| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000288985 |
| Start |
95921256:95921256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1273C>T |
| AA Mutation |
p.Gln425Ter(p.Q425*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000288985 |
| Start |
95915735:95915735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.889G>T |
| AA Mutation |
p.Glu297Ter(p.E297*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ERCC6L2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320486 |
| Start |
96012482:96012482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.847C>A |
| AA Mutation |
p.Ser283Tyr(p.S283Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320486 |
| Start |
96004698:96004698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369846292
|
| CDS Mutation |
c.586G>A |
| AA Mutation |
p.Arg196His(p.R196H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288985 |
| Start |
95897881:95897881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.537A>C |
| AA Mutation |
p.Lys179Asn(p.K179N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288985 |
| Start |
95928756:95928756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1676G>C |
| AA Mutation |
p.Gly559Ala(p.G559A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288985 |
| Start |
95921196:95921196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1213G>T |
| AA Mutation |
p.Asp405Tyr(p.D405Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320486 |
| Start |
96012521:96012521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.886C>A |
| AA Mutation |
p.Ser296Tyr(p.S296Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288985 |
| Start |
95928127:95928127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150855705
|
| CDS Mutation |
c.1615C>A |
| AA Mutation |
p.Leu539Ile(p.L539I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|