| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367412 |
| Start |
197067175:197067175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.49G>T |
| AA Mutation |
p.Glu17Ter(p.E17*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367412 |
| Start |
197040630:197040631(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1843_1844insAAAAAAACTTCTTACC |
| AA Mutation |
p.Ile615LysfsTer8(p.I615Kfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> F13B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367412 |
| Start |
197052718:197052718(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1471G>T |
| AA Mutation |
p.Asp491Tyr(p.D491Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367412 |
| Start |
197055841:197055841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144134146
|
| CDS Mutation |
c.1228G>A |
| AA Mutation |
p.Gly410Arg(p.G410R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367412 |
| Start |
197040565:197040565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1909G>T |
| AA Mutation |
p.Asp637Tyr(p.D637Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367412 |
| Start |
197050772:197050772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1663G>C |
| AA Mutation |
p.Asp555His(p.D555H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367412 |
| Start |
197060451:197060451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.720C>A |
| AA Mutation |
p.Phe240Leu(p.F240L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367412 |
| Start |
197060435:197060435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.736T>G |
| AA Mutation |
p.Tyr246Asp(p.Y246D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|