Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25160834_25160835del | CA2523029418 | |||
2 | g.25160834T>C | CA2658162888 | gnomAD v4 | ||
2 | g.25160835G>A | CA767172297 | dbSNP gnomAD v4 | ||
2 | g.25160835G>C | CA2658162889 | gnomAD v4 | ||
2 | g.25160835G= | CA1239226510 | |||
2 | g.25160835G>T | CA2658162890 | gnomAD v4 | ||
2 | g.25160836C>A | CA2658162891 | gnomAD v4 | ||
2 | g.25160836C= | CA1239226511 | |||
2 | g.25160836C>T | CA767172298 | dbSNP gnomAD v4 | ||
2 | g.25160837T>A | CA2658162892 | gnomAD v4 | ||
2 | g.25160837T>C | CA2658162893 | gnomAD v4 | ||
2 | g.25160838C>T | CA2749203929 | |||
2 | g.25160839C>A | CA2658162894 | gnomAD v4 | ||
2 | g.25160839C>T | CA2658162895 | gnomAD v4 | ||
2 | g.25160840T>C | CA2658162896 | gnomAD v4 | ||
2 | g.25160842C>T | CA2658162897 | gnomAD v4 | ||
2 | g.25160843G>A | CA1028505034 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.25160843G= | CA1239226515 | |||
2 | g.25160843G>T | CA2658162898 | gnomAD v4 | ||
2 | g.25160844A>T | CA2658162899 | gnomAD v4 | ||
2 | g.25160845T>C | CA1239226517 | dbSNP | ||
2 | g.25160845T= | CA1239226516 | |||
2 | g.25160847C= | CA1239226519 | |||
2 | g.25160847C>T | CA43684070 | dbSNP gnomAD v3 gnomAD v4 | ||
2 | g.25160848A= | CA1239226523 | |||
2 | g.25160848A>G | CA1239226522 | dbSNP gnomAD v4 | ||
2 | g.25160849T>C | CA43684071 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
2 | g.25160849T= | CA1239226524 | |||
2 | g.25160850G>T | CA2658162900 | gnomAD v4 | ||
2 | g.25160851C>A | CA2658162901 | gnomAD v4 | ||
2 | g.25160852T>C | CA2658162902 | gnomAD v4 | ||
2 | g.25160853G>A | CA1028505039 | POMC | c.*228C>T (n.*228C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25160853G= | CA1239226526 | POMC | c.*228C= (n.*228C=) | |
2 | g.25160853G>T | CA2658162903 | POMC | c.*228C>A (n.*228C>A) | gnomAD v4 |
2 | g.25160854C>T | CA2658162904 | POMC | c.*227G>A (n.*227G>A) | gnomAD v4 |
2 | g.25160854_25160857delinsCTGT | CA1239226527 | POMC | c.*224_*227delinsACAG (n.*224_*227delinsACAG) | |
2 | g.25160855T>A | CA2658162905 | POMC | c.*226A>T (n.*226A>T) | gnomAD v4 |
2 | g.25160856_25160858del | CA43684074 | POMC | c.*224_*226del (n.*224_*226del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25160856G>C | CA2658162906 | POMC | c.*225C>G (n.*225C>G) | gnomAD v4 |
2 | g.25160856G>T | CA2658162907 | POMC | c.*225C>A (n.*225C>A) | gnomAD v4 |
2 | g.25160857T>G | CA2658162908 | POMC | c.*224A>C (n.*224A>C) | gnomAD v4 |
2 | g.25160859_25160862del | CA2749203930 | POMC | c.*221_*224del (n.*221_*224del) | |
2 | g.25160859A>C | CA2658162909 | POMC | c.*222T>G (n.*222T>G) | gnomAD v4 |
2 | g.25160860T>C | CA1239226531 | POMC | c.*221A>G (n.*221A>G) | dbSNP |
2 | g.25160860T= | CA1239226530 | POMC | c.*221A= (n.*221A=) | |
2 | g.25160861T>A | CA2658162910 | POMC | c.*220A>T (n.*220A>T) | gnomAD v4 |
2 | g.25160861T>C | CA2658162911 | POMC | c.*220A>G (n.*220A>G) | gnomAD v4 |
2 | g.25160863G>A | CA2658162912 | POMC | c.*218C>T (n.*218C>T) | gnomAD v4 |
2 | g.25160865C>A | CA2658162913 | POMC | c.*216G>T (n.*216G>T) | gnomAD v4 |
2 | g.25160865C>T | CA2658162914 | POMC | c.*216G>A (n.*216G>A) | gnomAD v4 |