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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 |
68/6955 | 0.00496 | 4 | non_synonymous | Likely Benign |
| View | 1 | 978974 | 978974 | G > A | AGRN |
NM_198576.3:c.1660G>A |
NP_940978.2:p.Val554Met |
75/6955 | 0.00539 | 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 |
74/6955 | 0.00532 | 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 |
132/6955 | 0.00949 | 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 |
143/6955 | 0.01028 | 4 | non_synonymous | Likely Benign |
| View | 1 | 1273790 | 1273790 | T > C | DVL1 |
NM_004421.2:c.1291A>G |
NP_004412.2:p.Thr431Ala |
46/6955 | 0.00331 | 4 | non_synonymous | Likely Benign |
| View | 1 | 1277040 | 1277041 | CA > - | DVL1 |
NM_004421.2:c.605+6_605+7del |
22/6955 | 0.00158 | 3 | five_prime_flank | Likely Benign | |
| View | 1 | 2234791 | 2234791 | C > T | SKI |
NM_003036.3:c.1163C>T |
NP_003027.1:p.Ala388Val |
87/6955 | 0.00625 | 4 | Likely Benign | |
| View | 1 | 2234824 | 2234824 | C > T | SKI |
NM_003036.3:c.1196C>T |
NP_003027.1:p.Ala399Val |
7/6955 | 0.0005 | 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 |
33/8745 | 0.00194 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Likely Benign |
| View | 1 | 5935064 | 5935064 | T > C | NPHP4 |
NM_015102.3:c.2914A>G |
NP_055917.1:p.Ser972Gly |
41/8745 | 0.00234 | 4 | Likely Benign | |
| View | 1 | 5965750 | 5965750 | G > C | NPHP4 |
NM_015102.3:c.1705C>G |
NP_055917.1:p.Gln569Glu |
24/8745 | 0.00137 | 4 | Likely Benign | |
| View | 1 | 6027365 | 6027365 | C > T | NPHP4 |
NM_015102.3:c.511G>A |
NP_055917.1:p.Ala171Thr |
24/8745 | 0.00137 | 4 | Likely Benign | |
| View | 1 | 6504654 | 6504654 | T > G | ESPN |
NM_031475.2:c.1104T>G |
NP_113663.2:p.Phe368Leu |
10/6955 | 0.00072 | 4 | non_synonymous | Likely Benign |
| View | 1 | 7724562 | 7724562 | C > T | CAMTA1 |
NM_015215.2:c.1955C>T |
NP_056030.1:p.Ser652Leu |
40/6955 | 0.00295 | 4 | non_synonymous | Likely Benign |
| View | 1 | 7792679 | 7792679 | C > T | CAMTA1 |
NM_015215.2:c.3066+20C>T |
16/6916 | 0.00116 | 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 |
26/6955 | 0.00187 | 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 |
2/6916 | 0.00014 | 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 |
5/6955 | 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 |
12/6955 | 0.00086 | 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 |
50/6916 | 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 |
12/6955 | 0.00086 | 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 |
6/6955 | 0.00043 | 4 | in_frame_indel | 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 |
61/6955 | 0.00439 | 4 | non_synonymous | Likely Benign |
| View | 1 | 10436626 | 10436626 | C > T | KIF1B |
NM_015074.3:c.5294C>T |
NP_055889.2:p.Pro1765Leu |
65/6955 | 0.00467 | 4 | non_synonymous | Likely Benign |
| View | 1 | 17355075 | 17355075 | A > T | SDHB TRNAN-GUU |
NM_003000.2:c.423+20T>A |
40/6916 | 0.00296 | 4 | Likely Benign | ||
| View | 1 | 17371286 | 17371286 | T > C | SDHB TRNAN-GUU |
NM_003000.2:c.170A>G |
NP_002991.2:p.His57Arg |
9/6955 | 0.00065 | 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 |
27/6955 | 0.00194 | 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 |
100/6917 | 0.00723 | 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 |
74/6955 | 0.00532 | 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 |
39/8745 | 0.00223 | 4 | Likely Benign | |
| View | 1 | 22155561 | 22155561 | G > C | TRNAN-GUU HSPG2 |
NM_005529.5:c.12004C>G |
NP_005520.4:p.Leu4002Val |
8/8745 | 0.00046 | 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 |
57/8745 | 0.00332 | 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 |
84/8745 | 0.00486 | 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 |
53/8745 | 0.00303 | 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 |
86/8745 | 0.00492 | 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 |
58/6916 | 0.00419 | 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 |
33/6916 | 0.00239 | 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 |
12/8745 | 0.00069 | 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 |
188/8745 | 0.01126 | 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 |
74/6916 | 0.00535 | 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 |
30/6955 | 0.0023 | 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 |
4/6955 | 0.00029 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27100171 | 27100171 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.3967C>T NM_006015.4:c.3967C>T |
NP_624361.1:p.Arg1323Cys NP_006006.3:p.Arg1323Cys |
2/6955 | 0.00014 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27100181 | 27100182 | - > GCA | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.3999_4001dupGCA NM_006015.4:c.3999_4001dupGCA |
NP_624361.1:p.Gln1334dup NP_006006.3:p.Gln1334dup |
34/6955 | 0.00252 | 4 | in_frame_indel | Likely Benign |
| View | 1 | 27100369 | 27100369 | A > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.4081A>G NM_006015.4:c.4081A>G |
NP_624361.1:p.Met1361Val NP_006006.3:p.Met1361Val |
5/6955 | 0.00036 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27105617 | 27105617 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.4577C>T NM_006015.4:c.5228C>T |
NP_624361.1:p.Thr1526Met NP_006006.3:p.Thr1743Met |
4/6955 | 0.00029 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27105700 | 27105700 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.4660C>T NM_006015.4:c.5311C>T |
NP_624361.1:p.Pro1554Ser NP_006006.3:p.Pro1771Ser |
1/6955 | 7.0e-05 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27106106 | 27106106 | G > A | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.5066G>A NM_006015.4:c.5717G>A |
NP_624361.1:p.Arg1689Gln NP_006006.3:p.Arg1906Gln |
43/6955 | 0.00309 | 4 | non_synonymous | Likely Benign |
| View | 1 | 27121140 | 27121140 | C > T | PIGV TRNAN-GUU PIGV |
NM_001202554.1:c.615C>T NM_017837.3:c.615C>T |
NP_001189483.1:p.Asn205= NP_060307.2:p.Asn205= |
29/6955 | 0.00208 | 4 | Likely Benign |