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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 |
151/13144 | 0.00578 | 4 | curation | Likely Benign |
| View | 1 | 978974 | 978974 | G > A | AGRN |
NM_198576.3:c.1660G>A |
NP_940978.2:p.Val554Met |
121/13144 | 0.00468 | 4 | curation | Likely Benign |
| View | 1 | 981942 | 981942 | C > A | AGRN |
NM_198576.3:c.3077C>A |
NP_940978.2:p.Thr1026Asn |
120/13144 | 0.00464 | 4 | curation | Likely Benign |
| View | 1 | 982213 | 982213 | G > C | AGRN |
NM_198576.3:c.3264G>C |
NP_940978.2:p.Leu1088Phe |
266/13144 | 0.01012 | 4 | curation | Likely Benign |
| View | 1 | 984971 | 984971 | G > A | AGRN |
NM_198576.3:c.4540G>A |
NP_940978.2:p.Ala1514Thr |
243/13144 | 0.00928 | 4 | curation | Likely Benign |
| View | 1 | 1273790 | 1273790 | T > C | DVL1 |
NM_004421.2:c.1291A>G |
NP_004412.2:p.Thr431Ala |
95/13144 | 0.00361 | 4 | curation | Likely Benign |
| View | 1 | 1277040 | 1277041 | CA > - | DVL1 |
NM_004421.2:c.605+6_605+7del |
51/11988 | 0.00217 | 3 | five_prime_flank | Likely Benign | |
| View | 1 | 1961512 | 1961512 | C > T | GABRD |
NM_000815.4:c.1150C>T |
NP_000806.2:p.Pro384Ser |
13/13144 | 0.00049 | 4 | curation | Likely Benign |
| View | 1 | 2234791 | 2234791 | C > T | SKI |
NM_003036.3:c.1163C>T |
NP_003027.1:p.Ala388Val |
159/13144 | 0.00605 | 4 | curation | Likely Benign |
| View | 1 | 2234824 | 2234824 | C > T | SKI |
NM_003036.3:c.1196C>T |
NP_003027.1:p.Ala399Val |
9/13144 | 0.00034 | 4 | curation | Likely Benign |
| View | 1 | 2235785 | 2235785 | G > A | SKI |
NM_003036.3:c.1528G>A |
NP_003027.1:p.Ala510Thr |
5/13144 | 0.00019 | 4 | Likely Benign | |
| View | 1 | 2338250 | 2338250 | C > G | PEX10 PEX10 |
NM_153818.1:c.745G>C NM_002617.3:c.685G>C |
NP_722540.1:p.Val249Leu NP_002608.1:p.Val229Leu |
61/14969 | 0.0021 | 4 | curation | Likely Benign |
| View | 1 | 3329051 | 3329051 | G > A | PRDM16 PRDM16 |
NM_199454.2:c.2290G>A NM_022114.3:c.2290G>A |
NP_955533.2:p.Val764Met NP_071397.3:p.Val764Met |
50/13144 | 0.0019 | 4 | curation | Likely Benign |
| View | 1 | 3329229 | 3329229 | G > C | PRDM16 PRDM16 |
NM_199454.2:c.2468G>C NM_022114.3:c.2468G>C |
NP_955533.2:p.Arg823Pro NP_071397.3:p.Arg823Pro |
95/13144 | 0.00365 | 4 | Likely Benign | |
| View | 1 | 3342326 | 3342326 | G > C | PRDM16 PRDM16 |
NM_199454.2:c.3109+12G>C NM_022114.3:c.3109+12G>C |
34/11944 | 0.00142 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 5935064 | 5935064 | T > C | NPHP4 |
NM_015102.3:c.2914A>G |
NP_055917.1:p.Ser972Gly |
82/14969 | 0.00274 | 4 | curation | Likely Benign |
| View | 1 | 5935096 | 5935096 | C > T | NPHP4 |
NM_015102.3:c.2882G>A |
NP_055917.1:p.Arg961His |
84/14969 | 0.00281 | 4 | curation | Likely Benign |
| View | 1 | 5965750 | 5965750 | G > C | NPHP4 |
NM_015102.3:c.1705C>G |
NP_055917.1:p.Gln569Glu |
36/14969 | 0.0012 | 4 | curation | Likely Benign |
| View | 1 | 6027365 | 6027365 | C > T | NPHP4 |
NM_015102.3:c.511G>A |
NP_055917.1:p.Ala171Thr |
36/14969 | 0.0012 | 4 | curation | Likely Benign |
| View | 1 | 6504654 | 6504654 | T > G | ESPN |
NM_031475.2:c.1104T>G |
