Mutation

Primary Site >> Stomach Cancer

Gene >> FAT1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186595788:186595788(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13039C>T
AA Mutation	p.Pro4347Ser(p.P4347S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186620284:186620284(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755378789
CDS Mutation	c.6302G>A
AA Mutation	p.Arg2101His(p.R2101H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186609881:186609881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9988G>A
AA Mutation	p.Asp3330Asn(p.D3330N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186618919:186618919(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768745435
CDS Mutation	c.7667G>A
AA Mutation	p.Arg2556Gln(p.R2556Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186619793:186619793(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6793G>A
AA Mutation	p.Ala2265Thr(p.A2265T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186618767:186618767(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7819T>C
AA Mutation	p.Ser2607Pro(p.S2607P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186596663:186596663(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12877C>T
AA Mutation	p.His4293Tyr(p.H4293Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186663436:186663436(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3443T>C
AA Mutation	p.Ile1148Thr(p.I1148T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186621271:186621271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5315G>T
AA Mutation	p.Gly1772Val(p.G1772V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186597984:186597984(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12245A>G
AA Mutation	p.Tyr4082Cys(p.Y4082C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186709148:186709148(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376051210
CDS Mutation	c.680G>A
AA Mutation	p.Arg227His(p.R227H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186628285:186628285(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4679C>G
AA Mutation	p.Pro1560Arg(p.P1560R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186596693:186596693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202133523
CDS Mutation	c.12847G>A
AA Mutation	p.Glu4283Lys(p.E4283K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186603334:186603334(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11192T>G
AA Mutation	p.Leu3731Arg(p.L3731R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186603717:186603717(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10809A>C
AA Mutation	p.Lys3603Asn(p.K3603N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186611409:186611409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9830A>C
AA Mutation	p.Lys3277Thr(p.K3277T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186621706:186621706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767331775
CDS Mutation	c.4880G>A
AA Mutation	p.Arg1627Gln(p.R1627Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186628639:186628639(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4448A>C
AA Mutation	p.Gln1483Pro(p.Q1483P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186596630:186596630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747368128
CDS Mutation	c.12910G>A
AA Mutation	p.Val4304Met(p.V4304M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186620296:186620296(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6290G>A
AA Mutation	p.Gly2097Asp(p.G2097D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186633730:186633730(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4277A>G
AA Mutation	p.Asn1426Ser(p.N1426S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186599964:186599964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12037G>A
AA Mutation	p.Ala4013Thr(p.A4013T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186603677:186603677(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10849A>G
AA Mutation	p.Thr3617Ala(p.T3617A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186620192:186620192(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6394T>G
AA Mutation	p.Leu2132Val(p.L2132V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186628645:186628645(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4442T>C
AA Mutation	p.Val1481Ala(p.V1481A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186609227:186609227(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753202486
CDS Mutation	c.10162G>A
AA Mutation	p.Val3388Ile(p.V3388I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186636772:186636772(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775228629
CDS Mutation	c.3785G>A
AA Mutation	p.Arg1262Gln(p.R1262Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186600264:186600264(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11737G>A
AA Mutation	p.Ala3913Thr(p.A3913T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186619147:186619147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7439T>C
AA Mutation	p.Val2480Ala(p.V2480A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186606104:186606104(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10316T>C
AA Mutation	p.Val3439Ala(p.V3439A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186603370:186603370(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11156T>A
AA Mutation	p.Val3719Glu(p.V3719E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186588999:186588999(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367799188
CDS Mutation	c.13360G>A
AA Mutation	p.Glu4454Lys(p.E4454K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186602932:186602932(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11453G>A
AA Mutation	p.Cys3818Tyr(p.C3818Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	34
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000441802
Start	186595691:186595691(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770597395
CDS Mutation	c.13136A>G
AA Mutation	p.Asn4379Ser(p.N4379S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186620389:186620389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6197T>C
AA Mutation	p.Val2066Ala(p.V2066A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186707186:186707186(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs536104649
CDS Mutation	c.2642G>A
AA Mutation	p.Arg881His(p.R881H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186621092:186621092(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5494G>A
AA Mutation	p.Val1832Ile(p.V1832I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186619846:186619846(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6740A>G
AA Mutation	p.His2247Arg(p.H2247R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186619217:186619217(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7369C>A
AA Mutation	p.Leu2457Met(p.L2457M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186709394:186709394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.434T>C
AA Mutation	p.Leu145Ser(p.L145S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186603704:186603704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10822G>T
AA Mutation	p.Gly3608Trp(p.G3608W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186708608:186708608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1220G>A
AA Mutation	p.Gly407Glu(p.G407E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186597716:186597716(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767305041
CDS Mutation	c.12334G>A
AA Mutation	p.Val4112Ile(p.V4112I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186619484:186619484(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7102C>T
AA Mutation	p.Pro2368Ser(p.P2368S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186619841:186619841(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6745G>A
AA Mutation	p.Ala2249Thr(p.A2249T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000441802
Start	186708960:186708960(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.868G>A
AA Mutation	p.Ala290Thr(p.A290T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	47
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186620589:186620589(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5997T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	48
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186707212:186707212(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs577598489
CDS Mutation	c.2616C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	49
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186707797:186707797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2031T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	50
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186588814:186588814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13545C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	51
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186609819:186609819(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10050T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	52
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186620475:186620475(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs533960249
CDS Mutation	c.6111G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	53
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186619686:186619686(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775680484
CDS Mutation	c.6900G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	54
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186588700:186588700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13659C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	55
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186628647:186628647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4440T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	56
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186706642:186706642(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371791429
CDS Mutation	c.3186C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	57
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186636092:186636092(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4116C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	58
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186708859:186708859(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.969T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	59
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186633804:186633804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4203C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	60
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186603462:186603462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11064T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	61
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186707686:186707686(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758056252
CDS Mutation	c.2142G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	62
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186636726:186636726(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs553222395
CDS Mutation	c.3831C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	63
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186617850:186617850(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200153984
CDS Mutation	c.8736C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	64
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186636669:186636669(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3888G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	65
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186606199:186606199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371432120
CDS Mutation	c.10221G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	66
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186709285:186709285(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777213391
CDS Mutation	c.543C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	67
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186707389:186707389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776073338
CDS Mutation	c.2439C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	68
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186628737:186628737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4350T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	69
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186589105:186589105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753540274
CDS Mutation	c.13254C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	70
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000441802
Start	186603681:186603681(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774887346
CDS Mutation	c.10845C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	71
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000441802
Start	186598007:186598008(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.12221_12222delTT
AA Mutation	p.Phe4074CysfsTer5(p.F4074Cfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	72
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000441802
Start	186614213:186614213(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.9207delA
AA Mutation	p.Lys3069AsnfsTer4(p.K3069Nfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	73
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000441802
Start	186709451:186709451(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.377delA
AA Mutation	p.Asn126IlefsTer20(p.N126Ifs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	74
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000441802
Start	186611556:186611556(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.9683delC
AA Mutation	p.Pro3228LeufsTer42(p.P3228Lfs*42)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	75
Mutation Consequence	stop_gained
Transcription ID	ENST00000441802
Start	186619938:186619938(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6648C>A
AA Mutation	p.Tyr2216Ter(p.Y2216*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	76
Mutation Consequence	stop_gained
Transcription ID	ENST00000441802
Start	186707360:186707360(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2468T>A
AA Mutation	p.Leu823Ter(p.L823*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	77
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000441802
Start	186611555:186611556(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.9683dupC
AA Mutation	p.Val3229CysfsTer3(p.V3229Cfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	78
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000441802
Start	186628152:186628152(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4810+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript