Colon Cancer: Gene >> OBSCN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228288859:228288859(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10310A>C
AA Mutation	p.Glu3437Ala(p.E3437A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228211914:228211914(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.131A>T
AA Mutation	p.Glu44Val(p.E44V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228309541:228309541(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12994G>A
AA Mutation	p.Ala4332Thr(p.A4332T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228368771:228368771(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19817G>A
AA Mutation	p.Cys6606Tyr(p.C6606Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228286902:228286902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754103170
CDS Mutation	c.9407G>A
AA Mutation	p.Arg3136Gln(p.R3136Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228273786:228273786(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5154T>G
AA Mutation	p.Ile1718Met(p.I1718M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228287787:228287787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375877740
CDS Mutation	c.9638C>T
AA Mutation	p.Ala3213Val(p.A3213V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228307053:228307053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12079G>A
AA Mutation	p.Val4027Met(p.V4027M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228280416:228280416(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7901T>C
AA Mutation	p.Val2634Ala(p.V2634A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228315964:228315964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13130A>T
AA Mutation	p.Asp4377Val(p.D4377V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228250214:228250214(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758707780
CDS Mutation	c.4283G>A
AA Mutation	p.Arg1428Gln(p.R1428Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228246684:228246684(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764909100
CDS Mutation	c.3914G>A
AA Mutation	p.Arg1305His(p.R1305H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228293548:228293548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11063C>A
AA Mutation	p.Ala3688Glu(p.A3688E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228215757:228215757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750877628
CDS Mutation	c.2023G>A
AA Mutation	p.Ala675Thr(p.A675T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228274015:228274015(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745536999
CDS Mutation	c.5383G>A
AA Mutation	p.Ala1795Thr(p.A1795T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228281939:228281939(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8204A>G
AA Mutation	p.His2735Arg(p.H2735R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228293388:228293388(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767672591
CDS Mutation	c.10903G>A
AA Mutation	p.Glu3635Lys(p.E3635K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228370743:228370743(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749702058
CDS Mutation	c.20231G>A
AA Mutation	p.Arg6744Gln(p.R6744Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228377571:228377571(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.23362C>A
AA Mutation	p.Leu7788Met(p.L7788M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228280075:228280075(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7651G>A
AA Mutation	p.Val2551Ile(p.V2551I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228321863:228321863(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750047152
CDS Mutation	c.15022C>T
AA Mutation	p.Arg5008Cys(p.R5008C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228280257:228280257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7742T>C
AA Mutation	p.Leu2581Pro(p.L2581P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000422127
Start	228371023:228371023(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.20245C>T
AA Mutation	p.Arg6749Cys(p.R6749C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228276533:228276533(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6304C>T
AA Mutation	p.His2102Tyr(p.H2102Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228277835:228277835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6836C>T
AA Mutation	p.Ser2279Leu(p.S2279L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228279904:228279904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7480C>T
AA Mutation	p.Pro2494Ser(p.P2494S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228322032:228322032(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs56359770
CDS Mutation	c.15191C>T
AA Mutation	p.Ala5064Val(p.A5064V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228283676:228283676(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8911C>T
AA Mutation	p.Arg2971Trp(p.R2971W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228276701:228276701(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772147171
CDS Mutation	c.6472C>T
AA Mutation	p.Arg2158Trp(p.R2158W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000422127
Start	228280796:228280796(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750221763
CDS Mutation	c.8197G>A
AA Mutation	p.Asp2733Asn(p.D2733N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228350897:228350897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs151074400
CDS Mutation	c.18373G>A
AA Mutation	p.Ala6125Thr(p.A6125T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228216529:228216529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2204C>T
AA Mutation	p.Ala735Val(p.A735V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228279908:228279908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7484C>T
AA Mutation	p.Ala2495Val(p.A2495V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228308282:228308282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs56306215
CDS Mutation	c.12638G>A
AA Mutation	p.Arg4213His(p.R4213H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228294842:228294842(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371818048
CDS Mutation	c.11458G>A
AA Mutation	p.Val3820Met(p.V3820M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228224557:228224557(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2752C>A
AA Mutation	p.Gln918Lys(p.Q918K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228212102:228212102(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.319G>A
AA Mutation	p.Glu107Lys(p.E107K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228217140:228217140(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2505G>A
AA Mutation	p.Met835Ile(p.M835I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228279195:228279195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7147C>T
AA Mutation	p.Arg2383Trp(p.R2383W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228224470:228224470(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2665G>T
AA Mutation	p.Val889Leu(p.V889L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228286793:228286793(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370983481
CDS Mutation	c.9298C>T
AA Mutation	p.Arg3100Trp(p.R3100W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228273922:228273922(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5290C>T
AA Mutation	p.Arg1764Trp(p.R1764W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228293538:228293538(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11053G>A
AA Mutation	p.Gly3685Ser(p.G3685S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228217150:228217150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2515C>G
AA Mutation	p.His839Asp(p.H839D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228246695:228246695(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768014393
CDS Mutation	c.3925G>A
AA Mutation	p.Ala1309Thr(p.A1309T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228350849:228350849(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs542213579
CDS Mutation	c.18325C>T
AA Mutation	p.Arg6109Trp(p.R6109W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228292065:228292065(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10507T>A
AA Mutation	p.Cys3503Ser(p.C3503S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228316924:228316924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13501G>A
AA Mutation	p.Ala4501Thr(p.A4501T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000422127
Start	228365560:228365560(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs529666963
CDS Mutation	c.19063C>T
AA Mutation	p.Arg6355Trp(p.R6355W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228244398:228244398(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs550229754
CDS Mutation	c.3308C>T
AA Mutation	p.Thr1103Met(p.T1103M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228319076:228319076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14324C>T
AA Mutation	p.Ala4775Val(p.A4775V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228338137:228338137(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.16994G>T
AA Mutation	p.Arg5665Met(p.R5665M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228319232:228319232(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14480G>A
AA Mutation	p.Gly4827Asp(p.G4827D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228376852:228376852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748029318
CDS Mutation	c.23017G>A
AA Mutation	p.Ala7673Thr(p.A7673T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228275940:228275940(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6134T>C
AA Mutation	p.Val2045Ala(p.V2045A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228294879:228294879(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11495A>G
AA Mutation	p.Glu3832Gly(p.E3832G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228274427:228274427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752268935
CDS Mutation	c.5666C>T
AA Mutation	p.Ala1889Val(p.A1889V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228216604:228216604(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs180689095
CDS Mutation	c.2279G>A
AA Mutation	p.Arg760Gln(p.R760Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228286914:228286914(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9419G>T
AA Mutation	p.Arg3140Leu(p.R3140L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228335253:228335253(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.16360G>A
AA Mutation	p.Ala5454Thr(p.A5454T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228287705:228287705(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768540955
CDS Mutation	c.9556C>T
AA Mutation	p.Arg3186Trp(p.R3186W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228294977:228294977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11593G>A
AA Mutation	p.Ala3865Thr(p.A3865T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228256900:228256900(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377740226
CDS Mutation	c.4559G>A
AA Mutation	p.Arg1520Gln(p.R1520Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228212030:228212030(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.247C>T
AA Mutation	p.Arg83Cys(p.R83C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228212732:228212732(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768324296
CDS Mutation	c.949G>A
AA Mutation	p.Val317Met(p.V317M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228372086:228372086(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.21308T>C
AA Mutation	p.Ile7103Thr(p.I7103T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228280410:228280410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7895T>C
AA Mutation	p.Leu2632Pro(p.L2632P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228294283:228294283(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11263G>A
AA Mutation	p.Gly3755Arg(p.G3755R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228287892:228287892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772338853
CDS Mutation	c.9743C>T
AA Mutation	p.Pro3248Leu(p.P3248L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228372772:228372772(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.21994G>T
AA Mutation	p.Ala7332Ser(p.A7332S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228212647:228212647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.864G>T
AA Mutation	p.Glu288Asp(p.E288D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228283189:228283189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8642C>T
AA Mutation	p.Ala2881Val(p.A2881V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228212549:228212549(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754387603
CDS Mutation	c.766C>T
AA Mutation	p.Arg256Cys(p.R256C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228288718:228288718(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10169C>A
AA Mutation	p.Pro3390His(p.P3390H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228283141:228283141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8594C>T
AA Mutation	p.Ala2865Val(p.A2865V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000422127
Start	228316117:228316117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761455138
CDS Mutation	c.13283G>A
AA Mutation	p.Arg4428Gln(p.R4428Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228321876:228321876(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781337790
CDS Mutation	c.15035G>A
AA Mutation	p.Arg5012His(p.R5012H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228377164:228377164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs562611975
CDS Mutation	c.23152G>A
AA Mutation	p.Glu7718Lys(p.E7718K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228339974:228339974(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201372419
CDS Mutation	c.17288C>T
AA Mutation	p.Thr5763Met(p.T5763M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228256753:228256753(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771717556
CDS Mutation	c.4412C>T
AA Mutation	p.Thr1471Met(p.T1471M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228288177:228288177(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9928G>A
AA Mutation	p.Glu3310Lys(p.E3310K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228321756:228321756(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14915A>G
AA Mutation	p.Gln4972Arg(p.Q4972R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228378713:228378713(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.23825C>T
AA Mutation	p.Ala7942Val(p.A7942V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228292577:228292577(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10658C>T
AA Mutation	p.Ala3553Val(p.A3553V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228316870:228316870(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13447A>G
AA Mutation	p.Thr4483Ala(p.T4483A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228371735:228371735(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.20957C>T
AA Mutation	p.Pro6986Leu(p.P6986L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228321878:228321878(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199935165
CDS Mutation	c.15037C>T
AA Mutation	p.Arg5013Trp(p.R5013W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228306399:228306399(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11687T>A
AA Mutation	p.Leu3896Gln(p.L3896Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	89
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228376134:228376134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.22913G>A
AA Mutation	p.Ser7638Asn(p.S7638N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	90
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228315904:228315904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775800297
CDS Mutation	c.13070C>T
AA Mutation	p.Ala4357Val(p.A4357V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	91
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228215787:228215787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2053G>A
AA Mutation	p.Val685Met(p.V685M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	92
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228243348:228243348(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3095C>T
AA Mutation	p.Ala1032Val(p.A1032V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	93
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228306904:228306904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760746910
CDS Mutation	c.11930C>T
AA Mutation	p.Ala3977Val(p.A3977V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	94
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228274252:228274252(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771065000
CDS Mutation	c.5491G>A
AA Mutation	p.Glu1831Lys(p.E1831K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	95
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228278851:228278851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7022G>A
AA Mutation	p.Gly2341Asp(p.G2341D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	96
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228211854:228211854(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.71G>A
AA Mutation	p.Gly24Asp(p.G24D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	97
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228362644:228362644(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.18730C>T
AA Mutation	p.Pro6244Ser(p.P6244S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	98
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228274286:228274286(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5525G>A
AA Mutation	p.Arg1842His(p.R1842H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	99
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228292651:228292651(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10732G>A
AA Mutation	p.Asp3578Asn(p.D3578N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	100
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228294239:228294239(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374797523
CDS Mutation	c.11219C>T
AA Mutation	p.Ala3740Val(p.A3740V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	101
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228321408:228321408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200599475
CDS Mutation	c.14567G>A
AA Mutation	p.Arg4856His(p.R4856H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	102
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228369997:228369997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201714030
CDS Mutation	c.20023G>A
AA Mutation	p.Val6675Ile(p.V6675I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	103
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228212036:228212036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.253C>T
AA Mutation	p.Arg85Cys(p.R85C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	104
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228292775:228292775(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10856T>A
AA Mutation	p.Leu3619His(p.L3619H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	105
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228377668:228377668(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.23459A>C
AA Mutation	p.Lys7820Thr(p.K7820T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	106
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228246675:228246675(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3905C>T
AA Mutation	p.Ser1302Leu(p.S1302L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	107
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228268746:228268746(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5078C>T
AA Mutation	p.Ala1693Val(p.A1693V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	108
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228370060:228370060(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.20086G>T
AA Mutation	p.Asp6696Tyr(p.D6696Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	109
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228283101:228283101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371493438
CDS Mutation	c.8554C>T
AA Mutation	p.Arg2852Trp(p.R2852W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	110
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228274785:228274785(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5897G>A
AA Mutation	p.Gly1966Asp(p.G1966D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	111
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228215722:228215722(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780411914
CDS Mutation	c.1988G>A
AA Mutation	p.Arg663His(p.R663H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	112
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228249974:228249974(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199655077
CDS Mutation	c.4043C>T
AA Mutation	p.Ala1348Val(p.A1348V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	113
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228274605:228274605(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5717G>A
AA Mutation	p.Ser1906Asn(p.S1906N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	114
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228307009:228307009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768635619
CDS Mutation	c.12035G>A
AA Mutation	p.Arg4012His(p.R4012H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	115
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228287751:228287751(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9602C>T
AA Mutation	p.Ala3201Val(p.A3201V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	116
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228337342:228337342(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.16759G>A
AA Mutation	p.Glu5587Lys(p.E5587K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	117
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228212033:228212033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.250G>A
AA Mutation	p.Ala84Thr(p.A84T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	118
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228250168:228250168(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4237T>G
AA Mutation	p.Cys1413Gly(p.C1413G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	119
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228318986:228318986(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200354373
CDS Mutation	c.14234G>A
AA Mutation	p.Arg4745Gln(p.R4745Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	120
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228307164:228307164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12190C>T
AA Mutation	p.Arg4064Cys(p.R4064C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	121
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228286901:228286901(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371637325
CDS Mutation	c.9406C>T
AA Mutation	p.Arg3136Trp(p.R3136W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	122
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228321587:228321587(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199529556
CDS Mutation	c.14746C>T
AA Mutation	p.Arg4916Trp(p.R4916W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	123
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228287846:228287846(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367605500
CDS Mutation	c.9697C>T
AA Mutation	p.Arg3233Cys(p.R3233C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	124
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228280580:228280580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768185225
CDS Mutation	c.7981C>T
AA Mutation	p.Arg2661Cys(p.R2661C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	125
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228316778:228316778(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13355C>T
AA Mutation	p.Thr4452Ile(p.T4452I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	126
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228371939:228371939(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.21161C>T
AA Mutation	p.Ala7054Val(p.A7054V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	127
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228372353:228372353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.21575G>T
AA Mutation	p.Gly7192Val(p.G7192V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	128
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228274345:228274345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764613872
CDS Mutation	c.5584G>A
AA Mutation	p.Val1862Met(p.V1862M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	129
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228286986:228286986(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758940130
CDS Mutation	c.9491G>A
AA Mutation	p.Arg3164His(p.R3164H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	130
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228319180:228319180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367669699
CDS Mutation	c.14428C>T
AA Mutation	p.Arg4810Trp(p.R4810W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	131
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228322189:228322189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15348G>C
AA Mutation	p.Leu5116Phe(p.L5116F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	132
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228367029:228367029(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780303137
CDS Mutation	c.19482C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	133
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228376797:228376797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.22962T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	134
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228308169:228308169(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12525T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	135
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228308136:228308136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369076627
CDS Mutation	c.12492G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	136
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228365544:228365544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19047C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	137
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228294210:228294210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs78314897
CDS Mutation	c.11190G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	138
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228279894:228279894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs553927346
CDS Mutation	c.7470C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	139
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228283229:228283229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs573785224
CDS Mutation	c.8682C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	140
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228332906:228332906(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15699A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	141
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228214265:228214265(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs570929830
CDS Mutation	c.1350C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	142
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228274738:228274738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5850C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	143
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228283672:228283672(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8907C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	144
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228280618:228280618(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs186845111
CDS Mutation	c.8019C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	145
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228287008:228287008(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752200908
CDS Mutation	c.9513C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	146
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228274218:228274218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs554266344
CDS Mutation	c.5457C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	147
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228340014:228340014(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775204234
CDS Mutation	c.17328G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	148
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228274810:228274810(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748943716
CDS Mutation	c.5922C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	149
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228256865:228256865(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs545717091
CDS Mutation	c.4524C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	150
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228250113:228250113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765044878
CDS Mutation	c.4182G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	151
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228276607:228276607(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6378G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	152
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228315989:228315989(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs568898759
CDS Mutation	c.13155C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	153
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228372717:228372717(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371802346
CDS Mutation	c.21939C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	154
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228279344:228279344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768855517
CDS Mutation	c.7296G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	155
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228293387:228293387(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755030841
CDS Mutation	c.10902C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	156
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228332897:228332897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369233037
CDS Mutation	c.15690G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	157
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228274648:228274648(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369791051
CDS Mutation	c.5760C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	158
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228264372:228264372(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4842C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	159
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228318900:228318900(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14148C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	160
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228286172:228286172(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371187428
CDS Mutation	c.9099C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	161
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228280234:228280234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7719C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	162
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228293537:228293537(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747549726
CDS Mutation	c.11052C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	163
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228214995:228214995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374799747
CDS Mutation	c.1725C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	164
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228245636:228245636(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3705G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	165
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228283125:228283125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8578C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	166
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228350896:228350896(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377306477
CDS Mutation	c.18372C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	167
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228216638:228216638(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773124180
CDS Mutation	c.2313C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	168
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228307434:228307434(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773082203
CDS Mutation	c.12369G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	169
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228282006:228282006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746214015
CDS Mutation	c.8271C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	170
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228323398:228323398(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15444G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	171
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228321802:228321802(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14961G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	172
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228367023:228367023(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757217959
CDS Mutation	c.19476C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	173
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228283076:228283076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754613921
CDS Mutation	c.8529C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	174
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228293492:228293492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750220326
CDS Mutation	c.11007A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	175
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228350929:228350929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs548216799
CDS Mutation	c.18405G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	176
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228292749:228292749(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10830C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	177
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228306977:228306977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12003G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	178
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228211849:228211849(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.66G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	179
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228277246:228277246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769212831
CDS Mutation	c.6687C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	180
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228274783:228274783(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376901125
CDS Mutation	c.5895G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	181
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228341530:228341530(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.17950C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	182
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228250167:228250167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4236A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	183
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228316878:228316878(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374697821
CDS Mutation	c.13455C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	184
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228323539:228323539(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs183960364
CDS Mutation	c.15585C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	185
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228321910:228321910(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373882829
CDS Mutation	c.15069G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	186
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228211810:228211810(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.27G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	187
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228319047:228319047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751178093
CDS Mutation	c.14295C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	188
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228337368:228337368(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369078292
CDS Mutation	c.16785C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	189
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228308301:228308301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12657G>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	190
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228268769:228268769(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.5105delG
AA Mutation	p.Gly1702ValfsTer37(p.G1702Vfs*37)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	191
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228371756:228371756(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.20981delC
AA Mutation	p.Pro6994LeufsTer78(p.P6994Lfs*78)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	192
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228371922:228371922(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.21148delC
AA Mutation	p.His7050ThrfsTer22(p.H7050Tfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	193
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228316804:228316804(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.13381delG
AA Mutation	p.Val4461TrpfsTer79(p.V4461Wfs*79)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	194
Mutation Consequence	stop_gained
Transcription ID	ENST00000422127
Start	228264271:228264271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376801743
CDS Mutation	c.4741C>T
AA Mutation	p.Arg1581Ter(p.R1581*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	195
Mutation Consequence	stop_gained
Transcription ID	ENST00000422127
Start	228321623:228321623(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758907604
CDS Mutation	c.14782C>T
AA Mutation	p.Arg4928Ter(p.R4928*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	196
Mutation Consequence	stop_gained;inframe_insertion
Transcription ID	ENST00000422127
Start	228286121:228286122(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.9048_9049insTTTTAA
AA Mutation	p.Val3016_Gln3017insPheTer(p.V3016_Q3017insF*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	197
Mutation Consequence	stop_gained
Transcription ID	ENST00000422127
Start	228340805:228340805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.17614C>T
AA Mutation	p.Gln5872Ter(p.Q5872*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	198
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228318930:228318931(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs746005928
CDS Mutation	c.14184dupC
AA Mutation	p.Glu4729ArgfsTer7(p.E4729Rfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	199
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228332900:228332901(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.15694dupT
AA Mutation	p.Ser5232PhefsTer24(p.S5232Ffs*24)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	200
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228293609:228293610(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.11124_11125insA
AA Mutation	p.Val3709SerfsTer15(p.V3709Sfs*15)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	201
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228318105:228318106(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.14063_14064insCATCTTC
AA Mutation	p.Glu4688AspfsTer35(p.E4688Dfs*35)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> OBSCN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228294875:228294875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776221063
CDS Mutation	c.11491G>A
AA Mutation	p.Val3831Met(p.V3831M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228337048:228337048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773392960
CDS Mutation	c.16582G>A
AA Mutation	p.Ala5528Thr(p.A5528T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228244535:228244535(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3445G>A
AA Mutation	p.Gly1149Arg(p.G1149R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228256884:228256884(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376879212
CDS Mutation	c.4543G>A
AA Mutation	p.Glu1515Lys(p.E1515K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228367051:228367051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368739292
CDS Mutation	c.19504C>T
AA Mutation	p.Arg6502Trp(p.R6502W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228316865:228316865(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13442C>G
AA Mutation	p.Thr4481Ser(p.T4481S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228316101:228316101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371801755
CDS Mutation	c.13267G>T
AA Mutation	p.Ala4423Ser(p.A4423S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228341107:228341107(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781324389
CDS Mutation	c.17710G>A
AA Mutation	p.Val5904Met(p.V5904M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228224546:228224546(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2741T>A
AA Mutation	p.Val914Glu(p.V914E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228366124:228366124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780775022
CDS Mutation	c.19114G>A
AA Mutation	p.Gly6372Arg(p.G6372R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228224643:228224643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2838G>T
AA Mutation	p.Arg946Ser(p.R946S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228307086:228307086(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373344634
CDS Mutation	c.12112C>T
AA Mutation	p.Arg4038Cys(p.R4038C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228294972:228294972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11588C>T
AA Mutation	p.Ser3863Phe(p.S3863F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228287787:228287787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375877740
CDS Mutation	c.9638C>T
AA Mutation	p.Ala3213Val(p.A3213V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228245435:228245435(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3504G>T
AA Mutation	p.Lys1168Asn(p.K1168N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228245543:228245543(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3612G>T
AA Mutation	p.Lys1204Asn(p.K1204N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228288678:228288678(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10129G>A
AA Mutation	p.Ala3377Thr(p.A3377T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228321613:228321613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14772G>T
AA Mutation	p.Lys4924Asn(p.K4924N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228368853:228368853(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19899G>T
AA Mutation	p.Glu6633Asp(p.E6633D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228214221:228214221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1306G>A
AA Mutation	p.Asp436Asn(p.D436N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228246675:228246675(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3905C>T
AA Mutation	p.Ser1302Leu(p.S1302L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228264326:228264326(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369027158
CDS Mutation	c.4796C>T
AA Mutation	p.Ala1599Val(p.A1599V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228306584:228306584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746344428
CDS Mutation	c.11872G>A
AA Mutation	p.Glu3958Lys(p.E3958K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228368878:228368878(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762723103
CDS Mutation	c.19924G>A
AA Mutation	p.Glu6642Lys(p.E6642K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000422127
Start	228373036:228373036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.22258G>A
AA Mutation	p.Ala7420Thr(p.A7420T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228212545:228212545(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766978331
CDS Mutation	c.762C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228350005:228350005(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.18264C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228338009:228338009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375507173
CDS Mutation	c.16866G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228333758:228333758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.16032G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228245525:228245525(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758137677
CDS Mutation	c.3594G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228317902:228317902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs565920635
CDS Mutation	c.13860G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000422127
Start	228350854:228350854(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750591048
CDS Mutation	c.18330C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000422127
Start	228268647:228268647(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4979delA
AA Mutation	p.Tyr1660SerfsTer7(p.Y1660Sfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000422127
Start	228280442:228280442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7927C>T
AA Mutation	p.Arg2643Ter(p.R2643*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	stop_gained
Transcription ID	ENST00000422127
Start	228306921:228306921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766814997
CDS Mutation	c.11947C>T
AA Mutation	p.Arg3983Ter(p.R3983*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript