Colon Cancer: Gene >> CSMD1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2999978:2999978(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8186G>A
AA Mutation	p.Gly2729Glu(p.G2729E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3110236:3110236(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762177917
CDS Mutation	c.6533C>T
AA Mutation	p.Thr2178Met(p.T2178M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3188894:3188894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5519G>A
AA Mutation	p.Gly1840Glu(p.G1840E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3087229:3087229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774707047
CDS Mutation	c.7345G>T
AA Mutation	p.Ala2449Ser(p.A2449S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2957747:2957747(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9766C>T
AA Mutation	p.Arg3256Cys(p.R3256C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2965901:2965901(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753656504
CDS Mutation	c.9157G>A
AA Mutation	p.Asp3053Asn(p.D3053N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3052558:3052558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7567C>A
AA Mutation	p.His2523Asn(p.H2523N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3118407:3118407(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6425G>T
AA Mutation	p.Arg2142Ile(p.R2142I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3998034:3998034(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.687G>T
AA Mutation	p.Glu229Asp(p.E229D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	4031991:4031991(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs530553387
CDS Mutation	c.524A>G
AA Mutation	p.Tyr175Cys(p.Y175C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3308498:3308498(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3640G>T
AA Mutation	p.Asp1214Tyr(p.D1214Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000520002
Start	2938742:2938742(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10541C>T
AA Mutation	p.Thr3514Met(p.T3514M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3188961:3188961(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769067339
CDS Mutation	c.5452G>A
AA Mutation	p.Gly1818Ser(p.G1818S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3308485:3308485(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3653G>A
AA Mutation	p.Cys1218Tyr(p.C1218Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3190112:3190112(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5201T>G
AA Mutation	p.Val1734Gly(p.V1734G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3214626:3214626(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4741T>G
AA Mutation	p.Phe1581Val(p.F1581V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3399454:3399454(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766601526
CDS Mutation	c.2345C>A
AA Mutation	p.Ser782Tyr(p.S782Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3199788:3199788(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763081825
CDS Mutation	c.5123C>T
AA Mutation	p.Thr1708Met(p.T1708M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2978774:2978774(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8407G>T
AA Mutation	p.Val2803Leu(p.V2803L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2978694:2978694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8487G>T
AA Mutation	p.Lys2829Asn(p.K2829N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3118431:3118431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6401G>T
AA Mutation	p.Arg2134Ile(p.R2134I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3708431:3708431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.992G>A
AA Mutation	p.Ser331Asn(p.S331N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2998052:2998052(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778214225
CDS Mutation	c.8339G>A
AA Mutation	p.Arg2780Gln(p.R2780Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3219327:3219327(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774972354
CDS Mutation	c.4603G>A
AA Mutation	p.Gly1535Arg(p.G1535R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3142594:3142594(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6115A>G
AA Mutation	p.Ser2039Gly(p.S2039G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3223750:3223750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4466T>C
AA Mutation	p.Val1489Ala(p.V1489A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3308447:3308447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3691C>T
AA Mutation	p.Arg1231Cys(p.R1231C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3369295:3369295(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2861C>A
AA Mutation	p.Ser954Tyr(p.S954Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	4637427:4637427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.217T>C
AA Mutation	p.Ser73Pro(p.S73P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2966609:2966609(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9064G>T
AA Mutation	p.Ala3022Ser(p.A3022S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3181194:3181194(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5644C>A
AA Mutation	p.Leu1882Met(p.L1882M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2951255:2951255(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202012312
CDS Mutation	c.10063G>A
AA Mutation	p.Val3355Ile(p.V3355I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2955732:2955732(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs534317062
CDS Mutation	c.9854C>T
AA Mutation	p.Ala3285Val(p.A3285V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3369289:3369289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2867A>G
AA Mutation	p.Asn956Ser(p.N956S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000520002
Start	3708414:3708414(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1009T>A
AA Mutation	p.Leu337Met(p.L337M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3406143:3406143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2153G>A
AA Mutation	p.Ser718Asn(p.S718N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3387625:3387625(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771698528
CDS Mutation	c.2654G>A
AA Mutation	p.Arg885His(p.R885H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2955687:2955687(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9899T>G
AA Mutation	p.Val3300Gly(p.V3300G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2955700:2955700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757638862
CDS Mutation	c.9886G>A
AA Mutation	p.Gly3296Ser(p.G3296S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3052545:3052545(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7580A>C
AA Mutation	p.Lys2527Thr(p.K2527T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3087171:3087171(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7403G>A
AA Mutation	p.Gly2468Asp(p.G2468D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3998027:3998027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.694G>A
AA Mutation	p.Ala232Thr(p.A232T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3409477:3409477(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1693G>T
AA Mutation	p.Val565Phe(p.V565F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3091551:3091551(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7253C>T
AA Mutation	p.Ala2418Val(p.A2418V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3387589:3387589(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2690C>T
AA Mutation	p.Thr897Ile(p.T897I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3087144:3087144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7430A>C
AA Mutation	p.Asn2477Thr(p.N2477T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3223841:3223841(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4375C>A
AA Mutation	p.Pro1459Thr(p.P1459T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3162234:3162234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5772C>G
AA Mutation	p.Asn1924Lys(p.N1924K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3343423:3343423(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs562188878
CDS Mutation	c.3505C>T
AA Mutation	p.Arg1169Cys(p.R1169C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3359167:3359167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3292C>A
AA Mutation	p.Leu1098Met(p.L1098M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3753942:3753942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368828677
CDS Mutation	c.919G>A
AA Mutation	p.Ala307Thr(p.A307T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3181115:3181115(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5723A>G
AA Mutation	p.Tyr1908Cys(p.Y1908C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3408147:3408147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1826T>C
AA Mutation	p.Met609Thr(p.M609T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3708474:3708474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.949T>G
AA Mutation	p.Leu317Val(p.L317V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3308446:3308446(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370069615
CDS Mutation	c.3692G>A
AA Mutation	p.Arg1231His(p.R1231H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3110204:3110204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6565T>G
AA Mutation	p.Phe2189Val(p.F2189V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	4637466:4637466(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.178T>A
AA Mutation	p.Trp60Arg(p.W60R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2962598:2962598(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9499C>T
AA Mutation	p.Leu3167Phe(p.L3167F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3307717:3307717(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3931G>T
AA Mutation	p.Ala1311Ser(p.A1311S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3189980:3189980(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs535341069
CDS Mutation	c.5333C>T
AA Mutation	p.Thr1778Met(p.T1778M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2998091:2998091(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs546161313
CDS Mutation	c.8300C>T
AA Mutation	p.Thr2767Met(p.T2767M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3188910:3188910(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5503G>A
AA Mutation	p.Val1835Ile(p.V1835I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3108690:3108690(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754304316
CDS Mutation	c.6670G>A
AA Mutation	p.Glu2224Lys(p.E2224K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3142555:3142555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373726648
CDS Mutation	c.6154G>A
AA Mutation	p.Ala2052Thr(p.A2052T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3359178:3359178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3281G>T
AA Mutation	p.Trp1094Leu(p.W1094L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2957712:2957712(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9801A>G
AA Mutation	p.Ile3267Met(p.I3267M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3151475:3151475(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5956A>G
AA Mutation	p.Ile1986Val(p.I1986V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3214575:3214575(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4792C>A
AA Mutation	p.Leu1598Ile(p.L1598I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3223807:3223807(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4409A>G
AA Mutation	p.Gln1470Arg(p.Q1470R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3359235:3359235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3224G>A
AA Mutation	p.Gly1075Glu(p.G1075E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3753959:3753959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs573237339
CDS Mutation	c.902G>A
AA Mutation	p.Arg301Gln(p.R301Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3018620:3018620(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7889C>A
AA Mutation	p.Pro2630Gln(p.P2630Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3409506:3409506(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1664C>A
AA Mutation	p.Pro555Gln(p.P555Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3205588:3205588(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4903G>T
AA Mutation	p.Gly1635Trp(p.G1635W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3199767:3199767(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747749324
CDS Mutation	c.5144G>A
AA Mutation	p.Arg1715Gln(p.R1715Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3230208:3230208(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4180G>A
AA Mutation	p.Asp1394Asn(p.D1394N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3586217:3586217(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759635914
CDS Mutation	c.1144C>T
AA Mutation	p.Leu382Phe(p.L382F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3157927:3157927(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5887C>T
AA Mutation	p.Arg1963Cys(p.R1963C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3201720:3201720(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4993T>A
AA Mutation	p.Phe1665Ile(p.F1665I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3343437:3343437(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3491A>C
AA Mutation	p.Lys1164Thr(p.K1164T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3387554:3387554(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2725G>A
AA Mutation	p.Asp909Asn(p.D909N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3369262:3369262(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2894A>G
AA Mutation	p.His965Arg(p.H965R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2978759:2978759(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs267601889
CDS Mutation	c.8422C>T
AA Mutation	p.Arg2808Cys(p.R2808C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3118527:3118527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6305C>T
AA Mutation	p.Ser2102Leu(p.S2102L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3052594:3052594(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs532940488
CDS Mutation	c.7531G>A
AA Mutation	p.Glu2511Lys(p.E2511K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3230180:3230180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4208G>A
AA Mutation	p.Arg1403His(p.R1403H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3157911:3157911(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5903C>T
AA Mutation	p.Ser1968Phe(p.S1968F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3181133:3181133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5705C>T
AA Mutation	p.Ala1902Val(p.A1902V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	89
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3387497:3387497(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779007112
CDS Mutation	c.2782G>A
AA Mutation	p.Asp928Asn(p.D928N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	90
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2973125:2973125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8918T>C
AA Mutation	p.Val2973Ala(p.V2973A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	91
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3018581:3018581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778074048
CDS Mutation	c.7928C>T
AA Mutation	p.Ala2643Val(p.A2643V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	92
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3367142:3367142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3008C>T
AA Mutation	p.Ser1003Leu(p.S1003L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	93
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3396312:3396312(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774181273
CDS Mutation	c.2478C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	94
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3409508:3409508(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757531146
CDS Mutation	c.1662C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	95
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2963364:2963364(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9315G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	96
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3106532:3106532(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6948T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	97
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3162201:3162201(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374441217
CDS Mutation	c.5805C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	98
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3284328:3284328(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3972C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	99
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2973190:2973190(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8853C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	100
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3162258:3162258(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5748C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	101
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2999977:2999977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8187A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	102
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3408218:3408218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1755T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	103
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2955701:2955701(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781556274
CDS Mutation	c.9885C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	104
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3409568:3409568(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775892572
CDS Mutation	c.1602C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	105
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3493676:3493676(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1398C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	106
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	4994408:4994408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	107
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3018598:3018598(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374916113
CDS Mutation	c.7911G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	108
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3998055:3998055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.666G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	109
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3199724:3199724(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758410432
CDS Mutation	c.5187C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	110
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3998082:3998082(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777613399
CDS Mutation	c.639C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	111
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2951139:2951139(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10179C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	112
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3052475:3052475(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7650G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	113
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3997941:3997941(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.780T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	114
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3308391:3308391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs565627705
CDS Mutation	c.3747C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	115
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3367057:3367057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367552614
CDS Mutation	c.3093C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	116
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	4994357:4994357(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.60C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	117
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3201649:3201649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5064G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	118
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	4637377:4637377(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375942865
CDS Mutation	c.267C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	119
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3348052:3348052(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374314633
CDS Mutation	c.3417C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	120
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3000013:3000013(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs185898018
CDS Mutation	c.8151C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	121
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3214504:3214504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4863C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	122
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3284289:3284289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779152958
CDS Mutation	c.4011C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	123
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2950240:2950240(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10308A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	124
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2962527:2962527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9570A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	125
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3107725:3107725(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371661443
CDS Mutation	c.6831C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	126
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3406067:3406067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751069597
CDS Mutation	c.2229C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	127
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3189961:3189961(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs539146933
CDS Mutation	c.5352C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	128
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3108643:3108643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369976310
CDS Mutation	c.6717C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	129
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3468755:3468755(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs536408683
CDS Mutation	c.1521G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	130
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3087221:3087221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs189926727
CDS Mutation	c.7353G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	131
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3223746:3223746(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777514021
CDS Mutation	c.4470C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	132
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2938642:2938642(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10641A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	133
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3052613:3052613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs560104234
CDS Mutation	c.7512C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	134
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3189952:3189952(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs34443453
CDS Mutation	c.5361C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	135
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000520002
Start	3223840:3223840(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4376delC
AA Mutation	p.Pro1459GlnfsTer24(p.P1459Qfs*24)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	136
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000520002
Start	3708485:3708485(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.938delA
AA Mutation	p.Lys313ArgfsTer5(p.K313Rfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	137
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	3157901:3157901(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5913C>A
AA Mutation	p.Cys1971Ter(p.C1971*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	138
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	2951228:2951228(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10090G>T
AA Mutation	p.Glu3364Ter(p.E3364*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	139
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	3753951:3753951(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.910G>T
AA Mutation	p.Gly304Ter(p.G304*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	140
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	3753960:3753960(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.901C>T
AA Mutation	p.Arg301Ter(p.R301*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	141
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	2978637:2978637(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8544G>A
AA Mutation	p.Trp2848Ter(p.W2848*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	142
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	2998149:2998149(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8242G>T
