Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26484543A>CCA346137802OTOFc.1136T>G (p.Val379Gly)
c.1181T>G (p.Val394Gly)
2g.26484543A>GCA346137803OTOFc.1136T>C (p.Val379Ala)
c.1181T>C (p.Val394Ala)
2g.26484543A>TCA346137804OTOFc.1136T>A (p.Val379Glu)
c.1181T>A (p.Val394Glu)
2g.26484544C>ACA346137805OTOFc.1135G>T (p.Val379Leu)
c.1180G>T (p.Val394Leu)
2g.26484544C=CA1239831330OTOFc.1135G= (p.Val379=)
c.1180G= (p.Val394=)
2g.26484544C>GCA346137806OTOFc.1135G>C (p.Val379Leu)
c.1180G>C (p.Val394Leu)
2g.26484544C>TCA1564371OTOFc.1135G>A (p.Val379Met)
c.1180G>A (p.Val394Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26484545G>ACA1564372OTOFc.1134C>T (p.Ala378=)
c.1179C>T (p.Ala393=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26484545G>CCA425207379OTOFc.1134C>G (p.Ala378=)
c.1179C>G (p.Ala393=)
2g.26484545G=CA1239831334OTOFc.1134C= (p.Ala378=)
c.1179C= (p.Ala393=)
2g.26484545G>TCA425207380OTOFc.1134C>A (p.Ala378=)
c.1179C>A (p.Ala393=)
2g.26484546G>ACA346137809OTOFc.1133C>T (p.Ala378Val)
c.1178C>T (p.Ala393Val)
2g.26484546G>CCA346137808OTOFc.1133C>G (p.Ala378Gly)
c.1178C>G (p.Ala393Gly)
2g.26484546G>TCA346137807OTOFc.1133C>A (p.Ala378Asp)
c.1178C>A (p.Ala393Asp)
2g.26484547C>ACA346137810OTOFc.1132G>T (p.Ala378Ser)
c.1177G>T (p.Ala393Ser)
2g.26484547C>GCA346137811OTOFc.1132G>C (p.Ala378Pro)
c.1177G>C (p.Ala393Pro)
2g.26484547C>TCA346137812OTOFc.1132G>A (p.Ala378Thr)
c.1177G>A (p.Ala393Thr)
2g.26484548A>CCA425207384OTOFc.1131T>G (p.Val377=)
c.1176T>G (p.Val392=)
2g.26484548A>GCA425207385OTOFc.1131T>C (p.Val377=)
c.1176T>C (p.Val392=)
2g.26484548A>TCA425207386OTOFc.1131T>A (p.Val377=)
c.1176T>A (p.Val392=)
2g.26484549A>CCA346137813OTOFc.1130T>G (p.Val377Gly)
c.1175T>G (p.Val392Gly)
2g.26484549A>GCA346137814OTOFc.1130T>C (p.Val377Ala)
c.1175T>C (p.Val392Ala)
2g.26484549A>TCA346137815OTOFc.1130T>A (p.Val377Asp)
c.1175T>A (p.Val392Asp)
2g.26484550C>ACA346137816OTOFc.1129G>T (p.Val377Phe)
c.1174G>T (p.Val392Phe)
2g.26484550C=CA1239831337OTOFc.1129G= (p.Val377=)
c.1174G= (p.Val392=)
2g.26484550C>GCA346137817OTOFc.1129G>C (p.Val377Leu)
c.1174G>C (p.Val392Leu)
2g.26484550C>TCA1564373OTOFc.1129G>A (p.Val377Ile)
c.1174G>A (p.Val392Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26484551G>ACA1564374OTOFc.1128C>T (p.Asp376=)
c.1173C>T (p.Asp391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484551G>CCA346137818OTOFc.1128C>G (p.Asp376Glu)
c.1173C>G (p.Asp391Glu)
2g.26484551G=CA1239831338OTOFc.1128C= (p.Asp376=)
c.1173C= (p.Asp391=)
2g.26484551G>TCA346137819OTOFc.1128C>A (p.Asp376Glu)
c.1173C>A (p.Asp391Glu)
 dbSNP
2g.26484552T>ACA346137821OTOFc.1127A>T (p.Asp376Val)
c.1172A>T (p.Asp391Val)
2g.26484552T>CCA346137822OTOFc.1127A>G (p.Asp376Gly)
c.1172A>G (p.Asp391Gly)
2g.26484552T>GCA346137820OTOFc.1127A>C (p.Asp376Ala)
c.1172A>C (p.Asp391Ala)
2g.26484553C>ACA346137823OTOFc.1126G>T (p.Asp376Tyr)
c.1171G>T (p.Asp391Tyr)
2g.26484553C=CA1239831340OTOFc.1126G= (p.Asp376=)
c.1171G= (p.Asp391=)
2g.26484553C>GCA346137824OTOFc.1126G>C (p.Asp376His)
c.1171G>C (p.Asp391His)
2g.26484553C>TCA1564375OTOFc.1126G>A (p.Asp376Asn)
c.1171G>A (p.Asp391Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484554A>CCA346137825OTOFc.1125T>G (p.Cys375Trp)
c.1170T>G (p.Cys390Trp)
2g.26484554A>GCA425207392OTOFc.1125T>C (p.Cys375=)
c.1170T>C (p.Cys390=)
2g.26484554A>TCA346137826OTOFc.1125T>A (p.Cys375Ter)
c.1170T>A (p.Cys390Ter)
2g.26484555C>ACA346137829OTOFc.1124G>T (p.Cys375Phe)
c.1169G>T (p.Cys390Phe)
2g.26484555C>GCA346137827OTOFc.1124G>C (p.Cys375Ser)
c.1169G>C (p.Cys390Ser)
2g.26484555C>TCA346137828OTOFc.1124G>A (p.Cys375Tyr)
c.1169G>A (p.Cys390Tyr)
2g.26484556A>CCA346137830OTOFc.1123T>G (p.Cys375Gly)
c.1168T>G (p.Cys390Gly)
 gnomAD v4
2g.26484556A>GCA346137831OTOFc.1123T>C (p.Cys375Arg)
c.1168T>C (p.Cys390Arg)
2g.26484556A>TCA346137832OTOFc.1123T>A (p.Cys375Ser)
c.1168T>A (p.Cys390Ser)
2g.26484557C>ACA346137833OTOFc.1122G>T (p.Lys374Asn)
c.1167G>T (p.Lys389Asn)
2g.26484557C>GCA346137834OTOFc.1122G>C (p.Lys374Asn)
c.1167G>C (p.Lys389Asn)
2g.26484557C>TCA425207396OTOFc.1122G>A (p.Lys374=)
c.1167G>A (p.Lys389=)
2g.26484558T>ACA346137837OTOFc.1121A>T (p.Lys374Met)
c.1166A>T (p.Lys389Met)
2g.26484558T>CCA346137836OTOFc.1121A>G (p.Lys374Arg)
c.1166A>G (p.Lys389Arg)
2g.26484558T>GCA346137835OTOFc.1121A>C (p.Lys374Thr)
c.1166A>C (p.Lys389Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26484558T=CA1239831342OTOFc.1121A= (p.Lys374=)
c.1166A= (p.Lys389=)
2g.26484559T>ACA346137838OTOFc.1120A>T (p.Lys374Ter)
c.1165A>T (p.Lys389Ter)
2g.26484559T>CCA346137840OTOFc.1120A>G (p.Lys374Glu)
c.1165A>G (p.Lys389Glu)
2g.26484559T>GCA346137839OTOFc.1120A>C (p.Lys374Gln)
c.1165A>C (p.Lys389Gln)
2g.26484560C>ACA425207400OTOFc.1119G>T (p.Val373=)
c.1164G>T (p.Val388=)
2g.26484560C>GCA425207402OTOFc.1119G>C (p.Val373=)
c.1164G>C (p.Val388=)
2g.26484560C>TCA425207405OTOFc.1119G>A (p.Val373=)
c.1164G>A (p.Val388=)
2g.26484561A>CCA346137841OTOFc.1118T>G (p.Val373Gly)
c.1163T>G (p.Val388Gly)
2g.26484561A>GCA346137842OTOFc.1118T>C (p.Val373Ala)
c.1163T>C (p.Val388Ala)
 gnomAD v4
2g.26484561A>TCA346137843OTOFc.1118T>A (p.Val373Glu)
c.1163T>A (p.Val388Glu)
2g.26484562C>ACA346137844OTOFc.1117G>T (p.Val373Leu)
c.1162G>T (p.Val388Leu)
 COSMIC
2g.26484562C=CA1239831349OTOFc.1117G= (p.Val373=)
c.1162G= (p.Val388=)
2g.26484562C>GCA346137845OTOFc.1117G>C (p.Val373Leu)
c.1162G>C (p.Val388Leu)
2g.26484562C>TCA1564376OTOFc.1117G>A (p.Val373Met)
c.1162G>A (p.Val388Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484563G>ACA142730OTOFc.1116C>T (p.Tyr372=)
c.1161C>T (p.Tyr387=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484563G>CCA346137846OTOFc.1116C>G (p.Tyr372Ter)
c.1161C>G (p.Tyr387Ter)
2g.26484563G=CA1239831361OTOFc.1116C= (p.Tyr372=)
c.1161C= (p.Tyr387=)
2g.26484563G>TCA346137847OTOFc.1116C>A (p.Tyr372Ter)
c.1161C>A (p.Tyr387Ter)
2g.26484564T>ACA346137848OTOFc.1115A>T (p.Tyr372Phe)
c.1160A>T (p.Tyr387Phe)
2g.26484564T>CCA346137849OTOFc.1115A>G (p.Tyr372Cys)
c.1160A>G (p.Tyr387Cys)
2g.26484564T>GCA346137850OTOFc.1115A>C (p.Tyr372Ser)
c.1160A>C (p.Tyr387Ser)
2g.26484565A=CA1239831367OTOFc.1114T= (p.Tyr372=)
c.1159T= (p.Tyr387=)
2g.26484565A>CCA346137852OTOFc.1114T>G (p.Tyr372Asp)
c.1159T>G (p.Tyr387Asp)
2g.26484565A>GCA1564377OTOFc.1114T>C (p.Tyr372His)
c.1159T>C (p.Tyr387His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484565A>TCA346137851OTOFc.1114T>A (p.Tyr372Asn)
c.1159T>A (p.Tyr387Asn)
2g.26484566G>ACA425207411OTOFc.1113C>T (p.Gly371=)
c.1158C>T (p.Gly386=)
 gnomAD v4
2g.26484566G>CCA425207412OTOFc.1113C>G (p.Gly371=)
c.1158C>G (p.Gly386=)
2g.26484566G>TCA425207413OTOFc.1113C>A (p.Gly371=)
c.1158C>A (p.Gly386=)
2g.26484567C>ACA346137853OTOFc.1112G>T (p.Gly371Val)
c.1157G>T (p.Gly386Val)
2g.26484567C>GCA346137854OTOFc.1112G>C (p.Gly371Ala)
c.1157G>C (p.Gly386Ala)
2g.26484567C>TCA346137855OTOFc.1112G>A (p.Gly371Asp)
c.1157G>A (p.Gly386Asp)
2g.26484568C>ACA346137856OTOFc.1111G>T (p.Gly371Cys)
c.1156G>T (p.Gly386Cys)
2g.26484568C=CA1239831372OTOFc.1111G= (p.Gly371=)
c.1156G= (p.Gly386=)
2g.26484568C>GCA10585888OTOFc.1111G>C (p.Gly371Arg)
c.1156G>C (p.Gly386Arg)
 ClinVar dbSNP gnomAD v4
2g.26484568C>TCA346137857OTOFc.1111G>A (p.Gly371Ser)
c.1156G>A (p.Gly386Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26484569C>ACA346137858OTOFc.1110G>T (p.Lys370Asn)
c.1155G>T (p.Lys385Asn)
2g.26484569C>GCA346137859OTOFc.1110G>C (p.Lys370Asn)
c.1155G>C (p.Lys385Asn)
2g.26484569C>TCA425207418OTOFc.1110G>A (p.Lys370=)
c.1155G>A (p.Lys385=)
2g.26484570T>ACA346137860OTOFc.1109A>T (p.Lys370Met)
c.1154A>T (p.Lys385Met)
2g.26484570T>CCA346137861OTOFc.1109A>G (p.Lys370Arg)
c.1154A>G (p.Lys385Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26484570T>GCA346137862OTOFc.1109A>C (p.Lys370Thr)
c.1154A>C (p.Lys385Thr)
 gnomAD v4
2g.26484570T=CA1239831379OTOFc.1109A= (p.Lys370=)
c.1154A= (p.Lys385=)
2g.26484571T>ACA346137864OTOFc.1108A>T (p.Lys370Ter)
c.1153A>T (p.Lys385Ter)
2g.26484571T>CCA346137865OTOFc.1108A>G (p.Lys370Glu)
c.1153A>G (p.Lys385Glu)
 gnomAD v4
2g.26484571T>GCA346137863OTOFc.1108A>C (p.Lys370Gln)
c.1153A>C (p.Lys385Gln)
 dbSNP
2g.26484571T=CA1239831384OTOFc.1108A= (p.Lys370=)
c.1153A= (p.Lys385=)
2g.26484572C>ACA425207425OTOFc.1107G>T (p.Leu369=)
c.1152G>T (p.Leu384=)
2g.26484572C>GCA425207426OTOFc.1107G>C (p.Leu369=)
c.1152G>C (p.Leu384=)
2g.26484572C>TCA425207427OTOFc.1107G>A (p.Leu369=)
c.1152G>A (p.Leu384=)
2g.26484573A>CCA346137866OTOFc.1106T>G (p.Leu369Arg)
c.1151T>G (p.Leu384Arg)
2g.26484573A>GCA346137867OTOFc.1106T>C (p.Leu369Pro)
c.1151T>C (p.Leu384Pro)
2g.26484573A>TCA346137868OTOFc.1106T>A (p.Leu369Gln)
c.1151T>A (p.Leu384Gln)
2g.26484574G>ACA425207431OTOFc.1105C>T (p.Leu369=)
c.1150C>T (p.Leu384=)
2g.26484574G>CCA346137869OTOFc.1105C>G (p.Leu369Val)
c.1150C>G (p.Leu384Val)
2g.26484574G=CA1239831392OTOFc.1105C= (p.Leu369=)
c.1150C= (p.Leu384=)
2g.26484574G>TCA44403124OTOFc.1105C>A (p.Leu369Met)
c.1150C>A (p.Leu384Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26484574_26484576delinsGCCCA1239831389OTOFc.1103_1105delinsGGC (p.Gly368=)
c.1148_1150delinsGGC (p.Gly383=)
2g.26484575C>ACA425207433OTOFc.1104G>T (p.Gly368=)
c.1149G>T (p.Gly383=)
 gnomAD v4
2g.26484575C>GCA425207434OTOFc.1104G>C (p.Gly368=)
c.1149G>C (p.Gly383=)
2g.26484575C>TCA425207435OTOFc.1104G>A (p.Gly368=)
c.1149G>A (p.Gly383=)
2g.26484575_26484576delinsGCA345084OTOFc.1103_1104delinsC (p.Gly368AlafsTer2)
c.1148_1149delinsC (p.Gly383AlafsTer2)
 ClinVar dbSNP
2g.26484576C>ACA346137870OTOFc.1103G>T (p.Gly368Val)
c.1148G>T (p.Gly383Val)
2g.26484576C>GCA346137871OTOFc.1103G>C (p.Gly368Ala)
c.1148G>C (p.Gly383Ala)
2g.26484576C>TCA346137872OTOFc.1103G>A (p.Gly368Glu)
c.1148G>A (p.Gly383Glu)
2g.26484577C>ACA346137873OTOFc.1102G>T (p.Gly368Trp)
c.1147G>T (p.Gly383Trp)
2g.26484577C=CA1239831402OTOFc.1102G= (p.Gly368=)
c.1147G= (p.Gly383=)
2g.26484577C>GCA346137874OTOFc.1102G>C (p.Gly368Arg)
c.1147G>C (p.Gly383Arg)
 dbSNP
2g.26484577C>TCA346137875OTOFc.1102G>A (p.Gly368Arg)
c.1147G>A (p.Gly383Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.26484578C>ACA425207441OTOFc.1101G>T (p.Ser367=)
c.1146G>T (p.Ser382=)
 gnomAD v4
2g.26484578C=CA1239831405OTOFc.1101G= (p.Ser367=)
c.1146G= (p.Ser382=)
2g.26484578C>GCA425207440OTOFc.1101G>C (p.Ser367=)
c.1146G>C (p.Ser382=)
2g.26484578C>TCA1564378OTOFc.1101G>A (p.Ser367=)
c.1146G>A (p.Ser382=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484579_26484589delCA2586968847OTOFc.1091_1101del (p.Asp364GlyfsTer9)
c.1136_1146del (p.Asp379GlyfsTer9)
2g.26484579G>ACA1564379OTOFc.1100C>T (p.Ser367Leu)
c.1145C>T (p.Ser382Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484579G>CCA346137877OTOFc.1100C>G (p.Ser367Trp)
c.1145C>G (p.Ser382Trp)
2g.26484579G=CA1239831408OTOFc.1100C= (p.Ser367=)
c.1145C= (p.Ser382=)
2g.26484579G>TCA346137876OTOFc.1100C>A (p.Ser367Ter)
c.1145C>A (p.Ser382Ter)
2g.26484579_26484580insCCA2533243087OTOFc.1099_1100insG (p.Ser367CysfsTer10)
c.1144_1145insG (p.Ser382CysfsTer10)
2g.26484580A>CCA346137878OTOFc.1099T>G (p.Ser367Ala)
c.1144T>G (p.Ser382Ala)
 gnomAD v4
2g.26484580A>GCA346137879OTOFc.1099T>C (p.Ser367Pro)
c.1144T>C (p.Ser382Pro)
 gnomAD v4
2g.26484580A>TCA346137880OTOFc.1099T>A (p.Ser367Thr)
c.1144T>A (p.Ser382Thr)
2g.26484581G>ACA425207444OTOFc.1098C>T (p.Ser366=)
c.1143C>T (p.Ser381=)
 gnomAD v4
2g.26484581G>CCA425207446OTOFc.1098C>G (p.Ser366=)
c.1143C>G (p.Ser381=)
2g.26484581G>TCA425207445OTOFc.1098C>A (p.Ser366=)
c.1143C>A (p.Ser381=)
 gnomAD v4
2g.26484581_26484582insTCA2535446186OTOFc.1097_1098insA (p.Ser367LeufsTer10)
c.1142_1143insA (p.Ser382LeufsTer10)
2g.26484582G>ACA346137881OTOFc.1097C>T (p.Ser366Phe)
c.1142C>T (p.Ser381Phe)
 gnomAD v4
2g.26484582G>CCA346137882OTOFc.1097C>G (p.Ser366Cys)
c.1142C>G (p.Ser381Cys)
2g.26484582G>TCA346137883OTOFc.1097C>A (p.Ser366Tyr)
c.1142C>A (p.Ser381Tyr)
2g.26484583A>CCA346137884OTOFc.1096T>G (p.Ser366Ala)
c.1141T>G (p.Ser381Ala)
2g.26484583A>GCA346137885OTOFc.1096T>C (p.Ser366Pro)
c.1141T>C (p.Ser381Pro)
2g.26484583A>TCA346137886OTOFc.1096T>A (p.Ser366Thr)
c.1141T>A (p.Ser381Thr)
2g.26484584G>ACA425207448OTOFc.1095C>T (p.Ile365=)
c.1140C>T (p.Ile380=)
2g.26484584G>CCA346137887OTOFc.1095C>G (p.Ile365Met)
c.1140C>G (p.Ile380Met)
 gnomAD v4
2g.26484584G>TCA425207450OTOFc.1095C>A (p.Ile365=)
c.1140C>A (p.Ile380=)
 gnomAD v4 COSMIC
2g.26484585A>CCA346137888OTOFc.1094T>G (p.Ile365Ser)
c.1139T>G (p.Ile380Ser)
2g.26484585A>GCA346137889OTOFc.1094T>C (p.Ile365Thr)
c.1139T>C (p.Ile380Thr)
 gnomAD v4
2g.26484585A>TCA346137890OTOFc.1094T>A (p.Ile365Asn)
c.1139T>A (p.Ile380Asn)
2g.26484585_26484586delCA2529431841OTOFc.1093_1094del (p.Ile365LeufsTer11)
c.1138_1139del (p.Ile380LeufsTer11)
2g.26484586T>ACA346137891OTOFc.1093A>T (p.Ile365Phe)
c.1138A>T (p.Ile380Phe)
2g.26484586T>CCA346137893OTOFc.1093A>G (p.Ile365Val)
c.1138A>G (p.Ile380Val)
 dbSNP gnomAD v3 gnomAD v4
2g.26484586T>GCA346137892OTOFc.1093A>C (p.Ile365Leu)
c.1138A>C (p.Ile380Leu)
 dbSNP
2g.26484586T=CA1239831413OTOFc.1093A= (p.Ile365=)
c.1138A= (p.Ile380=)
2g.26484587G>ACA425207452OTOFc.1092C>T (p.Asp364=)
c.1137C>T (p.Asp379=)
2g.26484587G>CCA346137894OTOFc.1092C>G (p.Asp364Glu)
c.1137C>G (p.Asp379Glu)
 gnomAD v4
2g.26484587G>TCA346137895OTOFc.1092C>A (p.Asp364Glu)
c.1137C>A (p.Asp379Glu)
2g.26484588T>ACA346137896OTOFc.1091A>T (p.Asp364Val)
c.1136A>T (p.Asp379Val)
 dbSNP gnomAD v2 gnomAD v4
2g.26484588T>CCA346137898OTOFc.1091A>G (p.Asp364Gly)
c.1136A>G (p.Asp379Gly)
 dbSNP
2g.26484588T>GCA346137897OTOFc.1091A>C (p.Asp364Ala)
c.1136A>C (p.Asp379Ala)
2g.26484588T=CA1239831417OTOFc.1091A= (p.Asp364=)
c.1136A= (p.Asp379=)
2g.26484589C>ACA346137899OTOFc.1090G>T (p.Asp364Tyr)
c.1135G>T (p.Asp379Tyr)
2g.26484589C>GCA346137901OTOFc.1090G>C (p.Asp364His)
c.1135G>C (p.Asp379His)
2g.26484589C>TCA346137900OTOFc.1090G>A (p.Asp364Asn)
c.1135G>A (p.Asp379Asn)
2g.26484590A>CCA346137902OTOFc.1089T>G (p.Asp363Glu)
c.1134T>G (p.Asp378Glu)
 gnomAD v4
2g.26484590A>GCA425207455OTOFc.1089T>C (p.Asp363=)
c.1134T>C (p.Asp378=)
 gnomAD v4
2g.26484590A>TCA346137903OTOFc.1089T>A (p.Asp363Glu)
c.1134T>A (p.Asp378Glu)
2g.26484590_26484591delinsATCA1239831423OTOFc.1088_1089delinsAT (p.Asp363=)
c.1133_1134delinsAT (p.Asp378=)
2g.26484591delCA1239831425OTOFc.1088del (p.Asp363ValfsTer7)
c.1133del (p.Asp378ValfsTer7)
 dbSNP
2g.26484591T>ACA346137904OTOFc.1088A>T (p.Asp363Val)
c.1133A>T (p.Asp378Val)
2g.26484591T>CCA346137906OTOFc.1088A>G (p.Asp363Gly)
c.1133A>G (p.Asp378Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26484591T>GCA346137905OTOFc.1088A>C (p.Asp363Ala)
c.1133A>C (p.Asp378Ala)
2g.26484591T=CA1239831427OTOFc.1088A= (p.Asp363=)
c.1133A= (p.Asp378=)
2g.26484592C>ACA346137907OTOFc.1087G>T (p.Asp363Tyr)
c.1132G>T (p.Asp378Tyr)
2g.26484592C=CA1239831431OTOFc.1087G= (p.Asp363=)
c.1132G= (p.Asp378=)
2g.26484592C>GCA346137908OTOFc.1087G>C (p.Asp363His)
c.1132G>C (p.Asp378His)
2g.26484592C>TCA1564380OTOFc.1087G>A (p.Asp363Asn)
c.1132G>A (p.Asp378Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26484592_26484593delinsCGCA1239831433OTOFc.1086_1087delinsCG (p.Pro362=)
c.1131_1132delinsCG (p.Pro377=)
2g.26484593G>ACA1564381OTOFc.1086C>T (p.Pro362=)
c.1131C>T (p.Pro377=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484593G>CCA425207462OTOFc.1086C>G (p.Pro362=)
c.1131C>G (p.Pro377=)
 dbSNP
2g.26484593G=CA1239831437OTOFc.1086C= (p.Pro362=)
c.1131C= (p.Pro377=)
2g.26484593G>TCA425207463OTOFc.1086C>A (p.Pro362=)
c.1131C>A (p.Pro377=)
2g.26484596delCA44403138OTOFc.1086del (p.Asp363MetfsTer7)
c.1131del (p.Asp378MetfsTer7)
 dbSNP gnomAD v3 gnomAD v4
2g.26484593_26484600delCA2576699781OTOFc.1079_1086del (p.Ser360Ter)
c.1124_1131del (p.Ser375Ter)
2g.26484594G>ACA346137909OTOFc.1085C>T (p.Pro362Leu)
c.1130C>T (p.Pro377Leu)
2g.26484594G>CCA346137910OTOFc.1085C>G (p.Pro362Arg)
c.1130C>G (p.Pro377Arg)
2g.26484594G>TCA346137911OTOFc.1085C>A (p.Pro362His)
c.1130C>A (p.Pro377His)
2g.26484595G>ACA346137912OTOFc.1084C>T (p.Pro362Ser)
c.1129C>T (p.Pro377Ser)
 gnomAD v4
2g.26484595G>CCA1564382OTOFc.1084C>G (p.Pro362Ala)
c.1129C>G (p.Pro377Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484595G=CA1239831440OTOFc.1084C= (p.Pro362=)
c.1129C= (p.Pro377=)
2g.26484595G>TCA346137913OTOFc.1084C>A (p.Pro362Thr)
c.1129C>A (p.Pro377Thr)
2g.26484596G>ACA425207469OTOFc.1083C>T (p.Asp361=)
c.1128C>T (p.Asp376=)
2g.26484596G>CCA346137914OTOFc.1083C>G (p.Asp361Glu)
c.1128C>G (p.Asp376Glu)
2g.26484596G>TCA346137915OTOFc.1083C>A (p.Asp361Glu)
c.1128C>A (p.Asp376Glu)
2g.26484597T>ACA346137916OTOFc.1082A>T (p.Asp361Val)
c.1127A>T (p.Asp376Val)
2g.26484597T>CCA346137918OTOFc.1082A>G (p.Asp361Gly)
c.1127A>G (p.Asp376Gly)
2g.26484597T>GCA346137917OTOFc.1082A>C (p.Asp361Ala)
c.1127A>C (p.Asp376Ala)
2g.26484598C>ACA346137919OTOFc.1081G>T (p.Asp361Tyr)
c.1126G>T (p.Asp376Tyr)
2g.26484598C>GCA346137920OTOFc.1081G>C (p.Asp361His)
c.1126G>C (p.Asp376His)
2g.26484598C>TCA346137921OTOFc.1081G>A (p.Asp361Asn)
c.1126G>A (p.Asp376Asn)
2g.26484599A=CA1239831443OTOFc.1080T= (p.Ser360=)
c.1125T= (p.Ser375=)
2g.26484599A>CCA425207472OTOFc.1080T>G (p.Ser360=)
c.1125T>G (p.Ser375=)
 dbSNP
2g.26484599A>GCA425207473OTOFc.1080T>C (p.Ser360=)
c.1125T>C (p.Ser375=)
2g.26484599A>TCA425207474OTOFc.1080T>A (p.Ser360=)
c.1125T>A (p.Ser375=)
2g.26484600G>ACA346137922OTOFc.1079C>T (p.Ser360Phe)
c.1124C>T (p.Ser375Phe)
2g.26484600G>CCA346137923OTOFc.1079C>G (p.Ser360Cys)
c.1124C>G (p.Ser375Cys)
2g.26484600G>TCA346137924OTOFc.1079C>A (p.Ser360Tyr)
c.1124C>A (p.Ser375Tyr)
2g.26484601A>CCA346137925OTOFc.1078T>G (p.Ser360Ala)
c.1123T>G (p.Ser375Ala)
2g.26484601A>GCA346137926OTOFc.1078T>C (p.Ser360Pro)
c.1123T>C (p.Ser375Pro)
2g.26484601A>TCA346137927OTOFc.1078T>A (p.Ser360Thr)
c.1123T>A (p.Ser375Thr)
2g.26484602C>ACA425207476OTOFc.1077G>T (p.Leu359=)
c.1122G>T (p.Leu374=)
2g.26484602C=CA1239831447OTOFc.1077G= (p.Leu359=)
c.1122G= (p.Leu374=)
2g.26484602C>GCA425207481OTOFc.1077G>C (p.Leu359=)
c.1122G>C (p.Leu374=)
 dbSNP gnomAD v3 gnomAD v4
2g.26484602C>TCA425207478OTOFc.1077G>A (p.Leu359=)
c.1122G>A (p.Leu374=)
2g.26484603A>CCA346137930OTOFc.1076T>G (p.Leu359Arg)
c.1121T>G (p.Leu374Arg)
2g.26484603A>GCA346137929OTOFc.1076T>C (p.Leu359Pro)
c.1121T>C (p.Leu374Pro)
2g.26484603A>TCA346137928OTOFc.1076T>A (p.Leu359Gln)
c.1121T>A (p.Leu374Gln)
2g.26484604G>ACA425207483OTOFc.1075C>T (p.Leu359=)
c.1120C>T (p.Leu374=)
2g.26484604G>CCA346137931OTOFc.1075C>G (p.Leu359Val)
c.1120C>G (p.Leu374Val)
2g.26484604G>TCA346137932OTOFc.1075C>A (p.Leu359Met)
c.1120C>A (p.Leu374Met)
2g.26484605G>ACA425207484OTOFc.1074C>T (p.Ile358=)
c.1119C>T (p.Ile373=)
2g.26484605G>CCA346137933OTOFc.1074C>G (p.Ile358Met)
c.1119C>G (p.Ile373Met)
2g.26484605G>TCA425207485OTOFc.1074C>A (p.Ile358=)
c.1119C>A (p.Ile373=)
2g.26484606A>CCA346137934OTOFc.1073T>G (p.Ile358Ser)
c.1118T>G (p.Ile373Ser)
2g.26484606A>GCA346137935OTOFc.1073T>C (p.Ile358Thr)
c.1118T>C (p.Ile373Thr)
2g.26484606A>TCA346137936OTOFc.1073T>A (p.Ile358Asn)
c.1118T>A (p.Ile373Asn)
2g.26484607T>ACA346137937OTOFc.1072A>T (p.Ile358Phe)
c.1117A>T (p.Ile373Phe)
2g.26484607T>CCA346137938OTOFc.1072A>G (p.Ile358Val)
c.1117A>G (p.Ile373Val)
2g.26484607T>GCA346137939OTOFc.1072A>C (p.Ile358Leu)
c.1117A>C (p.Ile373Leu)
2g.26484608G>ACA425207489OTOFc.1071C>T (p.Ala357=)
c.1116C>T (p.Ala372=)
2g.26484608G>CCA425207490OTOFc.1071C>G (p.Ala357=)
c.1116C>G (p.Ala372=)
2g.26484608G=CA1239831450OTOFc.1071C= (p.Ala357=)
c.1116C= (p.Ala372=)
2g.26484608G>TCA1564383OTOFc.1071C>A (p.Ala357=)
c.1116C>A (p.Ala372=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484608_26484609insAACA2749240870OTOFc.1070_1071insTT (p.Ile358SerfsTer13)
c.1115_1116insTT (p.Ile373SerfsTer13)
2g.26484609G>ACA346137940OTOFc.1070C>T (p.Ala357Val)
c.1115C>T (p.Ala372Val)
 COSMIC
2g.26484609G>CCA346137941OTOFc.1070C>G (p.Ala357Gly)
c.1115C>G (p.Ala372Gly)
2g.26484609G>TCA346137942OTOFc.1070C>A (p.Ala357Asp)
c.1115C>A (p.Ala372Asp)
2g.26484610C>ACA346137943OTOFc.1069G>T (p.Ala357Ser)
c.1114G>T (p.Ala372Ser)
2g.26484610C>GCA346137945OTOFc.1069G>C (p.Ala357Pro)
c.1114G>C (p.Ala372Pro)
2g.26484610C>TCA346137944OTOFc.1069G>A (p.Ala357Thr)
c.1114G>A (p.Ala372Thr)
2g.26484611C>ACA346137946OTOFc.1068G>T (p.Trp356Cys)
c.1113G>T (p.Trp371Cys)
2g.26484611C>GCA346137947OTOFc.1068G>C (p.Trp356Cys)
c.1113G>C (p.Trp371Cys)
2g.26484611C>TCA346137948OTOFc.1068G>A (p.Trp356Ter)
c.1113G>A (p.Trp371Ter)
 ClinVar
2g.26484612C>ACA346137949OTOFc.1067G>T (p.Trp356Leu)
c.1112G>T (p.Trp371Leu)
2g.26484612C>GCA346137950OTOFc.1067G>C (p.Trp356Ser)
c.1112G>C (p.Trp371Ser)
2g.26484612C>TCA346137951OTOFc.1067G>A (p.Trp356Ter)
c.1112G>A (p.Trp371Ter)
 ClinVar gnomAD v4
2g.26484613A>CCA346137952OTOFc.1066T>G (p.Trp356Gly)
c.1111T>G (p.Trp371Gly)
2g.26484613A>GCA346137953OTOFc.1066T>C (p.Trp356Arg)
c.1111T>C (p.Trp371Arg)
 gnomAD v4
2g.26484613A>TCA346137954OTOFc.1066T>A (p.Trp356Arg)
c.1111T>A (p.Trp371Arg)
2g.26484614C>ACA346137955OTOFc.1065G>T (p.Lys355Asn)
c.1110G>T (p.Lys370Asn)
2g.26484614C>GCA346137956OTOFc.1065G>C (p.Lys355Asn)
c.1110G>C (p.Lys370Asn)
2g.26484614C>TCA425207501OTOFc.1065G>A (p.Lys355=)
c.1110G>A (p.Lys370=)
2g.26484615T>ACA346137958OTOFc.1064A>T (p.Lys355Met)
c.1109A>T (p.Lys370Met)
2g.26484615T>CCA1564384OTOFc.1064A>G (p.Lys355Arg)
c.1109A>G (p.Lys370Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484615T>GCA346137957OTOFc.1064A>C (p.Lys355Thr)
c.1109A>C (p.Lys370Thr)
2g.26484615T=CA1239831454OTOFc.1064A= (p.Lys355=)
c.1109A= (p.Lys370=)
2g.26484616T>ACA346137959OTOFc.1063A>T (p.Lys355Ter)
c.1108A>T (p.Lys370Ter)
 gnomAD v4
2g.26484616T>CCA346137960OTOFc.1063A>G (p.Lys355Glu)
c.1108A>G (p.Lys370Glu)
2g.26484616T>GCA346137961OTOFc.1063A>C (p.Lys355Gln)
c.1108A>C (p.Lys370Gln)
2g.26484617G>ACA425207503OTOFc.1062C>T (p.His354=)
c.1107C>T (p.His369=)
2g.26484617G>CCA346137962OTOFc.1062C>G (p.His354Gln)
c.1107C>G (p.His369Gln)
2g.26484617G>TCA346137963OTOFc.1062C>A (p.His354Gln)
c.1107C>A (p.His369Gln)
2g.26484618T>ACA346137966OTOFc.1061A>T (p.His354Leu)
c.1106A>T (p.His369Leu)
 COSMIC
2g.26484618T>CCA346137964OTOFc.1061A>G (p.His354Arg)
c.1106A>G (p.His369Arg)
2g.26484618T>GCA346137965OTOFc.1061A>C (p.His354Pro)
c.1106A>C (p.His369Pro)
2g.26484619G>ACA346137967OTOFc.1060C>T (p.His354Tyr)
c.1105C>T (p.His369Tyr)
 COSMIC
2g.26484619G>CCA346137968OTOFc.1060C>G (p.His354Asp)
c.1105C>G (p.His369Asp)
2g.26484619G>TCA346137969OTOFc.1060C>A (p.His354Asn)
c.1105C>A (p.His369Asn)
2g.26484620A>CCA346137970OTOFc.1059T>G (p.His353Gln)
c.1104T>G (p.His368Gln)
2g.26484620A>GCA425207504OTOFc.1059T>C (p.His353=)
c.1104T>C (p.His368=)
2g.26484620A>TCA346137971OTOFc.1059T>A (p.His353Gln)
c.1104T>A (p.His368Gln)
2g.26484621T>ACA346137974OTOFc.1058A>T (p.His353Leu)
c.1103A>T (p.His368Leu)
2g.26484621T>CCA346137972OTOFc.1058A>G (p.His353Arg)
c.1103A>G (p.His368Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26484621T>GCA346137973OTOFc.1058A>C (p.His353Pro)
c.1103A>C (p.His368Pro)
2g.26484621T=CA1239831456OTOFc.1058A= (p.His353=)
c.1103A= (p.His368=)
2g.26484622G>ACA346137975OTOFc.1057C>T (p.His353Tyr)
c.1102C>T (p.His368Tyr)
2g.26484622G>CCA346137976OTOFc.1057C>G (p.His353Asp)
c.1102C>G (p.His368Asp)
2g.26484622G>TCA346137977OTOFc.1057C>A (p.His353Asn)
c.1102C>A (p.His368Asn)
2g.26484623G>ACA425207505OTOFc.1056C>T (p.Phe352=)
c.1101C>T (p.Phe367=)
2g.26484623G>CCA346137978OTOFc.1056C>G (p.Phe352Leu)
c.1101C>G (p.Phe367Leu)
 gnomAD v4
2g.26484623G>TCA346137979OTOFc.1056C>A (p.Phe352Leu)
c.1101C>A (p.Phe367Leu)
2g.26484624A=CA1239831459OTOFc.1055T= (p.Phe352=)
c.1100T= (p.Phe367=)
2g.26484624A>CCA346137980OTOFc.1055T>G (p.Phe352Cys)
c.1100T>G (p.Phe367Cys)
 dbSNP
2g.26484624A>GCA346137981OTOFc.1055T>C (p.Phe352Ser)
c.1100T>C (p.Phe367Ser)
2g.26484624A>TCA346137982OTOFc.1055T>A (p.Phe352Tyr)
c.1100T>A (p.Phe367Tyr)
2g.26484625A>CCA346137983OTOFc.1054T>G (p.Phe352Val)
c.1099T>G (p.Phe367Val)
2g.26484625A>GCA346137984OTOFc.1054T>C (p.Phe352Leu)
c.1099T>C (p.Phe367Leu)
2g.26484625A>TCA346137985OTOFc.1054T>A (p.Phe352Ile)
c.1099T>A (p.Phe367Ile)
2g.26484626C>ACA346137986OTOFc.1053G>T (p.Gln351His)
c.1098G>T (p.Gln366His)
2g.26484626C>GCA346137987OTOFc.1053G>C (p.Gln351His)
c.1098G>C (p.Gln366His)
2g.26484626C>TCA425207506OTOFc.1053G>A (p.Gln351=)
c.1098G>A (p.Gln366=)
2g.26484627T>ACA346137988OTOFc.1052A>T (p.Gln351Leu)
c.1097A>T (p.Gln366Leu)
2g.26484627T>CCA346137990OTOFc.1052A>G (p.Gln351Arg)
c.1097A>G (p.Gln366Arg)
 dbSNP gnomAD v4
2g.26484627T>GCA346137989OTOFc.1052A>C (p.Gln351Pro)
c.1097A>C (p.Gln366Pro)
2g.26484627T=CA1239831462OTOFc.1052A= (p.Gln351=)
c.1097A= (p.Gln366=)
2g.26484628G>ACA346137991OTOFc.1051C>T (p.Gln351Ter)
c.1096C>T (p.Gln366Ter)
 ClinVar dbSNP gnomAD v4
2g.26484628G>CCA346137992OTOFc.1051C>G (p.Gln351Glu)
c.1096C>G (p.Gln366Glu)
 gnomAD v4
2g.26484628G=CA1239831472OTOFc.1051C= (p.Gln351=)
c.1096C= (p.Gln366=)
2g.26484628G>TCA346137993OTOFc.1051C>A (p.Gln351Lys)
c.1096C>A (p.Gln366Lys)
2g.26484629G>ACA425207507OTOFc.1050C>T (p.His350=)
c.1095C>T (p.His365=)
2g.26484629G>CCA346137994OTOFc.1050C>G (p.His350Gln)
c.1095C>G (p.His365Gln)
2g.26484629G>TCA346137995OTOFc.1050C>A (p.His350Gln)
c.1095C>A (p.His365Gln)
2g.26484630T>ACA346137996OTOFc.1049A>T (p.His350Leu)
c.1094A>T (p.His365Leu)
 gnomAD v4
2g.26484630T>CCA346137997OTOFc.1049A>G (p.His350Arg)
c.1094A>G (p.His365Arg)
2g.26484630T>GCA346137998OTOFc.1049A>C (p.His350Pro)
c.1094A>C (p.His365Pro)
2g.26484631G>ACA346137999OTOFc.1048C>T (p.His350Tyr)
c.1093C>T (p.His365Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26484631G>CCA346138000OTOFc.1048C>G (p.His350Asp)
c.1093C>G (p.His365Asp)
2g.26484631G=CA1239831476OTOFc.1048C= (p.His350=)
c.1093C= (p.His365=)
2g.26484631G>TCA346138001OTOFc.1048C>A (p.His350Asn)
c.1093C>A (p.His365Asn)
2g.26484632C>ACA346138002OTOFc.1047G>T (p.Glu349Asp)
c.1092G>T (p.Glu364Asp)
2g.26484632C=CA1239831478OTOFc.1047G= (p.Glu349=)
c.1092G= (p.Glu364=)
2g.26484632C>GCA346138003OTOFc.1047G>C (p.Glu349Asp)
c.1092G>C (p.Glu364Asp)
2g.26484632C>TCA425207508OTOFc.1047G>A (p.Glu349=)
c.1092G>A (p.Glu364=)
 dbSNP
2g.26484633T>ACA346138006OTOFc.1046A>T (p.Glu349Val)
c.1091A>T (p.Glu364Val)
2g.26484633T>CCA346138004OTOFc.1046A>G (p.Glu349Gly)
c.1091A>G (p.Glu364Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.26484633T>GCA346138005OTOFc.1046A>C (p.Glu349Ala)
c.1091A>C (p.Glu364Ala)
2g.26484633T=CA1239831482OTOFc.1046A= (p.Glu349=)
c.1091A= (p.Glu364=)
2g.26484634C>ACA346138007OTOFc.1046-1G>T (n.1046-1G>T)
c.1091-1G>T (n.1091-1G>T)
2g.26484634C=CA1239831485OTOFc.1046-1G= (n.1046-1G=)
c.1091-1G= (n.1091-1G=)
2g.26484634C>GCA346138008OTOFc.1046-1G>C (n.1046-1G>C)
c.1091-1G>C (n.1091-1G>C)
 gnomAD v4
2g.26484634C>TCA346138009OTOFc.1046-1G>A (n.1046-1G>A)
c.1091-1G>A (n.1091-1G>A)
 dbSNP gnomAD v4
2g.26484635T>ACA346138010OTOFc.1046-2A>T (n.1046-2A>T)
c.1091-2A>T (n.1091-2A>T)
2g.26484635T>CCA346138011OTOFc.1046-2A>G (n.1046-2A>G)
c.1091-2A>G (n.1091-2A>G)
2g.26484635T>GCA346138012OTOFc.1046-2A>C (n.1046-2A>C)
c.1091-2A>C (n.1091-2A>C)
2g.26484636G=CA1239831487OTOFc.1046-3C= (n.1046-3C=)
c.1091-3C= (n.1091-3C=)
2g.26484636G>TCA1239831488OTOFc.1046-3C>A (n.1046-3C>A)
c.1091-3C>A (n.1091-3C>A)
 dbSNP
2g.26484637C>ACA1239831491OTOFc.1046-4G>T (n.1046-4G>T)
c.1091-4G>T (n.1091-4G>T)
 dbSNP
2g.26484637C=CA1239831490OTOFc.1046-4G= (n.1046-4G=)
c.1091-4G= (n.1091-4G=)
2g.26484638A>GCA2658240038OTOFc.1046-5T>C (n.1046-5T>C)
c.1091-5T>C (n.1091-5T>C)
 gnomAD v4
2g.26484640T>CCA1564385OTOFc.1046-7A>G (n.1046-7A>G)
c.1091-7A>G (n.1091-7A>G)
 ClinVar dbSNP ExAC gnomAD v2
2g.26484640T=CA1239831493OTOFc.1046-7A= (n.1046-7A=)
c.1091-7A= (n.1091-7A=)
2g.26484641G>ACA2658240039OTOFc.1046-8C>T (n.1046-8C>T)
c.1091-8C>T (n.1091-8C>T)
 gnomAD v4
2g.26484642A=CA1239831496OTOFc.1046-9T= (n.1046-9T=)
c.1091-9T= (n.1091-9T=)
2g.26484642A>CCA531396770OTOFc.1046-9T>G (n.1046-9T>G)
c.1091-9T>G (n.1091-9T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26484642A>GCA2576699782OTOFc.1046-9T>C (n.1046-9T>C)
c.1091-9T>C (n.1091-9T>C)
2g.26484643T>CCA1239831500OTOFc.1046-10A>G (n.1046-10A>G)
c.1091-10A>G (n.1091-10A>G)
 ClinVar dbSNP
2g.26484643T=CA1239831499OTOFc.1046-10A= (n.1046-10A=)
c.1091-10A= (n.1091-10A=)

Number of alleles fetched