| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126019802:126019803(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs758654497
|
| CDS Mutation |
c.2561dupC |
| AA Mutation |
p.Gln855SerfsTer55(p.Q855Sfs*55) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126038347:126038350(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2250-1_2252delGGTG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAM12
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126039385:126039385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2158C>A |
| AA Mutation |
p.Leu720Ile(p.L720I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126049339:126049339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1840C>A |
| AA Mutation |
p.Leu614Met(p.L614M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126135633:126135633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763136025
|
| CDS Mutation |
c.376C>T |
| AA Mutation |
p.Arg126Trp(p.R126W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126071529:126071529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1280G>A |
| AA Mutation |
p.Cys427Tyr(p.C427Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126108646:126108646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.697G>T |
| AA Mutation |
p.Asp233Tyr(p.D233Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126101160:126101160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.832G>A |
| AA Mutation |
p.Asp278Asn(p.D278N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368679 |
| Start |
126036246:126036246(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2438delA |
| AA Mutation |
p.Gln813ArgfsTer126(p.Q813Rfs*126) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|