Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161472G>A | CA346067115 | POMC | c.413C>T (p.Ser138Phe) | dbSNP gnomAD v2 COSMIC |
2 | g.25161472G>C | CA346067116 | POMC | c.413C>G (p.Ser138Cys) | gnomAD v4 |
2 | g.25161472G= | CA1239227545 | POMC | c.413C= (p.Ser138=) | |
2 | g.25161472G>T | CA346067117 | POMC | c.413C>A (p.Ser138Tyr) | |
2 | g.25161473A= | CA1239227546 | POMC | c.412T= (p.Ser138=) | |
2 | g.25161473A>C | CA346067118 | POMC | c.412T>G (p.Ser138Ala) | |
2 | g.25161473A>G | CA43684682 | POMC | c.412T>C (p.Ser138Pro) | dbSNP |
2 | g.25161473A>T | CA346067119 | POMC | c.412T>A (p.Ser138Thr) | |
2 | g.25161474G>A | CA425353253 | POMC | c.411C>T (p.Arg137=) | |
2 | g.25161474G>C | CA1555303 | POMC | c.411C>G (p.Arg137=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161474G= | CA1239227548 | POMC | c.411C= (p.Arg137=) | |
2 | g.25161474G>T | CA425353255 | POMC | c.411C>A (p.Arg137=) | |
2 | g.25161475C>A | CA346067120 | POMC | c.410G>T (p.Arg137Leu) | gnomAD v4 |
2 | g.25161475C= | CA1239227555 | POMC | c.410G= (p.Arg137=) | |
2 | g.25161475C>G | CA1555304 | POMC | c.410G>C (p.Arg137Pro) | dbSNP ExAC gnomAD v2 |
2 | g.25161475C>T | CA346067121 | POMC | c.410G>A (p.Arg137His) | |
2 | g.25161476G>A | CA346067122 | POMC | c.409C>T (p.Arg137Cys) | gnomAD v4 COSMIC |
2 | g.25161476G>C | CA346067124 | POMC | c.409C>G (p.Arg137Gly) | |
2 | g.25161476G>T | CA346067123 | POMC | c.409C>A (p.Arg137Ser) | gnomAD v4 |
2 | g.25161477C>A | CA346067125 | POMC | c.408G>T (p.Lys136Asn) | dbSNP |
2 | g.25161477C= | CA1239227560 | POMC | c.408G= (p.Lys136=) | |
2 | g.25161477C>G | CA346067126 | POMC | c.408G>C (p.Lys136Asn) | |
2 | g.25161477C>T | CA425353375 | POMC | c.408G>A (p.Lys136=) | gnomAD v4 |
2 | g.25161478T>A | CA346067127 | POMC | c.407A>T (p.Lys136Met) | |
2 | g.25161478T>C | CA346067128 | POMC | c.407A>G (p.Lys136Arg) | gnomAD v4 |
2 | g.25161478T>G | CA346067129 | POMC | c.407A>C (p.Lys136Thr) | |
2 | g.25161479T>A | CA346067130 | POMC | c.406A>T (p.Lys136Ter) | |
2 | g.25161479T>C | CA346067131 | POMC | c.406A>G (p.Lys136Glu) | COSMIC |
2 | g.25161479T>G | CA346067132 | POMC | c.406A>C (p.Lys136Gln) | gnomAD v4 |
2 | g.25161480G>A | CA425353386 | POMC | c.405C>T (p.Gly135=) | gnomAD v4 COSMIC |
2 | g.25161480G>C | CA425353387 | POMC | c.405C>G (p.Gly135=) | dbSNP |
2 | g.25161480G= | CA1239227563 | POMC | c.405C= (p.Gly135=) | |
2 | g.25161480G>T | CA425353388 | POMC | c.405C>A (p.Gly135=) | gnomAD v4 |
2 | g.25161481C>A | CA346067133 | POMC | c.404G>T (p.Gly135Val) | |
2 | g.25161481C= | CA1239227568 | POMC | c.404G= (p.Gly135=) | |
2 | g.25161481C>G | CA346067134 | POMC | c.404G>C (p.Gly135Ala) | |
2 | g.25161481C>T | CA43684695 | POMC | c.404G>A (p.Gly135Asp) | dbSNP |
2 | g.25161482_25161483dup | CA256771 | POMC | c.403_404dup (p.Lys136AlafsTer23) | ClinVar dbSNP |
2 | g.25161482C>A | CA346067139 | POMC | c.403G>T (p.Gly135Cys) | |
2 | g.25161482C= | CA1239227569 | POMC | c.403G= (p.Gly135=) | |
2 | g.25161482C>G | CA346067138 | POMC | c.403G>C (p.Gly135Arg) | |
2 | g.25161482C>T | CA346067137 | POMC | c.403G>A (p.Gly135Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161483C>A | CA346067140 | POMC | c.402G>T (p.Glu134Asp) | |
2 | g.25161483C>G | CA346067141 | POMC | c.402G>C (p.Glu134Asp) | |
2 | g.25161483C>T | CA425353392 | POMC | c.402G>A (p.Glu134=) | |
2 | g.25161484T>A | CA346067142 | POMC | c.401A>T (p.Glu134Val) | |
2 | g.25161484T>C | CA346067143 | POMC | c.401A>G (p.Glu134Gly) | |
2 | g.25161484T>G | CA346067144 | POMC | c.401A>C (p.Glu134Ala) | |
2 | g.25161485C>A | CA346067147 | POMC | c.400G>T (p.Glu134Ter) | |
2 | g.25161485C= | CA1239227571 | POMC | c.400G= (p.Glu134=) |