| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12870863:12870864(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3045_3046delTG |
| AA Mutation |
p.Ala1016TrpfsTer19(p.A1016Wfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12851933:12851933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.775-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAST1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12869119:12869119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2827T>C |
| AA Mutation |
p.Ser943Pro(p.S943P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12873756:12873756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3599G>A |
| AA Mutation |
p.Gly1200Asp(p.G1200D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12867870:12867870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2459G>A |
| AA Mutation |
p.Arg820His(p.R820H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12869240:12869240(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2948C>T |
| AA Mutation |
p.Ala983Val(p.A983V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12870915:12870915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3095T>C |
| AA Mutation |
p.Val1032Ala(p.V1032A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12858382:12858382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1098G>T |
| AA Mutation |
p.Lys366Asn(p.K366N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251472 |
| Start |
12847955:12847955(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.672C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|