All transcript variants in gene HECA

Information The variants shown are described using the NM_016217.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-44G>A r.(=) p.(=) g.139456490G>A Copied from the Exome Variant Server HECA_000001 4/9658 3/6246 1/3412
?/? c.-39C>A r.(=) p.(=) g.139456495C>A Copied from the Exome Variant Server HECA_000002 1/9796 1/6346 0/3450
?/? c.-30C>T r.(=) p.(=) g.139456504C>T Copied from the Exome Variant Server HECA_000003 2/10062 2/6532 0/3530
?/? c.25G>A r.(?) p.(Gly9Ser) g.139456558G>A Copied from the Exome Variant Server HECA_000004 1/10692 1/7030 0/3662
?/? c.147_148del r.(?) p.(Cys50Argfs*54) g.139456680_139456681del Copied from the Exome Variant Server HECA_000005 17/112 10/70 7/42
?/? c.272-27T>C r.(=) p.(=) g.139487394T>C Copied from the Exome Variant Server HECA_000006 7380/13002 4888/8598 2492/4404
?/? c.297C>G r.(?) p.(Ile99Met) g.139487446C>G Copied from the Exome Variant Server HECA_000007 1/13006 1/8600 0/4406
?/? c.333C>T r.(=) p.(=) g.139487482C>T Copied from the Exome Variant Server HECA_000008 3/13006 3/8600 0/4406
?/? c.360C>T r.(=) p.(=) g.139487509C>T Copied from the Exome Variant Server HECA_000009 9/13006 5/8600 4/4406
?/? c.450C>T r.(=) p.(=) g.139487599C>T Copied from the Exome Variant Server HECA_000010 1/13006 1/8600 0/4406
?/? c.604_606del r.(?) p.(Lys204del) g.139487753_139487755del Copied from the Exome Variant Server HECA_000011 11/12512 7/8252 4/4260
?/? c.656C>T r.(?) p.(Ala219Val) g.139487805C>T Copied from the Exome Variant Server HECA_000012 1/13006 0/8600 1/4406
?/? c.687T>C r.(=) p.(=) g.139487836T>C Copied from the Exome Variant Server HECA_000013 9493/13000 5737/8598 3756/4402
?/? c.780C>T r.(=) p.(=) g.139487929C>T Copied from the Exome Variant Server HECA_000014 1/13004 1/8598 0/4406
?/? c.835A>G r.(?) p.(Ile279Val) g.139487984A>G Copied from the Exome Variant Server HECA_000015 1/13004 1/8600 0/4404
?/? c.838C>T r.(?) p.(Leu280Phe) g.139487987C>T Copied from the Exome Variant Server HECA_000016 1/13002 0/8600 1/4402
?/? c.858C>T r.(=) p.(=) g.139488007C>T Copied from the Exome Variant Server HECA_000017 4/13002 0/8600 4/4402
?/? c.880C>T r.(?) p.(Leu294Phe) g.139488029C>T Copied from the Exome Variant Server HECA_000018 1/13000 0/8596 1/4404
?/? c.882C>T r.(=) p.(=) g.139488031C>T Copied from the Exome Variant Server HECA_000019 13/13000 1/8596 12/4404
?/? c.900C>T r.(=) p.(=) g.139488049C>T Copied from the Exome Variant Server HECA_000020 1/13002 1/8598 0/4404
?/? c.957T>C r.(=) p.(=) g.139488106T>C Copied from the Exome Variant Server HECA_000021 1/13004 1/8598 0/4406
?/? c.981G>T r.(=) p.(=) g.139488130G>T Copied from the Exome Variant Server HECA_000022 1/13004 1/8600 0/4404
?/? c.999G>T r.(?) p.(Arg333Ser) g.139488148G>T Copied from the Exome Variant Server HECA_000023 1/13006 1/8600 0/4406
?/? c.1000G>A r.(?) p.(Gly334Arg) g.139488149G>A Copied from the Exome Variant Server HECA_000025 2/13006 0/8600 2/4406
?/? c.1005A>G r.(=) p.(=) g.139488154A>G Copied from the Exome Variant Server HECA_000027 33/13006 30/8600 3/4406
?/? c.1011C>T r.(=) p.(=) g.139488160C>T Copied from the Exome Variant Server HECA_000024 707/13006 419/8600 288/4406
?/? c.1020C>T r.(=) p.(=) g.139488169C>T Copied from the Exome Variant Server HECA_000026 1/13006 0/8600 1/4406
?/? c.1036C>T r.(?) p.(Arg346Trp) g.139488185C>T Copied from the Exome Variant Server HECA_000028 1/13006 1/8600 0/4406
?/? c.1050C>T r.(=) p.(=) g.139488199C>T Copied from the Exome Variant Server HECA_000029 3/13006 0/8600 3/4406
?/? c.1125C>G r.(=) p.(=) g.139488274C>G Copied from the Exome Variant Server HECA_000030 1/13006 0/8600 1/4406
?/? c.1153C>T r.(=) p.(=) g.139488302C>T Copied from the Exome Variant Server HECA_000031 1/13006 1/8600 0/4406
?/? c.1158C>T r.(=) p.(=) g.139488307C>T Copied from the Exome Variant Server HECA_000032 7/13006 0/8600 7/4406
?/? c.1176C>T r.(=) p.(=) g.139488325C>T Copied from the Exome Variant Server HECA_000033 1/13006 0/8600 1/4406
?/? c.1211C>T r.(?) p.(Ala404Val) g.139488360C>T Copied from the Exome Variant Server HECA_000034 1/13006 0/8600 1/4406
?/? c.1212G>A r.(=) p.(=) g.139488361G>A Copied from the Exome Variant Server HECA_000035 1/13006 0/8600 1/4406
?/? c.1218G>A r.(=) p.(=) g.139488367G>A Copied from the Exome Variant Server HECA_000036 1/13006 1/8600 0/4406
?/? c.1269G>A r.(=) p.(=) g.139488418G>A Copied from the Exome Variant Server HECA_000037 1/13006 1/8600 0/4406
?/? c.1309C>G r.(?) p.(Gln437Glu) g.139488458C>G Copied from the Exome Variant Server HECA_000038 1/13006 0/8600 1/4406
?/? c.1312+52A>G r.(=) p.(=) g.139488513A>G Copied from the Exome Variant Server HECA_000039 1/7216 0/4580 1/2636
?/? c.1313-21C>T r.(=) p.(=) g.139495501C>T Copied from the Exome Variant Server HECA_000040 1/13006 0/8600 1/4406
?/? c.1313-20C>T r.(=) p.(=) g.139495502C>T Copied from the Exome Variant Server HECA_000041 1/13006 0/8600 1/4406
?/? c.1313-8G>T r.(=) p.(=) g.139495514G>T Copied from the Exome Variant Server HECA_000042 1/13006 0/8600 1/4406
?/? c.1335C>T r.(=) p.(=) g.139495544C>T Copied from the Exome Variant Server HECA_000043 2/13006 0/8600 2/4406
?/? c.1394G>A r.(?) p.(Arg465Gln) g.139495603G>A Copied from the Exome Variant Server HECA_000044 1/13006 1/8600 0/4406
?/? c.1426A>G r.(?) p.(Met476Val) g.139495635A>G Copied from the Exome Variant Server HECA_000045 1/13006 0/8600 1/4406
?/? c.1438G>A r.(?) p.(Asp480Asn) g.139495647G>A Copied from the Exome Variant Server HECA_000046 1/13006 1/8600 0/4406
?/? c.1449T>C r.(=) p.(=) g.139495658T>C Copied from the Exome Variant Server HECA_000047 7/13006 0/8600 7/4406
?/? c.1467+28G>A r.(=) p.(=) g.139495704G>A Copied from the Exome Variant Server HECA_000048 1/13006 1/8600 0/4406
?/? c.1468-7C>A r.(=) p.(=) g.139498071C>A Copied from the Exome Variant Server HECA_000049 1/13006 0/8600 1/4406
?/? c.1468-4C>G r.spl? p.? g.139498074C>G Copied from the Exome Variant Server HECA_000050 1/13006 1/8600 0/4406
?/? c.1548C>T r.(=) p.(=) g.139498158C>T Copied from the Exome Variant Server HECA_000051 1/13006 0/8600 1/4406
?/? c.1629T>C r.(=) p.(=) g.139498239T>C Copied from the Exome Variant Server HECA_000052 1/13006 1/8600 0/4406
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