| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447292:121447292(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.450delG |
| AA Mutation |
p.Leu151CysfsTer21(p.L151Cfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000282561 |
| Start |
121447304:121447304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763503078
|
| CDS Mutation |
c.457C>T |
| AA Mutation |
p.Arg153Ter(p.R153*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GJA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121446945:121446945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.98G>A |
| AA Mutation |
p.Arg33Gln(p.R33Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447149:121447149(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755535373
|
| CDS Mutation |
c.302G>A |
| AA Mutation |
p.Arg101Gln(p.R101Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447394:121447394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.547G>A |
| AA Mutation |
p.Ala183Thr(p.A183T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447865:121447865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1018G>T |
| AA Mutation |
p.Asp340Tyr(p.D340Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447305:121447305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.458G>A |
| AA Mutation |
p.Arg153Gln(p.R153Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447760:121447760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.913G>T |
| AA Mutation |
p.Ala305Ser(p.A305S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447720:121447720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767963064
|
| CDS Mutation |
c.873C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447522:121447522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.675C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|