Full data view for gene ALAS2

Information The variants shown are described using the NM_000032.4 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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.-16+671T>C r.(=) p.(=) g.55056704A>G Copied from the Exome Variant Server ALAS2_000067 1/3600 1/2391 0/1209 - - - - - - -
?/? c.-15-1790G>A r.(=) p.(=) g.55054238C>T Copied from the Exome Variant Server ALAS2_000066 34/9615 34/6401 0/3214 - - - - - - -
?/? c.-15-1786G>A r.(=) p.(=) g.55054234C>T Copied from the Exome Variant Server ALAS2_000065 1/9625 0/6407 1/3218 - - - - - - -
?/? c.-15-1732C>T r.(=) p.(=) g.55054180G>A Copied from the Exome Variant Server ALAS2_000064 1/9826 1/6479 0/3347 - - - - - - -
?/? c.-15-1731G>A r.(=) p.(=) g.55054179C>T Copied from the Exome Variant Server ALAS2_000063 1/9848 1/6481 0/3367 - - - - - - -
?/? c.26A>C r.(?) p.(Gln9Pro) g.55052408T>G Copied from the Exome Variant Server ALAS2_000062 2/10563 2/6728 0/3835 - - - - - - -
?/? c.37G>A r.(?) p.(Val13Met) g.55052397C>T Copied from the Exome Variant Server ALAS2_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.104T>C r.(?) p.(Ile35Thr) g.55052330A>G Copied from the Exome Variant Server ALAS2_000060 1/10563 0/6728 1/3835 - - - - - - -
?/? c.181+9A>G r.(=) p.(=) g.55052244T>C Copied from the Exome Variant Server ALAS2_000059 5/10563 0/6728 5/3835 - - - - - - -
?/? c.181+39G>T r.(=) p.(=) g.55052214C>A Copied from the Exome Variant Server ALAS2_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.181+52A>G r.(=) p.(=) g.55052201T>C Copied from the Exome Variant Server ALAS2_000057 26/4525 0/3107 26/1418 - - - - - - -
?/? c.197C>T r.(?) p.(Ala66Val) g.55051258G>A Copied from the Exome Variant Server ALAS2_000056 2/10563 1/6728 1/3835 - - - - - - -
?/? c.198G>A r.(=) p.(=) g.55051257C>T Copied from the Exome Variant Server ALAS2_000055 171/10563 0/6728 171/3835 - - - - - - -
?/? c.278A>G r.(?) p.(Gln93Arg) g.55051177T>C Copied from the Exome Variant Server ALAS2_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.282A>G r.(=) p.(=) g.55051173T>C Copied from the Exome Variant Server ALAS2_000053 104/10563 1/6728 103/3835 - - - - - - -
?/? c.287T>C r.(?) p.(Val96Ala) g.55051168A>G Copied from the Exome Variant Server ALAS2_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.304+51C>A r.(=) p.(=) g.55051100G>T Copied from the Exome Variant Server ALAS2_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.305-8C>T r.(=) p.(=) g.55050308G>A Copied from the Exome Variant Server ALAS2_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.322G>T r.(?) p.(Val108Phe) g.55050283C>A Copied from the Exome Variant Server ALAS2_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.331A>C r.(?) p.(Ser111Arg) g.55050274T>G Copied from the Exome Variant Server ALAS2_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.373A>G r.(?) p.(Ile125Val) g.55050232T>C Copied from the Exome Variant Server ALAS2_000047 6/10563 0/6728 6/3835 - - - - - - -
?/? c.416-34C>T r.(=) p.(=) g.55047741G>A Copied from the Exome Variant Server ALAS2_000046 423/10563 393/6728 30/3835 - - - - - - -
?/? c.431G>A r.(?) p.(Ser144Asn) g.55047692C>T Copied from the Exome Variant Server ALAS2_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.538C>T r.(?) p.(His180Tyr) g.55047585G>A Copied from the Exome Variant Server ALAS2_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.653G>A r.(?) p.(Arg218His) g.55046923C>T Copied from the Exome Variant Server ALAS2_000043 4/10535 4/6710 0/3825 - - - - - - -
?/? c.713A>T r.(?) p.(Glu238Val) g.55046863T>A Copied from the Exome Variant Server ALAS2_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.824-15C>T r.(=) p.(=) g.55044113G>A Copied from the Exome Variant Server ALAS2_000041 87/10563 1/6728 86/3835 - - - - - - -
?/? c.828C>T r.(=) p.(=) g.55044094G>A Copied from the Exome Variant Server ALAS2_000040 8/10563 7/6728 1/3835 - - - - - - -
?/? c.829G>A r.(?) p.(Glu277Lys) g.55044093C>T Copied from the Exome Variant Server ALAS2_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.844G>A r.(?) p.(Ala282Thr) g.55044078C>T Copied from the Exome Variant Server ALAS2_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.878G>A r.(?) p.(Arg293His) g.55044044C>T Copied from the Exome Variant Server ALAS2_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.886G>A r.(?) p.(Gly296Arg) g.55044036C>T Copied from the Exome Variant Server ALAS2_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1003+19G>A r.(=) p.(=) g.55043900C>T Copied from the Exome Variant Server ALAS2_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1021G>A r.(?) p.(Glu341Lys) g.55042158C>T Copied from the Exome Variant Server ALAS2_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1074G>A r.(=) p.(=) g.55042105C>T Copied from the Exome Variant Server ALAS2_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1080T>C r.(=) p.(=) g.55042099A>G Copied from the Exome Variant Server ALAS2_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1092G>A r.(=) p.(=) g.55042087C>T Copied from the Exome Variant Server ALAS2_000031 43/10563 0/6728 43/3835 - - - - - - -
?/? c.1103G>A r.(?) p.(Arg368Gln) g.55042076C>T Copied from the Exome Variant Server ALAS2_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1107C>T r.(=) p.(=) g.55042072G>A Copied from the Exome Variant Server ALAS2_000029 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1167T>G r.(=) p.(=) g.55042012A>C Copied from the Exome Variant Server ALAS2_000028 43/10563 0/6728 43/3835 - - - - - - -
?/? c.1188G>A r.(=) p.(=) g.55041429C>T Copied from the Exome Variant Server ALAS2_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1202C>T r.(?) p.(Ala401Val) g.55041415G>A Copied from the Exome Variant Server ALAS2_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1244C>T r.(?) p.(Ala415Val) g.55041373G>A Copied from the Exome Variant Server ALAS2_000025 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1436G>A r.(?) p.(Arg479Gln) g.55041181C>T Copied from the Exome Variant Server ALAS2_000024 13/10561 13/6727 0/3834 - - - - - - -
?/? c.1437+8C>T r.(=) p.(=) g.55041172G>A Copied from the Exome Variant Server ALAS2_000023 1/10561 0/6727 1/3834 - - - - - - -
?/? c.1437+21A>C r.(=) p.(=) g.55041159T>G Copied from the Exome Variant Server ALAS2_000022 2/10561 2/6727 0/3834 - - - - - - -
?/? c.1438-19G>C r.(=) p.(=) g.55040100C>G Copied from the Exome Variant Server ALAS2_000021 41/10563 0/6728 41/3835 - - - - - - -
?/? c.1438-16T>G r.(=) p.(=) g.55040097A>C Copied from the Exome Variant Server ALAS2_000020 166/10563 156/6728 10/3835 - - - - - - -
?/? c.1509C>T r.(=) p.(=) g.55040010G>A Copied from the Exome Variant Server ALAS2_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1532G>A r.(?) p.(Arg511Gln) g.55039987C>T Copied from the Exome Variant Server ALAS2_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1559C>T r.(?) p.(Pro520Leu) g.55039960G>A Copied from the Exome Variant Server ALAS2_000017 8/10563 8/6728 0/3835 - - - - - - -
?/? c.1560C>A r.(=) p.(=) g.55039959G>T Copied from the Exome Variant Server ALAS2_000016 43/10563 42/6728 1/3835 - - - - - - -
?/? c.1567C>G r.(?) p.(His523Asp) g.55039952G>C Copied from the Exome Variant Server ALAS2_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1600+3A>G r.spl? p.? g.55039916T>C Copied from the Exome Variant Server ALAS2_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1600+31C>G r.(=) p.(=) g.55039888G>C Copied from the Exome Variant Server ALAS2_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1626G>A r.(=) p.(=) g.55035751C>T Copied from the Exome Variant Server ALAS2_000012 203/10556 1/6723 202/3833 - - - - - - -
?/? c.1629G>A r.(=) p.(=) g.55035748C>T Copied from the Exome Variant Server ALAS2_000011 1/10556 0/6723 1/3833 - - - - - - -
?/? c.1647T>C r.(=) p.(=) g.55035730A>G Copied from the Exome Variant Server ALAS2_000010 8/10561 0/6727 8/3834 - - - - - - -
?/? c.1650_1651del r.(?) p.(Ser551Cysfs*14) g.55035726_55035727del Copied from the Exome Variant Server ALAS2_000009 1/10202 1/6481 0/3721 - - - - - - -
?/? c.1676G>A r.(?) p.(Arg559His) g.55035701C>T Copied from the Exome Variant Server ALAS2_000008 22/10563 21/6728 1/3835 - - - - - - -
?/? c.1695G>C r.(?) p.(Glu565Asp) g.55035682C>G Copied from the Exome Variant Server ALAS2_000007 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1714C>T r.(?) p.(Arg572Cys) g.55035663G>A Copied from the Exome Variant Server ALAS2_000006 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1718C>T r.(?) p.(Ser573Phe) g.55035659G>A Copied from the Exome Variant Server ALAS2_000005 5/10562 5/6727 0/3835 - - - - - - -
?/? c.1755C>T r.(=) p.(=) g.55035622G>A Copied from the Exome Variant Server ALAS2_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1757A>T r.(?) p.(Tyr586Phe) g.55035620T>A Copied from the Exome Variant Server ALAS2_000003 31/10563 0/6728 31/3835 - - - - - - -
?/? c.*34C>T r.(=) p.(=) g.55035579G>A Copied from the Exome Variant Server ALAS2_000002 1/10559 1/6725 0/3834 - - - - - - -
?/? c.*35G>A r.(=) p.(=) g.55035578C>T Copied from the Exome Variant Server ALAS2_000001 4/10559 2/6725 2/3834 - - - - - - -
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