Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25160982C>A | CA2658163000 | POMC | c.*99G>T (n.*99G>T) | gnomAD v4 |
2 | g.25160982C= | CA1239226617 | POMC | c.*99G= (n.*99G=) | |
2 | g.25160982C>T | CA767172362 | POMC | c.*99G>A (n.*99G>A) | dbSNP gnomAD v4 |
2 | g.25160983G>A | CA2658163003 | POMC | c.*98C>T (n.*98C>T) | gnomAD v4 |
2 | g.25160983G>C | CA2658163002 | POMC | c.*98C>G (n.*98C>G) | gnomAD v4 |
2 | g.25160983G>T | CA2658163001 | POMC | c.*98C>A (n.*98C>A) | gnomAD v4 |
2 | g.25160984del | CA2658163004 | POMC | c.*97del (n.*97del) | gnomAD v4 |
2 | g.25160984_25160987delinsACCC | CA1239226618 | POMC | c.*94_*97delinsGGGT (n.*94_*97delinsGGGT) | |
2 | g.25160985C>A | CA531358036 | POMC | c.*96G>T (n.*96G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25160985C= | CA1239226621 | POMC | c.*96G= (n.*96G=) | |
2 | g.25160985C>T | CA43684139 | POMC | c.*96G>A (n.*96G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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.25160986C>A | CA2658163005 | POMC | c.*95G>T (n.*95G>T) | gnomAD v4 |
2 | g.25160986C= | CA1239226622 | POMC | c.*95G= (n.*95G=) | |
2 | g.25160986C>T | CA531358037 | POMC | c.*95G>A (n.*95G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25160987C>T | CA2658163006 | POMC | c.*94G>A (n.*94G>A) | gnomAD v4 |
2 | g.25160988C>A | CA2658163007 | POMC | c.*93G>T (n.*93G>T) | gnomAD v4 |
2 | g.25160989C>T | CA2699006390 | POMC | c.*92G>A (n.*92G>A) | 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 |