Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885001G>A | CA401995089 | MC2R | c.518C>T (p.Pro173Leu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885001G>C | CA401995090 | MC2R | c.518C>G (p.Pro173Arg) | |
18 | g.13885001G= | CA2285919374 | MC2R | c.518C= (p.Pro173=) | |
18 | g.13885001G>T | CA401995091 | MC2R | c.518C>A (p.Pro173His) | |
18 | g.13885002G>A | CA401995092 | MC2R | c.517C>T (p.Pro173Ser) | |
18 | g.13885002G>C | CA401995093 | MC2R | c.517C>G (p.Pro173Ala) | gnomAD v4 |
18 | g.13885002G>T | CA401995094 | MC2R | c.517C>A (p.Pro173Thr) | |
18 | g.13885003C>A | CA503248579 | MC2R | c.516G>T (p.Val172=) | |
18 | g.13885003C>G | CA503248580 | MC2R | c.516G>C (p.Val172=) | |
18 | g.13885003C>T | CA503248582 | MC2R | c.516G>A (p.Val172=) | gnomAD v4 |
18 | g.13885004A>C | CA401995097 | MC2R | c.515T>G (p.Val172Gly) | |
18 | g.13885004A>G | CA401995095 | MC2R | c.515T>C (p.Val172Ala) | |
18 | g.13885004A>T | CA401995096 | MC2R | c.515T>A (p.Val172Glu) | |
18 | g.13885005C>A | CA401995098 | MC2R | c.514G>T (p.Val172Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885005C= | CA2285919375 | MC2R | c.514G= (p.Val172=) | |
18 | g.13885005C>G | CA401995099 | MC2R | c.514G>C (p.Val172Leu) | |
18 | g.13885005C>T | CA401995100 | MC2R | c.514G>A (p.Val172Met) | COSMIC |
18 | g.13885006A= | CA2285919376 | MC2R | c.513T= (p.His171=) | |
18 | g.13885006A>C | CA401995101 | MC2R | c.513T>G (p.His171Gln) | |
18 | g.13885006A>G | CA503248587 | MC2R | c.513T>C (p.His171=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885006A>T | CA401995102 | MC2R | c.513T>A (p.His171Gln) | |
18 | g.13885007T>A | CA401995103 | MC2R | c.512A>T (p.His171Leu) | |
18 | g.13885007T>C | CA401995105 | MC2R | c.512A>G (p.His171Arg) | gnomAD v4 |
18 | g.13885007T>G | CA401995104 | MC2R | c.512A>C (p.His171Pro) | |
18 | g.13885008G>A | CA401995106 | MC2R | c.511C>T (p.His171Tyr) | gnomAD v4 |
18 | g.13885008G>C | CA401995107 | MC2R | c.511C>G (p.His171Asp) | |
18 | g.13885008G>T | CA401995108 | MC2R | c.511C>A (p.His171Asn) | gnomAD v4 |
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 |