| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000259056 |
| Start |
157299660:157299661(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2110_2111insGAAAGC |
| AA Mutation |
p.Phe704delinsTer(p.F704delins*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157300763:157300764(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2203_2204insCCTG |
| AA Mutation |
p.Lys735ThrfsTer2(p.K735Tfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GALNT5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157286065:157286065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1672C>T |
| AA Mutation |
p.Arg558Trp(p.R558W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157259245:157259245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1163G>A |
| AA Mutation |
p.Gly388Glu(p.G388E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157308648:157308648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200855507
|
| CDS Mutation |
c.2602G>A |
| AA Mutation |
p.Val868Ile(p.V868I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157258324:157258324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755395227
|
| CDS Mutation |
c.242A>G |
| AA Mutation |
p.His81Arg(p.H81R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157258349:157258349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.267G>T |
| AA Mutation |
p.Glu89Asp(p.E89D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157258654:157258654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.572T>C |
| AA Mutation |
p.Val191Ala(p.V191A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157259374:157259374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1292C>A |
| AA Mutation |
p.Ser431Tyr(p.S431Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157258879:157258879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764953641
|
| CDS Mutation |
c.797A>G |
| AA Mutation |
p.Asn266Ser(p.N266S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000259056 |
| Start |
157300705:157300705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201738512
|
| CDS Mutation |
c.2145C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|