Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371970G>A | CA210725 | MC4R | c.380C>T (p.Ser127Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371970G>C | CA402719933 | MC4R | c.380C>G (p.Ser127Trp) | dbSNP |
18 | g.60371970G= | CA2307359224 | MC4R | c.380C= (p.Ser127=) | |
18 | g.60371970G>T | CA402719934 | MC4R | c.380C>A (p.Ser127Ter) | |
18 | g.60371971A= | CA2307359225 | MC4R | c.379T= (p.Ser127=) | |
18 | g.60371971A>C | CA402719936 | MC4R | c.379T>G (p.Ser127Ala) | |
18 | g.60371971A>G | CA402719937 | MC4R | c.379T>C (p.Ser127Pro) | dbSNP |
18 | g.60371971A>T | CA402719935 | MC4R | c.379T>A (p.Ser127Thr) | |
18 | g.60371972G>A | CA301530045 | MC4R | c.378C>T (p.Asp126=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371972G>C | CA402719938 | MC4R | c.378C>G (p.Asp126Glu) | |
18 | g.60371972G= | CA2307359226 | MC4R | c.378C= (p.Asp126=) | |
18 | g.60371972G>T | CA402719939 | MC4R | c.378C>A (p.Asp126Glu) | |
18 | g.60371973T>A | CA402719940 | MC4R | c.377A>T (p.Asp126Val) | |
18 | g.60371973T>C | CA402719941 | MC4R | c.377A>G (p.Asp126Gly) | |
18 | g.60371973T>G | CA402719942 | MC4R | c.377A>C (p.Asp126Ala) | |
18 | g.60371974C>A | CA8980933 | MC4R | c.376G>T (p.Asp126Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371974C= | CA2307359227 | MC4R | c.376G= (p.Asp126=) | |
18 | g.60371974C>G | CA402719944 | MC4R | c.376G>C (p.Asp126His) | |
18 | g.60371974C>T | CA402719943 | MC4R | c.376G>A (p.Asp126Asn) | |
18 | g.60371975A>C | CA402719945 | MC4R | c.375T>G (p.Ile125Met) | |
18 | g.60371975A>G | CA504305671 | MC4R | c.375T>C (p.Ile125=) | gnomAD v4 |
18 | g.60371975A>T | CA504305673 | MC4R | c.375T>A (p.Ile125=) | gnomAD v4 |
18 | g.60371975_60371976delinsTT | CA2580095967 | MC4R | c.374_375delinsAA (p.Ile125Lys) | ClinVar |
18 | g.60371976A>C | CA402719946 | MC4R | c.374T>G (p.Ile125Ser) | |
18 | g.60371976A>G | CA402719947 | MC4R | c.374T>C (p.Ile125Thr) | |
18 | g.60371976A>T | CA402719948 | MC4R | c.374T>A (p.Ile125Asn) | gnomAD v4 |
18 | g.60371977T>A | CA402719949 | MC4R | c.373A>T (p.Ile125Phe) | |
18 | g.60371977T>C | CA402719951 | MC4R | c.373A>G (p.Ile125Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371977T>G | CA402719950 | MC4R | c.373A>C (p.Ile125Leu) | gnomAD v4 |
18 | g.60371977T= | CA2307359228 | MC4R | c.373A= (p.Ile125=) | |
18 | g.60371978G>A | CA504305677 | MC4R | c.372C>T (p.Val124=) | |
18 | g.60371978G>C | CA504305678 | MC4R | c.372C>G (p.Val124=) | |
18 | g.60371978G= | CA2307359229 | MC4R | c.372C= (p.Val124=) | |
18 | g.60371978G>T | CA504305679 | MC4R | c.372C>A (p.Val124=) | dbSNP gnomAD v4 |
18 | g.60371979A>C | CA402719952 | MC4R | c.371T>G (p.Val124Gly) | |
18 | g.60371979A>G | CA402719954 | MC4R | c.371T>C (p.Val124Ala) | |
18 | g.60371979A>T | CA402719953 | MC4R | c.371T>A (p.Val124Asp) | |
18 | g.60371980C>A | CA402719955 | MC4R | c.370G>T (p.Val124Phe) | |
18 | g.60371980C= | CA2307359230 | MC4R | c.370G= (p.Val124=) | |
18 | g.60371980C>G | CA402719956 | MC4R | c.370G>C (p.Val124Leu) | |
18 | g.60371980C>T | CA8980934 | MC4R | c.370G>A (p.Val124Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371981A>C | CA402719957 | MC4R | c.369T>G (p.Asn123Lys) | |
18 | g.60371981A>G | CA504305683 | MC4R | c.369T>C (p.Asn123=) | |
18 | g.60371981A>T | CA402719958 | MC4R | c.369T>A (p.Asn123Lys) | gnomAD v4 |
18 | g.60371982T>A | CA402719959 | MC4R | c.368A>T (p.Asn123Ile) | |
18 | g.60371982T>C | CA8980935 | MC4R | c.368A>G (p.Asn123Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371982T>G | CA402719960 | MC4R | c.368A>C (p.Asn123Thr) | |
18 | g.60371982T= | CA2307359231 | MC4R | c.368A= (p.Asn123=) | |
18 | g.60371983T>A | CA402719961 | MC4R | c.367A>T (p.Asn123Tyr) | |
18 | g.60371983T>C | CA402719962 | MC4R | c.367A>G (p.Asn123Asp) |