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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 | 955596 | 955596 | C > G | AGRN |
NM_198576.3:c.44C>G |
NP_940978.2:p.Pro15Arg |
17/13144 | 0.00065 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 976884 | 976884 | C > T | AGRN |
NM_198576.3:c.979C>T |
NP_940978.2:p.Pro327Ser |
6/13144 | 0.00023 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 981353 | 981353 | C > T | AGRN |
NM_198576.3:c.2690C>T |
NP_940978.2:p.Ala897Val |
72/13144 | 0.00274 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 1168051 | 1168051 | C > G | B3GALT6 |
NM_080605.3:c.393C>G |
NP_542172.2:p.Asn131Lys |
2/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 1271833 | 1271833 | G > A | DVL1 |
NM_004421.2:c.1702C>T |
NP_004412.2:p.Arg568Trp |
4/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 1451437 | 1451437 | C > T | ATAD3A ATAD3A ATAD3A |
NM_001170535.1:c.251C>T NM_001170536.1:c.14C>T NM_018188.3:c.251C>T |
NP_001164006.1:p.Thr84Met NP_001164007.1:p.Thr5Met NP_060658.3:p.Thr84Met |
3/13144 | 0.00011 | 3 | Uncertain Significance | |
| View | 1 | 1960633 | 1960633 | G > A | GABRD |
NM_000815.4:c.775G>A |
NP_000806.2:p.Val259Ile |
11/13144 | 0.00042 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 2235762 | 2235762 | C > T | SKI |
NM_003036.3:c.1505C>T |
NP_003027.1:p.Pro502Leu |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 2238200 | 2238201 | - > GTAGATTCCGT | SKI |
NM_003036.3:c.2185_*8dupTAGATTCCGTG |
2/13144 | 8.0e-05 | 2 | premature_stop | Uncertain Significance | |
| View | 1 | 2338295 | 2338295 | G > A | PEX10 PEX10 |
NM_153818.1:c.700C>T NM_002617.3:c.640C>T |
NP_722540.1:p.Arg234Cys NP_002608.1:p.Arg214Cys |
5/14969 | 0.00017 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 3301830 | 3301830 | A > G | PRDM16 PRDM16 |
NM_199454.2:c.553A>G NM_022114.3:c.553A>G |
NP_955533.2:p.Met185Val NP_071397.3:p.Met185Val |
7/13144 | 0.00027 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 5937254 | 5937254 | G > A | NPHP4 |
NM_015102.3:c.2716C>T |
NP_055917.1:p.Arg906Cys |
9/14969 | 0.0003 | 3 | curation | Uncertain Significance |
| View | 1 | 6529605 | 6529605 | A > G | PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 |
NM_001042663.1:c.2100T>C NM_001042665.1:c.1932T>C NM_001042664.1:c.1932T>C NM_001265593.1:c.2139T>C NM_020631.4:c.1932T>C NM_001265594.1:c.1932T>C NM_001265592.1:c.2169T>C NM_198681.3:c.2163T>C |
NP_001036128.1:p.Pro700= NP_001036130.1:p.Pro644= NP_001036129.1:p.Pro644= NP_001252522.1:p.Pro713= NP_065682.2:p.Pro644= NP_001252523.1:p.Pro644= NP_001252521.1:p.Pro723= NP_941374.2:p.Pro721= |
11/14969 | 0.00037 | 3 | five_prime_exonic | Uncertain Significance |
| View | 1 | 8384425 | 8384425 | T > G | SLC45A1 |
NM_001080397.1:c.36T>G |
NP_001073866.1:p.Asp12Glu |
2/13105 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 8384555 | 8384555 | A > G | SLC45A1 |
NM_001080397.1:c.166A>G |
NP_001073866.1:p.Ile56Val |
1/13105 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 8384717 | 8384717 | C > T | SLC45A1 |
NM_001080397.1:c.328C>T |
NP_001073866.1:p.Pro110Ser |
1/13105 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 8420319 | 8420319 | C > A | RERE RERE RERE |
NM_012102.3:c.3248G>T NM_001042682.1:c.1586G>T NM_001042681.1:c.3248G>T |
NP_036234.3:p.Gly1083Val NP_001036147.1:p.Gly529Val NP_001036146.1:p.Gly1083Val |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 10381797 | 10381797 | C > G | KIF1B |
NM_015074.3:c.2102C>G |
NP_055889.2:p.Ala701Gly |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 11103530 | 11103530 | G > A | MASP2 |
NM_006610.3:c.607C>T |
NP_006601.2:p.Arg203Trp |
9/13144 | 0.00034 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 11736959 | 11736959 | C > T | MAD2L2 MAD2L2 |
NM_006341.3:c.278G>A NM_001127325.1:c.278G>A |
NP_006332.3:p.Arg93His NP_001120797.1:p.Arg93His |
10/13105 | 0.00038 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 12429702 | 12429702 | C > T | VPS13D VPS13D |
ENST00000358136.3:c.10753C>T ENST00000356315.4:c.10678C>T |
ENSP00000350854.3:p.Arg3585Trp ENSP00000348666.4:p.Arg3560Trp |
2/13105 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 15772400 | 15772400 | T > C | CTRC |
NM_007272.2:c.792+156T>C |
2/11944 | 8.0e-05 | 3 | intronic | Uncertain Significance | |
| View | 1 | 17349132 | 17349132 | T > C | SDHB TRNAN-GUU |
NM_003000.2:c.736A>G |
NP_002991.2:p.Ile246Val |
1/13144 | 4.0e-05 | 3 | curation | Uncertain Significance |
| View | 1 | 17739592 | 17739592 | C > T | TRNAN-GUU RCC2 RCC2 |
NM_018715.3:c.1290G>A NM_001136204.2:c.1290G>A |
NP_061185.1:p.Trp430Ter NP_001129676.1:p.Trp430Ter |
6/13105 | 0.00023 | 3 | premature_stop | Uncertain Significance |
| View | 1 | 19215861 | 19215861 | C > T | ALDH4A1 TRNAN-GUU ALDH4A1 ALDH4A1 |
NM_001161504.1:c.64G>A NM_170726.2:c.244G>A NM_003748.3:c.244G>A |
NP_001154976.1:p.Val22Met NP_733844.1:p.Val82Met NP_003739.2:p.Val82Met |
16/13585 | 0.00059 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 19545802 | 19545802 | G > A | EMC1 TRNAN-GUU EMC1 EMC1 EMC1 |
NM_015047.2:c.2977C>T NM_001271427.1:c.2974C>T NM_001271428.1:c.2974C>T NM_001271429.1:c.2911C>T |
NP_055862.1:p.Arg993Ter NP_001258356.1:p.Arg992Ter NP_001258357.1:p.Arg992Ter NP_001258358.1:p.Arg971Ter |
1/13144 | 4.0e-05 | 3 | curation | Uncertain Significance |
| View | 1 | 20964534 | 20964534 | C > T | TRNAN-GUU PINK1 |
NM_032409.2:c.587C>T |
NP_115785.1:p.Pro196Leu |
9/13144 | 0.00034 | 3 | curation | Uncertain Significance |
| View | 1 | 20979136 | 20979136 | G > A | TRNAN-GUU DDOST |
ENST00000375048.3:c.1199C>T |
ENSP00000364188.3:p.Thr400Ile |
74/13144 | 0.00281 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 20981934 | 20981934 | C > T | TRNAN-GUU DDOST |
ENST00000375048.3:c.601G>A |
ENSP00000364188.3:p.Gly201Arg |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 22181472 | 22181472 | C > T | TRNAN-GUU HSPG2 |
NM_005529.5:c.6002G>A |
NP_005520.4:p.Arg2001Gln |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 22207017 | 22207017 | C > A | TRNAN-GUU HSPG2 |
NM_005529.5:c.2034G>T |
NP_005520.4:p.Gln678His |
6/14969 | 0.0002 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 23399783 | 23399783 | A > G | TRNAN-GUU KDM1A KDM1A |
NM_015013.3:c.1551-2A>G NM_001009999.2:c.1623-2A>G |
2/11983 | 8.0e-05 | 2 | acceptor_site | Uncertain Significance | |
| View | 1 | 27023087 | 27023087 | C > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.193C>G NM_006015.4:c.193C>G |
NP_624361.1:p.Pro65Ala NP_006006.3:p.Pro65Ala |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27023916 | 27023916 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.1022C>T NM_006015.4:c.1022C>T |
NP_624361.1:p.Ala341Val NP_006006.3:p.Ala341Val |
7/13144 | 0.00027 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27056154 | 27056154 | A > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.1150A>G NM_006015.4:c.1150A>G |
NP_624361.1:p.Met384Val NP_006006.3:p.Met384Val |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27088659 | 27088659 | C > A | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.2268C>A NM_006015.4:c.2268C>A |
NP_624361.1:p.Asn756Lys NP_006006.3:p.Asn756Lys |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27089679 | 27089679 | G > A | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.2635G>A NM_006015.4:c.2635G>A |
NP_624361.1:p.Val879Ile NP_006006.3:p.Val879Ile |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27099349 | 27099349 | G > A | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.3586G>A NM_006015.4:c.3586G>A |
NP_624361.1:p.Asp1196Asn NP_006006.3:p.Asp1196Asn |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27120659 | 27120659 | G > A | PIGV TRNAN-GUU PIGV |
NM_001202554.1:c.134G>A NM_017837.3:c.134G>A |
NP_001189483.1:p.Arg45His NP_060307.2:p.Arg45His |
10/13144 | 0.00038 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27120874 | 27120874 | A > G | PIGV TRNAN-GUU PIGV |
NM_001202554.1:c.349A>G NM_017837.3:c.349A>G |
NP_001189483.1:p.Ile117Val NP_060307.2:p.Ile117Val |
36/13144 | 0.00137 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27878526 | 27878526 | G > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.101C>A |
NP_001025053.1:p.Thr34Asn |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 27930145 | 27930145 | T > C | TRNAN-GUU | 1/3767 | 0.00013 | 4 | intronic | Uncertain Significance | ||
| View | 1 | 29542504 | 29542504 | T > C | TRNAN-GUU MECR MECR |
NM_016011.2:c.406+13A>G NM_001024732.1:c.178+13A>G |
25/11947 | 0.00105 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 1 | 38003384 | 38003384 | C > T | TRNAN-GUU SNIP1 |
NM_024700.3:c.1156G>A |
NP_078976.2:p.Asp386Asn |
14/13144 | 0.00053 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 38006125 | 38006125 | G > A | TRNAN-GUU SNIP1 |
NM_024700.3:c.559C>T |
NP_078976.2:p.Arg187Trp |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 38006200 | 38006200 | C > A | TRNAN-GUU SNIP1 |
NM_024700.3:c.484G>T |
NP_078976.2:p.Gly162Cys |
6/13144 | 0.00023 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 39788601 | 39788601 | G > T | TRNAN-GUU MACF1 |
NM_012090.5:c.4172G>T |
NP_036222.3:p.Arg1391Leu |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 39914268 | 39914268 | G > T | TRNAN-GUU MACF1 |
NM_012090.5:c.13914G>T |
NP_036222.3:p.Glu4638Asp |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 40539750 | 40539750 | T > C | TRNAN-GUU PPT1 PPT1 |
NM_001142604.1:c.595A>G NM_000310.3:c.904A>G |
NP_001136076.1:p.Ile199Val NP_000301.1:p.Ile302Val |
35/14969 | 0.00117 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 40737667 | 40737667 | G > C | TRNAN-GUU ZMPSTE24 |
NM_005857.4:c.729G>C |
NP_005848.2:p.Lys243Asn |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |