Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25160990dup | CA43684134 | POMC | c.*96dup (n.*96dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25160990del | CA1239226620 | POMC | c.*96del (n.*96del) | dbSNP gnomAD v4 |
2 | g.25160988_25160990del | CA1239226619 | POMC | c.*94_*96del (n.*94_*96del) | dbSNP |
2 | g.25160990C>A | CA1239226625 | POMC | c.*91G>T (n.*91G>T) | dbSNP gnomAD v4 |
2 | g.25160990C= | CA1239226624 | POMC | c.*91G= (n.*91G=) | |
2 | g.25160990C>G | CA43684155 | POMC | c.*91G>C (n.*91G>C) | dbSNP gnomAD v4 |
2 | g.25160990C>T | CA2658163008 | POMC | c.*91G>A (n.*91G>A) | gnomAD v4 |
2 | g.25160991A>G | CA2658163009 | POMC | c.*90T>C (n.*90T>C) | gnomAD v4 |
2 | g.25160992G>C | CA2658163011 | POMC | c.*89C>G (n.*89C>G) | gnomAD v4 |
2 | g.25160993G>A | CA1239226627 | POMC | c.*88C>T (n.*88C>T) | dbSNP gnomAD v4 |
2 | g.25160993G>C | CA2576693505 | POMC | c.*88C>G (n.*88C>G) | |
2 | g.25160993G= | CA1239226626 | POMC | c.*88C= (n.*88C=) | |
2 | g.25160993G>T | CA2658163012 | POMC | c.*88C>A (n.*88C>A) | gnomAD v4 |
2 | g.25160994C>A | CA2658163013 | POMC | c.*87G>T (n.*87G>T) | gnomAD v4 |
2 | g.25160996G>C | CA1239226629 | POMC | c.*85C>G (n.*85C>G) | dbSNP |
2 | g.25160996G= | CA1239226628 | POMC | c.*85C= (n.*85C=) | |
2 | g.25160996G>T | CA2658163014 | POMC | c.*85C>A (n.*85C>A) | gnomAD v4 |
2 | g.25160998del | CA2576693506 | POMC | c.*85del (n.*85del) | |
2 | g.25160997G>T | CA2658163015 | POMC | c.*84C>A (n.*84C>A) | gnomAD v4 |
2 | g.25160998G>A | CA2658163016 | POMC | c.*83C>T (n.*83C>T) | gnomAD v4 |
2 | g.25160998G>C | CA767172374 | POMC | c.*83C>G (n.*83C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25160998G= | CA1239226630 | POMC | c.*83C= (n.*83C=) | |
2 | g.25160999A>C | CA2658163017 | POMC | c.*82T>G (n.*82T>G) | gnomAD v4 |
2 | g.25160999A>G | CA2576693507 | POMC | c.*82T>C (n.*82T>C) | |
2 | g.25161000G>A | CA767172378 | POMC | c.*81C>T (n.*81C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161000G= | CA1239226631 | POMC | c.*81C= (n.*81C=) | |
2 | g.25161000G>T | CA2658163018 | POMC | c.*81C>A (n.*81C>A) | gnomAD v4 |
2 | g.25161002del | CA2658163020 | POMC | c.*79del (n.*79del) | gnomAD v4 |
2 | g.25161002C>A | CA767172379 | POMC | c.*79G>T (n.*79G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161002C= | CA1239226634 | POMC | c.*79G= (n.*79G=) | |
2 | g.25161002C>T | CA2658163021 | POMC | c.*79G>A (n.*79G>A) | gnomAD v4 |
2 | g.25161003G>A | CA43684162 | POMC | c.*78C>T (n.*78C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161003G>C | CA767172385 | POMC | c.*78C>G (n.*78C>G) | dbSNP gnomAD v4 |
2 | g.25161003G= | CA1239226639 | POMC | c.*78C= (n.*78C=) | |
2 | g.25161003G>T | CA43684164 | POMC | c.*78C>A (n.*78C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161004G>A | CA2576693508 | POMC | c.*77C>T (n.*77C>T) | gnomAD v4 |
2 | g.25161004G>T | CA2658163023 | POMC | c.*77C>A (n.*77C>A) | gnomAD v4 |
2 | g.25161005C>T | CA2658163024 | POMC | c.*76G>A (n.*76G>A) | gnomAD v4 |
2 | g.25161006A>G | CA2658163025 | POMC | c.*75T>C (n.*75T>C) | gnomAD v4 |
2 | g.25161006A>T | CA2658163026 | POMC | c.*75T>A (n.*75T>A) | gnomAD v4 |
2 | g.25161007G>A | CA2658163027 | POMC | c.*74C>T (n.*74C>T) | gnomAD v4 |
2 | g.25161007G>T | CA2658163028 | POMC | c.*74C>A (n.*74C>A) | gnomAD v4 |
2 | g.25161008C>A | CA2658163030 | POMC | c.*73G>T (n.*73G>T) | gnomAD v4 |
2 | g.25161008C>T | CA2658163031 | POMC | c.*73G>A (n.*73G>A) | gnomAD v4 |
2 | g.25161009A>G | CA2658163032 | POMC | c.*72T>C (n.*72T>C) | gnomAD v4 |
2 | g.25161010G>A | CA1028505083 | POMC | c.*71C>T (n.*71C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161010G= | CA1239226641 | POMC | c.*71C= (n.*71C=) | |
2 | g.25161010G>T | CA2658163033 | POMC | c.*71C>A (n.*71C>A) | gnomAD v4 |
2 | g.25161011G>A | CA43684166 | POMC | c.*70C>T (n.*70C>T) | dbSNP gnomAD v4 |
2 | g.25161011G= | CA1239226643 | POMC | c.*70C= (n.*70C=) |