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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 |
55/5119 | 0.00547 | 4 | non_synonymous | Likely Benign |
| View | 1 | 978974 | 978974 | G > A | AGRN |
NM_198576.3:c.1660G>A |
NP_940978.2:p.Val554Met |
58/5119 | 0.00567 | 4 | non_synonymous | Likely Benign |
| View | 1 | 981942 | 981942 | C > A | AGRN |
NM_198576.3:c.3077C>A |
NP_940978.2:p.Thr1026Asn |
57/5119 | 0.00557 | 4 | non_synonymous | Likely Benign |
| View | 1 | 982213 | 982213 | G > C | AGRN |
NM_198576.3:c.3264G>C |
NP_940978.2:p.Leu1088Phe |
93/5119 | 0.00908 | 4 | non_synonymous | Likely Benign |
| View | 1 | 984971 | 984971 | G > A | AGRN |
NM_198576.3:c.4540G>A |
NP_940978.2:p.Ala1514Thr |
101/5119 | 0.00987 | 4 | non_synonymous | Likely Benign |
| View | 1 | 1273790 | 1273790 | T > C | DVL1 |
NM_004421.2:c.1291A>G |
NP_004412.2:p.Thr431Ala |
35/5119 | 0.00342 | 4 | non_synonymous | Likely Benign |
| View | 1 | 1277040 | 1277041 | CA > - | DVL1 |
NM_004421.2:c.605+6_605+7del |
18/5119 | 0.00176 | 3 | five_prime_flank | Likely Benign | |
| View | 1 | 2234791 | 2234791 | C > T | SKI |
NM_003036.3:c.1163C>T |
NP_003027.1:p.Ala388Val |
64/5119 | 0.00625 | 1 | Likely Benign | |
| View | 1 | 2234824 | 2234824 | C > T | SKI |
NM_003036.3:c.1196C>T |
NP_003027.1:p.Ala399Val |
5/5119 | 0.00049 | 4 | non_synonymous | 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 |
21/6913 | 0.00159 | 4 | non_synonymous | Likely Benign |
| View | 1 | 5935064 | 5935064 | T > C | NPHP4 |
NM_015102.3:c.2914A>G |
NP_055917.1:p.Ser972Gly |
33/6913 | 0.00239 | 4 | Likely Benign | |
| View | 1 | 5965750 | 5965750 | G > C | NPHP4 |
NM_015102.3:c.1705C>G |
NP_055917.1:p.Gln569Glu |
20/6913 | 0.00145 | 4 | Likely Benign | |
| View | 1 | 6027365 | 6027365 | C > T | NPHP4 |
NM_015102.3:c.511G>A |
NP_055917.1:p.Ala171Thr |
18/6913 | 0.0013 | 4 | Likely Benign | |
| View | 1 | 6504654 | 6504654 | T > G | ESPN |
NM_031475.2:c.1104T>G |
NP_113663.2:p.Phe368Leu |
6/5119 | 0.00059 | 4 | non_synonymous | Likely Benign |
| View | 1 | 7724562 | 7724562 | C > T | CAMTA1 |
NM_015215.2:c.1955C>T |
NP_056030.1:p.Ser652Leu |
33/5119 | 0.00332 | 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 |
11/5119 | 0.00107 | 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 |
44/5119 | 0.0043 | 4 | non_synonymous | Likely Benign |
| View | 1 | 10436626 | 10436626 | C > T | KIF1B |
NM_015074.3:c.5294C>T |
NP_055889.2:p.Pro1765Leu |
35/5119 | 0.00342 | 4 | non_synonymous | Likely Benign |
| View | 1 | 17355075 | 17355075 | A > T | TRNAN-GUU SDHB |
NM_003000.2:c.423+20T>A |
33/5101 | 0.00333 | 4 | Likely Benign | ||
| View | 1 | 17371286 | 17371286 | T > C | TRNAN-GUU SDHB |
NM_003000.2:c.170A>G |
NP_002991.2:p.His57Arg |
7/5119 | 0.00068 | 4 | Likely Benign | |
| View | 1 | 19566858 | 19566858 | G > A | EMC1 TRNAN-GUU |
NM_001271427.1:c.719C>T NM_015047.2:c.719C>T NM_001271428.1:c.719C>T NM_001271429.1:c.653C>T |
NP_001258356.1:p.Pro240Leu NP_055862.1:p.Pro240Leu NP_001258357.1:p.Pro240Leu NP_001258358.1:p.Pro218Leu |
21/5119 | 0.00205 | 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 |
6/6913 | 0.00043 | 4 | non_synonymous | Likely Benign |
| View | 1 | 22161190 | 22161190 | C > T | HSPG2 TRNAN-GUU |
NM_005529.5:c.10702G>A |
NP_005520.4:p.Val3568Ile |
37/6913 | 0.00275 | 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 |
47/6913 | 0.0034 | 4 | non_synonymous | Likely Benign |
| View | 1 | 24019079 | 24019079 | G > T | RPL11 TRNAN-GUU |
NM_000975.3:c.7-20G>T NM_001199802.1:c.7-23G>T |
48/5101 | 0.0047 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 24181041 | 24181041 | C > T | TRNAN-GUU FUCA1 |
NM_000147.4:c.778G>A |
NP_000138.2:p.Val260Ile |
11/6913 | 0.0008 | 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 |
143/6913 | 0.01085 | 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 |
21/5119 | 0.00225 | 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 |
33/5119 | 0.00332 | 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 |
4/5119 | 0.00039 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27105700 | 27105700 | C > T | ARID1A TRNAN-GUU |
NM_006015.4:c.5311C>T NM_139135.2:c.4660C>T |
NP_006006.3:p.Pro1771Ser NP_624361.1:p.Pro1554Ser |
1/5119 | 0.0001 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27106106 | 27106106 | G > A | TRNAN-GUU ARID1A |
NM_006015.4:c.5717G>A NM_139135.2:c.5066G>A |
NP_006006.3:p.Arg1906Gln NP_624361.1:p.Arg1689Gln |
28/5119 | 0.00273 | 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 |
18/5119 | 0.00176 | 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 |
99/5119 | 0.00977 | 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 |
60/5119 | 0.00586 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27877816 | 27877816 | G > C | TRNAN-GUU AHDC1 |
NM_001029882.2:c.811C>G |
NP_001025053.1:p.Pro271Ala |
6/5119 | 0.00059 | 3 | non_synonymous | Likely Benign |
| View | 1 | 27878341 | 27878341 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.286C>T |
NP_001025053.1:p.Arg96Cys |
3/5119 | 0.00029 | 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 |
85/5119 | 0.0085 | 4 | non_synonymous | Likely Benign |
| View | 1 | 40546065 | 40546065 | T > C | PPT1 TRNAN-GUU |
NM_001142604.1:c.318+4A>G NM_000310.3:c.627+4A>G |
8/6913 | 0.00065 | 4 | five_prime_flank | Likely Benign | |
| View | 1 | 43896217 | 43896217 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.4360G>A |
NP_056099.3:p.Val1454Ile |
55/5119 | 0.00537 | 4 | non_synonymous | Likely Benign |
| View | 1 | 43900858 | 43900858 | C > G | SZT2 TRNAN-GUU |
NM_015284.3:c.5734-13C>G |
3/5101 | 0.00029 | 4 | polypyrimidine_tract | Likely Benign | |
| View | 1 | 43907225 | 43907225 | T > C | TRNAN-GUU SZT2 |
NM_015284.3:c.7391T>C |
NP_056099.3:p.Val2464Ala |
66/5119 | 0.00664 | 4 | non_synonymous | Likely Benign |
| View | 1 | 45345481 | 45345481 | T > C | EIF2B3 TRNAN-GUU |
NM_001261418.1:c.975+9A>G NM_001166588.2:c.975+9A>G NM_020365.4:c.975+9A>G |
31/5119 | 0.00303 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 45808982 | 45808982 | G > A | TOE1 TRNAN-GUU |
NM_025077.3:c.1141G>A |
NP_079353.3:p.Glu381Lys |
14/5101 | 0.00137 | 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 |
35/5119 | 0.00352 | 4 | non_synonymous | Likely Benign |
| View | 1 | 47746675 | 47746675 | C > G | TRNAN-GUU STIL |
NM_001048166.1:c.1455G>C NM_003035.2:c.1455G>C |
NP_001041631.1:p.Leu485Phe NP_003026.2:p.Leu485Phe |
35/5119 | 0.00342 | 4 | 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 |
10/5119 | 0.00098 | 3 | non_synonymous | Likely Benign |
| View | 1 | 47767215 | 47767215 | G > A | STIL TRNAN-GUU |
NM_001048166.1:c.453+18C>T NM_003035.2:c.453+18C>T |
38/5101 | 0.00382 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 52867839 | 52867839 | C > G | ORC1 TRNAN-GUU |
NM_001190819.1:c.57G>C NM_001190818.1:c.57G>C NM_004153.3:c.57G>C |
NP_001177748.1:p.Arg19Ser NP_001177747.1:p.Arg19Ser NP_004144.2:p.Arg19Ser |
88/5119 | 0.00879 | 4 | non_synonymous | Likely Benign |
| View | 1 | 61872217 | 61872218 | CC > - | TRNAN-GUU NFIA |
NM_001145511.1:c.1231-6_1231-5del NM_005595.4:c.1255-6_1255-5del NM_001145512.1:c.1390-6_1390-5del NM_001134673.3:c.1255-6_1255-5del |
22/5101 | 0.00225 | 4 | three_prime_flank | Likely Benign |