Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26484482G>A | CA425207322 | OTOF | c.1197C>T (p.Asp399=) c.1242C>T (p.Asp414=) | |
2 | g.26484482G>C | CA346137657 | OTOF | c.1197C>G (p.Asp399Glu) c.1242C>G (p.Asp414Glu) | |
2 | g.26484482G>T | CA346137659 | OTOF | c.1197C>A (p.Asp399Glu) c.1242C>A (p.Asp414Glu) | |
2 | g.26484483T>A | CA346137662 | OTOF | c.1196A>T (p.Asp399Val) c.1241A>T (p.Asp414Val) | |
2 | g.26484483T>C | CA346137667 | OTOF | c.1196A>G (p.Asp399Gly) c.1241A>G (p.Asp414Gly) | |
2 | g.26484483T>G | CA346137664 | OTOF | c.1196A>C (p.Asp399Ala) c.1241A>C (p.Asp414Ala) | |
2 | g.26484484C>A | CA346137669 | OTOF | c.1195G>T (p.Asp399Tyr) c.1240G>T (p.Asp414Tyr) | gnomAD v4 |
2 | g.26484484C>G | CA346137673 | OTOF | c.1195G>C (p.Asp399His) c.1240G>C (p.Asp414His) | |
2 | g.26484484C>T | CA346137672 | OTOF | c.1195G>A (p.Asp399Asn) c.1240G>A (p.Asp414Asn) | |
2 | g.26484485A= | CA1239831217 | OTOF | c.1194T= (p.Asp398=) c.1239T= (p.Asp413=) | |
2 | g.26484485A>C | CA346137674 | OTOF | c.1194T>G (p.Asp398Glu) c.1239T>G (p.Asp413Glu) | |
2 | g.26484485A>G | CA425207323 | OTOF | c.1194T>C (p.Asp398=) c.1239T>C (p.Asp413=) | |
2 | g.26484485A>T | CA142734 | OTOF | c.1194T>A (p.Asp398Glu) c.1239T>A (p.Asp413Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484486T>A | CA346137675 | OTOF | c.1193A>T (p.Asp398Val) c.1238A>T (p.Asp413Val) | |
2 | g.26484486T>C | CA346137676 | OTOF | c.1193A>G (p.Asp398Gly) c.1238A>G (p.Asp413Gly) | |
2 | g.26484486T>G | CA346137677 | OTOF | c.1193A>C (p.Asp398Ala) c.1238A>C (p.Asp413Ala) | |
2 | g.26484487C>A | CA346137678 | OTOF | c.1192G>T (p.Asp398Tyr) c.1237G>T (p.Asp413Tyr) | |
2 | g.26484487C= | CA1239831221 | OTOF | c.1192G= (p.Asp398=) c.1237G= (p.Asp413=) | |
2 | g.26484487C>G | CA346137679 | OTOF | c.1192G>C (p.Asp398His) c.1237G>C (p.Asp413His) | |
2 | g.26484487C>T | CA346137680 | OTOF | c.1192G>A (p.Asp398Asn) c.1237G>A (p.Asp413Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484488T>A | CA346137681 | OTOF | c.1191A>T (p.Glu397Asp) c.1236A>T (p.Glu412Asp) | |
2 | g.26484488T>C | CA425207324 | OTOF | c.1191A>G (p.Glu397=) c.1236A>G (p.Glu412=) | |
2 | g.26484488T>G | CA346137682 | OTOF | c.1191A>C (p.Glu397Asp) c.1236A>C (p.Glu412Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484488T= | CA1239831224 | OTOF | c.1191A= (p.Glu397=) c.1236A= (p.Glu412=) | |
2 | g.26484489T>A | CA346137683 | OTOF | c.1190A>T (p.Glu397Val) c.1235A>T (p.Glu412Val) | |
2 | g.26484489T>C | CA346137684 | OTOF | c.1190A>G (p.Glu397Gly) c.1235A>G (p.Glu412Gly) | |
2 | g.26484489T>G | CA346137685 | OTOF | c.1190A>C (p.Glu397Ala) c.1235A>C (p.Glu412Ala) | |
2 | g.26484490C>A | CA346137688 | OTOF | c.1189G>T (p.Glu397Ter) c.1234G>T (p.Glu412Ter) | |
2 | g.26484490C= | CA1239831228 | OTOF | c.1189G= (p.Glu397=) c.1234G= (p.Glu412=) | |
2 | g.26484490C>G | CA346137687 | OTOF | c.1189G>C (p.Glu397Gln) c.1234G>C (p.Glu412Gln) | |
2 | g.26484490C>T | CA346137686 | OTOF | c.1189G>A (p.Glu397Lys) c.1234G>A (p.Glu412Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484491G>A | CA1564360 | OTOF | c.1188C>T (p.Asp396=) c.1233C>T (p.Asp411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484491G>C | CA346137689 | OTOF | c.1188C>G (p.Asp396Glu) c.1233C>G (p.Asp411Glu) | |
2 | g.26484491G= | CA1239831231 | OTOF | c.1188C= (p.Asp396=) c.1233C= (p.Asp411=) | |
2 | g.26484491G>T | CA346137690 | OTOF | c.1188C>A (p.Asp396Glu) c.1233C>A (p.Asp411Glu) | dbSNP gnomAD v4 |
2 | g.26484492T>A | CA346137691 | OTOF | c.1187A>T (p.Asp396Val) c.1232A>T (p.Asp411Val) | |
2 | g.26484492T>C | CA346137692 | OTOF | c.1187A>G (p.Asp396Gly) c.1232A>G (p.Asp411Gly) | |
2 | g.26484492T>G | CA346137693 | OTOF | c.1187A>C (p.Asp396Ala) c.1232A>C (p.Asp411Ala) | |
2 | g.26484493C>A | CA346137694 | OTOF | c.1186G>T (p.Asp396Tyr) c.1231G>T (p.Asp411Tyr) | |
2 | g.26484493C= | CA1239831234 | OTOF | c.1186G= (p.Asp396=) c.1231G= (p.Asp411=) | |
2 | g.26484493C>G | CA346137695 | OTOF | c.1186G>C (p.Asp396His) c.1231G>C (p.Asp411His) | |
2 | g.26484493C>T | CA1564361 | OTOF | c.1186G>A (p.Asp396Asn) c.1231G>A (p.Asp411Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484494G>A | CA142732 | OTOF | c.1185C>T (p.Thr395=) c.1230C>T (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484494G>C | CA425207325 | OTOF | c.1185C>G (p.Thr395=) c.1230C>G (p.Thr410=) | |
2 | g.26484494G= | CA1239831241 | OTOF | c.1185C= (p.Thr395=) c.1230C= (p.Thr410=) | |
2 | g.26484494G>T | CA1564362 | OTOF | c.1185C>A (p.Thr395=) c.1230C>A (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484495G>A | CA346137698 | OTOF | c.1184C>T (p.Thr395Ile) c.1229C>T (p.Thr410Ile) | |
2 | g.26484495G>C | CA346137697 | OTOF | c.1184C>G (p.Thr395Ser) c.1229C>G (p.Thr410Ser) | gnomAD v4 |
2 | g.26484495G>T | CA346137696 | OTOF | c.1184C>A (p.Thr395Asn) c.1229C>A (p.Thr410Asn) | COSMIC |
2 | g.26484496T>A | CA346137699 | OTOF | c.1183A>T (p.Thr395Ser) c.1228A>T (p.Thr410Ser) | |
2 | g.26484496T>C | CA346137700 | OTOF | c.1183A>G (p.Thr395Ala) c.1228A>G (p.Thr410Ala) | |
2 | g.26484496T>G | CA346137701 | OTOF | c.1183A>C (p.Thr395Pro) c.1228A>C (p.Thr410Pro) | |
2 | g.26484497C>A | CA346137702 | OTOF | c.1182G>T (p.Glu394Asp) c.1227G>T (p.Glu409Asp) | |
2 | g.26484497C>G | CA346137703 | OTOF | c.1182G>C (p.Glu394Asp) c.1227G>C (p.Glu409Asp) | |
2 | g.26484497C>T | CA425207326 | OTOF | c.1182G>A (p.Glu394=) c.1227G>A (p.Glu409=) | gnomAD v4 |
2 | g.26484498T>A | CA346137704 | OTOF | c.1181A>T (p.Glu394Val) c.1226A>T (p.Glu409Val) | |
2 | g.26484498T>C | CA346137705 | OTOF | c.1181A>G (p.Glu394Gly) c.1226A>G (p.Glu409Gly) | |
2 | g.26484498T>G | CA1564363 | OTOF | c.1181A>C (p.Glu394Ala) c.1226A>C (p.Glu409Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484498T= | CA1239831249 | OTOF | c.1181A= (p.Glu394=) c.1226A= (p.Glu409=) | |
2 | g.26484499C>A | CA346137706 | OTOF | c.1180G>T (p.Glu394Ter) c.1225G>T (p.Glu409Ter) | |
2 | g.26484499C>G | CA346137707 | OTOF | c.1180G>C (p.Glu394Gln) c.1225G>C (p.Glu409Gln) | |
2 | g.26484499C>T | CA346137708 | OTOF | c.1180G>A (p.Glu394Lys) c.1225G>A (p.Glu409Lys) | |
2 | g.26484499dup | CA345085 | OTOF | c.1180dup (p.Glu394GlyfsTer6) c.1225dup (p.Glu409GlyfsTer6) | ClinVar dbSNP |
2 | g.26484500A>C | CA346137710 | OTOF | c.1179T>G (p.Asn393Lys) c.1224T>G (p.Asn408Lys) | gnomAD v4 |
2 | g.26484500A>G | CA425207327 | OTOF | c.1179T>C (p.Asn393=) c.1224T>C (p.Asn408=) | |
2 | g.26484500A>T | CA346137709 | OTOF | c.1179T>A (p.Asn393Lys) c.1224T>A (p.Asn408Lys) | |
2 | g.26484501T>A | CA346137711 | OTOF | c.1178A>T (p.Asn393Ile) c.1223A>T (p.Asn408Ile) | |
2 | g.26484501T>C | CA346137712 | OTOF | c.1178A>G (p.Asn393Ser) c.1223A>G (p.Asn408Ser) | dbSNP gnomAD v4 |
2 | g.26484501T>G | CA346137713 | OTOF | c.1178A>C (p.Asn393Thr) c.1223A>C (p.Asn408Thr) | |
2 | g.26484501T= | CA1239831260 | OTOF | c.1178A= (p.Asn393=) c.1223A= (p.Asn408=) | |
2 | g.26484502T>A | CA346137714 | OTOF | c.1177A>T (p.Asn393Tyr) c.1222A>T (p.Asn408Tyr) | |
2 | g.26484502T>C | CA346137715 | OTOF | c.1177A>G (p.Asn393Asp) c.1222A>G (p.Asn408Asp) | |
2 | g.26484502T>G | CA346137716 | OTOF | c.1177A>C (p.Asn393His) c.1222A>C (p.Asn408His) | |
2 | g.26484503G>A | CA425207328 | OTOF | c.1176C>T (p.Ala392=) c.1221C>T (p.Ala407=) | ClinVar dbSNP |
2 | g.26484503G>C | CA425207329 | OTOF | c.1176C>G (p.Ala392=) c.1221C>G (p.Ala407=) | |
2 | g.26484503G= | CA1239831262 | OTOF | c.1176C= (p.Ala392=) c.1221C= (p.Ala407=) | |
2 | g.26484503G>T | CA425207330 | OTOF | c.1176C>A (p.Ala392=) c.1221C>A (p.Ala407=) | |
2 | g.26484504G>A | CA346137717 | OTOF | c.1175C>T (p.Ala392Val) c.1220C>T (p.Ala407Val) | |
2 | g.26484504G>C | CA346137718 | OTOF | c.1175C>G (p.Ala392Gly) c.1220C>G (p.Ala407Gly) | |
2 | g.26484504G>T | CA346137719 | OTOF | c.1175C>A (p.Ala392Asp) c.1220C>A (p.Ala407Asp) | |
2 | g.26484505C>A | CA346137720 | OTOF | c.1174G>T (p.Ala392Ser) c.1219G>T (p.Ala407Ser) | |
2 | g.26484505C>G | CA346137721 | OTOF | c.1174G>C (p.Ala392Pro) c.1219G>C (p.Ala407Pro) | |
2 | g.26484505C>T | CA346137722 | OTOF | c.1174G>A (p.Ala392Thr) c.1219G>A (p.Ala407Thr) | |
2 | g.26484506C>A | CA346137724 | OTOF | c.1173G>T (p.Lys391Asn) c.1218G>T (p.Lys406Asn) | |
2 | g.26484506C>G | CA346137723 | OTOF | c.1173G>C (p.Lys391Asn) c.1218G>C (p.Lys406Asn) | |
2 | g.26484506C>T | CA425207331 | OTOF | c.1173G>A (p.Lys391=) c.1218G>A (p.Lys406=) | |
2 | g.26484506_26484507delinsCT | CA1239831267 | OTOF | c.1172_1173delinsAG (p.Lys391=) c.1217_1218delinsAG (p.Lys406=) | |
2 | g.26484507T>A | CA346137725 | OTOF | c.1172A>T (p.Lys391Met) c.1217A>T (p.Lys406Met) | |
2 | g.26484507T>C | CA1564364 | OTOF | c.1172A>G (p.Lys391Arg) c.1217A>G (p.Lys406Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484507T>G | CA346137726 | OTOF | c.1172A>C (p.Lys391Thr) c.1217A>C (p.Lys406Thr) | |
2 | g.26484507T= | CA1239831276 | OTOF | c.1172A= (p.Lys391=) c.1217A= (p.Lys406=) | |
2 | g.26484508del | CA269913 | OTOF | c.1172del (p.Lys391ArgfsTer?) c.1217del (p.Lys406ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484508T>A | CA346137727 | OTOF | c.1171A>T (p.Lys391Ter) c.1216A>T (p.Lys406Ter) | |
2 | g.26484508T>C | CA346137728 | OTOF | c.1171A>G (p.Lys391Glu) c.1216A>G (p.Lys406Glu) | |
2 | g.26484508T>G | CA346137729 | OTOF | c.1171A>C (p.Lys391Gln) c.1216A>C (p.Lys406Gln) | |
2 | g.26484509G>A | CA425207332 | OTOF | c.1170C>T (p.His390=) c.1215C>T (p.His405=) | |
2 | g.26484509G>C | CA44403048 | OTOF | c.1170C>G (p.His390Gln) c.1215C>G (p.His405Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484509G= | CA1239831280 | OTOF | c.1170C= (p.His390=) c.1215C= (p.His405=) | |
2 | g.26484509G>T | CA346137730 | OTOF | c.1170C>A (p.His390Gln) c.1215C>A (p.His405Gln) | |
2 | g.26484510T>A | CA346137731 | OTOF | c.1169A>T (p.His390Leu) c.1214A>T (p.His405Leu) | |
2 | g.26484510T>C | CA346137732 | OTOF | c.1169A>G (p.His390Arg) c.1214A>G (p.His405Arg) | |
2 | g.26484510T>G | CA346137733 | OTOF | c.1169A>C (p.His390Pro) c.1214A>C (p.His405Pro) | |
2 | g.26484511G>A | CA346137734 | OTOF | c.1168C>T (p.His390Tyr) c.1213C>T (p.His405Tyr) | |
2 | g.26484511G>C | CA346137735 | OTOF | c.1168C>G (p.His390Asp) c.1213C>G (p.His405Asp) | |
2 | g.26484511G>T | CA346137736 | OTOF | c.1168C>A (p.His390Asn) c.1213C>A (p.His405Asn) | |
2 | g.26484512G>A | CA425207333 | OTOF | c.1167C>T (p.Pro389=) c.1212C>T (p.Pro404=) | |
2 | g.26484512G>C | CA425207334 | OTOF | c.1167C>G (p.Pro389=) c.1212C>G (p.Pro404=) | |
2 | g.26484512G>T | CA425207336 | OTOF | c.1167C>A (p.Pro389=) c.1212C>A (p.Pro404=) | |
2 | g.26484513G>A | CA346137739 | OTOF | c.1166C>T (p.Pro389Leu) c.1211C>T (p.Pro404Leu) | |
2 | g.26484513G>C | CA346137737 | OTOF | c.1166C>G (p.Pro389Arg) c.1211C>G (p.Pro404Arg) | |
2 | g.26484513G>T | CA346137738 | OTOF | c.1166C>A (p.Pro389His) c.1211C>A (p.Pro404His) | |
2 | g.26484514G>A | CA346137740 | OTOF | c.1165C>T (p.Pro389Ser) c.1210C>T (p.Pro404Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484514G>C | CA346137741 | OTOF | c.1165C>G (p.Pro389Ala) c.1210C>G (p.Pro404Ala) | gnomAD v4 |
2 | g.26484514G= | CA1239831283 | OTOF | c.1165C= (p.Pro389=) c.1210C= (p.Pro404=) | |
2 | g.26484514G>T | CA346137742 | OTOF | c.1165C>A (p.Pro389Thr) c.1210C>A (p.Pro404Thr) | |
2 | g.26484515C>A | CA425207338 | OTOF | c.1164G>T (p.Thr388=) c.1209G>T (p.Thr403=) | dbSNP |
2 | g.26484515C= | CA1239831285 | OTOF | c.1164G= (p.Thr388=) c.1209G= (p.Thr403=) | |
2 | g.26484515C>G | CA425207339 | OTOF | c.1164G>C (p.Thr388=) c.1209G>C (p.Thr403=) | |
2 | g.26484515C>T | CA425207340 | OTOF | c.1164G>A (p.Thr388=) c.1209G>A (p.Thr403=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484516G>A | CA1564365 | OTOF | c.1163C>T (p.Thr388Met) c.1208C>T (p.Thr403Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26484516G>C | CA346137743 | OTOF | c.1163C>G (p.Thr388Arg) c.1208C>G (p.Thr403Arg) | |
2 | g.26484516G= | CA1239831290 | OTOF | c.1163C= (p.Thr388=) c.1208C= (p.Thr403=) | |
2 | g.26484516G>T | CA346137744 | OTOF | c.1163C>A (p.Thr388Lys) c.1208C>A (p.Thr403Lys) | |
2 | g.26484517T>A | CA346137745 | OTOF | c.1162A>T (p.Thr388Ser) c.1207A>T (p.Thr403Ser) | |
2 | g.26484517T>C | CA346137746 | OTOF | c.1162A>G (p.Thr388Ala) c.1207A>G (p.Thr403Ala) | |
2 | g.26484517T>G | CA346137748 | OTOF | c.1162A>C (p.Thr388Pro) c.1207A>C (p.Thr403Pro) | |
2 | g.26484518C>A | CA346137749 | OTOF | c.1161G>T (p.Lys387Asn) c.1206G>T (p.Lys402Asn) | |
2 | g.26484518C>G | CA346137750 | OTOF | c.1161G>C (p.Lys387Asn) c.1206G>C (p.Lys402Asn) | dbSNP |
2 | g.26484518C>T | CA425207344 | OTOF | c.1161G>A (p.Lys387=) c.1206G>A (p.Lys402=) | |
2 | g.26484519T>A | CA346137753 | OTOF | c.1160A>T (p.Lys387Met) c.1205A>T (p.Lys402Met) | |
2 | g.26484519T>C | CA346137752 | OTOF | c.1160A>G (p.Lys387Arg) c.1205A>G (p.Lys402Arg) | |
2 | g.26484519T>G | CA346137751 | OTOF | c.1160A>C (p.Lys387Thr) c.1205A>C (p.Lys402Thr) | |
2 | g.26484520T>A | CA346137754 | OTOF | c.1159A>T (p.Lys387Ter) c.1204A>T (p.Lys402Ter) | |
2 | g.26484520T>C | CA346137755 | OTOF | c.1159A>G (p.Lys387Glu) c.1204A>G (p.Lys402Glu) | |
2 | g.26484520T>G | CA346137756 | OTOF | c.1159A>C (p.Lys387Gln) c.1204A>C (p.Lys402Gln) | |
2 | g.26484521G>A | CA425207349 | OTOF | c.1158C>T (p.Ile386=) c.1203C>T (p.Ile401=) | |
2 | g.26484521G>C | CA44403049 | OTOF | c.1158C>G (p.Ile386Met) c.1203C>G (p.Ile401Met) | dbSNP gnomAD v4 |
2 | g.26484521G= | CA1239831293 | OTOF | c.1158C= (p.Ile386=) c.1203C= (p.Ile401=) | |
2 | g.26484521G>T | CA425207350 | OTOF | c.1158C>A (p.Ile386=) c.1203C>A (p.Ile401=) | COSMIC |
2 | g.26484522A= | CA1239831296 | OTOF | c.1157T= (p.Ile386=) c.1202T= (p.Ile401=) | |
2 | g.26484522A>C | CA346137757 | OTOF | c.1157T>G (p.Ile386Ser) c.1202T>G (p.Ile401Ser) | |
2 | g.26484522A>G | CA1564366 | OTOF | c.1157T>C (p.Ile386Thr) c.1202T>C (p.Ile401Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484522A>T | CA346137758 | OTOF | c.1157T>A (p.Ile386Asn) c.1202T>A (p.Ile401Asn) | |
2 | g.26484523T>A | CA346137759 | OTOF | c.1156A>T (p.Ile386Phe) c.1201A>T (p.Ile401Phe) | |
2 | g.26484523T>C | CA346137760 | OTOF | c.1156A>G (p.Ile386Val) c.1201A>G (p.Ile401Val) | |
2 | g.26484523T>G | CA346137761 | OTOF | c.1156A>C (p.Ile386Leu) c.1201A>C (p.Ile401Leu) | |
2 | g.26484524G>A | CA425207352 | OTOF | c.1155C>T (p.Asn385=) c.1200C>T (p.Asn400=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484524G>C | CA346137762 | OTOF | c.1155C>G (p.Asn385Lys) c.1200C>G (p.Asn400Lys) | |
2 | g.26484524G= | CA1239831300 | OTOF | c.1155C= (p.Asn385=) c.1200C= (p.Asn400=) | |
2 | g.26484524G>T | CA346137763 | OTOF | c.1155C>A (p.Asn385Lys) c.1200C>A (p.Asn400Lys) | |
2 | g.26484525T>A | CA346137766 | OTOF | c.1154A>T (p.Asn385Ile) c.1199A>T (p.Asn400Ile) | |
2 | g.26484525T>C | CA346137765 | OTOF | c.1154A>G (p.Asn385Ser) c.1199A>G (p.Asn400Ser) | |
2 | g.26484525T>G | CA346137764 | OTOF | c.1154A>C (p.Asn385Thr) c.1199A>C (p.Asn400Thr) | |
2 | g.26484526T>A | CA346137767 | OTOF | c.1153A>T (p.Asn385Tyr) c.1198A>T (p.Asn400Tyr) | |
2 | g.26484526T>C | CA1564367 | OTOF | c.1153A>G (p.Asn385Asp) c.1198A>G (p.Asn400Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484526T>G | CA346137768 | OTOF | c.1153A>C (p.Asn385His) c.1198A>C (p.Asn400His) | |
2 | g.26484526T= | CA1239831305 | OTOF | c.1153A= (p.Asn385=) c.1198A= (p.Asn400=) | |
2 | g.26484527G>A | CA425207356 | OTOF | c.1152C>T (p.Asp384=) c.1197C>T (p.Asp399=) | |
2 | g.26484527G>C | CA346137769 | OTOF | c.1152C>G (p.Asp384Glu) c.1197C>G (p.Asp399Glu) | |
2 | g.26484527G= | CA1239831308 | OTOF | c.1152C= (p.Asp384=) c.1197C= (p.Asp399=) | |
2 | g.26484527G>T | CA346137770 | OTOF | c.1152C>A (p.Asp384Glu) c.1197C>A (p.Asp399Glu) | dbSNP |
2 | g.26484528T>A | CA346137771 | OTOF | c.1151A>T (p.Asp384Val) c.1196A>T (p.Asp399Val) | |
2 | g.26484528T>C | CA346137772 | OTOF | c.1151A>G (p.Asp384Gly) c.1196A>G (p.Asp399Gly) | |
2 | g.26484528T>G | CA346137773 | OTOF | c.1151A>C (p.Asp384Ala) c.1196A>C (p.Asp399Ala) | |
2 | g.26484529C>A | CA346137774 | OTOF | c.1150G>T (p.Asp384Tyr) c.1195G>T (p.Asp399Tyr) | |
2 | g.26484529C= | CA1239831311 | OTOF | c.1150G= (p.Asp384=) c.1195G= (p.Asp399=) | |
2 | g.26484529C>G | CA346137775 | OTOF | c.1150G>C (p.Asp384His) c.1195G>C (p.Asp399His) | |
2 | g.26484529C>T | CA1564368 | OTOF | c.1150G>A (p.Asp384Asn) c.1195G>A (p.Asp399Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484530C>A | CA425207361 | OTOF | c.1149G>T (p.Gly383=) c.1194G>T (p.Gly398=) | |
2 | g.26484530C= | CA1239831316 | OTOF | c.1149G= (p.Gly383=) c.1194G= (p.Gly398=) | |
2 | g.26484530C>G | CA1564369 | OTOF | c.1149G>C (p.Gly383=) c.1194G>C (p.Gly398=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484530C>T | CA1564370 | OTOF | c.1149G>A (p.Gly383=) c.1194G>A (p.Gly398=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484531C>A | CA346137777 | OTOF | c.1148G>T (p.Gly383Val) c.1193G>T (p.Gly398Val) | |
2 | g.26484531C= | CA1239831319 | OTOF | c.1148G= (p.Gly383=) c.1193G= (p.Gly398=) | |
2 | g.26484531C>G | CA346137778 | OTOF | c.1148G>C (p.Gly383Ala) c.1193G>C (p.Gly398Ala) | |
2 | g.26484531C>T | CA346137776 | OTOF | c.1148G>A (p.Gly383Glu) c.1193G>A (p.Gly398Glu) | dbSNP gnomAD v4 COSMIC |
2 | g.26484532C>A | CA346137780 | OTOF | c.1147G>T (p.Gly383Trp) c.1192G>T (p.Gly398Trp) | |
2 | g.26484532C>G | CA346137779 | OTOF | c.1147G>C (p.Gly383Arg) c.1192G>C (p.Gly398Arg) | |
2 | g.26484532C>T | CA346137781 | OTOF | c.1147G>A (p.Gly383Arg) c.1192G>A (p.Gly398Arg) | |
2 | g.26484533T>A | CA346137782 | OTOF | c.1146A>T (p.Lys382Asn) c.1191A>T (p.Lys397Asn) | |
2 | g.26484533T>C | CA425207362 | OTOF | c.1146A>G (p.Lys382=) c.1191A>G (p.Lys397=) | |
2 | g.26484533T>G | CA346137783 | OTOF | c.1146A>C (p.Lys382Asn) c.1191A>C (p.Lys397Asn) | |
2 | g.26484534T>A | CA346137784 | OTOF | c.1145A>T (p.Lys382Ile) c.1190A>T (p.Lys397Ile) | |
2 | g.26484534T>C | CA346137785 | OTOF | c.1145A>G (p.Lys382Arg) c.1190A>G (p.Lys397Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484534T>G | CA346137786 | OTOF | c.1145A>C (p.Lys382Thr) c.1190A>C (p.Lys397Thr) | |
2 | g.26484534T= | CA1239831322 | OTOF | c.1145A= (p.Lys382=) c.1190A= (p.Lys397=) | |
2 | g.26484535T>A | CA346137789 | OTOF | c.1144A>T (p.Lys382Ter) c.1189A>T (p.Lys397Ter) | COSMIC |
2 | g.26484535T>C | CA346137788 | OTOF | c.1144A>G (p.Lys382Glu) c.1189A>G (p.Lys397Glu) | |
2 | g.26484535T>G | CA346137787 | OTOF | c.1144A>C (p.Lys382Gln) c.1189A>C (p.Lys397Gln) | |
2 | g.26484536G>A | CA425207363 | OTOF | c.1143C>T (p.Gly381=) c.1188C>T (p.Gly396=) | ClinVar gnomAD v4 |
2 | g.26484536G>C | CA425207364 | OTOF | c.1143C>G (p.Gly381=) c.1188C>G (p.Gly396=) | |
2 | g.26484536G>T | CA425207365 | OTOF | c.1143C>A (p.Gly381=) c.1188C>A (p.Gly396=) | |
2 | g.26484537C>A | CA346137790 | OTOF | c.1142G>T (p.Gly381Val) c.1187G>T (p.Gly396Val) | |
2 | g.26484537C= | CA1239831326 | OTOF | c.1142G= (p.Gly381=) c.1187G= (p.Gly396=) | |
2 | g.26484537C>G | CA346137791 | OTOF | c.1142G>C (p.Gly381Ala) c.1187G>C (p.Gly396Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484537C>T | CA346137792 | OTOF | c.1142G>A (p.Gly381Asp) c.1187G>A (p.Gly396Asp) | |
2 | g.26484538C>A | CA346137793 | OTOF | c.1141G>T (p.Gly381Cys) c.1186G>T (p.Gly396Cys) | |
2 | g.26484538C>G | CA346137794 | OTOF | c.1141G>C (p.Gly381Arg) c.1186G>C (p.Gly396Arg) | COSMIC |
2 | g.26484538C>T | CA346137795 | OTOF | c.1141G>A (p.Gly381Ser) c.1186G>A (p.Gly396Ser) | gnomAD v4 |
2 | g.26484539C>A | CA425207366 | OTOF | c.1140G>T (p.Val380=) c.1185G>T (p.Val395=) | |
2 | g.26484539C>G | CA425207367 | OTOF | c.1140G>C (p.Val380=) c.1185G>C (p.Val395=) | |
2 | g.26484539C>T | CA425207368 | OTOF | c.1140G>A (p.Val380=) c.1185G>A (p.Val395=) | |
2 | g.26484540A>C | CA346137796 | OTOF | c.1139T>G (p.Val380Gly) c.1184T>G (p.Val395Gly) | |
2 | g.26484540A>G | CA346137798 | OTOF | c.1139T>C (p.Val380Ala) c.1184T>C (p.Val395Ala) | |
2 | g.26484540A>T | CA346137797 | OTOF | c.1139T>A (p.Val380Glu) c.1184T>A (p.Val395Glu) | |
2 | g.26484541C>A | CA346137799 | OTOF | c.1138G>T (p.Val380Leu) c.1183G>T (p.Val395Leu) | |
2 | g.26484541C>G | CA346137800 | OTOF | c.1138G>C (p.Val380Leu) c.1183G>C (p.Val395Leu) | |
2 | g.26484541C>T | CA346137801 | OTOF | c.1138G>A (p.Val380Met) c.1183G>A (p.Val395Met) | gnomAD v4 COSMIC |
2 | g.26484542C>A | CA425207377 | OTOF | c.1137G>T (p.Val379=) c.1182G>T (p.Val394=) | |
2 | g.26484542C>G | CA425207375 | OTOF | c.1137G>C (p.Val379=) c.1182G>C (p.Val394=) | |
2 | g.26484542C>T | CA425207373 | OTOF | c.1137G>A (p.Val379=) c.1182G>A (p.Val394=) | |
2 | g.26484543A>C | CA346137802 | OTOF | c.1136T>G (p.Val379Gly) c.1181T>G (p.Val394Gly) | |
2 | g.26484543A>G | CA346137803 | OTOF | c.1136T>C (p.Val379Ala) c.1181T>C (p.Val394Ala) | |
2 | g.26484543A>T | CA346137804 | OTOF | c.1136T>A (p.Val379Glu) c.1181T>A (p.Val394Glu) | |
2 | g.26484544C>A | CA346137805 | OTOF | c.1135G>T (p.Val379Leu) c.1180G>T (p.Val394Leu) | |
2 | g.26484544C= | CA1239831330 | OTOF | c.1135G= (p.Val379=) c.1180G= (p.Val394=) | |
2 | g.26484544C>G | CA346137806 | OTOF | c.1135G>C (p.Val379Leu) c.1180G>C (p.Val394Leu) | |
2 | g.26484544C>T | CA1564371 | OTOF | c.1135G>A (p.Val379Met) c.1180G>A (p.Val394Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26484545G>A | CA1564372 | OTOF | c.1134C>T (p.Ala378=) c.1179C>T (p.Ala393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26484545G>C | CA425207379 | OTOF | c.1134C>G (p.Ala378=) c.1179C>G (p.Ala393=) | |
2 | g.26484545G= | CA1239831334 | OTOF | c.1134C= (p.Ala378=) c.1179C= (p.Ala393=) | |
2 | g.26484545G>T | CA425207380 | OTOF | c.1134C>A (p.Ala378=) c.1179C>A (p.Ala393=) | |
2 | g.26484546G>A | CA346137809 | OTOF | c.1133C>T (p.Ala378Val) c.1178C>T (p.Ala393Val) | |
2 | g.26484546G>C | CA346137808 | OTOF | c.1133C>G (p.Ala378Gly) c.1178C>G (p.Ala393Gly) | |
2 | g.26484546G>T | CA346137807 | OTOF | c.1133C>A (p.Ala378Asp) c.1178C>A (p.Ala393Asp) | |
2 | g.26484547C>A | CA346137810 | OTOF | c.1132G>T (p.Ala378Ser) c.1177G>T (p.Ala393Ser) | |
2 | g.26484547C>G | CA346137811 | OTOF | c.1132G>C (p.Ala378Pro) c.1177G>C (p.Ala393Pro) | |
2 | g.26484547C>T | CA346137812 | OTOF | c.1132G>A (p.Ala378Thr) c.1177G>A (p.Ala393Thr) | |
2 | g.26484548A>C | CA425207384 | OTOF | c.1131T>G (p.Val377=) c.1176T>G (p.Val392=) | |
2 | g.26484548A>G | CA425207385 | OTOF | c.1131T>C (p.Val377=) c.1176T>C (p.Val392=) | |
2 | g.26484548A>T | CA425207386 | OTOF | c.1131T>A (p.Val377=) c.1176T>A (p.Val392=) | |
2 | g.26484549A>C | CA346137813 | OTOF | c.1130T>G (p.Val377Gly) c.1175T>G (p.Val392Gly) | |
2 | g.26484549A>G | CA346137814 | OTOF | c.1130T>C (p.Val377Ala) c.1175T>C (p.Val392Ala) | |
2 | g.26484549A>T | CA346137815 | OTOF | c.1130T>A (p.Val377Asp) c.1175T>A (p.Val392Asp) | |
2 | g.26484550C>A | CA346137816 | OTOF | c.1129G>T (p.Val377Phe) c.1174G>T (p.Val392Phe) | |
2 | g.26484550C= | CA1239831337 | OTOF | c.1129G= (p.Val377=) c.1174G= (p.Val392=) | |
2 | g.26484550C>G | CA346137817 | OTOF | c.1129G>C (p.Val377Leu) c.1174G>C (p.Val392Leu) | |
2 | g.26484550C>T | CA1564373 | OTOF | c.1129G>A (p.Val377Ile) c.1174G>A (p.Val392Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26484551G>A | CA1564374 | OTOF | c.1128C>T (p.Asp376=) c.1173C>T (p.Asp391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484551G>C | CA346137818 | OTOF | c.1128C>G (p.Asp376Glu) c.1173C>G (p.Asp391Glu) | |
2 | g.26484551G= | CA1239831338 | OTOF | c.1128C= (p.Asp376=) c.1173C= (p.Asp391=) | |
2 | g.26484551G>T | CA346137819 | OTOF | c.1128C>A (p.Asp376Glu) c.1173C>A (p.Asp391Glu) | dbSNP |
2 | g.26484552T>A | CA346137821 | OTOF | c.1127A>T (p.Asp376Val) c.1172A>T (p.Asp391Val) | |
2 | g.26484552T>C | CA346137822 | OTOF | c.1127A>G (p.Asp376Gly) c.1172A>G (p.Asp391Gly) | |
2 | g.26484552T>G | CA346137820 | OTOF | c.1127A>C (p.Asp376Ala) c.1172A>C (p.Asp391Ala) | |
2 | g.26484553C>A | CA346137823 | OTOF | c.1126G>T (p.Asp376Tyr) c.1171G>T (p.Asp391Tyr) | |
2 | g.26484553C= | CA1239831340 | OTOF | c.1126G= (p.Asp376=) c.1171G= (p.Asp391=) | |
2 | g.26484553C>G | CA346137824 | OTOF | c.1126G>C (p.Asp376His) c.1171G>C (p.Asp391His) | |
2 | g.26484553C>T | CA1564375 | OTOF | c.1126G>A (p.Asp376Asn) c.1171G>A (p.Asp391Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484554A>C | CA346137825 | OTOF | c.1125T>G (p.Cys375Trp) c.1170T>G (p.Cys390Trp) | |
2 | g.26484554A>G | CA425207392 | OTOF | c.1125T>C (p.Cys375=) c.1170T>C (p.Cys390=) | |
2 | g.26484554A>T | CA346137826 | OTOF | c.1125T>A (p.Cys375Ter) c.1170T>A (p.Cys390Ter) | |
2 | g.26484555C>A | CA346137829 | OTOF | c.1124G>T (p.Cys375Phe) c.1169G>T (p.Cys390Phe) | |
2 | g.26484555C>G | CA346137827 | OTOF | c.1124G>C (p.Cys375Ser) c.1169G>C (p.Cys390Ser) | |
2 | g.26484555C>T | CA346137828 | OTOF | c.1124G>A (p.Cys375Tyr) c.1169G>A (p.Cys390Tyr) | |
2 | g.26484556A>C | CA346137830 | OTOF | c.1123T>G (p.Cys375Gly) c.1168T>G (p.Cys390Gly) | gnomAD v4 |
2 | g.26484556A>G | CA346137831 | OTOF | c.1123T>C (p.Cys375Arg) c.1168T>C (p.Cys390Arg) | |
2 | g.26484556A>T | CA346137832 | OTOF | c.1123T>A (p.Cys375Ser) c.1168T>A (p.Cys390Ser) | |
2 | g.26484557C>A | CA346137833 | OTOF | c.1122G>T (p.Lys374Asn) c.1167G>T (p.Lys389Asn) | |
2 | g.26484557C>G | CA346137834 | OTOF | c.1122G>C (p.Lys374Asn) c.1167G>C (p.Lys389Asn) | |
2 | g.26484557C>T | CA425207396 | OTOF | c.1122G>A (p.Lys374=) c.1167G>A (p.Lys389=) | |
2 | g.26484558T>A | CA346137837 | OTOF | c.1121A>T (p.Lys374Met) c.1166A>T (p.Lys389Met) | |
2 | g.26484558T>C | CA346137836 | OTOF | c.1121A>G (p.Lys374Arg) c.1166A>G (p.Lys389Arg) | |
2 | g.26484558T>G | CA346137835 | OTOF | c.1121A>C (p.Lys374Thr) c.1166A>C (p.Lys389Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484558T= | CA1239831342 | OTOF | c.1121A= (p.Lys374=) c.1166A= (p.Lys389=) | |
2 | g.26484559T>A | CA346137838 | OTOF | c.1120A>T (p.Lys374Ter) c.1165A>T (p.Lys389Ter) | |
2 | g.26484559T>C | CA346137840 | OTOF | c.1120A>G (p.Lys374Glu) c.1165A>G (p.Lys389Glu) | |
2 | g.26484559T>G | CA346137839 | OTOF | c.1120A>C (p.Lys374Gln) c.1165A>C (p.Lys389Gln) | |
2 | g.26484560C>A | CA425207400 | OTOF | c.1119G>T (p.Val373=) c.1164G>T (p.Val388=) | |
2 | g.26484560C>G | CA425207402 | OTOF | c.1119G>C (p.Val373=) c.1164G>C (p.Val388=) | |
2 | g.26484560C>T | CA425207405 | OTOF | c.1119G>A (p.Val373=) c.1164G>A (p.Val388=) | |
2 | g.26484561A>C | CA346137841 | OTOF | c.1118T>G (p.Val373Gly) c.1163T>G (p.Val388Gly) | |
2 | g.26484561A>G | CA346137842 | OTOF | c.1118T>C (p.Val373Ala) c.1163T>C (p.Val388Ala) | gnomAD v4 |
2 | g.26484561A>T | CA346137843 | OTOF | c.1118T>A (p.Val373Glu) c.1163T>A (p.Val388Glu) | |
2 | g.26484562C>A | CA346137844 | OTOF | c.1117G>T (p.Val373Leu) c.1162G>T (p.Val388Leu) | COSMIC |
2 | g.26484562C= | CA1239831349 | OTOF | c.1117G= (p.Val373=) c.1162G= (p.Val388=) | |
2 | g.26484562C>G | CA346137845 | OTOF | c.1117G>C (p.Val373Leu) c.1162G>C (p.Val388Leu) | |
2 | g.26484562C>T | CA1564376 | OTOF | c.1117G>A (p.Val373Met) c.1162G>A (p.Val388Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484563G>A | CA142730 | OTOF | c.1116C>T (p.Tyr372=) c.1161C>T (p.Tyr387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484563G>C | CA346137846 | OTOF | c.1116C>G (p.Tyr372Ter) c.1161C>G (p.Tyr387Ter) | |
2 | g.26484563G= | CA1239831361 | OTOF | c.1116C= (p.Tyr372=) c.1161C= (p.Tyr387=) | |
2 | g.26484563G>T | CA346137847 | OTOF | c.1116C>A (p.Tyr372Ter) c.1161C>A (p.Tyr387Ter) | |
2 | g.26484564T>A | CA346137848 | OTOF | c.1115A>T (p.Tyr372Phe) c.1160A>T (p.Tyr387Phe) | |
2 | g.26484564T>C | CA346137849 | OTOF | c.1115A>G (p.Tyr372Cys) c.1160A>G (p.Tyr387Cys) | |
2 | g.26484564T>G | CA346137850 | OTOF | c.1115A>C (p.Tyr372Ser) c.1160A>C (p.Tyr387Ser) | |
2 | g.26484565A= | CA1239831367 | OTOF | c.1114T= (p.Tyr372=) c.1159T= (p.Tyr387=) | |
2 | g.26484565A>C | CA346137852 | OTOF | c.1114T>G (p.Tyr372Asp) c.1159T>G (p.Tyr387Asp) | |
2 | g.26484565A>G | CA1564377 | OTOF | c.1114T>C (p.Tyr372His) c.1159T>C (p.Tyr387His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484565A>T | CA346137851 | OTOF | c.1114T>A (p.Tyr372Asn) c.1159T>A (p.Tyr387Asn) | |
2 | g.26484566G>A | CA425207411 | OTOF | c.1113C>T (p.Gly371=) c.1158C>T (p.Gly386=) | gnomAD v4 |
2 | g.26484566G>C | CA425207412 | OTOF | c.1113C>G (p.Gly371=) c.1158C>G (p.Gly386=) | |
2 | g.26484566G>T | CA425207413 | OTOF | c.1113C>A (p.Gly371=) c.1158C>A (p.Gly386=) | |
2 | g.26484567C>A | CA346137853 | OTOF | c.1112G>T (p.Gly371Val) c.1157G>T (p.Gly386Val) | |
2 | g.26484567C>G | CA346137854 | OTOF | c.1112G>C (p.Gly371Ala) c.1157G>C (p.Gly386Ala) | |
2 | g.26484567C>T | CA346137855 | OTOF | c.1112G>A (p.Gly371Asp) c.1157G>A (p.Gly386Asp) | |
2 | g.26484568C>A | CA346137856 | OTOF | c.1111G>T (p.Gly371Cys) c.1156G>T (p.Gly386Cys) | |
2 | g.26484568C= | CA1239831372 | OTOF | c.1111G= (p.Gly371=) c.1156G= (p.Gly386=) | |
2 | g.26484568C>G | CA10585888 | OTOF | c.1111G>C (p.Gly371Arg) c.1156G>C (p.Gly386Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.26484568C>T | CA346137857 | OTOF | c.1111G>A (p.Gly371Ser) c.1156G>A (p.Gly386Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484569C>A | CA346137858 | OTOF | c.1110G>T (p.Lys370Asn) c.1155G>T (p.Lys385Asn) | |
2 | g.26484569C>G | CA346137859 | OTOF | c.1110G>C (p.Lys370Asn) c.1155G>C (p.Lys385Asn) | |
2 | g.26484569C>T | CA425207418 | OTOF | c.1110G>A (p.Lys370=) c.1155G>A (p.Lys385=) | |
2 | g.26484570T>A | CA346137860 | OTOF | c.1109A>T (p.Lys370Met) c.1154A>T (p.Lys385Met) | |
2 | g.26484570T>C | CA346137861 | OTOF | c.1109A>G (p.Lys370Arg) c.1154A>G (p.Lys385Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484570T>G | CA346137862 | OTOF | c.1109A>C (p.Lys370Thr) c.1154A>C (p.Lys385Thr) | gnomAD v4 |
2 | g.26484570T= | CA1239831379 | OTOF | c.1109A= (p.Lys370=) c.1154A= (p.Lys385=) | |
2 | g.26484571T>A | CA346137864 | OTOF | c.1108A>T (p.Lys370Ter) c.1153A>T (p.Lys385Ter) | |
2 | g.26484571T>C | CA346137865 | OTOF | c.1108A>G (p.Lys370Glu) c.1153A>G (p.Lys385Glu) | gnomAD v4 |
2 | g.26484571T>G | CA346137863 | OTOF | c.1108A>C (p.Lys370Gln) c.1153A>C (p.Lys385Gln) | dbSNP |
2 | g.26484571T= | CA1239831384 | OTOF | c.1108A= (p.Lys370=) c.1153A= (p.Lys385=) | |
2 | g.26484572C>A | CA425207425 | OTOF | c.1107G>T (p.Leu369=) c.1152G>T (p.Leu384=) | |
2 | g.26484572C>G | CA425207426 | OTOF | c.1107G>C (p.Leu369=) c.1152G>C (p.Leu384=) | |
2 | g.26484572C>T | CA425207427 | OTOF | c.1107G>A (p.Leu369=) c.1152G>A (p.Leu384=) | |
2 | g.26484573A>C | CA346137866 | OTOF | c.1106T>G (p.Leu369Arg) c.1151T>G (p.Leu384Arg) | |
2 | g.26484573A>G | CA346137867 | OTOF | c.1106T>C (p.Leu369Pro) c.1151T>C (p.Leu384Pro) | |
2 | g.26484573A>T | CA346137868 | OTOF | c.1106T>A (p.Leu369Gln) c.1151T>A (p.Leu384Gln) | |
2 | g.26484574G>A | CA425207431 | OTOF | c.1105C>T (p.Leu369=) c.1150C>T (p.Leu384=) | |
2 | g.26484574G>C | CA346137869 | OTOF | c.1105C>G (p.Leu369Val) c.1150C>G (p.Leu384Val) | |
2 | g.26484574G= | CA1239831392 | OTOF | c.1105C= (p.Leu369=) c.1150C= (p.Leu384=) | |
2 | g.26484574G>T | CA44403124 | OTOF | c.1105C>A (p.Leu369Met) c.1150C>A (p.Leu384Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484574_26484576delinsGCC | CA1239831389 | OTOF | c.1103_1105delinsGGC (p.Gly368=) c.1148_1150delinsGGC (p.Gly383=) | |
2 | g.26484575C>A | CA425207433 | OTOF | c.1104G>T (p.Gly368=) c.1149G>T (p.Gly383=) | gnomAD v4 |
2 | g.26484575C>G | CA425207434 | OTOF | c.1104G>C (p.Gly368=) c.1149G>C (p.Gly383=) | |
2 | g.26484575C>T | CA425207435 | OTOF | c.1104G>A (p.Gly368=) c.1149G>A (p.Gly383=) | |
2 | g.26484575_26484576delinsG | CA345084 | OTOF | c.1103_1104delinsC (p.Gly368AlafsTer2) c.1148_1149delinsC (p.Gly383AlafsTer2) | ClinVar dbSNP |
2 | g.26484576C>A | CA346137870 | OTOF | c.1103G>T (p.Gly368Val) c.1148G>T (p.Gly383Val) | |
2 | g.26484576C>G | CA346137871 | OTOF | c.1103G>C (p.Gly368Ala) c.1148G>C (p.Gly383Ala) | |
2 | g.26484576C>T | CA346137872 | OTOF | c.1103G>A (p.Gly368Glu) c.1148G>A (p.Gly383Glu) | |
2 | g.26484577C>A | CA346137873 | OTOF | c.1102G>T (p.Gly368Trp) c.1147G>T (p.Gly383Trp) | |
2 | g.26484577C= | CA1239831402 | OTOF | c.1102G= (p.Gly368=) c.1147G= (p.Gly383=) | |
2 | g.26484577C>G | CA346137874 | OTOF | c.1102G>C (p.Gly368Arg) c.1147G>C (p.Gly383Arg) | dbSNP |
2 | g.26484577C>T | CA346137875 | OTOF | c.1102G>A (p.Gly368Arg) c.1147G>A (p.Gly383Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484578C>A | CA425207441 | OTOF | c.1101G>T (p.Ser367=) c.1146G>T (p.Ser382=) | gnomAD v4 |
2 | g.26484578C= | CA1239831405 | OTOF | c.1101G= (p.Ser367=) c.1146G= (p.Ser382=) | |
2 | g.26484578C>G | CA425207440 | OTOF | c.1101G>C (p.Ser367=) c.1146G>C (p.Ser382=) | |
2 | g.26484578C>T | CA1564378 | OTOF | c.1101G>A (p.Ser367=) c.1146G>A (p.Ser382=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484579_26484589del | CA2586968847 | OTOF | c.1091_1101del (p.Asp364GlyfsTer9) c.1136_1146del (p.Asp379GlyfsTer9) | |
2 | g.26484579G>A | CA1564379 | OTOF | c.1100C>T (p.Ser367Leu) c.1145C>T (p.Ser382Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484579G>C | CA346137877 | OTOF | c.1100C>G (p.Ser367Trp) c.1145C>G (p.Ser382Trp) | |
2 | g.26484579G= | CA1239831408 | OTOF | c.1100C= (p.Ser367=) c.1145C= (p.Ser382=) | |
2 | g.26484579G>T | CA346137876 | OTOF | c.1100C>A (p.Ser367Ter) c.1145C>A (p.Ser382Ter) | |
2 | g.26484579_26484580insC | CA2533243087 | OTOF | c.1099_1100insG (p.Ser367CysfsTer10) c.1144_1145insG (p.Ser382CysfsTer10) | |
2 | g.26484580A>C | CA346137878 | OTOF | c.1099T>G (p.Ser367Ala) c.1144T>G (p.Ser382Ala) | gnomAD v4 |
2 | g.26484580A>G | CA346137879 | OTOF | c.1099T>C (p.Ser367Pro) c.1144T>C (p.Ser382Pro) | gnomAD v4 |
2 | g.26484580A>T | CA346137880 | OTOF | c.1099T>A (p.Ser367Thr) c.1144T>A (p.Ser382Thr) | |
2 | g.26484581G>A | CA425207444 | OTOF | c.1098C>T (p.Ser366=) c.1143C>T (p.Ser381=) | gnomAD v4 |
2 | g.26484581G>C | CA425207446 | OTOF | c.1098C>G (p.Ser366=) c.1143C>G (p.Ser381=) | |
2 | g.26484581G>T | CA425207445 | OTOF | c.1098C>A (p.Ser366=) c.1143C>A (p.Ser381=) | gnomAD v4 |
2 | g.26484581_26484582insT | CA2535446186 | OTOF | c.1097_1098insA (p.Ser367LeufsTer10) c.1142_1143insA (p.Ser382LeufsTer10) | |
2 | g.26484582G>A | CA346137881 | OTOF | c.1097C>T (p.Ser366Phe) c.1142C>T (p.Ser381Phe) | gnomAD v4 |
2 | g.26484582G>C | CA346137882 | OTOF | c.1097C>G (p.Ser366Cys) c.1142C>G (p.Ser381Cys) | |
2 | g.26484582G>T | CA346137883 | OTOF | c.1097C>A (p.Ser366Tyr) c.1142C>A (p.Ser381Tyr) |