Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.12295892del | CA2677350344 | EDN1 | c.534-70del (n.534-70del) c.531-70del (n.531-70del) | gnomAD v4 |
6 | g.12295893A>T | CA2677350346 | EDN1 | c.534-69A>T (n.534-69A>T) c.531-69A>T (n.531-69A>T) | gnomAD v4 |
6 | g.12295894C>A | CA2677350347 | EDN1 | c.534-68C>A (n.534-68C>A) c.531-68C>A (n.531-68C>A) | gnomAD v4 |
6 | g.12295894C>T | CA2677350348 | EDN1 | c.534-68C>T (n.534-68C>T) c.531-68C>T (n.531-68C>T) | gnomAD v4 |
6 | g.12295895A= | CA1610830748 | EDN1 | c.534-67A= (n.534-67A=) c.531-67A= (n.531-67A=) | |
6 | g.12295895A>G | CA134218043 | EDN1 | c.534-67A>G (n.534-67A>G) c.531-67A>G (n.531-67A>G) | dbSNP gnomAD v4 |
6 | g.12295895A>T | CA2578531338 | EDN1 | c.534-67A>T (n.534-67A>T) c.531-67A>T (n.531-67A>T) | |
6 | g.12295896T>A | CA2677350350 | EDN1 | c.534-66T>A (n.534-66T>A) c.531-66T>A (n.531-66T>A) | gnomAD v4 |
6 | g.12295896T>C | CA1086047684 | EDN1 | c.534-66T>C (n.534-66T>C) c.531-66T>C (n.531-66T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295896T= | CA1610830751 | EDN1 | c.534-66T= (n.534-66T=) c.531-66T= (n.531-66T=) | |
6 | g.12295896_12295900del | CA2677350349 | EDN1 | c.534-66_534-62del (n.534-66_534-62del) c.531-66_531-62del (n.531-66_531-62del) | gnomAD v4 |
6 | g.12295897G>A | CA134218044 | EDN1 | c.534-65G>A (n.534-65G>A) c.531-65G>A (n.531-65G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295897G= | CA1610830753 | EDN1 | c.534-65G= (n.534-65G=) c.531-65G= (n.531-65G=) | |
6 | g.12295897G>T | CA2677350351 | EDN1 | c.534-65G>T (n.534-65G>T) c.531-65G>T (n.531-65G>T) | gnomAD v4 |
6 | g.12295899T>C | CA2677350352 | EDN1 | c.534-63T>C (n.534-63T>C) c.531-63T>C (n.531-63T>C) | gnomAD v4 |
6 | g.12295900T>C | CA2508751960 | EDN1 | c.534-62T>C (n.534-62T>C) c.531-62T>C (n.531-62T>C) | gnomAD v4 |
6 | g.12295900T>G | CA134218046 | EDN1 | c.534-62T>G (n.534-62T>G) c.531-62T>G (n.531-62T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295900T= | CA1610830756 | EDN1 | c.534-62T= (n.534-62T=) c.531-62T= (n.531-62T=) | |
6 | g.12295901C= | CA1610830760 | EDN1 | c.534-61C= (n.534-61C=) c.531-61C= (n.531-61C=) | |
6 | g.12295901C>G | CA2677350353 | EDN1 | c.534-61C>G (n.534-61C>G) c.531-61C>G (n.531-61C>G) | gnomAD v4 |
6 | g.12295901C>T | CA818232011 | EDN1 | c.534-61C>T (n.534-61C>T) c.531-61C>T (n.531-61C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295902T>G | CA2677350354 | EDN1 | c.534-60T>G (n.534-60T>G) c.531-60T>G (n.531-60T>G) | gnomAD v4 |
6 | g.12295905T>G | CA2545643599 | EDN1 | c.534-57T>G (n.534-57T>G) c.531-57T>G (n.531-57T>G) | |
6 | g.12295906G>A | CA2839268764 | EDN1 | c.534-56G>A (n.534-56G>A) c.531-56G>A (n.531-56G>A) | |
6 | g.12295906G>C | CA2677350355 | EDN1 | c.534-56G>C (n.534-56G>C) c.531-56G>C (n.531-56G>C) | gnomAD v4 |
6 | g.12295906G= | CA1610830763 | EDN1 | c.534-56G= (n.534-56G=) c.531-56G= (n.531-56G=) | |
6 | g.12295906G>T | CA818232013 | EDN1 | c.534-56G>T (n.534-56G>T) c.531-56G>T (n.531-56G>T) | dbSNP gnomAD v4 |
6 | g.12295907C>A | CA2677350356 | EDN1 | c.534-55C>A (n.534-55C>A) c.531-55C>A (n.531-55C>A) | gnomAD v4 |
6 | g.12295907C= | CA1610830765 | EDN1 | c.534-55C= (n.534-55C=) c.531-55C= (n.531-55C=) | |
6 | g.12295907C>G | CA565609600 | EDN1 | c.534-55C>G (n.534-55C>G) c.531-55C>G (n.531-55C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295907C>T | CA2677350357 | EDN1 | c.534-55C>T (n.534-55C>T) c.531-55C>T (n.531-55C>T) | gnomAD v4 |
6 | g.12295908C>A | CA2677350358 | EDN1 | c.534-54C>A (n.534-54C>A) c.531-54C>A (n.531-54C>A) | gnomAD v4 |
6 | g.12295908C= | CA1610830769 | EDN1 | c.534-54C= (n.534-54C=) c.531-54C= (n.531-54C=) | |
6 | g.12295908C>G | CA2677350359 | EDN1 | c.534-54C>G (n.534-54C>G) c.531-54C>G (n.531-54C>G) | gnomAD v4 |
6 | g.12295908C>T | CA565609604 | EDN1 | c.534-54C>T (n.534-54C>T) c.531-54C>T (n.531-54C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295909A= | CA1610830771 | EDN1 | c.534-53A= (n.534-53A=) c.531-53A= (n.531-53A=) | |
6 | g.12295909A>G | CA565609609 | EDN1 | c.534-53A>G (n.534-53A>G) c.531-53A>G (n.531-53A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295909A>T | CA2841588606 | EDN1 | c.534-53A>T (n.534-53A>T) c.531-53A>T (n.531-53A>T) | |
6 | g.12295910A>C | CA2677350360 | EDN1 | c.534-52A>C (n.534-52A>C) c.531-52A>C (n.531-52A>C) | gnomAD v4 |
6 | g.12295912G>T | CA2677350361 | EDN1 | c.534-50G>T (n.534-50G>T) c.531-50G>T (n.531-50G>T) | gnomAD v4 |
6 | g.12295912_12295915delinsGGGT | CA1610830773 | EDN1 | c.534-50_534-47delinsGGGT (n.534-50_534-47delinsGGGT) c.531-50_531-47delinsGGGT (n.531-50_531-47delinsGGGT) | |
6 | g.12295913G>A | CA2677350363 | EDN1 | c.534-49G>A (n.534-49G>A) c.531-49G>A (n.531-49G>A) | gnomAD v4 |
6 | g.12295913G>C | CA2677350362 | EDN1 | c.534-49G>C (n.534-49G>C) c.531-49G>C (n.531-49G>C) | gnomAD v4 |
6 | g.12295913G= | CA1610830779 | EDN1 | c.534-49G= (n.534-49G=) c.531-49G= (n.531-49G=) | |
6 | g.12295913G>T | CA565609629 | EDN1 | c.534-49G>T (n.534-49G>T) c.531-49G>T (n.531-49G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12295914_12295916del | CA3638742 | EDN1 | c.534-48_534-46del (n.534-48_534-46del) c.531-48_531-46del (n.531-48_531-46del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12295914G>A | CA565609634 | EDN1 | c.534-48G>A (n.534-48G>A) c.531-48G>A (n.531-48G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12295914G>C | CA3638743 | EDN1 | c.534-48G>C (n.534-48G>C) c.531-48G>C (n.531-48G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295914G= | CA1610830782 | EDN1 | c.534-48G= (n.534-48G=) c.531-48G= (n.531-48G=) | |
6 | g.12295914G>T | CA448427928 | EDN1 | c.534-48G>T (n.534-48G>T) c.531-48G>T (n.531-48G>T) | gnomAD v4 |
6 | g.12295916G>A | CA2677350364 | EDN1 | c.534-46G>A (n.534-46G>A) c.531-46G>A (n.531-46G>A) | gnomAD v4 |
6 | g.12295916G>T | CA2677350365 | EDN1 | c.534-46G>T (n.534-46G>T) c.531-46G>T (n.531-46G>T) | gnomAD v4 |
6 | g.12295917_12295918delinsAT | CA1610830786 | EDN1 | c.534-45_534-44delinsAT (n.534-45_534-44delinsAT) c.531-45_531-44delinsAT (n.531-45_531-44delinsAT) | |
6 | g.12295918T>A | CA2677350366 | EDN1 | c.534-44T>A (n.534-44T>A) c.531-44T>A (n.531-44T>A) | gnomAD v4 |
6 | g.12295918T>C | CA3638745 | EDN1 | c.534-44T>C (n.534-44T>C) c.531-44T>C (n.531-44T>C) | dbSNP ExAC gnomAD v2 |
6 | g.12295918T>G | CA565609642 | EDN1 | c.534-44T>G (n.534-44T>G) c.531-44T>G (n.531-44T>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12295918T= | CA1610830797 | EDN1 | c.534-44T= (n.534-44T=) c.531-44T= (n.531-44T=) | |
6 | g.12295924dup | CA3638744 | EDN1 | c.534-38dup (n.534-38dup) c.531-38dup (n.531-38dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295923_12295924dup | CA565609646 | EDN1 | c.534-39_534-38dup (n.534-39_534-38dup) c.531-39_531-38dup (n.531-39_531-38dup) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12295924del | CA818232043 | EDN1 | c.534-38del (n.534-38del) c.531-38del (n.531-38del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295920T>A | CA2677350367 | EDN1 | c.534-42T>A (n.534-42T>A) c.531-42T>A (n.531-42T>A) | gnomAD v4 |
6 | g.12295921T>C | CA2677350368 | EDN1 | c.534-41T>C (n.534-41T>C) c.531-41T>C (n.531-41T>C) | gnomAD v4 |
6 | g.12295922T>C | CA2677350369 | EDN1 | c.534-40T>C (n.534-40T>C) c.531-40T>C (n.531-40T>C) | gnomAD v4 |
6 | g.12295924T>A | CA3638747 | EDN1 | c.534-38T>A (n.534-38T>A) c.531-38T>A (n.531-38T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295924T>C | CA818232050 | EDN1 | c.534-38T>C (n.534-38T>C) c.531-38T>C (n.531-38T>C) | dbSNP gnomAD v4 |
6 | g.12295924T= | CA1610830802 | EDN1 | c.534-38T= (n.534-38T=) c.531-38T= (n.531-38T=) | |
6 | g.12295925A= | CA1610830808 | EDN1 | c.534-37A= (n.534-37A=) c.531-37A= (n.531-37A=) | |
6 | g.12295925A>T | CA3638748 | EDN1 | c.534-37A>T (n.534-37A>T) c.531-37A>T (n.531-37A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295928dup | CA3638746 | EDN1 | c.534-34dup (n.534-34dup) c.531-34dup (n.531-34dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295928del | CA2578531339 | EDN1 | c.534-34del (n.534-34del) c.531-34del (n.531-34del) | |
6 | g.12295928A= | CA1610830811 | EDN1 | c.534-34A= (n.534-34A=) c.531-34A= (n.531-34A=) | |
6 | g.12295928A>G | CA3638749 | EDN1 | c.534-34A>G (n.534-34A>G) c.531-34A>G (n.531-34A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12295930A>G | CA2677350370 | EDN1 | c.534-32A>G (n.534-32A>G) c.531-32A>G (n.531-32A>G) | gnomAD v4 |
6 | g.12295931A= | CA1610830816 | EDN1 | c.534-31A= (n.534-31A=) c.531-31A= (n.531-31A=) | |
6 | g.12295931A>C | CA818232059 | EDN1 | c.534-31A>C (n.534-31A>C) c.531-31A>C (n.531-31A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295931A>G | CA565609672 | EDN1 | c.534-31A>G (n.534-31A>G) c.531-31A>G (n.531-31A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12295932C= | CA1610830819 | EDN1 | c.534-30C= (n.534-30C=) c.531-30C= (n.531-30C=) | |
6 | g.12295932C>G | CA3638750 | EDN1 | c.534-30C>G (n.534-30C>G) c.531-30C>G (n.531-30C>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.12295932C>T | CA3638751 | EDN1 | c.534-30C>T (n.534-30C>T) c.531-30C>T (n.531-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12295933A>G | CA448427930 | EDN1 | c.534-29A>G (n.534-29A>G) c.531-29A>G (n.531-29A>G) | |
6 | g.12295934T>C | CA3638752 | EDN1 | c.534-28T>C (n.534-28T>C) c.531-28T>C (n.531-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295934T= | CA1610830823 | EDN1 | c.534-28T= (n.534-28T=) c.531-28T= (n.531-28T=) | |
6 | g.12295935_12295936del | CA2578531340 | EDN1 | c.534-27_534-26del (n.534-27_534-26del) c.531-27_531-26del (n.531-27_531-26del) | |
6 | g.12295937G>T | CA2841588607 | EDN1 | c.534-25G>T (n.534-25G>T) c.531-25G>T (n.531-25G>T) | |
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 gnomAD v3 gnomAD v4 |
6 | g.12295941T>C | CA2677350371 | EDN1 | c.534-21T>C (n.534-21T>C) c.531-21T>C (n.531-21T>C) | dbSNP gnomAD v4 |
6 | g.12295941T>G | CA565609684 | EDN1 | c.534-21T>G (n.534-21T>G) c.531-21T>G (n.531-21T>G) | dbSNP gnomAD v2 gnomAD v4 |
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) | dbSNP gnomAD v4 |
6 | g.12295942C>G | CA2677350372 | EDN1 | c.534-20C>G (n.534-20C>G) c.531-20C>G (n.531-20C>G) | gnomAD v4 |
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 v2 gnomAD v4 |
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) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295946T>C | CA2770023931 | EDN1 | c.534-16T>C (n.534-16T>C) c.531-16T>C (n.531-16T>C) | |
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) | |
6 | g.12295969A>G | CA362857232 | EDN1 | c.541A>G (p.Thr181Ala) c.538A>G (p.Thr180Ala) | |
6 | g.12295969A>T | CA362857233 | EDN1 | c.541A>T (p.Thr181Ser) c.538A>T (p.Thr180Ser) | |
6 | g.12295970C>A | CA362857234 | EDN1 | c.542C>A (p.Thr181Asn) c.539C>A (p.Thr180Asn) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295970C= | CA1610830865 | EDN1 | c.542C= (p.Thr181=) c.539C= (p.Thr180=) | |
6 | g.12295970C>G | CA362857235 | EDN1 | c.542C>G (p.Thr181Ser) c.539C>G (p.Thr180Ser) | dbSNP |
6 | g.12295970C>T | CA362857236 | EDN1 | c.542C>T (p.Thr181Ile) c.539C>T (p.Thr180Ile) | |
6 | g.12295971C>A | CA3638761 | EDN1 | c.543C>A (p.Thr181=) c.540C>A (p.Thr180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12295971C= | CA1610830868 | EDN1 | c.543C= (p.Thr181=) c.540C= (p.Thr180=) | |
6 | g.12295971C>G | CA448427937 | EDN1 | c.543C>G (p.Thr181=) c.540C>G (p.Thr180=) | |
6 | g.12295971C>T | CA448427938 | EDN1 | c.543C>T (p.Thr181=) c.540C>T (p.Thr180=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12295972A= | CA1610830870 | EDN1 | c.544A= (p.Met182=) c.541A= (p.Met181=) | |
6 | g.12295972A>C | CA3638762 | EDN1 | c.544A>C (p.Met182Leu) c.541A>C (p.Met181Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12295972A>G | CA362857237 | EDN1 | c.544A>G (p.Met182Val) c.541A>G (p.Met181Val) | |
6 | g.12295972A>T | CA362857238 | EDN1 | c.544A>T (p.Met182Leu) c.541A>T (p.Met181Leu) | |
6 | g.12295973T>A | CA362857239 | EDN1 | c.545T>A (p.Met182Lys) c.542T>A (p.Met181Lys) | |
6 | g.12295973T>C | CA362857240 | EDN1 | c.545T>C (p.Met182Thr) c.542T>C (p.Met181Thr) | gnomAD v4 |
6 | g.12295973T>G | CA362857241 | EDN1 | c.545T>G (p.Met182Arg) c.542T>G (p.Met181Arg) | |
6 | g.12295974G>A | CA362857242 | EDN1 | c.546G>A (p.Met182Ile) c.543G>A (p.Met181Ile) | COSMIC |
6 | g.12295974G>C | CA362857244 | EDN1 | c.546G>C (p.Met182Ile) c.543G>C (p.Met181Ile) | gnomAD v4 |
6 | g.12295974G>T | CA362857243 | EDN1 | c.546G>T (p.Met182Ile) c.543G>T (p.Met181Ile) | |
6 | g.12295975A>C | CA448427939 | EDN1 | c.547A>C (p.Arg183=) c.544A>C (p.Arg182=) | |
6 | g.12295975A>G | CA362857245 | EDN1 | c.547A>G (p.Arg183Gly) c.544A>G (p.Arg182Gly) | |
6 | g.12295975A>T | CA362857246 | EDN1 | c.547A>T (p.Arg183Ter) c.544A>T (p.Arg182Ter) | |
6 | g.12295976G>A | CA362857247 | EDN1 | c.548G>A (p.Arg183Lys) c.545G>A (p.Arg182Lys) | dbSNP COSMIC |
6 | g.12295976G>C | CA362857248 | EDN1 | c.548G>C (p.Arg183Thr) c.545G>C (p.Arg182Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12295976G= | CA1610830874 | EDN1 | c.548G= (p.Arg183=) c.545G= (p.Arg182=) | |
6 | g.12295976G>T | CA362857249 | EDN1 | c.548G>T (p.Arg183Ile) c.545G>T (p.Arg182Ile) | |
6 | g.12295977A>C | CA362857250 | EDN1 | c.549A>C (p.Arg183Ser) c.546A>C (p.Arg182Ser) | |
6 | g.12295977A>G | CA448427940 | EDN1 | c.549A>G (p.Arg183=) c.546A>G (p.Arg182=) | |
6 | g.12295977A>T | CA362857251 | EDN1 | c.549A>T (p.Arg183Ser) c.546A>T (p.Arg182Ser) | |
6 | g.12295978A>C | CA362857252 | EDN1 | c.550A>C (p.Asn184His) c.547A>C (p.Asn183His) | |
6 | g.12295978A>G | CA362857253 | EDN1 | c.550A>G (p.Asn184Asp) c.547A>G (p.Asn183Asp) | |
6 | g.12295978A>T | CA362857254 | EDN1 | c.550A>T (p.Asn184Tyr) c.547A>T (p.Asn183Tyr) | |
6 | g.12295979A>C | CA362857257 | EDN1 | c.551A>C (p.Asn184Thr) c.548A>C (p.Asn183Thr) | |
6 | g.12295979A>G | CA362857256 | EDN1 | c.551A>G (p.Asn184Ser) c.548A>G (p.Asn183Ser) | |
6 | g.12295979A>T | CA362857255 | EDN1 | c.551A>T (p.Asn184Ile) c.548A>T (p.Asn183Ile) | |
6 | g.12295980_12295981del | CA2677350377 | EDN1 | c.552_553del (p.Asn184LysfsTer8) c.549_550del (p.Asn183LysfsTer8) | gnomAD v4 |
6 | g.12295980C>A | CA362857258 | EDN1 | c.552C>A (p.Asn184Lys) c.549C>A (p.Asn183Lys) | |
6 | g.12295980C>G | CA362857259 | EDN1 | c.552C>G (p.Asn184Lys) c.549C>G (p.Asn183Lys) | |
6 | g.12295980C>T | CA448427941 | EDN1 | c.552C>T (p.Asn184=) c.549C>T (p.Asn183=) | |
6 | g.12295981A>C | CA362857260 | EDN1 | c.553A>C (p.Ser185Arg) c.550A>C (p.Ser184Arg) | |
6 | g.12295981A>G | CA362857261 | EDN1 | c.553A>G (p.Ser185Gly) c.550A>G (p.Ser184Gly) | |
6 | g.12295981A>T | CA362857262 | EDN1 | c.553A>T (p.Ser185Cys) c.550A>T (p.Ser184Cys) | |
6 | g.12295982G>A | CA362857263 | EDN1 | c.554G>A (p.Ser185Asn) c.551G>A (p.Ser184Asn) | |
6 | g.12295982G>C | CA362857264 | EDN1 | c.554G>C (p.Ser185Thr) c.551G>C (p.Ser184Thr) | |
6 | g.12295982G>T | CA362857265 | EDN1 | c.554G>T (p.Ser185Ile) c.551G>T (p.Ser184Ile) | |
6 | g.12295983C>A | CA362857266 | EDN1 | c.555C>A (p.Ser185Arg) c.552C>A (p.Ser184Arg) | gnomAD v4 |
6 | g.12295983C= | CA1610830877 | EDN1 | c.555C= (p.Ser185=) c.552C= (p.Ser184=) | |
6 | g.12295983C>G | CA362857267 | EDN1 | c.555C>G (p.Ser185Arg) c.552C>G (p.Ser184Arg) | |
6 | g.12295983C>T | CA134218069 | EDN1 | c.555C>T (p.Ser185=) c.552C>T (p.Ser184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295984G>A | CA3638763 | EDN1 | c.556G>A (p.Val186Ile) c.553G>A (p.Val185Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12295984G>C | CA362857268 | EDN1 | c.556G>C (p.Val186Leu) c.553G>C (p.Val185Leu) | gnomAD v4 |
6 | g.12295984G= | CA1610830882 | EDN1 | c.556G= (p.Val186=) c.553G= (p.Val185=) | |
6 | g.12295984G>T | CA362857269 | EDN1 | c.556G>T (p.Val186Phe) c.553G>T (p.Val185Phe) | |
6 | g.12295985T>A | CA362857270 | EDN1 | c.557T>A (p.Val186Asp) c.554T>A (p.Val185Asp) | COSMIC |
6 | g.12295985T>C | CA362857272 | EDN1 | c.557T>C (p.Val186Ala) c.554T>C (p.Val185Ala) | |
6 | g.12295985T>G | CA362857271 | EDN1 | c.557T>G (p.Val186Gly) c.554T>G (p.Val185Gly) | |
6 | g.12295986C>A | CA448427942 | EDN1 | c.558C>A (p.Val186=) c.555C>A (p.Val185=) | gnomAD v4 |
6 | g.12295986C= | CA1610830885 | EDN1 | c.558C= (p.Val186=) c.555C= (p.Val185=) | |
6 | g.12295986C>G | CA448427944 | EDN1 | c.558C>G (p.Val186=) c.555C>G (p.Val185=) | dbSNP |
6 | g.12295986C>T | CA448427943 | EDN1 | c.558C>T (p.Val186=) c.555C>T (p.Val185=) | |
6 | g.12295987A>C | CA362857273 | EDN1 | c.559A>C (p.Lys187Gln) c.556A>C (p.Lys186Gln) | |
6 | g.12295987A>G | CA362857274 | EDN1 | c.559A>G (p.Lys187Glu) c.556A>G (p.Lys186Glu) | |
6 | g.12295987A>T | CA362857275 | EDN1 | c.559A>T (p.Lys187Ter) c.556A>T (p.Lys186Ter) | |
6 | g.12295988A>C | CA362857276 | EDN1 | c.560A>C (p.Lys187Thr) c.557A>C (p.Lys186Thr) | |
6 | g.12295988A>G | CA362857277 | EDN1 | c.560A>G (p.Lys187Arg) c.557A>G (p.Lys186Arg) | COSMIC |
6 | g.12295988A>T | CA362857278 | EDN1 | c.560A>T (p.Lys187Ile) c.557A>T (p.Lys186Ile) | |
6 | g.12295989A>C | CA362857279 | EDN1 | c.561A>C (p.Lys187Asn) c.558A>C (p.Lys186Asn) | |
6 | g.12295989A>G | CA448427945 | EDN1 | c.561A>G (p.Lys187=) c.558A>G (p.Lys186=) | |
6 | g.12295989A>T | CA362857280 | EDN1 | c.561A>T (p.Lys187Asn) c.558A>T (p.Lys186Asn) | |
6 | g.12295990T>A | CA362857281 | EDN1 | c.562T>A (p.Ser188Thr) c.559T>A (p.Ser187Thr) | |
6 | g.12295990T>C | CA362857282 | EDN1 | c.562T>C (p.Ser188Pro) c.559T>C (p.Ser187Pro) | |
6 | g.12295990T>G | CA362857283 | EDN1 | c.562T>G (p.Ser188Ala) c.559T>G (p.Ser187Ala) | |
6 | g.12295991C>A | CA362857285 | EDN1 | c.563C>A (p.Ser188Ter) c.560C>A (p.Ser187Ter) | |
6 | g.12295991C= | CA1610830888 | EDN1 | c.563C= (p.Ser188=) c.560C= (p.Ser187=) | |
6 | g.12295991C>G | CA362857286 | EDN1 | c.563C>G (p.Ser188Ter) c.560C>G (p.Ser187Ter) | |
6 | g.12295991C>T | CA362857284 | EDN1 | c.563C>T (p.Ser188Leu) c.560C>T (p.Ser187Leu) | dbSNP |
6 | g.12295992A>C | CA448427946 | EDN1 | c.564A>C (p.Ser188=) c.561A>C (p.Ser187=) | |
6 | g.12295992A>G | CA448427947 | EDN1 | c.564A>G (p.Ser188=) c.561A>G (p.Ser187=) | |
6 | g.12295992A>T | CA448427948 | EDN1 | c.564A>T (p.Ser188=) c.561A>T (p.Ser187=) |