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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 12 | 32777929 | 32777929 | A > G | FGD4 |
NM_139241.2:c.1562A>G |
NP_640334.2:p.Asp521Gly |
8/6913 | 0.00058 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 32900298 | 32900299 | - > T | YARS2 |
NM_001040436.2:c.1275-2dupA |
17/5119 | 0.00166 | 2 | acceptor_site | Uncertain Significance | |
| View | 12 | 42854070 | 42854070 | T > G | PRICKLE1 |
NM_153026.2:c.2037A>C NM_001144883.1:c.2037A>C NM_001144882.1:c.2037A>C NM_001144881.1:c.2037A>C |
NP_694571.2:p.Arg679Ser NP_001138355.1:p.Arg679Ser NP_001138354.1:p.Arg679Ser NP_001138353.1:p.Arg679Ser |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 49427210 | 49427210 | C > T | KMT2D |
NM_003482.3:c.11278G>A |
NP_003473.3:p.Gly3760Ser |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 49428255 | 49428255 | C > T | KMT2D |
NM_003482.3:c.10445G>A |
NP_003473.3:p.Arg3482Gln |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 49430947 | 49430947 | T > G | KMT2D |
NM_003482.3:c.10192A>C |
NP_003473.3:p.Met3398Leu |
9/5119 | 0.00088 | 1 | Uncertain Significance | |
| View | 12 | 49431477 | 49431477 | G > T | KMT2D |
NM_003482.3:c.9662C>A |
NP_003473.3:p.Thr3221Asn |
3/5119 | 0.00029 | 4 | non_synonymous | Uncertain Significance |
| View | 12 | 49434324 | 49434324 | C > T | KMT2D |
NM_003482.3:c.7229G>A |
NP_003473.3:p.Arg2410Gln |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 49440056 | 49440056 | G > A | KMT2D |
NM_003482.3:c.4570C>T |
NP_003473.3:p.Arg1524Cys |
4/5119 | 0.00039 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 51072543 | 51072543 | G > C | DIP2B |
NM_173602.2:c.998G>C |
NP_775873.2:p.Cys333Ser |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 52162895 | 52162895 | G > A | SCN8A |
NM_014191.3:c.3148G>A NM_001177984.2:c.3148G>A |
NP_055006.1:p.Gly1050Ser NP_001171455.1:p.Gly1050Ser |
3/5119 | 0.00029 | 3 | Uncertain Significance | |
| View | 12 | 52183055 | 52183055 | C > G | SCN8A |
NM_014191.3:c.4282-10C>G NM_001177984.2:c.4159-10C>G |
2/5119 | 0.0002 | 3 | polypyrimidine_tract | Uncertain Significance | |
| View | 12 | 52307831 | 52307831 | G > A | ACVRL1 |
NM_001077401.1:c.599G>A NM_000020.2:c.599G>A |
NP_001070869.1:p.Arg200Gln NP_000011.2:p.Arg200Gln |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 56398479 | 56398479 | G > A | SUOX |
NM_001032386.1:c.1306G>A NM_000456.2:c.1306G>A NM_001032387.1:c.1306G>A |
NP_001027558.1:p.Glu436Lys NP_000447.2:p.Glu436Lys NP_001027559.1:p.Glu436Lys |
3/6913 | 0.00022 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 57975714 | 57975714 | C > A | KIF5A |
NM_004984.2:c.2971C>A |
NP_004975.2:p.Gln991Lys |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 58186824 | 58186824 | G > C | TSFM |
NM_001172696.1:c.602G>C NM_005726.5:c.539G>C NM_001172697.1:c.539G>C NM_001172695.1:c.484-3136G>C |
NP_001166167.1:p.Gly201Ala NP_005717.3:p.Gly180Ala NP_001166168.1:p.Gly180Ala |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 64173810 | 64173810 | G > C | TMEM5 |
NM_014254.2:c.70G>C |
NP_055069.1:p.Ala24Pro |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 65633794 | 65633794 | G > A | LEMD3 |
NM_001167614.1:c.2004G>A NM_014319.4:c.2007G>A |
NP_001161086.1:p.Met668Ile NP_055134.2:p.Met669Ile |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 80752642 | 80752642 | T > G | OTOGL |
NM_173591.3:c.6202T>G |
NP_775862.3:p.Cys2068Gly |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 88452656 | 88452656 | T > C | CEP290 |
ENST00000552810.1:c.6787A>G |
ENSP00000448012.1:p.Ser2263Gly |
2/6913 | 0.00014 | 3 | Uncertain Significance | |
| View | 12 | 88453691 | 88453691 | C > T | CEP290 |
ENST00000552810.1:c.6629G>A |
ENSP00000448012.1:p.Arg2210His |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 88472949 | 88472949 | G > A | CEP290 |
ENST00000552810.1:c.5284C>T |
ENSP00000448012.1:p.Arg1762Cys |
3/6913 | 0.00022 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 88481649 | 88481649 | C > T | CEP290 |
ENST00000552810.1:c.4102G>A |
ENSP00000448012.1:p.Asp1368Asn |
8/6913 | 0.00058 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 88496626 | 88496626 | C > T | CEP290 |
ENST00000552810.1:c.2980G>A |
ENSP00000448012.1:p.Glu994Lys |
39/6913 | 0.00282 | 3 | Uncertain Significance | |
| View | 12 | 88520188 | 88520188 | T > C | CEP290 |
ENST00000552810.1:c.970A>G |
ENSP00000448012.1:p.Ile324Val |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 88524191 | 88524191 | G > T | CEP290 |
ENST00000552810.1:c.523C>A |
ENSP00000448012.1:p.Gln175Lys |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 88532979 | 88532979 | A > T | CEP290 |
ENST00000552810.1:c.251-11T>A |
39/6895 | 0.0029 | 3 | polypyrimidine_tract | Uncertain Significance | |
| View | 12 | 103288576 | 103288576 | T > G | PAH |
ENST00000553106.1:c.289A>C |
ENSP00000448059.1:p.Ile97Leu |
1/6913 | 7.0e-05 | 3 | Uncertain Significance | |
| View | 12 | 105519873 | 105519873 | G > A | KIAA1033 |
NM_015275.1:c.878G>A |
NP_056090.1:p.Arg293Gln |
27/5119 | 0.00264 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 105520097 | 105520097 | T > C | KIAA1033 |
NM_015275.1:c.995T>C |
NP_056090.1:p.Ile332Thr |
12/5119 | 0.00117 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 105538108 | 105538108 | G > A | KIAA1033 |
NM_015275.1:c.2054G>A |
NP_056090.1:p.Arg685Gln |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 110252488 | 110252488 | A > T | TRPV4 |
NM_001177433.1:c.114T>A NM_021625.4:c.114T>A NM_147204.2:c.114T>A NM_001177428.1:c.114T>A NM_001177431.1:c.79+35T>A |
NP_001170904.1:p.Asn38Lys NP_067638.3:p.Asn38Lys NP_671737.1:p.Asn38Lys NP_001170899.1:p.Asn38Lys |
4/5119 | 0.00039 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 111085046 | 111085046 | A > G | TCTN1 |
NM_001082537.2:c.1525A>G NM_001173975.1:c.1357A>G NM_001082538.2:c.1540A>G NM_001173976.1:c.1213A>G NM_024549.5:c.1483A>G |
NP_001076006.1:p.Ile509Val NP_001167446.1:p.Ile453Val NP_001076007.1:p.Ile514Val NP_001167447.1:p.Ile405Val NP_078825.2:p.Ile495Val |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 124172643 | 124172643 | C > A | TCTN2 |
NM_001143850.2:c.807C>A NM_024809.4:c.810C>A |
NP_001137322.1:p.Asp269Glu NP_079085.2:p.Asp270Glu |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 124210793 | 124210793 | T > G | ATP6V0A2 |
NM_012463.3:c.482T>G |
NP_036595.2:p.Leu161Trp |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 133263886 | 133263886 | C > G | POLE |
NM_006231.2:c.16G>C |
NP_006222.2:p.Gly6Arg |
34/5119 | 0.00332 | 3 | non_synonymous | Uncertain Significance |
| View | 12 | 133331689 | 133331689 | C > T | ANKLE2 |
NM_015114.1:c.212G>A |
NP_055929.1:p.Arg71Gln |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |
| View | 13 | 23909622 | 23909622 | G > T | SACS |
NM_014363.5:c.8393C>A NM_001278055.1:c.7952C>A |
NP_055178.3:p.Pro2798Gln NP_001264984.1:p.Pro2651Gln |
40/6913 | 0.00297 | 3 | Uncertain Significance | |
| View | 13 | 23911503 | 23911503 | G > C | SACS |
NM_014363.5:c.6512C>G NM_001278055.1:c.6071C>G |
NP_055178.3:p.Ala2171Gly NP_001264984.1:p.Ala2024Gly |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |
| View | 13 | 23912173 | 23912173 | C > T | SACS |
NM_014363.5:c.5842G>A NM_001278055.1:c.5401G>A |
NP_055178.3:p.Asp1948Asn NP_001264984.1:p.Asp1801Asn |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 13 | 25486960 | 25486960 | T > C | CENPJ |
NR_047595.1:n.399A>G NR_047594.1:n.399A>G NM_018451.4:c.204A>G |
NP_060921.3:p.Ile68Met |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |
| View | 13 | 25946436 | 25946436 | G > A | ATP8A2 |
NM_016529.4:c.76+10G>A |
13/5119 | 0.00127 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 13 | 32906593 | 32906593 | C > A | BRCA2 |
ENST00000380152.3:c.978C>A |
ENSP00000369497.3:p.Ser326Arg |
12/5119 | 0.00117 | 3 | Uncertain Significance | |
| View | 13 | 32972525 | 32972525 | C > T | BRCA2 |
ENST00000380152.3:c.9875C>T |
ENSP00000369497.3:p.Pro3292Leu |
4/5119 | 0.00039 | 3 | Uncertain Significance | |
| View | 13 | 36878677 | 36878677 | A > G | SPG20 |
NM_015087.4:c.1826T>C NM_001142296.1:c.1826T>C NM_001142295.1:c.1826T>C NM_001142294.1:c.1826T>C |
NP_055902.1:p.Ile609Thr NP_001135768.1:p.Ile609Thr NP_001135767.1:p.Ile609Thr NP_001135766.1:p.Ile609Thr |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 13 | 39358736 | 39358736 | C > T | FREM2 |
NM_207361.4:c.5810C>T |
NP_997244.3:p.Ser1937Phe |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 13 | 40251659 | 40251659 | A > C | COG6 |
NR_026745.1:n.648A>C NM_001145079.1:c.483A>C NM_020751.2:c.483A>C |
NP_001138551.1:p.Gln161His NP_065802.1:p.Gln161His |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |
| View | 13 | 48575357 | 48575357 | G > C | SUCLA2 |
NM_003850.2:c.49C>G |
NP_003841.1:p.Arg17Gly |
3/6913 | 0.00022 | 3 | non_synonymous | Uncertain Significance |
| View | 13 | 52508989 | 52508989 | G > A | ATP7B |
NM_001243182.1:c.3968C>T NM_001005918.2:c.3680C>T NM_000053.3:c.4301C>T |
NP_001230111.1:p.Thr1323Met NP_001005918.1:p.Thr1227Met NP_000044.2:p.Thr1434Met |
17/7003 | 0.00121 | 3 | Uncertain Significance | |
| View | 13 | 52520508 | 52520508 | G > A | ATP7B |
NM_001243182.1:c.2639C>T NM_001005918.2:c.2351C>T NM_000053.3:c.2972C>T |
NP_001230111.1:p.Thr880Met NP_001005918.1:p.Thr784Met NP_000044.2:p.Thr991Met |
45/7192 | 0.00313 | 3 | Uncertain Significance |