| Mutation ID |
44 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263094 |
| Start |
1057033:1057033(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4718delG |
| AA Mutation |
p.Gly1573AlafsTer82(p.G1573Afs*82) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263094 |
| Start |
1054270:1054270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3655C>T |
| AA Mutation |
p.Gln1219Ter(p.Q1219*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCA7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263094 |
| Start |
1041864:1041864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.194G>A |
| AA Mutation |
p.Gly65Asp(p.G65D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263094 |
| Start |
1058264:1058264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5144G>T |
| AA Mutation |
p.Arg1715Leu(p.R1715L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263094 |
| Start |
1053335:1053335(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3227C>T |
| AA Mutation |
p.Pro1076Leu(p.P1076L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|