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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 | 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 |
2/11422 | 9.0e-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 |
30/11422 | 0.00131 | 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 |
1/9594 | 5.0e-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 |
1/10293 | 5.0e-05 | 1 | Pathogenic | |
| View | 1 | 160012247 | 160012247 | G > A | KCNJ10 |
NM_002241.4:c.76C>T |
NP_002232.2:p.Arg26Ter |
2/9594 | 0.00016 | 2 | premature_stop | Pathogenic |
| View | 1 | 169519049 | 169519049 | T > C | F5 |
ENST00000367797.3:c.1601A>G |
ENSP00000356771.3:p.Gln534Arg |
9300/9640 | 0.94212 | 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 |
4/9555 | 0.00021 | 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 |
3/9594 | 0.00016 | 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 |
2/9594 | 0.0001 | 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 |
1/9594 | 5.0e-05 | 1 | frameshift | 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 |
2/9594 | 0.0001 | 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 |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | 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 |
6/11422 | 0.00026 | 1 | Pathogenic | |
| View | 1 | 231124186 | 231124187 | - > T | ARV1 |
NM_022786.1:c.294+2dupT |
2/9594 | 0.0001 | 1 | donor_site | 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 |
2/11422 | 0.00018 | 1 | 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 |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | 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 |
1/11422 | 9.0e-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 |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 10 | 50678470 | 50678470 | T > - | ERCC6 |
NM_000124.3:c.3536del |
NP_000115.1:p.Tyr1179LeufsTer22 |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 10 | 50691550 | 50691550 | G > A | ERCC6 |
NM_000124.3:c.1834C>T |
NP_000115.1:p.Arg612Ter |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 10 | 50713929 | 50713929 | C > A | ERCC6 |
NM_000124.3:c.1526+1G>T |
6/11422 | 0.00031 | 1 | ClinVar pathogenic variant | 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 |
1/11422 | 4.0e-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 |
876/11422 | 0.03944 | 1 | ClinVar pathogenic variant | 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 |
3/9594 | 0.00021 | 1 | Pathogenic | ||
| View | 10 | 73500641 | 73500641 | C > - | CDH23 |
NM_022124.5:c.4552del |
NP_071407.4:p.Leu1518TrpfsTer20 |
3/11422 | 0.00018 | 2 | frameshift | Pathogenic |
| View | 10 | 79753125 | 79753125 | G > A | POLR3A |
NM_007055.3:c.2617C>T |
NP_008986.2:p.Arg873Ter |
5/9594 | 0.00026 | 1 | Pathogenic | |
| View | 10 | 79769273 | 79769273 | C > T | POLR3A |
NM_007055.3:c.1909+22G>A |
42/9555 | 0.0022 | 1 | Pathogenic | ||
| View | 10 | 79769277 | 79769277 | C > T | POLR3A |
NM_007055.3:c.1909+18G>A |
2/9555 | 0.0001 | 1 | Pathogenic | ||
| View | 10 | 89692769 | 89692769 | G > A | PTEN |
NM_000314.4:c.254-1G>A |
1/10293 | 5.0e-05 | 1 | Pathogenic | ||
| View | 10 | 89711913 | 89711913 | T > G | PTEN |
