| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229729 |
| Start |
31864888:31864889(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1853dupT |
| AA Mutation |
p.Ser619LeufsTer9(p.S619Lfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229729 |
| Start |
31874757:31874758(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs764603659
|
| CDS Mutation |
c.431dupA |
| AA Mutation |
p.Asn144LysfsTer55(p.N144Kfs*55) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC44A4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229729 |
| Start |
31870946:31870946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.803T>G |
| AA Mutation |
p.Val268Gly(p.V268G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229729 |
| Start |
31874505:31874505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.484C>A |
| AA Mutation |
p.Leu162Met(p.L162M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229729 |
| Start |
31878973:31878973(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs760348287
|
| CDS Mutation |
c.8delG |
| AA Mutation |
p.Gly3GlufsTer44(p.G3Efs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000229729 |
| Start |
31877053:31877053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.70C>T |
| AA Mutation |
p.Arg24Ter(p.R24*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|