| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258494 |
| Start |
105066610:105066611(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.653_654insTCATAGT |
| AA Mutation |
p.Glu218AspfsTer8(p.E218Dfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000258494 |
| Start |
105066609:105066610(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.654_655insTGT |
| AA Mutation |
p.Glu218_Gly219insCys(p.E218_G219insC) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ALDH1L2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258494 |
| Start |
105030409:105030409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2431G>A |
| AA Mutation |
p.Val811Met(p.V811M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258494 |
| Start |
105034317:105034317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778654002
|
| CDS Mutation |
c.2227G>A |
| AA Mutation |
p.Glu743Lys(p.E743K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258494 |
| Start |
105052826:105052826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1393C>A |
| AA Mutation |
p.Pro465Thr(p.P465T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258494 |
| Start |
105066586:105066586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.678G>T |
| AA Mutation |
p.Gln226His(p.Q226H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258494 |
| Start |
105052200:105052200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1425C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000258494 |
| Start |
105038108:105038108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376554461
|
| CDS Mutation |
c.2140C>T |
| AA Mutation |
p.Arg714Ter(p.R714*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|