Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136673760_136673825del | CA5342801 | AGPAT2 | c.766_831del (p.Phe256_Ala277del) c.670_735del (p.Phe224_Ala245del) n.694_759del | ExAC gnomAD v2 gnomAD v4 |
9 | g.136673771_136673804del | CA2692653747 | AGPAT2 | c.786_819del (p.Pro263CysfsTer13) c.690_723del (p.Pro231CysfsTer13) n.714_747del | gnomAD v4 |
9 | g.136673787_136673800del | CA2692653749 | AGPAT2 | c.792_805del (p.Gln264HisfsTer?) c.696_709del (p.Gln232HisfsTer?) n.720_733del | gnomAD v4 |
9 | g.136673793T>A | CA375577118 | AGPAT2 | c.796A>T (p.Asn266Tyr) c.700A>T (p.Asn234Tyr) n.724A>T | |
9 | g.136673793T>C | CA375577119 | AGPAT2 | c.796A>G (p.Asn266Asp) c.700A>G (p.Asn234Asp) n.724A>G | |
9 | g.136673793T>G | CA375577121 | AGPAT2 | c.796A>C (p.Asn266His) c.700A>C (p.Asn234His) n.724A>C | |
9 | g.136673794C>A | CA375577125 | AGPAT2 | c.795G>T (p.Glu265Asp) c.699G>T (p.Glu233Asp) n.723G>T | gnomAD v4 |
9 | g.136673794C>G | CA375577122 | AGPAT2 | c.795G>C (p.Glu265Asp) c.699G>C (p.Glu233Asp) n.723G>C | |
9 | g.136673794C>T | CA5342813 | AGPAT2 | c.795G>A (p.Glu265=) c.699G>A (p.Glu233=) n.723G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673795T>A | CA375577127 | AGPAT2 | c.794A>T (p.Glu265Val) c.698A>T (p.Glu233Val) n.722A>T | |
9 | g.136673795T>C | CA375577128 | AGPAT2 | c.794A>G (p.Glu265Gly) c.698A>G (p.Glu233Gly) n.722A>G | |
9 | g.136673795T>G | CA375577130 | AGPAT2 | c.794A>C (p.Glu265Ala) c.698A>C (p.Glu233Ala) n.722A>C | |
9 | g.136673795_136673855del | CA2692653751 | AGPAT2 | c.734_794del (p.Val245GlyfsTer22) c.638_698del (p.Val213GlyfsTer22) n.662_722del | gnomAD v4 |
9 | g.136673796C>A | CA375577133 | AGPAT2 | c.793G>T (p.Glu265Ter) c.697G>T (p.Glu233Ter) n.721G>T | |
9 | g.136673796C>G | CA375577134 | AGPAT2 | c.793G>C (p.Glu265Gln) c.697G>C (p.Glu233Gln) n.721G>C | |
9 | g.136673796C>T | CA375577135 | AGPAT2 | c.793G>A (p.Glu265Lys) c.697G>A (p.Glu233Lys) n.721G>A | |
9 | g.136673797C>A | CA375577138 | AGPAT2 | c.792G>T (p.Gln264His) c.696G>T (p.Gln232His) n.720G>T | gnomAD v4 |
9 | g.136673797C>G | CA375577140 | AGPAT2 | c.792G>C (p.Gln264His) c.696G>C (p.Gln232His) n.720G>C | |
9 | g.136673797C>T | CA467736971 | AGPAT2 | c.792G>A (p.Gln264=) c.696G>A (p.Gln232=) n.720G>A | gnomAD v4 |
9 | g.136673798T>A | CA375577142 | AGPAT2 | c.791A>T (p.Gln264Leu) c.695A>T (p.Gln232Leu) n.719A>T | |
9 | g.136673798T>C | CA375577144 | AGPAT2 | c.791A>G (p.Gln264Arg) c.695A>G (p.Gln232Arg) n.719A>G | |
9 | g.136673798T>G | CA375577146 | AGPAT2 | c.791A>C (p.Gln264Pro) c.695A>C (p.Gln232Pro) n.719A>C | |
9 | g.136673799G>A | CA5342814 | AGPAT2 | c.790C>T (p.Gln264Ter) c.694C>T (p.Gln232Ter) n.718C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673799G>C | CA375577148 | AGPAT2 | c.790C>G (p.Gln264Glu) c.694C>G (p.Gln232Glu) n.718C>G | |
9 | g.136673799G>T | CA375577147 | AGPAT2 | c.790C>A (p.Gln264Lys) c.694C>A (p.Gln232Lys) n.718C>A | |
9 | g.136673804dup | CA2692653752 | AGPAT2 | c.790dup (p.Gln264ProfsTer?) c.694dup (p.Gln232ProfsTer?) n.718dup | gnomAD v4 |
9 | g.136673804del | CA2692653753 | AGPAT2 | c.790del (p.Gln264ArgfsTer23) c.694del (p.Gln232ArgfsTer23) n.718del | gnomAD v4 |
9 | g.136673800G>A | CA201626782 | AGPAT2 | c.789C>T (p.Pro263=) c.693C>T (p.Pro231=) n.717C>T | dbSNP |
9 | g.136673800G>C | CA467736976 | AGPAT2 | c.789C>G (p.Pro263=) c.693C>G (p.Pro231=) n.717C>G | |
9 | g.136673800G>T | CA5342815 | AGPAT2 | c.789C>A (p.Pro263=) c.693C>A (p.Pro231=) n.717C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673801G>A | CA5342816 | AGPAT2 | c.788C>T (p.Pro263Leu) c.692C>T (p.Pro231Leu) n.716C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673801G>C | CA375577152 | AGPAT2 | c.788C>G (p.Pro263Arg) c.692C>G (p.Pro231Arg) n.716C>G | ClinVar |
9 | g.136673801G= | CA2580903229 | AGPAT2 | c.788C= (p.Pro263=) c.692C= (p.Pro231=) n.716C= | |
9 | g.136673801G>T | CA375577153 | AGPAT2 | c.788C>A (p.Pro263His) c.692C>A (p.Pro231His) n.716C>A | |
9 | g.136673802G>A | CA375577155 | AGPAT2 | c.787C>T (p.Pro263Ser) c.691C>T (p.Pro231Ser) n.715C>T | |
9 | g.136673802G>C | CA375577157 | AGPAT2 | c.787C>G (p.Pro263Ala) c.691C>G (p.Pro231Ala) n.715C>G | gnomAD v4 |
9 | g.136673802G>T | CA375577159 | AGPAT2 | c.787C>A (p.Pro263Thr) c.691C>A (p.Pro231Thr) n.715C>A | |
9 | g.136673803G>A | CA5342817 | AGPAT2 | c.786C>T (p.Thr262=) c.690C>T (p.Thr230=) n.714C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673803G>C | CA467736979 | AGPAT2 | c.786C>G (p.Thr262=) c.690C>G (p.Thr230=) n.714C>G | |
9 | g.136673803G>T | CA5342818 | AGPAT2 | c.786C>A (p.Thr262=) c.690C>A (p.Thr230=) n.714C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673804G>A | CA5342819 | AGPAT2 | c.785C>T (p.Thr262Ile) c.689C>T (p.Thr230Ile) n.713C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673804G>C | CA375577164 | AGPAT2 | c.785C>G (p.Thr262Ser) c.689C>G (p.Thr230Ser) n.713C>G | |
9 | g.136673804G>T | CA375577166 | AGPAT2 | c.785C>A (p.Thr262Asn) c.689C>A (p.Thr230Asn) n.713C>A | gnomAD v4 |
9 | g.136673805T>A | CA375577170 | AGPAT2 | c.784A>T (p.Thr262Ser) c.688A>T (p.Thr230Ser) n.712A>T | |
9 | g.136673805T>C | CA375577172 | AGPAT2 | c.784A>G (p.Thr262Ala) c.688A>G (p.Thr230Ala) n.712A>G | |
9 | g.136673805T>G | CA375577168 | AGPAT2 | c.784A>C (p.Thr262Pro) c.688A>C (p.Thr230Pro) n.712A>C | |
9 | g.136673806C>A | CA375577174 | AGPAT2 | c.783G>T (p.Lys261Asn) c.687G>T (p.Lys229Asn) n.711G>T | gnomAD v4 |
9 | g.136673806C>G | CA375577176 | AGPAT2 | c.783G>C (p.Lys261Asn) c.687G>C (p.Lys229Asn) n.711G>C | |
9 | g.136673806C>T | CA5342820 | AGPAT2 | c.783G>A (p.Lys261=) c.687G>A (p.Lys229=) n.711G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673807T>A | CA375577179 | AGPAT2 | c.782A>T (p.Lys261Met) c.686A>T (p.Lys229Met) n.710A>T | |
9 | g.136673807T>C | CA5342821 | AGPAT2 | c.782A>G (p.Lys261Arg) c.686A>G (p.Lys229Arg) n.710A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673807T>G | CA375577182 | AGPAT2 | c.782A>C (p.Lys261Thr) c.686A>C (p.Lys229Thr) n.710A>C | |
9 | g.136673808T>A | CA375577187 | AGPAT2 | c.781A>T (p.Lys261Ter) c.685A>T (p.Lys229Ter) n.709A>T | |
9 | g.136673808T>C | CA5342822 | AGPAT2 | c.781A>G (p.Lys261Glu) c.685A>G (p.Lys229Glu) n.709A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673808T>G | CA375577185 | AGPAT2 | c.781A>C (p.Lys261Gln) c.685A>C (p.Lys229Gln) n.709A>C | |
9 | g.136673809G>A | CA201626808 | AGPAT2 | c.780C>T (p.Ser260=) c.684C>T (p.Ser228=) n.708C>T | dbSNP gnomAD v4 |
9 | g.136673809G>C | CA467736986 | AGPAT2 | c.780C>G (p.Ser260=) c.684C>G (p.Ser228=) n.708C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673809G>T | CA467736985 | AGPAT2 | c.780C>A (p.Ser260=) c.684C>A (p.Ser228=) n.708C>A | |
9 | g.136673810G>A | CA375577190 | AGPAT2 | c.779C>T (p.Ser260Phe) c.683C>T (p.Ser228Phe) n.707C>T | gnomAD v4 |
9 | g.136673810G>C | CA5342823 | AGPAT2 | c.779C>G (p.Ser260Cys) c.683C>G (p.Ser228Cys) n.707C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673810G>T | CA375577192 | AGPAT2 | c.779C>A (p.Ser260Tyr) c.683C>A (p.Ser228Tyr) n.707C>A | |
9 | g.136673811A>C | CA375577194 | AGPAT2 | c.778T>G (p.Ser260Ala) c.682T>G (p.Ser228Ala) n.706T>G | |
9 | g.136673811A>G | CA375577195 | AGPAT2 | c.778T>C (p.Ser260Pro) c.682T>C (p.Ser228Pro) n.706T>C | |
9 | g.136673811A>T | CA375577196 | AGPAT2 | c.778T>A (p.Ser260Thr) c.682T>A (p.Ser228Thr) n.706T>A | |
9 | g.136673812G>A | CA467736990 | AGPAT2 | c.777C>T (p.Ile259=) c.681C>T (p.Ile227=) n.705C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673812G>C | CA375577198 | AGPAT2 | c.777C>G (p.Ile259Met) c.681C>G (p.Ile227Met) n.705C>G | |
9 | g.136673812G>T | CA467736991 | AGPAT2 | c.777C>A (p.Ile259=) c.681C>A (p.Ile227=) n.705C>A | gnomAD v4 |
9 | g.136673813A>C | CA375577203 | AGPAT2 | c.776T>G (p.Ile259Ser) c.680T>G (p.Ile227Ser) n.704T>G | |
9 | g.136673813A>G | CA201626809 | AGPAT2 | c.776T>C (p.Ile259Thr) c.680T>C (p.Ile227Thr) n.704T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673813A>T | CA375577201 | AGPAT2 | c.776T>A (p.Ile259Asn) c.680T>A (p.Ile227Asn) n.704T>A | |
9 | g.136673814T>A | CA375577205 | AGPAT2 | c.775A>T (p.Ile259Phe) c.679A>T (p.Ile227Phe) n.703A>T | gnomAD v4 |
9 | g.136673814T>C | CA375577207 | AGPAT2 | c.775A>G (p.Ile259Val) c.679A>G (p.Ile227Val) n.703A>G | |
9 | g.136673814T>G | CA375577209 | AGPAT2 | c.775A>C (p.Ile259Leu) c.679A>C (p.Ile227Leu) n.703A>C | |
9 | g.136673815G>A | CA467736993 | AGPAT2 | c.774C>T (p.His258=) c.678C>T (p.His226=) n.702C>T | gnomAD v4 |
9 | g.136673815G>C | CA375577211 | AGPAT2 | c.774C>G (p.His258Gln) c.678C>G (p.His226Gln) n.702C>G | |
9 | g.136673815G>T | CA375577213 | AGPAT2 | c.774C>A (p.His258Gln) c.678C>A (p.His226Gln) n.702C>A | |
9 | g.136673816_136673818del | CA2579519877 | AGPAT2 | c.772_774del (p.His258del) c.676_678del (p.His226del) n.700_702del | |
9 | g.136673816T>A | CA375577216 | AGPAT2 | c.773A>T (p.His258Leu) c.677A>T (p.His226Leu) n.701A>T | |
9 | g.136673816T>C | CA375577217 | AGPAT2 | c.773A>G (p.His258Arg) c.677A>G (p.His226Arg) n.701A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673816T>G | CA375577219 | AGPAT2 | c.773A>C (p.His258Pro) c.677A>C (p.His226Pro) n.701A>C | |
9 | g.136673817G>A | CA375577220 | AGPAT2 | c.772C>T (p.His258Tyr) c.676C>T (p.His226Tyr) n.700C>T | |
9 | g.136673817G>C | CA375577222 | AGPAT2 | c.772C>G (p.His258Asp) c.676C>G (p.His226Asp) n.700C>G | |
9 | g.136673817G>T | CA375577223 | AGPAT2 | c.772C>A (p.His258Asn) c.676C>A (p.His226Asn) n.700C>A | |
9 | g.136673818G>A | CA467736999 | AGPAT2 | c.771C>T (p.Leu257=) c.675C>T (p.Leu225=) n.699C>T | gnomAD v4 |
9 | g.136673818G>C | CA467736998 | AGPAT2 | c.771C>G (p.Leu257=) c.675C>G (p.Leu225=) n.699C>G | |
9 | g.136673818G>T | CA467736996 | AGPAT2 | c.771C>A (p.Leu257=) c.675C>A (p.Leu225=) n.699C>A | |
9 | g.136673819A>C | CA375577229 | AGPAT2 | c.770T>G (p.Leu257Arg) c.674T>G (p.Leu225Arg) n.698T>G | |
9 | g.136673819A>G | CA375577228 | AGPAT2 | c.770T>C (p.Leu257Pro) c.674T>C (p.Leu225Pro) n.698T>C | |
9 | g.136673819A>T | CA375577226 | AGPAT2 | c.770T>A (p.Leu257His) c.674T>A (p.Leu225His) n.698T>A | |
9 | g.136673820G>A | CA375577230 | AGPAT2 | c.769C>T (p.Leu257Phe) c.673C>T (p.Leu225Phe) n.697C>T | |
9 | g.136673820G>C | CA375577231 | AGPAT2 | c.769C>G (p.Leu257Val) c.673C>G (p.Leu225Val) n.697C>G | |
