Colon Cancer: Gene >> RYR3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33566756:33566756(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1225C>T
AA Mutation	p.Arg409Trp(p.R409W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33584422:33584422(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1601A>C
AA Mutation	p.Asn534Thr(p.N534T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33731615:33731615(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7345A>C
AA Mutation	p.Ile2449Leu(p.I2449L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33826695:33826695(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763084437
CDS Mutation	c.11188G>A
AA Mutation	p.Glu3730Lys(p.E3730K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33838339:33838339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12359C>T
AA Mutation	p.Ser4120Phe(p.S4120F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33660267:33660267(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370542262
CDS Mutation	c.4466G>A
AA Mutation	p.Arg1489Gln(p.R1489Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33827279:33827279(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747918264
CDS Mutation	c.11326C>T
AA Mutation	p.Arg3776Cys(p.R3776C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33586076:33586076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766442679
CDS Mutation	c.1748C>T
AA Mutation	p.Ser583Leu(p.S583L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33772042:33772042(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200346049
CDS Mutation	c.8939G>A
AA Mutation	p.Arg2980Gln(p.R2980Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33838652:33838652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12672G>T
AA Mutation	p.Lys4224Asn(p.K4224N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33853576:33853576(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13693C>A
AA Mutation	p.Leu4565Ile(p.L4565I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662266:33662266(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs548311351
CDS Mutation	c.4736C>T
AA Mutation	p.Ala1579Val(p.A1579V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33562912:33562912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1048G>A
AA Mutation	p.Asp350Asn(p.D350N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33623893:33623893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2444C>T
AA Mutation	p.Pro815Leu(p.P815L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662259:33662259(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4729G>A
AA Mutation	p.Ala1577Thr(p.A1577T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33865141:33865141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14528T>C
AA Mutation	p.Val4843Ala(p.V4843A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33550293:33550293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.949G>T
AA Mutation	p.Ala317Ser(p.A317S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33613285:33613285(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763983563
CDS Mutation	c.2267G>A
AA Mutation	p.Arg756His(p.R756H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33635749:33635749(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3311C>T
AA Mutation	p.Ala1104Val(p.A1104V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33838100:33838100(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368427050
CDS Mutation	c.12120G>T
AA Mutation	p.Lys4040Asn(p.K4040N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33818606:33818606(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10628A>G
AA Mutation	p.Glu3543Gly(p.E3543G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33584409:33584409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370528698
CDS Mutation	c.1588G>A
AA Mutation	p.Gly530Arg(p.G530R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33826705:33826705(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374140172
CDS Mutation	c.11198G>A
AA Mutation	p.Arg3733His(p.R3733H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33635662:33635662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3224G>A
AA Mutation	p.Arg1075Gln(p.R1075Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000389232
Start	33821271:33821271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10817A>C
AA Mutation	p.Glu3606Ala(p.E3606A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33634593:33634593(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3035A>G
AA Mutation	p.Lys1012Arg(p.K1012R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33826748:33826748(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11241C>G
AA Mutation	p.Asn3747Lys(p.N3747K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33581581:33581581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1511T>C
AA Mutation	p.Ile504Thr(p.I504T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33823065:33823065(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11065T>G
AA Mutation	p.Ser3689Ala(p.S3689A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33746090:33746090(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7922G>A
AA Mutation	p.Gly2641Glu(p.G2641E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33473446:33473446(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201612485
CDS Mutation	c.79G>A
AA Mutation	p.Ala27Thr(p.A27T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33788439:33788439(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200295482
CDS Mutation	c.9811C>T
AA Mutation	p.Arg3271Cys(p.R3271C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33739956:33739956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201466342
CDS Mutation	c.7781C>T
AA Mutation	p.Ala2594Val(p.A2594V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662701:33662701(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5171C>A
AA Mutation	p.Pro1724His(p.P1724H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33861130:33861130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14417A>G
AA Mutation	p.His4806Arg(p.H4806R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33731534:33731534(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7264C>T
AA Mutation	p.Leu2422Phe(p.L2422F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33854436:33854436(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13847T>C
AA Mutation	p.Val4616Ala(p.V4616A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33811011:33811011(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs556168339
CDS Mutation	c.10231C>T
AA Mutation	p.Arg3411Trp(p.R3411W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33603130:33603130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1930C>T
AA Mutation	p.Pro644Ser(p.P644S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33722765:33722765(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6670C>T
AA Mutation	p.Arg2224Cys(p.R2224C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33623869:33623869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2420C>T
AA Mutation	p.Ala807Val(p.A807V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33579987:33579987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1280G>C
AA Mutation	p.Arg427Pro(p.R427P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33663609:33663609(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5491G>A
AA Mutation	p.Asp1831Asn(p.D1831N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33810608:33810608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753111350
CDS Mutation	c.10156G>A
AA Mutation	p.Asp3386Asn(p.D3386N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33636473:33636473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3479T>C
AA Mutation	p.Ile1160Thr(p.I1160T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33663583:33663583(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751944735
CDS Mutation	c.5465G>A
AA Mutation	p.Arg1822Gln(p.R1822Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33848402:33848402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768358263
CDS Mutation	c.13609C>T
AA Mutation	p.Arg4537Cys(p.R4537C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33813491:33813491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10414A>G
AA Mutation	p.Lys3472Glu(p.K3472E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33635775:33635775(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745955551
CDS Mutation	c.3337G>A
AA Mutation	p.Glu1113Lys(p.E1113K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662801:33662801(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5271G>T
AA Mutation	p.Glu1757Asp(p.E1757D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33801947:33801947(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9997A>G
AA Mutation	p.Ser3333Gly(p.S3333G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33601476:33601476(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1846C>A
AA Mutation	p.Gln616Lys(p.Q616K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33539398:33539398(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.482A>G
AA Mutation	p.Glu161Gly(p.E161G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33540884:33540884(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780586791
CDS Mutation	c.640G>A
AA Mutation	p.Glu214Lys(p.E214K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33562848:33562848(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.984G>T
AA Mutation	p.Glu328Asp(p.E328D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33580080:33580080(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs74005691
CDS Mutation	c.1373G>A
AA Mutation	p.Arg458Gln(p.R458Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33628547:33628547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2651A>C
AA Mutation	p.Lys884Thr(p.K884T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000389232
Start	33631292:33631292(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2866A>C
AA Mutation	p.Asn956His(p.N956H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662840:33662840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5310A>C
AA Mutation	p.Glu1770Asp(p.E1770D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33696306:33696306(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5949C>A
AA Mutation	p.Phe1983Leu(p.F1983L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33800790:33800790(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9851C>A
AA Mutation	p.Pro3284His(p.P3284H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33812989:33812989(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780070006
CDS Mutation	c.10384G>A
AA Mutation	p.Glu3462Lys(p.E3462K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33748490:33748490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8159C>T
AA Mutation	p.Pro2720Leu(p.P2720L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33749997:33749997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8218G>T
AA Mutation	p.Ala2740Ser(p.A2740S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33831048:33831048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757214631
CDS Mutation	c.11420C>A
AA Mutation	p.Ala3807Glu(p.A3807E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33473504:33473504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774050928
CDS Mutation	c.137G>A
AA Mutation	p.Arg46His(p.R46H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33801893:33801893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9943T>G
AA Mutation	p.Phe3315Val(p.F3315V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33837864:33837864(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11884C>A
AA Mutation	p.Leu3962Ile(p.L3962I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33857829:33857829(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14057T>C
AA Mutation	p.Val4686Ala(p.V4686A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000389232
Start	33857913:33857913(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14141C>T
AA Mutation	p.Thr4714Met(p.T4714M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33566735:33566735(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754291567
CDS Mutation	c.1204C>T
AA Mutation	p.Arg402Cys(p.R402C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33601510:33601510(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1880G>T
AA Mutation	p.Arg627Ile(p.R627I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33669411:33669411(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5677C>T
AA Mutation	p.Arg1893Trp(p.R1893W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33771993:33771993(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8890T>G
AA Mutation	p.Leu2964Val(p.L2964V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33848328:33848328(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13535C>G
AA Mutation	p.Ala4512Gly(p.A4512G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33816937:33816937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10578G>T
AA Mutation	p.Glu3526Asp(p.E3526D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33819769:33819769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370636001
CDS Mutation	c.10720G>A
AA Mutation	p.Asp3574Asn(p.D3574N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33840871:33840871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13025C>T
AA Mutation	p.Ser4342Phe(p.S4342F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33857903:33857903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752579837
CDS Mutation	c.14131G>A
AA Mutation	p.Asp4711Asn(p.D4711N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33813502:33813502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10425G>T
AA Mutation	p.Trp3475Cys(p.W3475C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33646400:33646400(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200621978
CDS Mutation	c.3815C>T
AA Mutation	p.Thr1272Met(p.T1272M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662229:33662229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748141606
CDS Mutation	c.4699G>A
AA Mutation	p.Ala1567Thr(p.A1567T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662440:33662440(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4910C>T
AA Mutation	p.Thr1637Ile(p.T1637I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33785878:33785878(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9485C>T
AA Mutation	p.Thr3162Ile(p.T3162I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662328:33662328(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759747259
CDS Mutation	c.4798G>A
AA Mutation	p.Gly1600Ser(p.G1600S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33649150:33649150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4057C>T
AA Mutation	p.His1353Tyr(p.H1353Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000389232
Start	33724067:33724067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6803G>T
AA Mutation	p.Ser2268Ile(p.S2268I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33838493:33838493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770461745
CDS Mutation	c.12513C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	89
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33860614:33860614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs574626021
CDS Mutation	c.14319C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	90
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33722815:33722815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6720C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	91
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33836920:33836920(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751729910
CDS Mutation	c.11583C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	92
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33838607:33838607(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12627C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	93
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33662387:33662387(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4857G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	94
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33731500:33731500(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778179200
CDS Mutation	c.7230G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	95
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33837869:33837869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11889G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	96
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33503729:33503729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372479066
CDS Mutation	c.270C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	97
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33838751:33838751(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12771G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	98
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33646401:33646401(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770156777
CDS Mutation	c.3816G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	99
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33818676:33818676(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200309704
CDS Mutation	c.10698G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	100
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33772133:33772133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9030G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	101
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33842008:33842008(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13182G>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	102
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33662381:33662381(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755859728
CDS Mutation	c.4851C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	103
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33670531:33670531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372899243
CDS Mutation	c.5835G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	104
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33566719:33566719(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1188A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	105
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33739897:33739897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7722A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	106
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33821578:33821578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371629185
CDS Mutation	c.10971C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	107
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33821359:33821359(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374681133
CDS Mutation	c.10905C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	108
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33722779:33722779(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367645223
CDS Mutation	c.6684C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	109
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33662609:33662609(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771420569
CDS Mutation	c.5079G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	110
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33821329:33821329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10875T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	111
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33701050:33701050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6453G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	112
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33646443:33646443(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3858C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	113
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33848326:33848326(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs546016328
CDS Mutation	c.13533C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	114
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33652808:33652808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200884395
CDS Mutation	c.4233C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	115
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33696354:33696354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142550033
CDS Mutation	c.5997G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	116
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33838055:33838055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12075C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	117
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33586014:33586014(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1686G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	118
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33853618:33853618(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.13739delA
AA Mutation	p.Asn4580MetfsTer8(p.N4580Mfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	119
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33613314:33613314(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2298delT
AA Mutation	p.Phe766LeufsTer13(p.F766Lfs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	120
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33722800:33722800(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs754876562
CDS Mutation	c.6710delG
AA Mutation	p.Gly2237GlufsTer57(p.G2237Efs*57)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	121
Mutation Consequence	stop_gained
Transcription ID	ENST00000389232
Start	33601530:33601530(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780640652
CDS Mutation	c.1900C>T
AA Mutation	p.Arg634Ter(p.R634*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	122
Mutation Consequence	stop_gained
Transcription ID	ENST00000389232
Start	33623925:33623925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2476G>T
AA Mutation	p.Glu826Ter(p.E826*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	123
Mutation Consequence	stop_gained
Transcription ID	ENST00000389232
Start	33580079:33580079(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1372C>T
AA Mutation	p.Arg458Ter(p.R458*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	124
Mutation Consequence	stop_gained
Transcription ID	ENST00000389232
Start	33821336:33821336(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10882G>T
AA Mutation	p.Glu3628Ter(p.E3628*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	125
Mutation Consequence	stop_gained
Transcription ID	ENST00000389232
Start	33629997:33629997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2737G>T
AA Mutation	p.Glu913Ter(p.E913*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	126
Mutation Consequence	stop_gained
Transcription ID	ENST00000389232
Start	33699758:33699758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6304C>T
AA Mutation	p.Arg2102Ter(p.R2102*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	127
Mutation Consequence	stop_gained
Transcription ID	ENST00000389232
Start	33816935:33816935(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10576G>T
AA Mutation	p.Glu3526Ter(p.E3526*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	128
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33837800:33837801(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.11826dupA
AA Mutation	p.Glu3943ArgfsTer18(p.E3943Rfs*18)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	129
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33722725:33722726(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.6630_6631insCA
AA Mutation	p.Glu2211GlnfsTer84(p.E2211Qfs*84)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	130
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000389232
Start	33660196:33660196(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4396-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	131
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000389232
Start	33837630:33837630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11651-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> RYR3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33586064:33586064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1736G>A
AA Mutation	p.Gly579Asp(p.G579D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000389232
Start	33820810:33820810(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369689229
CDS Mutation	c.10813G>A
AA Mutation	p.Glu3605Lys(p.E3605K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33857870:33857870(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201221837
CDS Mutation	c.14098G>A
AA Mutation	p.Glu4700Lys(p.E4700K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33739956:33739956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201466342
CDS Mutation	c.7781C>T
AA Mutation	p.Ala2594Val(p.A2594V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33652755:33652755(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4180G>C
AA Mutation	p.Asp1394His(p.D1394H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33841965:33841965(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13139A>T
AA Mutation	p.Lys4380Met(p.K4380M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33701075:33701075(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6478G>C
AA Mutation	p.Glu2160Gln(p.E2160Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33644482:33644482(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs550824274
CDS Mutation	c.3728C>T
AA Mutation	p.Thr1243Met(p.T1243M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33838072:33838072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12092G>A
AA Mutation	p.Arg4031His(p.R4031H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33788268:33788268(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9640C>G
AA Mutation	p.His3214Asp(p.H3214D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662910:33662910(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5380T>G
AA Mutation	p.Leu1794Val(p.L1794V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33623903:33623903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2454G>T
AA Mutation	p.Lys818Asn(p.K818N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33633070:33633070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2989G>T
AA Mutation	p.Asp997Tyr(p.D997Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662338:33662338(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4808G>A
AA Mutation	p.Arg1603Gln(p.R1603Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33748238:33748238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759749942
CDS Mutation	c.8114G>A
AA Mutation	p.Arg2705Gln(p.R2705Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33780290:33780290(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368231214
CDS Mutation	c.9217C>T
AA Mutation	p.Arg3073Cys(p.R3073C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33816900:33816900(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10541G>T
AA Mutation	p.Arg3514Ile(p.R3514I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33831072:33831072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11444C>A
AA Mutation	p.Ser3815Tyr(p.S3815Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33613231:33613231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779196123
CDS Mutation	c.2213C>T
AA Mutation	p.Ser738Leu(p.S738L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33726435:33726435(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755513741
CDS Mutation	c.6962G>A
AA Mutation	p.Arg2321His(p.R2321H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33838952:33838952(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12972A>C
AA Mutation	p.Lys4324Asn(p.K4324N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33841972:33841972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13146G>T
AA Mutation	p.Glu4382Asp(p.E4382D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33827268:33827268(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11315A>T
AA Mutation	p.Asp3772Val(p.D3772V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33603321:33603321(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369220734
CDS Mutation	c.2121C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33838361:33838361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374756167
CDS Mutation	c.12381G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33755131:33755131(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8466G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33662786:33662786(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5256C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33635741:33635741(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752550511
CDS Mutation	c.3303C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	stop_gained
Transcription ID	ENST00000389232
Start	33623925:33623925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2476G>T
AA Mutation	p.Glu826Ter(p.E826*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000389232
Start	33696492:33696492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6134+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript