Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372016T>A | CA402720037 | MC4R | c.334A>T (p.Thr112Ser) | |
18 | g.60372016T>C | CA402720038 | MC4R | c.334A>G (p.Thr112Ala) | gnomAD v4 |
18 | g.60372016T>G | CA402720039 | MC4R | c.334A>C (p.Thr112Pro) | |
18 | g.60372016dup | CA2307359246 | MC4R | c.334dup (p.Thr112AsnfsTer11) | dbSNP gnomAD v4 |
18 | g.60372017A>C | CA402720040 | MC4R | c.333T>G (p.Asp111Glu) | |
18 | g.60372017A>G | CA504305712 | MC4R | c.333T>C (p.Asp111=) | gnomAD v4 |
18 | g.60372017A>T | CA402720041 | MC4R | c.333T>A (p.Asp111Glu) | |
18 | g.60372018T>A | CA402720042 | MC4R | c.332A>T (p.Asp111Val) | gnomAD v4 |
18 | g.60372018T>C | CA402720043 | MC4R | c.332A>G (p.Asp111Gly) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60372018T>G | CA402720044 | MC4R | c.332A>C (p.Asp111Ala) | |
18 | g.60372018T= | CA2307359247 | MC4R | c.332A= (p.Asp111=) | |
18 | g.60372019C>A | CA402720045 | MC4R | c.331G>T (p.Asp111Tyr) | COSMIC |
18 | g.60372019C>G | CA402720046 | MC4R | c.331G>C (p.Asp111His) | |
18 | g.60372019C>T | CA402720047 | MC4R | c.331G>A (p.Asp111Asn) | |
18 | g.60372020T>A | CA504305714 | MC4R | c.330A>T (p.Thr110=) | |
18 | g.60372020T>C | CA504305715 | MC4R | c.330A>G (p.Thr110=) | |
18 | g.60372020T>G | CA504305716 | MC4R | c.330A>C (p.Thr110=) | |
18 | g.60372021G>A | CA402720049 | MC4R | c.329C>T (p.Thr110Ile) | |
18 | g.60372021G>C | CA8980940 | MC4R | c.329C>G (p.Thr110Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372021G= | CA2307359248 | MC4R | c.329C= (p.Thr110=) | |
18 | g.60372021G>T | CA402720048 | MC4R | c.329C>A (p.Thr110Lys) | |
18 | g.60372022T>A | CA402720050 | MC4R | c.328A>T (p.Thr110Ser) | |
18 | g.60372022T>C | CA402720051 | MC4R | c.328A>G (p.Thr110Ala) | |
18 | g.60372022T>G | CA402720052 | MC4R | c.328A>C (p.Thr110Pro) | |
18 | g.60372023A= | CA2307359249 | MC4R | c.327T= (p.Ser109=) | |
18 | g.60372023A>C | CA402720053 | MC4R | c.327T>G (p.Ser109Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60372023A>G | CA504305719 | MC4R | c.327T>C (p.Ser109=) | |
18 | g.60372023A>T | CA402720054 | MC4R | c.327T>A (p.Ser109Arg) | |
18 | g.60372024C>A | CA402720055 | MC4R | c.326G>T (p.Ser109Ile) | |
18 | g.60372024C= | CA2307359250 | MC4R | c.326G= (p.Ser109=) | |
18 | g.60372024C>G | CA402720057 | MC4R | c.326G>C (p.Ser109Thr) | |
18 | g.60372024C>T | CA402720056 | MC4R | c.326G>A (p.Ser109Asn) | dbSNP gnomAD v4 |
18 | g.60372025T>A | CA402720058 | MC4R | c.325A>T (p.Ser109Cys) | |
18 | g.60372025T>C | CA402720059 | MC4R | c.325A>G (p.Ser109Gly) | dbSNP gnomAD v4 |
18 | g.60372025T>G | CA402720060 | MC4R | c.325A>C (p.Ser109Arg) | |
18 | g.60372026G>A | CA504305721 | MC4R | c.324C>T (p.Asn108=) | |
18 | g.60372026G>C | CA402720061 | MC4R | c.324C>G (p.Asn108Lys) | |
18 | g.60372026G>T | CA402720062 | MC4R | c.324C>A (p.Asn108Lys) | |
18 | g.60372027T>A | CA402720063 | MC4R | c.323A>T (p.Asn108Ile) | |
18 | g.60372027T>C | CA402720064 | MC4R | c.323A>G (p.Asn108Ser) | |
18 | g.60372027T>G | CA402720065 | MC4R | c.323A>C (p.Asn108Thr) | |
18 | g.60372028T>A | CA402720066 | MC4R | c.322A>T (p.Asn108Tyr) | |
18 | g.60372028T>C | CA402720067 | MC4R | c.322A>G (p.Asn108Asp) | |
18 | g.60372028T>G | CA402720068 | MC4R | c.322A>C (p.Asn108His) | |
18 | g.60372029T>A | CA402720070 | MC4R | c.321A>T (p.Leu107Phe) | |
18 | g.60372029T>C | CA504305722 | MC4R | c.321A>G (p.Leu107=) | |
18 | g.60372029T>G | CA402720069 | MC4R | c.321A>C (p.Leu107Phe) | |
18 | g.60372030A>C | CA402720071 | MC4R | c.320T>G (p.Leu107Ter) | |
18 | g.60372030A>G | CA402720073 | MC4R | c.320T>C (p.Leu107Ser) | |
18 | g.60372030A>T | CA402720072 | MC4R | c.320T>A (p.Leu107Ter) |