Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
18 | g.60371859T>C | CA402719695 | MC4R | c.491A>G (p.Lys164Arg) | gnomAD v4 |
18 | g.60371859T>G | CA402719693 | MC4R | c.491A>C (p.Lys164Thr) | |
18 | g.60371860T>A | CA402719696 | MC4R | c.490A>T (p.Lys164Ter) | |
18 | g.60371860T>C | CA402719697 | MC4R | c.490A>G (p.Lys164Glu) | |
18 | g.60371860T>G | CA402719698 | MC4R | c.490A>C (p.Lys164Gln) | gnomAD v4 |
18 | g.60371861A>C | CA504305417 | MC4R | c.489T>G (p.Val163=) | |
18 | g.60371861A>G | CA504305418 | MC4R | c.489T>C (p.Val163=) | |
18 | g.60371861A>T | CA504305420 | MC4R | c.489T>A (p.Val163=) | |
18 | g.60371862A>C | CA402719699 | MC4R | c.488T>G (p.Val163Gly) | |
18 | g.60371862A>G | CA402719700 | MC4R | c.488T>C (p.Val163Ala) | |
18 | g.60371862A>T | CA402719701 | MC4R | c.488T>A (p.Val163Asp) | |
18 | g.60371863C>A | CA402719702 | MC4R | c.487G>T (p.Val163Phe) | |
18 | g.60371863C>G | CA402719703 | MC4R | c.487G>C (p.Val163Leu) | |
18 | g.60371863C>T | CA402719704 | MC4R | c.487G>A (p.Val163Ile) | ClinVar gnomAD v4 |
18 | g.60371864T>A | CA504305425 | MC4R | c.486A>T (p.Thr162=) | dbSNP |
18 | g.60371864T>C | CA504305426 | MC4R | c.486A>G (p.Thr162=) | |
18 | g.60371864T>G | CA504305427 | MC4R | c.486A>C (p.Thr162=) | |
18 | g.60371864T= | CA2307359174 | MC4R | c.486A= (p.Thr162=) | |
18 | g.60371865G>A | CA402719705 | MC4R | c.485C>T (p.Thr162Ile) | ClinVar dbSNP gnomAD v4 |
18 | g.60371865G>C | CA402719706 | MC4R | c.485C>G (p.Thr162Arg) | gnomAD v4 |
18 | g.60371865G= | CA2307359175 | MC4R | c.485C= (p.Thr162=) | |
18 | g.60371865G>T | CA402719707 | MC4R | c.485C>A (p.Thr162Lys) | |
18 | g.60371866T>A | CA402719709 | MC4R | c.484A>T (p.Thr162Ser) | gnomAD v4 |
18 | g.60371866T>C | CA402719710 | MC4R | c.484A>G (p.Thr162Ala) | |
18 | g.60371866T>G | CA402719708 | MC4R | c.484A>C (p.Thr162Pro) | |
18 | g.60371867C>A | CA402719711 | MC4R | c.483G>T (p.Met161Ile) | gnomAD v4 |
18 | g.60371867C>G | CA402719712 | MC4R | c.483G>C (p.Met161Ile) | COSMIC |
18 | g.60371867C>T | CA402719713 | MC4R | c.483G>A (p.Met161Ile) | gnomAD v4 |
18 | g.60371868A= | CA2307359176 | MC4R | c.482T= (p.Met161=) | |
18 | g.60371868A>C | CA402719714 | MC4R | c.482T>G (p.Met161Arg) | |
18 | g.60371868A>G | CA8980912 | MC4R | c.482T>C (p.Met161Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |