Colon Cancer: Gene >> SACS

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23337792:23337792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149018756
CDS Mutation	c.6084A>T
AA Mutation	p.Glu2028Asp(p.E2028D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23333896:23333896(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9980C>A
AA Mutation	p.Ala3327Asp(p.A3327D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330502:23330502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13374C>A
AA Mutation	p.Phe4458Leu(p.F4458L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23332100:23332100(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756252903
CDS Mutation	c.11776G>A
AA Mutation	p.Asp3926Asn(p.D3926N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23333550:23333550(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10326G>T
AA Mutation	p.Glu3442Asp(p.E3442D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23336522:23336522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7354T>G
AA Mutation	p.Leu2452Val(p.L2452V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23355292:23355292(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1320C>A
AA Mutation	p.Phe440Leu(p.F440L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330580:23330580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13296C>A
AA Mutation	p.Phe4432Leu(p.F4432L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335641:23335641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8235A>C
AA Mutation	p.Glu2745Asp(p.E2745D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23336785:23336785(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7091A>C
AA Mutation	p.Asn2364Thr(p.N2364T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23354865:23354865(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1747A>C
AA Mutation	p.Asn583His(p.N583H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23332209:23332209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11667G>T
AA Mutation	p.Gln3889His(p.Q3889H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23355857:23355857(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.755G>A
AA Mutation	p.Gly252Asp(p.G252D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23332797:23332797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11079A>T
AA Mutation	p.Gln3693His(p.Q3693H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335159:23335159(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767982708
CDS Mutation	c.8717G>A
AA Mutation	p.Arg2906Gln(p.R2906Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335633:23335633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146898231
CDS Mutation	c.8243C>A
AA Mutation	p.Ser2748Tyr(p.S2748Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23341300:23341300(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2576T>C
AA Mutation	p.Ile859Thr(p.I859T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23358455:23358455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs34482854
CDS Mutation	c.484G>A
AA Mutation	p.Ala162Thr(p.A162T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23337814:23337814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6062C>T
AA Mutation	p.Ser2021Phe(p.S2021F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23333044:23333044(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10832C>A
AA Mutation	p.Ala3611Asp(p.A3611D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23334905:23334905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759112797
CDS Mutation	c.8971C>T
AA Mutation	p.Arg2991Cys(p.R2991C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23336116:23336116(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7760C>T
AA Mutation	p.Ala2587Val(p.A2587V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23336797:23336797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7079C>A
AA Mutation	p.Ser2360Tyr(p.S2360Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331895:23331895(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759166886
CDS Mutation	c.11981C>T
AA Mutation	p.Ala3994Val(p.A3994V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23334271:23334271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9605A>T
AA Mutation	p.Asn3202Ile(p.N3202I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331243:23331243(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12633A>C
AA Mutation	p.Glu4211Asp(p.E4211D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23355125:23355125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1487T>C
AA Mutation	p.Leu496Pro(p.L496P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23341478:23341478(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2398A>T
AA Mutation	p.Met800Leu(p.M800L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23339687:23339687(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs561282342
CDS Mutation	c.4189G>A
AA Mutation	p.Glu1397Lys(p.E1397K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23332615:23332615(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11261A>T
AA Mutation	p.Asn3754Ile(p.N3754I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23339539:23339539(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4337C>T
AA Mutation	p.Pro1446Leu(p.P1446L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23336722:23336722(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7154T>A
AA Mutation	p.Leu2385His(p.L2385H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23332826:23332826(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371734450
CDS Mutation	c.11050G>A
AA Mutation	p.Gly3684Arg(p.G3684R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23334598:23334598(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9278T>C
AA Mutation	p.Val3093Ala(p.V3093A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23338144:23338144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368494148
CDS Mutation	c.5732C>T
AA Mutation	p.Thr1911Met(p.T1911M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23341199:23341199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2677A>G
AA Mutation	p.Thr893Ala(p.T893A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331206:23331206(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12670A>T
AA Mutation	p.Ile4224Leu(p.I4224L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335238:23335238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8638C>T
AA Mutation	p.Pro2880Ser(p.P2880S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335903:23335903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7973C>A
AA Mutation	p.Ala2658Asp(p.A2658D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23333597:23333597(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10279G>A
AA Mutation	p.Gly3427Arg(p.G3427R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23355786:23355786(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.826C>T
AA Mutation	p.Arg276Cys(p.R276C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330622:23330622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13254A>C
AA Mutation	p.Glu4418Asp(p.E4418D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335519:23335519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8357A>G
AA Mutation	p.Asp2786Gly(p.D2786G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335614:23335614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8262G>T
AA Mutation	p.Lys2754Asn(p.K2754N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23339416:23339416(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4460A>C
AA Mutation	p.Asp1487Ala(p.D1487A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335735:23335735(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762610527
CDS Mutation	c.8141C>T
AA Mutation	p.Ser2714Leu(p.S2714L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331391:23331391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12485C>T
AA Mutation	p.Ala4162Val(p.A4162V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23355789:23355789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.823C>A
AA Mutation	p.Leu275Ile(p.L275I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330656:23330656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13220G>T
AA Mutation	p.Ser4407Ile(p.S4407I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330902:23330902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770733719
CDS Mutation	c.12974G>A
AA Mutation	p.Arg4325Gln(p.R4325Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23333657:23333657(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10219C>A
AA Mutation	p.Leu3407Ile(p.L3407I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23337602:23337602(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6274C>A
AA Mutation	p.Leu2092Ile(p.L2092I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23337570:23337570(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6306G>T
AA Mutation	p.Leu2102Phe(p.L2102F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23340573:23340573(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3303G>T
AA Mutation	p.Lys1101Asn(p.K1101N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330719:23330719(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781760041
CDS Mutation	c.13157G>A
AA Mutation	p.Arg4386Gln(p.R4386Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23334047:23334047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9829G>T
AA Mutation	p.Asp3277Tyr(p.D3277Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23355785:23355785(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.827G>A
AA Mutation	p.Arg276His(p.R276H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23339551:23339551(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4325G>T
AA Mutation	p.Arg1442Ile(p.R1442I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23333302:23333302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10574T>C
AA Mutation	p.Leu3525Ser(p.L3525S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23339981:23339981(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3895G>T
AA Mutation	p.Asp1299Tyr(p.D1299Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23340013:23340013(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3863C>T
AA Mutation	p.Ala1288Val(p.A1288V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23338539:23338539(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767529590
CDS Mutation	c.5337G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23375182:23375182(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.108A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23335989:23335989(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7887G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23355520:23355520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1092A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23339631:23339631(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4245T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23332629:23332629(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11247C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23334126:23334126(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9750T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23337354:23337354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6522T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23338488:23338488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770598686
CDS Mutation	c.5388T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23355619:23355619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.993T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23337000:23337000(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6876G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23358378:23358378(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758653462
CDS Mutation	c.561C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23336886:23336886(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6990T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23355579:23355579(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1033C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23335221:23335221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8655C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23334993:23334993(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8883G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23338233:23338233(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5643C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23355574:23355574(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771344425
CDS Mutation	c.1038G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23368468:23368468(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373415912
CDS Mutation	c.279G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23334639:23334639(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9237T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23333423:23333423(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.10453delA
AA Mutation	p.Ile3485LeufsTer10(p.I3485Lfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23358448:23358448(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.491delT
AA Mutation	p.Phe164SerfsTer12(p.F164Sfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23334571:23334571(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.9305delT
AA Mutation	p.Leu3102Ter(p.L3102*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23337704:23337704(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.6172delT
AA Mutation	p.Ser2058LeufsTer19(p.S2058Lfs*19)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23335083:23335083(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.8793delA
AA Mutation	p.Lys2931AsnfsTer22(p.K2931Nfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23341314:23341314(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2562delA
AA Mutation	p.Lys854AsnfsTer2(p.K854Nfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23338334:23338334(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.5542delG
AA Mutation	p.Ala1848GlnfsTer2(p.A1848Qfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	89
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23338184:23338184(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5692G>T
AA Mutation	p.Glu1898Ter(p.E1898*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	90
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23336300:23336300(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7576G>T
AA Mutation	p.Glu2526Ter(p.E2526*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	91
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23355897:23355897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.715G>T
AA Mutation	p.Glu239Ter(p.E239*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	92
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23337521:23337521(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766711286
CDS Mutation	c.6355C>T
AA Mutation	p.Arg2119Ter(p.R2119*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	93
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23331523:23331523(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12353C>A
AA Mutation	p.Ser4118Ter(p.S4118*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	94
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23334686:23334686(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9190G>T
AA Mutation	p.Glu3064Ter(p.E3064*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	95
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23336648:23336648(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7228G>T
AA Mutation	p.Glu2410Ter(p.E2410*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	96
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23341601:23341601(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2275G>T
AA Mutation	p.Glu759Ter(p.E759*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	97
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23332937:23332937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10939G>T
AA Mutation	p.Glu3647Ter(p.E3647*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	98
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23339249:23339249(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4627G>T
AA Mutation	p.Glu1543Ter(p.E1543*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	99
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23339438:23339438(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4438G>T
AA Mutation	p.Glu1480Ter(p.E1480*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	100
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23335263:23335264(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.8612dupT
AA Mutation	p.Leu2871PhefsTer29(p.L2871Ffs*29)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	101
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23337703:23337704(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.6172dupT
AA Mutation	p.Ser2058PhefsTer2(p.S2058Ffs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	102
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23330610:23330611(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.13265dupC
AA Mutation	p.Ser4423PhefsTer42(p.S4423Ffs*42)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	103
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23355529:23355530(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1082_1083insTTTCAGTTCATCAGCT
AA Mutation	p.Lys361AsnfsTer12(p.K361Nfs*12)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	104
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23337689:23337690(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.6186dupT
AA Mutation	p.Pro2063SerfsTer7(p.P2063Sfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SACS

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23333378:23333378(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754075561
CDS Mutation	c.10498C>T
AA Mutation	p.Leu3500Phe(p.L3500F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330719:23330719(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781760041
CDS Mutation	c.13157G>A
AA Mutation	p.Arg4386Gln(p.R4386Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330902:23330902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770733719
CDS Mutation	c.12974G>A
AA Mutation	p.Arg4325Gln(p.R4325Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335159:23335159(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767982708
CDS Mutation	c.8717G>A
AA Mutation	p.Arg2906Gln(p.R2906Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23336371:23336371(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769239148
CDS Mutation	c.7505G>A
AA Mutation	p.Arg2502Gln(p.R2502Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23337682:23337682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6194T>A
AA Mutation	p.Ile2065Asn(p.I2065N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23337874:23337874(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6002G>T
AA Mutation	p.Arg2001Ile(p.R2001I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23339461:23339461(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4415C>A
AA Mutation	p.Pro1472His(p.P1472H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335454:23335454(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8422A>G
AA Mutation	p.Thr2808Ala(p.T2808A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23340560:23340560(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3316G>T
AA Mutation	p.Val1106Leu(p.V1106L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331469:23331469(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12407T>G
AA Mutation	p.Leu4136Arg(p.L4136R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331607:23331607(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12269A>T
AA Mutation	p.His4090Leu(p.H4090L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23340022:23340022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3854G>A
AA Mutation	p.Cys1285Tyr(p.C1285Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23336894:23336894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6982A>C
AA Mutation	p.Met2328Leu(p.M2328L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23355979:23355979(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.633A>C
AA Mutation	p.Gln211His(p.Q211H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23341142:23341142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777238047
CDS Mutation	c.2734G>A
AA Mutation	p.Asp912Asn(p.D912N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23339716:23339716(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4160C>A
AA Mutation	p.Pro1387His(p.P1387H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330295:23330295(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13581A>C
AA Mutation	p.Glu4527Asp(p.E4527D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330971:23330971(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12905C>A
AA Mutation	p.Ser4302Tyr(p.S4302Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331209:23331209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12667A>C
AA Mutation	p.Lys4223Gln(p.K4223Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23332951:23332951(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10925G>T
AA Mutation	p.Gly3642Val(p.G3642V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23334759:23334759(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9117A>C
AA Mutation	p.Lys3039Asn(p.K3039N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23334974:23334974(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8902C>A
AA Mutation	p.Leu2968Ile(p.L2968I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335418:23335418(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8458A>G
AA Mutation	p.Ile2820Val(p.I2820V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335555:23335555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8321G>T
AA Mutation	p.Arg2774Ile(p.R2774I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23338963:23338963(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774163551
CDS Mutation	c.4913G>A
AA Mutation	p.Ser1638Asn(p.S1638N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23340476:23340476(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3400G>A
AA Mutation	p.Val1134Ile(p.V1134I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23340932:23340932(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2944A>C
AA Mutation	p.Lys982Gln(p.K982Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23355631:23355631(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370395358
CDS Mutation	c.981G>T
AA Mutation	p.Glu327Asp(p.E327D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331395:23331395(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12481C>T
AA Mutation	p.Pro4161Ser(p.P4161S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23330359:23330359(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13517C>T
AA Mutation	p.Ala4506Val(p.A4506V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23331055:23331055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12821G>T
AA Mutation	p.Arg4274Ile(p.R4274I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23332005:23332005(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11871T>G
AA Mutation	p.Phe3957Leu(p.F3957L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23332979:23332979(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10897T>G
AA Mutation	p.Phe3633Val(p.F3633V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23334367:23334367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9509G>A
AA Mutation	p.Arg3170Gln(p.R3170Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23335790:23335790(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8086A>C
AA Mutation	p.Thr2696Pro(p.T2696P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23337299:23337299(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149278134
CDS Mutation	c.6577G>A
AA Mutation	p.Asp2193Asn(p.D2193N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23339260:23339260(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4616C>T
AA Mutation	p.Thr1539Ile(p.T1539I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23340070:23340070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3806C>A
AA Mutation	p.Ser1269Tyr(p.S1269Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000382292
Start	23353875:23353875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2095T>C
AA Mutation	p.Ser699Pro(p.S699P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000382292
Start	23411225:23411225(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15G>T
AA Mutation	p.Glu5Asp(p.E5D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23330522:23330522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13354A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23332599:23332599(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777278208
CDS Mutation	c.11277G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23336043:23336043(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7833G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23330610:23330610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753101659
CDS Mutation	c.13266T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23333427:23333427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10449A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23334597:23334597(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9279G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23337057:23337057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6819A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23339295:23339295(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4581T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23358453:23358453(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775081172
CDS Mutation	c.486G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000382292
Start	23333361:23333361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10515A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23368418:23368418(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.329delG
AA Mutation	p.Gly110GlufsTer8(p.G110Efs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	stop_gained
Transcription ID	ENST00000382292
Start	23331938:23331938(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11938G>T
AA Mutation	p.Glu3980Ter(p.E3980*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000382292
Start	23330472:23330473(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.13403dupA
AA Mutation	p.Asn4468LysfsTer4(p.N4468Kfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript