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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 1 | 151372055 | 151372055 | G > A | PSMB4 |
NM_002796.2:c.-9G>A |
57/11951 | 0.00238 | 3 | curation | Uncertain Significance | |
| View | 1 | 151378742 | 151378742 | G > T | POGZ POGZ POGZ POGZ POGZ |
NM_207171.2:c.2610C>A NM_001194937.1:c.2742C>A NM_001194938.1:c.2583C>A NM_015100.3:c.2769C>A NM_145796.3:c.2484C>A |
NP_997054.1:p.His870Gln NP_001181866.1:p.His914Gln NP_001181867.1:p.His861Gln NP_055915.2:p.His923Gln NP_665739.3:p.His828Gln |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 154558776 | 154558776 | C > G | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.2990G>C NM_001025107.2:c.2198G>C ENST00000368474.4:c.3083G>C NM_001193495.1:c.2198G>C |
ENSP00000431794.1:p.Gly997Ala NP_001020278.1:p.Gly733Ala ENSP00000357459.4:p.Gly1028Ala NP_001180424.1:p.Gly733Ala |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 154573889 | 154573889 | T > C | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.1214A>G NM_001025107.2:c.344A>G ENST00000368474.4:c.1229A>G NM_001193495.1:c.344A>G |
ENSP00000431794.1:p.Glu405Gly NP_001020278.1:p.Glu115Gly ENSP00000357459.4:p.Glu410Gly NP_001180424.1:p.Glu115Gly |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 155261649 | 155261649 | C > T | PKLR PKLR |
NM_181871.3:c.1423G>A NM_000298.5:c.1516G>A |
NP_870986.1:p.Val475Ile NP_000289.1:p.Val506Ile |
177/14969 | 0.00591 | 3 | curation | Uncertain Significance |
| View | 1 | 155450311 | 155450311 | T > C | ASH1L |
NM_018489.2:c.2350A>G |
NP_060959.2:p.Lys784Glu |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 156106049 | 156106049 | G > A | LMNA LMNA LMNA LMNA LMNA LMNA |
NM_001257374.1:c.866G>A NM_005572.3:c.1202G>A NR_047544.1:n.1843G>A NR_047545.1:n.1090G>A NM_170707.3:c.1202G>A NM_170708.3:c.1202G>A |
NP_001244303.1:p.Arg289His NP_005563.1:p.Arg401His NP_733821.1:p.Arg401His NP_733822.1:p.Arg401His |
4/13843 | 0.00014 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 156108453 | 156108453 | A > C | LMNA LMNA LMNA |
NM_001257374.1:c.1537A>C NM_170707.3:c.1873A>C NM_170708.3:c.1783A>C |
NP_001244303.1:p.Ser513Arg NP_733821.1:p.Ser625Arg NP_733822.1:p.Ser595Arg |
2/13843 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 156108454 | 156108454 | G > C | LMNA LMNA LMNA |
NM_001257374.1:c.1538G>C NM_170707.3:c.1874G>C NM_170708.3:c.1784G>C |
NP_001244303.1:p.Ser513Thr NP_733821.1:p.Ser625Thr NP_733822.1:p.Ser595Thr |
2/13843 | 7.0e-05 | 1 | Uncertain Significance | |
| View | 1 | 160099139 | 160099139 | C > G | ATP1A2 |
NM_000702.3:c.1410C>G |
NP_000693.1:p.Asp470Glu |
4/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 161179934 | 161179934 | C > A | NDUFS2 NDUFS2 |
NM_001166159.1:c.736C>A NM_004550.4:c.736C>A |
NP_001159631.1:p.Gln246Lys NP_004541.1:p.Gln246Lys |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 161276518 | 161276518 | G > A | MPZ |
NM_000530.6:c.428C>T |
NP_000521.2:p.Thr143Met |
4/14969 | 0.00013 | 3 | Uncertain Significance | |
| View | 1 | 161928377 | 161928377 | T > G | ATF6 |
NM_007348.3:c.1946T>G |
NP_031374.2:p.Phe649Cys |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 162724611 | 162724611 | G > A | DDR2 DDR2 |
NM_001014796.1:c.383G>A NM_006182.2:c.383G>A |
NP_001014796.1:p.Arg128His NP_006173.2:p.Arg128His |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 165737912 | 165737912 | C > T | TMCO1 TMCO1 TMCO1 TMCO1 |
NM_019026.4:c.223+7G>A NM_001256165.1:c.-160G>A NM_001256164.1:c.146+84G>A NR_045818.1:n.164+84G>A |
1/11983 | 4.0e-05 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 1 | 165738064 | 165738064 | G > C | TMCO1 TMCO1 TMCO1 TMCO1 |
NM_019026.4:c.78C>G NM_001256165.1:c.-312C>G NM_001256164.1:c.78C>G NR_045818.1:n.96C>G |
NP_061899.2:p.Ser26Arg NP_001243093.1:p.Ser26Arg |
40/13144 | 0.00152 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 182354983 | 182354983 | C > G | GLUL GLUL GLUL |
NM_001033056.2:c.515G>C NM_001033044.2:c.515G>C NM_002065.5:c.515G>C |
NP_001028228.1:p.Gly172Ala NP_001028216.1:p.Gly172Ala NP_002056.2:p.Gly172Ala |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 183534901 | 183534901 | G > A | NCF2 NCF2 NCF2 NCF2 |
NM_001190794.1:c.803C>T NM_000433.3:c.938C>T NM_001127651.2:c.938C>T NM_001190789.1:c.695C>T |
NP_001177723.1:p.Pro268Leu NP_000424.2:p.Pro313Leu NP_001121123.1:p.Pro313Leu NP_001177718.1:p.Pro232Leu |
12/13144 | 0.00046 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 184020890 | 184020890 | A > G | TSEN15 TSEN15 TSEN15 |
NM_001127394.2:c.1A>G NM_052965.2:c.1A>G NR_023349.1:n.80A>G |
NP_001120866.1:p.Met1? NP_443197.1:p.Met1? |
3/13144 | 0.00011 | 3 | loss_of_initiation | Uncertain Significance |
| View | 1 | 196197475 | 196197475 | G > T | KCNT2 |
ENST00000294725.9:c.3297-10C>A |
3/11944 | 0.00013 | 3 | polypyrimidine_tract | Uncertain Significance | |
| View | 1 | 197071299 | 197071299 | G > C | ASPM ASPM |
NM_001206846.1:c.4066-6005C>G NM_018136.4:c.7082C>G |
NP_060606.3:p.Ser2361Cys |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 197071867 | 197071867 | C > T | ASPM ASPM |
NM_001206846.1:c.4066-6573G>A NM_018136.4:c.6514G>A |
NP_060606.3:p.Val2172Ile |
4/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 197098435 | 197098435 | G > A | ASPM ASPM |
NM_001206846.1:c.2642C>T NM_018136.4:c.2642C>T |
NP_001193775.1:p.Ala881Val NP_060606.3:p.Ala881Val |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 197298095 | 197298095 | T > C | CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 |
ENST00000367400.3:c.614T>C ENST00000538660.1:c.614T>C ENST00000535699.1:c.407T>C NR_047563.1:n.823T>C ENST00000367399.2:c.614T>C NR_047564.1:n.823T>C |
ENSP00000356370.3:p.Ile205Thr ENSP00000438091.1:p.Ile205Thr ENSP00000438786.1:p.Ile136Thr ENSP00000356369.2:p.Ile205Thr |
22/13144 | 0.00084 | 3 | curation | Uncertain Significance |
| View | 1 | 200635484 | 200635484 | A > C | DDX59 |
NM_001031725.4:c.385T>G |
NP_001026895.2:p.Leu129Val |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 201328373 | 201328373 | G > A | TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 |
NM_001276345.1:c.862C>T NM_000364.3:c.853C>T NM_001001431.2:c.823C>T NM_001001432.2:c.814C>T NM_001001430.2:c.832C>T NM_001276347.1:c.832C>T NM_001276346.1:c.733C>T |
NP_001263274.1:p.Arg288Cys NP_000355.2:p.Arg285Cys NP_001001431.1:p.Arg275Cys NP_001001432.1:p.Arg272Cys NP_001001430.1:p.Arg278Cys NP_001263276.1:p.Arg278Cys NP_001263275.1:p.Arg245Cys |
13/13144 | 0.00049 | 3 | curation | Uncertain Significance |
| View | 1 | 201330411 | 201330411 | T > C | TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 |
NM_001276345.1:c.806A>G NM_000364.3:c.797A>G NM_001001431.2:c.767A>G NM_001001432.2:c.758A>G NM_001001430.2:c.776A>G NM_001276347.1:c.776A>G NM_001276346.1:c.677A>G |
NP_001263274.1:p.Tyr269Cys NP_000355.2:p.Tyr266Cys NP_001001431.1:p.Tyr256Cys NP_001001432.1:p.Tyr253Cys NP_001001430.1:p.Tyr259Cys NP_001263276.1:p.Tyr259Cys NP_001263275.1:p.Tyr226Cys |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 201334772 | 201334772 | G > A | TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 |
NM_001276345.1:c.260C>T NM_000364.3:c.260C>T NM_001001431.2:c.230C>T NM_001001432.2:c.215C>T NM_001001430.2:c.230C>T NM_001276347.1:c.230C>T NM_001276346.1:c.257C>T |
NP_001263274.1:p.Pro87Leu NP_000355.2:p.Pro87Leu NP_001001431.1:p.Pro77Leu NP_001001432.1:p.Pro72Leu NP_001001430.1:p.Pro77Leu NP_001263276.1:p.Pro77Leu NP_001263275.1:p.Pro86Leu |
5/13144 | 0.00019 | 3 | curation | Uncertain Significance |
| View | 1 | 202718183 | 202718183 | T > C | KDM5B |
NM_006618.3:c.1906A>G |
NP_006609.3:p.Met636Val |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 205028229 | 205028229 | C > T | CNTN2 |
NM_005076.3:c.505C>T |
NP_005067.1:p.Leu169Phe |
83/13144 | 0.00316 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 205033819 | 205033819 | C > T | CNTN2 |
NM_005076.3:c.1460C>T |
NP_005067.1:p.Thr487Ile |
21/13144 | 0.0008 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 205041651 | 205041651 | A > - | CNTN2 |
NM_005076.3:c.2773del |
NP_005067.1:p.Ser925AlafsTer33 |
6/13144 | 0.00023 | 3 | frameshift GUS | Uncertain Significance |
| View | 1 | 211654499 | 211654499 | T > C | RD3 RD3 |
NM_001164688.1:c.259A>G NM_183059.2:c.259A>G |
NP_001158160.1:p.Lys87Glu NP_898882.1:p.Lys87Glu |
13/13144 | 0.00049 | 3 | curation | Uncertain Significance |
| View | 1 | 214820265 | 214820265 | A > G | CENPF |
NM_016343.3:c.7352A>G |
NP_057427.3:p.Asn2451Ser |
4/13105 | 0.00015 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 216246591 | 216246591 | T > C | USH2A |
ENST00000307340.3:c.5624A>G |
ENSP00000305941.3:p.Asn1875Ser |
13/14969 | 0.00043 | 3 | curation | Uncertain Significance |
| View | 1 | 220279317 | 220279317 | T > C | IARS2 |
NM_018060.3:c.1151T>C |
NP_060530.3:p.Met384Thr |
4/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 220355619 | 220355619 | G > A | RAB3GAP2 |
NM_012414.3:c.2290C>T |
NP_036546.2:p.Leu764Phe |
40/14969 | 0.00134 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 227170644 | 227170644 | A > G | COQ8A |
NM_020247.4:c.989A>G |
NP_064632.2:p.Tyr330Cys |
9/14969 | 0.0003 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 228346015 | 228346015 | G > T | GJC2 |
NM_020435.3:c.556G>T |
NP_065168.2:p.Gly186Cys |
24/14969 | 0.0008 | 3 | curation | Uncertain Significance |
| View | 1 | 228346406 | 228346406 | C > T | GJC2 |
NM_020435.3:c.947C>T |
NP_065168.2:p.Pro316Leu |
27/14969 | 0.001 | 3 | curation | Uncertain Significance |
| View | 1 | 228346429 | 228346429 | G > A | GJC2 |
NM_020435.3:c.970G>A |
NP_065168.2:p.Ala324Thr |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 228346693 | 228346693 | C > T | GJC2 |
NM_020435.3:c.1234C>T |
NP_065168.2:p.His412Tyr |
34/14969 | 0.00114 | 3 | curation | Uncertain Significance |
| View | 1 | 228363053 | 228363053 | G > C | IBA57 |
NM_001010867.2:c.910G>C |
NP_001010867.1:p.Gly304Arg |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 235577815 | 235577815 | A > G | TBCE TBCE |
NM_001079515.1:c.253A>G NM_003193.3:c.253A>G |
NP_001072983.1:p.Ile85Val NP_003184.1:p.Ile85Val |
9/14969 | 0.0003 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 235597606 | 235597606 | C > T | TBCE TBCE |
NM_001079515.1:c.737+11C>T NM_003193.3:c.737+11C>T |
12/13772 | 0.00044 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 1 | 237048482 | 237048482 | A > T | MTR |
NM_000254.2:c.2738A>T |
NP_000245.2:p.Tyr913Phe |
2/13144 | 8.0e-05 | 3 | curation | Uncertain Significance |
| View | 1 | 237619960 | 237619960 | C > G | RYR2 |
NM_001035.2:c.1537C>G |
NP_001026.2:p.His513Asp |
4/13333 | 0.00015 | 1 | Uncertain Significance | |
| View | 1 | 237655172 | 237655172 | G > T | RYR2 |
NM_001035.2:c.1775G>T |
NP_001026.2:p.Gly592Val |
1/13333 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 237791239 | 237791239 | G > A | RYR2 |
NM_001035.2:c.6299G>A |
NP_001026.2:p.Arg2100Gln |
4/13333 | 0.00015 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 237791319 | 237791319 | C > T | RYR2 |
NM_001035.2:c.6379C>T |
NP_001026.2:p.Arg2127Trp |
1/13333 | 4.0e-05 | 3 | Uncertain Significance |