Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ERBB4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211624034:211624034(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2090C>A
AA Mutation p.Pro697Gln(p.P697Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211665450:211665450(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1744C>T
AA Mutation p.His582Tyr(p.H582Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000342788
Start 211428481:211428481(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771843850
CDS Mutation c.2646G>A
AA Mutation p.Met882Ile(p.M882I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211420516:211420516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3060G>T
AA Mutation p.Glu1020Asp(p.E1020D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211431070:211431070(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369248674
CDS Mutation c.2518G>A
AA Mutation p.Val840Ile(p.V840I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 212538484:212538484(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47C>T
AA Mutation p.Ala16Val(p.A16V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211704160:211704160(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1233G>A
AA Mutation p.Met411Ile(p.M411I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211665437:211665437(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1757G>A
AA Mutation p.Gly586Asp(p.G586D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 212124762:212124762(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765191737
CDS Mutation c.224C>T
AA Mutation p.Ser75Phe(p.S75F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 212124771:212124771(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762478821
CDS Mutation c.215G>C
AA Mutation p.Arg72Pro(p.R72P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211657773:211657773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1927A>T
AA Mutation p.Thr643Ser(p.T643S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211424221:211424221(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2800G>A
AA Mutation p.Glu934Lys(p.E934K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211387030:211387030(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3304T>G
AA Mutation p.Phe1102Val(p.F1102V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 212124846:212124846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.140G>T
AA Mutation p.Arg47Leu(p.R47L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211384045:211384045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3497T>A
AA Mutation p.Val1166Glu(p.V1166E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211619242:211619242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2236A>T
AA Mutation p.Ile746Phe(p.I746F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211947544:211947544(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201152419
CDS Mutation c.307C>T
AA Mutation p.Arg103Cys(p.R103C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211702162:211702162(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1294C>A
AA Mutation p.Leu432Met(p.L432M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211387076:211387076(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3258C>A
AA Mutation p.Ser1086Arg(p.S1086R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211430955:211430955(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2633A>T
AA Mutation p.Asp878Val(p.D878V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211430988:211430988(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2600T>C
AA Mutation p.Leu867Pro(p.L867P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211947510:211947510(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767277487
CDS Mutation c.341G>A
AA Mutation p.Arg114Gln(p.R114Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 212538475:212538475(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.56C>T
AA Mutation p.Thr19Ile(p.T19I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 212124891:212124891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.95C>T
AA Mutation p.Thr32Met(p.T32M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211713576:211713576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.956G>A
AA Mutation p.Gly319Glu(p.G319E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211424217:211424217(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2804A>C
AA Mutation p.Lys935Thr(p.K935T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211383844:211383844(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3698C>T
AA Mutation p.Ala1233Val(p.A1233V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211387031:211387031(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764593744
CDS Mutation c.3303T>G
AA Mutation p.Ile1101Met(p.I1101M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211630560:211630560(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1981C>G
AA Mutation p.Leu661Val(p.L661V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211705347:211705347(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1169A>T
AA Mutation p.Asn390Ile(p.N390I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211420602:211420602(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143134749
CDS Mutation c.2974C>T
AA Mutation p.Arg992Cys(p.R992C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211619227:211619227(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2251A>C
AA Mutation p.Lys751Gln(p.K751Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211657787:211657787(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1913G>T
AA Mutation p.Trp638Leu(p.W638L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211624002:211624002(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2122G>A
AA Mutation p.Ala708Thr(p.A708T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211630495:211630495(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2046G>T
AA Mutation p.Lys682Asn(p.K682N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211623932:211623932(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374970657
CDS Mutation c.2192C>T
AA Mutation p.Thr731Met(p.T731M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211947534:211947534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.317G>A
AA Mutation p.Arg106His(p.R106H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211788084:211788084(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.497T>A
AA Mutation p.Ile166Asn(p.I166N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211725141:211725141(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs561236916
CDS Mutation c.676G>A
AA Mutation p.Val226Ile(p.V226I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211424178:211424178(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2843A>T
AA Mutation p.Asp948Val(p.D948V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 212538461:212538461(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.70G>A
AA Mutation p.Asp24Asn(p.D24N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211420571:211420571(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3005A>C
AA Mutation p.Lys1002Thr(p.K1002T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211788140:211788140(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.441C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211702016:211702016(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1440A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211750700:211750700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.561A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211725148:211725148(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.669A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211383794:211383794(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3748C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211947521:211947521(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.330T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211431068:211431068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2520T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211712073:211712073(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1101C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211383651:211383651(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758510094
CDS Mutation c.3891G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000342788
Start 211384012:211384012(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3530delA
AA Mutation p.Asn1177MetfsTer27(p.N1177Mfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant;start_lost
Transcription ID ENST00000342788
Start 212538530:212538530(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1delA
AA Mutation p.Met1?(p.M1?)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000342788
Start 211561989:211561989(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2401delC
AA Mutation p.His801MetfsTer27(p.H801Mfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000342788
Start 211424239:211424239(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2782G>T
AA Mutation p.Glu928Ter(p.E928*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000342788
Start 211387016:211387016(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3318C>A
AA Mutation p.Cys1106Ter(p.C1106*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000342788
Start 211430982:211430983(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2605_2606insTATAAAATAT
AA Mutation p.Glu869ValfsTer2(p.E869Vfs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000342788
Start 212124865:212124866(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.119_120dupCT
AA Mutation p.Asp41LeufsTer26(p.D41Lfs*26)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000342788
Start 211722502:211722503(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.773_774insGTTATTCTTATTC
AA Mutation p.Cys258TrpfsTer43(p.C258Wfs*43)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> ERBB4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211665434:211665434(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1760C>A
AA Mutation p.Pro587Gln(p.P587Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211431024:211431024(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2564A>C
AA Mutation p.Asn855Thr(p.N855T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000342788
Start 211750641:211750641(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.620C>G
AA Mutation p.Thr207Ser(p.T207S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211383775:211383775(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3767C>T
AA Mutation p.Pro1256Leu(p.P1256L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 212124819:212124819(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.167G>A
AA Mutation p.Cys56Tyr(p.C56Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211422080:211422080(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2891G>A
AA Mutation p.Arg964Lys(p.R964K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211705321:211705321(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1195A>G
AA Mutation p.Thr399Ala(p.T399A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211679076:211679076(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1598T>C
AA Mutation p.Ile533Thr(p.I533T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211428426:211428426(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2701A>T
AA Mutation p.Ser901Cys(p.S901C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211387024:211387024(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3310G>T
AA Mutation p.Asp1104Tyr(p.D1104Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000342788
Start 211947522:211947522(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.329T>G
AA Mutation p.Leu110Arg(p.L110R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211947521:211947521(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.330T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000342788
Start 211387112:211387112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3222A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000342788
Start 211947610:211947610(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.241C>T
AA Mutation p.Arg81Ter(p.R81*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000342788
Start 211386853:211386853(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3481G>T
AA Mutation p.Glu1161Ter(p.E1161*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000342788
Start 211424239:211424239(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2782G>T
AA Mutation p.Glu928Ter(p.E928*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000342788
Start 211750657:211750657(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.604G>T
AA Mutation p.Glu202Ter(p.E202*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence stop_gained
Transcription ID ENST00000342788
Start 211424212:211424212(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2809G>T
AA Mutation p.Glu937Ter(p.E937*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript