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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 13 | 115091444 | 115091444 | T > G | CHAMP1 CHAMP1 CHAMP1 |
NM_032436.2:c.2127T>G NM_001164145.1:c.2127T>G NM_001164144.1:c.2127T>G |
NP_115812.1:p.Tyr709Ter NP_001157617.1:p.Tyr709Ter NP_001157616.1:p.Tyr709Ter |
1/8685 | 6.0e-05 | 1 | premature_stop | Pathogenic |
| View | 14 | 24550680 | 24550680 | A > G | NRL |
NM_006177.3:c.479T>C |
NP_006168.1:p.Leu160Pro |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 14 | 24729019 | 24729019 | T > C | TGM1 |
NM_000359.2:c.877-2A>G |
14/10521 | 0.00067 | 1 | Pathogenic | ||
| View | 14 | 24729150 | 24729150 | C > T | TGM1 |
NM_000359.2:c.872G>A |
NP_000350.1:p.Gly291Asp |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 14 | 50628269 | 50628269 | G > C | SOS2 |
NM_006939.2:c.1127C>G |
NP_008870.2:p.Thr376Ser |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 14 | 50768850 | 50768850 | T > C | L2HGDH |
NM_024884.2:c.293A>G |
NP_079160.1:p.His98Arg |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 14 | 58899157 | 58899157 | G > - | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.392del NM_001244189.1:c.428del NM_001244190.1:c.347del NM_001244191.1:c.137del NM_001244192.1:c.137del |
NP_055564.3:p.Arg131LysfsTer4 NP_001231118.1:p.Arg143LysfsTer4 NP_001231119.1:p.Arg116LysfsTer4 NP_001231120.1:p.Arg46LysfsTer4 NP_001231121.1:p.Arg46LysfsTer4 |
71/8646 | 0.00416 | 1 | Pathogenic | |
| View | 14 | 58923419 | 58923419 | G > C | KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 |
NM_014749.3:c.1254-1G>C NM_001244189.1:c.1413-1G>C NM_001244190.1:c.1209-1G>C NM_001244191.1:c.999-1G>C NM_001244192.1:c.1122-1G>C NM_001244193.1:c.834-1G>C |
6/8646 | 0.00035 | 1 | Pathogenic | ||
| View | 14 | 61446301 | 61446304 | TATT > - | TRMT5 |
NM_020810.2:c.312_315del |
NP_065861.2:p.Ile105SerfsTer4 |
18/8646 | 0.00104 | 1 | Pathogenic | |
| View | 14 | 76429687 | 76429687 | G > A | TGFB3 |
NM_003239.2:c.898C>T |
NP_003230.1:p.Arg300Trp |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 14 | 88431926 | 88431926 | T > C | GALC GALC |
ENST00000261304.2:c.956A>G ENST00000393569.2:c.878A>G |
ENSP00000261304.2:p.Tyr319Cys ENSP00000377199.2:p.Tyr293Cys |
6/10521 | 0.00029 | 1 | Pathogenic | |
| View | 14 | 88442826 | 88442826 | T > A | GALC GALC |
ENST00000261304.2:c.628A>T ENST00000393569.2:c.550A>T |
ENSP00000261304.2:p.Arg210Ter ENSP00000377199.2:p.Arg184Ter |
1/10521 | 5.0e-05 | 1 | Pathogenic | |
| View | 14 | 88452926 | 88452926 | T > C | GALC GALC |
ENST00000261304.2:c.349A>G ENST00000393569.2:c.271A>G |
ENSP00000261304.2:p.Met117Val ENSP00000377199.2:p.Met91Val |
1/10521 | 5.0e-05 | 1 | Pathogenic | |
| View | 14 | 88459314 | 88459314 | C > G | GALC GALC |
ENST00000261304.2:c.195G>C ENST00000393569.2:c.117+413G>C |
ENSP00000261304.2:p.Gly65= |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 14 | 88883104 | 88883104 | T > A | SPATA7 SPATA7 |
NM_001040428.3:c.192T>A NM_018418.4:c.288T>A |
NP_001035518.1:p.Cys64Ter NP_060888.2:p.Cys96Ter |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 14 | 102469031 | 102469031 | G > A | DYNC1H1 |
NM_001376.4:c.4700G>A |
NP_001367.2:p.Arg1567Gln |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 15 | 25615817 | 25615817 | G > A | UBE3A UBE3A UBE3A |
NM_130839.2:c.1504C>T NM_130838.1:c.1444C>T NM_000462.3:c.1513C>T |
NP_570854.1:p.Arg502Ter NP_570853.1:p.Arg482Ter NP_000453.2:p.Arg505Ter |
1/9384 | 5.0e-05 | 1 | Pathogenic | |
| View | 15 | 28228529 | 28228529 | T > C | OCA2 |
NM_000275.2:c.1465A>G |
NP_000266.2:p.Asn489Asp |
11/8685 | 0.00063 | 1 | Pathogenic | |
| View | 15 | 40707653 | 40707653 | C > T | IVD IVD |
NM_002225.3:c.941C>T NM_001159508.1:c.851C>T |
NP_002216.2:p.Ala314Val NP_001152980.1:p.Ala284Val |
19/10521 | 0.0009 | 1 | Pathogenic | |
| View | 15 | 43695895 | 43695895 | G > T | TUBGCP4 |
NM_014444.2:c.1746G>T |
NP_055259.2:p.Leu582= |
11/8685 | 0.00063 | 1 | Pathogenic | |
| View | 15 | 45393426 | 45393429 | GAAC > - | DUOX2 |
NM_014080.4:c.2895_2898del |
NP_054799.4:p.Phe966SerfsTer29 |
43/8685 | 0.00248 | 1 | Pathogenic | |
| View | 15 | 48703280 | 48703283 | TTCT > - | FBN1 |
ENST00000316623.5:c.8520_8523del |
ENSP00000325527.5:p.Lys2840AsnfsTer5 |
2/8685 | 0.00012 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 15 | 48779298 | 48779298 | G > T | FBN1 |
ENST00000316623.5:c.3563C>A |
ENSP00000325527.5:p.Ser1188Ter |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 15 | 48782159 | 48782166 | CAGTACCC > - | FBN1 |
ENST00000316623.5:c.2964_2971del |
ENSP00000325527.5:p.Trp988Ter |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 15 | 48800830 | 48800830 | A > C | FBN1 |
ENST00000316623.5:c.1786T>G |
ENSP00000325527.5:p.Cys596Gly |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 15 | 57554311 | 57554312 | - > CT | TCF12 TCF12 TCF12 TCF12 TCF12 |
NM_207040.1:c.908_909dupCT NM_003205.3:c.1418_1419dupCT NM_207038.1:c.1418_1419dupCT NM_207037.1:c.1490_1491dupCT NM_207036.1:c.1490_1491dupCT |
NP_996923.1:p.Val304LeufsTer22 NP_003196.1:p.Val474LeufsTer22 NP_996921.1:p.Val474LeufsTer22 NP_996920.1:p.Val498LeufsTer22 NP_996919.1:p.Val498LeufsTer22 |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 15 | 60789728 | 60789728 | G > A | RORA RORA RORA RORA |
ENST00000449337.2:c.1333C>T ENST00000309157.4:c.1573C>T ENST00000335670.6:c.1498C>T ENST00000261523.5:c.1597C>T |
ENSP00000402971.2:p.Arg445Ter ENSP00000309753.3:p.Arg525Ter ENSP00000335087.6:p.Arg500Ter ENSP00000261523.5:p.Arg533Ter |
1/8685 | 6.0e-05 | 2 | premature_stop | Pathogenic |
| View | 15 | 65313871 | 65313871 | G > A | MTFMT |
NM_139242.3:c.626C>T |
NP_640335.2:p.Ser209Leu |
15/8685 | 0.00086 | 1 | Pathogenic | |
| View | 15 | 72638920 | 72638921 | - > GATA | HEXA |
NM_000520.4:c.1274_1277dupTATC |
NP_000511.2:p.Tyr427IlefsTer5 |
6/10521 | 0.00033 | 1 | Pathogenic | |
| View | 15 | 75692449 | 75692450 | - > AG | SIN3A SIN3A SIN3A |
NM_001145358.1:c.1784_1785dupCT NM_001145357.1:c.1784_1785dupCT NM_015477.2:c.1784_1785dupCT |
NP_001138830.1:p.Thr596LeufsTer4 NP_001138829.1:p.Thr596LeufsTer4 NP_056292.1:p.Thr596LeufsTer4 |
1/8646 | 6.0e-05 | 1 | frameshift | Pathogenic |
| View | 15 | 85186950 | 85186950 | A > - | WDR73 |
NM_032856.2:c.888del |
NP_116245.2:p.Phe296LeufsTer26 |
3/8685 | 0.00023 | 1 | Pathogenic | |
| 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 |
4/10521 | 0.00019 | 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 |
4/10521 | 0.00019 | 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 |
3/10521 | 0.00014 | 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 |
5/10521 | 0.00024 | 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 |
2/10521 | 0.0001 | 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 |
27/10521 | 0.00128 | 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 |
45/10521 | 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 |
18/10521 | 0.00086 | 1 | Pathogenic | |
| View | 16 | 1550445 | 1550445 | G > T | TELO2 |
NM_016111.3:c.1100G>T |
NP_057195.2:p.Cys367Phe |
10/8685 | 0.00058 | 1 | Pathogenic | |
| View | 16 | 1570005 | 1570006 | - > C | IFT140 |
NM_014714.3:c.3916dupG |
NP_055529.2:p.Ala1306GlyfsTer56 |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 16 | 1823027 | 1823027 | G > A | MRPS34 |
NM_023936.1:c.94C>T |
NP_076425.1:p.Gln32Ter |
28/8646 | 0.00168 | 1 | Pathogenic | |
| View | 16 | 2034416 | 2034416 | C > - | GFER |
NM_005262.2:c.199del |
NP_005253.3:p.Arg67GlyfsTer83 |
2/8685 | 0.00012 | 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 |
1/8685 | 6.0e-05 | 1 | Pathogenic | ||
| View | 16 | 2367764 | 2367764 | T > A | ABCA3 |
ENST00000301732.5:c.875A>T |
ENSP00000301732.5:p.Glu292Val |
93/10521 | 0.00442 | 1 | Pathogenic | |
| View | 16 | 3293310 | 3293310 | A > G | MEFV MEFV |
ENST00000219596.1:c.2177T>C ENST00000541159.1:c.*381T>C |
ENSP00000219596.1:p.Val726Ala |
21/10521 | 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 |
3/10521 | 0.00014 | 1 | Pathogenic | |
| View | 16 | 3293407 | 3293407 | T > C | MEFV MEFV |
ENST00000219596.1:c.2080A>G ENST00000541159.1:c.*284A>G |
ENSP00000219596.1:p.Met694Val |
9/10521 | 0.00043 | 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 |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 16 | 5128790 | 5128790 | C > T | ALG1 |
NM_019109.4:c.773C>T |
NP_061982.3:p.Ser258Leu |
20/10521 | 0.00095 | 1 | Pathogenic |