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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 | 89622108 | 89622108 | A > C | KLLN |
NM_001126049.1:c.137T>G |
NP_001119521.1:p.Phe46Cys |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 95422384 | 95422384 | G > T | PDE6C |
NM_006204.3:c.2351G>T |
NP_006195.3:p.Cys784Phe |
2/13144 | 8.0e-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 |
64/14969 | 0.00217 | 3 | curation | 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 |
6/13144 | 0.00023 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 97442464 | 97442464 | C > G | TCTN3 TCTN3 |
NM_015631.5:c.1396G>C NM_001143973.1:c.952G>C |
NP_056446.4:p.Asp466His NP_001137445.1:p.Asp318His |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 97453207 | 97453207 | T > G | TCTN3 TCTN3 |
NM_015631.5:c.283A>C NM_001143973.1:c.283A>C |
NP_056446.4:p.Thr95Pro NP_001137445.1:p.Thr95Pro |
4/13144 | 0.00015 | 3 | curation | Uncertain Significance |
| View | 10 | 99079938 | 99079938 | C > T | FRAT1 |
NM_005479.3:c.728C>T |
NP_005470.2:p.Pro243Leu |
6/13105 | 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 |
3/13144 | 0.00011 | 1 | Uncertain Significance | |
| View | 10 | 102749544 | 102749544 | C > G | TWNK TWNK TWNK TWNK |
NM_001163813.1:c.25C>G NM_001163814.1:c.25C>G NM_001163812.1:c.1387C>G NM_021830.4:c.1387C>G |
NP_001157285.1:p.Arg9Gly NP_001157286.1:p.Arg9Gly NP_001157284.1:p.Arg463Gly NP_068602.2:p.Arg463Gly |
3/14969 | 0.0001 | 3 | curation | 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 |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 104161598 | 104161598 | G > A | NFKB2 NFKB2 NFKB2 |
NR_048560.1:n.2953G>A ENST00000369966.3:c.2390G>A ENST00000189444.6:c.2390G>A |
ENSP00000358983.3:p.Arg797His ENSP00000189444.6:p.Arg797His |
4/13144 | 0.00015 | 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 |
2/13105 | 8.0e-05 | 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 |
10/13105 | 0.00038 | 3 | curation | Uncertain Significance | |
| View | 10 | 112660264 | 112660265 | - > ATC | BBIP1 BBIP1 BBIP1 BBIP1 BBIP1 |
NM_001195305.1:c.130_132dupGAT NM_001195304.1:c.287_289dupGAT NM_001195307.1:c.55_57dupGAT NM_001243783.1:c.64_66dupGAT NM_001195306.1:c.130_132dupGAT |
NP_001182234.1:p.Asp44dup NP_001182233.1:p.Arg96_Tyr97insTer NP_001182236.1:p.Asp19dup NP_001230712.1:p.Asp22dup NP_001182235.1:p.Asp44dup |
2/13144 | 8.0e-05 | 3 | premature_stop | Uncertain Significance |
| View | 10 | 122668224 | 122668224 | G > T | WDR11 |
NM_018117.11:c.3674G>T |
NP_060587.8:p.Ter1225LeuextTer9 |
1/13144 | 4.0e-05 | 2 | disruption_of_stop | Uncertain Significance |
| View | 10 | 123274641 | 123274641 | C > T | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.1727G>A NM_001144913.1:c.1280G>A NM_001144914.1:c.941G>A NM_000141.4:c.1277G>A NM_023029.2:c.1010G>A NM_001144919.1:c.1013G>A NM_001144915.1:c.1010G>A NM_001144916.1:c.932G>A NM_001144917.1:c.939+4852G>A NM_022970.3:c.1280G>A NM_001144918.1:c.932G>A |
NP_001138385.1:p.Arg427Lys NP_001138386.1:p.Arg314Lys NP_000132.3:p.Arg426Lys NP_075418.1:p.Arg337Lys NP_001138391.1:p.Arg338Lys NP_001138387.1:p.Arg337Lys NP_001138388.1:p.Arg311Lys NP_075259.4:p.Arg427Lys NP_001138390.1:p.Arg311Lys |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 123353232 | 123353232 | C > G | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.747G>C NM_001144913.1:c.100G>C NM_001144914.1:c.100G>C NM_000141.4:c.100G>C NM_023029.2:c.100G>C NM_001144919.1:c.100G>C NM_001144915.1:c.100G>C NM_001144916.1:c.100G>C NM_001144917.1:c.100G>C NM_022970.3:c.100G>C NM_001144918.1:c.100G>C |
NP_001138385.1:p.Glu34Gln NP_001138386.1:p.Glu34Gln NP_000132.3:p.Glu34Gln NP_075418.1:p.Glu34Gln NP_001138391.1:p.Glu34Gln NP_001138387.1:p.Glu34Gln NP_001138388.1:p.Glu34Gln NP_001138389.1:p.Glu34Gln NP_075259.4:p.Glu34Gln NP_001138390.1:p.Glu34Gln |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 10 | 124812634 | 124812634 | A > G | ACADSB |
NM_001609.3:c.1186A>G |
NP_001600.1:p.Lys396Glu |
5/13144 | 0.00019 | 1 | Uncertain Significance | |
| View | 10 | 135186831 | 135186831 | C > T | ECHS1 |
NM_004092.3:c.7G>A |
NP_004083.3:p.Ala3Thr |
7/13144 | 0.00027 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 375711 | 375711 | C > T | B4GALNT4 |
NM_178537.4:c.923C>T |
NP_848632.2:p.Pro308Leu |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 654011 | 654011 | C > T | DEAF1 |
NM_021008.2:c.1544G>A |
NP_066288.2:p.Cys515Tyr |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 686935 | 686935 | T > C | DEAF1 |
NM_021008.2:c.727A>G |
NP_066288.2:p.Met243Val |
111/13144 | 0.00422 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 824794 | 824794 | G > C | PNPLA2 |
NM_020376.3:c.1447G>C |
NP_065109.1:p.Gly483Arg |
14/13144 | 0.00053 | 3 | curation | Uncertain Significance |
| View | 11 | 1780857 | 1780857 | C > A | CTSD |
NM_001909.4:c.241G>T |
NP_001900.1:p.Gly81Trp |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 1861852 | 1861852 | C > T | TNNI2 TNNI2 TNNI2 |
NM_001145829.1:c.152C>T NM_001145841.1:c.152C>T NM_003282.3:c.152C>T |
NP_001139301.1:p.Pro51Leu NP_001139313.1:p.Pro51Leu NP_003273.1:p.Pro51Leu |
1/13144 | 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 |
2/13144 | 8.0e-05 | 3 | curation | 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 |
14/13144 | 0.00053 | 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 |
69/14969 | 0.0023 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 4130896 | 4130896 | A > G | RRM1 |
NM_001033.3:c.410A>G |
NP_001024.1:p.Tyr137Cys |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 5255650 | 5255650 | G > A | HBD |
NM_000519.3:c.14C>T |
NP_000510.1:p.Thr5Ile |
40/13145 | 0.00152 | 3 | Uncertain Significance | |
| View | 11 | 6411836 | 6411836 | G > A | SMPD1 SMPD1 |
NM_000543.4:c.8G>A NM_001007593.2:c.8G>A |
NP_000534.3:p.Arg3His NP_001007594.2:p.Arg3His |
23/14969 | 0.00077 | 3 | 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 |
24/14969 | 0.0008 | 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 |
2/14969 | 7.0e-05 | 3 | curation | Uncertain Significance |
| View | 11 | 6640618 | 6640618 | G > T | TPP1 |
NM_000391.3:c.14C>A |
NP_000382.3:p.Ala5Asp |
28/14969 | 0.00097 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6645388 | 6645388 | T > C | DCHS1 |
ENST00000299441.3:c.7519A>G |
ENSP00000299441.3:p.Thr2507Ala |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6651470 | 6651470 | G > A | DCHS1 |
ENST00000299441.3:c.4555C>T |
ENSP00000299441.3:p.Pro1519Ser |
47/13144 | 0.00179 | 1 | Uncertain Significance | |
| View | 11 | 6661299 | 6661299 | C > T | DCHS1 |
ENST00000299441.3:c.1546G>A |
ENSP00000299441.3:p.Ala516Thr |
16/13144 | 0.00061 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 6661742 | 6661742 | C > T | DCHS1 |
ENST00000299441.3:c.1103G>A |
ENSP00000299441.3:p.Ser368Asn |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 8016868 | 8016868 | A > G | EIF3F |
NM_003754.2:c.950A>G |
NP_003745.1:p.Lys317Arg |
1/13105 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 9200585 | 9200585 | A > T | DENND5A DENND5A |
NM_015213.3:c.1491T>A NM_001243254.1:c.1491T>A |
NP_056028.2:p.Asp497Glu NP_001230183.1:p.Asp497Glu |
12/13144 | 0.00046 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17415289 | 17415289 | C > A | ABCC8 |
NM_000352.3:c.4563G>T |
NP_000343.2:p.Lys1521Asn |
16/15408 | 0.00052 | 3 | curation | Uncertain Significance |
| View | 11 | 17418874 | 17418874 | G > C | ABCC8 |
NM_000352.3:c.3868-14C>G |
2/13771 | 7.0e-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 |
4/14969 | 0.00013 | 3 | curation | Uncertain Significance |
| View | 11 | 17580151 | 17580151 | C > T | OTOG |
NM_001277269.1:c.1099C>T |
NP_001264198.1:p.Pro367Ser |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17627538 | 17627538 | C > T | OTOG |
NM_001277269.1:c.4048C>T |
NP_001264198.1:p.Arg1350Trp |
9/13144 | 0.00034 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17632921 | 17632921 | C > T | OTOG |
NM_001277269.1:c.6110C>T |
NP_001264198.1:p.Ala2037Val |
39/13144 | 0.00148 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 17667402 | 17667402 | C > T | OTOG |
NM_001277269.1:c.8689C>T |
NP_001264198.1:p.Arg2897Cys |
2/13144 | 8.0e-05 | 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 |
2/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 19259407 | 19259407 | A > T | E2F8 E2F8 E2F8 |
NM_001256372.1:c.288T>A NM_001256371.1:c.288T>A NM_024680.3:c.288T>A |
NP_001243301.1:p.Cys96Ter NP_001243300.1:p.Cys96Ter NP_078956.2:p.Cys96Ter |
1/13105 | 4.0e-05 | 2 | premature_stop | 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 |
1/13144 | 4.0e-05 | 2 | frameshift | Uncertain Significance |