Colon Cancer: Gene >> EFHD1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000264059
Start	232672333:232672333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141506154
CDS Mutation	c.475G>A
AA Mutation	p.Ala159Thr(p.A159T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000264059
Start	232681676:232681676(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761223584
CDS Mutation	c.677G>A
AA Mutation	p.Arg226His(p.R226H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000264059
Start	232662945:232662945(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773966692
CDS Mutation	c.446G>A
AA Mutation	p.Arg149Gln(p.R149Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000264059
Start	232662830:232662830(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.331G>A
AA Mutation	p.Asp111Asn(p.D111N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000264059
Start	232681602:232681602(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766176708
CDS Mutation	c.603G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000264059
Start	232662865:232662865(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.370delG
AA Mutation	p.Ala124ProfsTer8(p.A124Pfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> EFHD1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000264059
Start	232662926:232662926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745364469
CDS Mutation	c.427G>A
AA Mutation	p.Asp143Asn(p.D143N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript