All transcript variants in gene SOWAHD

Information The variants shown are described using the NM_001105576.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-27G>A r.(=) p.(=) g.118892604G>A Copied from the Exome Variant Server SOWAHD_000001 46/6523 0/4407 46/2116
?/? c.9G>A r.(=) p.(=) g.118892639G>A Copied from the Exome Variant Server SOWAHD_000002 1/6952 1/4737 0/2215
?/? c.235_236insA r.(?) p.(Gly79Glufs*49) g.118892865_118892866insA Copied from the Exome Variant Server SOWAHD_000003 14/5105 10/3590 4/1515
?/? c.241del r.(?) p.(Gln81Serfs*96) g.118892871del Copied from the Exome Variant Server SOWAHD_000004 17/4965 13/3512 4/1453
?/? c.258G>C r.(=) p.(=) g.118892888G>C Copied from the Exome Variant Server SOWAHD_000005 3690/5389 2545/3778 1145/1611
?/? c.309G>A r.(=) p.(=) g.118892939G>A Copied from the Exome Variant Server SOWAHD_000006 91/8362 3/5425 88/2937
?/? c.393G>C r.(?) p.(Glu131Asp) g.118893023G>C Copied from the Exome Variant Server SOWAHD_000007 1/10152 1/6519 0/3633
?/? c.424C>A r.(=) p.(=) g.118893054C>A Copied from the Exome Variant Server SOWAHD_000008 6724/10145 4207/6500 2517/3645
?/? c.474C>T r.(=) p.(=) g.118893104C>T Copied from the Exome Variant Server SOWAHD_000009 2/9880 1/6403 1/3477
?/? c.507T>C r.(=) p.(=) g.118893137T>C Copied from the Exome Variant Server SOWAHD_000010 6344/9756 4068/6347 2276/3409
?/? c.760A>G r.(?) p.(Thr254Ala) g.118893390A>G Copied from the Exome Variant Server SOWAHD_000011 268/10067 19/6452 249/3615
?/? c.783T>C r.(=) p.(=) g.118893413T>C Copied from the Exome Variant Server SOWAHD_000012 6954/10139 4152/6489 2802/3650
?/? c.798G>T r.(?) p.(Trp266Cys) g.118893428G>T Copied from the Exome Variant Server SOWAHD_000013 1/10142 1/6491 0/3651
?/? c.822G>A r.(=) p.(=) g.118893452G>A Copied from the Exome Variant Server SOWAHD_000014 1/10086 1/6454 0/3632
?/? c.918C>T r.(=) p.(=) g.118893548C>T Copied from the Exome Variant Server SOWAHD_000015 1/10067 1/6450 0/3617
?/? c.927C>A r.(?) p.(Phe309Leu) g.118893557C>A Copied from the Exome Variant Server SOWAHD_000016 1/10005 1/6411 0/3594
?/? c.*40T>C r.(=) p.(=) g.118893618T>C Copied from the Exome Variant Server SOWAHD_000017 1/9764 1/6274 0/3490
Legend