Unique variants in gene FRMPD3

Information The variants shown are described using the XM_042978.7 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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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.34+3G>A r.spl? p.? g.106765716G>A Copied from the Exome Variant Server FRMPD3_000001 1/4525 0/3107 1/1418
1 c.34+12C>T r.(=) p.(=) g.106765725C>T Copied from the Exome Variant Server FRMPD3_000002 4/4525 4/3107 0/1418
1 c.34+18del r.(=) p.(=) g.106765731del Copied from the Exome Variant Server FRMPD3_000003 3/6612 3/4247 0/2365
1 c.34+43G>C r.(=) p.(=) g.106765756G>C Copied from the Exome Variant Server FRMPD3_000004 1/4525 0/3107 1/1418
1 c.35-34A>G r.(=) p.(=) g.106768791A>G Copied from the Exome Variant Server FRMPD3_000005 584/4525 21/3107 563/1418
1 c.93-40C>T r.(=) p.(=) g.106769772C>T Copied from the Exome Variant Server FRMPD3_000006 1/4525 1/3107 0/1418
1 c.157C>T r.(?) p.(Arg53*) g.106769876C>T Copied from the Exome Variant Server FRMPD3_000007 2/4525 1/3107 1/1418
1 c.247+46C>A r.(=) p.(=) g.106770012C>A Copied from the Exome Variant Server FRMPD3_000008 1/4525 1/3107 0/1418
1 c.486-41T>C r.(=) p.(=) g.106776694T>C Copied from the Exome Variant Server FRMPD3_000009 1/4525 1/3107 0/1418
1 c.523A>G r.(?) p.(Thr175Ala) g.106776772A>G Copied from the Exome Variant Server FRMPD3_000010 7/4525 0/3107 7/1418
1 c.524C>G r.(?) p.(Thr175Ser) g.106776773C>G Copied from the Exome Variant Server FRMPD3_000011 2/4525 2/3107 0/1418
1 c.531_531+1insGTGA N/A N/A g.106776780_106776781insGTGA Copied from the Exome Variant Server FRMPD3_000012 1/5915 1/3787 0/2128
1 c.636+38C>T r.(=) p.(=) g.106789109C>T Copied from the Exome Variant Server FRMPD3_000013 1/4525 0/3107 1/1418
1 c.641T>C r.(?) p.(Met214Thr) g.106793283T>C Copied from the Exome Variant Server FRMPD3_000014 1/4525 1/3107 0/1418
1 c.660C>T r.(=) p.(=) g.106793302C>T Copied from the Exome Variant Server FRMPD3_000015 1/4525 1/3107 0/1418
1 c.744+10G>A r.(=) p.(=) g.106793396G>A Copied from the Exome Variant Server FRMPD3_000016 672/4524 19/3106 653/1418
1 c.804T>C r.(=) p.(=) g.106796084T>C Copied from the Exome Variant Server FRMPD3_000017 673/4525 20/3107 653/1418
1 c.815A>C r.(?) p.(Tyr272Ser) g.106796095A>C Copied from the Exome Variant Server FRMPD3_000018 1/4525 1/3107 0/1418
1 c.997-32A>G r.(=) p.(=) g.106803455A>G Copied from the Exome Variant Server FRMPD3_000019 24/4525 11/3107 13/1418
1 c.1093G>A r.(?) p.(Ala365Thr) g.106803583G>A Copied from the Exome Variant Server FRMPD3_000020 3/4525 0/3107 3/1418
1 c.1118C>T r.(?) p.(Ser373Leu) g.106803608C>T Copied from the Exome Variant Server FRMPD3_000021 5/4525 0/3107 5/1418
1 c.1119G>A r.(=) p.(=) g.106803609G>A Copied from the Exome Variant Server FRMPD3_000022 5/4525 5/3107 0/1418
1 c.1133+14C>T r.(=) p.(=) g.106803637C>T Copied from the Exome Variant Server FRMPD3_000023 1/4525 0/3107 1/1418
1 c.1133+36A>G r.(=) p.(=) g.106803659A>G Copied from the Exome Variant Server FRMPD3_000024 1/4525 0/3107 1/1418
1 c.1133+44C>T r.(=) p.(=) g.106803667C>T Copied from the Exome Variant Server FRMPD3_000025 1/4524 1/3106 0/1418
1 c.1243C>A r.(?) p.(Pro415Thr) g.106804066C>A Copied from the Exome Variant Server FRMPD3_000026 3/4522 0/3104 3/1418
1 c.1261-40C>T r.(=) p.(=) g.106806301C>T Copied from the Exome Variant Server FRMPD3_000027 29/4525 26/3107 3/1418
1 c.1349T>G r.(?) p.(Leu450Arg) g.106806429T>G Copied from the Exome Variant Server FRMPD3_000028 1/4525 0/3107 1/1418
1 c.1351-26C>T r.(=) p.(=) g.106808091C>T Copied from the Exome Variant Server FRMPD3_000029 1/4525 1/3107 0/1418
1 c.1351-25G>A r.(=) p.(=) g.106808092G>A Copied from the Exome Variant Server FRMPD3_000030 2/4525 2/3107 0/1418
1 c.1351-8G>A r.(=) p.(=) g.106808109G>A Copied from the Exome Variant Server FRMPD3_000031 1/4525 1/3107 0/1418
1 c.1377C>T r.(=) p.(=) g.106808143C>T Copied from the Exome Variant Server FRMPD3_000032 1/4525 0/3107 1/1418
1 c.1675+33C>T r.(=) p.(=) g.106819722C>T Copied from the Exome Variant Server FRMPD3_000033 1/4525 1/3107 0/1418
1 c.1676-6G>T r.(=) p.(=) g.106840545G>T Copied from the Exome Variant Server FRMPD3_000034 2/4525 2/3107 0/1418
1 c.1733G>A r.(?) p.(Ser578Asn) g.106840608G>A Copied from the Exome Variant Server FRMPD3_000035 3/4525 3/3107 0/1418
1 c.1737T>C r.(=) p.(=) g.106840612T>C Copied from the Exome Variant Server FRMPD3_000036 1/4525 0/3107 1/1418
1 c.1772C>T r.(?) p.(Ser591Leu) g.106840647C>T Copied from the Exome Variant Server FRMPD3_000037 1/4525 1/3107 0/1418
1 c.1857A>C r.(?) p.(Glu619Asp) g.106840732A>C Copied from the Exome Variant Server FRMPD3_000038 10/4525 0/3107 10/1418
1 c.1910G>C r.(?) p.(Arg637Pro) g.106840785G>C Copied from the Exome Variant Server FRMPD3_000039 1/4525 1/3107 0/1418
1 c.1956G>A r.(=) p.(=) g.106840831G>A Copied from the Exome Variant Server FRMPD3_000040 1/4525 0/3107 1/1418
1 c.2018G>A r.(?) p.(Arg673Gln) g.106840893G>A Copied from the Exome Variant Server FRMPD3_000041 1/4525 1/3107 0/1418
1 c.2110C>T r.(?) p.(Arg704Cys) g.106840985C>T Copied from the Exome Variant Server FRMPD3_000042 1/4517 0/3099 1/1418
1 c.2182_2184del r.(?) p.(Glu734del) g.106841057_106841059del Copied from the Exome Variant Server FRMPD3_000043 929/6610 594/4261 335/2349
1 c.2193G>A r.(=) p.(=) g.106841068G>A Copied from the Exome Variant Server FRMPD3_000044 569/4508 9/3095 560/1413
1 c.2300A>C r.(?) p.(Gln767Pro) g.106841175A>C Copied from the Exome Variant Server FRMPD3_000045 32/4525 0/3107 32/1418
1 c.2328T>G r.(=) p.(=) g.106841203T>G Copied from the Exome Variant Server FRMPD3_000046 10/4525 0/3107 10/1418
1 c.2379C>A r.(=) p.(=) g.106841254C>A Copied from the Exome Variant Server FRMPD3_000047 1/4525 0/3107 1/1418
1 c.2497G>C r.(?) p.(Gly833Arg) g.106841372G>C Copied from the Exome Variant Server FRMPD3_000048 1/4525 1/3107 0/1418
1 c.2497+9C>T r.(=) p.(=) g.106841381C>T Copied from the Exome Variant Server FRMPD3_000049 21/4525 19/3107 2/1418
1 c.2497+48A>T r.(=) p.(=) g.106841420A>T Copied from the Exome Variant Server FRMPD3_000050 1/4525 0/3107 1/1418
1 c.2498-47G>T r.(=) p.(=) g.106843486G>T Copied from the Exome Variant Server FRMPD3_000051 1/4519 1/3102 0/1417
1 c.2498-44C>T r.(=) p.(=) g.106843489C>T Copied from the Exome Variant Server FRMPD3_000052 1/4521 1/3103 0/1418
1 c.2610C>T r.(=) p.(=) g.106843645C>T Copied from the Exome Variant Server FRMPD3_000053 1/4525 1/3107 0/1418
1 c.2800G>A r.(?) p.(Ala934Thr) g.106843835G>A Copied from the Exome Variant Server FRMPD3_000054 9/4523 1/3105 8/1418
1 c.2804G>A r.(?) p.(Arg935Gln) g.106843839G>A Copied from the Exome Variant Server FRMPD3_000055 2/4523 2/3105 0/1418
1 c.2960G>A r.(?) p.(Gly987Asp) g.106843995G>A Copied from the Exome Variant Server FRMPD3_000056 1/4525 1/3107 0/1418
1 c.3060G>A r.(=) p.(=) g.106844095G>A Copied from the Exome Variant Server FRMPD3_000057 2/4525 0/3107 2/1418
1 c.3131A>G r.(?) p.(Asn1044Ser) g.106844166A>G Copied from the Exome Variant Server FRMPD3_000058 14/4524 0/3106 14/1418
1 c.3185A>C r.(?) p.(Glu1062Ala) g.106844220A>C Copied from the Exome Variant Server FRMPD3_000059 1/4523 0/3105 1/1418
1 c.3231G>A r.(?) p.(Met1077Ile) g.106844266G>A Copied from the Exome Variant Server FRMPD3_000060 1/4524 0/3106 1/1418
1 c.3362A>C r.(?) p.(Asp1121Ala) g.106844397A>C Copied from the Exome Variant Server FRMPD3_000061 1/4525 0/3107 1/1418
1 c.3387G>C r.(?) p.(Glu1129Asp) g.106844422G>C Copied from the Exome Variant Server FRMPD3_000062 1/4525 1/3107 0/1418
1 c.3430T>G r.(?) p.(Leu1144Val) g.106844465T>G Copied from the Exome Variant Server FRMPD3_000063 1/4525 1/3107 0/1418
1 c.3554C>T r.(?) p.(Ala1185Val) g.106844589C>T Copied from the Exome Variant Server FRMPD3_000064 2/4524 2/3106 0/1418
1 c.3555G>A r.(=) p.(=) g.106844590G>A Copied from the Exome Variant Server FRMPD3_000065 1/4524 0/3106 1/1418
1 c.3558G>A r.(=) p.(=) g.106844593G>A Copied from the Exome Variant Server FRMPD3_000066 2/4522 0/3105 2/1417
1 c.3735T>A r.(=) p.(=) g.106844770T>A Copied from the Exome Variant Server FRMPD3_000067 9/4414 1/3030 8/1384
1 c.3860C>T r.(?) p.(Ser1287Leu) g.106844895C>T Copied from the Exome Variant Server FRMPD3_000068 2/4525 2/3107 0/1418
1 c.3877C>T r.(?) p.(Arg1293Trp) g.106844912C>T Copied from the Exome Variant Server FRMPD3_000069 26/4525 0/3107 26/1418
1 c.3878G>A r.(?) p.(Arg1293Gln) g.106844913G>A Copied from the Exome Variant Server FRMPD3_000070 1/4525 0/3107 1/1418
1 c.3883C>T r.(?) p.(Arg1295Cys) g.106844918C>T Copied from the Exome Variant Server FRMPD3_000071 1/4525 0/3107 1/1418
1 c.3884G>C r.(?) p.(Arg1295Pro) g.106844919G>C Copied from the Exome Variant Server FRMPD3_000072 1/4525 1/3107 0/1418
1 c.3960A>G r.(=) p.(=) g.106844995A>G Copied from the Exome Variant Server FRMPD3_000073 1/4525 1/3107 0/1418
1 c.4028C>T r.(?) p.(Thr1343Ile) g.106845063C>T Copied from the Exome Variant Server FRMPD3_000074 9/4524 8/3106 1/1418
1 c.4173C>T r.(=) p.(=) g.106845208C>T Copied from the Exome Variant Server FRMPD3_000075 1/4524 0/3106 1/1418
1 c.4195C>T r.(?) p.(Arg1399Trp) g.106845230C>T Copied from the Exome Variant Server FRMPD3_000076 1/4524 1/3106 0/1418
1 c.4200G>A r.(=) p.(=) g.106845235G>A Copied from the Exome Variant Server FRMPD3_000077 1/4525 1/3107 0/1418
1 c.4310C>T r.(?) p.(Ser1437Phe) g.106845345C>T Copied from the Exome Variant Server FRMPD3_000078 7/4525 7/3107 0/1418
1 c.4368G>A r.(=) p.(=) g.106845403G>A Copied from the Exome Variant Server FRMPD3_000079 14/4525 0/3107 14/1418
1 c.4374C>T r.(=) p.(=) g.106845409C>T Copied from the Exome Variant Server FRMPD3_000080 3/4525 3/3107 0/1418
1 c.4375G>A r.(?) p.(Glu1459Lys) g.106845410G>A Copied from the Exome Variant Server FRMPD3_000081 1/4525 1/3107 0/1418
1 c.4574C>T r.(?) p.(Thr1525Met) g.106845609C>T Copied from the Exome Variant Server FRMPD3_000082 1/4525 0/3107 1/1418
1 c.4604C>T r.(?) p.(Ala1535Val) g.106845639C>T Copied from the Exome Variant Server FRMPD3_000083 1/4525 1/3107 0/1418
1 c.4635C>T r.(=) p.(=) g.106845670C>T Copied from the Exome Variant Server FRMPD3_000084 5/4525 5/3107 0/1418
1 c.4674C>T r.(=) p.(=) g.106845709C>T Copied from the Exome Variant Server FRMPD3_000085 7/4525 0/3107 7/1418
1 c.4678C>T r.(=) p.(=) g.106845713C>T Copied from the Exome Variant Server FRMPD3_000086 1/4525 1/3107 0/1418
1 c.4683C>T r.(=) p.(=) g.106845718C>T Copied from the Exome Variant Server FRMPD3_000087 1/4525 1/3107 0/1418
1 c.4689C>G r.(?) p.(Asp1563Glu) g.106845724C>G Copied from the Exome Variant Server FRMPD3_000088 2/4525 0/3107 2/1418
1 c.4785C>T r.(=) p.(=) g.106845820C>T Copied from the Exome Variant Server FRMPD3_000089 11/4525 11/3107 0/1418
1 c.4828G>A r.(?) p.(Glu1610Lys) g.106845863G>A Copied from the Exome Variant Server FRMPD3_000090 1/4525 0/3107 1/1418
1 c.4909C>T r.(?) p.(Arg1637Cys) g.106845944C>T Copied from the Exome Variant Server FRMPD3_000091 1/4524 0/3106 1/1418
1 c.5110G>A r.(?) p.(Glu1704Lys) g.106846145G>A Copied from the Exome Variant Server FRMPD3_000092 1/4525 0/3107 1/1418
1 c.5161C>T r.(?) p.(Arg1721Cys) g.106846196C>T Copied from the Exome Variant Server FRMPD3_000093 1/4525 1/3107 0/1418
1 c.5165G>A r.(?) p.(Arg1722His) g.106846200G>A Copied from the Exome Variant Server FRMPD3_000094 1/4525 0/3107 1/1418
1 c.5229G>A r.(=) p.(=) g.106846264G>A Copied from the Exome Variant Server FRMPD3_000096 1/4525 0/3107 1/1418
1 c.5257C>T r.(?) p.(Arg1753Trp) g.106846292C>T Copied from the Exome Variant Server FRMPD3_000097 1/4525 1/3107 0/1418
1 c.5275C>T r.(?) p.(Arg1759Cys) g.106846310C>T Copied from the Exome Variant Server FRMPD3_000098 1/4525 1/3107 0/1418
1 c.5280C>T r.(=) p.(=) g.106846315C>T Copied from the Exome Variant Server FRMPD3_000099 1/4525 1/3107 0/1418
1 c.5443_5445del r.(?) p.(Gln1821del) g.106846478_106846480del Copied from the Exome Variant Server FRMPD3_000100 125/6372 74/4049 51/2323
1 c.5463_5466del r.(?) p.(Val1822Glnfs*21) g.106846498_106846501del Copied from the Exome Variant Server FRMPD3_000095 85/7029 68/4487 17/2542
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