| Mutation ID |
27 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355710 |
| Start |
43118396:43118396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775711017
|
| CDS Mutation |
c.2308C>T |
| AA Mutation |
p.Arg770Ter(p.R770*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000355710 |
| Start |
43112852:43112852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1649-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RET
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355710 |
| Start |
43121949:43121949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2734C>T |
| AA Mutation |
p.Arg912Trp(p.R912W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000355710 |
| Start |
43111465:43111465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775152474
|
| CDS Mutation |
c.1522T>C |
| AA Mutation |
p.Tyr508His(p.Y508H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355710 |
| Start |
43106491:43106491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.983C>G |
| AA Mutation |
p.Thr328Ser(p.T328S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355710 |
| Start |
43102533:43102533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765654609
|
| CDS Mutation |
c.529C>T |
| AA Mutation |
p.Arg177Trp(p.R177W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355710 |
| Start |
43116590:43116590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2143C>T |
| AA Mutation |
p.Pro715Ser(p.P715S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355710 |
| Start |
43114709:43114709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2109G>C |
| AA Mutation |
p.Gln703His(p.Q703H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355710 |
| Start |
43114712:43114712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2112C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|