| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295598 |
| Start |
116396613:116396613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1852G>T |
| AA Mutation |
p.Gly618Ter(p.G618*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000295598 |
| Start |
116403922:116403924(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2992_2994delATC |
| AA Mutation |
p.Ile998del(p.I998del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATP1A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116390844:116390844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1285A>G |
| AA Mutation |
p.Asn429Asp(p.N429D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116401180:116401180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745657240
|
| CDS Mutation |
c.2769C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116401150:116401150(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs114525271
|
| CDS Mutation |
c.2739C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116388244:116388245(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.501_501+1insCT |
| AA Mutation |
p.Gln168LeufsTer5(p.Q168Lfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|