Full data view for gene FHAD1

Information The variants shown are described using the NM_052929.1 transcript reference sequence.

150 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.-14-4G>A r.spl? p.? g.15578263G>A Copied from the Exome Variant Server FHAD1_000001 1/4566 1/3182 0/1384 - - - - - - -
?/? c.94-37del r.(=) p.(=) g.15598782del Copied from the Exome Variant Server FHAD1_000002 12/6876 0/4434 12/2442 - - - - - - -
?/? c.300G>A r.(=) p.(=) g.15599025G>A Copied from the Exome Variant Server FHAD1_000003 564/4566 513/3182 51/1384 - - - - - - -
?/? c.381C>T r.(=) p.(=) g.15615975C>T Copied from the Exome Variant Server FHAD1_000004 1/4566 1/3182 0/1384 - - - - - - -
?/? c.396T>C r.(=) p.(=) g.15615990T>C Copied from the Exome Variant Server FHAD1_000005 11/4566 11/3182 0/1384 - - - - - - -
?/? c.493C>T r.(?) p.(Arg165Trp) g.15616087C>T Copied from the Exome Variant Server FHAD1_000006 2/4566 2/3182 0/1384 - - - - - - -
?/? c.528C>T r.(=) p.(=) g.15616122C>T Copied from the Exome Variant Server FHAD1_000007 59/4566 56/3182 3/1384 - - - - - - -
?/? c.538G>A r.(?) p.(Asp180Asn) g.15616132G>A Copied from the Exome Variant Server FHAD1_000008 48/4566 0/3182 48/1384 - - - - - - -
?/? c.556G>A r.(?) p.(Val186Ile) g.15616150G>A Copied from the Exome Variant Server FHAD1_000009 1/4566 0/3182 1/1384 - - - - - - -
?/? c.569-34G>A r.(=) p.(=) g.15623146G>A Copied from the Exome Variant Server FHAD1_000010 6/4566 0/3182 6/1384 - - - - - - -
?/? c.603A>G r.(=) p.(=) g.15623214A>G Copied from the Exome Variant Server FHAD1_000011 84/4566 4/3182 80/1384 - - - - - - -
?/? c.610G>A r.(?) p.(Glu204Lys) g.15623221G>A Copied from the Exome Variant Server FHAD1_000012 2/4566 2/3182 0/1384 - - - - - - -
?/? c.613G>T r.(?) p.(Gly205Trp) g.15623224G>T Copied from the Exome Variant Server FHAD1_000013 15/4566 0/3182 15/1384 - - - - - - -
?/? c.657G>A r.(=) p.(=) g.15623268G>A Copied from the Exome Variant Server FHAD1_000014 19/4566 17/3182 2/1384 - - - - - - -
?/? c.678+44_678+48del r.(=) p.(=) g.15623333_15623337del Copied from the Exome Variant Server FHAD1_000015 206/7740 0/5032 206/2708 - - - - - - -
?/? c.754G>A r.(?) p.(Val252Ile) g.15627776G>A Copied from the Exome Variant Server FHAD1_000016 138/4566 4/3182 134/1384 - - - - - - -
?/? c.802G>A r.(?) p.(Val268Met) g.15627824G>A Copied from the Exome Variant Server FHAD1_000017 3/4566 2/3182 1/1384 - - - - - - -
?/? c.822C>T r.(=) p.(=) g.15627844C>T Copied from the Exome Variant Server FHAD1_000018 1/4566 0/3182 1/1384 - - - - - - -
?/? c.833_835del r.(?) p.(Lys279del) g.15627855_15627857del Copied from the Exome Variant Server FHAD1_000019 58/7814 49/5042 9/2772 - - - - - - -
?/? c.888G>C r.(?) p.(Gln296His) g.15627910G>C Copied from the Exome Variant Server FHAD1_000020 11/4566 0/3182 11/1384 - - - - - - -
?/? c.915+19G>A r.(=) p.(=) g.15627956G>A Copied from the Exome Variant Server FHAD1_000021 1/4566 0/3182 1/1384 - - - - - - -
?/? c.915+46C>T r.(=) p.(=) g.15627983C>T Copied from the Exome Variant Server FHAD1_000022 4/4566 4/3182 0/1384 - - - - - - -
?/? c.916-41G>A r.(=) p.(=) g.15635068G>A Copied from the Exome Variant Server FHAD1_000023 1/4566 1/3182 0/1384 - - - - - - -
?/? c.943A>C r.(?) p.(Lys315Gln) g.15635136A>C Copied from the Exome Variant Server FHAD1_000024 18/4566 0/3182 18/1384 - - - - - - -
?/? c.970C>T r.(?) p.(Arg324Trp) g.15635163C>T Copied from the Exome Variant Server FHAD1_000025 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1039+39G>A r.(=) p.(=) g.15635271G>A Copied from the Exome Variant Server FHAD1_000026 33/4566 0/3182 33/1384 - - - - - - -
?/? c.1040-2A>G r.spl? p.? g.15639551A>G Copied from the Exome Variant Server FHAD1_000027 6/4566 6/3182 0/1384 - - - - - - -
?/? c.1068A>G r.(?) p.(Ile356Met) g.15639581A>G Copied from the Exome Variant Server FHAD1_000028 282/4566 160/3182 122/1384 - - - - - - -
?/? c.1116C>T r.(=) p.(=) g.15639629C>T Copied from the Exome Variant Server FHAD1_000029 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1170+18C>T r.(=) p.(=) g.15639701C>T Copied from the Exome Variant Server FHAD1_000030 11/4566 10/3182 1/1384 - - - - - - -
?/? c.1171-35G>A r.(=) p.(=) g.15642839G>A Copied from the Exome Variant Server FHAD1_000031 12/4566 1/3182 11/1384 - - - - - - -
?/? c.1205A>T r.(?) p.(Asp402Val) g.15642908A>T Copied from the Exome Variant Server FHAD1_000032 3/4566 0/3182 3/1384 - - - - - - -
?/? c.1209T>C r.(=) p.(=) g.15642912T>C Copied from the Exome Variant Server FHAD1_000033 178/4566 29/3182 149/1384 - - - - - - -
?/? c.1249_1251del r.(?) p.(Leu417del) g.15642952_15642954del Copied from the Exome Variant Server FHAD1_000034 3/6754 2/4456 1/2298 - - - - - - -
?/? c.1260C>T r.(=) p.(=) g.15642963C>T Copied from the Exome Variant Server FHAD1_000035 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1260+1G>A r.spl? p.? g.15642964G>A Copied from the Exome Variant Server FHAD1_000036 7/4566 7/3182 0/1384 - - - - - - -
?/? c.1366-36A>G r.(=) p.(=) g.15650912A>G Copied from the Exome Variant Server FHAD1_000037 8/4566 0/3182 8/1384 - - - - - - -
?/? c.1366-32G>A r.(=) p.(=) g.15650916G>A Copied from the Exome Variant Server FHAD1_000038 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1473+5_1473+6insCATGT r.spl? p.? g.15651060_15651061insCATGT Copied from the Exome Variant Server FHAD1_000039 32/7276 0/4746 32/2530 - - - - - - -
?/? c.1473+7A>G r.(=) p.(=) g.15651062A>G Copied from the Exome Variant Server FHAD1_000040 1573/4566 997/3182 576/1384 - - - - - - -
?/? c.1474-52A>G r.(=) p.(=) g.15653503A>G Copied from the Exome Variant Server FHAD1_000041 1613/4566 994/3182 619/1384 - - - - - - -
?/? c.1474C>G r.(?) p.(Leu492Val) g.15653555C>G Copied from the Exome Variant Server FHAD1_000042 14/4566 0/3182 14/1384 - - - - - - -
?/? c.1482C>T r.(=) p.(=) g.15653563C>T Copied from the Exome Variant Server FHAD1_000043 1163/4566 944/3182 219/1384 - - - - - - -
?/? c.1520C>T r.(?) p.(Ala507Val) g.15653601C>T Copied from the Exome Variant Server FHAD1_000044 16/4566 0/3182 16/1384 - - - - - - -
?/? c.1548C>T r.(=) p.(=) g.15653629C>T Copied from the Exome Variant Server FHAD1_000045 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1557+11C>T r.(=) p.(=) g.15653649C>T Copied from the Exome Variant Server FHAD1_000046 3/4566 0/3182 3/1384 - - - - - - -
?/? c.1558-35_1558-34del r.(=) p.(=) g.15654738_15654739del Copied from the Exome Variant Server FHAD1_000047 121/5850 95/4002 26/1848 - - - - - - -
?/? c.1558-35_1558-34dup r.(=) p.(=) g.15654738_15654739dup Copied from the Exome Variant Server FHAD1_000048 175/5850 97/4002 78/1848 - - - - - - -
?/? c.1558-34del r.(=) p.(=) g.15654739del Copied from the Exome Variant Server FHAD1_000050 771/5850 545/4002 226/1848 - - - - - - -
?/? c.1558-34dup r.(=) p.(=) g.15654739dup Copied from the Exome Variant Server FHAD1_000049 1606/5850 1055/4002 551/1848 - - - - - - -
?/? c.1668C>T r.(=) p.(=) g.15654883C>T Copied from the Exome Variant Server FHAD1_000051 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1671G>C r.(?) p.(Glu557Asp) g.15654886G>C Copied from the Exome Variant Server FHAD1_000052 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1677C>T r.(=) p.(=) g.15654892C>T Copied from the Exome Variant Server FHAD1_000053 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1692G>A r.(=) p.(=) g.15654907G>A Copied from the Exome Variant Server FHAD1_000054 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1695G>A r.(=) p.(=) g.15654910G>A Copied from the Exome Variant Server FHAD1_000055 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1710+2_1710+3insGGCC r.spl? p.? g.15654927_15654928insGGCC Copied from the Exome Variant Server FHAD1_000056 1/6506 1/4336 0/2170 - - - - - - -
?/? c.1710+13T>G r.(=) p.(=) g.15654938T>G Copied from the Exome Variant Server FHAD1_000057 13/4566 0/3182 13/1384 - - - - - - -
?/? c.1710+16G>A r.(=) p.(=) g.15654941G>A Copied from the Exome Variant Server FHAD1_000058 4/4566 2/3182 2/1384 - - - - - - -
?/? c.1813G>A r.(?) p.(Val605Met) g.15655944G>A Copied from the Exome Variant Server FHAD1_000059 7/4566 7/3182 0/1384 - - - - - - -
?/? c.1834G>A r.(?) p.(Ala612Thr) g.15655965G>A Copied from the Exome Variant Server FHAD1_000060 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1871G>A r.(?) p.(Arg624Gln) g.15656002G>A Copied from the Exome Variant Server FHAD1_000061 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1951G>A r.(?) p.(Gly651Arg) g.15668276G>A Copied from the Exome Variant Server FHAD1_000062 1972/4566 1271/3182 701/1384 - - - - - - -
?/? c.1992A>G r.(=) p.(=) g.15668317A>G Copied from the Exome Variant Server FHAD1_000063 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1994G>A r.(?) p.(Arg665Gln) g.15668319G>A Copied from the Exome Variant Server FHAD1_000064 366/4566 220/3182 146/1384 - - - - - - -
?/? c.2047G>A r.(?) p.(Gly683Arg) g.15668372G>A Copied from the Exome Variant Server FHAD1_000065 23/4566 0/3182 23/1384 - - - - - - -
?/? c.2059G>A r.(?) p.(Gly687Ser) g.15668384G>A Copied from the Exome Variant Server FHAD1_000066 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2135T>C r.(?) p.(Met712Thr) g.15671649T>C Copied from the Exome Variant Server FHAD1_000067 5/4566 4/3182 1/1384 - - - - - - -
?/? c.2173-10G>A r.(=) p.(=) g.15671902G>A Copied from the Exome Variant Server FHAD1_000068 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2181G>A r.(=) p.(=) g.15671920G>A Copied from the Exome Variant Server FHAD1_000069 1/4566 0/3182 1/1384 - - - - - - -
?/? c.2242G>A r.(?) p.(Val748Ile) g.15671981G>A Copied from the Exome Variant Server FHAD1_000070 1/4566 0/3182 1/1384 - - - - - - -
?/? c.2280+5G>A r.spl? p.? g.15672024G>A Copied from the Exome Variant Server FHAD1_000071 1/4566 0/3182 1/1384 - - - - - - -
?/? c.2280+37C>T r.(=) p.(=) g.15672056C>T Copied from the Exome Variant Server FHAD1_000072 31/4566 28/3182 3/1384 - - - - - - -
?/? c.2317G>A r.(?) p.(Ala773Thr) g.15675574G>A Copied from the Exome Variant Server FHAD1_000073 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2337G>A r.(=) p.(=) g.15675594G>A Copied from the Exome Variant Server FHAD1_000074 19/4566 1/3182 18/1384 - - - - - - -
?/? c.2389-12A>G r.(=) p.(=) g.15679361A>G Copied from the Exome Variant Server FHAD1_000075 2/4566 0/3182 2/1384 - - - - - - -
?/? c.2409G>A r.(=) p.(=) g.15679393G>A Copied from the Exome Variant Server FHAD1_000076 71/4566 42/3182 29/1384 - - - - - - -
?/? c.2419C>T r.(?) p.(Arg807Cys) g.15679403C>T Copied from the Exome Variant Server FHAD1_000077 8/4566 0/3182 8/1384 - - - - - - -
?/? c.2420G>A r.(?) p.(Arg807His) g.15679404G>A Copied from the Exome Variant Server FHAD1_000078 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2496+9C>T r.(=) p.(=) g.15679489C>T Copied from the Exome Variant Server FHAD1_000079 1/4566 0/3182 1/1384 - - - - - - -
?/? c.2496+23G>T r.(=) p.(=) g.15679503G>T Copied from the Exome Variant Server FHAD1_000080 14/4566 12/3182 2/1384 - - - - - - -
?/? c.2496+25C>T r.(=) p.(=) g.15679505C>T Copied from the Exome Variant Server FHAD1_000081 5/4566 0/3182 5/1384 - - - - - - -
?/? c.2497-31C>G r.(=) p.(=) g.15684575C>G Copied from the Exome Variant Server FHAD1_000082 1/4566 0/3182 1/1384 - - - - - - -
?/? c.2550C>T r.(=) p.(=) g.15684659C>T Copied from the Exome Variant Server FHAD1_000083 5/4566 0/3182 5/1384 - - - - - - -
?/? c.2551G>A r.(?) p.(Ala851Thr) g.15684660G>A Copied from the Exome Variant Server FHAD1_000084 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2560A>G r.(?) p.(Met854Val) g.15684669A>G Copied from the Exome Variant Server FHAD1_000085 1/4566 0/3182 1/1384 - - - - - - -
?/? c.2662A>G r.(?) p.(Thr888Ala) g.15684771A>G Copied from the Exome Variant Server FHAD1_000086 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2670+24G>A r.(=) p.(=) g.15684803G>A Copied from the Exome Variant Server FHAD1_000087 5/4566 0/3182 5/1384 - - - - - - -
?/? c.2671-48G>A r.(=) p.(=) g.15686926G>A Copied from the Exome Variant Server FHAD1_000088 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2684A>G r.(?) p.(Glu895Gly) g.15686987A>G Copied from the Exome Variant Server FHAD1_000089 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2687G>A r.(?) p.(Arg896Gln) g.15686990G>A Copied from the Exome Variant Server FHAD1_000090 6/4566 0/3182 6/1384 - - - - - - -
?/? c.2749G>A r.(?) p.(Gly917Arg) g.15687052G>A Copied from the Exome Variant Server FHAD1_000091 1/4566 0/3182 1/1384 - - - - - - -
?/? c.2756A>G r.(?) p.(Glu919Gly) g.15687059A>G Copied from the Exome Variant Server FHAD1_000092 1262/4566 901/3182 361/1384 - - - - - - -
?/? c.2839A>T r.(?) p.(Thr947Ser) g.15687142A>T Copied from the Exome Variant Server FHAD1_000093 2/4566 2/3182 0/1384 - - - - - - -
?/? c.2866G>A r.(?) p.(Glu956Lys) g.15687169G>A Copied from the Exome Variant Server FHAD1_000094 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2867A>G r.(?) p.(Glu956Gly) g.15687170A>G Copied from the Exome Variant Server FHAD1_000095 20/4566 0/3182 20/1384 - - - - - - -
?/? c.2891A>G r.(?) p.(Asp964Gly) g.15687194A>G Copied from the Exome Variant Server FHAD1_000096 19/4566 0/3182 19/1384 - - - - - - -
?/? c.2896+9G>A r.(=) p.(=) g.15687208G>A Copied from the Exome Variant Server FHAD1_000097 2/4566 1/3182 1/1384 - - - - - - -
?/? c.2897-17A>G r.(=) p.(=) g.15689121A>G Copied from the Exome Variant Server FHAD1_000098 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2915C>T r.(?) p.(Pro972Leu) g.15689156C>T Copied from the Exome Variant Server FHAD1_000099 3/4566 2/3182 1/1384 - - - - - - -
?/? c.2931G>A r.(=) p.(=) g.15689172G>A Copied from the Exome Variant Server FHAD1_000100 1/4566 1/3182 0/1384 - - - - - - -
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