Colon Cancer: Gene >> PSEN2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226888993:226888993(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.731T>A
AA Mutation	p.Ile244Asn(p.I244N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226888836:226888836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.574C>A
AA Mutation	p.Leu192Ile(p.L192I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226881987:226881987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149354305
CDS Mutation	c.80C>T
AA Mutation	p.Thr27Met(p.T27M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226895467:226895467(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775164469
CDS Mutation	c.1235C>T
AA Mutation	p.Ala412Val(p.A412V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226888902:226888902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs574125890
CDS Mutation	c.640G>A
AA Mutation	p.Val214Met(p.V214M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226890104:226890104(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.857A>G
AA Mutation	p.Glu286Gly(p.E286G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226888972:226888972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200670135
CDS Mutation	c.710C>T
AA Mutation	p.Ala237Val(p.A237V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226888106:226888106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.514T>A
AA Mutation	p.Leu172Met(p.L172M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366783
Start	226883863:226883863(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200801915
CDS Mutation	c.300C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366783
Start	226890039:226890039(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs77875620
CDS Mutation	c.792C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366783
Start	226882000:226882000(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.93C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366783
Start	226883779:226883779(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.216G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366783
Start	226889033:226889033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs7539017
CDS Mutation	c.771C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366783
Start	226895495:226895495(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766859560
CDS Mutation	c.1263G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000366783
Start	226885578:226885578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.397C>T
AA Mutation	p.Gln133Ter(p.Q133*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000366783
Start	226890082:226890082(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.835G>T
AA Mutation	p.Glu279Ter(p.E279*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PSEN2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000366783
Start	226895462:226895462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1230G>T
AA Mutation	p.Lys410Asn(p.K410N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366783
Start	226895498:226895498(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200169735
CDS Mutation	c.1266C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366783
Start	226885595:226885595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747738607
CDS Mutation	c.414C>T
Mutation Classification	Silent
Feature Type	Transcript