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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 | 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 |
71/5120 | 0.00703 | 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 |
74/5101 | 0.00735 | 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 |
33/6913 | 0.00246 | 4 | non_synonymous | Likely Benign |
| View | 1 | 65855298 | 65855298 | C > T | DNAJC6 TRNAN-GUU |
NM_001256864.1:c.1456C>T NM_001256865.1:c.1246C>T NM_014787.3:c.1285C>T |
NP_001243793.1:p.Leu486Phe NP_001243794.1:p.Leu416Phe NP_055602.1:p.Leu429Phe |
25/5119 | 0.00244 | 4 | non_synonymous | Likely Benign |
| View | 1 | 93303114 | 93303114 | A > G | TRNAN-GUU FAM69A RPL5 |
NM_001252273.1:c.475-4523T>C NM_000969.3:c.629A>G |
NP_000960.2:p.Tyr210Cys |
78/5119 | 0.00762 | 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 |
88/5119 | 0.0086 | 4 | non_synonymous | Likely Benign |
| View | 1 | 98144726 | 98144726 | T > C | TRNAN-GUU DPYD |
ENST00000370192.3:c.775A>G |
ENSP00000359211.3:p.Lys259Glu |
88/7192 | 0.00633 | 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 |
23/6913 | 0.00166 | 3 | non_synonymous | Likely Benign |
| View | 1 | 100671780 | 100671780 | A > C | DBT TRNAN-GUU |
ENST00000370132.4:c.1281+6T>G |
141/6913 | 0.01099 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 103544374 | 103544374 | C > G | COL11A1 TRNAN-GUU |
NM_001190709.1:c.328G>C NM_080629.2:c.328G>C NM_080630.3:c.328G>C NM_001854.3:c.328G>C |
NP_001177638.1:p.Gly110Arg NP_542196.2:p.Gly110Arg NP_542197.3:p.Gly110Arg NP_001845.3:p.Gly110Arg |
10/5119 | 0.00098 | 4 | non_synonymous | Likely Benign |
| View | 1 | 109472327 | 109472327 | C > T | CLCC1 GPSM2 TRNAN-GUU |
NM_015127.4:c.*2842G>A NM_001048210.2:c.*2842G>A NM_001278203.1:c.*2842G>A NM_013296.4:c.1820C>T NM_001278202.1:c.*2842G>A |
NP_037428.3:p.Ser607Phe |
20/5119 | 0.00195 | 4 | non_synonymous | Likely Benign |
| View | 1 | 110740918 | 110740918 | A > G | SLC6A17 TRNAN-GUU |
NM_001010898.2:c.2036A>G |
NP_001010898.1:p.Lys679Arg |
53/5119 | 0.00518 | 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 |
55/5119 | 0.00537 | 4 | non_synonymous | Likely Benign |
| View | 1 | 114445358 | 114445358 | T > C | AP4B1 TRNAN-GUU |
NM_006594.3:c.240A>G NM_001253853.1:c.-56-2A>G NM_001253852.1:c.240A>G |
NM_006594.3:c.240A>G(p.%3D) NM_001253852.1:c.240A>G(p.%3D) |
24/5120 | 0.00244 | 4 | acceptor_site | Likely Benign |
| View | 1 | 115226990 | 115226991 | - > A | AMPD1 TRNAN-GUU |
NM_001172626.1:c.469-6dupT NM_000036.2:c.481-6dupT |
93/5119 | 0.00908 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 116206351 | 116206351 | A > G | VANGL1 TRNAN-GUU |
NM_001172412.1:c.274A>G NM_138959.2:c.274A>G NM_001172411.1:c.268A>G |
NP_001165883.1:p.Ile92Val NP_620409.1:p.Ile92Val NP_001165882.1:p.Ile90Val |
12/5119 | 0.00117 | 4 | non_synonymous | Likely Benign |
| View | 1 | 116206400 | 116206400 | A > G | VANGL1 TRNAN-GUU |
NM_001172412.1:c.323A>G NM_138959.2:c.323A>G NM_001172411.1:c.317A>G |
NP_001165883.1:p.Lys108Arg NP_620409.1:p.Lys108Arg NP_001165882.1:p.Lys106Arg |
21/5119 | 0.00205 | 4 | non_synonymous | Likely Benign |
| View | 1 | 120269457 | 120269457 | T > C | PHGDH TRNAN-GUU |
NM_006623.3:c.357-17T>C |
23/5101 | 0.00225 | 4 | three_prime_flank | 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 |
1/5119 | 0.0001 | 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 |
87/5119 | 0.0085 | 4 | non_synonymous | Likely Benign |
| View | 1 | 151377422 | 151377422 | A > C | POGZ |
NM_015100.3:c.4089T>G NM_207171.2:c.3930T>G NM_145796.3:c.3804T>G NM_001194937.1:c.4062T>G NM_001194938.1:c.3903T>G |
NP_055915.2:p.His1363Gln NP_997054.1:p.His1310Gln NP_665739.3:p.His1268Gln NP_001181866.1:p.His1354Gln NP_001181867.1:p.His1301Gln |
19/5119 | 0.00186 | 4 | non_synonymous | Likely Benign |
| View | 1 | 152279561 | 152279561 | C > T | FLG |
NM_002016.1:c.7801G>A |
NP_002007.1:p.Asp2601Asn |
23/5101 | 0.00225 | 4 | non_synonymous | Likely Benign |
| View | 1 | 153784559 | 153784559 | G > A | GATAD2B |
NM_020699.2:c.1469C>T |
NP_065750.1:p.Ala490Val |
78/5119 | 0.00762 | 4 | non_synonymous | Likely Benign |
| View | 1 | 153790569 | 153790569 | G > C | GATAD2B |
NM_020699.2:c.676C>G |
NP_065750.1:p.Pro226Ala |
10/5120 | 0.00107 | 4 | non_synonymous | Likely Benign |
| View | 1 | 154544490 | 154544490 | G > C | CHRNB2 |
NM_000748.2:c.1191G>C |
NP_000739.1:p.Gln397His |
98/5119 | 0.00987 | 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 |
25/5119 | 0.00254 | 4 | non_synonymous | Likely Benign |
| View | 1 | 154574115 | 154574115 | T > A | ADAR |
NM_001025107.2:c.118A>T ENST00000529168.1:c.988A>T ENST00000368474.4:c.1003A>T NM_001193495.1:c.118A>T |
NP_001020278.1:p.Ile40Phe ENSP00000431794.1:p.Ile330Phe ENSP00000357459.4:p.Ile335Phe NP_001180424.1:p.Ile40Phe |
15/5119 | 0.00147 | 4 | non_synonymous | Likely Benign |
| View | 1 | 154901525 | 154901525 | A > G | PMVK |
NM_006556.3:c.287T>C |
NP_006547.1:p.Val96Ala |
49/5101 | 0.0048 | 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 |
66/6913 | 0.00477 | 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) |
33/5772 | 0.00295 | 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 |
101/6913 | 0.00738 | 4 | Likely Benign | |
| View | 1 | 158587368 | 158587368 | T > C | SPTA1 |
NM_003126.2:c.6559A>G |
NP_003117.2:p.Lys2187Glu |
25/5119 | 0.00244 | 4 | non_synonymous | Likely Benign |
| View | 1 | 160090708 | 160090708 | T > A | ATP1A2 |
NM_000702.3:c.25T>A |
NP_000693.1:p.Tyr9Asn |
42/5119 | 0.0041 | 4 | Likely Benign | |
| View | 1 | 160093165 | 160093165 | G > A | ATP1A2 |
