Unique variants in gene FAM9A

Information The variants shown are described using the NM_174951.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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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.57T>C r.(=) p.(=) g.8768156A>G Copied from the Exome Variant Server FAM9A_000078 1/10552 0/6721 1/3831
1 c.80C>T r.(?) p.(Ala27Val) g.8768133G>A Copied from the Exome Variant Server FAM9A_000077 1/10553 1/6721 0/3832
1 c.84G>A r.(=) p.(=) g.8768129C>T Copied from the Exome Variant Server FAM9A_000076 1/10553 1/6721 0/3832
1 c.91+7G>A r.(=) p.(=) g.8768115C>T Copied from the Exome Variant Server FAM9A_000075 1/10553 0/6721 1/3832
1 c.91+12A>G r.(=) p.(=) g.8768110T>C Copied from the Exome Variant Server FAM9A_000074 1/10553 0/6721 1/3832
1 c.91+27T>C r.(=) p.(=) g.8768095A>G Copied from the Exome Variant Server FAM9A_000073 6/10548 0/6719 6/3829
1 c.91+42G>A r.(=) p.(=) g.8768080C>T Copied from the Exome Variant Server FAM9A_000072 90/10540 0/6719 90/3821
1 c.91+46A>G r.(=) p.(=) g.8768076T>C Copied from the Exome Variant Server FAM9A_000071 1/10539 0/6718 1/3821
1 c.98G>A r.(?) p.(Gly33Glu) g.8767129C>T Copied from the Exome Variant Server FAM9A_000070 2/10524 2/6691 0/3833
1 c.174T>C r.(=) p.(=) g.8767053A>G Copied from the Exome Variant Server FAM9A_000069 1/10563 0/6728 1/3835
1 c.185C>T r.(?) p.(Ala62Val) g.8767042G>A Copied from the Exome Variant Server FAM9A_000068 1/10563 0/6728 1/3835
1 c.195G>A r.(=) p.(=) g.8767032C>T Copied from the Exome Variant Server FAM9A_000067 6/10563 0/6728 6/3835
1 c.199G>A r.(?) p.(Ala67Thr) g.8767028C>T Copied from the Exome Variant Server FAM9A_000066 2/10563 0/6728 2/3835
1 c.203C>G r.(?) p.(Pro68Arg) g.8767024G>C Copied from the Exome Variant Server FAM9A_000065 2/10563 2/6728 0/3835
1 c.209A>G r.(?) p.(Lys70Arg) g.8767018T>C Copied from the Exome Variant Server FAM9A_000064 12/10563 2/6728 10/3835
1 c.220+38G>A r.(=) p.(=) g.8766969C>T Copied from the Exome Variant Server FAM9A_000063 13/10563 0/6728 13/3835
1 c.220+41C>G r.(=) p.(=) g.8766966G>C Copied from the Exome Variant Server FAM9A_000062 508/10563 138/6728 370/3835
1 c.221-43C>A r.(=) p.(=) g.8766563G>T Copied from the Exome Variant Server FAM9A_000061 1/10563 1/6728 0/3835
1 c.221-42G>A r.(=) p.(=) g.8766562C>T Copied from the Exome Variant Server FAM9A_000060 1/10563 1/6728 0/3835
1 c.238G>A r.(?) p.(Asp80Asn) g.8766503C>T Copied from the Exome Variant Server FAM9A_000059 304/10563 62/6728 242/3835
1 c.241G>A r.(?) p.(Glu81Lys) g.8766500C>T Copied from the Exome Variant Server FAM9A_000058 1/10563 1/6728 0/3835
1 c.260C>G r.(?) p.(Pro87Arg) g.8766481G>C Copied from the Exome Variant Server FAM9A_000057 1/10563 1/6728 0/3835
1 c.341G>C r.(?) p.(Gly114Ala) g.8766400C>G Copied from the Exome Variant Server FAM9A_000056 4/10563 0/6728 4/3835
1 c.341+19T>C r.(=) p.(=) g.8766381A>G Copied from the Exome Variant Server FAM9A_000055 5/10563 0/6728 5/3835
1 c.342-76A>G r.(=) p.(=) g.8766298T>C Copied from the Exome Variant Server FAM9A_000054 9/3600 0/2391 9/1209
1 c.342-69A>G r.(=) p.(=) g.8766291T>C Copied from the Exome Variant Server FAM9A_000053 1232/3600 855/2391 377/1209
1 c.373+20C>T r.(=) p.(=) g.8766171G>A Copied from the Exome Variant Server FAM9A_000052 2/10552 2/6722 0/3830
1 c.373+50C>G r.(=) p.(=) g.8766141G>C Copied from the Exome Variant Server FAM9A_000051 2/10508 0/6702 2/3806
1 c.374-45C>T r.(=) p.(=) g.8764468G>A Copied from the Exome Variant Server FAM9A_000050 251/10528 2/6711 249/3817
1 c.374-38_374-37insGAAA r.(=) p.(=) g.8764460_8764461insTTTC Copied from the Exome Variant Server FAM9A_000049 15/10181 1/6474 14/3707
1 c.427G>A r.(?) p.(Ala143Thr) g.8764370C>T Copied from the Exome Variant Server FAM9A_000048 37/10561 35/6726 2/3835
1 c.429A>C r.(=) p.(=) g.8764368T>G Copied from the Exome Variant Server FAM9A_000047 1/10562 1/6727 0/3835
1 c.436A>C r.(=) p.(=) g.8764361T>G Copied from the Exome Variant Server FAM9A_000046 16/10558 1/6725 15/3833
1 c.481_484del r.(?) p.(Leu161Lysfs*14) g.8764313_8764316del Copied from the Exome Variant Server FAM9A_000045 32/10198 20/6477 12/3721
1 c.489-26A>C r.(=) p.(=) g.8763487T>G Copied from the Exome Variant Server FAM9A_000044 16/10563 1/6728 15/3835
1 c.489-23G>A r.(=) p.(=) g.8763484C>T Copied from the Exome Variant Server FAM9A_000043 1/10563 0/6728 1/3835
1 c.489-13T>C r.(=) p.(=) g.8763474A>G Copied from the Exome Variant Server FAM9A_000042 1/10563 1/6728 0/3835
1 c.489-3C>T r.spl? p.? g.8763464G>A Copied from the Exome Variant Server FAM9A_000041 44/10563 41/6728 3/3835
1 c.497G>A r.(?) p.(Arg166His) g.8763453C>T Copied from the Exome Variant Server FAM9A_000040 1/10563 1/6728 0/3835
1 c.514C>T r.(?) p.(Arg172Trp) g.8763436G>A Copied from the Exome Variant Server FAM9A_000039 1/10561 1/6726 0/3835
1 c.535A>G r.(?) p.(Lys179Glu) g.8763415T>C Copied from the Exome Variant Server FAM9A_000038 1/10563 0/6728 1/3835
1 c.588C>T r.(=) p.(=) g.8763362G>A Copied from the Exome Variant Server FAM9A_000037 1/10562 1/6727 0/3835
1 c.602_604del r.(?) p.(Ala201del) g.8763346_8763348del Copied from the Exome Variant Server FAM9A_000036 103/9929 74/6303 29/3626
1 c.610_612dup r.(?) p.(Ala207dup) g.8763338_8763340dup Copied from the Exome Variant Server FAM9A_000035 61/8995 38/5735 23/3260
1 c.602_622del r.(?) p.(Ala201_Ala207del) g.8763328_8763348del Copied from the Exome Variant Server FAM9A_000034 620/8995 349/5735 271/3260
1 c.627C>T r.(=) p.(=) g.8763323G>A Copied from the Exome Variant Server FAM9A_000033 1/10526 1/6709 0/3817
1 c.628G>A r.(?) p.(Ala210Thr) g.8763322C>T Copied from the Exome Variant Server FAM9A_000032 1/10530 0/6711 1/3819
1 c.641_643del r.(?) p.(Ala214del) g.8763307_8763309del Copied from the Exome Variant Server FAM9A_000031 146/10148 98/6449 48/3699
1 c.626_646del r.(?) p.(Ala209_Glu215del) g.8763304_8763324del Copied from the Exome Variant Server FAM9A_000030 98/10132 59/6447 39/3685
1 c.694_696del r.(?) p.(Glu232del) g.8763254_8763256del Copied from the Exome Variant Server FAM9A_000029 95/9869 77/6294 18/3575
1 c.697_708del r.(?) p.(Lys233_Glu236del) g.8763242_8763253del Copied from the Exome Variant Server FAM9A_000028 62/9916 38/6314 24/3602
1 c.729del r.(?) p.(Gly244Glufs*55) g.8763221del Copied from the Exome Variant Server FAM9A_000027 37/10049 18/6399 19/3650
1 c.728_730del r.(?) p.(Glu243del) g.8763220_8763222del Copied from the Exome Variant Server FAM9A_000026 16/9977 9/6354 7/3623
1 c.722_733del r.(?) p.(Glu241_Gly244del) g.8763217_8763228del Copied from the Exome Variant Server FAM9A_000025 26/9924 16/6325 10/3599
1 c.735A>G r.(=) p.(=) g.8763215T>C Copied from the Exome Variant Server FAM9A_000024 1/10487 1/6679 0/3808
1 c.742del r.(?) p.(Glu248Lysfs*51) g.8763208del Copied from the Exome Variant Server FAM9A_000023 3/10110 3/6442 0/3668
1 c.752_754del r.(?) p.(Glu251del) g.8763196_8763198del Copied from the Exome Variant Server FAM9A_000022 129/10117 100/6446 29/3671
1 c.754G>T r.(?) p.(Gly252*) g.8763196C>A Copied from the Exome Variant Server FAM9A_000021 2/10517 2/6703 0/3814
1 c.749_757del r.(?) p.(Glu250_Gly252del) g.8763193_8763201del Copied from the Exome Variant Server FAM9A_000020 29/10089 14/6428 15/3661
1 c.767_769del r.(?) p.(Gly256del) g.8763181_8763183del Copied from the Exome Variant Server FAM9A_000019 137/10139 107/6450 30/3689
1 c.784_785del r.(?) p.(Glu262Argfs*16) g.8763165_8763166del Copied from the Exome Variant Server FAM9A_000018 5/10191 4/6480 1/3711
1 c.792_794del r.(?) p.(Glu275del) g.8763156_8763158del Copied from the Exome Variant Server FAM9A_000017 2/10194 1/6483 1/3711
1 c.807_809del r.(?) p.(Glu275del) g.8763141_8763143del Copied from the Exome Variant Server FAM9A_000016 103/10200 76/6483 27/3717
1 c.807_812del r.(?) p.(Glu274_Glu275del) g.8763138_8763143del Copied from the Exome Variant Server FAM9A_000015 84/10200 51/6483 33/3717
1 c.832-42A>G r.(=) p.(=) g.8761839T>C Copied from the Exome Variant Server FAM9A_000014 1/10563 1/6728 0/3835
1 c.832-9T>G r.(=) p.(=) g.8761806A>C Copied from the Exome Variant Server FAM9A_000013 3/10563 0/6728 3/3835
1 c.832-7C>T r.(=) p.(=) g.8761804G>A Copied from the Exome Variant Server FAM9A_000012 1/10563 1/6728 0/3835
1 c.908C>T r.(?) p.(Pro303Leu) g.8761721G>A Copied from the Exome Variant Server FAM9A_000011 1/10563 0/6728 1/3835
1 c.930+22A>C r.(=) p.(=) g.8761677T>G Copied from the Exome Variant Server FAM9A_000010 9/10563 0/6728 9/3835
1 c.930+43C>T r.(=) p.(=) g.8761656G>A Copied from the Exome Variant Server FAM9A_000009 5/10563 5/6728 0/3835
1 c.931-50C>T r.(=) p.(=) g.8759470G>A Copied from the Exome Variant Server FAM9A_000008 1/10559 0/6726 1/3833
1 c.931-49G>A r.(=) p.(=) g.8759469C>T Copied from the Exome Variant Server FAM9A_000007 2/10559 0/6726 2/3833
1 c.936C>T r.(=) p.(=) g.8759415G>A Copied from the Exome Variant Server FAM9A_000006 257/10562 2/6727 255/3835
1 c.937A>G r.(?) p.(Lys313Glu) g.8759414T>C Copied from the Exome Variant Server FAM9A_000005 10/10562 9/6727 1/3835
1 c.971C>A r.(?) p.(Ser324Tyr) g.8759380G>T Copied from the Exome Variant Server FAM9A_000004 1/10562 1/6728 0/3834
1 c.*3G>A r.(=) p.(=) g.8759349C>T Copied from the Exome Variant Server FAM9A_000003 15/10560 14/6728 1/3832
1 c.*10T>C r.(=) p.(=) g.8759342A>G Copied from the Exome Variant Server FAM9A_000002 379/10560 2/6728 377/3832
1 c.*20C>T r.(=) p.(=) g.8759332G>A Copied from the Exome Variant Server FAM9A_000001 256/10561 2/6728 254/3833
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