| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274487 |
| Start |
129596651:129596651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1447G>T |
| AA Mutation |
p.Glu483Ter(p.E483*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000274487 |
| Start |
129526349:129526350(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.961_962insCTTAAAGGGCA |
| AA Mutation |
p.Leu321SerfsTer2(p.L321Sfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAMTS19
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274487 |
| Start |
129622248:129622248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1652C>A |
| AA Mutation |
p.Ser551Tyr(p.S551Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274487 |
| Start |
129684167:129684167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2694T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274487 |
| Start |
129528586:129528586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1219G>T |
| AA Mutation |
p.Glu407Ter(p.E407*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274487 |
| Start |
129694824:129694824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780852099
|
| CDS Mutation |
c.2905C>T |
| AA Mutation |
p.Arg969Ter(p.R969*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000274487 |
| Start |
129528518:129528518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1153-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|