All transcript variants in gene SPANXN1

Information The variants shown are described using the NM_001009614.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.29G>A r.(?) p.(Gly10Glu) g.144329135G>A Copied from the Exome Variant Server SPANXN1_000001 1/10561 1/6726 0/3835
?/? c.30G>A r.(=) p.(=) g.144329136G>A Copied from the Exome Variant Server SPANXN1_000002 1/10561 1/6726 0/3835
?/? c.62A>G r.(?) p.(Asn21Ser) g.144329168A>G Copied from the Exome Variant Server SPANXN1_000003 5/10562 0/6727 5/3835
?/? c.75+32G>C r.(=) p.(=) g.144329213G>C Copied from the Exome Variant Server SPANXN1_000004 7/10558 0/6723 7/3835
?/? c.75+58G>A r.(=) p.(=) g.144329239G>A Copied from the Exome Variant Server SPANXN1_000005 83/3600 1/2391 82/1209
?/? c.76-52T>C r.(=) p.(=) g.144337139T>C Copied from the Exome Variant Server SPANXN1_000006 11/4519 10/3101 1/1418
?/? c.76-48A>G r.(=) p.(=) g.144337143A>G Copied from the Exome Variant Server SPANXN1_000007 256/10546 5/6717 251/3829
?/? c.76-33T>G r.(=) p.(=) g.144337158T>G Copied from the Exome Variant Server SPANXN1_000008 2/10555 0/6720 2/3835
?/? c.76-29T>C r.(=) p.(=) g.144337162T>C Copied from the Exome Variant Server SPANXN1_000009 237/10555 3/6720 234/3835
?/? c.76-27T>C r.(=) p.(=) g.144337164T>C Copied from the Exome Variant Server SPANXN1_000010 240/10555 3/6720 237/3835
?/? c.81G>A r.(=) p.(=) g.144337196G>A Copied from the Exome Variant Server SPANXN1_000011 1/10560 1/6725 0/3835
?/? c.85A>G r.(?) p.(Thr29Ala) g.144337200A>G Copied from the Exome Variant Server SPANXN1_000012 46/10560 0/6725 46/3835
?/? c.90A>G r.(=) p.(=) g.144337205A>G Copied from the Exome Variant Server SPANXN1_000013 1/10560 1/6725 0/3835
?/? c.106C>T r.(?) p.(Pro36Ser) g.144337221C>T Copied from the Exome Variant Server SPANXN1_000014 2/10560 2/6725 0/3835
?/? c.109G>A r.(?) p.(Glu37Lys) g.144337224G>A Copied from the Exome Variant Server SPANXN1_000015 3/10560 1/6725 2/3835
?/? c.114G>A r.(=) p.(=) g.144337229G>A Copied from the Exome Variant Server SPANXN1_000016 1/10560 1/6725 0/3835
?/? c.122A>G r.(?) p.(Lys41Arg) g.144337237A>G Copied from the Exome Variant Server SPANXN1_000017 1/10560 1/6725 0/3835
?/? c.171G>A r.(=) p.(=) g.144337286G>A Copied from the Exome Variant Server SPANXN1_000018 835/10560 9/6725 826/3835
?/? c.174A>G r.(=) p.(=) g.144337289A>G Copied from the Exome Variant Server SPANXN1_000019 679/10560 12/6725 667/3835
?/? c.180G>A r.(=) p.(=) g.144337295G>A Copied from the Exome Variant Server SPANXN1_000020 125/10560 1/6725 124/3835
?/? c.183A>G r.(=) p.(=) g.144337298A>G Copied from the Exome Variant Server SPANXN1_000021 44/10560 0/6725 44/3835
?/? c.207T>C r.(=) p.(=) g.144337322T>C Copied from the Exome Variant Server SPANXN1_000022 18/10561 1/6726 17/3835
?/? c.218_219del r.(=) p.(=) g.144337333_144337334del Copied from the Exome Variant Server SPANXN1_000023 19/10203 0/6482 19/3721
?/? c.*1G>C r.(=) p.(=) g.144337335G>C Copied from the Exome Variant Server SPANXN1_000024 1/10559 0/6724 1/3835
Legend