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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View X 99661978 99661978 G > A PCDH19 PCDH19 PCDH19 NM_001105243.1:c.1618C>T
NM_001184880.1:c.1618C>T
NM_020766.2:c.1618C>T
NP_001098713.1:p.Leu540Phe
NP_001171809.1:p.Leu540Phe
NP_065817.2:p.Leu540Phe
3/10521 0.00019 4 non_synonymous Likely Benign
View X 99919875 99919875 C > G SRPX2 NM_014467.2:c.460C>G
NP_055282.1:p.His154Asp
16/8685 0.00144 4 non_synonymous Likely Benign
View X 99922289 99922289 A > G SRPX2 NM_014467.2:c.980A>G
NP_055282.1:p.Asn327Ser
10/8685 0.00086 4 Likely Benign
View X 100615717 100615717 C > A BTK NM_000061.2:c.615G>T
NP_000052.1:p.Glu205Asp
36/10521 0.00238 4 Likely Benign
View X 100653420 100653420 C > A GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.937G>T
NM_001199973.1:c.408+2975C>A
NM_001199974.1:c.285+6610C>A
NP_000160.1:p.Asp313Tyr
57/10521 0.00356 3 Likely Benign
View X 101096548 101096548 G > T NXF5 NXF5 NM_032946.2:c.241-18C>A
NR_028089.1:n.601-18C>A
32/10482 0.00215 4 three_prime_flank Likely Benign
View X 103031893 103031893 C > T PLP1 PLP1 PLP1 NM_001128834.1:c.-31C>T
NM_000533.3:c.-31C>T
NM_199478.1:c.-31C>T
32/10482 0.00205 4 Likely Benign
View X 107084632 107084632 G > A MID2 MID2 NM_012216.3:c.720+17G>A
NM_052817.2:c.720+17G>A
11/8646 0.00081 4 five_prime_intronic Likely Benign
View X 107159224 107159224 T > - MID2 MID2 NM_012216.3:c.1074-4del
NM_052817.2:c.1074-4del
18/8685 0.00132 4 polypyrimidine_tract Likely Benign
View X 107844691 107844691 A > G COL4A5 COL4A5 NM_000495.4:c.2017A>G
NM_033380.2:c.2017A>G
NP_000486.1:p.Arg673Gly
NP_203699.1:p.Arg673Gly
9/10521 0.00067 4 Likely Benign
View X 107869481 107869481 C > T COL4A5 COL4A5 NM_000495.4:c.3148C>T
NM_033380.2:c.3148C>T
NP_000486.1:p.Pro1050Ser
NP_203699.1:p.Pro1050Ser
7/10521 0.00043 4 non_synonymous Likely Benign
View X 108902572 108902572 T > C ACSL4 ACSL4 NM_022977.2:c.1978+11A>G
NM_004458.2:c.1855+11A>G
44/10482 0.00267 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View X 108908714 108908714 T > C ACSL4 ACSL4 NM_022977.2:c.1448A>G
NM_004458.2:c.1325A>G
NP_075266.1:p.Tyr483Cys
NP_004449.1:p.Tyr442Cys
10/10521 0.00071 4 non_synonymous Likely Benign
View X 108921491 108921491 T > C ACSL4 ACSL4 NM_022977.2:c.929+3A>G
NM_004458.2:c.806+3A>G
34/10521 0.00209 4 five_prime_flank Likely Benign
View X 110987996 110987997 - > CCT ALG13 ALG13 ALG13 ALG13 ALG13 NM_001257231.1:c.2599_2601dupCCT
NM_001257234.1:c.2383+7926_2383+7928dupCCT
NM_001257237.1:c.2383+7926_2383+7928dupCCT
NM_001099922.2:c.2833_2835dupCCT
NM_001257230.1:c.2383+7926_2383+7928dupCCT
NP_001244160.1:p.Pro867dup
NP_001093392.1:p.Pro945dup
110/8685 0.00748 4 in_frame_indel Likely Benign
View X 122387282 122387282 G > A GRIA3 GRIA3 ENST00000371256.5:c.397G>A
ENST00000264357.5:c.397G>A
ENSP00000360302.5:p.Ala133Thr
ENSP00000264357.5:p.Ala133Thr
3/8685 0.00017 4 non_synonymous Likely Benign
View X 122759746 122759746 T > G THOC2 NM_001081550.1:c.3057+17A>C
4/8646 0.00029 4 five_prime_intronic Likely Benign
View X 122799704 122799707 AAAT > - THOC2 NM_001081550.1:c.1191-19_1191-16del
21/8646 0.00179 4 three_prime_flank Likely Benign
View X 122805622 122805623 - > A THOC2 NM_001081550.1:c.769-11dupT
45/8686 0.00305 4 polypyrimidine_tract Likely Benign
View X 122846681 122846681 A > T THOC2 NM_001081550.1:c.130+19T>A
22/8646 0.00156 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View X 123034381 123034381 A > G XIAP XIAP XIAP NM_001167.3:c.1138A>G
NR_037916.1:n.388A>G
NM_001204401.1:c.1138A>G
NP_001158.2:p.Ile380Val
NP_001191330.1:p.Ile380Val
2/10521 0.00014 4 non_synonymous Likely Benign
View X 128674722 128674722 C > T OCRL OCRL NM_000276.3:c.41C>T
NM_001587.3:c.41C>T
NP_000267.2:p.Thr14Ile
NP_001578.2:p.Thr14Ile
91/10521 0.00575 4 non_synonymous Likely Benign
View X 132826404 132826404 C > T GPC3 GPC3 GPC3 GPC3 NM_004484.3:c.1285G>A
NM_001164618.1:c.1237G>A
NM_001164619.1:c.1123G>A
NM_001164617.1:c.1354G>A
NP_004475.1:p.Val429Met
NP_001158090.1:p.Val413Met
NP_001158091.1:p.Val375Met
NP_001158089.1:p.Val452Met
91/10521 0.0057 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View X 132887546 132887546 T > C GPC3 GPC3 GPC3 GPC3 NM_004484.3:c.995A>G
NM_001164618.1:c.947A>G
NM_001164619.1:c.833A>G
NM_001164617.1:c.995A>G
NP_004475.1:p.Gln332Arg
NP_001158090.1:p.Gln316Arg
NP_001158091.1:p.Gln278Arg
NP_001158089.1:p.Gln332Arg
4/10521 0.00029 4 non_synonymous Likely Benign
View X 132887715 132887715 C > T GPC3 GPC3 GPC3 GPC3 NM_004484.3:c.826G>A
NM_001164618.1:c.778G>A
NM_001164619.1:c.664G>A
NM_001164617.1:c.826G>A
NP_004475.1:p.Gly276Ser
NP_001158090.1:p.Gly260Ser
NP_001158091.1:p.Gly222Ser
NP_001158089.1:p.Gly276Ser
6/10521 0.00043 4 non_synonymous Likely Benign
View X 135115628 135115628 G > A SLC9A6 SLC9A6 SLC9A6 NM_001177651.1:c.1547G>A
NM_001042537.1:c.1703G>A
NM_006359.2:c.1607G>A
NP_001171122.1:p.Arg516Gln
NP_001036002.1:p.Arg568Gln
NP_006350.1:p.Arg536Gln
34/10521 0.00214 4 non_synonymous Likely Benign
View X 135772873 135772873 C > T ARHGEF6 NM_004840.2:c.1081G>A
NP_004831.1:p.Ala361Thr
1/10521 5.0e-05 4 non_synonymous Likely Benign
View X 135790866 135790866 C > A ARHGEF6 NM_004840.2:c.891G>T
NP_004831.1:p.Gln297His
28/10521 0.00171 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View X 135827479 135827479 C > T ARHGEF6 NM_004840.2:c.362G>A
NP_004831.1:p.Arg121His
76/10521 0.00485 4 non_synonymous Likely Benign
View X 135829660 135829660 G > A ARHGEF6 NM_004840.2:c.334+7C>T
16/10521 0.001 4 five_prime_intronic Likely Benign
View X 135861667 135861667 A > G ARHGEF6 NM_004840.2:c.166-11T>C
43/10482 0.00277 4 Likely Benign
View X 136112910 136112910 C > T GPR101 NM_054021.1:c.924G>A
NP_473362.1:p.Glu308=
16/8685 0.00121 4 Likely Benign
View X 136113122 136113122 C > T GPR101 NM_054021.1:c.712G>A
NP_473362.1:p.Val238Ile
54/8685 0.00391 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View X 136649499 136649499 C > G ZIC3 NM_003413.3:c.649C>G
NP_003404.1:p.Pro217Ala
29/10521 0.002 4 Likely Benign
View X 147733566 147733566 C > T AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.94C>T
NM_001169124.1:c.94C>T
NM_001169123.1:c.94C>T
NM_001169125.1:c.94C>T
NM_002025.3:c.94C>T
NP_001162593.1:p.Arg32Trp
NP_001162595.1:p.Arg32Trp
NP_001162594.1:p.Arg32Trp
NP_001162596.1:p.Arg32Trp
NP_002016.2:p.Arg32Trp
1/10521 0.0001 4 non_synonymous Likely Benign
View X 147743744 147743744 C > T AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.484C>T
NM_001169124.1:c.496C>T
NM_001169123.1:c.484C>T
NM_001169125.1:c.484C>T
NM_002025.3:c.496C>T
NP_001162593.1:p.Pro162Ser
NP_001162595.1:p.Pro166Ser
NP_001162594.1:p.Pro162Ser
NP_001162596.1:p.Pro162Ser
NP_002016.2:p.Pro166Ser
34/10521 0.00181 4 non_synonymous Likely Benign
View X 147800773 147800773 G > C AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.1029+56484G>C
NM_001169124.1:c.1041+56484G>C
NM_001169123.1:c.1029+56484G>C
NM_001170628.1:c.51+18G>C
NM_001169125.1:c.1029+56484G>C
NM_002025.3:c.1041+56484G>C
115/10482 0.00716 4 five_prime_intronic Likely Benign
View X 148037215 148037215 G > A AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.1541G>A
NM_001169124.1:c.1535G>A
NM_001169123.1:c.1610G>A
NM_001170628.1:c.563G>A
NM_001169125.1:c.1523G>A
NM_002025.3:c.1640G>A
NP_001162593.1:p.Gly514Asp
NP_001162595.1:p.Gly512Asp
NP_001162594.1:p.Gly537Asp
NP_001164099.1:p.Gly188Asp
NP_001162596.1:p.Gly508Asp
NP_002016.2:p.Gly547Asp
2/10521 0.0001 4 Likely Benign
View X 148044334 148044334 G > A AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 NM_001169122.1:c.2681G>A
NM_001169124.1:c.2675G>A
NM_001169123.1:c.2750G>A
NM_001170628.1:c.1703G>A
NM_001169125.1:c.2663G>A
NM_002025.3:c.2780G>A
NP_001162593.1:p.Arg894His
NP_001162595.1:p.Arg892His
NP_001162594.1:p.Arg917His
NP_001164099.1:p.Arg568His
NP_001162596.1:p.Arg888His
NP_002016.2:p.Arg927His
26/10521 0.00162 4 Likely Benign
View X 148579705 148579705 G > A IDS IDS IDS NM_000202.5:c.641C>T
NM_001166550.1:c.371C>T
NM_006123.4:c.641C>T
NP_000193.1:p.Thr214Met
NP_001160022.1:p.Thr124Met
NP_006114.1:p.Thr214Met
66/10521 0.00423 4 Likely Benign
View X 152014893 152014893 A > G NSDHL NSDHL NM_015922.2:c.25A>G
NM_001129765.1:c.25A>G
NP_057006.1:p.Met9Val
NP_001123237.1:p.Met9Val
45/8685 0.00357 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View X 152037646 152037646 C > T NSDHL NSDHL NM_015922.2:c.1108C>T
NM_001129765.1:c.1108C>T
NP_057006.1:p.Arg370Trp
NP_001123237.1:p.Arg370Trp
4/8685 0.00029 4 non_synonymous Likely Benign
View X 152853901 152853901 G > A CCNQ ENST00000406277.2:c.663C>T
ENSP00000384396.2:p.Asp221=
5/8685 0.0004 4 synonymous Likely Benign
View X 152959059 152959059 G > A SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1141+18G>A
NM_001142805.1:c.1111+18G>A
NM_001142806.1:c.796+18G>A
57/10482 0.00382 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View X 152960155 152960155 G > A SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1597-19G>A
NM_001142805.1:c.1567-19G>A
NM_001142806.1:c.1252-19G>A
10/10482 0.00052 4 three_prime_flank Likely Benign
View X 152960571 152960571 T > A SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.1810T>A
NM_001142805.1:c.1780T>A
NM_001142806.1:c.1465T>A
NP_005620.1:p.Leu604Met
NP_001136277.1:p.Leu594Met
NP_001136278.1:p.Leu489Met
7/10521 0.00043 4 non_synonymous Likely Benign
View X 152991478 152991478 C > G ABCD1 NM_000033.3:c.757C>G
NP_000024.2:p.Leu253Val
19/10521 0.00105 4 Likely Benign
View X 153129490 153129491 - > C L1CAM L1CAM L1CAM L1CAM NM_001143963.2:c.3308-19dupG
NM_001278116.1:c.3323-19dupG
NM_000425.4:c.3323-19dupG
NM_024003.3:c.3323-19dupG
12/10482 0.00076 4 three_prime_flank Likely Benign
View X 153171700 153171700 G > A AVPR2 AVPR2 AVPR2 NM_000054.4:c.740G>A
NM_001146151.1:c.740G>A
NR_027419.1:n.787G>A
NP_000045.1:p.Arg247His
NP_001139623.1:p.Arg247His
7/8685 0.00063 4 non_synonymous Likely Benign
View X 153218211 153218211 C > T HCFC1 NM_005334.2:c.4696G>A
NP_005325.2:p.Val1566Met
3/8685 0.00023 4 non_synonymous Likely Benign
Displaying 2,650 through 2,700 of 2,719 variants