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

View | 7 | 82579067 | 82579067 | C > A | PCLO PCLO |
NM_014510.2:c.10837G>T NM_033026.5:c.10837G>T |
NP_055325.2:p.Ala3613Ser NP_149015.2:p.Ala3613Ser |
8/8685 | 0.00046 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 82583853 | 82583853 | T > C | PCLO PCLO |
NM_014510.2:c.6416A>G NM_033026.5:c.6416A>G |
NP_055325.2:p.Glu2139Gly NP_149015.2:p.Glu2139Gly |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 87069546 | 87069546 | T > C | ABCB4 ABCB4 ABCB4 |
NM_018850.2:c.1529A>G NM_000443.3:c.1529A>G NM_018849.2:c.1529A>G |
NP_061338.1:p.Asn510Ser NP_000434.1:p.Asn510Ser NP_061337.1:p.Asn510Ser |
5/10773 | 0.00023 | 3 | Uncertain Significance | |

View | 7 | 97482383 | 97482383 | C > T | ASNS ASNS ASNS ASNS ASNS ASNS |
NM_183356.3:c.1465G>A NM_001178077.1:c.1216G>A NM_133436.3:c.1465G>A NM_001178075.1:c.1402G>A NM_001178076.1:c.1216G>A NM_001673.4:c.1465G>A |
NP_899199.2:p.Val489Ile NP_001171548.1:p.Val406Ile NP_597680.2:p.Val489Ile NP_001171546.1:p.Val468Ile NP_001171547.1:p.Val406Ile NP_001664.3:p.Val489Ile |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 97482484 | 97482484 | G > A | ASNS ASNS ASNS ASNS ASNS ASNS |
NM_183356.3:c.1364C>T NM_001178077.1:c.1115C>T NM_133436.3:c.1364C>T NM_001178075.1:c.1301C>T NM_001178076.1:c.1115C>T NM_001673.4:c.1364C>T |
NP_899199.2:p.Ser455Phe NP_001171548.1:p.Ser372Phe NP_597680.2:p.Ser455Phe NP_001171546.1:p.Ser434Phe NP_001171547.1:p.Ser372Phe NP_001664.3:p.Ser455Phe |
32/8685 | 0.00184 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 98782671 | 98782671 | G > T | KPNA7 |
NM_001145715.1:c.1015C>A |
NP_001139187.1:p.Pro339Thr |
2/8685 | 0.00012 | 1 | Uncertain Significance | |

View | 7 | 99701060 | 99701060 | C > T | AP4M1 |
NM_004722.3:c.380C>T |
NP_004713.2:p.Thr127Met |
13/8685 | 0.00075 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 103126879 | 103126879 | C > G | RELN RELN |
NM_173054.2:c.9764-16G>C NM_005045.3:c.9764-16G>C |
1/10482 | 5.0e-05 | 3 | three_prime_flank | Uncertain Significance | |

View | 7 | 103234938 | 103234938 | A > C | RELN RELN |
NM_173054.2:c.3541T>G NM_005045.3:c.3541T>G |
NP_774959.1:p.Phe1181Val NP_005036.2:p.Phe1181Val |
1/10521 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 103281044 | 103281044 | G > A | RELN RELN |
NM_173054.2:c.2015C>T NM_005045.3:c.2015C>T |
NP_774959.1:p.Pro672Leu NP_005036.2:p.Pro672Leu |
5/10521 | 0.00024 | 3 | Uncertain Significance | |

View | 7 | 103322621 | 103322621 | G > T | RELN RELN |
NM_173054.2:c.1231C>A NM_005045.3:c.1231C>A |
NP_774959.1:p.Leu411Ile NP_005036.2:p.Leu411Ile |
5/10521 | 0.00024 | 1 | Uncertain Significance | |

View | 7 | 103629665 | 103629665 | C > T | RELN RELN |
NM_173054.2:c.139G>A NM_005045.3:c.139G>A |
NP_774959.1:p.Glu47Lys NP_005036.2:p.Glu47Lys |
25/10521 | 0.00119 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 107572729 | 107572730 | - > C | LAMB1 |
NM_002291.2:c.4281dupG |
NP_002282.2:p.Pro1428AlafsTer30 |
2/8685 | 0.00012 | 3 | frameshift | Uncertain Significance |

View | 7 | 107592624 | 107592624 | C > T | LAMB1 |
NM_002291.2:c.3124G>A |
NP_002282.2:p.Gly1042Ser |
10/8685 | 0.00063 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 114298205 | 114298205 | A > G | FOXP2 FOXP2 FOXP2 FOXP2 FOXP2 FOXP2 |
NM_148898.3:c.1426A>G NR_033767.1:n.1783A>G NR_033766.1:n.1854-1206A>G NM_148900.3:c.1402A>G NM_014491.3:c.1351A>G NM_001172766.2:c.1348A>G |
NP_683696.2:p.Thr476Ala NP_683698.2:p.Thr468Ala NP_055306.1:p.Thr451Ala NP_001166237.1:p.Thr450Ala |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 117149147 | 117149147 | G > A | CFTR |
NM_000492.3:c.224G>A |
NP_000483.3:p.Arg75Gln |
505/10773 | 0.02386 | 3 | Uncertain Significance | |

View | 7 | 117230454 | 117230454 | G > C | CFTR |
NM_000492.3:c.1727G>C |
NP_000483.3:p.Gly576Ala |
121/10773 | 0.00562 | 3 | Uncertain Significance | |

View | 7 | 117232223 | 117232223 | C > T | CFTR |
NM_000492.3:c.2002C>T |
NP_000483.3:p.Arg668Cys |
161/10773 | 0.00747 | 3 | Uncertain Significance | |

View | 7 | 117251649 | 117251649 | T > G | CFTR |
NM_000492.3:c.3154T>G |
NP_000483.3:p.Phe1052Val |
11/10773 | 0.00051 | 1 | Uncertain Significance | |

View | 7 | 121733160 | 121733160 | T > C | AASS |
NM_005763.3:c.1708A>G |
NP_005754.2:p.Lys570Glu |
3/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 128637511 | 128637511 | T > C | TNPO3 TNPO3 TNPO3 |
NR_034053.2:n.1654A>G NM_001191028.2:c.1090A>G NM_012470.3:c.1090A>G |
NP_001177957.2:p.Ile364Val NP_036602.1:p.Ile364Val |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 129519477 | 129519477 | A > G | UBE2H UBE2H UBE2H |
NM_003344.3:c.136T>C NM_182697.2:c.136T>C NM_001202498.1:c.-75T>C |
NP_003335.1:p.Tyr46His NP_874356.1:p.Tyr46His |
1/8646 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 130038845 | 130038845 | A > G | CEP41 CEP41 CEP41 CEP41 |
NM_001257159.1:c.745T>C NM_001257158.1:c.793T>C NM_018718.2:c.1009T>C NR_046443.1:n.1177T>C |
NP_001244088.1:p.Ser249Pro NP_001244087.1:p.Ser265Pro NP_061188.1:p.Ser337Pro |
17/8685 | 0.00098 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 130044398 | 130044398 | C > T | CEP41 CEP41 CEP41 CEP41 |
NM_001257159.1:c.374+7G>A NM_001257158.1:c.422+7G>A NM_018718.2:c.422+7G>A NR_046443.1:n.590+83G>A |
1/8685 | 6.0e-05 | 3 | five_prime_intronic | Uncertain Significance | |

View | 7 | 130044507 | 130044507 | G > C | CEP41 CEP41 CEP41 CEP41 |
NM_001257159.1:c.272C>G NM_001257158.1:c.320C>G NM_018718.2:c.320C>G NR_046443.1:n.564C>G |
NP_001244088.1:p.Ala91Gly NP_001244087.1:p.Ala107Gly NP_061188.1:p.Ala107Gly |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 143039587 | 143039587 | T > G | CLCN1 CLCN1 |
ENST00000343257.2:c.1919T>G NR_046453.1:n.1859T>G |
ENSP00000339867.2:p.Val640Gly |
1/8685 | 6.0e-05 | 3 | Uncertain Significance | |

