Mutation

Primary Site >> Esophagus Cancer

Gene >> KMT2D

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49026430:49026430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs267607237
CDS Mutation	c.15536G>A
AA Mutation	p.Arg5179His(p.R5179H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49031273:49031273(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs562043836
CDS Mutation	c.13432C>T
AA Mutation	p.Arg4478Trp(p.R4478W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49038067:49038067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9289G>A
AA Mutation	p.Glu3097Lys(p.E3097K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49026640:49026640(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15326G>T
AA Mutation	p.Cys5109Phe(p.C5109F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49029119:49029119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14193G>T
AA Mutation	p.Glu4731Asp(p.E4731D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49037437:49037437(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9919G>A
AA Mutation	p.Ala3307Thr(p.A3307T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49051890:49051890(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377761041
CDS Mutation	c.1793G>A
AA Mutation	p.Arg598His(p.R598H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49039761:49039761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8009C>T
AA Mutation	p.Ser2670Phe(p.S2670F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49042193:49042193(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6005G>T
AA Mutation	p.Ser2002Ile(p.S2002I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000301067
Start	49039497:49039497(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8167G>A
AA Mutation	p.Glu2723Lys(p.E2723K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301067
Start	49052923:49052923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1104G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000301067
Start	49051367:49051367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2316C>G
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000301067
Start	49049684:49049688(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3900_3904delCAAAC
AA Mutation	p.Lys1301GlyfsTer22(p.K1301Gfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301067
Start	49037474:49037484(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.9872_9882delCTGCCCAGGCC
AA Mutation	p.Pro3291HisfsTer6(p.P3291Hfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301067
Start	49038626:49038629(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.8727_8730delAAGT
AA Mutation	p.Ser2910ArgfsTer32(p.S2910Rfs*32)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301067
Start	49038247:49038247(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.9109delC
AA Mutation	p.His3037ThrfsTer34(p.H3037Tfs*34)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	17
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000301067
Start	49050790:49050790(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2798delA
AA Mutation	p.Asp933ValfsTer25(p.D933Vfs*25)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000301067
Start	49033481:49033481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11224C>T
AA Mutation	p.Gln3742Ter(p.Q3742*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000301067
Start	49033133:49033133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11572C>T
AA Mutation	p.Gln3858Ter(p.Q3858*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000301067
Start	49034135:49034135(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10672G>T
AA Mutation	p.Glu3558Ter(p.E3558*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000301067
Start	49031720:49031720(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12985C>T
AA Mutation	p.Gln4329Ter(p.Q4329*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000301067
Start	49029118:49029118(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14194C>T
AA Mutation	p.Gln4732Ter(p.Q4732*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000301067
Start	49039735:49039735(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8035A>T
AA Mutation	p.Lys2679Ter(p.K2679*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000301067
Start	49022769:49022769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.16159C>T
AA Mutation	p.Gln5387Ter(p.Q5387*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000301067
Start	49032800:49032800(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11905C>T
AA Mutation	p.Gln3969Ter(p.Q3969*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301067
Start	49026594:49026595(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.15371dupT
AA Mutation	p.Met5124IlefsTer14(p.M5124Ifs*14)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301067
Start	49037862:49037863(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.9493dupG
AA Mutation	p.Asp3165GlyfsTer11(p.D3165Gfs*11)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000301067
Start	49034894:49034895(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.10272dupT
AA Mutation	p.Ala3425CysfsTer43(p.A3425Cfs*43)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	29
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000301067
Start	49048071:49048071(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4132-2A>C
Mutation Classification	Splice_Site
Feature Type	Transcript