or
or
Exact

Results for "Schaaf2011"

Variant Events: 104

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CACNA1C     Schaaf2011:2chr12:
2566833-2566833		CTexonicUnknownnonsynonymous SNVNM_000719
NM_001129827
NM_001129829
NM_001129830
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_199460		c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T
c.C718T		p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C
p.R240C		19.41-Schaaf2011 T
CACNA1C     Schaaf2011:3chr12:
2595423-2595423		TCexonicUnknownnonsynonymous SNVNM_000719
NM_001129827
NM_001129829
NM_001129830
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_199460		c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C
c.T911C		p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T
p.I304T		3.0615.0E-4Schaaf2011 T
ARX     Schaaf2011:1chrX:
25031445-25031445		TGexonicUnknownnonsynonymous SNVNM_139058c.A667Cp.T223P5.873-Schaaf2011 T
CACNA1C     Schaaf2011:6chr12:
2694639-2694639		GAexonicUnknownnonsynonymous SNVNM_000719
NM_001129827
NM_001129829
NM_001129830
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_199460		c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2428A
c.G2437A
c.G2437A
c.G2437A
c.G2437A
c.G2437A		p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R
p.G810R
p.G813R
p.G813R
p.G813R
p.G813R
p.G813R		18.583.074E-5Schaaf2011 T
CACNA1C     Schaaf2011:7chr12:
2694651-2694651		CTexonicUnknownnonsynonymous SNVNM_000719
NM_001129827
NM_001129829
NM_001129830
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_199460		c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2440T
c.C2449T
c.C2449T
c.C2449T
c.C2449T
c.C2449T		p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S
p.P814S
p.P817S
p.P817S
p.P817S
p.P817S
p.P817S		16.450.0035Schaaf2011 T
CACNA1C     Schaaf2011:4chr12:
2614069-2614069		GTexonicUnknownnonsynonymous SNVNM_000719
NM_001129827
NM_001129829
NM_001129830
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_199460		c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1175T
c.G1166T
c.G1175T
c.G1175T		p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G392V
p.G389V
p.G392V
p.G392V		23.38.63E-6Schaaf2011 T
CACNA1C     Schaaf2011:5chr12:
2659186-2659186		GAexonicUnknownnonsynonymous SNVNM_000719
NM_001129827
NM_001129829
NM_001129830
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_199460		c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1459A
c.G1468A
c.G1468A
c.G1468A
c.G1468A
c.G1468A		p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R
p.G487R
p.G490R
p.G490R
p.G490R
p.G490R
p.G490R		20.48.0E-4Schaaf2011 T
CACNA1C     Schaaf2011:10chr12:
2786373-2786373		GAexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_001167625
NM_000719
NM_001129829
NM_001129830
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167624
NM_001129831
NM_001129832
NM_001129827
NM_199460		c.G4966A
c.G4966A
c.G4960A
c.G4909A
c.G4909A
c.G4942A
c.G5065A
c.G4942A
c.G4999A
c.G4999A
c.G4999A
c.G4993A
c.G4942A
c.G4942A
c.G4942A
c.G4942A
c.G4933A
c.G4942A
c.G4942A
c.G5026A
c.G5002A
c.G5086A
c.G5086A		p.A1656T
p.A1656T
p.A1654T
p.A1637T
p.A1637T
p.A1648T
p.A1689T
p.A1648T
p.A1667T
p.A1667T
p.A1667T
p.A1665T
p.A1648T
p.A1648T
p.A1648T
p.A1648T
p.A1645T
p.A1648T
p.A1648T
p.A1676T
p.A1668T
p.A1696T
p.A1696T		14.168.678E-5Schaaf2011 T
CACNA1C     Schaaf2011:11chr12:
2788616-2788616		GAexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_001167625
NM_000719
NM_001129829
NM_001129830
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167624
NM_001129831
NM_001129832
NM_001129827
NM_199460		c.G5122A
c.G5122A
c.G5116A
c.G5065A
c.G5065A
c.G5098A
c.G5221A
c.G5098A
c.G5155A
c.G5155A
c.G5155A
c.G5149A
c.G5098A
c.G5098A
c.G5098A
c.G5098A
c.G5089A
c.G5098A
c.G5098A
c.G5182A
c.G5158A
c.G5242A
c.G5242A		p.G1708S
p.G1708S
p.G1706S
p.G1689S
p.G1689S
p.G1700S
p.G1741S
p.G1700S
p.G1719S
p.G1719S
p.G1719S
p.G1717S
p.G1700S
p.G1700S
p.G1700S
p.G1700S
p.G1697S
p.G1700S
p.G1700S
p.G1728S
p.G1720S
p.G1748S
p.G1748S		23.83.0E-4Schaaf2011 T
CACNA1C     Schaaf2011:8chr12:
2706409-2706409		TGexonicUnknownnonsynonymous SNVNM_000719
NM_001129827
NM_001129829
NM_001129831
NM_001129832
NM_001129833
NM_001129834
NM_001129837
NM_001129839
NM_001129842
NM_001129844
NM_001167623
NM_001167624
NM_001167625
NM_199460		c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2807G
c.T2798G
c.T2807G
c.T2807G
c.T2807G
c.T2807G		p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F936C
p.F933C
p.F936C
p.F936C
p.F936C
p.F936C		17.54-Schaaf2011 T
CACNA1C     Schaaf2011:9chr12:
2719827-2719827		GAexonicUnknownnonsynonymous SNVNM_000719
NM_001129829
NM_001129830
NM_001129831
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_001129827
NM_001129832
NM_199460		c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3670A
c.G3679A
c.G3679A
c.G3679A
c.G3679A
c.G3739A
c.G3739A
c.G3739A		p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1224I
p.V1227I
p.V1227I
p.V1227I
p.V1227I
p.V1247I
p.V1247I
p.V1247I		14.062.479E-5Schaaf2011 T
CACNA1C     Schaaf2011:14chr12:
2788901-2788901		GAexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_001167625
NM_000719
NM_001129829
NM_001129830
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167624
NM_001129831
NM_001129832
NM_001129827
NM_199460		c.G5407A
c.G5407A
c.G5401A
c.G5350A
c.G5350A
c.G5383A
c.G5506A
c.G5383A
c.G5440A
c.G5440A
c.G5440A
c.G5434A
c.G5383A
c.G5383A
c.G5383A
c.G5383A
c.G5374A
c.G5383A
c.G5383A
c.G5467A
c.G5443A
c.G5527A
c.G5527A		p.G1803R
p.G1803R
p.G1801R
p.G1784R
p.G1784R
p.G1795R
p.G1836R
p.G1795R
p.G1814R
p.G1814R
p.G1814R
p.G1812R
p.G1795R
p.G1795R
p.G1795R
p.G1795R
p.G1792R
p.G1795R
p.G1795R
p.G1823R
p.G1815R
p.G1843R
p.G1843R		11.110.0057Schaaf2011 T
CACNA1C     Schaaf2011:15chr12:
2791829-2791829		TCexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460		c.T5582C
c.T5582C
c.T5576C
c.T5525C
c.T5558C
c.T5681C
c.T5615C
c.T5615C
c.T5615C
c.T5609C
c.T5558C
c.T5558C
c.T5558C
c.T5558C
c.T5549C
c.T5558C
c.T5738C
c.T5663C
c.T5642C
c.T5618C
c.T5663C
c.T5702C
c.T5807C		p.L1861P
p.L1861P
p.L1859P
p.L1842P
p.L1853P
p.L1894P
p.L1872P
p.L1872P
p.L1872P
p.L1870P
p.L1853P
p.L1853P
p.L1853P
p.L1853P
p.L1850P
p.L1853P
p.L1913P
p.L1888P
p.L1881P
p.L1873P
p.L1888P
p.L1901P
p.L1936P		17.15-Schaaf2011 T
CACNA1C     Schaaf2011:12chr12:
2788667-2788667		GAexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_001167625
NM_000719
NM_001129829
NM_001129830
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167624
NM_001129831
NM_001129832
NM_001129827
NM_199460		c.G5173A
c.G5173A
c.G5167A
c.G5116A
c.G5116A
c.G5149A
c.G5272A
c.G5149A
c.G5206A
c.G5206A
c.G5206A
c.G5200A
c.G5149A
c.G5149A
c.G5149A
c.G5149A
c.G5140A
c.G5149A
c.G5149A
c.G5233A
c.G5209A
c.G5293A
c.G5293A		p.A1725T
p.A1725T
p.A1723T
p.A1706T
p.A1706T
p.A1717T
p.A1758T
p.A1717T
p.A1736T
p.A1736T
p.A1736T
p.A1734T
p.A1717T
p.A1717T
p.A1717T
p.A1717T
p.A1714T
p.A1717T
p.A1717T
p.A1745T
p.A1737T
p.A1765T
p.A1765T		14.382.0E-4Schaaf2011 T
CACNA1C     Schaaf2011:13chr12:
2788865-2788865		GAexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_001167625
NM_000719
NM_001129829
NM_001129830
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167624
NM_001129831
NM_001129832
NM_001129827
NM_199460		c.G5371A
c.G5371A
c.G5365A
c.G5314A
c.G5314A
c.G5347A
c.G5470A
c.G5347A
c.G5404A
c.G5404A
c.G5404A
c.G5398A
c.G5347A
c.G5347A
c.G5347A
c.G5347A
c.G5338A
c.G5347A
c.G5347A
c.G5431A
c.G5407A
c.G5491A
c.G5491A		p.G1791S
p.G1791S
p.G1789S
p.G1772S
p.G1772S
p.G1783S
p.G1824S
p.G1783S
p.G1802S
p.G1802S
p.G1802S
p.G1800S
p.G1783S
p.G1783S
p.G1783S
p.G1783S
p.G1780S
p.G1783S
p.G1783S
p.G1811S
p.G1803S
p.G1831S
p.G1831S		5.1399.177E-6Schaaf2011 T
CACNA1C     Schaaf2011:18chr12:
2797785-2797785		GAexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460		c.G5981A
c.G5981A
c.G5975A
c.G5924A
c.G5957A
c.G6080A
c.G6014A
c.G6014A
c.G6014A
c.G6008A
c.G5957A
c.G5957A
c.G5957A
c.G5957A
c.G5948A
c.G5957A
c.G6137A
c.G6062A
c.G6041A
c.G6017A
c.G6062A
c.G6101A
c.G6206A		p.S1994N
p.S1994N
p.S1992N
p.S1975N
p.S1986N
p.S2027N
p.S2005N
p.S2005N
p.S2005N
p.S2003N
p.S1986N
p.S1986N
p.S1986N
p.S1986N
p.S1983N
p.S1986N
p.S2046N
p.S2021N
p.S2014N
p.S2006N
p.S2021N
p.S2034N
p.S2069N		28.78.334E-6Schaaf2011 T
CACNA1C     Schaaf2011:19chr12:
2797868-2797868		GAexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460		c.G6064A
c.G6064A
c.G6058A
c.G6007A
c.G6040A
c.G6163A
c.G6097A
c.G6097A
c.G6097A
c.G6091A
c.G6040A
c.G6040A
c.G6040A
c.G6040A
c.G6031A
c.G6040A
c.G6220A
c.G6145A
c.G6124A
c.G6100A
c.G6145A
c.G6184A
c.G6289A		p.V2022I
p.V2022I
p.V2020I
p.V2003I
p.V2014I
p.V2055I
p.V2033I
p.V2033I
p.V2033I
p.V2031I
p.V2014I
p.V2014I
p.V2014I
p.V2014I
p.V2011I
p.V2014I
p.V2074I
p.V2049I
p.V2042I
p.V2034I
p.V2049I
p.V2062I
p.V2097I		12.264.0E-4Schaaf2011 T
CACNA1C     Schaaf2011:16chr12:
2794993-2794993		CTexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460		c.C5689T
c.C5689T
c.C5683T
c.C5632T
c.C5665T
c.C5788T
c.C5722T
c.C5722T
c.C5722T
c.C5716T
c.C5665T
c.C5665T
c.C5665T
c.C5665T
c.C5656T
c.C5665T
c.C5845T
c.C5770T
c.C5749T
c.C5725T
c.C5770T
c.C5809T
c.C5914T		p.R1897C
p.R1897C
p.R1895C
p.R1878C
p.R1889C
p.R1930C
p.R1908C
p.R1908C
p.R1908C
p.R1906C
p.R1889C
p.R1889C
p.R1889C
p.R1889C
p.R1886C
p.R1889C
p.R1949C
p.R1924C
p.R1917C
p.R1909C
p.R1924C
p.R1937C
p.R1972C		8.7080.0075Schaaf2011 T
CACNA1C     Schaaf2011:17chr12:
2797697-2797697		GCexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460		c.G5893C
c.G5893C
c.G5887C
c.G5836C
c.G5869C
c.G5992C
c.G5926C
c.G5926C
c.G5926C
c.G5920C
c.G5869C
c.G5869C
c.G5869C
c.G5869C
c.G5860C
c.G5869C
c.G6049C
c.G5974C
c.G5953C
c.G5929C
c.G5974C
c.G6013C
c.G6118C		p.A1965P
p.A1965P
p.A1963P
p.A1946P
p.A1957P
p.A1998P
p.A1976P
p.A1976P
p.A1976P
p.A1974P
p.A1957P
p.A1957P
p.A1957P
p.A1957P
p.A1954P
p.A1957P
p.A2017P
p.A1992P
p.A1985P
p.A1977P
p.A1992P
p.A2005P
p.A2040P		16.04-Schaaf2011 T
CDKL5     Schaaf2011:22chrX:
18671608-18671608		GAexonicUnknownnonsynonymous SNVNM_003159
NM_001037343		c.G3037A
c.G3037A		p.V1013I
p.V1013I		10.941.192E-5Schaaf2011 T
EML1     Schaaf2011:23chr14:
100375794-100375794		AGexonicUnknownnonsynonymous SNVNM_004434
NM_001008707		c.A1217G
c.A1274G		p.N406S
p.N425S		4.2173.295E-5Schaaf2011 T
CACNA1C     Schaaf2011:20chr12:
2797944-2797944		CGexonicUnknownnonsynonymous SNVNM_001129837
NM_001129838
NM_001129839
NM_001129846
NM_000719
NM_001129829
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001167623
NM_001167625
NM_001129830
NM_001129831
NM_001129832
NM_001167624
NM_001129827
NM_199460		c.C6140G
c.C6140G
c.C6134G
c.C6083G
c.C6116G
c.C6239G
c.C6173G
c.C6173G
c.C6173G
c.C6167G
c.C6116G
c.C6116G
c.C6116G
c.C6116G
c.C6107G
c.C6116G
c.C6296G
c.C6221G
c.C6200G
c.C6176G
c.C6221G
c.C6260G
c.C6365G		p.A2047G
p.A2047G
p.A2045G
p.A2028G
p.A2039G
p.A2080G
p.A2058G
p.A2058G
p.A2058G
p.A2056G
p.A2039G
p.A2039G
p.A2039G
p.A2039G
p.A2036G
p.A2039G
p.A2099G
p.A2074G
p.A2067G
p.A2059G
p.A2074G
p.A2087G
p.A2122G		32.08.846E-5Schaaf2011 T
CDKL5     Schaaf2011:21chrX:
18616706-18616706		AGexonicUnknownnonsynonymous SNVNM_003159
NM_001037343		c.A950G
c.A950G		p.H317R
p.H317R		17.442.281E-5Schaaf2011 T
FOXP2     Schaaf2011:26chr7:
114304425-114304425		AGexonicUnknownnonsynonymous SNVNM_001172766
NM_014491
NM_148898
NM_148900		c.A1934G
c.A1937G
c.A2012G
c.A1988G		p.N645S
p.N646S
p.N671S
p.N663S		14.592.0E-4Schaaf2011 T
FOXP2     Schaaf2011:27chr7:
114329917-114329917		ACexonicDe novononsynonymous SNVNM_001172766
NM_014491
NM_148898
NM_148900		c.A2081C
c.A2084C
c.A2159C
c.A2135C		p.H694P
p.H695P
p.H720P
p.H712P		13.36-Schaaf2011 T
EML1     Schaaf2011:24chr14:
100380564-100380564		GAexonicUnknownnonsynonymous SNVNM_004434
NM_001008707		c.G1543A
c.G1600A		p.D515N
p.D534N		15.323.0E-4Schaaf2011 T
FOXP2     Schaaf2011:25chr7:
114294044-114294044		CAexonicUnknownnonsynonymous SNVNM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900		c.C1246A
c.C1243A
c.C1321A
c.C1246A
c.C1321A
c.C1297A		p.P416T
p.P415T
p.P441T
p.P416T
p.P441T
p.P433T		17.18.242E-6Schaaf2011 T
GRID2     Schaaf2011:30chr4:
94547444-94547444		GAexonicUnknownnonsynonymous SNVNM_001286838
NM_001510		c.G1933A
c.G2218A		p.V645I
p.V740I		15.540.0011Schaaf2011 T
HOXA1     Schaaf2011:31chr7:
27135147-27135147		CAexonicUnknownnonsynonymous SNVNM_005522c.G385Tp.A129S8.9934.943E-5Schaaf2011 T
FOXP2     Schaaf2011:28chr7:
114329933-114329933		ATexonicUnknownnonsynonymous SNVNM_001172766
NM_014491
NM_148898
NM_148900		c.A2097T
c.A2100T
c.A2175T
c.A2151T		p.E699D
p.E700D
p.E725D
p.E717D		2.8476.611E-5Schaaf2011 T
GRID2     Schaaf2011:29chr4:
94344049-94344049		CTexonicUnknownnonsynonymous SNVNM_001286838
NM_001510		c.C1190T
c.C1475T		p.P397L
p.P492L		31.0-Schaaf2011 T
MAPK3     Schaaf2011:34chr16:
30128063-30128063		GAexonicUnknownnonsynonymous SNVNM_001109891
NM_002746		c.C934T
c.C1066T		p.P312S
p.P356S		13.891.659E-5Schaaf2011 T
MAPK3     Schaaf2011:35chr16:
30133167-30133167		TGexonicUnknownnonsynonymous SNVNM_001040056
NM_001109891
NM_002746		c.A331C
c.A331C
c.A331C		p.T111P
p.T111P
p.T111P		18.71-Schaaf2011 T
HOXA1     Schaaf2011:32chr7:
27135297-27135297		TCexonicUnknownnonsynonymous SNVNM_005522
NM_153620		c.A235G
c.A235G		p.T79A
p.T79A		10.061.65E-5Schaaf2011 T
HOXA1     Schaaf2011:33chr7:
27135349-27135349		GCexonicDe novononsynonymous SNVNM_005522
NM_153620		c.C183G
c.C183G		p.I61M
p.I61M		4.0021.667E-5Schaaf2011 T
PTEN     Schaaf2011:38chr10:
89712000-89712000		CGexonicUnknownnonsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.C618G
c.C27G
c.C1137G		p.F206L
p.F9L
p.F379L		16.87-Schaaf2011 T
SHANK3     Schaaf2011:39chr22:
51143462-51143462		GAexonicUnknownnonsynonymous SNVNM_033517c.G1925Ap.R642H11.743.318E-5Schaaf2011 T
MECP2     Schaaf2011:36chrX:
153296674-153296674		GCexonicUnknownnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C641G
c.C605G
c.C326G		p.A214G
p.A202G
p.A109G		10.08-Schaaf2011 T
PTEN     Schaaf2011:37chr10:
89690825-89690825		AGexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A232G
c.A751G		p.T78A
p.T251A		12.12-Schaaf2011 T
SHANK3     Schaaf2011:42chr22:
51160154-51160154		GAexonicUnknownnonsynonymous SNVNM_033517c.G3851Ap.R1284K13.68.0E-4Schaaf2011 T
SHANK3     Schaaf2011:43chr22:
51160231-51160231		GAexonicUnknownnonsynonymous SNVNM_033517c.G3928Ap.A1310T0.2181.0E-4Schaaf2011 T
SHANK3     Schaaf2011:40chr22:
51159884-51159884		GAexonicUnknownnonsynonymous SNVNM_033517c.G3581Ap.G1194D18.77-Schaaf2011 T
SHANK3     Schaaf2011:41chr22:
51160018-51160018		ATexonicUnknownnonsynonymous SNVNM_033517c.A3715Tp.S1239C10.13-Schaaf2011 T
SHANK3     Schaaf2011:46chr22:
51160493-51160493		CTexonicUnknownnonsynonymous SNVNM_033517c.C4190Tp.P1397L20.9-Schaaf2011 T
SHANK3     Schaaf2011:47chr22:
51160540-51160540		GAexonicUnknownnonsynonymous SNVNM_033517c.G4237Ap.V1413M19.4-Schaaf2011 T
SHANK3     Schaaf2011:44chr22:
51160259-51160259		TGexonicUnknownnonsynonymous SNVNM_033517c.T3956Gp.V1319G4.6418.0E-4Schaaf2011 T
SHANK3     Schaaf2011:45chr22:
51160394-51160394		CTexonicUnknownnonsynonymous SNVNM_033517c.C4091Tp.T1364M19.53-Schaaf2011 T
SHANK3     Schaaf2011:50chr22:
51169259-51169259		CTexonicUnknownnonsynonymous SNVNM_033517c.C4673Tp.A1558V12.15-Schaaf2011 T
SHANK3     Schaaf2011:51chr22:
51169364-51169364		CTexonicUnknownnonsynonymous SNVNM_033517c.C4778Tp.T1593I14.6-Schaaf2011 T
SHANK3     Schaaf2011:48chr22:
51169207-51169207		CTexonicUnknownnonsynonymous SNVNM_033517c.C4621Tp.P1541S15.68-Schaaf2011 T
SHANK3     Schaaf2011:49chr22:
51169241-51169241		GTexonicUnknownnonsynonymous SNVNM_033517c.G4655Tp.S1552I16.49-Schaaf2011 T
SHANK3     Schaaf2011:54chr22:
51169463-51169463		CTexonicUnknownnonsynonymous SNVNM_033517c.C4877Tp.S1626L9.874-Schaaf2011 T
SHANK3     Schaaf2011:55chr22:
51169480-51169480		GAexonicUnknownnonsynonymous SNVNM_033517c.G4894Ap.A1632T0.763-Schaaf2011 T
SHANK3     Schaaf2011:52chr22:
51169442-51169442		GAexonicUnknownnonsynonymous SNVNM_033517c.G4856Ap.R1619H13.87-Schaaf2011 T
SHANK3     Schaaf2011:53chr22:
51169459-51169459		CTexonicUnknownnonsynonymous SNVNM_033517c.C4873Tp.P1625S12.58-Schaaf2011 T
SHANK3     Schaaf2011:58chr22:
51169508-51169508		GAexonicUnknownnonsynonymous SNVNM_033517c.G4922Ap.G1641D16.35-Schaaf2011 T
TSC1     Schaaf2011:59chr9:
135771918-135771918		TGexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.A3046C
c.A3199C
c.A3196C		p.M1016L
p.M1067L
p.M1066L		0.006-Schaaf2011 T
SHANK3     Schaaf2011:56chr22:
51169499-51169499		GAexonicUnknownnonsynonymous SNVNM_033517c.G4913Ap.G1638D10.65-Schaaf2011 T
SHANK3     Schaaf2011:57chr22:
51169504-51169504		CAexonicUnknownnonsynonymous SNVNM_033517c.C4918Ap.P1640T14.470.0013Schaaf2011 T
TSC1     Schaaf2011:62chr9:
135779052-135779052		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C2041T
c.C2194T
c.C2191T		p.H681Y
p.H732Y
p.H731Y		27.40.0039Schaaf2011 T
TSC1     Schaaf2011:63chr9:
135781205-135781205		TCexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.A1607G
c.A1760G
c.A1757G		p.K536R
p.K587R
p.K586R		14.850.0188Schaaf2011 T
TSC1     Schaaf2011:60chr9:
135772014-135772014		CTexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.G2950A
c.G3103A
c.G3100A		p.G984S
p.G1035S
p.G1034S		10.570.0014Schaaf2011 T
TSC1     Schaaf2011:61chr9:
135778098-135778098		TCexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.A2132G
c.A2285G
c.A2282G		p.N711S
p.N762S
p.N761S		6.8134.0E-4Schaaf2011 T
TSC1     Schaaf2011:66chr9:
135786013-135786013		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C1055T
c.C1208T
c.C1205T		p.S352L
p.S403L
p.S402L		15.214.0E-4Schaaf2011 T
TSC1     Schaaf2011:67chr9:
135786451-135786451		GTexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C926A
c.C1079A
c.C1079A		p.T309N
p.T360N
p.T360N		22.26.0E-4Schaaf2011 T
TSC1     Schaaf2011:64chr9:
135781287-135781287		CTexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.G1525A
c.G1678A
c.G1675A		p.G509S
p.G560S
p.G559S		15.288.248E-6Schaaf2011 T
TSC1     Schaaf2011:65chr9:
135782214-135782214		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C1189T
c.C1342T
c.C1339T		p.P397S
p.P448S
p.P447S		1.530.001Schaaf2011 T
TSC1     Schaaf2011:70chr9:
135800991-135800991		ACexonicUnknownnonsynonymous SNVNM_000368
NM_001162426		c.T346G
c.T346G		p.L116V
p.L116V		18.043.0E-4Schaaf2011 T
TSC2     Schaaf2011:71chr16:
2098633-2098633		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G17A
c.G17A
c.G17A		p.S6N
p.S6N
p.S6N		21.33.319E-5Schaaf2011 T
TSC1     Schaaf2011:68chr9:
135786863-135786863		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C853T
c.C1006T
c.C1006T		p.R285W
p.R336W
p.R336W		15.595.766E-5Schaaf2011 T
TSC1     Schaaf2011:69chr9:
135786868-135786868		GAexonicUnknownnonsynonymous SNVNM_001162427
NM_000368
NM_001162426		c.C848T
c.C1001T
c.C1001T		p.S283L
p.S334L
p.S334L		13.495.0E-4Schaaf2011 T
TSC2     Schaaf2011:74chr16:
2103392-2103392		ATexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A275T
c.A275T
c.A275T		p.E92V
p.E92V
p.E92V		19.370.0019Schaaf2011 T
TSC2     Schaaf2011:75chr16:
2103406-2103406		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G289A
c.G289A
c.G289A		p.A97T
p.A97T
p.A97T		28.7-Schaaf2011 T
TSC2     Schaaf2011:72chr16:
2100410-2100410		AGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A148G
c.A148G
c.A148G		p.M50V
p.M50V
p.M50V		-4.979E-5Schaaf2011 T
TSC2     Schaaf2011:73chr16:
2100452-2100452		AGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A190G
c.A190G
c.A190G		p.I64V
p.I64V
p.I64V		11.48-Schaaf2011 T
TSC2     Schaaf2011:78chr16:
2115529-2115529		CTexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1609T
c.C1609T
c.C1609T		p.R537C
p.R537C
p.R537C		17.212.0E-4Schaaf2011 T
TSC2     Schaaf2011:79chr16:
2120556-2120556		AGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A1816G
c.A1816G
c.A1816G		p.I606V
p.I606V
p.I606V		8.9523.336E-5Schaaf2011 T
TSC2     Schaaf2011:76chr16:
2112989-2112989		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G1378A
c.G1378A
c.G1378A		p.A460T
p.A460T
p.A460T		15.920.0024Schaaf2011 T
TSC2     Schaaf2011:77chr16:
2114426-2114426		ACexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.A1597C
c.A1597C
c.A1597C		p.K533Q
p.K533Q
p.K533Q		20.2-Schaaf2011 T
TSC2     Schaaf2011:82chr16:
2126141-2126141		CGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C2712G
c.C2712G
c.C2712G		p.F904L
p.F904L
p.F904L		15.146.65E-5Schaaf2011 T
TSC2     Schaaf2011:83chr16:
2127711-2127711		GCexonicUnknownnonsynonymous SNVNM_000548
NM_001114382		c.G2950C
c.G2950C		p.E984Q
p.E984Q		26.4-Schaaf2011 T
TSC2     Schaaf2011:80chr16:
2121576-2121576		TGexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.T1905G
c.T1905G
c.T1905G		p.D635E
p.D635E
p.D635E		23.3-Schaaf2011 T
TSC2     Schaaf2011:81chr16:
2121870-2121870		GAexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G2032A
c.G2032A
c.G2032A		p.A678T
p.A678T
p.A678T		1.5260.0019Schaaf2011 T
TSC2     Schaaf2011:86chr16:
2134317-2134317		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C3893T
c.C4025T
c.C4094T		p.S1298L
p.S1342L
p.S1365L		12.41.0E-4Schaaf2011 T
TSC2     Schaaf2011:87chr16:
2134329-2134329		GAexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G3905A
c.G4037A
c.G4106A		p.R1302Q
p.R1346Q
p.R1369Q		10.438.635E-6Schaaf2011 T
TSC2     Schaaf2011:84chr16:
2129566-2129566		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.C3161T
c.C3293T
c.C3293T		p.P1054L
p.P1098L
p.P1098L		11.41.067E-5Schaaf2011 T
TSC2     Schaaf2011:85chr16:
2130190-2130190		CTexonicUnknownnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.C3290T
c.C3422T
c.C3422T		p.A1097V
p.A1141V
p.A1141V		11.410.0018Schaaf2011 T
UBE3A     Schaaf2011:90chr15:
25615823-25615823		TAexonicUnknownnonsynonymous SNVNM_130838
NM_130839
NM_000462		c.A1438T
c.A1498T
c.A1507T		p.S480C
p.S500C
p.S503C		19.65-Schaaf2011 T
UBE3A     Schaaf2011:91chr15:
25616729-25616729		CTexonicUnknownnonsynonymous SNVNM_130838
NM_130839
NM_000462		c.G532A
c.G592A
c.G601A		p.A178T
p.A198T
p.A201T		11.940.0123Schaaf2011 T
TSC2     Schaaf2011:88chr16:
2134496-2134496		GAexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.G4072A
c.G4204A
c.G4273A		p.G1358R
p.G1402R
p.G1425R		12.972.014E-5Schaaf2011 T
TSC2     Schaaf2011:89chr16:
2138074-2138074		CAexonicUnknownnonsynonymous SNVNM_001077183
NM_001114382
NM_000548		c.C4893A
c.C5025A
c.C5094A		p.S1631R
p.S1675R
p.S1698R		9.4494.0E-4Schaaf2011 T
HOXA1     Schaaf2011:94chr7:
27135337-27135340		GTGGGexonicDe novononframeshift deletionNM_005522
NM_153620		c.192_194del
c.192_194del		p.64_65del
p.64_65del		--Schaaf2011 T
HOXA1     Schaaf2011:95chr7:
27135338-27135338		TTTGGexonicUnknownnonframeshift insertionNM_005522
NM_153620		c.193_194insCCA
c.193_194insCCA		p.H65delinsPN
p.H65delinsPN		--Schaaf2011 T
UBE3A     Schaaf2011:92chr15:
25616810-25616810		TCexonicUnknownnonsynonymous SNVNM_130838
NM_130839
NM_000462		c.A451G
c.A511G
c.A520G		p.T151A
p.T171A
p.T174A		10.38-Schaaf2011 T
UBE3A     Schaaf2011:93chr15:
25620717-25620717		TGexonicUnknownnonsynonymous SNVNM_130838
NM_130839
NM_000462		c.A196C
c.A256C
c.A265C		p.K66Q
p.K86Q
p.K89Q		29.1-Schaaf2011 T
TSC1     Schaaf2011:98chr9:
135772007-135772007		CCCTGexonicUnknownnonframeshift insertionNM_001162427
NM_000368
NM_001162426		c.2956_2957insCAG
c.3109_3110insCAG
c.3106_3107insCAG		p.G986delinsAG
p.G1037delinsAG
p.G1036delinsAG		--Schaaf2011 T
UBE3A     Schaaf2011:99chr15:
25616750-25616756		CCTTTTCCexonicUnknownnonframeshift deletionNM_130838
NM_130839
NM_000462		c.505_510del
c.565_570del
c.574_579del		p.169_170del
p.189_190del
p.192_193del		--Schaaf2011 T
HOXA1     Schaaf2011:96chr7:
27135338-27135338		TTTGGTGGexonicUnknownnonframeshift insertionNM_005522
NM_153620		c.193_194insCCACCA
c.193_194insCCACCA		p.H65delinsPTN
p.H65delinsPTN		--Schaaf2011 T
HOXA1     Schaaf2011:97chr7:
27135337-27135342		GTGGGGGexonicUnknownframeshift deletionNM_005522
NM_153620		c.190_194del
c.190_194del		p.P64fs
p.P64fs		--Schaaf2011 T
HOXA1     Schaaf2011:102chr7:
27134097-27134098		CCCexonicUnknownframeshift deletionNM_005522c.969delGp.P323fs--Schaaf2011 T
FOXP2     Schaaf2011:103chr7:
114271605-114271605		AAAGCexonicDe novononframeshift insertionNM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900		c.620_621insAGC
c.617_618insAGC
c.695_696insAGC
c.620_621insAGC
c.695_696insAGC
c.671_672insAGC		p.Q207delinsQA
p.Q206delinsQA
p.Q232delinsQA
p.Q207delinsQA
p.Q232delinsQA
p.Q224delinsQA		--Schaaf2011 T
HOXA1     Schaaf2011:100chr7:
27135331-27135340		GTGGTGGTGGGexonicUnknownnonframeshift deletionNM_005522
NM_153620		c.192_200del
c.192_200del		p.64_67del
p.64_67del		--Schaaf2011 T
TSC2     Schaaf2011:101chr16:
2132466-2132475		AGCTGCCAAGAexonicDe novononframeshift deletionNM_000548c.3845_3853delp.1282_1285del--Schaaf2011 T
PTEN     Schaaf2011:104chr10:
89690798-89690803		TTTAGTTexonicUnknownframeshift deletionNM_000314
NM_001304717		c.210_210del
c.729_729del		p.L70fs
p.L243fs		--Schaaf2011 T
Source Variant Information

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Paper Information
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Authors
Technology
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Design
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Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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