View | 7 | 145814041 | 145814041 | G > A | CNTNAP2 |
NM_014141.5:c.73G>A |
NP_054860.1:p.Ala25Thr |
31/8685 | 0.00178 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 146741107 | 146741107 | C > T | CNTNAP2 |
NM_014141.5:c.511C>T |
NP_054860.1:p.Arg171Cys |
3/8685 | 0.00017 | 3 | Uncertain Significance | |

View | 7 | 146825882 | 146825882 | A > G | CNTNAP2 |
NM_014141.5:c.1037A>G |
NP_054860.1:p.Asn346Ser |
3/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 147183065 | 147183065 | C > T | CNTNAP2 |
NM_014141.5:c.1709C>T |
NP_054860.1:p.Ser570Leu |
3/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 148523708 | 148523708 | C > T | EZH2 EZH2 EZH2 EZH2 EZH2 |
NM_152998.2:c.628G>A NM_001203249.1:c.718G>A NM_004456.4:c.745G>A NM_001203247.1:c.745G>A NM_001203248.1:c.718G>A |
NP_694543.1:p.Glu210Lys NP_001190178.1:p.Glu240Lys NP_004447.2:p.Glu249Lys NP_001190176.1:p.Glu249Lys NP_001190177.1:p.Glu240Lys |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 154172047 | 154172049 | AAG > - | DPP6 DPP6 DPP6 |
ENST00000377770.3:c.388_390del ENST00000332007.3:c.202_204del ENST00000404039.1:c.196_198del |
ENSP00000367001.3:p.Lys130del ENSP00000328226.3:p.Lys68del ENSP00000385578.1:p.Lys66del |
1/8685 | 6.0e-05 | 3 | in_frame_indel | Uncertain Significance |

View | 8 | 1719594 | 1719594 | A > G | CLN8 |
NM_018941.3:c.374A>G |
NP_061764.2:p.Asn125Ser |
22/10521 | 0.00105 | 3 | Uncertain Significance | |

View | 8 | 1904983 | 1904983 | C > T | ARHGEF10 |
NM_014629.2:c.3589C>T |
NP_055444.2:p.His1197Tyr |
5/8685 | 0.00035 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 15508269 | 15508269 | C > G | TUSC3 TUSC3 |
NM_006765.3:c.372C>G NM_178234.2:c.372C>G |
NP_006756.2:p.Asn124Lys NP_839952.1:p.Asn124Lys |
3/10521 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 21983099 | 21983099 | G > A | HR HR |
NM_018411.4:c.1552C>T NM_005144.4:c.1552C>T |
NP_060881.2:p.Arg518Trp NP_005135.2:p.Arg518Trp |
5/8685 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 22020159 | 22020159 | G > A | SFTPC SFTPC SFTPC |
NM_001172410.1:c.115G>A NM_003018.3:c.115G>A NM_001172357.1:c.115G>A |
NP_001165881.1:p.Val39Met NP_003009.2:p.Val39Met NP_001165828.1:p.Val39Met |
4/10521 | 0.00019 | 1 | Uncertain Significance | |

View | 8 | 27320726 | 27320726 | C > T | CHRNA2 |
NM_000742.3:c.1234G>A |
NP_000733.2:p.Glu412Lys |
9/8685 | 0.00052 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 27634402 | 27634402 | C > T | ESCO2 |
NM_001017420.2:c.577C>T |
NP_001017420.1:p.Arg193Trp |
24/10521 | 0.00119 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 38275752 | 38275752 | C > T | FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 |
NM_023106.2:c.1151G>A NM_001174063.1:c.1418G>A NM_023105.2:c.1157G>A NM_001174066.1:c.1157G>A NM_001174067.1:c.1517G>A NM_001174064.1:c.1394G>A NM_001174065.1:c.1418G>A NM_015850.3:c.1418G>A NM_023110.2:c.1424G>A |
NP_075594.1:p.Arg384Gln NP_001167534.1:p.Arg473Gln NP_075593.1:p.Arg386Gln NP_001167537.1:p.Arg386Gln NP_001167538.1:p.Arg506Gln NP_001167535.1:p.Arg465Gln NP_001167536.1:p.Arg473Gln NP_056934.2:p.Arg473Gln NP_075598.2:p.Arg475Gln |
3/8685 | 0.00017 | 1 | Uncertain Significance | |

View | 8 | 38282064 | 38282064 | A > G | FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 |
NM_023106.2:c.626T>C NM_001174063.1:c.899T>C NM_023105.2:c.632T>C NM_001174066.1:c.632T>C NM_001174067.1:c.992T>C NM_001174064.1:c.875T>C NM_001174065.1:c.893T>C NM_015850.3:c.893T>C NM_023110.2:c.899T>C |
NP_075594.1:p.Ile209Thr NP_001167534.1:p.Ile300Thr NP_075593.1:p.Ile211Thr NP_001167537.1:p.Ile211Thr NP_001167538.1:p.Ile331Thr NP_001167535.1:p.Ile292Thr NP_001167536.1:p.Ile298Thr NP_056934.2:p.Ile298Thr NP_075598.2:p.Ile300Thr |
14/8685 | 0.00081 | 3 | Uncertain Significance | |

View | 8 | 41789998 | 41789998 | T > C | KAT6A KAT6A KAT6A |
NM_006766.3:c.5740A>G NM_001099412.1:c.5740A>G NM_001099413.1:c.5740A>G |
NP_006757.2:p.Met1914Val NP_001092882.1:p.Met1914Val NP_001092883.1:p.Met1914Val |
6/8685 | 0.00035 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 41790246 | 41790246 | T > C | KAT6A KAT6A KAT6A |
NM_006766.3:c.5492A>G NM_001099412.1:c.5492A>G NM_001099413.1:c.5492A>G |
NP_006757.2:p.Asn1831Ser NP_001092882.1:p.Asn1831Ser NP_001092883.1:p.Asn1831Ser |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 41791383 | 41791383 | G > A | KAT6A KAT6A KAT6A |
NM_006766.3:c.4355C>T NM_001099412.1:c.4355C>T NM_001099413.1:c.4355C>T |
NP_006757.2:p.Ala1452Val NP_001092882.1:p.Ala1452Val NP_001092883.1:p.Ala1452Val |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 41791756 | 41791756 | T > C | KAT6A KAT6A KAT6A |
NM_006766.3:c.3982A>G NM_001099412.1:c.3982A>G NM_001099413.1:c.3982A>G |
NP_006757.2:p.Lys1328Glu NP_001092882.1:p.Lys1328Glu NP_001092883.1:p.Lys1328Glu |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 41798940 | 41798940 | T > C | KAT6A KAT6A KAT6A |
NM_006766.3:c.2459A>G NM_001099412.1:c.2459A>G NM_001099413.1:c.2459A>G |
NP_006757.2:p.Glu820Gly NP_001092882.1:p.Glu820Gly NP_001092883.1:p.Glu820Gly |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 48691175 | 48691175 | G > C | PRKDC PRKDC |
ENST00000338368.3:c.11602C>G ENST00000314191.2:c.11695C>G |
ENSP00000345182.3:p.Leu3868Val ENSP00000313420.2:p.Leu3899Val |
14/8685 | 0.00081 | 3 | Uncertain Significance | |

View | 8 | 48873709 | 48873709 | C > G | MCM4 MCM4 |
NM_182746.2:c.5C>G NM_005914.3:c.5C>G |
NP_877423.1:p.Ser2Trp NP_005905.2:p.Ser2Trp |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 51569539 | 51569539 | T > G | SNTG1 |
NM_018967.2:c.920T>G |
NP_061840.1:p.Phe307Cys |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 8 | 61655037 | 61655037 | A > G | CHD7 |
NM_017780.3:c.1046A>G |
NP_060250.2:p.Asn349Ser |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |