Mutation

Primary Site >> Stomach Cancer

Gene >> CASR

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122284623:122284623(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs567996888
CDS Mutation	c.2669G>A
AA Mutation	p.Arg890His(p.R890H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122257277:122257277(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs104893696
CDS Mutation	c.382T>C
AA Mutation	p.Phe128Leu(p.F128L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122284869:122284869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200620134
CDS Mutation	c.2915C>T
AA Mutation	p.Thr972Met(p.T972M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122284028:122284028(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2074A>G
AA Mutation	p.Ile692Val(p.I692V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122261592:122261592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.557C>T
AA Mutation	p.Thr186Ile(p.T186I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122275975:122275975(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1541A>G
AA Mutation	p.Tyr514Cys(p.Y514C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122254280:122254280(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.91G>A
AA Mutation	p.Asp31Asn(p.D31N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122284245:122284245(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145209598
CDS Mutation	c.2291C>T
AA Mutation	p.Thr764Met(p.T764M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122282128:122282128(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1624T>A
AA Mutation	p.Cys542Ser(p.C542S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122262210:122262210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1175G>A
AA Mutation	p.Arg392Gln(p.R392Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122261649:122261649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763162046
CDS Mutation	c.614G>A
AA Mutation	p.Arg205His(p.R205H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122262248:122262248(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1213G>A
AA Mutation	p.Glu405Lys(p.E405K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122284865:122284865(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2911G>A
AA Mutation	p.Gly971Ser(p.G971S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000490131
Start	122284022:122284022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2068C>T
AA Mutation	p.Leu690Phe(p.L690F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000490131
Start	122261683:122261683(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774470582
CDS Mutation	c.648C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000490131
Start	122284192:122284192(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149557554
CDS Mutation	c.2238G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000490131
Start	122284018:122284018(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs150869744
CDS Mutation	c.2064C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000490131
Start	122285032:122285032(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3078C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000490131
Start	122261888:122261888(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.853C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000490131
Start	122261923:122261923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759988398
CDS Mutation	c.888C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000490131
Start	122284279:122284292(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2329_2342delATCGGCTACACCTG
AA Mutation	p.Ile777ProfsTer22(p.I777Pfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000490131
Start	122254292:122254292(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.108delG
AA Mutation	p.Leu37SerfsTer8(p.L37Sfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000490131
Start	122262209:122262209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1174C>T
AA Mutation	p.Arg392Ter(p.R392*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000490131
Start	122261714:122261714(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.679C>T
AA Mutation	p.Arg227Ter(p.R227*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000490131
Start	122262329:122262329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1294C>T
AA Mutation	p.Gln432Ter(p.Q432*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript