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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 79979271 79979271 A > - BRWD3 ENST00000373275.4:c.1626del
ENSP00000362372.4:p.Phe542LeufsTer89
2/10521 0.00014 2 frameshift Likely pathogenic
View X 99661781 99661781 G > C PCDH19 PCDH19 PCDH19 NM_001105243.1:c.1815C>G
NM_001184880.1:c.1815C>G
NM_020766.2:c.1815C>G
NP_001098713.1:p.Tyr605Ter
NP_001171809.1:p.Tyr605Ter
NP_065817.2:p.Tyr605Ter
1/10521 5.0e-05 2 premature_stop Likely pathogenic
View X 103041590 103041590 C > T PLP1 PLP1 PLP1 NM_001128834.1:c.388C>T
NM_000533.3:c.388C>T
NM_199478.1:c.348+40C>T
NP_001122306.1:p.His130Tyr
NP_000524.3:p.His130Tyr
1/10521 0.0001 1 Likely pathogenic
View X 107829923 107829923 G > A COL4A5 COL4A5 NM_000495.4:c.1111G>A
NM_033380.2:c.1111G>A
NP_000486.1:p.Gly371Arg
NP_203699.1:p.Gly371Arg
1/10521 5.0e-05 1 non_synonymous Likely pathogenic
View X 107865078 107865078 G > A COL4A5 COL4A5 NM_000495.4:c.2723G>A
NM_033380.2:c.2723G>A
NP_000486.1:p.Gly908Glu
NP_203699.1:p.Gly908Glu
1/10521 0.0001 1 non_synonymous Likely pathogenic
View X 149767053 149767053 T > G MTM1 NM_000252.2:c.137-3T>G
1/10521 0.0001 1 Likely pathogenic
View X 152956998 152956998 G > A SLC6A8 SLC6A8 SLC6A8 NM_005629.3:c.634G>A
NM_001142805.1:c.634G>A
NM_001142806.1:c.289G>A
NP_005620.1:p.Glu212Lys
NP_001136277.1:p.Glu212Lys
NP_001136278.1:p.Glu97Lys
1/10521 0.0001 1 Likely pathogenic
Displaying 300 through 307 of 307 variants