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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 10 | 70645376 | 70645376 | A > C | STOX1 STOX1 STOX1 STOX1 STOX1 |
NM_001130162.2:c.1494A>C NM_001130160.2:c.463+3510A>C NM_152709.4:c.1824A>C NM_001130161.2:c.1824A>C NM_001130159.2:c.663+1161A>C |
NP_001123634.1:p.Glu498Asp NP_689922.3:p.Glu608Asp NP_001123633.1:p.Glu608Asp |
4749/13145 | 0.20396 | 5 | Benign | |
| View | 10 | 71662507 | 71662507 | G > A | COL13A1 COL13A1 COL13A1 COL13A1 COL13A1 COL13A1 |
NM_080800.3:c.727G>A NM_080801.3:c.718G>A NM_080802.3:c.718G>A NM_080798.3:c.613G>A NM_001130103.1:c.784G>A NM_080805.3:c.631G>A |
NP_542990.3:p.Glu243Lys NP_542991.3:p.Glu240Lys NP_542992.3:p.Glu240Lys NP_542988.3:p.Glu205Lys NP_001123575.1:p.Glu262Lys NP_542995.3:p.Glu211Lys |
207/13106 | 0.0079 | 5 | Benign | |
| View | 10 | 72360648 | 72360648 | C > T | PRF1 PRF1 |
NM_001083116.1:c.11G>A NM_005041.4:c.11G>A |
NP_001076585.1:p.Arg4His NP_005032.2:p.Arg4His |
181/14969 | 0.00615 | 5 | curation | Benign |
| View | 10 | 73406348 | 73406348 | G > A | CDH23 CDH23 CDH23 CDH23 |
NM_001171931.1:c.1423G>A NM_022124.5:c.1423G>A NM_001171930.1:c.1423G>A NM_052836.3:c.1423G>A |
NP_001165402.1:p.Val475Met NP_071407.4:p.Val475Met NP_001165401.1:p.Val475Met NP_443068.1:p.Val475Met |
128/14969 | 0.00438 | 5 | curation | Benign |
| View | 10 | 73476019 | 73476019 | G > A | C10orf105 C10orf105 CDH23 CDH23 |
NM_001164375.2:c.76C>T NM_001168390.1:c.76C>T NM_022124.5:c.3369+3449G>A NM_001171930.1:c.3369+3449G>A |
NP_001157847.1:p.Pro26Ser NP_001161862.1:p.Pro26Ser |
104/14930 | 0.00348 | 5 | curation | Benign |
| View | 10 | 73537449 | 73537449 | G > A | CDH23 |
NM_022124.5:c.4858G>A |
NP_071407.4:p.Val1620Met |
368/14969 | 0.01263 | 5 | Benign | |
| View | 10 | 76735749 | 76735749 | A > G | KAT6B KAT6B KAT6B |
NM_001256469.1:c.1117+537A>G NM_012330.3:c.1654A>G NM_001256468.1:c.1444+210A>G |
NP_036462.2:p.Thr552Ala |
6/13144 | 0.00027 | 5 | curation | Benign |
| View | 10 | 76781852 | 76781863 | GAGGAGGAAGAA > - | KAT6B KAT6B KAT6B |
NM_001256469.1:c.2376_2387del NM_012330.3:c.3252_3263del NM_001256468.1:c.2703_2714del |
NP_001243398.1:p.Glu794_Glu797del NP_036462.2:p.Glu1086_Glu1089del NP_001243397.1:p.Glu903_Glu906del |
228/13144 | 0.00867 | 5 | curation | Benign |
| View | 10 | 76788267 | 76788267 | A > G | KAT6B KAT6B KAT6B |
NM_001256469.1:c.2809A>G NM_012330.3:c.3685A>G NM_001256468.1:c.3136A>G |
NP_001243398.1:p.Ser937Gly NP_036462.2:p.Ser1229Gly NP_001243397.1:p.Ser1046Gly |
1/13144 | 4.0e-05 | 5 | curation | Benign |
| View | 10 | 76788660 | 76788668 | GAAGAGGAA > - | KAT6B KAT6B KAT6B |
NM_001256469.1:c.3221_3229del NM_012330.3:c.4097_4105del NM_001256468.1:c.3548_3556del |
NP_001243398.1:p.Glu1074_Glu1076del NP_036462.2:p.Glu1366_Glu1368del NP_001243397.1:p.Glu1183_Glu1185del |
275/13145 | 0.0105 | 5 | curation | Benign |
| View | 10 | 82034261 | 82034261 | C > T | MAT1A |
NM_000429.2:c.1085+15G>A |
107/11958 | 0.00456 | 5 | curation | Benign | |
| View | 10 | 86007496 | 86007496 | C > T | RGR RGR RGR |
NM_002921.3:c.229C>T NM_001012722.1:c.229C>T NM_001012720.1:c.229C>T |
NP_002912.2:p.Leu77Phe NP_001012740.1:p.Leu77Phe NP_001012738.1:p.Leu77Phe |
11/13144 | 0.00042 | 5 | non_synonymous | Benign |
| View | 10 | 89621800 | 89621800 | A > T | KLLN |
NM_001126049.1:c.445T>A |
NP_001119521.1:p.Trp149Arg |
112/13144 | 0.00426 | 5 | curation | Benign |
| View | 10 | 89621853 | 89621853 | T > C | KLLN |
NM_001126049.1:c.392A>G |
NP_001119521.1:p.Asn131Ser |
112/13144 | 0.00426 | 5 | curation | Benign |
| View | 10 | 89621863 | 89621863 | G > C | KLLN |
NM_001126049.1:c.382C>G |
NP_001119521.1:p.Arg128Gly |
93/13144 | 0.00354 | 5 | curation | Benign |
| View | 10 | 89720634 | 89720635 | - > T | PTEN |
NM_000314.4:c.802-3dupT |
648/12733 | 0.02639 | 5 | curation | Benign | |
| View | 10 | 89720635 | 89720636 | - > T | PTEN |
NM_000314.4:c.802-3dupT |
475/12696 | 0.01922 | 5 | curation | Benign | |
| View | 10 | 89720636 | 89720637 | - > T | PTEN |
NM_000314.4:c.802-3dupT |
137/12654 | 0.00553 | 5 | curation | Benign | |
| View | 10 | 94413508 | 94413508 | G > C | KIF11 |
NM_004523.3:c.3126G>C |
NP_004514.2:p.Leu1042Phe |
125/13144 | 0.00479 | 5 | curation | Benign |
| View | 10 | 95518462 | 95518462 | T > C | LGI1 |
ENST00000371418.4:c.216-55T>C |
198/11964 | 0.00836 | 5 | curation | Benign | |
| View | 10 | 102732739 | 102732739 | C > T | SEMA4G SEMA4G |
NM_001203244.1:c.70C>T NM_017893.3:c.70C>T |
NP_001190173.1:p.Arg24Trp NP_060363.2:p.Arg24Trp |
15/13144 | 0.00057 | 5 | curation | Benign |
| View | 10 | 103825629 | 103825629 | C > T | HPS6 |
NM_024747.5:c.398C>T |
NP_079023.2:p.Ala133Val |
47/13144 | 0.00179 | 5 | curation | Benign |
| View | 10 | 103825929 | 103825929 | T > G | HPS6 |
NM_024747.5:c.698T>G |
NP_079023.2:p.Leu233Arg |
211/13144 | 0.00806 | 5 | curation | Benign |
| View | 10 | 112333446 | 112333446 | A > G | SMC3 |
NM_005445.3:c.92-19A>G |
51/11949 | 0.00218 | 5 | three_prime_flank | Benign | |
| View | 10 | 112360319 | 112360319 | T > - | SMC3 |
NM_005445.3:c.2535+28del |
23/11951 | 0.00096 | 5 | curation | Benign | |
| View | 10 | 112583294 | 112583294 | G > A | RBM20 |
NM_001134363.1:c.3373G>A |
NP_001127835.1:p.Glu1125Lys |
97/13144 | 0.00377 | 5 | non_synonymous | Benign |
| View | 10 | 112771351 | 112771352 | - > T | SHOC2 SHOC2 |
NM_001269039.1:c.1403-7dupT NM_007373.3:c.1541-7dupT |
31/11944 | 0.0013 | 5 | curation | Benign | |
| View | 10 | 112771421 | 112771421 | A > G | SHOC2 SHOC2 |
NM_001269039.1:c.1456A>G NM_007373.3:c.1594A>G |
NP_001255968.1:p.Ser486Gly NP_031399.2:p.Ser532Gly |
31/13144 | 0.00118 | 5 | curation | Benign |
| View | 10 | 123310871 | 123310871 | A > G | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.859T>C NM_001144913.1:c.557T>C NM_001144914.1:c.557T>C NM_000141.4:c.557T>C NM_023029.2:c.290T>C NM_001144919.1:c.290T>C NM_001144915.1:c.290T>C NM_001144916.1:c.212T>C NM_001144917.1:c.557T>C NM_022970.3:c.557T>C NM_001144918.1:c.212T>C |
NP_001138385.1:p.Met186Thr NP_001138386.1:p.Met186Thr NP_000132.3:p.Met186Thr NP_075418.1:p.Met97Thr NP_001138391.1:p.Met97Thr NP_001138387.1:p.Met97Thr NP_001138388.1:p.Met71Thr NP_001138389.1:p.Met186Thr NP_075259.4:p.Met186Thr NP_001138390.1:p.Met71Thr |
899/13144 | 0.03853 | 5 | curation | Benign |
| View | 10 | 131760506 | 131760506 | G > A | EBF3 |
NM_001005463.2:c.356-16C>T |
19/11947 | 0.0008 | 5 | curation | Benign | |
| View | 11 | 640253 | 640253 | C > G | DRD4 |
NM_000797.3:c.1004C>G |
NP_000788.2:p.Ala335Gly |
97/13144 | 0.00373 | 5 | curation | Benign |
| View | 11 | 1271906 | 1271906 | C > T | MUC5B |
NM_002458.2:c.13796C>T |
NP_002449.2:p.Thr4599Met |
149/13105 | 0.00588 | 5 | curation | Benign |
| View | 11 | 2869188 | 2869188 | C > T | KCNQ1 KCNQ1 |
NM_000218.2:c.1986C>T NR_040711.2:n.1879C>T |
NP_000209.2:p.Tyr662= |
4794/13146 | 0.20736 | 5 | Benign | |
| View | 11 | 2930593 | 2930593 | C > - | SLC22A18 SLC22A18 |
NM_183233.2:c.403+8del NM_002555.5:c.403+8del |
26/11986 | 0.00113 | 5 | curation | Benign | |
| View | 11 | 5248243 | 5248243 | A > G | HBB |
NM_000518.4:c.9T>C |
NP_000509.1:p.His3= |
14040/14969 | 0.79284 | 5 | curation | Benign |
| View | 11 | 6412854 | 6412854 | C > T | SMPD1 SMPD1 |
NM_000543.4:c.559C>T NM_001007593.2:c.556C>T |
NP_000534.3:p.Pro187Ser NP_001007594.2:p.Pro186Ser |
129/14969 | 0.00441 | 5 | curation | Benign |
| View | 11 | 6413182 | 6413182 | G > A | SMPD1 SMPD1 |
NM_000543.4:c.887G>A NM_001007593.2:c.884G>A |
NP_000534.3:p.Arg296Gln NP_001007594.2:p.Arg295Gln |
105/14969 | 0.00361 | 5 | curation | Benign |
| View | 11 | 6636668 | 6636668 | C > T | TPP1 |
NM_000391.3:c.1266+5G>A |
181/13827 | 0.00669 | 5 | curation | Benign | |
| View | 11 | 6638938 | 6638938 | T > C | TPP1 |
NM_000391.3:c.299A>G |
NP_000382.3:p.Gln100Arg |
105/14969 | 0.00357 | 5 | curation | Benign |
| View | 11 | 6648332 | 6648332 | T > A | DCHS1 |
ENST00000299441.3:c.5938A>T |
ENSP00000299441.3:p.Thr1980Ser |
120/13144 | 0.0046 | 5 | curation | Benign |
| View | 11 | 7060977 | 7060977 | A > T | NLRP14 |
NM_176822.3:c.322A>T |
NP_789792.1:p.Lys108Ter |
162/13144 | 0.00628 | 1 | Benign | |
| View | 11 | 9871781 | 9871784 | GATT > - | SBF2 |
NM_030962.3:c.2611-19_2611-16del |
184/11966 | 0.00802 | 5 | curation | Benign | |
| View | 11 | 10521644 | 10521644 | T > G | AMPD3 AMPD3 AMPD3 AMPD3 AMPD3 |
NM_001025389.1:c.1569T>G NM_001025390.1:c.1590T>G NM_001172430.1:c.1569T>G NM_001172431.1:c.1092T>G NM_000480.2:c.1596T>G |
NP_001020560.1:p.Phe523Leu NP_001020561.1:p.Phe530Leu NP_001165901.1:p.Phe523Leu NP_001165902.1:p.Phe364Leu NP_000471.1:p.Phe532Leu |
28/13144 | 0.00107 | 5 | curation | Benign |
| View | 11 | 17531057 | 17531057 | C > A | USH1C USH1C |
NM_153676.3:c.1859G>T NM_005709.3:c.1285-7530G>T |
NP_710142.1:p.Arg620Leu |
86/14969 | 0.00291 | 5 | Benign | |
| View | 11 | 17663382 | 17663382 | C > A | OTOG |
NM_001277269.1:c.8227-12C>A |
114/11955 | 0.00485 | 5 | curation | Benign | |
| View | 11 | 22249088 | 22249088 | G > A | ANO5 ANO5 |
NM_213599.2:c.604G>A NM_001142649.1:c.601G>A |
NP_998764.1:p.Glu202Lys NP_001136121.1:p.Glu201Lys |
83/13144 | 0.00323 | 5 | curation | Benign |
| View | 11 | 26463582 | 26463582 | C > T | ANO3 |
NM_031418.2:c.164C>T |
NP_113606.2:p.Ser55Phe |
172/13144 | 0.00662 | 5 | curation | Benign |
| View | 11 | 34981990 | 34981990 | G > A | PDHX PDHX PDHX |
NM_001166158.1:c.342+12837G>A NM_003477.2:c.566G>A NM_001135024.1:c.521G>A |
NP_003468.2:p.Arg189His NP_001128496.1:p.Arg174His |
68/14969 | 0.00227 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 36595760 | 36595760 | C > A | RAG1 |
ENST00000299440.5:c.906C>A |
ENSP00000299440.5:p.Asp302Glu |
209/14969 | 0.00725 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 44129386 | 44129386 | A > G | EXT2 EXT2 EXT2 |
NM_000401.3:c.223A>G NM_001178083.1:c.124A>G NM_207122.1:c.124A>G |
NP_000392.3:p.Met75Val NP_001171554.1:p.Met42Val NP_997005.1:p.Met42Val |
94/13144 | 0.00361 | 5 | curation | Benign |