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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 11 | 654011 | 654011 | C > T | DEAF1 |
NM_021008.2:c.1544G>A |
NP_066288.2:p.Cys515Tyr |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 1780857 | 1780857 | C > A | CTSD |
NM_001909.4:c.241G>T |
NP_001900.1:p.Gly81Trp |
1/8004 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 2610045 | 2610045 | C > T | KCNQ1 KCNQ1 |
NM_000218.2:c.1354C>T NR_040711.2:n.1247C>T |
NP_000209.2:p.Arg452Trp |
2/6213 | 0.00016 | 3 | Uncertain Significance | |
| View | 11 | 3846253 | 3846253 | C > T | PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 PGAP2 |
NR_045925.1:n.460C>T NM_001256237.1:c.779C>T NM_014489.3:c.712C>T NR_045929.1:n.596C>T NR_045927.1:n.629C>T NM_001145438.2:c.688C>T NM_001256236.1:c.883C>T NR_027017.2:n.1012C>T NM_001256235.1:c.583C>T NM_001256239.1:c.517C>T NR_027016.2:n.480C>T NR_045923.1:n.550C>T NR_045926.1:n.472C>T NM_001256240.1:c.529C>T NR_027018.2:n.677C>T NM_001256238.1:c.602C>T |
NP_001243166.1:p.Ser260Leu NP_055304.1:p.Arg238Cys NP_001138910.1:p.Arg230Cys NP_001243165.1:p.Arg295Cys NP_001243164.1:p.Arg195Cys NP_001243168.1:p.Arg173Cys NP_001243169.1:p.Arg177Cys NP_001243167.1:p.Ser201Leu |
7/6213 | 0.00056 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 4112541 | 4112541 | C > T | STIM1 STIM1 STIM1 |
NM_003156.3:c.1571C>T NM_001277961.1:c.1889C>T NM_001277962.1:c.1608C>T |
NP_003147.2:p.Ser524Phe NP_001264890.1:p.Ser630Phe NP_001264891.1:p.Leu536= |
36/8004 | 0.00225 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6415259 | 6415259 | G > A | SMPD1 SMPD1 |
NM_001007593.2:c.1471G>A NM_000543.4:c.1474G>A |
NP_001007594.2:p.Gly491Ser NP_000534.3:p.Gly492Ser |
14/8004 | 0.00087 | 1 | Uncertain Significance | |
| View | 11 | 6415539 | 6415539 | C > T | SMPD1 SMPD1 |
NM_001007593.2:c.1595C>T NM_000543.4:c.1598C>T |
NP_001007594.2:p.Pro532Leu NP_000534.3:p.Pro533Leu |
1/8004 | 6.0e-05 | 3 | Uncertain Significance | |
| View | 11 | 6645388 | 6645388 | T > C | DCHS1 |
ENST00000299441.3:c.7519A>G |
ENSP00000299441.3:p.Thr2507Ala |
3/6213 | 0.00024 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6651470 | 6651470 | G > A | DCHS1 |
ENST00000299441.3:c.4555C>T |
ENSP00000299441.3:p.Pro1519Ser |
26/6213 | 0.00209 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6661299 | 6661299 | C > T | DCHS1 |
ENST00000299441.3:c.1546G>A |
ENSP00000299441.3:p.Ala516Thr |
7/6213 | 0.00056 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6661742 | 6661742 | C > T | DCHS1 |
ENST00000299441.3:c.1103G>A |
ENSP00000299441.3:p.Ser368Asn |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17415289 | 17415289 | C > A | ABCC8 |
NM_000352.3:c.4563G>T |
NP_000343.2:p.Lys1521Asn |
8/8223 | 0.00049 | 3 | Uncertain Significance | |
| View | 11 | 17519789 | 17519789 | C > T | USH1C USH1C |
NM_153676.3:c.2410G>A NM_005709.3:c.1510G>A |
NP_710142.1:p.Ala804Thr NP_005700.2:p.Ala504Thr |
2/8004 | 0.00012 | 3 | Uncertain Significance | |
| View | 11 | 17580151 | 17580151 | C > T | OTOG |
NM_001277269.1:c.1099C>T |
NP_001264198.1:p.Pro367Ser |
1/6204 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17627538 | 17627538 | C > T | OTOG |
NM_001277269.1:c.4048C>T |
NP_001264198.1:p.Arg1350Trp |
4/6204 | 0.00032 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17632921 | 17632921 | C > T | OTOG |
NM_001277269.1:c.6110C>T |
NP_001264198.1:p.Ala2037Val |
25/6204 | 0.00201 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17667402 | 17667402 | C > T | OTOG |
NM_001277269.1:c.8689C>T |
NP_001264198.1:p.Arg2897Cys |
2/6204 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 18309531 | 18309531 | C > T | HPS5 HPS5 HPS5 |
NM_181508.1:c.2128G>A NM_181507.1:c.2470G>A NM_007216.3:c.2128G>A |
NP_852609.1:p.Glu710Lys NP_852608.1:p.Glu824Lys NP_009147.3:p.Glu710Lys |
2/6213 | 0.00024 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 22301267 | 22301267 | A > C | ANO5 ANO5 |
NM_213599.2:c.2698A>C NM_001142649.1:c.2695A>C |
NP_998764.1:p.Met900Leu NP_001136121.1:p.Met899Leu |
31/6213 | 0.00249 | 3 | Uncertain Significance | |
| View | 11 | 22646972 | 22646972 | G > C | FANCF |
NM_022725.3:c.385C>G |
NP_073562.1:p.Leu129Val |
5/6213 | 0.0004 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 35327683 | 35327683 | G > T | SLC1A2 SLC1A2 SLC1A2 |
NM_001252652.1:c.641C>A NM_001195728.2:c.641C>A NM_004171.3:c.668C>A |
NP_001239581.1:p.Pro214Gln NP_001182657.1:p.Pro214Gln NP_004162.2:p.Pro223Gln |
5/6213 | 0.0004 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 44265835 | 44265835 | T > G | EXT2 EXT2 EXT2 |
NM_001178083.1:c.2185T>G NM_207122.1:c.2155T>G NM_000401.3:c.2254T>G |
NP_001171554.1:p.Ter729GlyextTer8 NP_997005.1:p.Ter719GlyextTer8 NP_000392.3:p.Ter752GlyextTer8 |
1/6213 | 8.0e-05 | 3 | disruption_of_stop | Uncertain Significance |
| View | 11 | 44286664 | 44286664 | C > T | ALX4 |
NM_021926.3:c.976G>A |
NP_068745.2:p.Asp326Asn |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 45827853 | 45827855 | CTT > - | SLC35C1 SLC35C1 SLC35C1 |
NM_001145265.1:c.464_466del NM_018389.4:c.503_505del NM_001145266.1:c.464_466del |
NP_001138737.1:p.Phe155del NP_060859.4:p.Phe168del NP_001138738.1:p.Phe155del |
7/8004 | 0.00044 | 3 | Uncertain Significance | |
| View | 11 | 65487792 | 65487792 | T > A | RNASEH2C |
NM_032193.3:c.269A>T |
NP_115569.2:p.Lys90Met |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 65487793 | 65487793 | T > C | RNASEH2C |
NM_032193.3:c.268A>G |
NP_115569.2:p.Lys90Glu |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66113701 | 66113701 | A > G | B4GAT1 |
NM_006876.2:c.1067T>C |
NP_006867.1:p.Leu356Pro |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66282033 | 66282033 | C > G | BBS1 |
NM_024649.4:c.316C>G |
NP_078925.3:p.Leu106Val |
5/6213 | 0.0004 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66283077 | 66283077 | T > C | BBS1 |
NM_024649.4:c.479+20T>C |
2/6174 | 0.00016 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 11 | 66293661 | 66293661 | G > A | BBS1 |
NM_024649.4:c.1178G>A |
NP_078925.3:p.Arg393Gln |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66616478 | 66616478 | C > A | PC PC PC |
NM_000920.3:c.3429G>T NM_022172.2:c.3429G>T NM_001040716.1:c.3429G>T |
NP_000911.2:p.Met1143Ile NP_071504.2:p.Met1143Ile NP_001035806.1:p.Met1143Ile |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66617122 | 66617122 | C > T | PC PC PC |
NM_000920.3:c.3107G>A NM_022172.2:c.3107G>A NM_001040716.1:c.3107G>A |
NP_000911.2:p.Arg1036His NP_071504.2:p.Arg1036His NP_001035806.1:p.Arg1036His |
20/8004 | 0.00125 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66631259 | 66631259 | C > T | PC PC PC |
NM_000920.3:c.1354G>A NM_022172.2:c.1354G>A NM_001040716.1:c.1354G>A |
NP_000911.2:p.Val452Ile NP_071504.2:p.Val452Ile NP_001035806.1:p.Val452Ile |
5/8004 | 0.00031 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66633650 | 66633653 | CCGC > - | PC PC PC |
NM_000920.3:c.1185+5_1185+8del NM_022172.2:c.1185+5_1185+8del NM_001040716.1:c.1185+5_1185+8del |
8/8004 | 0.0005 | 3 | five_prime_flank | Uncertain Significance | |
| View | 11 | 67763325 | 67763325 | G > C | UNC93B1 |
ENST00000227471.2:c.1117C>G |
ENSP00000227471.2:p.Arg373Gly |
13/8004 | 0.00081 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 67800683 | 67800683 | G > A | NDUFS8 |
NM_002496.3:c.305G>A |
NP_002487.1:p.Arg102His |
4/8004 | 0.00025 | 3 | Uncertain Significance | |
| View | 11 | 67803807 | 67803807 | G > A | NDUFS8 |
NM_002496.3:c.460G>A |
NP_002487.1:p.Gly154Ser |
2/8004 | 0.00012 | 3 | Uncertain Significance | |
| View | 11 | 67814983 | 67814983 | G > A | TCIRG1 TCIRG1 |
ENST00000265686.3:c.1249G>A ENST00000532635.1:c.601G>A |
ENSP00000265686.3:p.Ala417Thr ENSP00000434407.1:p.Ala201Thr |
68/8004 | 0.00425 | 3 | Uncertain Significance | |
| View | 11 | 68566781 | 68566781 | T > C | CPT1A CPT1A |
ENST00000376618.2:c.598A>G ENST00000265641.5:c.598A>G |
ENSP00000365803.2:p.Lys200Glu ENSP00000265641.4:p.Lys200Glu |
1/8004 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68566822 | 68566822 | T > C | CPT1A CPT1A |
ENST00000376618.2:c.557A>G ENST00000265641.5:c.557A>G |
ENSP00000365803.2:p.Tyr186Cys ENSP00000265641.4:p.Tyr186Cys |
3/8004 | 0.00019 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68678898 | 68678898 | T > G | IGHMBP2 |
NM_002180.2:c.548-10T>G |
19/8004 | 0.00119 | 3 | polypyrimidine_tract | Uncertain Significance | |
| View | 11 | 68703821 | 68703821 | A > G | IGHMBP2 |
NM_002180.2:c.1873A>G |
NP_002171.2:p.Thr625Ala |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68704308 | 68704308 | C > T | IGHMBP2 |
NM_002180.2:c.2360C>T |
NP_002171.2:p.Pro787Leu |
9/8004 | 0.00056 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 71150037 | 71150037 | T > C | DHCR7 DHCR7 |
NM_001163817.1:c.719A>G NM_001360.2:c.719A>G |
NP_001157289.1:p.Asn240Ser NP_001351.2:p.Asn240Ser |
6/8004 | 0.00044 | 3 | Uncertain Significance | |
| View | 11 | 71906793 | 71906793 | T > C | FOLR1 FOLR1 FOLR1 FOLR1 |
NM_016724.2:c.493+2T>C NM_000802.3:c.493+2T>C NM_016725.2:c.493+2T>C NM_016729.2:c.493+2T>C |
44/8004 | 0.00281 | 1 | Uncertain Significance | ||
| View | 11 | 76903237 | 76903237 | A > T | MYO7A MYO7A |
NM_001127180.1:c.4066A>T NM_000260.3:c.4066A>T |
NP_001120652.1:p.Ser1356Cys NP_000251.3:p.Ser1356Cys |
1/8004 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 78277185 | 78277185 | A > T | NARS2 NARS2 |
NM_024678.5:c.506T>A NM_001243251.1:c.-176T>A |
NP_078954.4:p.Phe169Tyr |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 78285487 | 78285487 | G > A | NARS2 NARS2 |
NM_024678.5:c.47C>T NM_001243251.1:c.-541+387C>T |
NP_078954.4:p.Ser16Phe |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 103153798 | 103153798 | C > T | DYNC2H1 DYNC2H1 |
NM_001377.2:c.10874C>T NM_001080463.1:c.10895C>T |
NP_001368.2:p.Ala3625Val NP_001073932.1:p.Ala3632Val |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 108018032 | 108018039 | ATGCCTTG > - | ACAT1 |
NM_000019.3:c.1200_1207del |
NP_000010.1:p.His400GlnfsTer57 |
2/8004 | 0.00012 | 2 | frameshift | Uncertain Significance |