Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26484484C>ACA346137669OTOFc.1195G>T (p.Asp399Tyr)
c.1240G>T (p.Asp414Tyr)
 gnomAD v4
2g.26484484C>GCA346137673OTOFc.1195G>C (p.Asp399His)
c.1240G>C (p.Asp414His)
2g.26484484C>TCA346137672OTOFc.1195G>A (p.Asp399Asn)
c.1240G>A (p.Asp414Asn)
2g.26484485A=CA1239831217OTOFc.1194T= (p.Asp398=)
c.1239T= (p.Asp413=)
2g.26484485A>CCA346137674OTOFc.1194T>G (p.Asp398Glu)
c.1239T>G (p.Asp413Glu)
2g.26484485A>GCA425207323OTOFc.1194T>C (p.Asp398=)
c.1239T>C (p.Asp413=)
2g.26484485A>TCA142734OTOFc.1194T>A (p.Asp398Glu)
c.1239T>A (p.Asp413Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484486T>ACA346137675OTOFc.1193A>T (p.Asp398Val)
c.1238A>T (p.Asp413Val)
2g.26484486T>CCA346137676OTOFc.1193A>G (p.Asp398Gly)
c.1238A>G (p.Asp413Gly)
2g.26484486T>GCA346137677OTOFc.1193A>C (p.Asp398Ala)
c.1238A>C (p.Asp413Ala)
2g.26484487C>ACA346137678OTOFc.1192G>T (p.Asp398Tyr)
c.1237G>T (p.Asp413Tyr)
2g.26484487C=CA1239831221OTOFc.1192G= (p.Asp398=)
c.1237G= (p.Asp413=)
2g.26484487C>GCA346137679OTOFc.1192G>C (p.Asp398His)
c.1237G>C (p.Asp413His)
2g.26484487C>TCA346137680OTOFc.1192G>A (p.Asp398Asn)
c.1237G>A (p.Asp413Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26484488T>ACA346137681OTOFc.1191A>T (p.Glu397Asp)
c.1236A>T (p.Glu412Asp)
2g.26484488T>CCA425207324OTOFc.1191A>G (p.Glu397=)
c.1236A>G (p.Glu412=)
2g.26484488T>GCA346137682OTOFc.1191A>C (p.Glu397Asp)
c.1236A>C (p.Glu412Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.26484488T=CA1239831224OTOFc.1191A= (p.Glu397=)
c.1236A= (p.Glu412=)
2g.26484489T>ACA346137683OTOFc.1190A>T (p.Glu397Val)
c.1235A>T (p.Glu412Val)
2g.26484489T>CCA346137684OTOFc.1190A>G (p.Glu397Gly)
c.1235A>G (p.Glu412Gly)
2g.26484489T>GCA346137685OTOFc.1190A>C (p.Glu397Ala)
c.1235A>C (p.Glu412Ala)
2g.26484490C>ACA346137688OTOFc.1189G>T (p.Glu397Ter)
c.1234G>T (p.Glu412Ter)
2g.26484490C=CA1239831228OTOFc.1189G= (p.Glu397=)
c.1234G= (p.Glu412=)
2g.26484490C>GCA346137687OTOFc.1189G>C (p.Glu397Gln)
c.1234G>C (p.Glu412Gln)
2g.26484490C>TCA346137686OTOFc.1189G>A (p.Glu397Lys)
c.1234G>A (p.Glu412Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26484491G>ACA1564360OTOFc.1188C>T (p.Asp396=)
c.1233C>T (p.Asp411=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484491G>CCA346137689OTOFc.1188C>G (p.Asp396Glu)
c.1233C>G (p.Asp411Glu)
2g.26484491G=CA1239831231OTOFc.1188C= (p.Asp396=)
c.1233C= (p.Asp411=)
2g.26484491G>TCA346137690OTOFc.1188C>A (p.Asp396Glu)
c.1233C>A (p.Asp411Glu)
 dbSNP gnomAD v4
2g.26484492T>ACA346137691OTOFc.1187A>T (p.Asp396Val)
c.1232A>T (p.Asp411Val)
2g.26484492T>CCA346137692OTOFc.1187A>G (p.Asp396Gly)
c.1232A>G (p.Asp411Gly)
2g.26484492T>GCA346137693OTOFc.1187A>C (p.Asp396Ala)
c.1232A>C (p.Asp411Ala)
2g.26484493C>ACA346137694OTOFc.1186G>T (p.Asp396Tyr)
c.1231G>T (p.Asp411Tyr)
2g.26484493C=CA1239831234OTOFc.1186G= (p.Asp396=)
c.1231G= (p.Asp411=)
2g.26484493C>GCA346137695OTOFc.1186G>C (p.Asp396His)
c.1231G>C (p.Asp411His)
2g.26484493C>TCA1564361OTOFc.1186G>A (p.Asp396Asn)
c.1231G>A (p.Asp411Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484494G>ACA142732OTOFc.1185C>T (p.Thr395=)
c.1230C>T (p.Thr410=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484494G>CCA425207325OTOFc.1185C>G (p.Thr395=)
c.1230C>G (p.Thr410=)
2g.26484494G=CA1239831241OTOFc.1185C= (p.Thr395=)
c.1230C= (p.Thr410=)
2g.26484494G>TCA1564362OTOFc.1185C>A (p.Thr395=)
c.1230C>A (p.Thr410=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484495G>ACA346137698OTOFc.1184C>T (p.Thr395Ile)
c.1229C>T (p.Thr410Ile)
2g.26484495G>CCA346137697OTOFc.1184C>G (p.Thr395Ser)
c.1229C>G (p.Thr410Ser)
 gnomAD v4
2g.26484495G>TCA346137696OTOFc.1184C>A (p.Thr395Asn)
c.1229C>A (p.Thr410Asn)
 COSMIC
2g.26484496T>ACA346137699OTOFc.1183A>T (p.Thr395Ser)
c.1228A>T (p.Thr410Ser)
2g.26484496T>CCA346137700OTOFc.1183A>G (p.Thr395Ala)
c.1228A>G (p.Thr410Ala)
2g.26484496T>GCA346137701OTOFc.1183A>C (p.Thr395Pro)
c.1228A>C (p.Thr410Pro)
2g.26484497C>ACA346137702OTOFc.1182G>T (p.Glu394Asp)
c.1227G>T (p.Glu409Asp)
2g.26484497C>GCA346137703OTOFc.1182G>C (p.Glu394Asp)
c.1227G>C (p.Glu409Asp)
2g.26484497C>TCA425207326OTOFc.1182G>A (p.Glu394=)
c.1227G>A (p.Glu409=)
 gnomAD v4
2g.26484498T>ACA346137704OTOFc.1181A>T (p.Glu394Val)
c.1226A>T (p.Glu409Val)
2g.26484498T>CCA346137705OTOFc.1181A>G (p.Glu394Gly)
c.1226A>G (p.Glu409Gly)
2g.26484498T>GCA1564363OTOFc.1181A>C (p.Glu394Ala)
c.1226A>C (p.Glu409Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484498T=CA1239831249OTOFc.1181A= (p.Glu394=)
c.1226A= (p.Glu409=)
2g.26484499C>ACA346137706OTOFc.1180G>T (p.Glu394Ter)
c.1225G>T (p.Glu409Ter)
2g.26484499C>GCA346137707OTOFc.1180G>C (p.Glu394Gln)
c.1225G>C (p.Glu409Gln)
2g.26484499C>TCA346137708OTOFc.1180G>A (p.Glu394Lys)
c.1225G>A (p.Glu409Lys)
2g.26484499dupCA345085OTOFc.1180dup (p.Glu394GlyfsTer6)
c.1225dup (p.Glu409GlyfsTer6)
 ClinVar dbSNP
2g.26484500A>CCA346137710OTOFc.1179T>G (p.Asn393Lys)
c.1224T>G (p.Asn408Lys)
 gnomAD v4
2g.26484500A>GCA425207327OTOFc.1179T>C (p.Asn393=)
c.1224T>C (p.Asn408=)
2g.26484500A>TCA346137709OTOFc.1179T>A (p.Asn393Lys)
c.1224T>A (p.Asn408Lys)
2g.26484501T>ACA346137711OTOFc.1178A>T (p.Asn393Ile)
c.1223A>T (p.Asn408Ile)
2g.26484501T>CCA346137712OTOFc.1178A>G (p.Asn393Ser)
c.1223A>G (p.Asn408Ser)
 dbSNP gnomAD v4
2g.26484501T>GCA346137713OTOFc.1178A>C (p.Asn393Thr)
c.1223A>C (p.Asn408Thr)
2g.26484501T=CA1239831260OTOFc.1178A= (p.Asn393=)
c.1223A= (p.Asn408=)
2g.26484502T>ACA346137714OTOFc.1177A>T (p.Asn393Tyr)
c.1222A>T (p.Asn408Tyr)
2g.26484502T>CCA346137715OTOFc.1177A>G (p.Asn393Asp)
c.1222A>G (p.Asn408Asp)
2g.26484502T>GCA346137716OTOFc.1177A>C (p.Asn393His)
c.1222A>C (p.Asn408His)
2g.26484503G>ACA425207328OTOFc.1176C>T (p.Ala392=)
c.1221C>T (p.Ala407=)
 ClinVar dbSNP
2g.26484503G>CCA425207329OTOFc.1176C>G (p.Ala392=)
c.1221C>G (p.Ala407=)
2g.26484503G=CA1239831262OTOFc.1176C= (p.Ala392=)
c.1221C= (p.Ala407=)
2g.26484503G>TCA425207330OTOFc.1176C>A (p.Ala392=)
c.1221C>A (p.Ala407=)
2g.26484504G>ACA346137717OTOFc.1175C>T (p.Ala392Val)
c.1220C>T (p.Ala407Val)
2g.26484504G>CCA346137718OTOFc.1175C>G (p.Ala392Gly)
c.1220C>G (p.Ala407Gly)
2g.26484504G>TCA346137719OTOFc.1175C>A (p.Ala392Asp)
c.1220C>A (p.Ala407Asp)
2g.26484505C>ACA346137720OTOFc.1174G>T (p.Ala392Ser)
c.1219G>T (p.Ala407Ser)
2g.26484505C>GCA346137721OTOFc.1174G>C (p.Ala392Pro)
c.1219G>C (p.Ala407Pro)
2g.26484505C>TCA346137722OTOFc.1174G>A (p.Ala392Thr)
c.1219G>A (p.Ala407Thr)
2g.26484506C>ACA346137724OTOFc.1173G>T (p.Lys391Asn)
c.1218G>T (p.Lys406Asn)
2g.26484506C>GCA346137723OTOFc.1173G>C (p.Lys391Asn)
c.1218G>C (p.Lys406Asn)
2g.26484506C>TCA425207331OTOFc.1173G>A (p.Lys391=)
c.1218G>A (p.Lys406=)
2g.26484506_26484507delinsCTCA1239831267OTOFc.1172_1173delinsAG (p.Lys391=)
c.1217_1218delinsAG (p.Lys406=)
2g.26484507T>ACA346137725OTOFc.1172A>T (p.Lys391Met)
c.1217A>T (p.Lys406Met)
2g.26484507T>CCA1564364OTOFc.1172A>G (p.Lys391Arg)
c.1217A>G (p.Lys406Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484507T>GCA346137726OTOFc.1172A>C (p.Lys391Thr)
c.1217A>C (p.Lys406Thr)
2g.26484507T=CA1239831276OTOFc.1172A= (p.Lys391=)
c.1217A= (p.Lys406=)
2g.26484508delCA269913OTOFc.1172del (p.Lys391ArgfsTer?)
c.1217del (p.Lys406ArgfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484508T>ACA346137727OTOFc.1171A>T (p.Lys391Ter)
c.1216A>T (p.Lys406Ter)
2g.26484508T>CCA346137728OTOFc.1171A>G (p.Lys391Glu)
c.1216A>G (p.Lys406Glu)
2g.26484508T>GCA346137729OTOFc.1171A>C (p.Lys391Gln)
c.1216A>C (p.Lys406Gln)
2g.26484509G>ACA425207332OTOFc.1170C>T (p.His390=)
c.1215C>T (p.His405=)
2g.26484509G>CCA44403048OTOFc.1170C>G (p.His390Gln)
c.1215C>G (p.His405Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.26484509G=CA1239831280OTOFc.1170C= (p.His390=)
c.1215C= (p.His405=)
2g.26484509G>TCA346137730OTOFc.1170C>A (p.His390Gln)
c.1215C>A (p.His405Gln)
2g.26484510T>ACA346137731OTOFc.1169A>T (p.His390Leu)
c.1214A>T (p.His405Leu)
2g.26484510T>CCA346137732OTOFc.1169A>G (p.His390Arg)
c.1214A>G (p.His405Arg)
2g.26484510T>GCA346137733OTOFc.1169A>C (p.His390Pro)
c.1214A>C (p.His405Pro)
2g.26484511G>ACA346137734OTOFc.1168C>T (p.His390Tyr)
c.1213C>T (p.His405Tyr)
2g.26484511G>CCA346137735OTOFc.1168C>G (p.His390Asp)
c.1213C>G (p.His405Asp)
2g.26484511G>TCA346137736OTOFc.1168C>A (p.His390Asn)
c.1213C>A (p.His405Asn)
2g.26484512G>ACA425207333OTOFc.1167C>T (p.Pro389=)
c.1212C>T (p.Pro404=)
2g.26484512G>CCA425207334OTOFc.1167C>G (p.Pro389=)
c.1212C>G (p.Pro404=)
2g.26484512G>TCA425207336OTOFc.1167C>A (p.Pro389=)
c.1212C>A (p.Pro404=)
2g.26484513G>ACA346137739OTOFc.1166C>T (p.Pro389Leu)
c.1211C>T (p.Pro404Leu)
2g.26484513G>CCA346137737OTOFc.1166C>G (p.Pro389Arg)
c.1211C>G (p.Pro404Arg)
2g.26484513G>TCA346137738OTOFc.1166C>A (p.Pro389His)
c.1211C>A (p.Pro404His)
2g.26484514G>ACA346137740OTOFc.1165C>T (p.Pro389Ser)
c.1210C>T (p.Pro404Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26484514G>CCA346137741OTOFc.1165C>G (p.Pro389Ala)
c.1210C>G (p.Pro404Ala)
 gnomAD v4
2g.26484514G=CA1239831283OTOFc.1165C= (p.Pro389=)
c.1210C= (p.Pro404=)
2g.26484514G>TCA346137742OTOFc.1165C>A (p.Pro389Thr)
c.1210C>A (p.Pro404Thr)
2g.26484515C>ACA425207338OTOFc.1164G>T (p.Thr388=)
c.1209G>T (p.Thr403=)
 dbSNP
2g.26484515C=CA1239831285OTOFc.1164G= (p.Thr388=)
c.1209G= (p.Thr403=)
2g.26484515C>GCA425207339OTOFc.1164G>C (p.Thr388=)
c.1209G>C (p.Thr403=)
2g.26484515C>TCA425207340OTOFc.1164G>A (p.Thr388=)
c.1209G>A (p.Thr403=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26484516G>ACA1564365OTOFc.1163C>T (p.Thr388Met)
c.1208C>T (p.Thr403Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26484516G>CCA346137743OTOFc.1163C>G (p.Thr388Arg)
c.1208C>G (p.Thr403Arg)
