Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 28846 single nucleotide variant NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) 267606704 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN221809 11 119148880 119148880 A C 28846 single nucleotide variant NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) 267606704 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN221809 11 119278170 119278170 A C 28847 single nucleotide variant NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) 267606705 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119148924 119148924 A G 28847 single nucleotide variant NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) 267606705 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119278214 119278214 A G 28848 single nucleotide variant NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr) 267606707 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119148948 119148948 G T 28848 single nucleotide variant NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr) 267606707 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119278238 119278238 G T 28849 single nucleotide variant NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) 267606708 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN221809 11 119149251 119149251 G A 28849 single nucleotide variant NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) 267606708 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN221809 11 119278541 119278541 G A 28850 single nucleotide variant NM_005188.3(CBL):c.1111T>C (p.Tyr371His) 267606706 MedGen:C4016301 11 119148891 119148891 T C 28850 single nucleotide variant NM_005188.3(CBL):c.1111T>C (p.Tyr371His) 267606706 MedGen:C4016301 11 119278181 119278181 T C 38776 single nucleotide variant CBL, IVS8AS, A-G, -2 -1 MedGen:C4016301 na -1 -1 na na 38777 single nucleotide variant NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) 387906664 MedGen:C4016301 11 119148930 119148930 T C 38777 single nucleotide variant NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) 387906664 MedGen:C4016301 11 119278220 119278220 T C 38778 single nucleotide variant NM_005188.3(CBL):c.1186T>C (p.Cys396Arg) 387906665 MedGen:C4016301;MedGen:CN221809 11 119148966 119148966 T C 38778 single nucleotide variant NM_005188.3(CBL):c.1186T>C (p.Cys396Arg) 387906665 MedGen:C4016301;MedGen:CN221809 11 119278256 119278256 T C 38779 single nucleotide variant NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys) 387906666 MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C4016301 11 119148892 119148892 A G 38779 single nucleotide variant NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys) 387906666 MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C4016301 11 119278182 119278182 A G 48870 duplication NM_005188.3(CBL):c.125_127dupACC (p.His42_Leu43insHis) 397507488 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119077252 119077254 ACC ACCACC 48870 duplication NM_005188.3(CBL):c.125_127dupACC (p.His42_Leu43insHis) 397507488 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119206542 119206544 ACC ACCACC 48871 single nucleotide variant NM_005188.3(CBL):c.306T>G (p.Tyr102Ter) 397507489 MedGen:CN221809 11 119103268 119103268 T G 48871 single nucleotide variant NM_005188.3(CBL):c.306T>G (p.Tyr102Ter) 397507489 MedGen:CN221809 11 119232558 119232558 T G 48872 single nucleotide variant NM_005188.3(CBL):c.698A>G (p.Asn233Ser) 143276937 MedGen:CN169374 11 119144685 119144685 A G 48872 single nucleotide variant NM_005188.3(CBL):c.698A>G (p.Asn233Ser) 143276937 MedGen:CN169374 11 119273975 119273975 A G 48874 deletion NM_005188.3(CBL):c.1076_1087delACCATATCAAAG (p.Asp359_Lys362del) 397507490 MedGen:CN166718,Orphanet:ORPHA98733 11 119148535 119148546 ACCATATCAAAG - 48874 deletion NM_005188.3(CBL):c.1076_1087delACCATATCAAAG (p.Asp359_Lys362del) 397507490 MedGen:CN166718,Orphanet:ORPHA98733 11 119277825 119277836 ACCATATCAAAG - 48875 single nucleotide variant NM_005188.3(CBL):c.1199T>G (p.Met400Arg) 397507491 MedGen:CN221809 11 119148979 119148979 T G 48875 single nucleotide variant NM_005188.3(CBL):c.1199T>G (p.Met400Arg) 397507491 MedGen:CN221809 11 119278269 119278269 T G 48876 single nucleotide variant NM_005188.3(CBL):c.1201T>C (p.Cys401Arg) 397507492 MedGen:CN221809 11 119148981 119148981 T C 48876 single nucleotide variant NM_005188.3(CBL):c.1201T>C (p.Cys401Arg) 397507492 MedGen:CN221809 11 119278271 119278271 T C 48877 indel NM_005188.3(CBL):c.1227+2_1227+4delTACinsAAG 397507493 MedGen:CN166718,Orphanet:ORPHA98733 11 119149009 119149011 TAC AAG 48877 indel NM_005188.3(CBL):c.1227+2_1227+4delTACinsAAG 397507493 MedGen:CN166718,Orphanet:ORPHA98733 11 119278299 119278301 TAC AAG 48878 duplication NM_005188.3(CBL):c.1227+20dup 886038558 MedGen:CN169374 11 119149027 119149027 C CC 48878 duplication NM_005188.3(CBL):c.1227+20dup 886038558 MedGen:CN169374 11 119278317 119278317 C CC 48882 single nucleotide variant NM_005188.3(CBL):c.1459A>G (p.Met487Val) 17848896 MedGen:CN169374 11 119155706 119155706 A G 48882 single nucleotide variant NM_005188.3(CBL):c.1459A>G (p.Met487Val) 17848896 MedGen:CN169374 11 119284996 119284996 A G 48883 single nucleotide variant NM_005188.3(CBL):c.1723A>G (p.Arg575Gly) 374515645 MedGen:CN169374 11 119156058 119156058 A G 48883 single nucleotide variant NM_005188.3(CBL):c.1723A>G (p.Arg575Gly) 374515645 MedGen:CN169374 11 119285348 119285348 A G 48884 single nucleotide variant NM_005188.3(CBL):c.1823C>A (p.Pro608His) 397507495 MedGen:CN169374 11 119156158 119156158 C A 48884 single nucleotide variant NM_005188.3(CBL):c.1823C>A (p.Pro608His) 397507495 MedGen:CN169374 11 119285448 119285448 C A 48885 single nucleotide variant NM_005188.3(CBL):c.1871T>C (p.Leu624Ser) 150550899 MedGen:CN169374 11 119156206 119156206 T C 48885 single nucleotide variant NM_005188.3(CBL):c.1871T>C (p.Leu624Ser) 150550899 MedGen:CN169374 11 119285496 119285496 T C 48886 single nucleotide variant NM_005188.3(CBL):c.1991T>C (p.Ile664Thr) 397507496 MedGen:CN169374 11 119158611 119158611 T C 48886 single nucleotide variant NM_005188.3(CBL):c.1991T>C (p.Ile664Thr) 397507496 MedGen:CN169374 11 119287901 119287901 T C 48887 single nucleotide variant NM_005188.3(CBL):c.2206A>G (p.Asn736Asp) 397507497 MedGen:CN169374 11 119168146 119168146 A G 48887 single nucleotide variant NM_005188.3(CBL):c.2206A>G (p.Asn736Asp) 397507497 MedGen:CN169374 11 119297436 119297436 A G 48888 single nucleotide variant NM_005188.3(CBL):c.2216C>T (p.Ser739Phe) 2227986 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119168156 119168156 C T 48888 single nucleotide variant NM_005188.3(CBL):c.2216C>T (p.Ser739Phe) 2227986 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119297446 119297446 C T 48889 single nucleotide variant NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) 146517083 MedGen:CN239316;MedGen:CN169374 11 119169085 119169085 G A 48889 single nucleotide variant NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) 146517083 MedGen:CN239316;MedGen:CN169374 11 119298375 119298375 G A 48890 single nucleotide variant NM_005188.3(CBL):c.2312A>T (p.Asp771Val) 199788586 MedGen:CN169374 11 119169128 119169128 A T 48890 single nucleotide variant NM_005188.3(CBL):c.2312A>T (p.Asp771Val) 199788586 MedGen:CN169374 11 119298418 119298418 A T 48891 single nucleotide variant NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) 2229073 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119169161 119169161 C T 48891 single nucleotide variant NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) 2229073 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119298451 119298451 C T 48892 single nucleotide variant NM_005188.3(CBL):c.2350G>A (p.Val784Met) 140725852 MedGen:CN169374 11 119169166 119169166 G A 48892 single nucleotide variant NM_005188.3(CBL):c.2350G>A (p.Val784Met) 140725852 MedGen:CN169374 11 119298456 119298456 G A 48893 single nucleotide variant NM_005188.3(CBL):c.2360G>A (p.Arg787His) 200220863 MedGen:CN169374 11 119169176 119169176 G A 48893 single nucleotide variant NM_005188.3(CBL):c.2360G>A (p.Arg787His) 200220863 MedGen:CN169374 11 119298466 119298466 G A 48894 single nucleotide variant NM_005188.3(CBL):c.2484G>A (p.Pro828=) 149533467 MedGen:CN169374 11 119170254 119170254 G A 48894 single nucleotide variant NM_005188.3(CBL):c.2484G>A (p.Pro828=) 149533467 MedGen:CN169374 11 119299544 119299544 G A 48895 single nucleotide variant NM_005188.3(CBL):c.2542G>A (p.Ala848Thr) 141710973 MedGen:CN169374 11 119170312 119170312 G A 48895 single nucleotide variant NM_005188.3(CBL):c.2542G>A (p.Ala848Thr) 141710973 MedGen:CN169374 11 119299602 119299602 G A 48896 single nucleotide variant NM_005188.3(CBL):c.2584G>A (p.Glu862Lys) 397507498 MedGen:CN169374 11 119170354 119170354 G A 48896 single nucleotide variant NM_005188.3(CBL):c.2584G>A (p.Glu862Lys) 397507498 MedGen:CN169374 11 119299644 119299644 G A 48897 single nucleotide variant NM_005188.3(CBL):c.2588A>G (p.Asn863Ser) 146250423 MedGen:CN169374 11 119170358 119170358 A G 48897 single nucleotide variant NM_005188.3(CBL):c.2588A>G (p.Asn863Ser) 146250423 MedGen:CN169374 11 119299648 119299648 A G 48898 single nucleotide variant NM_005188.3(CBL):c.2692A>G (p.Ile898Val) 397507499 MedGen:CN169374 11 119170462 119170462 A G 48898 single nucleotide variant NM_005188.3(CBL):c.2692A>G (p.Ile898Val) 397507499 MedGen:CN169374 11 119299752 119299752 A G 54362 single nucleotide variant NM_005188.3(CBL):c.1071C>T (p.Pro357=) 397517075 MedGen:CN169374 11 119148530 119148530 C T 54362 single nucleotide variant NM_005188.3(CBL):c.1071C>T (p.Pro357=) 397517075 MedGen:CN169374 11 119277820 119277820 C T 54363 single nucleotide variant NM_005188.3(CBL):c.1096-1G>C 397517076 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119148875 119148875 G C 54363 single nucleotide variant NM_005188.3(CBL):c.1096-1G>C 397517076 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119278165 119278165 G C 54364 deletion NM_005188.3(CBL):c.1096-4_1096-1delAAAG 397517077 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN166718,Orphanet:ORPHA98733 11 119148872 119148875 AAAG - 54364 deletion NM_005188.3(CBL):c.1096-4_1096-1delAAAG 397517077 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN166718,Orphanet:ORPHA98733 11 119278162 119278165 AAAG - 54365 single nucleotide variant NM_005188.3(CBL):c.1227+4C>T 201747825 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119149011 119149011 C T 54365 single nucleotide variant NM_005188.3(CBL):c.1227+4C>T 201747825 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119278301 119278301 C T 54366 duplication NM_005188.3(CBL):c.1228-10dupT 397517078 MedGen:CN239316;MedGen:CN169374 11 119149210 119149210 T TT 54366 duplication NM_005188.3(CBL):c.1228-10dupT 397517078 MedGen:CN239316;MedGen:CN169374 11 119278500 119278500 T TT 54367 duplication NM_005188.3(CBL):c.1380_1382dupTGA (p.Asp460_Glu461insAsp) 397507494 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119149372 119149374 TGA TGATGA 54367 duplication NM_005188.3(CBL):c.1380_1382dupTGA (p.Asp460_Glu461insAsp) 397507494 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119278662 119278664 TGA TGATGA 54368 single nucleotide variant NM_005188.3(CBL):c.1485G>A (p.Pro495=) 2229072 MedGen:CN239316;MedGen:CN169374 11 119155732 119155732 G A 54368 single nucleotide variant NM_005188.3(CBL):c.1485G>A (p.Pro495=) 2229072 MedGen:CN239316;MedGen:CN169374 11 119285022 119285022 G A 54369 single nucleotide variant NM_005188.3(CBL):c.1641T>C (p.Pro547=) 61755280 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119155976 119155976 T C 54369 single nucleotide variant NM_005188.3(CBL):c.1641T>C (p.Pro547=) 61755280 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119285266 119285266 T C 54370 single nucleotide variant NM_005188.3(CBL):c.1858C>T (p.Leu620Phe) 2227988 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119156193 119156193 C T 54370 single nucleotide variant NM_005188.3(CBL):c.1858C>T (p.Leu620Phe) 2227988 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119285483 119285483 C T 54371 duplication NM_005188.3(CBL):c.2434+15dupT 397517079 MedGen:CN169374 11 119169265 119169265 T TT 54371 duplication NM_005188.3(CBL):c.2434+15dupT 397517079 MedGen:CN169374 11 119298555 119298555 T TT 54372 single nucleotide variant NM_005188.3(CBL):c.2486G>A (p.Arg829Gln) 374672276 MedGen:CN169374 11 119170256 119170256 G A 54372 single nucleotide variant NM_005188.3(CBL):c.2486G>A (p.Arg829Gln) 374672276 MedGen:CN169374 11 119299546 119299546 G A 54373 single nucleotide variant NM_005188.3(CBL):c.2583C>T (p.Ile861=) 397517080 MedGen:CN169374 11 119170353 119170353 C T 54373 single nucleotide variant NM_005188.3(CBL):c.2583C>T (p.Ile861=) 397517080 MedGen:CN169374 11 119299643 119299643 C T 54374 single nucleotide variant NM_005188.3(CBL):c.2589C>G (p.Asn863Lys) 397517081 MedGen:CN169374 11 119170359 119170359 C G 54374 single nucleotide variant NM_005188.3(CBL):c.2589C>G (p.Asn863Lys) 397517081 MedGen:CN169374 11 119299649 119299649 C G 54375 single nucleotide variant NM_005188.3(CBL):c.2592C>T (p.Leu864=) 1893177 MedGen:CN239316;MedGen:CN169374 11 119170362 119170362 C T 54375 single nucleotide variant NM_005188.3(CBL):c.2592C>T (p.Leu864=) 1893177 MedGen:CN239316;MedGen:CN169374 11 119299652 119299652 C T 54376 single nucleotide variant NM_005188.3(CBL):c.513T>C (p.Ser171=) 2227987 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119142514 119142514 T C 54376 single nucleotide variant NM_005188.3(CBL):c.513T>C (p.Ser171=) 2227987 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119271804 119271804 T C 54377 single nucleotide variant NM_005188.3(CBL):c.595A>G (p.Ile199Val) 397517082 MedGen:CN169374 11 119144582 119144582 A G 54377 single nucleotide variant NM_005188.3(CBL):c.595A>G (p.Ile199Val) 397517082 MedGen:CN169374 11 119273872 119273872 A G 54378 single nucleotide variant NM_005188.3(CBL):c.869+4A>G 77284821 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN221809;MedGen:CN169374 11 119145667 119145667 A G 54378 single nucleotide variant NM_005188.3(CBL):c.869+4A>G 77284821 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN221809;MedGen:CN169374 11 119274957 119274957 A G 70451 single nucleotide variant NM_005188.3(CBL):c.869+19A>G 181589369 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119145682 119145682 A G 70451 single nucleotide variant NM_005188.3(CBL):c.869+19A>G 181589369 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119274972 119274972 A G 70452 single nucleotide variant NM_005188.3(CBL):c.1095+19G>T 2510152 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119148573 119148573 G T 70452 single nucleotide variant NM_005188.3(CBL):c.1095+19G>T 2510152 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119277863 119277863 G T 89092 single nucleotide variant NM_005188.3(CBL):c.445C>T (p.Arg149Ter) 267602720 MedGen:CN169374 11 119142446 119142446 C T 89092 single nucleotide variant NM_005188.3(CBL):c.445C>T (p.Arg149Ter) 267602720 MedGen:CN169374 11 119271736 119271736 C T 89092 single nucleotide variant NM_005188.3(CBL):c.445C>T (p.Arg149Ter) 267602720 MedGen:CN169374 11 118647656 118647656 C T 125841 single nucleotide variant NM_005188.3(CBL):c.1463C>T (p.Ala488Val) 377502790 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN239316 11 119155710 119155710 C T 125841 single nucleotide variant NM_005188.3(CBL):c.1463C>T (p.Ala488Val) 377502790 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN239316 11 119285000 119285000 C T 125842 single nucleotide variant NM_005188.3(CBL):c.1711G>A (p.Asp571Asn) 483352825 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119285336 119285336 G A 125842 single nucleotide variant NM_005188.3(CBL):c.1711G>A (p.Asp571Asn) 483352825 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119156046 119156046 G A 137546 single nucleotide variant NM_005188.3(CBL):c.2050C>T (p.Pro684Ser) 587778154 MedGen:CN239316;MedGen:CN169374 11 119167641 119167641 C T 137546 single nucleotide variant NM_005188.3(CBL):c.2050C>T (p.Pro684Ser) 587778154 MedGen:CN239316;MedGen:CN169374 11 119296931 119296931 C T 137547 single nucleotide variant NM_005188.3(CBL):c.2125C>T (p.Arg709Trp) 587778155 MedGen:CN169374 11 119167716 119167716 C T 137547 single nucleotide variant NM_005188.3(CBL):c.2125C>T (p.Arg709Trp) 587778155 MedGen:CN169374 11 119297006 119297006 C T 137548 single nucleotide variant NM_005188.3(CBL):c.2077G>A (p.Glu693Lys) 587778156 MedGen:CN169374 11 119167668 119167668 G A 137548 single nucleotide variant NM_005188.3(CBL):c.2077G>A (p.Glu693Lys) 587778156 MedGen:CN169374 11 119296958 119296958 G A 137549 single nucleotide variant NM_005188.3(CBL):c.2224C>T (p.Pro742Ser) 587778157 MedGen:CN169374 11 119168164 119168164 C T 137549 single nucleotide variant NM_005188.3(CBL):c.2224C>T (p.Pro742Ser) 587778157 MedGen:CN169374 11 119297454 119297454 C T 137550 single nucleotide variant NM_005188.3(CBL):c.2393C>T (p.Ser798Phe) 587778158 MedGen:CN169374 11 119169209 119169209 C T 137550 single nucleotide variant NM_005188.3(CBL):c.2393C>T (p.Ser798Phe) 587778158 MedGen:CN169374 11 119298499 119298499 C T 137551 single nucleotide variant NM_005188.3(CBL):c.2530A>C (p.Ser844Arg) 587778159 MedGen:CN169374 11 119170300 119170300 A C 137551 single nucleotide variant NM_005188.3(CBL):c.2530A>C (p.Ser844Arg) 587778159 MedGen:CN169374 11 119299590 119299590 A C 137552 single nucleotide variant NM_005188.3(CBL):c.2710G>A (p.Val904Ile) 17122769 MedGen:CN239316;MedGen:CN169374 11 119170480 119170480 G A 137552 single nucleotide variant NM_005188.3(CBL):c.2710G>A (p.Val904Ile) 17122769 MedGen:CN239316;MedGen:CN169374 11 119299770 119299770 G A 137553 single nucleotide variant NM_005188.3(CBL):c.271A>G (p.Thr91Ala) 587778160 MedGen:CN169374 11 119103233 119103233 A G 137553 single nucleotide variant NM_005188.3(CBL):c.271A>G (p.Thr91Ala) 587778160 MedGen:CN169374 11 119232523 119232523 A G 137554 single nucleotide variant NM_005188.3(CBL):c.388A>G (p.Ile130Val) 587778161 MedGen:CN169374 11 119103350 119103350 A G 137554 single nucleotide variant NM_005188.3(CBL):c.388A>G (p.Ile130Val) 587778161 MedGen:CN169374 11 119232640 119232640 A G 137555 single nucleotide variant NM_005188.3(CBL):c.560C>T (p.Ala187Val) 587778162 MedGen:CN169374 11 119142561 119142561 C T 137555 single nucleotide variant NM_005188.3(CBL):c.560C>T (p.Ala187Val) 587778162 MedGen:CN169374 11 119271851 119271851 C T 140365 single nucleotide variant NM_005188.3(CBL):c.1095+18T>G 532317818 MedGen:CN169374 11 119277862 119277862 T G 140365 single nucleotide variant NM_005188.3(CBL):c.1095+18T>G 532317818 MedGen:CN169374 11 119148572 119148572 T G 140366 single nucleotide variant NM_005188.3(CBL):c.1287C>T (p.Ile429=) 148368481 MedGen:CN239316;MedGen:CN169374 11 119278569 119278569 C T 140366 single nucleotide variant NM_005188.3(CBL):c.1287C>T (p.Ile429=) 148368481 MedGen:CN239316;MedGen:CN169374 11 119149279 119149279 C T 140367 single nucleotide variant NM_005188.3(CBL):c.1564-13C>T 117902985 MedGen:CN239316;MedGen:CN169374 11 119285176 119285176 C T 140367 single nucleotide variant NM_005188.3(CBL):c.1564-13C>T 117902985 MedGen:CN239316;MedGen:CN169374 11 119155886 119155886 C T 140368 single nucleotide variant NM_005188.3(CBL):c.2190G>C (p.Thr730=) 143840974 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119297420 119297420 G C 140368 single nucleotide variant NM_005188.3(CBL):c.2190G>C (p.Thr730=) 143840974 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119168130 119168130 G C 150139 single nucleotide variant NM_005188.3(CBL):c.1228-1G>A 587777540 MedGen:CN221809 11 119278509 119278509 G A 150139 single nucleotide variant NM_005188.3(CBL):c.1228-1G>A 587777540 MedGen:CN221809 11 119149219 119149219 G A 175064 single nucleotide variant NM_005188.3(CBL):c.12C>T (p.Asn4=) 371567712 MedGen:CN169374 11 119077139 119077139 C T 175064 single nucleotide variant NM_005188.3(CBL):c.12C>T (p.Asn4=) 371567712 MedGen:CN169374 11 119206429 119206429 C T 175065 single nucleotide variant NM_005188.3(CBL):c.801C>G (p.Gly267=) 727502913 MedGen:CN169374 11 119145595 119145595 C G 175065 single nucleotide variant NM_005188.3(CBL):c.801C>G (p.Gly267=) 727502913 MedGen:CN169374 11 119274885 119274885 C G 175066 single nucleotide variant NM_005188.3(CBL):c.1129A>G (p.Thr377Ala) 727502914 MedGen:CN169374 11 119148909 119148909 A G 175066 single nucleotide variant NM_005188.3(CBL):c.1129A>G (p.Thr377Ala) 727502914 MedGen:CN169374 11 119278199 119278199 A G 175067 single nucleotide variant NM_005188.3(CBL):c.1359A>C (p.Pro453=) 34732429 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119149351 119149351 A C 175067 single nucleotide variant NM_005188.3(CBL):c.1359A>C (p.Pro453=) 34732429 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119278641 119278641 A C 175068 single nucleotide variant NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) 727504640 MedGen:CN169374 11 119156089 119156089 G T 175068 single nucleotide variant NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) 727504640 MedGen:CN169374 11 119285379 119285379 G T 175069 single nucleotide variant NM_005188.3(CBL):c.2359C>T (p.Arg787Cys) 143132980 MedGen:CN169374 11 119169175 119169175 C T 175069 single nucleotide variant NM_005188.3(CBL):c.2359C>T (p.Arg787Cys) 143132980 MedGen:CN169374 11 119298465 119298465 C T 175343 single nucleotide variant NM_005188.3(CBL):c.522T>C (p.Phe174=) 727502912 MedGen:CN169374 11 119142523 119142523 T C 175343 single nucleotide variant NM_005188.3(CBL):c.522T>C (p.Phe174=) 727502912 MedGen:CN169374 11 119271813 119271813 T C 175344 single nucleotide variant NM_005188.3(CBL):c.1099C>A (p.Gln367Lys) 727504504 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119148879 119148879 C A 175344 single nucleotide variant NM_005188.3(CBL):c.1099C>A (p.Gln367Lys) 727504504 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119278169 119278169 C A 175345 single nucleotide variant NM_005188.3(CBL):c.1228-2A>G 727504426 MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN221809 11 119149218 119149218 A G 175345 single nucleotide variant NM_005188.3(CBL):c.1228-2A>G 727504426 MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834;MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN221809 11 119278508 119278508 A G 175346 single nucleotide variant NM_005188.3(CBL):c.1647C>A (p.Asp549Glu) 369030902 MedGen:CN169374 11 119155982 119155982 C A 175346 single nucleotide variant NM_005188.3(CBL):c.1647C>A (p.Asp549Glu) 369030902 MedGen:CN169374 11 119285272 119285272 C A 175347 single nucleotide variant NM_005188.3(CBL):c.1962A>G (p.Leu654=) 727502915 MedGen:CN169374 11 119158582 119158582 A G 175347 single nucleotide variant NM_005188.3(CBL):c.1962A>G (p.Leu654=) 727502915 MedGen:CN169374 11 119287872 119287872 A G 178636 single nucleotide variant NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) 376536789 MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:C0028326 11 119299579 119299579 G C 178636 single nucleotide variant NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) 376536789 MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:C0028326 11 119170289 119170289 G C 179149 single nucleotide variant NM_005188.3(CBL):c.125A>T (p.His42Leu) 730880433 MedGen:CN166718,Orphanet:ORPHA98733 11 119077252 119077252 A T 179149 single nucleotide variant NM_005188.3(CBL):c.125A>T (p.His42Leu) 730880433 MedGen:CN166718,Orphanet:ORPHA98733 11 119206542 119206542 A T 179150 deletion NM_005188.3(CBL):c.125_127delACC (p.His42del) 730880426 MedGen:CN166718,Orphanet:ORPHA98733 11 119206542 119206544 ACC - 179150 deletion NM_005188.3(CBL):c.125_127delACC (p.His42del) 730880426 MedGen:CN166718,Orphanet:ORPHA98733 11 119077252 119077254 ACC - 179151 single nucleotide variant NM_005188.3(CBL):c.202C>T (p.Arg68Trp) 730880429 MedGen:CN169374 11 119232454 119232454 C T 179151 single nucleotide variant NM_005188.3(CBL):c.202C>T (p.Arg68Trp) 730880429 MedGen:CN169374 11 119103164 119103164 C T 179152 single nucleotide variant NM_005188.3(CBL):c.469A>G (p.Ile157Val) 730880430 MedGen:CN169374 11 119142470 119142470 A G 179152 single nucleotide variant NM_005188.3(CBL):c.469A>G (p.Ile157Val) 730880430 MedGen:CN169374 11 119271760 119271760 A G 179153 single nucleotide variant NM_005188.3(CBL):c.539G>A (p.Arg180Gln) 730880431 MedGen:CN169374 11 119142540 119142540 G A 179153 single nucleotide variant NM_005188.3(CBL):c.539G>A (p.Arg180Gln) 730880431 MedGen:CN169374 11 119271830 119271830 G A 179154 single nucleotide variant NM_005188.3(CBL):c.838C>T (p.Arg280Trp) 730880432 MedGen:CN166718,Orphanet:ORPHA98733 11 119145632 119145632 C T 179154 single nucleotide variant NM_005188.3(CBL):c.838C>T (p.Arg280Trp) 730880432 MedGen:CN166718,Orphanet:ORPHA98733 11 119274922 119274922 C T 179155 deletion NM_005188.3(CBL):c.976delC (p.Gln326Lysfs) 730880436 MedGen:CN166718,Orphanet:ORPHA98733 11 119146813 119146813 C - 179155 deletion NM_005188.3(CBL):c.976delC (p.Gln326Lysfs) 730880436 MedGen:CN166718,Orphanet:ORPHA98733 11 119276103 119276103 C - 179156 single nucleotide variant NM_005188.3(CBL):c.1096-1G>T 397517076 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN221809 11 119148875 119148875 G T 179156 single nucleotide variant NM_005188.3(CBL):c.1096-1G>T 397517076 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972;MedGen:CN221809 11 119278165 119278165 G T 179157 single nucleotide variant NM_005188.3(CBL):c.1111T>A (p.Tyr371Asn) 267606706 MedGen:CN166718,Orphanet:ORPHA98733 11 119278181 119278181 T A 179157 single nucleotide variant NM_005188.3(CBL):c.1111T>A (p.Tyr371Asn) 267606706 MedGen:CN166718,Orphanet:ORPHA98733 11 119148891 119148891 T A 179158 single nucleotide variant NM_005188.3(CBL):c.1150T>G (p.Cys384Gly) 387906664 MedGen:CN166718,Orphanet:ORPHA98733 11 119278220 119278220 T G 179158 single nucleotide variant NM_005188.3(CBL):c.1150T>G (p.Cys384Gly) 387906664 MedGen:CN166718,Orphanet:ORPHA98733 11 119148930 119148930 T G 179159 single nucleotide variant NM_005188.3(CBL):c.1298C>T (p.Pro433Leu) 140627020 MedGen:CN169374 11 119149290 119149290 C T 179159 single nucleotide variant NM_005188.3(CBL):c.1298C>T (p.Pro433Leu) 140627020 MedGen:CN169374 11 119278580 119278580 C T 179160 single nucleotide variant NM_005188.3(CBL):c.1477C>T (p.Leu493Phe) 730880434 MedGen:CN169374 11 119155724 119155724 C T 179160 single nucleotide variant NM_005188.3(CBL):c.1477C>T (p.Leu493Phe) 730880434 MedGen:CN169374 11 119285014 119285014 C T 179161 single nucleotide variant NM_005188.3(CBL):c.1754G>A (p.Arg585His) 727504640 MedGen:CN169374 11 119156089 119156089 G A 179161 single nucleotide variant NM_005188.3(CBL):c.1754G>A (p.Arg585His) 727504640 MedGen:CN169374 11 119285379 119285379 G A 179162 single nucleotide variant NM_005188.3(CBL):c.1778G>A (p.Arg593Gln) 730880435 MedGen:CN169374 11 119285403 119285403 G A 179162 single nucleotide variant NM_005188.3(CBL):c.1778G>A (p.Arg593Gln) 730880435 MedGen:CN169374 11 119156113 119156113 G A 179163 single nucleotide variant NM_005188.3(CBL):c.1829C>A (p.Thr610Lys) 730880427 MedGen:CN239316;MedGen:CN169374 11 119156164 119156164 C A 179163 single nucleotide variant NM_005188.3(CBL):c.1829C>A (p.Thr610Lys) 730880427 MedGen:CN239316;MedGen:CN169374 11 119285454 119285454 C A 179164 single nucleotide variant NM_005188.3(CBL):c.2060C>T (p.Pro687Leu) 146705974 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733 11 119167651 119167651 C T 179164 single nucleotide variant NM_005188.3(CBL):c.2060C>T (p.Pro687Leu) 146705974 MedGen:CN239316;MedGen:CN166718,Orphanet:ORPHA98733 11 119296941 119296941 C T 179165 single nucleotide variant NM_005188.3(CBL):c.2062C>T (p.Pro688Ser) 730880428 MedGen:CN169374 11 119296943 119296943 C T 179165 single nucleotide variant NM_005188.3(CBL):c.2062C>T (p.Pro688Ser) 730880428 MedGen:CN169374 11 119167653 119167653 C T 179166 single nucleotide variant NM_005188.3(CBL):c.2363G>A (p.Arg788Gln) 150811339 MedGen:CN169374 11 119169179 119169179 G A 179166 single nucleotide variant NM_005188.3(CBL):c.2363G>A (p.Arg788Gln) 150811339 MedGen:CN169374 11 119298469 119298469 G A 179167 single nucleotide variant NM_005188.3(CBL):c.2503C>T (p.Arg835Trp) 368696716 MedGen:CN169374 11 119170273 119170273 C T 179167 single nucleotide variant NM_005188.3(CBL):c.2503C>T (p.Arg835Trp) 368696716 MedGen:CN169374 11 119299563 119299563 C T 179915 insertion NM_005188.2:c.1227+20insC -1 MedGen:CN166718,Orphanet:ORPHA98733 na -1 -1 na na 179916 insertion NM_005188.2:c.1228-10insT -1 MedGen:CN166718,Orphanet:ORPHA98733 na -1 -1 na na 179917 insertion NM_005188.2:c.1227+2_1227+3delTACinsAAG -1 MedGen:CN166718,Orphanet:ORPHA98733 na -1 -1 na na 196263 single nucleotide variant NM_005188.3(CBL):c.1320C>T (p.Gly440=) 794727972 MedGen:CN169374 11 119149312 119149312 C T 196263 single nucleotide variant NM_005188.3(CBL):c.1320C>T (p.Gly440=) 794727972 MedGen:CN169374 11 119278602 119278602 C T 207818 insertion NM_005188.3(CBL):c.*559_*560insC 3833768 MedGen:CN169374 11 119300340 119300341 - C 207818 insertion NM_005188.3(CBL):c.*559_*560insC 3833768 MedGen:CN169374 11 119171050 119171051 - C 207819 insertion NM_005188.3(CBL):c.*560_*561insAT 56722042 MedGen:CN169374 11 119300341 119300342 - AT 207819 insertion NM_005188.3(CBL):c.*560_*561insAT 56722042 MedGen:CN169374 11 119171051 119171052 - AT 212918 single nucleotide variant NM_005188.3(CBL):c.243A>G (p.Pro81=) 863224399 MedGen:CN166718,Orphanet:ORPHA98733 11 119103205 119103205 A G 212918 single nucleotide variant NM_005188.3(CBL):c.243A>G (p.Pro81=) 863224399 MedGen:CN166718,Orphanet:ORPHA98733 11 119232495 119232495 A G 212919 single nucleotide variant NM_005188.3(CBL):c.1891A>G (p.Arg631Gly) 552590011 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119156226 119156226 A G 212919 single nucleotide variant NM_005188.3(CBL):c.1891A>G (p.Arg631Gly) 552590011 MedGen:CN166718,Orphanet:ORPHA98733;MedGen:CN169374 11 119285516 119285516 A G 229963 deletion NM_005188.3(CBL):c.1283_1384del102 (p.Pro428_Glu461del) -1 MedGen:CN169374 11 119278565 119278666 na na 229963 deletion NM_005188.3(CBL):c.1283_1384del102 (p.Pro428_Glu461del) -1 MedGen:CN169374 11 119149275 119149376 na na 241061 single nucleotide variant NM_005188.3(CBL):c.195+10C>A 878854755 MedGen:CN166718,Orphanet:ORPHA98733 11 119077332 119077332 C A 241061 single nucleotide variant NM_005188.3(CBL):c.195+10C>A 878854755 MedGen:CN166718,Orphanet:ORPHA98733 11 119206622 119206622 C A 241062 single nucleotide variant NM_005188.3(CBL):c.1511C>T (p.Pro504Leu) 533554769 MedGen:CN166718,Orphanet:ORPHA98733 11 119285048 119285048 C T 241062 single nucleotide variant NM_005188.3(CBL):c.1511C>T (p.Pro504Leu) 533554769 MedGen:CN166718,Orphanet:ORPHA98733 11 119155758 119155758 C T 241063 single nucleotide variant NM_005188.3(CBL):c.2036+9G>T 142704935 MedGen:CN166718,Orphanet:ORPHA98733 11 119158665 119158665 G T 241063 single nucleotide variant NM_005188.3(CBL):c.2036+9G>T 142704935 MedGen:CN166718,Orphanet:ORPHA98733 11 119287955 119287955 G T 241064 single nucleotide variant NM_005188.3(CBL):c.2083G>A (p.Glu695Lys) 143975631 MedGen:CN166718,Orphanet:ORPHA98733 11 119296964 119296964 G A 241064 single nucleotide variant NM_005188.3(CBL):c.2083G>A (p.Glu695Lys) 143975631 MedGen:CN166718,Orphanet:ORPHA98733 11 119167674 119167674 G A 254018 deletion NM_005188.3(CBL):c.748-21_748-20delTG 886038559 MedGen:CN169374 11 119274811 119274812 TG - 254018 deletion NM_005188.3(CBL):c.748-21_748-20delTG 886038559 MedGen:CN169374 11 119145521 119145522 TG - 264461 single nucleotide variant NM_005188.3(CBL):c.1237G>C (p.Gly413Arg) 371679886 MedGen:CN221809 11 119149229 119149229 G C 264461 single nucleotide variant NM_005188.3(CBL):c.1237G>C (p.Gly413Arg) 371679886 MedGen:CN221809 11 119278519 119278519 G C 264468 single nucleotide variant NM_005188.3(CBL):c.1366G>T (p.Asp456Tyr) 886041472 MedGen:CN169374 11 119149358 119149358 G T 264468 single nucleotide variant NM_005188.3(CBL):c.1366G>T (p.Asp456Tyr) 886041472 MedGen:CN169374 11 119278648 119278648 G T 264475 single nucleotide variant NM_005188.3(CBL):c.1384C>T (p.Arg462Ter) 886041425 MedGen:CN169374 11 119149376 119149376 C T 264475 single nucleotide variant NM_005188.3(CBL):c.1384C>T (p.Arg462Ter) 886041425 MedGen:CN169374 11 119278666 119278666 C T 264477 single nucleotide variant NM_005188.3(CBL):c.1516C>G (p.Arg506Gly) 886041500 MedGen:CN169374 11 119155763 119155763 C G 264477 single nucleotide variant NM_005188.3(CBL):c.1516C>G (p.Arg506Gly) 886041500 MedGen:CN169374 11 119285053 119285053 C G 264504 single nucleotide variant NM_005188.3(CBL):c.1351C>G (p.Pro451Ala) 886041313 MedGen:CN169374 11 119149343 119149343 C G 264504 single nucleotide variant NM_005188.3(CBL):c.1351C>G (p.Pro451Ala) 886041313 MedGen:CN169374 11 119278633 119278633 C G 264601 single nucleotide variant NM_005188.3(CBL):c.839G>A (p.Arg280Gln) 145155035 MedGen:CN169374 11 119274923 119274923 G A 264601 single nucleotide variant NM_005188.3(CBL):c.839G>A (p.Arg280Gln) 145155035 MedGen:CN169374 11 119145633 119145633 G A 264603 single nucleotide variant NM_005188.3(CBL):c.1942A>C (p.Ser648Arg) 143264567 MedGen:CN169374 11 119158562 119158562 A C 264603 single nucleotide variant NM_005188.3(CBL):c.1942A>C (p.Ser648Arg) 143264567 MedGen:CN169374 11 119287852 119287852 A C 268638 single nucleotide variant NM_005188.3(CBL):c.2190G>A (p.Thr730=) 143840974 MedGen:CN169374 11 119168130 119168130 G A 268638 single nucleotide variant NM_005188.3(CBL):c.2190G>A (p.Thr730=) 143840974 MedGen:CN169374 11 119297420 119297420 G A 269001 single nucleotide variant NM_005188.3(CBL):c.1651C>T (p.Pro551Ser) 200305176 MedGen:CN169374 11 119155986 119155986 C T 269001 single nucleotide variant NM_005188.3(CBL):c.1651C>T (p.Pro551Ser) 200305176 MedGen:CN169374 11 119285276 119285276 C T 312577 insertion NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG 886047761 MedGen:CN239316 11 119206292 119206293 - TGGCGGCGGCGGCGGCGG 312577 insertion NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG 886047761 MedGen:CN239316 11 119077002 119077003 - TGGCGGCGGCGGCGGCGG 312586 single nucleotide variant NM_005188.3(CBL):c.-122C>T 886047765 MedGen:CN239316 11 119206296 119206296 C T 312586 single nucleotide variant NM_005188.3(CBL):c.-122C>T 886047765 MedGen:CN239316 11 119077006 119077006 C T 312600 duplication NM_005188.3(CBL):c.-103_-95dupGGCGGCGGC 556553625 MedGen:CN239316 11 119206315 119206323 GGCGGCGGC GGCGGCGGCGGCGGCGGC 312600 duplication NM_005188.3(CBL):c.-103_-95dupGGCGGCGGC 556553625 MedGen:CN239316 11 119077025 119077033 GGCGGCGGC GGCGGCGGCGGCGGCGGC 312604 single nucleotide variant NM_005188.3(CBL):c.-79C>T 886047767 MedGen:CN239316 11 119206339 119206339 C T 312604 single nucleotide variant NM_005188.3(CBL):c.-79C>T 886047767 MedGen:CN239316 11 119077049 119077049 C T 312607 single nucleotide variant NM_005188.3(CBL):c.41G>A (p.Gly14Asp) 868791422 MedGen:CN239316 11 119206458 119206458 G A 312607 single nucleotide variant NM_005188.3(CBL):c.41G>A (p.Gly14Asp) 868791422 MedGen:CN239316 11 119077168 119077168 G A 312608 single nucleotide variant NM_005188.3(CBL):c.*39G>A 17848890 MedGen:CN239316 11 119299820 119299820 G A 312608 single nucleotide variant NM_005188.3(CBL):c.*39G>A 17848890 MedGen:CN239316 11 119170530 119170530 G A 312610 single nucleotide variant NM_005188.3(CBL):c.*239A>G 140332874 MedGen:CN239316 11 119170730 119170730 A G 312610 single nucleotide variant NM_005188.3(CBL):c.*239A>G 140332874 MedGen:CN239316 11 119300020 119300020 A G 312611 single nucleotide variant NM_005188.3(CBL):c.*282C>G 886047773 MedGen:CN239316 11 119300063 119300063 C G 312611 single nucleotide variant NM_005188.3(CBL):c.*282C>G 886047773 MedGen:CN239316 11 119170773 119170773 C G 312612 single nucleotide variant NM_005188.3(CBL):c.*513A>G 138124151 MedGen:CN239316 11 119171004 119171004 A G 312612 single nucleotide variant NM_005188.3(CBL):c.*513A>G 138124151 MedGen:CN239316 11 119300294 119300294 A G 312616 single nucleotide variant NM_005188.3(CBL):c.*918T>C 541035764 MedGen:CN239316 11 119300699 119300699 T C 312616 single nucleotide variant NM_005188.3(CBL):c.*918T>C 541035764 MedGen:CN239316 11 119171409 119171409 T C 312618 single nucleotide variant NM_005188.3(CBL):c.*950G>T 886047775 MedGen:CN239316 11 119300731 119300731 G T 312618 single nucleotide variant NM_005188.3(CBL):c.*950G>T 886047775 MedGen:CN239316 11 119171441 119171441 G T 312620 single nucleotide variant NM_005188.3(CBL):c.*986A>C 886047776 MedGen:CN239316 11 119300767 119300767 A C 312620 single nucleotide variant NM_005188.3(CBL):c.*986A>C 886047776 MedGen:CN239316 11 119171477 119171477 A C 312622 deletion NM_005188.3(CBL):c.*1038delT 555529036 MedGen:CN239316 11 119300819 119300819 T - 312622 deletion NM_005188.3(CBL):c.*1038delT 555529036 MedGen:CN239316 11 119171529 119171529 T - 312629 single nucleotide variant NM_005188.3(CBL):c.*1965G>A 886047781 MedGen:CN239316 11 119301746 119301746 G A 312629 single nucleotide variant NM_005188.3(CBL):c.*1965G>A 886047781 MedGen:CN239316 11 119172456 119172456 G A 312630 single nucleotide variant NM_005188.3(CBL):c.*2045A>G 1047417 MedGen:CN239316 11 119301826 119301826 A G 312630 single nucleotide variant NM_005188.3(CBL):c.*2045A>G 1047417 MedGen:CN239316 11 119172536 119172536 A G 312637 single nucleotide variant NM_005188.3(CBL):c.*2176T>C 143211426 MedGen:CN239316 11 119301957 119301957 T C 312637 single nucleotide variant NM_005188.3(CBL):c.*2176T>C 143211426 MedGen:CN239316 11 119172667 119172667 T C 312639 single nucleotide variant NM_005188.3(CBL):c.*2224A>G 550910545 MedGen:CN239316 11 119302005 119302005 A G 312639 single nucleotide variant NM_005188.3(CBL):c.*2224A>G 550910545 MedGen:CN239316 11 119172715 119172715 A G 312650 single nucleotide variant NM_005188.3(CBL):c.*2619C>T 147497664 MedGen:CN239316 11 119302400 119302400 C T 312650 single nucleotide variant NM_005188.3(CBL):c.*2619C>T 147497664 MedGen:CN239316 11 119173110 119173110 C T 312651 deletion NM_005188.3(CBL):c.*3106delT 886047787 MedGen:CN239316 11 119302887 119302887 T - 312651 deletion NM_005188.3(CBL):c.*3106delT 886047787 MedGen:CN239316 11 119173597 119173597 T - 312653 duplication NM_005188.3(CBL):c.*3241dupG 886047788 MedGen:CN239316 11 119303022 119303022 G GG 312653 duplication NM_005188.3(CBL):c.*3241dupG 886047788 MedGen:CN239316 11 119173732 119173732 G GG 312655 single nucleotide variant NM_005188.3(CBL):c.*3336A>G 886047789 MedGen:CN239316 11 119303117 119303117 A G 312655 single nucleotide variant NM_005188.3(CBL):c.*3336A>G 886047789 MedGen:CN239316 11 119173827 119173827 A G 312660 single nucleotide variant NM_005188.3(CBL):c.*4177C>T 886047792 MedGen:CN239316 11 119303958 119303958 C T 312660 single nucleotide variant NM_005188.3(CBL):c.*4177C>T 886047792 MedGen:CN239316 11 119174668 119174668 C T 312663 single nucleotide variant NM_005188.3(CBL):c.*4302C>T 114801312 MedGen:CN239316 11 119174793 119174793 C T 312663 single nucleotide variant NM_005188.3(CBL):c.*4302C>T 114801312 MedGen:CN239316 11 119304083 119304083 C T 312664 single nucleotide variant NM_005188.3(CBL):c.*4818C>T 886047794 MedGen:CN239316 11 119304599 119304599 C T 312664 single nucleotide variant NM_005188.3(CBL):c.*4818C>T 886047794 MedGen:CN239316 11 119175309 119175309 C T 312665 single nucleotide variant NM_005188.3(CBL):c.*4931T>C 2510145 MedGen:CN239316 11 119304712 119304712 T C 312665 single nucleotide variant NM_005188.3(CBL):c.*4931T>C 2510145 MedGen:CN239316 11 119175422 119175422 T C 312672 single nucleotide variant NM_005188.3(CBL):c.*5139C>T 886047799 MedGen:CN239316 11 119304920 119304920 C T 312672 single nucleotide variant NM_005188.3(CBL):c.*5139C>T 886047799 MedGen:CN239316 11 119175630 119175630 C T 312681 single nucleotide variant NM_005188.3(CBL):c.*5717T>G 547307186 MedGen:CN239316 11 119305498 119305498 T G 312681 single nucleotide variant NM_005188.3(CBL):c.*5717T>G 547307186 MedGen:CN239316 11 119176208 119176208 T G 312685 single nucleotide variant NM_005188.3(CBL):c.*5718C>A 572014227 MedGen:CN239316 11 119305499 119305499 C A 312685 single nucleotide variant NM_005188.3(CBL):c.*5718C>A 572014227 MedGen:CN239316 11 119176209 119176209 C A 312687 single nucleotide variant NM_005188.3(CBL):c.*5771T>A 886047800 MedGen:CN239316 11 119305552 119305552 T A 312687 single nucleotide variant NM_005188.3(CBL):c.*5771T>A 886047800 MedGen:CN239316 11 119176262 119176262 T A 312688 single nucleotide variant NM_005188.3(CBL):c.*5907T>C 2511844 MedGen:CN239316 11 119305688 119305688 T C 312688 single nucleotide variant NM_005188.3(CBL):c.*5907T>C 2511844 MedGen:CN239316 11 119176398 119176398 T C 312696 single nucleotide variant NM_005188.3(CBL):c.*5986T>C 764329156 MedGen:CN239316 11 119305767 119305767 T C 312696 single nucleotide variant NM_005188.3(CBL):c.*5986T>C 764329156 MedGen:CN239316 11 119176477 119176477 T C 312697 single nucleotide variant NM_005188.3(CBL):c.*6175A>G 775450592 MedGen:CN239316 11 119176666 119176666 A G 312697 single nucleotide variant NM_005188.3(CBL):c.*6175A>G 775450592 MedGen:CN239316 11 119305956 119305956 A G 312698 single nucleotide variant NM_005188.3(CBL):c.*6430G>C 886047806 MedGen:CN239316 11 119306211 119306211 G C 312698 single nucleotide variant NM_005188.3(CBL):c.*6430G>C 886047806 MedGen:CN239316 11 119176921 119176921 G C 312705 single nucleotide variant NM_005188.3(CBL):c.*6732C>A 140028176 MedGen:CN239316 11 119177223 119177223 C A 312705 single nucleotide variant NM_005188.3(CBL):c.*6732C>A 140028176 MedGen:CN239316 11 119306513 119306513 C A 312719 single nucleotide variant NM_005188.3(CBL):c.*7081T>G 886047809 MedGen:CN239316 11 119306862 119306862 T G 312719 single nucleotide variant NM_005188.3(CBL):c.*7081T>G 886047809 MedGen:CN239316 11 119177572 119177572 T G 312728 single nucleotide variant NM_005188.3(CBL):c.*7143A>C 146650854 MedGen:CN239316 11 119306924 119306924 A C 312728 single nucleotide variant NM_005188.3(CBL):c.*7143A>C 146650854 MedGen:CN239316 11 119177634 119177634 A C 312732 single nucleotide variant NM_005188.3(CBL):c.*7314T>C 144022588 MedGen:CN239316 11 119307095 119307095 T C 312732 single nucleotide variant NM_005188.3(CBL):c.*7314T>C 144022588 MedGen:CN239316 11 119177805 119177805 T C 312733 single nucleotide variant NM_005188.3(CBL):c.*7366C>T 534426893 MedGen:CN239316 11 119307147 119307147 C T 312733 single nucleotide variant NM_005188.3(CBL):c.*7366C>T 534426893 MedGen:CN239316 11 119177857 119177857 C T 312734 single nucleotide variant NM_005188.3(CBL):c.*7904G>A 886047813 MedGen:CN239316 11 119307685 119307685 G A 312734 single nucleotide variant NM_005188.3(CBL):c.*7904G>A 886047813 MedGen:CN239316 11 119178395 119178395 G A 312738 single nucleotide variant NM_005188.3(CBL):c.*7949C>A 142183037 MedGen:CN239316 11 119178440 119178440 C A 312738 single nucleotide variant NM_005188.3(CBL):c.*7949C>A 142183037 MedGen:CN239316 11 119307730 119307730 C A 312740 single nucleotide variant NM_005188.3(CBL):c.*7978A>G 2511836 MedGen:CN239316 11 119307759 119307759 A G 312740 single nucleotide variant NM_005188.3(CBL):c.*7978A>G 2511836 MedGen:CN239316 11 119178469 119178469 A G 312741 single nucleotide variant NM_005188.3(CBL):c.*8012T>C 573686690 MedGen:CN239316 11 119307793 119307793 T C 312741 single nucleotide variant NM_005188.3(CBL):c.*8012T>C 573686690 MedGen:CN239316 11 119178503 119178503 T C 312742 single nucleotide variant NM_005188.3(CBL):c.*8048G>A 151221935 MedGen:CN239316 11 119307829 119307829 G A 312742 single nucleotide variant NM_005188.3(CBL):c.*8048G>A 151221935 MedGen:CN239316 11 119178539 119178539 G A 312749 deletion NM_005188.3(CBL):c.*8164_*8167delCAGA 886047814 MedGen:CN239316 11 119307945 119307948 CAGA - 312749 deletion NM_005188.3(CBL):c.*8164_*8167delCAGA 886047814 MedGen:CN239316 11 119178655 119178658 CAGA - 318564 insertion NM_005188.3(CBL):c.-126_-125insTGGCGG 886047761 MedGen:CN239316 11 119206292 119206293 - TGGCGG 318564 insertion NM_005188.3(CBL):c.-126_-125insTGGCGG 886047761 MedGen:CN239316 11 119077002 119077003 - TGGCGG 318571 single nucleotide variant NM_005188.3(CBL):c.-125C>T 7108857 MedGen:CN239316 11 119206293 119206293 C T 318571 single nucleotide variant NM_005188.3(CBL):c.-125C>T 7108857 MedGen:CN239316 11 119077003 119077003 C T 318577 single nucleotide variant NM_005188.3(CBL):c.-106G>A 569014495 MedGen:CN239316 11 119206312 119206312 G A 318577 single nucleotide variant NM_005188.3(CBL):c.-106G>A 569014495 MedGen:CN239316 11 119077022 119077022 G A 318579 duplication NM_005188.3(CBL):c.-106_-95dupGGCGGCGGCGGC 556553625 MedGen:CN239316 11 119206312 119206323 GGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGC 318579 duplication NM_005188.3(CBL):c.-106_-95dupGGCGGCGGCGGC 556553625 MedGen:CN239316 11 119077022 119077033 GGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGC 318580 deletion NM_005188.3(CBL):c.-103_-95delGGCGGCGGC 886047762 MedGen:CN239316 11 119206315 119206323 GGCGGCGGC - 318580 deletion NM_005188.3(CBL):c.-103_-95delGGCGGCGGC 886047762 MedGen:CN239316 11 119077025 119077033 GGCGGCGGC - 318581 duplication NM_005188.3(CBL):c.-100_-95dupGGCGGC 556553625 MedGen:CN239316 11 119206318 119206323 GGCGGC GGCGGCGGCGGC 318581 duplication NM_005188.3(CBL):c.-100_-95dupGGCGGC 556553625 MedGen:CN239316 11 119077028 119077033 GGCGGC GGCGGCGGCGGC 318588 single nucleotide variant NM_005188.3(CBL):c.-41C>T 751528430 MedGen:CN239316 11 119206377 119206377 C T 318588 single nucleotide variant NM_005188.3(CBL):c.-41C>T 751528430 MedGen:CN239316 11 119077087 119077087 C T 318589 single nucleotide variant NM_005188.3(CBL):c.1094A>G (p.Gln365Arg) 756742202 MedGen:CN239316 11 119277843 119277843 A G 318589 single nucleotide variant NM_005188.3(CBL):c.1094A>G (p.Gln365Arg) 756742202 MedGen:CN239316 11 119148553 119148553 A G 318593 single nucleotide variant NM_005188.3(CBL):c.2096A>G (p.Glu699Gly) 866325598 MedGen:CN239316 11 119296977 119296977 A G 318593 single nucleotide variant NM_005188.3(CBL):c.2096A>G (p.Glu699Gly) 866325598 MedGen:CN239316 11 119167687 119167687 A G 318594 insertion NM_005188.3(CBL):c.*559_*560insCAA 3833768 MedGen:CN239316 11 119300340 119300341 - CAA 318594 insertion NM_005188.3(CBL):c.*559_*560insCAA 3833768 MedGen:CN239316 11 119171050 119171051 - CAA 318644 single nucleotide variant NM_005188.3(CBL):c.*3854G>A 115544781 MedGen:CN239316 11 119303635 119303635 G A 318601 single nucleotide variant NM_005188.3(CBL):c.*1686A>C 147266033 MedGen:CN239316 11 119301467 119301467 A C 318601 single nucleotide variant NM_005188.3(CBL):c.*1686A>C 147266033 MedGen:CN239316 11 119172177 119172177 A C 318603 single nucleotide variant NM_005188.3(CBL):c.*1884C>T 772494648 MedGen:CN239316 11 119301665 119301665 C T 318603 single nucleotide variant NM_005188.3(CBL):c.*1884C>T 772494648 MedGen:CN239316 11 119172375 119172375 C T 318644 single nucleotide variant NM_005188.3(CBL):c.*3854G>A 115544781 MedGen:CN239316 11 119174345 119174345 G A 318608 single nucleotide variant NM_005188.3(CBL):c.*2697C>T 118116976 MedGen:CN239316 11 119302478 119302478 C T 318608 single nucleotide variant NM_005188.3(CBL):c.*2697C>T 118116976 MedGen:CN239316 11 119173188 119173188 C T 318609 single nucleotide variant NM_005188.3(CBL):c.*3154C>T 112984401 MedGen:CN239316 11 119302935 119302935 C T 318609 single nucleotide variant NM_005188.3(CBL):c.*3154C>T 112984401 MedGen:CN239316 11 119173645 119173645 C T 318625 single nucleotide variant NM_005188.3(CBL):c.*3656C>T 145348523 MedGen:CN239316 11 119174147 119174147 C T 318625 single nucleotide variant NM_005188.3(CBL):c.*3656C>T 145348523 MedGen:CN239316 11 119303437 119303437 C T 318626 single nucleotide variant NM_005188.3(CBL):c.*3714C>T 886047790 MedGen:CN239316 11 119303495 119303495 C T 318626 single nucleotide variant NM_005188.3(CBL):c.*3714C>T 886047790 MedGen:CN239316 11 119174205 119174205 C T 318648 single nucleotide variant NM_005188.3(CBL):c.*4038A>G 754325180 MedGen:CN239316 11 119303819 119303819 A G 318648 single nucleotide variant NM_005188.3(CBL):c.*4038A>G 754325180 MedGen:CN239316 11 119174529 119174529 A G 318664 single nucleotide variant NM_005188.3(CBL):c.*4088C>T 140837295 MedGen:CN239316 11 119303869 119303869 C T 318664 single nucleotide variant NM_005188.3(CBL):c.*4088C>T 140837295 MedGen:CN239316 11 119174579 119174579 C T 318686 single nucleotide variant NM_005188.3(CBL):c.*4140G>A 886047791 MedGen:CN239316 11 119303921 119303921 G A 318686 single nucleotide variant NM_005188.3(CBL):c.*4140G>A 886047791 MedGen:CN239316 11 119174631 119174631 G A 318688 single nucleotide variant NM_005188.3(CBL):c.*4390C>G 886047793 MedGen:CN239316 11 119304171 119304171 C G 318688 single nucleotide variant NM_005188.3(CBL):c.*4390C>G 886047793 MedGen:CN239316 11 119174881 119174881 C G 318699 single nucleotide variant NM_005188.3(CBL):c.*4584C>A 2509671 MedGen:CN239316 11 119304365 119304365 C A 318699 single nucleotide variant NM_005188.3(CBL):c.*4584C>A 2509671 MedGen:CN239316 11 119175075 119175075 C A 318704 duplication NM_005188.3(CBL):c.*4863dupT 886047795 MedGen:CN239316 11 119304644 119304644 T TT 318704 duplication NM_005188.3(CBL):c.*4863dupT 886047795 MedGen:CN239316 11 119175354 119175354 T TT 318705 single nucleotide variant NM_005188.3(CBL):c.*5093C>G 757662885 MedGen:CN239316 11 119304874 119304874 C G 318705 single nucleotide variant NM_005188.3(CBL):c.*5093C>G 757662885 MedGen:CN239316 11 119175584 119175584 C G 318706 single nucleotide variant NM_005188.3(CBL):c.*5123C>T 149560809 MedGen:CN239316 11 119304904 119304904 C T 318706 single nucleotide variant NM_005188.3(CBL):c.*5123C>T 149560809 MedGen:CN239316 11 119175614 119175614 C T 318711 single nucleotide variant NM_005188.3(CBL):c.*5756G>A 542978255 MedGen:CN239316 11 119305537 119305537 G A 318711 single nucleotide variant NM_005188.3(CBL):c.*5756G>A 542978255 MedGen:CN239316 11 119176247 119176247 G A 318712 single nucleotide variant NM_005188.3(CBL):c.*5811C>T 569624112 MedGen:CN239316 11 119305592 119305592 C T 318712 single nucleotide variant NM_005188.3(CBL):c.*5811C>T 569624112 MedGen:CN239316 11 119176302 119176302 C T 318713 single nucleotide variant NM_005188.3(CBL):c.*5860T>C 886047801 MedGen:CN239316 11 119305641 119305641 T C 318713 single nucleotide variant NM_005188.3(CBL):c.*5860T>C 886047801 MedGen:CN239316 11 119176351 119176351 T C 318718 single nucleotide variant NM_005188.3(CBL):c.*5987A>T 150688966 MedGen:CN239316 11 119305768 119305768 A T 318718 single nucleotide variant NM_005188.3(CBL):c.*5987A>T 150688966 MedGen:CN239316 11 119176478 119176478 A T 318722 single nucleotide variant NM_005188.3(CBL):c.*6008T>C 3829261 MedGen:CN239316 11 119305789 119305789 T C 318722 single nucleotide variant NM_005188.3(CBL):c.*6008T>C 3829261 MedGen:CN239316 11 119176499 119176499 T C 318724 single nucleotide variant NM_005188.3(CBL):c.*6265C>A 886047804 MedGen:CN239316 11 119176756 119176756 C A 318724 single nucleotide variant NM_005188.3(CBL):c.*6265C>A 886047804 MedGen:CN239316 11 119306046 119306046 C A 318726 single nucleotide variant NM_005188.3(CBL):c.*6648T>G 544221090 MedGen:CN239316 11 119306429 119306429 T G 318726 single nucleotide variant NM_005188.3(CBL):c.*6648T>G 544221090 MedGen:CN239316 11 119177139 119177139 T G 318729 single nucleotide variant NM_005188.3(CBL):c.*6703T>C 562568416 MedGen:CN239316 11 119306484 119306484 T C 318729 single nucleotide variant NM_005188.3(CBL):c.*6703T>C 562568416 MedGen:CN239316 11 119177194 119177194 T C 318734 single nucleotide variant NM_005188.3(CBL):c.*7447A>G 11217234 MedGen:CN239316 11 119307228 119307228 A G 318734 single nucleotide variant NM_005188.3(CBL):c.*7447A>G 11217234 MedGen:CN239316 11 119177938 119177938 A G 318735 single nucleotide variant NM_005188.3(CBL):c.*7659C>A 567049953 MedGen:CN239316 11 119307440 119307440 C A 318735 single nucleotide variant NM_005188.3(CBL):c.*7659C>A 567049953 MedGen:CN239316 11 119178150 119178150 C A 318739 single nucleotide variant NM_005188.3(CBL):c.*8149A>G 11243 MedGen:CN239316 11 119307930 119307930 A G 318739 single nucleotide variant NM_005188.3(CBL):c.*8149A>G 11243 MedGen:CN239316 11 119178640 119178640 A G 324719 insertion NM_005188.3(CBL):c.-126_-125insTGG 886047761 MedGen:CN239316 11 119206292 119206293 - TGG 324719 insertion NM_005188.3(CBL):c.-126_-125insTGG 886047761 MedGen:CN239316 11 119077002 119077003 - TGG 324722 single nucleotide variant NM_005188.3(CBL):c.-124G>T 886047764 MedGen:CN239316 11 119206294 119206294 G T 324722 single nucleotide variant NM_005188.3(CBL):c.-124G>T 886047764 MedGen:CN239316 11 119077004 119077004 G T 324725 duplication NM_005188.3(CBL):c.-97_-95dupGGC 556553625 MedGen:CN239316 11 119206321 119206323 GGC GGCGGC 324725 duplication NM_005188.3(CBL):c.-97_-95dupGGC 556553625 MedGen:CN239316 11 119077031 119077033 GGC GGCGGC 324734 single nucleotide variant NM_005188.3(CBL):c.-96G>A 548262208 MedGen:CN239316 11 119206322 119206322 G A 324734 single nucleotide variant NM_005188.3(CBL):c.-96G>A 548262208 MedGen:CN239316 11 119077032 119077032 G A 324736 single nucleotide variant NM_005188.3(CBL):c.1227+10T>C 886047768 MedGen:CN239316 11 119278307 119278307 T C 324736 single nucleotide variant NM_005188.3(CBL):c.1227+10T>C 886047768 MedGen:CN239316 11 119149017 119149017 T C 324737 single nucleotide variant NM_005188.3(CBL):c.1528C>G (p.Pro510Ala) 538054260 MedGen:CN239316 11 119285065 119285065 C G 324737 single nucleotide variant NM_005188.3(CBL):c.1528C>G (p.Pro510Ala) 538054260 MedGen:CN239316 11 119155775 119155775 C G 324739 single nucleotide variant NM_005188.3(CBL):c.1967G>A (p.Gly656Asp) 886047770 MedGen:CN239316 11 119158587 119158587 G A 324739 single nucleotide variant NM_005188.3(CBL):c.1967G>A (p.Gly656Asp) 886047770 MedGen:CN239316 11 119287877 119287877 G A 324740 duplication NM_005188.3(CBL):c.2414_2416dupTGG (p.Leu805_Asp806insVal) 886047772 MedGen:CN239316 11 119298520 119298522 TGG TGGTGG 324740 duplication NM_005188.3(CBL):c.2414_2416dupTGG (p.Leu805_Asp806insVal) 886047772 MedGen:CN239316 11 119169230 119169232 TGG TGGTGG 324752 insertion NM_005188.3(CBL):c.*365_*366insGG 397958007 MedGen:CN239316 11 119300146 119300147 - GG 324752 insertion NM_005188.3(CBL):c.*365_*366insGG 397958007 MedGen:CN239316 11 119170856 119170857 - GG 324753 single nucleotide variant NM_005188.3(CBL):c.*1447A>G 148077385 MedGen:CN239316 11 119301228 119301228 A G 324753 single nucleotide variant NM_005188.3(CBL):c.*1447A>G 148077385 MedGen:CN239316 11 119171938 119171938 A G 324763 single nucleotide variant NM_005188.3(CBL):c.*1594T>A 193152909 MedGen:CN239316 11 119301375 119301375 T A 324763 single nucleotide variant NM_005188.3(CBL):c.*1594T>A 193152909 MedGen:CN239316 11 119172085 119172085 T A 324766 single nucleotide variant NM_005188.3(CBL):c.*1661G>T 886047778 MedGen:CN239316 11 119301442 119301442 G T 324766 single nucleotide variant NM_005188.3(CBL):c.*1661G>T 886047778 MedGen:CN239316 11 119172152 119172152 G T 324767 deletion NM_005188.3(CBL):c.*1732delC 886047780 MedGen:CN239316 11 119301513 119301513 C - 324767 deletion NM_005188.3(CBL):c.*1732delC 886047780 MedGen:CN239316 11 119172223 119172223 C - 324771 single nucleotide variant NM_005188.3(CBL):c.*1733T>G 190569484 MedGen:CN239316 11 119301514 119301514 T G 324771 single nucleotide variant NM_005188.3(CBL):c.*1733T>G 190569484 MedGen:CN239316 11 119172224 119172224 T G 324782 single nucleotide variant NM_005188.3(CBL):c.*1915T>C 1918 MedGen:CN239316 11 119301696 119301696 T C 324782 single nucleotide variant NM_005188.3(CBL):c.*1915T>C 1918 MedGen:CN239316 11 119172406 119172406 T C 324784 single nucleotide variant NM_005188.3(CBL):c.*1918C>T 528450894 MedGen:CN239316 11 119301699 119301699 C T 324784 single nucleotide variant NM_005188.3(CBL):c.*1918C>T 528450894 MedGen:CN239316 11 119172409 119172409 C T 324786 single nucleotide variant NM_005188.3(CBL):c.*2423C>T 117804312 MedGen:CN239316 11 119302204 119302204 C T 324786 single nucleotide variant NM_005188.3(CBL):c.*2423C>T 117804312 MedGen:CN239316 11 119172914 119172914 C T 324789 single nucleotide variant NM_005188.3(CBL):c.*2554G>C 886047784 MedGen:CN239316 11 119302335 119302335 G C 324789 single nucleotide variant NM_005188.3(CBL):c.*2554G>C 886047784 MedGen:CN239316 11 119173045 119173045 G C 324790 single nucleotide variant NM_005188.3(CBL):c.*3026C>T 886047786 MedGen:CN239316 11 119302807 119302807 C T 324790 single nucleotide variant NM_005188.3(CBL):c.*3026C>T 886047786 MedGen:CN239316 11 119173517 119173517 C T 324794 single nucleotide variant NM_005188.3(CBL):c.*3437C>T 774175986 MedGen:CN239316 11 119303218 119303218 C T 324794 single nucleotide variant NM_005188.3(CBL):c.*3437C>T 774175986 MedGen:CN239316 11 119173928 119173928 C T 324795 single nucleotide variant NM_005188.3(CBL):c.*3578A>T 140313356 MedGen:CN239316 11 119303359 119303359 A T 324795 single nucleotide variant NM_005188.3(CBL):c.*3578A>T 140313356 MedGen:CN239316 11 119174069 119174069 A T 324800 single nucleotide variant NM_005188.3(CBL):c.*4118A>G 192175025 MedGen:CN239316 11 119303899 119303899 A G 324800 single nucleotide variant NM_005188.3(CBL):c.*4118A>G 192175025 MedGen:CN239316 11 119174609 119174609 A G 324801 single nucleotide variant NM_005188.3(CBL):c.*4227C>T 750704582 MedGen:CN239316 11 119304008 119304008 C T 324801 single nucleotide variant NM_005188.3(CBL):c.*4227C>T 750704582 MedGen:CN239316 11 119174718 119174718 C T 324805 single nucleotide variant NM_005188.3(CBL):c.*5008C>G 548349917 MedGen:CN239316 11 119304789 119304789 C G 324805 single nucleotide variant NM_005188.3(CBL):c.*5008C>G 548349917 MedGen:CN239316 11 119175499 119175499 C G 324806 single nucleotide variant NM_005188.3(CBL):c.*5134G>A 886047798 MedGen:CN239316 11 119304915 119304915 G A 324806 single nucleotide variant NM_005188.3(CBL):c.*5134G>A 886047798 MedGen:CN239316 11 119175625 119175625 G A 324808 single nucleotide variant NM_005188.3(CBL):c.*5648T>C 79889393 MedGen:CN239316 11 119305429 119305429 T C 324808 single nucleotide variant NM_005188.3(CBL):c.*5648T>C 79889393 MedGen:CN239316 11 119176139 119176139 T C 324809 deletion NM_005188.3(CBL):c.*5986delT 886047802 MedGen:CN239316 11 119305767 119305767 T - 324809 deletion NM_005188.3(CBL):c.*5986delT 886047802 MedGen:CN239316 11 119176477 119176477 T - 324816 single nucleotide variant NM_005188.3(CBL):c.*6542T>G 550863116 MedGen:CN239316 11 119306323 119306323 T G 324816 single nucleotide variant NM_005188.3(CBL):c.*6542T>G 550863116 MedGen:CN239316 11 119177033 119177033 T G 324817 single nucleotide variant NM_005188.3(CBL):c.*6767C>G 539341635 MedGen:CN239316 11 119306548 119306548 C G 324817 single nucleotide variant NM_005188.3(CBL):c.*6767C>G 539341635 MedGen:CN239316 11 119177258 119177258 C G 324822 single nucleotide variant NM_005188.3(CBL):c.*6980T>C 886047808 MedGen:CN239316 11 119306761 119306761 T C 324822 single nucleotide variant NM_005188.3(CBL):c.*6980T>C 886047808 MedGen:CN239316 11 119177471 119177471 T C 324824 single nucleotide variant NM_005188.3(CBL):c.*7167A>C 886047812 MedGen:CN239316 11 119306948 119306948 A C 324824 single nucleotide variant NM_005188.3(CBL):c.*7167A>C 886047812 MedGen:CN239316 11 119177658 119177658 A C 324825 deletion NM_005188.3(CBL):c.*7173delA 886047810 MedGen:CN239316 11 119306954 119306954 A - 324825 deletion NM_005188.3(CBL):c.*7173delA 886047810 MedGen:CN239316 11 119177664 119177664 A - 324826 single nucleotide variant NM_005188.3(CBL):c.*7559C>G 1052121 MedGen:CN239316 11 119307340 119307340 C G 324826 single nucleotide variant NM_005188.3(CBL):c.*7559C>G 1052121 MedGen:CN239316 11 119178050 119178050 C G 324828 single nucleotide variant NM_005188.3(CBL):c.*7659C>G 567049953 MedGen:CN239316 11 119307440 119307440 C G 324828 single nucleotide variant NM_005188.3(CBL):c.*7659C>G 567049953 MedGen:CN239316 11 119178150 119178150 C G 324830 single nucleotide variant NM_005188.3(CBL):c.*7903G>A 201889676 MedGen:CN239316 11 119178394 119178394 G A 324830 single nucleotide variant NM_005188.3(CBL):c.*7903G>A 201889676 MedGen:CN239316 11 119307684 119307684 G A 324831 single nucleotide variant NM_005188.3(CBL):c.*8017G>A 533150203 MedGen:CN239316 11 119307798 119307798 G A 324831 single nucleotide variant NM_005188.3(CBL):c.*8017G>A 533150203 MedGen:CN239316 11 119178508 119178508 G A 325443 indel NM_005188.3(CBL):c.-125_-116delCGGCGGCGGCinsT 886047763 MedGen:CN239316 11 119206293 119206302 CGGCGGCGGC T 325443 indel NM_005188.3(CBL):c.-125_-116delCGGCGGCGGCinsT 886047763 MedGen:CN239316 11 119077003 119077012 CGGCGGCGGC T 325444 single nucleotide variant NM_005188.3(CBL):c.-113C>T 886047766 MedGen:CN239316 11 119206305 119206305 C T 325444 single nucleotide variant NM_005188.3(CBL):c.-113C>T 886047766 MedGen:CN239316 11 119077015 119077015 C T 325446 single nucleotide variant NM_005188.3(CBL):c.625C>G (p.Leu209Val) 767162260 MedGen:CN239316 11 119273902 119273902 C G 325446 single nucleotide variant NM_005188.3(CBL):c.625C>G (p.Leu209Val) 767162260 MedGen:CN239316 11 119144612 119144612 C G 325448 single nucleotide variant NM_005188.3(CBL):c.852C>T (p.Phe284=) 745855639 MedGen:CN239316 11 119274936 119274936 C T 325448 single nucleotide variant NM_005188.3(CBL):c.852C>T (p.Phe284=) 745855639 MedGen:CN239316 11 119145646 119145646 C T 325467 single nucleotide variant NM_005188.3(CBL):c.1360A>G (p.Asn454Asp) 371850672 MedGen:CN239316 11 119278642 119278642 A G 325467 single nucleotide variant NM_005188.3(CBL):c.1360A>G (p.Asn454Asp) 371850672 MedGen:CN239316 11 119149352 119149352 A G 325477 single nucleotide variant NM_005188.3(CBL):c.1629A>G (p.Pro543=) 558577411 MedGen:CN239316 11 119285254 119285254 A G 325477 single nucleotide variant NM_005188.3(CBL):c.1629A>G (p.Pro543=) 558577411 MedGen:CN239316 11 119155964 119155964 A G 325479 single nucleotide variant NM_005188.3(CBL):c.1776C>T (p.Pro592=) 886047769 MedGen:CN239316 11 119285401 119285401 C T 325479 single nucleotide variant NM_005188.3(CBL):c.1776C>T (p.Pro592=) 886047769 MedGen:CN239316 11 119156111 119156111 C T 325481 single nucleotide variant NM_005188.3(CBL):c.2052A>C (p.Pro684=) 886047771 MedGen:CN239316 11 119296933 119296933 A C 325481 single nucleotide variant NM_005188.3(CBL):c.2052A>C (p.Pro684=) 886047771 MedGen:CN239316 11 119167643 119167643 A C 325482 single nucleotide variant NM_005188.3(CBL):c.2569C>T (p.Leu857Phe) 201631570 MedGen:CN239316 11 119299629 119299629 C T 325482 single nucleotide variant NM_005188.3(CBL):c.2569C>T (p.Leu857Phe) 201631570 MedGen:CN239316 11 119170339 119170339 C T 325483 single nucleotide variant NM_005188.3(CBL):c.*567G>A 573261482 MedGen:CN239316 11 119300348 119300348 G A 325483 single nucleotide variant NM_005188.3(CBL):c.*567G>A 573261482 MedGen:CN239316 11 119171058 119171058 G A 325490 single nucleotide variant NM_005188.3(CBL):c.*615C>T 769151797 MedGen:CN239316 11 119300396 119300396 C T 325490 single nucleotide variant NM_005188.3(CBL):c.*615C>T 769151797 MedGen:CN239316 11 119171106 119171106 C T 325508 single nucleotide variant NM_005188.3(CBL):c.*932A>G 886047774 MedGen:CN239316 11 119171423 119171423 A G 325508 single nucleotide variant NM_005188.3(CBL):c.*932A>G 886047774 MedGen:CN239316 11 119300713 119300713 A G 325515 single nucleotide variant NM_005188.3(CBL):c.*1158A>G 560822342 MedGen:CN239316 11 119300939 119300939 A G 325515 single nucleotide variant NM_005188.3(CBL):c.*1158A>G 560822342 MedGen:CN239316 11 119171649 119171649 A G 325527 single nucleotide variant NM_005188.3(CBL):c.*1258G>A 886047777 MedGen:CN239316 11 119301039 119301039 G A 325527 single nucleotide variant NM_005188.3(CBL):c.*1258G>A 886047777 MedGen:CN239316 11 119171749 119171749 G A 325533 single nucleotide variant NM_005188.3(CBL):c.*1487A>G 780157945 MedGen:CN239316 11 119301268 119301268 A G 325533 single nucleotide variant NM_005188.3(CBL):c.*1487A>G 780157945 MedGen:CN239316 11 119171978 119171978 A G 325535 single nucleotide variant NM_005188.3(CBL):c.*1711T>C 886047779 MedGen:CN239316 11 119301492 119301492 T C 325535 single nucleotide variant NM_005188.3(CBL):c.*1711T>C 886047779 MedGen:CN239316 11 119172202 119172202 T C 325542 single nucleotide variant NM_005188.3(CBL):c.*1856T>C 75631490 MedGen:CN239316 11 119301637 119301637 T C 325542 single nucleotide variant NM_005188.3(CBL):c.*1856T>C 75631490 MedGen:CN239316 11 119172347 119172347 T C 325546 single nucleotide variant NM_005188.3(CBL):c.*1933C>T 529781104 MedGen:CN239316 11 119301714 119301714 C T 325546 single nucleotide variant NM_005188.3(CBL):c.*1933C>T 529781104 MedGen:CN239316 11 119172424 119172424 C T 325564 single nucleotide variant NM_005188.3(CBL):c.*2137C>T 886047783 MedGen:CN239316 11 119301918 119301918 C T 325552 duplication NM_005188.3(CBL):c.*2129dupA 886047782 MedGen:CN239316 11 119301910 119301910 A AA 325552 duplication NM_005188.3(CBL):c.*2129dupA 886047782 MedGen:CN239316 11 119172620 119172620 A AA 325564 single nucleotide variant NM_005188.3(CBL):c.*2137C>T 886047783 MedGen:CN239316 11 119172628 119172628 C T 325565 duplication NM_005188.3(CBL):c.*2762dupA 886047785 MedGen:CN239316 11 119302543 119302543 A AA 325565 duplication NM_005188.3(CBL):c.*2762dupA 886047785 MedGen:CN239316 11 119173253 119173253 A AA 325571 single nucleotide variant NM_005188.3(CBL):c.*3096C>G 150053029 MedGen:CN239316 11 119302877 119302877 C G 325571 single nucleotide variant NM_005188.3(CBL):c.*3096C>G 150053029 MedGen:CN239316 11 119173587 119173587 C G 325572 single nucleotide variant NM_005188.3(CBL):c.*3167G>A 145419944 MedGen:CN239316 11 119302948 119302948 G A 325572 single nucleotide variant NM_005188.3(CBL):c.*3167G>A 145419944 MedGen:CN239316 11 119173658 119173658 G A 325573 single nucleotide variant NM_005188.3(CBL):c.*3272T>C 148606028 MedGen:CN239316 11 119303053 119303053 T C 325573 single nucleotide variant NM_005188.3(CBL):c.*3272T>C 148606028 MedGen:CN239316 11 119173763 119173763 T C 325583 single nucleotide variant NM_005188.3(CBL):c.*4868T>C 150159135 MedGen:CN239316 11 119175359 119175359 T C 325575 single nucleotide variant NM_005188.3(CBL):c.*4029C>T 563585627 MedGen:CN239316 11 119303810 119303810 C T 325575 single nucleotide variant NM_005188.3(CBL):c.*4029C>T 563585627 MedGen:CN239316 11 119174520 119174520 C T 325576 single nucleotide variant NM_005188.3(CBL):c.*4031C>G 117973382 MedGen:CN239316 11 119303812 119303812 C G 325576 single nucleotide variant NM_005188.3(CBL):c.*4031C>G 117973382 MedGen:CN239316 11 119174522 119174522 C G 325577 single nucleotide variant NM_005188.3(CBL):c.*4085C>G 11604328 MedGen:CN239316 11 119303866 119303866 C G 325577 single nucleotide variant NM_005188.3(CBL):c.*4085C>G 11604328 MedGen:CN239316 11 119174576 119174576 C G 325581 single nucleotide variant NM_005188.3(CBL):c.*4849A>C 886047796 MedGen:CN239316 11 119304630 119304630 A C 325581 single nucleotide variant NM_005188.3(CBL):c.*4849A>C 886047796 MedGen:CN239316 11 119175340 119175340 A C 325583 single nucleotide variant NM_005188.3(CBL):c.*4868T>C 150159135 MedGen:CN239316 11 119304649 119304649 T C 325586 single nucleotide variant NM_005188.3(CBL):c.*4877G>A 532404515 MedGen:CN239316 11 119304658 119304658 G A 325586 single nucleotide variant NM_005188.3(CBL):c.*4877G>A 532404515 MedGen:CN239316 11 119175368 119175368 G A 325600 single nucleotide variant NM_005188.3(CBL):c.*4959C>T 886047797 MedGen:CN239316 11 119304740 119304740 C T 325600 single nucleotide variant NM_005188.3(CBL):c.*4959C>T 886047797 MedGen:CN239316 11 119175450 119175450 C T 325614 single nucleotide variant NM_005188.3(CBL):c.*5183C>T 376394251 MedGen:CN239316 11 119304964 119304964 C T 325614 single nucleotide variant NM_005188.3(CBL):c.*5183C>T 376394251 MedGen:CN239316 11 119175674 119175674 C T 325619 single nucleotide variant NM_005188.3(CBL):c.*5632C>T 143069410 MedGen:CN239316 11 119305413 119305413 C T 325619 single nucleotide variant NM_005188.3(CBL):c.*5632C>T 143069410 MedGen:CN239316 11 119176123 119176123 C T 325656 single nucleotide variant NM_005188.3(CBL):c.*6362G>A 886047805 MedGen:CN239316 11 119176853 119176853 G A 325630 single nucleotide variant NM_005188.3(CBL):c.*5885A>G 148553071 MedGen:CN239316 11 119305666 119305666 A G 325630 single nucleotide variant NM_005188.3(CBL):c.*5885A>G 148553071 MedGen:CN239316 11 119176376 119176376 A G 325637 single nucleotide variant NM_005188.3(CBL):c.*6099A>G 575606651 MedGen:CN239316 11 119305880 119305880 A G 325637 single nucleotide variant NM_005188.3(CBL):c.*6099A>G 575606651 MedGen:CN239316 11 119176590 119176590 A G 325655 single nucleotide variant NM_005188.3(CBL):c.*6126T>A 886047803 MedGen:CN239316 11 119176617 119176617 T A 325655 single nucleotide variant NM_005188.3(CBL):c.*6126T>A 886047803 MedGen:CN239316 11 119305907 119305907 T A 325656 single nucleotide variant NM_005188.3(CBL):c.*6362G>A 886047805 MedGen:CN239316 11 119306143 119306143 G A 325659 single nucleotide variant NM_005188.3(CBL):c.*6575G>C 569180524 MedGen:CN239316 11 119177066 119177066 G C 325659 single nucleotide variant NM_005188.3(CBL):c.*6575G>C 569180524 MedGen:CN239316 11 119306356 119306356 G C 325668 single nucleotide variant NM_005188.3(CBL):c.*6933C>A 886047807 MedGen:CN239316 11 119306714 119306714 C A 325668 single nucleotide variant NM_005188.3(CBL):c.*6933C>A 886047807 MedGen:CN239316 11 119177424 119177424 C A 325687 deletion NM_005188.3(CBL):c.*7170_*7173delAAAA 886047811 MedGen:CN239316 11 119306951 119306954 AAAA - 325687 deletion NM_005188.3(CBL):c.*7170_*7173delAAAA 886047811 MedGen:CN239316 11 119177661 119177664 AAAA - 325690 deletion NM_005188.3(CBL):c.*7580_*7581delTC 376134331 MedGen:CN239316 11 119307361 119307362 TC - 325690 deletion NM_005188.3(CBL):c.*7580_*7581delTC 376134331 MedGen:CN239316 11 119178071 119178072 TC - 325692 single nucleotide variant NM_005188.3(CBL):c.*7689C>G 187961956 MedGen:CN239316 11 119307470 119307470 C G 325692 single nucleotide variant NM_005188.3(CBL):c.*7689C>G 187961956 MedGen:CN239316 11 119178180 119178180 C G 325694 single nucleotide variant NM_005188.3(CBL):c.*7761G>A 745412309 MedGen:CN239316 11 119307542 119307542 G A 325694 single nucleotide variant NM_005188.3(CBL):c.*7761G>A 745412309 MedGen:CN239316 11 119178252 119178252 G A 325696 single nucleotide variant NM_005188.3(CBL):c.*8058C>T 569107221 MedGen:CN239316 11 119307839 119307839 C T 325696 single nucleotide variant NM_005188.3(CBL):c.*8058C>T 569107221 MedGen:CN239316 11 119178549 119178549 C T 325697 deletion NM_005188.3(CBL):c.*8292_*8295delGTTA 886047815 MedGen:CN239316 11 119308073 119308076 GTTA - 325697 deletion NM_005188.3(CBL):c.*8292_*8295delGTTA 886047815 MedGen:CN239316 11 119178783 119178786 GTTA - 353170 single nucleotide variant NM_005188.3(CBL):c.-157A>G 527849757 MedGen:CN239316 11 119076971 119076971 A G 353170 single nucleotide variant NM_005188.3(CBL):c.-157A>G 527849757 MedGen:CN239316 11 119206261 119206261 A G 359861 single nucleotide variant NM_005188.3(CBL):c.1096-7A>G 1057517968 MedGen:CN169374 11 119278159 119278159 A G 359861 single nucleotide variant NM_005188.3(CBL):c.1096-7A>G 1057517968 MedGen:CN169374 11 119148869 119148869 A G 359986 single nucleotide variant NM_005188.3(CBL):c.1850G>T (p.Arg617Leu) 780457588 MedGen:CN169374 11 119285475 119285475 G T 359986 single nucleotide variant NM_005188.3(CBL):c.1850G>T (p.Arg617Leu) 780457588 MedGen:CN169374 11 119156185 119156185 G T 359995 single nucleotide variant NM_005188.3(CBL):c.2677C>T (p.Arg893Trp) 368138875 MedGen:CN169374 11 119170447 119170447 C T 359995 single nucleotide variant NM_005188.3(CBL):c.2677C>T (p.Arg893Trp) 368138875 MedGen:CN169374 11 119299737 119299737 C T 360010 single nucleotide variant NM_005188.3(CBL):c.665T>C (p.Met222Thr) 1057518053 MedGen:CN169374 11 119273942 119273942 T C 360010 single nucleotide variant NM_005188.3(CBL):c.665T>C (p.Met222Thr) 1057518053 MedGen:CN169374 11 119144652 119144652 T C 360011 single nucleotide variant NM_005188.3(CBL):c.2504G>A (p.Arg835Gln) 1057518072 MedGen:CN169374 11 119299564 119299564 G A 360011 single nucleotide variant NM_005188.3(CBL):c.2504G>A (p.Arg835Gln) 1057518072 MedGen:CN169374 11 119170274 119170274 G A 361723 single nucleotide variant NM_005188.3(CBL):c.405G>C (p.Glu135Asp) -1 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119232657 119232657 G C 361723 single nucleotide variant NM_005188.3(CBL):c.405G>C (p.Glu135Asp) -1 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119103367 119103367 G C 361724 single nucleotide variant NM_005188.3(CBL):c.1945A>G (p.Met649Val) 769423231 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119287855 119287855 A G 361724 single nucleotide variant NM_005188.3(CBL):c.1945A>G (p.Met649Val) 769423231 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119158565 119158565 A G 361725 single nucleotide variant NM_005188.3(CBL):c.2097G>A (p.Glu699=) -1 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119296978 119296978 G A 361725 single nucleotide variant NM_005188.3(CBL):c.2097G>A (p.Glu699=) -1 MedGen:C3150803,OMIM:613563,Orphanet:ORPHA363972 11 119167688 119167688 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 11 119075429 rs4938638 G A rs4938638 3.78E-04 Multiple complex diseases HPOID:0000118 NA A nearGene-5 GWASdb_trait 11 119075429 rs4938638 G A rs4938638 8.59E-05 Personality dimensions HPOID:0012075 DOID:1510 A nearGene-5 GWASdb_trait 11 119096785 rs12786104 T G rs12786104 5.10E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 11 119099906 rs4938642 G C rs4938642 8.00E-11 Platelet counts HPOID:0011873 DOID:74|DOID:526|DOID:3393 G intron GWASdb_trait 11 119099906 rs4938642 G C rs4938642 1.00E-05 Platelet counts HPOID:0011873 DOID:74|DOID:526|DOID:3393 G intron GWASdb_trait 11 119108112 rs7113047 A G rs7113047 4.30E-05 Personality dimensions HPOID:0012075 DOID:1510 G intron GWASdb_trait 11 119145274 rs2276083 A G rs2276083 4.90E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 11 119172536 rs1047417 A G rs1047417 3.86E-05 Inflammation NA NA A UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000110395.6 CBL 165360