9 | g.136673820G>T | CA375577233 | AGPAT2 | c.769C>A (p.Leu257Ile) c.673C>A (p.Leu225Ile) n.697C>A | gnomAD v4 |
9 | g.136673821del | CA591367747 | AGPAT2 | c.769del (p.Leu257SerfsTer30) c.673del (p.Leu225SerfsTer30) n.697del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673821G>A | CA467737001 | AGPAT2 | c.768C>T (p.Phe256=) c.672C>T (p.Phe224=) n.696C>T | |
9 | g.136673821G>C | CA375577235 | AGPAT2 | c.768C>G (p.Phe256Leu) c.672C>G (p.Phe224Leu) n.696C>G | |
9 | g.136673821G>T | CA5342824 | AGPAT2 | c.768C>A (p.Phe256Leu) c.672C>A (p.Phe224Leu) n.696C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673822A>C | CA375577238 | AGPAT2 | c.767T>G (p.Phe256Cys) c.671T>G (p.Phe224Cys) n.695T>G | |
9 | g.136673822A>G | CA375577239 | AGPAT2 | c.767T>C (p.Phe256Ser) c.671T>C (p.Phe224Ser) n.695T>C | |
9 | g.136673822A>T | CA375577240 | AGPAT2 | c.767T>A (p.Phe256Tyr) c.671T>A (p.Phe224Tyr) n.695T>A | |
9 | g.136673823A>C | CA375577242 | AGPAT2 | c.766T>G (p.Phe256Val) c.670T>G (p.Phe224Val) n.694T>G | |
9 | g.136673823A>G | CA375577243 | AGPAT2 | c.766T>C (p.Phe256Leu) c.670T>C (p.Phe224Leu) n.694T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673823A>T | CA375577244 | AGPAT2 | c.766T>A (p.Phe256Ile) c.670T>A (p.Phe224Ile) n.694T>A | |
9 | g.136673824G>A | CA467737002 | AGPAT2 | c.765C>T (p.Thr255=) c.669C>T (p.Thr223=) n.693C>T | dbSNP gnomAD v4 |
9 | g.136673824G>C | CA467737003 | AGPAT2 | c.765C>G (p.Thr255=) c.669C>G (p.Thr223=) n.693C>G | |
9 | g.136673824G>T | CA467737004 | AGPAT2 | c.765C>A (p.Thr255=) c.669C>A (p.Thr223=) n.693C>A | |
9 | g.136673825G>A | CA201626811 | AGPAT2 | c.764C>T (p.Thr255Ile) c.668C>T (p.Thr223Ile) n.692C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673825G>C | CA375577247 | AGPAT2 | c.764C>G (p.Thr255Ser) c.668C>G (p.Thr223Ser) n.692C>G | |
9 | g.136673825G>T | CA375577249 | AGPAT2 | c.764C>A (p.Thr255Asn) c.668C>A (p.Thr223Asn) n.692C>A | |
9 | g.136673826T>A | CA375577252 | AGPAT2 | c.763A>T (p.Thr255Ser) c.667A>T (p.Thr223Ser) n.691A>T | |
9 | g.136673826T>C | CA375577254 | AGPAT2 | c.763A>G (p.Thr255Ala) c.667A>G (p.Thr223Ala) n.691A>G | |
9 | g.136673826T>G | CA375577256 | AGPAT2 | c.763A>C (p.Thr255Pro) c.667A>C (p.Thr223Pro) n.691A>C | |
9 | g.136673829_136673837del | CA16042192 | AGPAT2 | c.755_763del (p.Met252_Thr254del) c.659_667del (p.Met220_Thr222del) n.683_691del | ClinVar dbSNP gnomAD v4 |
9 | g.136673827G>A | CA5342825 | AGPAT2 | c.762C>T (p.Thr254=) c.666C>T (p.Thr222=) n.690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673827G>C | CA467737005 | AGPAT2 | c.762C>G (p.Thr254=) c.666C>G (p.Thr222=) n.690C>G | |
9 | g.136673827G>T | CA467737006 | AGPAT2 | c.762C>A (p.Thr254=) c.666C>A (p.Thr222=) n.690C>A | gnomAD v4 |
9 | g.136673828G>A | CA5342826 | AGPAT2 | c.761C>T (p.Thr254Ile) c.665C>T (p.Thr222Ile) n.689C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673828G>C | CA375577260 | AGPAT2 | c.761C>G (p.Thr254Ser) c.665C>G (p.Thr222Ser) n.689C>G | dbSNP |
9 | g.136673828G>T | CA201626821 | AGPAT2 | c.761C>A (p.Thr254Asn) c.665C>A (p.Thr222Asn) n.689C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673829T>A | CA375577263 | AGPAT2 | c.760A>T (p.Thr254Ser) c.664A>T (p.Thr222Ser) n.688A>T | |
9 | g.136673829T>C | CA375577264 | AGPAT2 | c.760A>G (p.Thr254Ala) c.664A>G (p.Thr222Ala) n.688A>G | |
9 | g.136673829T>G | CA375577265 | AGPAT2 | c.760A>C (p.Thr254Pro) c.664A>C (p.Thr222Pro) n.688A>C | |
9 | g.136673830C>A | CA375577267 | AGPAT2 | c.759G>T (p.Arg253Ser) c.663G>T (p.Arg221Ser) n.687G>T | gnomAD v4 |
9 | g.136673830C>G | CA375577269 | AGPAT2 | c.759G>C (p.Arg253Ser) c.663G>C (p.Arg221Ser) n.687G>C | |
9 | g.136673830C>T | CA467737008 | AGPAT2 | c.759G>A (p.Arg253=) c.663G>A (p.Arg221=) n.687G>A | dbSNP |
9 | g.136673831C>A | CA375577271 | AGPAT2 | c.758G>T (p.Arg253Met) c.662G>T (p.Arg221Met) n.686G>T | COSMIC |
9 | g.136673831C>G | CA375577272 | AGPAT2 | c.758G>C (p.Arg253Thr) c.662G>C (p.Arg221Thr) n.686G>C | |
9 | g.136673831C>T | CA5342827 | AGPAT2 | c.758G>A (p.Arg253Lys) c.662G>A (p.Arg221Lys) n.686G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673832T>A | CA375577274 | AGPAT2 | c.757A>T (p.Arg253Trp) c.661A>T (p.Arg221Trp) n.685A>T | |
9 | g.136673832T>C | CA375577273 | AGPAT2 | c.757A>G (p.Arg253Gly) c.661A>G (p.Arg221Gly) n.685A>G | gnomAD v4 |
9 | g.136673832T>G | CA467737009 | AGPAT2 | c.757A>C (p.Arg253=) c.661A>C (p.Arg221=) n.685A>C | |
9 | g.136673833C>A | CA375577276 | AGPAT2 | c.756G>T (p.Met252Ile) c.660G>T (p.Met220Ile) n.684G>T | |
9 | g.136673833C>G | CA375577278 | AGPAT2 | c.756G>C (p.Met252Ile) c.660G>C (p.Met220Ile) n.684G>C | |
9 | g.136673833C>T | CA375577279 | AGPAT2 | c.756G>A (p.Met252Ile) c.660G>A (p.Met220Ile) n.684G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673834_136673840dup | CA2692653754 | AGPAT2 | c.750_756dup (p.Arg253GlyfsTer?) c.654_660dup (p.Arg221GlyfsTer?) n.678_684dup | gnomAD v4 |
9 | g.136673834A>C | CA375577281 | AGPAT2 | c.755T>G (p.Met252Arg) c.659T>G (p.Met220Arg) n.683T>G | |
9 | g.136673834A>G | CA375577283 | AGPAT2 | c.755T>C (p.Met252Thr) c.659T>C (p.Met220Thr) n.683T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673834A>T | CA375577284 | AGPAT2 | c.755T>A (p.Met252Lys) c.659T>A (p.Met220Lys) n.683T>A | |
9 | g.136673835T>A | CA375577285 | AGPAT2 | c.754A>T (p.Met252Leu) c.658A>T (p.Met220Leu) n.682A>T | |
9 | g.136673835T>C | CA5342828 | AGPAT2 | c.754A>G (p.Met252Val) c.658A>G (p.Met220Val) n.682A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673835T>G | CA375577288 | AGPAT2 | c.754A>C (p.Met252Leu) c.658A>C (p.Met220Leu) n.682A>C | |
9 | g.136673836G>A | CA467737010 | AGPAT2 | c.753C>T (p.Ala251=) c.657C>T (p.Ala219=) n.681C>T | gnomAD v4 |
9 | g.136673836G>C | CA467737011 | AGPAT2 | c.753C>G (p.Ala251=) c.657C>G (p.Ala219=) n.681C>G | |
9 | g.136673836G>T | CA467737012 | AGPAT2 | c.753C>A (p.Ala251=) c.657C>A (p.Ala219=) n.681C>A | |
9 | g.136673837G>A | CA375577290 | AGPAT2 | c.752C>T (p.Ala251Val) c.656C>T (p.Ala219Val) n.680C>T | gnomAD v4 |
9 | g.136673837G>C | CA375577291 | AGPAT2 | c.752C>G (p.Ala251Gly) c.656C>G (p.Ala219Gly) n.680C>G | |
9 | g.136673837G>T | CA375577292 | AGPAT2 | c.752C>A (p.Ala251Asp) c.656C>A (p.Ala219Asp) n.680C>A | |
9 | g.136673838C>A | CA375577293 | AGPAT2 | c.751G>T (p.Ala251Ser) c.655G>T (p.Ala219Ser) n.679G>T | |
9 | g.136673838C>G | CA375577296 | AGPAT2 | c.751G>C (p.Ala251Pro) c.655G>C (p.Ala219Pro) n.679G>C | |
9 | g.136673838C>T | CA375577294 | AGPAT2 | c.751G>A (p.Ala251Thr) c.655G>A (p.Ala219Thr) n.679G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673839C>A | CA467737013 | AGPAT2 | c.750G>T (p.Arg250=) c.654G>T (p.Arg218=) n.678G>T | |
9 | g.136673839C>G | CA467737014 | AGPAT2 | c.750G>C (p.Arg250=) c.654G>C (p.Arg218=) n.678G>C | |
9 | g.136673839C>T | CA467737015 | AGPAT2 | c.750G>A (p.Arg250=) c.654G>A (p.Arg218=) n.678G>A | |
9 | g.136673840C>A | CA375577298 | AGPAT2 | c.749G>T (p.Arg250Leu) c.653G>T (p.Arg218Leu) n.677G>T | gnomAD v4 |
9 | g.136673840C>G | CA375577301 | AGPAT2 | c.749G>C (p.Arg250Pro) c.653G>C (p.Arg218Pro) n.677G>C | gnomAD v4 |
9 | g.136673840C>T | CA5342829 | AGPAT2 | c.749G>A (p.Arg250Gln) c.653G>A (p.Arg218Gln) n.677G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673842_136673861dup | CA2692653755 | AGPAT2 | c.730_749dup (p.Ala251SerfsTer9) c.634_653dup (p.Ala219SerfsTer9) n.658_677dup | gnomAD v4 |
9 | g.136673841G>A | CA5342830 | AGPAT2 | c.748C>T (p.Arg250Trp) c.652C>T (p.Arg218Trp) n.676C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673841G>C | CA375577306 | AGPAT2 | c.748C>G (p.Arg250Gly) c.652C>G (p.Arg218Gly) n.676C>G | dbSNP |
9 | g.136673841G>T | CA467737016 | AGPAT2 | c.748C>A (p.Arg250=) c.652C>A (p.Arg218=) n.676C>A | gnomAD v4 COSMIC |
9 | g.136673845_136673851dup | CA2579519878 | AGPAT2 | c.742_748dup (p.Arg250LeufsTer?) c.646_652dup (p.Arg218LeufsTer?) n.670_676dup | gnomAD v4 |
9 | g.136673843_136673865dup | CA2692653756 | AGPAT2 | c.726_748dup (p.Arg250LeufsTer11) c.630_652dup (p.Arg218LeufsTer11) n.654_676dup | gnomAD v4 |
9 | g.136673842G>A | CA5342831 | AGPAT2 | c.747C>T (p.His249=) c.651C>T (p.His217=) n.675C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673842G>C | CA375577309 | AGPAT2 | c.747C>G (p.His249Gln) c.651C>G (p.His217Gln) n.675C>G | |
9 | g.136673842G>T | CA375577310 | AGPAT2 | c.747C>A (p.His249Gln) c.651C>A (p.His217Gln) n.675C>A | |
9 | g.136673844_136673852dup | CA591367748 | AGPAT2 | c.739_747dup (p.His249_Arg250insThrCysHis) c.643_651dup (p.His217_Arg218insThrCysHis) n.667_675dup | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673843T>A | CA375577312 | AGPAT2 | c.746A>T (p.His249Leu) c.650A>T (p.His217Leu) n.674A>T | |
9 | g.136673843T>C | CA375577313 | AGPAT2 | c.746A>G (p.His249Arg) c.650A>G (p.His217Arg) n.674A>G | |
9 | g.136673843T>G | CA375577314 | AGPAT2 | c.746A>C (p.His249Pro) c.650A>C (p.His217Pro) n.674A>C | dbSNP |
9 | g.136673844G>A | CA201626841 | AGPAT2 | c.745C>T (p.His249Tyr) c.649C>T (p.His217Tyr) n.673C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673844G>C | CA375577317 | AGPAT2 | c.745C>G (p.His249Asp) c.649C>G (p.His217Asp) n.673C>G | gnomAD v4 |
9 | g.136673844G>T | CA375577319 | AGPAT2 | c.745C>A (p.His249Asn) c.649C>A (p.His217Asn) n.673C>A | |
9 | g.136673844_136673853dup | CA2579519879 | AGPAT2 | c.736_745dup (p.His249ArgfsTer?) c.640_649dup (p.His217ArgfsTer?) n.664_673dup | |
9 | g.136673845G>A | CA201626851 | AGPAT2 | c.744C>T (p.Cys248=) c.648C>T (p.Cys216=) n.672C>T | dbSNP gnomAD v4 |
9 | g.136673845G>C | CA375577321 | AGPAT2 | c.744C>G (p.Cys248Trp) c.648C>G (p.Cys216Trp) n.672C>G | |
9 | g.136673845G>T | CA375577323 | AGPAT2 | c.744C>A (p.Cys248Ter) c.648C>A (p.Cys216Ter) n.672C>A | |
9 | g.136673847_136673860dup | CA2692653757 | AGPAT2 | c.731_744dup (p.His249SerfsTer9) c.635_648dup (p.His217SerfsTer9) n.659_672dup | gnomAD v4 |
9 | g.136673846C>A | CA375577326 | AGPAT2 | c.743G>T (p.Cys248Phe) c.647G>T (p.Cys216Phe) n.671G>T | gnomAD v4 |
9 | g.136673846C>G | CA375577329 | AGPAT2 | c.743G>C (p.Cys248Ser) c.647G>C (p.Cys216Ser) n.671G>C | |
9 | g.136673846C>T | CA375577327 | AGPAT2 | c.743G>A (p.Cys248Tyr) c.647G>A (p.Cys216Tyr) n.671G>A | |
9 | g.136673847_136673853del | CA2579519880 | AGPAT2 | c.737_743del (p.Asp246AlafsTer5) c.641_647del (p.Asp214AlafsTer5) n.665_671del | |
9 | g.136673847_136673868dup | CA2786279702 | AGPAT2 | c.722_743dup (p.His249ProfsTer?) c.626_647dup (p.His217ProfsTer?) n.650_671dup | |
9 | g.136673847A>C | CA375577332 | AGPAT2 | c.742T>G (p.Cys248Gly) c.646T>G (p.Cys216Gly) n.670T>G | dbSNP |
9 | g.136673847A>G | CA375577333 | AGPAT2 | c.742T>C (p.Cys248Arg) c.646T>C (p.Cys216Arg) n.670T>C | gnomAD v4 |
9 | g.136673847A>T | CA375577335 | AGPAT2 | c.742T>A (p.Cys248Ser) c.646T>A (p.Cys216Ser) n.670T>A | |
9 | g.136673847_136673848del | CA2579519881 | AGPAT2 | c.741_742del (p.Cys248ProfsTer?) c.645_646del (p.Cys216ProfsTer?) n.669_670del | |
9 | g.136673848G>A | CA5342832 | AGPAT2 | c.741C>T (p.Thr247=) c.645C>T (p.Thr215=) n.669C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673848G>C | CA467737017 | AGPAT2 | c.741C>G (p.Thr247=) c.645C>G (p.Thr215=) n.669C>G | |
9 | g.136673848G= | CA2580903230 | AGPAT2 | c.741C= (p.Thr247=) c.645C= (p.Thr215=) n.669C= | |
9 | g.136673848G>T | CA467737018 | AGPAT2 | c.741C>A (p.Thr247=) c.645C>A (p.Thr215=) n.669C>A | gnomAD v4 |
9 | g.136673849G>A | CA201626858 | AGPAT2 | c.740C>T (p.Thr247Ile) c.644C>T (p.Thr215Ile) n.668C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673849G>C | CA375577338 | AGPAT2 | c.740C>G (p.Thr247Ser) c.644C>G (p.Thr215Ser) n.668C>G | |
9 | g.136673849G>T | CA375577340 | AGPAT2 | c.740C>A (p.Thr247Asn) c.644C>A (p.Thr215Asn) n.668C>A | gnomAD v4 |
9 | g.136673850T>A | CA375577342 | AGPAT2 | c.739A>T (p.Thr247Ser) c.643A>T (p.Thr215Ser) n.667A>T | |
9 | g.136673850T>C | CA375577344 | AGPAT2 | c.739A>G (p.Thr247Ala) c.643A>G (p.Thr215Ala) n.667A>G | gnomAD v4 |
9 | g.136673850T>G | CA375577346 | AGPAT2 | c.739A>C (p.Thr247Pro) c.643A>C (p.Thr215Pro) n.667A>C | dbSNP |
9 | g.136673857_136673858insTTGTCCACG | CA2692653758 | AGPAT2 | c.739_740insACGTGGACA (p.Asp246_Thr247insAsnValAsp) c.643_644insACGTGGACA (p.Asp214_Thr215insAsnValAsp) n.667_668insACGTGGACA | gnomAD v4 |
9 | g.136673851G>A | CA467737019 | AGPAT2 | c.738C>T (p.Asp246=) c.642C>T (p.Asp214=) n.666C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673851G>C | CA375577349 | AGPAT2 | c.738C>G (p.Asp246Glu) c.642C>G (p.Asp214Glu) n.666C>G | |
9 | g.136673851G>T | CA375577347 | AGPAT2 | c.738C>A (p.Asp246Glu) c.642C>A (p.Asp214Glu) n.666C>A | |
9 | g.136673851_136673859del | CA2497275506 | AGPAT2 | c.730_738del (p.Leu244_Asp246del) c.634_642del (p.Leu212_Asp214del) n.658_666del | dbSNP |
9 | g.136673852T>A | CA375577350 | AGPAT2 | c.737A>T (p.Asp246Val) c.641A>T (p.Asp214Val) n.665A>T | |
9 | g.136673852T>C | CA375577351 | AGPAT2 | c.737A>G (p.Asp246Gly) c.641A>G (p.Asp214Gly) n.665A>G | gnomAD v4 |
9 | g.136673852T>G | CA375577352 | AGPAT2 | c.737A>C (p.Asp246Ala) c.641A>C (p.Asp214Ala) n.665A>C | |
9 | g.136673853C>A | CA375577354 | AGPAT2 | c.736G>T (p.Asp246Tyr) c.640G>T (p.Asp214Tyr) n.664G>T | |
9 | g.136673853C>G | CA375577356 | AGPAT2 | c.736G>C (p.Asp246His) c.640G>C (p.Asp214His) n.664G>C | |
9 | g.136673853C>T | CA375577358 | AGPAT2 | c.736G>A (p.Asp246Asn) c.640G>A (p.Asp214Asn) n.664G>A | |
9 | g.136673853_136673865dup | CA591367749 | AGPAT2 | c.724_736dup (p.Asp246AlafsTer?) c.628_640dup (p.Asp214AlafsTer?) n.652_664dup | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673854C>A | CA467737026 | AGPAT2 | c.735G>T (p.Val245=) c.639G>T (p.Val213=) n.663G>T | |
9 | g.136673854C>G | CA467737028 | AGPAT2 | c.735G>C (p.Val245=) c.639G>C (p.Val213=) n.663G>C | |
9 | g.136673854C>T | CA467737030 | AGPAT2 | c.735G>A (p.Val245=) c.639G>A (p.Val213=) n.663G>A | |
9 | g.136673855A>C | CA375577360 | AGPAT2 | c.734T>G (p.Val245Gly) c.638T>G (p.Val213Gly) n.662T>G | dbSNP |
9 | g.136673855A>G | CA375577362 | AGPAT2 | c.734T>C (p.Val245Ala) c.638T>C (p.Val213Ala) n.662T>C | |
9 | g.136673855A>T | CA375577364 | AGPAT2 | c.734T>A (p.Val245Glu) c.638T>A (p.Val213Glu) n.662T>A | |
9 | g.136673856C>A | CA375577367 | AGPAT2 | c.733G>T (p.Val245Leu) c.637G>T (p.Val213Leu) n.661G>T | |
9 | g.136673856C>G | CA375577369 | AGPAT2 | c.733G>C (p.Val245Leu) c.637G>C (p.Val213Leu) n.661G>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673856C>T | CA5342833 | AGPAT2 | c.733G>A (p.Val245Met) c.637G>A (p.Val213Met) n.661G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673858_136673861dup | CA2497275507 | AGPAT2 | c.730_733dup (p.Val245AlafsTer?) c.634_637dup (p.Val213AlafsTer?) n.658_661dup | dbSNP |
9 | g.136673858_136673873dup | CA2692653759 | AGPAT2 | c.718_733dup (p.Val245GlyfsTer?) c.622_637dup (p.Val213GlyfsTer?) n.646_661dup | gnomAD v4 |
9 | g.136673857_136673874dup | CA591367750 | AGPAT2 | c.716_733dup (p.Leu244_Val245insAlaAspValProAlaLeu) c.620_637dup (p.Leu212_Val213insAlaAspValProAlaLeu) n.644_661dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673858_136673876dup | CA2692653760 | AGPAT2 | c.715_733dup (p.Val245GlyfsTer?) c.619_637dup (p.Val213GlyfsTer?) n.643_661dup | gnomAD v4 |
9 | g.136673857G>A | CA5342834 | AGPAT2 | c.732C>T (p.Leu244=) c.636C>T (p.Leu212=) n.660C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.136673857G>C | CA467737041 | AGPAT2 | c.732C>G (p.Leu244=) c.636C>G (p.Leu212=) n.660C>G | |
9 | g.136673857G>T | CA467737042 | AGPAT2 | c.732C>A (p.Leu244=) c.636C>A (p.Leu212=) n.660C>A | gnomAD v4 |
9 | g.136673858A>C | CA375577375 | AGPAT2 | c.731T>G (p.Leu244Arg) c.635T>G (p.Leu212Arg) n.659T>G | |
9 | g.136673858A>G | CA375577381 | AGPAT2 | c.731T>C (p.Leu244Pro) c.635T>C (p.Leu212Pro) n.659T>C | |
9 | g.136673858A>T | CA375577378 | AGPAT2 | c.731T>A (p.Leu244His) c.635T>A (p.Leu212His) n.659T>A | |
9 | g.136673859G>A | CA375577384 | AGPAT2 | c.730C>T (p.Leu244Phe) c.634C>T (p.Leu212Phe) n.658C>T | |
9 | g.136673859G>C | CA375577387 | AGPAT2 | c.730C>G (p.Leu244Val) c.634C>G (p.Leu212Val) n.658C>G | |
9 | g.136673859G>T | CA375577390 | AGPAT2 | c.730C>A (p.Leu244Ile) c.634C>A (p.Leu212Ile) n.658C>A | gnomAD v4 |
9 | g.136673859_136673870dup | CA2579519882 | AGPAT2 | c.719_730dup (p.Ala243_Leu244insHisValProAla) c.623_634dup (p.Ala211_Leu212insHisValProAla) n.647_658dup | |
9 | g.136673860del | CA2692653761 | AGPAT2 | c.729del (p.Leu244SerfsTer9) c.633del (p.Leu212SerfsTer9) n.657del | gnomAD v4 |
9 | g.136673860C>A | CA5342836 | AGPAT2 | c.729G>T (p.Ala243=) c.633G>T (p.Ala211=) n.657G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673860C>G | CA467737048 | AGPAT2 | c.729G>C (p.Ala243=) c.633G>C (p.Ala211=) n.657G>C | gnomAD v4 |
9 | g.136673860C>T | CA5342835 | AGPAT2 | c.729G>A (p.Ala243=) c.633G>A (p.Ala211=) n.657G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673861del | CA2692653762 | AGPAT2 | c.728del (p.Ala243GlyfsTer10) c.632del (p.Ala211GlyfsTer10) n.656del | gnomAD v4 |
9 | g.136673861G>A | CA5342838 | AGPAT2 | c.728C>T (p.Ala243Val) c.632C>T (p.Ala211Val) n.656C>T | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
9 | g.136673861G>C | CA375577399 | AGPAT2 | c.728C>G (p.Ala243Gly) c.632C>G (p.Ala211Gly) n.656C>G | |
9 | g.136673861G>T | CA5342837 | AGPAT2 | c.728C>A (p.Ala243Glu) c.632C>A (p.Ala211Glu) n.656C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673862C>A | CA375577403 | AGPAT2 | c.727G>T (p.Ala243Ser) c.631G>T (p.Ala211Ser) n.655G>T | gnomAD v4 |
9 | g.136673862C>G | CA375577405 | AGPAT2 | c.727G>C (p.Ala243Pro) c.631G>C (p.Ala211Pro) n.655G>C | |
9 | g.136673862C>T | CA375577408 | AGPAT2 | c.727G>A (p.Ala243Thr) c.631G>A (p.Ala211Thr) n.655G>A | |
9 | g.136673863A>C | CA467737059 | AGPAT2 | c.726T>G (p.Pro242=) c.630T>G (p.Pro210=) n.654T>G | |
9 | g.136673863A>G | CA467737060 | AGPAT2 | c.726T>C (p.Pro242=) c.630T>C (p.Pro210=) n.654T>C | |
9 | g.136673863A>T | CA467737062 | AGPAT2 | c.726T>A (p.Pro242=) c.630T>A (p.Pro210=) n.654T>A | gnomAD v4 |
9 | g.136673863_136673869del | CA2692653763 | AGPAT2 | c.720_726del (p.Asp240GlufsTer11) c.624_630del (p.Asp208GlufsTer11) n.648_654del | gnomAD v4 |
9 | g.136673864G>A | CA375577415 | AGPAT2 | c.725C>T (p.Pro242Leu) c.629C>T (p.Pro210Leu) n.653C>T | gnomAD v4 |
9 | g.136673864G>C | CA375577417 | AGPAT2 | c.725C>G (p.Pro242Arg) c.629C>G (p.Pro210Arg) n.653C>G | |
9 | g.136673864G>T | CA375577412 | AGPAT2 | c.725C>A (p.Pro242His) c.629C>A (p.Pro210His) n.653C>A | |
9 | g.136673865G>A | CA375577424 | AGPAT2 | c.724C>T (p.Pro242Ser) c.628C>T (p.Pro210Ser) n.652C>T | |
9 | g.136673865G>C | CA5342839 | AGPAT2 | c.724C>G (p.Pro242Ala) c.628C>G (p.Pro210Ala) n.652C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673865G>T | CA375577422 | AGPAT2 | c.724C>A (p.Pro242Thr) c.628C>A (p.Pro210Thr) n.652C>A | |
9 | g.136673866_136673869del | CA2579519883 | AGPAT2 | c.721_724del (p.Val241LeufsTer11) c.625_628del (p.Val209LeufsTer11) n.649_652del | |
9 | g.136673875_136673876insTCACTGGACGTCCGCC | CA2692653764 | AGPAT2 | c.724_725insAGTGAGGCGGACGTCC (p.Pro242GlnfsTer2) c.628_629insAGTGAGGCGGACGTCC (p.Pro210GlnfsTer2) n.652_653insAGTGAGGCGGACGTCC | gnomAD v4 |
9 | g.136673866G>A | CA467737070 | AGPAT2 | c.723C>T (p.Val241=) c.627C>T (p.Val209=) n.651C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673866G>C | CA467737072 | AGPAT2 | c.723C>G (p.Val241=) c.627C>G (p.Val209=) n.651C>G | |
9 | g.136673866G>T | CA467737074 | AGPAT2 | c.723C>A (p.Val241=) c.627C>A (p.Val209=) n.651C>A | |
9 | g.136673867_136673873dup | CA2692653765 | AGPAT2 | c.717_723dup (p.Pro242GlyfsTer?) c.621_627dup (p.Pro210GlyfsTer?) n.645_651dup | gnomAD v4 |
9 | g.136673867A>C | CA375577427 | AGPAT2 | c.722T>G (p.Val241Gly) c.626T>G (p.Val209Gly) n.650T>G | |
9 | g.136673867A>G | CA375577429 | AGPAT2 | c.722T>C (p.Val241Ala) c.626T>C (p.Val209Ala) n.650T>C | gnomAD v4 |
9 | g.136673867A>T | CA375577432 | AGPAT2 | c.722T>A (p.Val241Asp) c.626T>A (p.Val209Asp) n.650T>A | |
9 | g.136673868del | CA861080682 | AGPAT2 | c.721del (p.Val241SerfsTer12) c.625del (p.Val209SerfsTer12) n.649del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673868C>A | CA201626880 | AGPAT2 | c.721G>T (p.Val241Phe) c.625G>T (p.Val209Phe) n.649G>T | dbSNP gnomAD v4 |
9 | g.136673868C>G | CA5342840 | AGPAT2 | c.721G>C (p.Val241Leu) c.625G>C (p.Val209Leu) n.649G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673868C>T | CA5342841 | AGPAT2 | c.721G>A (p.Val241Ile) c.625G>A (p.Val209Ile) n.649G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673869_136673874dup | CA2692653766 | AGPAT2 | c.716_721dup (p.Asp240_Val241insAlaAsp) c.620_625dup (p.Asp208_Val209insAlaAsp) n.644_649dup | gnomAD v4 |
9 | g.136673870_136673887dup | CA2692653767 | AGPAT2 | c.704_721dup (p.Asp240_Val241insGlyLeuThrAlaAlaAsp) c.608_625dup (p.Asp208_Val209insGlyLeuThrAlaAlaAsp) n.632_649dup | gnomAD v4 |
9 | g.136673869G>A | CA5342842 | AGPAT2 | c.720C>T (p.Asp240=) c.624C>T (p.Asp208=) n.648C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673869G>C | CA375577454 | AGPAT2 | c.720C>G (p.Asp240Glu) c.624C>G (p.Asp208Glu) n.648C>G | |
9 | g.136673869G>T | CA375577459 | AGPAT2 | c.720C>A (p.Asp240Glu) c.624C>A (p.Asp208Glu) n.648C>A | |
9 | g.136673870T>A | CA375577463 | AGPAT2 | c.719A>T (p.Asp240Val) c.623A>T (p.Asp208Val) n.647A>T | |
9 | g.136673870T>C | CA375577466 | AGPAT2 | c.719A>G (p.Asp240Gly) c.623A>G (p.Asp208Gly) n.647A>G | COSMIC |
9 | g.136673870T>G | CA5342843 | AGPAT2 | c.719A>C (p.Asp240Ala) c.623A>C (p.Asp208Ala) n.647A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673871C>A | CA375577472 | AGPAT2 | c.718G>T (p.Asp240Tyr) c.622G>T (p.Asp208Tyr) n.646G>T | gnomAD v4 |
9 | g.136673871C>G | CA375577476 | AGPAT2 | c.718G>C (p.Asp240His) c.622G>C (p.Asp208His) n.646G>C | |
9 | g.136673871C>T | CA375577475 | AGPAT2 | c.718G>A (p.Asp240Asn) c.622G>A (p.Asp208Asn) n.646G>A | |
9 | g.136673872_136673875dup | CA591367757 | AGPAT2 | c.715_718dup (p.Asp240GlyfsTer?) c.619_622dup (p.Asp208GlyfsTer?) n.643_646dup | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673875_136673888del | CA1130033196 | AGPAT2 | c.705_718del (p.Leu236ArgfsTer?) c.609_622del (p.Leu204ArgfsTer?) n.633_646del | gnomAD v3 gnomAD v4 |
9 | g.136673872C>A | CA467737091 | AGPAT2 | c.717G>T (p.Ala239=) c.621G>T (p.Ala207=) n.645G>T | gnomAD v4 |
9 | g.136673872C>G | CA467737095 | AGPAT2 | c.717G>C (p.Ala239=) c.621G>C (p.Ala207=) n.645G>C | |
9 | g.136673872C>T | CA5342844 | AGPAT2 | c.717G>A (p.Ala239=) c.621G>A (p.Ala207=) n.645G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673873G>A | CA5342845 | AGPAT2 | c.716C>T (p.Ala239Val) c.620C>T (p.Ala207Val) n.644C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673873G>C | CA375577479 | AGPAT2 | c.716C>G (p.Ala239Gly) c.620C>G (p.Ala207Gly) n.644C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673873G>T | CA375577480 | AGPAT2 | c.716C>A (p.Ala239Glu) c.620C>A (p.Ala207Glu) n.644C>A | gnomAD v4 |
9 | g.136673873dup | CA2579519884 | AGPAT2 | c.716dup (p.Asp240GlyfsTer?) c.620dup (p.Asp208GlyfsTer?) n.644dup | |
9 | g.136673874C>A | CA375577484 | AGPAT2 | c.715G>T (p.Ala239Ser) c.619G>T (p.Ala207Ser) n.643G>T | |
9 | g.136673874C>G | CA375577487 | AGPAT2 | c.715G>C (p.Ala239Pro) c.619G>C (p.Ala207Pro) n.643G>C | |
9 | g.136673874C>T | CA375577491 | AGPAT2 | c.715G>A (p.Ala239Thr) c.619G>A (p.Ala207Thr) n.643G>A | gnomAD v4 |
9 | g.136673875dup | CA591367763 | AGPAT2 | c.715dup (p.Ala239GlyfsTer?) c.619dup (p.Ala207GlyfsTer?) n.643dup | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673875C>A | CA467737117 | AGPAT2 | c.714G>T (p.Ala238=) c.618G>T (p.Ala206=) n.642G>T | gnomAD v4 |
9 | g.136673875C>G | CA467737119 | AGPAT2 | c.714G>C (p.Ala238=) c.618G>C (p.Ala206=) n.642G>C | dbSNP gnomAD v4 |
9 | g.136673875C>T | CA5342846 | AGPAT2 | c.714G>A (p.Ala238=) c.618G>A (p.Ala206=) n.642G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.136673876G>A | CA5342847 | AGPAT2 | c.713C>T (p.Ala238Val) c.617C>T (p.Ala206Val) n.641C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.136673876G>C | CA5342848 | AGPAT2 | c.713C>G (p.Ala238Gly) c.617C>G (p.Ala206Gly) n.641C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673876G>T | CA375577502 | AGPAT2 | c.713C>A (p.Ala238Glu) c.617C>A (p.Ala206Glu) n.641C>A | gnomAD v4 |
9 | g.136673877_136673879del | CA591367767 | AGPAT2 | c.711_713del (p.Ala238del) c.615_617del (p.Ala206del) n.639_641del | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673877_136673881del | CA1130033214 | AGPAT2 | c.709_713del (p.Thr237GlyfsTer?) c.613_617del (p.Thr205GlyfsTer?) n.637_641del | gnomAD v3 gnomAD v4 |
9 | g.136673877C>A | CA375577512 | AGPAT2 | c.712G>T (p.Ala238Ser) c.616G>T (p.Ala206Ser) n.640G>T | |
9 | g.136673877C>G | CA375577509 | AGPAT2 | c.712G>C (p.Ala238Pro) c.616G>C (p.Ala206Pro) n.640G>C | |
9 | g.136673877C>T | CA375577507 | AGPAT2 | c.712G>A (p.Ala238Thr) c.616G>A (p.Ala206Thr) n.640G>A | gnomAD v4 COSMIC |
9 | g.136673878_136673886del | CA2579519885 | AGPAT2 | c.704_712del (p.Gly235_Thr237del) c.608_616del (p.Gly203_Thr205del) n.632_640del | |
9 | g.136673878A>C | CA467737132 | AGPAT2 | c.711T>G (p.Thr237=) c.615T>G (p.Thr205=) n.639T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673878A>G | CA5342849 | AGPAT2 | c.711T>C (p.Thr237=) c.615T>C (p.Thr205=) n.639T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673878A>T | CA467737135 | AGPAT2 | c.711T>A (p.Thr237=) c.615T>A (p.Thr205=) n.639T>A | gnomAD v4 |
9 | g.136673879del | CA861080724 | AGPAT2 | c.710del (p.Thr237MetfsTer16) c.614del (p.Thr205MetfsTer16) n.638del | dbSNP gnomAD v4 |
9 | g.136673879G>A | CA375577516 | AGPAT2 | c.710C>T (p.Thr237Ile) c.614C>T (p.Thr205Ile) n.638C>T | gnomAD v4 |
9 | g.136673879G>C | CA375577518 | AGPAT2 | c.710C>G (p.Thr237Ser) c.614C>G (p.Thr205Ser) n.638C>G | |
9 | g.136673879G>T | CA375577520 | AGPAT2 | c.710C>A (p.Thr237Asn) c.614C>A (p.Thr205Asn) n.638C>A | |
9 | g.136673880T>A | CA375577525 | AGPAT2 | c.709A>T (p.Thr237Ser) c.613A>T (p.Thr205Ser) n.637A>T | |
9 | g.136673880T>C | CA375577528 | AGPAT2 | c.709A>G (p.Thr237Ala) c.613A>G (p.Thr205Ala) n.637A>G | |
9 | g.136673880T>G | CA375577531 | AGPAT2 | c.709A>C (p.Thr237Pro) c.613A>C (p.Thr205Pro) n.637A>C | |
9 | g.136673881G>A | CA467737143 | AGPAT2 | c.708C>T (p.Leu236=) c.612C>T (p.Leu204=) n.636C>T | |
9 | g.136673881G>C | CA467737145 | AGPAT2 | c.708C>G (p.Leu236=) c.612C>G (p.Leu204=) n.636C>G | |
9 | g.136673881G>T | CA467737146 | AGPAT2 | c.708C>A (p.Leu236=) c.612C>A (p.Leu204=) n.636C>A | gnomAD v4 |
9 | g.136673882A>C | CA375577534 | AGPAT2 | c.707T>G (p.Leu236Arg) c.611T>G (p.Leu204Arg) n.635T>G | |
9 | g.136673882A>G | CA375577537 | AGPAT2 | c.707T>C (p.Leu236Pro) c.611T>C (p.Leu204Pro) n.635T>C | gnomAD v4 |
9 | g.136673882A>T | CA375577540 | AGPAT2 | c.707T>A (p.Leu236His) c.611T>A (p.Leu204His) n.635T>A | |
9 | g.136673883G>A | CA5342850 | AGPAT2 | c.706C>T (p.Leu236Phe) c.610C>T (p.Leu204Phe) n.634C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673883G>C | CA375577545 | AGPAT2 | c.706C>G (p.Leu236Val) c.610C>G (p.Leu204Val) n.634C>G | gnomAD v4 |
9 | g.136673883G>T | CA375577548 | AGPAT2 | c.706C>A (p.Leu236Ile) c.610C>A (p.Leu204Ile) n.634C>A | gnomAD v4 |
9 | g.136673884G>A | CA467737152 | AGPAT2 | c.705C>T (p.Gly235=) c.609C>T (p.Gly203=) n.633C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673884G>C | CA467737154 | AGPAT2 | c.705C>G (p.Gly235=) c.609C>G (p.Gly203=) n.633C>G | |
9 | g.136673884G>T | CA467737156 | AGPAT2 | c.705C>A (p.Gly235=) c.609C>A (p.Gly203=) n.633C>A | gnomAD v4 |
9 | g.136673884_136673885del | CA2692653768 | AGPAT2 | c.704_705del (p.Gly235AlafsTer?) c.608_609del (p.Gly203AlafsTer?) n.632_633del | gnomAD v4 |
9 | g.136673885C>A | CA375577556 | AGPAT2 | c.704G>T (p.Gly235Val) c.608G>T (p.Gly203Val) n.632G>T | gnomAD v4 |
9 | g.136673885C>G | CA375577552 | AGPAT2 | c.704G>C (p.Gly235Ala) c.608G>C (p.Gly203Ala) n.632G>C | gnomAD v4 |
9 | g.136673885C>T | CA375577555 | AGPAT2 | c.704G>A (p.Gly235Asp) c.608G>A (p.Gly203Asp) n.632G>A | gnomAD v4 |
9 | g.136673886dup | CA2692653769 | AGPAT2 | c.704dup (p.Leu236ProfsTer?) c.608dup (p.Leu204ProfsTer?) n.632dup | gnomAD v4 |
9 | g.136673886C>A | CA375577561 | AGPAT2 | c.703G>T (p.Gly235Cys) c.607G>T (p.Gly203Cys) n.631G>T | gnomAD v4 |
9 | g.136673886C>G | CA375577564 | AGPAT2 | c.703G>C (p.Gly235Arg) c.607G>C (p.Gly203Arg) n.631G>C | |
9 | g.136673886C>T | CA5342851 | AGPAT2 | c.703G>A (p.Gly235Ser) c.607G>A (p.Gly203Ser) n.631G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673887G>A | CA151608 | AGPAT2 | c.702C>T (p.Ser234=) c.606C>T (p.Ser202=) n.630C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673887G>C | CA375577571 | AGPAT2 | c.702C>G (p.Ser234Arg) c.606C>G (p.Ser202Arg) n.630C>G | |
9 | g.136673887G>T | CA375577575 | AGPAT2 | c.702C>A (p.Ser234Arg) c.606C>A (p.Ser202Arg) n.630C>A | gnomAD v4 |
9 | g.136673888C>A | CA375577578 | AGPAT2 | c.701G>T (p.Ser234Ile) c.605G>T (p.Ser202Ile) n.629G>T | |
9 | g.136673888C>G | CA375577581 | AGPAT2 | c.701G>C (p.Ser234Thr) c.605G>C (p.Ser202Thr) n.629G>C | |
9 | g.136673888C>T | CA375577584 | AGPAT2 | c.701G>A (p.Ser234Asn) c.605G>A (p.Ser202Asn) n.629G>A | |
9 | g.136673889_136673905del | CA2692653770 | AGPAT2 | c.685_701del (p.Glu229ArgfsTer?) c.589_605del (p.Glu197ArgfsTer?) n.613_629del | gnomAD v4 |
9 | g.136673889T>A | CA375577588 | AGPAT2 | c.700A>T (p.Ser234Cys) c.604A>T (p.Ser202Cys) n.628A>T | |
9 | g.136673889T>C | CA375577590 | AGPAT2 | c.700A>G (p.Ser234Gly) c.604A>G (p.Ser202Gly) n.628A>G | gnomAD v4 |
9 | g.136673889T>G | CA375577594 | AGPAT2 | c.700A>C (p.Ser234Arg) c.604A>C (p.Ser202Arg) n.628A>C | |
9 | g.136673890G>A | CA467737165 | AGPAT2 | c.699C>T (p.Thr233=) c.603C>T (p.Thr201=) n.627C>T | gnomAD v4 |
9 | g.136673890G>C | CA467737166 | AGPAT2 | c.699C>G (p.Thr233=) c.603C>G (p.Thr201=) n.627C>G | |
9 | g.136673890G>T | CA467737167 | AGPAT2 | c.699C>A (p.Thr233=) c.603C>A (p.Thr201=) n.627C>A | gnomAD v4 |
9 | g.136673891G>A | CA5342852 | AGPAT2 | c.698C>T (p.Thr233Ile) c.602C>T (p.Thr201Ile) n.626C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673891G>C | CA375577600 | AGPAT2 | c.698C>G (p.Thr233Ser) c.602C>G (p.Thr201Ser) n.626C>G | |
9 | g.136673891G>T | CA375577599 | AGPAT2 | c.698C>A (p.Thr233Asn) c.602C>A (p.Thr201Asn) n.626C>A | ClinVar dbSNP gnomAD v4 |
9 | g.136673892T>A | CA375577605 | AGPAT2 | c.697A>T (p.Thr233Ser) c.601A>T (p.Thr201Ser) n.625A>T | |
9 | g.136673892T>C | CA375577610 | AGPAT2 | c.697A>G (p.Thr233Ala) c.601A>G (p.Thr201Ala) n.625A>G | |
9 | g.136673892T>G | CA375577607 | AGPAT2 | c.697A>C (p.Thr233Pro) c.601A>C (p.Thr201Pro) n.625A>C | |
9 | g.136673893G>A | CA467737170 | AGPAT2 | c.696C>T (p.Pro232=) c.600C>T (p.Pro200=) n.624C>T | gnomAD v4 |
9 | g.136673893G>C | CA467737174 | AGPAT2 | c.696C>G (p.Pro232=) c.600C>G (p.Pro200=) n.624C>G | |
9 | g.136673893G>T | CA467737172 | AGPAT2 | c.696C>A (p.Pro232=) c.600C>A (p.Pro200=) n.624C>A |