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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 15 | 89862296 | 89862296 | G > A | POLG POLG |
NM_001126131.1:c.3139C>T NM_002693.2:c.3139C>T |
NP_001119603.1:p.Arg1047Trp NP_002684.1:p.Arg1047Trp |
5/11422 | 0.00022 | 1 | Pathogenic | |
| View | 15 | 89864238 | 89864238 | T > G | POLG POLG |
NM_001126131.1:c.2740A>C NM_002693.2:c.2740A>C |
NP_001119603.1:p.Thr914Pro NP_002684.1:p.Thr914Pro |
4/11422 | 0.00018 | 1 | Pathogenic | |
| View | 15 | 89865011 | 89865011 | G > A | POLG POLG |
NM_001126131.1:c.2554C>T NM_002693.2:c.2554C>T |
NP_001119603.1:p.Arg852Cys NP_002684.1:p.Arg852Cys |
3/11422 | 0.00013 | 1 | Pathogenic | |
| View | 15 | 89865023 | 89865023 | C > T | POLG POLG |
NM_001126131.1:c.2542G>A NM_002693.2:c.2542G>A |
NP_001119603.1:p.Gly848Ser NP_002684.1:p.Gly848Ser |
5/11422 | 0.00022 | 1 | Pathogenic | |
| View | 15 | 89865980 | 89865980 | G > A | POLG POLG |
NM_001126131.1:c.2419C>T NM_002693.2:c.2419C>T |
NP_001119603.1:p.Arg807Cys NP_002684.1:p.Arg807Cys |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 15 | 89866691 | 89866691 | C > G | POLG POLG |
NM_001126131.1:c.2209G>C NM_002693.2:c.2209G>C |
NP_001119603.1:p.Gly737Arg NP_002684.1:p.Gly737Arg |
28/11422 | 0.00123 | 1 | Pathogenic | |
| View | 15 | 89868870 | 89868870 | G > A | POLG POLG |
NM_001126131.1:c.1760C>T NM_002693.2:c.1760C>T |
NP_001119603.1:p.Pro587Leu NP_002684.1:p.Pro587Leu |
49/11422 | 0.00214 | 1 | Pathogenic | |
| View | 15 | 89870432 | 89870432 | C > T | POLG POLG |
NM_001126131.1:c.1399G>A NM_002693.2:c.1399G>A |
NP_001119603.1:p.Ala467Thr NP_002684.1:p.Ala467Thr |
18/11422 | 0.00079 | 1 | Pathogenic | |
| View | 16 | 1550445 | 1550445 | G > T | TELO2 |
NM_016111.3:c.1100G>T |
NP_057195.2:p.Cys367Phe |
10/9594 | 0.00052 | 1 | Pathogenic | |
| View | 16 | 1570005 | 1570006 | - > C | IFT140 |
NM_014714.3:c.3916dupG |
NP_055529.2:p.Ala1306GlyfsTer56 |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 16 | 1823027 | 1823027 | G > A | MRPS34 |
NM_023936.1:c.94C>T |
NP_076425.1:p.Gln32Ter |
32/9555 | 0.00173 | 1 | Pathogenic | |
| View | 16 | 2034416 | 2034416 | C > - | GFER |
NM_005262.2:c.199del |
NP_005253.3:p.Arg67GlyfsTer83 |
2/9594 | 0.0001 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 16 | 2134717 | 2134717 | G > A | TSC2 TSC2 TSC2 |
NM_000548.3:c.4493+1G>A NM_001114382.1:c.4424+1G>A NM_001077183.1:c.4292+1G>A |
1/9594 | 5.0e-05 | 1 | Pathogenic | ||
| View | 16 | 2367764 | 2367764 | T > A | ABCA3 |
ENST00000301732.5:c.875A>T |
ENSP00000301732.5:p.Glu292Val |
104/11422 | 0.00455 | 1 | Pathogenic | |
| View | 16 | 3076141 | 3076141 | T > A | THOC6 THOC6 |
NM_024339.3:c.298T>A NM_001142350.1:c.298T>A |
NP_077315.2:p.Trp100Arg NP_001135822.1:p.Trp100Arg |
21/9594 | 0.00109 | 1 | Pathogenic | |
| View | 16 | 3077380 | 3077380 | G > A | THOC6 THOC6 |
NM_024339.3:c.824G>A NM_001142350.1:c.810+99G>A |
NP_077315.2:p.Gly275Asp |
21/9594 | 0.00109 | 1 | Pathogenic | |
| View | 16 | 3293310 | 3293310 | A > G | MEFV MEFV |
ENST00000219596.1:c.2177T>C ENST00000541159.1:c.*381T>C |
ENSP00000219596.1:p.Val726Ala |
23/11422 | 0.00109 | 1 | Pathogenic | |
| View | 16 | 3293405 | 3293405 | C > T | MEFV MEFV |
ENST00000219596.1:c.2082G>A ENST00000541159.1:c.*286G>A |
ENSP00000219596.1:p.Met694Ile |
3/11422 | 0.00013 | 1 | Pathogenic | |
| View | 16 | 3293407 | 3293407 | T > C | MEFV MEFV |
ENST00000219596.1:c.2080A>G ENST00000541159.1:c.*284A>G |
ENSP00000219596.1:p.Met694Val |
9/11422 | 0.00039 | 1 | Pathogenic | |
| View | 16 | 3808883 | 3808883 | G > - | CREBBP CREBBP |
NM_001079846.1:c.3227del NM_004380.2:c.3341del |
NP_001073315.1:p.Pro1076LeufsTer2 NP_004371.2:p.Pro1114LeufsTer2 |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 16 | 5128790 | 5128790 | C > T | ALG1 |
NM_019109.4:c.773C>T |
NP_061982.3:p.Ser258Leu |
22/11422 | 0.00096 | 1 | Pathogenic | |
| View | 16 | 5128858 | 5128858 | G > T | ALG1 |
NM_019109.4:c.841G>T |
NP_061982.3:p.Val281Phe |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 16 | 8904955 | 8904955 | C > T | PMM2 |
NM_000303.2:c.367C>T |
NP_000294.1:p.Arg123Ter |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 16 | 8905010 | 8905010 | G > A | PMM2 |
NM_000303.2:c.422G>A |
NP_000294.1:p.Arg141His |
88/11422 | 0.00385 | 1 | Pathogenic | |
| View | 16 | 8905030 | 8905030 | G > A | PMM2 |
NM_000303.2:c.442G>A |
NP_000294.1:p.Asp148Asn |
5/11422 | 0.00022 | 1 | Pathogenic | |
| View | 16 | 8941651 | 8941651 | C > T | PMM2 |
NM_000303.2:c.710C>T |
NP_000294.1:p.Thr237Met |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 16 | 8941663 | 8941663 | G > C | PMM2 |
NM_000303.2:c.722G>C |
NP_000294.1:p.Cys241Ser |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 16 | 29825015 | 29825016 | - > C | PRRT2 PRRT2 |
ENST00000358758.7:c.649dupC ENST00000567659.1:c.649dupC |
ENSP00000351608.7:p.Arg217ProfsTer8 ENSP00000456226.1:p.Arg217ProfsTer8 |
21/9594 | 0.00109 | 1 | Pathogenic | |
| View | 16 | 29825016 | 29825017 | - > C | PRRT2 PRRT2 |
ENST00000358758.7:c.649dupC ENST00000567659.1:c.649dupC |
ENSP00000351608.7:p.Arg217ProfsTer8 ENSP00000456226.1:p.Arg217ProfsTer8 |
6/9594 | 0.00031 | 1 | Pathogenic | |
| View | 16 | 29825255 | 29825255 | G > T | PRRT2 PRRT2 |
ENST00000358758.7:c.879+1G>T ENST00000567659.1:c.879+1G>T |
2/9594 | 0.0001 | 1 | Pathogenic | ||
| View | 16 | 30764753 | 30764753 | T > C | PHKG2 PHKG2 |
NM_000294.2:c.431T>C NM_001172432.1:c.431T>C |
NP_000285.1:p.Leu144Pro NP_001165903.1:p.Leu144Pro |
3/9594 | 0.00021 | 1 | Pathogenic | |
| View | 16 | 30976205 | 30976208 | CCTA > - | SETD1A |
NM_014712.1:c.1144_1147del |
NP_055527.1:p.Tyr382HisfsTer114 |
1/9555 | 5.0e-05 | 1 | frameshift | Pathogenic |
| View | 16 | 56370674 | 56370674 | C > T | GNAO1 GNAO1 |
NM_138736.2:c.625C>T NM_020988.2:c.625C>T |
NP_620073.2:p.Arg209Cys NP_066268.1:p.Arg209Cys |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 16 | 75576496 | 75576496 | T > C | TMEM231 TMEM231 TMEM231 |
NM_001077418.2:c.664+4A>G NM_001077416.2:c.823+4A>G NR_074083.1:n.864+4A>G |
6/9594 | 0.00031 | 1 | Pathogenic | ||
| View | 16 | 75576539 | 75576539 | C > T | TMEM231 TMEM231 TMEM231 |
NM_001077418.2:c.625G>A NM_001077416.2:c.784G>A NR_074083.1:n.825G>A |
NP_001070886.1:p.Asp209Asn NP_001070884.2:p.Asp262Asn |
3/9939 | 0.00015 | 1 | Pathogenic | |
| View | 16 | 78142372 | 78142372 | C > T | WWOX WWOX |
NM_130791.2:c.160C>T NM_016373.2:c.160C>T |
NP_570607.1:p.Arg54Ter NP_057457.1:p.Arg54Ter |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 16 | 83940623 | 83940623 | C > G | MLYCD |
NM_012213.2:c.560C>G |
NP_036345.2:p.Ser187Ter |
5/9594 | 0.00026 | 1 | Pathogenic | |
| View | 16 | 88786583 | 88786583 | C > T | PIEZO1 |
NM_001142864.2:c.6058G>A |
NP_001136336.2:p.Ala2020Thr |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 16 | 89220556 | 89220556 | C > T | ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 ACSF3 |
NR_023316.2:n.1190C>T NM_174917.3:c.1672C>T NM_001127214.2:c.1672C>T NR_045666.1:n.2102C>T NR_045667.1:n.798C>T NM_001243279.1:c.1672C>T |
NP_777577.2:p.Arg558Trp NP_001120686.1:p.Arg558Trp NP_001230208.1:p.Arg558Trp |
82/9594 | 0.00427 | 1 | Pathogenic | |
| View | 16 | 89346019 | 89346019 | G > A | ANKRD11 ANKRD11 ANKRD11 |
NM_013275.5:c.6931C>T NM_001256182.1:c.6931C>T NM_001256183.1:c.6931C>T |
NP_037407.4:p.Gln2311Ter NP_001243111.1:p.Gln2311Ter NP_001243112.1:p.Gln2311Ter |
1/9594 | 5.0e-05 | 1 | premature_stop | Pathogenic |
| View | 16 | 89613145 | 89613145 | C > T | SPG7 |
NM_003119.2:c.1529C>T |
NP_003110.1:p.Ala510Val |
101/10128 | 0.00504 | 1 | Pathogenic | |
| View | 17 | 3402354 | 3402354 | C > A | ASPA ASPA |
NM_000049.2:c.914C>A NM_001128085.1:c.914C>A |
NP_000040.1:p.Ala305Glu NP_001121557.1:p.Ala305Glu |
9/11422 | 0.00039 | 1 | Pathogenic | |
| View | 17 | 4802680 | 4802680 | C > G | CHRNE |
NM_000080.3:c.1033-1G>C |
2/9594 | 0.0001 | 1 | Pathogenic | ||
| View | 17 | 7124264 | 7124264 | A > G | ACADVL ACADVL ACADVL ACADVL |
NM_001033859.2:c.298A>G NM_001270447.1:c.433A>G NM_001270448.1:c.136A>G NM_000018.3:c.364A>G |
NP_001029031.1:p.Asn100Asp NP_001257376.1:p.Asn145Asp NP_001257377.1:p.Asn46Asp NP_000009.1:p.Asn122Asp |
5/11422 | 0.00026 | 1 | Pathogenic | |
| View | 17 | 7125591 | 7125591 | T > C | ACADVL ACADVL ACADVL ACADVL |
NM_001033859.2:c.782T>C NM_001270447.1:c.917T>C NM_001270448.1:c.620T>C NM_000018.3:c.848T>C |
NP_001029031.1:p.Val261Ala NP_001257376.1:p.Val306Ala NP_001257377.1:p.Val207Ala NP_000009.1:p.Val283Ala |
40/11422 | 0.00179 | 1 | Pathogenic | |
| View | 17 | 7126470 | 7126470 | C > T | ACADVL ACADVL ACADVL ACADVL |
NM_001033859.2:c.1030C>T NM_001270447.1:c.1165C>T NM_001270448.1:c.868C>T NM_000018.3:c.1096C>T |
NP_001029031.1:p.Arg344Cys NP_001257376.1:p.Arg389Cys NP_001257377.1:p.Arg290Cys NP_000009.1:p.Arg366Cys |
3/11422 | 0.00013 | 1 | Pathogenic | |
| View | 17 | 7127184 | 7127184 | G > A | ACADVL ACADVL ACADVL ACADVL |
NM_001033859.2:c.1256G>A NM_001270447.1:c.1391G>A NM_001270448.1:c.1094G>A NM_000018.3:c.1322G>A |
NP_001029031.1:p.Gly419Asp NP_001257376.1:p.Gly464Asp NP_001257377.1:p.Gly365Asp NP_000009.1:p.Gly441Asp |
1/11422 | 4.0e-05 | 1 | Pathogenic | |
| View | 17 | 7487182 | 7487182 | T > C | MPDU1 MPDU1 |
NR_024603.1:n.218T>C NM_004870.3:c.2T>C |
NP_004861.2:p.Met1? |
3/11422 | 0.00013 | 1 | Pathogenic | |
| View | 17 | 10310241 | 10310241 | C > T | MYH8 |
NM_002472.2:c.2021G>A |
NP_002463.2:p.Arg674Gln |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 17 | 16220000 | 16220000 | T > C | PIGL |
NM_004278.3:c.500T>C |
NP_004269.1:p.Leu167Pro |
22/9594 | 0.00115 | 1 | Pathogenic |