| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 3-161221705-A-C | OTOL1 | c.1409A>C | p.E470A | Missense | 4/4 | - |
| 17-58024324-A-G | RPS6KB1 | c.*175A>G | - | 3-UTRSNV | 15/15 | - |
| 19-1080681-G-A | ARHGAP45 | c.1913G>A | p.G638E | Missense | 16/23 | - |
| 5-56207123-T-A | SETD9 | c.226T>A | p.S76T | Missense | 2/6 | - |
| 17-42429500-C-T | GRN | c.1297C>T | p.R433W | Missense | 11/13 | - |
| 19-15289850-T-A | NOTCH3 | c.3704A>T | p.H1235L | Missense | 22/33 | - |
| 17-42427605-C-A | GRN | c.359C>A | p.S120Y | Missense | 5/13 | - |
| 19-45395619-A-G | TOMM40 | c.275-31A>G | - | IntronicSNV | - | 1/8 |
| 17-42426587-C-T | GRN | c.55C>T | p.R19W | Missense | 2/13 | - |
| 17-42428954-G-A | GRN | c.970G>A | p.A324T | Missense | 10/13 | - |
| 1-76397972-C-T | ASB17 | c.5G>A | p.S2N | Missense | 1/3 | - |
| 19-1074000-A-C | ARHGAP45 | c.777A>C | p.E259D | Missense | 6/23 | - |
| 19-1074000-A-T | ARHGAP45 | c.777A>T | p.E259D | Missense | 6/23 | - |
| 6-161067320-GA-CC | LPA | c.316_317delTCinsGG | p.S106G | Missense | 3/39 | - |
| 5-56207123-T-G | SETD9 | c.226T>G | p.S76A | Missense | 2/6 | - |
| 5-79616083-G-C | SPZ1 | c.49G>C | p.V17L | Missense | 1/1 | - |
| 5-79616936-A-C | SPZ1 | c.902A>C | p.H301P | Missense | 1/1 | - |
| 19-1079959-G-A | ARHGAP45 | c.1545G>A | p.M515I | Missense | 13/23 | - |
| 4-154415184-T-C | KIAA0922 | c.239+20144T>C | - | IntronicSNV | - | 3/34 |
| 1-76386305-A-G | ASB17 | c.681+1460T>C | - | IntronicSNV | - | 2/2 |
| 3-161221726-C-A | OTOL1 | c.1430C>A | p.P477Q | Missense | 4/4 | - |
| 1-76384668-C-A | ASB17 | c.857G>T | p.R286L | Missense | 3/3 | - |
| 1-76384668-C-G | ASB17 | c.857G>C | p.R286P | Missense | 3/3 | - |
| 1-76384668-C-T | ASB17 | c.857G>A | p.R286H | Missense | 3/3 | - |
| 19-1080377-G-A | ARHGAP45 | c.1827G>A | p.R609= | Synonymous | 14/23 | - |
| 5-79616698-G-A | SPZ1 | c.664G>A | p.E222K | Missense | 1/1 | - |
| 19-1080681-G-C | ARHGAP45 | c.1913G>C | p.G638A | Missense | 16/23 | - |
| 19-1085950-G-A | ARHGAP45 | c.3356G>A | p.R1119H | Missense | 23/23 | - |
| 19-1085950-G-T | ARHGAP45 | c.3356G>T | p.R1119L | Missense | 23/23 | - |
| 17-80684784-G-A | FN3KRP | c.667G>A | p.V223I | Missense | 6/6 | - |
| 5-79616936-A-G | SPZ1 | c.902A>G | p.H301R | Missense | 1/1 | - |
| 19-1085811-G-A | ARHGAP45 | c.3217G>A | p.G1073S | Missense | 23/23 | - |
| 19-1085811-G-T | ARHGAP45 | c.3217G>T | p.G1073C | Missense | 23/23 | - |
| 17-58022872-C-T | RPS6KB1 | c.1333C>T | p.P445S | Missense | 14/15 | - |
| 5-79616083-G-A | SPZ1 | c.49G>A | p.V17I | Missense | 1/1 | - |
| 3-161220819-C-A | OTOL1 | c.523C>A | p.P175T | Missense | 4/4 | - |
| 8-76476256-A-T | HNF4G | c.1293A>T | p.Q431= | Synonymous | 10/10 | - |
| 19-1085863-A-G | ARHGAP45 | c.3269A>G | p.E1090G | Missense | 23/23 | - |
| 20-17477592-C-T | BFSP1 | c.1033G>A | p.G345S | Missense | 7/8 | - |
| 20-17479609-A-G | BFSP1 | c.812T>C | p.I271T | Missense | 6/8 | - |
| 20-17475523-C-A | BFSP1 | c.1194G>T | p.K398N | Missense | 8/8 | - |
| 3-161214827-G-A | OTOL1 | c.232G>A | p.V78I | Missense | 1/4 | - |
| 20-17479685-T-C | BFSP1 | c.736A>G | p.T246A | Missense | 6/8 | - |
| 17-42428954-G-C | GRN | c.970G>C | p.A324P | Missense | 10/13 | - |
| 5-56207307-G-A | SETD9 | c.410G>A | p.G137D | Missense | 2/6 | - |
| 5-56207307-G-C | SETD9 | c.410G>C | p.G137A | Missense | 2/6 | - |
| 5-56207307-G-T | SETD9 | c.410G>T | p.G137V | Missense | 2/6 | - |
| 5-79616278-A-G | SPZ1 | c.244A>G | p.N82D | Missense | 1/1 | - |
| 16-2264249-C-A | PGP | c.530G>T | p.S177I | Missense | 1/2 | - |
| 16-2264249-C-T | PGP | c.530G>A | p.S177N | Missense | 1/2 | - |
| 3-161221705-A-T | OTOL1 | c.1409A>T | p.E470V | Missense | 4/4 | - |
| 17-80674717-G-A | FN3KRP | c.86G>A | p.R29Q | Missense | 1/6 | - |
| 17-80674717-G-T | FN3KRP | c.86G>T | p.R29L | Missense | 1/6 | - |
| 3-161220921-G-A | OTOL1 | c.625G>A | p.G209R | Missense | 4/4 | - |
| 19-45404058-C-T | TOMM40 | c.715C>T | p.R239W | Missense | 6/9 | - |
| 17-80684432-A-G | FN3KRP | c.545A>G | p.K182R | Missense | 5/6 | - |
| 20-17474942-G-A | BFSP1 | c.1775C>T | p.A592V | Missense | 8/8 | - |
| 20-17474942-G-C | BFSP1 | c.1775C>G | p.A592G | Missense | 8/8 | - |
| 5-79616573-C-A | SPZ1 | c.539C>A | p.A180D | Missense | 1/1 | - |
| 17-80676855-A-T | FN3KRP | c.215A>T | p.K72M | Missense | 2/6 | - |
| 16-2263836-C-G | PGP | c.859G>C | p.G287R | Missense | 2/2 | - |
| 16-2263836-C-T | PGP | c.859G>A | p.G287R | Missense | 2/2 | - |
| 16-2263822-A-C | PGP | c.873T>G | p.N291K | Missense | 2/2 | - |
| 20-17505513-T-C | BFSP1 | c.418A>G | p.M140V | Missense | 2/8 | - |
| 5-56209735-A-G | SETD9 | c.625A>G | p.K209E | Missense | 4/6 | - |
| 8-76452313-G-A | HNF4G | c.116G>A | p.S39N | missense_variant,splice_region_variant | 1/10 | - |
| 8-76471246-A-G | HNF4G | c.1097A>G | p.N366S | missense_variant | 8/10 | - |
| 8-76471246-A-T | HNF4G | c.1097A>T | p.N366I | missense_variant | 8/10 | - |
| 8-76470800-C-A | HNF4G | c.781C>A | p.R261S | missense_variant | 7/10 | - |
| 8-76470800-C-T | HNF4G | c.781C>T | p.R261C | missense_variant | 7/10 | - |
| 19-45410002-G-A | APOE | c.43+78G>A | - | IntronicSNV | - | 2/3 |
| 17-80685533-C-T | FN3KRP | c.*486C>T | - | 3-UTRSNV | 6/6 | - |
| 19-45395266-G-A | TOMM40 | c.274+320G>A | - | IntronicSNV | - | 1/8 |
| 19-1068738-G-A | ARHGAP45 | c.416G>A | p.R139H | Missense | 2/23 | - |
| 19-1068738-G-C | ARHGAP45 | c.416G>C | p.R139P | Missense | 2/23 | - |
| 19-45411110-T-C | APOE | c.137T>C | p.L46P | Missense | 3/4 | - |