Full data view for gene FAM47A

Information The variants shown are described using the NM_203408.3 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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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.-23G>A r.(=) p.(=) g.34150418C>T Copied from the Exome Variant Server FAM47A_000083 2/10496 2/6688 0/3808 - - - - - - -
?/? c.-11C>T r.(=) p.(=) g.34150406G>A Copied from the Exome Variant Server FAM47A_000081 2/10497 2/6693 0/3804 - - - - - - -
?/? c.2T>G r.? p.? g.34150394A>C Copied from the Exome Variant Server FAM47A_000080 5/10476 0/6681 5/3795 - - - - - - -
?/? c.76C>T r.(?) p.(Pro26Ser) g.34150320G>A Copied from the Exome Variant Server FAM47A_000078 6/10561 0/6728 6/3833 - - - - - - -
?/? c.195C>G r.(=) p.(=) g.34150201G>C Copied from the Exome Variant Server FAM47A_000075 1/10561 1/6728 0/3833 - - - - - - -
?/? c.217C>T r.(?) p.(Arg73Cys) g.34150179G>A Copied from the Exome Variant Server FAM47A_000073 2/10561 2/6728 0/3833 - - - - - - -
?/? c.222C>A r.(?) p.(Asp74Glu) g.34150174G>T Copied from the Exome Variant Server FAM47A_000071 1/10561 1/6728 0/3833 - - - - - - -
?/? c.246T>C r.(=) p.(=) g.34150150A>G Copied from the Exome Variant Server FAM47A_000069 55/10561 54/6728 1/3833 - - - - - - -
?/? c.291G>C r.(=) p.(=) g.34150105C>G Copied from the Exome Variant Server FAM47A_000082 1/10561 1/6728 0/3833 - - - - - - -
?/? c.297G>C r.(?) p.(Lys99Asn) g.34150099C>G Copied from the Exome Variant Server FAM47A_000079 1/10561 0/6728 1/3833 - - - - - - -
?/? c.331C>G r.(?) p.(Gln111Glu) g.34150065G>C Copied from the Exome Variant Server FAM47A_000077 2/10561 0/6728 2/3833 - - - - - - -
?/? c.368C>T r.(?) p.(Ala123Val) g.34150028G>A Copied from the Exome Variant Server FAM47A_000076 2/10561 0/6728 2/3833 - - - - - - -
?/? c.377T>C r.(?) p.(Met126Thr) g.34150019A>G Copied from the Exome Variant Server FAM47A_000074 163/10561 1/6728 162/3833 - - - - - - -
?/? c.378G>C r.(?) p.(Met126Ile) g.34150018C>G Copied from the Exome Variant Server FAM47A_000072 2/10561 0/6728 2/3833 - - - - - - -
?/? c.407A>G r.(?) p.(Asn136Ser) g.34149989T>C Copied from the Exome Variant Server FAM47A_000070 1/10561 1/6728 0/3833 - - - - - - -
?/? c.440T>C r.(?) p.(Leu147Pro) g.34149956A>G Copied from the Exome Variant Server FAM47A_000068 1/10561 0/6728 1/3833 - - - - - - -
?/? c.495T>C r.(=) p.(=) g.34149901A>G Copied from the Exome Variant Server FAM47A_000067 1/10561 0/6728 1/3833 - - - - - - -
?/? c.520G>C r.(?) p.(Glu174Gln) g.34149876C>G Copied from the Exome Variant Server FAM47A_000066 1/10561 1/6728 0/3833 - - - - - - -
?/? c.530C>T r.(?) p.(Thr177Ile) g.34149866G>A Copied from the Exome Variant Server FAM47A_000065 1/10561 1/6728 0/3833 - - - - - - -
?/? c.532G>A r.(?) p.(Glu178Lys) g.34149864C>T Copied from the Exome Variant Server FAM47A_000064 2/10561 2/6728 0/3833 - - - - - - -
?/? c.581C>T r.(?) p.(Thr194Ile) g.34149815G>A Copied from the Exome Variant Server FAM47A_000063 5/10551 3/6723 2/3828 - - - - - - -
?/? c.632T>C r.(?) p.(Leu211Pro) g.34149764A>G Copied from the Exome Variant Server FAM47A_000062 47/10555 3/6726 44/3829 - - - - - - -
?/? c.670C>T r.(?) p.(Arg224Cys) g.34149726G>A Copied from the Exome Variant Server FAM47A_000061 8/10556 8/6725 0/3831 - - - - - - -
?/? c.674C>A r.(?) p.(Pro225Gln) g.34149722G>T Copied from the Exome Variant Server FAM47A_000060 37/10557 1/6726 36/3831 - - - - - - -
?/? c.703C>A r.(?) p.(Leu235Ile) g.34149693G>T Copied from the Exome Variant Server FAM47A_000059 59/10551 53/6720 6/3831 - - - - - - -
?/? c.706C>T r.(?) p.(Arg236Cys) g.34149690G>A Copied from the Exome Variant Server FAM47A_000058 1/10550 1/6719 0/3831 - - - - - - -
?/? c.707G>A r.(?) p.(Arg236His) g.34149689C>T Copied from the Exome Variant Server FAM47A_000057 2/10551 0/6721 2/3830 - - - - - - -
?/? c.703_738del r.(?) p.(Leu235_His246del) g.34149658_34149693del Copied from the Exome Variant Server FAM47A_000056 131/10171 98/6471 33/3700 - - - - - - -
?/? c.748G>A r.(?) p.(Gly250Arg) g.34149648C>T Copied from the Exome Variant Server FAM47A_000055 2/10553 2/6723 0/3830 - - - - - - -
?/? c.749G>A r.(?) p.(Gly250Glu) g.34149647C>T Copied from the Exome Variant Server FAM47A_000054 1/10553 1/6723 0/3830 - - - - - - -
?/? c.841G>A r.(?) p.(Glu281Lys) g.34149555C>T Copied from the Exome Variant Server FAM47A_000053 1/10561 0/6728 1/3833 - - - - - - -
?/? c.858A>C r.(=) p.(=) g.34149538T>G Copied from the Exome Variant Server FAM47A_000052 1/10557 1/6726 0/3831 - - - - - - -
?/? c.864C>T r.(=) p.(=) g.34149532G>A Copied from the Exome Variant Server FAM47A_000051 1/10557 1/6726 0/3831 - - - - - - -
?/? c.921G>A r.(=) p.(=) g.34149475C>T Copied from the Exome Variant Server FAM47A_000050 1/10547 1/6723 0/3824 - - - - - - -
?/? c.953C>T r.(?) p.(Pro318Leu) g.34149443G>A Copied from the Exome Variant Server FAM47A_000049 1/10527 1/6717 0/3810 - - - - - - -
?/? c.958A>T r.(?) p.(Thr320Ser) g.34149438T>A Copied from the Exome Variant Server FAM47A_000048 5/10523 5/6713 0/3810 - - - - - - -
?/? c.976C>T r.(?) p.(Arg326Cys) g.34149420G>A Copied from the Exome Variant Server FAM47A_000047 1/10503 1/6709 0/3794 - - - - - - -
?/? c.980C>G r.(?) p.(Pro327Arg) g.34149416G>C Copied from the Exome Variant Server FAM47A_000046 18/10502 0/6706 18/3796 - - - - - - -
?/? c.995C>T r.(?) p.(Thr332Ile) g.34149401G>A Copied from the Exome Variant Server FAM47A_000045 1/10494 1/6705 0/3789 - - - - - - -
?/? c.1013G>C r.(?) p.(Arg338Pro) g.34149383C>G Copied from the Exome Variant Server FAM47A_000044 4/10495 4/6706 0/3789 - - - - - - -
?/? c.1036C>A r.(=) p.(=) g.34149360G>T Copied from the Exome Variant Server FAM47A_000043 1/10507 1/6704 0/3803 - - - - - - -
?/? c.1041G>A r.(=) p.(=) g.34149355C>T Copied from the Exome Variant Server FAM47A_000042 3/10523 0/6715 3/3808 - - - - - - -
?/? c.1055C>T r.(?) p.(Ser352Leu) g.34149341G>A Copied from the Exome Variant Server FAM47A_000041 1/10531 1/6722 0/3809 - - - - - - -
?/? c.1082G>A r.(?) p.(Arg361His) g.34149314C>T Copied from the Exome Variant Server FAM47A_000040 3/10549 1/6724 2/3825 - - - - - - -
?/? c.1112G>A r.(?) p.(Arg371Gln) g.34149284C>T Copied from the Exome Variant Server FAM47A_000039 1/10557 1/6726 0/3831 - - - - - - -
?/? c.1129G>T r.(?) p.(Ala377Ser) g.34149267C>A Copied from the Exome Variant Server FAM47A_000038 2583/10554 1107/6727 1476/3827 - - - - - - -
?/? c.1130C>T r.(?) p.(Ala377Val) g.34149266G>A Copied from the Exome Variant Server FAM47A_000037 1/10556 0/6727 1/3829 - - - - - - -
?/? c.1166C>T r.(?) p.(Pro389Leu) g.34149230G>A Copied from the Exome Variant Server FAM47A_000036 22/10558 1/6727 21/3831 - - - - - - -
?/? c.1176C>A r.(=) p.(=) g.34149220G>T Copied from the Exome Variant Server FAM47A_000035 1/10558 0/6727 1/3831 - - - - - - -
?/? c.1213A>T r.(?) p.(Lys405*) g.34149183T>A Copied from the Exome Variant Server FAM47A_000034 1/10556 1/6727 0/3829 - - - - - - -
?/? c.1235G>A r.(?) p.(Arg412His) g.34149161C>T Copied from the Exome Variant Server FAM47A_000033 1/10552 0/6725 1/3827 - - - - - - -
?/? c.1248C>T r.(=) p.(=) g.34149148G>A Copied from the Exome Variant Server FAM47A_000032 1/10541 0/6724 1/3817 - - - - - - -
?/? c.1250A>T r.(?) p.(Asp417Val) g.34149146T>A Copied from the Exome Variant Server FAM47A_000031 1/10527 1/6718 0/3809 - - - - - - -
?/? c.1268A>G r.(?) p.(Asn423Ser) g.34149128T>C Copied from the Exome Variant Server FAM47A_000030 1/10479 0/6694 1/3785 - - - - - - -
?/? c.1310C>T r.(?) p.(Thr437Met) g.34149086G>A Copied from the Exome Variant Server FAM47A_000029 1/10313 1/6650 0/3663 - - - - - - -
?/? c.1311G>A r.(=) p.(=) g.34149085C>T Copied from the Exome Variant Server FAM47A_000028 4/10287 0/6646 4/3641 - - - - - - -
?/? c.1331G>A r.(?) p.(Arg444His) g.34149065C>T Copied from the Exome Variant Server FAM47A_000026 1/10204 1/6623 0/3581 - - - - - - -
?/? c.1419_1420insAGT r.(?) p.(Thr473_Gln474insSer) g.34148976_34148977insACT Copied from the Exome Variant Server FAM47A_000024 9/9994 4/6403 5/3591 - - - - - - -
?/? c.1475A>G r.(?) p.(His492Arg) g.34148921T>C Copied from the Exome Variant Server FAM47A_000027 35/10535 14/6714 21/3821 - - - - - - -
?/? c.1478C>T r.(?) p.(Ser493Leu) g.34148918G>A Copied from the Exome Variant Server FAM47A_000025 23/10535 22/6716 1/3819 - - - - - - -
?/? c.1499G>A r.(?) p.(Arg500Gln) g.34148897C>T Copied from the Exome Variant Server FAM47A_000023 1/10527 1/6717 0/3810 - - - - - - -
?/? c.1513C>T r.(?) p.(Arg505Cys) g.34148883G>A Copied from the Exome Variant Server FAM47A_000022 1/10509 0/6706 1/3803 - - - - - - -
?/? c.1537C>T r.(?) p.(Arg513Trp) g.34148859G>A Copied from the Exome Variant Server FAM47A_000021 1/9936 1/6198 0/3738 - - - - - - -
?/? c.1542G>A r.(=) p.(=) g.34148854C>T Copied from the Exome Variant Server FAM47A_000020 1/10268 1/6493 0/3775 - - - - - - -
?/? c.1596G>A r.(=) p.(=) g.34148800C>T Copied from the Exome Variant Server FAM47A_000019 1/10545 1/6720 0/3825 - - - - - - -
?/? c.1578_1616del r.(?) p.(Thr527_Arg539del) g.34148780_34148818del Copied from the Exome Variant Server FAM47A_000018 103/10169 57/6465 46/3704 - - - - - - -
?/? c.1634C>T r.(?) p.(Pro545Leu) g.34148762G>A Copied from the Exome Variant Server FAM47A_000017 3/10544 0/6721 3/3823 - - - - - - -
?/? c.1635G>A r.(=) p.(=) g.34148761C>T Copied from the Exome Variant Server FAM47A_000016 8/10538 5/6721 3/3817 - - - - - - -
?/? c.1674G>A r.(=) p.(=) g.34148722C>T Copied from the Exome Variant Server FAM47A_000015 3/10484 1/6697 2/3787 - - - - - - -
?/? c.1680T>C r.(=) p.(=) g.34148716A>G Copied from the Exome Variant Server FAM47A_000014 10/10482 0/6701 10/3781 - - - - - - -
?/? c.1726C>G r.(?) p.(Arg576Gly) g.34148670G>C Copied from the Exome Variant Server FAM47A_000013 107/10405 1/6665 106/3740 - - - - - - -
?/? c.1781G>A r.(?) p.(Cys594Tyr) g.34148615C>T Copied from the Exome Variant Server FAM47A_000012 1/10397 1/6664 0/3733 - - - - - - -
?/? c.1898C>T r.(?) p.(Pro633Leu) g.34148498G>A Copied from the Exome Variant Server FAM47A_000011 1/10307 1/6652 0/3655 - - - - - - -
?/? c.1991A>G r.(?) p.(Asp664Gly) g.34148405T>C Copied from the Exome Variant Server FAM47A_000010 1/10537 0/6718 1/3819 - - - - - - -
?/? c.2048C>T r.(?) p.(Ser683Leu) g.34148348G>A Copied from the Exome Variant Server FAM47A_000009 22/10561 0/6728 22/3833 - - - - - - -
?/? c.2050A>G r.(?) p.(Asn684Asp) g.34148346T>C Copied from the Exome Variant Server FAM47A_000008 1/10561 1/6728 0/3833 - - - - - - -
?/? c.2133_2135del r.(?) p.(Asp711del) g.34148261_34148263del Copied from the Exome Variant Server FAM47A_000007 13/10205 6/6484 7/3721 - - - - - - -
?/? c.2161C>G r.(?) p.(Leu721Val) g.34148235G>C Copied from the Exome Variant Server FAM47A_000006 1/10561 0/6728 1/3833 - - - - - - -
?/? c.2192A>G r.(?) p.(Asp731Gly) g.34148204T>C Copied from the Exome Variant Server FAM47A_000005 10/10561 0/6728 10/3833 - - - - - - -
?/? c.2193C>T r.(=) p.(=) g.34148203G>A Copied from the Exome Variant Server FAM47A_000004 2/10561 2/6728 0/3833 - - - - - - -
?/? c.2233A>T r.(?) p.(Ser745Cys) g.34148163T>A Copied from the Exome Variant Server FAM47A_000003 1/10557 1/6724 0/3833 - - - - - - -
?/? c.2370_2372del r.(?) p.(Glu790del) g.34148024_34148026del Copied from the Exome Variant Server FAM47A_000002 1/10201 1/6482 0/3719 - - - - - - -
?/? c.*24T>C r.(=) p.(=) g.34147996A>G Copied from the Exome Variant Server FAM47A_000001 1/10518 1/6715 0/3803 - - - - - - -
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