Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25161353T>A | CA346066782 | POMC | c.532A>T (p.Arg178Trp) | gnomAD v4 |
2 | g.25161353T>C | CA346066779 | POMC | c.532A>G (p.Arg178Gly) | |
2 | g.25161353T>G | CA425352901 | POMC | c.532A>C (p.Arg178=) | |
2 | g.25161354C>A | CA346066785 | POMC | c.531G>T (p.Lys177Asn) | |
2 | g.25161354C>G | CA346066787 | POMC | c.531G>C (p.Lys177Asn) | |
2 | g.25161354C>T | CA425352902 | POMC | c.531G>A (p.Lys177=) | gnomAD v4 |
2 | g.25161355T>A | CA346066791 | POMC | c.530A>T (p.Lys177Met) | |
2 | g.25161355T>C | CA1555282 | POMC | c.530A>G (p.Lys177Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25161355T>G | CA346066794 | POMC | c.530A>C (p.Lys177Thr) | |
2 | g.25161355T= | CA1239227390 | POMC | c.530A= (p.Lys177=) | |
2 | g.25161356T>A | CA346066797 | POMC | c.529A>T (p.Lys177Ter) | |
2 | g.25161356T>C | CA346066799 | POMC | c.529A>G (p.Lys177Glu) | |
2 | g.25161356T>G | CA346066802 | POMC | c.529A>C (p.Lys177Gln) | |
2 | g.25161357G>A | CA425352910 | POMC | c.528C>T (p.Phe176=) | |
2 | g.25161357G>C | CA346066804 | POMC | c.528C>G (p.Phe176Leu) | |
2 | g.25161357G>T | CA346066806 | POMC | c.528C>A (p.Phe176Leu) | gnomAD v4 |
2 | g.25161358A>C | CA346066809 | POMC | c.527T>G (p.Phe176Cys) | |
2 | g.25161358A>G | CA346066811 | POMC | c.527T>C (p.Phe176Ser) | |
2 | g.25161358A>T | CA346066813 | POMC | c.527T>A (p.Phe176Tyr) | |
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) | 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.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) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25161367G= | CA1239227406 | POMC | c.518C= (p.Pro173=) |