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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 | 135186831 | 135186831 | C > T | ECHS1 |
NM_004092.3:c.7G>A |
NP_004083.3:p.Ala3Thr |
6/9594 | 0.00031 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 375711 | 375711 | C > T | B4GALNT4 |
NM_178537.4:c.923C>T |
NP_848632.2:p.Pro308Leu |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 654011 | 654011 | C > T | DEAF1 |
NM_021008.2:c.1544G>A |
NP_066288.2:p.Cys515Tyr |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 686935 | 686935 | T > C | DEAF1 |
NM_021008.2:c.727A>G |
NP_066288.2:p.Met243Val |
74/9594 | 0.00386 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 824794 | 824794 | G > C | PNPLA2 |
NM_020376.3:c.1447G>C |
NP_065109.1:p.Gly483Arg |
10/9594 | 0.00052 | 3 | Uncertain Significance | |
| View | 11 | 1780857 | 1780857 | C > A | CTSD |
NM_001909.4:c.241G>T |
NP_001900.1:p.Gly81Trp |
1/11422 | 4.0e-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 |
2/9594 | 0.0001 | 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 |
NM_014489.3:c.712C>T NR_027016.2:n.480C>T NM_001256240.1:c.529C>T NR_045923.1:n.550C>T NR_045925.1:n.460C>T NR_045927.1:n.629C>T NR_045926.1:n.472C>T NR_045929.1:n.596C>T NM_001145438.2:c.688C>T NM_001256238.1:c.602C>T NM_001256239.1:c.517C>T NM_001256235.1:c.583C>T NM_001256236.1:c.883C>T NM_001256237.1:c.779C>T NR_027018.2:n.677C>T NR_027017.2:n.1012C>T |
NP_055304.1:p.Arg238Cys NP_001243169.1:p.Arg177Cys NP_001138910.1:p.Arg230Cys NP_001243167.1:p.Ser201Leu NP_001243168.1:p.Arg173Cys NP_001243164.1:p.Arg195Cys NP_001243165.1:p.Arg295Cys NP_001243166.1:p.Ser260Leu |
10/9594 | 0.00052 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 4112541 | 4112541 | C > T | STIM1 STIM1 STIM1 |
NM_003156.3:c.1571C>T NM_001277962.1:c.1608C>T NM_001277961.1:c.1889C>T |
NP_003147.2:p.Ser524Phe NP_001264891.1:p.Leu536= NP_001264890.1:p.Ser630Phe |
54/11422 | 0.00236 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6415259 | 6415259 | G > A | SMPD1 SMPD1 |
NM_000543.4:c.1474G>A NM_001007593.2:c.1471G>A |
NP_000534.3:p.Gly492Ser NP_001007594.2:p.Gly491Ser |
19/11422 | 0.00083 | 1 | Uncertain Significance | |
| View | 11 | 6415539 | 6415539 | C > T | SMPD1 SMPD1 |
NM_000543.4:c.1598C>T NM_001007593.2:c.1595C>T |
NP_000534.3:p.Pro533Leu NP_001007594.2:p.Pro532Leu |
1/11422 | 4.0e-05 | 3 | Uncertain Significance | |
| View | 11 | 6640618 | 6640618 | G > T | TPP1 |
NM_000391.3:c.14C>A |
NP_000382.3:p.Ala5Asp |
20/11422 | 0.00092 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6645388 | 6645388 | T > C | DCHS1 |
ENST00000299441.3:c.7519A>G |
ENSP00000299441.3:p.Thr2507Ala |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6651470 | 6651470 | G > A | DCHS1 |
ENST00000299441.3:c.4555C>T |
ENSP00000299441.3:p.Pro1519Ser |
31/9594 | 0.00162 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6661299 | 6661299 | C > T | DCHS1 |
ENST00000299441.3:c.1546G>A |
ENSP00000299441.3:p.Ala516Thr |
11/9594 | 0.00057 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6661742 | 6661742 | C > T | DCHS1 |
ENST00000299441.3:c.1103G>A |
ENSP00000299441.3:p.Ser368Asn |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17415289 | 17415289 | C > A | ABCC8 |
NM_000352.3:c.4563G>T |
NP_000343.2:p.Lys1521Asn |
14/11765 | 0.00059 | 3 | Uncertain Significance | |
| View | 11 | 17418874 | 17418874 | G > C | ABCC8 |
NM_000352.3:c.3868-14C>G |
2/11383 | 9.0e-05 | 3 | polypyrimidine_tract | 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 |
4/11422 | 0.00018 | 3 | Uncertain Significance | |
| View | 11 | 17580151 | 17580151 | C > T | OTOG |
NM_001277269.1:c.1099C>T |
NP_001264198.1:p.Pro367Ser |
1/9585 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17627538 | 17627538 | C > T | OTOG |
NM_001277269.1:c.4048C>T |
NP_001264198.1:p.Arg1350Trp |
8/9585 | 0.00042 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17632921 | 17632921 | C > T | OTOG |
NM_001277269.1:c.6110C>T |
NP_001264198.1:p.Ala2037Val |
33/9585 | 0.00172 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17667402 | 17667402 | C > T | OTOG |
NM_001277269.1:c.8689C>T |
NP_001264198.1:p.Arg2897Cys |
2/9585 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 18309531 | 18309531 | C > T | HPS5 HPS5 HPS5 |
NM_007216.3:c.2128G>A NM_181507.1:c.2470G>A NM_181508.1:c.2128G>A |
NP_009147.3:p.Glu710Lys NP_852608.1:p.Glu824Lys NP_852609.1:p.Glu710Lys |
2/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 20136277 | 20136277 | C > - | NAV2 NAV2 NAV2 NAV2 NAV2 |
NM_001111019.2:c.4293del ENST00000360655.4:c.6909del ENST00000396085.1:c.7110del ENST00000349880.4:c.7101del ENST00000396087.3:c.7278del |
NP_001104489.1:p.Met1432CysfsTer21 ENSP00000353871.4:p.Met2304CysfsTer21 ENSP00000379394.1:p.Met2371CysfsTer21 ENSP00000309577.6:p.Met2368CysfsTer21 ENSP00000379396.3:p.Met2427CysfsTer21 |
1/9594 | 5.0e-05 | 2 | frameshift | 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 |
52/9594 | 0.00271 | 3 | Uncertain Significance | |
| View | 11 | 22646972 | 22646972 | G > C | FANCF |
NM_022725.3:c.385C>G |
NP_073562.1:p.Leu129Val |
9/9594 | 0.00047 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 27679427 | 27679427 | G > A | BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF BDNF-AS BDNF-AS BDNF-AS BDNF BDNF BDNF-AS BDNF BDNF-AS |
ENST00000532997.1:c.685C>T ENST00000395980.2:c.685C>T ENST00000395981.3:c.685C>T ENST00000525528.1:c.685C>T ENST00000525950.1:c.685C>T ENST00000418212.1:c.685C>T ENST00000438929.1:c.931C>T ENST00000533246.1:c.685C>T ENST00000356660.4:c.685C>T ENST00000314915.6:c.709C>T ENST00000439476.2:c.685C>T ENST00000420794.1:c.685C>T ENST00000530861.1:c.685C>T NR_002832.2:n.375-361G>A NR_033315.1:n.306-361G>A NR_033314.1:n.375-361G>A ENST00000395978.3:c.685C>T ENST00000395983.3:c.685C>T NR_033312.1:n.306-361G>A ENST00000395986.2:c.730C>T NR_033313.1:n.306-361G>A |
ENSP00000435805.1:p.Arg229Ter ENSP00000379304.2:p.Arg229Ter ENSP00000379305.3:p.Arg229Ter ENSP00000437138.1:p.Arg229Ter ENSP00000432035.1:p.Arg229Ter ENSP00000400502.1:p.Arg229Ter ENSP00000414303.1:p.Arg311Ter ENSP00000432376.1:p.Arg229Ter ENSP00000349084.4:p.Arg229Ter ENSP00000320002.6:p.Arg237Ter ENSP00000389345.2:p.Arg229Ter ENSP00000389564.1:p.Arg229Ter ENSP00000435564.1:p.Arg229Ter ENSP00000379302.3:p.Arg229Ter ENSP00000379307.3:p.Arg229Ter ENSP00000379309.2:p.Arg244Ter |
5/9783 | 0.00026 | 2 | premature_stop | Uncertain Significance |
| View | 11 | 35327683 | 35327683 | G > T | SLC1A2 SLC1A2 SLC1A2 |
NM_001195728.2:c.641C>A NM_001252652.1:c.641C>A NM_004171.3:c.668C>A |
NP_001182657.1:p.Pro214Gln NP_001239581.1:p.Pro214Gln NP_004162.2:p.Pro223Gln |
13/9595 | 0.00073 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 35641317 | 35641330 | TGCACCGCGGACAG > - | FJX1 |
NM_014344.3:c.1133_1146del |
NP_055159.2:p.Leu378ArgfsTer46 |
1/9555 | 5.0e-05 | 2 | frameshift | Uncertain Significance |
| View | 11 | 44265835 | 44265835 | T > G | EXT2 EXT2 EXT2 |
NM_000401.3:c.2254T>G NM_001178083.1:c.2185T>G NM_207122.1:c.2155T>G |
NP_000392.3:p.Ter752GlyextTer8 NP_001171554.1:p.Ter729GlyextTer8 NP_997005.1:p.Ter719GlyextTer8 |
1/9594 | 5.0e-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 |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 44331594 | 44331594 | C > A | ALX4 |
NM_021926.3:c.19G>T |
NP_068745.2:p.Val7Phe |
2/9594 | 0.0001 | 1 | Uncertain Significance | |
| View | 11 | 45827853 | 45827855 | CTT > - | SLC35C1 SLC35C1 SLC35C1 |
NM_001145265.1:c.464_466del NM_001145266.1:c.464_466del NM_018389.4:c.503_505del |
NP_001138737.1:p.Phe155del NP_001138738.1:p.Phe155del NP_060859.4:p.Phe168del |
14/11422 | 0.00061 | 3 | Uncertain Significance | |
| View | 11 | 47364705 | 47364705 | G > T | MYBPC3 |
NM_000256.3:c.1227-9C>A |
1/9594 | 5.0e-05 | 3 | Uncertain Significance | ||
| View | 11 | 47603733 | 47603733 | G > C | NDUFS3 |
NM_004551.2:c.475G>C |
NP_004542.1:p.Val159Leu |
76/11422 | 0.00337 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 57428411 | 57428411 | C > T | CLP1 CLP1 |
NM_006831.2:c.781C>T NM_001142597.1:c.589C>T |
NP_006822.1:p.Arg261Ter NP_001136069.1:p.Arg197Ter |
2/9594 | 0.0001 | 2 | premature_stop | Uncertain Significance |
| View | 11 | 64514214 | 64514214 | G > A | PYGM PYGM |
NM_005609.2:c.2446C>T NM_001164716.1:c.2182C>T |
NP_005600.1:p.Arg816Cys NP_001158188.1:p.Arg728Cys |
4/10293 | 0.00019 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 65487792 | 65487792 | T > A | RNASEH2C |
NM_032193.3:c.269A>T |
NP_115569.2:p.Lys90Met |
2/11422 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 65487793 | 65487793 | T > C | RNASEH2C |
NM_032193.3:c.268A>G |
NP_115569.2:p.Lys90Glu |
2/11422 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66113531 | 66113531 | G > A | B4GAT1 |
NM_006876.2:c.1237C>T |
NP_006867.1:p.Arg413Ter |
1/9594 | 5.0e-05 | 3 | premature_stop | Uncertain Significance |
| View | 11 | 66113701 | 66113701 | A > G | B4GAT1 |
NM_006876.2:c.1067T>C |
NP_006867.1:p.Leu356Pro |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66282033 | 66282033 | C > G | BBS1 |
NM_024649.4:c.316C>G |
NP_078925.3:p.Leu106Val |
7/9594 | 0.00036 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66283077 | 66283077 | T > C | BBS1 |
NM_024649.4:c.479+20T>C |
2/9555 | 0.0001 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 11 | 66287166 | 66287166 | G > A | BBS1 |
NM_024649.4:c.670G>A |
NP_078925.3:p.Glu224Lys |
2/9594 | 0.0001 | 3 | Uncertain Significance | |
| View | 11 | 66293661 | 66293661 | G > A | BBS1 |
NM_024649.4:c.1178G>A |
NP_078925.3:p.Arg393Gln |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66616478 | 66616478 | C > A | PC PC PC |
NM_022172.2:c.3429G>T NM_000920.3:c.3429G>T NM_001040716.1:c.3429G>T |
NP_071504.2:p.Met1143Ile NP_000911.2:p.Met1143Ile NP_001035806.1:p.Met1143Ile |
2/11422 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66617122 | 66617122 | C > T | PC PC PC |
NM_022172.2:c.3107G>A NM_000920.3:c.3107G>A NM_001040716.1:c.3107G>A |
NP_071504.2:p.Arg1036His NP_000911.2:p.Arg1036His NP_001035806.1:p.Arg1036His |
24/11422 | 0.00105 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66631259 | 66631259 | C > T | PC PC PC |
NM_022172.2:c.1354G>A NM_000920.3:c.1354G>A NM_001040716.1:c.1354G>A |
NP_071504.2:p.Val452Ile NP_000911.2:p.Val452Ile NP_001035806.1:p.Val452Ile |
5/11422 | 0.00022 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 66633650 | 66633653 | CCGC > - | PC PC PC |
NM_022172.2:c.1185+5_1185+8del NM_000920.3:c.1185+5_1185+8del NM_001040716.1:c.1185+5_1185+8del |
12/11422 | 0.00053 | 3 | five_prime_flank | Uncertain Significance |