Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372102A>C | CA402720218 | MC4R | c.248T>G (p.Ile83Ser) | |
18 | g.60372102A>G | CA402720219 | MC4R | c.248T>C (p.Ile83Thr) | |
18 | g.60372102A>T | CA402720220 | MC4R | c.248T>A (p.Ile83Asn) | |
18 | g.60372103T>A | CA402720221 | MC4R | c.247A>T (p.Ile83Phe) | |
18 | g.60372103T>C | CA402720222 | MC4R | c.247A>G (p.Ile83Val) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60372103T>G | CA402720223 | MC4R | c.247A>C (p.Ile83Leu) | |
18 | g.60372103T= | CA2307359292 | MC4R | c.247A= (p.Ile83=) | |
18 | g.60372104G>A | CA504305305 | MC4R | c.246C>T (p.Phe82=) | |
18 | g.60372104G>C | CA402720224 | MC4R | c.246C>G (p.Phe82Leu) | |
18 | g.60372104G>T | CA402720225 | MC4R | c.246C>A (p.Phe82Leu) | |
18 | g.60372105A>C | CA402720226 | MC4R | c.245T>G (p.Phe82Cys) | |
18 | g.60372105A>G | CA402720227 | MC4R | c.245T>C (p.Phe82Ser) | |
18 | g.60372105A>T | CA402720228 | MC4R | c.245T>A (p.Phe82Tyr) | |
18 | g.60372106A= | CA2307359293 | MC4R | c.244T= (p.Phe82=) | |
18 | g.60372106A>C | CA402720230 | MC4R | c.244T>G (p.Phe82Val) | |
18 | g.60372106A>G | CA8980955 | MC4R | c.244T>C (p.Phe82Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60372106A>T | CA402720229 | MC4R | c.244T>A (p.Phe82Ile) | |
18 | g.60372107A= | CA2307359294 | MC4R | c.243T= (p.Phe81=) | |
18 | g.60372107A>C | CA402720231 | MC4R | c.243T>G (p.Phe81Leu) | |
18 | g.60372107A>G | CA504305307 | MC4R | c.243T>C (p.Phe81=) | dbSNP |
18 | g.60372107A>T | CA402720232 | MC4R | c.243T>A (p.Phe81Leu) | |
18 | g.60372108A>C | CA402720233 | MC4R | c.242T>G (p.Phe81Cys) | |
18 | g.60372108A>G | CA402720234 | MC4R | c.242T>C (p.Phe81Ser) | |
18 | g.60372108A>T | CA402720235 | MC4R | c.242T>A (p.Phe81Tyr) | |
18 | g.60372109A>C | CA402720238 | MC4R | c.241T>G (p.Phe81Val) | gnomAD v4 |
18 | g.60372109A>G | CA402720236 | MC4R | c.241T>C (p.Phe81Leu) | |
18 | g.60372109A>T | CA402720237 | MC4R | c.241T>A (p.Phe81Ile) | |
18 | g.60372110G>A | CA504305309 | MC4R | c.240C>T (p.Tyr80=) | |
18 | g.60372110G>C | CA402720239 | MC4R | c.240C>G (p.Tyr80Ter) | |
18 | g.60372110G= | CA2307359295 | MC4R | c.240C= (p.Tyr80=) | |
18 | g.60372110G>T | CA301530051 | MC4R | c.240C>A (p.Tyr80Ter) | ClinVar dbSNP gnomAD v4 |
18 | g.60372111T>A | CA402720240 | MC4R | c.239A>T (p.Tyr80Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60372111T>C | CA402720241 | MC4R | c.239A>G (p.Tyr80Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60372111T>G | CA402720242 | MC4R | c.239A>C (p.Tyr80Ser) | |
18 | g.60372111T= | CA2307359296 | MC4R | c.239A= (p.Tyr80=) | |
18 | g.60372112A= | CA2307359297 | MC4R | c.238T= (p.Tyr80=) | |
18 | g.60372112A>C | CA402720243 | MC4R | c.238T>G (p.Tyr80Asp) | |
18 | g.60372112A>G | CA8980956 | MC4R | c.238T>C (p.Tyr80His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372112A>T | CA402720244 | MC4R | c.238T>A (p.Tyr80Asn) | dbSNP gnomAD v4 |
18 | g.60372113C>A | CA402720245 | MC4R | c.237G>T (p.Met79Ile) | |
18 | g.60372113C= | CA2307359298 | MC4R | c.237G= (p.Met79=) | |
18 | g.60372113C>G | CA402720246 | MC4R | c.237G>C (p.Met79Ile) | |
18 | g.60372113C>T | CA8980957 | MC4R | c.237G>A (p.Met79Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60372114A>C | CA402720247 | MC4R | c.236T>G (p.Met79Arg) | |
18 | g.60372114A>G | CA402720249 | MC4R | c.236T>C (p.Met79Thr) | |
18 | g.60372114A>T | CA402720248 | MC4R | c.236T>A (p.Met79Lys) | |
18 | g.60372115T>A | CA402720250 | MC4R | c.235A>T (p.Met79Leu) | |
18 | g.60372115T>C | CA402720251 | MC4R | c.235A>G (p.Met79Val) | ClinVar dbSNP gnomAD v4 |
18 | g.60372115T>G | CA402720252 | MC4R | c.235A>C (p.Met79Leu) | |
18 | g.60372116G>A | CA504305316 | MC4R | c.234C>T (p.Pro78=) |