Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372002_60372004delinsACT | CA2307359238 | MC4R | c.346_348delinsAGT (p.Ser116=) | |
18 | g.60372003C>A | CA402720009 | MC4R | c.347G>T (p.Ser116Ile) | |
18 | g.60372003C>G | CA402720008 | MC4R | c.347G>C (p.Ser116Thr) | |
18 | g.60372003C>T | CA402720007 | MC4R | c.347G>A (p.Ser116Asn) | |
18 | g.60372005_60372006del | CA781032640 | MC4R | c.346_347del (p.Ser116PhefsTer6) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60372004T>A | CA402720010 | MC4R | c.346A>T (p.Ser116Cys) | |
18 | g.60372004T>C | CA402720012 | MC4R | c.346A>G (p.Ser116Gly) | |
18 | g.60372004T>G | CA402720011 | MC4R | c.346A>C (p.Ser116Arg) | |
18 | g.60372005C>A | CA402720013 | MC4R | c.345G>T (p.Gln115His) | |
18 | g.60372005C= | CA2307359240 | MC4R | c.345G= (p.Gln115=) | |
18 | g.60372005C>G | CA402720014 | MC4R | c.345G>C (p.Gln115His) | dbSNP gnomAD v4 |
18 | g.60372005C>T | CA504305702 | MC4R | c.345G>A (p.Gln115=) | gnomAD v4 |
18 | g.60372005_60372007delinsCTG | CA2307359239 | MC4R | c.343_345delinsCAG (p.Gln115=) | |
18 | g.60372006T>A | CA402720015 | MC4R | c.344A>T (p.Gln115Leu) | |
18 | g.60372006T>C | CA402720016 | MC4R | c.344A>G (p.Gln115Arg) | gnomAD v4 |
18 | g.60372006T>G | CA402720017 | MC4R | c.344A>C (p.Gln115Pro) | |
18 | g.60372008_60372009del | CA630399121 | MC4R | c.343_344del (p.Gln115GlufsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.60372007G>A | CA402720018 | MC4R | c.343C>T (p.Gln115Ter) | |
18 | g.60372007G>C | CA402720019 | MC4R | c.343C>G (p.Gln115Glu) | |
18 | g.60372007G>T | CA402720020 | MC4R | c.343C>A (p.Gln115Lys) | |
18 | g.60372008T>A | CA504305705 | MC4R | c.342A>T (p.Ala114=) | |
18 | g.60372008T>C | CA504305706 | MC4R | c.342A>G (p.Ala114=) | |
18 | g.60372008T>G | CA504305707 | MC4R | c.342A>C (p.Ala114=) | |
18 | g.60372009G>A | CA402720021 | MC4R | c.341C>T (p.Ala114Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.60372009G>C | CA402720022 | MC4R | c.341C>G (p.Ala114Gly) | |
18 | g.60372009G= | CA2307359241 | MC4R | c.341C= (p.Ala114=) | |
18 | g.60372009G>T | CA402720023 | MC4R | c.341C>A (p.Ala114Glu) | gnomAD v4 |
18 | g.60372010C>A | CA402720024 | MC4R | c.340G>T (p.Ala114Ser) | |
18 | g.60372010C>G | CA402720025 | MC4R | c.340G>C (p.Ala114Pro) | |
18 | g.60372010C>T | CA402720026 | MC4R | c.340G>A (p.Ala114Thr) | gnomAD v4 |
18 | g.60372011A>C | CA402720028 | MC4R | c.339T>G (p.Asp113Glu) | |
18 | g.60372011A>G | CA504305708 | MC4R | c.339T>C (p.Asp113=) | |
18 | g.60372011A>T | CA402720027 | MC4R | c.339T>A (p.Asp113Glu) | |
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) |