Full data view for gene SAC3D1

Information The variants shown are described using the NM_013299.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.88C>T r.(?) p.(His30Tyr) g.64808852C>T Copied from the Exome Variant Server SAC3D1_000001 14/6346 0/4570 14/1776 - - - - - - -
?/? c.280C>T r.(?) p.(Arg94Cys) g.64809044C>T Copied from the Exome Variant Server SAC3D1_000002 2049/9150 1375/6228 674/2922 - - - - - - -
?/? c.297C>T r.(=) p.(=) g.64809061C>T Copied from the Exome Variant Server SAC3D1_000003 169/8954 3/6096 166/2858 - - - - - - -
?/? c.326T>G r.(?) p.(Leu109Arg) g.64809090T>G Copied from the Exome Variant Server SAC3D1_000004 8327/8338 5685/5686 2642/2652 - - - - - - -
?/? c.369T>G r.(=) p.(=) g.64809133T>G Copied from the Exome Variant Server SAC3D1_000005 6358/6890 4412/4668 1946/2222 - - - - - - -
?/? c.575-3_575-2insA r.spl? p.? g.64811694_64811695insA Copied from the Exome Variant Server SAC3D1_000006 1/11316 0/7636 1/3680 - - - - - - -
?/? c.578C>G r.(?) p.(Ser193Trp) g.64811700C>G Copied from the Exome Variant Server SAC3D1_000007 1/12102 1/8138 0/3964 - - - - - - -
?/? c.579G>A r.(=) p.(=) g.64811701G>A Copied from the Exome Variant Server SAC3D1_000008 3/12270 3/8236 0/4034 - - - - - - -
?/? c.586G>T r.(?) p.(Ala196Ser) g.64811708G>T Copied from the Exome Variant Server SAC3D1_000009 1/12486 0/8368 1/4118 - - - - - - -
?/? c.624C>T r.(=) p.(=) g.64811746C>T Copied from the Exome Variant Server SAC3D1_000010 1/12692 1/8464 0/4228 - - - - - - -
?/? c.632C>T r.(?) p.(Pro211Leu) g.64811754C>T Copied from the Exome Variant Server SAC3D1_000011 1/12696 0/8458 1/4238 - - - - - - -
?/? c.633G>A r.(=) p.(=) g.64811755G>A Copied from the Exome Variant Server SAC3D1_000012 6/12680 1/8446 5/4234 - - - - - - -
?/? c.680A>G r.(?) p.(Asn227Ser) g.64811802A>G Copied from the Exome Variant Server SAC3D1_000013 2/12706 1/8470 1/4236 - - - - - - -
?/? c.691C>T r.(=) p.(=) g.64811813C>T Copied from the Exome Variant Server SAC3D1_000014 1/12716 1/8478 0/4238 - - - - - - -
?/? c.708G>A r.(=) p.(=) g.64811830G>A Copied from the Exome Variant Server SAC3D1_000015 1/12672 1/8468 0/4204 - - - - - - -
?/? c.723G>A r.(=) p.(=) g.64811845G>A Copied from the Exome Variant Server SAC3D1_000016 1/12660 1/8468 0/4192 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.64811854C>T Copied from the Exome Variant Server SAC3D1_000017 10/12650 6/8456 4/4194 - - - - - - -
?/? c.741_742del r.(?) p.(Cys248Profs*18) g.64811863_64811864del Copied from the Exome Variant Server SAC3D1_000018 7/12104 3/8088 4/4016 - - - - - - -
?/? c.758C>T r.(?) p.(Ala253Val) g.64811880C>T Copied from the Exome Variant Server SAC3D1_000019 1/12594 0/8418 1/4176 - - - - - - -
?/? c.763C>T r.(?) p.(Arg255Trp) g.64811885C>T Copied from the Exome Variant Server SAC3D1_000020 1/12542 0/8396 1/4146 - - - - - - -
?/? c.764G>A r.(?) p.(Arg255Gln) g.64811886G>A Copied from the Exome Variant Server SAC3D1_000021 1/12544 0/8400 1/4144 - - - - - - -
?/? c.778C>T r.(?) p.(Arg260Cys) g.64811900C>T Copied from the Exome Variant Server SAC3D1_000022 95/12516 87/8396 8/4120 - - - - - - -
?/? c.783C>T r.(=) p.(=) g.64811905C>T Copied from the Exome Variant Server SAC3D1_000023 1/12482 1/8382 0/4100 - - - - - - -
?/? c.787C>T r.(?) p.(Arg263Cys) g.64811909C>T Copied from the Exome Variant Server SAC3D1_000024 1/12472 0/8372 1/4100 - - - - - - -
?/? c.788G>A r.(?) p.(Arg263His) g.64811910G>A Copied from the Exome Variant Server SAC3D1_000025 1/12440 0/8362 1/4078 - - - - - - -
?/? c.829T>A r.(?) p.(Phe277Ile) g.64811951T>A Copied from the Exome Variant Server SAC3D1_000026 58/12288 51/8310 7/3978 - - - - - - -
?/? c.871C>T r.(?) p.(Arg291Trp) g.64811993C>T Copied from the Exome Variant Server SAC3D1_000027 1/12314 1/8316 0/3998 - - - - - - -
?/? c.872G>A r.(?) p.(Arg291Gln) g.64811994G>A Copied from the Exome Variant Server SAC3D1_000028 9/12332 0/8320 9/4012 - - - - - - -
?/? c.873G>A r.(=) p.(=) g.64811995G>A Copied from the Exome Variant Server SAC3D1_000029 1/12338 0/8322 1/4016 - - - - - - -
?/? c.906C>T r.(=) p.(=) g.64812028C>T Copied from the Exome Variant Server SAC3D1_000030 1/12412 1/8328 0/4084 - - - - - - -
?/? c.942C>G r.(?) p.(Tyr314*) g.64812064C>G Copied from the Exome Variant Server SAC3D1_000031 1/12600 1/8394 0/4206 - - - - - - -
?/? c.943G>A r.(?) p.(Val315Met) g.64812065G>A Copied from the Exome Variant Server SAC3D1_000032 1/12610 1/8404 0/4206 - - - - - - -
?/? c.971C>T r.(?) p.(Thr324Met) g.64812093C>T Copied from the Exome Variant Server SAC3D1_000033 1/12668 1/8438 0/4230 - - - - - - -
?/? c.978G>A r.(=) p.(=) g.64812100G>A Copied from the Exome Variant Server SAC3D1_000034 1/12712 0/8450 1/4262 - - - - - - -
?/? c.1006C>T r.(?) p.(Arg336Cys) g.64812128C>T Copied from the Exome Variant Server SAC3D1_000035 1/12726 1/8446 0/4280 - - - - - - -
?/? c.1033G>A r.(?) p.(Glu345Lys) g.64812155G>A Copied from the Exome Variant Server SAC3D1_000036 21/12702 18/8450 3/4252 - - - - - - -
?/? c.1051A>G r.(?) p.(Thr351Ala) g.64812173A>G Copied from the Exome Variant Server SAC3D1_000037 7/12666 0/8438 7/4228 - - - - - - -
?/? c.1068C>T r.(=) p.(=) g.64812190C>T Copied from the Exome Variant Server SAC3D1_000038 1/12562 1/8388 0/4174 - - - - - - -
?/? c.*33C>A r.(=) p.(=) g.64812232C>A Copied from the Exome Variant Server SAC3D1_000039 6/12146 0/8254 6/3892 - - - - - - -
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