AA Mutation	p.Gly2748Ter(p.G2748*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	143
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	2978675:2978675(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8506G>T
AA Mutation	p.Gly2836Ter(p.G2836*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	144
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	3367107:3367107(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3043G>T
AA Mutation	p.Gly1015Ter(p.G1015*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	145
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	2938704:2938704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10579G>T
AA Mutation	p.Glu3527Ter(p.E3527*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	146
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	3029322:3029322(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766376387
CDS Mutation	c.7855C>T
AA Mutation	p.Arg2619Ter(p.R2619*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	147
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000520002
Start	3205505:3205506(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.4985dupT
AA Mutation	p.Val1663ArgfsTer15(p.V1663Rfs*15)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	148
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000520002
Start	3396347:3396348(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2442_2443insCTGTT
AA Mutation	p.Val815LeufsTer13(p.V815Lfs*13)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	149
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000520002
Start	2999956:2999956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8206+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> CSMD1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	4420000:4420000(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781692154
CDS Mutation	c.368C>T
AA Mutation	p.Thr123Met(p.T123M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2961191:2961191(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9655G>A
AA Mutation	p.Asp3219Asn(p.D3219N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3108642:3108642(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779137794
CDS Mutation	c.6718G>A
AA Mutation	p.Asp2240Asn(p.D2240N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3188984:3188984(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770980133
CDS Mutation	c.5429G>A
AA Mutation	p.Arg1810Gln(p.R1810Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3367061:3367061(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773842728
CDS Mutation	c.3089C>T
AA Mutation	p.Ser1030Leu(p.S1030L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3468756:3468756(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1520C>T
AA Mutation	p.Ser507Leu(p.S507L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3387512:3387512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771033685
CDS Mutation	c.2767G>A
AA Mutation	p.Ala923Thr(p.A923T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3998081:3998081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.640G>A
AA Mutation	p.Gly214Arg(p.G214R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2965832:2965832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755172128
CDS Mutation	c.9226G>A
AA Mutation	p.Ala3076Thr(p.A3076T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2938682:2938682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764398530
CDS Mutation	c.10601C>T
AA Mutation	p.Ser3534Leu(p.S3534L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2950236:2950236(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10312G>A
AA Mutation	p.Gly3438Ser(p.G3438S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3348053:3348053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3416C>T
AA Mutation	p.Ala1139Val(p.A1139V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3399448:3399448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2351A>T
AA Mutation	p.His784Leu(p.H784L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2951270:2951270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10048T>C
AA Mutation	p.Ser3350Pro(p.S3350P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3230180:3230180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4208G>A
AA Mutation	p.Arg1403His(p.R1403H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000520002
Start	2955591:2955591(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9995A>T
AA Mutation	p.Lys3332Ile(p.K3332I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3348084:3348084(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776072371
CDS Mutation	c.3385C>A
AA Mutation	p.His1129Asn(p.H1129N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3018572:3018572(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7937T>C
AA Mutation	p.Ile2646Thr(p.I2646T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3408088:3408088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1885G>T
AA Mutation	p.Asp629Tyr(p.D629Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3406192:3406192(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2104G>T
AA Mutation	p.Gly702Cys(p.G702C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2965796:2965796(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9262C>T
AA Mutation	p.Pro3088Ser(p.P3088S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	2962486:2962486(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9611G>A
AA Mutation	p.Gly3204Asp(p.G3204D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3142500:3142500(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755657382
CDS Mutation	c.6209C>T
AA Mutation	p.Ser2070Leu(p.S2070L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3754020:3754020(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.841T>C
AA Mutation	p.Ser281Pro(p.S281P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3157926:3157926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5888G>A
AA Mutation	p.Arg1963His(p.R1963H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3396235:3396235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2555A>G
AA Mutation	p.Asp852Gly(p.D852G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000520002
Start	3162200:3162200(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5806G>A
AA Mutation	p.Asp1936Asn(p.D1936N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3087113:3087113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7461C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3367147:3367147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751657255
CDS Mutation	c.3003C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3399504:3399504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374326454
CDS Mutation	c.2295G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3369345:3369345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372695718
CDS Mutation	c.2811G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3387624:3387624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2655C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3753943:3753943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371487624
CDS Mutation	c.918C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	4637548:4637548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.96T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3106541:3106541(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6939C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	2974587:2974587(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779219870
CDS Mutation	c.8607C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3387633:3387633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370427726
CDS Mutation	c.2646C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000520002
Start	3000019:3000019(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8145A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	3406174:3406174(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2122C>T
AA Mutation	p.Arg708Ter(p.R708*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	3029493:3029493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7684G>T
AA Mutation	p.Glu2562Ter(p.E2562*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	stop_gained
Transcription ID	ENST00000520002
Start	3997955:3997955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.766G>T
AA Mutation	p.Glu256Ter(p.E256*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000520002
Start	3052461:3052461(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7663+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript