Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99600623T>ACA357508079MTTPc.1126T>A (p.Leu376Met)
c.877T>A (p.Leu293Met)
c.1207T>A (p.Leu403Met)
4g.99600623T>CCA440330005MTTPc.1126T>C (p.Leu376=)
c.877T>C (p.Leu293=)
c.1207T>C (p.Leu403=)
4g.99600623T>GCA357508081MTTPc.1126T>G (p.Leu376Val)
c.877T>G (p.Leu293Val)
c.1207T>G (p.Leu403Val)
4g.99600624T>ACA357508089MTTPc.1127T>A (p.Leu376Ter)
c.878T>A (p.Leu293Ter)
c.1208T>A (p.Leu403Ter)
4g.99600624T>CCA357508083MTTPc.1127T>C (p.Leu376Ser)
c.878T>C (p.Leu293Ser)
c.1208T>C (p.Leu403Ser)
 ClinVar dbSNP gnomAD v4
4g.99600624T>GCA357508086MTTPc.1127T>G (p.Leu376Trp)
c.878T>G (p.Leu293Trp)
c.1208T>G (p.Leu403Trp)
 COSMIC
4g.99600624T=CA1480079165MTTPc.1127T= (p.Leu376=)
c.878T= (p.Leu293=)
c.1208T= (p.Leu403=)
4g.99600625G>ACA440330006MTTPc.1128G>A (p.Leu376=)
c.879G>A (p.Leu293=)
c.1209G>A (p.Leu403=)
4g.99600625G>CCA357508092MTTPc.1128G>C (p.Leu376Phe)
c.879G>C (p.Leu293Phe)
c.1209G>C (p.Leu403Phe)
4g.99600625G>TCA357508093MTTPc.1128G>T (p.Leu376Phe)
c.879G>T (p.Leu293Phe)
c.1209G>T (p.Leu403Phe)
4g.99600626G>ACA357508096MTTPc.1129G>A (p.Asp377Asn)
c.880G>A (p.Asp294Asn)
c.1210G>A (p.Asp404Asn)
 gnomAD v4
4g.99600626G>CCA357508098MTTPc.1129G>C (p.Asp377His)
c.880G>C (p.Asp294His)
c.1210G>C (p.Asp404His)
 gnomAD v4
4g.99600626G>TCA357508100MTTPc.1129G>T (p.Asp377Tyr)
c.880G>T (p.Asp294Tyr)
c.1210G>T (p.Asp404Tyr)
4g.99600627A>CCA357508105MTTPc.1130A>C (p.Asp377Ala)
c.881A>C (p.Asp294Ala)
c.1211A>C (p.Asp404Ala)
4g.99600627A>GCA357508102MTTPc.1130A>G (p.Asp377Gly)
c.881A>G (p.Asp294Gly)
c.1211A>G (p.Asp404Gly)
4g.99600627A>TCA357508103MTTPc.1130A>T (p.Asp377Val)
c.881A>T (p.Asp294Val)
c.1211A>T (p.Asp404Val)
4g.99600628C>ACA357508106MTTPc.1131C>A (p.Asp377Glu)
c.882C>A (p.Asp294Glu)
c.1212C>A (p.Asp404Glu)
4g.99600628C>GCA357508107MTTPc.1131C>G (p.Asp377Glu)
c.882C>G (p.Asp294Glu)
c.1212C>G (p.Asp404Glu)
4g.99600628C>TCA440330007MTTPc.1131C>T (p.Asp377=)
c.882C>T (p.Asp294=)
c.1212C>T (p.Asp404=)
4g.99600629T>ACA357508108MTTPc.1132T>A (p.Phe378Ile)
c.883T>A (p.Phe295Ile)
c.1213T>A (p.Phe405Ile)
4g.99600629T>CCA357508109MTTPc.1132T>C (p.Phe378Leu)
c.883T>C (p.Phe295Leu)
c.1213T>C (p.Phe405Leu)
4g.99600629T>GCA357508111MTTPc.1132T>G (p.Phe378Val)
c.883T>G (p.Phe295Val)
c.1213T>G (p.Phe405Val)
4g.99600630T>ACA357508113MTTPc.1133T>A (p.Phe378Tyr)
c.884T>A (p.Phe295Tyr)
c.1214T>A (p.Phe405Tyr)
4g.99600630T>CCA357508120MTTPc.1133T>C (p.Phe378Ser)
c.884T>C (p.Phe295Ser)
c.1214T>C (p.Phe405Ser)
4g.99600630T>GCA357508123MTTPc.1133T>G (p.Phe378Cys)
c.884T>G (p.Phe295Cys)
c.1214T>G (p.Phe405Cys)
4g.99600631T>ACA357508125MTTPc.1134T>A (p.Phe378Leu)
c.885T>A (p.Phe295Leu)
c.1215T>A (p.Phe405Leu)
4g.99600631T>CCA102631392MTTPc.1134T>C (p.Phe378=)
c.885T>C (p.Phe295=)
c.1215T>C (p.Phe405=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.99600631T>GCA357508127MTTPc.1134T>G (p.Phe378Leu)
c.885T>G (p.Phe295Leu)
c.1215T>G (p.Phe405Leu)
4g.99600631T=CA1480079166MTTPc.1134T= (p.Phe378=)
c.885T= (p.Phe295=)
c.1215T= (p.Phe405=)
4g.99600632T>ACA3022037MTTPc.1135T>A (p.Leu379Met)
c.886T>A (p.Leu296Met)
c.1216T>A (p.Leu406Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600632T>CCA3022036MTTPc.1135T>C (p.Leu379=)
c.886T>C (p.Leu296=)
c.1216T>C (p.Leu406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600632T>GCA357508132MTTPc.1135T>G (p.Leu379Val)
c.886T>G (p.Leu296Val)
c.1216T>G (p.Leu406Val)
4g.99600632T=CA1480079167MTTPc.1135T= (p.Leu379=)
c.886T= (p.Leu296=)
c.1216T= (p.Leu406=)
4g.99600633T>ACA357508137MTTPc.1136T>A (p.Leu379Ter)
c.887T>A (p.Leu296Ter)
c.1217T>A (p.Leu406Ter)
4g.99600633T>CCA102631419MTTPc.1136T>C (p.Leu379Ser)
c.887T>C (p.Leu296Ser)
c.1217T>C (p.Leu406Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.99600633T>GCA357508135MTTPc.1136T>G (p.Leu379Trp)
c.887T>G (p.Leu296Trp)
c.1217T>G (p.Leu406Trp)
4g.99600633T=CA1480079168MTTPc.1136T= (p.Leu379=)
c.887T= (p.Leu296=)
c.1217T= (p.Leu406=)
4g.99600634G>ACA440330008MTTPc.1137G>A (p.Leu379=)
c.888G>A (p.Leu296=)
c.1218G>A (p.Leu406=)
4g.99600634G>CCA357508139MTTPc.1137G>C (p.Leu379Phe)
c.888G>C (p.Leu296Phe)
c.1218G>C (p.Leu406Phe)
4g.99600634G>TCA357508142MTTPc.1137G>T (p.Leu379Phe)
c.888G>T (p.Leu296Phe)
c.1218G>T (p.Leu406Phe)
4g.99600635G>ACA357508143MTTPc.1138G>A (p.Asp380Asn)
c.889G>A (p.Asp297Asn)
c.1219G>A (p.Asp407Asn)
4g.99600635G>CCA357508145MTTPc.1138G>C (p.Asp380His)
c.889G>C (p.Asp297His)
c.1219G>C (p.Asp407His)
4g.99600635G>TCA357508146MTTPc.1138G>T (p.Asp380Tyr)
c.889G>T (p.Asp297Tyr)
c.1219G>T (p.Asp407Tyr)
 gnomAD v4
4g.99600636A=CA1480079169MTTPc.1139A= (p.Asp380=)
c.890A= (p.Asp297=)
c.1220A= (p.Asp407=)
4g.99600636A>CCA357508148MTTPc.1139A>C (p.Asp380Ala)
c.890A>C (p.Asp297Ala)
c.1220A>C (p.Asp407Ala)
4g.99600636A>GCA357508150MTTPc.1139A>G (p.Asp380Gly)
c.890A>G (p.Asp297Gly)
c.1220A>G (p.Asp407Gly)
4g.99600636A>TCA102631426MTTPc.1139A>T (p.Asp380Val)
c.890A>T (p.Asp297Val)
c.1220A>T (p.Asp407Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99600637T>ACA357508154MTTPc.1140T>A (p.Asp380Glu)
c.891T>A (p.Asp297Glu)
c.1221T>A (p.Asp407Glu)
4g.99600637T>CCA440330009MTTPc.1140T>C (p.Asp380=)
c.891T>C (p.Asp297=)
c.1221T>C (p.Asp407=)
4g.99600637T>GCA357508157MTTPc.1140T>G (p.Asp380Glu)
c.891T>G (p.Asp297Glu)
c.1221T>G (p.Asp407Glu)
4g.99600638T>ACA357508160MTTPc.1141T>A (p.Phe381Ile)
c.892T>A (p.Phe298Ile)
c.1222T>A (p.Phe408Ile)
4g.99600638T>CCA357508162MTTPc.1141T>C (p.Phe381Leu)
c.892T>C (p.Phe298Leu)
c.1222T>C (p.Phe408Leu)
4g.99600638T>GCA357508165MTTPc.1141T>G (p.Phe381Val)
c.892T>G (p.Phe298Val)
c.1222T>G (p.Phe408Val)
4g.99600639T>ACA357508174MTTPc.1142T>A (p.Phe381Tyr)
c.893T>A (p.Phe298Tyr)
c.1223T>A (p.Phe408Tyr)
4g.99600639T>CCA357508171MTTPc.1142T>C (p.Phe381Ser)
c.893T>C (p.Phe298Ser)
c.1223T>C (p.Phe408Ser)
4g.99600639T>GCA357508168MTTPc.1142T>G (p.Phe381Cys)
c.893T>G (p.Phe298Cys)
c.1223T>G (p.Phe408Cys)
4g.99600640C>ACA357508177MTTPc.1143C>A (p.Phe381Leu)
c.894C>A (p.Phe298Leu)
c.1224C>A (p.Phe408Leu)
4g.99600640C>GCA357508189MTTPc.1143C>G (p.Phe381Leu)
c.894C>G (p.Phe298Leu)
c.1224C>G (p.Phe408Leu)
4g.99600640C>TCA440330010MTTPc.1143C>T (p.Phe381=)
c.894C>T (p.Phe298=)
c.1224C>T (p.Phe408=)
4g.99600641A>CCA357508193MTTPc.1144A>C (p.Lys382Gln)
c.895A>C (p.Lys299Gln)
c.1225A>C (p.Lys409Gln)
4g.99600641A>GCA357508196MTTPc.1144A>G (p.Lys382Glu)
c.895A>G (p.Lys299Glu)
c.1225A>G (p.Lys409Glu)
4g.99600641A>TCA357508200MTTPc.1144A>T (p.Lys382Ter)
c.895A>T (p.Lys299Ter)
c.1225A>T (p.Lys409Ter)
4g.99600644delCA2695203657MTTPc.1147del (p.Ser383ValfsTer26)
c.898del (p.Ser300ValfsTer26)
c.1228del (p.Ser410ValfsTer26)
4g.99600642A>CCA357508204MTTPc.1145A>C (p.Lys382Thr)
c.896A>C (p.Lys299Thr)
c.1226A>C (p.Lys409Thr)
4g.99600642A>GCA357508207MTTPc.1145A>G (p.Lys382Arg)
c.896A>G (p.Lys299Arg)
c.1226A>G (p.Lys409Arg)
4g.99600642A>TCA357508209MTTPc.1145A>T (p.Lys382Ile)
c.896A>T (p.Lys299Ile)
c.1226A>T (p.Lys409Ile)
4g.99600643A>CCA357508211MTTPc.1146A>C (p.Lys382Asn)
c.897A>C (p.Lys299Asn)
c.1227A>C (p.Lys409Asn)
4g.99600643A>GCA440330011MTTPc.1146A>G (p.Lys382=)
c.897A>G (p.Lys299=)
c.1227A>G (p.Lys409=)
4g.99600643A>TCA357508215MTTPc.1146A>T (p.Lys382Asn)
c.897A>T (p.Lys299Asn)
c.1227A>T (p.Lys409Asn)
4g.99600644A=CA1480079170MTTPc.1147A= (p.Ser383=)
c.898A= (p.Ser300=)
c.1228A= (p.Ser410=)
4g.99600644A>CCA357508218MTTPc.1147A>C (p.Ser383Arg)
c.898A>C (p.Ser300Arg)
c.1228A>C (p.Ser410Arg)
4g.99600644A>GCA357508221MTTPc.1147A>G (p.Ser383Gly)
c.898A>G (p.Ser300Gly)
c.1228A>G (p.Ser410Gly)
4g.99600644A>TCA3022038MTTPc.1147A>T (p.Ser383Cys)
c.898A>T (p.Ser300Cys)
c.1228A>T (p.Ser410Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600645G>ACA357508230MTTPc.1148G>A (p.Ser383Asn)
c.899G>A (p.Ser300Asn)
c.1229G>A (p.Ser410Asn)
4g.99600645G>CCA357508233MTTPc.1148G>C (p.Ser383Thr)
c.899G>C (p.Ser300Thr)
c.1229G>C (p.Ser410Thr)
 COSMIC
4g.99600645G>TCA357508228MTTPc.1148G>T (p.Ser383Ile)
c.899G>T (p.Ser300Ile)
c.1229G>T (p.Ser410Ile)
4g.99600646T>ACA357508236MTTPc.1149T>A (p.Ser383Arg)
c.900T>A (p.Ser300Arg)
c.1230T>A (p.Ser410Arg)
4g.99600646T>CCA3022039MTTPc.1149T>C (p.Ser383=)
c.900T>C (p.Ser300=)
c.1230T>C (p.Ser410=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600646T>GCA357508239MTTPc.1149T>G (p.Ser383Arg)
c.900T>G (p.Ser300Arg)
c.1230T>G (p.Ser410Arg)
4g.99600646T=CA1480079171MTTPc.1149T= (p.Ser383=)
c.900T= (p.Ser300=)
c.1230T= (p.Ser410=)
4g.99600647G>ACA3022040MTTPc.1150G>A (p.Asp384Asn)
c.901G>A (p.Asp301Asn)
c.1231G>A (p.Asp411Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600647G>CCA357508243MTTPc.1150G>C (p.Asp384His)
c.901G>C (p.Asp301His)
c.1231G>C (p.Asp411His)
4g.99600647G=CA1480079172MTTPc.1150G= (p.Asp384=)
c.901G= (p.Asp301=)
c.1231G= (p.Asp411=)
4g.99600647G>TCA357508246MTTPc.1150G>T (p.Asp384Tyr)
c.901G>T (p.Asp301Tyr)
c.1231G>T (p.Asp411Tyr)
4g.99600648A=CA1480079173MTTPc.1151A= (p.Asp384=)
c.902A= (p.Asp301=)
c.1232A= (p.Asp411=)
4g.99600648A>CCA3022041MTTPc.1151A>C (p.Asp384Ala)
c.902A>C (p.Asp301Ala)
c.1232A>C (p.Asp411Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600648A>GCA357508249MTTPc.1151A>G (p.Asp384Gly)
c.902A>G (p.Asp301Gly)
c.1232A>G (p.Asp411Gly)
4g.99600648A>TCA357508251MTTPc.1151A>T (p.Asp384Val)
c.902A>T (p.Asp301Val)
c.1232A>T (p.Asp411Val)
4g.99600649C>ACA357508256MTTPc.1152C>A (p.Asp384Glu)
c.903C>A (p.Asp301Glu)
c.1233C>A (p.Asp411Glu)
4g.99600649C>GCA357508258MTTPc.1152C>G (p.Asp384Glu)
c.903C>G (p.Asp301Glu)
c.1233C>G (p.Asp411Glu)
4g.99600649C>TCA440330012MTTPc.1152C>T (p.Asp384=)
c.903C>T (p.Asp301=)
c.1233C>T (p.Asp411=)
4g.99600650A>CCA357508260MTTPc.1153A>C (p.Ser385Arg)
c.904A>C (p.Ser302Arg)
c.1234A>C (p.Ser412Arg)
 gnomAD v4
4g.99600650A>GCA357508262MTTPc.1153A>G (p.Ser385Gly)
c.904A>G (p.Ser302Gly)
c.1234A>G (p.Ser412Gly)
4g.99600650A>TCA357508265MTTPc.1153A>T (p.Ser385Cys)
c.904A>T (p.Ser302Cys)
c.1234A>T (p.Ser412Cys)
4g.99600651G>ACA357508278MTTPc.1154G>A (p.Ser385Asn)
c.905G>A (p.Ser302Asn)
c.1235G>A (p.Ser412Asn)
 COSMIC
4g.99600651G>CCA357508268MTTPc.1154G>C (p.Ser385Thr)
c.905G>C (p.Ser302Thr)
c.1235G>C (p.Ser412Thr)
4g.99600651G>TCA357508274MTTPc.1154G>T (p.Ser385Ile)
c.905G>T (p.Ser302Ile)
c.1235G>T (p.Ser412Ile)
4g.99600652C>ACA357508286MTTPc.1155C>A (p.Ser385Arg)
c.906C>A (p.Ser302Arg)
c.1236C>A (p.Ser412Arg)
4g.99600652C>GCA357508287MTTPc.1155C>G (p.Ser385Arg)
c.906C>G (p.Ser302Arg)
c.1236C>G (p.Ser412Arg)
4g.99600652C>TCA440330013MTTPc.1155C>T (p.Ser385=)
c.906C>T (p.Ser302=)
c.1236C>T (p.Ser412=)
 ClinVar dbSNP
4g.99600653A>CCA357508293MTTPc.1156A>C (p.Ser386Arg)
c.907A>C (p.Ser303Arg)
c.1237A>C (p.Ser413Arg)
4g.99600653A>GCA357508295MTTPc.1156A>G (p.Ser386Gly)
c.907A>G (p.Ser303Gly)
c.1237A>G (p.Ser413Gly)
4g.99600653A>TCA357508298MTTPc.1156A>T (p.Ser386Cys)
c.907A>T (p.Ser303Cys)
c.1237A>T (p.Ser413Cys)
4g.99600654G>ACA357508301MTTPc.1157G>A (p.Ser386Asn)
c.908G>A (p.Ser303Asn)
c.1238G>A (p.Ser413Asn)
 ClinVar gnomAD v4
4g.99600654G>CCA357508304MTTPc.1157G>C (p.Ser386Thr)
c.908G>C (p.Ser303Thr)
c.1238G>C (p.Ser413Thr)
 gnomAD v4
4g.99600654G>TCA357508306MTTPc.1157G>T (p.Ser386Ile)
c.908G>T (p.Ser303Ile)
c.1238G>T (p.Ser413Ile)
 COSMIC
4g.99600655C>ACA357508308MTTPc.1158C>A (p.Ser386Arg)
c.909C>A (p.Ser303Arg)
c.1239C>A (p.Ser413Arg)
4g.99600655C>GCA357508310MTTPc.1158C>G (p.Ser386Arg)
c.909C>G (p.Ser303Arg)
c.1239C>G (p.Ser413Arg)
4g.99600655C>TCA440330014MTTPc.1158C>T (p.Ser386=)
c.909C>T (p.Ser303=)
c.1239C>T (p.Ser413=)
4g.99600656A=CA1480079174MTTPc.1159A= (p.Ile387=)
c.910A= (p.Ile304=)
c.1240A= (p.Ile414=)
4g.99600656A>CCA357508313MTTPc.1159A>C (p.Ile387Leu)
c.910A>C (p.Ile304Leu)
c.1240A>C (p.Ile414Leu)
4g.99600656A>GCA357508316MTTPc.1159A>G (p.Ile387Val)
c.910A>G (p.Ile304Val)
c.1240A>G (p.Ile414Val)
 ClinVar dbSNP gnomAD v4
4g.99600656A>TCA357508318MTTPc.1159A>T (p.Ile387Phe)
c.910A>T (p.Ile304Phe)
c.1240A>T (p.Ile414Phe)
 gnomAD v4
4g.99600657T>ACA357508321MTTPc.1160T>A (p.Ile387Asn)
c.911T>A (p.Ile304Asn)
c.1241T>A (p.Ile414Asn)
4g.99600657T>CCA357508326MTTPc.1160T>C (p.Ile387Thr)
c.911T>C (p.Ile304Thr)
c.1241T>C (p.Ile414Thr)
 dbSNP
4g.99600657T>GCA357508324MTTPc.1160T>G (p.Ile387Ser)
c.911T>G (p.Ile304Ser)
c.1241T>G (p.Ile414Ser)
4g.99600657T=CA1480079175MTTPc.1160T= (p.Ile387=)
c.911T= (p.Ile304=)
c.1241T= (p.Ile414=)
4g.99600657_99600658insATCTCA2695203658MTTPc.1160_1161insATCT (p.Ile388SerfsTer19)
c.911_912insATCT (p.Ile305SerfsTer19)
c.1241_1242insATCT (p.Ile415SerfsTer19)
4g.99600658T>ACA440330015MTTPc.1161T>A (p.Ile387=)
c.912T>A (p.Ile304=)
c.1242T>A (p.Ile414=)
4g.99600658T>CCA440330016MTTPc.1161T>C (p.Ile387=)
c.912T>C (p.Ile304=)
c.1242T>C (p.Ile414=)
4g.99600658T>GCA357508329MTTPc.1161T>G (p.Ile387Met)
c.912T>G (p.Ile304Met)
c.1242T>G (p.Ile414Met)
4g.99600659A>CCA357508333MTTPc.1162A>C (p.Ile388Leu)
c.913A>C (p.Ile305Leu)
c.1243A>C (p.Ile415Leu)
4g.99600659A>GCA357508337MTTPc.1162A>G (p.Ile388Val)
c.913A>G (p.Ile305Val)
c.1243A>G (p.Ile415Val)
4g.99600659A>TCA357508339MTTPc.1162A>T (p.Ile388Phe)
c.913A>T (p.Ile305Phe)
c.1243A>T (p.Ile415Phe)
4g.99600660T>ACA357508343MTTPc.1163T>A (p.Ile388Asn)
c.914T>A (p.Ile305Asn)
c.1244T>A (p.Ile415Asn)
4g.99600660T>CCA357508345MTTPc.1163T>C (p.Ile388Thr)
c.914T>C (p.Ile305Thr)
c.1244T>C (p.Ile415Thr)
 gnomAD v4
4g.99600660T>GCA357508347MTTPc.1163T>G (p.Ile388Ser)
c.914T>G (p.Ile305Ser)
c.1244T>G (p.Ile415Ser)
4g.99600661C>ACA440330018MTTPc.1164C>A (p.Ile388=)
c.915C>A (p.Ile305=)
c.1245C>A (p.Ile415=)
 ClinVar
4g.99600661C>GCA357508351MTTPc.1164C>G (p.Ile388Met)
c.915C>G (p.Ile305Met)
c.1245C>G (p.Ile415Met)
4g.99600661C>TCA440330017MTTPc.1164C>T (p.Ile388=)
c.915C>T (p.Ile305=)
c.1245C>T (p.Ile415=)
4g.99600662C>ACA357508355MTTPc.1165C>A (p.Leu389Ile)
c.916C>A (p.Leu306Ile)
c.1246C>A (p.Leu416Ile)
4g.99600662C=CA1480079176MTTPc.1165C= (p.Leu389=)
c.916C= (p.Leu306=)
c.1246C= (p.Leu416=)
4g.99600662C>GCA357508357MTTPc.1165C>G (p.Leu389Val)
c.916C>G (p.Leu306Val)
c.1246C>G (p.Leu416Val)
 gnomAD v4
4g.99600662C>TCA102631505MTTPc.1165C>T (p.Leu389Phe)
c.916C>T (p.Leu306Phe)
c.1246C>T (p.Leu416Phe)
 dbSNP
4g.99600663T>ACA357508359MTTPc.1166T>A (p.Leu389His)
c.917T>A (p.Leu306His)
c.1247T>A (p.Leu416His)
4g.99600663T>CCA357508361MTTPc.1166T>C (p.Leu389Pro)
c.917T>C (p.Leu306Pro)
c.1247T>C (p.Leu416Pro)
4g.99600663T>GCA357508364MTTPc.1166T>G (p.Leu389Arg)
c.917T>G (p.Leu306Arg)
c.1247T>G (p.Leu416Arg)
4g.99600664C>ACA440330021MTTPc.1167C>A (p.Leu389=)
c.918C>A (p.Leu306=)
c.1248C>A (p.Leu416=)
4g.99600664C=CA1480079177MTTPc.1167C= (p.Leu389=)
c.918C= (p.Leu306=)
c.1248C= (p.Leu416=)
4g.99600664C>GCA440330020MTTPc.1167C>G (p.Leu389=)
c.918C>G (p.Leu306=)
c.1248C>G (p.Leu416=)
 ClinVar dbSNP
4g.99600664C>TCA440330019MTTPc.1167C>T (p.Leu389=)
c.918C>T (p.Leu306=)
c.1248C>T (p.Leu416=)
 ClinVar dbSNP
4g.99600665delCA2580071915MTTPc.1168del (p.Gln390ArgfsTer19)
c.919del (p.Gln307ArgfsTer19)
c.1249del (p.Gln417ArgfsTer19)
 ClinVar
4g.99600665C>ACA357508367MTTPc.1168C>A (p.Gln390Lys)
c.919C>A (p.Gln307Lys)
c.1249C>A (p.Gln417Lys)
4g.99600665C>GCA357508372MTTPc.1168C>G (p.Gln390Glu)
c.919C>G (p.Gln307Glu)
c.1249C>G (p.Gln417Glu)
4g.99600665C>TCA357508369MTTPc.1168C>T (p.Gln390Ter)
c.919C>T (p.Gln307Ter)
c.1249C>T (p.Gln417Ter)
4g.99600666A>CCA357508375MTTPc.1169A>C (p.Gln390Pro)
c.920A>C (p.Gln307Pro)
c.1250A>C (p.Gln417Pro)
4g.99600666A>GCA357508377MTTPc.1169A>G (p.Gln390Arg)
c.920A>G (p.Gln307Arg)
c.1250A>G (p.Gln417Arg)
4g.99600666A>TCA357508379MTTPc.1169A>T (p.Gln390Leu)
c.920A>T (p.Gln307Leu)
c.1250A>T (p.Gln417Leu)
4g.99600667G>ACA440330022MTTPc.1170G>A (p.Gln390=)
c.921G>A (p.Gln307=)
c.1251G>A (p.Gln417=)
 ClinVar dbSNP gnomAD v4
4g.99600667G>CCA357508382MTTPc.1170G>C (p.Gln390His)
c.921G>C (p.Gln307His)
c.1251G>C (p.Gln417His)
4g.99600667G=CA1480079178MTTPc.1170G= (p.Gln390=)
c.921G= (p.Gln307=)
c.1251G= (p.Gln417=)
4g.99600667G>TCA357508385MTTPc.1170G>T (p.Gln390His)
c.921G>T (p.Gln307His)
c.1251G>T (p.Gln417His)
4g.99600668G>ACA3022042MTTPc.1171G>A (p.Glu391Lys)
c.922G>A (p.Glu308Lys)
c.1252G>A (p.Glu418Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600668G>CCA357508388MTTPc.1171G>C (p.Glu391Gln)
c.922G>C (p.Glu308Gln)
c.1252G>C (p.Glu418Gln)
4g.99600668G=CA1480079179MTTPc.1171G= (p.Glu391=)
c.922G= (p.Glu308=)
c.1252G= (p.Glu418=)
4g.99600668G>TCA357508390MTTPc.1171G>T (p.Glu391Ter)
c.922G>T (p.Glu308Ter)
c.1252G>T (p.Glu418Ter)
4g.99600669A>CCA357508393MTTPc.1172A>C (p.Glu391Ala)
c.923A>C (p.Glu308Ala)
c.1253A>C (p.Glu418Ala)
4g.99600669A>GCA357508395MTTPc.1172A>G (p.Glu391Gly)
c.923A>G (p.Glu308Gly)
c.1253A>G (p.Glu418Gly)
4g.99600669A>TCA357508397MTTPc.1172A>T (p.Glu391Val)
c.923A>T (p.Glu308Val)
c.1253A>T (p.Glu418Val)
4g.99600670G>ACA3022043MTTPc.1173G>A (p.Glu391=)
c.924G>A (p.Glu308=)
c.1254G>A (p.Glu418=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600670G>CCA357508403MTTPc.1173G>C (p.Glu391Asp)
c.924G>C (p.Glu308Asp)
c.1254G>C (p.Glu418Asp)
4g.99600670G=CA1480079180MTTPc.1173G= (p.Glu391=)
c.924G= (p.Glu308=)
c.1254G= (p.Glu418=)
4g.99600670G>TCA357508400MTTPc.1173G>T (p.Glu391Asp)
c.924G>T (p.Glu308Asp)
c.1254G>T (p.Glu418Asp)
4g.99600671A=CA1480079181MTTPc.1174A= (p.Arg392=)
c.925A= (p.Arg309=)
c.1255A= (p.Arg419=)
4g.99600671A>CCA440330023MTTPc.1174A>C (p.Arg392=)
c.925A>C (p.Arg309=)
c.1255A>C (p.Arg419=)
4g.99600671A>GCA357508406MTTPc.1174A>G (p.Arg392Gly)
c.925A>G (p.Arg309Gly)
c.1255A>G (p.Arg419Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.99600671A>TCA357508409MTTPc.1174A>T (p.Arg392Trp)
c.925A>T (p.Arg309Trp)
c.1255A>T (p.Arg419Trp)
4g.99600672G>ACA357508416MTTPc.1175G>A (p.Arg392Lys)
c.926G>A (p.Arg309Lys)
c.1256G>A (p.Arg419Lys)
4g.99600672G>CCA357508421MTTPc.1175G>C (p.Arg392Thr)
c.926G>C (p.Arg309Thr)
c.1256G>C (p.Arg419Thr)
4g.99600672G>TCA357508419MTTPc.1175G>T (p.Arg392Met)
c.926G>T (p.Arg309Met)
c.1256G>T (p.Arg419Met)
4g.99600673G>ACA440330024MTTPc.1176G>A (p.Arg392=)
c.927G>A (p.Arg309=)
c.1257G>A (p.Arg419=)
 ClinVar
4g.99600673G>CCA357508424MTTPc.1176G>C (p.Arg392Ser)
c.927G>C (p.Arg309Ser)
c.1257G>C (p.Arg419Ser)
4g.99600673G>TCA357508426MTTPc.1176G>T (p.Arg392Ser)
c.927G>T (p.Arg309Ser)
c.1257G>T (p.Arg419Ser)
4g.99600674T>ACA357508435MTTPc.1177T>A (p.Phe393Ile)
c.928T>A (p.Phe310Ile)
c.1258T>A (p.Phe420Ile)
4g.99600674T>CCA357508438MTTPc.1177T>C (p.Phe393Leu)
c.928T>C (p.Phe310Leu)
c.1258T>C (p.Phe420Leu)
4g.99600674T>GCA357508441MTTPc.1177T>G (p.Phe393Val)
c.928T>G (p.Phe310Val)
c.1258T>G (p.Phe420Val)
4g.99600674_99600675insCTATAAAAAAAGGCATAATCATGGATATCAATGCA2525882001MTTPc.1177_1178insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe393delinsSerIleLysLysGlyIleIleMetAspIleAsnVal)
c.928_929insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe310delinsSerIleLysLysGlyIleIleMetAspIleAsnVal)
c.1258_1259insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe420delinsSerIleLysLysGlyIleIleMetAspIleAsnVal)
4g.99600675T>ACA357508445MTTPc.1178T>A (p.Phe393Tyr)
c.929T>A (p.Phe310Tyr)
c.1259T>A (p.Phe420Tyr)
4g.99600675T>CCA357508448MTTPc.1178T>C (p.Phe393Ser)
c.929T>C (p.Phe310Ser)
c.1259T>C (p.Phe420Ser)
4g.99600675T>GCA357508452MTTPc.1178T>G (p.Phe393Cys)
c.929T>G (p.Phe310Cys)
c.1259T>G (p.Phe420Cys)
4g.99600676T>ACA357508456MTTPc.1179T>A (p.Phe393Leu)
c.930T>A (p.Phe310Leu)
c.1260T>A (p.Phe420Leu)
4g.99600676T>CCA440330025MTTPc.1179T>C (p.Phe393=)
c.930T>C (p.Phe310=)
c.1260T>C (p.Phe420=)
 ClinVar
4g.99600676T>GCA357508460MTTPc.1179T>G (p.Phe393Leu)
c.930T>G (p.Phe310Leu)
c.1260T>G (p.Phe420Leu)
4g.99600677C>ACA357508462MTTPc.1180C>A (p.Leu394Ile)
c.931C>A (p.Leu311Ile)
c.1261C>A (p.Leu421Ile)
 COSMIC
4g.99600677C>GCA357508464MTTPc.1180C>G (p.Leu394Val)
c.931C>G (p.Leu311Val)
c.1261C>G (p.Leu421Val)
4g.99600677C>TCA357508465MTTPc.1180C>T (p.Leu394Phe)
c.931C>T (p.Leu311Phe)
c.1261C>T (p.Leu421Phe)
4g.99600678T>ACA357508467MTTPc.1181T>A (p.Leu394His)
c.932T>A (p.Leu311His)
c.1262T>A (p.Leu421His)
4g.99600678T>CCA357508469MTTPc.1181T>C (p.Leu394Pro)
c.932T>C (p.Leu311Pro)
c.1262T>C (p.Leu421Pro)
 dbSNP gnomAD v3 gnomAD v4
4g.99600678T>GCA357508471MTTPc.1181T>G (p.Leu394Arg)
c.932T>G (p.Leu311Arg)
c.1262T>G (p.Leu421Arg)
4g.99600678T=CA1480079182MTTPc.1181T= (p.Leu394=)
c.932T= (p.Leu311=)
c.1262T= (p.Leu421=)
4g.99600679C>ACA440330026MTTPc.1182C>A (p.Leu394=)
c.933C>A (p.Leu311=)
c.1263C>A (p.Leu421=)
4g.99600679C=CA1480079183MTTPc.1182C= (p.Leu394=)
c.933C= (p.Leu311=)
c.1263C= (p.Leu421=)
4g.99600679C>GCA440330027MTTPc.1182C>G (p.Leu394=)
c.933C>G (p.Leu311=)
c.1263C>G (p.Leu421=)
4g.99600679C>TCA3022044MTTPc.1182C>T (p.Leu394=)
c.933C>T (p.Leu311=)
c.1263C>T (p.Leu421=)
 ClinVar dbSNP ExAC gnomAD v2
4g.99600680T>ACA357508475MTTPc.1183T>A (p.Tyr395Asn)
c.934T>A (p.Tyr312Asn)
c.1264T>A (p.Tyr422Asn)
4g.99600680T>CCA357508476MTTPc.1183T>C (p.Tyr395His)
c.934T>C (p.Tyr312His)
c.1264T>C (p.Tyr422His)
 dbSNP gnomAD v2 gnomAD v4
4g.99600680T>GCA357508478MTTPc.1183T>G (p.Tyr395Asp)
c.934T>G (p.Tyr312Asp)
c.1264T>G (p.Tyr422Asp)
4g.99600680T=CA1480079184MTTPc.1183T= (p.Tyr395=)
c.934T= (p.Tyr312=)
c.1264T= (p.Tyr422=)
4g.99600681A>CCA357508481MTTPc.1184A>C (p.Tyr395Ser)
c.935A>C (p.Tyr312Ser)
c.1265A>C (p.Tyr422Ser)
4g.99600681A>GCA357508482MTTPc.1184A>G (p.Tyr395Cys)
c.935A>G (p.Tyr312Cys)
c.1265A>G (p.Tyr422Cys)
 gnomAD v4
4g.99600681A>TCA357508485MTTPc.1184A>T (p.Tyr395Phe)
c.935A>T (p.Tyr312Phe)
c.1265A>T (p.Tyr422Phe)
4g.99600682T>ACA357508487MTTPc.1185T>A (p.Tyr395Ter)
c.936T>A (p.Tyr312Ter)
c.1266T>A (p.Tyr422Ter)
4g.99600682T>CCA440330028MTTPc.1185T>C (p.Tyr395=)
c.936T>C (p.Tyr312=)
c.1266T>C (p.Tyr422=)
 ClinVar dbSNP
4g.99600682T>GCA357508489MTTPc.1185T>G (p.Tyr395Ter)
c.936T>G (p.Tyr312Ter)
c.1266T>G (p.Tyr422Ter)
4g.99600683G>ACA357508491MTTPc.1186G>A (p.Ala396Thr)
c.937G>A (p.Ala313Thr)
c.1267G>A (p.Ala423Thr)
4g.99600683G>CCA357508492MTTPc.1186G>C (p.Ala396Pro)
c.937G>C (p.Ala313Pro)
c.1267G>C (p.Ala423Pro)
4g.99600683G>TCA357508494MTTPc.1186G>T (p.Ala396Ser)
c.937G>T (p.Ala313Ser)
c.1267G>T (p.Ala423Ser)
4g.99600684C>ACA357508496MTTPc.1187C>A (p.Ala396Asp)
c.938C>A (p.Ala313Asp)
c.1268C>A (p.Ala423Asp)
4g.99600684C>GCA357508498MTTPc.1187C>G (p.Ala396Gly)
c.938C>G (p.Ala313Gly)
c.1268C>G (p.Ala423Gly)
4g.99600684C>TCA357508499MTTPc.1187C>T (p.Ala396Val)
c.938C>T (p.Ala313Val)
c.1268C>T (p.Ala423Val)
4g.99600685C>ACA440330029MTTPc.1188C>A (p.Ala396=)
c.939C>A (p.Ala313=)
c.1269C>A (p.Ala423=)
4g.99600685C>GCA440330031MTTPc.1188C>G (p.Ala396=)
c.939C>G (p.Ala313=)
c.1269C>G (p.Ala423=)
4g.99600685C>TCA440330033MTTPc.1188C>T (p.Ala396=)
c.939C>T (p.Ala313=)
c.1269C>T (p.Ala423=)
4g.99600686T>ACA357508503MTTPc.1189T>A (p.Cys397Ser)
c.940T>A (p.Cys314Ser)
c.1270T>A (p.Cys424Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.99600686T>CCA357508507MTTPc.1189T>C (p.Cys397Arg)
c.940T>C (p.Cys314Arg)
c.1270T>C (p.Cys424Arg)
 gnomAD v4
4g.99600686T>GCA357508504MTTPc.1189T>G (p.Cys397Gly)
c.940T>G (p.Cys314Gly)
c.1270T>G (p.Cys424Gly)
4g.99600686T=CA1480079185MTTPc.1189T= (p.Cys397=)
c.940T= (p.Cys314=)
c.1270T= (p.Cys424=)
4g.99600687G>ACA357508510MTTPc.1190G>A (p.Cys397Tyr)
c.941G>A (p.Cys314Tyr)
c.1271G>A (p.Cys424Tyr)
 dbSNP gnomAD v2 gnomAD v4
4g.99600687G>CCA357508515MTTPc.1190G>C (p.Cys397Ser)
c.941G>C (p.Cys314Ser)
c.1271G>C (p.Cys424Ser)
 gnomAD v4
4g.99600687G=CA1480079186MTTPc.1190G= (p.Cys397=)
c.941G= (p.Cys314=)
c.1271G= (p.Cys424=)
4g.99600687G>TCA357508517MTTPc.1190G>T (p.Cys397Phe)
c.941G>T (p.Cys314Phe)
c.1271G>T (p.Cys424Phe)
4g.99600688T>ACA357508519MTTPc.1191T>A (p.Cys397Ter)
c.942T>A (p.Cys314Ter)
c.1272T>A (p.Cys424Ter)
4g.99600688T>CCA440330036MTTPc.1191T>C (p.Cys397=)
c.942T>C (p.Cys314=)
c.1272T>C (p.Cys424=)
4g.99600688T>GCA357508522MTTPc.1191T>G (p.Cys397Trp)
c.942T>G (p.Cys314Trp)
c.1272T>G (p.Cys424Trp)
4g.99600689G>ACA357508527MTTPc.1192G>A (p.Gly398Arg)
c.943G>A (p.Gly315Arg)
c.1273G>A (p.Gly425Arg)
4g.99600689G>CCA357508525MTTPc.1192G>C (p.Gly398Arg)
c.943G>C (p.Gly315Arg)
c.1273G>C (p.Gly425Arg)
4g.99600689G>TCA357508523MTTPc.1192G>T (p.Gly398Ter)
c.943G>T (p.Gly315Ter)
c.1273G>T (p.Gly425Ter)
4g.99600690G>ACA357508529MTTPc.1193G>A (p.Gly398Glu)
c.944G>A (p.Gly315Glu)
c.1274G>A (p.Gly425Glu)
4g.99600690G>CCA357508530MTTPc.1193G>C (p.Gly398Ala)
c.944G>C (p.Gly315Ala)
c.1274G>C (p.Gly425Ala)
 gnomAD v4 COSMIC
4g.99600690G>TCA357508532MTTPc.1193G>T (p.Gly398Val)
c.944G>T (p.Gly315Val)
c.1274G>T (p.Gly425Val)
4g.99600691A>CCA440330038MTTPc.1194A>C (p.Gly398=)
c.945A>C (p.Gly315=)
c.1275A>C (p.Gly425=)
4g.99600691A>GCA440330039MTTPc.1194A>G (p.Gly398=)
c.945A>G (p.Gly315=)
c.1275A>G (p.Gly425=)
4g.99600691A>TCA440330040MTTPc.1194A>T (p.Gly398=)
c.945A>T (p.Gly315=)
c.1275A>T (p.Gly425=)
4g.99600691_99600692delinsATCA1480079187MTTPc.1194_1195delinsAT (p.Gly398=)
c.945_946delinsAT (p.Gly315=)
c.1275_1276delinsAT (p.Gly425=)
4g.99600692T>ACA357508535MTTPc.1195T>A (p.Phe399Ile)
c.946T>A (p.Phe316Ile)
c.1276T>A (p.Phe426Ile)
4g.99600692T>CCA357508537MTTPc.1195T>C (p.Phe399Leu)
c.946T>C (p.Phe316Leu)
c.1276T>C (p.Phe426Leu)
4g.99600692T>GCA357508539MTTPc.1195T>G (p.Phe399Val)
c.946T>G (p.Phe316Val)
c.1276T>G (p.Phe426Val)
4g.99600694delCA553568413MTTPc.1197del (p.Phe399LeufsTer10)
c.948del (p.Phe316LeufsTer10)
c.1278del (p.Phe426LeufsTer10)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99600693T>ACA357508540MTTPc.1196T>A (p.Phe399Tyr)
c.947T>A (p.Phe316Tyr)
c.1277T>A (p.Phe426Tyr)
4g.99600693T>CCA357508543MTTPc.1196T>C (p.Phe399Ser)
c.947T>C (p.Phe316Ser)
c.1277T>C (p.Phe426Ser)
 gnomAD v4
4g.99600693T>GCA3022045MTTPc.1196T>G (p.Phe399Cys)
c.947T>G (p.Phe316Cys)
c.1277T>G (p.Phe426Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600693T=CA1480079188MTTPc.1196T= (p.Phe399=)
c.947T= (p.Phe316=)
c.1277T= (p.Phe426=)
4g.99600694T>ACA357508545MTTPc.1197T>A (p.Phe399Leu)
c.948T>A (p.Phe316Leu)
c.1278T>A (p.Phe426Leu)
4g.99600694T>CCA440330042MTTPc.1197T>C (p.Phe399=)
c.948T>C (p.Phe316=)
c.1278T>C (p.Phe426=)
4g.99600694T>GCA357508547MTTPc.1197T>G (p.Phe399Leu)
c.948T>G (p.Phe316Leu)
c.1278T>G (p.Phe426Leu)
4g.99600695G>ACA357508549MTTPc.1198G>A (p.Ala400Thr)
c.949G>A (p.Ala317Thr)
c.1279G>A (p.Ala427Thr)
4g.99600695G>CCA357508551MTTPc.1198G>C (p.Ala400Pro)
c.949G>C (p.Ala317Pro)
c.1279G>C (p.Ala427Pro)
4g.99600695G>TCA357508552MTTPc.1198G>T (p.Ala400Ser)
c.949G>T (p.Ala317Ser)
c.1279G>T (p.Ala427Ser)
4g.99600696C>ACA357508554MTTPc.1199C>A (p.Ala400Asp)
c.950C>A (p.Ala317Asp)
c.1280C>A (p.Ala427Asp)
 COSMIC
4g.99600696C=CA1480079189MTTPc.1199C= (p.Ala400=)
c.950C= (p.Ala317=)
c.1280C= (p.Ala427=)
4g.99600696C>GCA357508556MTTPc.1199C>G (p.Ala400Gly)
c.950C>G (p.Ala317Gly)
c.1280C>G (p.Ala427Gly)
4g.99600696C>TCA357508558MTTPc.1199C>T (p.Ala400Val)
c.950C>T (p.Ala317Val)
c.1280C>T (p.Ala427Val)
 dbSNP gnomAD v4
4g.99600697T>ACA440330044MTTPc.1200T>A (p.Ala400=)
c.951T>A (p.Ala317=)
c.1281T>A (p.Ala427=)
4g.99600697T>CCA440330045MTTPc.1200T>C (p.Ala400=)
c.951T>C (p.Ala317=)
c.1281T>C (p.Ala427=)
4g.99600697T>GCA440330046MTTPc.1200T>G (p.Ala400=)
c.951T>G (p.Ala317=)
c.1281T>G (p.Ala427=)
4g.99600698T>ACA357508560MTTPc.1201T>A (p.Ser401Thr)
c.952T>A (p.Ser318Thr)
c.1282T>A (p.Ser428Thr)
4g.99600698T>CCA357508562MTTPc.1201T>C (p.Ser401Pro)
c.952T>C (p.Ser318Pro)
c.1282T>C (p.Ser428Pro)
4g.99600698T>GCA357508563MTTPc.1201T>G (p.Ser401Ala)
c.952T>G (p.Ser318Ala)
c.1282T>G (p.Ser428Ala)
4g.99600699C>ACA357508570MTTPc.1202C>A (p.Ser401Tyr)
c.953C>A (p.Ser318Tyr)
c.1283C>A (p.Ser428Tyr)
 COSMIC
4g.99600699C>GCA357508566MTTPc.1202C>G (p.Ser401Cys)
c.953C>G (p.Ser318Cys)
c.1283C>G (p.Ser428Cys)
4g.99600699C>TCA357508568MTTPc.1202C>T (p.Ser401Phe)
c.953C>T (p.Ser318Phe)
c.1283C>T (p.Ser428Phe)
4g.99600700T>ACA440330049MTTPc.1203T>A (p.Ser401=)
c.954T>A (p.Ser318=)
c.1284T>A (p.Ser428=)
4g.99600700T>CCA440330050MTTPc.1203T>C (p.Ser401=)
c.954T>C (p.Ser318=)
c.1284T>C (p.Ser428=)
4g.99600700T>GCA440330051MTTPc.1203T>G (p.Ser401=)
c.954T>G (p.Ser318=)
c.1284T>G (p.Ser428=)
4g.99600701C>ACA357508571MTTPc.1204C>A (p.His402Asn)
c.955C>A (p.His319Asn)
c.1285C>A (p.His429Asn)
4g.99600701C=CA1480079190MTTPc.1204C= (p.His402=)
c.955C= (p.His319=)
c.1285C= (p.His429=)
4g.99600701C>GCA357508574MTTPc.1204C>G (p.His402Asp)
c.955C>G (p.His319Asp)
c.1285C>G (p.His429Asp)
4g.99600701C>TCA357508577MTTPc.1204C>T (p.His402Tyr)
c.955C>T (p.His319Tyr)
c.1285C>T (p.His429Tyr)
 ClinVar dbSNP gnomAD v4
4g.99600702A>CCA357508578MTTPc.1205A>C (p.His402Pro)
c.956A>C (p.His319Pro)
c.1286A>C (p.His429Pro)
4g.99600702A>GCA357508580MTTPc.1205A>G (p.His402Arg)
c.956A>G (p.His319Arg)
c.1286A>G (p.His429Arg)
4g.99600702A>TCA357508582MTTPc.1205A>T (p.His402Leu)
c.956A>T (p.His319Leu)
c.1286A>T (p.His429Leu)
4g.99600703T>ACA357508586MTTPc.1206T>A (p.His402Gln)
c.957T>A (p.His319Gln)
c.1287T>A (p.His429Gln)
4g.99600703T>CCA440330055MTTPc.1206T>C (p.His402=)
c.957T>C (p.His319=)
c.1287T>C (p.His429=)
4g.99600703T>GCA357508584MTTPc.1206T>G (p.His402Gln)
c.957T>G (p.His319Gln)
c.1287T>G (p.His429Gln)
4g.99600704C>ACA357508589MTTPc.1207C>A (p.Pro403Thr)
c.958C>A (p.Pro320Thr)
c.1288C>A (p.Pro430Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.99600704C=CA1480079191MTTPc.1207C= (p.Pro403=)
c.958C= (p.Pro320=)
c.1288C= (p.Pro430=)
4g.99600704C>GCA357508591MTTPc.1207C>G (p.Pro403Ala)
c.958C>G (p.Pro320Ala)
c.1288C>G (p.Pro430Ala)
4g.99600704C>TCA357508592MTTPc.1207C>T (p.Pro403Ser)
c.958C>T (p.Pro320Ser)
c.1288C>T (p.Pro430Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99600705C>ACA357508594MTTPc.1208C>A (p.Pro403His)
c.959C>A (p.Pro320His)
c.1289C>A (p.Pro430His)
4g.99600705C>GCA357508596MTTPc.1208C>G (p.Pro403Arg)
c.959C>G (p.Pro320Arg)
c.1289C>G (p.Pro430Arg)
4g.99600705C>TCA357508598MTTPc.1208C>T (p.Pro403Leu)
c.959C>T (p.Pro320Leu)
c.1289C>T (p.Pro430Leu)
4g.99600706C>ACA440330060MTTPc.1209C>A (p.Pro403=)
c.960C>A (p.Pro320=)
c.1290C>A (p.Pro430=)
4g.99600706C>GCA440330058MTTPc.1209C>G (p.Pro403=)
c.960C>G (p.Pro320=)
c.1290C>G (p.Pro430=)
 COSMIC
4g.99600706C>TCA440330059MTTPc.1209C>T (p.Pro403=)
c.960C>T (p.Pro320=)
c.1290C>T (p.Pro430=)
 ClinVar gnomAD v4
4g.99600707A=CA1480079192MTTPc.1210A= (p.Asn404=)
c.961A= (p.Asn321=)
c.1291A= (p.Asn431=)
4g.99600707A>CCA357508603MTTPc.1210A>C (p.Asn404His)
c.961A>C (p.Asn321His)
c.1291A>C (p.Asn431His)
4g.99600707A>GCA3022046MTTPc.1210A>G (p.Asn404Asp)
c.961A>G (p.Asn321Asp)
c.1291A>G (p.Asn431Asp)
 dbSNP ExAC gnomAD v2
4g.99600707A>TCA357508601MTTPc.1210A>T (p.Asn404Tyr)
c.961A>T (p.Asn321Tyr)
c.1291A>T (p.Asn431Tyr)
4g.99600708A=CA1480079193MTTPc.1211A= (p.Asn404=)
c.962A= (p.Asn321=)
c.1292A= (p.Asn431=)
4g.99600708A>CCA357508605MTTPc.1211A>C (p.Asn404Thr)
c.962A>C (p.Asn321Thr)
c.1292A>C (p.Asn431Thr)
4g.99600708A>GCA3022047MTTPc.1211A>G (p.Asn404Ser)
c.962A>G (p.Asn321Ser)
c.1292A>G (p.Asn431Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600708A>TCA357508606MTTPc.1211A>T (p.Asn404Ile)
c.962A>T (p.Asn321Ile)
c.1292A>T (p.Asn431Ile)
4g.99600709T>ACA357508608MTTPc.1212T>A (p.Asn404Lys)
c.963T>A (p.Asn321Lys)
c.1293T>A (p.Asn431Lys)
4g.99600709T>CCA440330062MTTPc.1212T>C (p.Asn404=)
c.963T>C (p.Asn321=)
c.1293T>C (p.Asn431=)
4g.99600709T>GCA357508609MTTPc.1212T>G (p.Asn404Lys)
c.963T>G (p.Asn321Lys)
c.1293T>G (p.Asn431Lys)
4g.99600710G>ACA357508612MTTPc.1213G>A (p.Glu405Lys)
c.964G>A (p.Glu322Lys)
c.1294G>A (p.Glu432Lys)
 dbSNP gnomAD v2 gnomAD v4
4g.99600710G>CCA357508614MTTPc.1213G>C (p.Glu405Gln)
c.964G>C (p.Glu322Gln)
c.1294G>C (p.Glu432Gln)
4g.99600710G=CA1480079194MTTPc.1213G= (p.Glu405=)
c.964G= (p.Glu322=)
c.1294G= (p.Glu432=)
4g.99600710G>TCA357508615MTTPc.1213G>T (p.Glu405Ter)
c.964G>T (p.Glu322Ter)
c.1294G>T (p.Glu432Ter)
4g.99600711A>CCA357508618MTTPc.1214A>C (p.Glu405Ala)
c.965A>C (p.Glu322Ala)
c.1295A>C (p.Glu432Ala)
4g.99600711A>GCA357508621MTTPc.1214A>G (p.Glu405Gly)
c.965A>G (p.Glu322Gly)
c.1295A>G (p.Glu432Gly)
4g.99600711A>TCA357508623MTTPc.1214A>T (p.Glu405Val)
c.965A>T (p.Glu322Val)
c.1295A>T (p.Glu432Val)
4g.99600712A>CCA357508625MTTPc.1215A>C (p.Glu405Asp)
c.966A>C (p.Glu322Asp)
c.1296A>C (p.Glu432Asp)
4g.99600712A>GCA440330066MTTPc.1215A>G (p.Glu405=)
c.966A>G (p.Glu322=)
c.1296A>G (p.Glu432=)
4g.99600712A>TCA357508627MTTPc.1215A>T (p.Glu405Asp)
c.966A>T (p.Glu322Asp)
c.1296A>T (p.Glu432Asp)
4g.99600713G>ACA357508629MTTPc.1216G>A (p.Glu406Lys)
c.967G>A (p.Glu323Lys)
c.1297G>A (p.Glu433Lys)
4g.99600713G>CCA357508633MTTPc.1216G>C (p.Glu406Gln)
c.967G>C (p.Glu323Gln)
c.1297G>C (p.Glu433Gln)
4g.99600713G>TCA357508631MTTPc.1216G>T (p.Glu406Ter)
c.967G>T (p.Glu323Ter)
c.1297G>T (p.Glu433Ter)
4g.99600714A>CCA357508635MTTPc.1217A>C (p.Glu406Ala)
c.968A>C (p.Glu323Ala)
c.1298A>C (p.Glu433Ala)
4g.99600714A>GCA357508637MTTPc.1217A>G (p.Glu406Gly)
c.968A>G (p.Glu323Gly)
c.1298A>G (p.Glu433Gly)
4g.99600714A>TCA357508639MTTPc.1217A>T (p.Glu406Val)
c.968A>T (p.Glu323Val)
c.1298A>T (p.Glu433Val)
 gnomAD v4
4g.99600715A=CA1480079195MTTPc.1218A= (p.Glu406=)
c.969A= (p.Glu323=)
c.1299A= (p.Glu433=)
4g.99600715A>CCA357508641MTTPc.1218A>C (p.Glu406Asp)
c.969A>C (p.Glu323Asp)
c.1299A>C (p.Glu433Asp)
4g.99600715A>GCA440330070MTTPc.1218A>G (p.Glu406=)
c.969A>G (p.Glu323=)
c.1299A>G (p.Glu433=)
4g.99600715A>TCA3022048MTTPc.1218A>T (p.Glu406Asp)
c.969A>T (p.Glu323Asp)
c.1299A>T (p.Glu433Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600715_99600718delinsACTCCA1480079196MTTPc.1218_1221delinsACTC (p.Glu406=)
c.969_972delinsACTC (p.Glu323=)
c.1299_1302delinsACTC (p.Glu433=)
4g.99600716C>ACA3022050MTTPc.1219C>A (p.Leu407Ile)
c.970C>A (p.Leu324Ile)
c.1300C>A (p.Leu434Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600716C=CA1480079197MTTPc.1219C= (p.Leu407=)
c.970C= (p.Leu324=)
c.1300C= (p.Leu434=)
4g.99600716C>GCA357508645MTTPc.1219C>G (p.Leu407Val)
c.970C>G (p.Leu324Val)
c.1300C>G (p.Leu434Val)
4g.99600716C>TCA3022049MTTPc.1219C>T (p.Leu407Phe)
c.970C>T (p.Leu324Phe)
c.1300C>T (p.Leu434Phe)
 dbSNP ExAC
4g.99600718_99600720delCA553568414MTTPc.1221_1223del (p.Leu408del)
c.972_974del (p.Leu325del)
c.1302_1304del (p.Leu435del)
 dbSNP gnomAD v2 gnomAD v4
4g.99600717T>ACA357508648MTTPc.1220T>A (p.Leu407His)
c.971T>A (p.Leu324His)
c.1301T>A (p.Leu434His)
4g.99600717T>CCA357508649MTTPc.1220T>C (p.Leu407Pro)
c.971T>C (p.Leu324Pro)
c.1301T>C (p.Leu434Pro)
 ClinVar
4g.99600717T>GCA357508651MTTPc.1220T>G (p.Leu407Arg)
c.971T>G (p.Leu324Arg)
c.1301T>G (p.Leu434Arg)
4g.99600718C>ACA440330072MTTPc.1221C>A (p.Leu407=)
c.972C>A (p.Leu324=)
c.1302C>A (p.Leu434=)
4g.99600718C=CA1480079198MTTPc.1221C= (p.Leu407=)
c.972C= (p.Leu324=)
c.1302C= (p.Leu434=)
4g.99600718C>GCA440330073MTTPc.1221C>G (p.Leu407=)
c.972C>G (p.Leu324=)
c.1302C>G (p.Leu434=)
4g.99600718C>TCA3022051MTTPc.1221C>T (p.Leu407=)
c.972C>T (p.Leu324=)
c.1302C>T (p.Leu434=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600719C>ACA357508654MTTPc.1222C>A (p.Leu408Met)
c.973C>A (p.Leu325Met)
c.1303C>A (p.Leu435Met)
4g.99600719C>GCA357508655MTTPc.1222C>G (p.Leu408Val)
c.973C>G (p.Leu325Val)
c.1303C>G (p.Leu435Val)
4g.99600719C>TCA440330074MTTPc.1222C>T (p.Leu408=)
c.973C>T (p.Leu325=)
c.1303C>T (p.Leu435=)
 ClinVar dbSNP COSMIC
4g.99600720T>ACA357508658MTTPc.1223T>A (p.Leu408Gln)
c.974T>A (p.Leu325Gln)
c.1304T>A (p.Leu435Gln)
4g.99600720T>CCA357508662MTTPc.1223T>C (p.Leu408Pro)
c.974T>C (p.Leu325Pro)
c.1304T>C (p.Leu435Pro)
4g.99600720T>GCA357508660MTTPc.1223T>G (p.Leu408Arg)
c.974T>G (p.Leu325Arg)
c.1304T>G (p.Leu435Arg)
 COSMIC
4g.99600721G>ACA440330076MTTPc.1224G>A (p.Leu408=)
c.975G>A (p.Leu325=)
c.1305G>A (p.Leu435=)
4g.99600721G>CCA440330077MTTPc.1224G>C (p.Leu408=)
c.975G>C (p.Leu325=)
c.1305G>C (p.Leu435=)
4g.99600721G>TCA440330078MTTPc.1224G>T (p.Leu408=)
c.975G>T (p.Leu325=)
c.1305G>T (p.Leu435=)
4g.99600724_99600725delCA2578152334MTTPc.1227_1228del (p.Arg409SerfsTer4)
c.978_979del (p.Arg326SerfsTer4)
c.1308_1309del (p.Arg436SerfsTer4)
4g.99600722A>CCA440330079MTTPc.1225A>C (p.Arg409=)
c.976A>C (p.Arg326=)
c.1306A>C (p.Arg436=)
4g.99600722A>GCA357508663MTTPc.1225A>G (p.Arg409Gly)
c.976A>G (p.Arg326Gly)
c.1306A>G (p.Arg436Gly)
4g.99600722A>TCA357508665MTTPc.1225A>T (p.Arg409Ter)
c.976A>T (p.Arg326Ter)
c.1306A>T (p.Arg436Ter)
4g.99600723G>ACA357508668MTTPc.1226G>A (p.Arg409Lys)
c.977G>A (p.Arg326Lys)
c.1307G>A (p.Arg436Lys)
 gnomAD v4
4g.99600723G>CCA357508670MTTPc.1226G>C (p.Arg409Thr)
c.977G>C (p.Arg326Thr)
c.1307G>C (p.Arg436Thr)
4g.99600723G>TCA357508672MTTPc.1226G>T (p.Arg409Ile)
c.977G>T (p.Arg326Ile)
c.1307G>T (p.Arg436Ile)
4g.99600723_99600724delinsTTCA2573138379MTTPc.1226_1227delinsTT (p.Arg409Ile)
c.977_978delinsTT (p.Arg326Ile)
c.1307_1308delinsTT (p.Arg436Ile)
 ClinVar dbSNP

Number of alleles fetched