Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
12-11174282-T-C | TAS2R19 | c.889A>G | p.Met297Val | Missense | 1/1 | - |
7-80103570-A-G | GNAT3 | c.587T>C | p.Phe196Ser | Missense | 5/8 | - |
12-11244591-C-T | TAS2R43 | c.238G>A | p.Val80Ile | Missense | 1/1 | - |
12-11244687-G-C | TAS2R43 | c.142C>G | p.Leu48Val | Missense | 1/1 | - |
12-11183832-G-A | TAS2R31 | c.103C>T | p.Arg35Trp | Missense | 1/1 | - |
12-11244243-T-G | TAS2R43 | c.586A>C | p.Met196Leu | Missense | 1/1 | - |
12-11244369-G-T | TAS2R43 | c.460C>A | p.Arg154Arg | Synonymous | 1/1 | - |
7-80117928-T-A | GNAT3 | c.226A>T | p.Asn76Tyr | Missense | 3/8 | - |
12-11183485-T-G | TAS2R31 | c.450A>C | p.Lys150Asn | Missense | 1/1 | - |
12-11183753-A-C | TAS2R31 | c.182T>G | p.Val61Gly | Missense | 1/1 | - |
12-11214498-T-C | TAS2R46 | c.396A>G | p.Ile132Met | Missense | 1/1 | - |
12-11183475-G-C | TAS2R31 | c.460C>G | p.Arg154Gly | Missense | 1/1 | - |
12-11183475-G-A | TAS2R31 | c.460C>T | p.Arg154Trp | Missense | 1/1 | - |
12-11214386-T-G | TAS2R46 | c.508A>C | p.Ser170Arg | Missense | 1/1 | - |
12-11214386-T-C | TAS2R46 | c.508A>G | p.Ser170Gly | Missense | 1/1 | - |
12-11183123-T-C | TAS2R31 | c.812A>G | p.Tyr271Cys | Missense | 1/1 | - |
12-11183485-T-A | TAS2R31 | c.450A>T | p.Lys150Asn | Missense | 1/1 | - |
7-141478832-G-C | TAS2R4 | c.544G>C | p.Val182Leu | Missense | 1/1 | - |
12-11183232-G-A | TAS2R31 | c.703C>T | p.Leu235Phe | Missense | 1/1 | - |
12-11138852-C-T | TAS2R50 | c.608G>A | p.Cys203Tyr | Missense | 1/1 | - |
12-11183114-A-G | TAS2R31 | c.821T>C | p.Ile274Thr | Missense | 1/1 | - |
12-10962115-A-G | TAS2R9 | c.560T>C | p.Val187Ala | Missense | 1/1 | - |
12-11244285-C-G | TAS2R43 | c.544G>C | p.Val182Leu | Missense | 1/1 | - |
12-11175077-C-T | TAS2R19 | c.94G>A | p.Val32Ile | Missense | 1/1 | - |
7-141464847-G-A | TAS2R3 | c.889G>A | p.Val297Met | Missense | 1/1 | - |
12-11150046-G-T | TAS2R20 | c.429C>A | p.His143Gln | Missense | 1/1 | - |
12-11244557-A-G | TAS2R43 | c.272T>C | p.Ile91Thr | Missense | 1/1 | - |
7-141478392-G-C | TAS2R4 | c.104G>C | p.Trp35Ser | Missense | 1/1 | - |
7-141479082-G-A | TAS2R4 | c.794G>A | p.Cys265Tyr | Missense | 1/1 | - |
12-11244126-G-A | TAS2R43 | c.703C>T | p.Leu235Phe | Missense | 1/1 | - |
7-141464616-A-C | TAS2R3 | c.658A>C | p.Ser220Arg | Missense | 1/1 | - |
12-11183336-C-A | TAS2R31 | c.599G>T | p.Cys200Phe | Missense | 1/1 | - |
12-11183541-T-C | TAS2R31 | c.394A>G | p.Met132Val | Missense | 1/1 | - |
12-11214634-A-C | TAS2R46 | c.260T>G | p.Val87Gly | Missense | 1/1 | - |
12-11214212-A-T | TAS2R46 | c.682T>A | p.Leu228Met | Missense | 1/1 | - |
7-141464667-C-T | TAS2R3 | c.709C>T | p.Leu237Phe | Missense | 1/1 | - |
12-11244591-C-A | TAS2R43 | c.238G>T | p.Val80Leu | Missense | 1/1 | - |
12-11286249-T-C | TAS2R30 | c.595A>G | p.Ile199Val | Missense | 1/1 | - |
12-11244378-C-G | TAS2R43 | c.451G>C | p.Glu151Gln | Missense | 1/1 | - |
12-11183046-C-A | TAS2R31 | c.889G>T | p.Val297Leu | Missense | 1/1 | - |
12-11183046-C-T | TAS2R31 | c.889G>A | p.Val297Met | Missense | 1/1 | - |
12-11244303-T-C | TAS2R43 | c.526A>G | p.Asn176Asp | Missense | 1/1 | - |
12-11244036-T-G | TAS2R43 | c.793A>C | p.Lys265Gln | Missense | 1/1 | - |
12-11244036-T-C | TAS2R43 | c.793A>G | p.Lys265Glu | Missense | 1/1 | - |
12-11061122-T-C | TAS2R13 | c.776A>G | p.Asn259Ser | Missense | 1/1 | - |
12-11183576-T-C | TAS2R31 | c.359A>G | p.His120Arg | Missense | 1/1 | - |
12-11286088-A-C | TAS2R30 | c.756T>G | p.Phe252Leu | Missense | 1/1 | - |
7-141464526-C-G | TAS2R3 | c.568C>G | p.Leu190Val | Missense | 1/1 | - |
12-11183115-T-C | TAS2R31 | c.820A>G | p.Ile274Val | Missense | 1/1 | - |
12-11174276-G-A | TAS2R19 | c.895C>T | p.Arg299Cys | Missense | 1/1 | - |
12-11183035-C-T | TAS2R31 | c.900G>A | p.Trp300* | Nonsense | 1/1 | - |
7-141478800-G-A | TAS2R4 | c.512G>A | p.Ser171Asn | Missense | 1/1 | - |
12-11244319-A-T | TAS2R43 | c.510T>A | p.Ser170Arg | Missense | 1/1 | - |
12-11214212-A-C | TAS2R46 | c.682T>G | p.Leu228Val | Missense | 1/1 | - |
12-11286184-G-A | TAS2R30 | c.660C>T | p.Ser220Ser | Synonymous | 1/1 | - |
12-11286569-T-C | TAS2R30 | c.275A>G | p.Asn92Ser | Missense | 1/1 | - |
12-11091432-C-T | TAS2R14 | c.375G>A | p.Arg125Arg | Synonymous | 1/1 | - |
12-11183223-A-G | TAS2R31 | c.712T>C | p.Cys238Arg | Missense | 1/1 | - |
12-10978402-G-A | TAS2R10 | c.467C>T | p.Thr156Met | Missense | 1/1 | - |
12-11183451-A-T | TAS2R31 | c.484T>A | p.Leu162Met | Missense | 1/1 | - |
12-11183177-C-T | TAS2R31 | c.758G>A | p.Gly253Glu | Missense | 1/1 | - |
12-11286184-G-T | TAS2R30 | c.660C>A | p.Ser220Arg | Missense | 1/1 | - |
12-11183427-T-G | TAS2R31 | c.508A>C | p.Ser170Arg | Missense | 1/1 | - |
12-11244017-T-G | TAS2R43 | c.812A>C | p.Tyr271Ser | Missense | 1/1 | - |
12-11183451-A-C | TAS2R31 | c.484T>G | p.Leu162Val | Missense | 1/1 | - |
12-11174372-C-G | TAS2R19 | c.799G>C | p.Val267Leu | Missense | 1/1 | - |
12-11149711-C-A | TAS2R20 | c.764G>T | p.Arg255Leu | Missense | 1/1 | - |
12-11149720-A-G | TAS2R20 | c.755T>C | p.Phe252Ser | Missense | 1/1 | - |
19-49671525-A-G | TRPM4 | c.457A>G | p.Ile153Val | Missense | 5/25 | - |
12-11338614-A-G | TAS2R42 | c.930T>C | p.Asn310Asn | Synonymous | 1/1 | - |
7-122635024-C-T | TAS2R16 | c.665G>A | p.Arg222His | Missense | 1/1 | - |
12-11338614-A-T | TAS2R42 | c.930T>A | p.Asn310Lys | Missense | 1/1 | - |
12-11183708-T-C | TAS2R31 | c.227A>G | p.Tyr76Cys | Missense | 1/1 | - |
12-11244252-G-A | TAS2R43 | c.577C>T | p.Leu193Leu | Synonymous | 1/1 | - |
12-11091551-T-C | TAS2R14 | c.256A>G | p.Thr86Ala | Missense | 1/1 | - |
12-11214455-T-C | TAS2R46 | c.439A>G | p.Ile147Val | Missense | 1/1 | - |
12-11244369-G-A | TAS2R43 | c.460C>T | p.Arg154Trp | Missense | 1/1 | - |
12-11214847-G-A | TAS2R46 | c.47C>T | p.Thr16Ile | Missense | 1/1 | - |
7-141478430-C-G | TAS2R4 | c.142C>G | p.Leu48Val | Missense | 1/1 | - |
12-11286318-T-C | TAS2R30 | c.526A>G | p.Asn176Asp | Missense | 1/1 | - |
12-11174795-T-G | TAS2R19 | c.376A>C | p.Lys126Gln | Missense | 1/1 | - |
12-11214351-G-C | TAS2R46 | c.543C>G | p.Ile181Met | Missense | 1/1 | - |
7-122635173-A-C | TAS2R16 | c.516T>G | p.Asn172Lys | Missense | 1/1 | - |
12-11150033-G-T | TAS2R20 | c.442C>A | p.His148Asn | Missense | 1/1 | - |
12-11174302-A-G | TAS2R19 | c.869T>C | p.Phe290Ser | Missense | 1/1 | - |
12-11183506-T-A | TAS2R31 | c.429A>T | p.Gln143His | Missense | 1/1 | - |
12-11183837-A-G | TAS2R31 | c.98T>C | p.Ile33Thr | Missense | 1/1 | - |
12-11338957-A-G | TAS2R42 | c.587T>C | p.Phe196Ser | Missense | 1/1 | - |
7-141464618-C-G | TAS2R3 | c.660C>G | p.Ser220Arg | Missense | 1/1 | - |
12-11090910-CCT-TGT | TAS2R14 | c.895_897delAGGinsTGT | p.Arg299Cys | Missense | 1/1 | - |
12-11174715-T-A | TAS2R19 | c.456A>T | p.Arg152Ser | Missense | 1/1 | - |
12-11244071-C-T | TAS2R43 | c.758G>A | p.Gly253Glu | Missense | 1/1 | - |
7-141478308-T-C | TAS2R4 | c.20T>C | p.Phe7Ser | Missense | 1/1 | - |
12-11183327-C-T | TAS2R31 | c.608G>A | p.Cys203Tyr | Missense | 1/1 | - |
12-11183253-A-T | TAS2R31 | c.682T>A | p.Leu228Met | Missense | 1/1 | - |
12-11150240-T-C | TAS2R20 | c.235A>G | p.Lys79Glu | Missense | 1/1 | - |
12-11183036-C-T | TAS2R31 | c.899G>A | p.Trp300* | Nonsense | 1/1 | - |
12-11338613-C-G | TAS2R42 | c.931G>C | p.Ala311Pro | Missense | 1/1 | - |
12-11244309-A-G | TAS2R43 | c.520T>C | p.Phe174Leu | Missense | 1/1 | - |
12-11244261-G-C | TAS2R43 | c.568C>G | p.Leu190Val | Missense | 1/1 | - |
12-11244323-T-C | TAS2R43 | c.506A>G | p.Lys169Arg | Missense | 1/1 | - |
12-11244390-T-C | TAS2R43 | c.439A>G | p.Ile147Val | Missense | 1/1 | - |
12-11183642-A-G | TAS2R31 | c.293T>C | p.Leu98Pro | Missense | 1/1 | - |
12-11174327-C-T | TAS2R19 | c.844G>A | p.Gly282Arg | Missense | 1/1 | - |
12-11244117-A-G | TAS2R43 | c.712T>C | p.Cys238Arg | Missense | 1/1 | - |
12-11183217-C-T | TAS2R31 | c.718G>A | p.Val240Ile | Missense | 1/1 | - |
12-11091206-G-A | TAS2R14 | c.601C>T | p.Leu201Phe | Missense | 1/1 | - |
12-11183092-C-A | TAS2R31 | c.843G>T | p.Trp281Cys | Missense | 1/1 | - |
7-141464169-T-C | TAS2R3 | c.211T>C | p.Phe71Leu | Missense | 1/1 | - |
12-11244483-A-G | TAS2R43 | c.346T>C | p.Phe116Leu | Missense | 1/1 | - |
12-11183496-T-C | TAS2R31 | c.439A>G | p.Ile147Val | Missense | 1/1 | - |
7-141464535-T-A | TAS2R3 | c.577T>A | p.Leu193Ile | Missense | 1/1 | - |
12-11244470-T-C | TAS2R43 | c.359A>G | p.His120Arg | Missense | 1/1 | - |
12-11149769-T-C | TAS2R20 | c.706A>G | p.Ile236Val | Missense | 1/1 | - |
12-11244323-T-A | TAS2R43 | c.506A>T | p.Lys169Met | Missense | 1/1 | - |
12-11091432-C-A | TAS2R14 | c.375G>T | p.Arg125Ser | Missense | 1/1 | - |
12-11174380-C-T | TAS2R19 | c.791G>A | p.Cys264Tyr | Missense | 1/1 | - |
12-11244435-T-C | TAS2R43 | c.394A>G | p.Met132Val | Missense | 1/1 | - |
12-11183421-C-T | TAS2R31 | c.514G>A | p.Val172Met | Missense | 1/1 | - |
7-141464171-C-A | TAS2R3 | c.213C>A | p.Phe71Leu | Missense | 1/1 | - |
12-11183186-C-T | TAS2R31 | c.749G>A | p.Trp250* | Nonsense | 1/1 | - |
12-11183185-C-T | TAS2R31 | c.750G>A | p.Trp250* | Nonsense | 1/1 | - |
12-11244194-T-C | TAS2R43 | c.635A>G | p.His212Arg | Missense | 1/1 | - |
7-141464618-C-A | TAS2R3 | c.660C>A | p.Ser220Arg | Missense | 1/1 | - |
12-11286448-T-C | TAS2R30 | c.396A>G | p.Ile132Met | Missense | 1/1 | - |
12-11183108-G-C | TAS2R31 | c.827C>G | p.Pro276Arg | Missense | 1/1 | - |
12-11244072-C-T | TAS2R43 | c.757G>A | p.Gly253Arg | Missense | 1/1 | - |
12-11244072-C-G | TAS2R43 | c.757G>C | p.Gly253Arg | Missense | 1/1 | - |
12-11244008-A-G | TAS2R43 | c.821T>C | p.Ile274Thr | Missense | 1/1 | - |
12-11183484-C-T | TAS2R31 | c.451G>A | p.Glu151Lys | Missense | 1/1 | - |
7-141464217-G-A | TAS2R3 | c.259G>A | p.Val87Ile | Missense | 1/1 | - |
12-11183484-C-G | TAS2R31 | c.451G>C | p.Glu151Gln | Missense | 1/1 | - |
12-11244319-A-C | TAS2R43 | c.510T>G | p.Ser170Arg | Missense | 1/1 | - |
12-11339020-T-A | TAS2R42 | c.524A>T | p.Tyr175Phe | Missense | 1/1 | - |
12-11339020-T-C | TAS2R42 | c.524A>G | p.Tyr175Cys | Missense | 1/1 | - |
12-11183133-T-C | TAS2R31 | c.802A>G | p.Arg268Gly | Missense | 1/1 | - |
7-141464409-G-C | TAS2R3 | c.451G>C | p.Glu151Gln | Missense | 1/1 | - |
12-11174845-T-G | TAS2R19 | c.326A>C | p.Lys109Thr | Missense | 1/1 | - |
12-11214368-T-G | TAS2R46 | c.526A>C | p.Asn176His | Missense | 1/1 | - |
12-11183224-T-A | TAS2R31 | c.711A>T | p.Leu237Phe | Missense | 1/1 | - |
12-11338781-C-A | TAS2R42 | c.763G>T | p.Gly255Trp | Missense | 1/1 | - |
12-11174271-T-C | TAS2R19 | c.900A>G | - | Missense | 1/1 | - |
12-11244299-A-G | TAS2R43 | c.530T>C | p.Met177Thr | Missense | 1/1 | - |
12-11183793-G-A | TAS2R31 | c.142C>T | p.Leu48Phe | Missense | 1/1 | - |
12-11183793-G-C | TAS2R31 | c.142C>G | p.Leu48Val | Missense | 1/1 | - |
12-11183676-C-T | TAS2R31 | c.259G>A | p.Val87Ile | Missense | 1/1 | - |
12-11338669-C-T | TAS2R42 | c.875G>A | p.Arg292Gln | Missense | 1/1 | - |
12-11338669-C-A | TAS2R42 | c.875G>T | p.Arg292Leu | Missense | 1/1 | - |
12-11338613-C-T | TAS2R42 | c.931G>A | p.Ala311Thr | Missense | 1/1 | - |
12-11214326-G-A | TAS2R46 | c.568C>T | p.Leu190Leu | Synonymous | 1/1 | - |
12-11214326-G-C | TAS2R46 | c.568C>G | p.Leu190Val | Missense | 1/1 | - |
12-11214368-T-C | TAS2R46 | c.526A>G | p.Asn176Asp | Missense | 1/1 | - |
12-11183722-A-C | TAS2R31 | c.213T>G | p.Phe71Leu | Missense | 1/1 | - |
12-11244149-G-A | TAS2R43 | c.680C>T | p.Ala227Val | Missense | 1/1 | - |
12-11174390-G-A | TAS2R19 | c.781C>T | p.Leu261Phe | Missense | 1/1 | - |
7-141478574-G-C | TAS2R4 | c.286G>C | p.Val96Leu | Missense | 1/1 | - |
12-11244319-A-G | TAS2R43 | c.510T>C | p.Ser170Ser | Synonymous | 1/1 | - |
12-11183121-G-A | TAS2R31 | c.814C>T | p.Pro272Ser | Missense | 1/1 | - |
7-141490238-G-T | TAS2R5 | c.77G>T | p.Ser26Ile | Missense | 1/1 | - |
7-141464171-C-G | TAS2R3 | c.213C>G | p.Phe71Leu | Missense | 1/1 | - |
12-11183406-C-T | TAS2R31 | c.529G>A | p.Ala177Thr | Missense | 1/1 | - |
12-11183052-G-A | TAS2R31 | c.883C>T | p.Arg295Trp | Missense | 1/1 | - |
12-11243929-C-T | TAS2R43 | c.900G>A | p.Trp300* | Nonsense | 1/1 | - |
12-11244603-T-A | TAS2R43 | c.226A>T | p.Asn76Tyr | Missense | 1/1 | - |
12-11243960-A-T | TAS2R43 | c.869T>A | p.Phe290Tyr | Missense | 1/1 | - |
12-11243960-A-G | TAS2R43 | c.869T>C | p.Phe290Ser | Missense | 1/1 | - |
12-11244369-G-C | TAS2R43 | c.460C>G | p.Arg154Gly | Missense | 1/1 | - |
12-11244068-C-T | TAS2R43 | c.761G>A | p.Ser254Asn | Missense | 1/1 | - |
12-11244068-C-A | TAS2R43 | c.761G>T | p.Ser254Ile | Missense | 1/1 | - |
12-11244252-G-T | TAS2R43 | c.577C>A | p.Leu193Ile | Missense | 1/1 | - |
12-11286422-A-G | TAS2R30 | c.422T>C | p.Val141Ala | Missense | 1/1 | - |
12-10961978-C-T | TAS2R9 | c.697G>A | p.Ala233Thr | Missense | 1/1 | - |
12-11183255-G-A | TAS2R31 | c.680C>T | p.Ala227Val | Missense | 1/1 | - |
12-11244321-T-G | TAS2R43 | c.508A>C | p.Ser170Arg | Missense | 1/1 | - |
12-11183142-T-G | TAS2R31 | c.793A>C | p.Lys265Gln | Missense | 1/1 | - |
12-11244017-T-C | TAS2R43 | c.812A>G | p.Tyr271Cys | Missense | 1/1 | - |
12-11286214-C-G | TAS2R30 | c.630G>C | p.Gln210His | Missense | 1/1 | - |
12-11286314-A-G | TAS2R30 | c.530T>C | p.Met177Thr | Missense | 1/1 | - |
12-11338750-T-G | TAS2R42 | c.794A>C | p.Tyr265Ser | Missense | 1/1 | - |
12-11338750-T-C | TAS2R42 | c.794A>G | p.Tyr265Cys | Missense | 1/1 | - |
12-11244725-C-G | TAS2R43 | c.104G>C | p.Trp35Ser | Missense | 1/1 | - |
12-11214437-T-C | TAS2R46 | c.457A>G | p.Ile153Val | Missense | 1/1 | - |
12-11183178-C-T | TAS2R31 | c.757G>A | p.Gly253Arg | Missense | 1/1 | - |
12-11183178-C-G | TAS2R31 | c.757G>C | p.Gly253Arg | Missense | 1/1 | - |
7-122635183-T-C | TAS2R16 | c.506A>G | p.Lys169Arg | Missense | 1/1 | - |
12-10961765-G-A | TAS2R9 | c.910C>T | p.Leu304Phe | Missense | 1/1 | - |
12-11174286-C-T | TAS2R19 | c.885G>A | p.Trp295* | Nonsense | 1/1 | - |
12-11183066-A-T | TAS2R31 | c.869T>A | p.Phe290Tyr | Missense | 1/1 | - |
12-11183697-C-A | TAS2R31 | c.238G>T | p.Val80Leu | Missense | 1/1 | - |
12-11174286-C-A | TAS2R19 | c.885G>T | p.Trp295Cys | Missense | 1/1 | - |
12-11174397-T-A | TAS2R19 | c.774A>T | p.Lys258Asn | Missense | 1/1 | - |
12-11244554-T-C | TAS2R43 | c.275A>G | p.Asn92Ser | Missense | 1/1 | - |
12-11244687-G-A | TAS2R43 | c.142C>T | p.Leu48Phe | Missense | 1/1 | - |
12-11244015-G-A | TAS2R43 | c.814C>T | p.Pro272Ser | Missense | 1/1 | - |
12-11244117-A-C | TAS2R43 | c.712T>G | p.Cys238Gly | Missense | 1/1 | - |
7-141464501-C-G | TAS2R3 | c.543C>G | p.Ile181Met | Missense | 1/1 | - |
12-11244234-T-C | TAS2R43 | c.595A>G | p.Ile199Val | Missense | 1/1 | - |
12-11244234-T-G | TAS2R43 | c.595A>C | p.Ile199Leu | Missense | 1/1 | - |
12-11243947-A-C | TAS2R43 | c.882T>G | p.Phe294Leu | Missense | 1/1 | - |
12-11243947-A-T | TAS2R43 | c.882T>A | p.Phe294Leu | Missense | 1/1 | - |
12-11183506-T-G | TAS2R31 | c.429A>C | p.Gln143His | Missense | 1/1 | - |
12-11174498-T-C | TAS2R19 | c.673A>G | p.Ile225Val | Missense | 1/1 | - |
12-11244230-C-A | TAS2R43 | c.599G>T | p.Cys200Phe | Missense | 1/1 | - |
12-11244027-T-A | TAS2R43 | c.802A>T | p.Arg268* | Nonsense | 1/1 | - |
12-11244027-T-C | TAS2R43 | c.802A>G | p.Arg268Gly | Missense | 1/1 | - |
12-11244199-C-G | TAS2R43 | c.630G>C | p.Gln210His | Missense | 1/1 | - |
12-11150054-C-T | TAS2R20 | c.421G>A | p.Val141Ile | Missense | 1/1 | - |
12-11214472-A-G | TAS2R46 | c.422T>C | p.Val141Ala | Missense | 1/1 | - |
12-11214145-C-T | TAS2R46 | c.749G>A | p.Trp250* | Nonsense | 1/1 | - |
12-11183286-G-C | TAS2R31 | c.649C>G | p.Gln217Glu | Missense | 1/1 | - |
12-11244009-T-C | TAS2R43 | c.820A>G | p.Ile274Val | Missense | 1/1 | - |
12-11244378-C-T | TAS2R43 | c.451G>A | p.Glu151Lys | Missense | 1/1 | - |
12-11183300-T-C | TAS2R31 | c.635A>G | p.His212Arg | Missense | 1/1 | - |
7-141464718-TCA-AAC | TAS2R3 | c.760_762delTCAinsAAC | p.Ser254Asn | Missense | 1/1 | - |