NP_113663.2:p.Phe368Leu |
24/13144 | 0.00091 | 4 | curation | Likely Benign |
| View | 1 | 7724562 | 7724562 | C > T | CAMTA1 |
NM_015215.2:c.1955C>T |
NP_056030.1:p.Ser652Leu |
57/13144 | 0.00224 | 4 | curation | Likely Benign |
| View | 1 | 7792679 | 7792679 | C > T | CAMTA1 |
NM_015215.2:c.3066+20C>T |
27/11946 | 0.00113 | 4 | curation | Likely Benign | |
| View | 1 | 8415618 | 8415618 | G > T | RERE RERE RERE |
NM_012102.3:c.4528C>A NM_001042682.1:c.2866C>A NM_001042681.1:c.4528C>A |
NP_036234.3:p.Pro1510Thr NP_001036147.1:p.Pro956Thr NP_001036146.1:p.Pro1510Thr |
55/13144 | 0.00209 | 4 | curation | Likely Benign |
| View | 1 | 8419868 | 8419869 | - > CTCCTT | RERE RERE RERE |
NM_012102.3:c.3568_3573dupAAGGAG NM_001042682.1:c.1906_1911dupAAGGAG NM_001042681.1:c.3568_3573dupAAGGAG |
NP_036234.3:p.Lys1190_Glu1191dup NP_001036147.1:p.Lys636_Glu637dup NP_001036146.1:p.Lys1190_Glu1191dup |
105/13144 | 0.00403 | 4 | curation | Likely Benign |
| View | 1 | 8420065 | 8420065 | C > A | RERE RERE RERE |
NM_012102.3:c.3396-19G>T NM_001042682.1:c.1734-19G>T NM_001042681.1:c.3396-19G>T |
6/11945 | 0.00025 | 4 | curation | Likely Benign | |
| View | 1 | 8421096 | 8421096 | G > A | RERE RERE RERE |
NM_012102.3:c.2471C>T NM_001042682.1:c.809C>T NM_001042681.1:c.2471C>T |
NP_036234.3:p.Pro824Leu NP_001036147.1:p.Pro270Leu NP_001036146.1:p.Pro824Leu |
11/13144 | 0.00042 | 4 | curation | Likely Benign |
| View | 1 | 8421875 | 8421875 | G > A | RERE RERE RERE |
NM_012102.3:c.1964C>T NM_001042682.1:c.302C>T NM_001042681.1:c.1964C>T |
NP_036234.3:p.Ala655Val NP_001036147.1:p.Ala101Val NP_001036146.1:p.Ala655Val |
15/13144 | 0.00057 | 4 | curation | Likely Benign |
| View | 1 | 8568666 | 8568666 | G > A | RERE RERE |
NM_012102.3:c.879+20C>T NM_001042681.1:c.879+20C>T |
90/11950 | 0.00381 | 4 | curation | Likely Benign | |
| View | 1 | 8616562 | 8616562 | C > T | RERE RERE |
NM_012102.3:c.697G>A NM_001042681.1:c.697G>A |
NP_036234.3:p.Val233Ile NP_001036146.1:p.Val233Ile |
19/13144 | 0.00072 | 4 | curation | Likely Benign |
| View | 1 | 8716321 | 8716322 | - > TCTTTG | RERE RERE |
NM_012102.3:c.30_35dupCAAAGA NM_001042681.1:c.30_35dupCAAAGA |
NP_036234.3:p.Asp10_Lys11dup NP_001036146.1:p.Asp10_Lys11dup |
20/13144 | 0.00076 | 4 | curation | Likely Benign |
| View | 1 | 10032249 | 10032249 | A > G | NMNAT1 |
NM_022787.3:c.115+3A>G |
154/11998 | 0.00654 | 4 | curation | Likely Benign | |
| View | 1 | 10364260 | 10364260 | A > G | KIF1B KIF1B |
NM_015074.3:c.1977+6956A>G NM_183416.3:c.3017A>G |
NP_904325.2:p.Glu1006Gly |
117/13144 | 0.00445 | 4 | curation | Likely Benign |
| View | 1 | 10436626 | 10436626 | C > T | KIF1B |
NM_015074.3:c.5294C>T |
NP_055889.2:p.Pro1765Leu |
125/13144 | 0.00479 | 4 | curation | Likely Benign |
| View | 1 | 11105542 | 11105542 | C > T | MASP2 MASP2 |
NM_006610.3:c.467G>A NM_139208.2:c.467G>A |
NP_006601.2:p.Cys156Tyr NP_631947.1:p.Cys156Tyr |
169/13144 | 0.00647 | 4 | curation | Likely Benign |
| View | 1 | 11291348 | 11291348 | G > A | MTOR |
NM_004958.3:c.2649+9C>T |
27/11992 | 0.00113 | 4 | curation | Likely Benign | |
