| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355773 |
| Start |
73641867:73641867(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs772039085
|
| CDS Mutation |
c.349delT |
| AA Mutation |
p.Tyr117MetfsTer17(p.Y117Mfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355773 |
| Start |
73600364:73600365(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1336dupA |
| AA Mutation |
p.Ser446LysfsTer5(p.S446Kfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC17A5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355773 |
| Start |
73615336:73615336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150686745
|
| CDS Mutation |
c.1090C>T |
| AA Mutation |
p.Arg364Cys(p.R364C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355773 |
| Start |
73641869:73641869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.347T>G |
| AA Mutation |
p.Phe116Cys(p.F116C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355773 |
| Start |
73615437:73615437(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.989delT |
| AA Mutation |
p.Leu330TyrfsTer7(p.L330Yfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|