| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39410376:39410376(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1845delG |
| AA Mutation |
p.Ser616LeufsTer31(p.S616Lfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39408340:39408341(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3880_3881insA |
| AA Mutation |
p.Ser1294TyrfsTer16(p.S1294Yfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MED1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39415283:39415283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201065147
|
| CDS Mutation |
c.1354G>A |
| AA Mutation |
p.Val452Ile(p.V452I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39410123:39410123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2098C>A |
| AA Mutation |
p.Pro700Thr(p.P700T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39415333:39415333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1304C>T |
| AA Mutation |
p.Pro435Leu(p.P435L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39409792:39409792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2429C>A |
| AA Mutation |
p.Ser810Tyr(p.S810Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39408001:39408001(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4220A>C |
| AA Mutation |
p.Lys1407Thr(p.K1407T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39434314:39434314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.435A>C |
| AA Mutation |
p.Lys145Asn(p.K145N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300651 |
| Start |
39407481:39407481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4740G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|