Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372215A>C | CA402720455 | MC4R | c.135T>G (p.Phe45Leu) | |
18 | g.60372215A>G | CA504305551 | MC4R | c.135T>C (p.Phe45=) | gnomAD v4 |
18 | g.60372215A>T | CA402720456 | MC4R | c.135T>A (p.Phe45Leu) | |
18 | g.60372219dup | CA2812704170 | MC4R | c.135dup (p.Val46CysfsTer4) | |
18 | g.60372216A>C | CA402720457 | MC4R | c.134T>G (p.Phe45Cys) | |
18 | g.60372216A>G | CA402720458 | MC4R | c.134T>C (p.Phe45Ser) | |
18 | g.60372216A>T | CA402720459 | MC4R | c.134T>A (p.Phe45Tyr) | |
18 | g.60372217A>C | CA402720460 | MC4R | c.133T>G (p.Phe45Val) | |
18 | g.60372217A>G | CA402720461 | MC4R | c.133T>C (p.Phe45Leu) | |
18 | g.60372217A>T | CA402720462 | MC4R | c.133T>A (p.Phe45Ile) | |
18 | g.60372218A= | CA2307359346 | MC4R | c.132T= (p.Leu44=) | |
18 | g.60372218A>C | CA504305553 | MC4R | c.132T>G (p.Leu44=) | |
18 | g.60372218A>G | CA504305554 | MC4R | c.132T>C (p.Leu44=) | dbSNP |
18 | g.60372218A>T | CA504305555 | MC4R | c.132T>A (p.Leu44=) | |
18 | g.60372219A>C | CA402720463 | MC4R | c.131T>G (p.Leu44Arg) | |
18 | g.60372219A>G | CA402720464 | MC4R | c.131T>C (p.Leu44Pro) | |
18 | g.60372219A>T | CA402720465 | MC4R | c.131T>A (p.Leu44His) | |
18 | g.60372220G>A | CA402720466 | MC4R | c.130C>T (p.Leu44Phe) | dbSNP |
18 | g.60372220G>C | CA402720467 | MC4R | c.130C>G (p.Leu44Val) | gnomAD v4 |
18 | g.60372220G= | CA2307359347 | MC4R | c.130C= (p.Leu44=) | |
18 | g.60372220G>T | CA402720468 | MC4R | c.130C>A (p.Leu44Ile) | |
18 | g.60372221T>A | CA402720470 | MC4R | c.129A>T (p.Gln43His) | |
18 | g.60372221T>C | CA8980976 | MC4R | c.129A>G (p.Gln43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372221T>G | CA402720469 | MC4R | c.129A>C (p.Gln43His) | |
18 | g.60372221T= | CA2307359348 | MC4R | c.129A= (p.Gln43=) | |
18 | g.60372222T>A | CA402720471 | MC4R | c.128A>T (p.Gln43Leu) | |
18 | g.60372222T>C | CA402720473 | MC4R | c.128A>G (p.Gln43Arg) | |
18 | g.60372222T>G | CA402720472 | MC4R | c.128A>C (p.Gln43Pro) | |
18 | g.60372223G>A | CA402720474 | MC4R | c.127C>T (p.Gln43Ter) | dbSNP gnomAD v4 |
18 | g.60372223G>C | CA402720475 | MC4R | c.127C>G (p.Gln43Glu) | |
18 | g.60372223G= | CA2307359349 | MC4R | c.127C= (p.Gln43=) | |
18 | g.60372223G>T | CA402720476 | MC4R | c.127C>A (p.Gln43Lys) | ClinVar gnomAD v4 |
18 | g.60372224C>A | CA402720477 | MC4R | c.126G>T (p.Glu42Asp) | |
18 | g.60372224C= | CA2307359350 | MC4R | c.126G= (p.Glu42=) | |
18 | g.60372224C>G | CA402720478 | MC4R | c.126G>C (p.Glu42Asp) | dbSNP gnomAD v4 |
18 | g.60372224C>T | CA504305557 | MC4R | c.126G>A (p.Glu42=) | |
18 | g.60372224_60372225delinsCT | CA2307359351 | MC4R | c.125_126delinsAG (p.Glu42=) | |
18 | g.60372225del | CA2307359352 | MC4R | c.125del (p.Glu42GlyfsTer11) | dbSNP gnomAD v4 |
18 | g.60372225T>A | CA402720481 | MC4R | c.125A>T (p.Glu42Val) | |
18 | g.60372225T>C | CA402720480 | MC4R | c.125A>G (p.Glu42Gly) | |
18 | g.60372225T>G | CA402720479 | MC4R | c.125A>C (p.Glu42Ala) | |
18 | g.60372226C>A | CA402720482 | MC4R | c.124G>T (p.Glu42Ter) | |
18 | g.60372226C= | CA2307359353 | MC4R | c.124G= (p.Glu42=) | |
18 | g.60372226C>G | CA402720483 | MC4R | c.124G>C (p.Glu42Gln) | dbSNP |
18 | g.60372226C>T | CA8980977 | MC4R | c.124G>A (p.Glu42Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.60372227G>A | CA8980978 | MC4R | c.123C>T (p.Tyr41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.60372227G>C | CA402720484 | MC4R | c.123C>G (p.Tyr41Ter) | |
18 | g.60372227G= | CA2307359354 | MC4R | c.123C= (p.Tyr41=) | |
18 | g.60372227G>T | CA402720485 | MC4R | c.123C>A (p.Tyr41Ter) | |
18 | g.60372228T>A | CA402720486 | MC4R | c.122A>T (p.Tyr41Phe) |