Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371765G>A | CA504305569 | MC4R | c.585C>T (p.Ile195=) | |
18 | g.60371765G>C | CA402719498 | MC4R | c.585C>G (p.Ile195Met) | ClinVar dbSNP |
18 | g.60371765G= | CA2307359121 | MC4R | c.585C= (p.Ile195=) | |
18 | g.60371765G>T | CA504305571 | MC4R | c.585C>A (p.Ile195=) | |
18 | g.60371766A= | CA2307359122 | MC4R | c.584T= (p.Ile195=) | |
18 | g.60371766A>C | CA8980888 | MC4R | c.584T>G (p.Ile195Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371766A>G | CA301530030 | MC4R | c.584T>C (p.Ile195Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371766A>T | CA402719499 | MC4R | c.584T>A (p.Ile195Asn) | |
18 | g.60371767T>A | CA402719501 | MC4R | c.583A>T (p.Ile195Phe) | |
18 | g.60371767T>C | CA8980889 | MC4R | c.583A>G (p.Ile195Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371767T>G | CA402719500 | MC4R | c.583A>C (p.Ile195Leu) | |
18 | g.60371767T= | CA2307359123 | MC4R | c.583A= (p.Ile195=) | |
18 | g.60371768G>A | CA504305573 | MC4R | c.582C>T (p.Ile194=) | |
18 | g.60371768G>C | CA402719502 | MC4R | c.582C>G (p.Ile194Met) | |
18 | g.60371768G>T | CA504305574 | MC4R | c.582C>A (p.Ile194=) | |
18 | g.60371769A>C | CA402719503 | MC4R | c.581T>G (p.Ile194Ser) | |
18 | g.60371769A>G | CA402719504 | MC4R | c.581T>C (p.Ile194Thr) | |
18 | g.60371769A>T | CA402719505 | MC4R | c.581T>A (p.Ile194Asn) | |
18 | g.60371770T>A | CA402719506 | MC4R | c.580A>T (p.Ile194Phe) | |
18 | g.60371770T>C | CA402719507 | MC4R | c.580A>G (p.Ile194Val) | |
18 | g.60371770T>G | CA402719508 | MC4R | c.580A>C (p.Ile194Leu) | |
18 | g.60371771G>A | CA504305576 | MC4R | c.579C>T (p.Val193=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371771G>C | CA504305578 | MC4R | c.579C>G (p.Val193=) | |
18 | g.60371771G= | CA2307359124 | MC4R | c.579C= (p.Val193=) | |
18 | g.60371771G>T | CA504305580 | MC4R | c.579C>A (p.Val193=) | |
18 | g.60371772A>C | CA402719509 | MC4R | c.578T>G (p.Val193Gly) | |
18 | g.60371772A>G | CA402719510 | MC4R | c.578T>C (p.Val193Ala) | |
18 | g.60371772A>T | CA402719511 | MC4R | c.578T>A (p.Val193Asp) | |
18 | g.60371773C>A | CA402719512 | MC4R | c.577G>T (p.Val193Phe) | |
18 | g.60371773C= | CA2307359125 | MC4R | c.577G= (p.Val193=) | |
18 | g.60371773C>G | CA402719513 | MC4R | c.577G>C (p.Val193Leu) | |
18 | g.60371773C>T | CA402719514 | MC4R | c.577G>A (p.Val193Ile) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371774A>C | CA504305584 | MC4R | c.576T>G (p.Ala192=) | |
18 | g.60371774A>G | CA504305582 | MC4R | c.576T>C (p.Ala192=) | |
18 | g.60371774A>T | CA504305583 | MC4R | c.576T>A (p.Ala192=) | gnomAD v4 |
18 | g.60371775G>A | CA402719517 | MC4R | c.575C>T (p.Ala192Val) | |
18 | g.60371775G>C | CA402719516 | MC4R | c.575C>G (p.Ala192Gly) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60371775G= | CA2307359126 | MC4R | c.575C= (p.Ala192=) | |
18 | g.60371775G>T | CA402719515 | MC4R | c.575C>A (p.Ala192Asp) | |
18 | g.60371776C>A | CA402719518 | MC4R | c.574G>T (p.Ala192Ser) | |
18 | g.60371776C>G | CA402719519 | MC4R | c.574G>C (p.Ala192Pro) | |
18 | g.60371776C>T | CA402719520 | MC4R | c.574G>A (p.Ala192Thr) | |
18 | g.60371776_60371779delinsCACT | CA2307359127 | MC4R | c.571_574delinsAGTG (p.Ser191=) | |
18 | g.60371777A= | CA2307359128 | MC4R | c.573T= (p.Ser191=) | |
18 | g.60371777A>C | CA402719521 | MC4R | c.573T>G (p.Ser191Arg) | |
18 | g.60371777A>G | CA8980890 | MC4R | c.573T>C (p.Ser191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371777A>T | CA402719522 | MC4R | c.573T>A (p.Ser191Arg) | |
18 | g.60371781_60371783del | CA504305587 | MC4R | c.571_573del (p.Ser191del) | dbSNP |
18 | g.60371778C>A | CA402719523 | MC4R | c.572G>T (p.Ser191Ile) | |
18 | g.60371778C= | CA2307359129 | MC4R | c.572G= (p.Ser191=) |