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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 | 197070594 | 197070594 | A > G | ASPM ASPM |
NM_001206846.1:c.4066-5300T>C NM_018136.4:c.7787T>C |
NP_060606.3:p.Val2596Ala |
47/6955 | 0.00338 | 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 |
24/6955 | 0.00173 | 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 |
14/6955 | 0.00101 | 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 |
69/6955 | 0.00503 | 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 |
44/6955 | 0.00316 | 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 |
70/6955 | 0.00503 | 4 | non_synonymous | Likely Benign |
| View | 1 | 201046058 | 201046058 | C > T | CACNA1S |
NM_000069.2:c.1817G>A |
NP_000060.2:p.Ser606Asn |
120/7144 | 0.0084 | 4 | Likely Benign | |
| View | 1 | 201046164 | 201046164 | C > T | CACNA1S |
NM_000069.2:c.1711G>A |
NP_000060.2:p.Val571Ile |
12/7144 | 0.00084 | 3 | non_synonymous | Likely Benign |
| View | 1 | 201058391 | 201058391 | A > G | CACNA1S |
NM_000069.2:c.895T>C |
NP_000060.2:p.Tyr299His |
39/7144 | 0.00287 | 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 |
2/7144 | 0.00014 | 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 |
186/6917 | 0.02263 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 204378654 | 204378654 | G > C | PPP1R15B |
NM_032833.3:c.1886C>G |
NP_116222.3:p.Ser629Cys |
25/6955 | 0.0018 | 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 |
123/6916 | 0.00896 | 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 |
130/6955 | 0.00942 | 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 |
280/8745 | 0.01607 | 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 |
64/6955 | 0.0046 | 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 |
60/6916 | 0.00455 | 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 |
20/8745 | 0.00114 | 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 |
11/7166 | 0.00077 | 4 | non_synonymous | Likely Benign |
| View | 1 | 227152761 | 227152761 | C > T | COQ8A |
NM_020247.4:c.238C>T |
NP_064632.2:p.His80Tyr |
26/8745 | 0.00149 | 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= |
61/8745 | 0.00354 | 4 | Likely Benign | |
| View | 1 | 228346652 | 228346652 | C > T | GJC2 |
NM_020435.3:c.1193C>T |
NP_065168.2:p.Thr398Ile |
28/8745 | 0.00166 | 4 | Likely Benign | |
| View | 1 | 231114945 | 231114945 | T > C | ARV1 |
NM_022786.1:c.94T>C |
NP_073623.1:p.Tyr32His |
34/6955 | 0.00244 | 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 |
19/6955 | 0.00144 | 4 | non_synonymous | Likely Benign |
| View | 1 | 231902975 | 231902975 | C > T | 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 DISC1 |
NM_001012959.1:c.1358C>T NM_001164540.1:c.1268+17153C>T NM_001164541.1:c.1358C>T NM_001164544.1:c.1358C>T NM_001164545.1:c.1358C>T NM_001164556.1:c.308C>T NM_018662.2:c.1358C>T NM_001164542.1:c.1358C>T NM_001164548.1:c.1358C>T NM_001164549.1:c.1358C>T NM_001164538.1:c.1358C>T NM_001164546.1:c.1358C>T NM_001164537.1:c.1454C>T NM_001164547.1:c.1358C>T NM_001164539.1:c.1358C>T NR_028394.1:n.2207C>T NR_028395.1:n.2207C>T NR_028393.1:n.2079C>T NR_028398.1:n.1698C>T NR_028396.1:n.2079C>T NR_028397.1:n.1944C>T NM_001012957.1:c.1358C>T |
NP_001012977.1:p.Thr453Met NP_001158013.1:p.Thr453Met NP_001158016.1:p.Thr453Met NP_001158017.1:p.Thr453Met NP_001158028.1:p.Thr103Met NP_061132.2:p.Thr453Met NP_001158014.1:p.Thr453Met NP_001158020.1:p.Thr453Met NP_001158021.1:p.Thr453Met NP_001158010.1:p.Thr453Met NP_001158018.1:p.Thr453Met NP_001158009.1:p.Thr485Met NP_001158019.1:p.Thr453Met NP_001158011.1:p.Thr453Met NP_001012975.1:p.Thr453Met |
30/6955 | 0.00216 | 4 | non_synonymous | Likely Benign |
| View | 1 | 235543481 | 235543498 | TGTGTGTGTGTGTGTGTG > - | TBCE TBCE |
NM_001079515.1:c.100+48_100+65del NM_003193.3:c.100+48_100+65del |
189/8706 | 0.0112 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 235600671 | 235600671 | G > C | TBCE TBCE |
NM_001079515.1:c.998G>C NM_003193.3:c.998G>C |
NP_001072983.1:p.Ser333Thr NP_003184.1:p.Ser333Thr |
53/8745 | 0.00309 | 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 |
