Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372205C>A | CA402720436 | MC4R | c.145G>T (p.Glu49Ter) | |
18 | g.60372205C>G | CA402720437 | MC4R | c.145G>C (p.Glu49Gln) | |
18 | g.60372205C>T | CA402720438 | MC4R | c.145G>A (p.Glu49Lys) | |
18 | g.60372206A>C | CA504305535 | MC4R | c.144T>G (p.Pro48=) | |
18 | g.60372206A>G | CA504305536 | MC4R | c.144T>C (p.Pro48=) | |
18 | g.60372206A>T | CA504305537 | MC4R | c.144T>A (p.Pro48=) | |
18 | g.60372207G>A | CA8980974 | MC4R | c.143C>T (p.Pro48Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372207G>C | CA402720440 | MC4R | c.143C>G (p.Pro48Arg) | |
18 | g.60372207G= | CA2307359341 | MC4R | c.143C= (p.Pro48=) | |
18 | g.60372207G>T | CA402720439 | MC4R | c.143C>A (p.Pro48His) | |
18 | g.60372208G>A | CA402720443 | MC4R | c.142C>T (p.Pro48Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60372208G>C | CA402720441 | MC4R | c.142C>G (p.Pro48Ala) | |
18 | g.60372208G= | CA2307359342 | MC4R | c.142C= (p.Pro48=) | |
18 | g.60372208G>T | CA402720442 | MC4R | c.142C>A (p.Pro48Thr) | |
18 | g.60372209A= | CA2307359343 | MC4R | c.141T= (p.Ser47=) | |
18 | g.60372209A>C | CA504305544 | MC4R | c.141T>G (p.Ser47=) | |
18 | g.60372209A>G | CA504305542 | MC4R | c.141T>C (p.Ser47=) | dbSNP |
18 | g.60372209A>T | CA504305541 | MC4R | c.141T>A (p.Ser47=) | |
18 | g.60372210G>A | CA402720444 | MC4R | c.140C>T (p.Ser47Phe) | |
18 | g.60372210G>C | CA402720445 | MC4R | c.140C>G (p.Ser47Cys) | |
18 | g.60372210G>T | CA402720446 | MC4R | c.140C>A (p.Ser47Tyr) | |
18 | g.60372211A>C | CA402720447 | MC4R | c.139T>G (p.Ser47Ala) | |
18 | g.60372211A>G | CA402720448 | MC4R | c.139T>C (p.Ser47Pro) | |
18 | g.60372211A>T | CA402720449 | MC4R | c.139T>A (p.Ser47Thr) | |
18 | g.60372212G>A | CA504305545 | MC4R | c.138C>T (p.Val46=) | |
18 | g.60372212G>C | CA504305546 | MC4R | c.138C>G (p.Val46=) | |
18 | g.60372212G>T | CA504305547 | MC4R | c.138C>A (p.Val46=) | |
18 | g.60372213A= | CA2307359344 | MC4R | c.137T= (p.Val46=) | |
18 | g.60372213A>C | CA402720450 | MC4R | c.137T>G (p.Val46Gly) | |
18 | g.60372213A>G | CA8980975 | MC4R | c.137T>C (p.Val46Ala) | dbSNP ExAC gnomAD v2 |
18 | g.60372213A>T | CA402720451 | MC4R | c.137T>A (p.Val46Asp) | |
18 | g.60372214C>A | CA402720452 | MC4R | c.136G>T (p.Val46Phe) | |
18 | g.60372214C= | CA2307359345 | MC4R | c.136G= (p.Val46=) | |
18 | g.60372214C>G | CA402720453 | MC4R | c.136G>C (p.Val46Leu) | |
18 | g.60372214C>T | CA402720454 | MC4R | c.136G>A (p.Val46Ile) | dbSNP gnomAD v2 gnomAD v4 |
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) |