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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 153216900 153216900 C > T HCFC1 NM_005334.2:c.5418G>A
NP_005325.2:p.Met1806Ile
11/5119 0.00117 5 non_synonymous Benign
View X 153220056 153220056 G > A HCFC1 NM_005334.2:c.3794C>T
NP_005325.2:p.Ser1265Leu
5/5119 0.00059 3 non_synonymous Benign
View X 153295949 153295949 C > T MECP2 MECP2 NM_001110792.1:c.1366G>A
NM_004992.3:c.1330G>A
NP_001104262.1:p.Ala456Thr
NP_004983.1:p.Ala444Thr
12/6913 0.00137 5 non_synonymous Benign
View X 153296283 153296283 G > A MECP2 MECP2 NM_001110792.1:c.1032C>T
NM_004992.3:c.996C>T
NM_001110792.1:c.1032C>T(p.=)
NM_004992.3:c.996C>T(p.=)
2/6913 0.00022 1 Benign
View X 153296677 153296677 G > A MECP2 MECP2 NM_001110792.1:c.638C>T
NM_004992.3:c.602C>T
NP_001104262.1:p.Ala213Val
NP_004983.1:p.Ala201Val
13/6913 0.00123 4 Benign
View X 153583007 153583007 C > T FLNA FLNA NM_001110556.1:c.5290G>A
NM_001456.3:c.5266G>A
NP_001104026.1:p.Ala1764Thr
NP_001447.2:p.Ala1756Thr
82/5119 0.01045 5 Benign
View X 153589848 153589848 G > A FLNA FLNA NM_001110556.1:c.3035C>T
NM_001456.3:c.3035C>T
NP_001104026.1:p.Ser1012Leu
NP_001447.2:p.Ser1012Leu
81/5119 0.01035 5 Benign
View X 153642450 153642450 T > C TAZ TAZ TAZ TAZ TAZ NM_181312.2:c.383T>C
NR_024048.1:n.780+546T>C
NM_181311.2:c.370+546T>C
NM_181313.2:c.370+546T>C
NM_000116.3:c.383T>C
NP_851829.1:p.Phe128Ser
NP_000107.1:p.Phe128Ser
47/6913 0.0047 5 Benign
View X 153780386 153780386 G > A IKBKG IKBKG IKBKG IKBKG NM_001099857.1:c.169G>A
NM_003639.3:c.169G>A
NM_001099856.2:c.373G>A
NM_001145255.1:c.169G>A
NP_001093327.1:p.Glu57Lys
NP_003630.1:p.Glu57Lys
NP_001093326.2:p.Glu125Lys
NP_001138727.1:p.Glu57Lys
17/6913 0.00159 5 Benign
View X 153997446 153997446 A > C DKC1 DKC1 NM_001142463.1:c.776A>C
NM_001363.3:c.776A>C
NP_001135935.1:p.His259Pro
NP_001354.1:p.His259Pro
5/6913 0.00051 3 non_synonymous Benign
Displaying 550 through 560 of 560 variants