| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-206890138-A-G | MAPKAPK2 | c.280-11917A>G | - | IntronicSNV | - | 1/9 |
| 20-6759115-A-G | BMP2 | c.570A>G | p.Arg190Arg | Synonymous | 3/3 | - |
| 8-141551407-G-A | AGO2 | c.1890C>T | p.Arg630Arg | Synonymous | 15/19 | - |
| 8-141541888-C-T | AGO2 | c.*255G>A | - | 3-UTRSNV | 19/19 | - |
| 8-141554959-A-G | AGO2 | c.1749-557T>C | - | IntronicSNV | - | 13/18 |
| 5-31416248-A-G | DROSHA | c.3525+5131T>C | - | IntronicSNV | - | 29/34 |
| 8-141622537-C-T | AGO2 | c.22+23047G>A | - | IntronicSNV | - | 1/18 |
| 3-119542190-G-A | GSK3B | c.*3445C>T | - | 3-UTRSNV | 11/11 | - |
| 3-119542190-G-C | GSK3B | c.*3445C>G | - | 3-UTRSNV | 11/11 | - |
| 22-40368229-T-C | GRAP2 | c.*1141T>C | - | IntergenicSNV | 8/8 | - |
| 2-179301884-A-G | PRKRA | c.610-838T>C | - | IntronicSNV | - | 6/7 |
| 10-91065949-A-T | IFIT2 | c.236A>T | p.Glu79Val | Missense | 2/2 | - |
| 10-91065949-A-C | IFIT2 | c.236A>C | p.Glu79Ala | Missense | 2/2 | - |
| 10-91065949-A-G | IFIT2 | c.236A>G | p.Glu79Gly | Missense | 2/2 | - |
| 5-31511106-G-A | DROSHA | c.1432+36C>T | - | IntronicSNV | - | 8/34 |
| 5-31439859-G-A | DROSHA | c.2883-2454C>T | - | IntronicSNV | - | 22/34 |
| 5-31439859-G-C | DROSHA | c.2883-2454C>G | - | IntronicSNV | - | 22/34 |
| 4-81967150-G-A | BMP3 | c.575G>A | p.Arg192Gln | Missense | 2/3 | - |
| 5-31401447-A-T | DROSHA | c.*92T>A | - | 3-UTRSNV | 35/35 | - |
| 5-31401447-A-G | DROSHA | c.*92T>C | - | 3-UTRSNV | 35/35 | - |
| 4-24578097-C-A | DHX15 | c.276G>T | p.Thr92Thr | Synonymous | 2/14 | - |
| 22-22136398-T-G | MAPK1 | c.856+6148A>C | - | IntronicSNV | - | 6/8 |
| 6-43490947-T-G | XPO5 | c.*659A>C | - | 3-UTRSNV | 32/32 | - |
| 17-643426-G-A | FAM57A | c.409-319G>A | - | IntronicSNV | - | 3/4 |
| 11-108747224-A-T | DDX10 | c.2304+24288A>T | - | IntronicSNV | - | 16/17 |
| 11-108747224-A-G | DDX10 | c.2304+24288A>G | - | IntronicSNV | - | 16/17 |
| 18-48586344-C-T | SMAD4 | c.955+58C>T | - | IntronicSNV | - | 8/11 |
| 5-31491121-G-A | DROSHA | c.1842+2193C>T | - | IntronicSNV | - | 12/34 |
| 22-20079603-A-G | DGCR8 | c.1606+110A>G | - | IntronicSNV | - | 7/12 |
| 6-43496662-A-C | XPO5 | c.2679T>G | p.Arg893Arg | Synonymous | 24/32 | - |
| 22-20099406-G-C | TRMT2A | c.*680C>G | - | 3-UTRSNV | 12/12 | - |
| 19-41858876-C-G | TGFB1 | c.74G>C | p.Arg25Pro | Missense | 1/7 | - |
| 22-20081852-T-C | DGCR8 | c.1607-384T>C | - | IntronicSNV | - | 7/12 |
| 20-6759115-A-T | BMP2 | c.570A>T | p.Arg190Ser | Missense | 3/3 | - |
| 14-95554142-T-C | DICER1 | c.*2693A>G | - | 3-UTRSNV | 29/29 | - |
| 5-31428613-G-T | DROSHA | c.3216+969C>A | - | IntronicSNV | - | 26/34 |
| 14-95603219-A-C | DICER1 | c.1-3424T>G | - | IntronicSNV | - | 1/28 |
| 6-35549670-C-T | FKBP5 | c.841-1672G>A | - | IntronicSNV | - | 9/11 |
| 12-53893031-C-T | MAP3K12 | c.-38+180G>A | - | intron_variant | - | 1/14 |
| 19-41847860-G-A | TGFB1 | c.788C>T | p.Thr263Ile | Missense | 5/7 | - |
| 4-24578097-C-T | DHX15 | c.276G>A | p.Thr92Thr | Synonymous | 2/14 | - |
| 22-22136398-T-C | MAPK1 | c.856+6148A>G | - | IntronicSNV | - | 6/8 |
| 5-31487782-A-C | DROSHA | c.1843-1113T>G | - | IntronicSNV | - | 12/34 |
| 17-649232-C-T | GEMIN4 | c.2051G>A | p.Arg684Gln | Missense | 2/2 | - |
| 1-154561925-C-A | ADAR | c.2682G>T | p.Val894Val | Synonymous | 9/15 | - |
| 1-26746327-A-G | LIN28A | c.229-5467A>G | - | IntronicSNV | - | 2/3 |
| 5-31520778-C-T | DROSHA | c.947+452G>A | - | IntronicSNV | - | 5/34 |
| 1-206902471-G-A | MAPKAPK2 | c.484+27G>A | - | IntronicSNV | - | 3/9 |
| 20-6750882-T-G | BMP2 | c.109T>G | p.Ser37Ala | Missense | 2/3 | - |
| 20-6750882-T-C | BMP2 | c.109T>C | p.Ser37Pro | Missense | 2/3 | - |
| 22-40452119-T-C | TNRC6B | c.-121+11117T>C | - | intron_variant | - | 1/23 |
| 8-141539854-T-G | AGO2 | c.*2289A>C | - | IntergenicSNV | 19/19 | - |
| 8-141572167-C-A | AGO2 | c.518+385G>T | - | IntronicSNV | - | 4/18 |
| 8-141572167-C-T | AGO2 | c.518+385G>A | - | IntronicSNV | - | 4/18 |
| 6-30628082-A-G | DHX16 | c.1545-63T>C | - | IntronicSNV | - | 9/19 |
| 19-41860587-C-T | B9D2 | c.*18G>A | - | 3-UTRSNV | 4/4 | - |
| 6-7881449-G-A | BMP6 | c.*873G>A | - | 3-UTRSNV | 7/7 | - |
| 1-26746807-G-A | LIN28A | c.229-4987G>A | - | IntronicSNV | - | 2/3 |
| 8-141555862-A-C | AGO2 | c.1749-1460T>G | - | IntronicSNV | - | 13/18 |
| 5-31401953-C-T | DROSHA | c.3995-284G>A | - | IntronicSNV | - | 34/34 |
| 22-22204793-G-A | MAPK1 | c.119+16819C>T | - | IntronicSNV | - | 1/8 |
| 5-31401953-C-G | DROSHA | c.3995-284G>C | - | IntronicSNV | - | 34/34 |
| 22-20082074-C-T | DGCR8 | c.1607-162C>T | - | IntronicSNV | - | 7/12 |
| 5-31525788-C-T | DROSHA | c.854+398G>A | - | IntronicSNV | - | 4/34 |
| 8-141572309-G-A | AGO2 | c.518+243C>T | - | IntronicSNV | - | 4/18 |
| X-147031538-C-T | FMR1 | c.*1174C>T | - | 3-UTRSNV | 17/17 | - |
| X-147031538-C-G | FMR1 | c.*1174C>G | - | 3-UTRSNV | 17/17 | - |
| 1-26753942-T-C | LIN28A | c.*993T>C | - | 3-UTRSNV | 4/4 | - |
| 5-31428613-G-A | DROSHA | c.3216+969C>T | - | IntronicSNV | - | 26/34 |
| 6-43490809-C-T | XPO5 | c.*797G>A | - | 3-UTRSNV | 32/32 | - |
| 5-31412462-A-C | DROSHA | c.3526-1468T>G | - | IntronicSNV | - | 29/34 |
| 5-31459743-T-C | DROSHA | c.2574+4600A>G | - | IntronicSNV | - | 19/34 |
| 14-54417522-A-G | BMP4 | c.455T>C | p.Val152Ala | Missense | 4/4 | - |
| 5-31465137-G-A | DROSHA | c.2467-687C>T | - | IntronicSNV | - | 18/34 |
| 5-31483596-G-T | DROSHA | c.2071+65C>A | - | IntronicSNV | - | 15/34 |
| 8-141668860-A-T | PTK2 | c.*705T>A | - | 3-UTRSNV | 32/32 | - |
| 5-31509542-A-G | DROSHA | c.1433-660T>C | - | IntronicSNV | - | 8/34 |
| 6-31929014-A-C | SKIV2L | c.640A>C | p.Met214Leu | Missense | 8/28 | - |
| 6-36076934-G-A | MAPK14 | c.*710G>A | - | 3-UTRSNV | 12/12 | - |
| 5-31428028-C-T | DROSHA | c.3216+1554G>A | - | IntronicSNV | - | 26/34 |
| 22-22115886-C-T | MAPK1 | c.*2653G>A | - | 3_prime_UTR_variant | 9/9 | - |
| 14-95606794-T-C | DICER1 | c.1-6999A>G | - | IntronicSNV | - | 1/28 |
| 17-1325297-A-G | CRK | c.*1510T>C | - | 3-UTRSNV | 3/3 | - |
| 22-22131125-T-G | MAPK1 | c.857-3854A>C | - | IntronicSNV | - | 6/8 |
| 10-91066075-A-G | IFIT2 | c.362A>G | p.Lys121Arg | Missense | 2/2 | - |
| 1-154556040-T-G | ADAR | c.*1242A>C | - | 3-UTRSNV | 15/15 | - |
| 2-135750849-T-C | MAP3K19 | c.575-1699A>G | - | IntronicSNV | - | 5/9 |
| 12-31226835-T-A | DDX11 | c.-195T>A | - | 5_prime_UTR_variant | 1/27 | - |
| 8-141561357-C-T | AGO2 | c.1403+45G>A | - | IntronicSNV | - | 11/18 |
| 14-95553362-A-G | DICER1 | c.*3473T>C | - | 3-UTRSNV | 29/29 | - |
| 14-54416602-T-A | BMP4 | c.*148A>T | - | 3-UTRSNV | 4/4 | - |
| 2-179314359-G-A | PRKRA | c.235+610C>T | - | IntronicSNV | - | 2/7 |
| 22-40454069-T-C | TNRC6B | c.-121+13067T>C | - | intron_variant | - | 1/23 |
| 22-40454069-T-G | TNRC6B | c.-121+13067T>G | - | intron_variant | - | 1/23 |
| 2-179314359-G-C | PRKRA | c.235+610C>G | - | IntronicSNV | - | 2/7 |
| 16-24578458-T-A | RBBP6 | c.1590-6T>A | - | IntronicSNV | - | 14/17 |
| 22-20071737-T-C | DGCR8 | c.1-1750T>C | - | IntronicSNV | - | 1/12 |
| 16-24578458-T-C | RBBP6 | c.1590-6T>C | - | IntronicSNV | - | 14/17 |
| 3-119542297-A-G | GSK3B | c.*3338T>C | - | 3-UTRSNV | 11/11 | - |
| 22-20100596-T-C | TRMT2A | c.1549+45A>G | - | IntronicSNV | - | 10/11 |
| 22-20100596-T-A | TRMT2A | c.1549+45A>T | - | IntronicSNV | - | 10/11 |
| 8-141568304-A-G | AGO2 | c.878+280T>C | - | IntronicSNV | - | 7/18 |
| 8-141595023-G-A | AGO2 | c.215+195C>T | - | IntronicSNV | - | 2/18 |
| 22-40368608-G-A | GRAP2 | c.*1520G>A | - | IntergenicSNV | 8/8 | - |
| 1-26744087-T-C | LIN28A | c.228+6014T>C | - | IntronicSNV | - | 2/3 |
| 8-141582896-T-C | AGO2 | c.336+15A>G | - | IntronicSNV | - | 3/18 |
| 20-33355046-G-A | NCOA6 | c.514+1221C>T | - | IntronicSNV | - | 5/14 |
| 1-26744087-T-A | LIN28A | c.228+6014T>A | - | IntronicSNV | - | 2/3 |
| 6-35542476-C-A | FKBP5 | c.*1136G>T | - | 3-UTRSNV | 12/12 | - |
| 14-95575414-A-T | DICER1 | c.2257-574T>A | - | IntronicSNV | - | 16/28 |
| 8-141541881-C-T | AGO2 | c.*262G>A | - | 3-UTRSNV | 19/19 | - |
| 14-95575414-A-G | DICER1 | c.2257-574T>C | - | IntronicSNV | - | 16/28 |
| 1-154556425-G-A | ADAR | c.*857C>T | - | 3-UTRSNV | 15/15 | - |
| 2-179314359-G-T | PRKRA | c.235+610C>A | - | IntronicSNV | - | 2/7 |
| 5-31437040-C-T | DROSHA | c.2942+306G>A | - | IntronicSNV | - | 23/34 |
| 1-112309123-C-T | DDX20 | c.2077C>T | p.Arg693Cys | Missense | 11/11 | - |
| 19-41858876-C-T | TGFB1 | c.74G>A | p.Arg25Gln | Missense | 1/7 | - |
| 12-31244846-C-G | DDX11 | c.1242+41C>G | - | IntronicSNV | - | 10/26 |
| 6-43540926-G-A | XPO5 | c.227+291C>T | - | IntronicSNV | - | 2/31 |
| 12-31244846-C-T | DDX11 | c.1242+41C>T | - | IntronicSNV | - | 10/26 |
| 22-22180183-C-T | MAPK1 | c.120-18048G>A | - | IntronicSNV | - | 1/8 |
| 6-105406274-A-C | LIN28B | c.198+113A>C | - | IntronicSNV | - | 2/3 |
| 14-95581961-G-A | DICER1 | c.1907+43C>T | - | IntronicSNV | - | 13/28 |
| 5-31423007-T-C | DROSHA | c.3306A>G | p.Pro1102Pro | Synonymous | 28/35 | - |
| 12-31245741-A-G | DDX11 | c.1243-39A>G | - | IntronicSNV | - | 10/26 |
| 8-141557880-G-A | AGO2 | c.1589-154C>T | - | IntronicSNV | - | 12/18 |
| 6-43492578-G-A | XPO5 | c.3303C>T | p.Tyr1101Tyr | Synonymous | 30/32 | - |
| 5-31467952-A-G | DROSHA | c.2366+94T>C | - | IntronicSNV | - | 17/34 |
| 20-33411871-A-G | NCOA6 | c.-164+1404T>C | - | intron_variant | - | 1/14 |
| 6-30628082-A-T | DHX16 | c.1545-63T>A | - | IntronicSNV | - | 9/19 |
| 12-31257464-G-A | DDX11 | c.*694G>A | - | 3-UTRSNV | 27/27 | - |
| 22-20087539-A-G | DGCR8 | c.1689+5221A>G | - | IntronicSNV | - | 8/12 |
| 17-648498-C-T | GEMIN4 | c.2785G>A | p.Asp929Asn | Missense | 2/2 | - |
| 17-648498-C-G | GEMIN4 | c.2785G>C | p.Asp929His | Missense | 2/2 | - |
| 16-24577520-T-G | RBBP6 | c.1590-944T>G | - | IntronicSNV | - | 14/17 |
| 8-141625045-G-A | AGO2 | c.22+20539C>T | - | IntronicSNV | - | 1/18 |
| 3-119542124-A-T | GSK3B | c.*3511T>A | - | 3-UTRSNV | 11/11 | - |
| 8-141569310-C-A | AGO2 | c.790+184G>T | - | IntronicSNV | - | 6/18 |
| 22-22129215-A-G | MAPK1 | c.857-1944T>C | - | IntronicSNV | - | 6/8 |
| 12-2060580-A-G | DCP1B | c.1524+1002T>C | - | IntronicSNV | - | 7/8 |
| 6-7881931-T-C | BMP6 | c.*1355T>C | - | 3-UTRSNV | 7/7 | - |
| 17-648157-G-A | GEMIN4 | c.3126C>T | p.Ile1042Ile | Synonymous | 2/2 | - |
| 5-31492388-A-T | DROSHA | c.1842+926T>A | - | IntronicSNV | - | 12/34 |
| 1-36488199-T-G | AGO3 | c.1407-4516T>G | - | IntronicSNV | - | 11/18 |
| 5-31492388-A-G | DROSHA | c.1842+926T>C | - | IntronicSNV | - | 12/34 |
| 5-31443564-G-A | DROSHA | c.2882+5090C>T | - | IntronicSNV | - | 22/34 |
| 20-33333208-C-A | NCOA6 | c.2914+1403G>T | - | IntronicSNV | - | 10/14 |
| 2-135777504-A-G | MAP3K19 | c.138+1781T>C | - | IntronicSNV | - | 2/9 |
| 14-95563712-T-C | DICER1 | c.4207-662A>G | - | IntronicSNV | - | 24/28 |
| 8-141601542-T-C | AGO2 | c.23-6132A>G | - | IntronicSNV | - | 1/18 |
| 1-112298582-A-G | DDX20 | c.36A>G | p.Ala12Ala | Synonymous | 1/11 | - |
| 1-36276399-C-T | AGO4 | c.19+2363C>T | - | IntronicSNV | - | 1/17 |
| 5-31511106-G-T | DROSHA | c.1432+36C>A | - | IntronicSNV | - | 8/34 |
| 6-43526737-A-G | XPO5 | c.1222-409T>C | - | IntronicSNV | - | 11/31 |
| 22-20098544-G-A | DGCR8 | c.*913G>A | - | 3-UTRSNV | 13/13 | - |
| 5-31435627-A-C | DROSHA | c.3042+245T>G | - | IntronicSNV | - | 24/34 |
| 5-31531619-A-G | DROSHA | c.-174+478T>C | - | intron_variant | - | 1/34 |
| 8-141549291-A-G | AGO2 | c.2169+128T>C | - | IntronicSNV | - | 16/18 |
| 6-7881311-A-G | BMP6 | c.*735A>G | - | 3-UTRSNV | 7/7 | - |
| 6-31936679-C-T | SKIV2L | c.3212C>T | p.Ala1071Val | Missense | 26/28 | - |
| 20-6759980-A-T | BMP2 | c.*244A>T | - | 3-UTRSNV | 3/3 | - |
| 16-24577766-T-G | RBBP6 | c.1590-698T>G | - | IntronicSNV | - | 14/17 |
| 6-31928306-A-G | SKIV2L | c.452A>G | p.Gln151Arg | Missense | 5/28 | - |
| 20-6759980-A-C | BMP2 | c.*244A>C | - | 3-UTRSNV | 3/3 | - |
| 5-31471676-G-A | DROSHA | c.2241+494C>T | - | IntronicSNV | - | 16/34 |
| 22-20071630-G-A | DGCR8 | c.1-1857G>A | - | IntronicSNV | - | 1/12 |
| 5-31483596-G-A | DROSHA | c.2071+65C>T | - | IntronicSNV | - | 15/34 |
| 5-31444434-A-G | DROSHA | c.2882+4220T>C | - | IntronicSNV | - | 22/34 |
| 17-649067-A-G | GEMIN4 | c.2216T>C | p.Ile739Thr | Missense | 2/2 | - |
| 17-648186-G-C | GEMIN4 | c.3097C>G | p.Arg1033Gly | Missense | 2/2 | - |
| 17-648157-G-C | GEMIN4 | c.3126C>G | p.Ile1042Met | Missense | 2/2 | - |
| 1-26753942-T-A | LIN28A | c.*993T>A | - | 3-UTRSNV | 4/4 | - |
| 17-648186-G-A | GEMIN4 | c.3097C>T | p.Arg1033Cys | Missense | 2/2 | - |
| 6-36078180-C-T | MAPK14 | c.*1956C>T | - | 3-UTRSNV | 12/12 | - |
| 14-95619101-C-T | DICER1 | c.-213+5167G>A | - | intron_variant | - | 1/28 |
| 14-95586136-T-C | DICER1 | c.1377-2045A>G | - | IntronicSNV | - | 10/28 |
| 12-2057592-A-G | DCP1B | c.1773+660T>C | - | IntronicSNV | - | 8/8 |
| 5-31433647-C-T | DROSHA | c.3043-1862G>A | - | IntronicSNV | - | 24/34 |
| 1-36444957-C-T | AGO3 | c.658+5845C>T | - | IntronicSNV | - | 5/18 |
| 19-41858921-G-A | TGFB1 | c.29C>T | p.Pro10Leu | Missense | 1/7 | - |
| 1-26802548-T-C | HMGN2 | c.*909T>C | - | 3-UTRSNV | 6/6 | - |
| 19-41858921-G-C | TGFB1 | c.29C>G | p.Pro10Arg | Missense | 1/7 | - |
| 1-154573967-T-C | ADAR | c.1151A>G | p.Lys384Arg | Missense | 2/15 | - |
| 1-112309123-C-A | DDX20 | c.2077C>A | p.Arg693Ser | Missense | 11/11 | - |
| 14-95594207-T-C | DICER1 | c.735-1122A>G | - | IntronicSNV | - | 8/28 |
| 17-649935-G-C | GEMIN4 | c.1348C>G | p.Gln450Glu | Missense | 2/2 | - |
| 5-31444434-A-C | DROSHA | c.2882+4220T>G | - | IntronicSNV | - | 22/34 |
| 22-20074575-C-T | DGCR8 | c.721-110C>T | - | IntronicSNV | - | 2/12 |
| 8-141594881-T-C | AGO2 | c.215+337A>G | - | IntronicSNV | - | 2/18 |
| 1-154561925-C-T | ADAR | c.2682G>A | p.Val894Val | Synonymous | 9/15 | - |
| 8-141573358-G-A | AGO2 | c.337-625C>T | - | IntronicSNV | - | 3/18 |
| 22-22115004-C-G | MAPK1 | c.*3535G>C | - | 3_prime_UTR_variant | 9/9 | - |
| 8-141634540-A-G | AGO2 | c.22+11044T>C | - | IntronicSNV | - | 1/18 |
| 1-112302219-G-A | DDX20 | c.565+29G>A | - | IntronicSNV | - | 3/10 |
| 1-112302219-G-C | DDX20 | c.565+29G>C | - | IntronicSNV | - | 3/10 |
| 1-36424985-A-G | AGO3 | c.192-7571A>G | - | IntronicSNV | - | 2/18 |
| 1-206896622-C-G | MAPKAPK2 | c.280-5433C>G | - | IntronicSNV | - | 1/9 |
| 5-31528733-C-T | DROSHA | c.20+414G>A | - | IntronicSNV | - | 3/34 |
| 1-154556266-G-A | ADAR | c.*1016C>T | - | 3-UTRSNV | 15/15 | - |
| 22-20098521-G-A | DGCR8 | c.*890G>A | - | 3-UTRSNV | 13/13 | - |
| 20-6760201-T-C | BMP2 | c.*465T>C | - | 3-UTRSNV | 3/3 | - |
| 6-7882205-G-A | TXNDC5 | c.*1172C>T | - | 3-UTRSNV | 10/10 | - |
| 5-31485230-T-A | DROSHA | c.1915-161A>T | - | IntronicSNV | - | 13/34 |
| 5-31485230-T-C | DROSHA | c.1915-161A>G | - | IntronicSNV | - | 13/34 |
| 1-26756209-G-A | LIN28A | c.*3260G>A | - | 3-UTRSNV | 4/4 | - |
| 16-30130493-C-A | MAPK3 | c.354-634G>T | - | IntronicSNV | - | 2/6 |
| 14-95556747-A-T | DICER1 | c.*88T>A | - | 3-UTRSNV | 29/29 | - |
| 5-31533691-G-A | C5orf22 | c.82-688G>A | - | IntronicSNV | - | 1/8 |
| 8-141584017-C-T | AGO2 | c.216-986G>A | - | IntronicSNV | - | 2/18 |
| 1-154564712-T-A | ADAR | c.2271-1827A>T | - | IntronicSNV | - | 6/14 |
| 8-141577522-C-T | AGO2 | c.337-4789G>A | - | IntronicSNV | - | 3/18 |
| 8-141644176-A-G | AGO2 | c.22+1408T>C | - | IntronicSNV | - | 1/18 |
| 1-26756209-G-T | LIN28A | c.*3260G>T | - | 3-UTRSNV | 4/4 | - |
| 1-112308953-T-C | DDX20 | c.1907T>C | p.Ile636Thr | Missense | 11/11 | - |
| 11-108709772-T-A | DDX10 | c.2085+480T>A | - | IntronicSNV | - | 14/17 |
| 12-131361241-C-T | RAN | c.*770C>T | - | IntergenicSNV | 7/7 | - |
| 12-53901105-G-A | NPFF | c.102+52C>T | - | IntronicSNV | - | 1/2 |
| 5-31424761-T-C | DROSHA | c.3217-183A>G | - | IntronicSNV | - | 26/34 |
| 17-653818-G-T | GEMIN4 | c.10+1555C>A | - | IntronicSNV | - | 1/1 |
| 17-649935-G-T | GEMIN4 | c.1348C>A | p.Gln450Lys | Missense | 2/2 | - |
| 1-206896622-C-A | MAPKAPK2 | c.280-5433C>A | - | IntronicSNV | - | 1/9 |
| 5-31541142-G-T | C5orf22 | c.870+24G>T | - | IntronicSNV | - | 5/8 |
| 17-62496670-A-C | DDX5 | c.1438T>G | p.Ser480Ala | Missense | 12/13 | - |
| 8-141559729-C-G | AGO2 | c.1404-332G>C | - | IntronicSNV | - | 11/18 |
| 1-154559598-T-C | ADAR | c.3020-759A>G | - | IntronicSNV | - | 11/14 |
| 8-141642392-G-A | AGO2 | c.22+3192C>T | - | IntronicSNV | - | 1/18 |
| 5-31518912-T-G | DROSHA | c.947+2318A>C | - | IntronicSNV | - | 5/34 |
| 8-141559729-C-T | AGO2 | c.1404-332G>A | - | IntronicSNV | - | 11/18 |
| 5-31446716-T-A | DROSHA | c.2882+1938A>T | - | IntronicSNV | - | 22/34 |
| 5-31446716-T-C | DROSHA | c.2882+1938A>G | - | IntronicSNV | - | 22/34 |