| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355422 |
| Start |
116125461:116125461(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.530delC |
| AA Mutation |
p.Pro177ArgfsTer68(p.P177Rfs*68) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000355422 |
| Start |
116125219:116125219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.770+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GFRA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355422 |
| Start |
116089817:116089817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1121A>C |
| AA Mutation |
p.Lys374Thr(p.K374T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355422 |
| Start |
116064412:116064412(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1384A>T |
| AA Mutation |
p.Thr462Ser(p.T462S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355422 |
| Start |
116125447:116125447(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752981166
|
| CDS Mutation |
c.544G>A |
| AA Mutation |
p.Val182Met(p.V182M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355422 |
| Start |
116125477:116125477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.514T>A |
| AA Mutation |
p.Ser172Thr(p.S172T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355422 |
| Start |
116125315:116125315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs191814086
|
| CDS Mutation |
c.676C>T |
| AA Mutation |
p.Arg226Ter(p.R226*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355422 |
| Start |
116096742:116096743(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs753876091
|
| CDS Mutation |
c.792dupT |
| AA Mutation |
p.Thr265TyrfsTer20(p.T265Yfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|