Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372043C>A | CA402720097 | MC4R | c.307G>T (p.Val103Phe) | |
18 | g.60372043C= | CA2307359259 | MC4R | c.307G= (p.Val103=) | |
18 | g.60372043C>G | CA402720098 | MC4R | c.307G>C (p.Val103Leu) | |
18 | g.60372043C>T | CA214825 | MC4R | c.307G>A (p.Val103Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60372044A>C | CA402720099 | MC4R | c.306T>G (p.Ile102Met) | |
18 | g.60372044A>G | CA504305737 | MC4R | c.306T>C (p.Ile102=) | gnomAD v4 |
18 | g.60372044A>T | CA504305739 | MC4R | c.306T>A (p.Ile102=) | |
18 | g.60372045A= | CA2307359260 | MC4R | c.305T= (p.Ile102=) | |
18 | g.60372045A>C | CA210715 | MC4R | c.305T>G (p.Ile102Ser) | ClinVar dbSNP |
18 | g.60372045A>G | CA8980942 | MC4R | c.305T>C (p.Ile102Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372045A>T | CA402720100 | MC4R | c.305T>A (p.Ile102Asn) | gnomAD v4 |
18 | g.60372046T>A | CA402720101 | MC4R | c.304A>T (p.Ile102Phe) | |
18 | g.60372046T>C | CA8980943 | MC4R | c.304A>G (p.Ile102Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372046T>G | CA402720102 | MC4R | c.304A>C (p.Ile102Leu) | |
18 | g.60372046T= | CA2307359261 | MC4R | c.304A= (p.Ile102=) | |
18 | g.60372047G>A | CA504305744 | MC4R | c.303C>T (p.Thr101=) | COSMIC |
18 | g.60372047G>C | CA504305745 | MC4R | c.303C>G (p.Thr101=) | |
18 | g.60372047G= | CA2307359262 | MC4R | c.303C= (p.Thr101=) | |
18 | g.60372047G>T | CA8980944 | MC4R | c.303C>A (p.Thr101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372048G>A | CA402720105 | MC4R | c.302C>T (p.Thr101Ile) | |
18 | g.60372048G>C | CA402720103 | MC4R | c.302C>G (p.Thr101Ser) | dbSNP |
18 | g.60372048G= | CA2307359263 | MC4R | c.302C= (p.Thr101=) | |
18 | g.60372048G>T | CA402720104 | MC4R | c.302C>A (p.Thr101Asn) | |
18 | g.60372049T>A | CA402720106 | MC4R | c.301A>T (p.Thr101Ser) | |
18 | g.60372049T>C | CA402720107 | MC4R | c.301A>G (p.Thr101Ala) | |
18 | g.60372049T>G | CA402720108 | MC4R | c.301A>C (p.Thr101Pro) | |
18 | g.60372050T>A | CA402720109 | MC4R | c.300A>T (p.Glu100Asp) | |
18 | g.60372050T>C | CA504305746 | MC4R | c.300A>G (p.Glu100=) | |
18 | g.60372050T>G | CA402720110 | MC4R | c.300A>C (p.Glu100Asp) | |
18 | g.60372051T>A | CA402720111 | MC4R | c.299A>T (p.Glu100Val) | |
18 | g.60372051T>C | CA402720113 | MC4R | c.299A>G (p.Glu100Gly) | |
18 | g.60372051T>G | CA402720112 | MC4R | c.299A>C (p.Glu100Ala) | |
18 | g.60372052C>A | CA402720114 | MC4R | c.298G>T (p.Glu100Ter) | |
18 | g.60372052C>G | CA402720115 | MC4R | c.298G>C (p.Glu100Gln) | |
18 | g.60372052C>T | CA402720116 | MC4R | c.298G>A (p.Glu100Lys) | |
18 | g.60372053T>A | CA504305751 | MC4R | c.297A>T (p.Ser99=) | |
18 | g.60372053T>C | CA504305752 | MC4R | c.297A>G (p.Ser99=) | |
18 | g.60372053T>G | CA504305753 | MC4R | c.297A>C (p.Ser99=) | |
18 | g.60372054G>A | CA402720117 | MC4R | c.296C>T (p.Ser99Leu) | dbSNP |
18 | g.60372054G>C | CA402720118 | MC4R | c.296C>G (p.Ser99Ter) | |
18 | g.60372054G= | CA2307359264 | MC4R | c.296C= (p.Ser99=) | |
18 | g.60372054G>T | CA402720119 | MC4R | c.296C>A (p.Ser99Ter) | |
18 | g.60372055A>C | CA402720120 | MC4R | c.295T>G (p.Ser99Ala) | |
18 | g.60372055A>G | CA402720121 | MC4R | c.295T>C (p.Ser99Pro) | |
18 | g.60372055A>T | CA402720122 | MC4R | c.295T>A (p.Ser99Thr) | |
18 | g.60372056T>A | CA504305185 | MC4R | c.294A>T (p.Gly98=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60372056T>C | CA504305183 | MC4R | c.294A>G (p.Gly98=) | |
18 | g.60372056T>G | CA504305184 | MC4R | c.294A>C (p.Gly98=) | |
18 | g.60372056T= | CA2307359265 | MC4R | c.294A= (p.Gly98=) | |
18 | g.60372057C>A | CA402720123 | MC4R | c.293G>T (p.Gly98Val) |