Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161381C>A | CA425352987 | POMC | c.504G>T (p.Ser168=) | |
2 | g.25161381C= | CA1239227443 | POMC | c.504G= (p.Ser168=) | |
2 | g.25161381C>G | CA43684604 | POMC | c.504G>C (p.Ser168=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161381C>T | CA425352988 | POMC | c.504G>A (p.Ser168=) | |
2 | g.25161382G>A | CA1555288 | POMC | c.503C>T (p.Ser168Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161382G>C | CA346066914 | POMC | c.503C>G (p.Ser168Trp) | |
2 | g.25161382G= | CA1239227445 | POMC | c.503C= (p.Ser168=) | |
2 | g.25161382G>T | CA346066911 | POMC | c.503C>A (p.Ser168Ter) | gnomAD v4 |
2 | g.25161383A= | CA1239227451 | POMC | c.502T= (p.Ser168=) | |
2 | g.25161383A>C | CA346066917 | POMC | c.502T>G (p.Ser168Ala) | |
2 | g.25161383A>G | CA346066918 | POMC | c.502T>C (p.Ser168Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161383A>T | CA346066919 | POMC | c.502T>A (p.Ser168Thr) | |
2 | g.25161384C>A | CA346066920 | POMC | c.501G>T (p.Glu167Asp) | |
2 | g.25161384C= | CA1239227456 | POMC | c.501G= (p.Glu167=) | |
2 | g.25161384C>G | CA346066921 | POMC | c.501G>C (p.Glu167Asp) | |
2 | g.25161384C>T | CA425352996 | POMC | c.501G>A (p.Glu167=) | dbSNP gnomAD v2 |
2 | g.25161385T>A | CA346066924 | POMC | c.500A>T (p.Glu167Val) | |
2 | g.25161385T>C | CA346066923 | POMC | c.500A>G (p.Glu167Gly) | |
2 | g.25161385T>G | CA346066922 | POMC | c.500A>C (p.Glu167Ala) | |
2 | g.25161386C>A | CA346066925 | POMC | c.499G>T (p.Glu167Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161386C= | CA1239227461 | POMC | c.499G= (p.Glu167=) | |
2 | g.25161386C>G | CA346066926 | POMC | c.499G>C (p.Glu167Gln) | dbSNP |
2 | g.25161386C>T | CA346066927 | POMC | c.499G>A (p.Glu167Lys) | |
2 | g.25161387G>A | CA1555289 | POMC | c.498C>T (p.Asp166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161387G>C | CA346066928 | POMC | c.498C>G (p.Asp166Glu) | dbSNP |
2 | g.25161387G= | CA1239227467 | POMC | c.498C= (p.Asp166=) | |
2 | g.25161387G>T | CA346066929 | POMC | c.498C>A (p.Asp166Glu) | |
2 | g.25161388T>A | CA346066930 | POMC | c.497A>T (p.Asp166Val) | |
2 | g.25161388T>C | CA346066931 | POMC | c.497A>G (p.Asp166Gly) | |
2 | g.25161388T>G | CA1555290 | POMC | c.497A>C (p.Asp166Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161388T= | CA1239227474 | POMC | c.497A= (p.Asp166=) | |
2 | g.25161389C>A | CA346066932 | POMC | c.496G>T (p.Asp166Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161389C= | CA1239227477 | POMC | c.496G= (p.Asp166=) | |
2 | g.25161389C>G | CA346066933 | POMC | c.496G>C (p.Asp166His) | |
2 | g.25161389C>T | CA346066934 | POMC | c.496G>A (p.Asp166Asn) | gnomAD v4 |
2 | g.25161390C>A | CA346066935 | POMC | c.495G>T (p.Glu165Asp) | |
2 | g.25161390C>G | CA346066936 | POMC | c.495G>C (p.Glu165Asp) | |
2 | g.25161390C>T | CA425353009 | POMC | c.495G>A (p.Glu165=) | |
2 | g.25161391T>A | CA346066937 | POMC | c.494A>T (p.Glu165Val) | dbSNP |
2 | g.25161391T>C | CA346066938 | POMC | c.494A>G (p.Glu165Gly) | |
2 | g.25161391T>G | CA346066939 | POMC | c.494A>C (p.Glu165Ala) | |
2 | g.25161391T= | CA1239227481 | POMC | c.494A= (p.Glu165=) | |
2 | g.25161392C>A | CA346066940 | POMC | c.493G>T (p.Glu165Ter) | gnomAD v4 |
2 | g.25161392C= | CA1239227485 | POMC | c.493G= (p.Glu165=) | |
2 | g.25161392C>G | CA346066941 | POMC | c.493G>C (p.Glu165Gln) | |
2 | g.25161392C>T | CA346066942 | POMC | c.493G>A (p.Glu165Lys) | dbSNP |
2 | g.25161393G>A | CA43684610 | POMC | c.492C>T (p.Ala164=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.25161393G>C | CA425353017 | POMC | c.492C>G (p.Ala164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161393G= | CA1239227487 | POMC | c.492C= (p.Ala164=) | |
2 | g.25161393G>T | CA425353015 | POMC | c.492C>A (p.Ala164=) | gnomAD v4 |