Full data view for gene AMELX

Information The variants shown are described using the NM_001142.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-12-34A>C r.(=) p.(=) g.11312863A>C Copied from the Exome Variant Server AMELX_000001 44/10563 41/6728 3/3835 - - - - - - -
?/? c.54+65T>C r.(=) p.(=) g.11313027T>C Copied from the Exome Variant Server AMELX_000002 2703/3600 1658/2391 1045/1209 - - - - - - -
?/? c.55-49C>G r.(=) p.(=) g.11314850C>G Copied from the Exome Variant Server AMELX_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.78T>G r.(=) p.(=) g.11314922T>G Copied from the Exome Variant Server AMELX_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.103-151T>C r.(=) p.(=) g.11316205T>C Copied from the Exome Variant Server AMELX_000005 13/10563 12/6728 1/3835 - - - - - - -
?/? c.103-81A>G r.(=) p.(=) g.11316275A>G Copied from the Exome Variant Server AMELX_000006 44/10563 41/6728 3/3835 - - - - - - -
?/? c.103-40_103-39del r.(=) p.(=) g.11316316_11316317del Copied from the Exome Variant Server AMELX_000007 1/10205 1/6484 0/3721 - - - - - - -
?/? c.143C>T r.(?) p.(Pro48Leu) g.11316396C>T Copied from the Exome Variant Server AMELX_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.144G>A r.(=) p.(=) g.11316397G>A Copied from the Exome Variant Server AMELX_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.144+10C>T r.(=) p.(=) g.11316407C>T Copied from the Exome Variant Server AMELX_000010 6/10563 0/6728 6/3835 - - - - - - -
?/? c.144+57C>T r.(=) p.(=) g.11316454C>T Copied from the Exome Variant Server AMELX_000011 5/3600 1/2391 4/1209 - - - - - - -
?/? c.145-39C>T r.(=) p.(=) g.11316629C>T Copied from the Exome Variant Server AMELX_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.145-18_145-17del r.(=) p.(=) g.11316650_11316651del Copied from the Exome Variant Server AMELX_000013 2/10205 1/6484 1/3721 - - - - - - -
?/? c.149C>T r.(?) p.(Pro50Leu) g.11316672C>T Copied from the Exome Variant Server AMELX_000014 3/10563 0/6728 3/3835 - - - - - - -
?/? c.162C>T r.(=) p.(=) g.11316685C>T Copied from the Exome Variant Server AMELX_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.202G>A r.(?) p.(Val68Met) g.11316725G>A Copied from the Exome Variant Server AMELX_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.219C>T r.(=) p.(=) g.11316742C>T Copied from the Exome Variant Server AMELX_000017 2589/10563 1475/6728 1114/3835 - - - - - - -
?/? c.224C>A r.(?) p.(Pro75Gln) g.11316747C>A Copied from the Exome Variant Server AMELX_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.225G>T r.(=) p.(=) g.11316748G>T Copied from the Exome Variant Server AMELX_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.280G>A r.(?) p.(Val94Met) g.11316803G>A Copied from the Exome Variant Server AMELX_000020 2/10563 1/6728 1/3835 - - - - - - -
?/? c.307G>A r.(?) p.(Val103Ile) g.11316830G>A Copied from the Exome Variant Server AMELX_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.366C>T r.(=) p.(=) g.11316889C>T Copied from the Exome Variant Server AMELX_000022 15/10563 2/6728 13/3835 - - - - - - -
?/? c.436G>T r.(?) p.(Val146Leu) g.11316959G>T Copied from the Exome Variant Server AMELX_000023 54/10563 0/6728 54/3835 - - - - - - -
?/? c.457C>A r.(?) p.(Pro153Thr) g.11316980C>A Copied from the Exome Variant Server AMELX_000024 2/10563 2/6728 0/3835 - - - - - - -
?/? c.474G>A r.(=) p.(=) g.11316997G>A Copied from the Exome Variant Server AMELX_000025 15/10563 12/6728 3/3835 - - - - - - -
?/? c.507C>T r.(=) p.(=) g.11317030C>T Copied from the Exome Variant Server AMELX_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.539C>A r.(?) p.(Pro180Gln) g.11317062C>A Copied from the Exome Variant Server AMELX_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.571-37T>C r.(=) p.(=) g.11318690T>C Copied from the Exome Variant Server AMELX_000028 1/10559 0/6724 1/3835 - - - - - - -
?/? c.571-33T>C r.(=) p.(=) g.11318694T>C Copied from the Exome Variant Server AMELX_000029 1/10559 1/6724 0/3835 - - - - - - -
?/? c.*14G>A r.(=) p.(=) g.11318746G>A Copied from the Exome Variant Server AMELX_000030 2/10560 0/6725 2/3835 - - - - - - -
?/? c.*38G>A r.(=) p.(=) g.11318770G>A Copied from the Exome Variant Server AMELX_000031 10/10559 9/6724 1/3835 - - - - - - -
?/? c.*39C>T r.(=) p.(=) g.11318771C>T Copied from the Exome Variant Server AMELX_000032 1/10559 1/6724 0/3835 - - - - - - -
?/? c.*54C>A r.(=) p.(=) g.11318786C>A Copied from the Exome Variant Server AMELX_000033 1/3596 0/2387 1/1209 - - - - - - -
Legend