2g.26484516G=CA1239831290OTOFc.1163C= (p.Thr388=)
c.1208C= (p.Thr403=)
2g.26484516G>TCA346137744OTOFc.1163C>A (p.Thr388Lys)
c.1208C>A (p.Thr403Lys)
2g.26484517T>ACA346137745OTOFc.1162A>T (p.Thr388Ser)
c.1207A>T (p.Thr403Ser)
2g.26484517T>CCA346137746OTOFc.1162A>G (p.Thr388Ala)
c.1207A>G (p.Thr403Ala)
2g.26484517T>GCA346137748OTOFc.1162A>C (p.Thr388Pro)
c.1207A>C (p.Thr403Pro)
2g.26484518C>ACA346137749OTOFc.1161G>T (p.Lys387Asn)
c.1206G>T (p.Lys402Asn)
2g.26484518C>GCA346137750OTOFc.1161G>C (p.Lys387Asn)
c.1206G>C (p.Lys402Asn)
 dbSNP
2g.26484518C>TCA425207344OTOFc.1161G>A (p.Lys387=)
c.1206G>A (p.Lys402=)
2g.26484519T>ACA346137753OTOFc.1160A>T (p.Lys387Met)
c.1205A>T (p.Lys402Met)
2g.26484519T>CCA346137752OTOFc.1160A>G (p.Lys387Arg)
c.1205A>G (p.Lys402Arg)
2g.26484519T>GCA346137751OTOFc.1160A>C (p.Lys387Thr)
c.1205A>C (p.Lys402Thr)
2g.26484520T>ACA346137754OTOFc.1159A>T (p.Lys387Ter)
c.1204A>T (p.Lys402Ter)
2g.26484520T>CCA346137755OTOFc.1159A>G (p.Lys387Glu)
c.1204A>G (p.Lys402Glu)
2g.26484520T>GCA346137756OTOFc.1159A>C (p.Lys387Gln)
c.1204A>C (p.Lys402Gln)
2g.26484521G>ACA425207349OTOFc.1158C>T (p.Ile386=)
c.1203C>T (p.Ile401=)
2g.26484521G>CCA44403049OTOFc.1158C>G (p.Ile386Met)
c.1203C>G (p.Ile401Met)
 dbSNP gnomAD v4
2g.26484521G=CA1239831293OTOFc.1158C= (p.Ile386=)
c.1203C= (p.Ile401=)
2g.26484521G>TCA425207350OTOFc.1158C>A (p.Ile386=)
c.1203C>A (p.Ile401=)
 COSMIC
2g.26484522A=CA1239831296OTOFc.1157T= (p.Ile386=)
c.1202T= (p.Ile401=)
2g.26484522A>CCA346137757OTOFc.1157T>G (p.Ile386Ser)
c.1202T>G (p.Ile401Ser)
2g.26484522A>GCA1564366OTOFc.1157T>C (p.Ile386Thr)
c.1202T>C (p.Ile401Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484522A>TCA346137758OTOFc.1157T>A (p.Ile386Asn)
c.1202T>A (p.Ile401Asn)
2g.26484523T>ACA346137759OTOFc.1156A>T (p.Ile386Phe)
c.1201A>T (p.Ile401Phe)
2g.26484523T>CCA346137760OTOFc.1156A>G (p.Ile386Val)
c.1201A>G (p.Ile401Val)
2g.26484523T>GCA346137761OTOFc.1156A>C (p.Ile386Leu)
c.1201A>C (p.Ile401Leu)
2g.26484524G>ACA425207352OTOFc.1155C>T (p.Asn385=)
c.1200C>T (p.Asn400=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26484524G>CCA346137762OTOFc.1155C>G (p.Asn385Lys)
c.1200C>G (p.Asn400Lys)
2g.26484524G=CA1239831300OTOFc.1155C= (p.Asn385=)
c.1200C= (p.Asn400=)
2g.26484524G>TCA346137763OTOFc.1155C>A (p.Asn385Lys)
c.1200C>A (p.Asn400Lys)
2g.26484525T>ACA346137766OTOFc.1154A>T (p.Asn385Ile)
c.1199A>T (p.Asn400Ile)
2g.26484525T>CCA346137765OTOFc.1154A>G (p.Asn385Ser)
c.1199A>G (p.Asn400Ser)
2g.26484525T>GCA346137764OTOFc.1154A>C (p.Asn385Thr)
c.1199A>C (p.Asn400Thr)
2g.26484526T>ACA346137767OTOFc.1153A>T (p.Asn385Tyr)
c.1198A>T (p.Asn400Tyr)
2g.26484526T>CCA1564367OTOFc.1153A>G (p.Asn385Asp)
c.1198A>G (p.Asn400Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484526T>GCA346137768OTOFc.1153A>C (p.Asn385His)
c.1198A>C (p.Asn400His)
2g.26484526T=CA1239831305OTOFc.1153A= (p.Asn385=)
c.1198A= (p.Asn400=)
2g.26484527G>ACA425207356OTOFc.1152C>T (p.Asp384=)
c.1197C>T (p.Asp399=)
2g.26484527G>CCA346137769OTOFc.1152C>G (p.Asp384Glu)
c.1197C>G (p.Asp399Glu)
2g.26484527G=CA1239831308OTOFc.1152C= (p.Asp384=)
c.1197C= (p.Asp399=)
2g.26484527G>TCA346137770OTOFc.1152C>A (p.Asp384Glu)
c.1197C>A (p.Asp399Glu)
 dbSNP
2g.26484528T>ACA346137771OTOFc.1151A>T (p.Asp384Val)
c.1196A>T (p.Asp399Val)
2g.26484528T>CCA346137772OTOFc.1151A>G (p.Asp384Gly)
c.1196A>G (p.Asp399Gly)
2g.26484528T>GCA346137773OTOFc.1151A>C (p.Asp384Ala)
c.1196A>C (p.Asp399Ala)
2g.26484529C>ACA346137774OTOFc.1150G>T (p.Asp384Tyr)
c.1195G>T (p.Asp399Tyr)
2g.26484529C=CA1239831311OTOFc.1150G= (p.Asp384=)
c.1195G= (p.Asp399=)
2g.26484529C>GCA346137775OTOFc.1150G>C (p.Asp384His)
c.1195G>C (p.Asp399His)
2g.26484529C>TCA1564368OTOFc.1150G>A (p.Asp384Asn)
c.1195G>A (p.Asp399Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484530C>ACA425207361OTOFc.1149G>T (p.Gly383=)
c.1194G>T (p.Gly398=)
2g.26484530C=CA1239831316OTOFc.1149G= (p.Gly383=)
c.1194G= (p.Gly398=)
2g.26484530C>GCA1564369OTOFc.1149G>C (p.Gly383=)
c.1194G>C (p.Gly398=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26484530C>TCA1564370OTOFc.1149G>A (p.Gly383=)
c.1194G>A (p.Gly398=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26484531C>ACA346137777OTOFc.1148G>T (p.Gly383Val)
c.1193G>T (p.Gly398Val)
2g.26484531C=CA1239831319OTOFc.1148G= (p.Gly383=)
c.1193G= (p.Gly398=)
2g.26484531C>GCA346137778OTOFc.1148G>C (p.Gly383Ala)
c.1193G>C (p.Gly398Ala)
2g.26484531C>TCA346137776OTOFc.1148G>A (p.Gly383Glu)
c.1193G>A (p.Gly398Glu)
 dbSNP gnomAD v4 COSMIC
2g.26484532C>ACA346137780OTOFc.1147G>T (p.Gly383Trp)
c.1192G>T (p.Gly398Trp)
2g.26484532C>GCA346137779OTOFc.1147G>C (p.Gly383Arg)
c.1192G>C (p.Gly398Arg)
2g.26484532C>TCA346137781OTOFc.1147G>A (p.Gly383Arg)
c.1192G>A (p.Gly398Arg)
2g.26484533T>ACA346137782OTOFc.1146A>T (p.Lys382Asn)
c.1191A>T (p.Lys397Asn)
2g.26484533T>CCA425207362OTOFc.1146A>G (p.Lys382=)
c.1191A>G (p.Lys397=)
2g.26484533T>GCA346137783OTOFc.1146A>C (p.Lys382Asn)
c.1191A>C (p.Lys397Asn)
2g.26484534T>ACA346137784OTOFc.1145A>T (p.Lys382Ile)
c.1190A>T (p.Lys397Ile)
2g.26484534T>CCA346137785OTOFc.1145A>G (p.Lys382Arg)
c.1190A>G (p.Lys397Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26484534T>GCA346137786OTOFc.1145A>C (p.Lys382Thr)
c.1190A>C (p.Lys397Thr)
2g.26484534T=CA1239831322OTOFc.1145A= (p.Lys382=)
c.1190A= (p.Lys397=)
2g.26484535T>ACA346137789OTOFc.1144A>T (p.Lys382Ter)
c.1189A>T (p.Lys397Ter)
 COSMIC
2g.26484535T>CCA346137788OTOFc.1144A>G (p.Lys382Glu)
c.1189A>G (p.Lys397Glu)
2g.26484535T>GCA346137787OTOFc.1144A>C (p.Lys382Gln)
c.1189A>C (p.Lys397Gln)
2g.26484536G>ACA425207363OTOFc.1143C>T (p.Gly381=)
c.1188C>T (p.Gly396=)
 ClinVar gnomAD v4
2g.26484536G>CCA425207364OTOFc.1143C>G (p.Gly381=)
c.1188C>G (p.Gly396=)
2g.26484536G>TCA425207365OTOFc.1143C>A (p.Gly381=)
c.1188C>A (p.Gly396=)
2g.26484537C>ACA346137790OTOFc.1142G>T (p.Gly381Val)
c.1187G>T (p.Gly396Val)
2g.26484537C=CA1239831326OTOFc.1142G= (p.Gly381=)
c.1187G= (p.Gly396=)
2g.26484537C>GCA346137791OTOFc.1142G>C (p.Gly381Ala)
c.1187G>C (p.Gly396Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.26484537C>TCA346137792OTOFc.1142G>A (p.Gly381Asp)
c.1187G>A (p.Gly396Asp)
2g.26484538C>ACA346137793OTOFc.1141G>T (p.Gly381Cys)
c.1186G>T (p.Gly396Cys)
2g.26484538C>GCA346137794OTOFc.1141G>C (p.Gly381Arg)
c.1186G>C (p.Gly396Arg)
 COSMIC
2g.26484538C>TCA346137795OTOFc.1141G>A (p.Gly381Ser)
c.1186G>A (p.Gly396Ser)
 gnomAD v4
2g.26484539C>ACA425207366OTOFc.1140G>T (p.Val380=)
c.1185G>T (p.Val395=)
2g.26484539C>GCA425207367OTOFc.1140G>C (p.Val380=)
c.1185G>C (p.Val395=)
2g.26484539C>TCA425207368OTOFc.1140G>A (p.Val380=)
c.1185G>A (p.Val395=)
2g.26484540A>CCA346137796OTOFc.1139T>G (p.Val380Gly)
c.1184T>G (p.Val395Gly)
2g.26484540A>GCA346137798OTOFc.1139T>C (p.Val380Ala)
c.1184T>C (p.Val395Ala)
2g.26484540A>TCA346137797OTOFc.1139T>A (p.Val380Glu)
c.1184T>A (p.Val395Glu)
2g.26484541C>ACA346137799OTOFc.1138G>T (p.Val380Leu)
c.1183G>T (p.Val395Leu)
2g.26484541C>GCA346137800OTOFc.1138G>C (p.Val380Leu)
c.1183G>C (p.Val395Leu)
2g.26484541C>TCA346137801OTOFc.1138G>A (p.Val380Met)
c.1183G>A (p.Val395Met)
 gnomAD v4 COSMIC
2g.26484542C>ACA425207377OTOFc.1137G>T (p.Val379=)
c.1182G>T (p.Val394=)
2g.26484542C>GCA425207375OTOFc.1137G>C (p.Val379=)
c.1182G>C (p.Val394=)
2g.26484542C>TCA425207373OTOFc.1137G>A (p.Val379=)
c.1182G>A (p.Val394=)
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

Number of alleles fetched