Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PRKD1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29599086:29599086(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2107G>A
AA Mutation	p.Val703Ile(p.V703I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29634427:29634427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1305G>T
AA Mutation	p.Lys435Asn(p.K435N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29638737:29638737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.864G>T
AA Mutation	p.Lys288Asn(p.K288N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29725560:29725560(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370180862
CDS Mutation	c.379G>A
AA Mutation	p.Asp127Asn(p.D127N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29630954:29630954(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

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29578315:29578315(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2480G>A
AA Mutation	p.Arg827His(p.R827H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29578289:29578289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2506C>A
AA Mutation	p.His836Asn(p.H836N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000331968
Start	29577454:29577454(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2523C>A
AA Mutation	p.Asp841Glu(p.D841E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29634464:29634464(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1268T>G
AA Mutation	p.Val423Gly(p.V423G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29666191:29666191(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.421G>T
AA Mutation	p.Asp141Tyr(p.D141Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29632936:29632936(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1325A>G
AA Mutation	p.His442Arg(p.H442R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29927289:29927289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.224C>T
AA Mutation	p.Ala75Val(p.A75V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29638840:29638840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.761G>C
AA Mutation	p.Gly254Ala(p.G254A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29599043:29599043(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2150C>T
AA Mutation	p.Ala717Val(p.A717V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000331968
Start	29626486:29626486(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1796G>T
AA Mutation	p.Gly599Val(p.G599V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29663749:29663749(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145651161
CDS Mutation	c.646C>T
AA Mutation	p.Arg216Cys(p.R216C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29626504:29626504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1778A>T
AA Mutation	p.Gln593Leu(p.Q593L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29577332:29577332(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2645C>T
AA Mutation	p.Thr882Ile(p.T882I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29630937:29630937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs191202207
CDS Mutation	c.1477G>A
AA Mutation	p.Glu493Lys(p.E493K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29634490:29634490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1242A>C
AA Mutation	p.Lys414Asn(p.K414N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29597640:29597640(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758982696
CDS Mutation	c.2285G>A
AA Mutation	p.Arg762His(p.R762H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29638536:29638536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771614547
CDS Mutation	c.938C>T
AA Mutation	p.Ala313Val(p.A313V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29577404:29577404(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs559828373
CDS Mutation	c.2573G>A
AA Mutation	p.Arg858His(p.R858H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331968
Start	29577412:29577412(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143388121
CDS Mutation	c.2565C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331968
Start	29666104:29666104(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.508C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331968
Start	29663828:29663828(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.567A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331968
Start	29632913:29632919(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1342_1348delAGCAAAT
AA Mutation	p.Ser448ValfsTer28(p.S448Vfs*28)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	stop_gained
Transcription ID	ENST00000331968
Start	29599065:29599065(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2128G>T
AA Mutation	p.Glu710Ter(p.E710*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	stop_gained
Transcription ID	ENST00000331968
Start	29630818:29630818(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1596G>A
AA Mutation	p.Trp532Ter(p.W532*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	stop_gained
Transcription ID	ENST00000331968
Start	29638841:29638841(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.760G>T
AA Mutation	p.Gly254Ter(p.G254*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331968
Start	29599090:29599091(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2102dupA
AA Mutation	p.Asn701LysfsTer6(p.N701Kfs*6)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331968
Start	29663791:29663792(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.603_604insCCATACC
AA Mutation	p.Arg202ProfsTer22(p.R202Pfs*22)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331968
Start	29725658:29725659(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.280_281insCTAA
AA Mutation	p.Phe94SerfsTer7(p.F94Sfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PRKD1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29630937:29630937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs191202207
CDS Mutation	c.1477G>A
AA Mutation	p.Glu493Lys(p.E493K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29663760:29663760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.635T>C
AA Mutation	p.Val212Ala(p.V212A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29666128:29666128(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.484C>A
AA Mutation	p.His162Asn(p.H162N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29638738:29638738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.863A>C
AA Mutation	p.Lys288Thr(p.K288T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29597528:29597528(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2397G>A
AA Mutation	p.Met799Ile(p.M799I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29597637:29597637(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2288C>A
AA Mutation	p.Ser763Tyr(p.S763Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000331968
Start	29634479:29634479(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1253G>T
AA Mutation	p.Arg418Met(p.R418M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331968
Start	29663777:29663777(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs55949943
CDS Mutation	c.618C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331968
Start	29636463:29636463(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1017G>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000331968
Start	29638874:29638874(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.727C>T
AA Mutation	p.Arg243Ter(p.R243*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript