CECR1 (NM_001282225.1) sequence variants
(ADA2, ADGF, IDGFL)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for CECR1 : 41

HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
5 flankingc.-10646_-46-4514delp?
 2017-04-27
5 flankingc.-2484delGp?
 2017-04-27
exon 2c.2T>Cp.Met1Thr
 2014-02-25
exon 2c.73G>Tp.Gly25Cys
 2014-06-13
exon 2c.139G>Ap.Gly47Arg
 2014-02-25
exon 2c.139G>Tp.Gly47Trp
 2015-09-17
exon 2c.140G>Cp.Gly47Ala
 2014-02-25
exon 2c.140G>Tp.Gly47Val
 2014-02-26
exon 2c.144delGp.Arg49Glyfs*4
 2014-09-24
exon 2c.145C>Tp.Arg49Trp
 2017-01-15
exon 2c.159C>Tp.(=)
 2014-03-11
exon 2c.163_165delp.Lys55del
 2017-04-27
exon 2c.278T>Cp.Ile93Thr
 2014-02-25
exon 3c.326C>Ap.Ala109Asp
 2014-02-25
exon 3c.336C>Gp.His112Gln
 2014-02-25
exon 3c.424G>Ap.Gly142Ser
 2017-04-27
exon 3c.506G>Ap.Arg169Gln
 2014-02-25
exon 4c.578C >Tp.Pro193Leu
 2014-10-06
exon 4c.728T>Gp.Met243Arg
 2017-04-27
exon 4c.740C>Tp.Ala247Val
 2017-01-15
exon 4c.752C>Tp.Pro251Leu
 2014-02-26
exon 5c.791G>Cp.Trp264Ser
 2014-02-26
exon 6c.916C>Tp.Arg306*
 2014-04-18
exon 6c.927G>Ap.Met309Ile
 2017-01-15
intron 6c.973-69C->Gp.-
 2017-12-14
intron 6c.973-2A>Gp.(?)
 2015-07-14
exon 7c.973-?_1081+?delp.Val325Thrfs*7
 2014-09-24
exon 7c.982G>Ap.Glu328Lys
 2017-04-27
exon 7c.1004A>Gp.His335Arg
 2014-09-24
exon 7c.1045G>Ap.Val349Ile
 2017-06-24
exon 7c.1065C>Ap.Phe355Leu
 2017-04-27
exon 7c.1078A>Gp.Thr360Ala
 2014-08-01
intron 7c.1081+30C->Ap.-
 2017-12-14
exon 8c.1110C>Ap.Asn370Lys
 2017-04-27
exon 8c.1147G>Ap.Gly383Ser
 2014-08-01
exon 8c.1223G>Ap.Cys408Tyr
 2017-08-25
intron 8c.1240-5C>G-
 2014-09-24
exon 9c.1358A>Gp.Tyr453Cys
 2014-02-25
exon 9c.1359T>Cp.(=)
 2014-09-24
intron 9c.1442+11T>C-
 2014-09-24
intron 9c.1442+31G>A-
 2014-09-24