| Mutation ID |
85 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16984279:16984284(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4351-5_4351delGTTAGA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
86 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000377833 |
| Start |
17114190:17114190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.721-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CUBN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
17100211:17100211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145380076
|
| CDS Mutation |
c.1559G>A |
| AA Mutation |
p.Arg520Gln(p.R520Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16869846:16869846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9244G>T |
| AA Mutation |
p.Asp3082Tyr(p.D3082Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
17068149:17068149(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199835213
|
| CDS Mutation |
c.2923G>A |
| AA Mutation |
p.Glu975Lys(p.E975K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
17071967:17071967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770625165
|
| CDS Mutation |
c.2306G>A |
| AA Mutation |
p.Arg769Gln(p.R769Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16928240:16928240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138959174
|
| CDS Mutation |
c.6188G>A |
| AA Mutation |
p.Arg2063Gln(p.R2063Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16874456:16874456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9154G>T |
| AA Mutation |
p.Ala3052Ser(p.A3052S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16869740:16869740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs184750323
|
| CDS Mutation |
c.9350G>A |
| AA Mutation |
p.Arg3117His(p.R3117H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16904040:16904040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7988C>A |
| AA Mutation |
p.Ser2663Tyr(p.S2663Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16933122:16933122(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143400113
|
| CDS Mutation |
c.6089G>A |
| AA Mutation |
p.Arg2030Gln(p.R2030Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16948519:16948519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5168G>A |
| AA Mutation |
p.Ser1723Asn(p.S1723N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
17110966:17110966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.968A>G |
| AA Mutation |
p.Glu323Gly(p.E323G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16920056:16920056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs544059289
|
| CDS Mutation |
c.6728C>T |
| AA Mutation |
p.Pro2243Leu(p.P2243L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377833 |
| Start |
17100182:17100182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1588G>A |
| AA Mutation |
p.Glu530Lys(p.E530K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16948491:16948491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs182162293
|
| CDS Mutation |
c.5196C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377833 |
| Start |
16841030:16841030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9681T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377833 |
| Start |
16919988:16919988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373056649
|
| CDS Mutation |
c.6796C>T |
| AA Mutation |
p.Arg2266Ter(p.R2266*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000377833 |
| Start |
17047604:17047604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3140-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|