All transcript variants in gene EGFL6

Information The variants shown are described using the NM_015507.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-14G>A r.(=) p.(=) g.13587967G>A Copied from the Exome Variant Server EGFL6_000001 3/10563 3/6728 0/3835
?/? c.22G>A r.(?) p.(Ala8Thr) g.13588002G>A Copied from the Exome Variant Server EGFL6_000002 1/10563 1/6728 0/3835
?/? c.74+11G>A r.(=) p.(=) g.13588065G>A Copied from the Exome Variant Server EGFL6_000003 1/10562 1/6727 0/3835
?/? c.74+19A>T r.(=) p.(=) g.13588073A>T Copied from the Exome Variant Server EGFL6_000004 2/10562 2/6727 0/3835
?/? c.74+34del r.(=) p.(=) g.13588088del Copied from the Exome Variant Server EGFL6_000005 8/10200 7/6479 1/3721
?/? c.75-48T>C r.(=) p.(=) g.13607627T>C Copied from the Exome Variant Server EGFL6_000006 1/10562 0/6727 1/3835
?/? c.76G>C r.(?) p.(Ala26Pro) g.13607676G>C Copied from the Exome Variant Server EGFL6_000007 3/10563 3/6728 0/3835
?/? c.188-45C>G r.(=) p.(=) g.13612910C>G Copied from the Exome Variant Server EGFL6_000008 6/10563 6/6728 0/3835
?/? c.188-36G>T r.(=) p.(=) g.13612919G>T Copied from the Exome Variant Server EGFL6_000009 1/10563 0/6728 1/3835
?/? c.196G>A r.(?) p.(Glu66Lys) g.13612963G>A Copied from the Exome Variant Server EGFL6_000010 204/10563 0/6728 204/3835
?/? c.222C>T r.(=) p.(=) g.13612989C>T Copied from the Exome Variant Server EGFL6_000011 11/10563 0/6728 11/3835
?/? c.223G>A r.(?) p.(Val75Met) g.13612990G>A Copied from the Exome Variant Server EGFL6_000012 61/10563 53/6728 8/3835
?/? c.258C>T r.(=) p.(=) g.13613025C>T Copied from the Exome Variant Server EGFL6_000013 1/10563 0/6728 1/3835
?/? c.280+14C>T r.(=) p.(=) g.13613061C>T Copied from the Exome Variant Server EGFL6_000014 725/10563 664/6728 61/3835
?/? c.280+19G>A r.(=) p.(=) g.13613066G>A Copied from the Exome Variant Server EGFL6_000015 1/10563 1/6728 0/3835
?/? c.280+35C>T r.(=) p.(=) g.13613082C>T Copied from the Exome Variant Server EGFL6_000016 37/10563 0/6728 37/3835
?/? c.281-30C>T r.(=) p.(=) g.13618064C>T Copied from the Exome Variant Server EGFL6_000018 1/10563 1/6728 0/3835
?/? c.304C>T r.(?) p.(Pro102Ser) g.13618117C>T Copied from the Exome Variant Server EGFL6_000020 1/10563 1/6728 0/3835
?/? c.307C>T r.(?) p.(Arg103Trp) g.13618120C>T Copied from the Exome Variant Server EGFL6_000023 23/10563 0/6728 23/3835
?/? c.324A>G r.(=) p.(=) g.13618137A>G Copied from the Exome Variant Server EGFL6_000025 321/10563 8/6728 313/3835
?/? c.340G>A r.(?) p.(Gly114Arg) g.13618153G>A Copied from the Exome Variant Server EGFL6_000027 1/10563 1/6728 0/3835
?/? c.348C>T r.(=) p.(=) g.13618161C>T Copied from the Exome Variant Server EGFL6_000029 158/10563 0/6728 158/3835
?/? c.351G>A r.(=) p.(=) g.13618164G>A Copied from the Exome Variant Server EGFL6_000031 321/10563 8/6728 313/3835
?/? c.401-49C>G r.(=) p.(=) g.13621387C>G Copied from the Exome Variant Server EGFL6_000033 1/10563 1/6728 0/3835
?/? c.423A>G r.(?) p.(Ile141Met) g.13621458A>G Copied from the Exome Variant Server EGFL6_000037 1/10563 1/6728 0/3835
?/? c.487C>T r.(?) p.(Leu163Phe) g.13621522C>T Copied from the Exome Variant Server EGFL6_000017 1/10563 1/6728 0/3835
?/? c.490C>T r.(?) p.(Arg164Cys) g.13621525C>T Copied from the Exome Variant Server EGFL6_000019 209/10563 0/6728 209/3835
?/? c.492C>G r.(=) p.(=) g.13621527C>G Copied from the Exome Variant Server EGFL6_000021 1/10563 0/6728 1/3835
?/? c.502A>G r.(?) p.(Asn168Asp) g.13621537A>G Copied from the Exome Variant Server EGFL6_000022 2/10563 0/6728 2/3835
?/? c.514T>C r.(?) p.(Cys172Arg) g.13621549T>C Copied from the Exome Variant Server EGFL6_000024 1/10563 1/6728 0/3835
?/? c.520+9G>T r.(=) p.(=) g.13621564G>T Copied from the Exome Variant Server EGFL6_000026 1/10563 1/6728 0/3835
?/? c.520+20C>G r.(=) p.(=) g.13621575C>G Copied from the Exome Variant Server EGFL6_000028 1/10563 0/6728 1/3835
?/? c.520+25C>T r.(=) p.(=) g.13621580C>T Copied from the Exome Variant Server EGFL6_000030 1/10563 1/6728 0/3835
?/? c.561C>T r.(=) p.(=) g.13624538C>T Copied from the Exome Variant Server EGFL6_000032 8/10563 0/6728 8/3835
?/? c.582A>T r.(=) p.(=) g.13624559A>T Copied from the Exome Variant Server EGFL6_000034 16/10563 0/6728 16/3835
?/? c.586G>T r.(?) p.(Gly196*) g.13624563G>T Copied from the Exome Variant Server EGFL6_000036 1/10563 1/6728 0/3835
?/? c.618C>T r.(=) p.(=) g.13624595C>T Copied from the Exome Variant Server EGFL6_000039 281/10563 1/6728 280/3835
?/? c.635G>A r.(?) p.(Ser212Asn) g.13624612G>A Copied from the Exome Variant Server EGFL6_000041 1/10563 1/6728 0/3835
?/? c.653T>A r.(?) p.(Ile218Lys) g.13624630T>A Copied from the Exome Variant Server EGFL6_000043 26/10563 1/6728 25/3835
?/? c.655+4A>G r.spl? p.? g.13624636A>G Copied from the Exome Variant Server EGFL6_000044 1/10563 1/6728 0/3835
?/? c.655+9C>T r.(=) p.(=) g.13624641C>T Copied from the Exome Variant Server EGFL6_000047 284/10563 5/6728 279/3835
?/? c.655+29T>C r.(=) p.(=) g.13624661T>C Copied from the Exome Variant Server EGFL6_000049 2/10563 2/6728 0/3835
?/? c.655+47C>T r.(=) p.(=) g.13624679C>T Copied from the Exome Variant Server EGFL6_000051 1/10563 1/6728 0/3835
?/? c.656-40T>C r.(=) p.(=) g.13626403T>C Copied from the Exome Variant Server EGFL6_000053 2064/10563 412/6728 1652/3835
?/? c.656-24G>A r.(=) p.(=) g.13626419G>A Copied from the Exome Variant Server EGFL6_000055 7/10563 5/6728 2/3835
?/? c.686C>T r.(?) p.(Thr229Met) g.13626473C>T Copied from the Exome Variant Server EGFL6_000057 1/10563 1/6728 0/3835
?/? c.719A>G r.(?) p.(Gln240Arg) g.13626506A>G Copied from the Exome Variant Server EGFL6_000059 2/10563 0/6728 2/3835
?/? c.778+34T>G r.(=) p.(=) g.13626599T>G Copied from the Exome Variant Server EGFL6_000061 282/10563 1/6728 281/3835
?/? c.779-51G>A r.(=) p.(=) g.13635798G>A Copied from the Exome Variant Server EGFL6_000063 1/10405 0/6667 1/3738
?/? c.779-44A>C r.(=) p.(=) g.13635805A>C Copied from the Exome Variant Server EGFL6_000065 5/10447 0/6692 5/3755
?/? c.779-40A>G r.(=) p.(=) g.13635809A>G Copied from the Exome Variant Server EGFL6_000035 1/10471 0/6700 1/3771
?/? c.779-10del r.(=) p.(=) g.13635839del Copied from the Exome Variant Server EGFL6_000038 14/10185 7/6479 7/3706
?/? c.850C>T r.(?) p.(Leu284Phe) g.13635920C>T Copied from the Exome Variant Server EGFL6_000040 1/10563 1/6728 0/3835
?/? c.867C>T r.(=) p.(=) g.13635937C>T Copied from the Exome Variant Server EGFL6_000042 623/10563 429/6728 194/3835
?/? c.903A>G r.(=) p.(=) g.13635973A>G Copied from the Exome Variant Server EGFL6_000045 1/10563 1/6728 0/3835
?/? c.926C>G r.(?) p.(Pro309Arg) g.13635996C>G Copied from the Exome Variant Server EGFL6_000046 1/10563 1/6728 0/3835
?/? c.930G>A r.(=) p.(=) g.13636000G>A Copied from the Exome Variant Server EGFL6_000048 1/10563 1/6728 0/3835
?/? c.945C>T r.(=) p.(=) g.13636015C>T Copied from the Exome Variant Server EGFL6_000050 2/10563 2/6728 0/3835
?/? c.975C>T r.(=) p.(=) g.13636045C>T Copied from the Exome Variant Server EGFL6_000052 1/10562 0/6727 1/3835
?/? c.999A>G r.(=) p.(=) g.13636069A>G Copied from the Exome Variant Server EGFL6_000054 1/10560 0/6727 1/3833
?/? c.1086G>C r.(=) p.(=) g.13636156G>C Copied from the Exome Variant Server EGFL6_000056 1/10557 0/6724 1/3833
?/? c.1087C>A r.(=) p.(=) g.13636157C>A Copied from the Exome Variant Server EGFL6_000058 15/10557 14/6724 1/3833
?/? c.1103-34del r.(=) p.(=) g.13637248del Copied from the Exome Variant Server EGFL6_000060 49/10205 35/6484 14/3721
?/? c.1103T>C r.(?) p.(Phe368Ser) g.13637282T>C Copied from the Exome Variant Server EGFL6_000062 3/10563 0/6728 3/3835
?/? c.1124G>A r.(?) p.(Gly375Asp) g.13637303G>A Copied from the Exome Variant Server EGFL6_000064 2/10563 2/6728 0/3835
?/? c.1127A>G r.(?) p.(Glu376Gly) g.13637306A>G Copied from the Exome Variant Server EGFL6_000066 64/10563 57/6728 7/3835
?/? c.1133G>C r.(?) p.(Gly378Ala) g.13637312G>C Copied from the Exome Variant Server EGFL6_000068 10/10563 0/6728 10/3835
?/? c.1184-40G>A r.(=) p.(=) g.13641903G>A Copied from the Exome Variant Server EGFL6_000070 1/10563 1/6728 0/3835
?/? c.1184A>T r.(?) p.(Asp395Val) g.13641943A>T Copied from the Exome Variant Server EGFL6_000072 1/10563 1/6728 0/3835
?/? c.1212C>T r.(=) p.(=) g.13641971C>T Copied from the Exome Variant Server EGFL6_000074 5/10563 5/6728 0/3835
?/? c.1242T>C r.(=) p.(=) g.13642001T>C Copied from the Exome Variant Server EGFL6_000076 1/10563 1/6728 0/3835
?/? c.1277G>A r.(?) p.(Arg426Gln) g.13642036G>A Copied from the Exome Variant Server EGFL6_000078 1/10563 1/6728 0/3835
?/? c.1285+6T>G r.(=) p.(=) g.13642050T>G Copied from the Exome Variant Server EGFL6_000080 1/10563 1/6728 0/3835
?/? c.1285+44G>A r.(=) p.(=) g.13642088G>A Copied from the Exome Variant Server EGFL6_000082 23/10563 0/6728 23/3835
?/? c.1286-42C>T r.(=) p.(=) g.13645088C>T Copied from the Exome Variant Server EGFL6_000084 1/10543 1/6726 0/3817
?/? c.1286-21_1286-20insT r.(=) p.(=) g.13645109_13645110insT Copied from the Exome Variant Server EGFL6_000067 1/10205 1/6484 0/3721
?/? c.1323T>A r.(=) p.(=) g.13645167T>A Copied from the Exome Variant Server EGFL6_000069 5/10563 0/6728 5/3835
?/? c.1336A>G r.(?) p.(Ile446Val) g.13645180A>G Copied from the Exome Variant Server EGFL6_000071 2/10563 1/6728 1/3835
?/? c.1337T>C r.(?) p.(Ile446Thr) g.13645181T>C Copied from the Exome Variant Server EGFL6_000073 25/10563 0/6728 25/3835
?/? c.1362T>C r.(=) p.(=) g.13645206T>C Copied from the Exome Variant Server EGFL6_000075 2/10563 0/6728 2/3835
?/? c.1413C>T r.(=) p.(=) g.13645257C>T Copied from the Exome Variant Server EGFL6_000077 1/10563 1/6728 0/3835
?/? c.1425C>T r.(=) p.(=) g.13645269C>T Copied from the Exome Variant Server EGFL6_000079 3/10563 3/6728 0/3835
?/? c.1436G>A r.(?) p.(Arg479Gln) g.13645280G>A Copied from the Exome Variant Server EGFL6_000081 1/10563 1/6728 0/3835
?/? c.1456A>T r.(?) p.(Asn486Tyr) g.13645300A>T Copied from the Exome Variant Server EGFL6_000083 1/10563 0/6728 1/3835
?/? c.1484C>T r.(?) p.(Thr495Met) g.13645328C>T Copied from the Exome Variant Server EGFL6_000085 2/10563 2/6728 0/3835
?/? c.1524G>T r.(?) p.(Leu508Phe) g.13645368G>T Copied from the Exome Variant Server EGFL6_000086 206/10563 1/6728 205/3835
?/? c.1535C>A r.(?) p.(Thr512Asn) g.13645379C>A Copied from the Exome Variant Server EGFL6_000087 1/10563 0/6728 1/3835
?/? c.1603G>A r.(?) p.(Asp535Asn) g.13651155G>A Copied from the Exome Variant Server EGFL6_000088 652/10563 55/6728 597/3835
?/? c.1608C>T r.(=) p.(=) g.13651160C>T Copied from the Exome Variant Server EGFL6_000089 1/10563 0/6728 1/3835
?/? c.1648T>C r.(?) p.(Ser550Pro) g.13651200T>C Copied from the Exome Variant Server EGFL6_000090 1/10563 1/6728 0/3835
?/? c.*14T>C r.(=) p.(=) g.13651228T>C Copied from the Exome Variant Server EGFL6_000091 1/10563 0/6728 1/3835
?/? c.*19T>G r.(=) p.(=) g.13651233T>G Copied from the Exome Variant Server EGFL6_000092 1/10563 0/6728 1/3835
?/? c.*49T>C r.(=) p.(=) g.13651263T>C Copied from the Exome Variant Server EGFL6_000093 1/10561 0/6727 1/3834
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