| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13885100C>A | CA401995290 | MC2R | c.419G>T (p.Ser140Ile) | |
| 18 | g.13885100C= | CA2285919420 | MC2R | c.419G= (p.Ser140=) | |
| 18 | g.13885100C>G | CA401995291 | MC2R | c.419G>C (p.Ser140Thr) | |
| 18 | g.13885100C>T | CA8902485 | MC2R | c.419G>A (p.Ser140Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885101T>A | CA401995294 | MC2R | c.418A>T (p.Ser140Cys) | |
| 18 | g.13885101T>C | CA401995292 | MC2R | c.418A>G (p.Ser140Gly) | |
| 18 | g.13885101T>G | CA401995293 | MC2R | c.418A>C (p.Ser140Arg) | |
| 18 | g.13885102G>A | CA503248336 | MC2R | c.417C>T (p.His139=) | gnomAD v4 |
| 18 | g.13885102G>C | CA8902486 | MC2R | c.417C>G (p.His139Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885102G= | CA2285919421 | MC2R | c.417C= (p.His139=) | |
| 18 | g.13885102G>T | CA401995295 | MC2R | c.417C>A (p.His139Gln) | |
| 18 | g.13885103T>A | CA401995296 | MC2R | c.416A>T (p.His139Leu) | |
| 18 | g.13885103T>C | CA8902487 | MC2R | c.416A>G (p.His139Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885103T>G | CA401995297 | MC2R | c.416A>C (p.His139Pro) | |
| 18 | g.13885103T= | CA2285919422 | MC2R | c.416A= (p.His139=) | |
| 18 | g.13885104G>A | CA401995298 | MC2R | c.415C>T (p.His139Tyr) | |
| 18 | g.13885104G>C | CA401995299 | MC2R | c.415C>G (p.His139Asp) | |
| 18 | g.13885104G>T | CA401995300 | MC2R | c.415C>A (p.His139Asn) | |
| 18 | g.13885105G>A | CA503248342 | MC2R | c.414C>T (p.Tyr138=) | |
| 18 | g.13885105G>C | CA8902488 | MC2R | c.414C>G (p.Tyr138Ter) | dbSNP ExAC gnomAD v2 |
| 18 | g.13885105G= | CA2285919423 | MC2R | c.414C= (p.Tyr138=) | |
| 18 | g.13885105G>T | CA401995301 | MC2R | c.414C>A (p.Tyr138Ter) | |
| 18 | g.13885106T>A | CA401995303 | MC2R | c.413A>T (p.Tyr138Phe) | dbSNP |
| 18 | g.13885106T>C | CA401995304 | MC2R | c.413A>G (p.Tyr138Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885106T>G | CA401995302 | MC2R | c.413A>C (p.Tyr138Ser) | |
| 18 | g.13885106T= | CA2285919424 | MC2R | c.413A= (p.Tyr138=) | |
| 18 | g.13885107A>C | CA401995305 | MC2R | c.412T>G (p.Tyr138Asp) | |
| 18 | g.13885107A>G | CA401995306 | MC2R | c.412T>C (p.Tyr138His) | |
| 18 | g.13885107A>T | CA401995307 | MC2R | c.412T>A (p.Tyr138Asn) | |
| 18 | g.13885108C>A | CA503248344 | MC2R | c.411G>T (p.Arg137=) | |
| 18 | g.13885108C= | CA2285919425 | MC2R | c.411G= (p.Arg137=) | |
| 18 | g.13885108C>G | CA8902489 | MC2R | c.411G>C (p.Arg137=) | dbSNP ExAC |
| 18 | g.13885108C>T | CA503248347 | MC2R | c.411G>A (p.Arg137=) | gnomAD v4 |
| 18 | g.13885109C>A | CA401995308 | MC2R | c.410G>T (p.Arg137Leu) | |
| 18 | g.13885109C= | CA2285919426 | MC2R | c.410G= (p.Arg137=) | |
| 18 | g.13885109C>G | CA401995309 | MC2R | c.410G>C (p.Arg137Pro) | ClinVar dbSNP |
| 18 | g.13885109C>T | CA401995310 | MC2R | c.410G>A (p.Arg137Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885110G>A | CA116123 | MC2R | c.409C>T (p.Arg137Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885110G>C | CA401995311 | MC2R | c.409C>G (p.Arg137Gly) | |
| 18 | g.13885110G= | CA2285919427 | MC2R | c.409C= (p.Arg137=) | |
| 18 | g.13885110G>T | CA8902490 | MC2R | c.409C>A (p.Arg137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885111C>A | CA503248352 | MC2R | c.408G>T (p.Leu136=) | |
| 18 | g.13885111C>G | CA503248353 | MC2R | c.408G>C (p.Leu136=) | |
| 18 | g.13885111C>T | CA503248354 | MC2R | c.408G>A (p.Leu136=) | |
| 18 | g.13885112A>C | CA401995312 | MC2R | c.407T>G (p.Leu136Arg) | |
| 18 | g.13885112A>G | CA401995313 | MC2R | c.407T>C (p.Leu136Pro) | |
| 18 | g.13885112A>T | CA401995314 | MC2R | c.407T>A (p.Leu136Gln) | |
| 18 | g.13885113G>A | CA503248356 | MC2R | c.406C>T (p.Leu136=) | |
| 18 | g.13885113G>C | CA401995315 | MC2R | c.406C>G (p.Leu136Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885113G= | CA2285919428 | MC2R | c.406C= (p.Leu136=) |