All transcript variants in gene GDPD2

Information The variants shown are described using the NM_017711.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.11C>T r.(?) p.(Ser4Phe) g.69644845C>T Copied from the Exome Variant Server GDPD2_000001 1/10554 1/6720 0/3834
?/? c.105+18G>C r.(=) p.(=) g.69644957G>C Copied from the Exome Variant Server GDPD2_000002 1/10553 0/6720 1/3833
?/? c.105+40G>C r.(=) p.(=) g.69644979G>C Copied from the Exome Variant Server GDPD2_000003 1/10534 1/6710 0/3824
?/? c.106-10C>T r.(=) p.(=) g.69645194C>T Copied from the Exome Variant Server GDPD2_000004 1/10563 0/6728 1/3835
?/? c.132C>T r.(=) p.(=) g.69645230C>T Copied from the Exome Variant Server GDPD2_000005 623/10563 581/6728 42/3835
?/? c.147C>T r.(=) p.(=) g.69645245C>T Copied from the Exome Variant Server GDPD2_000006 28/10563 0/6728 28/3835
?/? c.201C>T r.(=) p.(=) g.69645299C>T Copied from the Exome Variant Server GDPD2_000007 1/10563 1/6728 0/3835
?/? c.209+44C>A r.(=) p.(=) g.69645351C>A Copied from the Exome Variant Server GDPD2_000008 49/10563 1/6728 48/3835
?/? c.210-21C>A r.(=) p.(=) g.69645592C>A Copied from the Exome Variant Server GDPD2_000009 1/10563 0/6728 1/3835
?/? c.210-14C>G r.(=) p.(=) g.69645599C>G Copied from the Exome Variant Server GDPD2_000010 1/10563 0/6728 1/3835
?/? c.221G>A r.(?) p.(Arg74His) g.69645624G>A Copied from the Exome Variant Server GDPD2_000011 1/10563 1/6728 0/3835
?/? c.223C>T r.(?) p.(Arg75Cys) g.69645626C>T Copied from the Exome Variant Server GDPD2_000012 1/10563 1/6728 0/3835
?/? c.224G>A r.(?) p.(Arg75His) g.69645627G>A Copied from the Exome Variant Server GDPD2_000013 2/10563 2/6728 0/3835
?/? c.225C>G r.(=) p.(=) g.69645628C>G Copied from the Exome Variant Server GDPD2_000014 1/10563 1/6728 0/3835
?/? c.228G>C r.(?) p.(Trp76Cys) g.69645631G>C Copied from the Exome Variant Server GDPD2_000015 1/10563 0/6728 1/3835
?/? c.303+8C>T r.(=) p.(=) g.69645714C>T Copied from the Exome Variant Server GDPD2_000016 1/10563 0/6728 1/3835
?/? c.303+12G>C r.(=) p.(=) g.69645718G>C Copied from the Exome Variant Server GDPD2_000017 11/10563 0/6728 11/3835
?/? c.303+50T>G r.(=) p.(=) g.69645756T>G Copied from the Exome Variant Server GDPD2_000018 1/10563 0/6728 1/3835
?/? c.304-49C>T r.(=) p.(=) g.69645853C>T Copied from the Exome Variant Server GDPD2_000019 2/10563 2/6728 0/3835
?/? c.304-35G>C r.(=) p.(=) g.69645867G>C Copied from the Exome Variant Server GDPD2_000020 1/10563 1/6728 0/3835
?/? c.304-26T>A r.(=) p.(=) g.69645876T>A Copied from the Exome Variant Server GDPD2_000021 1/10563 0/6728 1/3835
?/? c.304-4C>G r.spl? p.? g.69645898C>G Copied from the Exome Variant Server GDPD2_000022 14/10562 14/6727 0/3835
?/? c.318C>T r.(=) p.(=) g.69645916C>T Copied from the Exome Variant Server GDPD2_000023 1/10563 0/6728 1/3835
?/? c.322C>T r.(?) p.(Arg108Trp) g.69645920C>T Copied from the Exome Variant Server GDPD2_000024 1/10563 1/6728 0/3835
?/? c.348G>T r.(=) p.(=) g.69645946G>T Copied from the Exome Variant Server GDPD2_000025 1/10563 0/6728 1/3835
?/? c.363+22A>G r.(=) p.(=) g.69645983A>G Copied from the Exome Variant Server GDPD2_000027 705/10563 581/6728 124/3835
?/? c.388C>T r.(?) p.(Leu130Phe) g.69646245C>T Copied from the Exome Variant Server GDPD2_000029 1/10563 0/6728 1/3835
?/? c.449G>A r.(?) p.(Arg150His) g.69646306G>A Copied from the Exome Variant Server GDPD2_000031 21/10563 2/6728 19/3835
?/? c.462+21G>A r.(=) p.(=) g.69646340G>A Copied from the Exome Variant Server GDPD2_000033 1/10563 1/6728 0/3835
?/? c.462+44C>A r.(=) p.(=) g.69646363C>A Copied from the Exome Variant Server GDPD2_000026 1/10562 0/6727 1/3835
?/? c.463-48G>A r.(=) p.(=) g.69646450G>A Copied from the Exome Variant Server GDPD2_000028 4/10555 4/6722 0/3833
?/? c.556+21C>A r.(=) p.(=) g.69646612C>A Copied from the Exome Variant Server GDPD2_000030 4/10563 4/6728 0/3835
?/? c.557-13C>T r.(=) p.(=) g.69646703C>T Copied from the Exome Variant Server GDPD2_000032 1/10563 1/6728 0/3835
?/? c.557-12C>G r.(=) p.(=) g.69646704C>G Copied from the Exome Variant Server GDPD2_000034 2/10563 2/6728 0/3835
?/? c.563A>G r.(?) p.(Lys188Arg) g.69646722A>G Copied from the Exome Variant Server GDPD2_000035 3/10563 2/6728 1/3835
?/? c.641T>C r.(?) p.(Ile214Thr) g.69646800T>C Copied from the Exome Variant Server GDPD2_000036 1/10563 1/6728 0/3835
?/? c.702+3G>A r.spl? p.? g.69646864G>A Copied from the Exome Variant Server GDPD2_000037 1/10563 1/6728 0/3835
?/? c.702+18T>G r.(=) p.(=) g.69646879T>G Copied from the Exome Variant Server GDPD2_000038 1/10563 1/6728 0/3835
?/? c.702+27G>A r.(=) p.(=) g.69646888G>A Copied from the Exome Variant Server GDPD2_000039 6/10563 0/6728 6/3835
?/? c.703-32C>T r.(=) p.(=) g.69646955C>T Copied from the Exome Variant Server GDPD2_000040 51/10563 0/6728 51/3835
?/? c.734G>A r.(?) p.(Arg245Gln) g.69647018G>A Copied from the Exome Variant Server GDPD2_000041 2/10563 2/6728 0/3835
?/? c.750C>T r.(=) p.(=) g.69647034C>T Copied from the Exome Variant Server GDPD2_000042 2/10563 1/6728 1/3835
?/? c.785+23G>A r.(=) p.(=) g.69647092G>A Copied from the Exome Variant Server GDPD2_000043 1/10563 1/6728 0/3835
?/? c.785+27C>G r.(=) p.(=) g.69647096C>G Copied from the Exome Variant Server GDPD2_000044 1/10563 1/6728 0/3835
?/? c.785+32G>A r.(=) p.(=) g.69647101G>A Copied from the Exome Variant Server GDPD2_000045 1/10563 0/6728 1/3835
?/? c.792T>C r.(=) p.(=) g.69647169T>C Copied from the Exome Variant Server GDPD2_000046 1066/10563 586/6728 480/3835
?/? c.801C>T r.(=) p.(=) g.69647178C>T Copied from the Exome Variant Server GDPD2_000047 1/10563 0/6728 1/3835
?/? c.813T>C r.(=) p.(=) g.69647190T>C Copied from the Exome Variant Server GDPD2_000048 1/10563 1/6728 0/3835
?/? c.962C>T r.(?) p.(Pro321Leu) g.69649368C>T Copied from the Exome Variant Server GDPD2_000049 1/10563 1/6728 0/3835
?/? c.1077C>G r.(=) p.(=) g.69649483C>G Copied from the Exome Variant Server GDPD2_000050 4/10563 4/6728 0/3835
?/? c.1194C>G r.(=) p.(=) g.69649800C>G Copied from the Exome Variant Server GDPD2_000051 1/10563 1/6728 0/3835
?/? c.1222A>G r.(?) p.(Ile408Val) g.69649828A>G Copied from the Exome Variant Server GDPD2_000052 1/10563 1/6728 0/3835
?/? c.1231C>A r.(?) p.(Arg411Ser) g.69649837C>A Copied from the Exome Variant Server GDPD2_000053 47/10563 0/6728 47/3835
?/? c.1237G>C r.(?) p.(Gly413Arg) g.69649843G>C Copied from the Exome Variant Server GDPD2_000054 2/10563 0/6728 2/3835
?/? c.1245C>T r.(=) p.(=) g.69649851C>T Copied from the Exome Variant Server GDPD2_000055 2/10563 1/6728 1/3835
?/? c.1250C>T r.(?) p.(Thr417Met) g.69649856C>T Copied from the Exome Variant Server GDPD2_000056 1/10563 1/6728 0/3835
?/? c.1251G>A r.(=) p.(=) g.69649857G>A Copied from the Exome Variant Server GDPD2_000057 1/10563 1/6728 0/3835
?/? c.1307+1031C>T r.(=) p.(=) g.69650944C>T Copied from the Exome Variant Server GDPD2_000058 1/3600 1/2391 0/1209
?/? c.1308-13C>T r.(=) p.(=) g.69652144C>T Copied from the Exome Variant Server GDPD2_000059 43/10563 43/6728 0/3835
?/? c.1315C>T r.(?) p.(His439Tyr) g.69652164C>T Copied from the Exome Variant Server GDPD2_000060 1/10563 1/6728 0/3835
?/? c.1322A>G r.(?) p.(Asp441Gly) g.69652171A>G Copied from the Exome Variant Server GDPD2_000061 1/10563 0/6728 1/3835
?/? c.1410C>T r.(=) p.(=) g.69652259C>T Copied from the Exome Variant Server GDPD2_000062 1/10563 0/6728 1/3835
?/? c.1455+29T>C r.(=) p.(=) g.69652333T>C Copied from the Exome Variant Server GDPD2_000063 1/10563 1/6728 0/3835
?/? c.1455+37C>T r.(=) p.(=) g.69652341C>T Copied from the Exome Variant Server GDPD2_000064 1/10563 1/6728 0/3835
?/? c.1455+40del r.(=) p.(=) g.69652344del Copied from the Exome Variant Server GDPD2_000065 4/10205 2/6484 2/3721
?/? c.1456-25del r.(=) p.(=) g.69652404del Copied from the Exome Variant Server GDPD2_000066 22/10205 20/6484 2/3721
?/? c.1483G>A r.(?) p.(Val495Ile) g.69652456G>A Copied from the Exome Variant Server GDPD2_000067 58/10563 51/6728 7/3835
?/? c.1538+9T>A r.(=) p.(=) g.69652520T>A Copied from the Exome Variant Server GDPD2_000068 1/10563 1/6728 0/3835
?/? c.1538+36del r.(=) p.(=) g.69652547del Copied from the Exome Variant Server GDPD2_000069 4/10205 4/6484 0/3721
?/? c.1539-23A>C r.(=) p.(=) g.69652739A>C Copied from the Exome Variant Server GDPD2_000070 1/10563 1/6728 0/3835
?/? c.1539A>G r.(=) p.(=) g.69652762A>G Copied from the Exome Variant Server GDPD2_000071 8766/10563 6398/6728 2368/3835
?/? c.1545T>C r.(=) p.(=) g.69652768T>C Copied from the Exome Variant Server GDPD2_000072 2/10563 0/6728 2/3835
?/? c.1567+5G>A r.spl? p.? g.69652795G>A Copied from the Exome Variant Server GDPD2_000073 2/10563 2/6728 0/3835
?/? c.1568-45C>T r.(=) p.(=) g.69652839C>T Copied from the Exome Variant Server GDPD2_000074 1/10563 0/6728 1/3835
?/? c.1568-12C>G r.(=) p.(=) g.69652872C>G Copied from the Exome Variant Server GDPD2_000075 2/10563 2/6728 0/3835
?/? c.1568-11C>G r.(=) p.(=) g.69652873C>G Copied from the Exome Variant Server GDPD2_000076 1/10563 0/6728 1/3835
?/? c.1587G>A r.(=) p.(=) g.69652903G>A Copied from the Exome Variant Server GDPD2_000077 45/10563 0/6728 45/3835
?/? c.1614G>A r.(?) p.(Met538Ile) g.69652930G>A Copied from the Exome Variant Server GDPD2_000078 4/10563 3/6728 1/3835
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