All transcript variants in gene PYGM

Information The variants shown are described using the NM_001164716.1 transcript reference sequence.

218 entries on 3 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     
?/? c.-48C>T r.(=) p.(=) g.64527418G>A Copied from the Exome Variant Server PYGM_000217 1/12996 1/8594 0/4402
?/? c.-42C>G r.(=) p.(=) g.64527412G>C Copied from the Exome Variant Server PYGM_000216 1/12994 1/8594 0/4400
?/? c.7C>T r.(?) p.(Arg3Trp) g.64527364G>A Copied from the Exome Variant Server PYGM_000218 1/12996 1/8594 0/4402
?/? c.8G>A r.(?) p.(Arg3Gln) g.64527363C>T Copied from the Exome Variant Server PYGM_000213 1/12996 1/8594 0/4402
?/? c.30A>G r.(=) p.(=) g.64527341T>C Copied from the Exome Variant Server PYGM_000211 1/12996 0/8594 1/4402
?/? c.50G>A r.(?) p.(Arg17His) g.64527321C>T Copied from the Exome Variant Server PYGM_000215 2/12996 2/8594 0/4402
?/? c.61G>A r.(?) p.(Gly21Ser) g.64527310C>T Copied from the Exome Variant Server PYGM_000214 7/12996 7/8594 0/4402
?/? c.63C>T r.(=) p.(=) g.64527308G>A Copied from the Exome Variant Server PYGM_000212 1/12996 0/8594 1/4402
?/? c.64G>A r.(?) p.(Val22Met) g.64527307C>T Copied from the Exome Variant Server PYGM_000210 1/12996 1/8594 0/4402
?/? c.73G>A r.(?) p.(Val25Met) g.64527298C>T Copied from the Exome Variant Server PYGM_000209 1/12996 1/8594 0/4402
?/? c.120C>T r.(=) p.(=) g.64527251G>A Copied from the Exome Variant Server PYGM_000208 2/12996 1/8594 1/4402
?/? c.146C>A r.(?) p.(Pro49Gln) g.64527225G>T Copied from the Exome Variant Server PYGM_000207 1/12996 0/8594 1/4402
?/? c.148C>T r.(?) p.(Arg50*) g.64527223G>A Copied from the Exome Variant Server PYGM_000206 29/12996 27/8594 2/4402
?/? c.160T>G r.(?) p.(Phe54Val) g.64527211A>C Copied from the Exome Variant Server PYGM_000205 8/12996 8/8594 0/4402
?/? c.161T>A r.(?) p.(Phe54Tyr) g.64527210A>T Copied from the Exome Variant Server PYGM_000204 1/12996 1/8594 0/4402
?/? c.182G>A r.(?) p.(Arg61His) g.64527189C>T Copied from the Exome Variant Server PYGM_000203 12/12996 11/8594 1/4402
?/? c.193G>A r.(?) p.(Val65Met) g.64527178C>T Copied from the Exome Variant Server PYGM_000202 1/12996 1/8594 0/4402
?/? c.200G>A r.(?) p.(Arg67His) g.64527171C>T Copied from the Exome Variant Server PYGM_000201 1/12996 1/8594 0/4402
?/? c.212C>T r.(?) p.(Thr71Met) g.64527159G>A Copied from the Exome Variant Server PYGM_000200 1/12996 0/8594 1/4402
?/? c.243+48A>G r.(=) p.(=) g.64527080T>C Copied from the Exome Variant Server PYGM_000199 2474/12994 837/8592 1637/4402
?/? c.244-429T>C r.(=) p.(=) g.64526167A>G Copied from the Exome Variant Server PYGM_000198 1/12996 1/8594 0/4402
?/? c.244-402C>T r.(=) p.(=) g.64526140G>A Copied from the Exome Variant Server PYGM_000197 1/12996 1/8594 0/4402
?/? c.244-398C>T r.(=) p.(=) g.64526136G>A Copied from the Exome Variant Server PYGM_000196 2/12996 1/8594 1/4402
?/? c.244-352C>T r.(=) p.(=) g.64526090G>A Copied from the Exome Variant Server PYGM_000195 42/12996 38/8594 4/4402
?/? c.244-344C>T r.(=) p.(=) g.64526082G>A Copied from the Exome Variant Server PYGM_000194 1/12996 1/8594 0/4402
?/? c.244-311G>A r.(=) p.(=) g.64526049C>T Copied from the Exome Variant Server PYGM_000193 1/12996 1/8594 0/4402
?/? c.244-300G>T r.(=) p.(=) g.64526038C>A Copied from the Exome Variant Server PYGM_000192 58/12996 2/8594 56/4402
?/? c.244-276T>C r.(=) p.(=) g.64526014A>G Copied from the Exome Variant Server PYGM_000191 1/12996 0/8594 1/4402
?/? c.244-268G>A r.(=) p.(=) g.64526006C>T Copied from the Exome Variant Server PYGM_000190 1/12996 1/8594 0/4402
?/? c.244-258C>T r.(=) p.(=) g.64525996G>A Copied from the Exome Variant Server PYGM_000189 1/12996 0/8594 1/4402
?/? c.244-236T>C r.(=) p.(=) g.64525974A>G Copied from the Exome Variant Server PYGM_000188 2/12996 2/8594 0/4402
?/? c.244-193C>T r.(=) p.(=) g.64525931G>A Copied from the Exome Variant Server PYGM_000187 1/12996 0/8594 1/4402
?/? c.244-180C>G r.(=) p.(=) g.64525918G>C Copied from the Exome Variant Server PYGM_000186 1/12996 0/8594 1/4402
?/? c.244-154G>A r.(=) p.(=) g.64525892C>T Copied from the Exome Variant Server PYGM_000185 11/12996 0/8594 11/4402
?/? c.244-136G>A r.(=) p.(=) g.64525874C>T Copied from the Exome Variant Server PYGM_000184 1/12996 0/8594 1/4402
?/? c.244-113C>G r.(=) p.(=) g.64525851G>C Copied from the Exome Variant Server PYGM_000183 1/12996 1/8594 0/4402
?/? c.244-105C>T r.(=) p.(=) g.64525843G>A Copied from the Exome Variant Server PYGM_000182 291/12996 248/8594 43/4402
?/? c.244-40T>C r.(=) p.(=) g.64525778A>G Copied from the Exome Variant Server PYGM_000181 1/12996 0/8594 1/4402
?/? c.245_247del r.(?) p.(Lys82del) g.64525735_64525737del Copied from the Exome Variant Server PYGM_000180 1/12518 0/8254 1/4264
?/? c.252C>T r.(=) p.(=) g.64525730G>A Copied from the Exome Variant Server PYGM_000179 8/12996 0/8594 8/4402
?/? c.253G>A r.(?) p.(Gly85Arg) g.64525729C>T Copied from the Exome Variant Server PYGM_000178 7/12996 0/8594 7/4402
?/? c.264+9C>T r.(=) p.(=) g.64525709G>A Copied from the Exome Variant Server PYGM_000177 3/12996 0/8594 3/4402
?/? c.264+12T>C r.(=) p.(=) g.64525706A>G Copied from the Exome Variant Server PYGM_000176 1/12996 1/8594 0/4402
?/? c.264+24G>C r.(=) p.(=) g.64525694C>G Copied from the Exome Variant Server PYGM_000175 1/12996 1/8594 0/4402
?/? c.264+25T>G r.(=) p.(=) g.64525693A>C Copied from the Exome Variant Server PYGM_000174 2/12996 1/8594 1/4402
?/? c.264+51C>T r.(=) p.(=) g.64525667G>A Copied from the Exome Variant Server PYGM_000173 71/12996 1/8594 70/4402
?/? c.265-51G>A r.(=) p.(=) g.64525433C>T Copied from the Exome Variant Server PYGM_000172 9/12992 0/8590 9/4402
?/? c.265-28C>T r.(=) p.(=) g.64525410G>A Copied from the Exome Variant Server PYGM_000171 1/12996 1/8594 0/4402
?/? c.265-6G>A r.(=) p.(=) g.64525388C>T Copied from the Exome Variant Server PYGM_000170 1/12996 1/8594 0/4402
?/? c.276C>T r.(=) p.(=) g.64525371G>A Copied from the Exome Variant Server PYGM_000169 2/12996 1/8594 1/4402
?/? c.294C>T r.(=) p.(=) g.64525353G>A Copied from the Exome Variant Server PYGM_000168 3/12996 3/8594 0/4402
?/? c.312G>T r.(?) p.(Lys104Asn) g.64525335C>A Copied from the Exome Variant Server PYGM_000167 1/12996 1/8594 0/4402
?/? c.313G>T r.(?) p.(Ala105Ser) g.64525334C>A Copied from the Exome Variant Server PYGM_000165 38/12996 33/8594 5/4402
?/? c.316C>T r.(?) p.(Arg106Trp) g.64525331G>A Copied from the Exome Variant Server PYGM_000163 1/12996 1/8594 0/4402
?/? c.348C>T r.(=) p.(=) g.64525299G>A Copied from the Exome Variant Server PYGM_000161 7/12996 5/8594 2/4402
?/? c.349G>A r.(?) p.(Gly117Ser) g.64525298C>T Copied from the Exome Variant Server PYGM_000166 3/12996 3/8594 0/4402
?/? c.350G>A r.(?) p.(Gly117Asp) g.64525297C>T Copied from the Exome Variant Server PYGM_000164 1/12996 1/8594 0/4402
?/? c.354T>A r.(?) p.(His118Gln) g.64525293A>T Copied from the Exome Variant Server PYGM_000162 1/12996 1/8594 0/4402
?/? c.366C>T r.(=) p.(=) g.64525281G>A Copied from the Exome Variant Server PYGM_000160 1/12996 1/8594 0/4402
?/? c.381G>A r.(=) p.(=) g.64525266C>T Copied from the Exome Variant Server PYGM_000159 82/12996 69/8594 13/4402
?/? c.396G>A r.(=) p.(=) g.64525251C>T Copied from the Exome Variant Server PYGM_000158 31/12996 29/8594 2/4402
?/? c.396+35G>A r.(=) p.(=) g.64525216C>T Copied from the Exome Variant Server PYGM_000157 9123/12996 7723/8594 1400/4402
?/? c.397-5C>G r.spl? p.? g.64523035G>C Copied from the Exome Variant Server PYGM_000156 273/12996 0/8594 273/4402
?/? c.397-4G>A r.spl? p.? g.64523034C>T Copied from the Exome Variant Server PYGM_000155 1/12996 0/8594 1/4402
?/? c.397G>C r.(?) p.(Val133Leu) g.64523030C>G Copied from the Exome Variant Server PYGM_000154 1/12996 0/8594 1/4402
?/? c.410T>C r.(?) p.(Met137Thr) g.64523017A>G Copied from the Exome Variant Server PYGM_000153 1/12996 1/8594 0/4402
?/? c.417C>T r.(=) p.(=) g.64523010G>A Copied from the Exome Variant Server PYGM_000152 1/12996 1/8594 0/4402
?/? c.418G>A r.(?) p.(Asp140Asn) g.64523009C>T Copied from the Exome Variant Server PYGM_000151 1/12996 1/8594 0/4402
?/? c.439C>G r.(?) p.(Arg147Gly) g.64522988G>C Copied from the Exome Variant Server PYGM_000150 1/12996 1/8594 0/4402
?/? c.440G>A r.(?) p.(Arg147His) g.64522987C>T Copied from the Exome Variant Server PYGM_000149 1/12996 0/8594 1/4402
?/? c.463C>T r.(?) p.(Arg155Cys) g.64522964G>A Copied from the Exome Variant Server PYGM_000148 2/12996 2/8594 0/4402
?/? c.465C>T r.(=) p.(=) g.64522962G>A Copied from the Exome Variant Server PYGM_000147 2/12996 2/8594 0/4402
?/? c.474T>C r.(=) p.(=) g.64522953A>G Copied from the Exome Variant Server PYGM_000146 1/12996 0/8594 1/4402
?/? c.488A>G r.(?) p.(Asn163Ser) g.64522939T>C Copied from the Exome Variant Server PYGM_000145 1/12996 0/8594 1/4402
?/? c.497A>T r.(?) p.(Asn166Ile) g.64522930T>A Copied from the Exome Variant Server PYGM_000144 5/12996 0/8594 5/4402
?/? c.508+39C>T r.(=) p.(=) g.64522880G>A Copied from the Exome Variant Server PYGM_000143 1/12996 1/8594 0/4402
?/? c.508+40C>T r.(=) p.(=) g.64522879G>A Copied from the Exome Variant Server PYGM_000142 2/12996 0/8594 2/4402
?/? c.508+43C>T r.(=) p.(=) g.64522876G>A Copied from the Exome Variant Server PYGM_000141 1/12996 1/8594 0/4402
?/? c.509-43C>T r.(=) p.(=) g.64522870G>A Copied from the Exome Variant Server PYGM_000140 1/12996 1/8594 0/4402
?/? c.512A>G r.(?) p.(Asn171Ser) g.64522824T>C Copied from the Exome Variant Server PYGM_000139 1/12996 0/8594 1/4402
?/? c.584A>G r.(?) p.(Asn195Ser) g.64522752T>C Copied from the Exome Variant Server PYGM_000138 14/12994 12/8592 2/4402
?/? c.591+4C>T r.spl? p.? g.64522741G>A Copied from the Exome Variant Server PYGM_000137 1/12994 0/8592 1/4402
?/? c.591+15G>A r.(=) p.(=) g.64522730C>T Copied from the Exome Variant Server PYGM_000136 2/12996 0/8594 2/4402
?/? c.591+21G>A r.(=) p.(=) g.64522724C>T Copied from the Exome Variant Server PYGM_000135 1/12996 0/8594 1/4402
?/? c.598G>A r.(?) p.(Glu200Lys) g.64522302C>T Copied from the Exome Variant Server PYGM_000134 1/12996 0/8594 1/4402
?/? c.660C>T r.(=) p.(=) g.64522240G>A Copied from the Exome Variant Server PYGM_000133 28/12996 25/8594 3/4402
?/? c.668G>A r.(?) p.(Arg223His) g.64522232C>T Copied from the Exome Variant Server PYGM_000132 1/12996 1/8594 0/4402
?/? c.687C>T r.(=) p.(=) g.64522213G>A Copied from the Exome Variant Server PYGM_000131 3/12996 0/8594 3/4402
?/? c.688G>A r.(?) p.(Gly230Ser) g.64522212C>T Copied from the Exome Variant Server PYGM_000130 1/12996 1/8594 0/4402
?/? c.695G>A r.(?) p.(Arg232His) g.64522205C>T Copied from the Exome Variant Server PYGM_000129 1/12996 1/8594 0/4402
?/? c.700C>G r.(?) p.(Pro234Ala) g.64522200G>C Copied from the Exome Variant Server PYGM_000128 1/12996 0/8594 1/4402
?/? c.702C>G r.(=) p.(=) g.64522198G>C Copied from the Exome Variant Server PYGM_000127 1/12996 1/8594 0/4402
?/? c.706C>A r.(?) p.(Arg236Ser) g.64522194G>T Copied from the Exome Variant Server PYGM_000126 1/12996 1/8594 0/4402
?/? c.707G>A r.(?) p.(Arg236His) g.64522193C>T Copied from the Exome Variant Server PYGM_000125 1/12996 0/8594 1/4402
?/? c.717C>T r.(=) p.(=) g.64522183G>A Copied from the Exome Variant Server PYGM_000124 4/12996 0/8594 4/4402
?/? c.735+10G>A r.(=) p.(=) g.64522155C>T Copied from the Exome Variant Server PYGM_000123 1/12996 1/8594 0/4402
?/? c.735+20C>T r.(=) p.(=) g.64522145G>A Copied from the Exome Variant Server PYGM_000122 19/12996 19/8594 0/4402
?/? c.736-24G>C r.(=) p.(=) g.64521841C>G Copied from the Exome Variant Server PYGM_000121 14/12996 0/8594 14/4402
?/? c.819C>T r.(=) p.(=) g.64521734G>A Copied from the Exome Variant Server PYGM_000120 8/12996 0/8594 8/4402
?/? c.828+6_828+7insC r.(=) p.(=) g.64521718_64521719insG Copied from the Exome Variant Server PYGM_000119 94/12518 0/8254 94/4264
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