| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338641 |
| Start |
29694776:29694776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1762C>T |
| AA Mutation |
p.Arg588Ter(p.R588*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000338641 |
| Start |
29655677:29655677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.599+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NF2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338641 |
| Start |
29639137:29639137(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.288C>A |
| AA Mutation |
p.Phe96Leu(p.F96L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338641 |
| Start |
29673416:29673416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763826793
|
| CDS Mutation |
c.1270C>T |
| AA Mutation |
p.Arg424Cys(p.R424C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338641 |
| Start |
29636811:29636811(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.175A>G |
| AA Mutation |
p.Thr59Ala(p.T59A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|