Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161541G>A | CA346067258 | POMC | c.344C>T (p.Pro115Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161541G>C | CA43684769 | POMC | c.344C>G (p.Pro115Arg) | dbSNP |
2 | g.25161541G= | CA1239227740 | POMC | c.344C= (p.Pro115=) | |
2 | g.25161541G>T | CA346067259 | POMC | c.344C>A (p.Pro115Gln) | gnomAD v4 |
2 | g.25161542G>A | CA346067260 | POMC | c.343C>T (p.Pro115Ser) | dbSNP |
2 | g.25161542G>C | CA346067261 | POMC | c.343C>G (p.Pro115Ala) | dbSNP |
2 | g.25161542G= | CA1239227743 | POMC | c.343C= (p.Pro115=) | |
2 | g.25161542G>T | CA346067262 | POMC | c.343C>A (p.Pro115Thr) | gnomAD v4 |
2 | g.25161543G>A | CA425353521 | POMC | c.342C>T (p.Gly114=) | dbSNP gnomAD v4 |
2 | g.25161543G>C | CA425353522 | POMC | c.342C>G (p.Gly114=) | |
2 | g.25161543G= | CA1239227747 | POMC | c.342C= (p.Gly114=) | |
2 | g.25161543G>T | CA425353523 | POMC | c.342C>A (p.Gly114=) | |
2 | g.25161544C>A | CA346067264 | POMC | c.341G>T (p.Gly114Val) | |
2 | g.25161544C>G | CA346067265 | POMC | c.341G>C (p.Gly114Ala) | |
2 | g.25161544C>T | CA346067263 | POMC | c.341G>A (p.Gly114Asp) | gnomAD v4 |
2 | g.25161545C>A | CA346067266 | POMC | c.340G>T (p.Gly114Cys) | |
2 | g.25161545C= | CA1239227751 | POMC | c.340G= (p.Gly114=) | |
2 | g.25161545C>G | CA346067267 | POMC | c.340G>C (p.Gly114Arg) | |
2 | g.25161545C>T | CA346067268 | POMC | c.340G>A (p.Gly114Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161546G>A | CA425353527 | POMC | c.339C>T (p.Cys113=) | dbSNP gnomAD v4 COSMIC |
2 | g.25161546G>C | CA346067269 | POMC | c.339C>G (p.Cys113Trp) | |
2 | g.25161546G= | CA1239227755 | POMC | c.339C= (p.Cys113=) | |
2 | g.25161546G>T | CA346067270 | POMC | c.339C>A (p.Cys113Ter) | gnomAD v4 |
2 | g.25161547C>A | CA346067271 | POMC | c.338G>T (p.Cys113Phe) | |
2 | g.25161547C>G | CA346067272 | POMC | c.338G>C (p.Cys113Ser) | |
2 | g.25161547C>T | CA346067273 | POMC | c.338G>A (p.Cys113Tyr) | gnomAD v4 |
2 | g.25161548A= | CA1239227762 | POMC | c.337T= (p.Cys113=) | |
2 | g.25161548A>C | CA346067274 | POMC | c.337T>G (p.Cys113Gly) | |
2 | g.25161548A>G | CA346067275 | POMC | c.337T>C (p.Cys113Arg) | dbSNP gnomAD v4 |
2 | g.25161548A>T | CA346067276 | POMC | c.337T>A (p.Cys113Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161549G>A | CA425353531 | POMC | c.336C>T (p.Asp112=) | gnomAD v4 |
2 | g.25161549G>C | CA346067277 | POMC | c.336C>G (p.Asp112Glu) | |
2 | g.25161549G>T | CA346067278 | POMC | c.336C>A (p.Asp112Glu) | |
2 | g.25161550T>A | CA346067281 | POMC | c.335A>T (p.Asp112Val) | |
2 | g.25161550T>C | CA346067280 | POMC | c.335A>G (p.Asp112Gly) | gnomAD v4 |
2 | g.25161550T>G | CA346067279 | POMC | c.335A>C (p.Asp112Ala) | |
2 | g.25161551C>A | CA1555317 | POMC | c.334G>T (p.Asp112Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161551C= | CA1239227764 | POMC | c.334G= (p.Asp112=) | |
2 | g.25161551C>G | CA346067282 | POMC | c.334G>C (p.Asp112His) | gnomAD v4 |
2 | g.25161551C>T | CA346067283 | POMC | c.334G>A (p.Asp112Asn) | dbSNP gnomAD v2 |
2 | g.25161552T>A | CA346067284 | POMC | c.333A>T (p.Glu111Asp) | |
2 | g.25161552T>C | CA1555318 | POMC | c.333A>G (p.Glu111=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161552T>G | CA346067285 | POMC | c.333A>C (p.Glu111Asp) | |
2 | g.25161552T= | CA1239227771 | POMC | c.333A= (p.Glu111=) | |
2 | g.25161553T>A | CA346067286 | POMC | c.332A>T (p.Glu111Val) | |
2 | g.25161553T>C | CA346067287 | POMC | c.332A>G (p.Glu111Gly) | gnomAD v4 |
2 | g.25161553T>G | CA346067288 | POMC | c.332A>C (p.Glu111Ala) | |
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 |