Unique variants in gene FAM3A

Information The variants shown are described using the NM_001171132.1 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-11G>A r.(=) p.(=) g.153744107C>T Copied from the Exome Variant Server FAM3A_000034 1/10563 1/6728 0/3835
1 c.13+31G>A r.(=) p.(=) g.153744053C>T Copied from the Exome Variant Server FAM3A_000033 1/10563 0/6728 1/3835
1 c.13+40G>C r.(=) p.(=) g.153744044C>G Copied from the Exome Variant Server FAM3A_000032 77/10563 71/6728 6/3835
1 c.13+65G>A r.(=) p.(=) g.153744019C>T Copied from the Exome Variant Server FAM3A_000031 1/3600 0/2391 1/1209
1 c.14-46C>T r.(=) p.(=) g.153741306G>A Copied from the Exome Variant Server FAM3A_000030 1/10560 1/6726 0/3834
1 c.14-45G>A r.(=) p.(=) g.153741305C>T Copied from the Exome Variant Server FAM3A_000037 3/10560 3/6726 0/3834
1 c.14-44C>G r.(=) p.(=) g.153741304G>C Copied from the Exome Variant Server FAM3A_000036 1/10560 1/6726 0/3834
1 c.14-11C>T r.(=) p.(=) g.153741271G>A Copied from the Exome Variant Server FAM3A_000035 1/10563 0/6728 1/3835
1 c.62T>G r.(?) p.(Ile21Ser) g.153741212A>C Copied from the Exome Variant Server FAM3A_000060 1/10563 0/6728 1/3835
1 c.65T>C r.(?) p.(Val22Ala) g.153741209A>G Copied from the Exome Variant Server FAM3A_000059 1/10563 0/6728 1/3835
1 c.107G>A r.(?) p.(Arg36His) g.153741167C>T Copied from the Exome Variant Server FAM3A_000058 1/10563 1/6728 0/3835
1 c.127+16C>T r.(=) p.(=) g.153741131G>A Copied from the Exome Variant Server FAM3A_000057 1/10563 1/6728 0/3835
1 c.127+19del r.(=) p.(=) g.153741128del Copied from the Exome Variant Server FAM3A_000056 34/10205 19/6484 15/3721
1 c.127+37C>T r.(=) p.(=) g.153741110G>A Copied from the Exome Variant Server FAM3A_000055 1/10563 1/6728 0/3835
1 c.128-49G>A r.(=) p.(=) g.153740253C>T Copied from the Exome Variant Server FAM3A_000054 1/10563 0/6728 1/3835
1 c.128-41C>T r.(=) p.(=) g.153740245G>A Copied from the Exome Variant Server FAM3A_000053 7/10563 0/6728 7/3835
1 c.131C>G r.(?) p.(Pro44Arg) g.153740201G>C Copied from the Exome Variant Server FAM3A_000052 2/10563 0/6728 2/3835
1 c.151+3A>G r.spl? p.? g.153740178T>C Copied from the Exome Variant Server FAM3A_000051 1/10563 1/6728 0/3835
1 c.152C>T r.(?) p.(Ala51Val) g.153736928G>A Copied from the Exome Variant Server FAM3A_000050 1/10521 0/6704 1/3817
1 c.157C>T r.(?) p.(Arg53Trp) g.153736923G>A Copied from the Exome Variant Server FAM3A_000049 1/10532 0/6711 1/3821
1 c.158G>A r.(?) p.(Arg53Gln) g.153736922C>T Copied from the Exome Variant Server FAM3A_000025 1/10533 1/6712 0/3821
1 c.219C>T r.(=) p.(=) g.153736861G>A Copied from the Exome Variant Server FAM3A_000024 1/10562 0/6728 1/3834
1 c.264C>T r.(=) p.(=) g.153736816G>A Copied from the Exome Variant Server FAM3A_000023 3/10563 3/6728 0/3835
1 c.276-37T>C r.(=) p.(=) g.153736715A>G Copied from the Exome Variant Server FAM3A_000022 1/10510 1/6696 0/3814
1 c.276-16del r.(=) p.(=) g.153736694del Copied from the Exome Variant Server FAM3A_000021 306/9151 207/5838 99/3313
1 c.287G>A r.(?) p.(Ser96Asn) g.153736667C>T Copied from the Exome Variant Server FAM3A_000020 1/9806 0/6261 1/3545
1 c.289G>A r.(?) p.(Val97Ile) g.153736665C>T Copied from the Exome Variant Server FAM3A_000019 2/9781 0/6235 2/3546
1 c.300C>T r.(=) p.(=) g.153736654G>A Copied from the Exome Variant Server FAM3A_000018 2/9698 0/6175 2/3523
1 c.309C>T r.(=) p.(=) g.153736645G>A Copied from the Exome Variant Server FAM3A_000017 1/9606 0/6107 1/3499
1 c.333C>T r.(=) p.(=) g.153736621G>A Copied from the Exome Variant Server FAM3A_000016 1/9389 0/5959 1/3430
1 c.342C>T r.(=) p.(=) g.153736185G>A Copied from the Exome Variant Server FAM3A_000015 2/10485 2/6674 0/3811
1 c.354C>T r.(=) p.(=) g.153736173G>A Copied from the Exome Variant Server FAM3A_000014 4/10504 4/6695 0/3809
1 c.385+12C>T r.(=) p.(=) g.153736130G>A Copied from the Exome Variant Server FAM3A_000013 4/10487 4/6688 0/3799
1 c.385+17C>T r.(=) p.(=) g.153736125G>A Copied from the Exome Variant Server FAM3A_000012 60/10476 0/6680 60/3796
1 c.386-32T>C r.(=) p.(=) g.153735853A>G Copied from the Exome Variant Server FAM3A_000011 3/10554 3/6721 0/3833
1 c.386-3_386-2insC r.spl? p.? g.153735823_153735824insG Copied from the Exome Variant Server FAM3A_000010 32/10200 9/6479 23/3721
1 c.392A>G r.(?) p.(Asn131Ser) g.153735815T>C Copied from the Exome Variant Server FAM3A_000009 1/10561 0/6727 1/3834
1 c.393C>T r.(=) p.(=) g.153735814G>A Copied from the Exome Variant Server FAM3A_000008 29/10561 26/6727 3/3834
1 c.441C>T r.(=) p.(=) g.153735766G>A Copied from the Exome Variant Server FAM3A_000007 7/10563 5/6728 2/3835
1 c.456C>T r.(=) p.(=) g.153735751G>A Copied from the Exome Variant Server FAM3A_000006 1/10563 1/6728 0/3835
1 c.470+19C>T r.(=) p.(=) g.153735718G>A Copied from the Exome Variant Server FAM3A_000005 9/10563 6/6728 3/3835
1 c.471-27C>G r.(=) p.(=) g.153735687G>C Copied from the Exome Variant Server FAM3A_000004 1/10563 1/6728 0/3835
1 c.477T>C r.(=) p.(=) g.153735654A>G Copied from the Exome Variant Server FAM3A_000003 2/10563 0/6728 2/3835
1 c.519C>T r.(=) p.(=) g.153735612G>A Copied from the Exome Variant Server FAM3A_000002 1/10563 0/6728 1/3835
1 c.558C>T r.(=) p.(=) g.153735573G>A Copied from the Exome Variant Server FAM3A_000001 2/10562 1/6728 1/3834
1 c.597+3_597+4insA r.spl? p.? g.153735530_153735531insT Copied from the Exome Variant Server FAM3A_000048 2/10180 1/6468 1/3712
1 c.597+23C>T r.(=) p.(=) g.153735511G>A Copied from the Exome Variant Server FAM3A_000047 1/10474 1/6667 0/3807
1 c.597+30C>T r.(=) p.(=) g.153735504G>A Copied from the Exome Variant Server FAM3A_000046 7/10452 6/6655 1/3797
1 c.597+31G>A r.(=) p.(=) g.153735503C>T Copied from the Exome Variant Server FAM3A_000045 1/10439 1/6647 0/3792
1 c.597+35_597+36insC r.(=) p.(=) g.153735498_153735499insG Copied from the Exome Variant Server FAM3A_000044 120/10034 73/6368 47/3666
1 c.598-35G>A r.(=) p.(=) g.153735272C>T Copied from the Exome Variant Server FAM3A_000043 2/10557 2/6725 0/3832
1 c.598-25T>G r.(=) p.(=) g.153735262A>C Copied from the Exome Variant Server FAM3A_000042 7/10560 1/6726 6/3834
1 c.598-19T>C r.(=) p.(=) g.153735256A>G Copied from the Exome Variant Server FAM3A_000041 1/10560 0/6726 1/3834
1 c.598-3C>T r.spl? p.? g.153735240G>A Copied from the Exome Variant Server FAM3A_000040 1/10563 0/6728 1/3835
1 c.600C>T r.(=) p.(=) g.153735235G>A Copied from the Exome Variant Server FAM3A_000039 2/10563 0/6728 2/3835
1 c.609C>T r.(=) p.(=) g.153735226G>A Copied from the Exome Variant Server FAM3A_000038 1/10563 1/6728 0/3835
1 c.630C>T r.(=) p.(=) g.153735205G>A Copied from the Exome Variant Server FAM3A_000067 4/10563 1/6728 3/3835
1 c.642C>T r.(=) p.(=) g.153735193G>A Copied from the Exome Variant Server FAM3A_000066 1/10563 0/6728 1/3835
1 c.647C>T r.(?) p.(Ala216Val) g.153735188G>A Copied from the Exome Variant Server FAM3A_000065 2/10563 1/6728 1/3835
1 c.648G>A r.(=) p.(=) g.153735187C>T Copied from the Exome Variant Server FAM3A_000064 1/10563 1/6728 0/3835
1 c.663C>G r.(=) p.(=) g.153735172G>C Copied from the Exome Variant Server FAM3A_000063 1/10563 1/6728 0/3835
1 c.*13C>A r.(=) p.(=) g.153735129G>T Copied from the Exome Variant Server FAM3A_000062 1/10563 0/6728 1/3835
1 c.*19C>T r.(=) p.(=) g.153735123G>A Copied from the Exome Variant Server FAM3A_000061 5/10563 2/6728 3/3835
1 c.*45A>G r.(=) p.(=) g.153735097T>C Copied from the Exome Variant Server FAM3A_000029 1/10554 1/6722 0/3832
1 c.*50C>T r.(=) p.(=) g.153735092G>A Copied from the Exome Variant Server FAM3A_000028 1/10548 0/6718 1/3830
1 c.*52C>T r.(=) p.(=) g.153735090G>A Copied from the Exome Variant Server FAM3A_000027 1/8112 1/5490 0/2622
1 c.*53G>A r.(=) p.(=) g.153735089C>T Copied from the Exome Variant Server FAM3A_000026 5/3599 0/2390 5/1209
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