Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372012T>A | CA402720029 | MC4R | c.338A>T (p.Asp113Val) | |
18 | g.60372012T>C | CA402720030 | MC4R | c.338A>G (p.Asp113Gly) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60372012T>G | CA402720031 | MC4R | c.338A>C (p.Asp113Ala) | |
18 | g.60372012T= | CA2307359242 | MC4R | c.338A= (p.Asp113=) | |
18 | g.60372013C>A | CA402720032 | MC4R | c.337G>T (p.Asp113Tyr) | |
18 | g.60372013C= | CA2307359243 | MC4R | c.337G= (p.Asp113=) | |
18 | g.60372013C>G | CA402720033 | MC4R | c.337G>C (p.Asp113His) | |
18 | g.60372013C>T | CA402720034 | MC4R | c.337G>A (p.Asp113Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.60372014C>A | CA504305711 | MC4R | c.336G>T (p.Thr112=) | dbSNP |
18 | g.60372014C= | CA2307359244 | MC4R | c.336G= (p.Thr112=) | |
18 | g.60372014C>G | CA504305710 | MC4R | c.336G>C (p.Thr112=) | |
18 | g.60372014C>T | CA8980938 | MC4R | c.336G>A (p.Thr112=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60372015G>A | CA8980939 | MC4R | c.335C>T (p.Thr112Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60372015G>C | CA402720035 | MC4R | c.335C>G (p.Thr112Arg) | dbSNP gnomAD v4 |
18 | g.60372015G= | CA2307359245 | MC4R | c.335C= (p.Thr112=) | |
18 | g.60372015G>T | CA402720036 | MC4R | c.335C>A (p.Thr112Lys) | |
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 |