Mutation

Primary Site >> Pancreatic Cancer

Gene >> USH2A

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	216323633:216323633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771000800
CDS Mutation	c.1391G>A
AA Mutation	p.Arg464His(p.R464H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	216325351:216325351(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1097A>G
AA Mutation	p.Asn366Ser(p.N366S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215813798:215813798(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9677G>A
AA Mutation	p.Arg3226Gln(p.R3226Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215639166:215639166(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15041C>T
AA Mutation	p.Ser5014Phe(p.S5014F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215647557:215647557(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14756C>A
AA Mutation	p.Ala4919Asp(p.A4919D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215674821:215674821(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13090C>T
AA Mutation	p.Leu4364Phe(p.L4364F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215786840:215786840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774237501
CDS Mutation	c.10217C>T
AA Mutation	p.Ser3406Phe(p.S3406F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215817068:215817068(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9499C>T
AA Mutation	p.Leu3167Phe(p.L3167F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215838076:215838076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147267500
CDS Mutation	c.9286G>A
AA Mutation	p.Val3096Met(p.V3096M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215867072:215867072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8780G>T
AA Mutation	p.Arg2927Ile(p.R2927I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215888794:215888794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7855A>T
AA Mutation	p.Thr2619Ser(p.T2619S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	216070104:216070104(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6046A>G
AA Mutation	p.Thr2016Ala(p.T2016A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	216083481:216083481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5273A>C
AA Mutation	p.Asn1758Thr(p.N1758T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	216084872:216084872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4993A>C
AA Mutation	p.Ile1665Leu(p.I1665L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	216250908:216250908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2162T>G
AA Mutation	p.Val721Gly(p.V721G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	216422240:216422240(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.97T>C
AA Mutation	p.Ser33Pro(p.S33P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215888646:215888646(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8003A>G
AA Mutation	p.Glu2668Gly(p.E2668G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	216321954:216321954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375741757
CDS Mutation	c.1573G>A
AA Mutation	p.Asp525Asn(p.D525N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000307340
Start	215786808:215786808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10249G>A
AA Mutation	p.Asp3417Asn(p.D3417N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000307340
Start	215759749:215759749(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11142A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000307340
Start	215845831:215845831(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9048C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000307340
Start	216097146:216097146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4695T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000307340
Start	216217405:216217405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3139C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000307340
Start	216292323:216292323(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1692T>G
Mutation Classification	Silent
Feature Type	Transcript

ID	25
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000307340
Start	215844373:215844374(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.9178_9179insCCTCCCAAGCAAGTGTTCCAGGTCATTAGCAG
AA Mutation	p.Lys3060ThrfsTer10(p.K3060Tfs*10)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript