Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371594G>A | CA8980843 | MC4R | c.756C>T (p.Gly252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371594G>C | CA504305239 | MC4R | c.756C>G (p.Gly252=) | |
18 | g.60371594G= | CA2307359032 | MC4R | c.756C= (p.Gly252=) | |
18 | g.60371594G>T | CA504305240 | MC4R | c.756C>A (p.Gly252=) | |
18 | g.60371595C>A | CA402719151 | MC4R | c.755G>T (p.Gly252Val) | |
18 | g.60371595C= | CA2307359033 | MC4R | c.755G= (p.Gly252=) | |
18 | g.60371595C>G | CA402719150 | MC4R | c.755G>C (p.Gly252Ala) | |
18 | g.60371595C>T | CA8980844 | MC4R | c.755G>A (p.Gly252Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371596C>A | CA402719152 | MC4R | c.754G>T (p.Gly252Cys) | |
18 | g.60371596C= | CA2307359034 | MC4R | c.754G= (p.Gly252=) | |
18 | g.60371596C>G | CA402719153 | MC4R | c.754G>C (p.Gly252Arg) | |
18 | g.60371596C>T | CA8980845 | MC4R | c.754G>A (p.Gly252Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371597A>C | CA402719154 | MC4R | c.753T>G (p.Ile251Met) | |
18 | g.60371597A>G | CA504305245 | MC4R | c.753T>C (p.Ile251=) | |
18 | g.60371597A>T | CA504305246 | MC4R | c.753T>A (p.Ile251=) | |
18 | g.60371598A= | CA2307359036 | MC4R | c.752T= (p.Ile251=) | |
18 | g.60371598A>C | CA402719155 | MC4R | c.752T>G (p.Ile251Ser) | |
18 | g.60371598A>G | CA301530017 | MC4R | c.752T>C (p.Ile251Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371598A>T | CA402719156 | MC4R | c.752T>A (p.Ile251Asn) | |
18 | g.60371598_60371600delinsATC | CA2307359035 | MC4R | c.750_752delinsGAT (p.Leu250=) | |
18 | g.60371599T>A | CA402719157 | MC4R | c.751A>T (p.Ile251Phe) | |
18 | g.60371599T>C | CA402719158 | MC4R | c.751A>G (p.Ile251Val) | |
18 | g.60371599T>G | CA214823 | MC4R | c.751A>C (p.Ile251Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371599T= | CA2307359037 | MC4R | c.751A= (p.Ile251=) | |
18 | g.60371599_60371600del | CA8980846 | MC4R | c.750_751del (p.Ile251TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371600C>A | CA504305255 | MC4R | c.750G>T (p.Leu250=) | COSMIC |
18 | g.60371600C>G | CA504305256 | MC4R | c.750G>C (p.Leu250=) | |
18 | g.60371600C>T | CA504305257 | MC4R | c.750G>A (p.Leu250=) | COSMIC |
18 | g.60371601A= | CA2307359038 | MC4R | c.749T= (p.Leu250=) | |
18 | g.60371601A>C | CA402719160 | MC4R | c.749T>G (p.Leu250Arg) | |
18 | g.60371601A>G | CA402719159 | MC4R | c.749T>C (p.Leu250Pro) | |
18 | g.60371601A>T | CA8980847 | MC4R | c.749T>A (p.Leu250Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371602G>A | CA504305261 | MC4R | c.748C>T (p.Leu250=) | |
18 | g.60371602G>C | CA402719161 | MC4R | c.748C>G (p.Leu250Val) | |
18 | g.60371602G>T | CA402719162 | MC4R | c.748C>A (p.Leu250Met) | |
18 | g.60371603G>A | CA8980848 | MC4R | c.747C>T (p.Ile249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371603G>C | CA402719163 | MC4R | c.747C>G (p.Ile249Met) | |
18 | g.60371603G= | CA2307359039 | MC4R | c.747C= (p.Ile249=) | |
18 | g.60371603G>T | CA504305265 | MC4R | c.747C>A (p.Ile249=) | |
18 | g.60371604A>C | CA402719164 | MC4R | c.746T>G (p.Ile249Ser) | |
18 | g.60371604A>G | CA402719165 | MC4R | c.746T>C (p.Ile249Thr) | |
18 | g.60371604A>T | CA402719166 | MC4R | c.746T>A (p.Ile249Asn) | |
18 | g.60371605T>A | CA402719167 | MC4R | c.745A>T (p.Ile249Phe) | |
18 | g.60371605T>C | CA402719168 | MC4R | c.745A>G (p.Ile249Val) | dbSNP |
18 | g.60371605T>G | CA402719169 | MC4R | c.745A>C (p.Ile249Leu) | |
18 | g.60371605T= | CA2307359040 | MC4R | c.745A= (p.Ile249=) | |
18 | g.60371606G>A | CA504305274 | MC4R | c.744C>T (p.Thr248=) | dbSNP |
18 | g.60371606G>C | CA504305276 | MC4R | c.744C>G (p.Thr248=) | |
18 | g.60371606G= | CA2307359041 | MC4R | c.744C= (p.Thr248=) | |
18 | g.60371606G>T | CA8980849 | MC4R | c.744C>A (p.Thr248=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |