| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334304 |
| Start |
22436621:22436627(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1100_1106delTGGCAGG |
| AA Mutation |
p.Leu367SerfsTer98(p.L367Sfs*98) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000334304 |
| Start |
22473770:22473770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.329+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADGRA3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334304 |
| Start |
22387790:22387790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770969743
|
| CDS Mutation |
c.3881G>A |
| AA Mutation |
p.Ser1294Asn(p.S1294N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334304 |
| Start |
22388766:22388766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746516223
|
| CDS Mutation |
c.2905G>A |
| AA Mutation |
p.Glu969Lys(p.E969K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334304 |
| Start |
22413339:22413339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758572665
|
| CDS Mutation |
c.2075G>A |
| AA Mutation |
p.Arg692Gln(p.R692Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334304 |
| Start |
22461800:22461800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776366061
|
| CDS Mutation |
c.338G>A |
| AA Mutation |
p.Arg113Gln(p.R113Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334304 |
| Start |
22461801:22461801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.337C>T |
| AA Mutation |
p.Arg113Ter(p.R113*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|