Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View X 2852951 2852951 G > A ARSE NM_000047.2:c.1692C>T
NP_000038.2:p.Asn564=
6170/8745 0.59177 4 Benign
View X 2856155 2856155 C > T ARSE NM_000047.2:c.1270G>A
NP_000038.2:p.Gly424Ser
6396/8745 0.62344 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 2867651 2867651 C > T ARSE NM_000047.2:c.548G>A
NP_000038.2:p.Arg183His
75/8745 0.00589 5 non_synonymous Benign
View X 6146223 6146223 C > T NLGN4X NM_181332.1:c.-306+359G>A
204/4541 0.03402 5 Benign
View X 10491233 10491234 - > AA MID1 MID1 MID1 MID1 MID1 MID1 MID1 MID1 MID1 NM_001193281.1:c.547-8_547-7dupTT
NM_001193280.1:c.547-8_547-7dupTT
NM_033289.1:c.547-8_547-7dupTT
NM_001098624.2:c.661-8_661-7dupTT
NM_001193279.1:c.661-8_661-7dupTT
NM_001193278.1:c.661-8_661-7dupTT
NM_001193277.1:c.661-8_661-7dupTT
NM_033290.3:c.661-8_661-7dupTT
NM_000381.3:c.661-8_661-7dupTT
36/8745 0.00269 4 Common dbSNP MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 13786819 13786819 C > T OFD1 NM_003611.2:c.2929-18C>T
130/8707 0.00925 5 three_prime_flank Benign
View X 15353610 15353610 G > A PIGA PIGA PIGA PIGA NM_002641.3:c.-63+13C>T
NR_033835.1:n.54+13C>T
NR_033836.1:n.54+13C>T
NM_020473.3:c.13+13C>T
18/6916 0.00174 5 five_prime_intronic Benign
View X 18671566 18671566 G > A CDKL5 CDKL5 RS1 NM_001037343.1:c.2995G>A
NM_003159.2:c.2995G>A
NM_000330.3:c.184+3207C>T
NP_001032420.1:p.Val999Met
NP_003150.1:p.Val999Met
88/7609 0.00795 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 18938161 18938161 G > T PHKA2 NM_000292.2:c.1952C>A
NP_000283.1:p.Thr651Asn
58/6955 0.00532 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 19364612 19364612 A > T PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.57+2400A>T
NM_001173456.1:c.57+2400A>T
NM_001173455.1:c.57+2400A>T
NM_001173454.1:c.58-16A>T
94/8707 0.00689 5 three_prime_flank Benign
View X 19364694 19364694 G > A PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.57+2482G>A
NM_001173456.1:c.57+2482G>A
NM_001173455.1:c.57+2482G>A
NM_001173454.1:c.124G>A
NP_001166925.1:p.Gly42Ser
66/8745 0.00537 5 non_synonymous Benign
View X 19367469 19367469 G > C PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.97G>C
NM_001173456.1:c.97G>C
NM_001173455.1:c.97G>C
NM_001173454.1:c.211G>C
NP_000275.1:p.Asp33His
NP_001166927.1:p.Asp33His
NP_001166926.1:p.Asp33His
NP_001166925.1:p.Asp71His
2/8745 0.00017 3 non_synonymous Benign
View X 19375782 19375782 A > C PDHA1 PDHA1 PDHA1 PDHA1 NM_000284.3:c.844A>C
NM_001173456.1:c.751A>C
NM_001173455.1:c.865A>C
NM_001173454.1:c.958A>C
NP_000275.1:p.Met282Leu
NP_001166927.1:p.Met251Leu
NP_001166926.1:p.Met289Leu
NP_001166925.1:p.Met320Leu
85/8745 0.00703 5 Benign
View X 19379640 19379640 G > C PDHA1 MAP3K15 PDHA1 PDHA1 PDHA1 NM_000284.3:c.*1869G>C
NM_001001671.3:c.3751C>G
NM_001173456.1:c.*1869G>C
NM_001173455.1:c.*1869G>C
NM_001173454.1:c.*1869G>C
NP_001001671.3:p.Gln1251Glu
106/8745 0.00835 5 non_synonymous Benign
View X 32383146 32383146 A > T DMD DMD ENST00000378677.2:c.5004T>A
ENST00000357033.4:c.5016T>A
ENSP00000367948.2:p.Asn1668Lys
ENSP00000354923.3:p.Asn1672Lys
52/8745 0.00395 5 Benign
View X 32429940 32429940 A > C DMD DMD ENST00000378677.2:c.4150T>G
ENST00000357033.4:c.4162T>G
ENSP00000367948.2:p.Phe1384Val
ENSP00000354923.3:p.Phe1388Val
72/8745 0.00549 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 32503227 32503227 G > C DMD DMD ENST00000378677.2:c.2611-11C>G
ENST00000357033.4:c.2623-11C>G
97/8707 0.00764 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 32563301 32563301 T > A DMD DMD ENST00000378677.2:c.2131A>T
ENST00000357033.4:c.2143A>T
ENSP00000367948.2:p.Thr711Ser
ENSP00000354923.3:p.Thr715Ser
21/8745 0.00154 5 non_synonymous Benign
View X 32613922 32613922 A > T DMD DMD ENST00000378677.2:c.1542T>A
ENST00000357033.4:c.1554T>A
ENSP00000367948.2:p.Asp514Glu
ENSP00000354923.3:p.Asp518Glu
40/8745 0.00314 5 non_synonymous Benign
View X 32614000 32614000 G > C DMD DMD ENST00000378677.2:c.1471-7C>G
ENST00000357033.4:c.1483-7C>G
13/8745 0.00103 5 polypyrimidine_tract Benign
View X 37663322 37663322 G > C CYBB NM_000397.3:c.1090G>C
NP_000388.2:p.Gly364Arg
51/6955 0.00503 5 non_synonymous Benign
View X 38145632 38145646 CTTCCTCCCCTTCTT > - RPGR RPGR NM_000328.2:c.1905+701_1905+715del
NM_001034853.1:c.2606_2620del
NP_001030025.1:p.Glu869_Glu873del
110/6955 0.01078 5 in_frame_indel Benign
View X 38156584 38156584 T > C RPGR RPGR NM_000328.2:c.1367A>G
NM_001034853.1:c.1367A>G
NP_000319.1:p.Gln456Arg
NP_001030025.1:p.Gln456Arg
109/6955 0.01064 3 non_synonymous Benign
View X 38160526 38160526 T > C RPGR RPGR NM_000328.2:c.1033A>G
NM_001034853.1:c.1033A>G
NP_000319.1:p.Asn345Asp
NP_001030025.1:p.Asn345Asp
91/6955 0.00841 5 non_synonymous Benign
View X 41043236 41043237 - > T USP9X USP9X NM_001039590.2:c.3149-8dupT
NM_001039591.2:c.3149-8dupT
66/6916 0.00615 5 polypyrimidine_tract Benign
View X 44732885 44732885 G > A KDM6A NM_021140.2:c.88G>A
NP_066963.2:p.Ala30Thr
13/6955 0.00108 5 non_synonymous Benign
View X 44935925 44935927 TTT > - KDM6A NM_021140.2:c.2703-7_2703-5del
105/6916 0.00774 5 polypyrimidine_tract Benign
View X 47433684 47433684 T > C SYN1 SYN1 NM_133499.2:c.1699A>G
NM_006950.3:c.1699A>G
NP_598006.1:p.Thr567Ala
NP_008881.2:p.Thr567Ala
36/6955 0.00367 5 Benign
View X 47478976 47478976 G > C SYN1 SYN1 NM_133499.2:c.152C>G
NM_006950.3:c.152C>G
NP_598006.1:p.Ala51Gly
NP_008881.2:p.Ala51Gly
37/6955 0.00367 5 Benign
View X 47487668 47487668 C > T CFP CFP NM_001145252.1:c.236G>A
NM_002621.2:c.236G>A
NP_001138724.1:p.Arg79Gln
NP_002612.1:p.Arg79Gln
3/8745 0.00017 5 non_synonymous Benign
View X 48547112 48547112 T > C WAS NM_000377.2:c.995T>C
NP_000368.1:p.Val332Ala
77/8745 0.00515 5 Benign
View X 48547748 48547748 C > T WAS NM_000377.2:c.1378C>T
NP_000368.1:p.Pro460Ser
23/8745 0.00172 5 Benign
View X 48673306 48673306 G > C HDAC6 NM_006044.2:c.1059+6G>C
1/6955 7.0e-05 5 five_prime_flank Benign
View X 48681595 48681595 T > C HDAC6 NM_006044.2:c.2786T>C
NP_006035.2:p.Ile929Thr
7/6955 0.00079 5 non_synonymous Benign
View X 50341377 50341377 C > A SHROOM4 SHROOM4 NM_020717.3:c.4101G>T
NR_027121.1:n.4127G>T
NP_065768.2:p.Leu1367Phe
83/8745 0.00635 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 50350995 50350995 C > T SHROOM4 SHROOM4 NM_020717.3:c.3147G>A
NR_027121.1:n.3173G>A
NP_065768.2:p.Met1049Ile
45/8745 0.00332 5 non_synonymous Benign
View X 50653796 50653796 A > C BMP15 NM_005448.2:c.13A>C
NP_005439.2:p.Ser5Arg
92/6955 0.00949 5 Benign
View X 53263460 53263460 C > T IQSEC2 IQSEC2 NM_001111125.2:c.4408G>A
NM_015075.1:c.*893G>A
NP_001104595.1:p.Ala1470Thr
92/6955 0.00855 3 non_synonymous Benign
View X 53602185 53602185 A > T HUWE1 NM_031407.5:c.6031-4T>A
40/8745 0.00297 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View X 53607786 53607786 C > T HUWE1 NM_031407.5:c.5716+5G>A
40/8745 0.00297 5 five_prime_flank Benign
View X 53635887 53635887 G > T HUWE1 NM_031407.5:c.2262-17C>A
46/8706 0.00368 5 three_prime_flank Benign
View X 67426446 67426446 G > A OPHN1 NM_002547.2:c.902C>T
NP_002538.1:p.Thr301Met
17/8745 0.00143 5 non_synonymous Benign
View X 68059812 68059812 C > T EFNB1 NM_004429.4:c.509C>T
NP_004420.1:p.Ala170Val
22/8745 0.00172 5 non_synonymous Benign
View X 68836358 68836358 G > T EDA EDA EDA EDA EDA NM_001005609.1:c.206G>T
NM_001005613.2:c.206G>T
NM_001005610.2:c.206G>T
NM_001005612.2:c.206G>T
NM_001399.4:c.206G>T
NP_001005609.1:p.Arg69Leu
NP_001005613.1:p.Arg69Leu
NP_001005610.2:p.Arg69Leu
NP_001005612.2:p.Arg69Leu
NP_001390.1:p.Arg69Leu
69/8745 0.00566 4 Benign
View X 69176938 69176938 G > A EDA EDA EDA NM_001005609.1:c.458G>A
NM_001005612.2:c.458G>A
NM_001399.4:c.458G>A
NP_001005609.1:p.Arg153His
NP_001005612.2:p.Arg153His
NP_001390.1:p.Arg153His
28/8745 0.00229 5 Benign
View X 69563562 69563562 G > T KIF4A ENST00000374403.3:c.1276G>T
ENSP00000363524.3:p.Ala426Ser
15/6955 0.00151 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View X 69665355 69665355 G > A DLG3 NM_021120.3:c.304G>A
NP_066943.2:p.Gly102Ser
47/8745 0.00372 5 non_synonymous Benign
View X 70357135 70357135 G > A MED12 NM_005120.2:c.5650G>A
NP_005111.2:p.Gly1884Ser
28/8745 0.00234 5 non_synonymous Benign
View X 70444261 70444261 T > G GJB1 GJB1 NM_000166.5:c.704T>G
NM_001097642.2:c.704T>G
NP_000157.1:p.Phe235Cys
NP_001091111.1:p.Phe235Cys
7/6955 0.00058 5 Benign
View X 73960146 73960146 G > A NEXMIF NM_001008537.2:c.4246C>T
NP_001008537.1:p.Pro1416Ser
47/6955 0.0041 5 non_synonymous Benign
Displaying 700 through 750 of 797 variants