Full data view for gene FAM83F

Information The variants shown are described using the NM_138435.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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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.324G>C r.(?) p.(Trp108Cys) g.40391370G>C Copied from the Exome Variant Server FAM83F_000001 8/10358 0/7126 8/3232 - - - - - - -
?/? c.399C>T r.(=) p.(=) g.40391445C>T Copied from the Exome Variant Server FAM83F_000002 1/12242 1/8232 0/4010 - - - - - - -
?/? c.490-48G>C r.(=) p.(=) g.40415124G>C Copied from the Exome Variant Server FAM83F_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.490-38A>G r.(=) p.(=) g.40415134A>G Copied from the Exome Variant Server FAM83F_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.490-32C>T r.(=) p.(=) g.40415140C>T Copied from the Exome Variant Server FAM83F_000005 3790/13006 2495/8600 1295/4406 - - - - - - -
?/? c.490-31G>A r.(=) p.(=) g.40415141G>A Copied from the Exome Variant Server FAM83F_000006 13/13006 0/8600 13/4406 - - - - - - -
?/? c.490-14C>A r.(=) p.(=) g.40415158C>A Copied from the Exome Variant Server FAM83F_000007 36/13006 0/8600 36/4406 - - - - - - -
?/? c.490-4C>T r.spl? p.? g.40415168C>T Copied from the Exome Variant Server FAM83F_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.516C>T r.(=) p.(=) g.40415198C>T Copied from the Exome Variant Server FAM83F_000009 2/13006 0/8600 2/4406 - - - - - - -
?/? c.544G>A r.(?) p.(Val182Met) g.40415226G>A Copied from the Exome Variant Server FAM83F_000010 3/13006 3/8600 0/4406 - - - - - - -
?/? c.557G>A r.(?) p.(Cys186Tyr) g.40415239G>A Copied from the Exome Variant Server FAM83F_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.565C>T r.(?) p.(Arg189Trp) g.40415247C>T Copied from the Exome Variant Server FAM83F_000012 5/13006 2/8600 3/4406 - - - - - - -
?/? c.566G>A r.(?) p.(Arg189Gln) g.40415248G>A Copied from the Exome Variant Server FAM83F_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.591C>T r.(=) p.(=) g.40415273C>T Copied from the Exome Variant Server FAM83F_000014 5/13006 0/8600 5/4406 - - - - - - -
?/? c.641C>T r.(?) p.(Thr214Ile) g.40415323C>T Copied from the Exome Variant Server FAM83F_000015 11/13006 0/8600 11/4406 - - - - - - -
?/? c.649C>T r.(?) p.(Arg217Trp) g.40415331C>T Copied from the Exome Variant Server FAM83F_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.655C>T r.(?) p.(Arg219Trp) g.40415337C>T Copied from the Exome Variant Server FAM83F_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.657+19_657+25del r.(=) p.(=) g.40415358_40415364del Copied from the Exome Variant Server FAM83F_000018 38/12512 0/8250 38/4262 - - - - - - -
?/? c.657+23A>G r.(=) p.(=) g.40415362A>G Copied from the Exome Variant Server FAM83F_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.657+48_657+50del r.(=) p.(=) g.40415387_40415389del Copied from the Exome Variant Server FAM83F_000020 1/12512 1/8250 0/4262 - - - - - - -
?/? c.658-49C>T r.(=) p.(=) g.40415842C>T Copied from the Exome Variant Server FAM83F_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.658-48G>A r.(=) p.(=) g.40415843G>A Copied from the Exome Variant Server FAM83F_000022 4/13006 1/8600 3/4406 - - - - - - -
?/? c.658-17T>C r.(=) p.(=) g.40415874T>C Copied from the Exome Variant Server FAM83F_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.665G>A r.(?) p.(Arg222His) g.40415898G>A Copied from the Exome Variant Server FAM83F_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.670C>T r.(?) p.(Arg224Cys) g.40415903C>T Copied from the Exome Variant Server FAM83F_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.687C>T r.(=) p.(=) g.40415920C>T Copied from the Exome Variant Server FAM83F_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.698T>C r.(?) p.(Met233Thr) g.40415931T>C Copied from the Exome Variant Server FAM83F_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.702C>T r.(=) p.(=) g.40415935C>T Copied from the Exome Variant Server FAM83F_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.720G>T r.(=) p.(=) g.40415953G>T Copied from the Exome Variant Server FAM83F_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.735G>T r.(?) p.(Arg245Ser) g.40415968G>T Copied from the Exome Variant Server FAM83F_000030 150/13006 1/8600 149/4406 - - - - - - -
?/? c.746_747insGG r.(?) p.(Asp250Glyfs*28) g.40415979_40415980insGG Copied from the Exome Variant Server FAM83F_000031 1/12518 1/8254 0/4264 - - - - - - -
?/? c.755A>G r.(?) p.(Asp252Gly) g.40415988A>G Copied from the Exome Variant Server FAM83F_000032 51/13006 0/8600 51/4406 - - - - - - -
?/? c.757A>G r.(?) p.(Lys253Glu) g.40415990A>G Copied from the Exome Variant Server FAM83F_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.779+11C>T r.(=) p.(=) g.40416023C>T Copied from the Exome Variant Server FAM83F_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.779+13G>A r.(=) p.(=) g.40416025G>A Copied from the Exome Variant Server FAM83F_000035 991/13006 24/8600 967/4406 - - - - - - -
?/? c.780-40T>A r.(=) p.(=) g.40417254T>A Copied from the Exome Variant Server FAM83F_000036 1/12832 1/8524 0/4308 - - - - - - -
?/? c.848C>G r.(?) p.(Pro283Arg) g.40417362C>G Copied from the Exome Variant Server FAM83F_000037 3/13006 0/8600 3/4406 - - - - - - -
?/? c.858G>A r.(=) p.(=) g.40417372G>A Copied from the Exome Variant Server FAM83F_000038 11/13006 3/8600 8/4406 - - - - - - -
?/? c.885C>T r.(=) p.(=) g.40417399C>T Copied from the Exome Variant Server FAM83F_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.904C>T r.(?) p.(Arg302Trp) g.40417418C>T Copied from the Exome Variant Server FAM83F_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.909G>A r.(=) p.(=) g.40417423G>A Copied from the Exome Variant Server FAM83F_000041 3/13006 2/8600 1/4406 - - - - - - -
?/? c.920C>T r.(?) p.(Ala307Val) g.40417434C>T Copied from the Exome Variant Server FAM83F_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.921G>A r.(=) p.(=) g.40417435G>A Copied from the Exome Variant Server FAM83F_000043 3/13006 2/8600 1/4406 - - - - - - -
?/? c.932G>A r.(?) p.(Gly311Asp) g.40417446G>A Copied from the Exome Variant Server FAM83F_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.981C>T r.(=) p.(=) g.40417495C>T Copied from the Exome Variant Server FAM83F_000045 191/13006 3/8600 188/4406 - - - - - - -
?/? c.982G>A r.(?) p.(Ala328Thr) g.40417496G>A Copied from the Exome Variant Server FAM83F_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1000C>T r.(?) p.(Arg334Cys) g.40417514C>T Copied from the Exome Variant Server FAM83F_000047 13/13004 9/8600 4/4404 - - - - - - -
?/? c.1036C>T r.(?) p.(Arg346Trp) g.40417550C>T Copied from the Exome Variant Server FAM83F_000048 1/12984 0/8582 1/4402 - - - - - - -
?/? c.1046G>A r.(?) p.(Arg349Gln) g.40417560G>A Copied from the Exome Variant Server FAM83F_000049 1/12976 1/8580 0/4396 - - - - - - -
?/? c.1057G>A r.(?) p.(Gly353Ser) g.40417571G>A Copied from the Exome Variant Server FAM83F_000050 615/12958 568/8568 47/4390 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.40417603C>T Copied from the Exome Variant Server FAM83F_000051 5/12992 2/8590 3/4402 - - - - - - -
?/? c.1090G>A r.(?) p.(Gly364Ser) g.40417604G>A Copied from the Exome Variant Server FAM83F_000052 7/12994 6/8590 1/4404 - - - - - - -
?/? c.1100C>T r.(?) p.(Ser367Leu) g.40417614C>T Copied from the Exome Variant Server FAM83F_000053 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1101G>A r.(=) p.(=) g.40417615G>A Copied from the Exome Variant Server FAM83F_000054 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1139C>T r.(?) p.(Thr380Met) g.40417653C>T Copied from the Exome Variant Server FAM83F_000055 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1169C>T r.(?) p.(Pro390Leu) g.40417683C>T Copied from the Exome Variant Server FAM83F_000056 6/13004 0/8600 6/4404 - - - - - - -
?/? c.1224C>T r.(=) p.(=) g.40417738C>T Copied from the Exome Variant Server FAM83F_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1247G>A r.(?) p.(Arg416Gln) g.40417761G>A Copied from the Exome Variant Server FAM83F_000058 2/13002 2/8598 0/4404 - - - - - - -
?/? c.1261C>T r.(?) p.(Arg421*) g.40417775C>T Copied from the Exome Variant Server FAM83F_000059 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1262G>A r.(?) p.(Arg421Gln) g.40417776G>A Copied from the Exome Variant Server FAM83F_000060 6/12996 1/8594 5/4402 - - - - - - -
?/? c.1266C>T r.(=) p.(=) g.40417780C>T Copied from the Exome Variant Server FAM83F_000061 3964/12996 2483/8596 1481/4400 - - - - - - -
?/? c.1271T>C r.(?) p.(Met424Thr) g.40417785T>C Copied from the Exome Variant Server FAM83F_000062 3/12998 0/8596 3/4402 - - - - - - -
?/? c.1280C>T r.(?) p.(Ala427Val) g.40417794C>T Copied from the Exome Variant Server FAM83F_000063 37/12992 1/8594 36/4398 - - - - - - -
?/? c.1282G>C r.(?) p.(Ala428Pro) g.40417796G>C Copied from the Exome Variant Server FAM83F_000064 1/12992 0/8592 1/4400 - - - - - - -
?/? c.1285C>T r.(?) p.(Arg429Trp) g.40417799C>T Copied from the Exome Variant Server FAM83F_000065 2/12992 2/8594 0/4398 - - - - - - -
?/? c.1286G>C r.(?) p.(Arg429Pro) g.40417800G>C Copied from the Exome Variant Server FAM83F_000066 5/12996 0/8596 5/4400 - - - - - - -
?/? c.1306A>G r.(?) p.(Arg436Gly) g.40417820A>G Copied from the Exome Variant Server FAM83F_000067 3596/12994 2403/8594 1193/4400 - - - - - - -
?/? c.1309C>T r.(?) p.(Arg437Cys) g.40417823C>T Copied from the Exome Variant Server FAM83F_000068 1/12994 1/8592 0/4402 - - - - - - -
?/? c.1356G>A r.(=) p.(=) g.40417870G>A Copied from the Exome Variant Server FAM83F_000069 1/12892 0/8550 1/4342 - - - - - - -
?/? c.1361A>G r.(?) p.(Asn454Ser) g.40417875A>G Copied from the Exome Variant Server FAM83F_000070 1/12876 0/8534 1/4342 - - - - - - -
?/? c.1387G>A r.(?) p.(Glu463Lys) g.40417901G>A Copied from the Exome Variant Server FAM83F_000071 3/12738 0/8494 3/4244 - - - - - - -
?/? c.1399G>T r.(?) p.(Val467Leu) g.40417913G>T Copied from the Exome Variant Server FAM83F_000072 1/12672 1/8458 0/4214 - - - - - - -
?/? c.1413G>A r.(=) p.(=) g.40417927G>A Copied from the Exome Variant Server FAM83F_000073 4/12640 4/8436 0/4204 - - - - - - -
?/? c.1429G>A r.(?) p.(Glu477Lys) g.40417943G>A Copied from the Exome Variant Server FAM83F_000074 56/12594 51/8428 5/4166 - - - - - - -
?/? c.1450T>C r.(?) p.(Ser484Pro) g.40417964T>C Copied from the Exome Variant Server FAM83F_000075 3/12524 3/8414 0/4110 - - - - - - -
?/? c.1454-44G>A r.(=) p.(=) g.40425476G>A Copied from the Exome Variant Server FAM83F_000076 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1454-38C>T r.(=) p.(=) g.40425482C>T Copied from the Exome Variant Server FAM83F_000077 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1454-23G>A r.(=) p.(=) g.40425497G>A Copied from the Exome Variant Server FAM83F_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1469G>A r.(?) p.(Ser490Asn) g.40425535G>A Copied from the Exome Variant Server FAM83F_000079 2/13006 1/8600 1/4406 - - - - - - -
?/? c.*25C>T r.(=) p.(=) g.40425594C>T Copied from the Exome Variant Server FAM83F_000080 54/13006 0/8600 54/4406 - - - - - - -
?/? c.*56T>C r.(=) p.(=) g.40425625T>C Copied from the Exome Variant Server FAM83F_000081 129/4566 1/3182 128/1384 - - - - - - -
?/? c.*68A>G r.(=) p.(=) g.40425637A>G Copied from the Exome Variant Server FAM83F_000082 1/4566 1/3182 0/1384 - - - - - - -
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