| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-89986504-TT-GC | MC1R | c.838_839delTTinsGC | p.Phe280Ala | Missense | 1/1 | - |
| 16-89986027-G-A | MC1R | c.361G>A | p.Asp121Asn | Missense | 1/1 | - |
| 16-89986252-TT-GC | MC1R | c.586_587delTTinsGC | p.Phe196Ala | Missense | 1/1 | - |
| 16-89986213-TA-GC | MC1R | c.547_548delTAinsGC | p.Tyr183Ala | Missense | 1/1 | - |
| 16-89986444-CA-GC | MC1R | c.778_779delCAinsGC | p.His260Ala | Missense | 1/1 | - |
| 16-89986201-TT-GC | MC1R | c.535_536delTTinsGC | p.Phe179Ala | Missense | 1/1 | - |
| 16-89986435-TT-GC | MC1R | c.769_770delTTinsGC | p.Phe257Ala | Missense | 1/1 | - |
| 18-13884973-AA-GC | MC2R | c.544_545delTTinsGC | p.Phe182Ala | Missense | 2/2 | - |
| 16-89986028-A-C | MC1R | c.362A>C | p.Asp121Ala | Missense | 1/1 | - |
| 16-89986507-AA-GC | MC1R | c.841_842delAAinsGC | p.Asn281Ala | Missense | 1/1 | - |
| 16-89986189-TT-GC | MC1R | c.523_524delTTinsGC | p.Phe175Ala | Missense | 1/1 | - |
| 16-89985947-A-C | MC1R | c.281A>C | p.Glu94Ala | Missense | 1/1 | - |
| 16-89986210-TA-GC | MC1R | c.544_545delTAinsGC | p.Tyr182Ala | Missense | 1/1 | - |
| 16-89986027-GA-CT | MC1R | c.361_362delGAinsCT | p.Asp121Leu | Missense | 1/1 | - |
| 16-89986027-GAC-AAG | MC1R | c.361_363delGACinsAAG | p.Asp121Lys | Missense | 1/1 | - |
| 16-89985946-G-A | MC1R | c.280G>A | p.Glu94Lys | Missense | 1/1 | - |
| 16-89986249-TT-GC | MC1R | c.583_584delTTinsGC | p.Phe195Ala | Missense | 1/1 | - |
| 16-89986016-A-C | MC1R | c.350A>C | p.Asp117Ala | Missense | 1/1 | - |