Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885009A= | CA2285919377 | MC2R | c.510T= (p.His170=) | |
18 | g.13885009A>C | CA401995109 | MC2R | c.510T>G (p.His170Gln) | |
18 | g.13885009A>G | CA503248593 | MC2R | c.510T>C (p.His170=) | |
18 | g.13885009A>T | CA401995110 | MC2R | c.510T>A (p.His170Gln) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885010T>A | CA401995111 | MC2R | c.509A>T (p.His170Leu) | gnomAD v4 |
18 | g.13885010T>C | CA296828753 | MC2R | c.509A>G (p.His170Arg) | dbSNP gnomAD v4 |
18 | g.13885010T>G | CA401995112 | MC2R | c.509A>C (p.His170Pro) | |
18 | g.13885010T= | CA2285919378 | MC2R | c.509A= (p.His170=) | |
18 | g.13885011G>A | CA401995113 | MC2R | c.508C>T (p.His170Tyr) | gnomAD v4 |
18 | g.13885011G>C | CA401995114 | MC2R | c.508C>G (p.His170Asp) | |
18 | g.13885011G>T | CA401995115 | MC2R | c.508C>A (p.His170Asn) | gnomAD v4 |
18 | g.13885012G>A | CA8902458 | MC2R | c.507C>T (p.Ser169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885012G>C | CA503248599 | MC2R | c.507C>G (p.Ser169=) | gnomAD v4 |
18 | g.13885012G= | CA2285919379 | MC2R | c.507C= (p.Ser169=) | |
18 | g.13885012G>T | CA296828756 | MC2R | c.507C>A (p.Ser169=) | dbSNP |
18 | g.13885013G>A | CA401995118 | MC2R | c.506C>T (p.Ser169Phe) | gnomAD v4 |
18 | g.13885013G>C | CA401995116 | MC2R | c.506C>G (p.Ser169Cys) | |
18 | g.13885013G>T | CA401995117 | MC2R | c.506C>A (p.Ser169Tyr) | |
18 | g.13885014A>C | CA401995119 | MC2R | c.505T>G (p.Ser169Ala) | |
18 | g.13885014A>G | CA401995120 | MC2R | c.505T>C (p.Ser169Pro) | |
18 | g.13885014A>T | CA401995121 | MC2R | c.505T>A (p.Ser169Thr) | |
18 | g.13885017_13885019del | CA2641148014 | MC2R | c.503_505del (p.Phe168del) | gnomAD v4 |
18 | g.13885015G>A | CA503248135 | MC2R | c.504C>T (p.Phe168=) | gnomAD v4 |
18 | g.13885015G>C | CA401995122 | MC2R | c.504C>G (p.Phe168Leu) | |
18 | g.13885015G>T | CA401995123 | MC2R | c.504C>A (p.Phe168Leu) | |
18 | g.13885016A>C | CA401995124 | MC2R | c.503T>G (p.Phe168Cys) | |
18 | g.13885016A>G | CA401995126 | MC2R | c.503T>C (p.Phe168Ser) | |
18 | g.13885016A>T | CA401995125 | MC2R | c.503T>A (p.Phe168Tyr) | |
18 | g.13885017A>C | CA401995127 | MC2R | c.502T>G (p.Phe168Val) | |
18 | g.13885017A>G | CA401995128 | MC2R | c.502T>C (p.Phe168Leu) | |
18 | g.13885017A>T | CA401995129 | MC2R | c.502T>A (p.Phe168Ile) | |
18 | g.13885018G>A | CA503248141 | MC2R | c.501C>T (p.Ile167=) | |
18 | g.13885018G>C | CA401995130 | MC2R | c.501C>G (p.Ile167Met) | |
18 | g.13885018G>T | CA503248143 | MC2R | c.501C>A (p.Ile167=) | |
18 | g.13885019A= | CA2285919380 | MC2R | c.500T= (p.Ile167=) | |
18 | g.13885019A>C | CA401995132 | MC2R | c.500T>G (p.Ile167Ser) | |
18 | g.13885019A>G | CA401995131 | MC2R | c.500T>C (p.Ile167Thr) | |
18 | g.13885019A>T | CA8902459 | MC2R | c.500T>A (p.Ile167Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885020T>A | CA401995133 | MC2R | c.499A>T (p.Ile167Phe) | |
18 | g.13885020T>C | CA401995134 | MC2R | c.499A>G (p.Ile167Val) | gnomAD v4 |
18 | g.13885020T>G | CA401995135 | MC2R | c.499A>C (p.Ile167Leu) | |
18 | g.13885021C>A | CA503248150 | MC2R | c.498G>T (p.Val166=) | dbSNP |
18 | g.13885021C= | CA2285919381 | MC2R | c.498G= (p.Val166=) | |
18 | g.13885021C>G | CA503248154 | MC2R | c.498G>C (p.Val166=) | |
18 | g.13885021C>T | CA503248157 | MC2R | c.498G>A (p.Val166=) | gnomAD v4 |
18 | g.13885022A>C | CA401995136 | MC2R | c.497T>G (p.Val166Gly) | |
18 | g.13885022A>G | CA401995137 | MC2R | c.497T>C (p.Val166Ala) | |
18 | g.13885022A>T | CA401995138 | MC2R | c.497T>A (p.Val166Glu) | |
18 | g.13885023C>A | CA296828760 | MC2R | c.496G>T (p.Val166Leu) | dbSNP |
18 | g.13885023C= | CA2285919382 | MC2R | c.496G= (p.Val166=) |