Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.49913510T>A | CA412080336 | ALG12 | c.170A>T (p.His57Leu) | dbSNP |
22 | g.49913510T>C | CA412080337 | ALG12 | c.170A>G (p.His57Arg) | |
22 | g.49913510T>G | CA412080338 | ALG12 | c.170A>C (p.His57Pro) | |
22 | g.49913510T= | CA2410564777 | ALG12 | c.170A= (p.His57=) | |
22 | g.49913511G>A | CA412080341 | ALG12 | c.169C>T (p.His57Tyr) | |
22 | g.49913511G>C | CA412080350 | ALG12 | c.169C>G (p.His57Asp) | |
22 | g.49913511G>T | CA412080344 | ALG12 | c.169C>A (p.His57Asn) | COSMIC |
22 | g.49913512G>A | CA515106793 | ALG12 | c.168C>T (p.Asp56=) | ClinVar |
22 | g.49913512G>C | CA412080354 | ALG12 | c.168C>G (p.Asp56Glu) | gnomAD v4 |
22 | g.49913512G>T | CA412080356 | ALG12 | c.168C>A (p.Asp56Glu) | |
22 | g.49913513T>A | CA412080358 | ALG12 | c.167A>T (p.Asp56Val) | |
22 | g.49913513T>C | CA412080360 | ALG12 | c.167A>G (p.Asp56Gly) | |
22 | g.49913513T>G | CA412080361 | ALG12 | c.167A>C (p.Asp56Ala) | |
22 | g.49913514C>A | CA412080366 | ALG12 | c.166G>T (p.Asp56Tyr) | gnomAD v4 |
22 | g.49913514C= | CA2410564778 | ALG12 | c.166G= (p.Asp56=) | |
22 | g.49913514C>G | CA412080367 | ALG12 | c.166G>C (p.Asp56His) | |
22 | g.49913514C>T | CA10300708 | ALG12 | c.166G>A (p.Asp56Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913515G>A | CA10300709 | ALG12 | c.165C>T (p.Tyr55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.49913515G>C | CA412080377 | ALG12 | c.165C>G (p.Tyr55Ter) | |
22 | g.49913515G= | CA2410564779 | ALG12 | c.165C= (p.Tyr55=) | |
22 | g.49913515G>T | CA412080385 | ALG12 | c.165C>A (p.Tyr55Ter) | ClinVar dbSNP |
22 | g.49913516T>A | CA412080390 | ALG12 | c.164A>T (p.Tyr55Phe) | |
22 | g.49913516T>C | CA412080394 | ALG12 | c.164A>G (p.Tyr55Cys) | |
22 | g.49913516T>G | CA412080395 | ALG12 | c.164A>C (p.Tyr55Ser) | |
22 | g.49913517A>C | CA412080397 | ALG12 | c.163T>G (p.Tyr55Asp) | |
22 | g.49913517A>G | CA412080400 | ALG12 | c.163T>C (p.Tyr55His) | |
22 | g.49913517A>T | CA412080396 | ALG12 | c.163T>A (p.Tyr55Asn) | |
22 | g.49913518C>A | CA412080415 | ALG12 | c.163-1G>T (n.163-1G>T) | |
22 | g.49913518C= | CA2410564780 | ALG12 | c.163-1G= (n.163-1G=) | |
22 | g.49913518C>G | CA412080421 | ALG12 | c.163-1G>C (n.163-1G>C) | |
22 | g.49913518C>T | CA412080422 | ALG12 | c.163-1G>A (n.163-1G>A) | dbSNP |
22 | g.49913519T>A | CA412080437 | ALG12 | c.163-2A>T (n.163-2A>T) | |
22 | g.49913519T>C | CA412080438 | ALG12 | c.163-2A>G (n.163-2A>G) | |
22 | g.49913519T>G | CA412080439 | ALG12 | c.163-2A>C (n.163-2A>C) | gnomAD v4 |
22 | g.49913521C>A | CA2410564782 | ALG12 | c.163-4G>T (n.163-4G>T) | ClinVar dbSNP gnomAD v4 |
22 | g.49913521C= | CA2410564781 | ALG12 | c.163-4G= (n.163-4G=) | |
22 | g.49913521C>T | CA10300710 | ALG12 | c.163-4G>A (n.163-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913522G>A | CA10300711 | ALG12 | c.163-5C>T (n.163-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913522G= | CA2410564783 | ALG12 | c.163-5C= (n.163-5C=) | |
22 | g.49913522G>T | CA2657454073 | ALG12 | c.163-5C>A (n.163-5C>A) | gnomAD v4 |
22 | g.49913525_49913527del | CA2657454075 | ALG12 | c.163-7_163-5del (n.163-7_163-5del) | gnomAD v4 |
22 | g.49913525G>A | CA2410564785 | ALG12 | c.163-8C>T (n.163-8C>T) | ClinVar dbSNP gnomAD v4 |
22 | g.49913525G= | CA2410564784 | ALG12 | c.163-8C= (n.163-8C=) | |
22 | g.49913527G>A | CA10300712 | ALG12 | c.163-10C>T (n.163-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913527G= | CA2410564786 | ALG12 | c.163-10C= (n.163-10C=) | |
22 | g.49913529A>G | CA2657454098 | ALG12 | c.163-12T>C (n.163-12T>C) | gnomAD v4 |
22 | g.49913530G>A | CA2577756993 | ALG12 | c.163-13C>T (n.163-13C>T) | gnomAD v4 |
22 | g.49913531G>A | CA2739265708 | ALG12 | c.163-14C>T (n.163-14C>T) | ClinVar |
22 | g.49913531G>C | CA2657454104 | ALG12 | c.163-14C>G (n.163-14C>G) | gnomAD v4 |
22 | g.49913533C= | CA2410564787 | ALG12 | c.163-16G= (n.163-16G=) |