| Mutation ID |
27 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000302850 |
| Start |
7267898:7267898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.101-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000302850 |
| Start |
7170729:7170730(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1290_1291insTGGATTTCT |
| AA Mutation |
p.Leu430_Asp431insTrpIleSer(p.L430_D431insWIS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> INSR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302850 |
| Start |
7166216:7166216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745372291
|
| CDS Mutation |
c.1799C>T |
| AA Mutation |
p.Ser600Leu(p.S600L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000302850 |
| Start |
7166380:7166380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372275564
|
| CDS Mutation |
c.1635C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000302850 |
| Start |
7117180:7117180(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4025delG |
| AA Mutation |
p.Gly1342AlafsTer23(p.G1342Afs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|