| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000381269 |
| Start |
70167862:70167862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374973822
|
| CDS Mutation |
c.561C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000381269 |
| Start |
70167316:70167330(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1093_1107delGCAGGCAATATCCTG |
| AA Mutation |
p.Ala365_Leu369del(p.A365_L369del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC8A3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000381269 |
| Start |
70055813:70055813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774149200
|
| CDS Mutation |
c.1889C>T |
| AA Mutation |
p.Ala630Val(p.A630V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381269 |
| Start |
70166762:70166762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1661G>A |
| AA Mutation |
p.Arg554Gln(p.R554Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381269 |
| Start |
70048815:70048815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2359G>T |
| AA Mutation |
p.Asp787Tyr(p.D787Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381269 |
| Start |
70048887:70048887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2287C>A |
| AA Mutation |
p.Leu763Ile(p.L763I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381269 |
| Start |
70045961:70045961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2770A>G |
| AA Mutation |
p.Ile924Val(p.I924V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000381269 |
| Start |
70060861:70060861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376675749
|
| CDS Mutation |
c.1863G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000381269 |
| Start |
70051102:70051102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781373778
|
| CDS Mutation |
c.2037G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|