Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> FBXW7

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152328232:152328232(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1394G>A
AA Mutation p.Arg465His(p.R465H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152324294:152324294(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1745C>T
AA Mutation p.Ser582Leu(p.S582L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152326092:152326092(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1558G>A
AA Mutation p.Asp520Asn(p.D520N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152328233:152328233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1393C>T
AA Mutation p.Arg465Cys(p.R465C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152326092:152326092(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1558G>T
AA Mutation p.Asp520Tyr(p.D520Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000281708
Start 152411304:152411304(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.500A>C
AA Mutation p.Lys167Thr(p.K167T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152411763:152411763(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200698994
CDS Mutation c.41G>A
AA Mutation p.Arg14Gln(p.R14Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152324369:152324369(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1670G>T
AA Mutation p.Gly557Val(p.G557V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152323032:152323032(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759610249
CDS Mutation c.1973G>A
AA Mutation p.Arg658Gln(p.R658Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152326113:152326113(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1537A>T
AA Mutation p.Arg513Trp(p.R513W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152337828:152337828(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.835G>T
AA Mutation p.Asp279Tyr(p.D279Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152332679:152332679(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.902T>C
AA Mutation p.Leu301Pro(p.L301P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000281708
Start 152337803:152337803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.860A>T
AA Mutation p.Glu287Val(p.E287V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152326137:152326137(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1513C>G
AA Mutation p.Arg505Gly(p.R505G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152322940:152322940(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2065C>T
AA Mutation p.Arg689Trp(p.R689W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152323128:152323128(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1877C>A
AA Mutation p.Ala626Asp(p.A626D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152324309:152324309(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1730T>C
AA Mutation p.Leu577Ser(p.L577S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152326136:152326136(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1514G>A
AA Mutation p.Arg505His(p.R505H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152326137:152326137(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149680468
CDS Mutation c.1513C>T
AA Mutation p.Arg505Cys(p.R505C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152326215:152326215(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747241612
CDS Mutation c.1435C>G
AA Mutation p.Arg479Gly(p.R479G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152329730:152329730(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1178G>A
AA Mutation p.Arg393Gln(p.R393Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152328313:152328313(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1313C>T
AA Mutation p.Ser438Phe(p.S438F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152326016:152326016(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1634A>G
AA Mutation p.Tyr545Cys(p.Y545C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000281708
Start 152411372:152411372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.432G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000281708
Start 152326177:152326177(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1473C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000281708
Start 152324191:152324191(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1848A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152323004:152323004(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2001delG
AA Mutation p.Ser668ValfsTer39(p.S668Vfs*39)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 28
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152323026:152323026(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1979delT
AA Mutation p.Leu660GlnfsTer47(p.L660Qfs*47)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 29
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000281708
Start 152328209:152328209(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1417delA
AA Mutation p.Arg473GlufsTer25(p.R473Efs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 30
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152411689:152411695(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.109_115delGTAGAGG
AA Mutation p.Val37ArgfsTer24(p.V37Rfs*24)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 31
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152329696:152329696(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1212delA
AA Mutation p.Val405PhefsTer10(p.V405Ffs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 32
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152326197:152326197(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1453delG
AA Mutation p.Val485PhefsTer13(p.V485Ffs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 33
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152411764:152411764(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40C>T
AA Mutation p.Arg14Ter(p.R14*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152326215:152326215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1435C>T
AA Mutation p.Arg479Ter(p.R479*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152346986:152346986(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.670C>T
AA Mutation p.Arg224Ter(p.R224*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152350054:152350054(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.572C>G
AA Mutation p.Ser191Ter(p.S191*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152330743:152330743(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1111A>T
AA Mutation p.Lys371Ter(p.K371*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152323033:152323033(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1972C>T
AA Mutation p.Arg658Ter(p.R658*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152330755:152330755(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1099C>T
AA Mutation p.Arg367Ter(p.R367*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152411527:152411527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.277G>T
AA Mutation p.Gly93Ter(p.G93*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152323003:152323004(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2001dupG
AA Mutation p.Ser668GlufsTer26(p.S668Efs*26)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 42
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152328366:152328367(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1252_1259dupGTGGGACA
AA Mutation p.His420GlnfsTer13(p.H420Qfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 43
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152337875:152337876(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.787dupA
AA Mutation p.Thr263AsnfsTer24(p.T263Nfs*24)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 44
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152323142:152323143(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1862dupA
AA Mutation p.Asn621LysfsTer23(p.N621Kfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 45
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152332668:152332669(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.909_912dupAGCA
AA Mutation p.Ala305SerfsTer13(p.A305Sfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152329746:152329747(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1161dupA
AA Mutation p.Gln388ThrfsTer5(p.Q388Tfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> FBXW7

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152328232:152328232(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1394G>A
AA Mutation p.Arg465His(p.R465H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152328233:152328233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1393C>T
AA Mutation p.Arg465Cys(p.R465C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152324241:152324241(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1798G>T
AA Mutation p.Asp600Tyr(p.D600Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152328317:152328317(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1309G>A
AA Mutation p.Gly437Arg(p.G437R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000281708
Start 152350042:152350042(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.584G>T
AA Mutation p.Ser195Ile(p.S195I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152324294:152324294(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1745C>T
AA Mutation p.Ser582Leu(p.S582L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152324301:152324301(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1738C>T
AA Mutation p.His580Tyr(p.H580Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152328299:152328299(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1327C>T
AA Mutation p.Leu443Phe(p.L443F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152346985:152346985(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.671G>T
AA Mutation p.Arg224Leu(p.R224L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152324342:152324342(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1697G>T
AA Mutation p.Trp566Leu(p.W566L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152346941:152346941(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.715A>C
AA Mutation p.Lys239Gln(p.K239Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000281708
Start 152350090:152350090(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201753217
CDS Mutation c.536G>A
AA Mutation p.Arg179His(p.R179H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152326175:152326175(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1475delA
AA Mutation p.Gln492ArgfsTer6(p.Q492Rfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000281708
Start 152337839:152337843(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.820_824delCCCCA
AA Mutation p.Pro274ValfsTer11(p.P274Vfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152337818:152337818(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.845C>A
AA Mutation p.Ser282Ter(p.S282*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152411515:152411515(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.289G>T
AA Mutation p.Glu97Ter(p.E97*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152330755:152330755(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1099C>T
AA Mutation p.Arg367Ter(p.R367*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152330749:152330749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1105G>T
AA Mutation p.Glu369Ter(p.E369*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152350054:152350054(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.572C>G
AA Mutation p.Ser191Ter(p.S191*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152326215:152326215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1435C>T
AA Mutation p.Arg479Ter(p.R479*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152346986:152346986(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.670C>T
AA Mutation p.Arg224Ter(p.R224*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence stop_gained
Transcription ID ENST00000281708
Start 152323033:152323033(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1972C>T
AA Mutation p.Arg658Ter(p.R658*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000281708
Start 152328208:152328209(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1417dupA
AA Mutation p.Arg473LysfsTer4(p.R473Kfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 24
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000281708
Start 152326233:152326233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1419-2A>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 25
Mutation Consequence splice_donor_variant
Transcription ID ENST00000281708
Start 152330730:152330730(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1122+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 26
Mutation Consequence splice_donor_variant
Transcription ID ENST00000281708
Start 152328207:152328207(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1418+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 27
Mutation Consequence splice_donor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000281708
Start 152332592:152332626(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.955_985+4delCTTCTCTGGAGAGAGAAATGCAAAGAAGAGGGTAA
Mutation Classification Splice_Site
Feature Type Transcript