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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 11 | 67763325 | 67763325 | G > C | UNC93B1 |
ENST00000227471.2:c.1117C>G |
ENSP00000227471.2:p.Arg373Gly |
13/11422 | 0.00057 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 67800683 | 67800683 | G > A | NDUFS8 |
NM_002496.3:c.305G>A |
NP_002487.1:p.Arg102His |
4/11422 | 0.00018 | 3 | Uncertain Significance | |
| View | 11 | 67803807 | 67803807 | G > A | NDUFS8 |
NM_002496.3:c.460G>A |
NP_002487.1:p.Gly154Ser |
2/11422 | 9.0e-05 | 3 | Uncertain Significance | |
| View | 11 | 67814983 | 67814983 | G > A | TCIRG1 TCIRG1 |
ENST00000265686.3:c.1249G>A ENST00000532635.1:c.601G>A |
ENSP00000265686.3:p.Ala417Thr ENSP00000434407.1:p.Ala201Thr |
99/11422 | 0.00433 | 3 | Uncertain Significance | |
| View | 11 | 68566781 | 68566781 | T > C | CPT1A CPT1A |
ENST00000265641.5:c.598A>G ENST00000376618.2:c.598A>G |
ENSP00000265641.4:p.Lys200Glu ENSP00000365803.2:p.Lys200Glu |
1/11422 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68566822 | 68566822 | T > C | CPT1A CPT1A |
ENST00000265641.5:c.557A>G ENST00000376618.2:c.557A>G |
ENSP00000265641.4:p.Tyr186Cys ENSP00000365803.2:p.Tyr186Cys |
3/11422 | 0.00013 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68675796 | 68675796 | G > A | IGHMBP2 |
NM_002180.2:c.440G>A |
NP_002171.2:p.Arg147Gln |
4/11422 | 0.00018 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68678898 | 68678898 | T > G | IGHMBP2 |
NM_002180.2:c.548-10T>G |
25/11422 | 0.00109 | 3 | polypyrimidine_tract | Uncertain Significance | |
| View | 11 | 68703821 | 68703821 | A > G | IGHMBP2 |
NM_002180.2:c.1873A>G |
NP_002171.2:p.Thr625Ala |
2/11422 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 68704308 | 68704308 | C > T | IGHMBP2 |
NM_002180.2:c.2360C>T |
NP_002171.2:p.Pro787Leu |
15/11422 | 0.00066 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 71146501 | 71146501 | G > A | DHCR7 DHCR7 |
NM_001163817.1:c.1348C>T NM_001360.2:c.1348C>T |
NP_001157289.1:p.Arg450Cys NP_001351.2:p.Arg450Cys |
3/11422 | 0.00013 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 71150037 | 71150037 | T > C | DHCR7 DHCR7 |
NM_001163817.1:c.719A>G NM_001360.2:c.719A>G |
NP_001157289.1:p.Asn240Ser NP_001351.2:p.Asn240Ser |
6/11422 | 0.00031 | 3 | Uncertain Significance | |
| View | 11 | 71906793 | 71906793 | T > C | FOLR1 FOLR1 FOLR1 FOLR1 |
NM_016724.2:c.493+2T>C NM_016725.2:c.493+2T>C NM_016729.2:c.493+2T>C NM_000802.3:c.493+2T>C |
57/11422 | 0.00254 | 1 | Uncertain Significance | ||
| View | 11 | 73849756 | 73849756 | C > G | C2CD3 |
NM_015531.4:c.955+9G>C |
3/9594 | 0.00016 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 11 | 76868046 | 76868046 | G > A | MYO7A MYO7A MYO7A |
NM_000260.3:c.731G>A NM_001127179.2:c.731G>A NM_001127180.1:c.731G>A |
NP_000251.3:p.Arg244His NP_001120651.2:p.Arg244His NP_001120652.1:p.Arg244His |
5/11422 | 0.00022 | 1 | Uncertain Significance | |
| View | 11 | 76901123 | 76901123 | G > A | MYO7A MYO7A |
NM_000260.3:c.3689G>A NM_001127180.1:c.3689G>A |
NP_000251.3:p.Arg1230His NP_001120652.1:p.Arg1230His |
7/11422 | 0.00031 | 3 | Uncertain Significance | |
| View | 11 | 76903237 | 76903237 | A > T | MYO7A MYO7A |
NM_000260.3:c.4066A>T NM_001127180.1:c.4066A>T |
NP_000251.3:p.Ser1356Cys NP_001120652.1:p.Ser1356Cys |
3/11422 | 0.00013 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 76922381 | 76922381 | G > A | MYO7A MYO7A |
NM_000260.3:c.6236G>A NM_001127180.1:c.6122G>A |
NP_000251.3:p.Arg2079Gln NP_001120652.1:p.Arg2041Gln |
9/11422 | 0.00039 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 78180283 | 78180283 | A > G | NARS2 NARS2 |
NM_024678.5:c.1026+10T>C NM_001243251.1:c.345+10T>C |
5/9594 | 0.00026 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 11 | 78277185 | 78277185 | A > T | NARS2 NARS2 |
NM_024678.5:c.506T>A NM_001243251.1:c.-176T>A |
NP_078954.4:p.Phe169Tyr |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 78285487 | 78285487 | G > A | NARS2 NARS2 |
NM_024678.5:c.47C>T NM_001243251.1:c.-541+387C>T |
NP_078954.4:p.Ser16Phe |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 85366671 | 85366671 | G > A | TMEM126A TMEM126A |
NM_001244735.1:c.104G>A NM_032273.3:c.314G>A |
NP_001231664.1:p.Arg35Gln NP_115649.1:p.Arg105Gln |
75/9594 | 0.00391 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 89017961 | 89017961 | G > A | TYR |
NM_000372.4:c.1205G>A |
NP_000363.1:p.Arg402Gln |
3743/9598 | 0.22479 | 1 | Uncertain Significance | |
| View | 11 | 103153798 | 103153798 | C > T | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.10895C>T NM_001377.2:c.10874C>T |
NP_001073932.1:p.Ala3632Val NP_001368.2:p.Ala3625Val |
2/11422 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 105623840 | 105623840 | G > C | GRIA4 GRIA4 GRIA4 GRIA4 GRIA4 |
ENST00000393127.2:c.381G>C NR_046356.1:n.695G>C ENST00000282499.5:c.381G>C NM_001112812.1:c.381G>C NM_001077244.1:c.381G>C |
ENSP00000376835.2:p.Glu127Asp ENSP00000282499.5:p.Glu127Asp NP_001106283.1:p.Glu127Asp NP_001070712.1:p.Glu127Asp |
2/9555 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 105795309 | 105795309 | C > T | GRIA4 GRIA4 GRIA4 |
ENST00000393127.2:c.1661C>T NR_046356.1:n.1975C>T ENST00000282499.5:c.1661C>T |
ENSP00000376835.2:p.Ala554Val ENSP00000282499.5:p.Ala554Val |
1/9555 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 108018032 | 108018039 | ATGCCTTG > - | ACAT1 |
NM_000019.3:c.1200_1207del |
NP_000010.1:p.His400GlnfsTer57 |
4/11422 | 0.00018 | 2 | frameshift | Uncertain Significance |
| View | 11 | 108165789 | 108165789 | G > A | ATM |
ENST00000278616.4:c.4909+3G>A |
2/11422 | 9.0e-05 | 3 | Uncertain Significance | ||
| View | 11 | 108180945 | 108180945 | G > C | ATM |
ENST00000278616.4:c.5821G>C |
ENSP00000278616.4:p.Val1941Leu |
10/11422 | 0.00044 | 3 | Uncertain Significance | |
| View | 11 | 108186750 | 108186750 | T > C | ATM |
ENST00000278616.4:c.6108T>C |
ENSP00000278616.4:p.Tyr2036= |
3/11422 | 0.00013 | 3 | Uncertain Significance | |
| View | 11 | 108206648 | 108206648 | C > T | ATM |
ENST00000278616.4:c.8228C>T |
ENSP00000278616.4:p.Thr2743Met |
7/11422 | 0.00031 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 111657193 | 111657193 | A > G | ALG9 ALG9 ALG9 ALG9 |
ENST00000531154.1:c.1272T>C NM_001077691.1:c.1272T>C NM_001077692.1:c.1251T>C ENST00000398006.2:c.1251T>C |
ENSP00000435517.1:p.Tyr424= NP_001071159.1:p.Tyr424= NP_001071160.1:p.Tyr417= ENSP00000381090.2:p.Tyr417= |
1/11422 | 4.0e-05 | 4 | synonymous | Uncertain Significance |
| View | 11 | 111708280 | 111708280 | G > A | ALG9 ALG9 ALG9 ALG9 |
ENST00000531154.1:c.870C>T NM_001077691.1:c.870C>T NM_001077692.1:c.849C>T ENST00000398006.2:c.849C>T |
ENSP00000435517.1:p.Thr290= NP_001071159.1:p.Thr290= NP_001071160.1:p.Thr283= ENSP00000381090.2:p.Thr283= |
201/11422 | 0.0088 | 4 | synonymous | Uncertain Significance |
| View | 11 | 111742157 | 111742157 | C > G | 2/11422 | 9.0e-05 | 4 | Uncertain Significance | ||||
| View | 11 | 117282575 | 117282575 | C > T | CEP164 CEP164 |
NM_014956.4:c.4228C>T NM_001271933.1:c.4213C>T |
NP_055771.4:p.Gln1410Ter NP_001258862.1:p.Gln1405Ter |
29/9594 | 0.00151 | 3 | Uncertain Significance | |
| View | 11 | 118221410 | 118221410 | C > T | CD3G |
NM_000073.2:c.439+12C>T |
6/11383 | 0.00026 | 3 | five_prime_intronic | Uncertain Significance | |
| View | 11 | 118344855 | 118344857 | CTT > - | KMT2A KMT2A |
NM_001197104.1:c.2982_2984del NM_005933.3:c.2982_2984del |
NP_001184033.1:p.Ser997del NP_005924.2:p.Ser997del |
2/9594 | 0.0001 | 3 | in_frame_indel | Uncertain Significance |
| View | 11 | 118373128 | 118373128 | C > T | KMT2A KMT2A |
NM_001197104.1:c.6521C>T NM_005933.3:c.6512C>T |
NP_001184033.1:p.Thr2174Ile NP_005924.2:p.Thr2171Ile |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 118390503 | 118390503 | C > T | KMT2A KMT2A |
NM_001197104.1:c.11317C>T NM_005933.3:c.11308C>T |
NP_001184033.1:p.Leu3773Phe NP_005924.2:p.Leu3770Phe |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 118461060 | 118461060 | C > T | ARCN1 ARCN1 |
NM_001142281.1:c.559C>T NM_001655.4:c.823C>T |
NP_001135753.1:p.His187Tyr NP_001646.2:p.His275Tyr |
1/9555 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 118972241 | 118972241 | C > T | DPAGT1 |
NM_001382.3:c.125G>A |
NP_001373.2:p.Cys42Tyr |
15/11422 | 0.00066 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 119077252 | 119077252 | A > T | CBL |
NM_005188.3:c.125A>T |
NP_005179.2:p.His42Leu |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 119216836 | 119216836 | C > T | MFRP C1QTNF5 |
NM_031433.3:c.191G>A NM_015645.4:c.-2446G>A |
NP_113621.1:p.Arg64His |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 121016463 | 121016463 | C > T | TECTA |
NM_005422.2:c.3743C>T |
NP_005413.2:p.Pro1248Leu |
14/9594 | 0.00073 | 3 | Uncertain Significance | |
| View | 11 | 121039395 | 121039395 | C > A | TECTA |
NM_005422.2:c.5760C>A |
NP_005413.2:p.Asn1920Lys |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 126145267 | 126145267 | G > A | FOXRED1 FOXRED1 FOXRED1 |
NM_017547.3:c.677G>A NR_037648.1:n.863G>A NR_037647.1:n.623G>A |
NP_060017.1:p.Gly226Glu |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 126145709 | 126145709 | C > T | FOXRED1 FOXRED1 FOXRED1 |
NM_017547.3:c.754C>T NR_037648.1:n.940C>T NR_037647.1:n.700C>T |
NP_060017.1:p.Arg252Cys |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 126215285 | 126215285 | G > A | DCPS GSEC |
ENST00000263579.4:c.791G>A NR_033839.1:n.147-3068C>T |
ENSP00000263579.4:p.Arg264Gln |
16/9595 | 0.00089 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 126294582 | 126294582 | C > G | KIRREL3 |
NM_032531.3:c.2230G>C |
NP_115920.1:p.Asp744His |
4/9594 | 0.00021 | 3 | non_synonymous | Uncertain Significance |
| View | 11 | 128709105 | 128709105 | T > C | KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 |
NM_000220.4:c.1091A>G NM_153767.3:c.1034A>G NM_153766.2:c.1034A>G NM_153764.2:c.1034A>G NM_153765.2:c.1085A>G |
NP_000211.1:p.Asp364Gly NP_722451.1:p.Asp345Gly NP_722450.1:p.Asp345Gly NP_722448.1:p.Asp345Gly NP_722449.3:p.Asp362Gly |
4/11422 | 0.00018 | 3 | non_synonymous | Uncertain Significance |