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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 153296119 153296119 G > A MECP2 MECP2 NM_001110792.1:c.1196C>T
NM_004992.3:c.1160C>T
NP_001104262.1:p.Pro399Leu
NP_004983.1:p.Pro387Leu
6/8745 0.00057 4 non_synonymous Likely Benign
View X 153296689 153296689 G > A MECP2 MECP2 NM_001110792.1:c.626C>T
NM_004992.3:c.590C>T
NP_001104262.1:p.Thr209Met
NP_004983.1:p.Thr197Met
6/8745 0.00051 4 Likely Benign
View X 153296918 153296918 A > - MECP2 MECP2 NM_001110792.1:c.414-17del
NM_004992.3:c.378-17del
94/8706 0.00724 4 three_prime_flank Likely Benign
View X 153578465 153578465 G > A FLNA FLNA NM_001456.3:c.7243C>T
NM_001110556.1:c.7267C>T
NP_001447.2:p.Pro2415Ser
NP_001104026.1:p.Pro2423Ser
4/6955 0.00043 4 non_synonymous Likely Benign
View X 153581582 153581582 G > C FLNA FLNA NM_001456.3:c.5999-10C>G
NM_001110556.1:c.6023-10C>G
9/6955 0.00086 4 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Likely Benign
View X 153581714 153581714 G > A FLNA FLNA NM_001456.3:c.5948C>T
NM_001110556.1:c.5972C>T
NP_001447.2:p.Ser1983Leu
NP_001104026.1:p.Ser1991Leu
34/6956 0.00345 4 non_synonymous Likely Benign
View X 153588784 153588784 C > T FLNA FLNA NM_001456.3:c.3379G>A
NM_001110556.1:c.3379G>A
NP_001447.2:p.Val1127Met
NP_001104026.1:p.Val1127Met
2/6955 0.00022 4 non_synonymous Likely Benign
View X 153590902 153590902 G > A FLNA FLNA NM_001456.3:c.2449C>T
NM_001110556.1:c.2449C>T
NP_001447.2:p.Pro817Ser
NP_001104026.1:p.Pro817Ser
12/6955 0.00122 4 non_synonymous Likely Benign
View X 153593204 153593204 C > T FLNA FLNA NM_001456.3:c.1813G>A
NM_001110556.1:c.1813G>A
NP_001447.2:p.Asp605Asn
NP_001104026.1:p.Asp605Asn
5/6955 0.0005 4 non_synonymous Likely Benign
View X 153593616 153593616 G > A FLNA FLNA NM_001456.3:c.1579C>T
NM_001110556.1:c.1579C>T
NP_001447.2:p.Arg527Cys
NP_001104026.1:p.Arg527Cys
5/6955 0.0005 4 non_synonymous Likely Benign
View X 153593845 153593845 G > A FLNA FLNA NM_001456.3:c.1439C>T
NM_001110556.1:c.1439C>T
NP_001447.2:p.Pro480Leu
NP_001104026.1:p.Pro480Leu
3/6955 0.00029 4 non_synonymous Likely Benign
View X 153666858 153666858 C > A GDI1 NM_001493.2:c.46-11C>A
8/8706 0.00057 4 polypyrimidine_tract Likely Benign
View X 153991099 153991099 C > G DKC1 ENST00000369550.5:c.-142C>G
40/8706 0.00339 4 Likely Benign
View X 154508542 154508542 G > C CLIC2 NM_001289.4:c.478C>G
NP_001280.3:p.Pro160Ala
18/6955 0.00187 4 non_synonymous Likely Benign
View X 154563670 154563670 G > A CLIC2 NM_001289.4:c.57+10C>T
50/6955 0.00503 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
Displaying 2,450 through 2,465 of 2,465 variants