Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38351420_38351435del | CA2580089333 | SPRED1 | c.1091_1106del (p.Tyr364CysfsTer?) c.1127_1142del (p.Tyr376CysfsTer?) c.869_884del (p.Tyr290CysfsTer?) c.1028_1043del (p.Tyr343CysfsTer?) | ClinVar |
15 | g.38351422C>A | CA391934104 | SPRED1 | c.1093C>A (p.Gln365Lys) c.1129C>A (p.Gln377Lys) c.871C>A (p.Gln291Lys) c.1030C>A (p.Gln344Lys) | |
15 | g.38351422C>G | CA391934101 | SPRED1 | c.1093C>G (p.Gln365Glu) c.1129C>G (p.Gln377Glu) c.871C>G (p.Gln291Glu) c.1030C>G (p.Gln344Glu) | |
15 | g.38351422C>T | CA391934103 | SPRED1 | c.1093C>T (p.Gln365Ter) c.1129C>T (p.Gln377Ter) c.871C>T (p.Gln291Ter) c.1030C>T (p.Gln344Ter) | COSMIC |
15 | g.38351423A>C | CA391934106 | SPRED1 | c.1094A>C (p.Gln365Pro) c.1130A>C (p.Gln377Pro) c.872A>C (p.Gln291Pro) c.1031A>C (p.Gln344Pro) | |
15 | g.38351423A>G | CA391934108 | SPRED1 | c.1094A>G (p.Gln365Arg) c.1130A>G (p.Gln377Arg) c.872A>G (p.Gln291Arg) c.1031A>G (p.Gln344Arg) | |
15 | g.38351423A>T | CA391934109 | SPRED1 | c.1094A>T (p.Gln365Leu) c.1130A>T (p.Gln377Leu) c.872A>T (p.Gln291Leu) c.1031A>T (p.Gln344Leu) | |
15 | g.38351423_38351427delinsAAGTT | CA2170812711 | SPRED1 | c.1094_1098delinsAAGTT (p.Gln365=) c.1130_1134delinsAAGTT (p.Gln377=) c.872_876delinsAAGTT (p.Gln291=) c.1031_1035delinsAAGTT (p.Gln344=) | |
15 | g.38351424A>C | CA391934110 | SPRED1 | c.1095A>C (p.Gln365His) c.1131A>C (p.Gln377His) c.873A>C (p.Gln291His) c.1032A>C (p.Gln344His) | |
15 | g.38351424A>G | CA490012176 | SPRED1 | c.1095A>G (p.Gln365=) c.1131A>G (p.Gln377=) c.873A>G (p.Gln291=) c.1032A>G (p.Gln344=) | |
15 | g.38351424A>T | CA391934112 | SPRED1 | c.1095A>T (p.Gln365His) c.1131A>T (p.Gln377His) c.873A>T (p.Gln291His) c.1032A>T (p.Gln344His) | |
15 | g.38351428_38351431del | CA658658278 | SPRED1 | c.1099_1102del (p.Ser367AlafsTer?) c.1135_1138del (p.Ser379AlafsTer?) c.877_880del (p.Ser293AlafsTer?) c.1036_1039del (p.Ser346AlafsTer?) | ClinVar dbSNP |
15 | g.38351425G>A | CA7470231 | SPRED1 | c.1096G>A (p.Val366Ile) c.1132G>A (p.Val378Ile) c.874G>A (p.Val292Ile) c.1033G>A (p.Val345Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351425G>C | CA391934116 | SPRED1 | c.1096G>C (p.Val366Leu) c.1132G>C (p.Val378Leu) c.874G>C (p.Val292Leu) c.1033G>C (p.Val345Leu) | |
15 | g.38351425G= | CA2170812712 | SPRED1 | c.1096G= (p.Val366=) c.1132G= (p.Val378=) c.874G= (p.Val292=) c.1033G= (p.Val345=) | |
15 | g.38351425G>T | CA391934114 | SPRED1 | c.1096G>T (p.Val366Phe) c.1132G>T (p.Val378Phe) c.874G>T (p.Val292Phe) c.1033G>T (p.Val345Phe) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351426T>A | CA391934118 | SPRED1 | c.1097T>A (p.Val366Asp) c.1133T>A (p.Val378Asp) c.875T>A (p.Val292Asp) c.1034T>A (p.Val345Asp) | |
15 | g.38351426T>C | CA391934119 | SPRED1 | c.1097T>C (p.Val366Ala) c.1133T>C (p.Val378Ala) c.875T>C (p.Val292Ala) c.1034T>C (p.Val345Ala) | |
15 | g.38351426T>G | CA391934121 | SPRED1 | c.1097T>G (p.Val366Gly) c.1133T>G (p.Val378Gly) c.875T>G (p.Val292Gly) c.1034T>G (p.Val345Gly) | |
15 | g.38351427T>A | CA490012179 | SPRED1 | c.1098T>A (p.Val366=) c.1134T>A (p.Val378=) c.876T>A (p.Val292=) c.1035T>A (p.Val345=) | |
15 | g.38351427T>C | CA490012180 | SPRED1 | c.1098T>C (p.Val366=) c.1134T>C (p.Val378=) c.876T>C (p.Val292=) c.1035T>C (p.Val345=) | |
15 | g.38351427T>G | CA490012182 | SPRED1 | c.1098T>G (p.Val366=) c.1134T>G (p.Val378=) c.876T>G (p.Val292=) c.1035T>G (p.Val345=) | ClinVar dbSNP |
15 | g.38351427T= | CA2170812713 | SPRED1 | c.1098T= (p.Val366=) c.1134T= (p.Val378=) c.876T= (p.Val292=) c.1035T= (p.Val345=) | |
15 | g.38351428A>C | CA391934123 | SPRED1 | c.1099A>C (p.Ser367Arg) c.1135A>C (p.Ser379Arg) c.877A>C (p.Ser293Arg) c.1036A>C (p.Ser346Arg) | |
15 | g.38351428A>G | CA391934124 | SPRED1 | c.1099A>G (p.Ser367Gly) c.1135A>G (p.Ser379Gly) c.877A>G (p.Ser293Gly) c.1036A>G (p.Ser346Gly) | |
15 | g.38351428A>T | CA391934126 | SPRED1 | c.1099A>T (p.Ser367Cys) c.1135A>T (p.Ser379Cys) c.877A>T (p.Ser293Cys) c.1036A>T (p.Ser346Cys) | |
15 | g.38351429G>A | CA391934131 | SPRED1 | c.1100G>A (p.Ser367Asn) c.1136G>A (p.Ser379Asn) c.878G>A (p.Ser293Asn) c.1037G>A (p.Ser346Asn) | gnomAD v4 |
15 | g.38351429G>C | CA391934128 | SPRED1 | c.1100G>C (p.Ser367Thr) c.1136G>C (p.Ser379Thr) c.878G>C (p.Ser293Thr) c.1037G>C (p.Ser346Thr) | |
15 | g.38351429G>T | CA391934129 | SPRED1 | c.1100G>T (p.Ser367Ile) c.1136G>T (p.Ser379Ile) c.878G>T (p.Ser293Ile) c.1037G>T (p.Ser346Ile) | |
15 | g.38351430T>A | CA391934133 | SPRED1 | c.1101T>A (p.Ser367Arg) c.1137T>A (p.Ser379Arg) c.879T>A (p.Ser293Arg) c.1038T>A (p.Ser346Arg) | |
15 | g.38351430T>C | CA490012185 | SPRED1 | c.1101T>C (p.Ser367=) c.1137T>C (p.Ser379=) c.879T>C (p.Ser293=) c.1038T>C (p.Ser346=) | |
15 | g.38351430T>G | CA391934135 | SPRED1 | c.1101T>G (p.Ser367Arg) c.1137T>G (p.Ser379Arg) c.879T>G (p.Ser293Arg) c.1038T>G (p.Ser346Arg) | |
15 | g.38351431T>A | CA391934137 | SPRED1 | c.1102T>A (p.Cys368Ser) c.1138T>A (p.Cys380Ser) c.880T>A (p.Cys294Ser) c.1039T>A (p.Cys347Ser) | |
15 | g.38351431T>C | CA391934138 | SPRED1 | c.1102T>C (p.Cys368Arg) c.1138T>C (p.Cys380Arg) c.880T>C (p.Cys294Arg) c.1039T>C (p.Cys347Arg) | |
15 | g.38351431T>G | CA391934140 | SPRED1 | c.1102T>G (p.Cys368Gly) c.1138T>G (p.Cys380Gly) c.880T>G (p.Cys294Gly) c.1039T>G (p.Cys347Gly) | |
15 | g.38351432G>A | CA391934142 | SPRED1 | c.1103G>A (p.Cys368Tyr) c.1139G>A (p.Cys380Tyr) c.881G>A (p.Cys294Tyr) c.1040G>A (p.Cys347Tyr) | |
15 | g.38351432G>C | CA391934144 | SPRED1 | c.1103G>C (p.Cys368Ser) c.1139G>C (p.Cys380Ser) c.881G>C (p.Cys294Ser) c.1040G>C (p.Cys347Ser) | ClinVar dbSNP |
15 | g.38351432G>T | CA391934143 | SPRED1 | c.1103G>T (p.Cys368Phe) c.1139G>T (p.Cys380Phe) c.881G>T (p.Cys294Phe) c.1040G>T (p.Cys347Phe) | |
15 | g.38351433C>A | CA391934145 | SPRED1 | c.1104C>A (p.Cys368Ter) c.1140C>A (p.Cys380Ter) c.882C>A (p.Cys294Ter) c.1041C>A (p.Cys347Ter) | |
15 | g.38351433C>G | CA391934147 | SPRED1 | c.1104C>G (p.Cys368Trp) c.1140C>G (p.Cys380Trp) c.882C>G (p.Cys294Trp) c.1041C>G (p.Cys347Trp) | |
15 | g.38351433C>T | CA490012190 | SPRED1 | c.1104C>T (p.Cys368=) c.1140C>T (p.Cys380=) c.882C>T (p.Cys294=) c.1041C>T (p.Cys347=) | gnomAD v4 |
15 | g.38351434A= | CA2170812714 | SPRED1 | c.1105A= (p.Met369=) c.1141A= (p.Met381=) c.883A= (p.Met295=) c.1042A= (p.Met348=) | |
15 | g.38351434A>C | CA391934148 | SPRED1 | c.1105A>C (p.Met369Leu) c.1141A>C (p.Met381Leu) c.883A>C (p.Met295Leu) c.1042A>C (p.Met348Leu) | |
15 | g.38351434A>G | CA391934150 | SPRED1 | c.1105A>G (p.Met369Val) c.1141A>G (p.Met381Val) c.883A>G (p.Met295Val) c.1042A>G (p.Met348Val) | |
15 | g.38351434A>T | CA7470232 | SPRED1 | c.1105A>T (p.Met369Leu) c.1141A>T (p.Met381Leu) c.883A>T (p.Met295Leu) c.1042A>T (p.Met348Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351435T>A | CA391934152 | SPRED1 | c.1106T>A (p.Met369Lys) c.1142T>A (p.Met381Lys) c.884T>A (p.Met295Lys) c.1043T>A (p.Met348Lys) | |
15 | g.38351435T>C | CA391934153 | SPRED1 | c.1106T>C (p.Met369Thr) c.1142T>C (p.Met381Thr) c.884T>C (p.Met295Thr) c.1043T>C (p.Met348Thr) | |
15 | g.38351435T>G | CA391934155 | SPRED1 | c.1106T>G (p.Met369Arg) c.1142T>G (p.Met381Arg) c.884T>G (p.Met295Arg) c.1043T>G (p.Met348Arg) | |
15 | g.38351436G>A | CA391934157 | SPRED1 | c.1107G>A (p.Met369Ile) c.1143G>A (p.Met381Ile) c.885G>A (p.Met295Ile) c.1044G>A (p.Met348Ile) | gnomAD v4 |
15 | g.38351436G>C | CA391934159 | SPRED1 | c.1107G>C (p.Met369Ile) c.1143G>C (p.Met381Ile) c.885G>C (p.Met295Ile) c.1044G>C (p.Met348Ile) | |
15 | g.38351436G>T | CA391934160 | SPRED1 | c.1107G>T (p.Met369Ile) c.1143G>T (p.Met381Ile) c.885G>T (p.Met295Ile) c.1044G>T (p.Met348Ile) | gnomAD v4 |
15 | g.38351437C>A | CA391934165 | SPRED1 | c.1108C>A (p.Leu370Ile) c.1144C>A (p.Leu382Ile) c.886C>A (p.Leu296Ile) c.1045C>A (p.Leu349Ile) | |
15 | g.38351437C= | CA2170812715 | SPRED1 | c.1108C= (p.Leu370=) c.1144C= (p.Leu382=) c.886C= (p.Leu296=) c.1045C= (p.Leu349=) | |
15 | g.38351437C>G | CA391934163 | SPRED1 | c.1108C>G (p.Leu370Val) c.1144C>G (p.Leu382Val) c.886C>G (p.Leu296Val) c.1045C>G (p.Leu349Val) | |
15 | g.38351437C>T | CA142268 | SPRED1 | c.1108C>T (p.Leu370Phe) c.1144C>T (p.Leu382Phe) c.886C>T (p.Leu296Phe) c.1045C>T (p.Leu349Phe) | ClinVar dbSNP |
15 | g.38351438T>A | CA391934166 | SPRED1 | c.1109T>A (p.Leu370His) c.1145T>A (p.Leu382His) c.887T>A (p.Leu296His) c.1046T>A (p.Leu349His) | |
15 | g.38351438T>C | CA391934170 | SPRED1 | c.1109T>C (p.Leu370Pro) c.1145T>C (p.Leu382Pro) c.887T>C (p.Leu296Pro) c.1046T>C (p.Leu349Pro) | ClinVar dbSNP |
15 | g.38351438T>G | CA391934168 | SPRED1 | c.1109T>G (p.Leu370Arg) c.1145T>G (p.Leu382Arg) c.887T>G (p.Leu296Arg) c.1046T>G (p.Leu349Arg) | |
15 | g.38351439del | CA645591364 | SPRED1 | c.1110del (p.Cys371ValfsTer?) c.1146del (p.Cys383ValfsTer?) c.888del (p.Cys297ValfsTer?) c.1047del (p.Cys350ValfsTer?) | COSMIC |
15 | g.38351439C>A | CA490012195 | SPRED1 | c.1110C>A (p.Leu370=) c.1146C>A (p.Leu382=) c.888C>A (p.Leu296=) c.1047C>A (p.Leu349=) | |
15 | g.38351439C= | CA2170812716 | SPRED1 | c.1110C= (p.Leu370=) c.1146C= (p.Leu382=) c.888C= (p.Leu296=) c.1047C= (p.Leu349=) | |
15 | g.38351439C>G | CA10576976 | SPRED1 | c.1110C>G (p.Leu370=) c.1146C>G (p.Leu382=) c.888C>G (p.Leu296=) c.1047C>G (p.Leu349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351439C>T | CA490012196 | SPRED1 | c.1110C>T (p.Leu370=) c.1146C>T (p.Leu382=) c.888C>T (p.Leu296=) c.1047C>T (p.Leu349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.38351440T>A | CA391934173 | SPRED1 | c.1111T>A (p.Cys371Ser) c.1147T>A (p.Cys383Ser) c.889T>A (p.Cys297Ser) c.1048T>A (p.Cys350Ser) | |
15 | g.38351440T>C | CA391934171 | SPRED1 | c.1111T>C (p.Cys371Arg) c.1147T>C (p.Cys383Arg) c.889T>C (p.Cys297Arg) c.1048T>C (p.Cys350Arg) | |
15 | g.38351440T>G | CA391934172 | SPRED1 | c.1111T>G (p.Cys371Gly) c.1147T>G (p.Cys383Gly) c.889T>G (p.Cys297Gly) c.1048T>G (p.Cys350Gly) | |
15 | g.38351441G>A | CA391934175 | SPRED1 | c.1112G>A (p.Cys371Tyr) c.1148G>A (p.Cys383Tyr) c.890G>A (p.Cys297Tyr) c.1049G>A (p.Cys350Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351441G>C | CA391934177 | SPRED1 | c.1112G>C (p.Cys371Ser) c.1148G>C (p.Cys383Ser) c.890G>C (p.Cys297Ser) c.1049G>C (p.Cys350Ser) | ClinVar |
15 | g.38351441G= | CA2170812717 | SPRED1 | c.1112G= (p.Cys371=) c.1148G= (p.Cys383=) c.890G= (p.Cys297=) c.1049G= (p.Cys350=) | |
15 | g.38351441G>T | CA391934178 | SPRED1 | c.1112G>T (p.Cys371Phe) c.1148G>T (p.Cys383Phe) c.890G>T (p.Cys297Phe) c.1049G>T (p.Cys350Phe) | |
15 | g.38351442T>A | CA391934180 | SPRED1 | c.1113T>A (p.Cys371Ter) c.1149T>A (p.Cys383Ter) c.891T>A (p.Cys297Ter) c.1050T>A (p.Cys350Ter) | |
15 | g.38351442T>C | CA490012199 | SPRED1 | c.1113T>C (p.Cys371=) c.1149T>C (p.Cys383=) c.891T>C (p.Cys297=) c.1050T>C (p.Cys350=) | |
15 | g.38351442T>G | CA391934182 | SPRED1 | c.1113T>G (p.Cys371Trp) c.1149T>G (p.Cys383Trp) c.891T>G (p.Cys297Trp) c.1050T>G (p.Cys350Trp) | |
15 | g.38351443G>A | CA391934184 | SPRED1 | c.1114G>A (p.Ala372Thr) c.1150G>A (p.Ala384Thr) c.892G>A (p.Ala298Thr) c.1051G>A (p.Ala351Thr) | |
15 | g.38351443G>C | CA391934185 | SPRED1 | c.1114G>C (p.Ala372Pro) c.1150G>C (p.Ala384Pro) c.892G>C (p.Ala298Pro) c.1051G>C (p.Ala351Pro) | |
15 | g.38351443G>T | CA391934186 | SPRED1 | c.1114G>T (p.Ala372Ser) c.1150G>T (p.Ala384Ser) c.892G>T (p.Ala298Ser) c.1051G>T (p.Ala351Ser) | gnomAD v2 gnomAD v4 |
15 | g.38351444C>A | CA391934188 | SPRED1 | c.1115C>A (p.Ala372Glu) c.1151C>A (p.Ala384Glu) c.893C>A (p.Ala298Glu) c.1052C>A (p.Ala351Glu) | |
15 | g.38351444C>G | CA391934190 | SPRED1 | c.1115C>G (p.Ala372Gly) c.1151C>G (p.Ala384Gly) c.893C>G (p.Ala298Gly) c.1052C>G (p.Ala351Gly) | |
15 | g.38351444C>T | CA391934192 | SPRED1 | c.1115C>T (p.Ala372Val) c.1151C>T (p.Ala384Val) c.893C>T (p.Ala298Val) c.1052C>T (p.Ala351Val) | gnomAD v4 |
15 | g.38351445A>C | CA490012203 | SPRED1 | c.1116A>C (p.Ala372=) c.1152A>C (p.Ala384=) c.894A>C (p.Ala298=) c.1053A>C (p.Ala351=) | |
15 | g.38351445A>G | CA490012206 | SPRED1 | c.1116A>G (p.Ala372=) c.1152A>G (p.Ala384=) c.894A>G (p.Ala298=) c.1053A>G (p.Ala351=) | |
15 | g.38351445A>T | CA490012207 | SPRED1 | c.1116A>T (p.Ala372=) c.1152A>T (p.Ala384=) c.894A>T (p.Ala298=) c.1053A>T (p.Ala351=) | |
15 | g.38351446G>A | CA391934196 | SPRED1 | c.1117G>A (p.Glu373Lys) c.1153G>A (p.Glu385Lys) c.895G>A (p.Glu299Lys) c.1054G>A (p.Glu352Lys) | COSMIC |
15 | g.38351446G>C | CA391934195 | SPRED1 | c.1117G>C (p.Glu373Gln) c.1153G>C (p.Glu385Gln) c.895G>C (p.Glu299Gln) c.1054G>C (p.Glu352Gln) | ClinVar |
15 | g.38351446G>T | CA391934193 | SPRED1 | c.1117G>T (p.Glu373Ter) c.1153G>T (p.Glu385Ter) c.895G>T (p.Glu299Ter) c.1054G>T (p.Glu352Ter) | ClinVar |
15 | g.38351447A>C | CA391934198 | SPRED1 | c.1118A>C (p.Glu373Ala) c.1154A>C (p.Glu385Ala) c.896A>C (p.Glu299Ala) c.1055A>C (p.Glu352Ala) | |
15 | g.38351447A>G | CA391934200 | SPRED1 | c.1118A>G (p.Glu373Gly) c.1154A>G (p.Glu385Gly) c.896A>G (p.Glu299Gly) c.1055A>G (p.Glu352Gly) | |
15 | g.38351447A>T | CA391934201 | SPRED1 | c.1118A>T (p.Glu373Val) c.1154A>T (p.Glu385Val) c.896A>T (p.Glu299Val) c.1055A>T (p.Glu352Val) | |
15 | g.38351450_38351474del | CA2575673317 | SPRED1 | c.1121_1145del (p.Ser374ThrfsTer24) c.1157_1181del (p.Ser386ThrfsTer24) c.899_923del (p.Ser300ThrfsTer24) c.1058_1082del (p.Ser353ThrfsTer24) | |
15 | g.38351448G>A | CA490012211 | SPRED1 | c.1119G>A (p.Glu373=) c.1155G>A (p.Glu385=) c.897G>A (p.Glu299=) c.1056G>A (p.Glu352=) | |
15 | g.38351448G>C | CA391934203 | SPRED1 | c.1119G>C (p.Glu373Asp) c.1155G>C (p.Glu385Asp) c.897G>C (p.Glu299Asp) c.1056G>C (p.Glu352Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351448G= | CA2170812718 | SPRED1 | c.1119G= (p.Glu373=) c.1155G= (p.Glu385=) c.897G= (p.Glu299=) c.1056G= (p.Glu352=) | |
15 | g.38351448G>T | CA391934204 | SPRED1 | c.1119G>T (p.Glu373Asp) c.1155G>T (p.Glu385Asp) c.897G>T (p.Glu299Asp) c.1056G>T (p.Glu352Asp) | ClinVar dbSNP |
15 | g.38351449A>C | CA391934206 | SPRED1 | c.1120A>C (p.Ser374Arg) c.1156A>C (p.Ser386Arg) c.898A>C (p.Ser300Arg) c.1057A>C (p.Ser353Arg) | |
15 | g.38351449A>G | CA391934208 | SPRED1 | c.1120A>G (p.Ser374Gly) c.1156A>G (p.Ser386Gly) c.898A>G (p.Ser300Gly) c.1057A>G (p.Ser353Gly) | |
15 | g.38351449A>T | CA391934209 | SPRED1 | c.1120A>T (p.Ser374Cys) c.1156A>T (p.Ser386Cys) c.898A>T (p.Ser300Cys) c.1057A>T (p.Ser353Cys) | |
15 | g.38351450G>A | CA391934210 | SPRED1 | c.1121G>A (p.Ser374Asn) c.1157G>A (p.Ser386Asn) c.899G>A (p.Ser300Asn) c.1058G>A (p.Ser353Asn) | |
15 | g.38351450G>C | CA391934212 | SPRED1 | c.1121G>C (p.Ser374Thr) c.1157G>C (p.Ser386Thr) c.899G>C (p.Ser300Thr) c.1058G>C (p.Ser353Thr) | |
15 | g.38351450G>T | CA391934214 | SPRED1 | c.1121G>T (p.Ser374Ile) c.1157G>T (p.Ser386Ile) c.899G>T (p.Ser300Ile) c.1058G>T (p.Ser353Ile) | gnomAD v4 |
15 | g.38351451C>A | CA391934215 | SPRED1 | c.1122C>A (p.Ser374Arg) c.1158C>A (p.Ser386Arg) c.900C>A (p.Ser300Arg) c.1059C>A (p.Ser353Arg) | |
15 | g.38351451C>G | CA391934216 | SPRED1 | c.1122C>G (p.Ser374Arg) c.1158C>G (p.Ser386Arg) c.900C>G (p.Ser300Arg) c.1059C>G (p.Ser353Arg) | |
15 | g.38351451C>T | CA490012220 | SPRED1 | c.1122C>T (p.Ser374=) c.1158C>T (p.Ser386=) c.900C>T (p.Ser300=) c.1059C>T (p.Ser353=) | COSMIC |
15 | g.38351452A= | CA2170812719 | SPRED1 | c.1123A= (p.Met375=) c.1159A= (p.Met387=) c.901A= (p.Met301=) c.1060A= (p.Met354=) | |
15 | g.38351452A>C | CA391934220 | SPRED1 | c.1123A>C (p.Met375Leu) c.1159A>C (p.Met387Leu) c.901A>C (p.Met301Leu) c.1060A>C (p.Met354Leu) | |
15 | g.38351452A>G | CA391934221 | SPRED1 | c.1123A>G (p.Met375Val) c.1159A>G (p.Met387Val) c.901A>G (p.Met301Val) c.1060A>G (p.Met354Val) | dbSNP gnomAD v4 |
15 | g.38351452A>T | CA391934218 | SPRED1 | c.1123A>T (p.Met375Leu) c.1159A>T (p.Met387Leu) c.901A>T (p.Met301Leu) c.1060A>T (p.Met354Leu) | |
15 | g.38351453T>A | CA391934223 | SPRED1 | c.1124T>A (p.Met375Lys) c.1160T>A (p.Met387Lys) c.902T>A (p.Met301Lys) c.1061T>A (p.Met354Lys) | |
15 | g.38351453T>C | CA391934224 | SPRED1 | c.1124T>C (p.Met375Thr) c.1160T>C (p.Met387Thr) c.902T>C (p.Met301Thr) c.1061T>C (p.Met354Thr) | |
15 | g.38351453T>G | CA391934226 | SPRED1 | c.1124T>G (p.Met375Arg) c.1160T>G (p.Met387Arg) c.902T>G (p.Met301Arg) c.1061T>G (p.Met354Arg) | |
15 | g.38351454G>A | CA391934227 | SPRED1 | c.1125G>A (p.Met375Ile) c.1161G>A (p.Met387Ile) c.903G>A (p.Met301Ile) c.1062G>A (p.Met354Ile) | ClinVar |
15 | g.38351454G>C | CA391934229 | SPRED1 | c.1125G>C (p.Met375Ile) c.1161G>C (p.Met387Ile) c.903G>C (p.Met301Ile) c.1062G>C (p.Met354Ile) | |
15 | g.38351454G= | CA2170812720 | SPRED1 | c.1125G= (p.Met375=) c.1161G= (p.Met387=) c.903G= (p.Met301=) c.1062G= (p.Met354=) | |
15 | g.38351454G>T | CA391934230 | SPRED1 | c.1125G>T (p.Met375Ile) c.1161G>T (p.Met387Ile) c.903G>T (p.Met301Ile) c.1062G>T (p.Met354Ile) | dbSNP |
15 | g.38351455T>A | CA391934232 | SPRED1 | c.1126T>A (p.Leu376Met) c.1162T>A (p.Leu388Met) c.904T>A (p.Leu302Met) c.1063T>A (p.Leu355Met) | |
15 | g.38351455T>C | CA490012235 | SPRED1 | c.1126T>C (p.Leu376=) c.1162T>C (p.Leu388=) c.904T>C (p.Leu302=) c.1063T>C (p.Leu355=) | |
15 | g.38351455T>G | CA391934234 | SPRED1 | c.1126T>G (p.Leu376Val) c.1162T>G (p.Leu388Val) c.904T>G (p.Leu302Val) c.1063T>G (p.Leu355Val) | |
15 | g.38351461_38351468del | CA2573150673 | SPRED1 | c.1132_1139del (p.His378ValfsTer9) c.1168_1175del (p.His390ValfsTer9) c.910_917del (p.His304ValfsTer9) c.1069_1076del (p.His357ValfsTer9) | ClinVar dbSNP |
15 | g.38351456T>A | CA391934235 | SPRED1 | c.1127T>A (p.Leu376Ter) c.1163T>A (p.Leu388Ter) c.905T>A (p.Leu302Ter) c.1064T>A (p.Leu355Ter) | |
15 | g.38351456T>C | CA391934237 | SPRED1 | c.1127T>C (p.Leu376Ser) c.1163T>C (p.Leu388Ser) c.905T>C (p.Leu302Ser) c.1064T>C (p.Leu355Ser) | |
15 | g.38351456T>G | CA391934239 | SPRED1 | c.1127T>G (p.Leu376Trp) c.1163T>G (p.Leu388Trp) c.905T>G (p.Leu302Trp) c.1064T>G (p.Leu355Trp) | |
15 | g.38351457G>A | CA490012239 | SPRED1 | c.1128G>A (p.Leu376=) c.1164G>A (p.Leu388=) c.906G>A (p.Leu302=) c.1065G>A (p.Leu355=) | |
15 | g.38351457G>C | CA391934241 | SPRED1 | c.1128G>C (p.Leu376Phe) c.1164G>C (p.Leu388Phe) c.906G>C (p.Leu302Phe) c.1065G>C (p.Leu355Phe) | |
15 | g.38351457G= | CA2170812721 | SPRED1 | c.1128G= (p.Leu376=) c.1164G= (p.Leu388=) c.906G= (p.Leu302=) c.1065G= (p.Leu355=) | |
15 | g.38351457G>T | CA7470233 | SPRED1 | c.1128G>T (p.Leu376Phe) c.1164G>T (p.Leu388Phe) c.906G>T (p.Leu302Phe) c.1065G>T (p.Leu355Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351458T>A | CA391934243 | SPRED1 | c.1129T>A (p.Tyr377Asn) c.1165T>A (p.Tyr389Asn) c.907T>A (p.Tyr303Asn) c.1066T>A (p.Tyr356Asn) | |
15 | g.38351458T>C | CA391934247 | SPRED1 | c.1129T>C (p.Tyr377His) c.1165T>C (p.Tyr389His) c.907T>C (p.Tyr303His) c.1066T>C (p.Tyr356His) | |
15 | g.38351458T>G | CA391934245 | SPRED1 | c.1129T>G (p.Tyr377Asp) c.1165T>G (p.Tyr389Asp) c.907T>G (p.Tyr303Asp) c.1066T>G (p.Tyr356Asp) | |
15 | g.38351459A>C | CA391934249 | SPRED1 | c.1130A>C (p.Tyr377Ser) c.1166A>C (p.Tyr389Ser) c.908A>C (p.Tyr303Ser) c.1067A>C (p.Tyr356Ser) | |
15 | g.38351459A>G | CA391934251 | SPRED1 | c.1130A>G (p.Tyr377Cys) c.1166A>G (p.Tyr389Cys) c.908A>G (p.Tyr303Cys) c.1067A>G (p.Tyr356Cys) | |
15 | g.38351459A>T | CA391934252 | SPRED1 | c.1130A>T (p.Tyr377Phe) c.1166A>T (p.Tyr389Phe) c.908A>T (p.Tyr303Phe) c.1067A>T (p.Tyr356Phe) | |
15 | g.38351460T>A | CA391934253 | SPRED1 | c.1131T>A (p.Tyr377Ter) c.1167T>A (p.Tyr389Ter) c.909T>A (p.Tyr303Ter) c.1068T>A (p.Tyr356Ter) | |
15 | g.38351460T>C | CA490012252 | SPRED1 | c.1131T>C (p.Tyr377=) c.1167T>C (p.Tyr389=) c.909T>C (p.Tyr303=) c.1068T>C (p.Tyr356=) | gnomAD v4 |
15 | g.38351460T>G | CA391934254 | SPRED1 | c.1131T>G (p.Tyr377Ter) c.1167T>G (p.Tyr389Ter) c.909T>G (p.Tyr303Ter) c.1068T>G (p.Tyr356Ter) | |
15 | g.38351461C>A | CA391934256 | SPRED1 | c.1132C>A (p.His378Asn) c.1168C>A (p.His390Asn) c.910C>A (p.His304Asn) c.1069C>A (p.His357Asn) | |
15 | g.38351461C>G | CA391934258 | SPRED1 | c.1132C>G (p.His378Asp) c.1168C>G (p.His390Asp) c.910C>G (p.His304Asp) c.1069C>G (p.His357Asp) | |
15 | g.38351461C>T | CA391934259 | SPRED1 | c.1132C>T (p.His378Tyr) c.1168C>T (p.His390Tyr) c.910C>T (p.His304Tyr) c.1069C>T (p.His357Tyr) | |
15 | g.38351462A>C | CA391934261 | SPRED1 | c.1133A>C (p.His378Pro) c.1169A>C (p.His390Pro) c.911A>C (p.His304Pro) c.1070A>C (p.His357Pro) | |
15 | g.38351462A>G | CA391934262 | SPRED1 | c.1133A>G (p.His378Arg) c.1169A>G (p.His390Arg) c.911A>G (p.His304Arg) c.1070A>G (p.His357Arg) | |
15 | g.38351462A>T | CA391934263 | SPRED1 | c.1133A>T (p.His378Leu) c.1169A>T (p.His390Leu) c.911A>T (p.His304Leu) c.1070A>T (p.His357Leu) | |
15 | g.38351463T>A | CA391934265 | SPRED1 | c.1134T>A (p.His378Gln) c.1170T>A (p.His390Gln) c.912T>A (p.His304Gln) c.1071T>A (p.His357Gln) | |
15 | g.38351463T>C | CA490012261 | SPRED1 | c.1134T>C (p.His378=) c.1170T>C (p.His390=) c.912T>C (p.His304=) c.1071T>C (p.His357=) | dbSNP |
15 | g.38351463T>G | CA391934266 | SPRED1 | c.1134T>G (p.His378Gln) c.1170T>G (p.His390Gln) c.912T>G (p.His304Gln) c.1071T>G (p.His357Gln) | |
15 | g.38351463T= | CA2170812722 | SPRED1 | c.1134T= (p.His378=) c.1170T= (p.His390=) c.912T= (p.His304=) c.1071T= (p.His357=) | |
15 | g.38351464T>A | CA391934268 | SPRED1 | c.1135T>A (p.Cys379Ser) c.1171T>A (p.Cys391Ser) c.913T>A (p.Cys305Ser) c.1072T>A (p.Cys358Ser) | |
15 | g.38351464T>C | CA391934271 | SPRED1 | c.1135T>C (p.Cys379Arg) c.1171T>C (p.Cys391Arg) c.913T>C (p.Cys305Arg) c.1072T>C (p.Cys358Arg) | |
15 | g.38351464T>G | CA391934270 | SPRED1 | c.1135T>G (p.Cys379Gly) c.1171T>G (p.Cys391Gly) c.913T>G (p.Cys305Gly) c.1072T>G (p.Cys358Gly) | |
15 | g.38351465G>A | CA391934272 | SPRED1 | c.1136G>A (p.Cys379Tyr) c.1172G>A (p.Cys391Tyr) c.914G>A (p.Cys305Tyr) c.1073G>A (p.Cys358Tyr) | |
15 | g.38351465G>C | CA391934274 | SPRED1 | c.1136G>C (p.Cys379Ser) c.1172G>C (p.Cys391Ser) c.914G>C (p.Cys305Ser) c.1073G>C (p.Cys358Ser) | |
15 | g.38351465G>T | CA391934276 | SPRED1 | c.1136G>T (p.Cys379Phe) c.1172G>T (p.Cys391Phe) c.914G>T (p.Cys305Phe) c.1073G>T (p.Cys358Phe) | gnomAD v4 |
15 | g.38351466T>A | CA391934277 | SPRED1 | c.1137T>A (p.Cys379Ter) c.1173T>A (p.Cys391Ter) c.915T>A (p.Cys305Ter) c.1074T>A (p.Cys358Ter) | |
15 | g.38351466T>C | CA490012264 | SPRED1 | c.1137T>C (p.Cys379=) c.1173T>C (p.Cys391=) c.915T>C (p.Cys305=) c.1074T>C (p.Cys358=) | |
15 | g.38351466T>G | CA391934279 | SPRED1 | c.1137T>G (p.Cys379Trp) c.1173T>G (p.Cys391Trp) c.915T>G (p.Cys305Trp) c.1074T>G (p.Cys358Trp) | |
15 | g.38351467A>C | CA391934280 | SPRED1 | c.1138A>C (p.Met380Leu) c.1174A>C (p.Met392Leu) c.916A>C (p.Met306Leu) c.1075A>C (p.Met359Leu) | |
15 | g.38351467A>G | CA391934281 | SPRED1 | c.1138A>G (p.Met380Val) c.1174A>G (p.Met392Val) c.916A>G (p.Met306Val) c.1075A>G (p.Met359Val) | |
15 | g.38351467A>T | CA391934283 | SPRED1 | c.1138A>T (p.Met380Leu) c.1174A>T (p.Met392Leu) c.916A>T (p.Met306Leu) c.1075A>T (p.Met359Leu) | |
15 | g.38351468T>A | CA391934285 | SPRED1 | c.1139T>A (p.Met380Lys) c.1175T>A (p.Met392Lys) c.917T>A (p.Met306Lys) c.1076T>A (p.Met359Lys) | |
15 | g.38351468T>C | CA391934286 | SPRED1 | c.1139T>C (p.Met380Thr) c.1175T>C (p.Met392Thr) c.917T>C (p.Met306Thr) c.1076T>C (p.Met359Thr) | |
15 | g.38351468T>G | CA391934287 | SPRED1 | c.1139T>G (p.Met380Arg) c.1175T>G (p.Met392Arg) c.917T>G (p.Met306Arg) c.1076T>G (p.Met359Arg) | |
15 | g.38351469G>A | CA391934292 | SPRED1 | c.1140G>A (p.Met380Ile) c.1176G>A (p.Met392Ile) c.918G>A (p.Met306Ile) c.1077G>A (p.Met359Ile) | dbSNP |
15 | g.38351469G>C | CA391934290 | SPRED1 | c.1140G>C (p.Met380Ile) c.1176G>C (p.Met392Ile) c.918G>C (p.Met306Ile) c.1077G>C (p.Met359Ile) | |
15 | g.38351469G= | CA2170812723 | SPRED1 | c.1140G= (p.Met380=) c.1176G= (p.Met392=) c.918G= (p.Met306=) c.1077G= (p.Met359=) | |
15 | g.38351469G>T | CA391934289 | SPRED1 | c.1140G>T (p.Met380Ile) c.1176G>T (p.Met392Ile) c.918G>T (p.Met306Ile) c.1077G>T (p.Met359Ile) | |
15 | g.38351470T>A | CA391934294 | SPRED1 | c.1141T>A (p.Ser381Thr) c.1177T>A (p.Ser393Thr) c.919T>A (p.Ser307Thr) c.1078T>A (p.Ser360Thr) | |
15 | g.38351470T>C | CA391934295 | SPRED1 | c.1141T>C (p.Ser381Pro) c.1177T>C (p.Ser393Pro) c.919T>C (p.Ser307Pro) c.1078T>C (p.Ser360Pro) | |
15 | g.38351470T>G | CA391934302 | SPRED1 | c.1141T>G (p.Ser381Ala) c.1177T>G (p.Ser393Ala) c.919T>G (p.Ser307Ala) c.1078T>G (p.Ser360Ala) | |
15 | g.38351471del | CA2739279996 | SPRED1 | c.1142del (p.Ser381Ter) c.1178del (p.Ser393Ter) c.920del (p.Ser307Ter) c.1079del (p.Ser360Ter) | ClinVar |
15 | g.38351471C>A | CA391934304 | SPRED1 | c.1142C>A (p.Ser381Ter) c.1178C>A (p.Ser393Ter) c.920C>A (p.Ser307Ter) c.1079C>A (p.Ser360Ter) | |
15 | g.38351471C>G | CA391934306 | SPRED1 | c.1142C>G (p.Ser381Ter) c.1178C>G (p.Ser393Ter) c.920C>G (p.Ser307Ter) c.1079C>G (p.Ser360Ter) | ClinVar |
15 | g.38351471C>T | CA391934308 | SPRED1 | c.1142C>T (p.Ser381Leu) c.1178C>T (p.Ser393Leu) c.920C>T (p.Ser307Leu) c.1079C>T (p.Ser360Leu) | |
15 | g.38351472A>C | CA490012281 | SPRED1 | c.1143A>C (p.Ser381=) c.1179A>C (p.Ser393=) c.921A>C (p.Ser307=) c.1080A>C (p.Ser360=) | ClinVar gnomAD v4 |
15 | g.38351472A>G | CA490012283 | SPRED1 | c.1143A>G (p.Ser381=) c.1179A>G (p.Ser393=) c.921A>G (p.Ser307=) c.1080A>G (p.Ser360=) | ClinVar |
15 | g.38351472A>T | CA490012278 | SPRED1 | c.1143A>T (p.Ser381=) c.1179A>T (p.Ser393=) c.921A>T (p.Ser307=) c.1080A>T (p.Ser360=) | |
15 | g.38351473G>A | CA391934310 | SPRED1 | c.1144G>A (p.Asp382Asn) c.1180G>A (p.Asp394Asn) c.922G>A (p.Asp308Asn) c.1081G>A (p.Asp361Asn) | |
15 | g.38351473G>C | CA391934312 | SPRED1 | c.1144G>C (p.Asp382His) c.1180G>C (p.Asp394His) c.922G>C (p.Asp308His) c.1081G>C (p.Asp361His) | |
15 | g.38351473G>T | CA391934313 | SPRED1 | c.1144G>T (p.Asp382Tyr) c.1180G>T (p.Asp394Tyr) c.922G>T (p.Asp308Tyr) c.1081G>T (p.Asp361Tyr) | |
15 | g.38351474A>C | CA391934315 | SPRED1 | c.1145A>C (p.Asp382Ala) c.1181A>C (p.Asp394Ala) c.923A>C (p.Asp308Ala) c.1082A>C (p.Asp361Ala) | |
15 | g.38351474A>G | CA391934316 | SPRED1 | c.1145A>G (p.Asp382Gly) c.1181A>G (p.Asp394Gly) c.923A>G (p.Asp308Gly) c.1082A>G (p.Asp361Gly) | |
15 | g.38351474A>T | CA391934318 | SPRED1 | c.1145A>T (p.Asp382Val) c.1181A>T (p.Asp394Val) c.923A>T (p.Asp308Val) c.1082A>T (p.Asp361Val) | ClinVar |
15 | g.38351475C>A | CA391934321 | SPRED1 | c.1146C>A (p.Asp382Glu) c.1182C>A (p.Asp394Glu) c.924C>A (p.Asp308Glu) c.1083C>A (p.Asp361Glu) | |
15 | g.38351475C= | CA2170812724 | SPRED1 | c.1146C= (p.Asp382=) c.1182C= (p.Asp394=) c.924C= (p.Asp308=) c.1083C= (p.Asp361=) | |
15 | g.38351475C>G | CA391934322 | SPRED1 | c.1146C>G (p.Asp382Glu) c.1182C>G (p.Asp394Glu) c.924C>G (p.Asp308Glu) c.1083C>G (p.Asp361Glu) | |
15 | g.38351475C>T | CA490012290 | SPRED1 | c.1146C>T (p.Asp382=) c.1182C>T (p.Asp394=) c.924C>T (p.Asp308=) c.1083C>T (p.Asp361=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351476T>A | CA391934324 | SPRED1 | c.1147T>A (p.Ser383Thr) c.1183T>A (p.Ser395Thr) c.925T>A (p.Ser309Thr) c.1084T>A (p.Ser362Thr) | |
15 | g.38351476T>C | CA7470234 | SPRED1 | c.1147T>C (p.Ser383Pro) c.1183T>C (p.Ser395Pro) c.925T>C (p.Ser309Pro) c.1084T>C (p.Ser362Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351476T>G | CA391934327 | SPRED1 | c.1147T>G (p.Ser383Ala) c.1183T>G (p.Ser395Ala) c.925T>G (p.Ser309Ala) c.1084T>G (p.Ser362Ala) | |
15 | g.38351476T= | CA2170812725 | SPRED1 | c.1147T= (p.Ser383=) c.1183T= (p.Ser395=) c.925T= (p.Ser309=) c.1084T= (p.Ser362=) | |
15 | g.38351477C>A | CA391934328 | SPRED1 | c.1148C>A (p.Ser383Ter) c.1184C>A (p.Ser395Ter) c.926C>A (p.Ser309Ter) c.1085C>A (p.Ser362Ter) | |
15 | g.38351477C>G | CA391934329 | SPRED1 | c.1148C>G (p.Ser383Ter) c.1184C>G (p.Ser395Ter) c.926C>G (p.Ser309Ter) c.1085C>G (p.Ser362Ter) | |
15 | g.38351477C>T | CA391934331 | SPRED1 | c.1148C>T (p.Ser383Leu) c.1184C>T (p.Ser395Leu) c.926C>T (p.Ser309Leu) c.1085C>T (p.Ser362Leu) | |
15 | g.38351477_38351479delinsCAG | CA2170812726 | SPRED1 | c.1148_1150delinsCAG (p.Ser383=) c.1184_1186delinsCAG (p.Ser395=) c.926_928delinsCAG (p.Ser309=) c.1085_1087delinsCAG (p.Ser362=) | |
15 | g.38351477_38351481delinsCAGAG | CA2170812727 | SPRED1 | c.1148_1152delinsCAGAG (p.Ser383=) c.1184_1188delinsCAGAG (p.Ser395=) c.926_930delinsCAGAG (p.Ser309=) c.1085_1089delinsCAGAG (p.Ser362=) | |
15 | g.38351478A>C | CA490012300 | SPRED1 | c.1149A>C (p.Ser383=) c.1185A>C (p.Ser395=) c.927A>C (p.Ser309=) c.1086A>C (p.Ser362=) | gnomAD v4 |
15 | g.38351478A>G | CA490012303 | SPRED1 | c.1149A>G (p.Ser383=) c.1185A>G (p.Ser395=) c.927A>G (p.Ser309=) c.1086A>G (p.Ser362=) | |
15 | g.38351478A>T | CA490012306 | SPRED1 | c.1149A>T (p.Ser383=) c.1185A>T (p.Ser395=) c.927A>T (p.Ser309=) c.1086A>T (p.Ser362=) | |
15 | g.38351478_38351479delinsAG | CA2170812728 | SPRED1 | c.1149_1150delinsAG (p.Ser383=) c.1185_1186delinsAG (p.Ser395=) c.927_928delinsAG (p.Ser309=) c.1086_1087delinsAG (p.Ser362=) | |
15 | g.38351478_38351481del | CA658761255 | SPRED1 | c.1149_1152del (p.Gly385IlefsTer20) c.1185_1188del (p.Gly397IlefsTer20) c.927_930del (p.Gly311IlefsTer20) c.1086_1089del (p.Gly364IlefsTer20) | ClinVar dbSNP gnomAD v4 |
15 | g.38351480_38351481del | CA10583236 | SPRED1 | c.1151_1152del (p.Glu384GlyfsTer5) c.1187_1188del (p.Glu396GlyfsTer5) c.929_930del (p.Glu310GlyfsTer5) c.1088_1089del (p.Glu363GlyfsTer5) | ClinVar dbSNP gnomAD v4 |
15 | g.38351479del | CA7470235 | SPRED1 | c.1150del (p.Glu384ArgfsTer22) c.1186del (p.Glu396ArgfsTer22) c.928del (p.Glu310ArgfsTer22) c.1087del (p.Glu363ArgfsTer22) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351479G>A | CA391934334 | SPRED1 | c.1150G>A (p.Glu384Lys) c.1186G>A (p.Glu396Lys) c.928G>A (p.Glu310Lys) c.1087G>A (p.Glu363Lys) | |
15 | g.38351479G>C | CA391934336 | SPRED1 | c.1150G>C (p.Glu384Gln) c.1186G>C (p.Glu396Gln) c.928G>C (p.Glu310Gln) c.1087G>C (p.Glu363Gln) | |
15 | g.38351479G>T | CA391934337 | SPRED1 | c.1150G>T (p.Glu384Ter) c.1186G>T (p.Glu396Ter) c.928G>T (p.Glu310Ter) c.1087G>T (p.Glu363Ter) | |
15 | g.38351479_38351480delinsGA | CA2170812729 | SPRED1 | c.1150_1151delinsGA (p.Glu384=) c.1186_1187delinsGA (p.Glu396=) c.928_929delinsGA (p.Glu310=) c.1087_1088delinsGA (p.Glu363=) | |
15 | g.38351480del | CA915946532 | SPRED1 | c.1151del (p.Glu384GlyfsTer22) c.1187del (p.Glu396GlyfsTer22) c.929del (p.Glu310GlyfsTer22) c.1088del (p.Glu363GlyfsTer22) | ClinVar dbSNP |
15 | g.38351480A>C | CA391934338 | SPRED1 | c.1151A>C (p.Glu384Ala) c.1187A>C (p.Glu396Ala) c.929A>C (p.Glu310Ala) c.1088A>C (p.Glu363Ala) | |
15 | g.38351480A>G | CA391934339 | SPRED1 | c.1151A>G (p.Glu384Gly) c.1187A>G (p.Glu396Gly) c.929A>G (p.Glu310Gly) c.1088A>G (p.Glu363Gly) | |
15 | g.38351480A>T | CA391934341 | SPRED1 | c.1151A>T (p.Glu384Val) c.1187A>T (p.Glu396Val) c.929A>T (p.Glu310Val) c.1088A>T (p.Glu363Val) | |
15 | g.38351481G>A | CA490012316 | SPRED1 | c.1152G>A (p.Glu384=) c.1188G>A (p.Glu396=) c.930G>A (p.Glu310=) c.1089G>A (p.Glu363=) | |
15 | g.38351481G>C | CA391934342 | SPRED1 | c.1152G>C (p.Glu384Asp) c.1188G>C (p.Glu396Asp) c.930G>C (p.Glu310Asp) c.1089G>C (p.Glu363Asp) | |
15 | g.38351481G>T | CA391934344 | SPRED1 | c.1152G>T (p.Glu384Asp) c.1188G>T (p.Glu396Asp) c.930G>T (p.Glu310Asp) c.1089G>T (p.Glu363Asp) | |
15 | g.38351482G>A | CA391934346 | SPRED1 | c.1153G>A (p.Gly385Arg) c.1189G>A (p.Gly397Arg) c.931G>A (p.Gly311Arg) c.1090G>A (p.Gly364Arg) | |
15 | g.38351482G>C | CA391934347 | SPRED1 | c.1153G>C (p.Gly385Arg) c.1189G>C (p.Gly397Arg) c.931G>C (p.Gly311Arg) c.1090G>C (p.Gly364Arg) | |
15 | g.38351482G>T | CA391934349 | SPRED1 | c.1153G>T (p.Gly385Ter) c.1189G>T (p.Gly397Ter) c.931G>T (p.Gly311Ter) c.1090G>T (p.Gly364Ter) | |
15 | g.38351483G>A | CA391934351 | SPRED1 | c.1154G>A (p.Gly385Glu) c.1190G>A (p.Gly397Glu) c.932G>A (p.Gly311Glu) c.1091G>A (p.Gly364Glu) | |
15 | g.38351483G>C | CA391934357 | SPRED1 | c.1154G>C (p.Gly385Ala) c.1190G>C (p.Gly397Ala) c.932G>C (p.Gly311Ala) c.1091G>C (p.Gly364Ala) | |
15 | g.38351483G>T | CA391934360 | SPRED1 | c.1154G>T (p.Gly385Val) c.1190G>T (p.Gly397Val) c.932G>T (p.Gly311Val) c.1091G>T (p.Gly364Val) | |
15 | g.38351484del | CA658761258 | SPRED1 | c.1155del (p.Asp386IlefsTer20) c.1191del (p.Asp398IlefsTer20) c.933del (p.Asp312IlefsTer20) c.1092del (p.Asp365IlefsTer20) | |
15 | g.38351484A>C | CA490012324 | SPRED1 | c.1155A>C (p.Gly385=) c.1191A>C (p.Gly397=) c.933A>C (p.Gly311=) c.1092A>C (p.Gly364=) | |
15 | g.38351484A>G | CA490012326 | SPRED1 | c.1155A>G (p.Gly385=) c.1191A>G (p.Gly397=) c.933A>G (p.Gly311=) c.1092A>G (p.Gly364=) | |
15 | g.38351484A>T | CA490012327 | SPRED1 | c.1155A>T (p.Gly385=) c.1191A>T (p.Gly397=) c.933A>T (p.Gly311=) c.1092A>T (p.Gly364=) | |
15 | g.38351485G>A | CA391934362 | SPRED1 | c.1156G>A (p.Asp386Asn) c.1192G>A (p.Asp398Asn) c.934G>A (p.Asp312Asn) c.1093G>A (p.Asp365Asn) | |
15 | g.38351485G>C | CA391934363 | SPRED1 | c.1156G>C (p.Asp386His) c.1192G>C (p.Asp398His) c.934G>C (p.Asp312His) c.1093G>C (p.Asp365His) | |
15 | g.38351485G>T | CA391934365 | SPRED1 | c.1156G>T (p.Asp386Tyr) c.1192G>T (p.Asp398Tyr) c.934G>T (p.Asp312Tyr) c.1093G>T (p.Asp365Tyr) | |
15 | g.38351486A>C | CA391934367 | SPRED1 | c.1157A>C (p.Asp386Ala) c.1193A>C (p.Asp398Ala) c.935A>C (p.Asp312Ala) c.1094A>C (p.Asp365Ala) | |
15 | g.38351486A>G | CA391934368 | SPRED1 | c.1157A>G (p.Asp386Gly) c.1193A>G (p.Asp398Gly) c.935A>G (p.Asp312Gly) c.1094A>G (p.Asp365Gly) | |
15 | g.38351486A>T | CA391934370 | SPRED1 | c.1157A>T (p.Asp386Val) c.1193A>T (p.Asp398Val) c.935A>T (p.Asp312Val) c.1094A>T (p.Asp365Val) | |
15 | g.38351487T>A | CA391934373 | SPRED1 | c.1158T>A (p.Asp386Glu) c.1194T>A (p.Asp398Glu) c.936T>A (p.Asp312Glu) c.1095T>A (p.Asp365Glu) | |
15 | g.38351487T>C | CA490012331 | SPRED1 | c.1158T>C (p.Asp386=) c.1194T>C (p.Asp398=) c.936T>C (p.Asp312=) c.1095T>C (p.Asp365=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351487T>G | CA391934372 | SPRED1 | c.1158T>G (p.Asp386Glu) c.1194T>G (p.Asp398Glu) c.936T>G (p.Asp312Glu) c.1095T>G (p.Asp365Glu) | |
15 | g.38351488T>A | CA391934374 | SPRED1 | c.1159T>A (p.Phe387Ile) c.1195T>A (p.Phe399Ile) c.937T>A (p.Phe313Ile) c.1096T>A (p.Phe366Ile) | |
15 | g.38351488T>C | CA391934376 | SPRED1 | c.1159T>C (p.Phe387Leu) c.1195T>C (p.Phe399Leu) c.937T>C (p.Phe313Leu) c.1096T>C (p.Phe366Leu) | |
15 | g.38351488T>G | CA391934375 | SPRED1 | c.1159T>G (p.Phe387Val) c.1195T>G (p.Phe399Val) c.937T>G (p.Phe313Val) c.1096T>G (p.Phe366Val) | |
15 | g.38351489T>A | CA391934377 | SPRED1 | c.1160T>A (p.Phe387Tyr) c.1196T>A (p.Phe399Tyr) c.938T>A (p.Phe313Tyr) c.1097T>A (p.Phe366Tyr) | |
15 | g.38351489T>C | CA391934381 | SPRED1 | c.1160T>C (p.Phe387Ser) c.1196T>C (p.Phe399Ser) c.938T>C (p.Phe313Ser) c.1097T>C (p.Phe366Ser) | |
15 | g.38351489T>G | CA391934378 | SPRED1 | c.1160T>G (p.Phe387Cys) c.1196T>G (p.Phe399Cys) c.938T>G (p.Phe313Cys) c.1097T>G (p.Phe366Cys) | |
15 | g.38351490T>A | CA391934382 | SPRED1 | c.1161T>A (p.Phe387Leu) c.1197T>A (p.Phe399Leu) c.939T>A (p.Phe313Leu) c.1098T>A (p.Phe366Leu) | |
15 | g.38351490T>C | CA490012337 | SPRED1 | c.1161T>C (p.Phe387=) c.1197T>C (p.Phe399=) c.939T>C (p.Phe313=) c.1098T>C (p.Phe366=) | |
15 | g.38351490T>G | CA391934384 | SPRED1 | c.1161T>G (p.Phe387Leu) c.1197T>G (p.Phe399Leu) c.939T>G (p.Phe313Leu) c.1098T>G (p.Phe366Leu) | |
15 | g.38351491T>A | CA391934385 | SPRED1 | c.1162T>A (p.Ser388Thr) c.1198T>A (p.Ser400Thr) c.940T>A (p.Ser314Thr) c.1099T>A (p.Ser367Thr) | |
15 | g.38351491T>C | CA391934386 | SPRED1 | c.1162T>C (p.Ser388Pro) c.1198T>C (p.Ser400Pro) c.940T>C (p.Ser314Pro) c.1099T>C (p.Ser367Pro) | |
15 | g.38351491T>G | CA391934387 | SPRED1 | c.1162T>G (p.Ser388Ala) c.1198T>G (p.Ser400Ala) c.940T>G (p.Ser314Ala) c.1099T>G (p.Ser367Ala) | |
15 | g.38351492C>A | CA391934389 | SPRED1 | c.1163C>A (p.Ser388Tyr) c.1199C>A (p.Ser400Tyr) c.941C>A (p.Ser314Tyr) c.1100C>A (p.Ser367Tyr) | |
15 | g.38351492C= | CA2170812730 | SPRED1 | c.1163C= (p.Ser388=) c.1199C= (p.Ser400=) c.941C= (p.Ser314=) c.1100C= (p.Ser367=) | |
15 | g.38351492C>G | CA391934390 | SPRED1 | c.1163C>G (p.Ser388Cys) c.1199C>G (p.Ser400Cys) c.941C>G (p.Ser314Cys) c.1100C>G (p.Ser367Cys) | |
15 | g.38351492C>T | CA391934391 | SPRED1 | c.1163C>T (p.Ser388Phe) c.1199C>T (p.Ser400Phe) c.941C>T (p.Ser314Phe) c.1100C>T (p.Ser367Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
15 | g.38351493T>A | CA490012345 | SPRED1 | c.1164T>A (p.Ser388=) c.1200T>A (p.Ser400=) c.942T>A (p.Ser314=) c.1101T>A (p.Ser367=) | |
15 | g.38351493T>C | CA490012347 | SPRED1 | c.1164T>C (p.Ser388=) c.1200T>C (p.Ser400=) c.942T>C (p.Ser314=) c.1101T>C (p.Ser367=) | |
15 | g.38351493T>G | CA490012343 | SPRED1 | c.1164T>G (p.Ser388=) c.1200T>G (p.Ser400=) c.942T>G (p.Ser314=) c.1101T>G (p.Ser367=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351493T= | CA2170812731 | SPRED1 | c.1164T= (p.Ser388=) c.1200T= (p.Ser400=) c.942T= (p.Ser314=) c.1101T= (p.Ser367=) | |
15 | g.38351494G>A | CA391934393 | SPRED1 | c.1165G>A (p.Asp389Asn) c.1201G>A (p.Asp401Asn) c.943G>A (p.Asp315Asn) c.1102G>A (p.Asp368Asn) | |
15 | g.38351494G>C | CA269293460 | SPRED1 | c.1165G>C (p.Asp389His) c.1201G>C (p.Asp401His) c.943G>C (p.Asp315His) c.1102G>C (p.Asp368His) | dbSNP gnomAD v4 |
15 | g.38351494G= | CA2170812732 | SPRED1 | c.1165G= (p.Asp389=) c.1201G= (p.Asp401=) c.943G= (p.Asp315=) c.1102G= (p.Asp368=) | |
15 | g.38351494G>T | CA391934395 | SPRED1 | c.1165G>T (p.Asp389Tyr) c.1201G>T (p.Asp401Tyr) c.943G>T (p.Asp315Tyr) c.1102G>T (p.Asp368Tyr) | COSMIC |
15 | g.38351495A>C | CA391934397 | SPRED1 | c.1166A>C (p.Asp389Ala) c.1202A>C (p.Asp401Ala) c.944A>C (p.Asp315Ala) c.1103A>C (p.Asp368Ala) | |
15 | g.38351495A>G | CA391934400 | SPRED1 | c.1166A>G (p.Asp389Gly) c.1202A>G (p.Asp401Gly) c.944A>G (p.Asp315Gly) c.1103A>G (p.Asp368Gly) | |
15 | g.38351495A>T | CA391934399 | SPRED1 | c.1166A>T (p.Asp389Val) c.1202A>T (p.Asp401Val) c.944A>T (p.Asp315Val) c.1103A>T (p.Asp368Val) | |
15 | g.38351496T>A | CA391934402 | SPRED1 | c.1167T>A (p.Asp389Glu) c.1203T>A (p.Asp401Glu) c.945T>A (p.Asp315Glu) c.1104T>A (p.Asp368Glu) | |
15 | g.38351496T>C | CA490012353 | SPRED1 | c.1167T>C (p.Asp389=) c.1203T>C (p.Asp401=) c.945T>C (p.Asp315=) c.1104T>C (p.Asp368=) | |
15 | g.38351496T>G | CA391934403 | SPRED1 | c.1167T>G (p.Asp389Glu) c.1203T>G (p.Asp401Glu) c.945T>G (p.Asp315Glu) c.1104T>G (p.Asp368Glu) | |
15 | g.38351497C>A | CA391934404 | SPRED1 | c.1168C>A (p.Pro390Thr) c.1204C>A (p.Pro402Thr) c.946C>A (p.Pro316Thr) c.1105C>A (p.Pro369Thr) | |
15 | g.38351497C>G | CA391934406 | SPRED1 | c.1168C>G (p.Pro390Ala) c.1204C>G (p.Pro402Ala) c.946C>G (p.Pro316Ala) c.1105C>G (p.Pro369Ala) | |
15 | g.38351497C>T | CA391934408 | SPRED1 | c.1168C>T (p.Pro390Ser) c.1204C>T (p.Pro402Ser) c.946C>T (p.Pro316Ser) c.1105C>T (p.Pro369Ser) | |
15 | g.38351499del | CA2627716213 | SPRED1 | c.1170del (p.Cys391ValfsTer15) c.1206del (p.Cys403ValfsTer15) c.948del (p.Cys317ValfsTer15) c.1107del (p.Cys370ValfsTer15) | gnomAD v4 |
15 | g.38351498C>A | CA391934410 | SPRED1 | c.1169C>A (p.Pro390His) c.1205C>A (p.Pro402His) c.947C>A (p.Pro316His) c.1106C>A (p.Pro369His) | |
15 | g.38351498C>G | CA391934411 | SPRED1 | c.1169C>G (p.Pro390Arg) c.1205C>G (p.Pro402Arg) c.947C>G (p.Pro316Arg) c.1106C>G (p.Pro369Arg) | |
15 | g.38351498C>T | CA391934413 | SPRED1 | c.1169C>T (p.Pro390Leu) c.1205C>T (p.Pro402Leu) c.947C>T (p.Pro316Leu) c.1106C>T (p.Pro369Leu) | |
15 | g.38351499C>A | CA490012498 | SPRED1 | c.1170C>A (p.Pro390=) c.1206C>A (p.Pro402=) c.948C>A (p.Pro316=) c.1107C>A (p.Pro369=) | |
15 | g.38351499C= | CA2170812733 | SPRED1 | c.1170C= (p.Pro390=) c.1206C= (p.Pro402=) c.948C= (p.Pro316=) c.1107C= (p.Pro369=) | |
15 | g.38351499C>G | CA490012499 | SPRED1 | c.1170C>G (p.Pro390=) c.1206C>G (p.Pro402=) c.948C>G (p.Pro316=) c.1107C>G (p.Pro369=) | ClinVar dbSNP |
15 | g.38351499C>T | CA7470236 | SPRED1 | c.1170C>T (p.Pro390=) c.1206C>T (p.Pro402=) c.948C>T (p.Pro316=) c.1107C>T (p.Pro369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351500T>A | CA391934417 | SPRED1 | c.1171T>A (p.Cys391Ser) c.1207T>A (p.Cys403Ser) c.949T>A (p.Cys317Ser) c.1108T>A (p.Cys370Ser) | |
15 | g.38351500T>C | CA391934418 | SPRED1 | c.1171T>C (p.Cys391Arg) c.1207T>C (p.Cys403Arg) c.949T>C (p.Cys317Arg) c.1108T>C (p.Cys370Arg) | |
15 | g.38351500T>G | CA391934416 | SPRED1 | c.1171T>G (p.Cys391Gly) c.1207T>G (p.Cys403Gly) c.949T>G (p.Cys317Gly) c.1108T>G (p.Cys370Gly) | |
15 | g.38351501G>A | CA391934420 | SPRED1 | c.1172G>A (p.Cys391Tyr) c.1208G>A (p.Cys403Tyr) c.950G>A (p.Cys317Tyr) c.1109G>A (p.Cys370Tyr) | |
15 | g.38351501G>C | CA391934421 | SPRED1 | c.1172G>C (p.Cys391Ser) c.1208G>C (p.Cys403Ser) c.950G>C (p.Cys317Ser) c.1109G>C (p.Cys370Ser) | ClinVar |
15 | g.38351501G>T | CA391934422 | SPRED1 | c.1172G>T (p.Cys391Phe) c.1208G>T (p.Cys403Phe) c.950G>T (p.Cys317Phe) c.1109G>T (p.Cys370Phe) | |
15 | g.38351502T>A | CA391934424 | SPRED1 | c.1173T>A (p.Cys391Ter) c.1209T>A (p.Cys403Ter) c.951T>A (p.Cys317Ter) c.1110T>A (p.Cys370Ter) | |
15 | g.38351502T>C | CA490012500 | SPRED1 | c.1173T>C (p.Cys391=) c.1209T>C (p.Cys403=) c.951T>C (p.Cys317=) c.1110T>C (p.Cys370=) | |
15 | g.38351502T>G | CA391934426 | SPRED1 | c.1173T>G (p.Cys391Trp) c.1209T>G (p.Cys403Trp) c.951T>G (p.Cys317Trp) c.1110T>G (p.Cys370Trp) | |
15 | g.38351503T>A | CA391934427 | SPRED1 | c.1174T>A (p.Ser392Thr) c.1210T>A (p.Ser404Thr) c.952T>A (p.Ser318Thr) c.1111T>A (p.Ser371Thr) | |
15 | g.38351503T>C | CA391934429 | SPRED1 | c.1174T>C (p.Ser392Pro) c.1210T>C (p.Ser404Pro) c.952T>C (p.Ser318Pro) c.1111T>C (p.Ser371Pro) | |
15 | g.38351503T>G | CA391934431 | SPRED1 | c.1174T>G (p.Ser392Ala) c.1210T>G (p.Ser404Ala) c.952T>G (p.Ser318Ala) c.1111T>G (p.Ser371Ala) | |
15 | g.38351504C>A | CA391934432 | SPRED1 | c.1175C>A (p.Ser392Ter) c.1211C>A (p.Ser404Ter) c.953C>A (p.Ser318Ter) c.1112C>A (p.Ser371Ter) | ClinVar dbSNP |
15 | g.38351504C= | CA2170812734 | SPRED1 | c.1175C= (p.Ser392=) c.1211C= (p.Ser404=) c.953C= (p.Ser318=) c.1112C= (p.Ser371=) | |
15 | g.38351504C>G | CA391934433 | SPRED1 | c.1175C>G (p.Ser392Trp) c.1211C>G (p.Ser404Trp) c.953C>G (p.Ser318Trp) c.1112C>G (p.Ser371Trp) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351504C>T | CA391934435 | SPRED1 | c.1175C>T (p.Ser392Leu) c.1211C>T (p.Ser404Leu) c.953C>T (p.Ser318Leu) c.1112C>T (p.Ser371Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.38351505G>A | CA7470237 | SPRED1 | c.1176G>A (p.Ser392=) c.1212G>A (p.Ser404=) c.954G>A (p.Ser318=) c.1113G>A (p.Ser371=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351505G>C | CA490012504 | SPRED1 | c.1176G>C (p.Ser392=) c.1212G>C (p.Ser404=) c.954G>C (p.Ser318=) c.1113G>C (p.Ser371=) | gnomAD v4 |
15 | g.38351505G= | CA2170812735 | SPRED1 | c.1176G= (p.Ser392=) c.1212G= (p.Ser404=) c.954G= (p.Ser318=) c.1113G= (p.Ser371=) | |
15 | g.38351505G>T | CA490012505 | SPRED1 | c.1176G>T (p.Ser392=) c.1212G>T (p.Ser404=) c.954G>T (p.Ser318=) c.1113G>T (p.Ser371=) | |
15 | g.38351506T>A | CA391934440 | SPRED1 | c.1177T>A (p.Cys393Ser) c.1213T>A (p.Cys405Ser) c.955T>A (p.Cys319Ser) c.1114T>A (p.Cys372Ser) | |
15 | g.38351506T>C | CA391934438 | SPRED1 | c.1177T>C (p.Cys393Arg) c.1213T>C (p.Cys405Arg) c.955T>C (p.Cys319Arg) c.1114T>C (p.Cys372Arg) | |
15 | g.38351506T>G | CA391934439 | SPRED1 | c.1177T>G (p.Cys393Gly) c.1213T>G (p.Cys405Gly) c.955T>G (p.Cys319Gly) c.1114T>G (p.Cys372Gly) | |
15 | g.38351507G>A | CA391934442 | SPRED1 | c.1178G>A (p.Cys393Tyr) c.1214G>A (p.Cys405Tyr) c.956G>A (p.Cys319Tyr) c.1115G>A (p.Cys372Tyr) | |
15 | g.38351507G>C | CA391934444 | SPRED1 | c.1178G>C (p.Cys393Ser) c.1214G>C (p.Cys405Ser) c.956G>C (p.Cys319Ser) c.1115G>C (p.Cys372Ser) | |
15 | g.38351507G= | CA2170812736 | SPRED1 | c.1178G= (p.Cys393=) c.1214G= (p.Cys405=) c.956G= (p.Cys319=) c.1115G= (p.Cys372=) | |
15 | g.38351507G>T | CA391934445 | SPRED1 | c.1178G>T (p.Cys393Phe) c.1214G>T (p.Cys405Phe) c.956G>T (p.Cys319Phe) c.1115G>T (p.Cys372Phe) | dbSNP gnomAD v2 |
15 | g.38351508T>A | CA391934446 | SPRED1 | c.1179T>A (p.Cys393Ter) c.1215T>A (p.Cys405Ter) c.957T>A (p.Cys319Ter) c.1116T>A (p.Cys372Ter) | |
15 | g.38351508T>C | CA490012509 | SPRED1 | c.1179T>C (p.Cys393=) c.1215T>C (p.Cys405=) c.957T>C (p.Cys319=) c.1116T>C (p.Cys372=) | |
15 | g.38351508T>G | CA391934447 | SPRED1 | c.1179T>G (p.Cys393Trp) c.1215T>G (p.Cys405Trp) c.957T>G (p.Cys319Trp) c.1116T>G (p.Cys372Trp) | |
15 | g.38351509G>A | CA391934450 | SPRED1 | c.1180G>A (p.Asp394Asn) c.1216G>A (p.Asp406Asn) c.958G>A (p.Asp320Asn) c.1117G>A (p.Asp373Asn) | |
15 | g.38351509G>C | CA391934451 | SPRED1 | c.1180G>C (p.Asp394His) c.1216G>C (p.Asp406His) c.958G>C (p.Asp320His) c.1117G>C (p.Asp373His) | |
15 | g.38351509G= | CA2170812737 | SPRED1 | c.1180G= (p.Asp394=) c.1216G= (p.Asp406=) c.958G= (p.Asp320=) c.1117G= (p.Asp373=) | |
15 | g.38351509G>T | CA269293461 | SPRED1 | c.1180G>T (p.Asp394Tyr) c.1216G>T (p.Asp406Tyr) c.958G>T (p.Asp320Tyr) c.1117G>T (p.Asp373Tyr) | dbSNP |
15 | g.38351510A= | CA2170812738 | SPRED1 | c.1181A= (p.Asp394=) c.1217A= (p.Asp406=) c.959A= (p.Asp320=) c.1118A= (p.Asp373=) | |
15 | g.38351510A>C | CA391934454 | SPRED1 | c.1181A>C (p.Asp394Ala) c.1217A>C (p.Asp406Ala) c.959A>C (p.Asp320Ala) c.1118A>C (p.Asp373Ala) | |
15 | g.38351510A>G | CA391934456 | SPRED1 | c.1181A>G (p.Asp394Gly) c.1217A>G (p.Asp406Gly) c.959A>G (p.Asp320Gly) c.1118A>G (p.Asp373Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351510A>T | CA391934457 | SPRED1 | c.1181A>T (p.Asp394Val) c.1217A>T (p.Asp406Val) c.959A>T (p.Asp320Val) c.1118A>T (p.Asp373Val) | |
15 | g.38351511C>A | CA391934459 | SPRED1 | c.1182C>A (p.Asp394Glu) c.1218C>A (p.Asp406Glu) c.960C>A (p.Asp320Glu) c.1119C>A (p.Asp373Glu) | |
15 | g.38351511C>G | CA391934461 | SPRED1 | c.1182C>G (p.Asp394Glu) c.1218C>G (p.Asp406Glu) c.960C>G (p.Asp320Glu) c.1119C>G (p.Asp373Glu) | |
15 | g.38351511C>T | CA490012511 | SPRED1 | c.1182C>T (p.Asp394=) c.1218C>T (p.Asp406=) c.960C>T (p.Asp320=) c.1119C>T (p.Asp373=) | |
15 | g.38351512A>C | CA391934464 | SPRED1 | c.1183A>C (p.Thr395Pro) c.1219A>C (p.Thr407Pro) c.961A>C (p.Thr321Pro) c.1120A>C (p.Thr374Pro) | gnomAD v4 |
15 | g.38351512A>G | CA391934465 | SPRED1 | c.1183A>G (p.Thr395Ala) c.1219A>G (p.Thr407Ala) c.961A>G (p.Thr321Ala) c.1120A>G (p.Thr374Ala) | |
15 | g.38351512A>T | CA391934463 | SPRED1 | c.1183A>T (p.Thr395Ser) c.1219A>T (p.Thr407Ser) c.961A>T (p.Thr321Ser) c.1120A>T (p.Thr374Ser) | |
15 | g.38351513C>A | CA391934467 | SPRED1 | c.1184C>A (p.Thr395Asn) c.1220C>A (p.Thr407Asn) c.962C>A (p.Thr321Asn) c.1121C>A (p.Thr374Asn) | |
15 | g.38351513C= | CA2170812739 | SPRED1 | c.1184C= (p.Thr395=) c.1220C= (p.Thr407=) c.962C= (p.Thr321=) c.1121C= (p.Thr374=) | |
15 | g.38351513C>G | CA269293462 | SPRED1 | c.1184C>G (p.Thr395Ser) c.1220C>G (p.Thr407Ser) c.962C>G (p.Thr321Ser) c.1121C>G (p.Thr374Ser) | dbSNP gnomAD v4 |
15 | g.38351513C>T | CA391934470 | SPRED1 | c.1184C>T (p.Thr395Ile) c.1220C>T (p.Thr407Ile) c.962C>T (p.Thr321Ile) c.1121C>T (p.Thr374Ile) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351514T>A | CA490012517 | SPRED1 | c.1185T>A (p.Thr395=) c.1221T>A (p.Thr407=) c.963T>A (p.Thr321=) c.1122T>A (p.Thr374=) | |
15 | g.38351514T>C | CA490012516 | SPRED1 | c.1185T>C (p.Thr395=) c.1221T>C (p.Thr407=) c.963T>C (p.Thr321=) c.1122T>C (p.Thr374=) | ClinVar gnomAD v4 |
15 | g.38351514T>G | CA490012515 | SPRED1 | c.1185T>G (p.Thr395=) c.1221T>G (p.Thr407=) c.963T>G (p.Thr321=) c.1122T>G (p.Thr374=) | ClinVar dbSNP |
15 | g.38351514T= | CA2170812740 | SPRED1 | c.1185T= (p.Thr395=) c.1221T= (p.Thr407=) c.963T= (p.Thr321=) c.1122T= (p.Thr374=) | |
15 | g.38351515A= | CA2170812741 | SPRED1 | c.1186A= (p.Ser396=) c.1222A= (p.Ser408=) c.964A= (p.Ser322=) c.1123A= (p.Ser375=) | |
15 | g.38351515A>C | CA391934471 | SPRED1 | c.1186A>C (p.Ser396Arg) c.1222A>C (p.Ser408Arg) c.964A>C (p.Ser322Arg) c.1123A>C (p.Ser375Arg) | |
15 | g.38351515A>G | CA7470238 | SPRED1 | c.1186A>G (p.Ser396Gly) c.1222A>G (p.Ser408Gly) c.964A>G (p.Ser322Gly) c.1123A>G (p.Ser375Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351515A>T | CA391934473 | SPRED1 | c.1186A>T (p.Ser396Cys) c.1222A>T (p.Ser408Cys) c.964A>T (p.Ser322Cys) c.1123A>T (p.Ser375Cys) | |
15 | g.38351516G>A | CA391934477 | SPRED1 | c.1187G>A (p.Ser396Asn) c.1223G>A (p.Ser408Asn) c.965G>A (p.Ser322Asn) c.1124G>A (p.Ser375Asn) | |
15 | g.38351516G>C | CA391934474 | SPRED1 | c.1187G>C (p.Ser396Thr) c.1223G>C (p.Ser408Thr) c.965G>C (p.Ser322Thr) c.1124G>C (p.Ser375Thr) | |
15 | g.38351516G>T | CA391934475 | SPRED1 | c.1187G>T (p.Ser396Ile) c.1223G>T (p.Ser408Ile) c.965G>T (p.Ser322Ile) c.1124G>T (p.Ser375Ile) | |
15 | g.38351516_38351519delinsGCGA | CA2170812742 | SPRED1 | c.1187_1190delinsGCGA (p.Ser396=) c.1223_1226delinsGCGA (p.Ser408=) c.965_968delinsGCGA (p.Ser322=) c.1124_1127delinsGCGA (p.Ser375=) | |
15 | g.38351517C>A | CA391934478 | SPRED1 | c.1188C>A (p.Ser396Arg) c.1224C>A (p.Ser408Arg) c.966C>A (p.Ser322Arg) c.1125C>A (p.Ser375Arg) | |
15 | g.38351517C= | CA2170812743 | SPRED1 | c.1188C= (p.Ser396=) c.1224C= (p.Ser408=) c.966C= (p.Ser322=) c.1125C= (p.Ser375=) | |
15 | g.38351517C>G | CA391934480 | SPRED1 | c.1188C>G (p.Ser396Arg) c.1224C>G (p.Ser408Arg) c.966C>G (p.Ser322Arg) c.1125C>G (p.Ser375Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351517C>T | CA7470239 | SPRED1 | c.1188C>T (p.Ser396=) c.1224C>T (p.Ser408=) c.966C>T (p.Ser322=) c.1125C>T (p.Ser375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.38351521_38351523del | CA645591365 | SPRED1 | c.1192_1194del (p.Asp398del) c.1228_1230del (p.Asp410del) c.970_972del (p.Asp324del) c.1129_1131del (p.Asp377del) | dbSNP gnomAD v4 COSMIC |
15 | g.38351518G>A | CA391934482 | SPRED1 | c.1189G>A (p.Asp397Asn) c.1225G>A (p.Asp409Asn) c.967G>A (p.Asp323Asn) c.1126G>A (p.Asp376Asn) | ClinVar dbSNP gnomAD v4 |
15 | g.38351518G>C | CA391934483 | SPRED1 | c.1189G>C (p.Asp397His) c.1225G>C (p.Asp409His) c.967G>C (p.Asp323His) c.1126G>C (p.Asp376His) | |
15 | g.38351518G= | CA2170812744 | SPRED1 | c.1189G= (p.Asp397=) c.1225G= (p.Asp409=) c.967G= (p.Asp323=) c.1126G= (p.Asp376=) | |
15 | g.38351518G>T | CA391934486 | SPRED1 | c.1189G>T (p.Asp397Tyr) c.1225G>T (p.Asp409Tyr) c.967G>T (p.Asp323Tyr) c.1126G>T (p.Asp376Tyr) | |
15 | g.38351519A>C | CA391934487 | SPRED1 | c.1190A>C (p.Asp397Ala) c.1226A>C (p.Asp409Ala) c.968A>C (p.Asp323Ala) c.1127A>C (p.Asp376Ala) | |
15 | g.38351519A>G | CA391934489 | SPRED1 | c.1190A>G (p.Asp397Gly) c.1226A>G (p.Asp409Gly) c.968A>G (p.Asp323Gly) c.1127A>G (p.Asp376Gly) | ClinVar |
15 | g.38351519A>T | CA391934488 | SPRED1 | c.1190A>T (p.Asp397Val) c.1226A>T (p.Asp409Val) c.968A>T (p.Asp323Val) c.1127A>T (p.Asp376Val) | gnomAD v4 |
15 | g.38351520C>A | CA391934490 | SPRED1 | c.1191C>A (p.Asp397Glu) c.1227C>A (p.Asp409Glu) c.969C>A (p.Asp323Glu) c.1128C>A (p.Asp376Glu) | |
15 | g.38351520C= | CA2170812745 | SPRED1 | c.1191C= (p.Asp397=) c.1227C= (p.Asp409=) c.969C= (p.Asp323=) c.1128C= (p.Asp376=) | |
15 | g.38351520C>G | CA391934491 | SPRED1 | c.1191C>G (p.Asp397Glu) c.1227C>G (p.Asp409Glu) c.969C>G (p.Asp323Glu) c.1128C>G (p.Asp376Glu) | |
15 | g.38351520C>T | CA7470240 | SPRED1 | c.1191C>T (p.Asp397=) c.1227C>T (p.Asp409=) c.969C>T (p.Asp323=) c.1128C>T (p.Asp376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351521G>A | CA7470241 | SPRED1 | c.1192G>A (p.Asp398Asn) c.1228G>A (p.Asp410Asn) c.970G>A (p.Asp324Asn) c.1129G>A (p.Asp377Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351521G>C | CA391934494 | SPRED1 | c.1192G>C (p.Asp398His) c.1228G>C (p.Asp410His) c.970G>C (p.Asp324His) c.1129G>C (p.Asp377His) | |
15 | g.38351521G= | CA2170812746 | SPRED1 | c.1192G= (p.Asp398=) c.1228G= (p.Asp410=) c.970G= (p.Asp324=) c.1129G= (p.Asp377=) | |
15 | g.38351521G>T | CA391934495 | SPRED1 | c.1192G>T (p.Asp398Tyr) c.1228G>T (p.Asp410Tyr) c.970G>T (p.Asp324Tyr) c.1129G>T (p.Asp377Tyr) | ClinVar |
15 | g.38351522A= | CA2170812748 | SPRED1 | c.1193A= (p.Asp398=) c.1229A= (p.Asp410=) c.971A= (p.Asp324=) c.1130A= (p.Asp377=) | |
15 | g.38351522A>C | CA391934498 | SPRED1 | c.1193A>C (p.Asp398Ala) c.1229A>C (p.Asp410Ala) c.971A>C (p.Asp324Ala) c.1130A>C (p.Asp377Ala) | |
15 | g.38351522A>G | CA391934499 | SPRED1 | c.1193A>G (p.Asp398Gly) c.1229A>G (p.Asp410Gly) c.971A>G (p.Asp324Gly) c.1130A>G (p.Asp377Gly) | |
15 | g.38351522A>T | CA391934500 | SPRED1 | c.1193A>T (p.Asp398Val) c.1229A>T (p.Asp410Val) c.971A>T (p.Asp324Val) c.1130A>T (p.Asp377Val) | |
15 | g.38351522_38351523delinsAC | CA2170812747 | SPRED1 | c.1193_1194delinsAC (p.Asp398=) c.1229_1230delinsAC (p.Asp410=) c.971_972delinsAC (p.Asp324=) c.1130_1131delinsAC (p.Asp377=) |