Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161554C>A | CA346067289 | POMC | c.331G>T (p.Glu111Ter) | gnomAD v4 |
2 | g.25161554C>G | CA346067290 | POMC | c.331G>C (p.Glu111Gln) | |
2 | g.25161554C>T | CA346067291 | POMC | c.331G>A (p.Glu111Lys) | gnomAD v4 |
2 | g.25161555G>A | CA425353534 | POMC | c.330C>T (p.Gly110=) | dbSNP gnomAD v4 |
2 | g.25161555G>C | CA425353535 | POMC | c.330C>G (p.Gly110=) | |
2 | g.25161555G= | CA1239227776 | POMC | c.330C= (p.Gly110=) | |
2 | g.25161555G>T | CA425353537 | POMC | c.330C>A (p.Gly110=) | gnomAD v4 |
2 | g.25161556C>A | CA346067294 | POMC | c.329G>T (p.Gly110Val) | |
2 | g.25161556C>G | CA346067293 | POMC | c.329G>C (p.Gly110Ala) | |
2 | g.25161556C>T | CA346067292 | POMC | c.329G>A (p.Gly110Asp) | gnomAD v4 |
2 | g.25161557C>A | CA346067295 | POMC | c.328G>T (p.Gly110Cys) | gnomAD v4 |
2 | g.25161557C= | CA1239227778 | POMC | c.328G= (p.Gly110=) | |
2 | g.25161557C>G | CA346067297 | POMC | c.328G>C (p.Gly110Arg) | |
2 | g.25161557C>T | CA346067296 | POMC | c.328G>A (p.Gly110Ser) | dbSNP gnomAD v4 |
2 | g.25161558C>A | CA425353539 | POMC | c.327G>T (p.Ala109=) | dbSNP |
2 | g.25161558C= | CA1239227782 | POMC | c.327G= (p.Ala109=) | |
2 | g.25161558C>G | CA1555319 | POMC | c.327G>C (p.Ala109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161558C>T | CA425353540 | POMC | c.327G>A (p.Ala109=) | gnomAD v4 |
2 | g.25161559G>A | CA346067298 | POMC | c.326C>T (p.Ala109Val) | gnomAD v4 COSMIC |
2 | g.25161559G>C | CA346067299 | POMC | c.326C>G (p.Ala109Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161559G= | CA1239227784 | POMC | c.326C= (p.Ala109=) | |
2 | g.25161559G>T | CA346067300 | POMC | c.326C>A (p.Ala109Glu) | gnomAD v4 |
2 | g.25161560C>A | CA346067301 | POMC | c.325G>T (p.Ala109Ser) | gnomAD v4 |
2 | g.25161560C= | CA1239227790 | POMC | c.325G= (p.Ala109=) | |
2 | g.25161560C>G | CA346067302 | POMC | c.325G>C (p.Ala109Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161560C>T | CA43684782 | POMC | c.325G>A (p.Ala109Thr) | dbSNP gnomAD v4 |
2 | g.25161561T>A | CA425353550 | POMC | c.324A>T (p.Ser108=) | |
2 | g.25161561T>C | CA425353549 | POMC | c.324A>G (p.Ser108=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161561T>G | CA425353548 | POMC | c.324A>C (p.Ser108=) | |
2 | g.25161561T= | CA1239227792 | POMC | c.324A= (p.Ser108=) | |
2 | g.25161562G>A | CA43684786 | POMC | c.323C>T (p.Ser108Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161562G>C | CA346067303 | POMC | c.323C>G (p.Ser108Ter) | gnomAD v4 |
2 | g.25161562G= | CA1239227796 | POMC | c.323C= (p.Ser108=) | |
2 | g.25161562G>T | CA346067304 | POMC | c.323C>A (p.Ser108Ter) | dbSNP gnomAD v4 |
2 | g.25161563A>C | CA346067307 | POMC | c.322T>G (p.Ser108Ala) | |
2 | g.25161563A>G | CA346067306 | POMC | c.322T>C (p.Ser108Pro) | |
2 | g.25161563A>T | CA346067305 | POMC | c.322T>A (p.Ser108Thr) | |
2 | g.25161564G>A | CA425353555 | POMC | c.321C>T (p.Val107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161564G>C | CA425353557 | POMC | c.321C>G (p.Val107=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161564G= | CA1239227800 | POMC | c.321C= (p.Val107=) | |
2 | g.25161564G>T | CA425353560 | POMC | c.321C>A (p.Val107=) | |
2 | g.25161565A>C | CA346067308 | POMC | c.320T>G (p.Val107Gly) | |
2 | g.25161565A>G | CA346067309 | POMC | c.320T>C (p.Val107Ala) | gnomAD v4 |
2 | g.25161565A>T | CA346067310 | POMC | c.320T>A (p.Val107Asp) | |
2 | g.25161566C>A | CA346067311 | POMC | c.319G>T (p.Val107Phe) | gnomAD v4 |
2 | g.25161566C>G | CA346067312 | POMC | c.319G>C (p.Val107Leu) | |
2 | g.25161566C>T | CA346067313 | POMC | c.319G>A (p.Val107Ile) | gnomAD v4 |
2 | g.25161567G>A | CA43684789 | POMC | c.318C>T (p.Asp106=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161567G>C | CA346067314 | POMC | c.318C>G (p.Asp106Glu) | dbSNP gnomAD v4 |
2 | g.25161567G= | CA1239227804 | POMC | c.318C= (p.Asp106=) |