NM_000314.4:c.531T>G |
NP_000305.3:p.Tyr177Ter |
1/10293 | 5.0e-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? |
2/9594 | 0.0001 | 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 |
8/11422 | 0.00035 | 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 |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 11 | 299504 | 299504 | G > A | IFITM5 |
NM_001025295.2:c.-14C>T |
1/9555 | 5.0e-05 | 1 | Pathogenic | ||
| View | 11 | 534289 | 534289 | C > T | HRAS HRAS HRAS |
NM_001130442.1:c.34G>A NM_005343.2:c.34G>A NM_176795.3:c.34G>A |
NP_001123914.1:p.Gly12Ser NP_005334.1:p.Gly12Ser NP_789765.1:p.Gly12Ser |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 11 | 2181258 | 2181258 | C > T | INS INS-IGF2 INS-IGF2 INS INS |
NM_000207.2:c.188-31G>A NR_003512.3:n.246+757G>A NM_001042376.2:c.187+757G>A NM_001185098.1:c.188-31G>A NM_001185097.1:c.188-31G>A |
1/9555 | 5.0e-05 | 1 | Pathogenic | ||
| View | 11 | 2186957 | 2186957 | G > T | TH TH TH |
NM_199292.2:c.1234C>A NM_199293.2:c.1222C>A NM_000360.3:c.1141C>A |
NP_954986.2:p.Gln412Lys NP_954987.2:p.Gln408Lys NP_000351.2:p.Gln381Lys |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 11 | 2187233 | 2187233 | G > A | TH TH TH |
NM_199292.2:c.1196C>T NM_199293.2:c.1184C>T NM_000360.3:c.1103C>T |
NP_954986.2:p.Thr399Met NP_954987.2:p.Thr395Met NP_000351.2:p.Thr368Met |
1/11422 | 4.0e-05 | 1 | Pathogenic | |
| View | 11 | 2189135 | 2189135 | C > T | TH TH TH |
NM_199292.2:c.698G>A NM_199293.2:c.686G>A NM_000360.3:c.605G>A |
NP_954986.2:p.Arg233His NP_954987.2:p.Arg229His NP_000351.2:p.Arg202His |
5/11422 | 0.00026 | 1 | Pathogenic | |
| View | 11 | 2193087 | 2193087 | G > A | 2/11383 | 9.0e-05 | 1 | Pathogenic | ||||
| View | 11 | 2790111 | 2790111 | C > T | KCNQ1 KCNQ1 |
NM_000218.2:c.1552C>T NR_040711.2:n.1445C>T |
NP_000209.2:p.Arg518Ter |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 5247987 | 5247987 | G > - | HBB |
NM_000518.4:c.135del |
NP_000509.1:p.Phe46LeufsTer16 |
1/11422 | 4.0e-05 | 1 | Pathogenic | |
| View | 11 | 5247993 | 5247996 | AAAG > - | HBB |
NM_000518.4:c.126_129del |
NP_000509.1:p.Phe42LeufsTer19 |
2/11422 | 0.00013 | 1 | Pathogenic | |
| View | 11 | 5248232 | 5248232 | T > A | HBB |
NM_000518.4:c.20A>T |
NP_000509.1:p.Glu7Val |
88/11422 | 0.00416 | 1 | Pathogenic | |
| View | 11 | 5248233 | 5248233 | C > T | HBB |
NM_000518.4:c.19G>A |
NP_000509.1:p.Glu7Lys |
17/11422 | 0.00074 | 1 | Pathogenic | |
| View | 11 | 6638385 | 6638385 | C > G | TPP1 |
NM_000391.3:c.509-1G>C |
10/11422 | 0.00044 | 1 | Pathogenic | ||
| View | 11 | 17424218 | 17424218 | G > A | ABCC8 |
NM_000352.3:c.3640C>T |
NP_000343.2:p.Arg1214Trp |
3/11765 | 0.00013 | 1 | Pathogenic | |
| View | 11 | 36595629 | 36595629 | A > - | RAG1 |
ENST00000299440.5:c.775del |
ENSP00000299440.5:p.Ser259AlafsTer5 |
1/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 11 | 47359280 | 47359281 | - > C | MYBPC3 |
NM_000256.3:c.2373dupG |
NP_000247.2:p.Trp792ValfsTer41 |
0/0 | 0 | 1 | Pathogenic | |
| View | 11 | 47469631 | 47469631 | G > T | RAPSN RAPSN |
NM_032645.4:c.264C>A NM_005055.4:c.264C>A |
NP_116034.2:p.Asn88Lys NP_005046.2:p.Asn88Lys |
45/11422 | 0.00197 | 1 | Pathogenic |