Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.12295948T>A | CA3638754 | EDN1 | c.534-14T>A (n.534-14T>A) c.531-14T>A (n.531-14T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295948T= | CA1610830835 | EDN1 | c.534-14T= (n.534-14T=) c.531-14T= (n.531-14T=) | |
6 | g.12295951del | CA2677350373 | EDN1 | c.534-11del (n.534-11del) c.531-11del (n.531-11del) | gnomAD v4 |
6 | g.12295952del | CA2677350374 | EDN1 | c.534-10del (n.534-10del) c.531-10del (n.531-10del) | gnomAD v4 |
6 | g.12295952G>A | CA2677350375 | EDN1 | c.534-10G>A (n.534-10G>A) c.531-10G>A (n.531-10G>A) | gnomAD v4 |
6 | g.12295952G= | CA1610830837 | EDN1 | c.534-10G= (n.534-10G=) c.531-10G= (n.531-10G=) | |
6 | g.12295952G>T | CA448427931 | EDN1 | c.534-10G>T (n.534-10G>T) c.531-10G>T (n.531-10G>T) | dbSNP |
6 | g.12295953C>A | CA565609695 | EDN1 | c.534-9C>A (n.534-9C>A) c.531-9C>A (n.531-9C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12295953C= | CA1610830838 | EDN1 | c.534-9C= (n.534-9C=) c.531-9C= (n.531-9C=) | |
6 | g.12295953C>T | CA3638755 | EDN1 | c.534-9C>T (n.534-9C>T) c.531-9C>T (n.531-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12295954T>A | CA1610830842 | EDN1 | c.534-8T>A (n.534-8T>A) c.531-8T>A (n.531-8T>A) | dbSNP |
6 | g.12295954T>C | CA3638756 | EDN1 | c.534-8T>C (n.534-8T>C) c.531-8T>C (n.531-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12295954T= | CA1610830841 | EDN1 | c.534-8T= (n.534-8T=) c.531-8T= (n.531-8T=) | |
6 | g.12295957A= | CA1610830844 | EDN1 | c.534-5A= (n.534-5A=) c.531-5A= (n.531-5A=) | |
6 | g.12295957A>G | CA3638757 | EDN1 | c.534-5A>G (n.534-5A>G) c.531-5A>G (n.531-5A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12295957A>T | CA3638758 | EDN1 | c.534-5A>T (n.534-5A>T) c.531-5A>T (n.531-5A>T) | dbSNP ExAC |
6 | g.12295958T>C | CA2677350376 | EDN1 | c.534-4T>C (n.534-4T>C) c.531-4T>C (n.531-4T>C) | gnomAD v4 |
6 | g.12295960A>C | CA362857212 | EDN1 | c.534-2A>C (n.534-2A>C) c.531-2A>C (n.531-2A>C) | |
6 | g.12295960A>G | CA362857210 | EDN1 | c.534-2A>G (n.534-2A>G) c.531-2A>G (n.531-2A>G) | gnomAD v4 COSMIC |
6 | g.12295960A>T | CA362857211 | EDN1 | c.534-2A>T (n.534-2A>T) c.531-2A>T (n.531-2A>T) | |
6 | g.12295961G>A | CA362857213 | EDN1 | c.534-1G>A (n.534-1G>A) c.531-1G>A (n.531-1G>A) | |
6 | g.12295961G>C | CA362857214 | EDN1 | c.534-1G>C (n.534-1G>C) c.531-1G>C (n.531-1G>C) | |
6 | g.12295961G>T | CA362857215 | EDN1 | c.534-1G>T (n.534-1G>T) c.531-1G>T (n.531-1G>T) | |
6 | g.12295962G>A | CA448427932 | EDN1 | c.534G>A (p.Arg178=) c.531G>A (p.Arg177=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12295962G>C | CA362857216 | EDN1 | c.534G>C (p.Arg178Ser) c.531G>C (p.Arg177Ser) | |
6 | g.12295962G= | CA1610830847 | EDN1 | c.534G= (p.Arg178=) c.531G= (p.Arg177=) | |
6 | g.12295962G>T | CA362857217 | EDN1 | c.534G>T (p.Arg178Ser) c.531G>T (p.Arg177Ser) | ClinVar dbSNP |
6 | g.12295963T>A | CA362857218 | EDN1 | c.535T>A (p.Ser179Thr) c.532T>A (p.Ser178Thr) | dbSNP gnomAD v2 |
6 | g.12295963T>C | CA362857219 | EDN1 | c.535T>C (p.Ser179Pro) c.532T>C (p.Ser178Pro) | |
6 | g.12295963T>G | CA362857220 | EDN1 | c.535T>G (p.Ser179Ala) c.532T>G (p.Ser178Ala) | |
6 | g.12295963T= | CA1610830851 | EDN1 | c.535T= (p.Ser179=) c.532T= (p.Ser178=) | |
6 | g.12295964C>A | CA362857221 | EDN1 | c.536C>A (p.Ser179Ter) c.533C>A (p.Ser178Ter) | dbSNP gnomAD v4 |
6 | g.12295964C= | CA1610830853 | EDN1 | c.536C= (p.Ser179=) c.533C= (p.Ser178=) | |
6 | g.12295964C>G | CA362857222 | EDN1 | c.536C>G (p.Ser179Trp) c.533C>G (p.Ser178Trp) | |
6 | g.12295964C>T | CA3638759 | EDN1 | c.536C>T (p.Ser179Leu) c.533C>T (p.Ser178Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295965G>A | CA3638760 | EDN1 | c.537G>A (p.Ser179=) c.534G>A (p.Ser178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295965G>C | CA448427933 | EDN1 | c.537G>C (p.Ser179=) c.534G>C (p.Ser178=) | |
6 | g.12295965G= | CA1610830857 | EDN1 | c.537G= (p.Ser179=) c.534G= (p.Ser178=) | |
6 | g.12295965G>T | CA448427934 | EDN1 | c.537G>T (p.Ser179=) c.534G>T (p.Ser178=) | |
6 | g.12295966G>A | CA362857225 | EDN1 | c.538G>A (p.Glu180Lys) c.535G>A (p.Glu179Lys) | |
6 | g.12295966G>C | CA362857224 | EDN1 | c.538G>C (p.Glu180Gln) c.535G>C (p.Glu179Gln) | |
6 | g.12295966G>T | CA362857223 | EDN1 | c.538G>T (p.Glu180Ter) c.535G>T (p.Glu179Ter) | |
6 | g.12295967A>C | CA362857227 | EDN1 | c.539A>C (p.Glu180Ala) c.536A>C (p.Glu179Ala) | |
6 | g.12295967A>G | CA362857226 | EDN1 | c.539A>G (p.Glu180Gly) c.536A>G (p.Glu179Gly) | |
6 | g.12295967A>T | CA362857228 | EDN1 | c.539A>T (p.Glu180Val) c.536A>T (p.Glu179Val) | |
6 | g.12295968G>A | CA448427935 | EDN1 | c.540G>A (p.Glu180=) c.537G>A (p.Glu179=) | COSMIC |
6 | g.12295968G>C | CA362857229 | EDN1 | c.540G>C (p.Glu180Asp) c.537G>C (p.Glu179Asp) | |
6 | g.12295968G= | CA1610830863 | EDN1 | c.540G= (p.Glu180=) c.537G= (p.Glu179=) | |
6 | g.12295968G>T | CA362857230 | EDN1 | c.540G>T (p.Glu180Asp) c.537G>T (p.Glu179Asp) | dbSNP gnomAD v2 |
6 | g.12295969A>C | CA362857231 | EDN1 | c.541A>C (p.Thr181Pro) c.538A>C (p.Thr180Pro) |