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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 6 | 86246509 | 86246509 | C > G | SNX14 |
NM_153816.3:c.1608+1G>C NM_020468.3:c.1449+1G>C |
4/5119 | 0.00039 | 2 | donor_site | Likely pathogenic | |
| View | 6 | 99323430 | 99323447 | GCTGCTCTGCAGAGTTGG > - | FBXL4 |
NM_001278716.1:c.1546_1563del NM_012160.4:c.1546_1563del NR_103836.1:n.1591_1608del |
NP_001265645.1:p.Pro516_Ser521del NP_036292.2:p.Pro516_Ser521del |
2/5119 | 0.0002 | 1 | Likely pathogenic | |
| View | 6 | 99323549 | 99323549 | G > A | FBXL4 |
NM_001278716.1:c.1444C>T NM_012160.4:c.1444C>T NR_103836.1:n.1489C>T |
NP_001265645.1:p.Arg482Trp NP_036292.2:p.Arg482Trp |
3/5119 | 0.00029 | 1 | Likely pathogenic | |
| View | 6 | 99323552 | 99323553 | - > T | FBXL4 |
NM_001278716.1:c.1440dupA NM_012160.4:c.1440dupA NR_103836.1:n.1485dupA |
NP_001265645.1:p.Leu481ThrfsTer10 NP_036292.2:p.Leu481ThrfsTer10 |
2/5119 | 0.0002 | 2 | frameshift | Likely pathogenic |
| View | 6 | 105564658 | 105564661 | AAGA > - | BVES |
NM_001199563.1:c.731_734del NM_007073.4:c.731_734del NM_147147.3:c.731_734del |
NP_001186492.1:p.Phe244CysfsTer20 NP_009004.2:p.Phe244CysfsTer20 NP_671488.1:p.Phe244CysfsTer20 |
1/5119 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 6 | 131923522 | 131923522 | C > T | MED23 |
NM_001270521.1:c.1932-1G>A NM_004830.3:c.1932-1G>A NM_015979.3:c.1950-1G>A NM_001270522.1:c.1932-1G>A |
2/5119 | 0.0002 | 2 | acceptor_site | Likely pathogenic | |
| View | 6 | 152560836 | 152560836 | G > C | SYNE1 |
NM_182961.3:c.19899C>G NM_033071.3:c.19686C>G |
NP_892006.3:p.Tyr6633Ter NP_149062.1:p.Tyr6562Ter |
2/5119 | 0.0002 | 2 | premature_stop | Likely pathogenic |
| View | 7 | 65546812 | 65546812 | G > A | ASL |
NM_001024946.1:c.35G>A NM_000048.3:c.35G>A NM_001024944.1:c.35G>A NM_001024943.1:c.35G>A |
NP_001020117.1:p.Arg12Gln NP_000039.2:p.Arg12Gln NP_001020115.1:p.Arg12Gln NP_001020114.1:p.Arg12Gln |
30/6913 | 0.00217 | 2 | Likely pathogenic | |
| View | 7 | 97483937 | 97483938 | - > A | ASNS |
NM_001673.4:c.1192dupT NM_133436.3:c.1192dupT NM_183356.3:c.1192dupT NM_001178076.1:c.943dupT NM_001178075.1:c.1129dupT NM_001178077.1:c.943dupT |
NP_001664.3:p.Tyr398LeufsTer4 NP_597680.2:p.Tyr398LeufsTer4 NP_899199.2:p.Tyr398LeufsTer4 NP_001171547.1:p.Tyr315LeufsTer4 NP_001171546.1:p.Tyr377LeufsTer4 NP_001171548.1:p.Tyr315LeufsTer4 |
3/5119 | 0.00029 | 2 | frameshift | Likely pathogenic |
| View | 7 | 97488213 | 97488213 | A > G | ASNS |
NM_001673.4:c.728T>C NM_133436.3:c.728T>C NM_001178076.1:c.479T>C NM_183356.3:c.728T>C NM_001178075.1:c.665T>C NM_001178077.1:c.479T>C |
NP_001664.3:p.Val243Ala NP_597680.2:p.Val243Ala NP_001171547.1:p.Val160Ala NP_899199.2:p.Val243Ala NP_001171546.1:p.Val222Ala NP_001171548.1:p.Val160Ala |
3/5119 | 0.00029 | 1 | non_synonymous | Likely pathogenic |
| View | 7 | 117149143 | 117149143 | C > T | CFTR |
NM_000492.3:c.220C>T |
NP_000483.3:p.Arg74Trp |
38/7003 | 0.00271 | 1 | Likely pathogenic | |
| View | 7 | 117232470 | 117232470 | C > T | CFTR |
NM_000492.3:c.2249C>T |
NP_000483.3:p.Pro750Leu |
11/7003 | 0.00079 | 1 | Likely pathogenic | |
| View | 7 | 117232473 | 117232473 | G > T | CFTR |
NM_000492.3:c.2252G>T |
NP_000483.3:p.Arg751Leu |
1/7003 | 7.0e-05 | 1 | Likely pathogenic | |
| View | 7 | 117234999 | 117234999 | G > T | CFTR |
NM_000492.3:c.2506G>T |
NP_000483.3:p.Asp836Tyr |
10/7003 | 0.00071 | 1 | Likely pathogenic | |
| View | 8 | 22031174 | 22031174 | C > T | BMP1 |
NR_033403.1:n.474C>T NR_033404.1:n.474C>T NM_006129.4:c.208C>T NM_001199.3:c.208C>T |
NP_006120.1:p.Gln70Ter NP_001190.1:p.Gln70Ter |
1/5119 | 0.0001 | 1 | premature_stop | Likely pathogenic |
| View | 8 | 97172848 | 97172848 | G > A | GDF6 |
NM_001001557.2:c.73C>T |
NP_001001557.1:p.Gln25Ter |
1/5119 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 8 | 116631538 | 116631538 | G > - | TRPS1 |
NM_014112.2:c.787del |
NP_054831.2:p.Leu263CysfsTer53 |
1/5119 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | 8 | 145736918 | 145736918 | G > A | RECQL4 |
NM_004260.3:c.3524C>T |
NP_004251.3:p.Pro1175Leu |
2/5119 | 0.0002 | 1 | non_synonymous | Likely pathogenic |
| View | 9 | 271626 | 271626 | G > T | DOCK8 |
ENST00000432829.2:c.-151-1G>T ENST00000453981.1:c.54-1G>T |
4/6913 | 0.00029 | 2 | acceptor_site | Likely pathogenic | |
| View | 9 | 79975555 | 79975555 | G > T | VPS13A |
NM_015186.3:c.8209G>T NM_001018037.1:c.8092G>T NM_001018038.2:c.8209G>T NM_033305.2:c.8209G>T |
NP_056001.1:p.Glu2737Ter NP_001018047.1:p.Glu2698Ter NP_001018048.1:p.Glu2737Ter NP_150648.2:p.Glu2737Ter |
1/5119 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | 9 | 95030504 | 95030505 | TC > - | IARS |
NR_073446.1:n.1378_1379del NM_013417.3:c.1382_1383del NM_002161.5:c.1382_1383del |
NP_038203.2:p.Arg461IlefsTer13 NP_002152.2:p.Arg461IlefsTer13 |
2/5101 | 0.0002 | 2 | frameshift | Likely pathogenic |
| View | 9 | 97912356 | 97912356 | G > A | FANCC |
NM_000136.2:c.535C>T NM_001243744.1:c.535C>T NM_001243743.1:c.535C>T |
NP_000127.2:p.Arg179Ter NP_001230673.1:p.Arg179Ter NP_001230672.1:p.Arg179Ter |
2/6913 | 0.00014 | 1 | Likely pathogenic | |
| View | 9 | 99017189 | 99017189 | G > A | HSD17B3 |
NM_000197.1:c.238C>T |
NP_000188.1:p.Arg80Trp |
1/6913 | 0.00014 | 1 | Likely pathogenic | |
| View | 9 | 134398318 | 134398320 | GGT > - | POMT1 |
ENST00000404875.2:c.1653-1_1654del ENST00000341012.7:c.1842-1_1843del ENST00000372228.3:c.2070-1_2071del ENST00000423007.1:c.2004-1_2005del ENST00000402686.3:c.2004-1_2005del |
1/6913 | 7.0e-05 | 2 | disruption_of_splicing | Likely pathogenic | |
| View | 9 | 140057186 | 140057186 | C > A | GRIN1 |
NM_021569.3:c.2008C>A NM_001185091.1:c.2071C>A NM_007327.3:c.2008C>A NM_001185090.1:c.2071C>A NM_000832.6:c.2008C>A |
NP_067544.1:p.Pro670Thr NP_001172020.1:p.Pro691Thr NP_015566.1:p.Pro670Thr NP_001172019.1:p.Pro691Thr NP_000823.4:p.Pro670Thr |
1/5119 | 0.0001 | 1 | non_synonymous | Likely pathogenic |
| View | X | 19377698 | 19377698 | A > C | PDHA1 |
NM_001173454.1:c.1214A>C NM_000284.3:c.1100A>C NM_001173455.1:c.1121A>C NM_001173456.1:c.1007A>C |
NP_001166925.1:p.His405Pro NP_000275.1:p.His367Pro NP_001166926.1:p.His374Pro NP_001166927.1:p.His336Pro |
1/6913 | 7.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | X | 21761900 | 21761901 | - > G | SMPX |
NM_014332.2:c.99dupC NR_045617.1:n.330dupC |
NP_055147.1:p.Arg34GlnfsTer8 |
1/5119 | 0.0002 | 2 | frameshift | Likely pathogenic |
| View | X | 41200785 | 41200786 | - > TGCG | DDX3X |
NM_001193416.1:c.202_205dupGCGT NM_001193417.1:c.154_157dupGCGT NM_001356.3:c.202_205dupGCGT |
NP_001180345.1:p.Tyr69CysfsTer3 NP_001180346.1:p.Tyr53CysfsTer3 NP_001347.3:p.Tyr69CysfsTer3 |
1/5119 | 0.0001 | 2 | frameshift | Likely pathogenic |
| View | X | 53250025 | 53250025 | A > G | KDM5C |
NM_004187.3:c.224T>C NM_001146702.1:c.151-2877T>C |
NP_004178.2:p.Leu75Pro |
1/6913 | 7.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | X | 64141723 | 64141723 | G > A | ZC4H2 |
NM_001178033.2:c.199C>T NM_018684.3:c.199C>T NM_001178032.2:c.130C>T NR_045044.1:n.610C>T NM_001243804.1:c.130C>T |
NP_001171504.1:p.Arg67Ter NP_061154.1:p.Arg67Ter NP_001171503.1:p.Arg44Ter NP_001230733.1:p.Arg44Ter |
1/5119 | 0.0001 | 2 | premature_stop | Likely pathogenic |
| View | X | 66941751 | 66941751 | C > G | AR |
NM_001011645.2:c.799C>G NM_000044.3:c.2395C>G |
NP_001011645.1:p.Gln267Glu NP_000035.2:p.Gln799Glu |
12/6913 | 0.00116 | 1 | Likely pathogenic | |
| View | X | 79945476 | 79945476 | G > A | BRWD3 |
ENST00000373275.4:c.3718C>T |
ENSP00000362372.4:p.Arg1240Ter |
1/6913 | 0.00014 | 1 | premature_stop | Likely pathogenic |
| View | X | 99661781 | 99661781 | G > C | PCDH19 |
NM_001184880.1:c.1815C>G NM_020766.2:c.1815C>G NM_001105243.1:c.1815C>G |
NP_001171809.1:p.Tyr605Ter NP_065817.2:p.Tyr605Ter NP_001098713.1:p.Tyr605Ter |
1/6913 | 7.0e-05 | 2 | premature_stop | Likely pathogenic |
| View | X | 103041590 | 103041590 | C > T | PLP1 |
NM_199478.1:c.348+40C>T NM_001128834.1:c.388C>T NM_000533.3:c.388C>T |
NP_001122306.1:p.His130Tyr NP_000524.3:p.His130Tyr |
1/6913 | 0.00014 | 1 | Likely pathogenic | |
| View | X | 107829923 | 107829923 | G > A | COL4A5 |
NM_000495.4:c.1111G>A NM_033380.2:c.1111G>A |
NP_000486.1:p.Gly371Arg NP_203699.1:p.Gly371Arg |
1/6913 | 7.0e-05 | 1 | non_synonymous | Likely pathogenic |
| View | X | 107865078 | 107865078 | G > A | COL4A5 |
NM_000495.4:c.2723G>A NM_033380.2:c.2723G>A |
NP_000486.1:p.Gly908Glu NP_203699.1:p.Gly908Glu |
1/6913 | 0.00014 | 1 | non_synonymous | Likely pathogenic |
| View | X | 149767053 | 149767053 | T > G | MTM1 |
NM_000252.2:c.137-3T>G |
1/6913 | 0.00014 | 1 | Likely pathogenic |