Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161359A>C | CA346066820 | POMC | c.526T>G (p.Phe176Val) | |
2 | g.25161359A>G | CA346066816 | POMC | c.526T>C (p.Phe176Leu) | |
2 | g.25161359A>T | CA346066817 | POMC | c.526T>A (p.Phe176Ile) | |
2 | g.25161360C>A | CA346066822 | POMC | c.525G>T (p.Glu175Asp) | |
2 | g.25161360C>G | CA346066824 | POMC | c.525G>C (p.Glu175Asp) | |
2 | g.25161360C>T | CA425352924 | POMC | c.525G>A (p.Glu175=) | |
2 | g.25161361T>A | CA346066826 | POMC | c.524A>T (p.Glu175Val) | |
2 | g.25161361T>C | CA346066827 | POMC | c.524A>G (p.Glu175Gly) | |
2 | g.25161361T>G | CA346066829 | POMC | c.524A>C (p.Glu175Ala) | |
2 | g.25161362C>A | CA346066832 | POMC | c.523G>T (p.Glu175Ter) | |
2 | g.25161362C= | CA1239227393 | POMC | c.523G= (p.Glu175=) | |
2 | g.25161362C>G | CA1555283 | POMC | c.523G>C (p.Glu175Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161362C>T | CA346066835 | POMC | c.523G>A (p.Glu175Lys) | |
2 | g.25161363C>A | CA425352927 | POMC | c.522G>T (p.Leu174=) | |
2 | g.25161363C= | CA1239227398 | POMC | c.522G= (p.Leu174=) | |
2 | g.25161363C>G | CA425352929 | POMC | c.522G>C (p.Leu174=) | |
2 | g.25161363C>T | CA425352931 | POMC | c.522G>A (p.Leu174=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161364A= | CA1239227402 | POMC | c.521T= (p.Leu174=) | |
2 | g.25161364A>C | CA346066837 | POMC | c.521T>G (p.Leu174Arg) | |
2 | g.25161364A>G | CA346066839 | POMC | c.521T>C (p.Leu174Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161364A>T | CA346066841 | POMC | c.521T>A (p.Leu174Gln) | gnomAD v4 |
2 | g.25161365G>A | CA425352937 | POMC | c.520C>T (p.Leu174=) | gnomAD v4 |
2 | g.25161365G>C | CA346066843 | POMC | c.520C>G (p.Leu174Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161365G= | CA1239227404 | POMC | c.520C= (p.Leu174=) | |
2 | g.25161365G>T | CA346066844 | POMC | c.520C>A (p.Leu174Met) | gnomAD v4 |
2 | g.25161369del | CA2749203939 | POMC | c.520del (p.Leu174TrpfsTer7) | |
2 | g.25161366G>A | CA425352938 | POMC | c.519C>T (p.Pro173=) | |
2 | g.25161366G>C | CA425352939 | POMC | c.519C>G (p.Pro173=) | gnomAD v4 |
2 | g.25161366G>T | CA425352940 | POMC | c.519C>A (p.Pro173=) | |
2 | g.25161367G>A | CA43684569 | POMC | c.518C>T (p.Pro173Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.25161367G>C | CA346066849 | POMC | c.518C>G (p.Pro173Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161367G= | CA1239227406 | POMC | c.518C= (p.Pro173=) | |
2 | g.25161367G>T | CA346066846 | POMC | c.518C>A (p.Pro173His) | |
2 | g.25161368G>A | CA346066855 | POMC | c.517C>T (p.Pro173Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25161368G>C | CA346066851 | POMC | c.517C>G (p.Pro173Ala) | |
2 | g.25161368G= | CA1239227410 | POMC | c.517C= (p.Pro173=) | |
2 | g.25161368G>T | CA346066853 | POMC | c.517C>A (p.Pro173Thr) | |
2 | g.25161369G>A | CA1555284 | POMC | c.516C>T (p.Phe172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161369G>C | CA346066859 | POMC | c.516C>G (p.Phe172Leu) | |
2 | g.25161369G= | CA1239227415 | POMC | c.516C= (p.Phe172=) | |
2 | g.25161369G>T | CA1555285 | POMC | c.516C>A (p.Phe172Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25161370A>C | CA346066861 | POMC | c.515T>G (p.Phe172Cys) | |
2 | g.25161370A>G | CA346066862 | POMC | c.515T>C (p.Phe172Ser) | gnomAD v4 |
2 | g.25161370A>T | CA346066863 | POMC | c.515T>A (p.Phe172Tyr) | |
2 | g.25161371A>C | CA346066864 | POMC | c.514T>G (p.Phe172Val) | |
2 | g.25161371A>G | CA346066865 | POMC | c.514T>C (p.Phe172Leu) | |
2 | g.25161371A>T | CA346066866 | POMC | c.514T>A (p.Phe172Ile) | |
2 | g.25161372G>A | CA425352958 | POMC | c.513C>T (p.Ala171=) | gnomAD v4 |
2 | g.25161372G>C | CA425352959 | POMC | c.513C>G (p.Ala171=) | |
2 | g.25161372G>T | CA425352954 | POMC | c.513C>A (p.Ala171=) |