Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13884937_13884940delinsCACA | CA2285919345 | MC2R | c.579_582delinsTGTG (p.Tyr193=) | |
18 | g.13884938A>C | CA401994827 | MC2R | c.581T>G (p.Val194Gly) | gnomAD v4 |
18 | g.13884938A>G | CA401994828 | MC2R | c.581T>C (p.Val194Ala) | |
18 | g.13884938A>T | CA401994830 | MC2R | c.581T>A (p.Val194Glu) | |
18 | g.13884938_13884940del | CA10603618 | MC2R | c.579_581del (p.Tyr193Ter) | ClinVar dbSNP |
18 | g.13884939C>A | CA401994833 | MC2R | c.580G>T (p.Val194Leu) | gnomAD v4 |
18 | g.13884939C>G | CA401994836 | MC2R | c.580G>C (p.Val194Leu) | |
18 | g.13884939C>T | CA401994834 | MC2R | c.580G>A (p.Val194Met) | |
18 | g.13884939_13884941delinsCAT | CA2285919346 | MC2R | c.578_580delinsATG (p.Tyr193=) | |
18 | g.13884940A= | CA2285919347 | MC2R | c.579T= (p.Tyr193=) | |
18 | g.13884940A>C | CA401994839 | MC2R | c.579T>G (p.Tyr193Ter) | dbSNP |
18 | g.13884940A>G | CA8902446 | MC2R | c.579T>C (p.Tyr193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884940A>T | CA401994841 | MC2R | c.579T>A (p.Tyr193Ter) | |
18 | g.13884941_13884942del | CA8902445 | MC2R | c.578_579del (p.Tyr193CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884941T>A | CA401994843 | MC2R | c.578A>T (p.Tyr193Phe) | |
18 | g.13884941T>C | CA8902447 | MC2R | c.578A>G (p.Tyr193Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884941T>G | CA401994845 | MC2R | c.578A>C (p.Tyr193Ser) | |
18 | g.13884941T= | CA2285919348 | MC2R | c.578A= (p.Tyr193=) | |
18 | g.13884942A>C | CA401994848 | MC2R | c.577T>G (p.Tyr193Asp) | |
18 | g.13884942A>G | CA401994849 | MC2R | c.577T>C (p.Tyr193His) | |
18 | g.13884942A>T | CA401994851 | MC2R | c.577T>A (p.Tyr193Asn) | |
18 | g.13884943G>A | CA503248445 | MC2R | c.576C>T (p.Leu192=) | |
18 | g.13884943G>C | CA503248447 | MC2R | c.576C>G (p.Leu192=) | |
18 | g.13884943G>T | CA503248448 | MC2R | c.576C>A (p.Leu192=) | |
18 | g.13884944A>C | CA401994853 | MC2R | c.575T>G (p.Leu192Arg) | |
18 | g.13884944A>G | CA401994854 | MC2R | c.575T>C (p.Leu192Pro) | |
18 | g.13884944A>T | CA401994856 | MC2R | c.575T>A (p.Leu192His) | |
18 | g.13884945G>A | CA401994857 | MC2R | c.574C>T (p.Leu192Phe) | |
18 | g.13884945G>C | CA401994858 | MC2R | c.574C>G (p.Leu192Val) | |
18 | g.13884945G>T | CA401994859 | MC2R | c.574C>A (p.Leu192Ile) | |
18 | g.13884946G>A | CA8902448 | MC2R | c.573C>T (p.Cys191=) | dbSNP ExAC gnomAD v2 COSMIC |
18 | g.13884946G>C | CA401994862 | MC2R | c.573C>G (p.Cys191Trp) | |
18 | g.13884946G= | CA2285919349 | MC2R | c.573C= (p.Cys191=) | |
18 | g.13884946G>T | CA401994863 | MC2R | c.573C>A (p.Cys191Ter) | ClinVar dbSNP |
18 | g.13884947C>A | CA401994867 | MC2R | c.572G>T (p.Cys191Phe) | |
18 | g.13884947C= | CA2285919350 | MC2R | c.572G= (p.Cys191=) | |
18 | g.13884947C>G | CA401994869 | MC2R | c.572G>C (p.Cys191Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884947C>T | CA401994865 | MC2R | c.572G>A (p.Cys191Tyr) | gnomAD v4 |
18 | g.13884948A>C | CA401994871 | MC2R | c.571T>G (p.Cys191Gly) | |
18 | g.13884948A>G | CA401994873 | MC2R | c.571T>C (p.Cys191Arg) | gnomAD v4 |
18 | g.13884948A>T | CA401994876 | MC2R | c.571T>A (p.Cys191Ser) | |
18 | g.13884949C>A | CA503248459 | MC2R | c.570G>T (p.Leu190=) | |
18 | g.13884949C>G | CA503248461 | MC2R | c.570G>C (p.Leu190=) | |
18 | g.13884949C>T | CA503248460 | MC2R | c.570G>A (p.Leu190=) | |
18 | g.13884950A>C | CA401994877 | MC2R | c.569T>G (p.Leu190Arg) | ClinVar |
18 | g.13884950A>G | CA401994878 | MC2R | c.569T>C (p.Leu190Pro) | |
18 | g.13884950A>T | CA401994880 | MC2R | c.569T>A (p.Leu190Gln) | |
18 | g.13884951G>A | CA503248464 | MC2R | c.568C>T (p.Leu190=) | gnomAD v4 |
18 | g.13884951G>C | CA401994883 | MC2R | c.568C>G (p.Leu190Val) | |
18 | g.13884951G>T | CA401994885 | MC2R | c.568C>A (p.Leu190Met) |