Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161460T>A | CA346067087 | POMC | c.425A>T (p.Glu142Val) | |
2 | g.25161460T>C | CA346067088 | POMC | c.425A>G (p.Glu142Gly) | |
2 | g.25161460T>G | CA346067089 | POMC | c.425A>C (p.Glu142Ala) | |
2 | g.25161461C>A | CA346067092 | POMC | c.424G>T (p.Glu142Ter) | gnomAD v4 |
2 | g.25161461C>G | CA346067091 | POMC | c.424G>C (p.Glu142Gln) | |
2 | g.25161461C>T | CA346067090 | POMC | c.424G>A (p.Glu142Lys) | |
2 | g.25161462C>A | CA346067093 | POMC | c.423G>T (p.Met141Ile) | |
2 | g.25161462C>G | CA346067094 | POMC | c.423G>C (p.Met141Ile) | |
2 | g.25161462C>T | CA346067095 | POMC | c.423G>A (p.Met141Ile) | |
2 | g.25161463A>C | CA346067096 | POMC | c.422T>G (p.Met141Arg) | gnomAD v4 |
2 | g.25161463A>G | CA346067097 | POMC | c.422T>C (p.Met141Thr) | gnomAD v4 |
2 | g.25161463A>T | CA346067098 | POMC | c.422T>A (p.Met141Lys) | |
2 | g.25161464T>A | CA346067099 | POMC | c.421A>T (p.Met141Leu) | COSMIC |
2 | g.25161464T>C | CA346067100 | POMC | c.421A>G (p.Met141Val) | gnomAD v4 |
2 | g.25161464T>G | CA346067101 | POMC | c.421A>C (p.Met141Leu) | gnomAD v4 |
2 | g.25161465G>A | CA425353236 | POMC | c.420C>T (p.Ser140=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161465G>C | CA425353237 | POMC | c.420C>G (p.Ser140=) | |
2 | g.25161465G= | CA1239227541 | POMC | c.420C= (p.Ser140=) | |
2 | g.25161465G>T | CA425353238 | POMC | c.420C>A (p.Ser140=) | gnomAD v4 |
2 | g.25161466G>A | CA43684680 | POMC | c.419C>T (p.Ser140Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161466G>C | CA346067102 | POMC | c.419C>G (p.Ser140Cys) | |
2 | g.25161466G= | CA1239227542 | POMC | c.419C= (p.Ser140=) | |
2 | g.25161466G>T | CA346067103 | POMC | c.419C>A (p.Ser140Tyr) | gnomAD v4 |
2 | g.25161467A>C | CA346067105 | POMC | c.418T>G (p.Ser140Ala) | |
2 | g.25161467A>G | CA346067106 | POMC | c.418T>C (p.Ser140Pro) | |
2 | g.25161467A>T | CA346067104 | POMC | c.418T>A (p.Ser140Thr) | |
2 | g.25161468G>A | CA425353241 | POMC | c.417C>T (p.Tyr139=) | |
2 | g.25161468G>C | CA346067107 | POMC | c.417C>G (p.Tyr139Ter) | |
2 | g.25161468G= | CA1239227543 | POMC | c.417C= (p.Tyr139=) | |
2 | g.25161468G>T | CA346067108 | POMC | c.417C>A (p.Tyr139Ter) | |
2 | g.25161469T>A | CA346067109 | POMC | c.416A>T (p.Tyr139Phe) | |
2 | g.25161469T>C | CA346067110 | POMC | c.416A>G (p.Tyr139Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.25161469T>G | CA346067111 | POMC | c.416A>C (p.Tyr139Ser) | |
2 | g.25161469T= | CA1239227544 | POMC | c.416A= (p.Tyr139=) | |
2 | g.25161469dup | CA915943713 | POMC | c.416dup (p.Tyr139Ter) | ClinVar dbSNP |
2 | g.25161470A>C | CA346067114 | POMC | c.415T>G (p.Tyr139Asp) | |
2 | g.25161470A>G | CA346067112 | POMC | c.415T>C (p.Tyr139His) | |
2 | g.25161470A>T | CA346067113 | POMC | c.415T>A (p.Tyr139Asn) | |
2 | g.25161471G>A | CA425353249 | POMC | c.414C>T (p.Ser138=) | |
2 | g.25161471G>C | CA425353250 | POMC | c.414C>G (p.Ser138=) | |
2 | g.25161471G>T | CA425353251 | POMC | c.414C>A (p.Ser138=) | gnomAD v4 |
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=) |