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Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
---|---|---|---|---|---|---|---|---|---|---|---|---|

View | X | 99661978 | 99661978 | G > A | PCDH19 PCDH19 PCDH19 |
NM_001105243.1:c.1618C>T NM_001184880.1:c.1618C>T NM_020766.2:c.1618C>T |
NP_001098713.1:p.Leu540Phe NP_001171809.1:p.Leu540Phe NP_065817.2:p.Leu540Phe |
3/10521 | 0.00019 | 4 | non_synonymous | Likely Benign |

View | X | 99919875 | 99919875 | C > G | SRPX2 |
NM_014467.2:c.460C>G |
NP_055282.1:p.His154Asp |
16/8685 | 0.00144 | 4 | non_synonymous | Likely Benign |

View | X | 99922289 | 99922289 | A > G | SRPX2 |
NM_014467.2:c.980A>G |
NP_055282.1:p.Asn327Ser |
10/8685 | 0.00086 | 4 | Likely Benign | |

View | X | 100615717 | 100615717 | C > A | BTK |
NM_000061.2:c.615G>T |
NP_000052.1:p.Glu205Asp |
36/10521 | 0.00238 | 4 | Likely Benign | |

View | X | 100653420 | 100653420 | C > A | GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 |
NM_000169.2:c.937G>T NM_001199973.1:c.408+2975C>A NM_001199974.1:c.285+6610C>A |
NP_000160.1:p.Asp313Tyr |
57/10521 | 0.00356 | 3 | Likely Benign | |

View | X | 101096548 | 101096548 | G > T | NXF5 NXF5 |
NM_032946.2:c.241-18C>A NR_028089.1:n.601-18C>A |
32/10482 | 0.00215 | 4 | three_prime_flank | Likely Benign | |

View | X | 103031893 | 103031893 | C > T | PLP1 PLP1 PLP1 |
NM_001128834.1:c.-31C>T NM_000533.3:c.-31C>T NM_199478.1:c.-31C>T |
32/10482 | 0.00205 | 4 | Likely Benign | ||

View | X | 107084632 | 107084632 | G > A | MID2 MID2 |
NM_012216.3:c.720+17G>A NM_052817.2:c.720+17G>A |
11/8646 | 0.00081 | 4 | five_prime_intronic | Likely Benign | |

View | X | 107159224 | 107159224 | T > - | MID2 MID2 |
NM_012216.3:c.1074-4del NM_052817.2:c.1074-4del |
18/8685 | 0.00132 | 4 | polypyrimidine_tract | Likely Benign | |

View | X | 107844691 | 107844691 | A > G | COL4A5 COL4A5 |
NM_000495.4:c.2017A>G NM_033380.2:c.2017A>G |
NP_000486.1:p.Arg673Gly NP_203699.1:p.Arg673Gly |
9/10521 | 0.00067 | 4 | Likely Benign | |

View | X | 107869481 | 107869481 | C > T | COL4A5 COL4A5 |
NM_000495.4:c.3148C>T NM_033380.2:c.3148C>T |
NP_000486.1:p.Pro1050Ser NP_203699.1:p.Pro1050Ser |
7/10521 | 0.00043 | 4 | non_synonymous | Likely Benign |

View | X | 108902572 | 108902572 | T > C | ACSL4 ACSL4 |
NM_022977.2:c.1978+11A>G NM_004458.2:c.1855+11A>G |
44/10482 | 0.00267 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | Likely Benign | |

View | X | 108908714 | 108908714 | T > C | ACSL4 ACSL4 |
NM_022977.2:c.1448A>G NM_004458.2:c.1325A>G |
NP_075266.1:p.Tyr483Cys NP_004449.1:p.Tyr442Cys |
10/10521 | 0.00071 | 4 | non_synonymous | Likely Benign |

View | X | 108921491 | 108921491 | T > C | ACSL4 ACSL4 |
NM_022977.2:c.929+3A>G NM_004458.2:c.806+3A>G |
34/10521 | 0.00209 | 4 | five_prime_flank | Likely Benign | |

View | X | 110987996 | 110987997 | - > CCT | ALG13 ALG13 ALG13 ALG13 ALG13 |
NM_001257231.1:c.2599_2601dupCCT NM_001257234.1:c.2383+7926_2383+7928dupCCT NM_001257237.1:c.2383+7926_2383+7928dupCCT NM_001099922.2:c.2833_2835dupCCT NM_001257230.1:c.2383+7926_2383+7928dupCCT |
NP_001244160.1:p.Pro867dup NP_001093392.1:p.Pro945dup |
110/8685 | 0.00748 | 4 | in_frame_indel | Likely Benign |

View | X | 122387282 | 122387282 | G > A | GRIA3 GRIA3 |
ENST00000371256.5:c.397G>A ENST00000264357.5:c.397G>A |
ENSP00000360302.5:p.Ala133Thr ENSP00000264357.5:p.Ala133Thr |
3/8685 | 0.00017 | 4 | non_synonymous | Likely Benign |

View | X | 122759746 | 122759746 | T > G | THOC2 |
NM_001081550.1:c.3057+17A>C |
4/8646 | 0.00029 | 4 | five_prime_intronic | Likely Benign | |

View | X | 122799704 | 122799707 | AAAT > - | THOC2 |
NM_001081550.1:c.1191-19_1191-16del |
21/8646 | 0.00179 | 4 | three_prime_flank | Likely Benign | |

View | X | 122805622 | 122805623 | - > A | THOC2 |
NM_001081550.1:c.769-11dupT |
45/8686 | 0.00305 | 4 | polypyrimidine_tract | Likely Benign | |

View | X | 122846681 | 122846681 | A > T | THOC2 |
NM_001081550.1:c.130+19T>A |
22/8646 | 0.00156 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | Likely Benign | |

View | X | 123034381 | 123034381 | A > G | XIAP XIAP XIAP |
NM_001167.3:c.1138A>G NR_037916.1:n.388A>G NM_001204401.1:c.1138A>G |
NP_001158.2:p.Ile380Val NP_001191330.1:p.Ile380Val |
2/10521 | 0.00014 | 4 | non_synonymous | Likely Benign |

View | X | 128674722 | 128674722 | C > T | OCRL OCRL |
NM_000276.3:c.41C>T NM_001587.3:c.41C>T |
NP_000267.2:p.Thr14Ile NP_001578.2:p.Thr14Ile |
91/10521 | 0.00575 | 4 | non_synonymous | Likely Benign |

View | X | 132826404 | 132826404 | C > T | GPC3 GPC3 GPC3 GPC3 |
NM_004484.3:c.1285G>A NM_001164618.1:c.1237G>A NM_001164619.1:c.1123G>A NM_001164617.1:c.1354G>A |
NP_004475.1:p.Val429Met NP_001158090.1:p.Val413Met NP_001158091.1:p.Val375Met NP_001158089.1:p.Val452Met |
91/10521 | 0.0057 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |

View | X | 132887546 | 132887546 | T > C | GPC3 GPC3 GPC3 GPC3 |
NM_004484.3:c.995A>G NM_001164618.1:c.947A>G NM_001164619.1:c.833A>G NM_001164617.1:c.995A>G |
NP_004475.1:p.Gln332Arg NP_001158090.1:p.Gln316Arg NP_001158091.1:p.Gln278Arg NP_001158089.1:p.Gln332Arg |
4/10521 | 0.00029 | 4 | non_synonymous | Likely Benign |

View | X | 132887715 | 132887715 | C > T | GPC3 GPC3 GPC3 GPC3 |
NM_004484.3:c.826G>A NM_001164618.1:c.778G>A NM_001164619.1:c.664G>A NM_001164617.1:c.826G>A |
NP_004475.1:p.Gly276Ser NP_001158090.1:p.Gly260Ser NP_001158091.1:p.Gly222Ser NP_001158089.1:p.Gly276Ser |
6/10521 | 0.00043 | 4 | non_synonymous | Likely Benign |

View | X | 135115628 | 135115628 | G > A | SLC9A6 SLC9A6 SLC9A6 |
NM_001177651.1:c.1547G>A NM_001042537.1:c.1703G>A NM_006359.2:c.1607G>A |
NP_001171122.1:p.Arg516Gln NP_001036002.1:p.Arg568Gln NP_006350.1:p.Arg536Gln |
34/10521 | 0.00214 | 4 | non_synonymous | Likely Benign |

View | X | 135772873 | 135772873 | C > T | ARHGEF6 |
NM_004840.2:c.1081G>A |
NP_004831.1:p.Ala361Thr |
1/10521 | 5.0e-05 | 4 | non_synonymous | Likely Benign |

View | X | 135790866 | 135790866 | C > A | ARHGEF6 |
NM_004840.2:c.891G>T |
NP_004831.1:p.Gln297His |
28/10521 | 0.00171 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |

View | X | 135827479 | 135827479 | C > T | ARHGEF6 |
NM_004840.2:c.362G>A |
NP_004831.1:p.Arg121His |
76/10521 | 0.00485 | 4 | non_synonymous | Likely Benign |

View | X | 135829660 | 135829660 | G > A | ARHGEF6 |
NM_004840.2:c.334+7C>T |
16/10521 | 0.001 | 4 | five_prime_intronic | Likely Benign | |

View | X | 135861667 | 135861667 | A > G | ARHGEF6 |
NM_004840.2:c.166-11T>C |
43/10482 | 0.00277 | 4 | Likely Benign | ||

View | X | 136112910 | 136112910 | C > T | GPR101 |
NM_054021.1:c.924G>A |
NP_473362.1:p.Glu308= |
16/8685 | 0.00121 | 4 | Likely Benign | |

View | X | 136113122 | 136113122 | C > T | GPR101 |
NM_054021.1:c.712G>A |
NP_473362.1:p.Val238Ile |
54/8685 | 0.00391 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |

View | X | 136649499 | 136649499 | C > G | ZIC3 |
NM_003413.3:c.649C>G |
NP_003404.1:p.Pro217Ala |
29/10521 | 0.002 | 4 | Likely Benign | |

View | X | 147733566 | 147733566 | C > T | AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169122.1:c.94C>T NM_001169124.1:c.94C>T NM_001169123.1:c.94C>T NM_001169125.1:c.94C>T NM_002025.3:c.94C>T |
NP_001162593.1:p.Arg32Trp NP_001162595.1:p.Arg32Trp NP_001162594.1:p.Arg32Trp NP_001162596.1:p.Arg32Trp NP_002016.2:p.Arg32Trp |
1/10521 | 0.0001 | 4 | non_synonymous | Likely Benign |

View | X | 147743744 | 147743744 | C > T | AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169122.1:c.484C>T NM_001169124.1:c.496C>T NM_001169123.1:c.484C>T NM_001169125.1:c.484C>T NM_002025.3:c.496C>T |
NP_001162593.1:p.Pro162Ser NP_001162595.1:p.Pro166Ser NP_001162594.1:p.Pro162Ser NP_001162596.1:p.Pro162Ser NP_002016.2:p.Pro166Ser |
34/10521 | 0.00181 | 4 | non_synonymous | Likely Benign |

View | X | 147800773 | 147800773 | G > C | AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169122.1:c.1029+56484G>C NM_001169124.1:c.1041+56484G>C NM_001169123.1:c.1029+56484G>C NM_001170628.1:c.51+18G>C NM_001169125.1:c.1029+56484G>C NM_002025.3:c.1041+56484G>C |
115/10482 | 0.00716 | 4 | five_prime_intronic | Likely Benign | |

View | X | 148037215 | 148037215 | G > A | AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169122.1:c.1541G>A NM_001169124.1:c.1535G>A NM_001169123.1:c.1610G>A NM_001170628.1:c.563G>A NM_001169125.1:c.1523G>A NM_002025.3:c.1640G>A |
NP_001162593.1:p.Gly514Asp NP_001162595.1:p.Gly512Asp NP_001162594.1:p.Gly537Asp NP_001164099.1:p.Gly188Asp NP_001162596.1:p.Gly508Asp NP_002016.2:p.Gly547Asp |
2/10521 | 0.0001 | 4 | Likely Benign | |

View | X | 148044334 | 148044334 | G > A | AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169122.1:c.2681G>A NM_001169124.1:c.2675G>A NM_001169123.1:c.2750G>A NM_001170628.1:c.1703G>A NM_001169125.1:c.2663G>A NM_002025.3:c.2780G>A |
NP_001162593.1:p.Arg894His NP_001162595.1:p.Arg892His NP_001162594.1:p.Arg917His NP_001164099.1:p.Arg568His NP_001162596.1:p.Arg888His NP_002016.2:p.Arg927His |
26/10521 | 0.00162 | 4 | Likely Benign | |

View | X | 148579705 | 148579705 | G > A | IDS IDS IDS |
NM_000202.5:c.641C>T NM_001166550.1:c.371C>T NM_006123.4:c.641C>T |
NP_000193.1:p.Thr214Met NP_001160022.1:p.Thr124Met NP_006114.1:p.Thr214Met |
66/10521 | 0.00423 | 4 | Likely Benign | |

View | X | 152014893 | 152014893 | A > G | NSDHL NSDHL |
NM_015922.2:c.25A>G NM_001129765.1:c.25A>G |
NP_057006.1:p.Met9Val NP_001123237.1:p.Met9Val |
45/8685 | 0.00357 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |

View | X | 152037646 | 152037646 | C > T | NSDHL NSDHL |
NM_015922.2:c.1108C>T NM_001129765.1:c.1108C>T |
NP_057006.1:p.Arg370Trp NP_001123237.1:p.Arg370Trp |
4/8685 | 0.00029 | 4 | non_synonymous | Likely Benign |

View | X | 152853901 | 152853901 | G > A | CCNQ |
ENST00000406277.2:c.663C>T |
ENSP00000384396.2:p.Asp221= |
5/8685 | 0.0004 | 4 | synonymous | Likely Benign |

View | X | 152959059 | 152959059 | G > A | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.1141+18G>A NM_001142805.1:c.1111+18G>A NM_001142806.1:c.796+18G>A |
57/10482 | 0.00382 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | Likely Benign | |

View | X | 152960155 | 152960155 | G > A | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.1597-19G>A NM_001142805.1:c.1567-19G>A NM_001142806.1:c.1252-19G>A |
10/10482 | 0.00052 | 4 | three_prime_flank | Likely Benign | |

View | X | 152960571 | 152960571 | T > A | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.1810T>A NM_001142805.1:c.1780T>A NM_001142806.1:c.1465T>A |
NP_005620.1:p.Leu604Met NP_001136277.1:p.Leu594Met NP_001136278.1:p.Leu489Met |
7/10521 | 0.00043 | 4 | non_synonymous | Likely Benign |

View | X | 152991478 | 152991478 | C > G | ABCD1 |
NM_000033.3:c.757C>G |
NP_000024.2:p.Leu253Val |
19/10521 | 0.00105 | 4 | Likely Benign | |

View | X | 153129490 | 153129491 | - > C | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.3308-19dupG NM_001278116.1:c.3323-19dupG NM_000425.4:c.3323-19dupG NM_024003.3:c.3323-19dupG |
12/10482 | 0.00076 | 4 | three_prime_flank | Likely Benign | |

View | X | 153171700 | 153171700 | G > A | AVPR2 AVPR2 AVPR2 |
NM_000054.4:c.740G>A NM_001146151.1:c.740G>A NR_027419.1:n.787G>A |
NP_000045.1:p.Arg247His NP_001139623.1:p.Arg247His |
7/8685 | 0.00063 | 4 | non_synonymous | Likely Benign |

View | X | 153218211 | 153218211 | C > T | HCFC1 |
NM_005334.2:c.4696G>A |
NP_005325.2:p.Val1566Met |
3/8685 | 0.00023 | 4 | non_synonymous | Likely Benign |