Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371846_60371848del | CA2642029302 | MC4R | c.507_509del (p.Ile170del) | gnomAD v4 |
18 | g.60371846G>A | CA504305383 | MC4R | c.504C>T (p.Ile168=) | dbSNP gnomAD v4 |
18 | g.60371846G>C | CA402719670 | MC4R | c.504C>G (p.Ile168Met) | |
18 | g.60371846G= | CA2307359165 | MC4R | c.504C= (p.Ile168=) | |
18 | g.60371846G>T | CA8980907 | MC4R | c.504C>A (p.Ile168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371847A>C | CA402719671 | MC4R | c.503T>G (p.Ile168Ser) | |
18 | g.60371847A>G | CA402719672 | MC4R | c.503T>C (p.Ile168Thr) | |
18 | g.60371847A>T | CA402719673 | MC4R | c.503T>A (p.Ile168Asn) | |
18 | g.60371848T>A | CA402719674 | MC4R | c.502A>T (p.Ile168Phe) | gnomAD v4 COSMIC |
18 | g.60371848T>C | CA402719675 | MC4R | c.502A>G (p.Ile168Val) | |
18 | g.60371848T>G | CA402719676 | MC4R | c.502A>C (p.Ile168Leu) | |
18 | g.60371849C>A | CA504305395 | MC4R | c.501G>T (p.Gly167=) | COSMIC |
18 | g.60371849C= | CA2307359166 | MC4R | c.501G= (p.Gly167=) | |
18 | g.60371849C>G | CA504305397 | MC4R | c.501G>C (p.Gly167=) | |
18 | g.60371849C>T | CA8980908 | MC4R | c.501G>A (p.Gly167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371850C>A | CA402719677 | MC4R | c.500G>T (p.Gly167Val) | |
18 | g.60371850C>G | CA402719678 | MC4R | c.500G>C (p.Gly167Ala) | |
18 | g.60371850C>T | CA402719679 | MC4R | c.500G>A (p.Gly167Glu) | |
18 | g.60371851C>A | CA402719682 | MC4R | c.499G>T (p.Gly167Trp) | gnomAD v4 |
18 | g.60371851C>G | CA402719681 | MC4R | c.499G>C (p.Gly167Arg) | |
18 | g.60371851C>T | CA402719680 | MC4R | c.499G>A (p.Gly167Arg) | |
18 | g.60371852A>C | CA504305400 | MC4R | c.498T>G (p.Val166=) | |
18 | g.60371852A>G | CA504305401 | MC4R | c.498T>C (p.Val166=) | |
18 | g.60371852A>T | CA504305403 | MC4R | c.498T>A (p.Val166=) | |
18 | g.60371853A>C | CA402719683 | MC4R | c.497T>G (p.Val166Gly) | |
18 | g.60371853A>G | CA402719684 | MC4R | c.497T>C (p.Val166Ala) | |
18 | g.60371853A>T | CA402719685 | MC4R | c.497T>A (p.Val166Asp) | |
18 | g.60371854C>A | CA402719686 | MC4R | c.496G>T (p.Val166Phe) | |
18 | g.60371854C= | CA2307359167 | MC4R | c.496G= (p.Val166=) | |
18 | g.60371854C>G | CA402719687 | MC4R | c.496G>C (p.Val166Leu) | |
18 | g.60371854C>T | CA301530035 | MC4R | c.496G>A (p.Val166Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371855C>A | CA504305404 | MC4R | c.495G>T (p.Arg165=) | |
18 | g.60371855C= | CA2307359168 | MC4R | c.495G= (p.Arg165=) | |
18 | g.60371855C>G | CA504305405 | MC4R | c.495G>C (p.Arg165=) | |
18 | g.60371855C>T | CA301530036 | MC4R | c.495G>A (p.Arg165=) | ClinVar dbSNP gnomAD v4 |
18 | g.60371856C>A | CA402719688 | MC4R | c.494G>T (p.Arg165Leu) | |
18 | g.60371856C= | CA2307359170 | MC4R | c.494G= (p.Arg165=) | |
18 | g.60371856C>G | CA402719689 | MC4R | c.494G>C (p.Arg165Pro) | |
18 | g.60371856C>T | CA8980909 | MC4R | c.494G>A (p.Arg165Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.60371856_60371857delinsCG | CA2307359169 | MC4R | c.493_494delinsCG (p.Arg165=) | |
18 | g.60371857del | CA2307359171 | MC4R | c.493del (p.Arg165GlyfsTer6) | dbSNP |
18 | g.60371857G>A | CA8980910 | MC4R | c.493C>T (p.Arg165Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.60371857G>C | CA402719690 | MC4R | c.493C>G (p.Arg165Gly) | dbSNP |
18 | g.60371857G= | CA2307359172 | MC4R | c.493C= (p.Arg165=) | |
18 | g.60371857G>T | CA504305410 | MC4R | c.493C>A (p.Arg165=) | dbSNP gnomAD v2 |
18 | g.60371858C>A | CA402719691 | MC4R | c.492G>T (p.Lys164Asn) | |
18 | g.60371858C= | CA2307359173 | MC4R | c.492G= (p.Lys164=) | |
18 | g.60371858C>G | CA402719692 | MC4R | c.492G>C (p.Lys164Asn) | |
18 | g.60371858C>T | CA8980911 | MC4R | c.492G>A (p.Lys164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371859T>A | CA402719694 | MC4R | c.491A>T (p.Lys164Met) |