Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371872T>A | CA402719722 | MC4R | c.478A>T (p.Ile160Phe) | |
18 | g.60371872T>C | CA402719724 | MC4R | c.478A>G (p.Ile160Val) | gnomAD v4 |
18 | g.60371872T>G | CA402719723 | MC4R | c.478A>C (p.Ile160Leu) | |
18 | g.60371873G>A | CA504305442 | MC4R | c.477C>T (p.Asn159=) | |
18 | g.60371873G>C | CA402719725 | MC4R | c.477C>G (p.Asn159Lys) | gnomAD v4 |
18 | g.60371873G>T | CA402719726 | MC4R | c.477C>A (p.Asn159Lys) | |
18 | g.60371874T>A | CA402719727 | MC4R | c.476A>T (p.Asn159Ile) | |
18 | g.60371874T>C | CA402719728 | MC4R | c.476A>G (p.Asn159Ser) | COSMIC |
18 | g.60371874T>G | CA402719729 | MC4R | c.476A>C (p.Asn159Thr) | |
18 | g.60371875T>A | CA402719730 | MC4R | c.475A>T (p.Asn159Tyr) | |
18 | g.60371875T>C | CA402719731 | MC4R | c.475A>G (p.Asn159Asp) | gnomAD v4 |
18 | g.60371875T>G | CA402719732 | MC4R | c.475A>C (p.Asn159His) | |
18 | g.60371876A= | CA2307359178 | MC4R | c.474T= (p.His158=) | |
18 | g.60371876A>C | CA402719733 | MC4R | c.474T>G (p.His158Gln) | |
18 | g.60371876A>G | CA8980914 | MC4R | c.474T>C (p.His158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371876A>T | CA402719734 | MC4R | c.474T>A (p.His158Gln) | |
18 | g.60371877T>A | CA402719735 | MC4R | c.473A>T (p.His158Leu) | |
18 | g.60371877T>C | CA8980915 | MC4R | c.473A>G (p.His158Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371877T>G | CA402719736 | MC4R | c.473A>C (p.His158Pro) | |
18 | g.60371877T= | CA2307359179 | MC4R | c.473A= (p.His158=) | |
18 | g.60371878G>A | CA402719739 | MC4R | c.472C>T (p.His158Tyr) | |
18 | g.60371878G>C | CA402719737 | MC4R | c.472C>G (p.His158Asp) | gnomAD v4 |
18 | g.60371878G>T | CA402719738 | MC4R | c.472C>A (p.His158Asn) | COSMIC |
18 | g.60371879G>A | CA504305448 | MC4R | c.471C>T (p.Tyr157=) | |
18 | g.60371879G>C | CA402719740 | MC4R | c.471C>G (p.Tyr157Ter) | |
18 | g.60371879G>T | CA402719741 | MC4R | c.471C>A (p.Tyr157Ter) | |
18 | g.60371880T>A | CA402719742 | MC4R | c.470A>T (p.Tyr157Phe) | |
18 | g.60371880T>C | CA402719743 | MC4R | c.470A>G (p.Tyr157Cys) | |
18 | g.60371880T>G | CA8980916 | MC4R | c.470A>C (p.Tyr157Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371880T= | CA2307359180 | MC4R | c.470A= (p.Tyr157=) | |
18 | g.60371881A>C | CA402719744 | MC4R | c.469T>G (p.Tyr157Asp) | |
18 | g.60371881A>G | CA402719745 | MC4R | c.469T>C (p.Tyr157His) | |
18 | g.60371881A>T | CA402719746 | MC4R | c.469T>A (p.Tyr157Asn) | |
18 | g.60371882C>A | CA402719747 | MC4R | c.468G>T (p.Gln156His) | |
18 | g.60371882C= | CA2307359181 | MC4R | c.468G= (p.Gln156=) | |
18 | g.60371882C>G | CA402719748 | MC4R | c.468G>C (p.Gln156His) | |
18 | g.60371882C>T | CA8980917 | MC4R | c.468G>A (p.Gln156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371883T>A | CA402719750 | MC4R | c.467A>T (p.Gln156Leu) | |
18 | g.60371883T>C | CA402719751 | MC4R | c.467A>G (p.Gln156Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371883T>G | CA402719749 | MC4R | c.467A>C (p.Gln156Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371883T= | CA2307359182 | MC4R | c.467A= (p.Gln156=) | |
18 | g.60371884G>A | CA301530037 | MC4R | c.466C>T (p.Gln156Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371884G>C | CA402719752 | MC4R | c.466C>G (p.Gln156Glu) | |
18 | g.60371884G= | CA2307359183 | MC4R | c.466C= (p.Gln156=) | |
18 | g.60371884G>T | CA301530038 | MC4R | c.466C>A (p.Gln156Lys) | dbSNP gnomAD v4 |
18 | g.60371885G>A | CA504305449 | MC4R | c.465C>T (p.Leu155=) | gnomAD v4 |
18 | g.60371885G>C | CA504305450 | MC4R | c.465C>G (p.Leu155=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371885G= | CA2307359184 | MC4R | c.465C= (p.Leu155=) | |
18 | g.60371885G>T | CA504305451 | MC4R | c.465C>A (p.Leu155=) | |
18 | g.60371886A>C | CA402719753 | MC4R | c.464T>G (p.Leu155Arg) |