Full data view for gene FAM47C

Information The variants shown are described using the NM_001013736.2 transcript reference sequence.

112 entries on 2 pages. Showing entries 1 - 100.
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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.-15C>A r.(=) p.(=) g.37026469C>A Copied from the Exome Variant Server FAM47C_000001 234/10502 2/6687 232/3815 - - - - - - -
?/? c.-11C>A r.(=) p.(=) g.37026473C>A Copied from the Exome Variant Server FAM47C_000002 246/10512 2/6690 244/3822 - - - - - - -
?/? c.3del r.(?) p.(Asp3Thrfs*36) g.37026486del Copied from the Exome Variant Server FAM47C_000003 4/10163 2/6456 2/3707 - - - - - - -
?/? c.6G>T r.(=) p.(=) g.37026489G>T Copied from the Exome Variant Server FAM47C_000004 3/10545 0/6717 3/3828 - - - - - - -
?/? c.11A>G r.(?) p.(Gln4Arg) g.37026494A>G Copied from the Exome Variant Server FAM47C_000005 1/10547 1/6717 0/3830 - - - - - - -
?/? c.16C>T r.(?) p.(Pro6Ser) g.37026499C>T Copied from the Exome Variant Server FAM47C_000006 1/10547 0/6718 1/3829 - - - - - - -
?/? c.37C>A r.(?) p.(Pro13Thr) g.37026520C>A Copied from the Exome Variant Server FAM47C_000007 2/10557 0/6726 2/3831 - - - - - - -
?/? c.97C>T r.(?) p.(Arg33Cys) g.37026580C>T Copied from the Exome Variant Server FAM47C_000008 11/10555 0/6722 11/3833 - - - - - - -
?/? c.110G>T r.(?) p.(Arg37Leu) g.37026593G>T Copied from the Exome Variant Server FAM47C_000009 1/10555 0/6722 1/3833 - - - - - - -
?/? c.116_117del r.(?) p.(Arg39Ilefs*27) g.37026599_37026600del Copied from the Exome Variant Server FAM47C_000010 1/10202 1/6481 0/3721 - - - - - - -
?/? c.155C>A r.(?) p.(Thr52Lys) g.37026638C>A Copied from the Exome Variant Server FAM47C_000011 1/10561 1/6728 0/3833 - - - - - - -
?/? c.181G>A r.(?) p.(Gly61Ser) g.37026664G>A Copied from the Exome Variant Server FAM47C_000012 1/10561 1/6728 0/3833 - - - - - - -
?/? c.222C>T r.(=) p.(=) g.37026705C>T Copied from the Exome Variant Server FAM47C_000013 7/10561 5/6728 2/3833 - - - - - - -
?/? c.255T>G r.(=) p.(=) g.37026738T>G Copied from the Exome Variant Server FAM47C_000014 1/10561 1/6728 0/3833 - - - - - - -
?/? c.275G>A r.(?) p.(Ser92Asn) g.37026758G>A Copied from the Exome Variant Server FAM47C_000015 1/10561 1/6728 0/3833 - - - - - - -
?/? c.309G>A r.(=) p.(=) g.37026792G>A Copied from the Exome Variant Server FAM47C_000016 1/10561 1/6728 0/3833 - - - - - - -
?/? c.316A>G r.(?) p.(Lys106Glu) g.37026799A>G Copied from the Exome Variant Server FAM47C_000017 7/10561 6/6728 1/3833 - - - - - - -
?/? c.324G>T r.(=) p.(=) g.37026807G>T Copied from the Exome Variant Server FAM47C_000018 2/10561 0/6728 2/3833 - - - - - - -
?/? c.331C>T r.(?) p.(Gln111*) g.37026814C>T Copied from the Exome Variant Server FAM47C_000019 1/10561 0/6728 1/3833 - - - - - - -
?/? c.345G>A r.(=) p.(=) g.37026828G>A Copied from the Exome Variant Server FAM47C_000020 1/10561 0/6728 1/3833 - - - - - - -
?/? c.353T>A r.(?) p.(Val118Glu) g.37026836T>A Copied from the Exome Variant Server FAM47C_000021 1/10561 1/6728 0/3833 - - - - - - -
?/? c.375G>A r.(=) p.(=) g.37026858G>A Copied from the Exome Variant Server FAM47C_000023 2/10559 0/6726 2/3833 - - - - - - -
?/? c.422T>C r.(?) p.(Met141Thr) g.37026905T>C Copied from the Exome Variant Server FAM47C_000025 1/10561 1/6728 0/3833 - - - - - - -
?/? c.439C>T r.(=) p.(=) g.37026922C>T Copied from the Exome Variant Server FAM47C_000027 30/10561 0/6728 30/3833 - - - - - - -
?/? c.487G>A r.(?) p.(Gly163Ser) g.37026970G>A Copied from the Exome Variant Server FAM47C_000029 1/10561 1/6728 0/3833 - - - - - - -
?/? c.522A>C r.(?) p.(Glu174Asp) g.37027005A>C Copied from the Exome Variant Server FAM47C_000022 16/10561 0/6728 16/3833 - - - - - - -
?/? c.524C>A r.(?) p.(Pro175His) g.37027007C>A Copied from the Exome Variant Server FAM47C_000024 1295/10561 35/6728 1260/3833 - - - - - - -
?/? c.541T>C r.(?) p.(Tyr181His) g.37027024T>C Copied from the Exome Variant Server FAM47C_000026 4/10561 4/6728 0/3833 - - - - - - -
?/? c.552G>A r.(=) p.(=) g.37027035G>A Copied from the Exome Variant Server FAM47C_000028 80/10561 75/6728 5/3833 - - - - - - -
?/? c.590G>T r.(?) p.(Cys197Phe) g.37027073G>T Copied from the Exome Variant Server FAM47C_000030 3/10561 3/6728 0/3833 - - - - - - -
?/? c.617C>T r.(?) p.(Pro206Leu) g.37027100C>T Copied from the Exome Variant Server FAM47C_000031 1/10561 1/6728 0/3833 - - - - - - -
?/? c.636G>T r.(=) p.(=) g.37027119G>T Copied from the Exome Variant Server FAM47C_000032 3/10557 0/6724 3/3833 - - - - - - -
?/? c.690G>A r.(=) p.(=) g.37027173G>A Copied from the Exome Variant Server FAM47C_000033 1/10560 0/6728 1/3832 - - - - - - -
?/? c.736C>T r.(?) p.(Leu246Phe) g.37027219C>T Copied from the Exome Variant Server FAM47C_000034 19/10561 16/6728 3/3833 - - - - - - -
?/? c.766T>C r.(?) p.(Ser256Pro) g.37027249T>C Copied from the Exome Variant Server FAM47C_000035 1/10560 0/6727 1/3833 - - - - - - -
?/? c.790G>A r.(?) p.(Glu264Lys) g.37027273G>A Copied from the Exome Variant Server FAM47C_000036 1/10561 1/6728 0/3833 - - - - - - -
?/? c.793A>G r.(?) p.(Thr265Ala) g.37027276A>G Copied from the Exome Variant Server FAM47C_000037 15/10561 0/6728 15/3833 - - - - - - -
?/? c.861C>T r.(=) p.(=) g.37027344C>T Copied from the Exome Variant Server FAM47C_000038 1/10561 0/6728 1/3833 - - - - - - -
?/? c.869G>A r.(?) p.(Arg290His) g.37027352G>A Copied from the Exome Variant Server FAM47C_000039 1/10561 0/6728 1/3833 - - - - - - -
?/? c.887G>C r.(?) p.(Arg296Pro) g.37027370G>C Copied from the Exome Variant Server FAM47C_000040 11/10561 0/6728 11/3833 - - - - - - -
?/? c.955C>T r.(?) p.(Arg319Cys) g.37027438C>T Copied from the Exome Variant Server FAM47C_000041 1/10561 1/6728 0/3833 - - - - - - -
?/? c.956G>T r.(?) p.(Arg319Leu) g.37027439G>T Copied from the Exome Variant Server FAM47C_000042 1/10561 0/6728 1/3833 - - - - - - -
?/? c.999G>C r.(?) p.(Glu333Asp) g.37027482G>C Copied from the Exome Variant Server FAM47C_000043 44/10560 0/6727 44/3833 - - - - - - -
?/? c.1037C>T r.(?) p.(Pro346Leu) g.37027520C>T Copied from the Exome Variant Server FAM47C_000044 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1067C>T r.(?) p.(Pro356Leu) g.37027550C>T Copied from the Exome Variant Server FAM47C_000045 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1085G>A r.(?) p.(Arg362His) g.37027568G>A Copied from the Exome Variant Server FAM47C_000046 4/10561 4/6728 0/3833 - - - - - - -
?/? c.1094C>A r.(?) p.(Pro365His) g.37027577C>A Copied from the Exome Variant Server FAM47C_000047 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1159G>A r.(?) p.(Val387Ile) g.37027642G>A Copied from the Exome Variant Server FAM47C_000048 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1195G>A r.(?) p.(Val399Met) g.37027678G>A Copied from the Exome Variant Server FAM47C_000049 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1211C>T r.(?) p.(Pro404Leu) g.37027694C>T Copied from the Exome Variant Server FAM47C_000050 3/10561 0/6728 3/3833 - - - - - - -
?/? c.1231A>G r.(?) p.(Ile411Val) g.37027714A>G Copied from the Exome Variant Server FAM47C_000051 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1243C>T r.(?) p.(Arg415Cys) g.37027726C>T Copied from the Exome Variant Server FAM47C_000052 2/10561 2/6728 0/3833 - - - - - - -
?/? c.1351C>T r.(?) p.(Arg451Cys) g.37027834C>T Copied from the Exome Variant Server FAM47C_000053 17/10561 16/6728 1/3833 - - - - - - -
?/? c.1375G>A r.(?) p.(Val459Met) g.37027858G>A Copied from the Exome Variant Server FAM47C_000054 18/10561 0/6728 18/3833 - - - - - - -
?/? c.1387C>T r.(?) p.(His463Tyr) g.37027870C>T Copied from the Exome Variant Server FAM47C_000055 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1420C>A r.(?) p.(Leu474Ile) g.37027903C>A Copied from the Exome Variant Server FAM47C_000056 66/10561 0/6728 66/3833 - - - - - - -
?/? c.1459C>T r.(?) p.(Arg487Cys) g.37027942C>T Copied from the Exome Variant Server FAM47C_000057 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1516C>T r.(?) p.(Arg506Cys) g.37027999C>T Copied from the Exome Variant Server FAM47C_000058 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1518C>T r.(=) p.(=) g.37028001C>T Copied from the Exome Variant Server FAM47C_000059 4/10561 0/6728 4/3833 - - - - - - -
?/? c.1531C>T r.(?) p.(Arg511Cys) g.37028014C>T Copied from the Exome Variant Server FAM47C_000060 4/10561 3/6728 1/3833 - - - - - - -
?/? c.1562A>G r.(?) p.(His521Arg) g.37028045A>G Copied from the Exome Variant Server FAM47C_000061 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1612C>T r.(?) p.(Pro538Ser) g.37028095C>T Copied from the Exome Variant Server FAM47C_000062 4/10561 0/6728 4/3833 - - - - - - -
?/? c.1627G>A r.(?) p.(Val543Ile) g.37028110G>A Copied from the Exome Variant Server FAM47C_000063 159/10561 1/6728 158/3833 - - - - - - -
?/? c.1644A>G r.(=) p.(=) g.37028127A>G Copied from the Exome Variant Server FAM47C_000064 3756/10561 782/6728 2974/3833 - - - - - - -
?/? c.1676G>A r.(?) p.(Arg559His) g.37028159G>A Copied from the Exome Variant Server FAM47C_000065 1/10483 0/6692 1/3791 - - - - - - -
?/? c.1680A>G r.(=) p.(=) g.37028163A>G Copied from the Exome Variant Server FAM47C_000066 1/10542 1/6722 0/3820 - - - - - - -
?/? c.1725C>T r.(=) p.(=) g.37028208C>T Copied from the Exome Variant Server FAM47C_000067 43/10561 0/6728 43/3833 - - - - - - -
?/? c.1769G>C r.(?) p.(Arg590Pro) g.37028252G>C Copied from the Exome Variant Server FAM47C_000068 2/10546 2/6715 0/3831 - - - - - - -
?/? c.1795C>T r.(?) p.(Pro599Ser) g.37028278C>T Copied from the Exome Variant Server FAM47C_000069 3/10417 3/6651 0/3766 - - - - - - -
?/? c.1855C>T r.(?) p.(Arg619Cys) g.37028338C>T Copied from the Exome Variant Server FAM47C_000070 1/10544 1/6715 0/3829 - - - - - - -
?/? c.1888C>A r.(?) p.(Leu630Ile) g.37028371C>A Copied from the Exome Variant Server FAM47C_000071 2/10494 2/6688 0/3806 - - - - - - -
?/? c.1891C>T r.(?) p.(Arg631Cys) g.37028374C>T Copied from the Exome Variant Server FAM47C_000072 6/10404 0/6639 6/3765 - - - - - - -
?/? c.1939C>T r.(?) p.(Pro647Ser) g.37028422C>T Copied from the Exome Variant Server FAM47C_000073 2/10556 2/6727 0/3829 - - - - - - -
?/? c.1960C>T r.(?) p.(Leu654Phe) g.37028443C>T Copied from the Exome Variant Server FAM47C_000074 3/10560 3/6727 0/3833 - - - - - - -
?/? c.1997_1998insC r.(?) p.(Glu669Glyfs*28) g.37028480_37028481insC Copied from the Exome Variant Server FAM47C_000075 7/9987 4/6367 3/3620 - - - - - - -
?/? c.2003C>T r.(?) p.(Pro668Leu) g.37028486C>T Copied from the Exome Variant Server FAM47C_000076 4/10395 0/6651 4/3744 - - - - - - -
?/? c.2057G>A r.(?) p.(Arg686His) g.37028540G>A Copied from the Exome Variant Server FAM47C_000077 1/10539 0/6713 1/3826 - - - - - - -
?/? c.2079G>A r.(=) p.(=) g.37028562G>A Copied from the Exome Variant Server FAM47C_000078 1/10561 0/6728 1/3833 - - - - - - -
?/? c.2110C>T r.(?) p.(Pro704Ser) g.37028593C>T Copied from the Exome Variant Server FAM47C_000079 1/10561 1/6728 0/3833 - - - - - - -
?/? c.2120C>T r.(?) p.(Pro707Leu) g.37028603C>T Copied from the Exome Variant Server FAM47C_000080 1/10561 0/6728 1/3833 - - - - - - -
?/? c.2128C>T r.(?) p.(Arg710Trp) g.37028611C>T Copied from the Exome Variant Server FAM47C_000081 1/10561 1/6728 0/3833 - - - - - - -
?/? c.2140C>A r.(?) p.(Leu714Ile) g.37028623C>A Copied from the Exome Variant Server FAM47C_000082 3/10561 3/6728 0/3833 - - - - - - -
?/? c.2146del r.(?) p.(Ala716Argfs*109) g.37028629del Copied from the Exome Variant Server FAM47C_000083 158/10205 16/6484 142/3721 - - - - - - -
?/? c.2146G>C r.(?) p.(Ala716Pro) g.37028629G>C Copied from the Exome Variant Server FAM47C_000084 736/10560 61/6727 675/3833 - - - - - - -
?/? c.2165G>A r.(?) p.(Arg722His) g.37028648G>A Copied from the Exome Variant Server FAM47C_000085 2/10561 2/6728 0/3833 - - - - - - -
?/? c.2184G>A r.(=) p.(=) g.37028667G>A Copied from the Exome Variant Server FAM47C_000086 2/10561 0/6728 2/3833 - - - - - - -
?/? c.2196G>A r.(=) p.(=) g.37028679G>A Copied from the Exome Variant Server FAM47C_000087 1/10561 1/6728 0/3833 - - - - - - -
?/? c.2215C>T r.(?) p.(Arg739Cys) g.37028698C>T Copied from the Exome Variant Server FAM47C_000088 2/10561 1/6728 1/3833 - - - - - - -
?/? c.2236C>T r.(?) p.(Arg746Trp) g.37028719C>T Copied from the Exome Variant Server FAM47C_000089 2/10561 2/6728 0/3833 - - - - - - -
?/? c.2273G>A r.(?) p.(Arg758His) g.37028756G>A Copied from the Exome Variant Server FAM47C_000090 1/10561 0/6728 1/3833 - - - - - - -
?/? c.2279C>G r.(?) p.(Ser760Cys) g.37028762C>G Copied from the Exome Variant Server FAM47C_000091 66/10561 0/6728 66/3833 - - - - - - -
?/? c.2287C>T r.(?) p.(Arg763Cys) g.37028770C>T Copied from the Exome Variant Server FAM47C_000092 7/10561 0/6728 7/3833 - - - - - - -
?/? c.2381G>A r.(?) p.(Arg794His) g.37028864G>A Copied from the Exome Variant Server FAM47C_000093 1/10560 0/6728 1/3832 - - - - - - -
?/? c.2383C>T r.(?) p.(Arg795*) g.37028866C>T Copied from the Exome Variant Server FAM47C_000094 6/10560 6/6728 0/3832 - - - - - - -
?/? c.2385A>T r.(=) p.(=) g.37028868A>T Copied from the Exome Variant Server FAM47C_000095 1/10560 1/6728 0/3832 - - - - - - -
?/? c.2421T>C r.(=) p.(=) g.37028904T>C Copied from the Exome Variant Server FAM47C_000097 1/10561 0/6728 1/3833 - - - - - - -
?/? c.2422C>T r.(?) p.(Arg808Trp) g.37028905C>T Copied from the Exome Variant Server FAM47C_000099 2/10561 0/6728 2/3833 - - - - - - -
?/? c.2439C>T r.(=) p.(=) g.37028922C>T Copied from the Exome Variant Server FAM47C_000101 1/10561 0/6728 1/3833 - - - - - - -
?/? c.2450C>T r.(?) p.(Thr817Ile) g.37028933C>T Copied from the Exome Variant Server FAM47C_000103 11/10561 0/6728 11/3833 - - - - - - -
?/? c.2463G>A r.(=) p.(=) g.37028946G>A Copied from the Exome Variant Server FAM47C_000105 1/10561 0/6728 1/3833 - - - - - - -
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