| Mutation ID |
38 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35719518:35719518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1687+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000314888 |
| Start |
35698422:35698423(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7271_7272insAGAAACATA |
| AA Mutation |
p.Leu2424_Ile2425insGluThrTyr(p.L2424_I2425insETY) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TLN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35706490:35706490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5150C>T |
| AA Mutation |
p.Ala1717Val(p.A1717V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35698640:35698640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7165T>G |
| AA Mutation |
p.Trp2389Gly(p.W2389G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35714270:35714270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764011686
|
| CDS Mutation |
c.3089C>T |
| AA Mutation |
p.Ala1030Val(p.A1030V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35717174:35717174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2430G>T |
| AA Mutation |
p.Glu810Asp(p.E810D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35711693:35711693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3781C>T |
| AA Mutation |
p.Arg1261Trp(p.R1261W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35717157:35717157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2447T>C |
| AA Mutation |
p.Met816Thr(p.M816T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35716495:35716495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2520C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000314888 |
| Start |
35699393:35699393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6837C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|