Full data view for gene FGF3

Information The variants shown are described using the NM_005247.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-23_-21del r.(=) p.(=) g.69633722_69633724del Copied from the Exome Variant Server FGF3_000047 14/3080 14/2206 0/874 - - - - - - -
?/? c.221-52_221-51insGCCC r.(=) p.(=) g.69631242_69631243insGGGC Copied from the Exome Variant Server FGF3_000046 238/12326 117/8132 121/4194 - - - - - - -
?/? c.221-49G>A r.(=) p.(=) g.69631240C>T Copied from the Exome Variant Server FGF3_000045 1/12924 1/8552 0/4372 - - - - - - -
?/? c.221-48C>T r.(=) p.(=) g.69631239G>A Copied from the Exome Variant Server FGF3_000044 1/12928 1/8554 0/4374 - - - - - - -
?/? c.221-33C>T r.(=) p.(=) g.69631224G>A Copied from the Exome Variant Server FGF3_000043 2/12988 0/8588 2/4400 - - - - - - -
?/? c.237G>A r.(=) p.(=) g.69631175C>T Copied from the Exome Variant Server FGF3_000042 1/12988 0/8588 1/4400 - - - - - - -
?/? c.279C>T r.(=) p.(=) g.69631133G>A Copied from the Exome Variant Server FGF3_000041 3/12988 0/8588 3/4400 - - - - - - -
?/? c.303G>C r.(?) p.(Lys101Asn) g.69631109C>G Copied from the Exome Variant Server FGF3_000040 42/12988 0/8588 42/4400 - - - - - - -
?/? c.323C>T r.(?) p.(Ser108Leu) g.69631089G>A Copied from the Exome Variant Server FGF3_000039 1/12988 0/8588 1/4400 - - - - - - -
?/? c.324G>C r.(=) p.(=) g.69631088C>G Copied from the Exome Variant Server FGF3_000038 1/12988 0/8588 1/4400 - - - - - - -
?/? c.324+11G>A r.(=) p.(=) g.69631077C>T Copied from the Exome Variant Server FGF3_000037 29/12988 29/8588 0/4400 - - - - - - -
?/? c.324+15T>C r.(=) p.(=) g.69631073A>G Copied from the Exome Variant Server FGF3_000036 80/12988 0/8588 80/4400 - - - - - - -
?/? c.324+18C>T r.(=) p.(=) g.69631070G>A Copied from the Exome Variant Server FGF3_000035 1/12988 1/8588 0/4400 - - - - - - -
?/? c.324+19G>A r.(=) p.(=) g.69631069C>T Copied from the Exome Variant Server FGF3_000034 2/12988 0/8588 2/4400 - - - - - - -
?/? c.324+29G>A r.(=) p.(=) g.69631059C>T Copied from the Exome Variant Server FGF3_000033 3/12988 3/8588 0/4400 - - - - - - -
?/? c.324+34C>T r.(=) p.(=) g.69631054G>A Copied from the Exome Variant Server FGF3_000032 1/12988 1/8588 0/4400 - - - - - - -
?/? c.324+42C>T r.(=) p.(=) g.69631046G>A Copied from the Exome Variant Server FGF3_000031 70/12988 64/8588 6/4400 - - - - - - -
?/? c.325-47T>C r.(=) p.(=) g.69625515A>G Copied from the Exome Variant Server FGF3_000030 1/12790 1/8454 0/4336 - - - - - - -
?/? c.325-45C>T r.(=) p.(=) g.69625513G>A Copied from the Exome Variant Server FGF3_000029 1/12802 0/8464 1/4338 - - - - - - -
?/? c.325-43A>G r.(=) p.(=) g.69625511T>C Copied from the Exome Variant Server FGF3_000028 5798/12806 4149/8464 1649/4342 - - - - - - -
?/? c.325-19T>C r.(=) p.(=) g.69625487A>G Copied from the Exome Variant Server FGF3_000027 75/12910 0/8534 75/4376 - - - - - - -
?/? c.325-6C>T r.(=) p.(=) g.69625474G>A Copied from the Exome Variant Server FGF3_000026 1/12944 1/8554 0/4390 - - - - - - -
?/? c.325-5C>T r.spl? p.? g.69625473G>A Copied from the Exome Variant Server FGF3_000025 313/12942 289/8552 24/4390 - - - - - - -
?/? c.336C>T r.(=) p.(=) g.69625457G>A Copied from the Exome Variant Server FGF3_000024 1/12950 0/8562 1/4388 - - - - - - -
?/? c.358C>T r.(?) p.(Arg120Trp) g.69625435G>A Copied from the Exome Variant Server FGF3_000023 1/12964 1/8572 0/4392 - - - - - - -
?/? c.362T>A r.(?) p.(Ile121Asn) g.69625431A>T Copied from the Exome Variant Server FGF3_000022 1/12970 1/8574 0/4396 - - - - - - -
?/? c.394C>T r.(?) p.(Arg132Trp) g.69625399G>A Copied from the Exome Variant Server FGF3_000021 1/12976 1/8580 0/4396 - - - - - - -
?/? c.398T>A r.(?) p.(Leu133Gln) g.69625395A>T Copied from the Exome Variant Server FGF3_000020 1/12976 1/8580 0/4396 - - - - - - -
?/? c.408G>A r.(=) p.(=) g.69625385C>T Copied from the Exome Variant Server FGF3_000019 1091/12980 895/8584 196/4396 - - - - - - -
?/? c.409G>T r.(?) p.(Val137Leu) g.69625384C>A Copied from the Exome Variant Server FGF3_000018 1/12978 0/8584 1/4394 - - - - - - -
?/? c.420G>A r.(=) p.(=) g.69625373C>T Copied from the Exome Variant Server FGF3_000017 2/12972 0/8576 2/4396 - - - - - - -
?/? c.448G>A r.(?) p.(Glu150Lys) g.69625345C>T Copied from the Exome Variant Server FGF3_000016 5/12976 0/8580 5/4396 - - - - - - -
?/? c.463G>A r.(?) p.(Val155Met) g.69625330C>T Copied from the Exome Variant Server FGF3_000015 1/12980 1/8580 0/4400 - - - - - - -
?/? c.480G>A r.(=) p.(=) g.69625313C>T Copied from the Exome Variant Server FGF3_000014 1/12968 1/8570 0/4398 - - - - - - -
?/? c.498C>T r.(=) p.(=) g.69625295G>A Copied from the Exome Variant Server FGF3_000013 1/12924 1/8546 0/4378 - - - - - - -
?/? c.512G>A r.(?) p.(Arg171His) g.69625281C>T Copied from the Exome Variant Server FGF3_000012 6/12914 0/8530 6/4384 - - - - - - -
?/? c.554A>C r.(?) p.(His185Pro) g.69625239T>G Copied from the Exome Variant Server FGF3_000011 1/12926 0/8546 1/4380 - - - - - - -
?/? c.570G>A r.(?) p.(Met190Ile) g.69625223C>T Copied from the Exome Variant Server FGF3_000010 1/12914 1/8538 0/4376 - - - - - - -
?/? c.606del r.(?) p.(Gly203Valfs*120) g.69625187del Copied from the Exome Variant Server FGF3_000009 1/12128 1/8004 0/4124 - - - - - - -
?/? c.609T>C r.(=) p.(=) g.69625184A>G Copied from the Exome Variant Server FGF3_000008 1/12772 1/8454 0/4318 - - - - - - -
?/? c.619_620insC r.(?) p.(Gln207Profs*13) g.69625173_69625174insG Copied from the Exome Variant Server FGF3_000007 200/11990 114/7908 86/4082 - - - - - - -
?/? c.625C>T r.(?) p.(Arg209*) g.69625168G>A Copied from the Exome Variant Server FGF3_000006 1/12746 1/8430 0/4316 - - - - - - -
?/? c.628C>T r.(?) p.(Arg210Trp) g.69625165G>A Copied from the Exome Variant Server FGF3_000005 1/12716 1/8412 0/4304 - - - - - - -
?/? c.635G>T r.(?) p.(Arg212Leu) g.69625158C>A Copied from the Exome Variant Server FGF3_000004 1/12746 1/8438 0/4308 - - - - - - -
?/? c.636G>A r.(=) p.(=) g.69625157C>T Copied from the Exome Variant Server FGF3_000003 1/12754 1/8446 0/4308 - - - - - - -
?/? c.648C>T r.(=) p.(=) g.69625145G>A Copied from the Exome Variant Server FGF3_000002 9/12858 0/8500 9/4358 - - - - - - -
?/? c.*19G>A r.(=) p.(=) g.69625054C>T Copied from the Exome Variant Server FGF3_000001 1/12078 1/8000 0/4078 - - - - - - -
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