| View | 1 | 11907430 | 11907430 | T > G | NPPA NPPA-AS1 |
NM_006172.3:c.190A>C NR_037806.1:n.1480-61T>G |
NP_006163.1:p.Ser64Arg |
65/13144 | 0.00247 | 4 | curation | Likely Benign |
| View | 1 | 12069692 | 12069692 | G > A | MFN2 MFN2 |
NM_001127660.1:c.2113G>A NM_014874.3:c.2113G>A |
NP_001121132.1:p.Val705Ile NP_055689.1:p.Val705Ile |
75/13144 | 0.00285 | 4 | Likely Benign | |
| View | 1 | 17355075 | 17355075 | A > T | SDHB TRNAN-GUU |
NM_003000.2:c.423+20T>A |
61/11947 | 0.00255 | 4 | curation | Likely Benign | |
| View | 1 | 17371286 | 17371286 | T > C | SDHB TRNAN-GUU |
NM_003000.2:c.170A>G |
NP_002991.2:p.His57Arg |
27/13144 | 0.00103 | 4 | curation | Likely Benign |
| View | 1 | 19566858 | 19566858 | G > A | EMC1 TRNAN-GUU EMC1 EMC1 EMC1 |
NM_015047.2:c.719C>T NM_001271427.1:c.719C>T NM_001271428.1:c.719C>T NM_001271429.1:c.653C>T |
NP_055862.1:p.Pro240Leu NP_001258356.1:p.Pro240Leu NP_001258357.1:p.Pro240Leu NP_001258358.1:p.Pro218Leu |
53/13144 | 0.00202 | 4 | curation | Likely Benign |
| View | 1 | 21554554 | 21554554 | A > C | ECE1 TRNAN-GUU ECE1 ECE1 ECE1 |
NM_001397.2:c.1671-20T>G NM_001113347.1:c.1635-20T>G NM_001113349.1:c.1662-20T>G NM_001113348.1:c.1623-20T>G |
195/11967 | 0.00815 | 4 | curation | Likely Benign | |
| View | 1 | 21564631 | 21564631 | C > T | ECE1 TRNAN-GUU ECE1 ECE1 ECE1 |
NM_001397.2:c.1385G>A NM_001113347.1:c.1349G>A NM_001113349.1:c.1376G>A NM_001113348.1:c.1337G>A |
NP_001388.1:p.Ser462Asn NP_001106818.1:p.Ser450Asn NP_001106820.1:p.Ser459Asn NP_001106819.1:p.Ser446Asn |
125/13144 | 0.00476 | 4 | curation | Likely Benign |
| View | 1 | 21903947 | 21903947 | G > A | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.1381G>A ENST00000539907.1:c.1150G>A ENST00000540617.1:c.1216G>A |
ENSP00000363973.3:p.Val461Ile ENSP00000437674.1:p.Val384Ile ENSP00000442672.1:p.Val406Ile |
72/14969 | 0.0024 | 4 | curation | Likely Benign |
| View | 1 | 22155561 | 22155561 | G > C | TRNAN-GUU HSPG2 |
NM_005529.5:c.12004C>G |
NP_005520.4:p.Leu4002Val |
28/14969 | 0.00094 | 4 | curation | Likely Benign |
| View | 1 | 22161190 | 22161190 | C > T | TRNAN-GUU HSPG2 |
NM_005529.5:c.10702G>A |
NP_005520.4:p.Val3568Ile |
91/14969 | 0.00307 | 4 | curation | Likely Benign |
| View | 1 | 22161394 | 22161394 | C > T | TRNAN-GUU HSPG2 |
NM_005529.5:c.10498G>A |
NP_005520.4:p.Val3500Met |
132/14969 | 0.00444 | 4 | curation | Likely Benign |
| View | 1 | 22166034 | 22166034 | G > A | TRNAN-GUU HSPG2 |
NM_005529.5:c.9719C>T |
NP_005520.4:p.Ala3240Val |
97/14969 | 0.00327 | 4 | curation | Likely Benign |
| View | 1 | 22205601 | 22205601 | T > C | TRNAN-GUU HSPG2 |
NM_005529.5:c.2357A>G |
NP_005520.4:p.Asn786Ser |
142/14969 | 0.00474 | 4 | curation | Likely Benign |
| View | 1 | 23398678 | 23398678 | C > T | TRNAN-GUU KDM1A KDM1A |
NM_015013.3:c.1538C>T NM_001009999.2:c.1610C>T |
NP_055828.2:p.Ala513Val NP_001009999.1:p.Ala537Val |
2/13144 | 8.0e-05 | 4 | non_synonymous | Likely Benign |
| View | 1 | 24019079 | 24019079 | G > T | TRNAN-GUU RPL11 RPL11 |
NM_001199802.1:c.7-23G>T NM_000975.3:c.7-20G>T |
92/11948 | 0.00385 | 4 | curation | Likely Benign |