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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 | 6528302 | 6528302 | T > C | PLEKHG5 |
NM_001265593.1:c.2801A>G NM_001265592.1:c.2831A>G NM_001042665.1:c.2594A>G NM_001042664.1:c.2594A>G NM_020631.4:c.2594A>G NM_198681.3:c.2825A>G NM_001265594.1:c.2594A>G NM_001042663.1:c.2762A>G |
NP_001252522.1:p.Gln934Arg NP_001252521.1:p.Gln944Arg NP_001036130.1:p.Gln865Arg NP_001036129.1:p.Gln865Arg NP_065682.2:p.Gln865Arg NP_941374.2:p.Gln942Arg NP_001252523.1:p.Gln865Arg NP_001036128.1:p.Gln921Arg |
34/6075 | 0.00288 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 7723407 | 7723407 | C > - | CAMTA1 |
NM_015215.2:c.806-5del |
82/4281 | 0.00969 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 8716306 | 8716307 | - > CGGTCC | RERE |
NM_012102.3:c.45_50dupGGACCG NM_001042681.1:c.45_50dupGGACCG |
NP_036234.3:p.Asp20_Arg21dup NP_001036146.1:p.Asp20_Arg21dup |
48/4281 | 0.00561 | 5 | in_frame_indel | Benign |
| View | 1 | 21889760 | 21889760 | G > A | ALPL TRNAN-GUU |
NM_000478.4:c.455G>A NM_001177520.1:c.224G>A NM_001127501.2:c.290G>A |
NP_000469.3:p.Arg152His NP_001170991.1:p.Arg75His NP_001120973.2:p.Arg97His |
155/6075 | 0.01292 | 5 | Benign | |
| View | 1 | 22202856 | 22202856 | T > G | TRNAN-GUU HSPG2 |
NM_005529.5:c.2869A>C |
NP_005520.4:p.Asn957His |
57/6075 | 0.00486 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 27087549 | 27087549 | A > C | TRNAN-GUU ARID1A |
NM_006015.4:c.2123A>C NM_139135.2:c.2123A>C |
NP_006006.3:p.Gln708Pro NP_624361.1:p.Gln708Pro |
2/4281 | 0.00023 | 5 | non_synonymous | Benign |
| View | 1 | 27878415 | 27878415 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.212C>T |
NP_001025053.1:p.Thr71Ile |
32/4281 | 0.00374 | 5 | non_synonymous | Benign |
| View | 1 | 43396414 | 43396414 | G > A | TRNAN-GUU SLC2A1 |
NM_006516.2:c.399C>T |
NM_006516.2:c.399C>T(p.%3D) |
1422/4281 | 0.18325 | 5 | Benign | |
| View | 1 | 45973124 | 45973124 | G > C | TRNAN-GUU MMACHC |
NM_015506.2:c.178G>C |
NP_056321.2:p.Asp60His |
78/6075 | 0.0065 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 63021621 | 63021621 | A > G | DOCK7 TRNAN-GUU |
NM_001271999.1:c.2471T>C NM_001272000.1:c.2471T>C NM_033407.3:c.2471T>C NM_001272001.1:c.2471T>C |
NP_001258928.1:p.Ile824Thr NP_001258929.1:p.Ile824Thr NP_212132.2:p.Ile824Thr NP_001258930.1:p.Ile824Thr |
24/4281 | 0.00292 | 3 | non_synonymous | Benign |
| View | 1 | 63085630 | 63085630 | T > C | TRNAN-GUU DOCK7 |
NM_033407.3:c.1460A>G NM_001272000.1:c.1460A>G NM_001271999.1:c.1460A>G NM_001272001.1:c.1460A>G NM_001272002.1:c.1460A>G |
NP_212132.2:p.Lys487Arg NP_001258929.1:p.Lys487Arg NP_001258928.1:p.Lys487Arg NP_001258930.1:p.Lys487Arg NP_001258931.1:p.Lys487Arg |
27/4281 | 0.00315 | 5 | non_synonymous | Benign |
| View | 1 | 100681587 | 100681587 | A > G | TRNAN-GUU DBT |
ENST00000370132.4:c.724T>C |
ENSP00000359151.3:p.Ser242Pro |
119/6075 | 0.00979 | 5 | non_synonymous | Benign |
| View | 1 | 103354135 | 103354135 | G > C | COL11A1 TRNAN-GUU |
NM_001190709.1:c.4489C>G NM_080629.2:c.4642C>G NM_080630.3:c.4258C>G NM_001854.3:c.4606C>G |
NP_001177638.1:p.Pro1497Ala NP_542196.2:p.Pro1548Ala NP_542197.3:p.Pro1420Ala NP_001845.3:p.Pro1536Ala |
81/4281 | 0.00969 | 5 | non_synonymous | Benign |
| View | 1 | 116269619 | 116269619 | T > C | TRNAN-GUU CASQ2 |
NM_001232.3:c.731A>G |
NP_001223.2:p.His244Arg |
46/4281 | 0.00561 | 5 | Benign | |
| View | 1 | 155210498 | 155210498 | T > C | GBA |
NM_001005742.2:c.38A>G NM_001171812.1:c.38A>G NM_000157.3:c.38A>G NM_001171811.1:c.-146-630A>G NM_001005741.2:c.38A>G |
NP_001005742.1:p.Lys13Arg NP_001165283.1:p.Lys13Arg NP_000148.2:p.Lys13Arg NP_001005741.1:p.Lys13Arg |
54/6075 | 0.00461 | 5 | Benign | |
| View | 1 | 156838432 | 156838432 | C > T | NTRK1 |
NM_001007792.1:c.620C>T NM_002529.3:c.710C>T NM_001012331.1:c.710C>T |
NP_001007793.1:p.Thr207Met NP_002520.2:p.Thr237Met NP_001012331.1:p.Thr237Met |
55/6075 | 0.00453 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 196965193 | 196965193 | G > A | CFHR5 |
NM_030787.3:c.832G>A |
NP_110414.1:p.Gly278Ser |
78/4281 | 0.00911 | 5 | non_synonymous | Benign |
| View | 1 | 216051125 | 216051125 | G > A | USH2A |
ENST00000307340.3:c.8656C>T |
ENSP00000305941.3:p.Leu2886Phe |
558/6075 | 0.04815 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 220369746 | 220369747 | AA > - | RAB3GAP2 |
NM_012414.3:c.812-7_812-6del |
43/6075 | 0.00362 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 235909815 | 235909815 | A > T | LYST |
NM_000081.3:c.7793T>A |
NP_000072.2:p.Phe2598Tyr |
73/6075 | 0.00634 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 235926164 | 235926164 | T > - | LYST |
NM_000081.3:c.6122-13del |
76/6075 | 0.00658 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |
| View | 1 | 236914923 | 236914923 | A > G | ACTN2 |
ENST00000366578.4:c.1810A>G NM_001278344.1:c.1186A>G ENST00000542672.1:c.1810A>G |
ENSP00000355537.4:p.Met604Val NP_001265273.1:p.Met396Val ENSP00000443495.1:p.Met604Val |
23/4281 | 0.00269 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 240256187 | 240256187 | G > A | FMN2 |
NM_020066.4:c.778G>A |
NP_064450.3:p.Ala260Thr |
14/4281 | 0.00175 | 3 | non_synonymous | Benign |
| View | 10 | 43606650 | 43606650 | C > T | RET |
ENST00000355710.3:c.1264-5C>T ENST00000340058.5:c.1264-5C>T |
63/4281 | 0.00736 | 5 | Benign | ||
| View | 10 | 43609994 | 43609994 | C > T | RET |
ENST00000355710.3:c.1946C>T ENST00000340058.5:c.1946C>T |
ENSP00000347942.3:p.Ser649Leu ENSP00000344798.4:p.Ser649Leu |
2/4281 | 0.00023 | 5 | Benign | |
| View | 10 | 72360648 | 72360648 | C > T | PRF1 |
NM_001083116.1:c.11G>A NM_005041.4:c.11G>A |
NP_001076585.1:p.Arg4His NP_005032.2:p.Arg4His |
64/6075 | 0.00543 | 5 | Benign | |
| View | 10 | 76781852 | 76781863 | GAGGAGGAAGAA > - | KAT6B |
NM_001256468.1:c.2703_2714del NM_001256469.1:c.2376_2387del NM_012330.3:c.3252_3263del |
NP_001243397.1:p.Glu903_Glu906del NP_001243398.1:p.Glu794_Glu797del NP_036462.2:p.Glu1086_Glu1089del |
77/4281 | 0.00899 | 5 | in_frame_indel | Benign |
| View | 10 | 76788660 | 76788668 | GAAGAGGAA > - | KAT6B |
NM_001256468.1:c.3548_3556del NM_001256469.1:c.3221_3229del NM_012330.3:c.4097_4105del |
NP_001243397.1:p.Glu1183_Glu1185del NP_001243398.1:p.Glu1074_Glu1076del NP_036462.2:p.Glu1366_Glu1368del |
78/4282 | 0.00922 | 5 | in_frame_indel | Benign |
| View | 10 | 94413508 | 94413508 | G > C | KIF11 |
NM_004523.3:c.3126G>C |
NP_004514.2:p.Leu1042Phe |
29/4281 | 0.00339 | 5 | non_synonymous | Benign |
| View | 10 | 123310871 | 123310871 | A > G | FGFR2 |
NM_001144914.1:c.557T>C NM_000141.4:c.557T>C NM_001144916.1:c.212T>C NM_001144919.1:c.290T>C NR_073009.1:n.859T>C NM_022970.3:c.557T>C NM_001144915.1:c.290T>C NM_001144918.1:c.212T>C NM_001144913.1:c.557T>C NM_023029.2:c.290T>C NM_001144917.1:c.557T>C |
NP_001138386.1:p.Met186Thr NP_000132.3:p.Met186Thr NP_001138388.1:p.Met71Thr NP_001138391.1:p.Met97Thr NP_075259.4:p.Met186Thr NP_001138387.1:p.Met97Thr NP_001138390.1:p.Met71Thr NP_001138385.1:p.Met186Thr NP_075418.1:p.Met97Thr NP_001138389.1:p.Met186Thr |
235/4286 | 0.02998 | 5 | Benign | |
| View | 11 | 6412854 | 6412854 | C > T | SMPD1 |
NM_001007593.2:c.556C>T NM_000543.4:c.559C>T |
NP_001007594.2:p.Pro186Ser NP_000534.3:p.Pro187Ser |
35/6075 | 0.00305 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 6413182 | 6413182 | G > A | SMPD1 |
NM_001007593.2:c.884G>A NM_000543.4:c.887G>A |
NP_001007594.2:p.Arg295Gln NP_000534.3:p.Arg296Gln |
43/6075 | 0.0037 | 5 | Benign | |
| View | 11 | 6636668 | 6636668 | C > T | TPP1 |
NM_000391.3:c.1266+5G>A |
64/6075 | 0.00551 | 5 | Common ExAC MAF original cat: TYPE_3 - five_prime_flank | Benign | |
| View | 11 | 6638938 | 6638938 | T > C | TPP1 |
NM_000391.3:c.299A>G |
NP_000382.3:p.Gln100Arg |
37/6075 | 0.00313 | 5 | Benign | |
| View | 11 | 7060977 | 7060977 | A > T | NLRP14 |
NM_176822.3:c.322A>T |
NP_789792.1:p.Lys108Ter |
31/4281 | 0.00374 | 1 | Benign | |
| View | 11 | 17663382 | 17663382 | C > A | OTOG |
NM_001277269.1:c.8227-12C>A |
25/4272 | 0.00304 | 5 | polypyrimidine_tract | Benign | |
| View | 11 | 34981990 | 34981990 | G > A | PDHX |
NM_003477.2:c.566G>A NM_001135024.1:c.521G>A NM_001166158.1:c.342+12837G>A |
NP_003468.2:p.Arg189His NP_001128496.1:p.Arg174His |
25/6075 | 0.00206 | 3 | non_synonymous | Benign |
| View | 11 | 36595760 | 36595760 | C > A | RAG1 |
ENST00000299440.5:c.906C>A |
ENSP00000299440.5:p.Asp302Glu |
71/6075 | 0.00593 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 47469654 | 47469654 | A > G | RAPSN |
NM_005055.4:c.241T>C NM_032645.4:c.241T>C |
NP_005046.2:p.Phe81Leu NP_116034.2:p.Phe81Leu |
76/6075 | 0.00626 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 66287196 | 66287196 | G > A | BBS1 |
NM_024649.4:c.700G>A |
NP_078925.3:p.Glu234Lys |
59/4281 | 0.00712 | 5 | Benign | |
| View | 11 | 67807143 | 67807144 | - > C | TCIRG1 |
ENST00000265686.3:c.-5+560dupC |
605/4449 | 0.13587 | 5 | Benign | ||
| View | 11 | 67813930 | 67813930 | A > G | TCIRG1 |
ENST00000265686.3:c.1166-970A>G ENST00000532635.1:c.518-970A>G |
646/6075 | 0.09588 | 5 | Benign | ||
| View | 11 | 67814979 | 67814979 | G > C | TCIRG1 |
ENST00000265686.3:c.1245G>C ENST00000532635.1:c.597G>C |
ENST00000265686.3:c.1245G>C(p.%3D) ENST00000532635.1:c.597G>C(p.%3D) |
6040/6075 | 0.98568 | 5 | Common ExAC MAF original cat: TYPE_4 - synonymous | Benign |
| View | 11 | 67817991 | 67817992 | - > GGCCTG | TCIRG1 |
ENST00000265686.3:c.2285_2290dupTGGGCC ENST00000532635.1:c.1637_1642dupTGGGCC |
ENSP00000265686.3:p.Leu762_Gly763dup ENSP00000434407.1:p.Leu546_Gly547dup |
65/6075 | 0.00543 | 5 | Common ExAC MAF original cat: TYPE_3 - in_frame_indel | Benign |
| View | 11 | 76868309 | 76868310 | - > TGCCCACATTTT | MYO7A |
NM_001127179.2:c.736-15_736-4dupTGCCCACATTTT NM_000260.3:c.736-15_736-4dupTGCCCACATTTT NM_001127180.1:c.736-15_736-4dupTGCCCACATTTT |
66/6075 | 0.00551 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |
| View | 11 | 76925733 | 76925733 | G > A | MYO7A |
NM_001127180.1:c.6520G>A NM_000260.3:c.6640G>A |
NP_001120652.1:p.Gly2174Ser NP_000251.3:p.Gly2214Ser |
55/6075 | 0.00477 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 108114727 | 108114727 | G > C | ATM |
ENST00000278616.4:c.544G>C |
ENSP00000278616.4:p.Val182Leu |
26/6075 | 0.00222 | 5 | Benign | |
| View | 11 | 108121733 | 108121733 | G > A | ATM |
ENST00000278616.4:c.1541G>A |
ENSP00000278616.4:p.Gly514Asp |
46/6075 | 0.00379 | 5 | Benign | |
| View | 11 | 108122592 | 108122592 | C > G | ATM |
ENST00000278616.4:c.1636C>G |
ENSP00000278616.4:p.Leu546Val |
37/6075 | 0.00313 | 5 | Benign | |
| View | 11 | 108138045 | 108138045 | C > T | ATM |
ENST00000278616.4:c.2614C>T |
ENSP00000278616.4:p.Pro872Ser |
33/6075 | 0.0028 | 5 | Benign |