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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 | 155206037 | 155206037 | G > A | GBA GBA GBA GBA GBA |
NM_001171812.1:c.1076C>T NM_001171811.1:c.962C>T NM_001005741.2:c.1223C>T NM_001005742.2:c.1223C>T NM_000157.3:c.1223C>T |
NP_001165283.1:p.Thr359Met NP_001165282.1:p.Thr321Met NP_001005741.1:p.Thr408Met NP_001005742.1:p.Thr408Met NP_000148.2:p.Thr408Met |
106/11422 | 0.00468 | 4 | Likely Benign | |
| View | 1 | 156100408 | 156100408 | C > T | LMNA LMNA LMNA LMNA LMNA LMNA |
NM_001257374.1:c.21C>T NM_005572.3:c.357C>T NR_047544.1:n.998C>T NR_047545.1:n.245C>T NM_170707.3:c.357C>T NM_170708.3:c.357C>T |
NP_001244303.1:p.Cys7= NP_005563.1:p.Arg119= NP_733821.1:p.Arg119= NP_733822.1:p.Arg119= |
61/10294 | 0.00301 | 4 | Likely Benign | |
| View | 1 | 156104965 | 156104965 | T > A | LMNA LMNA LMNA LMNA LMNA LMNA |
NM_001257374.1:c.475-13T>A NM_005572.3:c.811-13T>A NR_047544.1:n.1452-13T>A NR_047545.1:n.699-13T>A NM_170707.3:c.811-13T>A NM_170708.3:c.811-13T>A |
82/10254 | 0.00405 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 156851382 | 156851382 | G > A | NTRK1 NTRK1 NTRK1 |
NM_001007792.1:c.2231G>A NM_002529.3:c.2339G>A NM_001012331.1:c.2321G>A |
NP_001007793.1:p.Arg744Gln NP_002520.2:p.Arg780Gln NP_001012331.1:p.Arg774Gln |
135/11422 | 0.00595 | 4 | Likely Benign | |
| View | 1 | 158587368 | 158587368 | T > C | SPTA1 |
NM_003126.2:c.6559A>G |
NP_003117.2:p.Lys2187Glu |
49/9594 | 0.00261 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 160090708 | 160090708 | T > A | ATP1A2 |
NM_000702.3:c.25T>A |
NP_000693.1:p.Tyr9Asn |
67/9594 | 0.00349 | 4 | Likely Benign | |
| View | 1 | 160093165 | 160093165 | G > A | ATP1A2 |
NM_000702.3:c.340G>A |
NP_000693.1:p.Gly114Ser |
14/9594 | 0.00073 | 4 | non_synonymous | Likely Benign |
| View | 1 | 160099144 | 160099144 | A > G | ATP1A2 |
NM_000702.3:c.1415A>G |
NP_000693.1:p.Asn472Ser |
1/9594 | 5.0e-05 | 4 | non_synonymous | Likely Benign |
| View | 1 | 160249362 | 160249362 | A > G | PEX19 PEX19 PEX19 PEX19 |
NM_001193644.1:c.827T>C NM_002857.3:c.879T>C NR_036493.1:n.820T>C NR_036492.1:n.796T>C |
NP_001180573.1:p.Val276Ala NP_002848.1:p.Gly293= |
118/9595 | 0.00631 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 160249857 | 160249857 | T > C | PEX19 PEX19 PEX19 PEX19 |
NM_001193644.1:c.771+3A>G NM_002857.3:c.771+3A>G NR_036493.1:n.712+3A>G NR_036492.1:n.688+3A>G |
104/9594 | 0.00542 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 161180482 | 161180482 | G > A | NDUFS2 NDUFS2 |
NM_001166159.1:c.968G>A NM_004550.4:c.968G>A |
NP_001159631.1:p.Arg323Gln NP_004541.1:p.Arg323Gln |
71/9594 | 0.0038 | 4 | Likely Benign | |
| View | 1 | 161309335 | 161309336 | - > T | SDHC SDHC SDHC SDHC SDHC SDHC |
NM_003001.3:c.180-1038dupT NM_001035511.1:c.180-1038dupT NM_001035513.1:c.21-1038dupT NM_001278172.1:c.78-1038dupT NM_001035512.1:c.78-1038dupT NR_103459.1:n.210-6dupT |
51/9555 | 0.00288 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 162740180 | 162740180 | C > T | DDR2 DDR2 |
NM_001014796.1:c.1382C>T NM_006182.2:c.1382C>T |
NP_001014796.1:p.Ser461Leu NP_006173.2:p.Ser461Leu |
18/9594 | 0.00094 | 4 | non_synonymous | Likely Benign |
| View | 1 | 171605387 | 171605387 | T > C | MYOC |
NM_000261.1:c.1193A>G |
NP_000252.1:p.Lys398Arg |
123/9594 | 0.00651 | 4 | Likely Benign | |
| View | 1 | 172411087 | 172411087 | G > A | C1orf105 PIGC PIGC |
NM_139240.3:c.22-3126G>A NM_002642.3:c.676C>T NM_153747.1:c.676C>T |
NP_002633.1:p.Arg226Trp NP_714969.1:p.Arg226Trp |
178/9555 | 0.00931 | 4 | non_synonymous | Likely Benign |
| View | 1 | 173823011 | 173823011 | C > A | DARS2 |
NM_018122.4:c.1642C>A |
NP_060592.2:p.Leu548Met |
55/9594 | 0.00287 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 181724549 | 181724549 | G > A | CACNA1E CACNA1E CACNA1E |
NM_001205294.1:c.3932+16G>A NM_001205293.1:c.3989+16G>A NM_000721.3:c.3989+16G>A |
88/9556 | 0.00471 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 193219854 | 193219854 | C > A | CDC73 |
NM_024529.4:c.*12C>A |
57/9555 | 0.00298 | 4 | Likely Benign | ||
| View | 1 | 196757530 | 196757530 | T > C | CFHR3 CFHR3 |
NM_001166624.1:c.431-1645T>C NM_021023.5:c.613+2T>C |
31/9594 | 0.00193 | 4 | donor_site | Likely Benign | |
| View | 1 | 197059232 | 197059232 | C > A | ASPM ASPM |
NM_001206846.1:c.5075-18G>T NM_018136.4:c.9830-18G>T |
4/9556 | 0.00021 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 197059382 | 197059382 | T > C | ASPM ASPM |
NM_001206846.1:c.5018A>G NM_018136.4:c.9773A>G |
NP_001193775.1:p.His1673Arg NP_060606.3:p.His3258Arg |
22/9594 | 0.00115 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 197060124 | 197060124 | A > G | ASPM ASPM |
NM_001206846.1:c.4737T>C NM_018136.4:c.9492T>C |
NP_001193775.1:p.Tyr1579= NP_060606.3:p.Tyr3164= |
17/9594 | 0.00089 | 4 | Likely Benign | |
| View | 1 | 197070594 | 197070594 | A > G | ASPM ASPM |
NM_001206846.1:c.4066-5300T>C NM_018136.4:c.7787T>C |
NP_060606.3:p.Val2596Ala |
69/9594 | 0.0036 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 197071654 | 197071654 | C > A | ASPM ASPM |
NM_001206846.1:c.4066-6360G>T NM_018136.4:c.6727G>T |
NP_060606.3:p.Val2243Leu |
33/9594 | 0.00172 | 4 | non_synonymous | Likely Benign |
| View | 1 | 197072640 | 197072640 | T > C | ASPM ASPM |
NM_001206846.1:c.4066-7346A>G NM_018136.4:c.5741A>G |
NP_060606.3:p.Gln1914Arg |
20/9594 | 0.00104 | 4 | non_synonymous | Likely Benign |
| View | 1 | 197074168 | 197074168 | G > A | ASPM ASPM |
NM_001206846.1:c.4066-8874C>T NM_018136.4:c.4213C>T |
NP_060606.3:p.Arg1405Cys |
86/9594 | 0.00453 | 4 | non_synonymous | Likely Benign |
| View | 1 | 197115345 | 197115345 | C > T | ASPM ASPM |
NM_001206846.1:c.223G>A NM_018136.4:c.223G>A |
NP_001193775.1:p.Ala75Thr NP_060606.3:p.Ala75Thr |
67/9594 | 0.00349 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 200534651 | 200534651 | T > G | KIF14 |
NM_014875.2:c.3808A>C |
NP_055690.1:p.Ser1270Arg |
99/9594 | 0.00521 | 4 | non_synonymous | Likely Benign |
| View | 1 | 201046058 | 201046058 | C > T | CACNA1S |
NM_000069.2:c.1817G>A |
NP_000060.2:p.Ser606Asn |
150/9783 | 0.00767 | 4 | Likely Benign | |
| View | 1 | 201046164 | 201046164 | C > T | CACNA1S |
NM_000069.2:c.1711G>A |
NP_000060.2:p.Val571Ile |
16/9783 | 0.00082 | 3 | non_synonymous | Likely Benign |
| View | 1 | 201058391 | 201058391 | A > G | CACNA1S |
NM_000069.2:c.895T>C |
NP_000060.2:p.Tyr299His |
58/9783 | 0.00307 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 201058513 | 201058513 | C > A | CACNA1S |
NM_000069.2:c.773G>T |
NP_000060.2:p.Gly258Val |
2/9783 | 0.0001 | 4 | non_synonymous | Likely Benign |
| View | 1 | 202572108 | 202572109 | CC > - | SYT2 SYT2 |
NM_177402.4:c.465+20_465+21del NM_001136504.1:c.465+20_465+21del |
406/9556 | 0.03631 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 204378654 | 204378654 | G > C | PPP1R15B |
NM_032833.3:c.1886C>G |
NP_116222.3:p.Ser629Cys |
32/9594 | 0.00167 | 4 | non_synonymous | Likely Benign |
| View | 1 | 204966474 | 204966474 | G > A | NFASC NFASC NFASC NFASC |
NM_001005388.2:c.2959G>A NM_001160331.1:c.3136+6040G>A NM_001160332.1:c.3091+6040G>A NM_015090.3:c.3076+8540G>A |
NP_001005388.2:p.Ala987Thr |
93/9555 | 0.00487 | 3 | non_synonymous | Likely Benign |
| View | 1 | 205128698 | 205128698 | G > A | DSTYK DSTYK |
NM_199462.2:c.2215C>T NM_015375.2:c.2215C>T |
NP_955749.1:p.Arg739Trp NP_056190.1:p.Arg739Trp |
32/9594 | 0.00167 | 4 | non_synonymous | Likely Benign |
| View | 1 | 207780585 | 207780585 | C > A | CR1 CR1 |
NM_000651.4:c.5811-11C>A NM_000573.3:c.4461-11C>A |
159/9555 | 0.00842 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 211652382 | 211652382 | T > A | RD3 RD3 |
NM_001164688.1:c.584A>T NM_183059.2:c.584A>T |
NP_001158160.1:p.Asp195Val NP_898882.1:p.Asp195Val |
185/9594 | 0.00969 | 4 | Likely Benign | |
| View | 1 | 215848436 | 215848436 | A > G | USH2A |
ENST00000307340.3:c.12817T>C |
ENSP00000305941.3:p.Tyr4273His |
19/11422 | 0.00083 | 4 | non_synonymous | Likely Benign |
| View | 1 | 216270422 | 216270422 | T > C | USH2A |
ENST00000307340.3:c.4758+3A>G |
18/11422 | 0.00079 | 4 | Likely Benign | ||
| View | 1 | 216496932 | 216496932 | C > G | USH2A USH2A |
ENST00000366942.3:c.1434G>C ENST00000307340.3:c.1434G>C |
ENSP00000355909.3:p.Glu478Asp ENSP00000305941.3:p.Glu478Asp |
356/11422 | 0.01572 | 4 | Likely Benign | |
| View | 1 | 218607532 | 218607532 | G > C | TGFB2 TGFB2 |
NM_001135599.2:c.703G>C NM_003238.3:c.619G>C |
NP_001129071.1:p.Val235Leu NP_003229.1:p.Val207Leu |
83/9594 | 0.00433 | 4 | Likely Benign | |
| View | 1 | 220101127 | 220101127 | T > C | SLC30A10 SLC30A10 |
NR_046437.1:n.851+16A>G NM_018713.2:c.640+16A>G |
81/9555 | 0.0044 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 225592184 | 225592184 | A > C | LBR LBR |
NM_194442.2:c.1609T>G NM_002296.3:c.1609T>G |
NP_919424.1:p.Ser537Ala NP_002287.2:p.Ser537Ala |
36/11422 | 0.00158 | 4 | non_synonymous | Likely Benign |
| View | 1 | 226026573 | 226026573 | T > C | EPHX1 EPHX1 |
NM_000120.3:c.583T>C NM_001136018.2:c.583T>C |
NP_000111.1:p.Ser195Pro NP_001129490.1:p.Ser195Pro |
25/9939 | 0.00126 | 4 | non_synonymous | Likely Benign |
| View | 1 | 227152761 | 227152761 | C > T | COQ8A |
NM_020247.4:c.238C>T |
NP_064632.2:p.His80Tyr |
31/11422 | 0.00136 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 228345567 | 228345567 | C > T | GJC2 |
NM_020435.3:c.108C>T |
NP_065168.2:p.Ile36= |
79/11422 | 0.00355 | 4 | Likely Benign | |
| View | 1 | 228346652 | 228346652 | C > T | GJC2 |
NM_020435.3:c.1193C>T |
NP_065168.2:p.Thr398Ile |
33/11422 | 0.00149 | 4 | Likely Benign | |
| View | 1 | 231114945 | 231114945 | T > C | ARV1 |
NM_022786.1:c.94T>C |
NP_073623.1:p.Tyr32His |
49/9594 | 0.00255 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 231830012 | 231830012 | C > T | DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 TSNAX-DISC1 |
NM_001164540.1:c.508C>T NM_001164541.1:c.508C>T NM_001164544.1:c.508C>T NM_001164545.1:c.508C>T NM_001164542.1:c.508C>T NM_001164548.1:c.508C>T NM_001164549.1:c.508C>T NM_001164546.1:c.508C>T NM_001164547.1:c.508C>T NR_028400.1:n.1336C>T NM_001164539.1:c.508C>T NM_001012957.1:c.508C>T NM_001012958.1:c.508C>T NM_001012959.1:c.508C>T NM_001164551.1:c.508C>T NM_001164552.1:c.508C>T NM_001164550.1:c.508C>T NM_001164555.1:c.508C>T NM_001164556.1:c.68-55660C>T NM_018662.2:c.508C>T NM_001164553.1:c.508C>T NM_001164554.1:c.508C>T NM_001164538.1:c.508C>T NM_001164537.1:c.508C>T NR_028394.1:n.1357C>T NR_028395.1:n.1357C>T NR_028393.1:n.1229C>T NR_028398.1:n.848C>T NR_028399.1:n.1464C>T NR_028396.1:n.1229C>T NR_028397.1:n.1094C>T |
NP_001158012.1:p.Arg170Cys NP_001158013.1:p.Arg170Cys NP_001158016.1:p.Arg170Cys NP_001158017.1:p.Arg170Cys NP_001158014.1:p.Arg170Cys NP_001158020.1:p.Arg170Cys NP_001158021.1:p.Arg170Cys NP_001158018.1:p.Arg170Cys NP_001158019.1:p.Arg170Cys NP_001158011.1:p.Arg170Cys NP_001012975.1:p.Arg170Cys NP_001012976.1:p.Arg170Cys NP_001012977.1:p.Arg170Cys NP_001158023.1:p.Arg170Cys NP_001158024.1:p.Arg170Cys NP_001158022.1:p.Arg170Cys NP_001158027.1:p.Arg170Cys NP_061132.2:p.Arg170Cys NP_001158025.1:p.Arg170Cys NP_001158026.1:p.Arg170Cys NP_001158010.1:p.Arg170Cys NP_001158009.1:p.Arg170Cys |
29/9594 | 0.00156 | 4 | non_synonymous | Likely Benign |