Mutation

Primary Site >> Stomach Cancer

Gene >> JAK2

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5054649:5054649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373174105
CDS Mutation	c.701G>A
AA Mutation	p.Arg234His(p.R234H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5065030:5065030(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1204G>A
AA Mutation	p.Gly402Ser(p.G402S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5054708:5054708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.760T>C
AA Mutation	p.Tyr254His(p.Y254H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5126729:5126729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774469142
CDS Mutation	c.3337C>T
AA Mutation	p.Arg1113Cys(p.R1113C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000381652
Start	5089674:5089674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2572G>A
AA Mutation	p.Gly858Ser(p.G858S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5044429:5044429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.377G>A
AA Mutation	p.Ser126Asn(p.S126N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5070030:5070030(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1619T>A
AA Mutation	p.Ile540Asn(p.I540N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5078361:5078361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2048G>C
AA Mutation	p.Arg683Thr(p.R683T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5089710:5089710(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774495851
CDS Mutation	c.2608C>T
AA Mutation	p.Pro870Ser(p.P870S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5077560:5077560(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1972G>A
AA Mutation	p.Ala658Thr(p.A658T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5072572:5072572(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777571524
CDS Mutation	c.1722T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5022092:5022092(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.105A>T
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5064999:5064999(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760934459
CDS Mutation	c.1173C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5069141:5069141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1446G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5054662:5054662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.714G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5080260:5080260(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2163T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5089751:5089751(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2649G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381652
Start	5066768:5066768(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1310delT
AA Mutation	p.Leu437Ter(p.L437*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381652
Start	5090820:5090839(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2973_2992delAATTGGAGATTTTGGGTTAA
AA Mutation	p.Lys991AsnfsTer12(p.K991Nfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381652
Start	5050798:5050799(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.581_582insAGGAAATATC
AA Mutation	p.Asp194GlufsTer12(p.D194Efs*12)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381652
Start	5050791:5050792(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.578dupA
AA Mutation	p.Asn193LysfsTer10(p.N193Kfs*10)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	22
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000381652
Start	5022214:5022214(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.226+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript