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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 | 109465090 | 109465090 | C > T | TRNAN-GUU GPSM2 |
NM_013296.4:c.1492C>T |
NP_037428.3:p.Arg498Ter |
8/13144 | 0.0003 | 1 | Pathogenic | |
| View | 1 | 152280023 | 152280023 | G > A | FLG |
NM_002016.1:c.7339C>T |
NP_002007.1:p.Arg2447Ter |
101/13106 | 0.00385 | 1 | Pathogenic | |
| View | 1 | 153790590 | 153790590 | G > A | GATAD2B |
NM_020699.2:c.655C>T |
NP_065750.1:p.Gln219Ter |
1/13144 | 4.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 1 | 154145448 | 154145448 | G > A | TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 |
NR_103461.1:n.521C>T NM_001278188.1:c.193C>T NM_001043353.1:c.391C>T NM_001278189.1:c.391C>T NM_001043352.1:c.391C>T NM_153649.3:c.391C>T NM_001043351.1:c.391C>T NM_001278191.1:c.121C>T NM_152263.3:c.502C>T NM_001278190.1:c.391C>T |
NP_001265117.1:p.Arg65Cys NP_001036818.1:p.Arg131Cys NP_001265118.1:p.Arg131Cys NP_001036817.1:p.Arg131Cys NP_705935.1:p.Arg131Cys NP_001036816.1:p.Arg131Cys NP_001265120.1:p.Arg41Cys NP_689476.2:p.Arg168Cys NP_001265119.1:p.Arg131Cys |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 1 | 154560601 | 154560601 | C > T | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.2926G>A NM_001025107.2:c.2134G>A ENST00000368474.4:c.3019G>A NM_001193495.1:c.2134G>A |
ENSP00000431794.1:p.Gly976Arg NP_001020278.1:p.Gly712Arg ENSP00000357459.4:p.Gly1007Arg NP_001180424.1:p.Gly712Arg |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 1 | 154574541 | 154574541 | G > C | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.562C>G NM_001025107.2:c.-309C>G ENST00000368474.4:c.577C>G NM_001193495.1:c.-309C>G |
ENSP00000431794.1:p.Pro188Ala ENSP00000357459.4:p.Pro193Ala |
81/13144 | 0.00308 | 1 | Pathogenic | |
| View | 1 | 155207244 | 155207244 | C > T | GBA GBA GBA GBA GBA |
NM_001171812.1:c.740G>A NM_001171811.1:c.626G>A NM_001005741.2:c.887G>A NM_001005742.2:c.887G>A NM_000157.3:c.887G>A |
NP_001165283.1:p.Arg247Gln NP_001165282.1:p.Arg209Gln NP_001005741.1:p.Arg296Gln NP_001005742.1:p.Arg296Gln NP_000148.2:p.Arg296Gln |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 1 | 155208006 | 155208006 | T > C | GBA GBA GBA GBA GBA |
NM_001171812.1:c.533A>G NM_001171811.1:c.419A>G NM_001005741.2:c.680A>G NM_001005742.2:c.680A>G NM_000157.3:c.680A>G |
NP_001165283.1:p.Asn178Ser NP_001165282.1:p.Asn140Ser NP_001005741.1:p.Asn227Ser NP_001005742.1:p.Asn227Ser NP_000148.2:p.Asn227Ser |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 1 | 155210420 | 155210420 | C > T | GBA GBA GBA GBA GBA |
NM_001171812.1:c.115+1G>A NM_001171811.1:c.-146-552G>A NM_001005741.2:c.115+1G>A NM_001005742.2:c.115+1G>A NM_000157.3:c.115+1G>A |
2/13810 | 7.0e-05 | 1 | Pathogenic | ||
| View | 1 | 155261636 | 155261636 | C > T | PKLR PKLR |
NM_181871.3:c.1436G>A NM_000298.5:c.1529G>A |
NP_870986.1:p.Arg479Gln NP_000289.1:p.Arg510Gln |
34/14969 | 0.00114 | 1 | Pathogenic | |
| View | 1 | 155874285 | 155874285 | A > C | RIT1 RIT1 RIT1 |
NM_006912.5:c.246T>G NM_001256820.1:c.138T>G NM_001256821.1:c.297T>G |
NP_008843.1:p.Phe82Leu NP_001243749.1:p.Phe46Leu NP_001243750.1:p.Phe99Leu |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 1 | 156106776 | 156106776 | G > A | LMNA LMNA LMNA LMNA LMNA LMNA |
NM_001257374.1:c.1109G>A NM_005572.3:c.1445G>A NR_047544.1:n.2086G>A NR_047545.1:n.1333G>A NM_170707.3:c.1445G>A NM_170708.3:c.1445G>A |
NP_001244303.1:p.Arg370Gln NP_005563.1:p.Arg482Gln NP_733821.1:p.Arg482Gln NP_733822.1:p.Arg482Gln |
1/13843 | 4.0e-05 | 1 | Pathogenic | |
| View | 1 | 160012247 | 160012247 | G > A | KCNJ10 |
NM_002241.4:c.76C>T |
NP_002232.2:p.Arg26Ter |
2/13144 | 0.00011 | 2 | premature_stop | Pathogenic |
| View | 1 | 169519049 | 169519049 | T > C | F5 |
ENST00000367797.3:c.1601A>G |
ENSP00000356771.3:p.Gln534Arg |
12661/13152 | 0.93997 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Pathogenic |
| View | 1 | 172411702 | 172411702 | G > A | C1orf105 PIGC PIGC |
NM_139240.3:c.22-2511G>A NM_002642.3:c.61C>T NM_153747.1:c.61C>T |
NP_002633.1:p.Arg21Ter NP_714969.1:p.Arg21Ter |
6/13105 | 0.00023 | 1 | Pathogenic | |
| View | 1 | 197059425 | 197059425 | G > A | ASPM ASPM |
NM_001206846.1:c.4975C>T NM_018136.4:c.9730C>T |
NP_001193775.1:p.Arg1659Ter NP_060606.3:p.Arg3244Ter |
3/13144 | 0.00011 | 1 | Pathogenic | |
| View | 1 | 197070520 | 197070521 | TC > - | ASPM ASPM |
NM_001206846.1:c.4066-5227_4066-5226del NM_018136.4:c.7860_7861del |
NP_060606.3:p.Gln2620HisfsTer16 |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 1 | 197071813 | 197071813 | G > A | ASPM ASPM |
NM_001206846.1:c.4066-6519C>T NM_018136.4:c.6568C>T |
NP_060606.3:p.Gln2190Ter |
4/13144 | 0.00015 | 1 | Pathogenic | |
| View | 1 | 197073821 | 197073821 | G > - | ASPM ASPM |
NM_001206846.1:c.4066-8527del NM_018136.4:c.4560del |
NP_060606.3:p.Tyr1521ThrfsTer5 |
1/13144 | 4.0e-05 | 1 | curation | Pathogenic |
| View | 1 | 197411405 | 197411405 | G > - | CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 |
ENST00000367400.3:c.3988del ENST00000538660.1:c.2380del ENST00000535699.1:c.3916del NR_047563.1:n.3989del ENST00000367399.2:c.3652del NR_047564.1:n.4197del |
ENSP00000356370.3:p.Glu1330SerfsTer11 ENSP00000438091.1:p.Glu794SerfsTer11 ENSP00000438786.1:p.Glu1306SerfsTer11 ENSP00000356369.2:p.Glu1218SerfsTer11 |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 1 | 209961939 | 209961948 | GAAATCACCA > - | IRF6 IRF6 |
NM_001206696.1:c.936_945del NM_006147.3:c.1221_1230del |
NP_001193625.1:p.Gly313HisfsTer26 NP_006138.1:p.Gly408HisfsTer26 |
1/13144 | 4.0e-05 | 1 | curation | Pathogenic |
| View | 1 | 209974734 | 209974734 | G > A | IRF6 IRF6 |
NM_001206696.1:c.-112+4558C>T NM_006147.3:c.25C>T |
NP_006138.1:p.Arg9Trp |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 1 | 216497582 | 216497582 | C > A | USH2A USH2A |
ENST00000366942.3:c.1256G>T ENST00000307340.3:c.1256G>T |
ENSP00000355909.3:p.Cys419Phe ENSP00000305941.3:p.Cys419Phe |
9/14969 | 0.0003 | 1 | Pathogenic | |
| View | 1 | 227172357 | 227172357 | G > A | COQ8A |
NM_020247.4:c.1506+1G>A |
2/13810 | 7.0e-05 | 1 | Pathogenic | ||
| View | 1 | 231124186 | 231124187 | - > T | ARV1 |
NM_022786.1:c.294+2dupT |
2/11983 | 8.0e-05 | 1 | curation | Pathogenic | |
| View | 1 | 235564868 | 235564879 | GGGAGCCACGAA > - | TBCE TBCE |
NM_001079515.1:c.155_166del NM_003193.3:c.155_166del |
NP_001072983.1:p.Ser52_Gly55del NP_003184.1:p.Ser52_Gly55del |
2/14969 | 0.00013 | 1 | Pathogenic | |
| View | 1 | 235840427 | 235840427 | C > A | LYST |
NM_000081.3:c.11002G>T |
NP_000072.2:p.Glu3668Ter |
4/14969 | 0.00013 | 1 | Pathogenic | |
| View | 1 | 244218246 | 244218246 | C > - | ZBTB18 ZBTB18 ZBTB18 |
NM_205768.2:c.1174del NM_001278196.1:c.1147del NM_006352.4:c.1147del |
NP_991331.1:p.His392ThrfsTer7 NP_001265125.1:p.His383ThrfsTer7 NP_006343.2:p.His383ThrfsTer7 |
1/13144 | 4.0e-05 | 2 | frameshift | Pathogenic |
| View | 1 | 245026981 | 245026982 | - > C | HNRNPU HNRNPU |
NM_031844.2:c.628dupG NM_004501.3:c.628dupG |
NP_114032.2:p.Ala210GlyfsTer4 NP_004492.2:p.Ala210GlyfsTer14 |
1/13144 | 4.0e-05 | 1 | curation | Pathogenic |
| View | 10 | 14987109 | 14987109 | G > A | DCLRE1C DCLRE1C DCLRE1C DCLRE1C |
NM_022487.2:c.-49C>T NM_001033855.1:c.241C>T NM_001033857.1:c.-120C>T NM_001033858.1:c.-442C>T |
NP_001029027.1:p.Arg81Ter |
1/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 10 | 43617416 | 43617416 | T > C | RET RET |
ENST00000340058.5:c.2753T>C ENST00000355710.3:c.2753T>C |
ENSP00000344798.4:p.Met918Thr ENSP00000347942.3:p.Met918Thr |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 10 | 50678470 | 50678470 | T > - | ERCC6 |
NM_000124.3:c.3536del |
NP_000115.1:p.Tyr1179LeufsTer22 |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 10 | 50691550 | 50691550 | G > A | ERCC6 |
NM_000124.3:c.1834C>T |
NP_000115.1:p.Arg612Ter |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 10 | 50713929 | 50713929 | C > A | ERCC6 |
NM_000124.3:c.1526+1G>T |
6/13810 | 0.00025 | 1 | Pathogenic | ||
| View | 10 | 50738843 | 50738843 | G > A | ERCC6-PGBD3 ERCC6-PGBD3 ERCC6 |
NM_001277059.1:c.466C>T NM_001277058.1:c.466C>T NM_000124.3:c.466C>T |
NP_001263988.1:p.Gln156Ter NP_001263987.1:p.Gln156Ter NP_000115.1:p.Gln156Ter |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 10 | 72360387 | 72360387 | G > A | PRF1 PRF1 |
NM_001083116.1:c.272C>T NM_005041.4:c.272C>T |
NP_001076585.1:p.Ala91Val NP_005032.2:p.Ala91Val |
1117/14969 | 0.03835 | 1 | curation | Pathogenic |
| View | 10 | 73082812 | 73082812 | G > A | SLC29A3 SLC29A3 SLC29A3 SLC29A3 |
NM_001174098.1:c.300+1G>A NM_018344.5:c.300+1G>A NR_033414.1:n.357+1G>A NR_033413.1:n.357+1G>A |
3/11983 | 0.00017 | 1 | Pathogenic | ||
| View | 10 | 73466716 | 73466716 | G > A | CDH23 CDH23 CDH23 |
NM_001171931.1:c.3016G>A NM_022124.5:c.3016G>A NM_001171930.1:c.3016G>A |
NP_001165402.1:p.Glu1006Lys NP_071407.4:p.Glu1006Lys NP_001165401.1:p.Glu1006Lys |
2/14969 | 7.0e-05 | 2 | Pathogenic | |
| View | 10 | 73500641 | 73500641 | C > - | CDH23 |
NM_022124.5:c.4552del |
NP_071407.4:p.Leu1518TrpfsTer20 |
3/14969 | 0.00013 | 2 | frameshift | Pathogenic |
| View | 10 | 79753125 | 79753125 | G > A | POLR3A |
NM_007055.3:c.2617C>T |
NP_008986.2:p.Arg873Ter |
5/13144 | 0.00019 | 1 | curation | Pathogenic |
| View | 10 | 79769273 | 79769273 | C > T | POLR3A |
NM_007055.3:c.1909+22G>A |
57/11948 | 0.00239 | 1 | curation | Pathogenic | |
| View | 10 | 79769277 | 79769277 | C > T | POLR3A |
NM_007055.3:c.1909+18G>A |
2/11944 | 8.0e-05 | 1 | Pathogenic | ||
| View | 10 | 89692769 | 89692769 | G > A | PTEN |
NM_000314.4:c.254-1G>A |
1/12682 | 4.0e-05 | 1 | Pathogenic | ||
| View | 10 | 89711913 | 89711913 | T > G | PTEN |
NM_000314.4:c.531T>G |
NP_000305.3:p.Tyr177Ter |
1/13843 | 4.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 10 | 97453654 | 97453654 | C > A | TCTN3 TCTN3 |
NM_015631.5:c.3G>T NM_001143973.1:c.3G>T |
NP_056446.4:p.Met1? NP_001137445.1:p.Met1? |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 10 | 101486855 | 101486855 | G > C | COX15 COX15 |
NM_004376.5:c.452C>G NM_078470.4:c.452C>G |
NP_004367.2:p.Ser151Ter NP_510870.1:p.Ser151Ter |
12/14969 | 0.0004 | 1 | Pathogenic | |
| View | 10 | 123274794 | 123274794 | T > C | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.1574A>G NM_001144913.1:c.1127A>G NM_001144914.1:c.788A>G NM_000141.4:c.1124A>G NM_023029.2:c.857A>G NM_001144919.1:c.860A>G NM_001144915.1:c.857A>G NM_001144916.1:c.779A>G NM_001144917.1:c.939+4699A>G NM_022970.3:c.1127A>G NM_001144918.1:c.779A>G |
NP_001138385.1:p.Tyr376Cys NP_001138386.1:p.Tyr263Cys NP_000132.3:p.Tyr375Cys NP_075418.1:p.Tyr286Cys NP_001138391.1:p.Tyr287Cys NP_001138387.1:p.Tyr286Cys NP_001138388.1:p.Tyr260Cys NP_075259.4:p.Tyr376Cys NP_001138390.1:p.Tyr260Cys |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 10 | 123276892 | 123276892 | C > T | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.1475G>A NM_001144913.1:c.1087+1304G>A NM_001144914.1:c.749-2059G>A NM_000141.4:c.1025G>A NM_023029.2:c.758G>A NM_001144919.1:c.820+1304G>A NM_001144915.1:c.758G>A NM_001144916.1:c.680G>A NM_001144917.1:c.939+2601G>A NM_022970.3:c.1087+1304G>A NM_001144918.1:c.680G>A |
NP_000132.3:p.Cys342Tyr NP_075418.1:p.Cys253Tyr NP_001138387.1:p.Cys253Tyr NP_001138388.1:p.Cys227Tyr NP_001138390.1:p.Cys227Tyr |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 10 | 123276892 | 123276892 | C > G | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.1475G>C NM_001144913.1:c.1087+1304G>C NM_001144914.1:c.749-2059G>C NM_000141.4:c.1025G>C NM_023029.2:c.758G>C NM_001144919.1:c.820+1304G>C NM_001144915.1:c.758G>C NM_001144916.1:c.680G>C NM_001144917.1:c.939+2601G>C NM_022970.3:c.1087+1304G>C NM_001144918.1:c.680G>C |
NP_000132.3:p.Cys342Ser NP_075418.1:p.Cys253Ser NP_001138387.1:p.Cys253Ser NP_001138388.1:p.Cys227Ser NP_001138390.1:p.Cys227Ser |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 11 | 299372 | 299372 | G > A | IFITM5 |
NM_001025295.2:c.119C>T |
NP_001020466.1:p.Ser40Leu |
1/13144 | 4.0e-05 | 1 | Pathogenic |