| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 3-52777422-CTTC-C | NEK4 | c.1953_1955delAGA | p.Glu651delGlu | InFrameDeletion | 12/16 | - |
| 17-59763520-G-C | BRIP1 | c.2582C>G | p.Ser861Cys | Missense | 19/20 | - |
| 8-73958245-A-G | TERF1 | c.1193A>G | p.Tyr398Cys | Missense | 10/10 | - |
| 1-211842488-G-A | NEK2 | c.952C>T | p.Arg318* | Nonsense | 6/8 | - |
| 16-69419819-T-C | TERF2 | c.56A>G | p.Asp19Gly | Missense | 1/10 | - |
| 3-130748679-G-C | NEK11 | c.127G>C | p.Val43Leu | Missense | 3/18 | - |
| 1-211847815-T-C | NEK2 | c.137A>G | p.Glu46Gly | Missense | 2/8 | - |
| 2-128047825-C-T | ERCC3 | c.496G>A | p.Val166Ile | Missense | 4/15 | - |
| 1-226552705-C-T | PARP1 | c.2656G>A | p.Val886Met | Missense | 19/23 | - |
| 15-28228529-T-C | OCA2 | c.1465A>G | p.Asn489Asp | Missense | 14/24 | - |
| 12-133253180-A-T | POLE | c.861T>A | p.Asp287Glu | Missense | 9/49 | - |
| 16-89986091-G-A | MC1R | c.425G>A | p.Arg142His | Missense | 1/1 | - |
| 16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
| 14-24709952-G-T | TINF2 | c.734C>A | p.Ser245Tyr | Missense | 6/9 | - |
| 15-28230313-G-A | OCA2 | c.1261C>T | p.Arg421Trp | Missense | 13/24 | - |
| 6-43572357-G-A | POLH | c.890G>A | p.Trp297* | Nonsense | 8/11 | - |
| 17-36868202-C-T | MLLT6 | c.655C>T | p.Arg219Trp | Missense | 7/20 | - |
| 9-85605345-T-C | RASEF | c.2078A>G | p.Asp693Gly | Missense | 16/17 | - |
| 2-128030492-A-C | ERCC3 | c.1776T>G | p.Ile592Met | Missense | 11/15 | - |
| 14-24711501-C-A | TINF2 | c.38G>T | p.Arg13Leu | Missense | 1/9 | - |
| 17-59885852-G-T | BRIP1 | c.894C>A | p.Cys298* | Nonsense | 7/20 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 9-85620394-CAT-C | RASEF | c.1049_1050delAT | p.His350Argfs*3 | Frameshift | 8/17 | - |
| 2-128046416-G-A | ERCC3 | c.847C>T | p.Arg283Cys | Missense | 7/15 | - |
| 9-85677626-G-A | RASEF | c.157C>T | p.Arg53Trp | Missense | 1/17 | - |
| 3-105464836-T-A | CBLB | c.770A>T | p.His257Leu | Missense | 6/19 | - |
| 17-36878443-G-A | MLLT6 | c.2755G>A | p.Gly919Arg | Missense | 17/20 | - |
| 16-89986546-G-C | MC1R | c.880G>C | p.Asp294His | Missense | 1/1 | - |
| 2-128016978-G-A | ERCC3 | c.2111C>T | p.Ser704Leu | Missense | 14/15 | - |
| 3-52443569-C-A | BAP1 | c.122+1G>T | - | IntronicSNV | - | 3/16 |
| 15-28263554-G-A | OCA2 | c.796C>T | p.Arg266Trp | Missense | 7/24 | - |
| 2-128038129-T-TT | ERCC3 | c.1421_1421dupA | p.Asp474Glufs*2 | Frameshift | 9/15 | - |
| 17-36876664-A-C | MLLT6 | c.2195A>C | p.Glu732Ala | Missense | 15/20 | - |
| 3-52800252-A-G | NEK4 | c.500T>C | p.Ile167Thr | Missense | 3/16 | - |
| 17-59876603-C-A | BRIP1 | c.1198G>T | p.Asp400Tyr | Missense | 9/20 | - |
| 15-28228553-C-T | OCA2 | c.1441G>A | p.Ala481Thr | Missense | 14/24 | - |
| 17-59763509-G-A | BRIP1 | c.2593C>T | p.Arg865Trp | Missense | 19/20 | - |
| 15-28171315-C-G | OCA2 | c.2037G>C | p.Trp679Cys | Missense | 19/24 | - |
| 9-21971122-GGTGAGAGTGGCGGGGTCGG-G | CDKN2A | c.225_243del19 | p.Ala76Cysfs*64 | Frameshift | 2/3 | - |
| 16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
| 17-59853790-C-T | BRIP1 | c.2069G>A | p.Gly690Glu | Missense | 14/20 | - |
| 12-133250290-C-T | POLE | c.1230G>A | p.Trp410* | Nonsense | 13/49 | - |
| 15-28230319-G-A | OCA2 | c.1255C>T | p.Arg419Trp | Missense | 13/24 | - |
| 15-28230247-C-T | OCA2 | c.1327G>A | p.Val443Ile | Missense | 13/24 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 17-59924572-G-A | BRIP1 | c.517C>T | p.Arg173Cys | Missense | 6/20 | - |
| 17-59885956-G-A | BRIP1 | c.790C>T | p.Arg264Trp | Missense | 7/20 | - |
| 16-89986117-C-T | MC1R | c.451C>T | p.Arg151Cys | Missense | 1/1 | - |
| 9-85597608-T-A | RASEF | c.2207A>T | p.Asn736Ile | Missense | 17/17 | - |
| 16-69390938-C-T | TERF2 | c.1492G>A | p.Glu498Lys | Missense | 10/10 | - |
| 3-52775426-C-G | NEK4 | c.2093+1G>C | - | IntronicSNV | - | 13/15 |
| 16-89986144-C-T | MC1R | c.478C>T | p.Arg160Trp | Missense | 1/1 | - |
| 1-226564936-G-A | PARP1 | c.1814C>T | p.Pro605Leu | Missense | 13/23 | - |
| 6-43565568-G-T | POLH | c.626G>T | p.Gly209Val | Missense | 5/11 | - |
| 3-105438896-G-C | CBLB | c.1402C>G | p.Arg468Gly | Missense | 10/19 | - |
| 16-75682178-G-A | TERF2IP | c.398G>A | p.Arg133Gln | Missense | 1/3 | - |
| 3-52436842-A-AAA | BAP1 | c.1936_1937insTT | p.Tyr646Phefs*10 | Frameshift | 15/17 | - |
| 15-28326863-CC-C | OCA2 | c.163delG | p.Ala55Leufs*47 | Frameshift | 2/24 | - |
| 15-28211880-T-C | OCA2 | c.1592A>G | p.Tyr531Cys | Missense | 15/24 | - |
| 16-89986130-T-C | MC1R | c.464T>C | p.Ile155Thr | Missense | 1/1 | - |
| 12-133253148-T-C | POLE | c.893A>G | p.Tyr298Cys | Missense | 9/49 | - |
| 16-69404432-C-T | TERF2 | c.794G>A | p.Arg265His | Missense | 5/10 | - |