NM_000702.3:c.340G>A |
NP_000693.1:p.Gly114Ser |
7/5119 | 0.00068 | 4 | non_synonymous | 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) |
60/5120 | 0.00596 | 4 | non_synonymous | Likely Benign |
| View | 1 | 160249857 | 160249857 | T > C | PEX19 |
NM_002857.3:c.771+3A>G NR_036493.1:n.712+3A>G NM_001193644.1:c.771+3A>G NR_036492.1:n.688+3A>G |
50/5119 | 0.00488 | 4 | five_prime_flank | 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 |
43/5119 | 0.0044 | 4 | Likely Benign | |
| View | 1 | 162740180 | 162740180 | C > T | DDR2 |
NM_006182.2:c.1382C>T NM_001014796.1:c.1382C>T |
NP_006173.2:p.Ser461Leu NP_001014796.1:p.Ser461Leu |
14/5119 | 0.00137 | 4 | non_synonymous | Likely Benign |
| View | 1 | 171605387 | 171605387 | T > C | MYOC |
NM_000261.1:c.1193A>G |
NP_000252.1:p.Lys398Arg |
65/5119 | 0.00635 | 4 | Likely Benign | |
| View | 1 | 173823011 | 173823011 | C > A | DARS2 |
NM_018122.4:c.1642C>A |
NP_060592.2:p.Leu548Met |
30/5119 | 0.00293 | 4 | non_synonymous | Likely Benign |
| View | 1 | 193219854 | 193219854 | C > A | CDC73 |
NM_024529.4:c.*12C>A |
27/5101 | 0.00265 | 4 | Likely Benign | ||
| View | 1 | 197059382 | 197059382 | T > C | ASPM |
NM_001206846.1:c.5018A>G NM_018136.4:c.9773A>G |
NP_001193775.1:p.His1673Arg NP_060606.3:p.His3258Arg |
11/5119 | 0.00107 | 4 | non_synonymous | Likely Benign |
| View | 1 | 197070594 | 197070594 | A > G | ASPM |
NM_018136.4:c.7787T>C NM_001206846.1:c.4066-5300T>C |
NP_060606.3:p.Val2596Ala |
26/5119 | 0.00254 | 4 | non_synonymous | Likely Benign |
| View | 1 | 197071654 | 197071654 | C > A | ASPM |
NM_018136.4:c.6727G>T NM_001206846.1:c.4066-6360G>T |
NP_060606.3:p.Val2243Leu |
16/5119 | 0.00156 | 4 | non_synonymous | Likely Benign |
| View | 1 | 197072640 | 197072640 | T > C | ASPM |
NM_018136.4:c.5741A>G NM_001206846.1:c.4066-7346A>G |
NP_060606.3:p.Gln1914Arg |
10/5119 | 0.00098 | 4 | non_synonymous | Likely Benign |
| View | 1 | 197074168 | 197074168 | G > A | ASPM |
NM_018136.4:c.4213C>T NM_001206846.1:c.4066-8874C>T |
NP_060606.3:p.Arg1405Cys |
56/5119 | 0.00557 | 4 | non_synonymous | Likely Benign |
| View | 1 | 197115345 | 197115345 | C > T | ASPM |
NM_001206846.1:c.223G>A NM_018136.4:c.223G>A |
NP_001193775.1:p.Ala75Thr NP_060606.3:p.Ala75Thr |
29/5119 | 0.00283 | 4 | non_synonymous | Likely Benign |
| View | 1 | 200534651 | 200534651 | T > G | KIF14 |
NM_014875.2:c.3808A>C |
NP_055690.1:p.Ser1270Arg |
56/5119 | 0.00547 | 4 | non_synonymous | Likely Benign |
| View | 1 | 201046164 | 201046164 | C > T | CACNA1S |
NM_000069.2:c.1711G>A |
NP_000060.2:p.Val571Ile |
9/5308 | 0.00085 | 3 | non_synonymous | Likely Benign |
| View | 1 | 207780585 | 207780585 | C > A | CR1 |
NM_000651.4:c.5811-11C>A NM_000573.3:c.4461-11C>A |
90/5101 | 0.00892 | 4 | polypyrimidine_tract | Likely Benign |