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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 | 2181258 | 2181258 | C > T | INS-IGF2 INS |
NR_003512.3:n.246+757G>A NM_001185097.1:c.188-31G>A NM_001185098.1:c.188-31G>A NM_001042376.2:c.187+757G>A NM_000207.2:c.188-31G>A |
1/5101 | 0.0001 | 1 | Pathogenic | ||
| View | 11 | 5247993 | 5247996 | AAAG > - | HBB |
NM_000518.4:c.126_129del |
NP_000509.1:p.Phe42LeufsTer19 |
2/6913 | 0.00022 | 1 | Pathogenic | |
| View | 11 | 5248232 | 5248232 | T > A | HBB |
NM_000518.4:c.20A>T |
NP_000509.1:p.Glu7Val |
50/6913 | 0.00398 | 1 | Pathogenic | |
| View | 11 | 5248233 | 5248233 | C > T | HBB |
NM_000518.4:c.19G>A |
NP_000509.1:p.Glu7Lys |
9/6913 | 0.00065 | 1 | Pathogenic | |
| View | 11 | 6638385 | 6638385 | C > G | TPP1 |
NM_000391.3:c.509-1G>C |
5/6913 | 0.00036 | 1 | Pathogenic | ||
| View | 11 | 17424218 | 17424218 | G > A | ABCC8 |
NM_000352.3:c.3640C>T |
NP_000343.2:p.Arg1214Trp |
3/7003 | 0.00021 | 1 | Pathogenic | |
| View | 11 | 36595629 | 36595629 | A > - | RAG1 |
ENST00000299440.5:c.775del |
ENSP00000299440.5:p.Ser259AlafsTer5 |
1/6913 | 0.00014 | 1 | Pathogenic | |
| View | 11 | 47469631 | 47469631 | G > T | RAPSN |
NM_005055.4:c.264C>A NM_032645.4:c.264C>A |
NP_005046.2:p.Asn88Lys NP_116034.2:p.Asn88Lys |
32/6913 | 0.00231 | 1 | Pathogenic | |
| View | 11 | 64527223 | 64527223 | G > A | PYGM |
NM_001164716.1:c.148C>T NM_005609.2:c.148C>T |
NP_001158188.1:p.Arg50Ter NP_005600.1:p.Arg50Ter |
18/5771 | 0.00156 | 1 | Pathogenic | |
| View | 11 | 65307505 | 65307505 | G > A | LTBP3 |
NM_001130144.2:c.3364C>T NM_021070.4:c.3245-153C>T NM_001164266.1:c.2894-153C>T |
NP_001123616.1:p.Gln1122Ter |
1/5119 | 0.0001 | 2 | premature_stop | Pathogenic |
| View | 11 | 65978677 | 65978677 | C > T | PACS1 |
NM_018026.3:c.607C>T |
NP_060496.2:p.Arg203Trp |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 66293652 | 66293652 | T > G | BBS1 |
NM_024649.4:c.1169T>G |
NP_078925.3:p.Met390Arg |
40/5119 | 0.004 | 1 | Pathogenic | |
| View | 11 | 68701322 | 68701322 | C > T | IGHMBP2 |
NM_002180.2:c.1478C>T |
NP_002171.2:p.Thr493Ile |
6/6913 | 0.00043 | 1 | Pathogenic | |
| View | 11 | 68703756 | 68703756 | G > A | IGHMBP2 |
NM_002180.2:c.1808G>A |
NP_002171.2:p.Arg603His |
5/6913 | 0.00043 | 1 | Pathogenic | |
| View | 11 | 71146886 | 71146886 | C > G | DHCR7 |
NM_001360.2:c.964-1G>C NM_001163817.1:c.964-1G>C |
83/6913 | 0.006 | 1 | Pathogenic | ||
| View | 11 | 71155998 | 71155998 | T > C | DHCR7 |
NM_001163817.1:c.1A>G NM_001360.2:c.1A>G |
NP_001157289.1:p.Met1? NP_001351.2:p.Met1? |
3/6913 | 0.00022 | 1 | Pathogenic | |
| View | 11 | 103091449 | 103091449 | A > G | DYNC2H1 |
NM_001377.2:c.9044A>G NM_001080463.1:c.9044A>G |
NP_001368.2:p.Asp3015Gly NP_001073932.1:p.Asp3015Gly |
9/6913 | 0.00065 | 1 | Pathogenic | |
| View | 11 | 103187273 | 103187273 | G > A | DYNC2H1 |
NM_001080463.1:c.11671-1G>A NM_001377.2:c.11650-1G>A |
1/6913 | 7.0e-05 | 2 | acceptor_site | Pathogenic | |
| View | 11 | 108010834 | 108010834 | C > T | ACAT1 |
NM_000019.3:c.622C>T |
NP_000010.1:p.Arg208Ter |
3/6913 | 0.00022 | 1 | Pathogenic | |
| View | 11 | 118390416 | 118390416 | C > T | KMT2A |
NM_001197104.1:c.11230C>T NM_005933.3:c.11221C>T |
NP_001184033.1:p.Arg3744Ter NP_005924.2:p.Arg3741Ter |
1/5119 | 0.0001 | 2 | premature_stop | Pathogenic |
| View | 11 | 119148880 | 119148880 | A > C | CBL |
NM_005188.3:c.1100A>C |
NP_005179.2:p.Gln367Pro |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 5021268 | 5021268 | G > C | KCNA1 |
NM_000217.2:c.724G>C |
NP_000208.2:p.Ala242Pro |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 6143978 | 6143978 | C > T | VWF |
NM_000552.3:c.2561G>A |
NP_000543.2:p.Arg854Gln |
42/5119 | 0.0042 | 1 | Pathogenic | |
| View | 12 | 48373317 | 48373317 | G > A | COL2A1 |
NM_001844.4:c.2710C>T NM_033150.2:c.2503C>T |
NP_001835.3:p.Arg904Cys NP_149162.2:p.Arg835Cys |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 48374723 | 48374723 | C > A | COL2A1 |
NM_033150.2:c.2285G>T NM_001844.4:c.2492G>T |
NP_149162.2:p.Gly762Val NP_001835.3:p.Gly831Val |
1/5119 | 0.0001 | 1 | non_synonymous | Pathogenic |
| View | 12 | 49445620 | 49445621 | - > A | KMT2D |
NM_003482.3:c.1845dupT |
NP_003473.3:p.Pro616SerfsTer7 |
1/5119 | 0.0001 | 2 | frameshift | Pathogenic |
| View | 12 | 49579508 | 49579508 | C > T | TUBA1A |
NM_001270400.1:c.536G>A NM_001270399.1:c.641G>A NM_006009.3:c.641G>A |
NP_001257329.1:p.Arg179His NP_001257328.1:p.Arg214His NP_006000.2:p.Arg214His |
1/6913 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 102147248 | 102147249 | GA > - | GNPTAB |
NM_024312.4:c.3503_3504del |
NP_077288.2:p.Leu1168GlnfsTer5 |
22/6913 | 0.00159 | 1 | Pathogenic | |
| View | 12 | 103234252 | 103234252 | T > C | PAH |
ENST00000553106.1:c.1241A>G |
ENSP00000448059.1:p.Tyr414Cys |
8/6913 | 0.00058 | 1 | Pathogenic | |
| View | 12 | 103234271 | 103234271 | G > A | PAH |
ENST00000553106.1:c.1222C>T |
ENSP00000448059.1:p.Arg408Trp |
12/6913 | 0.00087 | 1 | Pathogenic | |
| View | 12 | 103238146 | 103238146 | C > A | PAH |
ENST00000553106.1:c.1033G>T |
ENSP00000448059.1:p.Ala345Ser |
1/6913 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 103246653 | 103246653 | C > T | PAH |
ENST00000553106.1:c.782G>A |
ENSP00000448059.1:p.Arg261Gln |
9/6913 | 0.00065 | 1 | Pathogenic | |
| View | 12 | 103249093 | 103249093 | C > A | PAH |
ENST00000553106.1:c.527G>T |
ENSP00000448059.1:p.Arg176Leu |
3/6913 | 0.00022 | 1 | Pathogenic | |
| View | 12 | 103306594 | 103306594 | A > G | PAH |
ENST00000553106.1:c.143T>C |
ENSP00000448059.1:p.Leu48Ser |
8/6913 | 0.00058 | 1 | Pathogenic | |
| View | 12 | 109994886 | 109994886 | G > A | MMAB |
NR_038118.1:n.860C>T NM_052845.3:c.700C>T |
NP_443077.1:p.Gln234Ter |
4/6913 | 0.00029 | 1 | Pathogenic | |
| View | 12 | 112888156 | 112888156 | A > C | PTPN11 |
NM_002834.3:c.172A>C NM_080601.1:c.172A>C |
NP_002825.3:p.Asn58His NP_542168.1:p.Asn58His |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 112888198 | 112888198 | G > T | PTPN11 |
NM_002834.3:c.214G>T NM_080601.1:c.214G>T |
NP_002825.3:p.Ala72Ser NP_542168.1:p.Ala72Ser |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 112888202 | 112888202 | C > T | PTPN11 |
NM_002834.3:c.218C>T NM_080601.1:c.218C>T |
NP_002825.3:p.Thr73Ile NP_542168.1:p.Thr73Ile |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 112915523 | 112915523 | A > G | PTPN11 |
NM_002834.3:c.922A>G NM_080601.1:c.922A>G |
NP_002825.3:p.Asn308Asp NP_542168.1:p.Asn308Asp |
4/5119 | 0.00039 | 1 | Pathogenic | |
| View | 12 | 112926258 | 112926258 | G > C | PTPN11 |
NM_002834.3:c.1391G>C |
NP_002825.3:p.Gly464Ala |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 112926897 | 112926897 | A > C | PTPN11 |
NM_002834.3:c.1517A>C |
NP_002825.3:p.Gln506Pro |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 114836432 | 114836432 | G > - | TBX5 |
NM_181486.2:c.456del NM_000192.3:c.456del NM_080717.2:c.306del |
NP_852259.1:p.Val153SerfsTer21 NP_000183.2:p.Val153SerfsTer21 NP_542448.1:p.Val103SerfsTer21 |
1/5119 | 0.0001 | 1 | Pathogenic | |
| View | 13 | 20763582 | 20763582 | C > A | GJB2 |
NM_004004.5:c.139G>T |
NP_003995.2:p.Glu47Ter |
6/6913 | 0.00043 | 1 | Pathogenic | |
| View | 13 | 20763686 | 20763686 | C > - | GJB2 |
NM_004004.5:c.35del |
NP_003995.2:p.Gly12ValfsTer2 |
150/6913 | 0.01107 | 1 | Pathogenic | |
| View | 13 | 31843415 | 31843415 | G > A | B3GLCT |
NM_194318.3:c.660+1G>A |
5/5119 | 0.00049 | 1 | Pathogenic | ||
| View | 13 | 41381515 | 41381515 | G > A | TPTE2P5 SLC25A15 |
NR_038258.1:n.623-6655C>T NM_014252.3:c.538G>A NR_038259.1:n.452-6655C>T |
NP_055067.1:p.Glu180Lys |
2/6913 | 0.00014 | 1 | Pathogenic | |
| View | 13 | 108861713 | 108861713 | T > - | LIG4 |
NM_002312.3:c.1904del NM_206937.1:c.1904del NM_001098268.1:c.1904del |
NP_002303.2:p.Lys635ArgfsTer10 NP_996820.1:p.Lys635ArgfsTer10 NP_001091738.1:p.Lys635ArgfsTer10 |
2/6913 | 0.00014 | 1 | Pathogenic | |
| View | 14 | 24729019 | 24729019 | T > C | TGM1 |
NM_000359.2:c.877-2A>G |
12/6913 | 0.00087 | 1 | Pathogenic | ||
| View | 14 | 24729150 | 24729150 | C > T | TGM1 |
NM_000359.2:c.872G>A |
NP_000350.1:p.Gly291Asp |
2/6913 | 0.00014 | 1 | Pathogenic | |
| View | 14 | 50628269 | 50628269 | G > C | SOS2 |
NM_006939.2:c.1127C>G |
NP_008870.2:p.Thr376Ser |
1/5119 | 0.0001 | 1 | Pathogenic |