| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12295937_12295938delinsGT | CA1610830824 | EDN1 | c.534-25_534-24delinsGT (n.534-25_534-24delinsGT) c.531-25_531-24delinsGT (n.531-25_531-24delinsGT) | |
| 6 | g.12295938T>C | CA2578531341 | EDN1 | c.534-24T>C (n.534-24T>C) c.531-24T>C (n.531-24T>C) | |
| 6 | g.12295941del | CA818232069 | EDN1 | c.534-21del (n.534-21del) c.531-21del (n.531-21del) | dbSNP |
| 6 | g.12295941T>G | CA565609684 | EDN1 | c.534-21T>G (n.534-21T>G) c.531-21T>G (n.531-21T>G) | gnomAD |
| 6 | g.12295941T= | CA1610830827 | EDN1 | c.534-21T= (n.534-21T=) c.531-21T= (n.531-21T=) | |
| 6 | g.12295942C>A | CA2578531342 | EDN1 | c.534-20C>A (n.534-20C>A) c.531-20C>A (n.531-20C>A) | |
| 6 | g.12295943T>C | CA3638753 | EDN1 | c.534-19T>C (n.534-19T>C) c.531-19T>C (n.531-19T>C) | dbSNP ExAC gnomAD |
| 6 | g.12295943T= | CA1610830829 | EDN1 | c.534-19T= (n.534-19T=) c.531-19T= (n.531-19T=) | |
| 6 | g.12295944C= | CA1610830833 | EDN1 | c.534-18C= (n.534-18C=) c.531-18C= (n.531-18C=) | |
| 6 | g.12295944C>T | CA1086047706 | EDN1 | c.534-18C>T (n.534-18C>T) c.531-18C>T (n.531-18C>T) | |
| 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 |
| 6 | g.12295948T= | CA1610830835 | EDN1 | c.534-14T= (n.534-14T=) c.531-14T= (n.531-14T=) | |
| 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) | |
| 6 | g.12295953C>A | CA565609695 | EDN1 | c.534-9C>A (n.534-9C>A) c.531-9C>A (n.531-9C>A) | gnomAD |
| 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 |
| 6 | g.12295954T>A | CA1610830842 | EDN1 | c.534-8T>A (n.534-8T>A) c.531-8T>A (n.531-8T>A) | |
| 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 |
| 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 |
| 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.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) | 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=) | gnomAD |
| 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 |
| 6 | g.12295963T>A | CA362857218 | EDN1 | c.535T>A (p.Ser179Thr) c.532T>A (p.Ser178Thr) | gnomAD |
| 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) | |
| 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 |
| 6 | g.12295965G>A | CA3638760 | EDN1 | c.537G>A (p.Ser179=) c.534G>A (p.Ser178=) | dbSNP ExAC gnomAD |
| 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) |