCAGCCCC (p.Asn83GlyfsTer30) c.59-6196_59-6195insGGGTCAGCCCC (n.59-6196_59-6195insGGGTCAGCCCC) n.464_465insGGGTCAGCCCC c.132_133insGGGTCAGCCCC (p.Asn45GlyfsTer30) n.511_512insGGGTCAGCCCC | |
21 | g.34886909_34886910insCCA | CA645607442 | RUNX1 | c.284_285insTGG (p.Pro95_Asn96insGly) c.203_204insTGG (p.Pro68_Asn69insGly) c.248_249insTGG (p.Pro83_Asn84insGly) c.245_246insTGG (p.Pro82_Asn83insGly) c.59-6197_59-6196insTGG (n.59-6197_59-6196insTGG) n.463_464insTGG c.131_132insTGG (p.Pro44_Asn45insGly) n.510_511insTGG | COSMIC |
21 | g.34886910G>A | CA410203676 | RUNX1 | c.284C>T (p.Pro95Leu) c.203C>T (p.Pro68Leu) c.248C>T (p.Pro83Leu) c.245C>T (p.Pro82Leu) c.59-6197C>T (n.59-6197C>T) n.463C>T c.131C>T (p.Pro44Leu) n.510C>T | ClinVar dbSNP |
21 | g.34886910G>C | CA410203678 | RUNX1 | c.284C>G (p.Pro95Arg) c.203C>G (p.Pro68Arg) c.248C>G (p.Pro83Arg) c.245C>G (p.Pro82Arg) c.59-6197C>G (n.59-6197C>G) n.463C>G c.131C>G (p.Pro44Arg) n.510C>G | |
21 | g.34886910G= | CA2387297141 | RUNX1 | c.284C= (p.Pro95=) c.203C= (p.Pro68=) c.248C= (p.Pro83=) c.245C= (p.Pro82=) c.59-6197C= (n.59-6197C=) n.463C= c.131C= (p.Pro44=) n.510C= | |
21 | g.34886910G>T | CA410203679 | RUNX1 | c.284C>A (p.Pro95His) c.203C>A (p.Pro68His) c.248C>A (p.Pro83His) c.245C>A (p.Pro82His) c.59-6197C>A (n.59-6197C>A) n.463C>A c.131C>A (p.Pro44His) n.510C>A | |
21 | g.34886911G>A | CA410203686 | RUNX1 | c.283C>T (p.Pro95Ser) c.202C>T (p.Pro68Ser) c.247C>T (p.Pro83Ser) c.244C>T (p.Pro82Ser) c.59-6198C>T (n.59-6198C>T) n.462C>T c.130C>T (p.Pro44Ser) n.509C>T | ClinVar dbSNP |
21 | g.34886911G>C | CA410203683 | RUNX1 | c.283C>G (p.Pro95Ala) c.202C>G (p.Pro68Ala) c.247C>G (p.Pro83Ala) c.244C>G (p.Pro82Ala) c.59-6198C>G (n.59-6198C>G) n.462C>G c.130C>G (p.Pro44Ala) n.509C>G | |
21 | g.34886911G= | CA2387297142 | RUNX1 | c.283C= (p.Pro95=) c.202C= (p.Pro68=) c.247C= (p.Pro83=) c.244C= (p.Pro82=) c.59-6198C= (n.59-6198C=) n.462C= c.130C= (p.Pro44=) n.509C= | |
21 | g.34886911G>T | CA410203681 | RUNX1 | c.283C>A (p.Pro95Thr) c.202C>A (p.Pro68Thr) c.247C>A (p.Pro83Thr) c.244C>A (p.Pro82Thr) c.59-6198C>A (n.59-6198C>A) n.462C>A c.130C>A (p.Pro44Thr) n.509C>A | |
21 | g.34886912G>A | CA512318859 | RUNX1 | c.282C>T (p.Ser94=) c.201C>T (p.Ser67=) c.246C>T (p.Ser82=) c.243C>T (p.Ser81=) c.59-6199C>T (n.59-6199C>T) n.461C>T c.129C>T (p.Ser43=) n.508C>T | dbSNP gnomAD v4 |
21 | g.34886912G>C | CA410203689 | RUNX1 | c.282C>G (p.Ser94Arg) c.201C>G (p.Ser67Arg) c.246C>G (p.Ser82Arg) c.243C>G (p.Ser81Arg) c.59-6199C>G (n.59-6199C>G) n.461C>G c.129C>G (p.Ser43Arg) n.508C>G | dbSNP |
21 | g.34886912G>T | CA410203687 | RUNX1 | c.282C>A (p.Ser94Arg) c.201C>A (p.Ser67Arg) c.246C>A (p.Ser82Arg) c.243C>A (p.Ser81Arg) c.59-6199C>A (n.59-6199C>A) n.461C>A c.129C>A (p.Ser43Arg) n.508C>A | |
21 | g.34886913C>A | CA410203692 | RUNX1 | c.281G>T (p.Ser94Ile) c.200G>T (p.Ser67Ile) c.245G>T (p.Ser82Ile) c.242G>T (p.Ser81Ile) c.59-6200G>T (n.59-6200G>T) n.460G>T c.128G>T (p.Ser43Ile) n.507G>T | dbSNP COSMIC |
21 | g.34886913C>G | CA410203693 | RUNX1 | c.281G>C (p.Ser94Thr) c.200G>C (p.Ser67Thr) c.245G>C (p.Ser82Thr) c.242G>C (p.Ser81Thr) c.59-6200G>C (n.59-6200G>C) n.460G>C c.128G>C (p.Ser43Thr) n.507G>C | ClinVar dbSNP |
21 | g.34886913C>T | CA410203694 | RUNX1 | c.281G>A (p.Ser94Asn) c.200G>A (p.Ser67Asn) c.245G>A (p.Ser82Asn) c.242G>A (p.Ser81Asn) c.59-6200G>A (n.59-6200G>A) n.460G>A c.128G>A (p.Ser43Asn) n.507G>A | |
21 | g.34886914T>A | CA410203697 | RUNX1 | c.280A>T (p.Ser94Cys) c.199A>T (p.Ser67Cys) c.244A>T (p.Ser82Cys) c.241A>T (p.Ser81Cys) c.59-6201A>T (n.59-6201A>T) n.459A>T c.127A>T (p.Ser43Cys) n.506A>T | |
21 | g.34886914T>C | CA410203699 | RUNX1 | c.280A>G (p.Ser94Gly) c.199A>G (p.Ser67Gly) c.244A>G (p.Ser82Gly) c.241A>G (p.Ser81Gly) c.59-6201A>G (n.59-6201A>G) n.459A>G c.127A>G (p.Ser43Gly) n.506A>G | |
21 | g.34886914T>G | CA16608536 | RUNX1 | c.280A>C (p.Ser94Arg) c.199A>C (p.Ser67Arg) c.244A>C (p.Ser82Arg) c.241A>C (p.Ser81Arg) c.59-6201A>C (n.59-6201A>C) n.459A>C c.127A>C (p.Ser43Arg) n.506A>C | ClinVar dbSNP |
21 | g.34886914T= | CA2387297143 | RUNX1 | c.280A= (p.Ser94=) c.199A= (p.Ser67=) c.244A= (p.Ser82=) c.241A= (p.Ser81=) c.59-6201A= (n.59-6201A=) n.459A= c.127A= (p.Ser43=) n.506A= | |
21 | g.34886914dup | CA645607443 | RUNX1 | c.280dup (p.Ser94LysfsTer?) c.199dup (p.Ser67LysfsTer?) c.244dup (p.Ser82LysfsTer?) c.241dup (p.Ser81LysfsTer?) c.59-6201dup (n.59-6201dup) n.459dup c.127dup (p.Ser43LysfsTer?) n.506dup | COSMIC COSMIC |
21 | g.34886915G>A | CA512318860 | RUNX1 | c.279C>T (p.Asp93=) c.198C>T (p.Asp66=) c.243C>T (p.Asp81=) c.240C>T (p.Asp80=) c.59-6202C>T (n.59-6202C>T) n.458C>T c.126C>T (p.Asp42=) n.505C>T | dbSNP |
21 | g.34886915G>C | CA410203704 | RUNX1 | c.279C>G (p.Asp93Glu) c.198C>G (p.Asp66Glu) c.243C>G (p.Asp81Glu) c.240C>G (p.Asp80Glu) c.59-6202C>G (n.59-6202C>G) n.458C>G c.126C>G (p.Asp42Glu) n.505C>G | |
21 | g.34886915G>T | CA410203702 | RUNX1 | c.279C>A (p.Asp93Glu) c.198C>A (p.Asp66Glu) c.243C>A (p.Asp81Glu) c.240C>A (p.Asp80Glu) c.59-6202C>A (n.59-6202C>A) n.458C>A c.126C>A (p.Asp42Glu) n.505C>A | |
21 | g.34886916T>A | CA410203705 | RUNX1 | c.278A>T (p.Asp93Val) c.197A>T (p.Asp66Val) c.242A>T (p.Asp81Val) c.239A>T (p.Asp80Val) c.59-6203A>T (n.59-6203A>T) n.457A>T c.125A>T (p.Asp42Val) n.504A>T | dbSNP |
21 | g.34886916T>C | CA410203707 | RUNX1 | c.278A>G (p.Asp93Gly) c.197A>G (p.Asp66Gly) c.242A>G (p.Asp81Gly) c.239A>G (p.Asp80Gly) c.59-6203A>G (n.59-6203A>G) n.457A>G c.125A>G (p.Asp42Gly) n.504A>G | ClinVar dbSNP |
21 | g.34886916T>G | CA410203709 | RUNX1 | c.278A>C (p.Asp93Ala) c.197A>C (p.Asp66Ala) c.242A>C (p.Asp81Ala) c.239A>C (p.Asp80Ala) c.59-6203A>C (n.59-6203A>C) n.457A>C c.125A>C (p.Asp42Ala) n.504A>C | dbSNP |
21 | g.34886917C>A | CA10014556 | RUNX1 | c.277G>T (p.Asp93Tyr) c.196G>T (p.Asp66Tyr) c.241G>T (p.Asp81Tyr) c.238G>T (p.Asp80Tyr) c.59-6204G>T (n.59-6204G>T) n.456G>T c.124G>T (p.Asp42Tyr) n.503G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
21 | g.34886917C= | CA2387297144 | RUNX1 | c.277G= (p.Asp93=) c.196G= (p.Asp66=) c.241G= (p.Asp81=) c.238G= (p.Asp80=) c.59-6204G= (n.59-6204G=) n.456G= c.124G= (p.Asp42=) n.503G= | |
21 | g.34886917C>G | CA410203711 | RUNX1 | c.277G>C (p.Asp93His) c.196G>C (p.Asp66His) c.241G>C (p.Asp81His) c.238G>C (p.Asp80His) c.59-6204G>C (n.59-6204G>C) n.456G>C c.124G>C (p.Asp42His) n.503G>C | dbSNP |
21 | g.34886917C>T | CA410203714 | RUNX1 | c.277G>A (p.Asp93Asn) c.196G>A (p.Asp66Asn) c.241G>A (p.Asp81Asn) c.238G>A (p.Asp80Asn) c.59-6204G>A (n.59-6204G>A) n.456G>A c.124G>A (p.Asp42Asn) n.503G>A | dbSNP gnomAD v2 |
21 | g.34886917dup | CA891842378 | RUNX1 | c.277dup (p.Asp93GlyfsTer?) c.196dup (p.Asp66GlyfsTer?) c.241dup (p.Asp81GlyfsTer?) c.238dup (p.Asp80GlyfsTer?) c.59-6204dup (n.59-6204dup) n.456dup c.124dup (p.Asp42GlyfsTer?) n.503dup | |
21 | g.34886918G>A | CA10014557 | RUNX1 | c.276C>T (p.Thr92=) c.195C>T (p.Thr65=) c.240C>T (p.Thr80=) c.237C>T (p.Thr79=) c.59-6205C>T (n.59-6205C>T) n.455C>T c.123C>T (p.Thr41=) n.502C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886918G>C | CA512318862 | RUNX1 | c.276C>G (p.Thr92=) c.195C>G (p.Thr65=) c.240C>G (p.Thr80=) c.237C>G (p.Thr79=) c.59-6205C>G (n.59-6205C>G) n.455C>G c.123C>G (p.Thr41=) n.502C>G | gnomAD v4 |
21 | g.34886918G= | CA2387297145 | RUNX1 | c.276C= (p.Thr92=) c.195C= (p.Thr65=) c.240C= (p.Thr80=) c.237C= (p.Thr79=) c.59-6205C= (n.59-6205C=) n.455C= c.123C= (p.Thr41=) n.502C= | |
21 | g.34886918G>T | CA512318863 | RUNX1 | c.276C>A (p.Thr92=) c.195C>A (p.Thr65=) c.240C>A (p.Thr80=) c.237C>A (p.Thr79=) c.59-6205C>A (n.59-6205C>A) n.455C>A c.123C>A (p.Thr41=) n.502C>A | |
21 | g.34886919G>A | CA410203718 | RUNX1 | c.275C>T (p.Thr92Ile) c.194C>T (p.Thr65Ile) c.239C>T (p.Thr80Ile) c.236C>T (p.Thr79Ile) c.59-6206C>T (n.59-6206C>T) n.454C>T c.122C>T (p.Thr41Ile) n.501C>T | ClinVar dbSNP |
21 | g.34886919G>C | CA410203721 | RUNX1 | c.275C>G (p.Thr92Ser) c.194C>G (p.Thr65Ser) c.239C>G (p.Thr80Ser) c.236C>G (p.Thr79Ser) c.59-6206C>G (n.59-6206C>G) n.454C>G c.122C>G (p.Thr41Ser) n.501C>G | dbSNP |
21 | g.34886919G>T | CA410203720 | RUNX1 | c.275C>A (p.Thr92Asn) c.194C>A (p.Thr65Asn) c.239C>A (p.Thr80Asn) c.236C>A (p.Thr79Asn) c.59-6206C>A (n.59-6206C>A) n.454C>A c.122C>A (p.Thr41Asn) n.501C>A | |
21 | g.34886920T>A | CA410203723 | RUNX1 | c.274A>T (p.Thr92Ser) c.193A>T (p.Thr65Ser) c.238A>T (p.Thr80Ser) c.235A>T (p.Thr79Ser) c.59-6207A>T (n.59-6207A>T) n.453A>T c.121A>T (p.Thr41Ser) n.500A>T | dbSNP |
21 | g.34886920T>C | CA410203725 | RUNX1 | c.274A>G (p.Thr92Ala) c.193A>G (p.Thr65Ala) c.238A>G (p.Thr80Ala) c.235A>G (p.Thr79Ala) c.59-6207A>G (n.59-6207A>G) n.453A>G c.121A>G (p.Thr41Ala) n.500A>G | dbSNP COSMIC COSMIC |
21 | g.34886920T>G | CA410203727 | RUNX1 | c.274A>C (p.Thr92Pro) c.193A>C (p.Thr65Pro) c.238A>C (p.Thr80Pro) c.235A>C (p.Thr79Pro) c.59-6207A>C (n.59-6207A>C) n.453A>C c.121A>C (p.Thr41Pro) n.500A>C | dbSNP |
21 | g.34886921G>A | CA512318866 | RUNX1 | c.273C>T (p.Arg91=) c.192C>T (p.Arg64=) c.237C>T (p.Arg79=) c.234C>T (p.Arg78=) c.59-6208C>T (n.59-6208C>T) n.452C>T c.120C>T (p.Arg40=) n.499C>T | dbSNP |
21 | g.34886921G>C | CA512318865 | RUNX1 | c.273C>G (p.Arg91=) c.192C>G (p.Arg64=) c.237C>G (p.Arg79=) c.234C>G (p.Arg78=) c.59-6208C>G (n.59-6208C>G) n.452C>G c.120C>G (p.Arg40=) n.499C>G | |
21 | g.34886921G>T | CA512318864 | RUNX1 | c.273C>A (p.Arg91=) c.192C>A (p.Arg64=) c.237C>A (p.Arg79=) c.234C>A (p.Arg78=) c.59-6208C>A (n.59-6208C>A) n.452C>A c.120C>A (p.Arg40=) n.499C>A | |
21 | g.34886922C>A | CA410203729 | RUNX1 | c.272G>T (p.Arg91Leu) c.191G>T (p.Arg64Leu) c.236G>T (p.Arg79Leu) c.233G>T (p.Arg78Leu) c.59-6209G>T (n.59-6209G>T) n.451G>T c.119G>T (p.Arg40Leu) n.498G>T | dbSNP |
21 | g.34886922C= | CA2387297146 | RUNX1 | c.272G= (p.Arg91=) c.191G= (p.Arg64=) c.236G= (p.Arg79=) c.233G= (p.Arg78=) c.59-6209G= (n.59-6209G=) n.451G= c.119G= (p.Arg40=) n.498G= | |
21 | g.34886922C>G | CA410203731 | RUNX1 | c.272G>C (p.Arg91Pro) c.191G>C (p.Arg64Pro) c.236G>C (p.Arg79Pro) c.233G>C (p.Arg78Pro) c.59-6209G>C (n.59-6209G>C) n.451G>C c.119G>C (p.Arg40Pro) n.498G>C | dbSNP |
21 | g.34886922C>T | CA410203733 | RUNX1 | c.272G>A (p.Arg91His) c.191G>A (p.Arg64His) c.236G>A (p.Arg79His) c.233G>A (p.Arg78His) c.59-6209G>A (n.59-6209G>A) n.451G>A c.119G>A (p.Arg40His) n.498G>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886922_34886923insA | CA645607444 | RUNX1 | c.271_272insT (p.Arg91LeufsTer?) c.190_191insT (p.Arg64LeufsTer?) c.235_236insT (p.Arg79LeufsTer?) c.232_233insT (p.Arg78LeufsTer?) c.59-6210_59-6209insT (n.59-6210_59-6209insT) n.450_451insT c.118_119insT (p.Arg40LeufsTer?) n.497_498insT | COSMIC COSMIC |
21 | g.34886923G>A | CA410203735 | RUNX1 | c.271C>T (p.Arg91Cys) c.190C>T (p.Arg64Cys) c.235C>T (p.Arg79Cys) c.232C>T (p.Arg78Cys) c.59-6210C>T (n.59-6210C>T) n.450C>T c.118C>T (p.Arg40Cys) n.497C>T | dbSNP |
21 | g.34886923G>C | CA410203737 | RUNX1 | c.271C>G (p.Arg91Gly) c.190C>G (p.Arg64Gly) c.235C>G (p.Arg79Gly) c.232C>G (p.Arg78Gly) c.59-6210C>G (n.59-6210C>G) n.450C>G c.118C>G (p.Arg40Gly) n.497C>G | dbSNP |
21 | g.34886923G= | CA2387297147 | RUNX1 | c.271C= (p.Arg91=) c.190C= (p.Arg64=) c.235C= (p.Arg79=) c.232C= (p.Arg78=) c.59-6210C= (n.59-6210C=) n.450C= c.118C= (p.Arg40=) n.497C= | |
21 | g.34886923G>T | CA410203738 | RUNX1 | c.271C>A (p.Arg91Ser) c.190C>A (p.Arg64Ser) c.235C>A (p.Arg79Ser) c.232C>A (p.Arg78Ser) c.59-6210C>A (n.59-6210C>A) n.450C>A c.118C>A (p.Arg40Ser) n.497C>A | dbSNP gnomAD v4 |
21 | g.34886924C>A | CA512318869 | RUNX1 | c.270G>T (p.Val90=) c.189G>T (p.Val63=) c.234G>T (p.Val78=) c.231G>T (p.Val77=) c.59-6211G>T (n.59-6211G>T) n.449G>T c.117G>T (p.Val39=) n.496G>T | dbSNP |
21 | g.34886924C>G | CA512318867 | RUNX1 | c.270G>C (p.Val90=) c.189G>C (p.Val63=) c.234G>C (p.Val78=) c.231G>C (p.Val77=) c.59-6211G>C (n.59-6211G>C) n.449G>C c.117G>C (p.Val39=) n.496G>C | |
21 | g.34886924C>T | CA512318868 | RUNX1 | c.270G>A (p.Val90=) c.189G>A (p.Val63=) c.234G>A (p.Val78=) c.231G>A (p.Val77=) c.59-6211G>A (n.59-6211G>A) n.449G>A c.117G>A (p.Val39=) n.496G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34886924dup | CA1139666850 | RUNX1 | c.270dup (p.Arg91AlafsTer?) c.189dup (p.Arg64AlafsTer?) c.234dup (p.Arg79AlafsTer?) c.231dup (p.Arg78AlafsTer?) c.59-6211dup (n.59-6211dup) n.449dup c.117dup (p.Arg40AlafsTer?) n.496dup | ClinVar dbSNP |
21 | g.34886924_34886927del | CA645607445 | RUNX1 | c.267_270del (p.Val90AlafsTer?) c.186_189del (p.Val63AlafsTer?) c.231_234del (p.Val78AlafsTer?) c.228_231del (p.Val77AlafsTer?) c.59-6214_59-6211del (n.59-6214_59-6211del) n.446_449del c.114_117del (p.Val39AlafsTer?) n.493_496del | COSMIC |
21 | g.34886925A>C | CA410203740 | RUNX1 | c.269T>G (p.Val90Gly) c.188T>G (p.Val63Gly) c.233T>G (p.Val78Gly) c.230T>G (p.Val77Gly) c.59-6212T>G (n.59-6212T>G) n.448T>G c.116T>G (p.Val39Gly) n.495T>G | |
21 | g.34886925A>G | CA410203742 | RUNX1 | c.269T>C (p.Val90Ala) c.188T>C (p.Val63Ala) c.233T>C (p.Val78Ala) c.230T>C (p.Val77Ala) c.59-6212T>C (n.59-6212T>C) n.448T>C c.116T>C (p.Val39Ala) n.495T>C | COSMIC |
21 | g.34886925A>T | CA410203744 | RUNX1 | c.269T>A (p.Val90Glu) c.188T>A (p.Val63Glu) c.233T>A (p.Val78Glu) c.230T>A (p.Val77Glu) c.59-6212T>A (n.59-6212T>A) n.448T>A c.116T>A (p.Val39Glu) n.495T>A | |
21 | g.34886925_34886926insAGGTGCG | CA645607446 | RUNX1 | c.268_269insCGCACCT (p.Val90AlafsTer?) c.187_188insCGCACCT (p.Val63AlafsTer?) c.232_233insCGCACCT (p.Val78AlafsTer?) c.229_230insCGCACCT (p.Val77AlafsTer?) c.59-6213_59-6212insCGCACCT (n.59-6213_59-6212insCGCACCT) n.447_448insCGCACCT c.115_116insCGCACCT (p.Val39AlafsTer?) n.494_495insCGCACCT | COSMIC |
21 | g.34886926C>A | CA410203746 | RUNX1 | c.268G>T (p.Val90Leu) c.187G>T (p.Val63Leu) c.232G>T (p.Val78Leu) c.229G>T (p.Val77Leu) c.59-6213G>T (n.59-6213G>T) n.447G>T c.115G>T (p.Val39Leu) n.494G>T | |
21 | g.34886926C= | CA2387297148 | RUNX1 | c.268G= (p.Val90=) c.187G= (p.Val63=) c.232G= (p.Val78=) c.229G= (p.Val77=) c.59-6213G= (n.59-6213G=) n.447G= c.115G= (p.Val39=) n.494G= | |
21 | g.34886926C>G | CA410203749 | RUNX1 | c.268G>C (p.Val90Leu) c.187G>C (p.Val63Leu) c.232G>C (p.Val78Leu) c.229G>C (p.Val77Leu) c.59-6213G>C (n.59-6213G>C) n.447G>C c.115G>C (p.Val39Leu) n.494G>C | dbSNP gnomAD v4 |
21 | g.34886926C>T | CA410203747 | RUNX1 | c.268G>A (p.Val90Met) c.187G>A (p.Val63Met) c.232G>A (p.Val78Met) c.229G>A (p.Val77Met) c.59-6213G>A (n.59-6213G>A) n.447G>A c.115G>A (p.Val39Met) n.494G>A | ClinVar dbSNP |
21 | g.34886927del | CA2580098639 | RUNX1 | c.268del (p.Val90CysfsTer?) c.187del (p.Val63CysfsTer?) c.232del (p.Val78CysfsTer?) c.229del (p.Val77CysfsTer?) c.59-6213del (n.59-6213del) n.447del c.115del (p.Val39CysfsTer?) n.494del | ClinVar dbSNP |
21 | g.34886927C>A | CA512318872 | RUNX1 | c.267G>T (p.Leu89=) c.186G>T (p.Leu62=) c.231G>T (p.Leu77=) c.228G>T (p.Leu76=) c.59-6214G>T (n.59-6214G>T) n.446G>T c.114G>T (p.Leu38=) n.493G>T | |
21 | g.34886927C>G | CA512318870 | RUNX1 | c.267G>C (p.Leu89=) c.186G>C (p.Leu62=) c.231G>C (p.Leu77=) c.228G>C (p.Leu76=) c.59-6214G>C (n.59-6214G>C) n.446G>C c.114G>C (p.Leu38=) n.493G>C | |
21 | g.34886927C>T | CA512318871 | RUNX1 | c.267G>A (p.Leu89=) c.186G>A (p.Leu62=) c.231G>A (p.Leu77=) c.228G>A (p.Leu76=) c.59-6214G>A (n.59-6214G>A) n.446G>A c.114G>A (p.Leu38=) n.493G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34886928A>C | CA410203750 | RUNX1 | c.266T>G (p.Leu89Arg) c.185T>G (p.Leu62Arg) c.230T>G (p.Leu77Arg) c.227T>G (p.Leu76Arg) c.59-6215T>G (n.59-6215T>G) n.445T>G c.113T>G (p.Leu38Arg) n.492T>G | dbSNP COSMIC |
21 | g.34886928A>G | CA410203752 | RUNX1 | c.266T>C (p.Leu89Pro) c.185T>C (p.Leu62Pro) c.230T>C (p.Leu77Pro) c.227T>C (p.Leu76Pro) c.59-6215T>C (n.59-6215T>C) n.445T>C c.113T>C (p.Leu38Pro) n.492T>C | dbSNP |
21 | g.34886928A>T | CA410203753 | RUNX1 | c.266T>A (p.Leu89Gln) c.185T>A (p.Leu62Gln) c.230T>A (p.Leu77Gln) c.227T>A (p.Leu76Gln) c.59-6215T>A (n.59-6215T>A) n.445T>A c.113T>A (p.Leu38Gln) n.492T>A | dbSNP |
21 | g.34886928_34886929insTGGT | CA2577483765 | RUNX1 | c.265_266insACCA (p.Leu89HisfsTer?) c.184_185insACCA (p.Leu62HisfsTer?) c.229_230insACCA (p.Leu77HisfsTer?) c.226_227insACCA (p.Leu76HisfsTer?) c.59-6216_59-6215insACCA (n.59-6216_59-6215insACCA) n.444_445insACCA c.112_113insACCA (p.Leu38HisfsTer?) n.491_492insACCA | |
21 | g.34886929G>A | CA16616271 | RUNX1 | c.265C>T (p.Leu89=) c.184C>T (p.Leu62=) c.229C>T (p.Leu77=) c.226C>T (p.Leu76=) c.59-6216C>T (n.59-6216C>T) n.444C>T c.112C>T (p.Leu38=) n.491C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34886929G>C | CA410203755 | RUNX1 | c.265C>G (p.Leu89Val) c.184C>G (p.Leu62Val) c.229C>G (p.Leu77Val) c.226C>G (p.Leu76Val) c.59-6216C>G (n.59-6216C>G) n.444C>G c.112C>G (p.Leu38Val) n.491C>G | dbSNP |
21 | g.34886929G= | CA2387297149 | RUNX1 | c.265C= (p.Leu89=) c.184C= (p.Leu62=) c.229C= (p.Leu77=) c.226C= (p.Leu76=) c.59-6216C= (n.59-6216C=) n.444C= c.112C= (p.Leu38=) n.491C= | |
21 | g.34886929G>T | CA410203757 | RUNX1 | c.265C>A (p.Leu89Met) c.184C>A (p.Leu62Met) c.229C>A (p.Leu77Met) c.226C>A (p.Leu76Met) c.59-6216C>A (n.59-6216C>A) n.444C>A c.112C>A (p.Leu38Met) n.491C>A | |
21 | g.34886929dup | CA645607447 | RUNX1 | c.265dup (p.Leu89ProfsTer?) c.184dup (p.Leu62ProfsTer?) c.229dup (p.Leu77ProfsTer?) c.226dup (p.Leu76ProfsTer?) c.59-6216dup (n.59-6216dup) n.444dup c.112dup (p.Leu38ProfsTer?) n.491dup | COSMIC |
21 | g.34886930C>A | CA410203759 | RUNX1 | c.264G>T (p.Glu88Asp) c.183G>T (p.Glu61Asp) c.228G>T (p.Glu76Asp) c.225G>T (p.Glu75Asp) c.59-6217G>T (n.59-6217G>T) n.443G>T c.111G>T (p.Glu37Asp) n.490G>T | ClinVar dbSNP |
21 | g.34886930C= | CA2387297150 | RUNX1 | c.264G= (p.Glu88=) c.183G= (p.Glu61=) c.228G= (p.Glu76=) c.225G= (p.Glu75=) c.59-6217G= (n.59-6217G=) n.443G= c.111G= (p.Glu37=) n.490G= | |
21 | g.34886930C>G | CA10014558 | RUNX1 | c.264G>C (p.Glu88Asp) c.183G>C (p.Glu61Asp) c.228G>C (p.Glu76Asp) c.225G>C (p.Glu75Asp) c.59-6217G>C (n.59-6217G>C) n.443G>C c.111G>C (p.Glu37Asp) n.490G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886930C>T | CA512318873 | RUNX1 | c.264G>A (p.Glu88=) c.183G>A (p.Glu61=) c.228G>A (p.Glu76=) c.225G>A (p.Glu75=) c.59-6217G>A (n.59-6217G>A) n.443G>A c.111G>A (p.Glu37=) n.490G>A | |
21 | g.34886931T>A | CA410203761 | RUNX1 | c.263A>T (p.Glu88Val) c.182A>T (p.Glu61Val) c.227A>T (p.Glu76Val) c.224A>T (p.Glu75Val) c.59-6218A>T (n.59-6218A>T) n.442A>T c.110A>T (p.Glu37Val) n.489A>T | dbSNP |
21 | g.34886931T>C | CA410203763 | RUNX1 | c.263A>G (p.Glu88Gly) c.182A>G (p.Glu61Gly) c.227A>G (p.Glu76Gly) c.224A>G (p.Glu75Gly) c.59-6218A>G (n.59-6218A>G) n.442A>G c.110A>G (p.Glu37Gly) n.489A>G | dbSNP |
21 | g.34886931T>G | CA320642675 | RUNX1 | c.263A>C (p.Glu88Ala) c.182A>C (p.Glu61Ala) c.227A>C (p.Glu76Ala) c.224A>C (p.Glu75Ala) c.59-6218A>C (n.59-6218A>C) n.442A>C c.110A>C (p.Glu37Ala) n.489A>C | dbSNP |
21 | g.34886931T= | CA2387297151 | RUNX1 | c.263A= (p.Glu88=) c.182A= (p.Glu61=) c.227A= (p.Glu76=) c.224A= (p.Glu75=) c.59-6218A= (n.59-6218A=) n.442A= c.110A= (p.Glu37=) n.489A= | |
21 | g.34886932C>A | CA410203766 | RUNX1 | c.262G>T (p.Glu88Ter) c.181G>T (p.Glu61Ter) c.226G>T (p.Glu76Ter) c.223G>T (p.Glu75Ter) c.59-6219G>T (n.59-6219G>T) n.441G>T c.109G>T (p.Glu37Ter) n.488G>T | gnomAD v4 COSMIC |
21 | g.34886932C= | CA2387297152 | RUNX1 | c.262G= (p.Glu88=) c.181G= (p.Glu61=) c.226G= (p.Glu76=) c.223G= (p.Glu75=) c.59-6219G= (n.59-6219G=) n.441G= c.109G= (p.Glu37=) n.488G= | |
21 | g.34886932C>G | CA410203767 | RUNX1 | c.262G>C (p.Glu88Gln) c.181G>C (p.Glu61Gln) c.226G>C (p.Glu76Gln) c.223G>C (p.Glu75Gln) c.59-6219G>C (n.59-6219G>C) n.441G>C c.109G>C (p.Glu37Gln) n.488G>C | ClinVar dbSNP |
21 | g.34886932C>T | CA410203769 | RUNX1 | c.262G>A (p.Glu88Lys) c.181G>A (p.Glu61Lys) c.226G>A (p.Glu76Lys) c.223G>A (p.Glu75Lys) c.59-6219G>A (n.59-6219G>A) n.441G>A c.109G>A (p.Glu37Lys) n.488G>A | dbSNP gnomAD v3 gnomAD v4 |
21 | g.34886933G>A | CA512318875 | RUNX1 | c.261C>T (p.Gly87=) c.180C>T (p.Gly60=) c.225C>T (p.Gly75=) c.222C>T (p.Gly74=) c.59-6220C>T (n.59-6220C>T) n.440C>T c.108C>T (p.Gly36=) n.487C>T | ClinVar dbSNP |
21 | g.34886933G>C | CA512318876 | RUNX1 | c.261C>G (p.Gly87=) c.180C>G (p.Gly60=) c.225C>G (p.Gly75=) c.222C>G (p.Gly74=) c.59-6220C>G (n.59-6220C>G) n.440C>G c.108C>G (p.Gly36=) n.487C>G | ClinVar dbSNP |
21 | g.34886933G>T | CA512318874 | RUNX1 | c.261C>A (p.Gly87=) c.180C>A (p.Gly60=) c.225C>A (p.Gly75=) c.222C>A (p.Gly74=) c.59-6220C>A (n.59-6220C>A) n.440C>A c.108C>A (p.Gly36=) n.487C>A | ClinVar |
21 | g.34886934C>A | CA410203775 | RUNX1 | c.260G>T (p.Gly87Val) c.179G>T (p.Gly60Val) c.224G>T (p.Gly75Val) c.221G>T (p.Gly74Val) c.59-6221G>T (n.59-6221G>T) n.439G>T c.107G>T (p.Gly36Val) n.486G>T | |
21 | g.34886934C>G | CA410203771 | RUNX1 | c.260G>C (p.Gly87Ala) c.179G>C (p.Gly60Ala) c.224G>C (p.Gly75Ala) c.221G>C (p.Gly74Ala) c.59-6221G>C (n.59-6221G>C) n.439G>C c.107G>C (p.Gly36Ala) n.486G>C | dbSNP |
21 | g.34886934C>T | CA410203773 | RUNX1 | c.260G>A (p.Gly87Asp) c.179G>A (p.Gly60Asp) c.224G>A (p.Gly75Asp) c.221G>A (p.Gly74Asp) c.59-6221G>A (n.59-6221G>A) n.439G>A c.107G>A (p.Gly36Asp) n.486G>A | dbSNP |
21 | g.34886934_34886935delinsTT | CA2573157361 | RUNX1 | c.259_260delinsAA (p.Gly87Asn) c.178_179delinsAA (p.Gly60Asn) c.223_224delinsAA (p.Gly75Asn) c.220_221delinsAA (p.Gly74Asn) c.59-6222_59-6221delinsAA (n.59-6222_59-6221delinsAA) n.438_439delinsAA c.106_107delinsAA (p.Gly36Asn) n.485_486delinsAA | ClinVar dbSNP |
21 | g.34886935_34886936dup | CA2573157362 | RUNX1 | c.259_260dup (p.Glu88AlafsTer?) c.178_179dup (p.Glu61AlafsTer?) c.223_224dup (p.Glu76AlafsTer?) c.220_221dup (p.Glu75AlafsTer?) c.59-6222_59-6221dup (n.59-6222_59-6221dup) n.438_439dup c.106_107dup (p.Glu37AlafsTer?) n.485_486dup | ClinVar dbSNP |
21 | g.34886935C>A | CA10014559 | RUNX1 | c.259G>T (p.Gly87Cys) c.178G>T (p.Gly60Cys) c.223G>T (p.Gly75Cys) c.220G>T (p.Gly74Cys) c.59-6222G>T (n.59-6222G>T) n.438G>T c.106G>T (p.Gly36Cys) n.485G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886935C= | CA2387297153 | RUNX1 | c.259G= (p.Gly87=) c.178G= (p.Gly60=) c.223G= (p.Gly75=) c.220G= (p.Gly74=) c.59-6222G= (n.59-6222G=) n.438G= c.106G= (p.Gly36=) n.485G= | |
21 | g.34886935C>G | CA410203778 | RUNX1 | c.259G>C (p.Gly87Arg) c.178G>C (p.Gly60Arg) c.223G>C (p.Gly75Arg) c.220G>C (p.Gly74Arg) c.59-6222G>C (n.59-6222G>C) n.438G>C c.106G>C (p.Gly36Arg) n.485G>C | dbSNP |
21 | g.34886935C>T | CA410203780 | RUNX1 | c.259G>A (p.Gly87Ser) c.178G>A (p.Gly60Ser) c.223G>A (p.Gly75Ser) c.220G>A (p.Gly74Ser) c.59-6222G>A (n.59-6222G>A) n.438G>A c.106G>A (p.Gly36Ser) n.485G>A | |
21 | g.34886935_34886937delinsCCG | CA2387297154 | RUNX1 | c.257_259delinsCGG (p.Pro86=) c.176_178delinsCGG (p.Pro59=) c.221_223delinsCGG (p.Pro74=) c.218_220delinsCGG (p.Pro73=) c.59-6224_59-6222delinsCGG (n.59-6224_59-6222delinsCGG) n.436_438delinsCGG c.104_106delinsCGG (p.Pro35=) n.483_485delinsCGG | |
21 | g.34886936C>A | CA512318877 | RUNX1 | c.258G>T (p.Pro86=) c.177G>T (p.Pro59=) c.222G>T (p.Pro74=) c.219G>T (p.Pro73=) c.59-6223G>T (n.59-6223G>T) n.437G>T c.105G>T (p.Pro35=) n.484G>T | |
21 | g.34886936C= | CA2387297155 | RUNX1 | c.258G= (p.Pro86=) c.177G= (p.Pro59=) c.222G= (p.Pro74=) c.219G= (p.Pro73=) c.59-6223G= (n.59-6223G=) n.437G= c.105G= (p.Pro35=) n.484G= | |
21 | g.34886936C>G | CA320642680 | RUNX1 | c.258G>C (p.Pro86=) c.177G>C (p.Pro59=) c.222G>C (p.Pro74=) c.219G>C (p.Pro73=) c.59-6223G>C (n.59-6223G>C) n.437G>C c.105G>C (p.Pro35=) n.484G>C | ClinVar dbSNP |
21 | g.34886936C>T | CA320642685 | RUNX1 | c.258G>A (p.Pro86=) c.177G>A (p.Pro59=) c.222G>A (p.Pro74=) c.219G>A (p.Pro73=) c.59-6223G>A (n.59-6223G>A) n.437G>A c.105G>A (p.Pro35=) n.484G>A | ClinVar dbSNP |
21 | g.34886936_34886937insAC | CA645607448 | RUNX1 | c.258_259insTG (p.Gly87TrpfsTer?) c.177_178insTG (p.Gly60TrpfsTer?) c.222_223insTG (p.Gly75TrpfsTer?) c.219_220insTG (p.Gly74TrpfsTer?) c.59-6223_59-6222insTG (n.59-6223_59-6222insTG) n.437_438insTG c.105_106insTG (p.Gly36TrpfsTer?) n.484_485insTG | COSMIC COSMIC |
21 | g.34886936_34886937del | CA10014560 | RUNX1 | c.257_258del (p.Pro86ArgfsTer?) c.176_177del (p.Pro59ArgfsTer?) c.221_222del (p.Pro74ArgfsTer?) c.218_219del (p.Pro73ArgfsTer?) c.59-6224_59-6223del (n.59-6224_59-6223del) n.436_437del c.104_105del (p.Pro35ArgfsTer?) n.483_484del | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34886937G>A | CA410203786 | RUNX1 | c.257C>T (p.Pro86Leu) c.176C>T (p.Pro59Leu) c.221C>T (p.Pro74Leu) c.218C>T (p.Pro73Leu) c.59-6224C>T (n.59-6224C>T) n.436C>T c.104C>T (p.Pro35Leu) n.483C>T | ClinVar dbSNP gnomAD v4 |
21 | g.34886937G>C | CA410203788 | RUNX1 | c.257C>G (p.Pro86Arg) c.176C>G (p.Pro59Arg) c.221C>G (p.Pro74Arg) c.218C>G (p.Pro73Arg) c.59-6224C>G (n.59-6224C>G) n.436C>G c.104C>G (p.Pro35Arg) n.483C>G | dbSNP |
21 | g.34886937G= | CA2387297156 | RUNX1 | c.257C= (p.Pro86=) c.176C= (p.Pro59=) c.221C= (p.Pro74=) c.218C= (p.Pro73=) c.59-6224C= (n.59-6224C=) n.436C= c.104C= (p.Pro35=) n.483C= | |
21 | g.34886937G>T | CA410203790 | RUNX1 | c.257C>A (p.Pro86Gln) c.176C>A (p.Pro59Gln) c.221C>A (p.Pro74Gln) c.218C>A (p.Pro73Gln) c.59-6224C>A (n.59-6224C>A) n.436C>A c.104C>A (p.Pro35Gln) n.483C>A | |
21 | g.34886939del | CA891842379 | RUNX1 | c.257del (p.Pro86ArgfsTer?) c.176del (p.Pro59ArgfsTer?) c.221del (p.Pro74ArgfsTer?) c.218del (p.Pro73ArgfsTer?) c.59-6224del (n.59-6224del) n.436del c.104del (p.Pro35ArgfsTer?) n.483del | dbSNP |
21 | g.34886938G>A | CA410203791 | RUNX1 | c.256C>T (p.Pro86Ser) c.175C>T (p.Pro59Ser) c.220C>T (p.Pro74Ser) c.217C>T (p.Pro73Ser) c.59-6225C>T (n.59-6225C>T) n.435C>T c.103C>T (p.Pro35Ser) n.482C>T | dbSNP gnomAD v4 |
21 | g.34886938G>C | CA320642689 | RUNX1 | c.256C>G (p.Pro86Ala) c.175C>G (p.Pro59Ala) c.220C>G (p.Pro74Ala) c.217C>G (p.Pro73Ala) c.59-6225C>G (n.59-6225C>G) n.435C>G c.103C>G (p.Pro35Ala) n.482C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34886938G= | CA2387297157 | RUNX1 | c.256C= (p.Pro86=) c.175C= (p.Pro59=) c.220C= (p.Pro74=) c.217C= (p.Pro73=) c.59-6225C= (n.59-6225C=) n.435C= c.103C= (p.Pro35=) n.482C= | |
21 | g.34886938G>T | CA410203793 | RUNX1 | c.256C>A (p.Pro86Thr) c.175C>A (p.Pro59Thr) c.220C>A (p.Pro74Thr) c.217C>A (p.Pro73Thr) c.59-6225C>A (n.59-6225C>A) n.435C>A c.103C>A (p.Pro35Thr) n.482C>A | |
21 | g.34886939G>A | CA320642691 | RUNX1 | c.255C>T (p.His85=) c.174C>T (p.His58=) c.219C>T (p.His73=) c.216C>T (p.His72=) c.59-6226C>T (n.59-6226C>T) n.434C>T c.102C>T (p.His34=) n.481C>T | ClinVar dbSNP gnomAD v4 |
21 | g.34886939G>C | CA320642694 | RUNX1 | c.255C>G (p.His85Gln) c.174C>G (p.His58Gln) c.219C>G (p.His73Gln) c.216C>G (p.His72Gln) c.59-6226C>G (n.59-6226C>G) n.434C>G c.102C>G (p.His34Gln) n.481C>G | dbSNP |
21 | g.34886939G= | CA2387297158 | RUNX1 | c.255C= (p.His85=) c.174C= (p.His58=) c.219C= (p.His73=) c.216C= (p.His72=) c.59-6226C= (n.59-6226C=) n.434C= c.102C= (p.His34=) n.481C= | |
21 | g.34886939G>T | CA410203794 | RUNX1 | c.255C>A (p.His85Gln) c.174C>A (p.His58Gln) c.219C>A (p.His73Gln) c.216C>A (p.His72Gln) c.59-6226C>A (n.59-6226C>A) n.434C>A c.102C>A (p.His34Gln) n.481C>A | |
21 | g.34886939_34886940insCA | CA10014561 | RUNX1 | c.254_255insTG (p.Pro86AlafsTer?) c.173_174insTG (p.Pro59AlafsTer?) c.218_219insTG (p.Pro74AlafsTer?) c.215_216insTG (p.Pro73AlafsTer?) c.59-6227_59-6226insTG (n.59-6227_59-6226insTG) n.433_434insTG c.101_102insTG (p.Pro35AlafsTer?) n.480_481insTG | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34886940T>A | CA410203796 | RUNX1 | c.254A>T (p.His85Leu) c.173A>T (p.His58Leu) c.218A>T (p.His73Leu) c.215A>T (p.His72Leu) c.59-6227A>T (n.59-6227A>T) n.433A>T c.101A>T (p.His34Leu) n.480A>T | |
21 | g.34886940T>C | CA410203797 | RUNX1 | c.254A>G (p.His85Arg) c.173A>G (p.His58Arg) c.218A>G (p.His73Arg) c.215A>G (p.His72Arg) c.59-6227A>G (n.59-6227A>G) n.433A>G c.101A>G (p.His34Arg) n.480A>G | |
21 | g.34886940T>G | CA410203795 | RUNX1 | c.254A>C (p.His85Pro) c.173A>C (p.His58Pro) c.218A>C (p.His73Pro) c.215A>C (p.His72Pro) c.59-6227A>C (n.59-6227A>C) n.433A>C c.101A>C (p.His34Pro) n.480A>C | |
21 | g.34886940_34886967delinsTGGTCGGCCAGCACCTCCACCATGCTGC | CA2387297159 | RUNX1 | c.227_254delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg76=) c.146_173delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg49=) c.191_218delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg64=) c.188_215delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg63=) c.59-6254_59-6227delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (n.59-6254_59-6227delinsGCAGCATGGTGGAGGTGCTGGCCGACCA) n.406_433delinsGCAGCATGGTGGAGGTGCTGGCCGACCA c.74_101delinsGCAGCATGGTGGAGGTGCTGGCCGACCA (p.Arg25=) n.453_480delinsGCAGCATGGTGGAGGTGCTGGCCGACCA | |
21 | g.34886940_34886941insCC | CA2695202277 | RUNX1 | c.253_254insGG (p.His85ArgfsTer?) c.172_173insGG (p.His58ArgfsTer?) c.217_218insGG (p.His73ArgfsTer?) c.214_215insGG (p.His72ArgfsTer?) c.59-6228_59-6227insGG (n.59-6228_59-6227insGG) n.432_433insGG c.100_101insGG (p.His34ArgfsTer?) n.479_480insGG | |
21 | g.34886940_34886941insCCCC | CA2499225882 | RUNX1 | c.253_254insGGGG (p.His85ArgfsTer?) c.172_173insGGGG (p.His58ArgfsTer?) c.217_218insGGGG (p.His73ArgfsTer?) c.214_215insGGGG (p.His72ArgfsTer?) c.59-6228_59-6227insGGGG (n.59-6228_59-6227insGGGG) n.432_433insGGGG c.100_101insGGGG (p.His34ArgfsTer?) n.479_480insGGGG | ClinVar dbSNP |
21 | g.34886941G>A | CA410203798 | RUNX1 | c.253C>T (p.His85Tyr) c.172C>T (p.His58Tyr) c.217C>T (p.His73Tyr) c.214C>T (p.His72Tyr) c.59-6228C>T (n.59-6228C>T) n.432C>T c.100C>T (p.His34Tyr) n.479C>T | ClinVar dbSNP |
21 | g.34886941G>C | CA410203799 | RUNX1 | c.253C>G (p.His85Asp) c.172C>G (p.His58Asp) c.217C>G (p.His73Asp) c.214C>G (p.His72Asp) c.59-6228C>G (n.59-6228C>G) n.432C>G c.100C>G (p.His34Asp) n.479C>G | |
21 | g.34886941G= | CA2387297161 | RUNX1 | c.253C= (p.His85=) c.172C= (p.His58=) c.217C= (p.His73=) c.214C= (p.His72=) c.59-6228C= (n.59-6228C=) n.432C= c.100C= (p.His34=) n.479C= | |
21 | g.34886941G>T | CA123975 | RUNX1 | c.253C>A (p.His85Asn) c.172C>A (p.His58Asn) c.217C>A (p.His73Asn) c.214C>A (p.His72Asn) c.59-6228C>A (n.59-6228C>A) n.432C>A c.100C>A (p.His34Asn) n.479C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.34886942dup | CA645607449 | RUNX1 | c.253dup (p.His85ProfsTer?) c.172dup (p.His58ProfsTer?) c.217dup (p.His73ProfsTer?) c.214dup (p.His72ProfsTer?) c.59-6228dup (n.59-6228dup) n.432dup c.100dup (p.His34ProfsTer?) n.479dup | COSMIC COSMIC |
21 | g.34886941_34886942dup | CA915940742 | RUNX1 | c.252_253dup (p.His85ProfsTer?) c.171_172dup (p.His58ProfsTer?) c.216_217dup (p.His73ProfsTer?) c.213_214dup (p.His72ProfsTer?) c.59-6229_59-6228dup (n.59-6229_59-6228dup) n.431_432dup c.99_100dup (p.His34ProfsTer?) n.478_479dup | |
21 | g.34886946_34886972del | CA2387297160 | RUNX1 | c.227_253del (p.Arg76_Asp84del) c.146_172del (p.Arg49_Asp57del) c.191_217del (p.Arg64_Asp72del) c.188_214del (p.Arg63_Asp71del) c.59-6254_59-6228del (n.59-6254_59-6228del) n.406_432del c.74_100del (p.Arg25_Asp33del) n.453_479del | dbSNP |
21 | g.34886942G>A | CA512318887 | RUNX1 | c.252C>T (p.Asp84=) c.171C>T (p.Asp57=) c.216C>T (p.Asp72=) c.213C>T (p.Asp71=) c.59-6229C>T (n.59-6229C>T) n.431C>T c.99C>T (p.Asp33=) n.478C>T | dbSNP gnomAD v4 |
21 | g.34886942G>C | CA16622098 | RUNX1 | c.252C>G (p.Asp84Glu) c.171C>G (p.Asp57Glu) c.216C>G (p.Asp72Glu) c.213C>G (p.Asp71Glu) c.59-6229C>G (n.59-6229C>G) n.431C>G c.99C>G (p.Asp33Glu) n.478C>G | ClinVar dbSNP |
21 | g.34886942G= | CA2387297162 | RUNX1 | c.252C= (p.Asp84=) c.171C= (p.Asp57=) c.216C= (p.Asp72=) c.213C= (p.Asp71=) c.59-6229C= (n.59-6229C=) n.431C= c.99C= (p.Asp33=) n.478C= | |
21 | g.34886942G>T | CA410203800 | RUNX1 | c.252C>A (p.Asp84Glu) c.171C>A (p.Asp57Glu) c.216C>A (p.Asp72Glu) c.213C>A (p.Asp71Glu) c.59-6229C>A (n.59-6229C>A) n.431C>A c.99C>A (p.Asp33Glu) n.478C>A | |
21 | g.34886943_34886945del | CA2737785031 | RUNX1 | c.250_252del (p.Asp84del) c.169_171del (p.Asp57del) c.214_216del (p.Asp72del) c.211_213del (p.Asp71del) c.59-6231_59-6229del (n.59-6231_59-6229del) n.429_431del c.97_99del (p.Asp33del) n.476_478del | dbSNP |
21 | g.34886943T>A | CA410203801 | RUNX1 | c.251A>T (p.Asp84Val) c.170A>T (p.Asp57Val) c.215A>T (p.Asp72Val) c.212A>T (p.Asp71Val) c.59-6230A>T (n.59-6230A>T) n.430A>T c.98A>T (p.Asp33Val) n.477A>T | dbSNP |
21 | g.34886943T>C | CA410203802 | RUNX1 | c.251A>G (p.Asp84Gly) c.170A>G (p.Asp57Gly) c.215A>G (p.Asp72Gly) c.212A>G (p.Asp71Gly) c.59-6230A>G (n.59-6230A>G) n.430A>G c.98A>G (p.Asp33Gly) n.477A>G | ClinVar dbSNP |
21 | g.34886943T>G | CA410203803 | RUNX1 | c.251A>C (p.Asp84Ala) c.170A>C (p.Asp57Ala) c.215A>C (p.Asp72Ala) c.212A>C (p.Asp71Ala) c.59-6230A>C (n.59-6230A>C) n.430A>C c.98A>C (p.Asp33Ala) n.477A>C | dbSNP |
21 | g.34886944C>A | CA410203804 | RUNX1 | c.250G>T (p.Asp84Tyr) c.169G>T (p.Asp57Tyr) c.214G>T (p.Asp72Tyr) c.211G>T (p.Asp71Tyr) c.59-6231G>T (n.59-6231G>T) n.429G>T c.97G>T (p.Asp33Tyr) n.476G>T | |
21 | g.34886944C= | CA2387297163 | RUNX1 | c.250G= (p.Asp84=) c.169G= (p.Asp57=) c.214G= (p.Asp72=) c.211G= (p.Asp71=) c.59-6231G= (n.59-6231G=) n.429G= c.97G= (p.Asp33=) n.476G= | |
21 | g.34886944C>G | CA410203805 | RUNX1 | c.250G>C (p.Asp84His) c.169G>C (p.Asp57His) c.214G>C (p.Asp72His) c.211G>C (p.Asp71His) c.59-6231G>C (n.59-6231G>C) n.429G>C c.97G>C (p.Asp33His) n.476G>C | dbSNP |
21 | g.34886944C>T | CA10014562 | RUNX1 | c.250G>A (p.Asp84Asn) c.169G>A (p.Asp57Asn) c.214G>A (p.Asp72Asn) c.211G>A (p.Asp71Asn) c.59-6231G>A (n.59-6231G>A) n.429G>A c.97G>A (p.Asp33Asn) n.476G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34886944_34886945dup | CA2695202283 | RUNX1 | c.249_250dup (p.Asp84AlafsTer?) c.168_169dup (p.Asp57AlafsTer?) c.213_214dup (p.Asp72AlafsTer?) c.210_211dup (p.Asp71AlafsTer?) c.59-6232_59-6231dup (n.59-6232_59-6231dup) n.428_429dup c.96_97dup (p.Asp33AlafsTer?) n.475_476dup | |
21 | g.34886945G>A | CA512318889 | RUNX1 | c.249C>T (p.Ala83=) c.168C>T (p.Ala56=) c.213C>T (p.Ala71=) c.210C>T (p.Ala70=) c.59-6232C>T (n.59-6232C>T) n.428C>T c.96C>T (p.Ala32=) n.475C>T | ClinVar dbSNP |
21 | g.34886945G>C | CA10014563 | RUNX1 | c.249C>G (p.Ala83=) c.168C>G (p.Ala56=) c.213C>G (p.Ala71=) c.210C>G (p.Ala70=) c.59-6232C>G (n.59-6232C>G) n.428C>G c.96C>G (p.Ala32=) n.475C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34886945G= | CA2387297164 | RUNX1 | c.249C= (p.Ala83=) c.168C= (p.Ala56=) c.213C= (p.Ala71=) c.210C= (p.Ala70=) c.59-6232C= (n.59-6232C=) n.428C= c.96C= (p.Ala32=) n.475C= | |
21 | g.34886945G>T | CA512318888 | RUNX1 | c.249C>A (p.Ala83=) c.168C>A (p.Ala56=) c.213C>A (p.Ala71=) c.210C>A (p.Ala70=) c.59-6232C>A (n.59-6232C>A) n.428C>A c.96C>A (p.Ala32=) n.475C>A | dbSNP |
21 | g.34886946G>A | CA410203806 | RUNX1 | c.248C>T (p.Ala83Val) c.167C>T (p.Ala56Val) c.212C>T (p.Ala71Val) c.209C>T (p.Ala70Val) c.59-6233C>T (n.59-6233C>T) n.427C>T c.95C>T (p.Ala32Val) n.474C>T | ClinVar dbSNP COSMIC |
21 | g.34886946G>C | CA410203808 | RUNX1 | c.248C>G (p.Ala83Gly) c.167C>G (p.Ala56Gly) c.212C>G (p.Ala71Gly) c.209C>G (p.Ala70Gly) c.59-6233C>G (n.59-6233C>G) n.427C>G c.95C>G (p.Ala32Gly) n.474C>G | |
21 | g.34886946G= | CA2387297165 | RUNX1 | c.248C= (p.Ala83=) c.167C= (p.Ala56=) c.212C= (p.Ala71=) c.209C= (p.Ala70=) c.59-6233C= (n.59-6233C=) n.427C= c.95C= (p.Ala32=) n.474C= | |
21 | g.34886946G>T | CA410203807 | RUNX1 | c.248C>A (p.Ala83Asp) c.167C>A (p.Ala56Asp) c.212C>A (p.Ala71Asp) c.209C>A (p.Ala70Asp) c.59-6233C>A (n.59-6233C>A) n.427C>A c.95C>A (p.Ala32Asp) n.474C>A | |
21 | g.34886947C>A | CA410203809 | RUNX1 | c.247G>T (p.Ala83Ser) c.166G>T (p.Ala56Ser) c.211G>T (p.Ala71Ser) c.208G>T (p.Ala70Ser) c.59-6234G>T (n.59-6234G>T) n.426G>T c.94G>T (p.Ala32Ser) n.473G>T | |
21 | g.34886947C>G | CA410203810 | RUNX1 | c.247G>C (p.Ala83Pro) c.166G>C (p.Ala56Pro) c.211G>C (p.Ala71Pro) c.208G>C (p.Ala70Pro) c.59-6234G>C (n.59-6234G>C) n.426G>C c.94G>C (p.Ala32Pro) n.473G>C | dbSNP |
21 | g.34886947C>T | CA410203811 | RUNX1 | c.247G>A (p.Ala83Thr) c.166G>A (p.Ala56Thr) c.211G>A (p.Ala71Thr) c.208G>A (p.Ala70Thr) c.59-6234G>A (n.59-6234G>A) n.426G>A c.94G>A (p.Ala32Thr) n.473G>A | dbSNP |
21 | g.34886948dup | CA2499225883 | RUNX1 | c.247dup (p.Ala83GlyfsTer?) c.166dup (p.Ala56GlyfsTer?) c.211dup (p.Ala71GlyfsTer?) c.208dup (p.Ala70GlyfsTer?) c.59-6234dup (n.59-6234dup) n.426dup c.94dup (p.Ala32GlyfsTer?) n.473dup | ClinVar dbSNP |
21 | g.34886948C>A | CA512318891 | RUNX1 | c.246G>T (p.Leu82=) c.165G>T (p.Leu55=) c.210G>T (p.Leu70=) c.207G>T (p.Leu69=) c.59-6235G>T (n.59-6235G>T) n.425G>T c.93G>T (p.Leu31=) n.472G>T | |
21 | g.34886948C= | CA2387297166 | RUNX1 | c.246G= (p.Leu82=) c.165G= (p.Leu55=) c.210G= (p.Leu70=) c.207G= (p.Leu69=) c.59-6235G= (n.59-6235G=) n.425G= c.93G= (p.Leu31=) n.472G= | |
21 | g.34886948C>G | CA512318892 | RUNX1 | c.246G>C (p.Leu82=) c.165G>C (p.Leu55=) c.210G>C (p.Leu70=) c.207G>C (p.Leu69=) c.59-6235G>C (n.59-6235G>C) n.425G>C c.93G>C (p.Leu31=) n.472G>C | |
21 | g.34886948C>T | CA512318890 | RUNX1 | c.246G>A (p.Leu82=) c.165G>A (p.Leu55=) c.210G>A (p.Leu70=) c.207G>A (p.Leu69=) c.59-6235G>A (n.59-6235G>A) n.425G>A c.93G>A (p.Leu31=) n.472G>A | dbSNP |
21 | g.34886949A>C | CA410203812 | RUNX1 | c.245T>G (p.Leu82Arg) c.164T>G (p.Leu55Arg) c.209T>G (p.Leu70Arg) c.206T>G (p.Leu69Arg) c.59-6236T>G (n.59-6236T>G) n.424T>G c.92T>G (p.Leu31Arg) n.471T>G | dbSNP |
21 | g.34886949A>G | CA410203813 | RUNX1 | c.245T>C (p.Leu82Pro) c.164T>C (p.Leu55Pro) c.209T>C (p.Leu70Pro) c.206T>C (p.Leu69Pro) c.59-6236T>C (n.59-6236T>C) n.424T>C c.92T>C (p.Leu31Pro) n.471T>C | dbSNP |
21 | g.34886949A>T | CA410203814 | RUNX1 | c.245T>A (p.Leu82Gln) c.164T>A (p.Leu55Gln) c.209T>A (p.Leu70Gln) c.206T>A (p.Leu69Gln) c.59-6236T>A (n.59-6236T>A) n.424T>A c.92T>A (p.Leu31Gln) n.471T>A | ClinVar dbSNP |
21 | g.34886949_34886950insAGCAA | CA645607450 | RUNX1 | c.245_246insTGCTT (p.Asp84TrpfsTer?) c.164_165insTGCTT (p.Asp57TrpfsTer?) c.209_210insTGCTT (p.Asp72TrpfsTer?) c.206_207insTGCTT (p.Asp71TrpfsTer?) c.59-6236_59-6235insTGCTT (n.59-6236_59-6235insTGCTT) n.424_425insTGCTT c.92_93insTGCTT (p.Asp33TrpfsTer?) n.471_472insTGCTT | COSMIC |
21 | g.34886949dup | CA2740097782 | RUNX1 | c.245dup (p.Ala83GlyfsTer?) c.164dup (p.Ala56GlyfsTer?) c.209dup (p.Ala71GlyfsTer?) c.206dup (p.Ala70GlyfsTer?) c.59-6236dup (n.59-6236dup) n.424dup c.92dup (p.Ala32GlyfsTer?) n.471dup | |
21 | g.34886950G>A | CA512318893 | RUNX1 | c.244C>T (p.Leu82=) c.163C>T (p.Leu55=) c.208C>T (p.Leu70=) c.205C>T (p.Leu69=) c.59-6237C>T (n.59-6237C>T) n.423C>T c.91C>T (p.Leu31=) n.470C>T | gnomAD v4 |
21 | g.34886950G>C | CA410203815 | RUNX1 | c.244C>G (p.Leu82Val) c.163C>G (p.Leu55Val) c.208C>G (p.Leu70Val) c.205C>G (p.Leu69Val) c.59-6237C>G (n.59-6237C>G) n.423C>G c.91C>G (p.Leu31Val) n.470C>G | |
21 | g.34886950G>T | CA410203816 | RUNX1 | c.244C>A (p.Leu82Met) c.163C>A (p.Leu55Met) c.208C>A (p.Leu70Met) c.205C>A (p.Leu69Met) c.59-6237C>A (n.59-6237C>A) n.423C>A c.91C>A (p.Leu31Met) n.470C>A | |
21 | g.34886950_34886956delinsGCACCTC | CA2387297167 | RUNX1 | c.238_244delinsGAGGTGC (p.Glu80=) c.157_163delinsGAGGTGC (p.Glu53=) c.202_208delinsGAGGTGC (p.Glu68=) c.199_205delinsGAGGTGC (p.Glu67=) c.59-6243_59-6237delinsGAGGTGC (n.59-6243_59-6237delinsGAGGTGC) n.417_423delinsGAGGTGC c.85_91delinsGAGGTGC (p.Glu29=) n.464_470delinsGAGGTGC | |
21 | g.34886951C>A | CA512318896 | RUNX1 | c.243G>T (p.Val81=) c.162G>T (p.Val54=) c.207G>T (p.Val69=) c.204G>T (p.Val68=) c.59-6238G>T (n.59-6238G>T) n.422G>T c.90G>T (p.Val30=) n.469G>T | |
21 | g.34886951C>G | CA512318895 | RUNX1 | c.243G>C (p.Val81=) c.162G>C (p.Val54=) c.207G>C (p.Val69=) c.204G>C (p.Val68=) c.59-6238G>C (n.59-6238G>C) n.422G>C c.90G>C (p.Val30=) n.469G>C | ClinVar |
21 | g.34886951C>T | CA512318894 | RUNX1 | c.243G>A (p.Val81=) c.162G>A (p.Val54=) c.207G>A (p.Val69=) c.204G>A (p.Val68=) c.59-6238G>A (n.59-6238G>A) n.422G>A c.90G>A (p.Val30=) n.469G>A | ClinVar dbSNP |
21 | g.34886952_34886953dup | CA645607451 | RUNX1 | c.242_243dup (p.Leu82CysfsTer?) c.161_162dup (p.Leu55CysfsTer?) c.206_207dup (p.Leu70CysfsTer?) c.203_204dup (p.Leu69CysfsTer?) c.59-6239_59-6238dup (n.59-6239_59-6238dup) n.421_422dup c.89_90dup (p.Leu31CysfsTer?) n.468_469dup | COSMIC |
21 | g.34886955_34886960del | CA10014564 | RUNX1 | c.238_243del (p.Glu80_Val81del) c.157_162del (p.Glu53_Val54del) c.202_207del (p.Glu68_Val69del) c.199_204del (p.Glu67_Val68del) c.59-6243_59-6238del (n.59-6243_59-6238del) n.417_422del c.85_90del (p.Glu29_Val30del) n.464_469del | ClinVar dbSNP ExAC gnomAD v2 |
21 | g.34886952A= | CA2387297168 | RUNX1 | c.242T= (p.Val81=) c.161T= (p.Val54=) c.206T= (p.Val69=) c.203T= (p.Val68=) c.59-6239T= (n.59-6239T=) n.421T= c.89T= (p.Val30=) n.468T= | |
21 | g.34886952A>C | CA410203819 | RUNX1 | c.242T>G (p.Val81Gly) c.161T>G (p.Val54Gly) c.206T>G (p.Val69Gly) c.203T>G (p.Val68Gly) c.59-6239T>G (n.59-6239T>G) n.421T>G c.89T>G (p.Val30Gly) n.468T>G | dbSNP |
