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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 | 977028 | 977028 | G > T | AGRN |
NM_198576.3:c.1123G>T |
NP_940978.2:p.Ala375Ser |
48/4281 | 0.00572 | 4 | non_synonymous | Likely Benign |
| View | 1 | 982213 | 982213 | G > C | AGRN |
NM_198576.3:c.3264G>C |
NP_940978.2:p.Leu1088Phe |
81/4281 | 0.00946 | 4 | non_synonymous | Likely Benign |
| View | 1 | 1277040 | 1277041 | CA > - | DVL1 |
NM_004421.2:c.605+6_605+7del |
10/4281 | 0.00117 | 3 | five_prime_flank | Likely Benign | |
| View | 1 | 2234791 | 2234791 | C > T | SKI |
NM_003036.3:c.1163C>T |
NP_003027.1:p.Ala388Val |
57/4281 | 0.00666 | 1 | Likely Benign | |
| View | 1 | 2338250 | 2338250 | C > G | PEX10 |
NM_153818.1:c.745G>C NM_002617.3:c.685G>C |
NP_722540.1:p.Val249Leu NP_002608.1:p.Val229Leu |
20/6075 | 0.00173 | 3 | non_synonymous | Likely Benign |
| View | 1 | 5935064 | 5935064 | T > C | NPHP4 |
NM_015102.3:c.2914A>G |
NP_055917.1:p.Ser972Gly |
26/6075 | 0.00214 | 4 | Likely Benign | |
| View | 1 | 5965750 | 5965750 | G > C | NPHP4 |
NM_015102.3:c.1705C>G |
NP_055917.1:p.Gln569Glu |
18/6075 | 0.00148 | 4 | Likely Benign | |
| View | 1 | 6027365 | 6027365 | C > T | NPHP4 |
NM_015102.3:c.511G>A |
NP_055917.1:p.Ala171Thr |
16/6075 | 0.00132 | 4 | Likely Benign | |
| View | 1 | 6504654 | 6504654 | T > G | ESPN |
NM_031475.2:c.1104T>G |
NP_113663.2:p.Phe368Leu |
6/4281 | 0.0007 | 4 | non_synonymous | Likely Benign |
| View | 1 | 7724562 | 7724562 | C > T | CAMTA1 |
NM_015215.2:c.1955C>T |
NP_056030.1:p.Ser652Leu |
25/4281 | 0.00304 | 4 | non_synonymous | Likely Benign |
| View | 1 | 8421875 | 8421875 | G > A | RERE |
NM_001042682.1:c.302C>T NM_012102.3:c.1964C>T NM_001042681.1:c.1964C>T |
NP_001036147.1:p.Ala101Val NP_036234.3:p.Ala655Val NP_001036146.1:p.Ala655Val |
11/4281 | 0.00128 | 4 | non_synonymous | Likely Benign |
| View | 1 | 10364260 | 10364260 | A > G | KIF1B |
NM_183416.3:c.3017A>G NM_015074.3:c.1977+6956A>G |
NP_904325.2:p.Glu1006Gly |
38/4281 | 0.00444 | 4 | non_synonymous | Likely Benign |
| View | 1 | 22155561 | 22155561 | G > C | TRNAN-GUU HSPG2 |
NM_005529.5:c.12004C>G |
NP_005520.4:p.Leu4002Val |
5/6075 | 0.00041 | 4 | non_synonymous | Likely Benign |
| View | 1 | 22166034 | 22166034 | G > A | TRNAN-GUU HSPG2 |
NM_005529.5:c.9719C>T |
NP_005520.4:p.Ala3240Val |
37/6075 | 0.00305 | 4 | non_synonymous | Likely Benign |
| View | 1 | 24181041 | 24181041 | C > T | TRNAN-GUU FUCA1 |
NM_000147.4:c.778G>A |
NP_000138.2:p.Val260Ile |
10/6075 | 0.00082 | 4 | non_synonymous | Likely Benign |
| View | 1 | 24194770 | 24194770 | C > G | TRNAN-GUU FUCA1 |
NM_000147.4:c.7G>C |
NP_000138.2:p.Ala3Pro |
110/6075 | 0.00955 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27023366 | 27023366 | C > T | TRNAN-GUU ARID1A |
NM_006015.4:c.472C>T NM_139135.2:c.472C>T |
NP_006006.3:p.Pro158Ser NP_624361.1:p.Pro158Ser |
19/4281 | 0.00245 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27100181 | 27100182 | - > GCA | TRNAN-GUU ARID1A |
NM_006015.4:c.3999_4001dupGCA NM_139135.2:c.3999_4001dupGCA |
NP_006006.3:p.Gln1334dup NP_624361.1:p.Gln1334dup |
27/4281 | 0.00327 | 4 | in_frame_indel | Likely Benign |
| View | 1 | 27105617 | 27105617 | C > T | TRNAN-GUU ARID1A |
NM_006015.4:c.5228C>T NM_139135.2:c.4577C>T |
NP_006006.3:p.Thr1743Met NP_624361.1:p.Thr1526Met |
4/4281 | 0.00047 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27877117 | 27877117 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1510G>A |
NP_001025053.1:p.Val504Met |
11/4281 | 0.00128 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27877216 | 27877216 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1411G>A |
NP_001025053.1:p.Val471Met |
81/4281 | 0.00958 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27877392 | 27877392 | C > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.1235G>A |
NP_001025053.1:p.Arg412His |
56/4281 | 0.00654 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27878341 | 27878341 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.286C>T |
NP_001025053.1:p.Arg96Cys |
3/4281 | 0.00035 | 4 | non_synonymous | Likely Benign |
| View | 1 | 33478877 | 33478877 | C > T | TRNAN-GUU AK2 |
NM_001625.3:c.625G>A NR_037591.1:n.826G>A NM_013411.4:c.625G>A NM_001199199.1:c.601G>A NR_037592.1:n.826G>A |
NP_001616.1:p.Ala209Thr NP_037543.1:p.Ala209Thr NP_001186128.1:p.Ala201Thr |
66/4281 | 0.00794 | 4 | non_synonymous | Likely Benign |
| View | 1 | 43907225 | 43907225 | T > C | TRNAN-GUU SZT2 |
NM_015284.3:c.7391T>C |
NP_056099.3:p.Val2464Ala |
58/4281 | 0.00701 | 4 | non_synonymous | Likely Benign |
| View | 1 | 47746113 | 47746113 | T > C | TRNAN-GUU STIL |
NM_001048166.1:c.2017A>G NM_003035.2:c.2017A>G |
NP_001041631.1:p.Ser673Gly NP_003026.2:p.Ser673Gly |
28/4281 | 0.00339 | 4 | non_synonymous | Likely Benign |
| View | 1 | 47753301 | 47753301 | C > T | TRNAN-GUU STIL |
NM_001048166.1:c.1055G>A NM_003035.2:c.1055G>A |
NP_001041631.1:p.Arg352His NP_003026.2:p.Arg352His |
10/4281 | 0.00117 | 3 | non_synonymous | Likely Benign |
| View | 1 | 63063616 | 63063616 | C > T | TRNAN-GUU DOCK7 ANGPTL3 |
NM_033407.3:c.1683-11321G>A NM_001272000.1:c.1683-11321G>A NM_001271999.1:c.1683-11321G>A NM_001272001.1:c.1683-11321G>A NM_014495.3:c.379C>T NM_001272002.1:c.1683-11321G>A |
NP_055310.1:p.Leu127Phe |
57/4282 | 0.00677 | 4 | non_synonymous | Likely Benign |
| View | 1 | 63091086 | 63091086 | A > - | DOCK7 TRNAN-GUU |
NM_001272002.1:c.1283-14del NM_001272001.1:c.1283-14del NM_001271999.1:c.1283-14del NM_001272000.1:c.1283-14del NM_033407.3:c.1283-14del |
67/4281 | 0.00794 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 63877667 | 63877667 | A > G | TRNAN-GUU ALG6 |
NM_013339.3:c.751A>G |
NP_037471.2:p.Thr251Ala |
29/6075 | 0.00247 | 4 | non_synonymous | Likely Benign |
| View | 1 | 95538424 | 95538424 | C > T | TRNAN-GUU ALG14 |
NM_144988.3:c.31G>A |
NP_659425.1:p.Ala11Thr |
72/4281 | 0.00841 | 4 | non_synonymous | Likely Benign |
| View | 1 | 98144726 | 98144726 | T > C | TRNAN-GUU DPYD |
ENST00000370192.3:c.775A>G |
ENSP00000359211.3:p.Lys259Glu |
68/6264 | 0.00567 | 4 | Likely Benign | |
| View | 1 | 100382236 | 100382236 | C > G | AGL TRNAN-GUU |
NM_000642.2:c.4430C>G NM_000644.2:c.4430C>G NM_000646.2:c.4382C>G NM_000645.2:c.4379C>G NM_000028.2:c.4430C>G NM_000643.2:c.4430C>G |
NP_000633.2:p.Thr1477Ser NP_000635.2:p.Thr1477Ser NP_000637.2:p.Thr1461Ser NP_000636.2:p.Thr1460Ser NP_000019.2:p.Thr1477Ser NP_000634.2:p.Thr1477Ser |
17/6075 | 0.0014 | 3 | non_synonymous | Likely Benign |
| View | 1 | 100671780 | 100671780 | A > C | DBT TRNAN-GUU |
ENST00000370132.4:c.1281+6T>G |
112/6075 | 0.01004 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 110740918 | 110740918 | A > G | SLC6A17 TRNAN-GUU |
NM_001010898.2:c.2036A>G |
NP_001010898.1:p.Lys679Arg |
44/4281 | 0.00514 | 4 | non_synonymous | Likely Benign |
| View | 1 | 114438448 | 114438448 | T > C | AP4B1 TRNAN-GUU AP4B1-AS1 |
NM_001253852.1:c.1723A>G NM_001253853.1:c.1426A>G NR_037864.1:n.247-2042T>C NM_006594.3:c.1723A>G |
NP_001240781.1:p.Ile575Val NP_001240782.1:p.Ile476Val NP_006585.2:p.Ile575Val |
48/4281 | 0.00561 | 4 | non_synonymous | Likely Benign |
| View | 1 | 120298113 | 120298113 | G > C | TRNAN-GUU HMGCS2 |
NM_001166107.1:c.998C>G NM_005518.3:c.1124C>G |
NP_001159579.1:p.Ser333Cys NP_005509.1:p.Ser375Cys |
1/4281 | 0.00012 | 4 | non_synonymous | Likely Benign |
| View | 1 | 150484844 | 150484844 | A > T | ECM1 |
NM_022664.2:c.725A>T NM_004425.3:c.1100A>T NM_001202858.1:c.1181A>T |
NP_073155.2:p.Asp242Val NP_004416.2:p.Asp367Val NP_001189787.1:p.Asp394Val |
76/4281 | 0.00888 | 3 | non_synonymous | Likely Benign |
| View | 1 | 153784559 | 153784559 | G > A | GATAD2B |
NM_020699.2:c.1469C>T |
NP_065750.1:p.Ala490Val |
70/4281 | 0.00818 | 4 | non_synonymous | Likely Benign |
| View | 1 | 153790569 | 153790569 | G > C | GATAD2B |
NM_020699.2:c.676C>G |
NP_065750.1:p.Pro226Ala |
7/4282 | 0.00093 | 4 | non_synonymous | Likely Benign |
| View | 1 | 154544490 | 154544490 | G > C | CHRNB2 |
NM_000748.2:c.1191G>C |
NP_000739.1:p.Gln397His |
75/4281 | 0.00911 | 4 | non_synonymous | Likely Benign |
| View | 1 | 154570903 | 154570903 | T > C | ADAR |
NM_001025107.2:c.875A>G ENST00000529168.1:c.1745A>G ENST00000368474.4:c.1760A>G NM_001193495.1:c.875A>G |
NP_001020278.1:p.Tyr292Cys ENSP00000431794.1:p.Tyr582Cys ENSP00000357459.4:p.Tyr587Cys NP_001180424.1:p.Tyr292Cys |
18/4281 | 0.0021 | 4 | non_synonymous | Likely Benign |
| View | 1 | 154901525 | 154901525 | A > G | PMVK |
NM_006556.3:c.287T>C |
NP_006547.1:p.Val96Ala |
43/4281 | 0.00502 | 4 | non_synonymous | Likely Benign |
| View | 1 | 155206037 | 155206037 | G > A | GBA |
NM_001005742.2:c.1223C>T NM_001171812.1:c.1076C>T NM_000157.3:c.1223C>T NM_001171811.1:c.962C>T NM_001005741.2:c.1223C>T |
NP_001005742.1:p.Thr408Met NP_001165283.1:p.Thr359Met NP_000148.2:p.Thr408Met NP_001165282.1:p.Thr321Met NP_001005741.1:p.Thr408Met |
57/6075 | 0.00469 | 4 | Likely Benign | |
| View | 1 | 156100408 | 156100408 | C > T | LMNA |
NM_170707.3:c.357C>T NR_047544.1:n.998C>T NM_001257374.1:c.21C>T NR_047545.1:n.245C>T NM_170708.3:c.357C>T NM_005572.3:c.357C>T |
NM_170707.3:c.357C>T(p.%3D) NM_001257374.1:c.21C>T(p.%3D) NM_170708.3:c.357C>T(p.%3D) NM_005572.3:c.357C>T(p.%3D) |
30/4934 | 0.00314 | 4 | Likely Benign | |
| View | 1 | 156851382 | 156851382 | G > A | 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 |
90/6075 | 0.00749 | 4 | Likely Benign | |
| View | 1 | 158587368 | 158587368 | T > C | SPTA1 |
NM_003126.2:c.6559A>G |
NP_003117.2:p.Lys2187Glu |
20/4281 | 0.00234 | 4 | non_synonymous | Likely Benign |
| View | 1 | 160090708 | 160090708 | T > A | ATP1A2 |
NM_000702.3:c.25T>A |
NP_000693.1:p.Tyr9Asn |
34/4281 | 0.00397 | 4 | Likely Benign | |
| View | 1 | 160249362 | 160249362 | A > G | PEX19 |
NR_036492.1:n.796T>C NR_036493.1:n.820T>C NM_001193644.1:c.827T>C NM_002857.3:c.879T>C |
NP_001180573.1:p.Val276Ala NM_002857.3:c.879T>C(p.%3D) |
43/4282 | 0.00514 | 4 | non_synonymous | Likely Benign |
| View | 1 | 161180482 | 161180482 | G > A | NDUFS2 |
NM_001166159.1:c.968G>A NM_004550.4:c.968G>A |
NP_001159631.1:p.Arg323Gln NP_004541.1:p.Arg323Gln |
42/4281 | 0.00514 | 4 | Likely Benign |