Colon Cancer: Gene >> ADGRV1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90629442:90629442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1742A>T
AA Mutation	p.Asn581Ile(p.N581I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90653794:90653794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4220C>A
AA Mutation	p.Ala1407Asp(p.A1407D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90776473:90776473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs534226753
CDS Mutation	c.12424C>T
AA Mutation	p.Arg4142Trp(p.R4142W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90848700:90848700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.17083C>A
AA Mutation	p.Leu5695Ile(p.L5695I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90692621:90692621(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6968T>A
AA Mutation	p.Leu2323Gln(p.L2323Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90807727:90807727(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14962G>A
AA Mutation	p.Ala4988Thr(p.A4988T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90810773:90810773(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15513G>T
AA Mutation	p.Gln5171His(p.Q5171H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90689960:90689960(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6590T>G
AA Mutation	p.Leu2197Arg(p.L2197R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90694048:90694048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7292C>T
AA Mutation	p.Ala2431Val(p.A2431V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90728807:90728807(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10300T>G
AA Mutation	p.Leu3434Val(p.L3434V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000405460
Start	90810234:90810234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14974T>G
AA Mutation	p.Ser4992Ala(p.S4992A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90810585:90810585(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15325T>C
AA Mutation	p.Trp5109Arg(p.W5109R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90840659:90840659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.16693A>G
AA Mutation	p.Thr5565Ala(p.T5565A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90774192:90774192(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12292T>A
AA Mutation	p.Ser4098Thr(p.S4098T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90690875:90690875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6785C>A
AA Mutation	p.Ser2262Tyr(p.S2262Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90697115:90697115(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8124G>T
AA Mutation	p.Gln2708His(p.Q2708H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90712315:90712315(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9071A>G
AA Mutation	p.Tyr3024Cys(p.Y3024C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90791036:90791036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14207C>A
AA Mutation	p.Ser4736Tyr(p.S4736Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90789831:90789831(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14023G>T
AA Mutation	p.Gly4675Cys(p.G4675C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90810515:90810515(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15255G>T
AA Mutation	p.Glu5085Asp(p.E5085D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90617926:90617926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.330A>C
AA Mutation	p.Glu110Asp(p.E110D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90712338:90712338(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9094C>A
AA Mutation	p.Leu3032Ile(p.L3032I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90745189:90745189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10693T>G
AA Mutation	p.Leu3565Val(p.L3565V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90791243:90791243(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376076666
CDS Mutation	c.14414C>T
AA Mutation	p.Ser4805Leu(p.S4805L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90811078:90811078(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766812068
CDS Mutation	c.15818C>T
AA Mutation	p.Ala5273Val(p.A5273V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90653462:90653462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3888G>T
AA Mutation	p.Leu1296Phe(p.L1296F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90776474:90776474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12425G>A
AA Mutation	p.Arg4142Gln(p.R4142Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90716596:90716596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762116905
CDS Mutation	c.9314G>A
AA Mutation	p.Arg3105Gln(p.R3105Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90763440:90763440(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12256C>T
AA Mutation	p.Pro4086Ser(p.P4086S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90840606:90840606(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200907244
CDS Mutation	c.16640G>A
AA Mutation	p.Arg5547His(p.R5547H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90694279:90694279(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7523G>T
AA Mutation	p.Arg2508Met(p.R2508M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90783199:90783199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13307T>C
AA Mutation	p.Phe4436Ser(p.F4436S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	91072538:91072538(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.18244G>T
AA Mutation	p.Ala6082Ser(p.A6082S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90690047:90690047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6677A>G
AA Mutation	p.Glu2226Gly(p.E2226G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90629385:90629385(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1685C>T
AA Mutation	p.Ala562Val(p.A562V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90810270:90810270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368077476
CDS Mutation	c.15010G>A
AA Mutation	p.Val5004Ile(p.V5004I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90652491:90652491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767721447
CDS Mutation	c.3562A>G
AA Mutation	p.Ile1188Val(p.I1188V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90697047:90697047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8056C>T
AA Mutation	p.Pro2686Ser(p.P2686S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90840827:90840827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.16861T>G
AA Mutation	p.Ser5621Ala(p.S5621A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90652366:90652366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3437A>G
AA Mutation	p.Tyr1146Cys(p.Y1146C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90627631:90627631(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372147148
CDS Mutation	c.1093G>T
AA Mutation	p.Asp365Tyr(p.D365Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90643912:90643912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2663G>A
AA Mutation	p.Gly888Asp(p.G888D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90791132:90791132(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200130204
CDS Mutation	c.14303C>T
AA Mutation	p.Ser4768Leu(p.S4768L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90679626:90679626(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367621359
CDS Mutation	c.5521C>T
AA Mutation	p.Arg1841Cys(p.R1841C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90811119:90811119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761984180
CDS Mutation	c.15859T>C
AA Mutation	p.Trp5287Arg(p.W5287R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90637794:90637794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2086G>A
AA Mutation	p.Gly696Ser(p.G696S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90692765:90692765(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7112C>T
AA Mutation	p.Ala2371Val(p.A2371V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90619120:90619120(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.392G>T
AA Mutation	p.Arg131Met(p.R131M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000405460
Start	90716467:90716467(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752689523
CDS Mutation	c.9185C>T
AA Mutation	p.Ala3062Val(p.A3062V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90777913:90777913(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201743191
CDS Mutation	c.12536G>A
AA Mutation	p.Arg4179Gln(p.R4179Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90724868:90724868(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9785T>C
AA Mutation	p.Phe3262Ser(p.F3262S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90689865:90689865(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6495A>C
AA Mutation	p.Glu2165Asp(p.E2165D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90840963:90840963(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371528462
CDS Mutation	c.16997C>T
AA Mutation	p.Ala5666Val(p.A5666V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90643875:90643875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2626G>A
AA Mutation	p.Val876Ile(p.V876I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000405460
Start	90703665:90703665(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8156G>A
AA Mutation	p.Gly2719Glu(p.G2719E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90789830:90789830(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14022G>T
AA Mutation	p.Lys4674Asn(p.K4674N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90721056:90721056(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9745A>G
AA Mutation	p.Met3249Val(p.M3249V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90694368:90694368(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7612T>G
AA Mutation	p.Phe2538Val(p.F2538V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90716481:90716481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9199C>A
AA Mutation	p.Leu3067Ile(p.L3067I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90753740:90753740(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11288C>A
AA Mutation	p.Ser3763Tyr(p.S3763Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90789762:90789762(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13954A>G
AA Mutation	p.Lys4652Glu(p.K4652E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90658033:90658033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201391886
CDS Mutation	c.4507G>A
AA Mutation	p.Ala1503Thr(p.A1503T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90683971:90683971(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6050C>T
AA Mutation	p.Thr2017Ile(p.T2017I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90694126:90694126(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7370C>A
AA Mutation	p.Ala2457Asp(p.A2457D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90783869:90783869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13465A>G
AA Mutation	p.Thr4489Ala(p.T4489A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90810527:90810527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15267T>G
AA Mutation	p.Phe5089Leu(p.F5089L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90646059:90646059(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2990T>C
AA Mutation	p.Ile997Thr(p.I997T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90778880:90778880(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12865A>G
AA Mutation	p.Ile4289Val(p.I4289V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90855833:90855833(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.17687A>G
AA Mutation	p.Tyr5896Cys(p.Y5896C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90647699:90647699(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3224T>G
AA Mutation	p.Phe1075Cys(p.F1075C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90783316:90783316(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13424A>G
AA Mutation	p.Asp4475Gly(p.D4475G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90985491:90985491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.18121T>C
AA Mutation	p.Ser6041Pro(p.S6041P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90644796:90644796(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2825C>A
AA Mutation	p.Pro942His(p.P942H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90729645:90729645(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10430A>G
AA Mutation	p.Asp3477Gly(p.D3477G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90652494:90652494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3565C>A
AA Mutation	p.Leu1189Ile(p.L1189I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90703783:90703783(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8274T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90810620:90810620(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15360A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90694403:90694403(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7647C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90720206:90720206(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9606C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90684017:90684017(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6096G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90985365:90985365(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.17995C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90708845:90708845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8760C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90683819:90683819(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754110689
CDS Mutation	c.5898G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90776565:90776565(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776057320
CDS Mutation	c.12516C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90712373:90712373(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9129T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	91150146:91150146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs192571483
CDS Mutation	c.18549G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90776562:90776562(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12513T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90628820:90628820(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201377512
CDS Mutation	c.1497C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	89
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90777989:90777989(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12612A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	90
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	91163801:91163801(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.18822T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	91
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90644779:90644779(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2808T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	92
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90657909:90657909(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4383T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	93
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90675364:90675364(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5232C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	94
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90694613:90694613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7857A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	95
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	91072522:91072522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs562067191
CDS Mutation	c.18228C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	96
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90781538:90781538(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13191A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	97
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90763361:90763361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12177G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	98
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90653675:90653675(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777621884
CDS Mutation	c.4101G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	99
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90728729:90728729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10222C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	100
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90783308:90783308(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13416C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	101
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90658053:90658053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4527A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	102
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90628679:90628679(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1356C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	103
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90810525:90810525(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.15271delT
AA Mutation	p.Tyr5091ThrfsTer7(p.Y5091Tfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	104
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90672616:90672616(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4828delT
AA Mutation	p.Tyr1610ThrfsTer36(p.Y1610Tfs*36)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	105
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90853288:90853288(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.17212delA
AA Mutation	p.Thr5738ProfsTer48(p.T5738Pfs*48)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	106
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90828964:90828964(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.16395delT
AA Mutation	p.Phe5465LeufsTer13(p.F5465Lfs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	107
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90755021:90755021(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.11418delA
AA Mutation	p.Gly3807AspfsTer10(p.G3807Dfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	108
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90625193:90625193(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs756977835
CDS Mutation	c.626delC
AA Mutation	p.Pro209LeufsTer6(p.P209Lfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	109
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90789790:90789790(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs751429551
CDS Mutation	c.13983delA
AA Mutation	p.Leu4664CysfsTer23(p.L4664Cfs*23)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	110
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90745697:90745697(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.10880delA
AA Mutation	p.Asn3627IlefsTer14(p.N3627Ifs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	111
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	91102238:91102238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.18330T>A
AA Mutation	p.Tyr6110Ter(p.Y6110*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	112
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90685887:90685887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs727504561
CDS Mutation	c.6382C>T
AA Mutation	p.Arg2128Ter(p.R2128*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	113
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90763395:90763395(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12211C>T
AA Mutation	p.Arg4071Ter(p.R4071*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	114
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90790881:90790881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14052G>A
AA Mutation	p.Trp4684Ter(p.W4684*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	115
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90745667:90745667(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10846G>T
AA Mutation	p.Glu3616Ter(p.E3616*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	116
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90628569:90628569(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1246G>T
AA Mutation	p.Glu416Ter(p.E416*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	117
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000405460
Start	90720179:90720180(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.9579_9580insTAGAATA
AA Mutation	p.Gln3194Ter(p.Q3194*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	118
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000405460
Start	90745695:90745696(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.10874_10875insACAACAAATTTAAGATATATACATAG
AA Mutation	p.Lys3626GlnfsTer4(p.K3626Qfs*4)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	119
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90627217:90627217(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.679G>T
AA Mutation	p.Glu227Ter(p.E227*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	120
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90683859:90683860(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.5944dupT
AA Mutation	p.Ser1982PhefsTer2(p.S1982Ffs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	121
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90674214:90674215(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.5090_5091insGAACATATATATTC
AA Mutation	p.Ala1698AsnfsTer28(p.A1698Nfs*28)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	122
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000405460
Start	90697000:90697001(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.8009_8010insGCCCAAAATAATT
AA Mutation	p.Ser2670ArgfsTer9(p.S2670Rfs*9)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	123
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000405460
Start	90637950:90637950(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2240+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	124
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000405460
Start	90679631:90679631(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371375835
CDS Mutation	c.5524+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	125
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000405460
Start	90674151:90674152(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.5028_5060dupCTCAACTCCTACCAGTGGTGCAAGCATAGATCC
AA Mutation	p.Ser1677_Pro1687dup(p.S1677_P1687dup)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> ADGRV1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90776534:90776534(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370746571
CDS Mutation	c.12485T>C
AA Mutation	p.Ile4162Thr(p.I4162T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90625226:90625226(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.655A>G
AA Mutation	p.Thr219Ala(p.T219A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90629430:90629430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1730T>C
AA Mutation	p.Ile577Thr(p.I577T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90642954:90642954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2466C>A
AA Mutation	p.Phe822Leu(p.F822L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90643972:90643972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2723C>T
AA Mutation	p.Ala908Val(p.A908V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90653440:90653440(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3866C>T
AA Mutation	p.Ser1289Phe(p.S1289F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	91163812:91163812(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.18833C>A
AA Mutation	p.Ser6278Tyr(p.S6278Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90653503:90653503(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3929C>A
AA Mutation	p.Thr1310Asn(p.T1310N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90810694:90810694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15434C>T
AA Mutation	p.Ala5145Val(p.A5145V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90622618:90622618(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.475G>A
AA Mutation	p.Glu159Lys(p.E159K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90657998:90657998(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138373307
CDS Mutation	c.4472C>T
AA Mutation	p.Thr1491Met(p.T1491M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90810317:90810317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15057T>A
AA Mutation	p.Asp5019Glu(p.D5019E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90647543:90647543(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3068C>A
AA Mutation	p.Thr1023Lys(p.T1023K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90627496:90627496(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.958C>A
AA Mutation	p.Leu320Met(p.L320M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90658109:90658109(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4583C>A
AA Mutation	p.Ser1528Tyr(p.S1528Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90724949:90724949(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9866T>G
AA Mutation	p.Val3289Gly(p.V3289G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90840605:90840605(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.16639C>T
AA Mutation	p.Arg5547Cys(p.R5547C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90776513:90776513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765063091
CDS Mutation	c.12464C>T
AA Mutation	p.Pro4155Leu(p.P4155L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90627584:90627584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1046A>G
AA Mutation	p.Asp349Gly(p.D349G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90653781:90653781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4207T>G
AA Mutation	p.Leu1403Val(p.L1403V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90694210:90694210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7454A>G
AA Mutation	p.Asn2485Ser(p.N2485S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90725134:90725134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9955T>G
AA Mutation	p.Phe3319Val(p.F3319V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90776473:90776473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs534226753
CDS Mutation	c.12424C>T
AA Mutation	p.Arg4142Trp(p.R4142W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90810528:90810528(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15268T>A
AA Mutation	p.Phe5090Ile(p.F5090I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90853520:90853520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766106265
CDS Mutation	c.17441C>T
AA Mutation	p.Thr5814Ile(p.T5814I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90848725:90848725(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201073459
CDS Mutation	c.17108G>A
AA Mutation	p.Arg5703His(p.R5703H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90753594:90753594(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11142G>C
AA Mutation	p.Gln3714His(p.Q3714H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90725168:90725168(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9989G>T
AA Mutation	p.Arg3330Ile(p.R3330I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90779064:90779064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13049C>A
AA Mutation	p.Ser4350Tyr(p.S4350Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000405460
Start	90791340:90791340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14511G>T
AA Mutation	p.Lys4837Asn(p.K4837N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90628820:90628820(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201377512
CDS Mutation	c.1497C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90694313:90694313(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771150522
CDS Mutation	c.7557C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90745098:90745098(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10602G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90763325:90763325(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12141T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90778606:90778606(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12846G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90619109:90619109(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.381T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90643976:90643976(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768005220
CDS Mutation	c.2727C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90676175:90676175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5409T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90653882:90653882(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764931551
CDS Mutation	c.4308C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000405460
Start	90720953:90720953(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778864521
CDS Mutation	c.9642C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90791233:90791233(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14404C>T
AA Mutation	p.Arg4802Ter(p.R4802*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90853393:90853393(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749956288
CDS Mutation	c.17314C>T
AA Mutation	p.Arg5772Ter(p.R5772*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90644783:90644783(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2812C>T
AA Mutation	p.Gln938Ter(p.Q938*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	stop_gained
Transcription ID	ENST00000405460
Start	90756988:90756988(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11767G>T
AA Mutation	p.Glu3923Ter(p.E3923*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript