| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000402219 |
| Start |
39022949:39022950(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1478dupA |
| AA Mutation |
p.Phe494ValfsTer9(p.F494Vfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000402219 |
| Start |
38997029:38997030(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2973_2974insATG |
| AA Mutation |
p.Phe991_Glu992insMet(p.F991_E992insM) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SOS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402219 |
| Start |
39022954:39022954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1474G>A |
| AA Mutation |
p.Glu492Lys(p.E492K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402219 |
| Start |
39024037:39024037(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1175C>T |
| AA Mutation |
p.Ser392Phe(p.S392F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402219 |
| Start |
39022701:39022701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1727G>A |
| AA Mutation |
p.Arg576Lys(p.R576K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402219 |
| Start |
39022932:39022932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1496T>A |
| AA Mutation |
p.Val499Glu(p.V499E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402219 |
| Start |
38986216:38986216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374497013
|
| CDS Mutation |
c.3610A>G |
| AA Mutation |
p.Ile1204Val(p.I1204V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000402219 |
| Start |
38986129:38986129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777373438
|
| CDS Mutation |
c.3697C>A |
| AA Mutation |
p.Leu1233Ile(p.L1233I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000402219 |
| Start |
39054697:39054697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.637C>T |
| AA Mutation |
p.Arg213Ter(p.R213*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000402219 |
| Start |
39010618:39010618(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2476C>T |
| AA Mutation |
p.Arg826Ter(p.R826*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|