21 | g.34886952A>G | CA410203818 | RUNX1 | c.242T>C (p.Val81Ala) c.161T>C (p.Val54Ala) c.206T>C (p.Val69Ala) c.203T>C (p.Val68Ala) c.59-6239T>C (n.59-6239T>C) n.421T>C c.89T>C (p.Val30Ala) n.468T>C | ClinVar dbSNP |
21 | g.34886952A>T | CA410203817 | RUNX1 | c.242T>A (p.Val81Glu) c.161T>A (p.Val54Glu) c.206T>A (p.Val69Glu) c.203T>A (p.Val68Glu) c.59-6239T>A (n.59-6239T>A) n.421T>A c.89T>A (p.Val30Glu) n.468T>A | dbSNP |
21 | g.34886952_34886954delinsACC | CA2387297169 | RUNX1 | c.240_242delinsGGT (p.Glu80=) c.159_161delinsGGT (p.Glu53=) c.204_206delinsGGT (p.Glu68=) c.201_203delinsGGT (p.Glu67=) c.59-6241_59-6239delinsGGT (n.59-6241_59-6239delinsGGT) n.419_421delinsGGT c.87_89delinsGGT (p.Glu29=) n.466_468delinsGGT | |
21 | g.34886953C>A | CA410203820 | RUNX1 | c.241G>T (p.Val81Leu) c.160G>T (p.Val54Leu) c.205G>T (p.Val69Leu) c.202G>T (p.Val68Leu) c.59-6240G>T (n.59-6240G>T) n.420G>T c.88G>T (p.Val30Leu) n.467G>T | dbSNP |
21 | g.34886953C>G | CA410203821 | RUNX1 | c.241G>C (p.Val81Leu) c.160G>C (p.Val54Leu) c.205G>C (p.Val69Leu) c.202G>C (p.Val68Leu) c.59-6240G>C (n.59-6240G>C) n.420G>C c.88G>C (p.Val30Leu) n.467G>C | |
21 | g.34886953C>T | CA410203822 | RUNX1 | c.241G>A (p.Val81Met) c.160G>A (p.Val54Met) c.205G>A (p.Val69Met) c.202G>A (p.Val68Met) c.59-6240G>A (n.59-6240G>A) n.420G>A c.88G>A (p.Val30Met) n.467G>A | dbSNP |
21 | g.34886953_34886954del | CA658824422 | RUNX1 | c.240_241del (p.Glu80AspfsTer?) c.159_160del (p.Glu53AspfsTer?) c.204_205del (p.Glu68AspfsTer?) c.201_202del (p.Glu67AspfsTer?) c.59-6241_59-6240del (n.59-6241_59-6240del) n.419_420del c.87_88del (p.Glu29AspfsTer?) n.466_467del | ClinVar dbSNP |
21 | g.34886954dup | CA645607452 | RUNX1 | c.241dup (p.Val81GlyfsTer?) c.160dup (p.Val54GlyfsTer?) c.205dup (p.Val69GlyfsTer?) c.202dup (p.Val68GlyfsTer?) c.59-6240dup (n.59-6240dup) n.420dup c.88dup (p.Val30GlyfsTer?) n.467dup | COSMIC |
21 | g.34886954del | CA2017999289 | RUNX1 | c.241del (p.Val81CysfsTer?) c.160del (p.Val54CysfsTer?) c.205del (p.Val69CysfsTer?) c.202del (p.Val68CysfsTer?) c.59-6240del (n.59-6240del) n.420del c.88del (p.Val30CysfsTer?) n.467del | |
21 | g.34886954C>A | CA410203823 | RUNX1 | c.240G>T (p.Glu80Asp) c.159G>T (p.Glu53Asp) c.204G>T (p.Glu68Asp) c.201G>T (p.Glu67Asp) c.59-6241G>T (n.59-6241G>T) n.419G>T c.87G>T (p.Glu29Asp) n.466G>T | |
21 | g.34886954C>G | CA410203824 | RUNX1 | c.240G>C (p.Glu80Asp) c.159G>C (p.Glu53Asp) c.204G>C (p.Glu68Asp) c.201G>C (p.Glu67Asp) c.59-6241G>C (n.59-6241G>C) n.419G>C c.87G>C (p.Glu29Asp) n.466G>C | |
21 | g.34886954C>T | CA512318897 | RUNX1 | c.240G>A (p.Glu80=) c.159G>A (p.Glu53=) c.204G>A (p.Glu68=) c.201G>A (p.Glu67=) c.59-6241G>A (n.59-6241G>A) n.419G>A c.87G>A (p.Glu29=) n.466G>A | |
21 | g.34886954_34886955insG | CA512318898 | RUNX1 | c.239_240insC (p.Glu80AspfsTer?) c.158_159insC (p.Glu53AspfsTer?) c.203_204insC (p.Glu68AspfsTer?) c.200_201insC (p.Glu67AspfsTer?) c.59-6242_59-6241insC (n.59-6242_59-6241insC) n.418_419insC c.86_87insC (p.Glu29AspfsTer?) n.465_466insC | |
21 | g.34886955T>A | CA410203827 | RUNX1 | c.239A>T (p.Glu80Val) c.158A>T (p.Glu53Val) c.203A>T (p.Glu68Val) c.200A>T (p.Glu67Val) c.59-6242A>T (n.59-6242A>T) n.418A>T c.86A>T (p.Glu29Val) n.465A>T | dbSNP |
21 | g.34886955T>C | CA410203826 | RUNX1 | c.239A>G (p.Glu80Gly) c.158A>G (p.Glu53Gly) c.203A>G (p.Glu68Gly) c.200A>G (p.Glu67Gly) c.59-6242A>G (n.59-6242A>G) n.418A>G c.86A>G (p.Glu29Gly) n.465A>G | dbSNP |
21 | g.34886955T>G | CA410203825 | RUNX1 | c.239A>C (p.Glu80Ala) c.158A>C (p.Glu53Ala) c.203A>C (p.Glu68Ala) c.200A>C (p.Glu67Ala) c.59-6242A>C (n.59-6242A>C) n.418A>C c.86A>C (p.Glu29Ala) n.465A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886955T= | CA2387297170 | RUNX1 | c.239A= (p.Glu80=) c.158A= (p.Glu53=) c.203A= (p.Glu68=) c.200A= (p.Glu67=) c.59-6242A= (n.59-6242A=) n.418A= c.86A= (p.Glu29=) n.465A= | |
21 | g.34886956C>A | CA410203828 | RUNX1 | c.238G>T (p.Glu80Ter) c.157G>T (p.Glu53Ter) c.202G>T (p.Glu68Ter) c.199G>T (p.Glu67Ter) c.59-6243G>T (n.59-6243G>T) n.417G>T c.85G>T (p.Glu29Ter) n.464G>T | dbSNP |
21 | g.34886956C= | CA2387297171 | RUNX1 | c.238G= (p.Glu80=) c.157G= (p.Glu53=) c.202G= (p.Glu68=) c.199G= (p.Glu67=) c.59-6243G= (n.59-6243G=) n.417G= c.85G= (p.Glu29=) n.464G= | |
21 | g.34886956C>G | CA410203829 | RUNX1 | c.238G>C (p.Glu80Gln) c.157G>C (p.Glu53Gln) c.202G>C (p.Glu68Gln) c.199G>C (p.Glu67Gln) c.59-6243G>C (n.59-6243G>C) n.417G>C c.85G>C (p.Glu29Gln) n.464G>C | dbSNP |
21 | g.34886956C>T | CA10014565 | RUNX1 | c.238G>A (p.Glu80Lys) c.157G>A (p.Glu53Lys) c.202G>A (p.Glu68Lys) c.199G>A (p.Glu67Lys) c.59-6243G>A (n.59-6243G>A) n.417G>A c.85G>A (p.Glu29Lys) n.464G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34886957dup | CA645607453 | RUNX1 | c.238dup (p.Glu80GlyfsTer?) c.157dup (p.Glu53GlyfsTer?) c.202dup (p.Glu68GlyfsTer?) c.199dup (p.Glu67GlyfsTer?) c.59-6243dup (n.59-6243dup) n.417dup c.85dup (p.Glu29GlyfsTer?) n.464dup | COSMIC |
21 | g.34886957del | CA2737785213 | RUNX1 | c.238del (p.Glu80ArgfsTer?) c.157del (p.Glu53ArgfsTer?) c.202del (p.Glu68ArgfsTer?) c.199del (p.Glu67ArgfsTer?) c.59-6243del (n.59-6243del) n.417del c.85del (p.Glu29ArgfsTer?) n.464del | dbSNP |
21 | g.34886956_34886957insG | CA512318902 | RUNX1 | c.237_238insC (p.Glu80ArgfsTer?) c.156_157insC (p.Glu53ArgfsTer?) c.201_202insC (p.Glu68ArgfsTer?) c.198_199insC (p.Glu67ArgfsTer?) c.59-6244_59-6243insC (n.59-6244_59-6243insC) n.416_417insC c.84_85insC (p.Glu29ArgfsTer?) n.463_464insC | |
21 | g.34886957C>A | CA512318900 | RUNX1 | c.237G>T (p.Val79=) c.156G>T (p.Val52=) c.201G>T (p.Val67=) c.198G>T (p.Val66=) c.59-6244G>T (n.59-6244G>T) n.416G>T c.84G>T (p.Val28=) n.463G>T | |
21 | g.34886957C= | CA2387297172 | RUNX1 | c.237G= (p.Val79=) c.156G= (p.Val52=) c.201G= (p.Val67=) c.198G= (p.Val66=) c.59-6244G= (n.59-6244G=) n.416G= c.84G= (p.Val28=) n.463G= | |
21 | g.34886957C>G | CA512318901 | RUNX1 | c.237G>C (p.Val79=) c.156G>C (p.Val52=) c.201G>C (p.Val67=) c.198G>C (p.Val66=) c.59-6244G>C (n.59-6244G>C) n.416G>C c.84G>C (p.Val28=) n.463G>C | |
21 | g.34886957C>T | CA512318899 | RUNX1 | c.237G>A (p.Val79=) c.156G>A (p.Val52=) c.201G>A (p.Val67=) c.198G>A (p.Val66=) c.59-6244G>A (n.59-6244G>A) n.416G>A c.84G>A (p.Val28=) n.463G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886958A= | CA2387297173 | RUNX1 | c.236T= (p.Val79=) c.155T= (p.Val52=) c.200T= (p.Val67=) c.197T= (p.Val66=) c.59-6245T= (n.59-6245T=) n.415T= c.83T= (p.Val28=) n.462T= | |
21 | g.34886958A>C | CA410203830 | RUNX1 | c.236T>G (p.Val79Gly) c.155T>G (p.Val52Gly) c.200T>G (p.Val67Gly) c.197T>G (p.Val66Gly) c.59-6245T>G (n.59-6245T>G) n.415T>G c.83T>G (p.Val28Gly) n.462T>G | dbSNP |
21 | g.34886958A>G | CA410203831 | RUNX1 | c.236T>C (p.Val79Ala) c.155T>C (p.Val52Ala) c.200T>C (p.Val67Ala) c.197T>C (p.Val66Ala) c.59-6245T>C (n.59-6245T>C) n.415T>C c.83T>C (p.Val28Ala) n.462T>C | ClinVar dbSNP |
21 | g.34886958A>T | CA410203832 | RUNX1 | c.236T>A (p.Val79Glu) c.155T>A (p.Val52Glu) c.200T>A (p.Val67Glu) c.197T>A (p.Val66Glu) c.59-6245T>A (n.59-6245T>A) n.415T>A c.83T>A (p.Val28Glu) n.462T>A | ClinVar dbSNP gnomAD v4 |
21 | g.34886958dup | CA891842380 | RUNX1 | c.236dup (p.Glu80GlyfsTer?) c.155dup (p.Glu53GlyfsTer?) c.200dup (p.Glu68GlyfsTer?) c.197dup (p.Glu67GlyfsTer?) c.59-6245dup (n.59-6245dup) n.415dup c.83dup (p.Glu29GlyfsTer?) n.462dup | |
21 | g.34886959C>A | CA410203833 | RUNX1 | c.235G>T (p.Val79Leu) c.154G>T (p.Val52Leu) c.199G>T (p.Val67Leu) c.196G>T (p.Val66Leu) c.59-6246G>T (n.59-6246G>T) n.414G>T c.82G>T (p.Val28Leu) n.461G>T | |
21 | g.34886959C= | CA2387297174 | RUNX1 | c.235G= (p.Val79=) c.154G= (p.Val52=) c.199G= (p.Val67=) c.196G= (p.Val66=) c.59-6246G= (n.59-6246G=) n.414G= c.82G= (p.Val28=) n.461G= | |
21 | g.34886959C>G | CA410203835 | RUNX1 | c.235G>C (p.Val79Leu) c.154G>C (p.Val52Leu) c.199G>C (p.Val67Leu) c.196G>C (p.Val66Leu) c.59-6246G>C (n.59-6246G>C) n.414G>C c.82G>C (p.Val28Leu) n.461G>C | |
21 | g.34886959C>T | CA410203834 | RUNX1 | c.235G>A (p.Val79Met) c.154G>A (p.Val52Met) c.199G>A (p.Val67Met) c.196G>A (p.Val66Met) c.59-6246G>A (n.59-6246G>A) n.414G>A c.82G>A (p.Val28Met) n.461G>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886960C>A | CA410203836 | RUNX1 | c.234G>T (p.Met78Ile) c.153G>T (p.Met51Ile) c.198G>T (p.Met66Ile) c.195G>T (p.Met65Ile) c.59-6247G>T (n.59-6247G>T) n.413G>T c.81G>T (p.Met27Ile) n.460G>T | dbSNP |
21 | g.34886960C>G | CA410203837 | RUNX1 | c.234G>C (p.Met78Ile) c.153G>C (p.Met51Ile) c.198G>C (p.Met66Ile) c.195G>C (p.Met65Ile) c.59-6247G>C (n.59-6247G>C) n.413G>C c.81G>C (p.Met27Ile) n.460G>C | gnomAD v4 |
21 | g.34886960C>T | CA410203838 | RUNX1 | c.234G>A (p.Met78Ile) c.153G>A (p.Met51Ile) c.198G>A (p.Met66Ile) c.195G>A (p.Met65Ile) c.59-6247G>A (n.59-6247G>A) n.413G>A c.81G>A (p.Met27Ile) n.460G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34886961A= | CA2387297175 | RUNX1 | c.233T= (p.Met78=) c.152T= (p.Met51=) c.197T= (p.Met66=) c.194T= (p.Met65=) c.59-6248T= (n.59-6248T=) n.412T= c.80T= (p.Met27=) n.459T= | |
21 | g.34886961A>C | CA410203839 | RUNX1 | c.233T>G (p.Met78Arg) c.152T>G (p.Met51Arg) c.197T>G (p.Met66Arg) c.194T>G (p.Met65Arg) c.59-6248T>G (n.59-6248T>G) n.412T>G c.80T>G (p.Met27Arg) n.459T>G | dbSNP |
21 | g.34886961A>G | CA410203840 | RUNX1 | c.233T>C (p.Met78Thr) c.152T>C (p.Met51Thr) c.197T>C (p.Met66Thr) c.194T>C (p.Met65Thr) c.59-6248T>C (n.59-6248T>C) n.412T>C c.80T>C (p.Met27Thr) n.459T>C | ClinVar dbSNP |
21 | g.34886961A>T | CA410203841 | RUNX1 | c.233T>A (p.Met78Lys) c.152T>A (p.Met51Lys) c.197T>A (p.Met66Lys) c.194T>A (p.Met65Lys) c.59-6248T>A (n.59-6248T>A) n.412T>A c.80T>A (p.Met27Lys) n.459T>A | dbSNP |
21 | g.34886961dup | CA645607454 | RUNX1 | c.233dup (p.Met78IlefsTer?) c.152dup (p.Met51IlefsTer?) c.197dup (p.Met66IlefsTer?) c.194dup (p.Met65IlefsTer?) c.59-6248dup (n.59-6248dup) n.412dup c.80dup (p.Met27IlefsTer?) n.459dup | COSMIC COSMIC |
21 | g.34886962T>A | CA10583885 | RUNX1 | c.232A>T (p.Met78Leu) c.151A>T (p.Met51Leu) c.196A>T (p.Met66Leu) c.193A>T (p.Met65Leu) c.59-6249A>T (n.59-6249A>T) n.411A>T c.79A>T (p.Met27Leu) n.458A>T | ClinVar dbSNP |
21 | g.34886962T>C | CA410203842 | RUNX1 | c.232A>G (p.Met78Val) c.151A>G (p.Met51Val) c.196A>G (p.Met66Val) c.193A>G (p.Met65Val) c.59-6249A>G (n.59-6249A>G) n.411A>G c.79A>G (p.Met27Val) n.458A>G | ClinVar dbSNP gnomAD v4 |
21 | g.34886962T>G | CA410203843 | RUNX1 | c.232A>C (p.Met78Leu) c.151A>C (p.Met51Leu) c.196A>C (p.Met66Leu) c.193A>C (p.Met65Leu) c.59-6249A>C (n.59-6249A>C) n.411A>C c.79A>C (p.Met27Leu) n.458A>C | ClinVar dbSNP gnomAD v4 |
21 | g.34886962T= | CA2387297176 | RUNX1 | c.232A= (p.Met78=) c.151A= (p.Met51=) c.196A= (p.Met66=) c.193A= (p.Met65=) c.59-6249A= (n.59-6249A=) n.411A= c.79A= (p.Met27=) n.458A= | |
21 | g.34886963G>A | CA512318903 | RUNX1 | c.231C>T (p.Ser77=) c.150C>T (p.Ser50=) c.195C>T (p.Ser65=) c.192C>T (p.Ser64=) c.59-6250C>T (n.59-6250C>T) n.410C>T c.78C>T (p.Ser26=) n.457C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886963G>C | CA410203844 | RUNX1 | c.231C>G (p.Ser77Arg) c.150C>G (p.Ser50Arg) c.195C>G (p.Ser65Arg) c.192C>G (p.Ser64Arg) c.59-6250C>G (n.59-6250C>G) n.410C>G c.78C>G (p.Ser26Arg) n.457C>G | dbSNP |
21 | g.34886963G= | CA2387297177 | RUNX1 | c.231C= (p.Ser77=) c.150C= (p.Ser50=) c.195C= (p.Ser65=) c.192C= (p.Ser64=) c.59-6250C= (n.59-6250C=) n.410C= c.78C= (p.Ser26=) n.457C= | |
21 | g.34886963G>T | CA410203845 | RUNX1 | c.231C>A (p.Ser77Arg) c.150C>A (p.Ser50Arg) c.195C>A (p.Ser65Arg) c.192C>A (p.Ser64Arg) c.59-6250C>A (n.59-6250C>A) n.410C>A c.78C>A (p.Ser26Arg) n.457C>A | |
21 | g.34886964_34886968del | CA2654380326 | RUNX1 | c.227_231del (p.Arg76HisfsTer?) c.146_150del (p.Arg49HisfsTer?) c.191_195del (p.Arg64HisfsTer?) c.188_192del (p.Arg63HisfsTer?) c.59-6254_59-6250del (n.59-6254_59-6250del) n.406_410del c.74_78del (p.Arg25HisfsTer?) n.453_457del | gnomAD v4 |
21 | g.34886964C>A | CA410203847 | RUNX1 | c.230G>T (p.Ser77Ile) c.149G>T (p.Ser50Ile) c.194G>T (p.Ser65Ile) c.191G>T (p.Ser64Ile) c.59-6251G>T (n.59-6251G>T) n.409G>T c.77G>T (p.Ser26Ile) n.456G>T | dbSNP |
21 | g.34886964C= | CA2387297178 | RUNX1 | c.230G= (p.Ser77=) c.149G= (p.Ser50=) c.194G= (p.Ser65=) c.191G= (p.Ser64=) c.59-6251G= (n.59-6251G=) n.409G= c.77G= (p.Ser26=) n.456G= | |
21 | g.34886964C>G | CA410203848 | RUNX1 | c.230G>C (p.Ser77Thr) c.149G>C (p.Ser50Thr) c.194G>C (p.Ser65Thr) c.191G>C (p.Ser64Thr) c.59-6251G>C (n.59-6251G>C) n.409G>C c.77G>C (p.Ser26Thr) n.456G>C | dbSNP |
21 | g.34886964C>T | CA410203846 | RUNX1 | c.230G>A (p.Ser77Asn) c.149G>A (p.Ser50Asn) c.194G>A (p.Ser65Asn) c.191G>A (p.Ser64Asn) c.59-6251G>A (n.59-6251G>A) n.409G>A c.77G>A (p.Ser26Asn) n.456G>A | dbSNP gnomAD v2 |
21 | g.34886965T>A | CA410203849 | RUNX1 | c.229A>T (p.Ser77Cys) c.148A>T (p.Ser50Cys) c.193A>T (p.Ser65Cys) c.190A>T (p.Ser64Cys) c.59-6252A>T (n.59-6252A>T) n.408A>T c.76A>T (p.Ser26Cys) n.455A>T | dbSNP |
21 | g.34886965T>C | CA410203851 | RUNX1 | c.229A>G (p.Ser77Gly) c.148A>G (p.Ser50Gly) c.193A>G (p.Ser65Gly) c.190A>G (p.Ser64Gly) c.59-6252A>G (n.59-6252A>G) n.408A>G c.76A>G (p.Ser26Gly) n.455A>G | COSMIC COSMIC |
21 | g.34886965T>G | CA410203850 | RUNX1 | c.229A>C (p.Ser77Arg) c.148A>C (p.Ser50Arg) c.193A>C (p.Ser65Arg) c.190A>C (p.Ser64Arg) c.59-6252A>C (n.59-6252A>C) n.408A>C c.76A>C (p.Ser26Arg) n.455A>C | |
21 | g.34886966G>A | CA512318905 | RUNX1 | c.228C>T (p.Arg76=) c.147C>T (p.Arg49=) c.192C>T (p.Arg64=) c.189C>T (p.Arg63=) c.59-6253C>T (n.59-6253C>T) n.407C>T c.75C>T (p.Arg25=) n.454C>T | dbSNP |
21 | g.34886966G>C | CA512318906 | RUNX1 | c.228C>G (p.Arg76=) c.147C>G (p.Arg49=) c.192C>G (p.Arg64=) c.189C>G (p.Arg63=) c.59-6253C>G (n.59-6253C>G) n.407C>G c.75C>G (p.Arg25=) n.454C>G | dbSNP |
21 | g.34886966G>T | CA512318904 | RUNX1 | c.228C>A (p.Arg76=) c.147C>A (p.Arg49=) c.192C>A (p.Arg64=) c.189C>A (p.Arg63=) c.59-6253C>A (n.59-6253C>A) n.407C>A c.75C>A (p.Arg25=) n.454C>A | |
21 | g.34886966dup | CA2697547499 | RUNX1 | c.228dup (p.Ser77GlnfsTer?) c.147dup (p.Ser50GlnfsTer?) c.192dup (p.Ser65GlnfsTer?) c.189dup (p.Ser64GlnfsTer?) c.59-6253dup (n.59-6253dup) n.407dup c.75dup (p.Ser26GlnfsTer?) n.454dup | ClinVar |
21 | g.34886967C>A | CA410203852 | RUNX1 | c.227G>T (p.Arg76Leu) c.146G>T (p.Arg49Leu) c.191G>T (p.Arg64Leu) c.188G>T (p.Arg63Leu) c.59-6254G>T (n.59-6254G>T) n.406G>T c.74G>T (p.Arg25Leu) n.453G>T | dbSNP |
21 | g.34886967C= | CA2387297179 | RUNX1 | c.227G= (p.Arg76=) c.146G= (p.Arg49=) c.191G= (p.Arg64=) c.188G= (p.Arg63=) c.59-6254G= (n.59-6254G=) n.406G= c.74G= (p.Arg25=) n.453G= | |
21 | g.34886967C>G | CA410203853 | RUNX1 | c.227G>C (p.Arg76Pro) c.146G>C (p.Arg49Pro) c.191G>C (p.Arg64Pro) c.188G>C (p.Arg63Pro) c.59-6254G>C (n.59-6254G>C) n.406G>C c.74G>C (p.Arg25Pro) n.453G>C | ClinVar dbSNP gnomAD v4 |
21 | g.34886967C>T | CA10014566 | RUNX1 | c.227G>A (p.Arg76His) c.146G>A (p.Arg49His) c.191G>A (p.Arg64His) c.188G>A (p.Arg63His) c.59-6254G>A (n.59-6254G>A) n.406G>A c.74G>A (p.Arg25His) n.453G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
21 | g.34886968G>A | CA410203854 | RUNX1 | c.226C>T (p.Arg76Cys) c.145C>T (p.Arg49Cys) c.190C>T (p.Arg64Cys) c.187C>T (p.Arg63Cys) c.59-6255C>T (n.59-6255C>T) n.405C>T c.73C>T (p.Arg25Cys) n.452C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886968G>C | CA410203855 | RUNX1 | c.226C>G (p.Arg76Gly) c.145C>G (p.Arg49Gly) c.190C>G (p.Arg64Gly) c.187C>G (p.Arg63Gly) c.59-6255C>G (n.59-6255C>G) n.405C>G c.73C>G (p.Arg25Gly) n.452C>G | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886968G= | CA2387297180 | RUNX1 | c.226C= (p.Arg76=) c.145C= (p.Arg49=) c.190C= (p.Arg64=) c.187C= (p.Arg63=) c.59-6255C= (n.59-6255C=) n.405C= c.73C= (p.Arg25=) n.452C= | |
21 | g.34886968G>T | CA410203856 | RUNX1 | c.226C>A (p.Arg76Ser) c.145C>A (p.Arg49Ser) c.190C>A (p.Arg64Ser) c.187C>A (p.Arg63Ser) c.59-6255C>A (n.59-6255C>A) n.405C>A c.73C>A (p.Arg25Ser) n.452C>A | dbSNP |
21 | g.34886969G>A | CA10014567 | RUNX1 | c.225C>T (p.Asp75=) c.144C>T (p.Asp48=) c.189C>T (p.Asp63=) c.186C>T (p.Asp62=) c.59-6256C>T (n.59-6256C>T) n.404C>T c.72C>T (p.Asp24=) n.451C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34886969G>C | CA410203857 | RUNX1 | c.225C>G (p.Asp75Glu) c.144C>G (p.Asp48Glu) c.189C>G (p.Asp63Glu) c.186C>G (p.Asp62Glu) c.59-6256C>G (n.59-6256C>G) n.404C>G c.72C>G (p.Asp24Glu) n.451C>G | dbSNP |
21 | g.34886969G= | CA2387297181 | RUNX1 | c.225C= (p.Asp75=) c.144C= (p.Asp48=) c.189C= (p.Asp63=) c.186C= (p.Asp62=) c.59-6256C= (n.59-6256C=) n.404C= c.72C= (p.Asp24=) n.451C= | |
21 | g.34886969G>T | CA410203858 | RUNX1 | c.225C>A (p.Asp75Glu) c.144C>A (p.Asp48Glu) c.189C>A (p.Asp63Glu) c.186C>A (p.Asp62Glu) c.59-6256C>A (n.59-6256C>A) n.404C>A c.72C>A (p.Asp24Glu) n.451C>A | dbSNP |
21 | g.34886970T>A | CA410203859 | RUNX1 | c.224A>T (p.Asp75Val) c.143A>T (p.Asp48Val) c.188A>T (p.Asp63Val) c.185A>T (p.Asp62Val) c.59-6257A>T (n.59-6257A>T) n.403A>T c.71A>T (p.Asp24Val) n.450A>T | dbSNP |
21 | g.34886970T>C | CA410203860 | RUNX1 | c.224A>G (p.Asp75Gly) c.143A>G (p.Asp48Gly) c.188A>G (p.Asp63Gly) c.185A>G (p.Asp62Gly) c.59-6257A>G (n.59-6257A>G) n.403A>G c.71A>G (p.Asp24Gly) n.450A>G | |
21 | g.34886970T>G | CA410203861 | RUNX1 | c.224A>C (p.Asp75Ala) c.143A>C (p.Asp48Ala) c.188A>C (p.Asp63Ala) c.185A>C (p.Asp62Ala) c.59-6257A>C (n.59-6257A>C) n.403A>C c.71A>C (p.Asp24Ala) n.450A>C | dbSNP |
21 | g.34886970_34887023delinsTCGCCGCTCCTCAGCTTGCCGGCCAGGGCAGCGCCGGCGTCCGGGGCGCCCAGC | CA2387297182 | RUNX1 | c.171_224delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro57=) c.90_143delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro30=) c.135_188delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro45=) c.132_185delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro44=) c.59-6310_59-6257delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (n.59-6310_59-6257delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA) n.350_403delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA c.18_71delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA (p.Pro6=) n.397_450delinsGCTGGGCGCCCCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGA | |
21 | g.34886971C>A | CA410203862 | RUNX1 | c.223G>T (p.Asp75Tyr) c.142G>T (p.Asp48Tyr) c.187G>T (p.Asp63Tyr) c.184G>T (p.Asp62Tyr) c.59-6258G>T (n.59-6258G>T) n.402G>T c.70G>T (p.Asp24Tyr) n.449G>T | ClinVar dbSNP COSMIC |
21 | g.34886971C= | CA2387297183 | RUNX1 | c.223G= (p.Asp75=) c.142G= (p.Asp48=) c.187G= (p.Asp63=) c.184G= (p.Asp62=) c.59-6258G= (n.59-6258G=) n.402G= c.70G= (p.Asp24=) n.449G= | |
21 | g.34886971C>G | CA410203863 | RUNX1 | c.223G>C (p.Asp75His) c.142G>C (p.Asp48His) c.187G>C (p.Asp63His) c.184G>C (p.Asp62His) c.59-6258G>C (n.59-6258G>C) n.402G>C c.70G>C (p.Asp24His) n.449G>C | |
21 | g.34886971C>T | CA410203864 | RUNX1 | c.223G>A (p.Asp75Asn) c.142G>A (p.Asp48Asn) c.187G>A (p.Asp63Asn) c.184G>A (p.Asp62Asn) c.59-6258G>A (n.59-6258G>A) n.402G>A c.70G>A (p.Asp24Asn) n.449G>A | dbSNP |
21 | g.34886971_34886999del | CA645607457 | RUNX1 | c.195_223del (p.Ala66ProfsTer?) c.114_142del (p.Ala39ProfsTer?) c.159_187del (p.Ala54ProfsTer?) c.156_184del (p.Ala53ProfsTer?) c.59-6286_59-6258del (n.59-6286_59-6258del) n.374_402del c.42_70del (p.Ala15ProfsTer?) n.421_449del | COSMIC |
21 | g.34886971_34887023del | CA658824423 | RUNX1 | c.171_223del (p.Leu58ProfsTer?) c.90_142del (p.Leu31ProfsTer?) c.135_187del (p.Leu46ProfsTer?) c.132_184del (p.Leu45ProfsTer?) c.59-6310_59-6258del (n.59-6310_59-6258del) n.350_402del c.18_70del (p.Leu7ProfsTer?) n.397_449del | ClinVar dbSNP |
21 | g.34886972G>A | CA512318907 | RUNX1 | c.222C>T (p.Gly74=) c.141C>T (p.Gly47=) c.186C>T (p.Gly62=) c.183C>T (p.Gly61=) c.59-6259C>T (n.59-6259C>T) n.401C>T c.69C>T (p.Gly23=) n.448C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886972G>C | CA512318909 | RUNX1 | c.222C>G (p.Gly74=) c.141C>G (p.Gly47=) c.186C>G (p.Gly62=) c.183C>G (p.Gly61=) c.59-6259C>G (n.59-6259C>G) n.401C>G c.69C>G (p.Gly23=) n.448C>G | dbSNP |
21 | g.34886972G= | CA2387297184 | RUNX1 | c.222C= (p.Gly74=) c.141C= (p.Gly47=) c.186C= (p.Gly62=) c.183C= (p.Gly61=) c.59-6259C= (n.59-6259C=) n.401C= c.69C= (p.Gly23=) n.448C= | |
21 | g.34886972G>T | CA512318908 | RUNX1 | c.222C>A (p.Gly74=) c.141C>A (p.Gly47=) c.186C>A (p.Gly62=) c.183C>A (p.Gly61=) c.59-6259C>A (n.59-6259C>A) n.401C>A c.69C>A (p.Gly23=) n.448C>A | |
21 | g.34886973C>A | CA410203867 | RUNX1 | c.221G>T (p.Gly74Val) c.140G>T (p.Gly47Val) c.185G>T (p.Gly62Val) c.182G>T (p.Gly61Val) c.59-6260G>T (n.59-6260G>T) n.400G>T c.68G>T (p.Gly23Val) n.447G>T | ClinVar |
21 | g.34886973C>G | CA410203866 | RUNX1 | c.221G>C (p.Gly74Ala) c.140G>C (p.Gly47Ala) c.185G>C (p.Gly62Ala) c.182G>C (p.Gly61Ala) c.59-6260G>C (n.59-6260G>C) n.400G>C c.68G>C (p.Gly23Ala) n.447G>C | dbSNP |
21 | g.34886973C>T | CA410203865 | RUNX1 | c.221G>A (p.Gly74Asp) c.140G>A (p.Gly47Asp) c.185G>A (p.Gly62Asp) c.182G>A (p.Gly61Asp) c.59-6260G>A (n.59-6260G>A) n.400G>A c.68G>A (p.Gly23Asp) n.447G>A | dbSNP |
21 | g.34886974C>A | CA410203868 | RUNX1 | c.220G>T (p.Gly74Cys) c.139G>T (p.Gly47Cys) c.184G>T (p.Gly62Cys) c.181G>T (p.Gly61Cys) c.59-6261G>T (n.59-6261G>T) n.399G>T c.67G>T (p.Gly23Cys) n.446G>T | |
21 | g.34886974C= | CA2387297185 | RUNX1 | c.220G= (p.Gly74=) c.139G= (p.Gly47=) c.184G= (p.Gly62=) c.181G= (p.Gly61=) c.59-6261G= (n.59-6261G=) n.399G= c.67G= (p.Gly23=) n.446G= | |
21 | g.34886974C>G | CA410203869 | RUNX1 | c.220G>C (p.Gly74Arg) c.139G>C (p.Gly47Arg) c.184G>C (p.Gly62Arg) c.181G>C (p.Gly61Arg) c.59-6261G>C (n.59-6261G>C) n.399G>C c.67G>C (p.Gly23Arg) n.446G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886974C>T | CA410203870 | RUNX1 | c.220G>A (p.Gly74Ser) c.139G>A (p.Gly47Ser) c.184G>A (p.Gly62Ser) c.181G>A (p.Gly61Ser) c.59-6261G>A (n.59-6261G>A) n.399G>A c.67G>A (p.Gly23Ser) n.446G>A | |
21 | g.34886975G>A | CA512318910 | RUNX1 | c.219C>T (p.Ser73=) c.138C>T (p.Ser46=) c.183C>T (p.Ser61=) c.180C>T (p.Ser60=) c.59-6262C>T (n.59-6262C>T) n.398C>T c.66C>T (p.Ser22=) n.445C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886975G>C | CA410203871 | RUNX1 | c.219C>G (p.Ser73Arg) c.138C>G (p.Ser46Arg) c.183C>G (p.Ser61Arg) c.180C>G (p.Ser60Arg) c.59-6262C>G (n.59-6262C>G) n.398C>G c.66C>G (p.Ser22Arg) n.445C>G | ClinVar dbSNP gnomAD v4 |
21 | g.34886975G= | CA2387297186 | RUNX1 | c.219C= (p.Ser73=) c.138C= (p.Ser46=) c.183C= (p.Ser61=) c.180C= (p.Ser60=) c.59-6262C= (n.59-6262C=) n.398C= c.66C= (p.Ser22=) n.445C= | |
21 | g.34886975G>T | CA410203872 | RUNX1 | c.219C>A (p.Ser73Arg) c.138C>A (p.Ser46Arg) c.183C>A (p.Ser61Arg) c.180C>A (p.Ser60Arg) c.59-6262C>A (n.59-6262C>A) n.398C>A c.66C>A (p.Ser22Arg) n.445C>A | gnomAD v4 |
21 | g.34886976C>A | CA410203873 | RUNX1 | c.218G>T (p.Ser73Ile) c.137G>T (p.Ser46Ile) c.182G>T (p.Ser61Ile) c.179G>T (p.Ser60Ile) c.59-6263G>T (n.59-6263G>T) n.397G>T c.65G>T (p.Ser22Ile) n.444G>T | dbSNP |
21 | g.34886976C>G | CA410203874 | RUNX1 | c.218G>C (p.Ser73Thr) c.137G>C (p.Ser46Thr) c.182G>C (p.Ser61Thr) c.179G>C (p.Ser60Thr) c.59-6263G>C (n.59-6263G>C) n.397G>C c.65G>C (p.Ser22Thr) n.444G>C | |
21 | g.34886976C>T | CA410203875 | RUNX1 | c.218G>A (p.Ser73Asn) c.137G>A (p.Ser46Asn) c.182G>A (p.Ser61Asn) c.179G>A (p.Ser60Asn) c.59-6263G>A (n.59-6263G>A) n.397G>A c.65G>A (p.Ser22Asn) n.444G>A | |
21 | g.34886977T>A | CA410203876 | RUNX1 | c.217A>T (p.Ser73Cys) c.136A>T (p.Ser46Cys) c.181A>T (p.Ser61Cys) c.178A>T (p.Ser60Cys) c.59-6264A>T (n.59-6264A>T) n.396A>T c.64A>T (p.Ser22Cys) n.443A>T | dbSNP |
21 | g.34886977T>C | CA410203877 | RUNX1 | c.217A>G (p.Ser73Gly) c.136A>G (p.Ser46Gly) c.181A>G (p.Ser61Gly) c.178A>G (p.Ser60Gly) c.59-6264A>G (n.59-6264A>G) n.396A>G c.64A>G (p.Ser22Gly) n.443A>G | ClinVar dbSNP gnomAD v4 |
21 | g.34886977T>G | CA410203878 | RUNX1 | c.217A>C (p.Ser73Arg) c.136A>C (p.Ser46Arg) c.181A>C (p.Ser61Arg) c.178A>C (p.Ser60Arg) c.59-6264A>C (n.59-6264A>C) n.396A>C c.64A>C (p.Ser22Arg) n.443A>C | |
21 | g.34886977T= | CA2387297187 | RUNX1 | c.217A= (p.Ser73=) c.136A= (p.Ser46=) c.181A= (p.Ser61=) c.178A= (p.Ser60=) c.59-6264A= (n.59-6264A=) n.396A= c.64A= (p.Ser22=) n.443A= | |
21 | g.34886978C>A | CA410203879 | RUNX1 | c.216G>T (p.Arg72Ser) c.135G>T (p.Arg45Ser) c.180G>T (p.Arg60Ser) c.177G>T (p.Arg59Ser) c.59-6265G>T (n.59-6265G>T) n.395G>T c.63G>T (p.Arg21Ser) n.442G>T | |
21 | g.34886978C>G | CA410203880 | RUNX1 | c.216G>C (p.Arg72Ser) c.135G>C (p.Arg45Ser) c.180G>C (p.Arg60Ser) c.177G>C (p.Arg59Ser) c.59-6265G>C (n.59-6265G>C) n.395G>C c.63G>C (p.Arg21Ser) n.442G>C | |
21 | g.34886978C>T | CA512318911 | RUNX1 | c.216G>A (p.Arg72=) c.135G>A (p.Arg45=) c.180G>A (p.Arg60=) c.177G>A (p.Arg59=) c.59-6265G>A (n.59-6265G>A) n.395G>A c.63G>A (p.Arg21=) n.442G>A | ClinVar gnomAD v4 |
21 | g.34886978_34886979dup | CA658656806 | RUNX1 | c.215_216dup (p.Ser73GlyfsTer?) c.134_135dup (p.Ser46GlyfsTer?) c.179_180dup (p.Ser61GlyfsTer?) c.176_177dup (p.Ser60GlyfsTer?) c.59-6266_59-6265dup (n.59-6266_59-6265dup) n.394_395dup c.62_63dup (p.Ser22GlyfsTer?) n.441_442dup | ClinVar dbSNP |
21 | g.34886979C>A | CA410203882 | RUNX1 | c.215G>T (p.Arg72Met) c.134G>T (p.Arg45Met) c.179G>T (p.Arg60Met) c.176G>T (p.Arg59Met) c.59-6266G>T (n.59-6266G>T) n.394G>T c.62G>T (p.Arg21Met) n.441G>T | dbSNP |
21 | g.34886979C>G | CA410203883 | RUNX1 | c.215G>C (p.Arg72Thr) c.134G>C (p.Arg45Thr) c.179G>C (p.Arg60Thr) c.176G>C (p.Arg59Thr) c.59-6266G>C (n.59-6266G>C) n.394G>C c.62G>C (p.Arg21Thr) n.441G>C | |
21 | g.34886979C>T | CA410203881 | RUNX1 | c.215G>A (p.Arg72Lys) c.134G>A (p.Arg45Lys) c.179G>A (p.Arg60Lys) c.176G>A (p.Arg59Lys) c.59-6266G>A (n.59-6266G>A) n.394G>A c.62G>A (p.Arg21Lys) n.441G>A | dbSNP |
21 | g.34886980T>A | CA410203884 | RUNX1 | c.214A>T (p.Arg72Trp) c.133A>T (p.Arg45Trp) c.178A>T (p.Arg60Trp) c.175A>T (p.Arg59Trp) c.59-6267A>T (n.59-6267A>T) n.393A>T c.61A>T (p.Arg21Trp) n.440A>T | dbSNP |
21 | g.34886980T>C | CA410203885 | RUNX1 | c.214A>G (p.Arg72Gly) c.133A>G (p.Arg45Gly) c.178A>G (p.Arg60Gly) c.175A>G (p.Arg59Gly) c.59-6267A>G (n.59-6267A>G) n.393A>G c.61A>G (p.Arg21Gly) n.440A>G | dbSNP |
21 | g.34886980T>G | CA512318912 | RUNX1 | c.214A>C (p.Arg72=) c.133A>C (p.Arg45=) c.178A>C (p.Arg60=) c.175A>C (p.Arg59=) c.59-6267A>C (n.59-6267A>C) n.393A>C c.61A>C (p.Arg21=) n.440A>C | |
21 | g.34886981C>A | CA512318913 | RUNX1 | c.213G>T (p.Leu71=) c.132G>T (p.Leu44=) c.177G>T (p.Leu59=) c.174G>T (p.Leu58=) c.59-6268G>T (n.59-6268G>T) n.392G>T c.60G>T (p.Leu20=) n.439G>T | dbSNP |
21 | g.34886981C>G | CA512318915 | RUNX1 | c.213G>C (p.Leu71=) c.132G>C (p.Leu44=) c.177G>C (p.Leu59=) c.174G>C (p.Leu58=) c.59-6268G>C (n.59-6268G>C) n.392G>C c.60G>C (p.Leu20=) n.439G>C | dbSNP |
21 | g.34886981C>T | CA512318914 | RUNX1 | c.213G>A (p.Leu71=) c.132G>A (p.Leu44=) c.177G>A (p.Leu59=) c.174G>A (p.Leu58=) c.59-6268G>A (n.59-6268G>A) n.392G>A c.60G>A (p.Leu20=) n.439G>A | ClinVar dbSNP |
21 | g.34886982A>C | CA410203886 | RUNX1 | c.212T>G (p.Leu71Arg) c.131T>G (p.Leu44Arg) c.176T>G (p.Leu59Arg) c.173T>G (p.Leu58Arg) c.59-6269T>G (n.59-6269T>G) n.391T>G c.59T>G (p.Leu20Arg) n.438T>G | |
21 | g.34886982A>G | CA410203887 | RUNX1 | c.212T>C (p.Leu71Pro) c.131T>C (p.Leu44Pro) c.176T>C (p.Leu59Pro) c.173T>C (p.Leu58Pro) c.59-6269T>C (n.59-6269T>C) n.391T>C c.59T>C (p.Leu20Pro) n.438T>C | dbSNP |
21 | g.34886982A>T | CA410203888 | RUNX1 | c.212T>A (p.Leu71Gln) c.131T>A (p.Leu44Gln) c.176T>A (p.Leu59Gln) c.173T>A (p.Leu58Gln) c.59-6269T>A (n.59-6269T>A) n.391T>A c.59T>A (p.Leu20Gln) n.438T>A | |
21 | g.34886983G>A | CA512318916 | RUNX1 | c.211C>T (p.Leu71=) c.130C>T (p.Leu44=) c.175C>T (p.Leu59=) c.172C>T (p.Leu58=) c.59-6270C>T (n.59-6270C>T) n.390C>T c.58C>T (p.Leu20=) n.437C>T | dbSNP gnomAD v4 |
21 | g.34886983G>C | CA410203889 | RUNX1 | c.211C>G (p.Leu71Val) c.130C>G (p.Leu44Val) c.175C>G (p.Leu59Val) c.172C>G (p.Leu58Val) c.59-6270C>G (n.59-6270C>G) n.390C>G c.58C>G (p.Leu20Val) n.437C>G | ClinVar dbSNP |
21 | g.34886983G>T | CA410203890 | RUNX1 | c.211C>A (p.Leu71Met) c.130C>A (p.Leu44Met) c.175C>A (p.Leu59Met) c.172C>A (p.Leu58Met) c.59-6270C>A (n.59-6270C>A) n.390C>A c.58C>A (p.Leu20Met) n.437C>A | COSMIC COSMIC |
21 | g.34886984C>A | CA410203891 | RUNX1 | c.210G>T (p.Lys70Asn) c.129G>T (p.Lys43Asn) c.174G>T (p.Lys58Asn) c.171G>T (p.Lys57Asn) c.59-6271G>T (n.59-6271G>T) n.389G>T c.57G>T (p.Lys19Asn) n.436G>T | dbSNP |
21 | g.34886984C>G | CA410203892 | RUNX1 | c.210G>C (p.Lys70Asn) c.129G>C (p.Lys43Asn) c.174G>C (p.Lys58Asn) c.171G>C (p.Lys57Asn) c.59-6271G>C (n.59-6271G>C) n.389G>C c.57G>C (p.Lys19Asn) n.436G>C | dbSNP |
21 | g.34886984C>T | CA512318917 | RUNX1 | c.210G>A (p.Lys70=) c.129G>A (p.Lys43=) c.174G>A (p.Lys58=) c.171G>A (p.Lys57=) c.59-6271G>A (n.59-6271G>A) n.389G>A c.57G>A (p.Lys19=) n.436G>A | ClinVar dbSNP |
21 | g.34886985T>A | CA410203893 | RUNX1 | c.209A>T (p.Lys70Met) c.128A>T (p.Lys43Met) c.173A>T (p.Lys58Met) c.170A>T (p.Lys57Met) c.59-6272A>T (n.59-6272A>T) n.388A>T c.56A>T (p.Lys19Met) n.435A>T | dbSNP gnomAD v4 |
21 | g.34886985T>C | CA410203895 | RUNX1 | c.209A>G (p.Lys70Arg) c.128A>G (p.Lys43Arg) c.173A>G (p.Lys58Arg) c.170A>G (p.Lys57Arg) c.59-6272A>G (n.59-6272A>G) n.388A>G c.56A>G (p.Lys19Arg) n.435A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886985T>G | CA410203897 | RUNX1 | c.209A>C (p.Lys70Thr) c.128A>C (p.Lys43Thr) c.173A>C (p.Lys58Thr) c.170A>C (p.Lys57Thr) c.59-6272A>C (n.59-6272A>C) n.388A>C c.56A>C (p.Lys19Thr) n.435A>C | ClinVar dbSNP |
21 | g.34886985T= | CA2387297188 | RUNX1 | c.209A= (p.Lys70=) c.128A= (p.Lys43=) c.173A= (p.Lys58=) c.170A= (p.Lys57=) c.59-6272A= (n.59-6272A=) n.388A= c.56A= (p.Lys19=) n.435A= | |
21 | g.34886986T>A | CA410203903 | RUNX1 | c.208A>T (p.Lys70Ter) c.127A>T (p.Lys43Ter) c.172A>T (p.Lys58Ter) c.169A>T (p.Lys57Ter) c.59-6273A>T (n.59-6273A>T) n.387A>T c.55A>T (p.Lys19Ter) n.434A>T | dbSNP |
21 | g.34886986T>C | CA410203899 | RUNX1 | c.208A>G (p.Lys70Glu) c.127A>G (p.Lys43Glu) c.172A>G (p.Lys58Glu) c.169A>G (p.Lys57Glu) c.59-6273A>G (n.59-6273A>G) n.387A>G c.55A>G (p.Lys19Glu) n.434A>G | |
21 | g.34886986T>G | CA410203901 | RUNX1 | c.208A>C (p.Lys70Gln) c.127A>C (p.Lys43Gln) c.172A>C (p.Lys58Gln) c.169A>C (p.Lys57Gln) c.59-6273A>C (n.59-6273A>C) n.387A>C c.55A>C (p.Lys19Gln) n.434A>C | gnomAD v4 |
21 | g.34886987G>A | CA512318918 | RUNX1 | c.207C>T (p.Gly69=) c.126C>T (p.Gly42=) c.171C>T (p.Gly57=) c.168C>T (p.Gly56=) c.59-6274C>T (n.59-6274C>T) n.386C>T c.54C>T (p.Gly18=) n.433C>T | dbSNP |
21 | g.34886987G>C | CA512318920 | RUNX1 | c.207C>G (p.Gly69=) c.126C>G (p.Gly42=) c.171C>G (p.Gly57=) c.168C>G (p.Gly56=) c.59-6274C>G (n.59-6274C>G) n.386C>G c.54C>G (p.Gly18=) n.433C>G | |
21 | g.34886987G>T | CA512318919 | RUNX1 | c.207C>A (p.Gly69=) c.126C>A (p.Gly42=) c.171C>A (p.Gly57=) c.168C>A (p.Gly56=) c.59-6274C>A (n.59-6274C>A) n.386C>A c.54C>A (p.Gly18=) n.433C>A | |
21 | g.34886988C>A | CA10014568 | RUNX1 | c.206G>T (p.Gly69Val) c.125G>T (p.Gly42Val) c.170G>T (p.Gly57Val) c.167G>T (p.Gly56Val) c.59-6275G>T (n.59-6275G>T) n.385G>T c.53G>T (p.Gly18Val) n.432G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.34886988C= | CA2387297189 | RUNX1 | c.206G= (p.Gly69=) c.125G= (p.Gly42=) c.170G= (p.Gly57=) c.167G= (p.Gly56=) c.59-6275G= (n.59-6275G=) n.385G= c.53G= (p.Gly18=) n.432G= | |
21 | g.34886988C>G | CA410203905 | RUNX1 | c.206G>C (p.Gly69Ala) c.125G>C (p.Gly42Ala) c.170G>C (p.Gly57Ala) c.167G>C (p.Gly56Ala) c.59-6275G>C (n.59-6275G>C) n.385G>C c.53G>C (p.Gly18Ala) n.432G>C | dbSNP |
21 | g.34886988C>T | CA410203907 | RUNX1 | c.206G>A (p.Gly69Asp) c.125G>A (p.Gly42Asp) c.170G>A (p.Gly57Asp) c.167G>A (p.Gly56Asp) c.59-6275G>A (n.59-6275G>A) n.385G>A c.53G>A (p.Gly18Asp) n.432G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34886989C>A | CA410203909 | RUNX1 | c.205G>T (p.Gly69Cys) c.124G>T (p.Gly42Cys) c.169G>T (p.Gly57Cys) c.166G>T (p.Gly56Cys) c.59-6276G>T (n.59-6276G>T) n.384G>T c.52G>T (p.Gly18Cys) n.431G>T | dbSNP |
21 | g.34886989C= | CA2387297190 | RUNX1 | c.205G= (p.Gly69=) c.124G= (p.Gly42=) c.169G= (p.Gly57=) c.166G= (p.Gly56=) c.59-6276G= (n.59-6276G=) n.384G= c.52G= (p.Gly18=) n.431G= | |
21 | g.34886989C>G | CA10014569 | RUNX1 | c.205G>C (p.Gly69Arg) c.124G>C (p.Gly42Arg) c.169G>C (p.Gly57Arg) c.166G>C (p.Gly56Arg) c.59-6276G>C (n.59-6276G>C) n.384G>C c.52G>C (p.Gly18Arg) n.431G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.34886989C>T | CA320642805 | RUNX1 | c.205G>A (p.Gly69Ser) c.124G>A (p.Gly42Ser) c.169G>A (p.Gly57Ser) c.166G>A (p.Gly56Ser) c.59-6276G>A (n.59-6276G>A) n.384G>A c.52G>A (p.Gly18Ser) n.431G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.34886990G>A | CA320642815 | RUNX1 | c.204C>T (p.Ala68=) c.123C>T (p.Ala41=) c.168C>T (p.Ala56=) c.165C>T (p.Ala55=) c.59-6277C>T (n.59-6277C>T) n.383C>T c.51C>T (p.Ala17=) n.430C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886990G>C | CA10014570 | RUNX1 | c.204C>G (p.Ala68=) c.123C>G (p.Ala41=) c.168C>G (p.Ala56=) c.165C>G (p.Ala55=) c.59-6277C>G (n.59-6277C>G) n.383C>G c.51C>G (p.Ala17=) n.430C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886990G= | CA2387297191 | RUNX1 | c.204C= (p.Ala68=) c.123C= (p.Ala41=) c.168C= (p.Ala56=) c.165C= (p.Ala55=) c.59-6277C= (n.59-6277C=) n.383C= c.51C= (p.Ala17=) n.430C= | |
21 | g.34886990G>T | CA512318921 | RUNX1 | c.204C>A (p.Ala68=) c.123C>A (p.Ala41=) c.168C>A (p.Ala56=) c.165C>A (p.Ala55=) c.59-6277C>A (n.59-6277C>A) n.383C>A c.51C>A (p.Ala17=) n.430C>A | gnomAD v4 |
21 | g.34886991G>A | CA320642839 | RUNX1 | c.203C>T (p.Ala68Val) c.122C>T (p.Ala41Val) c.167C>T (p.Ala56Val) c.164C>T (p.Ala55Val) c.59-6278C>T (n.59-6278C>T) n.382C>T c.50C>T (p.Ala17Val) n.429C>T | dbSNP |
21 | g.34886991G>C | CA410203914 | RUNX1 | c.203C>G (p.Ala68Gly) c.122C>G (p.Ala41Gly) c.167C>G (p.Ala56Gly) c.164C>G (p.Ala55Gly) c.59-6278C>G (n.59-6278C>G) n.382C>G c.50C>G (p.Ala17Gly) n.429C>G | |
21 | g.34886991G= | CA2387297192 | RUNX1 | c.203C= (p.Ala68=) c.122C= (p.Ala41=) c.167C= (p.Ala56=) c.164C= (p.Ala55=) c.59-6278C= (n.59-6278C=) n.382C= c.50C= (p.Ala17=) n.429C= | |
21 | g.34886991G>T | CA410203916 | RUNX1 | c.203C>A (p.Ala68Asp) c.122C>A (p.Ala41Asp) c.167C>A (p.Ala56Asp) c.164C>A (p.Ala55Asp) c.59-6278C>A (n.59-6278C>A) n.382C>A c.50C>A (p.Ala17Asp) n.429C>A | gnomAD v4 |
21 | g.34886992C>A | CA410203921 | RUNX1 | c.202G>T (p.Ala68Ser) c.121G>T (p.Ala41Ser) c.166G>T (p.Ala56Ser) c.163G>T (p.Ala55Ser) c.59-6279G>T (n.59-6279G>T) n.381G>T c.49G>T (p.Ala17Ser) n.428G>T | dbSNP |
21 | g.34886992C>G | CA410203918 | RUNX1 | c.202G>C (p.Ala68Pro) c.121G>C (p.Ala41Pro) c.166G>C (p.Ala56Pro) c.163G>C (p.Ala55Pro) c.59-6279G>C (n.59-6279G>C) n.381G>C c.49G>C (p.Ala17Pro) n.428G>C | dbSNP gnomAD v4 |
21 | g.34886992C>T | CA410203917 | RUNX1 | c.202G>A (p.Ala68Thr) c.121G>A (p.Ala41Thr) c.166G>A (p.Ala56Thr) c.163G>A (p.Ala55Thr) c.59-6279G>A (n.59-6279G>A) n.381G>A c.49G>A (p.Ala17Thr) n.428G>A | dbSNP |
21 | g.34886993C>A | CA512318923 | RUNX1 | c.201G>T (p.Leu67=) c.120G>T (p.Leu40=) c.165G>T (p.Leu55=) c.162G>T (p.Leu54=) c.59-6280G>T (n.59-6280G>T) n.380G>T c.48G>T (p.Leu16=) n.427G>T | dbSNP |
21 | g.34886993C>G | CA512318922 | RUNX1 | c.201G>C (p.Leu67=) c.120G>C (p.Leu40=) c.165G>C (p.Leu55=) c.162G>C (p.Leu54=) c.59-6280G>C (n.59-6280G>C) n.380G>C c.48G>C (p.Leu16=) n.427G>C | |
21 | g.34886993C>T | CA512318924 | RUNX1 | c.201G>A (p.Leu67=) c.120G>A (p.Leu40=) c.165G>A (p.Leu55=) c.162G>A (p.Leu54=) c.59-6280G>A (n.59-6280G>A) n.380G>A c.48G>A (p.Leu16=) n.427G>A | dbSNP |
21 | g.34886994A= | CA2387297193 | RUNX1 | c.200T= (p.Leu67=) c.119T= (p.Leu40=) c.164T= (p.Leu55=) c.161T= (p.Leu54=) c.59-6281T= (n.59-6281T=) n.379T= c.47T= (p.Leu16=) n.426T= | |
21 | g.34886994A>C | CA410203923 | RUNX1 | c.200T>G (p.Leu67Arg) c.119T>G (p.Leu40Arg) c.164T>G (p.Leu55Arg) c.161T>G (p.Leu54Arg) c.59-6281T>G (n.59-6281T>G) n.379T>G c.47T>G (p.Leu16Arg) n.426T>G | dbSNP gnomAD v2 gnomAD v4 |
21 | g.34886994A>G | CA410203927 | RUNX1 | c.200T>C (p.Leu67Pro) c.119T>C (p.Leu40Pro) c.164T>C (p.Leu55Pro) c.161T>C (p.Leu54Pro) c.59-6281T>C (n.59-6281T>C) n.379T>C c.47T>C (p.Leu16Pro) n.426T>C | dbSNP |
21 | g.34886994A>T | CA410203925 | RUNX1 | c.200T>A (p.Leu67Gln) c.119T>A (p.Leu40Gln) c.164T>A (p.Leu55Gln) c.161T>A (p.Leu54Gln) c.59-6281T>A (n.59-6281T>A) n.379T>A c.47T>A (p.Leu16Gln) n.426T>A | |
21 | g.34886995G>A | CA512318925 | RUNX1 | c.199C>T (p.Leu67=) c.118C>T (p.Leu40=) c.163C>T (p.Leu55=) c.160C>T (p.Leu54=) c.59-6282C>T (n.59-6282C>T) n.378C>T c.46C>T (p.Leu16=) n.425C>T | dbSNP |
21 | g.34886995G>C | CA410203929 | RUNX1 | c.199C>G (p.Leu67Val) c.118C>G (p.Leu40Val) c.163C>G (p.Leu55Val) c.160C>G (p.Leu54Val) c.59-6282C>G (n.59-6282C>G) n.378C>G c.46C>G (p.Leu16Val) n.425C>G | |
21 | g.34886995G>T | CA410203931 | RUNX1 | c.199C>A (p.Leu67Met) c.118C>A (p.Leu40Met) c.163C>A (p.Leu55Met) c.160C>A (p.Leu54Met) c.59-6282C>A (n.59-6282C>A) n.378C>A c.46C>A (p.Leu16Met) n.425C>A | dbSNP |
21 | g.34886996G>A | CA512318927 | RUNX1 | c.198C>T (p.Ala66=) c.117C>T (p.Ala39=) c.162C>T (p.Ala54=) c.159C>T (p.Ala53=) c.59-6283C>T (n.59-6283C>T) n.377C>T c.45C>T (p.Ala15=) n.424C>T | dbSNP |
21 | g.34886996G>C | CA10014571 | RUNX1 | c.198C>G (p.Ala66=) c.117C>G (p.Ala39=) c.162C>G (p.Ala54=) c.159C>G (p.Ala53=) c.59-6283C>G (n.59-6283C>G) n.377C>G c.45C>G (p.Ala15=) n.424C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.34886996G= | CA2387297194 | RUNX1 | c.198C= (p.Ala66=) c.117C= (p.Ala39=) c.162C= (p.Ala54=) c.159C= (p.Ala53=) c.59-6283C= (n.59-6283C=) n.377C= c.45C= (p.Ala15=) n.424C= | |
21 | g.34886996G>T | CA512318926 | RUNX1 | c.198C>A (p.Ala66=) c.117C>A (p.Ala39=) c.162C>A (p.Ala54=) c.159C>A (p.Ala53=) c.59-6283C>A (n.59-6283C>A) n.377C>A c.45C>A (p.Ala15=) n.424C>A | |
21 | g.34887000_34887027dup | CA913189258 | RUNX1 | c.171_198dup (p.Leu67AlafsTer?) c.90_117dup (p.Leu40AlafsTer?) c.135_162dup (p.Leu55AlafsTer?) c.132_159dup (p.Leu54AlafsTer?) c.59-6310_59-6283dup (n.59-6310_59-6283dup) n.350_377dup c.18_45dup (p.Leu16AlafsTer?) n.397_424dup | |
21 | g.34887000_34887027del | CA2577483766 | RUNX1 | c.171_198del (p.Leu58TrpfsTer5) c.90_117del (p.Leu31TrpfsTer5) c.135_162del (p.Leu46TrpfsTer5) c.132_159del (p.Leu45TrpfsTer5) c.59-6310_59-6283del (n.59-6310_59-6283del) n.350_377del c.18_45del (p.Leu7TrpfsTer5) n.397_424del | |
21 | g.34886997G>A | CA410203934 | RUNX1 | c.197C>T (p.Ala66Val) c.116C>T (p.Ala39Val) c.161C>T (p.Ala54Val) c.158C>T (p.Ala53Val) c.59-6284C>T (n.59-6284C>T) n.376C>T c.44C>T (p.Ala15Val) n.423C>T | dbSNP |
21 | g.34886997G>C | CA410203936 | RUNX1 | c.197C>G (p.Ala66Gly) c.116C>G (p.Ala39Gly) c.161C>G (p.Ala54Gly) c.158C>G (p.Ala53Gly) c.59-6284C>G (n.59-6284C>G) n.376C>G c.44C>G (p.Ala15Gly) n.423C>G | dbSNP |
21 | g.34886997G>T | CA410203938 | RUNX1 | c.197C>A (p.Ala66Asp) c.116C>A (p.Ala39Asp) c.161C>A (p.Ala54Asp) c.158C>A (p.Ala53Asp) c.59-6284C>A (n.59-6284C>A) n.376C>A c.44C>A (p.Ala15Asp) n.423C>A | ClinVar gnomAD v4 |
21 | g.34886997_34887028delinsGCAGCGCCGGCGTCCGGGGCGCCCAGCGGCAA | CA2387297195 | RUNX1 | c.166_197delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu56=) c.85_116delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu29=) c.130_161delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu44=) c.127_158delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu43=) c.59-6315_59-6284delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (n.59-6315_59-6284delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC) n.345_376delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC c.13_44delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC (p.Leu5=) n.392_423delinsTTGCCGCTGGGCGCCCCGGACGCCGGCGCTGC | |
21 | g.34886998C>A | CA410203940 | RUNX1 | c.196G>T (p.Ala66Ser) c.115G>T (p.Ala39Ser) c.160G>T (p.Ala54Ser) c.157G>T (p.Ala53Ser) c.59-6285G>T (n.59-6285G>T) n.375G>T c.43G>T (p.Ala15Ser) n.422G>T | dbSNP |
21 | g.34886998C>G | CA410203942 | RUNX1 | c.196G>C (p.Ala66Pro) c.115G>C (p.Ala39Pro) c.160G>C (p.Ala54Pro) c.157G>C (p.Ala53Pro) c.59-6285G>C (n.59-6285G>C) n.375G>C c.43G>C (p.Ala15Pro) n.422G>C | |
21 | g.34886998C>T | CA410203944 | RUNX1 | c.196G>A (p.Ala66Thr) c.115G>A (p.Ala39Thr) c.160G>A (p.Ala54Thr) c.157G>A (p.Ala53Thr) c.59-6285G>A (n.59-6285G>A) n.375G>A c.43G>A (p.Ala15Thr) n.422G>A | ClinVar dbSNP gnomAD v4 |
21 | g.34886999_34887004del | CA2573157364 | RUNX1 | c.191_196del (p.Gly64_Ala65del) c.110_115del (p.Gly37_Ala38del) c.155_160del (p.Gly52_Ala53del) c.152_157del (p.Gly51_Ala52del) c.59-6290_59-6285del (n.59-6290_59-6285del) n.370_375del c.38_43del (p.Gly13_Ala14del) n.417_422del | ClinVar dbSNP |
21 | g.34886999_34887029del | CA913189256 | RUNX1 | c.166_196del (p.Leu56ProfsTer6) c.85_115del (p.Leu29ProfsTer6) c.130_160del (p.Leu44ProfsTer6) c.127_157del (p.Leu43ProfsTer6) c.59-6315_59-6285del (n.59-6315_59-6285del) n.345_375del c.13_43del (p.Leu5ProfsTer6) n.392_422del | ClinVar dbSNP |