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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 | 129470136 | 129470136 | G > A | LAMA2 |
ENST00000421865.2:c.922G>A |
ENSP00000400365.2:p.Glu308Lys |
32/10521 | 0.00152 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 129762003 | 129762003 | A > G | LAMA2 |
ENST00000421865.2:c.6128A>G |
ENSP00000400365.2:p.Gln2043Arg |
5/10521 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 129762036 | 129762036 | A > G | LAMA2 |
ENST00000421865.2:c.6161A>G |
ENSP00000400365.2:p.Gln2054Arg |
30/10521 | 0.00143 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 129762070 | 129762072 | GAA > - | LAMA2 |
ENST00000421865.2:c.6201_6203del |
ENSP00000400365.2:p.Lys2067del |
1/10521 | 5.0e-05 | 3 | in_frame_indel | Uncertain Significance |

View | 6 | 129762148 | 129762148 | G > C | LAMA2 |
ENST00000421865.2:c.6268+5G>C |
16/10521 | 0.00076 | 3 | five_prime_flank | Uncertain Significance | |

View | 6 | 129833653 | 129833653 | T > C | LAMA2 |
ENST00000421865.2:c.8988+15T>C |
6/10482 | 0.00029 | 3 | five_prime_intronic | Uncertain Significance | |

View | 6 | 135732616 | 135732616 | T > C | AHI1 AHI1 AHI1 AHI1 |
NM_001134832.1:c.2831A>G NM_001134831.1:c.2831A>G NM_017651.4:c.2831A>G NM_001134830.1:c.2831A>G |
NP_001128304.1:p.Gln944Arg NP_001128303.1:p.Gln944Arg NP_060121.3:p.Gln944Arg NP_001128302.1:p.Gln944Arg |
4/10521 | 0.00019 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 135763829 | 135763829 | G > T | AHI1 AHI1 AHI1 AHI1 |
NM_001134832.1:c.1803C>A NM_001134831.1:c.1803C>A NM_017651.4:c.1803C>A NM_001134830.1:c.1803C>A |
NP_001128304.1:p.His601Gln NP_001128303.1:p.His601Gln NP_060121.3:p.His601Gln NP_001128302.1:p.His601Gln |
1/10521 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 135787048 | 135787048 | T > C | AHI1 AHI1 AHI1 AHI1 |
NM_001134832.1:c.653A>G NM_001134831.1:c.653A>G NM_017651.4:c.653A>G NM_001134830.1:c.653A>G |
NP_001128304.1:p.Tyr218Cys NP_001128303.1:p.Tyr218Cys NP_060121.3:p.Tyr218Cys NP_001128302.1:p.Tyr218Cys |
4/10521 | 0.00019 | 3 | Uncertain Significance | |

View | 6 | 135818325 | 135818325 | C > A | AHI1 AHI1 AHI1 AHI1 |
NM_001134832.1:c.-55+1G>T NM_001134831.1:c.-140+1G>T NM_017651.4:c.-55+1G>T NM_001134830.1:c.-55+396G>T |
6/4656 | 0.00064 | 3 | donor_site | Uncertain Significance | |

View | 6 | 145948812 | 145948812 | G > A | EPM2A EPM2A |
NM_001018041.1:c.736C>T NM_005670.3:c.736C>T |
NP_001018051.1:p.Pro246Ser NP_005661.1:p.Pro246Ser |
3/10521 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 146056487 | 146056487 | C > T | EPM2A LOC100507557 EPM2A |
NM_001018041.1:c.148G>A NR_038246.1:n.52+431C>T NM_005670.3:c.148G>A |
NP_001018051.1:p.Gly50Arg NP_005661.1:p.Gly50Arg |
13/10521 | 0.00067 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 146755387 | 146755387 | C > T | GRM1 GRM1 GRM1 GRM1 |
NM_001278067.1:c.*278C>T NM_001278066.1:c.*369C>T NM_001278065.1:c.*404C>T NM_001278064.1:c.3040C>T |
NP_001264993.1:p.Pro1014Ser |
1/8685 | 6.0e-05 | 3 | Uncertain Significance | |

View | 6 | 146755525 | 146755525 | A > G | GRM1 GRM1 GRM1 GRM1 |
NM_001278067.1:c.*416A>G NM_001278066.1:c.*507A>G NM_001278065.1:c.*542A>G NM_001278064.1:c.3178A>G |
NP_001264993.1:p.Asn1060Asp |
3/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 151754311 | 151754311 | G > A | RMND1 RMND1 |
NM_001271937.1:c.158C>T NM_017909.3:c.668C>T |
NP_001258866.1:p.Pro53Leu NP_060379.2:p.Pro223Leu |
6/8685 | 0.00035 | 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 |
6/8685 | 0.00035 | 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 |
5/8685 | 0.00029 | 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 |
4/8685 | 0.00023 | 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 |
10/8685 | 0.00058 | 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 |
17/8685 | 0.00098 | 3 | in_frame_indel | Uncertain Significance |

View | 6 | 158589433 | 158589433 | T > G | GTF2H5 |
NM_207118.2:c.-35+6T>G |
1/4656 | 0.00011 | 3 | five_prime_flank | Uncertain Significance | |

View | 6 | 162394349 | 162394349 | G > A | PRKN PRKN PRKN |
NM_013988.2:c.272C>T NM_013987.2:c.635C>T NM_004562.2:c.719C>T |
NP_054643.2:p.Thr91Met NP_054642.2:p.Thr212Met NP_004553.2:p.Thr240Met |
3/8685 | 0.00017 | 3 | Uncertain Significance | |

View | 6 | 165829670 | 165829670 | T > C | PDE10A PDE10A |
NM_001130690.2:c.1091+7A>G NR_045597.1:n.1306+7A>G |
1/8685 | 6.0e-05 | 3 | five_prime_intronic | Uncertain Significance | |

View | 6 | 170159119 | 170159119 | T > C | ERMARD ERMARD ERMARD ERMARD |
NM_018341.2:c.563T>C NM_001278531.1:c.563T>C NM_001278532.1:c.185T>C NM_001278533.1:c.563T>C |
NP_060811.1:p.Val188Ala NP_001265460.1:p.Val188Ala NP_001265461.1:p.Val62Ala NP_001265462.1:p.Val188Ala |
8/8685 | 0.00046 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 170169738 | 170169738 | A > G | ERMARD ERMARD ERMARD ERMARD |
NM_018341.2:c.1162A>G NM_001278531.1:c.1162A>G NM_001278532.1:c.784A>G NM_001278533.1:c.1162A>G |
NP_060811.1:p.Asn388Asp NP_001265460.1:p.Asn388Asp NP_001265461.1:p.Asn262Asp NP_001265462.1:p.Asn388Asp |
56/8685 | 0.00322 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 193451 | 193451 | C > A | FAM20C |
NM_020223.3:c.252C>A |
NP_064608.2:p.Asn84Lys |
12/10521 | 0.00067 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 2578128 | 2578128 | C > T | BRAT1 |
NM_152743.3:c.2041G>A |
NP_689956.2:p.Glu681Lys |
14/8685 | 0.00081 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 2578290 | 2578290 | C > T | BRAT1 |
NM_152743.3:c.1879G>A |
NP_689956.2:p.Ala627Thr |
5/8685 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 2579228 | 2579228 | A > G | BRAT1 |
NM_152743.3:c.1547T>C |
NP_689956.2:p.Val516Ala |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 19156851 | 19156851 | C > T | TWIST1 |
NM_000474.3:c.94G>A |
NP_000465.1:p.Gly32Ser |
30/8685 | 0.00173 | 3 | Uncertain Significance | |

View | 7 | 21628196 | 21628196 | C > T | DNAH11 |
NM_001277115.1:c.1915C>T |
NP_001264044.1:p.Gln639Ter |
4/8685 | 0.00023 | 3 | premature_stop | Uncertain Significance |

View | 7 | 21639556 | 21639556 | C > T | DNAH11 |
NM_001277115.1:c.2819C>T |
NP_001264044.1:p.Pro940Leu |
4/8685 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 21784180 | 21784180 | A > G | DNAH11 |
NM_001277115.1:c.8279A>G |
NP_001264044.1:p.Gln2760Arg |
9/8685 | 0.00052 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 21784506 | 21784506 | C > A | DNAH11 |
NM_001277115.1:c.8335C>A |
NP_001264044.1:p.Leu2779Met |
3/8685 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 23017919 | 23017919 | A > G | FAM126A |
NM_032581.3:c.302T>C |
NP_115970.2:p.Ile101Thr |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 33312657 | 33312657 | C > T | BBS9 BBS9 BBS9 BBS9 |
NM_014451.3:c.736C>T NM_198428.2:c.736C>T NM_001033605.1:c.736C>T NM_001033604.1:c.736C>T |
NP_055266.2:p.Leu246Phe NP_940820.1:p.Leu246Phe NP_001028777.1:p.Leu246Phe NP_001028776.1:p.Leu246Phe |
6/8685 | 0.00035 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 33573603 | 33573603 | T > A | BBS9 BBS9 BBS9 BBS9 |
NM_014451.3:c.2216T>A NM_198428.2:c.2336T>A NM_001033605.1:c.2321T>A NM_001033604.1:c.2231T>A |
NP_055266.2:p.Leu739Gln NP_940820.1:p.Leu779Gln NP_001028777.1:p.Leu774Gln NP_001028776.1:p.Leu744Gln |
12/8685 | 0.00069 | 3 | Uncertain Significance | |

View | 7 | 33573701 | 33573701 | A > T | BBS9 BBS9 BBS9 BBS9 |
NM_014451.3:c.2314A>T NM_198428.2:c.2434A>T NM_001033605.1:c.2419A>T NM_001033604.1:c.2329A>T |
NP_055266.2:p.Ile772Phe NP_940820.1:p.Ile812Phe NP_001028777.1:p.Ile807Phe NP_001028776.1:p.Ile777Phe |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 33644596 | 33644596 | C > A | BBS9 BBS9 BBS9 BBS9 |
NM_014451.3:c.2512+9C>A NM_198428.2:c.2632+9C>A NM_001033605.1:c.2617+9C>A NM_001033604.1:c.2527+9C>A |
13/8685 | 0.00081 | 3 | five_prime_intronic | Uncertain Significance | |

View | 7 | 33946413 | 33946413 | T > C | BMPER |
NM_133468.4:c.134-17T>C |
1/8646 | 6.0e-05 | 3 | three_prime_flank | Uncertain Significance | |

View | 7 | 35280519 | 35280519 | G > C | TBX20 TBX20 |
NM_001166220.1:c.785C>G NM_001077653.2:c.785C>G |
NP_001159692.1:p.Thr262Arg NP_001071121.1:p.Thr262Arg |
1/8685 | 6.0e-05 | 1 | Uncertain Significance | |

View | 7 | 39990577 | 39990577 | C > T | CDK13 CDK13 |
NM_003718.4:c.337C>T NM_031267.3:c.337C>T |
NP_003709.3:p.Gln113Ter NP_112557.2:p.Gln113Ter |
2/8646 | 0.00012 | 3 | premature_stop | Uncertain Significance |

View | 7 | 40134485 | 40134485 | C > G | CDK13 CDK13 |
NM_003718.4:c.4445C>G NM_031267.3:c.4265C>G |
NP_003709.3:p.Thr1482Ser NP_112557.2:p.Thr1422Ser |
1/8646 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 50611663 | 50611663 | G > T | DDC DDC DDC DDC DDC |
ENST00000426377.1:c.121C>A ENST00000431062.1:c.121C>A ENST00000380984.4:c.121C>A ENST00000357936.5:c.121C>A ENST00000444124.2:c.121C>A |
ENSP00000395069.1:p.Leu41Met ENSP00000399184.1:p.Leu41Met ENSP00000370371.4:p.Leu41Met ENSP00000350616.5:p.Leu41Met ENSP00000403644.2:p.Leu41Met |
2/10521 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 65551777 | 65551777 | C > T | ASL ASL ASL ASL |
NM_000048.3:c.571C>T NM_001024943.1:c.571C>T NM_001024944.1:c.571C>T NM_001024946.1:c.524+128C>T |
NP_000039.2:p.Arg191Trp NP_001020114.1:p.Arg191Trp NP_001020115.1:p.Arg191Trp |
2/10521 | 0.0001 | 3 | Uncertain Significance | |

View | 7 | 65557849 | 65557849 | G > A | ASL ASL ASL ASL |
NM_000048.3:c.1345G>A NM_001024943.1:c.1345G>A NM_001024944.1:c.1285G>A NM_001024946.1:c.1267G>A |
NP_000039.2:p.Asp449Asn NP_001020114.1:p.Asp449Asn NP_001020115.1:p.Asp429Asn NP_001020117.1:p.Asp423Asn |
3/10521 | 0.00014 | 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 |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 72861629 | 72861630 | - > C | BAZ1B |
NM_032408.3:c.3808dupG |
NP_115784.1:p.Glu1270GlyfsTer7 |
1/8685 | 6.0e-05 | 2 | frameshift | Uncertain Significance |

View | 7 | 73480318 | 73480318 | C > T | ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN ELN |
NM_001278918.1:c.1765+256C>T NM_001278917.1:c.2047C>T NM_001278939.1:c.2263C>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_001081753.2:c.1990+256C>T NM_001081752.2:c.1945+256C>T NM_001278916.1:c.1888+256C>T NM_001278915.1:c.2095C>T NM_001278914.1:c.2005C>T NM_001278913.1:c.1834C>T |
NP_001265846.1:p.Pro683Ser NP_001265868.1:p.Pro755Ser NP_000492.2:p.Pro693Ser NP_001075224.1:p.Pro674Ser NP_001265844.1:p.Pro699Ser NP_001265843.1:p.Pro669Ser NP_001265842.1:p.Pro612Ser |
1/8685 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 7 | 75695627 | 75695627 | G > A | MDH2 |
NM_005918.2:c.916G>A |
NP_005909.2:p.Gly306Ser |
7/8685 | 0.0004 | 3 | non_synonymous | Uncertain Significance |