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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 | 201046164 | 201046164 | C > T | CACNA1S |
NM_000069.2:c.1711G>A |
NP_000060.2:p.Val571Ile |
11/6402 | 0.00086 | 3 | non_synonymous | Likely Benign |
| View | 1 | 201058391 | 201058391 | A > G | CACNA1S |
NM_000069.2:c.895T>C |
NP_000060.2:p.Tyr299His |
38/6402 | 0.00305 | 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 |
2/6402 | 0.00016 | 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 |
40/6175 | 0.00543 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 204378654 | 204378654 | G > C | PPP1R15B |
NM_032833.3:c.1886C>G |
NP_116222.3:p.Ser629Cys |
21/6213 | 0.00169 | 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 |
107/6174 | 0.00875 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 211652382 | 211652382 | T > A | RD3 RD3 |
NM_183059.2:c.584A>T NM_001164688.1:c.584A>T |
NP_898882.1:p.Asp195Val NP_001158160.1:p.Asp195Val |
115/6213 | 0.00934 | 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 |
56/6213 | 0.00451 | 4 | Likely Benign | |
| View | 1 | 220101127 | 220101127 | T > C | SLC30A10 SLC30A10 |
NM_018713.2:c.640+16A>G NR_046437.1:n.851+16A>G |
56/6174 | 0.00478 | 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 |
15/8004 | 0.00094 | 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 |
9/6435 | 0.0007 | 4 | non_synonymous | Likely Benign |
| View | 1 | 227152761 | 227152761 | C > T | COQ8A |
NM_020247.4:c.238C>T |
NP_064632.2:p.His80Tyr |
24/8004 | 0.0015 | 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= |
48/8004 | 0.00306 | 4 | Likely Benign | |
| View | 1 | 228346652 | 228346652 | C > T | GJC2 |
NM_020435.3:c.1193C>T |
NP_065168.2:p.Thr398Ile |
28/8004 | 0.00181 | 4 | Likely Benign | |
| View | 1 | 231114945 | 231114945 | T > C | ARV1 |
NM_022786.1:c.94T>C |
NP_073623.1:p.Tyr32His |
29/6213 | 0.00233 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 231830012 | 231830012 | C > T | TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 DISC1 DISC1 |
NR_028398.1:n.848C>T NM_001164555.1:c.508C>T NM_001164549.1:c.508C>T NM_001164556.1:c.68-55660C>T NM_001164552.1:c.508C>T NM_001164548.1:c.508C>T NM_001164546.1:c.508C>T NM_001164541.1:c.508C>T NM_001164550.1:c.508C>T NR_028399.1:n.1464C>T NM_018662.2:c.508C>T NM_001164538.1:c.508C>T NR_028394.1:n.1357C>T NM_001164551.1:c.508C>T NR_028393.1:n.1229C>T NM_001012958.1:c.508C>T NM_001012957.1:c.508C>T NM_001164547.1:c.508C>T NR_028400.1:n.1336C>T NM_001164542.1:c.508C>T NM_001164537.1:c.508C>T NR_028395.1:n.1357C>T NM_001164540.1:c.508C>T NM_001164539.1:c.508C>T NM_001164545.1:c.508C>T NM_001164554.1:c.508C>T NM_001012959.1:c.508C>T NR_028397.1:n.1094C>T NR_028396.1:n.1229C>T NM_001164544.1:c.508C>T NM_001164553.1:c.508C>T |
