Full data view for gene XIAP

Information The variants shown are described using the NM_001167.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.23G>A r.(?) p.(Gly8Glu) g.123019535G>A Copied from the Exome Variant Server XIAP_000001 5/10559 0/6726 5/3833 - - - - - - -
?/? c.180C>T r.(=) p.(=) g.123019692C>T Copied from the Exome Variant Server XIAP_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.183G>T r.(=) p.(=) g.123019695G>T Copied from the Exome Variant Server XIAP_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.184C>T r.(?) p.(Arg62Trp) g.123019696C>T Copied from the Exome Variant Server XIAP_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.215G>A r.(?) p.(Arg72Lys) g.123019727G>A Copied from the Exome Variant Server XIAP_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.265A>C r.(?) p.(Asn89His) g.123019777A>C Copied from the Exome Variant Server XIAP_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.276T>C r.(=) p.(=) g.123019788T>C Copied from the Exome Variant Server XIAP_000007 19/10563 16/6728 3/3835 - - - - - - -
?/? c.301A>G r.(?) p.(Ser101Gly) g.123019813A>G Copied from the Exome Variant Server XIAP_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.309G>A r.(=) p.(=) g.123019821G>A Copied from the Exome Variant Server XIAP_000009 3/10563 3/6728 0/3835 - - - - - - -
?/? c.368G>A r.(?) p.(Ser123Asn) g.123019880G>A Copied from the Exome Variant Server XIAP_000010 1/10554 0/6725 1/3829 - - - - - - -
?/? c.455C>G r.(?) p.(Thr152Ser) g.123019967C>G Copied from the Exome Variant Server XIAP_000011 3/10563 0/6728 3/3835 - - - - - - -
?/? c.471C>G r.(?) p.(Asn157Lys) g.123019983C>G Copied from the Exome Variant Server XIAP_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.499T>C r.(=) p.(=) g.123020011T>C Copied from the Exome Variant Server XIAP_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.605G>C r.(?) p.(Cys202Ser) g.123020117G>C Copied from the Exome Variant Server XIAP_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.683T>G r.(?) p.(Phe228Cys) g.123020195T>G Copied from the Exome Variant Server XIAP_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.688G>A r.(?) p.(Val230Ile) g.123020200G>A Copied from the Exome Variant Server XIAP_000016 6/10563 0/6728 6/3835 - - - - - - -
?/? c.698G>A r.(?) p.(Arg233Gln) g.123020210G>A Copied from the Exome Variant Server XIAP_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.769C>G r.(?) p.(Pro257Ala) g.123020281C>G Copied from the Exome Variant Server XIAP_000018 15/10563 14/6728 1/3835 - - - - - - -
?/? c.877+40A>G r.(=) p.(=) g.123020429A>G Copied from the Exome Variant Server XIAP_000019 8/10179 0/6596 8/3583 - - - - - - -
?/? c.878-47T>G r.(=) p.(=) g.123022422T>G Copied from the Exome Variant Server XIAP_000020 9/10563 8/6728 1/3835 - - - - - - -
?/? c.878-5C>T r.spl? p.? g.123022464C>T Copied from the Exome Variant Server XIAP_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.878-4G>A r.spl? p.? g.123022465G>A Copied from the Exome Variant Server XIAP_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.978G>A r.(=) p.(=) g.123025088G>A Copied from the Exome Variant Server XIAP_000023 1/10416 0/6640 1/3776 - - - - - - -
?/? c.1028A>G r.(?) p.(His343Arg) g.123025138A>G Copied from the Exome Variant Server XIAP_000024 1/10426 1/6642 0/3784 - - - - - - -
?/? c.1056+43T>G r.(=) p.(=) g.123025209T>G Copied from the Exome Variant Server XIAP_000025 17/9669 0/6279 17/3390 - - - - - - -
?/? c.1056+45_1056+47del r.(=) p.(=) g.123025211_123025213del Copied from the Exome Variant Server XIAP_000026 2/8949 1/5829 1/3120 - - - - - - -
?/? c.1057-21C>T r.(=) p.(=) g.123026560C>T Copied from the Exome Variant Server XIAP_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1058T>C r.(?) p.(Val353Ala) g.123026582T>C Copied from the Exome Variant Server XIAP_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1071G>A r.(=) p.(=) g.123026595G>A Copied from the Exome Variant Server XIAP_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1075A>G r.(?) p.(Thr359Ala) g.123026599A>G Copied from the Exome Variant Server XIAP_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1099+37G>A r.(=) p.(=) g.123026660G>A Copied from the Exome Variant Server XIAP_000031 26/10544 0/6711 26/3833 - - - - - - -
?/? c.1100-40T>G r.(=) p.(=) g.123034303T>G Copied from the Exome Variant Server XIAP_000032 8/10475 8/6677 0/3798 - - - - - - -
?/? c.1100-35T>G r.(=) p.(=) g.123034308T>G Copied from the Exome Variant Server XIAP_000033 24/10499 0/6697 24/3802 - - - - - - -
?/? c.1100-32A>G r.(=) p.(=) g.123034311A>G Copied from the Exome Variant Server XIAP_000034 1/10520 0/6707 1/3813 - - - - - - -
?/? c.1122T>C r.(=) p.(=) g.123034365T>C Copied from the Exome Variant Server XIAP_000035 2/10562 0/6727 2/3835 - - - - - - -
?/? c.1138A>G r.(?) p.(Ile380Val) g.123034381A>G Copied from the Exome Variant Server XIAP_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1149G>A r.(=) p.(=) g.123034392G>A Copied from the Exome Variant Server XIAP_000037 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1242A>G r.(=) p.(=) g.123034485A>G Copied from the Exome Variant Server XIAP_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1268A>C r.(?) p.(Gln423Pro) g.123034511A>C Copied from the Exome Variant Server XIAP_000039 4189/10563 2379/6728 1810/3835 - - - - - - -
?/? c.1300+18T>C r.(=) p.(=) g.123034561T>C Copied from the Exome Variant Server XIAP_000040 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1408A>T r.(?) p.(Thr470Ser) g.123040945A>T Copied from the Exome Variant Server XIAP_000041 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1428A>C r.(?) p.(Glu476Asp) g.123040965A>C Copied from the Exome Variant Server XIAP_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*12A>G r.(=) p.(=) g.123041043A>G Copied from the Exome Variant Server XIAP_000043 1973/10563 1356/6728 617/3835 - - - - - - -
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