| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.60371834_60371842del | CA2642029301 | MC4R | c.510_518del (p.Ser171_Ile173del) | gnomAD v4 |
| 18 | g.60371846_60371848del | CA2642029302 | MC4R | c.507_509del (p.Ile170del) | gnomAD v4 |
| 18 | g.60371842T>A | CA402719663 | MC4R | c.508A>T (p.Ile170Leu) | |
| 18 | g.60371842T>C | CA210716 | MC4R | c.508A>G (p.Ile170Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371842T>G | CA402719664 | MC4R | c.508A>C (p.Ile170Leu) | dbSNP |
| 18 | g.60371842T= | CA2307359162 | MC4R | c.508A= (p.Ile170=) | |
| 18 | g.60371843G>A | CA504305377 | MC4R | c.507C>T (p.Ile169=) | gnomAD v4 |
| 18 | g.60371843G>C | CA402719665 | MC4R | c.507C>G (p.Ile169Met) | |
| 18 | g.60371843G>T | CA504305373 | MC4R | c.507C>A (p.Ile169=) | |
| 18 | g.60371844A= | CA2307359163 | MC4R | c.506T= (p.Ile169=) | |
| 18 | g.60371844A>C | CA301530034 | MC4R | c.506T>G (p.Ile169Ser) | dbSNP |
| 18 | g.60371844A>G | CA402719667 | MC4R | c.506T>C (p.Ile169Thr) | |
| 18 | g.60371844A>T | CA402719666 | MC4R | c.506T>A (p.Ile169Asn) | |
| 18 | g.60371845T>A | CA402719669 | MC4R | c.505A>T (p.Ile169Phe) | |
| 18 | g.60371845T>C | CA8980906 | MC4R | c.505A>G (p.Ile169Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371845T>G | CA402719668 | MC4R | c.505A>C (p.Ile169Leu) | |
| 18 | g.60371845T= | CA2307359164 | MC4R | c.505A= (p.Ile169=) | |
| 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=) |