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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 | 151377422 | 151377422 | A > C | POGZ POGZ POGZ POGZ POGZ |
NM_207171.2:c.3930T>G NM_001194937.1:c.4062T>G NM_001194938.1:c.3903T>G NM_015100.3:c.4089T>G NM_145796.3:c.3804T>G |
NP_997054.1:p.His1310Gln NP_001181866.1:p.His1354Gln NP_001181867.1:p.His1301Gln NP_055915.2:p.His1363Gln NP_665739.3:p.His1268Gln |
33/13144 | 0.00126 | 4 | curation | Likely Benign |
| View | 1 | 151384132 | 151384132 | T > C | POGZ POGZ POGZ POGZ POGZ |
NM_207171.2:c.1736A>G NM_001194937.1:c.1868A>G NM_001194938.1:c.1709A>G NM_015100.3:c.1895A>G NM_145796.3:c.1610A>G |
NP_997054.1:p.Asn579Ser NP_001181866.1:p.Asn623Ser NP_001181867.1:p.Asn570Ser NP_055915.2:p.Asn632Ser NP_665739.3:p.Asn537Ser |
15/13144 | 0.00061 | 4 | curation | Likely Benign |
| View | 1 | 152279561 | 152279561 | C > T | FLG |
NM_002016.1:c.7801G>A |
NP_002007.1:p.Asp2601Asn |
47/13105 | 0.00179 | 4 | curation | Likely Benign |
| View | 1 | 152283646 | 152283646 | T > G | FLG |
NM_002016.1:c.3716A>C |
NP_002007.1:p.Glu1239Ala |
16/13105 | 0.00061 | 4 | curation | Likely Benign |
| View | 1 | 152284597 | 152284597 | A > C | FLG |
NM_002016.1:c.2765T>G |
NP_002007.1:p.Ile922Ser |
72/13105 | 0.00275 | 4 | curation | Likely Benign |
| View | 1 | 153784559 | 153784559 | G > A | GATAD2B |
NM_020699.2:c.1469C>T |
NP_065750.1:p.Ala490Val |
168/13144 | 0.00639 | 4 | curation | Likely Benign |
| View | 1 | 153790569 | 153790569 | G > C | GATAD2B |
NM_020699.2:c.676C>G |
NP_065750.1:p.Pro226Ala |
41/13144 | 0.00156 | 4 | curation | Likely Benign |
| View | 1 | 154544490 | 154544490 | G > C | CHRNB2 |
NM_000748.2:c.1191G>C |
NP_000739.1:p.Gln397His |
242/13144 | 0.00928 | 4 | curation | Likely Benign |
| View | 1 | 154544534 | 154544534 | G > A | CHRNB2 |
NM_000748.2:c.1235G>A |
NP_000739.1:p.Gly412Asp |
41/13144 | 0.00156 | 4 | curation | Likely Benign |
| View | 1 | 154548331 | 154548331 | T > C | CHRNB2 |
NM_000748.2:c.1432T>C |
NP_000739.1:p.Phe478Leu |
63/13144 | 0.0024 | 4 | curation | Likely Benign |
| View | 1 | 154570903 | 154570903 | T > C | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.1745A>G NM_001025107.2:c.875A>G ENST00000368474.4:c.1760A>G NM_001193495.1:c.875A>G |
ENSP00000431794.1:p.Tyr582Cys NP_001020278.1:p.Tyr292Cys ENSP00000357459.4:p.Tyr587Cys NP_001180424.1:p.Tyr292Cys |
82/13144 | 0.00316 | 4 | curation | Likely Benign |
| View | 1 | 154574115 | 154574115 | T > A | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.988A>T NM_001025107.2:c.118A>T ENST00000368474.4:c.1003A>T NM_001193495.1:c.118A>T |
ENSP00000431794.1:p.Ile330Phe NP_001020278.1:p.Ile40Phe ENSP00000357459.4:p.Ile335Phe NP_001180424.1:p.Ile40Phe |
27/13144 | 0.00103 | 4 | curation | Likely Benign |
| View | 1 | 154901525 | 154901525 | A > G | PMVK |
NM_006556.3:c.287T>C |
NP_006547.1:p.Val96Ala |
128/13105 | 0.00488 | 4 | curation | Likely Benign |
| View | 1 | 155206037 | 155206037 | G > A | GBA GBA GBA GBA GBA |
NM_001171812.1:c.1076C>T NM_001171811.1:c.962C>T NM_001005741.2:c.1223C>T NM_001005742.2:c.1223C>T NM_000157.3:c.1223C>T |
NP_001165283.1:p.Thr359Met NP_001165282.1:p.Thr321Met NP_001005741.1:p.Thr408Met NP_001005742.1:p.Thr408Met NP_000148.2:p.Thr408Met |
152/14969 | 0.00511 | 4 | curation | Likely Benign |
| View | 1 | 156100408 | 156100408 | C > T | LMNA LMNA LMNA LMNA LMNA LMNA |
NM_001257374.1:c.21C>T NM_005572.3:c.357C>T NR_047544.1:n.998C>T NR_047545.1:n.245C>T NM_170707.3:c.357C>T NM_170708.3:c.357C>T |
NP_001244303.1:p.Cys7= NP_005563.1:p.Arg119= NP_733821.1:p.Arg119= NP_733822.1:p.Arg119= |
75/13844 | 0.00274 | 4 | curation | Likely Benign |
| View | 1 | 156104965 | 156104965 | T > A | LMNA LMNA LMNA LMNA LMNA LMNA |
NM_001257374.1:c.475-13T>A NM_005572.3:c.811-13T>A NR_047544.1:n.1452-13T>A NR_047545.1:n.699-13T>A NM_170707.3:c.811-13T>A NM_170708.3:c.811-13T>A |
111/12654 | 0.00443 | 4 | curation | Likely Benign | |
| View | 1 | 156851382 | 156851382 | G > A | NTRK1 NTRK1 NTRK1 |
NM_001007792.1:c.2231G>A NM_002529.3:c.2339G>A NM_001012331.1:c.2321G>A |
NP_001007793.1:p.Arg744Gln NP_002520.2:p.Arg780Gln NP_001012331.1:p.Arg774Gln |
171/14969 | 0.00575 | 4 | curation | Likely Benign |
| View | 1 | 158587368 | 158587368 | T > C | SPTA1 |
NM_003126.2:c.6559A>G |
NP_003117.2:p.Lys2187Glu |
69/13144 | 0.00266 | 4 | curation | Likely Benign |
| View | 1 | 160090708 | 160090708 | T > A | ATP1A2 |
NM_000702.3:c.25T>A |
NP_000693.1:p.Tyr9Asn |
93/13144 | 0.00358 | 4 | curation | Likely Benign |
| View | 1 | 160093165 | 160093165 | G > A | ATP1A2 |
NM_000702.3:c.340G>A |
NP_000693.1:p.Gly114Ser |
21/13144 | 0.0008 | 4 | curation | Likely Benign |
| View | 1 | 160099144 | 160099144 | A > G | ATP1A2 |
NM_000702.3:c.1415A>G |
NP_000693.1:p.Asn472Ser |
1/13144 | 4.0e-05 | 4 | curation | Likely Benign |
| View | 1 | 160249362 | 160249362 | A > G | PEX19 PEX19 PEX19 PEX19 |
NM_001193644.1:c.827T>C NM_002857.3:c.879T>C NR_036493.1:n.820T>C NR_036492.1:n.796T>C |
NP_001180573.1:p.Val276Ala NP_002848.1:p.Gly293= |
166/13144 | 0.00639 | 4 | curation | Likely Benign |
| View | 1 | 160249857 | 160249857 | T > C | PEX19 PEX19 PEX19 PEX19 |
NM_001193644.1:c.771+3A>G NM_002857.3:c.771+3A>G NR_036493.1:n.712+3A>G NR_036492.1:n.688+3A>G |
141/11994 | 0.00588 | 4 | curation | Likely Benign | |
| View | 1 | 161180482 | 161180482 | G > A | NDUFS2 NDUFS2 |
NM_001166159.1:c.968G>A NM_004550.4:c.968G>A |
NP_001159631.1:p.Arg323Gln NP_004541.1:p.Arg323Gln |
111/13144 | 0.00422 | 4 | curation | Likely Benign |
| View | 1 | 161309335 | 161309336 | - > T | SDHC SDHC SDHC SDHC SDHC SDHC |
NM_003001.3:c.180-1038dupT NM_001035511.1:c.180-1038dupT NM_001035513.1:c.21-1038dupT NM_001278172.1:c.78-1038dupT NM_001035512.1:c.78-1038dupT NR_103459.1:n.210-6dupT |
60/11944 | 0.00268 | 4 | curation | Likely Benign | |
| View | 1 | 162740180 | 162740180 | C > T | DDR2 DDR2 |
NM_001014796.1:c.1382C>T NM_006182.2:c.1382C>T |
NP_001014796.1:p.Ser461Leu NP_006173.2:p.Ser461Leu |
26/13144 | 0.00099 | 4 | curation | Likely Benign |
| View | 1 | 171605387 | 171605387 | T > C | MYOC |
NM_000261.1:c.1193A>G |
NP_000252.1:p.Lys398Arg |
169/13144 | 0.0065 | 4 | curation | Likely Benign |
| View | 1 | 172411087 | 172411087 | G > A | C1orf105 PIGC PIGC |
NM_139240.3:c.22-3126G>A NM_002642.3:c.676C>T NM_153747.1:c.676C>T |
NP_002633.1:p.Arg226Trp NP_714969.1:p.Arg226Trp |
244/13105 | 0.00931 | 4 | curation | Likely Benign |
| View | 1 | 173823011 | 173823011 | C > A | DARS2 |
NM_018122.4:c.1642C>A |
NP_060592.2:p.Leu548Met |
70/13144 | 0.00266 | 4 | curation | Likely Benign |
| View | 1 | 181724549 | 181724549 | G > A | CACNA1E CACNA1E CACNA1E |
NM_001205294.1:c.3932+16G>A NM_001205293.1:c.3989+16G>A NM_000721.3:c.3989+16G>A |
120/11959 | 0.00506 | 4 | curation | Likely Benign | |
| View | 1 | 193219854 | 193219854 | C > A | CDC73 |
NM_024529.4:c.*12C>A |
73/11947 | 0.00306 | 4 | curation | Likely Benign | |
| View | 1 | 196757530 | 196757530 | T > C | CFHR3 CFHR3 |
NM_001166624.1:c.431-1645T>C NM_021023.5:c.613+2T>C |
44/11988 | 0.00217 | 4 | curation | Likely Benign | |
| View | 1 | 197059232 | 197059232 | C > A | ASPM ASPM |
NM_001206846.1:c.5075-18G>T NM_018136.4:c.9830-18G>T |
11/11946 | 0.00046 | 4 | curation | Likely Benign | |
| View | 1 | 197059382 | 197059382 | T > C | ASPM ASPM |
NM_001206846.1:c.5018A>G NM_018136.4:c.9773A>G |
NP_001193775.1:p.His1673Arg NP_060606.3:p.His3258Arg |
38/13144 | 0.00145 | 4 | curation | Likely Benign |
| View | 1 | 197060124 | 197060124 | A > G | ASPM ASPM |
NM_001206846.1:c.4737T>C NM_018136.4:c.9492T>C |
NP_001193775.1:p.Tyr1579= NP_060606.3:p.Tyr3164= |
19/13144 | 0.00072 | 4 | curation | Likely Benign |
| View | 1 | 197070594 | 197070594 | A > G | ASPM ASPM |
NM_001206846.1:c.4066-5300T>C NM_018136.4:c.7787T>C |
NP_060606.3:p.Val2596Ala |
99/13144 | 0.00377 | 4 | curation | Likely Benign |
| View | 1 | 197071654 | 197071654 | C > A | ASPM ASPM |
NM_001206846.1:c.4066-6360G>T NM_018136.4:c.6727G>T |
NP_060606.3:p.Val2243Leu |
40/13144 | 0.00152 | 4 | curation | Likely Benign |
| View | 1 | 197072640 | 197072640 | T > C | ASPM ASPM |
NM_001206846.1:c.4066-7346A>G NM_018136.4:c.5741A>G |
NP_060606.3:p.Gln1914Arg |
26/13144 | 0.00099 | 4 | curation | Likely Benign |
| View | 1 | 197074168 | 197074168 | G > A | ASPM ASPM |
NM_001206846.1:c.4066-8874C>T NM_018136.4:c.4213C>T |
NP_060606.3:p.Arg1405Cys |
125/13144 | 0.00479 | 4 | curation | Likely Benign |
| View | 1 | 197115345 | 197115345 | C > T | ASPM ASPM |
NM_001206846.1:c.223G>A NM_018136.4:c.223G>A |
NP_001193775.1:p.Ala75Thr NP_060606.3:p.Ala75Thr |
87/13144 | 0.00331 | 4 | curation | Likely Benign |
| View | 1 | 200534651 | 200534651 | T > G | KIF14 |
NM_014875.2:c.3808A>C |
NP_055690.1:p.Ser1270Arg |
154/13144 | 0.0059 | 4 | curation | Likely Benign |
| View | 1 | 201046058 | 201046058 | C > T | CACNA1S |
NM_000069.2:c.1817G>A |
NP_000060.2:p.Ser606Asn |
221/13381 | 0.00826 | 4 | curation | Likely Benign |
| View | 1 | 201046164 | 201046164 | C > T | CACNA1S |
NM_000069.2:c.1711G>A |
NP_000060.2:p.Val571Ile |
24/13381 | 0.0009 | 3 | non_synonymous | Likely Benign |
| View | 1 | 201058391 | 201058391 | A > G | CACNA1S |
NM_000069.2:c.895T>C |
NP_000060.2:p.Tyr299His |
78/13381 | 0.00299 | 4 | curation | Likely Benign |
| View | 1 | 201058513 | 201058513 | C > A | CACNA1S |
NM_000069.2:c.773G>T |
NP_000060.2:p.Gly258Val |
2/13381 | 7.0e-05 | 4 | curation | Likely Benign |
| View | 1 | 202572108 | 202572109 | CC > - | SYT2 SYT2 |
NM_177402.4:c.465+20_465+21del NM_001136504.1:c.465+20_465+21del |
715/12058 | 0.051 | 4 | curation | Likely Benign | |
| View | 1 | 204378654 | 204378654 | G > C | PPP1R15B |
NM_032833.3:c.1886C>G |
NP_116222.3:p.Ser629Cys |
34/13144 | 0.00129 | 4 | curation | Likely Benign |
| View | 1 | 204966474 | 204966474 | G > A | NFASC NFASC NFASC NFASC |
NM_001005388.2:c.2959G>A NM_001160331.1:c.3136+6040G>A NM_001160332.1:c.3091+6040G>A NM_015090.3:c.3076+8540G>A |
NP_001005388.2:p.Ala987Thr |
137/13105 | 0.00523 | 3 | non_synonymous | Likely Benign |
| View | 1 | 205128698 | 205128698 | G > A | DSTYK DSTYK |
NM_199462.2:c.2215C>T NM_015375.2:c.2215C>T |
NP_955749.1:p.Arg739Trp NP_056190.1:p.Arg739Trp |
48/13144 | 0.00183 | 4 | curation | Likely Benign |
| View | 1 | 207780585 | 207780585 | C > A | CR1 CR1 |
NM_000651.4:c.5811-11C>A NM_000573.3:c.4461-11C>A |
220/11968 | 0.00932 | 4 | curation | Likely Benign |