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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 |
100/9594 | 0.00532 | 4 | non_synonymous | Likely Benign |
| View | 1 | 978974 | 978974 | G > A | AGRN |
NM_198576.3:c.1660G>A |
NP_940978.2:p.Val554Met |
93/9594 | 0.00485 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 981942 | 981942 | C > A | AGRN |
NM_198576.3:c.3077C>A |
NP_940978.2:p.Thr1026Asn |
92/9594 | 0.00479 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 982213 | 982213 | G > C | AGRN |
NM_198576.3:c.3264G>C |
NP_940978.2:p.Leu1088Phe |
187/9594 | 0.00975 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 984971 | 984971 | G > A | AGRN |
NM_198576.3:c.4540G>A |
NP_940978.2:p.Ala1514Thr |
191/9594 | 0.00995 | 4 | non_synonymous | Likely Benign |
| View | 1 | 1273790 | 1273790 | T > C | DVL1 |
NM_004421.2:c.1291A>G |
NP_004412.2:p.Thr431Ala |
61/9594 | 0.00318 | 4 | non_synonymous | Likely Benign |
| View | 1 | 1277040 | 1277041 | CA > - | DVL1 |
NM_004421.2:c.605+6_605+7del |
33/9594 | 0.00172 | 3 | five_prime_flank | Likely Benign | |
| View | 1 | 1961512 | 1961512 | C > T | GABRD |
NM_000815.4:c.1150C>T |
NP_000806.2:p.Pro384Ser |
13/9594 | 0.00068 | 4 | non_synonymous | Likely Benign |
| View | 1 | 2234791 | 2234791 | C > T | SKI |
NM_003036.3:c.1163C>T |
NP_003027.1:p.Ala388Val |
113/9594 | 0.00589 | 4 | Likely Benign | |
| View | 1 | 2234824 | 2234824 | C > T | SKI |
NM_003036.3:c.1196C>T |
NP_003027.1:p.Ala399Val |
9/9594 | 0.00047 | 4 | non_synonymous | 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 |
50/11422 | 0.00228 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | 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 |
35/9594 | 0.00182 | 4 | non_synonymous | Likely Benign |
| View | 1 | 5935064 | 5935064 | T > C | NPHP4 |
NM_015102.3:c.2914A>G |
NP_055917.1:p.Ser972Gly |
55/11422 | 0.00241 | 4 | Likely Benign | |
| View | 1 | 5965750 | 5965750 | G > C | NPHP4 |
NM_015102.3:c.1705C>G |
NP_055917.1:p.Gln569Glu |
32/11422 | 0.0014 | 4 | Likely Benign | |
| View | 1 | 6027365 | 6027365 | C > T | NPHP4 |
NM_015102.3:c.511G>A |
NP_055917.1:p.Ala171Thr |
32/11422 | 0.0014 | 4 | Likely Benign | |
| View | 1 | 6504654 | 6504654 | T > G | ESPN |
NM_031475.2:c.1104T>G |
NP_113663.2:p.Phe368Leu |
19/9594 | 0.00099 | 4 | non_synonymous | Likely Benign |
| View | 1 | 7724562 | 7724562 | C > T | CAMTA1 |
NM_015215.2:c.1955C>T |
NP_056030.1:p.Ser652Leu |
46/9594 | 0.00245 | 4 | non_synonymous | Likely Benign |
| View | 1 | 7792679 | 7792679 | C > T | CAMTA1 |
NM_015215.2:c.3066+20C>T |
20/9555 | 0.00105 | 4 | five_prime_intronic | 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 |
45/9594 | 0.00235 | 4 | non_synonymous | 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 |
3/9555 | 0.00016 | 4 | three_prime_flank | 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 |
7/9594 | 0.00036 | 4 | non_synonymous | 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 |
15/9594 | 0.00078 | 4 | non_synonymous | Likely Benign |
| View | 1 | 8568666 | 8568666 | G > A | RERE RERE |
NM_012102.3:c.879+20C>T NM_001042681.1:c.879+20C>T |
68/9555 | 0.00361 | 4 | Common ExAC MAF original cat: TYPE_3 - five_prime_intronic | 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 |
15/9594 | 0.00078 | 4 | non_synonymous | 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 |
11/9594 | 0.00057 | 4 | in_frame_indel | Likely Benign |
| View | 1 | 10032249 | 10032249 | A > G | NMNAT1 |
NM_022787.3:c.115+3A>G |
108/9594 | 0.00578 | 4 | 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 |
84/9594 | 0.00438 | 4 | non_synonymous | Likely Benign |
| View | 1 | 10436626 | 10436626 | C > T | KIF1B |
NM_015074.3:c.5294C>T |
NP_055889.2:p.Pro1765Leu |
91/9594 | 0.00474 | 4 | non_synonymous | 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 |
128/9594 | 0.00672 | 4 | Likely Benign | |
| View | 1 | 11291348 | 11291348 | G > A | MTOR |
NM_004958.3:c.2649+9C>T |
16/9594 | 0.00083 | 4 | five_prime_intronic | 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 |
44/9594 | 0.00229 | 4 | Likely Benign | |
| View | 1 | 17355075 | 17355075 | A > T | SDHB TRNAN-GUU |
NM_003000.2:c.423+20T>A |
52/9555 | 0.00277 | 4 | Likely Benign | ||
| View | 1 | 17371286 | 17371286 | T > C | SDHB TRNAN-GUU |
NM_003000.2:c.170A>G |
NP_002991.2:p.His57Arg |
17/9594 | 0.00089 | 4 | 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 |
37/9594 | 0.00193 | 4 | non_synonymous | 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 |
136/9556 | 0.00712 | 4 | three_prime_flank | 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 |
95/9594 | 0.00495 | 4 | non_synonymous | 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 |
56/11422 | 0.00245 | 4 | Likely Benign | |
| View | 1 | 22155561 | 22155561 | G > C | TRNAN-GUU HSPG2 |
NM_005529.5:c.12004C>G |
NP_005520.4:p.Leu4002Val |
19/11422 | 0.00083 | 4 | non_synonymous | Likely Benign |
| View | 1 | 22161190 | 22161190 | C > T | TRNAN-GUU HSPG2 |
NM_005529.5:c.10702G>A |
NP_005520.4:p.Val3568Ile |
73/11422 | 0.00324 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 22161394 | 22161394 | C > T | TRNAN-GUU HSPG2 |
NM_005529.5:c.10498G>A |
NP_005520.4:p.Val3500Met |
99/11422 | 0.00438 | 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 |
79/11422 | 0.00346 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 22205601 | 22205601 | T > C | TRNAN-GUU HSPG2 |
NM_005529.5:c.2357A>G |
NP_005520.4:p.Asn786Ser |
102/11422 | 0.00447 | 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 |
73/9555 | 0.00382 | 4 | three_prime_flank | Likely Benign | |
| View | 1 | 24123348 | 24123348 | C > T | GALE TRNAN-GUU GALE GALE |
NM_001008216.1:c.709+18G>A NM_000403.3:c.709+18G>A NM_001127621.1:c.709+18G>A |
40/9555 | 0.00215 | 4 | five_prime_intronic | Likely Benign | |
| View | 1 | 24181041 | 24181041 | C > T | TRNAN-GUU FUCA1 |
NM_000147.4:c.778G>A |
NP_000138.2:p.Val260Ile |
16/11422 | 0.0007 | 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 |
261/11422 | 0.01186 | 4 | non_synonymous | Likely Benign |
| View | 1 | 24687371 | 24687371 | C > T | STPG1 STPG1 STPG1 GRHL3 TRNAN-GUU STPG1 |
NM_001199013.1:c.898G>A NM_001199012.1:c.898G>A NM_178122.4:c.757G>A NM_198174.2:c.1695-3304C>T NM_001199014.1:c.622G>A |
NP_001185942.1:p.Ala300Thr NP_001185941.1:p.Ala300Thr NP_835223.1:p.Ala253Thr NP_001185943.1:p.Ala208Thr |
113/9555 | 0.00602 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27023366 | 27023366 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.472C>T NM_006015.4:c.472C>T |
NP_624361.1:p.Pro158Ser NP_006006.3:p.Pro158Ser |
36/9594 | 0.00198 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27023759 | 27023759 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.865C>T NM_006015.4:c.865C>T |
NP_624361.1:p.Pro289Ser NP_006006.3:p.Pro289Ser |
4/9594 | 0.00021 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27087500 | 27087500 | A > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.2074A>G NM_006015.4:c.2074A>G |
NP_624361.1:p.Ile692Val NP_006006.3:p.Ile692Val |
4/9594 | 0.00021 | 4 | Likely Benign |