| Mutation ID |
17 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000515393 |
| Start |
94870870:94870870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2241+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000515393 |
| Start |
94707546:94707572(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2929-5_2950delAACAGGTGCAATACCAAGAACTGAAAC |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MCTP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000515393 |
| Start |
94923986:94923986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1248C>A |
| AA Mutation |
p.Phe416Leu(p.F416L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000515393 |
| Start |
94909282:94909282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1621G>T |
| AA Mutation |
p.Asp541Tyr(p.D541Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000515393 |
| Start |
94707530:94707530(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2966G>T |
| AA Mutation |
p.Ser989Ile(p.S989I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000515393 |
| Start |
94868375:94868375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2394C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000515393 |
| Start |
94710876:94710876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2772C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000515393 |
| Start |
95017430:95017430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.775G>T |
| AA Mutation |
p.Gly259Ter(p.G259*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000515393 |
| Start |
94870458:94870458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2275G>T |
| AA Mutation |
p.Glu759Ter(p.E759*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|