Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.12290661T>A | CA362856075 | EDN1 | c.32T>A (p.Leu11Gln) | gnomAD v4 |
6 | g.12290661T>C | CA362856076 | EDN1 | c.32T>C (p.Leu11Pro) | |
6 | g.12290661T>G | CA362856077 | EDN1 | c.32T>G (p.Leu11Arg) | |
6 | g.12290662G>A | CA448427595 | EDN1 | c.33G>A (p.Leu11=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12290662G>C | CA448427593 | EDN1 | c.33G>C (p.Leu11=) | |
6 | g.12290662G= | CA1610841825 | EDN1 | c.33G= (p.Leu11=) | |
6 | g.12290662G>T | CA448427594 | EDN1 | c.33G>T (p.Leu11=) | |
6 | g.12290663T>A | CA362856079 | EDN1 | c.34T>A (p.Phe12Ile) | |
6 | g.12290663T>C | CA362856080 | EDN1 | c.34T>C (p.Phe12Leu) | gnomAD v4 |
6 | g.12290663T>G | CA362856078 | EDN1 | c.34T>G (p.Phe12Val) | |
6 | g.12290664T>A | CA362856081 | EDN1 | c.35T>A (p.Phe12Tyr) | |
6 | g.12290664T>C | CA362856083 | EDN1 | c.35T>C (p.Phe12Ser) | |
6 | g.12290664T>G | CA362856082 | EDN1 | c.35T>G (p.Phe12Cys) | |
6 | g.12290665T>A | CA362856084 | EDN1 | c.36T>A (p.Phe12Leu) | |
6 | g.12290665T>C | CA448427596 | EDN1 | c.36T>C (p.Phe12=) | |
6 | g.12290665T>G | CA362856085 | EDN1 | c.36T>G (p.Phe12Leu) | |
6 | g.12290666G>A | CA362856086 | EDN1 | c.37G>A (p.Val13Met) | |
6 | g.12290666G>C | CA362856087 | EDN1 | c.37G>C (p.Val13Leu) | |
6 | g.12290666G>T | CA362856088 | EDN1 | c.37G>T (p.Val13Leu) | |
6 | g.12290667T>A | CA362856089 | EDN1 | c.38T>A (p.Val13Glu) | |
6 | g.12290667T>C | CA362856090 | EDN1 | c.38T>C (p.Val13Ala) | |
6 | g.12290667T>G | CA362856091 | EDN1 | c.38T>G (p.Val13Gly) | |
6 | g.12290668G>A | CA448427599 | EDN1 | c.39G>A (p.Val13=) | dbSNP gnomAD v4 |
6 | g.12290668G>C | CA448427597 | EDN1 | c.39G>C (p.Val13=) | |
6 | g.12290668G= | CA1610841828 | EDN1 | c.39G= (p.Val13=) | |
6 | g.12290668G>T | CA448427598 | EDN1 | c.39G>T (p.Val13=) | |
6 | g.12290669G>A | CA362856092 | EDN1 | c.40G>A (p.Ala14Thr) | |
6 | g.12290669G>C | CA362856093 | EDN1 | c.40G>C (p.Ala14Pro) | gnomAD v4 |
6 | g.12290669G>T | CA362856094 | EDN1 | c.40G>T (p.Ala14Ser) | |
6 | g.12290673_12290762del | CA3638572 | EDN1 | c.44_64+69del | ExAC |
6 | g.12290670C>A | CA362856097 | EDN1 | c.41C>A (p.Ala14Asp) | |
6 | g.12290670C= | CA1610841832 | EDN1 | c.41C= (p.Ala14=) | |
6 | g.12290670C>G | CA362856095 | EDN1 | c.41C>G (p.Ala14Gly) | |
6 | g.12290670C>T | CA362856096 | EDN1 | c.41C>T (p.Ala14Val) | |
6 | g.12290671T>A | CA448427600 | EDN1 | c.42T>A (p.Ala14=) | |
6 | g.12290671T>C | CA448427601 | EDN1 | c.42T>C (p.Ala14=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12290671T>G | CA448427602 | EDN1 | c.42T>G (p.Ala14=) | |
6 | g.12290671T= | CA1610841837 | EDN1 | c.42T= (p.Ala14=) | |
6 | g.12290672dup | CA3638573 | EDN1 | c.43dup (p.Cys15LeufsTer13) c.43dup (p.Cys15LeufsTer12) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290671_12290672dup | CA2740720991 | EDN1 | c.42_43dup (p.Cys15PhefsTer11) c.42_43dup (p.Cys15PhefsTer10) | |
6 | g.12290672T>A | CA362856098 | EDN1 | c.43T>A (p.Cys15Ser) | |
6 | g.12290672T>C | CA362856099 | EDN1 | c.43T>C (p.Cys15Arg) | |
6 | g.12290672T>G | CA362856100 | EDN1 | c.43T>G (p.Cys15Gly) | |
6 | g.12290673G>A | CA362856101 | EDN1 | c.44G>A (p.Cys15Tyr) | |
6 | g.12290673G>C | CA362856102 | EDN1 | c.44G>C (p.Cys15Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12290673G= | CA1610841844 | EDN1 | c.44G= (p.Cys15=) | |
6 | g.12290673G>T | CA3638574 | EDN1 | c.44G>T (p.Cys15Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290674C>A | CA362856103 | EDN1 | c.45C>A (p.Cys15Ter) | |
6 | g.12290674C= | CA1610841848 | EDN1 | c.45C= (p.Cys15=) | |
6 | g.12290674C>G | CA3638576 | EDN1 | c.45C>G (p.Cys15Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290674C>T | CA3638575 | EDN1 | c.45C>T (p.Cys15=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290675C>A | CA3638577 | EDN1 | c.46C>A (p.Gln16Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290675C= | CA1610841854 | EDN1 | c.46C= (p.Gln16=) | |
6 | g.12290675C>G | CA362856105 | EDN1 | c.46C>G (p.Gln16Glu) | |
6 | g.12290675C>T | CA362856104 | EDN1 | c.46C>T (p.Gln16Ter) | gnomAD v4 |
6 | g.12290676A= | CA1610841857 | EDN1 | c.47A= (p.Gln16=) | |
6 | g.12290676A>C | CA3638578 | EDN1 | c.47A>C (p.Gln16Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290676A>G | CA362856106 | EDN1 | c.47A>G (p.Gln16Arg) | |
6 | g.12290676A>T | CA3638579 | EDN1 | c.47A>T (p.Gln16Leu) | dbSNP ExAC gnomAD v2 |
6 | g.12290677A>C | CA362856107 | EDN1 | c.48A>C (p.Gln16His) | |
6 | g.12290677A>G | CA448427603 | EDN1 | c.48A>G (p.Gln16=) | |
6 | g.12290677A>T | CA362856108 | EDN1 | c.48A>T (p.Gln16His) | |
6 | g.12290678G>A | CA3638580 | EDN1 | c.49G>A (p.Gly17Arg) | dbSNP ExAC gnomAD v4 |
6 | g.12290678G>C | CA362856109 | EDN1 | c.49G>C (p.Gly17Arg) | |
6 | g.12290678G= | CA1610841858 | EDN1 | c.49G= (p.Gly17=) | |
6 | g.12290678G>T | CA3638581 | EDN1 | c.49G>T (p.Gly17Ter) | dbSNP ExAC |
6 | g.12290679del | CA2677349836 | EDN1 | c.50del (p.Gly17GlufsTer8) c.50del (p.Gly17GlufsTer7) | gnomAD v4 |
6 | g.12290679G>A | CA3638582 | EDN1 | c.50G>A (p.Gly17Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290679G>C | CA362856110 | EDN1 | c.50G>C (p.Gly17Ala) | |
6 | g.12290679G= | CA1610841859 | EDN1 | c.50G= (p.Gly17=) | |
6 | g.12290679G>T | CA362856111 | EDN1 | c.50G>T (p.Gly17Val) | |
6 | g.12290680A>C | CA448427606 | EDN1 | c.51A>C (p.Gly17=) | |
6 | g.12290680A>G | CA448427604 | EDN1 | c.51A>G (p.Gly17=) | |
6 | g.12290680A>T | CA448427605 | EDN1 | c.51A>T (p.Gly17=) | |
6 | g.12290681G>A | CA3638583 | EDN1 | c.52G>A (p.Ala18Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290681G>C | CA362856112 | EDN1 | c.52G>C (p.Ala18Pro) | |
6 | g.12290681G= | CA1610841861 | EDN1 | c.52G= (p.Ala18=) | |
6 | g.12290681G>T | CA134216952 | EDN1 | c.52G>T (p.Ala18Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290682C>A | CA362856113 | EDN1 | c.53C>A (p.Ala18Asp) | |
6 | g.12290682C= | CA1610841862 | EDN1 | c.53C= (p.Ala18=) | |
6 | g.12290682C>G | CA3638584 | EDN1 | c.53C>G (p.Ala18Gly) | dbSNP ExAC |
6 | g.12290682C>T | CA362856114 | EDN1 | c.53C>T (p.Ala18Val) | |
6 | g.12290683T>A | CA448427607 | EDN1 | c.54T>A (p.Ala18=) | |
6 | g.12290683T>C | CA448427609 | EDN1 | c.54T>C (p.Ala18=) | |
6 | g.12290683T>G | CA448427608 | EDN1 | c.54T>G (p.Ala18=) | |
6 | g.12290684C>A | CA362856115 | EDN1 | c.55C>A (p.Pro19Thr) | gnomAD v4 |
6 | g.12290684C>G | CA362856116 | EDN1 | c.55C>G (p.Pro19Ala) | gnomAD v4 |
6 | g.12290684C>T | CA362856117 | EDN1 | c.55C>T (p.Pro19Ser) | |
6 | g.12290685C>A | CA3638585 | EDN1 | c.56C>A (p.Pro19Gln) | dbSNP ExAC |
6 | g.12290685C= | CA1610841867 | EDN1 | c.56C= (p.Pro19=) | |
6 | g.12290685C>G | CA362856118 | EDN1 | c.56C>G (p.Pro19Arg) | |
6 | g.12290685C>T | CA362856119 | EDN1 | c.56C>T (p.Pro19Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290686A>C | CA448427610 | EDN1 | c.57A>C (p.Pro19=) | gnomAD v4 |
6 | g.12290686A>G | CA448427611 | EDN1 | c.57A>G (p.Pro19=) | |
6 | g.12290686A>T | CA448427612 | EDN1 | c.57A>T (p.Pro19=) | |
6 | g.12290687G>A | CA362856120 | EDN1 | c.58G>A (p.Glu20Lys) | |
6 | g.12290687G>C | CA362856121 | EDN1 | c.58G>C (p.Glu20Gln) | |
6 | g.12290687G>T | CA362856122 | EDN1 | c.58G>T (p.Glu20Ter) | |
6 | g.12290688A>C | CA362856123 | EDN1 | c.59A>C (p.Glu20Ala) | |
6 | g.12290688A>G | CA362856124 | EDN1 | c.59A>G (p.Glu20Gly) | |
6 | g.12290688A>T | CA362856125 | EDN1 | c.59A>T (p.Glu20Val) | |
6 | g.12290689A>C | CA362856126 | EDN1 | c.60A>C (p.Glu20Asp) | gnomAD v4 |
6 | g.12290689A>G | CA448427613 | EDN1 | c.60A>G (p.Glu20=) | |
6 | g.12290689A>T | CA362856127 | EDN1 | c.60A>T (p.Glu20Asp) | |
6 | g.12290690A>C | CA362856128 | EDN1 | c.61A>C (p.Thr21Pro) | |
6 | g.12290690A>G | CA362856130 | EDN1 | c.61A>G (p.Thr21Ala) | |
6 | g.12290690A>T | CA362856129 | EDN1 | c.61A>T (p.Thr21Ser) | |
6 | g.12290691C>A | CA134216956 | EDN1 | c.62C>A (p.Thr21Lys) | dbSNP gnomAD v4 |
6 | g.12290691C= | CA1610841870 | EDN1 | c.62C= (p.Thr21=) | |
6 | g.12290691C>G | CA362856132 | EDN1 | c.62C>G (p.Thr21Arg) | |
6 | g.12290691C>T | CA362856131 | EDN1 | c.62C>T (p.Thr21Ile) | |
6 | g.12290692A= | CA1610841875 | EDN1 | c.63A= (p.Thr21=) | |
6 | g.12290692A>C | CA448427614 | EDN1 | c.63A>C (p.Thr21=) | |
6 | g.12290692A>G | CA3638586 | EDN1 | c.63A>G (p.Thr21=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290692A>T | CA448427615 | EDN1 | c.63A>T (p.Thr21=) | |
6 | g.12290693G>A | CA362856133 | EDN1 | c.64G>A (p.Ala22Thr) c.64G>A (p.Val22Ile) | |
6 | g.12290693G>C | CA362856134 | EDN1 | c.64G>C (p.Ala22Pro) c.64G>C (p.Val22Leu) | |
6 | g.12290693G>T | CA362856135 | EDN1 | c.64G>T (p.Ala22Ser) c.64G>T (p.Val22Phe) | |
6 | g.12290694G>A | CA362856136 | EDN1 | c.64+1G>A (n.64+1G>A) | |
6 | g.12290694G>C | CA362856137 | EDN1 | c.64+1G>C (n.64+1G>C) | |
6 | g.12290694G>T | CA362856138 | EDN1 | c.64+1G>T (n.64+1G>T) | |
6 | g.12290695T>A | CA362856139 | EDN1 | c.64+2T>A (n.64+2T>A) | |
6 | g.12290695T>C | CA362856140 | EDN1 | c.64+2T>C (n.64+2T>C) | |
6 | g.12290695T>G | CA362856141 | EDN1 | c.64+2T>G (n.64+2T>G) | gnomAD v4 |
6 | g.12290695T= | CA1610841884 | EDN1 | c.64+2T= (n.64+2T=) | |
6 | g.12290696A>G | CA2677349837 | EDN1 | c.64+3A>G (n.64+3A>G) | gnomAD v4 |
6 | g.12290696dup | CA565606513 | EDN1 | c.64+3dup (n.64+3dup) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12290697G>C | CA3638587 | EDN1 | c.64+4G>C (n.64+4G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290697G= | CA1610841897 | EDN1 | c.64+4G= (n.64+4G=) | |
6 | g.12290698G>A | CA2578531267 | EDN1 | c.64+5G>A (n.64+5G>A) | gnomAD v4 |
6 | g.12290698G= | CA1610841899 | EDN1 | c.64+5G= (n.64+5G=) | |
6 | g.12290698G>T | CA1610841901 | EDN1 | c.64+5G>T (n.64+5G>T) | dbSNP gnomAD v4 |
6 | g.12290699C>A | CA2677349838 | EDN1 | c.64+6C>A (n.64+6C>A) | gnomAD v4 |
6 | g.12290701C>A | CA818251712 | EDN1 | c.64+8C>A (n.64+8C>A) | dbSNP gnomAD v4 |
6 | g.12290701C= | CA1610841908 | EDN1 | c.64+8C= (n.64+8C=) | |
6 | g.12290701C>G | CA134216960 | EDN1 | c.64+8C>G (n.64+8C>G) | dbSNP gnomAD v4 |
6 | g.12290701C>T | CA3638588 | EDN1 | c.64+8C>T (n.64+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290702G>A | CA134216963 | EDN1 | c.64+9G>A (n.64+9G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290702G= | CA1610841911 | EDN1 | c.64+9G= (n.64+9G=) | |
6 | g.12290702G>T | CA3638589 | EDN1 | c.64+9G>T (n.64+9G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290705C>A | CA2677349839 | EDN1 | c.64+12C>A (n.64+12C>A) | gnomAD v4 |
6 | g.12290705C= | CA1610841915 | EDN1 | c.64+12C= (n.64+12C=) | |
6 | g.12290705C>G | CA3638590 | EDN1 | c.64+12C>G (n.64+12C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290705C>T | CA818251718 | EDN1 | c.64+12C>T (n.64+12C>T) | dbSNP gnomAD v4 |
6 | g.12290706G>A | CA818251722 | EDN1 | c.64+13G>A (n.64+13G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290706G>C | CA2677349840 | EDN1 | c.64+13G>C (n.64+13G>C) | gnomAD v4 |
6 | g.12290706G= | CA1610841917 | EDN1 | c.64+13G= (n.64+13G=) | |
6 | g.12290707T>C | CA1610841924 | EDN1 | c.64+14T>C (n.64+14T>C) | dbSNP gnomAD v4 |
6 | g.12290707T= | CA1610841922 | EDN1 | c.64+14T= (n.64+14T=) | |
6 | g.12290711C= | CA1610841926 | EDN1 | c.64+18C= (n.64+18C=) | |
6 | g.12290711C>T | CA3638591 | EDN1 | c.64+18C>T (n.64+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290712T>C | CA1610841930 | EDN1 | c.64+19T>C (n.64+19T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290712T= | CA1610841929 | EDN1 | c.64+19T= (n.64+19T=) | |
6 | g.12290713_12290714delinsTG | CA1610841932 | EDN1 | c.64+20_64+21delinsTG (n.64+20_64+21delinsTG) | |
6 | g.12290714del | CA565606535 | EDN1 | c.64+21del (n.64+21del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12290714G>A | CA3638592 | EDN1 | c.64+21G>A (n.64+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290714G>C | CA1610841936 | EDN1 | c.64+21G>C (n.64+21G>C) | dbSNP gnomAD v4 |
6 | g.12290714G= | CA1610841935 | EDN1 | c.64+21G= (n.64+21G=) | |
6 | g.12290715dup | CA2677349841 | EDN1 | c.64+22dup (n.64+22dup) | gnomAD v4 |
6 | g.12290718G>A | CA565606545 | EDN1 | c.64+25G>A (n.64+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290718G>C | CA2677349842 | EDN1 | c.64+25G>C (n.64+25G>C) | gnomAD v4 |
6 | g.12290718G= | CA1610841940 | EDN1 | c.64+25G= (n.64+25G=) | |
6 | g.12290718G>T | CA2677349843 | EDN1 | c.64+25G>T (n.64+25G>T) | gnomAD v4 |
6 | g.12290720C>A | CA2677349844 | EDN1 | c.64+27C>A (n.64+27C>A) | gnomAD v4 |
6 | g.12290720C>T | CA2578531268 | EDN1 | c.64+27C>T (n.64+27C>T) | gnomAD v4 |
6 | g.12290721del | CA2677349845 | EDN1 | c.64+28del (n.64+28del) | gnomAD v4 |
6 | g.12290722C>A | CA2677349846 | EDN1 | c.64+29C>A (n.64+29C>A) | gnomAD v4 |
6 | g.12290722C= | CA1610841944 | EDN1 | c.64+29C= (n.64+29C=) | |
6 | g.12290722C>G | CA3638594 | EDN1 | c.64+29C>G (n.64+29C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290722C>T | CA3638593 | EDN1 | c.64+29C>T (n.64+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290723G>A | CA565606554 | EDN1 | c.64+30G>A (n.64+30G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290723G= | CA1610841950 | EDN1 | c.64+30G= (n.64+30G=) | |
6 | g.12290723G>T | CA134216969 | EDN1 | c.64+30G>T (n.64+30G>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290723_12290724insA | CA2677349847 | EDN1 | c.64+30_64+31insA (n.64+30_64+31insA) | gnomAD v4 |
6 | g.12290724G>T | CA2677349848 | EDN1 | c.64+31G>T (n.64+31G>T) | gnomAD v4 |
6 | g.12290726A>C | CA2677349849 | EDN1 | c.64+33A>C (n.64+33A>C) | gnomAD v4 |
6 | g.12290728T>A | CA2677349850 | EDN1 | c.64+35T>A (n.64+35T>A) | gnomAD v4 |
6 | g.12290730C>A | CA3638595 | EDN1 | c.64+37C>A (n.64+37C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290730C= | CA1610841953 | EDN1 | c.64+37C= (n.64+37C=) | |
6 | g.12290730C>T | CA2677349852 | EDN1 | c.64+37C>T (n.64+37C>T) | gnomAD v4 |
6 | g.12290730_12290735del | CA2677349851 | EDN1 | c.64+37_64+42del (n.64+37_64+42del) | gnomAD v4 |
6 | g.12290731A= | CA1610841956 | EDN1 | c.64+38A= (n.64+38A=) | |
6 | g.12290731A>G | CA3638596 | EDN1 | c.64+38A>G (n.64+38A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290731A>T | CA650509116 | EDN1 | c.64+38A>T (n.64+38A>T) | COSMIC |
6 | g.12290733G>A | CA2677349853 | EDN1 | c.64+40G>A (n.64+40G>A) | gnomAD v4 |
6 | g.12290733G>T | CA2677349854 | EDN1 | c.64+40G>T (n.64+40G>T) | gnomAD v4 |
6 | g.12290734T>C | CA3638597 | EDN1 | c.64+41T>C (n.64+41T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12290734T>G | CA565606565 | EDN1 | c.64+41T>G (n.64+41T>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12290734T= | CA1610841966 | EDN1 | c.64+41T= (n.64+41T=) | |
6 | g.12290735del | CA2677349855 | EDN1 | c.64+42del (n.64+42del) | gnomAD v4 |
6 | g.12290735T>C | CA2677349856 | EDN1 | c.64+42T>C (n.64+42T>C) | gnomAD v4 |
6 | g.12290737G>A | CA818251765 | EDN1 | c.64+44G>A (n.64+44G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290737G= | CA1610841968 | EDN1 | c.64+44G= (n.64+44G=) | |
6 | g.12290738T>A | CA2578531269 | EDN1 | c.64+45T>A (n.64+45T>A) | |
6 | g.12290738T>C | CA1086089875 | EDN1 | c.64+45T>C (n.64+45T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290738T= | CA1610841970 | EDN1 | c.64+45T= (n.64+45T=) | |
6 | g.12290739G>A | CA818251773 | EDN1 | c.64+46G>A (n.64+46G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290739G= | CA1610841972 | EDN1 | c.64+46G= (n.64+46G=) | |
6 | g.12290741G>A | CA2578531270 | EDN1 | c.64+48G>A (n.64+48G>A) | gnomAD v4 |
6 | g.12290741G= | CA1610841975 | EDN1 | c.64+48G= (n.64+48G=) | |
6 | g.12290741G>T | CA134216973 | EDN1 | c.64+48G>T (n.64+48G>T) | dbSNP |
6 | g.12290743T>C | CA565606567 | EDN1 | c.64+50T>C (n.64+50T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12290743T>G | CA3638598 | EDN1 | c.64+50T>G (n.64+50T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12290743T= | CA1610841980 | EDN1 | c.64+50T= (n.64+50T=) | |
6 | g.12290744C>A | CA2677349857 | EDN1 | c.64+51C>A (n.64+51C>A) | gnomAD v4 |
6 | g.12290745T>C | CA818251787 | EDN1 | c.64+52T>C (n.64+52T>C) | dbSNP |
6 | g.12290745T= | CA1610841984 | EDN1 | c.64+52T= (n.64+52T=) | |
6 | g.12290748T>C | CA134216976 | EDN1 | c.64+55T>C (n.64+55T>C) | dbSNP gnomAD v4 |
6 | g.12290748T= | CA1610841987 | EDN1 | c.64+55T= (n.64+55T=) | |
6 | g.12290748_12290749delinsTC | CA1610841989 | EDN1 | c.64+55_64+56delinsTC (n.64+55_64+56delinsTC) | |
6 | g.12290749C>A | CA2677349858 | EDN1 | c.64+56C>A (n.64+56C>A) | gnomAD v4 |
6 | g.12290749C>T | CA2677349859 | EDN1 | c.64+56C>T (n.64+56C>T) | gnomAD v4 |
6 | g.12290750del | CA818251790 | EDN1 | c.64+57del (n.64+57del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290750C>A | CA2578531271 | EDN1 | c.64+57C>A (n.64+57C>A) | gnomAD v4 |
6 | g.12290750C>T | CA2677349860 | EDN1 | c.64+57C>T (n.64+57C>T) | gnomAD v4 |
6 | g.12290751A= | CA1610841994 | EDN1 | c.64+58A= (n.64+58A=) | |
6 | g.12290751A>G | CA134216977 | EDN1 | c.64+58A>G (n.64+58A>G) | dbSNP |
6 | g.12290752C>A | CA2578531272 | EDN1 | c.64+59C>A (n.64+59C>A) | |
6 | g.12290753C>A | CA2677349861 | EDN1 | c.64+60C>A (n.64+60C>A) | gnomAD v4 |
6 | g.12290753C>T | CA650509117 | EDN1 | c.64+60C>T (n.64+60C>T) | COSMIC |
6 | g.12290754T>G | CA2578531273 | EDN1 | c.64+61T>G (n.64+61T>G) | gnomAD v4 |
6 | g.12290756C>T | CA2578531274 | EDN1 | c.64+63C>T (n.64+63C>T) | |
6 | g.12290758T>C | CA818251791 | EDN1 | c.64+65T>C (n.64+65T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290758T= | CA1610841995 | EDN1 | c.64+65T= (n.64+65T=) | |
6 | g.12290759G>C | CA134216980 | EDN1 | c.64+66G>C (n.64+66G>C) | dbSNP |
6 | g.12290759G= | CA1610841997 | EDN1 | c.64+66G= (n.64+66G=) | |
6 | g.12290760C>A | CA2677349862 | EDN1 | c.64+67C>A (n.64+67C>A) | gnomAD v4 |
6 | g.12290760C= | CA1610841998 | EDN1 | c.64+67C= (n.64+67C=) | |
6 | g.12290760C>T | CA818251795 | EDN1 | c.64+67C>T (n.64+67C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12290761T>A | CA2677349864 | EDN1 | c.64+68T>A (n.64+68T>A) | gnomAD v4 |
6 | g.12290764del | CA2677349863 | EDN1 | c.64+71del (n.64+71del) | gnomAD v4 |