147/8745 | 0.00846 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 235938329 | 235938329 | A > C | LYST |
NM_000081.3:c.5518T>G |
NP_000072.2:p.Ser1840Ala |
95/8745 | 0.00549 | 4 | non_synonymous | Likely Benign |
| View | 1 | 236889330 | 236889330 | C > T | ACTN2 ACTN2 ACTN2 |
ENST00000542672.1:c.536+10C>T NM_001278344.1:c.-286+10C>T ENST00000366578.4:c.536+10C>T |
16/6955 | 0.00115 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 237730059 | 237730059 | C > T | RYR2 |
NM_001035.2:c.3407C>T |
NP_001026.2:p.Ala1136Val |
125/7144 | 0.00875 | 4 | Likely Benign | |
| View | 1 | 237794847 | 237794847 | G > A | RYR2 |
NM_001035.2:c.6555+6G>A |
10/6955 | 0.00072 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 237893673 | 237893673 | G > T | RYR2 |
NM_001035.2:c.10935+17G>T |
7/6916 | 0.00051 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 237961484 | 237961484 | C > T | RYR2 |
NM_001035.2:c.14090+14C>T |
1/6916 | 7.0e-05 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 240256066 | 240256067 | - > CAG | FMN2 |
NM_020066.4:c.674_676dupAGC |
NP_064450.3:p.Gln225dup |
17/6955 | 0.00122 | 4 | in_frame_indel | Likely Benign |
| View | 1 | 240256761 | 240256761 | T > A | FMN2 |
NM_020066.4:c.1352T>A |
NP_064450.3:p.Leu451Gln |
9/6955 | 0.00065 | 4 | non_synonymous | Likely Benign |
| View | 1 | 240370769 | 240370769 | T > G | FMN2 |
NM_020066.4:c.2657T>G |
NP_064450.3:p.Met886Arg |
78/6955 | 0.00568 | 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 |
32/6955 | 0.0023 | 4 | in_frame_indel | Likely Benign |
| View | 1 | 240370967 | 240370967 | C > G | FMN2 |
NM_020066.4:c.2855C>G |
NP_064450.3:p.Ala952Gly |
74/6955 | 0.00539 | 4 | non_synonymous | Likely Benign |
| View | 1 | 241682970 | 241682970 | G > A | FH |
NM_000143.3:c.53C>T |
NP_000134.2:p.Pro18Leu |
27/8745 | 0.00154 | 4 | non_synonymous | Likely Benign |
| View | 1 | 243493867 | 243493867 | G > A | SDCCAG8 |
NM_006642.3:c.1094G>A |
NP_006633.1:p.Arg365Lys |
7/6955 | 0.0005 | 3 | non_synonymous | Likely Benign |
| View | 1 | 245021294 | 245021294 | A > - | HNRNPU HNRNPU |
NM_031844.2:c.1494+21del NM_004501.3:c.1437+21del |
132/6918 | 0.00983 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 247586658 | 247586658 | G > A | NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 |
ENST00000366497.2:c.403+7G>A ENST00000391827.2:c.403+7G>A ENST00000336119.3:c.403+7G>A ENST00000391828.3:c.403+7G>A ENST00000348069.2:c.403+7G>A |
18/6955 | 0.00129 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | Likely Benign | |
| View | 1 | 247587343 | 247587343 | G > A | NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 |
ENST00000366497.2:c.598G>A ENST00000391827.2:c.598G>A ENST00000336119.3:c.598G>A ENST00000391828.3:c.598G>A ENST00000348069.2:c.598G>A |
ENSP00000355453.2:p.Val200Met ENSP00000375703.2:p.Val200Met ENSP00000337383.3:p.Val200Met ENSP00000375704.3:p.Val200Met ENSP00000294752.3:p.Val200Met |
106/6955 | 0.00762 | 4 | Likely Benign | |
| View | 10 | 12123525 | 12123525 | C > G | DHTKD1 |
ENST00000263035.4:c.209C>G |
ENSP00000263035.4:p.Ala70Gly |
88/6955 | 0.0064 | 4 | non_synonymous | Likely Benign |
| View | 10 | 12129639 | 12129639 | G > T | DHTKD1 |
ENST00000263035.4:c.628G>T |
ENSP00000263035.4:p.Ala210Ser |
54/6955 | 0.00388 | 4 | non_synonymous | Likely Benign |
| View | 10 | 12139874 | 12139874 | C > T | DHTKD1 |
ENST00000263035.4:c.1550C>T |
ENSP00000263035.4:p.Ala517Val |
28/6955 | 0.00201 | 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 |
104/6955 | 0.00762 | 4 | Likely Benign | |
| View | 10 | 14968855 | 14968855 | G > C | DCLRE1C DCLRE1C DCLRE1C DCLRE1C |
NM_022487.2:c.614C>G NM_001033855.1:c.959C>G NM_001033857.1:c.599C>G NM_001033858.1:c.599C>G |
NP_071932.2:p.Ser205Cys NP_001029027.1:p.Ser320Cys NP_001029029.1:p.Ser200Cys NP_001029030.1:p.Ser200Cys |
73/8745 | 0.00429 | 4 | Likely Benign | |
| View | 10 | 14977469 | 14977469 | C > T | DCLRE1C DCLRE1C DCLRE1C DCLRE1C |
NM_022487.2:c.112G>A NM_001033855.1:c.457G>A NM_001033857.1:c.97G>A NM_001033858.1:c.97G>A |
NP_071932.2:p.Gly38Arg NP_001029027.1:p.Gly153Arg NP_001029029.1:p.Gly33Arg NP_001029030.1:p.Gly33Arg |
209/8745 | 0.01212 | 4 | Likely Benign |