Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SPTBN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54645965:54645965(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746665381
CDS Mutation c.4532C>T
AA Mutation p.Thr1511Met(p.T1511M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54668451:54668451(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748736138
CDS Mutation c.6977C>T
AA Mutation p.Ala2326Val(p.A2326V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54631237:54631237(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3190C>G
AA Mutation p.Leu1064Val(p.L1064V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54624847:54624847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1226C>T
AA Mutation p.Ala409Val(p.A409V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000356805
Start 54617687:54617687(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.646C>T
AA Mutation p.Arg216Trp(p.R216W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54644525:54644525(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4208T>C
AA Mutation p.Ile1403Thr(p.I1403T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54629766:54629766(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2632C>T
AA Mutation p.Pro878Ser(p.P878S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54629199:54629199(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2065G>A
AA Mutation p.Gly689Ser(p.G689S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54622355:54622355(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.932C>T
AA Mutation p.Ala311Val(p.A311V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54629032:54629032(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752181604
CDS Mutation c.1898G>A
AA Mutation p.Arg633His(p.R633H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54653613:54653613(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5582G>T
AA Mutation p.Arg1861Met(p.R1861M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54644509:54644509(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754643448
CDS Mutation c.4192G>A
AA Mutation p.Gly1398Ser(p.G1398S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54657961:54657961(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6158A>C
AA Mutation p.Glu2053Ala(p.E2053A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54629488:54629488(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2354A>G
AA Mutation p.Lys785Arg(p.K785R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54649850:54649850(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5438A>G
AA Mutation p.Asp1813Gly(p.D1813G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000356805
Start 54659997:54659997(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6418C>T
AA Mutation p.Arg2140Trp(p.R2140W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54612290:54612290(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.430C>T
AA Mutation p.Arg144Trp(p.R144W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54646239:54646239(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4630A>G
AA Mutation p.Ile1544Val(p.I1544V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54668499:54668499(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7025C>T
AA Mutation p.Pro2342Leu(p.P2342L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54526432:54526432(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14T>C
AA Mutation p.Val5Ala(p.V5A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54645346:54645346(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201812651
CDS Mutation c.4387G>A
AA Mutation p.Val1463Met(p.V1463M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54616235:54616235(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.503A>G
AA Mutation p.Asp168Gly(p.D168G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54664682:54664682(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6650C>T
AA Mutation p.Ala2217Val(p.A2217V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54645355:54645355(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4396A>G
AA Mutation p.Lys1466Glu(p.K1466E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54621467:54621467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.831C>A
AA Mutation p.Phe277Leu(p.F277L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54626007:54626007(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752434436
CDS Mutation c.1417G>A
AA Mutation p.Ala473Thr(p.A473T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54653669:54653669(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375121259
CDS Mutation c.5638G>A
AA Mutation p.Asp1880Asn(p.D1880N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54668385:54668385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6911C>T
AA Mutation p.Ser2304Phe(p.S2304F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54629649:54629649(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749069838
CDS Mutation c.2515C>T
AA Mutation p.Arg839Trp(p.R839W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54668471:54668471(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772551816
CDS Mutation c.6997G>A
AA Mutation p.Val2333Ile(p.V2333I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54631534:54631534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3487A>C
AA Mutation p.Asn1163His(p.N1163H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54664490:54664490(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6458G>A
AA Mutation p.Gly2153Asp(p.G2153D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54649870:54649870(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5458C>T
AA Mutation p.Arg1820Cys(p.R1820C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54668433:54668433(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112558321
CDS Mutation c.6959C>T
AA Mutation p.Thr2320Met(p.T2320M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000356805
Start 54626204:54626204(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761984098
CDS Mutation c.1614C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000356805
Start 54631104:54631104(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768214982
CDS Mutation c.3057G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000356805
Start 54649737:54649737(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5325C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000356805
Start 54622467:54622467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1044C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000356805
Start 54629504:54629504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2370G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000356805
Start 54659969:54659969(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145150707
CDS Mutation c.6390C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant
Transcription ID ENST00000356805
Start 54626095:54626095(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1506delG
AA Mutation p.Lys503ArgfsTer24(p.K503Rfs*24)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 42
Mutation Consequence stop_gained
Transcription ID ENST00000356805
Start 54643062:54643062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3938G>A
AA Mutation p.Trp1313Ter(p.W1313*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence stop_gained
Transcription ID ENST00000356805
Start 54649645:54649645(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5233C>T
AA Mutation p.Arg1745Ter(p.R1745*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence stop_gained
Transcription ID ENST00000356805
Start 54626226:54626226(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1636G>T
AA Mutation p.Glu546Ter(p.E546*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence splice_donor_variant
Transcription ID ENST00000356805
Start 54526568:54526568(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.148+2T>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 46
Mutation Consequence inframe_insertion
Transcription ID ENST00000356805
Start 54629741:54629742(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2607_2608insACT
AA Mutation p.Glu869_Gln870insThr(p.E869_Q870insT)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> SPTBN1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54631313:54631313(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3266A>T
AA Mutation p.Asp1089Val(p.D1089V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000356805
Start 54629476:54629476(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2342C>T
AA Mutation p.Ser781Phe(p.S781F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000356805
Start 54637731:54637731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3786G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000356805
Start 54646206:54646206(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4597G>T
AA Mutation p.Glu1533Ter(p.E1533*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript