Colon Cancer: Gene >> CSMD3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112301872:112301872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8361G>T
AA Mutation	p.Leu2787Phe(p.L2787F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112295904:112295904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8543G>A
AA Mutation	p.Arg2848Gln(p.R2848Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112689976:112689976(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2047C>T
AA Mutation	p.Arg683Cys(p.R683C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112241728:112241728(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10460A>C
AA Mutation	p.Lys3487Thr(p.K3487T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112265581:112265581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9518G>A
AA Mutation	p.Cys3173Tyr(p.C3173Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112650170:112650170(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3184A>G
AA Mutation	p.Thr1062Ala(p.T1062A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112306175:112306175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7903C>A
AA Mutation	p.Pro2635Thr(p.P2635T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112314462:112314462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7516G>A
AA Mutation	p.Glu2506Lys(p.E2506K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112921678:112921678(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138791171
CDS Mutation	c.1582C>T
AA Mutation	p.Arg528Trp(p.R528W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112947860:112947860(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1438A>G
AA Mutation	p.Lys480Glu(p.K480E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113436797:113436797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.58G>A
AA Mutation	p.Gly20Ser(p.G20S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112311061:112311061(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs564995042
CDS Mutation	c.7802G>A
AA Mutation	p.Arg2601Gln(p.R2601Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113278678:113278678(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.428C>A
AA Mutation	p.Pro143Gln(p.P143Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112390758:112390758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5840A>C
AA Mutation	p.Lys1947Thr(p.K1947T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112645150:112645150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3269C>A
AA Mutation	p.Ser1090Tyr(p.S1090Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112550850:112550850(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200071288
CDS Mutation	c.4385C>T
AA Mutation	p.Thr1462Met(p.T1462M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112337692:112337692(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751658267
CDS Mutation	c.6692G>A
AA Mutation	p.Arg2231Gln(p.R2231Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112234454:112234454(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747094531
CDS Mutation	c.10651C>T
AA Mutation	p.Arg3551Cys(p.R3551C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112383584:112383584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6014G>T
AA Mutation	p.Arg2005Ile(p.R2005I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112335444:112335444(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7050C>G
AA Mutation	p.Ile2350Met(p.I2350M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112281208:112281208(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9474T>A
AA Mutation	p.Asn3158Lys(p.N3158K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112287085:112287085(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201521605
CDS Mutation	c.9310G>A
AA Mutation	p.Gly3104Arg(p.G3104R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112975884:112975884(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1295C>T
AA Mutation	p.Ala432Val(p.A432V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112263678:112263678(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9823G>T
AA Mutation	p.Gly3275Trp(p.G3275W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112947810:112947810(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1488G>T
AA Mutation	p.Lys496Asn(p.K496N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112292624:112292624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8701T>G
AA Mutation	p.Cys2901Gly(p.C2901G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112408356:112408356(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5567G>A
AA Mutation	p.Gly1856Glu(p.G1856E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112859192:112859192(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1708A>T
AA Mutation	p.Ser570Cys(p.S570C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113436842:113436842(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13C>T
AA Mutation	p.Arg5Cys(p.R5C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112311153:112311153(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7710T>A
AA Mutation	p.Ser2570Arg(p.S2570R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112291569:112291569(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8915C>A
AA Mutation	p.Ser2972Tyr(p.S2972Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112406715:112406715(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5618C>A
AA Mutation	p.Thr1873Lys(p.T1873K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113173851:113173851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.580T>A
AA Mutation	p.Phe194Ile(p.F194I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112341626:112341626(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139554725
CDS Mutation	c.6503G>A
AA Mutation	p.Arg2168Gln(p.R2168Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112976097:112976097(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1082A>G
AA Mutation	p.Asn361Ser(p.N361S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112289488:112289488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757229672
CDS Mutation	c.9025G>A
AA Mutation	p.Glu3009Lys(p.E3009K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112976010:112976010(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1169T>A
AA Mutation	p.Leu390His(p.L390H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112313963:112313963(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7639C>A
AA Mutation	p.Leu2547Ile(p.L2547I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112289440:112289440(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775065918
CDS Mutation	c.9073C>T
AA Mutation	p.Arg3025Cys(p.R3025C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113019078:113019078(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1019C>T
AA Mutation	p.Ala340Val(p.A340V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112650272:112650272(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3082A>T
AA Mutation	p.Ile1028Phe(p.I1028F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112682589:112682589(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777713609
CDS Mutation	c.2530C>T
AA Mutation	p.Arg844Trp(p.R844W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112492641:112492641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5126A>G
AA Mutation	p.Asn1709Ser(p.N1709S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112636990:112636990(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3542C>G
AA Mutation	p.Pro1181Arg(p.P1181R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112287142:112287142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9253G>T
AA Mutation	p.Gly3085Cys(p.G3085C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112390761:112390761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779645589
CDS Mutation	c.5837G>A
AA Mutation	p.Arg1946His(p.R1946H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112650170:112650170(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3184A>C
AA Mutation	p.Thr1062Pro(p.T1062P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113314765:113314765(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.207A>C
AA Mutation	p.Leu69Phe(p.L69F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112556903:112556903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4094A>C
AA Mutation	p.Lys1365Thr(p.K1365T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112517112:112517112(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4678C>A
AA Mutation	p.Leu1560Ile(p.L1560I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112295947:112295947(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765870707
CDS Mutation	c.8500G>A
AA Mutation	p.Gly2834Arg(p.G2834R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113019090:113019090(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756292276
CDS Mutation	c.1007G>A
AA Mutation	p.Arg336His(p.R336H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112289455:112289455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9058T>C
AA Mutation	p.Ser3020Pro(p.S3020P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112306131:112306131(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7947G>T
AA Mutation	p.Leu2649Phe(p.L2649F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112408996:112408996(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5432T>C
AA Mutation	p.Leu1811Pro(p.L1811P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113436806:113436806(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.49T>A
AA Mutation	p.Trp17Arg(p.W17R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113173848:113173848(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774621721
CDS Mutation	c.583G>A
AA Mutation	p.Asp195Asn(p.D195N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112921677:112921677(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779272178
CDS Mutation	c.1583G>A
AA Mutation	p.Arg528Gln(p.R528Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113436694:113436694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.161C>T
AA Mutation	p.Thr54Met(p.T54M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112301814:112301814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765143806
CDS Mutation	c.8419G>A
AA Mutation	p.Glu2807Lys(p.E2807K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112313926:112313926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7676G>A
AA Mutation	p.Gly2559Asp(p.G2559D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112517067:112517067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4723T>C
AA Mutation	p.Tyr1575His(p.Y1575H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112517096:112517096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4694G>T
AA Mutation	p.Arg1565Ile(p.R1565I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112638867:112638867(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3355G>A
AA Mutation	p.Asp1119Asn(p.D1119N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112337654:112337654(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6730C>A
AA Mutation	p.Gln2244Lys(p.Q2244K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112287114:112287114(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9281G>T
AA Mutation	p.Arg3094Ile(p.R3094I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112306108:112306108(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7970T>C
AA Mutation	p.Phe2657Ser(p.F2657S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112314550:112314550(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7428C>G
AA Mutation	p.Asp2476Glu(p.D2476E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112408944:112408944(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5484A>C
AA Mutation	p.Leu1828Phe(p.L1828F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112503898:112503898(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4975C>A
AA Mutation	p.Gln1659Lys(p.Q1659K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112645220:112645220(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3199T>C
AA Mutation	p.Cys1067Arg(p.C1067R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112650281:112650281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3073G>T
AA Mutation	p.Asp1025Tyr(p.D1025Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112975845:112975845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1334C>T
AA Mutation	p.Thr445Ile(p.T445I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113019096:113019096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755471454
CDS Mutation	c.1001G>A
AA Mutation	p.Arg334Gln(p.R334Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113314667:113314667(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776529077
CDS Mutation	c.305G>T
AA Mutation	p.Arg102Ile(p.R102I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113436747:113436747(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.108G>T
AA Mutation	p.Lys36Asn(p.K36N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112281206:112281206(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9476G>T
AA Mutation	p.Gly3159Val(p.G3159V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112337584:112337584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6800G>A
AA Mutation	p.Gly2267Glu(p.G2267E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112552637:112552637(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375743688
CDS Mutation	c.4318C>T
AA Mutation	p.Arg1440Cys(p.R1440C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112645161:112645161(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3258T>G
AA Mutation	p.Phe1086Leu(p.F1086L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112800252:112800252(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1882G>T
AA Mutation	p.Asp628Tyr(p.D628Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113098803:113098803(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.870G>T
AA Mutation	p.Glu290Asp(p.E290D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112265503:112265503(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9596G>T
AA Mutation	p.Cys3199Phe(p.C3199F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112573600:112573600(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3943A>C
AA Mutation	p.Met1315Leu(p.M1315L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112319924:112319924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370458785
CDS Mutation	c.7223C>T
AA Mutation	p.Thr2408Met(p.T2408M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112352524:112352524(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6147G>C
AA Mutation	p.Leu2049Phe(p.L2049F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112228825:112228825(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10895C>T
AA Mutation	p.Ala3632Val(p.A3632V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112341521:112341521(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6608G>A
AA Mutation	p.Ser2203Asn(p.S2203N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	89
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113098905:113098905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.768T>G
AA Mutation	p.Ser256Arg(p.S256R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	90
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112383583:112383583(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6015A>C
AA Mutation	p.Arg2005Ser(p.R2005S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	91
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112335354:112335354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7140T>G
AA Mutation	p.Ser2380Arg(p.S2380R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	92
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112255407:112255407(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9883G>T
AA Mutation	p.Gly3295Cys(p.G3295C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	93
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112234433:112234433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10672C>T
AA Mutation	p.Leu3558Phe(p.L3558F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	94
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112311130:112311130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7733G>A
AA Mutation	p.Gly2578Glu(p.G2578E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	95
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112685602:112685602(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2286T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	96
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112685506:112685506(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2382T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	97
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112975897:112975897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1282A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	98
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	113173849:113173849(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762199137
CDS Mutation	c.582C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	99
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112304725:112304725(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8262C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	100
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112291616:112291616(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8868C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	101
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112224789:112224789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755097432
CDS Mutation	c.11106G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	102
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112975928:112975928(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1251T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	103
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112306035:112306035(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8043C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	104
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112335444:112335444(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142588028
CDS Mutation	c.7050C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	105
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112492619:112492619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5148T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	106
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	113098863:113098863(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.810C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	107
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112550813:112550813(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4422T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	108
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112636971:112636971(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3561T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	109
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112556923:112556923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4074C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	110
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	113278659:113278659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.447T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	111
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112224840:112224840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760587971
CDS Mutation	c.11055C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	112
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112829727:112829727(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373699127
CDS Mutation	c.1818C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	113
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112244416:112244416(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10380T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	114
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112335450:112335450(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7044T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	115
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112408941:112408941(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5487T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	116
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112645185:112645185(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3234C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	117
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112352494:112352494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6177C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	118
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112224897:112224897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10998A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	119
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112573558:112573558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3985C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	120
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112292580:112292580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139968307
CDS Mutation	c.8745C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	121
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112492598:112492598(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5169C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	122
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112241727:112241727(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10461G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	123
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112689992:112689992(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767936369
CDS Mutation	c.2031C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	124
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	113436711:113436711(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781294011
CDS Mutation	c.144C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	125
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112306023:112306023(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8055G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	126
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112517053:112517053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770611555
CDS Mutation	c.4737C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	127
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112304776:112304776(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141863300
CDS Mutation	c.8211C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	128
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112573544:112573544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148941521
CDS Mutation	c.3999C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	129
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000297405
Start	113314651:113314651(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.321delT
AA Mutation	p.Gln108SerfsTer5(p.Q108Sfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	130
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000297405
Start	112228800:112228800(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs766438669
CDS Mutation	c.10920delT
AA Mutation	p.Phe3640LeufsTer61(p.F3640Lfs*61)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	131
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000297405
Start	112341560:112341560(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.6569delT
AA Mutation	p.Leu2190TyrfsTer46(p.L2190Yfs*46)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	132
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112306076:112306076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8002G>T
AA Mutation	p.Glu2668Ter(p.E2668*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	133
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	113436803:113436803(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.52G>T
AA Mutation	p.Glu18Ter(p.E18*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	134
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112337693:112337693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751474008
CDS Mutation	c.6691C>T
AA Mutation	p.Arg2231Ter(p.R2231*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	135
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112685641:112685641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2247G>A
AA Mutation	p.Trp749Ter(p.W749*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	136
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112292603:112292603(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8722C>T
AA Mutation	p.Gln2908Ter(p.Q2908*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	137
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112503871:112503871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5002G>T
AA Mutation	p.Glu1668Ter(p.E1668*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	138
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112689997:112689997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2026G>T
AA Mutation	p.Glu676Ter(p.E676*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	139
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112341543:112341543(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6586G>T
AA Mutation	p.Glu2196Ter(p.E2196*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	140
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000297405
Start	112408411:112408411(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5512G>T
AA Mutation	p.Glu1838Ter(p.E1838*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	141
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112975968:112975968(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1211C>G
AA Mutation	p.Ser404Ter(p.S404*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	142
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000297405
Start	112228799:112228800(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.10920dupT
AA Mutation	p.Ala3641CysfsTer13(p.A3641Cfs*13)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	143
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000297405
Start	112287208:112287209(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.9186dupC
AA Mutation	p.Gly3063ArgfsTer5(p.G3063Rfs*5)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	144
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000297405
Start	112314002:112314003(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.7599_7600insATAGTGTC
AA Mutation	p.Ser2534IlefsTer8(p.S2534Ifs*8)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	145
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000297405
Start	112976042:112976043(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1136_1137insTCTTTCT
AA Mutation	p.Ser380LeufsTer12(p.S380Lfs*12)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	146
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000297405
Start	112295832:112295832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8614+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	147
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000297405
Start	112352536:112352536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6137-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	148
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000297405
Start	112976044:112976045(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1134_1135insTTA
AA Mutation	p.Thr378_Val379insLeu(p.T378_V379insL)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> CSMD3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112281302:112281302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752773200
CDS Mutation	c.9380G>A
AA Mutation	p.Arg3127Gln(p.R3127Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112314469:112314469(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7509C>A
AA Mutation	p.Phe2503Leu(p.F2503L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000297405
Start	112296006:112296006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8441C>A
AA Mutation	p.Ala2814Glu(p.A2814E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112636936:112636936(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3596G>A
AA Mutation	p.Gly1199Glu(p.G1199E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112255389:112255389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9901A>C
AA Mutation	p.Lys3301Gln(p.K3301Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112638749:112638749(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756700595
CDS Mutation	c.3473G>A
AA Mutation	p.Arg1158His(p.R1158H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112265533:112265533(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149028950
CDS Mutation	c.9566A>T
AA Mutation	p.Tyr3189Phe(p.Y3189F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112638788:112638788(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3434T>A
AA Mutation	p.Ile1145Asn(p.I1145N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112650334:112650334(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3020C>G
AA Mutation	p.Thr1007Arg(p.T1007R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112636954:112636954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3578G>A
AA Mutation	p.Arg1193Gln(p.R1193Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112975960:112975960(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1219G>A
AA Mutation	p.Asp407Asn(p.D407N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113314709:113314709(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.263G>T
AA Mutation	p.Gly88Val(p.G88V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112228798:112228798(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10922C>A
AA Mutation	p.Ala3641Glu(p.A3641E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112263722:112263722(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9779C>A
AA Mutation	p.Ser3260Tyr(p.S3260Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112311086:112311086(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7777C>A
AA Mutation	p.Arg2593Ser(p.R2593S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112552643:112552643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4312A>G
AA Mutation	p.Asn1438Asp(p.N1438D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112281273:112281273(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9409G>T
AA Mutation	p.Val3137Phe(p.V3137F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112336749:112336749(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6922G>T
AA Mutation	p.Asp2308Tyr(p.D2308Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112573596:112573596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770733898
CDS Mutation	c.3947G>A
AA Mutation	p.Arg1316His(p.R1316H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112255397:112255397(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774388897
CDS Mutation	c.9893C>T
AA Mutation	p.Ala3298Val(p.A3298V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112291659:112291659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8825C>A
AA Mutation	p.Ser2942Tyr(p.S2942Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112352481:112352481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6190A>C
AA Mutation	p.Ile2064Leu(p.I2064L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113019100:113019100(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.997C>A
AA Mutation	p.His333Asn(p.H333N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113436747:113436747(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.108G>T
AA Mutation	p.Lys36Asn(p.K36N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112517204:112517204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138068999
CDS Mutation	c.4586G>A
AA Mutation	p.Arg1529His(p.R1529H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	113173849:113173849(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762199137
CDS Mutation	c.582C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112234383:112234383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10722T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112556833:112556833(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140111920
CDS Mutation	c.4164C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112237230:112237230(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753532523
CDS Mutation	c.10587C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112638871:112638871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3351T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112921700:112921700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377399711
CDS Mutation	c.1560C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112336744:112336744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6927T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112552677:112552677(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4278C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000297405
Start	112314052:112314052(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.7550delG
AA Mutation	p.Gly2517AspfsTer22(p.G2517Dfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000297405
Start	112228757:112228757(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.10963delA
AA Mutation	p.Arg3655GlyfsTer46(p.R3655Gfs*46)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000297405
Start	112947817:112947817(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1481delA
AA Mutation	p.Asn494MetfsTer36(p.N494Mfs*36)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112517106:112517106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4684G>T
AA Mutation	p.Gly1562Ter(p.G1562*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript