Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371529T>A | CA402719009 | MC4R | c.821A>T (p.Asn274Ile) | |
18 | g.60371529T>C | CA210717 | MC4R | c.821A>G (p.Asn274Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371529T>G | CA402719010 | MC4R | c.821A>C (p.Asn274Thr) | |
18 | g.60371529T= | CA2307358999 | MC4R | c.821A= (p.Asn274=) | |
18 | g.60371530T>A | CA402719011 | MC4R | c.820A>T (p.Asn274Tyr) | |
18 | g.60371530T>C | CA402719013 | MC4R | c.820A>G (p.Asn274Asp) | |
18 | g.60371530T>G | CA402719012 | MC4R | c.820A>C (p.Asn274His) | |
18 | g.60371531C>A | CA8980833 | MC4R | c.819G>T (p.Gln273His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.60371531C= | CA2307359000 | MC4R | c.819G= (p.Gln273=) | |
18 | g.60371531C>G | CA402719014 | MC4R | c.819G>C (p.Gln273His) | |
18 | g.60371531C>T | CA504305238 | MC4R | c.819G>A (p.Gln273=) | |
18 | g.60371532T>A | CA402719015 | MC4R | c.818A>T (p.Gln273Leu) | |
18 | g.60371532T>C | CA402719016 | MC4R | c.818A>G (p.Gln273Arg) | gnomAD v4 |
18 | g.60371532T>G | CA402719017 | MC4R | c.818A>C (p.Gln273Pro) | |
18 | g.60371533G>A | CA402719018 | MC4R | c.817C>T (p.Gln273Ter) | ClinVar dbSNP gnomAD v4 |
18 | g.60371533G>C | CA402719019 | MC4R | c.817C>G (p.Gln273Glu) | |
18 | g.60371533G= | CA2307359001 | MC4R | c.817C= (p.Gln273=) | |
18 | g.60371533G>T | CA402719020 | MC4R | c.817C>A (p.Gln273Lys) | |
18 | g.60371534A>C | CA504305248 | MC4R | c.816T>G (p.Pro272=) | |
18 | g.60371534A>G | CA504305249 | MC4R | c.816T>C (p.Pro272=) | |
18 | g.60371534A>T | CA504305251 | MC4R | c.816T>A (p.Pro272=) | |
18 | g.60371535G>A | CA402719021 | MC4R | c.815C>T (p.Pro272Leu) | ClinVar |
18 | g.60371535G>C | CA402719022 | MC4R | c.815C>G (p.Pro272Arg) | ClinVar dbSNP |
18 | g.60371535G= | CA2307359002 | MC4R | c.815C= (p.Pro272=) | |
18 | g.60371535G>T | CA402719023 | MC4R | c.815C>A (p.Pro272His) | |
18 | g.60371536G>A | CA402719026 | MC4R | c.814C>T (p.Pro272Ser) | |
18 | g.60371536G>C | CA402719025 | MC4R | c.814C>G (p.Pro272Ala) | |
18 | g.60371536G>T | CA402719024 | MC4R | c.814C>A (p.Pro272Thr) | |
18 | g.60371537A>C | CA402719027 | MC4R | c.813T>G (p.Cys271Trp) | |
18 | g.60371537A>G | CA504305262 | MC4R | c.813T>C (p.Cys271=) | gnomAD v4 |
18 | g.60371537A>T | CA402719028 | MC4R | c.813T>A (p.Cys271Ter) | |
18 | g.60371538C>A | CA402719029 | MC4R | c.812G>T (p.Cys271Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371538C= | CA2307359003 | MC4R | c.812G= (p.Cys271=) | |
18 | g.60371538C>G | CA402719030 | MC4R | c.812G>C (p.Cys271Ser) | |
18 | g.60371538C>T | CA210718 | MC4R | c.812G>A (p.Cys271Tyr) | ClinVar dbSNP gnomAD v4 |
18 | g.60371539A= | CA2307359004 | MC4R | c.811T= (p.Cys271=) | |
18 | g.60371539A>C | CA402719031 | MC4R | c.811T>G (p.Cys271Gly) | |
18 | g.60371539A>G | CA16043070 | MC4R | c.811T>C (p.Cys271Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.60371539A>T | CA402719032 | MC4R | c.811T>A (p.Cys271Ser) | |
18 | g.60371540A>C | CA504305269 | MC4R | c.810T>G (p.Ser270=) | |
18 | g.60371540A>G | CA504305270 | MC4R | c.810T>C (p.Ser270=) | |
18 | g.60371540A>T | CA504305271 | MC4R | c.810T>A (p.Ser270=) | |
18 | g.60371541G>A | CA301530013 | MC4R | c.809C>T (p.Ser270Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371541G>C | CA402719033 | MC4R | c.809C>G (p.Ser270Cys) | |
18 | g.60371541G= | CA2307359005 | MC4R | c.809C= (p.Ser270=) | |
18 | g.60371541G>T | CA402719034 | MC4R | c.809C>A (p.Ser270Tyr) | |
18 | g.60371542A>C | CA402719037 | MC4R | c.808T>G (p.Ser270Ala) | |
18 | g.60371542A>G | CA402719036 | MC4R | c.808T>C (p.Ser270Pro) | |
18 | g.60371542A>T | CA402719035 | MC4R | c.808T>A (p.Ser270Thr) | |
18 | g.60371543G>A | CA504305135 | MC4R | c.807C>T (p.Ile269=) |