| Mutation ID |
43 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000286744 |
| Start |
83983142:83983143(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3514_3515insA |
| AA Mutation |
p.Phe1172TyrfsTer20(p.F1172Yfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
44 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000286744 |
| Start |
83885213:83885213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1072+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAMTSL3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286744 |
| Start |
83982901:83982901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3273G>C |
| AA Mutation |
p.Met1091Ile(p.M1091I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286744 |
| Start |
83890145:83890145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1109G>C |
| AA Mutation |
p.Arg370Pro(p.R370P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286744 |
| Start |
83858804:83858804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.766A>G |
| AA Mutation |
p.Ser256Gly(p.S256G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286744 |
| Start |
83991190:83991190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs77086705
|
| CDS Mutation |
c.3949G>A |
| AA Mutation |
p.Val1317Met(p.V1317M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286744 |
| Start |
83982610:83982610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2982G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286744 |
| Start |
84025379:84025379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4599T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286744 |
| Start |
83870905:83870905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.906C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000286744 |
| Start |
83982437:83982437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370313572
|
| CDS Mutation |
c.2809C>T |
| AA Mutation |
p.Arg937Ter(p.R937*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000286744 |
| Start |
84021409:84021409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4274-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|