| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262150 |
| Start |
66505018:66505018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780158515
|
| CDS Mutation |
c.2113G>T |
| AA Mutation |
p.Glu705Ter(p.E705*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262150 |
| Start |
66505289:66505290(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1841dupT |
| AA Mutation |
p.Leu614PhefsTer16(p.L614Ffs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CDH19
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262150 |
| Start |
66544172:66544172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1013A>G |
| AA Mutation |
p.Asn338Ser(p.N338S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262150 |
| Start |
66568524:66568524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.382G>T |
| AA Mutation |
p.Val128Leu(p.V128L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262150 |
| Start |
66504864:66504864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2267G>A |
| AA Mutation |
p.Arg756His(p.R756H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262150 |
| Start |
66544092:66544092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1093G>A |
| AA Mutation |
p.Asp365Asn(p.D365N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262150 |
| Start |
66529944:66529944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750247993
|
| CDS Mutation |
c.1359G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262150 |
| Start |
66568435:66568435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.471A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262150 |
| Start |
66505018:66505018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780158515
|
| CDS Mutation |
c.2113G>T |
| AA Mutation |
p.Glu705Ter(p.E705*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|