NP_001158027.1:p.Arg170Cys NP_001158021.1:p.Arg170Cys NP_001158024.1:p.Arg170Cys NP_001158020.1:p.Arg170Cys NP_001158018.1:p.Arg170Cys NP_001158013.1:p.Arg170Cys NP_001158022.1:p.Arg170Cys NP_061132.2:p.Arg170Cys NP_001158010.1:p.Arg170Cys NP_001158023.1:p.Arg170Cys NP_001012976.1:p.Arg170Cys NP_001012975.1:p.Arg170Cys NP_001158019.1:p.Arg170Cys NP_001158014.1:p.Arg170Cys NP_001158009.1:p.Arg170Cys NP_001158012.1:p.Arg170Cys NP_001158011.1:p.Arg170Cys NP_001158017.1:p.Arg170Cys NP_001158026.1:p.Arg170Cys NP_001012977.1:p.Arg170Cys NP_001158016.1:p.Arg170Cys NP_001158025.1:p.Arg170Cys |
18/6213 | 0.00153 | 4 | non_synonymous | Likely Benign |
| View | 1 | 231902975 | 231902975 | C > T | TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 DISC1 TSNAX-DISC1 TSNAX-DISC1 DISC1 TSNAX-DISC1 DISC1 DISC1 TSNAX-DISC1 DISC1 |
NR_028398.1:n.1698C>T NM_001164542.1:c.1358C>T NM_001164549.1:c.1358C>T NM_001164537.1:c.1454C>T NM_001164556.1:c.308C>T NM_001164548.1:c.1358C>T NR_028395.1:n.2207C>T NM_001164540.1:c.1268+17153C>T NM_001164546.1:c.1358C>T NM_001164539.1:c.1358C>T NM_001164541.1:c.1358C>T NM_018662.2:c.1358C>T NM_001164545.1:c.1358C>T NM_001164538.1:c.1358C>T NR_028394.1:n.2207C>T NR_028393.1:n.2079C>T NM_001012959.1:c.1358C>T NR_028397.1:n.1944C>T NM_001012957.1:c.1358C>T NM_001164547.1:c.1358C>T NR_028396.1:n.2079C>T NM_001164544.1:c.1358C>T |
NP_001158014.1:p.Thr453Met NP_001158021.1:p.Thr453Met NP_001158009.1:p.Thr485Met NP_001158028.1:p.Thr103Met NP_001158020.1:p.Thr453Met NP_001158018.1:p.Thr453Met NP_001158011.1:p.Thr453Met NP_001158013.1:p.Thr453Met NP_061132.2:p.Thr453Met NP_001158017.1:p.Thr453Met NP_001158010.1:p.Thr453Met NP_001012977.1:p.Thr453Met NP_001012975.1:p.Thr453Met NP_001158019.1:p.Thr453Met NP_001158016.1:p.Thr453Met |
28/6213 | 0.00225 | 4 | non_synonymous | Likely Benign |
| View | 1 | 235543481 | 235543498 | TGTGTGTGTGTGTGTGTG > - | TBCE TBCE |
NM_003193.3:c.100+48_100+65del NM_001079515.1:c.100+48_100+65del |
145/7965 | 0.00917 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 235600671 | 235600671 | G > C | TBCE TBCE |
NM_003193.3:c.998G>C NM_001079515.1:c.998G>C |
NP_003184.1:p.Ser333Thr NP_001072983.1:p.Ser333Thr |
45/8004 | 0.00287 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 235840495 | 235840495 | G > T | LYST |
NM_000081.3:c.10941-7C>A |
135/8004 | 0.0085 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 235938329 | 235938329 | A > C | LYST |
NM_000081.3:c.5518T>G |
NP_000072.2:p.Ser1840Ala |
89/8004 | 0.00562 | 4 | non_synonymous | Likely Benign |
| View | 1 | 237730059 | 237730059 | C > T | RYR2 |
NM_001035.2:c.3407C>T |
NP_001026.2:p.Ala1136Val |
112/6402 | 0.00875 | 4 | Likely Benign | |
| View | 1 | 237794847 | 237794847 | G > A | RYR2 |
NM_001035.2:c.6555+6G>A |
9/6213 | 0.00072 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 240256761 | 240256761 | T > A | FMN2 |
NM_020066.4:c.1352T>A |
NP_064450.3:p.Leu451Gln |
8/6213 | 0.00064 | 4 | non_synonymous | Likely Benign |
| View | 1 | 240370769 | 240370769 | T > G | FMN2 |
NM_020066.4:c.2657T>G |
NP_064450.3:p.Met886Arg |
75/6213 | 0.00612 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 240370942 | 240370974 | del > - | FMN2 |
