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Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
---|---|---|---|---|---|---|---|---|---|---|---|---|

View | 6 | 129762003 | 129762003 | A > G | LAMA2 |
ENST00000421865.2:c.6128A>G |
ENSP00000400365.2:p.Gln2043Arg |
5/8004 | 0.00031 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 129762036 | 129762036 | A > G | LAMA2 |
ENST00000421865.2:c.6161A>G |
ENSP00000400365.2:p.Gln2054Arg |
27/8004 | 0.00169 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 129762070 | 129762072 | GAA > - | LAMA2 |
ENST00000421865.2:c.6201_6203del |
ENSP00000400365.2:p.Lys2067del |
1/8004 | 6.0e-05 | 3 | in_frame_indel | Uncertain Significance |

View | 6 | 129762148 | 129762148 | G > C | LAMA2 |
ENST00000421865.2:c.6268+5G>C |
12/8004 | 0.00075 | 3 | five_prime_flank | Uncertain Significance | |

View | 6 | 129833653 | 129833653 | T > C | LAMA2 |
ENST00000421865.2:c.8988+15T>C |
6/7965 | 0.00038 | 3 | five_prime_intronic | Uncertain Significance | |

View | 6 | 135732616 | 135732616 | T > C | AHI1 AHI1 AHI1 AHI1 |
NM_001134832.1:c.2831A>G NM_001134830.1:c.2831A>G NM_017651.4:c.2831A>G NM_001134831.1:c.2831A>G |
NP_001128304.1:p.Gln944Arg NP_001128302.1:p.Gln944Arg NP_060121.3:p.Gln944Arg NP_001128303.1:p.Gln944Arg |
3/8004 | 0.00019 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 135763829 | 135763829 | G > T | AHI1 AHI1 AHI1 AHI1 |
NM_001134832.1:c.1803C>A NM_001134830.1:c.1803C>A NM_017651.4:c.1803C>A NM_001134831.1:c.1803C>A |
NP_001128304.1:p.His601Gln NP_001128302.1:p.His601Gln NP_060121.3:p.His601Gln NP_001128303.1:p.His601Gln |
1/8004 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 135787048 | 135787048 | T > C | AHI1 AHI1 AHI1 AHI1 |
NM_001134832.1:c.653A>G NM_001134830.1:c.653A>G NM_017651.4:c.653A>G NM_001134831.1:c.653A>G |
NP_001128304.1:p.Tyr218Cys NP_001128302.1:p.Tyr218Cys NP_060121.3:p.Tyr218Cys NP_001128303.1:p.Tyr218Cys |
4/8004 | 0.00025 | 3 | Uncertain Significance | |

View | 6 | 135818325 | 135818325 | C > A | AHI1 AHI1 AHI1 AHI1 |
NM_001134832.1:c.-55+1G>T NM_001134830.1:c.-55+396G>T NM_017651.4:c.-55+1G>T NM_001134831.1:c.-140+1G>T |
6/4526 | 0.00066 | 3 | donor_site | Uncertain Significance | |

View | 6 | 145948812 | 145948812 | G > A | EPM2A EPM2A |
NM_005670.3:c.736C>T NM_001018041.1:c.736C>T |
NP_005661.1:p.Pro246Ser NP_001018051.1:p.Pro246Ser |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 146056487 | 146056487 | C > T | EPM2A EPM2A LOC100507557 |
NM_005670.3:c.148G>A NM_001018041.1:c.148G>A NR_038246.1:n.52+431C>T |
NP_005661.1:p.Gly50Arg NP_001018051.1:p.Gly50Arg |
10/8004 | 0.00062 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 146755387 | 146755387 | C > T | GRM1 GRM1 GRM1 GRM1 |
NM_001278065.1:c.*404C>T NM_001278067.1:c.*278C>T NM_001278064.1:c.3040C>T NM_001278066.1:c.*369C>T |
NP_001264993.1:p.Pro1014Ser |
1/6213 | 8.0e-05 | 3 | Uncertain Significance | |

View | 6 | 146755525 | 146755525 | A > G | GRM1 GRM1 GRM1 GRM1 |
NM_001278065.1:c.*542A>G NM_001278067.1:c.*416A>G NM_001278064.1:c.3178A>G NM_001278066.1:c.*507A>G |
NP_001264993.1:p.Asn1060Asp |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 151754311 | 151754311 | G > A | RMND1 RMND1 |
NM_017909.3:c.668C>T NM_001271937.1:c.158C>T |
NP_060379.2:p.Pro223Leu NP_001258866.1:p.Pro53Leu |
4/6213 | 0.00032 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 157099260 | 157099260 | A > G | ARID1B ARID1B |
NM_017519.2:c.197A>G NM_020732.3:c.197A>G |
NP_059989.2:p.Asn66Ser NP_065783.3:p.Asn66Ser |
6/6213 | 0.00048 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 157099715 | 157099715 | C > G | ARID1B ARID1B |
NM_017519.2:c.652C>G NM_020732.3:c.652C>G |
NP_059989.2:p.Pro218Ala NP_065783.3:p.Pro218Ala |
4/6213 | 0.00032 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 157099982 | 157099993 | GGCGGCGGCGGC > - | ARID1B ARID1B |
NM_017519.2:c.933_944del NM_020732.3:c.933_944del |
NP_059989.2:p.Gly316_Gly319del NP_065783.3:p.Gly316_Gly319del |
4/6213 | 0.00032 | 3 | in_frame_indel | Uncertain Significance |

View | 6 | 157100104 | 157100105 | - > GCA | ARID1B ARID1B |
NM_017519.2:c.1049_1051dupCAG NM_020732.3:c.1049_1051dupCAG |
NP_059989.2:p.Ala350dup NP_065783.3:p.Ala350dup |
9/6213 | 0.00072 | 4 | in_frame_indel | Uncertain Significance |

View | 6 | 157100116 | 157100117 | - > GGC | ARID1B ARID1B |
NM_017519.2:c.1069_1071dupGGC NM_020732.3:c.1069_1071dupGGC |
NP_059989.2:p.Gly357dup NP_065783.3:p.Gly357dup |
10/6213 | 0.0008 | 3 | in_frame_indel | Uncertain Significance |

View | 6 | 158589433 | 158589433 | T > G | GTF2H5 |
NM_207118.2:c.-35+6T>G |
1/4526 | 0.00011 | 3 | five_prime_flank | Uncertain Significance | |

View | 6 | 162394349 | 162394349 | G > A | PRKN PRKN PRKN |
NM_013988.2:c.272C>T NM_004562.2:c.719C>T NM_013987.2:c.635C>T |
NP_054643.2:p.Thr91Met NP_004553.2:p.Thr240Met NP_054642.2:p.Thr212Met |
2/6213 | 0.00016 | 3 | Uncertain Significance | |

View | 6 | 170159119 | 170159119 | T > C | ERMARD ERMARD ERMARD ERMARD |
NM_001278531.1:c.563T>C NM_001278533.1:c.563T>C NM_001278532.1:c.185T>C NM_018341.2:c.563T>C |
NP_001265460.1:p.Val188Ala NP_001265462.1:p.Val188Ala NP_001265461.1:p.Val62Ala NP_060811.1:p.Val188Ala |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 170169738 | 170169738 | A > G | ERMARD ERMARD ERMARD ERMARD |
NM_001278531.1:c.1162A>G NM_001278533.1:c.1162A>G NM_001278532.1:c.784A>G NM_018341.2:c.1162A>G |
NP_001265460.1:p.Asn388Asp NP_001265462.1:p.Asn388Asp NP_001265461.1:p.Asn262Asp NP_060811.1:p.Asn388Asp |
43/6213 | 0.00346 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 193451 | 193451 | C > A | FAM20C |
NM_020223.3:c.252C>A |
NP_064608.2:p.Asn84Lys |
8/8004 | 0.00062 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 2577816 | 2577816 | G > A | BRAT1 |
NM_152743.3:c.2353C>T |
NP_689956.2:p.Arg785Trp |
46/6213 | 0.0037 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 2578128 | 2578128 | C > T | BRAT1 |
NM_152743.3:c.2041G>A |
NP_689956.2:p.Glu681Lys |
13/6213 | 0.00105 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 2578290 | 2578290 | C > T | BRAT1 |
NM_152743.3:c.1879G>A |
NP_689956.2:p.Ala627Thr |
3/6213 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 19156851 | 19156851 | C > T | TWIST1 |
NM_000474.3:c.94G>A |
NP_000465.1:p.Gly32Ser |
21/6213 | 0.00169 | 3 | Uncertain Significance | |

View | 7 | 21784180 | 21784180 | A > G | DNAH11 |
NM_001277115.1:c.8279A>G |
NP_001264044.1:p.Gln2760Arg |
6/6213 | 0.00048 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 21784506 | 21784506 | C > A | DNAH11 |
NM_001277115.1:c.8335C>A |
NP_001264044.1:p.Leu2779Met |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 23017919 | 23017919 | A > G | FAM126A |
NM_032581.3:c.302T>C |
NP_115970.2:p.Ile101Thr |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 33312657 | 33312657 | C > T | BBS9 BBS9 BBS9 BBS9 |
NM_198428.2:c.736C>T NM_014451.3:c.736C>T NM_001033605.1:c.736C>T NM_001033604.1:c.736C>T |
NP_940820.1:p.Leu246Phe NP_055266.2:p.Leu246Phe NP_001028777.1:p.Leu246Phe NP_001028776.1:p.Leu246Phe |
3/6213 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 33573603 | 33573603 | T > A | BBS9 BBS9 BBS9 BBS9 |
NM_198428.2:c.2336T>A NM_014451.3:c.2216T>A NM_001033605.1:c.2321T>A NM_001033604.1:c.2231T>A |
NP_940820.1:p.Leu779Gln NP_055266.2:p.Leu739Gln NP_001028777.1:p.Leu774Gln NP_001028776.1:p.Leu744Gln |
5/6213 | 0.0004 | 3 | Uncertain Significance | |

View | 7 | 33573701 | 33573701 | A > T | BBS9 BBS9 BBS9 BBS9 |
NM_198428.2:c.2434A>T NM_014451.3:c.2314A>T NM_001033605.1:c.2419A>T NM_001033604.1:c.2329A>T |
NP_940820.1:p.Ile812Phe NP_055266.2:p.Ile772Phe NP_001028777.1:p.Ile807Phe NP_001028776.1:p.Ile777Phe |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 33644596 | 33644596 | C > A | BBS9 BBS9 BBS9 BBS9 |
NM_198428.2:c.2632+9C>A NM_014451.3:c.2512+9C>A NM_001033605.1:c.2617+9C>A NM_001033604.1:c.2527+9C>A |
11/6213 | 0.00097 | 3 | five_prime_intronic | Uncertain Significance | |

View | 7 | 33946413 | 33946413 | T > C | BMPER |
NM_133468.4:c.134-17T>C |
1/6174 | 8.0e-05 | 3 | three_prime_flank | Uncertain Significance | |

View | 7 | 35280519 | 35280519 | G > C | TBX20 TBX20 |
NM_001077653.2:c.785C>G NM_001166220.1:c.785C>G |
NP_001071121.1:p.Thr262Arg NP_001159692.1:p.Thr262Arg |
1/6213 | 8.0e-05 | 1 | Uncertain Significance | |

View | 7 | 39990577 | 39990577 | C > T | CDK13 CDK13 |
NM_031267.3:c.337C>T NM_003718.4:c.337C>T |
NP_112557.2:p.Gln113Ter NP_003709.3:p.Gln113Ter |
2/6174 | 0.00016 | 3 | premature_stop | Uncertain Significance |

View | 7 | 50611663 | 50611663 | G > T | DDC DDC DDC DDC DDC |
ENST00000380984.4:c.121C>A ENST00000426377.1:c.121C>A ENST00000431062.1:c.121C>A ENST00000444124.2:c.121C>A ENST00000357936.5:c.121C>A |
ENSP00000370371.4:p.Leu41Met ENSP00000395069.1:p.Leu41Met ENSP00000399184.1:p.Leu41Met ENSP00000403644.2:p.Leu41Met ENSP00000350616.5:p.Leu41Met |
1/8004 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 65551777 | 65551777 | C > T | ASL ASL ASL ASL |
NM_001024946.1:c.524+128C>T NM_000048.3:c.571C>T NM_001024944.1:c.571C>T NM_001024943.1:c.571C>T |
NP_000039.2:p.Arg191Trp NP_001020115.1:p.Arg191Trp NP_001020114.1:p.Arg191Trp |
2/8004 | 0.00012 | 3 | Uncertain Significance | |

View | 7 | 65557849 | 65557849 | G > A | ASL ASL ASL ASL |
NM_001024946.1:c.1267G>A NM_000048.3:c.1345G>A NM_001024944.1:c.1285G>A NM_001024943.1:c.1345G>A |
NP_001020117.1:p.Asp423Asn NP_000039.2:p.Asp449Asn NP_001020115.1:p.Asp429Asn NP_001020114.1:p.Asp449Asn |
3/8004 | 0.00019 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 70255500 | 70255500 | C > G | AUTS2 AUTS2 |
NM_001127231.1:c.3226C>G NM_015570.2:c.3298C>G |
NP_001120703.1:p.Pro1076Ala NP_056385.1:p.Pro1100Ala |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 73480318 | 73480318 | C > T | ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN |
NM_001278915.1:c.2095C>T NM_001278917.1:c.2047C>T NM_001278916.1:c.1888+256C>T NM_001278913.1:c.1834C>T NM_000501.3:c.2077C>T NM_001081755.2:c.2020C>T NM_001278912.1:c.2032+256C>T NM_001081754.2:c.2047+256C>T NM_001278939.1:c.2263C>T NM_001278918.1:c.1765+256C>T NM_001081752.2:c.1945+256C>T NM_001081753.2:c.1990+256C>T NM_001278914.1:c.2005C>T |
NP_001265844.1:p.Pro699Ser NP_001265846.1:p.Pro683Ser NP_001265842.1:p.Pro612Ser NP_000492.2:p.Pro693Ser NP_001075224.1:p.Pro674Ser NP_001265868.1:p.Pro755Ser NP_001265843.1:p.Pro669Ser |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 75695627 | 75695627 | G > A | MDH2 |
NM_005918.2:c.916G>A |
NP_005909.2:p.Gly306Ser |
7/6213 | 0.00056 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 82579067 | 82579067 | C > A | PCLO PCLO |
NM_033026.5:c.10837G>T NM_014510.2:c.10837G>T |
NP_149015.2:p.Ala3613Ser NP_055325.2:p.Ala3613Ser |
8/6213 | 0.00064 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 82583853 | 82583853 | T > C | PCLO PCLO |
NM_033026.5:c.6416A>G NM_014510.2:c.6416A>G |
NP_149015.2:p.Glu2139Gly NP_055325.2:p.Glu2139Gly |
4/6213 | 0.00032 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 87069546 | 87069546 | T > C | ABCB4 ABCB4 ABCB4 |
NM_000443.3:c.1529A>G NM_018850.2:c.1529A>G NM_018849.2:c.1529A>G |
NP_000434.1:p.Asn510Ser NP_061338.1:p.Asn510Ser NP_061337.1:p.Asn510Ser |
4/8223 | 0.00024 | 3 | Uncertain Significance | |

View | 7 | 97482383 | 97482383 | C > T | ASNS ASNS ASNS ASNS ASNS ASNS |
NM_133436.3:c.1465G>A NM_001673.4:c.1465G>A NM_183356.3:c.1465G>A NM_001178076.1:c.1216G>A NM_001178075.1:c.1402G>A NM_001178077.1:c.1216G>A |
NP_597680.2:p.Val489Ile NP_001664.3:p.Val489Ile NP_899199.2:p.Val489Ile NP_001171547.1:p.Val406Ile NP_001171546.1:p.Val468Ile NP_001171548.1:p.Val406Ile |
4/6213 | 0.00032 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 97482484 | 97482484 | G > A | ASNS ASNS ASNS ASNS ASNS ASNS |
NM_133436.3:c.1364C>T NM_001673.4:c.1364C>T NM_183356.3:c.1364C>T NM_001178076.1:c.1115C>T NM_001178075.1:c.1301C>T NM_001178077.1:c.1115C>T |
NP_597680.2:p.Ser455Phe NP_001664.3:p.Ser455Phe NP_899199.2:p.Ser455Phe NP_001171547.1:p.Ser372Phe NP_001171546.1:p.Ser434Phe NP_001171548.1:p.Ser372Phe |
23/6213 | 0.00185 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 98782671 | 98782671 | G > T | KPNA7 |
NM_001145715.1:c.1015C>A |
NP_001139187.1:p.Pro339Thr |
2/6213 | 0.00016 | 1 | Uncertain Significance |