| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369705 |
| Start |
83228850:83228850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1108G>T |
| AA Mutation |
p.Glu370Ter(p.E370*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000369705 |
| Start |
83239532:83239543(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.908_912+7delGAGAGGTATTTG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ME1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369705 |
| Start |
83253683:83253683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267601137
|
| CDS Mutation |
c.760C>T |
| AA Mutation |
p.Arg254Cys(p.R254C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369705 |
| Start |
83212034:83212034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1609G>A |
| AA Mutation |
p.Glu537Lys(p.E537K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369705 |
| Start |
83253708:83253708(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.735A>C |
| AA Mutation |
p.Glu245Asp(p.E245D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369705 |
| Start |
83212021:83212021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756328212
|
| CDS Mutation |
c.1622G>A |
| AA Mutation |
p.Arg541His(p.R541H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369705 |
| Start |
83407799:83407799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.181A>T |
| AA Mutation |
p.Asn61Tyr(p.N61Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|