NM_020066.4:c.2830_2862del |
NP_064450.3:p.Ala952_Ala194del |
27/6213 | 0.00217 | 4 | in_frame_indel | Likely Benign |
| View | 1 | 240370967 | 240370967 | C > G | FMN2 |
NM_020066.4:c.2855C>G |
NP_064450.3:p.Ala952Gly |
60/6213 | 0.00491 | 4 | non_synonymous | Likely Benign |
| View | 1 | 243493867 | 243493867 | G > A | SDCCAG8 |
NM_006642.3:c.1094G>A |
NP_006633.1:p.Arg365Lys |
6/6213 | 0.00048 | 3 | non_synonymous | Likely Benign |
| View | 1 | 247586658 | 247586658 | G > A | NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 |
ENST00000391827.2:c.403+7G>A ENST00000366497.2:c.403+7G>A ENST00000348069.2:c.403+7G>A ENST00000391828.3:c.403+7G>A ENST00000336119.3:c.403+7G>A |
18/6213 | 0.00145 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | Likely Benign | |
| View | 1 | 247587343 | 247587343 | G > A | NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 |
ENST00000391827.2:c.598G>A ENST00000366497.2:c.598G>A ENST00000348069.2:c.598G>A ENST00000391828.3:c.598G>A ENST00000336119.3:c.598G>A |
ENSP00000375703.2:p.Val200Met ENSP00000355453.2:p.Val200Met ENSP00000294752.3:p.Val200Met ENSP00000375704.3:p.Val200Met ENSP00000337383.3:p.Val200Met |
98/6213 | 0.00789 | 4 | Likely Benign | |
| View | 10 | 12123525 | 12123525 | C > G | DHTKD1 |
ENST00000263035.4:c.209C>G |
ENSP00000263035.4:p.Ala70Gly |
82/6213 | 0.00668 | 4 | non_synonymous | Likely Benign |
| View | 10 | 12129639 | 12129639 | G > T | DHTKD1 |
ENST00000263035.4:c.628G>T |
ENSP00000263035.4:p.Ala210Ser |
45/6213 | 0.00362 | 4 | non_synonymous | Likely Benign |
| View | 10 | 12139874 | 12139874 | C > T | DHTKD1 |
ENST00000263035.4:c.1550C>T |
ENSP00000263035.4:p.Ala517Val |
28/6213 | 0.00225 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 10 | 13325784 | 13325784 | C > T | PHYH PHYH |
NM_001037537.1:c.434G>A NM_006214.3:c.734G>A |
NP_001032626.1:p.Arg145Gln NP_006205.1:p.Arg245Gln |
95/6213 | 0.00781 | 4 | Likely Benign | |
| View | 10 | 14968855 | 14968855 | G > C | DCLRE1C DCLRE1C DCLRE1C DCLRE1C |
NM_001033858.1:c.599C>G NM_001033857.1:c.599C>G NM_001033855.1:c.959C>G NM_022487.2:c.614C>G |
NP_001029030.1:p.Ser200Cys NP_001029029.1:p.Ser200Cys NP_001029027.1:p.Ser320Cys NP_071932.2:p.Ser205Cys |
63/8004 | 0.00406 | 4 | Likely Benign | |
| View | 10 | 14977469 | 14977469 | C > T | DCLRE1C DCLRE1C DCLRE1C DCLRE1C |
NM_001033858.1:c.97G>A NM_001033857.1:c.97G>A NM_001033855.1:c.457G>A NM_022487.2:c.112G>A |
NP_001029030.1:p.Gly33Arg NP_001029029.1:p.Gly33Arg NP_001029027.1:p.Gly153Arg NP_071932.2:p.Gly38Arg |
192/8004 | 0.01218 | 4 | Likely Benign | |
| View | 10 | 16932454 | 16932454 | C > T | CUBN |
NM_001081.3:c.8671G>A |
NP_001072.2:p.Val2891Ile |
9/6213 | 0.00072 | 4 | non_synonymous | Likely Benign |
| View | 10 | 17085903 | 17085903 | C > G | CUBN |
NM_001081.3:c.3752G>C |
NP_001072.2:p.Ser1251Thr |
22/6213 | 0.00177 | 4 | non_synonymous | Likely Benign |
| View | 10 | 18828181 | 18828181 | C > T | CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 CACNB2 |
NM_201572.3:c.1355C>T NM_201570.2:c.1367C>T NM_201593.2:c.1397C>T NM_201571.3:c.1427C>T NM_201596.2:c.1511C>T NM_201597.2:c.1439C>T NM_001167945.1:c.1313C>T NM_000724.3:c.1346C>T NM_201590.2:c.1349C>T |
NP_963866.2:p.Thr452Ile NP_963864.1:p.Thr456Ile NP_963887.2:p.Thr466Ile NP_963865.2:p.Thr476Ile NP_963890.2:p.Thr504Ile NP_963891.1:p.Thr480Ile NP_001161417.1:p.Thr438Ile NP_000715.2:p.Thr449Ile NP_963884.2:p.Thr450Ile |
39/6402 | 0.00305 | 4 | Likely Benign | |
| View | 10 | 26482160 | 26482160 | A > G | MYO3A |
NM_017433.4:c.4465A>G |
NP_059129.3:p.Ile1489Val |
65/6213 | 0.00523 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 10 | 28822982 | 28822982 | G > T | WAC WAC WAC |
NR_024557.2:n.552+19G>T NM_100486.3:c.78+19G>T NM_016628.4:c.78+19G>T |
70/6174 | 0.00575 | 4 | five_prime_intronic | Likely Benign | |
| View | 10 | 43596033 | 43596033 | G > A | RET RET |
ENST00000340058.5:c.200G>A ENST00000355710.3:c.200G>A |
ENSP00000344798.4:p.Arg67His ENSP00000347942.3:p.Arg67His |
9/6213 | 0.00072 | 4 | Likely Benign | |
| View | 10 | 50667229 | 50667229 | C > T | ERCC6 |
NM_000124.3:c.4114G>A |
NP_000115.1:p.Gly1372Arg |
17/8004 | 0.00106 | 4 | non_synonymous | Likely Benign |
| View | 10 | 50669459 | 50669459 | C > G | ERCC6 |
NM_000124.3:c.3922G>C |
NP_000115.1:p.Val1308Leu |
33/8004 | 0.00206 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 10 | 50678347 | 50678347 | G > A | ERCC6 |
NM_000124.3:c.3659C>T |
NP_000115.1:p.Thr1220Ile |
35/8004 | 0.00219 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 10 | 50678722 | 50678722 | G > C | ERCC6 |
NM_000124.3:c.3284C>G |
NP_000115.1:p.Pro1095Arg |
61/8004 | 0.00406 | 5 | Likely Benign | |
| View | 10 | 50680471 | 50680471 | C > A | ERCC6 |
NM_000124.3:c.2875G>T |
NP_000115.1:p.Val959Leu |
21/8004 | 0.00131 | 4 | non_synonymous | Likely Benign |
| View | 10 | 50732139 | 50732139 | C > T | ERCC6-PGBD3 ERCC6-PGBD3 PGBD3 ERCC6 |
NM_001277059.1:c.1337G>A NM_001277058.1:c.1337G>A NM_170753.3:c.-68G>A NM_000124.3:c.1337G>A |
NP_001263988.1:p.Gly446Asp NP_001263987.1:p.Gly446Asp NP_000115.1:p.Gly446Asp |
172/8004 | 0.01112 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 10 | 50833662 | 50833662 | C > T | CHAT CHAT CHAT CHAT CHAT |
ENST00000339797.1:c.542C>T ENST00000395562.2:c.650C>T ENST00000395559.2:c.542C>T ENST00000337653.2:c.896C>T ENST00000351556.3:c.542C>T |
ENSP00000343486.1:p.Pro181Leu ENSP00000378929.2:p.Pro217Leu ENSP00000378926.2:p.Pro181Leu ENSP00000337103.2:p.Pro299Leu ENSP00000345878.3:p.Pro181Leu |
14/6213 | 0.00113 | 4 | non_synonymous | Likely Benign |
| View | 10 | 50863188 | 50863188 | G > A | CHAT CHAT CHAT CHAT CHAT |
ENST00000339797.1:c.1328G>A ENST00000395562.2:c.1436G>A ENST00000395559.2:c.1328G>A ENST00000337653.2:c.1682G>A ENST00000351556.3:c.1328G>A |
ENSP00000343486.1:p.Arg443Gln ENSP00000378929.2:p.Arg479Gln ENSP00000378926.2:p.Arg443Gln ENSP00000337103.2:p.Arg561Gln ENSP00000345878.3:p.Arg443Gln |
131/6213 | 0.01054 | 4 | non_synonymous | Likely Benign |