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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 | 244217383 | 244217383 | A > T | ZBTB18 ZBTB18 ZBTB18 |
NM_205768.2:c.307A>T NM_001278196.1:c.280A>T NM_006352.4:c.280A>T |
NP_991331.1:p.Ile103Phe NP_001265125.1:p.Ile94Phe NP_006343.2:p.Ile94Phe |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 244217714 | 244217714 | A > G | ZBTB18 ZBTB18 ZBTB18 |
NM_205768.2:c.638A>G NM_001278196.1:c.611A>G NM_006352.4:c.611A>G |
NP_991331.1:p.His213Arg NP_001265125.1:p.His204Arg NP_006343.2:p.His204Arg |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |
| View | 1 | 245005295 | 245005295 | G > A | COX20 HNRNPU-AS1 |
NM_198076.4:c.92G>A NR_026778.1:n.3690C>T |
NP_932342.1:p.Arg31Gln |
7/8685 | 0.0004 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 294304 | 294304 | G > A | ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 |
NM_001202468.1:c.1256G>A NM_001202467.1:c.1094G>A NM_001202466.1:c.1091G>A NM_001202465.1:c.1001G>A NM_001202464.1:c.1094G>A NM_212479.3:c.1253G>A NM_006624.5:c.1256G>A |
NP_001189397.1:p.Ser419Asn NP_001189396.1:p.Ser365Asn NP_001189395.1:p.Ser364Asn NP_001189394.1:p.Ser334Asn NP_001189393.1:p.Ser365Asn NP_997644.2:p.Ser418Asn NP_006615.2:p.Ser419Asn |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 14950747 | 14950747 | G > A | DCLRE1C DCLRE1C DCLRE1C DCLRE1C |
NM_022487.2:c.1394C>T NM_001033855.1:c.1739C>T NM_001033857.1:c.1379C>T NM_001033858.1:c.1379C>T |
NP_071932.2:p.Pro465Leu NP_001029027.1:p.Pro580Leu NP_001029029.1:p.Pro460Leu NP_001029030.1:p.Pro460Leu |
5/10521 | 0.00024 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 26409656 | 26409656 | A > G | MYO3A |
NM_017433.4:c.1828A>G |
NP_059129.3:p.Ile610Val |
6/8685 | 0.00035 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 27009232 | 27009232 | G > A | PDSS1 |
NM_014317.3:c.553G>A |
NP_055132.2:p.Asp185Asn |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 28878720 | 28878720 | A > G | WAC WAC WAC |
NM_016628.4:c.437A>G NM_100486.3:c.437A>G NR_024557.2:n.911A>G |
NP_057712.2:p.Tyr146Cys NP_567823.1:p.Tyr146Cys |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 28903518 | 28903518 | A > C | WAC WAC WAC |
NM_016628.4:c.1460A>C NM_100486.3:c.1151A>C NR_024557.2:n.1934A>C |
NP_057712.2:p.Gln487Pro NP_567823.1:p.Gln384Pro |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 28905283 | 28905283 | G > A | WAC WAC WAC |
NM_016628.4:c.1738G>A NM_100486.3:c.1429G>A NR_024557.2:n.2212G>A |
NP_057712.2:p.Glu580Lys NP_567823.1:p.Glu477Lys |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 30630500 | 30630500 | C > T | MTPAP |
NM_018109.3:c.227G>A |
NP_060579.3:p.Arg76Gln |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 48382036 | 48382036 | A > T | RBP3 |
NM_002900.2:c.3613T>A |
NP_002891.1:p.Ser1205Thr |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 50678363 | 50678363 | C > T | ERCC6 |
NM_000124.3:c.3643G>A |
NP_000115.1:p.Ala1215Thr |
1/10521 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 50684346 | 50684346 | C > A | ERCC6 |
NM_000124.3:c.2297G>T |
NP_000115.1:p.Cys766Phe |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 50732618 | 50732618 | C > G | ERCC6-PGBD3 ERCC6-PGBD3 ERCC6 |
NM_001277059.1:c.858G>C NM_001277058.1:c.858G>C NM_000124.3:c.858G>C |
NP_001263988.1:p.Lys286Asn NP_001263987.1:p.Lys286Asn NP_000115.1:p.Lys286Asn |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 55569084 | 55569110 | del > - | PCDH15 PCDH15 PCDH15 PCDH15 |
NM_001142769.1:c.4715_4741del NM_001142770.1:c.*130_*156del NM_001142772.1:c.4482+1206_4482+1232del NM_001142771.1:c.4497+1206_4497+1232del |
NP_001136241.1:p.Gly1572_Glu1371del |
3/8685 | 0.00017 | 3 | in_frame_indel | Uncertain Significance |
| View | 10 | 61835217 | 61835217 | T > C | ANK3 ANK3 ANK3 ANK3 |
NM_001204403.1:c.4387+5078A>G NM_001204404.1:c.4408+5078A>G NM_001149.3:c.1807+5078A>G NM_020987.3:c.5422A>G |
NP_066267.2:p.Ile1808Val |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 61955908 | 61955908 | C > T | ANK3 ANK3 ANK3 |
NM_001204403.1:c.1864G>A NM_001204404.1:c.1831G>A NM_020987.3:c.1882G>A |
NP_001191332.1:p.Ala622Thr NP_001191333.1:p.Ala611Thr NP_066267.2:p.Ala628Thr |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 61962857 | 61962857 | G > A | ANK3 ANK3 ANK3 |
NM_001204403.1:c.1277C>T NM_001204404.1:c.1244C>T NM_020987.3:c.1295C>T |
NP_001191332.1:p.Ser426Leu NP_001191333.1:p.Ser415Leu NP_066267.2:p.Ser432Leu |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 70406346 | 70406346 | A > G | TET1 |
NM_030625.2:c.3860A>G |
NP_085128.2:p.Gln1287Arg |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 72195155 | 72195155 | C > T | NODAL |
NM_018055.4:c.778G>A |
NP_060525.3:p.Gly260Arg |
3/8685 | 0.00017 | 3 | Uncertain Significance | |
| View | 10 | 73587868 | 73587868 | A > C | PSAP PSAP PSAP |
NM_001042465.1:c.623T>G NM_001042466.1:c.623T>G NM_002778.2:c.623T>G |
NP_001035930.1:p.Ile208Ser NP_001035931.1:p.Ile208Ser NP_002769.1:p.Ile208Ser |
8/10521 | 0.00038 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 73767307 | 73767307 | C > T | CHST3 |
NM_004273.4:c.518C>T |
NP_004264.2:p.Ser173Phe |
2/8939 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 76729526 | 76729526 | G > A | KAT6B KAT6B KAT6B |
NM_001256469.1:c.839G>A NM_012330.3:c.839G>A NM_001256468.1:c.839G>A |
NP_001243398.1:p.Arg280Lys NP_036462.2:p.Arg280Lys NP_001243397.1:p.Arg280Lys |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 89622108 | 89622108 | A > C | KLLN |
NM_001126049.1:c.137T>G |
NP_001119521.1:p.Phe46Cys |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 95930939 | 95930939 | C > T | PLCE1 PLCE1 |
NM_016341.3:c.1495C>T NM_001165979.1:c.571C>T |
NP_057425.3:p.Arg499Cys NP_001159451.1:p.Arg191Cys |
42/10521 | 0.002 | 3 | Uncertain Significance | |
| View | 10 | 97371177 | 97371177 | T > C | ALDH18A1 ALDH18A1 |
NM_001017423.1:c.1940A>G NM_002860.3:c.1946A>G |
NP_001017423.1:p.Lys647Arg NP_002851.2:p.Lys649Arg |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 99502913 | 99502916 | TGAA > - | ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 |
NM_001174119.1:c.173-1570_173-1567del NM_144588.6:c.263_266del NM_001174122.1:c.197+4485_197+4488del NM_001002261.3:c.263_266del NM_001174121.1:c.-26-1570_-26-1567del NM_001002262.3:c.263_266del NM_001174120.1:c.197+4485_197+4488del |
NP_653189.3:p.Asn88ArgfsTer7 NP_001002261.1:p.Asn88ArgfsTer7 NP_001002262.1:p.Asn88ArgfsTer7 |
3/8685 | 0.00017 | 2 | frameshift | Uncertain Significance |
| View | 10 | 103534548 | 103534548 | T > G | FGF8 FGF8 FGF8 FGF8 FGF8 |
NM_033163.3:c.278A>C NM_006119.4:c.191A>C NM_033165.3:c.158A>C NM_033164.3:c.245A>C NM_001206389.1:c.-35A>C |
NP_149353.1:p.His93Pro NP_006110.1:p.His64Pro NP_149355.1:p.His53Pro NP_149354.1:p.His82Pro |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 111893356 | 111893358 | AAG > - | ADD3 ADD3 ADD3 |
NM_001121.2:c.2005_2007del NM_019903.3:c.2005_2007del NM_016824.3:c.2101_2103del |
NP_001112.2:p.Lys669del NP_063968.1:p.Lys669del NP_058432.1:p.Lys701del |
2/8646 | 0.00012 | 3 | in_frame_indel | Uncertain Significance |
| View | 10 | 111893374 | 111893377 | TAAA > - | ADD3 ADD3 ADD3 |
NM_001121.2:c.*2_*5del NM_019903.3:c.*2_*5del NM_016824.3:c.*2_*5del |
6/8646 | 0.00035 | 3 | disruption_of_stop | Uncertain Significance | |
| View | 10 | 124812634 | 124812634 | A > G | ACADSB |
NM_001609.3:c.1186A>G |
NP_001600.1:p.Lys396Glu |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 135186831 | 135186831 | C > T | ECHS1 |
NM_004092.3:c.7G>A |
NP_004083.3:p.Ala3Thr |
6/8685 | 0.00035 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 375711 | 375711 | C > T | B4GALNT4 |
NM_178537.4:c.923C>T |
NP_848632.2:p.Pro308Leu |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 654011 | 654011 | C > T | DEAF1 |
NM_021008.2:c.1544G>A |
NP_066288.2:p.Cys515Tyr |
2/8685 | 0.00012 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 686935 | 686935 | T > C | DEAF1 |
NM_021008.2:c.727A>G |
NP_066288.2:p.Met243Val |
65/8685 | 0.00374 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 824794 | 824794 | G > C | PNPLA2 |
NM_020376.3:c.1447G>C |
NP_065109.1:p.Gly483Arg |
10/8685 | 0.00058 | 3 | Uncertain Significance | |
| View | 11 | 1780857 | 1780857 | C > A | CTSD |
NM_001909.4:c.241G>T |
NP_001900.1:p.Gly81Trp |
1/10521 | 5.0e-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 |
2/8685 | 0.00012 | 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 |
10/8685 | 0.00058 | 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 |
49/10521 | 0.00233 | 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 |
16/10521 | 0.00076 | 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 |
1/10521 | 5.0e-05 | 3 | Uncertain Significance | |
| View | 11 | 6645388 | 6645388 | T > C | DCHS1 |
ENST00000299441.3:c.7519A>G |
ENSP00000299441.3:p.Thr2507Ala |
3/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6651470 | 6651470 | G > A | DCHS1 |
ENST00000299441.3:c.4555C>T |
ENSP00000299441.3:p.Pro1519Ser |
29/8685 | 0.00167 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6661299 | 6661299 | C > T | DCHS1 |
ENST00000299441.3:c.1546G>A |
ENSP00000299441.3:p.Ala516Thr |
9/8685 | 0.00052 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6661742 | 6661742 | C > T | DCHS1 |
ENST00000299441.3:c.1103G>A |
ENSP00000299441.3:p.Ser368Asn |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17415289 | 17415289 | C > A | ABCC8 |
NM_000352.3:c.4563G>T |
NP_000343.2:p.Lys1521Asn |
14/10773 | 0.00065 | 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 |
4/10521 | 0.00019 | 3 | Uncertain Significance | |
| View | 11 | 17580151 | 17580151 | C > T | OTOG |
NM_001277269.1:c.1099C>T |
NP_001264198.1:p.Pro367Ser |
1/8676 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |