140G>A p.Cys47Tyr Missense DM - MPS one c.212+1G>T Intronic IVS DM Indeed MPS 1 c.213-11T>G Intronic IVS DM Sure MPS 1 c.1067A>G p.Gln356Arg Missense DP Unidentified MPS three c.1175_1214del40 p.Leu392GlnfsX5 Frame-shift DM Certainly MPS 1 c.2077G>A p.Asp693Asn Missense DP No MPS 2 c.2082C>T
p.Ser694Ser Synonymous Whatever Consumers Said Around SB216763 Is actually Dead Wrong - Unidentified MPS nine c.2311T>C p.Leu771Leu Synonymous - Not known MPS nine c.2315T>C p.Val772Ala Missense DM Unfamiliar MPS 1 c.2612C>T p.Pro871Leu Missense DFP No MPS 8 c.2612delCinsTT p.Pro871LeufsX32 Frame-shift DM - MPS 1 c.3113A>G p.Glu1038Gly Missense DP No MPS nine c.3119G>A p.Ser1040Asn Missense DM? Mysterious MPS one c.3548A>G p.Lys1183Arg Missense DP No MPS 9 c.3706_3707delAA p.Asn1236TyrfsX7 Frame-shift DM Yes MPS 1 c.3756_3759delGTCT p.Ser1253ArgfsX10 Frame-shift DM Yes MPS 1 c.4065_4068delTCAA p.Asn1355LysfsX10 Frame-shift DM Certainly MPS one c.4308T>C p.Ser1436Ser Synonymous - Unknown MPS 9 c.4837A>G p.Ser1613Gly Things They Stated About CRM1 Is actually Dead Wrong Missense DM? No MPS nine BRCA2 c.68-7T>A Intronic IVS DM Not known MPS 1 c.865A>C p.Asn289His Missense DP No MPS 1 c.1114A>C p.Asn372His Missense DFP C>A MPS 11 c.1365A>G p.Ser455Ser Synonymous - No MPS one c.1395A>C p.Val465Val Synonymous
- Unfamiliar MPS one c.1813dupA p.Ile605AsnfsX11 Frame-shift DM Indeed HP package 1 c.1938C>T p.Ser646Ser Synonymous - No
MPS one c.2229T>C p.His743His Synonymous - No MPS 1 c.2957dupA p.Asn986LysfsX2 Frame-shift DM Yes HP kit 1 c.2971A>G p.Asn991Asp Things They Informed You About CRM1 Is Dead Wrong Missense DM? No MPS 1 c.3396A>G p.Lys1132Lys Synonymous - No MPS 10 c.3807T>C p.Val1269Val Synonymous - No MPS 5 c.4478_4481delAAAG p.Glu1493ValfsX10 Frame-shift DM Certainly MPS one c.7242A>G p.Ser2414Ser Synonymous - No MPS 6 c.7655_7658delTTAA p.Ile2552ThrfsX95 Frame-shift DM Indeed MPS one c.7762_7764delATAinsTT p.Ile2588PhefsX60 Frame-shift DM - MPS 1 c.7806-14T>C Intronic IVS - Mysterious MPS 17 c.7977-1G>C Intronic IVS DM Certainly MPS 1 c.8149G>T p.Ala2717Ser Missense DM? No MPS 1 c.8297delC p.Thr2766AsnfsX11 Frame-shift DM Yes MPS 1 c.8575delC p.Gln2859LysfsX4 Frame-shift DM Certainly MPS 1 c.9257-16T>C Intronic IVS - Unidentified MPS one c.9976A>T p.Lys3326X Nonsense DP No MPS 1 Look at it in a very individual window DM = disease-causing mutation; - = not claimed; MPS = massively parallel sequencing; IVS = intervening sequence; DP = disease-associated polymorphism; DFP: disease-associated polymorphism with extra supporting functional proof; DM? = likely disease-causing mutation; C>A = claimed as base pair improve from cytosine to adenine; HP = homopolymer. *Variants are named in accordance to Human Genome Variation Modern society nomenclature, Edition two.0.
p.Ser694Ser Synonymous Whatever Consumers Said Around SB216763 Is actually Dead Wrong - Unidentified MPS nine c.2311T>C p.Leu771Leu Synonymous - Not known MPS nine c.2315T>C p.Val772Ala Missense DM Unfamiliar MPS 1 c.2612C>T p.Pro871Leu Missense DFP No MPS 8 c.2612delCinsTT p.Pro871LeufsX32 Frame-shift DM - MPS 1 c.3113A>G p.Glu1038Gly Missense DP No MPS nine c.3119G>A p.Ser1040Asn Missense DM? Mysterious MPS one c.3548A>G p.Lys1183Arg Missense DP No MPS 9 c.3706_3707delAA p.Asn1236TyrfsX7 Frame-shift DM Yes MPS 1 c.3756_3759delGTCT p.Ser1253ArgfsX10 Frame-shift DM Yes MPS 1 c.4065_4068delTCAA p.Asn1355LysfsX10 Frame-shift DM Certainly MPS one c.4308T>C p.Ser1436Ser Synonymous - Unknown MPS 9 c.4837A>G p.Ser1613Gly Things They Stated About CRM1 Is actually Dead Wrong Missense DM? No MPS nine BRCA2 c.68-7T>A Intronic IVS DM Not known MPS 1 c.865A>C p.Asn289His Missense DP No MPS 1 c.1114A>C p.Asn372His Missense DFP C>A MPS 11 c.1365A>G p.Ser455Ser Synonymous - No MPS one c.1395A>C p.Val465Val Synonymous
- Unfamiliar MPS one c.1813dupA p.Ile605AsnfsX11 Frame-shift DM Indeed HP package 1 c.1938C>T p.Ser646Ser Synonymous - No
MPS one c.2229T>C p.His743His Synonymous - No MPS 1 c.2957dupA p.Asn986LysfsX2 Frame-shift DM Yes HP kit 1 c.2971A>G p.Asn991Asp Things They Informed You About CRM1 Is Dead Wrong Missense DM? No MPS 1 c.3396A>G p.Lys1132Lys Synonymous - No MPS 10 c.3807T>C p.Val1269Val Synonymous - No MPS 5 c.4478_4481delAAAG p.Glu1493ValfsX10 Frame-shift DM Certainly MPS one c.7242A>G p.Ser2414Ser Synonymous - No MPS 6 c.7655_7658delTTAA p.Ile2552ThrfsX95 Frame-shift DM Indeed MPS one c.7762_7764delATAinsTT p.Ile2588PhefsX60 Frame-shift DM - MPS 1 c.7806-14T>C Intronic IVS - Mysterious MPS 17 c.7977-1G>C Intronic IVS DM Certainly MPS 1 c.8149G>T p.Ala2717Ser Missense DM? No MPS 1 c.8297delC p.Thr2766AsnfsX11 Frame-shift DM Yes MPS 1 c.8575delC p.Gln2859LysfsX4 Frame-shift DM Certainly MPS 1 c.9257-16T>C Intronic IVS - Unidentified MPS one c.9976A>T p.Lys3326X Nonsense DP No MPS 1 Look at it in a very individual window DM = disease-causing mutation; - = not claimed; MPS = massively parallel sequencing; IVS = intervening sequence; DP = disease-associated polymorphism; DFP: disease-associated polymorphism with extra supporting functional proof; DM? = likely disease-causing mutation; C>A = claimed as base pair improve from cytosine to adenine; HP = homopolymer. *Variants are named in accordance to Human Genome Variation Modern society nomenclature, Edition two.0.