Mutation

Primary Site >> Stomach Cancer

Gene >> PTCHD3

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27413421:27413421(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147881350
CDS Mutation	c.830C>T
AA Mutation	p.Thr277Met(p.T277M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27413656:27413656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757465209
CDS Mutation	c.595G>A
AA Mutation	p.Ala199Thr(p.A199T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27398769:27398769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1829T>C
AA Mutation	p.Val610Ala(p.V610A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27413209:27413209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs536511410
CDS Mutation	c.1042G>A
AA Mutation	p.Asp348Asn(p.D348N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27414015:27414015(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.236C>T
AA Mutation	p.Ser79Leu(p.S79L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27414031:27414031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.220G>A
AA Mutation	p.Ala74Thr(p.A74T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27399138:27399138(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1460C>T
AA Mutation	p.Ala487Val(p.A487V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27403325:27403325(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747571467
CDS Mutation	c.1244C>T
AA Mutation	p.Ala415Val(p.A415V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27403347:27403347(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1222A>G
AA Mutation	p.Ile408Val(p.I408V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27413485:27413485(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.766G>A
AA Mutation	p.Ala256Thr(p.A256T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27398449:27398449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2149A>G
AA Mutation	p.Thr717Ala(p.T717A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27399129:27399129(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1469T>A
AA Mutation	p.Ile490Asn(p.I490N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27398380:27398380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2218T>C
AA Mutation	p.Ser740Pro(p.S740P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27398367:27398367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2231T>A
AA Mutation	p.Ile744Asn(p.I744N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000438700
Start	27414021:27414021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777691741
CDS Mutation	c.230G>A
AA Mutation	p.Arg77Gln(p.R77Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27413486:27413486(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.765C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27414098:27414098(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.153G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27413549:27413549(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.702C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27413210:27413210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1041C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27414068:27414068(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766948492
CDS Mutation	c.183G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27413699:27413699(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764224948
CDS Mutation	c.552C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27399110:27399110(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1488T>A
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27413639:27413639(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.612C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27414065:27414065(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.186G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27398456:27398456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2142G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27414221:27414221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369428695
CDS Mutation	c.30G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27413471:27413471(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747067509
CDS Mutation	c.780G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000438700
Start	27413348:27413348(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765756459
CDS Mutation	c.903C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000438700
Start	27398834:27398834(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1764delT
AA Mutation	p.Phe588LeufsTer18(p.F588Lfs*18)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000438700
Start	27414022:27414022(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs570928509
CDS Mutation	c.229delC
AA Mutation	p.Arg77GlyfsTer43(p.R77Gfs*43)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000438700
Start	27399232:27399232(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1366delG
AA Mutation	p.Val456SerfsTer7(p.V456Sfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	32
Mutation Consequence	stop_gained
Transcription ID	ENST00000438700
Start	27398376:27398376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2222C>G
AA Mutation	p.Ser741Ter(p.S741*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript