Full data view for gene PIGA

Information The variants shown are described using the NM_002641.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-31C>T r.(=) p.(=) g.15350083G>A Copied from the Exome Variant Server PIGA_000032 1/10472 1/6661 0/3811 - - - - - - -
?/? c.-2G>T r.(=) p.(=) g.15350054C>A Copied from the Exome Variant Server PIGA_000031 1/10555 0/6723 1/3832 - - - - - - -
?/? c.43G>A r.(?) p.(Ala15Thr) g.15350010C>T Copied from the Exome Variant Server PIGA_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.55C>T r.(?) p.(Arg19Trp) g.15349998G>A Copied from the Exome Variant Server PIGA_000029 349/10563 252/6728 97/3835 - - - - - - -
?/? c.61A>G r.(?) p.(Ser21Gly) g.15349992T>C Copied from the Exome Variant Server PIGA_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.76T>A r.(?) p.(Tyr26Asn) g.15349977A>T Copied from the Exome Variant Server PIGA_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.273C>T r.(=) p.(=) g.15349780G>A Copied from the Exome Variant Server PIGA_000026 2/10563 2/6728 0/3835 - - - - - - -
?/? c.286G>C r.(?) p.(Val96Leu) g.15349767C>G Copied from the Exome Variant Server PIGA_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.438G>C r.(=) p.(=) g.15349615C>G Copied from the Exome Variant Server PIGA_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.15349567G>A Copied from the Exome Variant Server PIGA_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.514A>G r.(?) p.(Thr172Ala) g.15349539T>C Copied from the Exome Variant Server PIGA_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.526T>G r.(?) p.(Cys176Gly) g.15349527A>C Copied from the Exome Variant Server PIGA_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.715+30T>C r.(=) p.(=) g.15349308A>G Copied from the Exome Variant Server PIGA_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.716-46_716-45insT r.(=) p.(=) g.15344213_15344214insA Copied from the Exome Variant Server PIGA_000019 2/9989 2/6364 0/3625 - - - - - - -
?/? c.716-10A>G r.(=) p.(=) g.15344178T>C Copied from the Exome Variant Server PIGA_000018 2/10560 2/6727 0/3833 - - - - - - -
?/? c.849-39G>A r.(=) p.(=) g.15343313C>T Copied from the Exome Variant Server PIGA_000017 1/10562 0/6727 1/3835 - - - - - - -
?/? c.849-23T>C r.(=) p.(=) g.15343297A>G Copied from the Exome Variant Server PIGA_000016 285/10562 15/6727 270/3835 - - - - - - -
?/? c.877A>G r.(?) p.(Lys293Glu) g.15343246T>C Copied from the Exome Variant Server PIGA_000015 2/10563 2/6728 0/3835 - - - - - - -
?/? c.908A>G r.(?) p.(His303Arg) g.15343215T>C Copied from the Exome Variant Server PIGA_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.924C>T r.(=) p.(=) g.15343199G>A Copied from the Exome Variant Server PIGA_000013 2/10563 0/6728 2/3835 - - - - - - -
?/? c.981+9C>T r.(=) p.(=) g.15343133G>A Copied from the Exome Variant Server PIGA_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.982-27A>G r.(=) p.(=) g.15343020T>C Copied from the Exome Variant Server PIGA_000011 1/10559 1/6726 0/3833 - - - - - - -
?/? c.982-3A>C r.spl? p.? g.15342996T>G Copied from the Exome Variant Server PIGA_000010 1/10558 0/6724 1/3834 - - - - - - -
?/? c.1038T>G r.(?) p.(Ile346Met) g.15342937A>C Copied from the Exome Variant Server PIGA_000009 3/10559 0/6726 3/3833 - - - - - - -
?/? c.1048C>T r.(?) p.(Pro350Ser) g.15342927G>A Copied from the Exome Variant Server PIGA_000008 1/10560 1/6727 0/3833 - - - - - - -
?/? c.1197C>T r.(=) p.(=) g.15339886G>A Copied from the Exome Variant Server PIGA_000007 1/10559 1/6726 0/3833 - - - - - - -
?/? c.1297G>A r.(?) p.(Val433Ile) g.15339786C>T Copied from the Exome Variant Server PIGA_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1420G>A r.(?) p.(Gly474Arg) g.15339663C>T Copied from the Exome Variant Server PIGA_000005 26/10563 0/6728 26/3835 - - - - - - -
?/? c.1421G>T r.(?) p.(Gly474Val) g.15339662C>A Copied from the Exome Variant Server PIGA_000004 2/10563 1/6728 1/3835 - - - - - - -
?/? c.*7G>T r.(=) p.(=) g.15339621C>A Copied from the Exome Variant Server PIGA_000003 49/10563 0/6728 49/3835 - - - - - - -
?/? c.*40G>A r.(=) p.(=) g.15339588C>T Copied from the Exome Variant Server PIGA_000002 310/10503 15/6690 295/3813 - - - - - - -
?/? c.*43C>T r.(=) p.(=) g.15339585G>A Copied from the Exome Variant Server PIGA_000001 1/10487 1/6680 0/3807 - - - - - - -
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