Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26483582G>A | CA425207101 | OTOF | c.1272C>T (p.Tyr424=) c.1317C>T (p.Tyr439=) | |
2 | g.26483582G>C | CA346136786 | OTOF | c.1272C>G (p.Tyr424Ter) c.1317C>G (p.Tyr439Ter) | ClinVar dbSNP |
2 | g.26483582G= | CA1239830427 | OTOF | c.1272C= (p.Tyr424=) c.1317C= (p.Tyr439=) | |
2 | g.26483582G>T | CA346136787 | OTOF | c.1272C>A (p.Tyr424Ter) c.1317C>A (p.Tyr439Ter) | |
2 | g.26483583T>A | CA346136790 | OTOF | c.1271A>T (p.Tyr424Phe) c.1316A>T (p.Tyr439Phe) | |
2 | g.26483583T>C | CA346136791 | OTOF | c.1271A>G (p.Tyr424Cys) c.1316A>G (p.Tyr439Cys) | |
2 | g.26483583T>G | CA346136793 | OTOF | c.1271A>C (p.Tyr424Ser) c.1316A>C (p.Tyr439Ser) | |
2 | g.26483584A>C | CA346136798 | OTOF | c.1270T>G (p.Tyr424Asp) c.1315T>G (p.Tyr439Asp) | |
2 | g.26483584A>G | CA346136795 | OTOF | c.1270T>C (p.Tyr424His) c.1315T>C (p.Tyr439His) | |
2 | g.26483584A>T | CA346136796 | OTOF | c.1270T>A (p.Tyr424Asn) c.1315T>A (p.Tyr439Asn) | |
2 | g.26483585A= | CA1239830429 | OTOF | c.1269T= (p.Ile423=) c.1314T= (p.Ile438=) | |
2 | g.26483585A>C | CA346136799 | OTOF | c.1269T>G (p.Ile423Met) c.1314T>G (p.Ile438Met) | |
2 | g.26483585A>G | CA425207106 | OTOF | c.1269T>C (p.Ile423=) c.1314T>C (p.Ile438=) | |
2 | g.26483585A>T | CA425207107 | OTOF | c.1269T>A (p.Ile423=) c.1314T>A (p.Ile438=) | dbSNP gnomAD v4 |
2 | g.26483586A>C | CA346136804 | OTOF | c.1268T>G (p.Ile423Ser) c.1313T>G (p.Ile438Ser) | |
2 | g.26483586A>G | CA346136802 | OTOF | c.1268T>C (p.Ile423Thr) c.1313T>C (p.Ile438Thr) | |
2 | g.26483586A>T | CA346136806 | OTOF | c.1268T>A (p.Ile423Asn) c.1313T>A (p.Ile438Asn) | |
2 | g.26483587T>A | CA346136809 | OTOF | c.1267A>T (p.Ile423Phe) c.1312A>T (p.Ile438Phe) | |
2 | g.26483587T>C | CA346136814 | OTOF | c.1267A>G (p.Ile423Val) c.1312A>G (p.Ile438Val) | |
2 | g.26483587T>G | CA346136811 | OTOF | c.1267A>C (p.Ile423Leu) c.1312A>C (p.Ile438Leu) | |
2 | g.26483590del | CA2658239382 | OTOF | c.1267del (p.Ile423PhefsTer10) c.1312del (p.Ile438PhefsTer10) | gnomAD v4 |
2 | g.26483588T>A | CA346136818 | OTOF | c.1266A>T (p.Lys422Asn) c.1311A>T (p.Lys437Asn) | |
2 | g.26483588T>C | CA425207173 | OTOF | c.1266A>G (p.Lys422=) c.1311A>G (p.Lys437=) | |
2 | g.26483588T>G | CA346136820 | OTOF | c.1266A>C (p.Lys422Asn) c.1311A>C (p.Lys437Asn) | |
2 | g.26483589T>A | CA346136824 | OTOF | c.1265A>T (p.Lys422Ile) c.1310A>T (p.Lys437Ile) | |
2 | g.26483589T>C | CA346136826 | OTOF | c.1265A>G (p.Lys422Arg) c.1310A>G (p.Lys437Arg) | |
2 | g.26483589T>G | CA346136828 | OTOF | c.1265A>C (p.Lys422Thr) c.1310A>C (p.Lys437Thr) | |
2 | g.26483590T>A | CA346136831 | OTOF | c.1264A>T (p.Lys422Ter) c.1309A>T (p.Lys437Ter) | |
2 | g.26483590T>C | CA346136832 | OTOF | c.1264A>G (p.Lys422Glu) c.1309A>G (p.Lys437Glu) | |
2 | g.26483590T>G | CA1564322 | OTOF | c.1264A>C (p.Lys422Gln) c.1309A>C (p.Lys437Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483590T= | CA1239830431 | OTOF | c.1264A= (p.Lys422=) c.1309A= (p.Lys437=) | |
2 | g.26483591C>A | CA425207174 | OTOF | c.1263G>T (p.Val421=) c.1308G>T (p.Val436=) | |
2 | g.26483591C>G | CA425207175 | OTOF | c.1263G>C (p.Val421=) c.1308G>C (p.Val436=) | |
2 | g.26483591C>T | CA425207176 | OTOF | c.1263G>A (p.Val421=) c.1308G>A (p.Val436=) | |
2 | g.26483592A= | CA1239830433 | OTOF | c.1262T= (p.Val421=) c.1307T= (p.Val436=) | |
2 | g.26483592A>C | CA346136842 | OTOF | c.1262T>G (p.Val421Gly) c.1307T>G (p.Val436Gly) | |
2 | g.26483592A>G | CA346136844 | OTOF | c.1262T>C (p.Val421Ala) c.1307T>C (p.Val436Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483592A>T | CA346136847 | OTOF | c.1262T>A (p.Val421Glu) c.1307T>A (p.Val436Glu) | |
2 | g.26483593C>A | CA346136851 | OTOF | c.1261G>T (p.Val421Leu) c.1306G>T (p.Val436Leu) | |
2 | g.26483593C>G | CA346136853 | OTOF | c.1261G>C (p.Val421Leu) c.1306G>C (p.Val436Leu) | |
2 | g.26483593C>T | CA346136855 | OTOF | c.1261G>A (p.Val421Met) c.1306G>A (p.Val436Met) | gnomAD v4 |
2 | g.26483594A= | CA1239830434 | OTOF | c.1260T= (p.Tyr420=) c.1305T= (p.Tyr435=) | |
2 | g.26483594A>C | CA346136858 | OTOF | c.1260T>G (p.Tyr420Ter) c.1305T>G (p.Tyr435Ter) | |
2 | g.26483594A>G | CA425207177 | OTOF | c.1260T>C (p.Tyr420=) c.1305T>C (p.Tyr435=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483594A>T | CA346136860 | OTOF | c.1260T>A (p.Tyr420Ter) c.1305T>A (p.Tyr435Ter) | |
2 | g.26483595T>A | CA346136863 | OTOF | c.1259A>T (p.Tyr420Phe) c.1304A>T (p.Tyr435Phe) | dbSNP |
2 | g.26483595T>C | CA346136865 | OTOF | c.1259A>G (p.Tyr420Cys) c.1304A>G (p.Tyr435Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483595T>G | CA346136867 | OTOF | c.1259A>C (p.Tyr420Ser) c.1304A>C (p.Tyr435Ser) | |
2 | g.26483595T= | CA1239830436 | OTOF | c.1259A= (p.Tyr420=) c.1304A= (p.Tyr435=) | |
2 | g.26483596A= | CA1239830437 | OTOF | c.1258T= (p.Tyr420=) c.1303T= (p.Tyr435=) | |
2 | g.26483596A>C | CA346136870 | OTOF | c.1258T>G (p.Tyr420Asp) c.1303T>G (p.Tyr435Asp) | |
2 | g.26483596A>G | CA1564323 | OTOF | c.1258T>C (p.Tyr420His) c.1303T>C (p.Tyr435His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483596A>T | CA346136874 | OTOF | c.1258T>A (p.Tyr420Asn) c.1303T>A (p.Tyr435Asn) | |
2 | g.26483597G>A | CA425207178 | OTOF | c.1257C>T (p.Phe419=) c.1302C>T (p.Phe434=) | |
2 | g.26483597G>C | CA346136875 | OTOF | c.1257C>G (p.Phe419Leu) c.1302C>G (p.Phe434Leu) | |
2 | g.26483597G>T | CA346136876 | OTOF | c.1257C>A (p.Phe419Leu) c.1302C>A (p.Phe434Leu) | |
2 | g.26483598A>C | CA346136877 | OTOF | c.1256T>G (p.Phe419Cys) c.1301T>G (p.Phe434Cys) | |
2 | g.26483598A>G | CA346136879 | OTOF | c.1256T>C (p.Phe419Ser) c.1301T>C (p.Phe434Ser) | gnomAD v4 |
2 | g.26483598A>T | CA346136882 | OTOF | c.1256T>A (p.Phe419Tyr) c.1301T>A (p.Phe434Tyr) | |
2 | g.26483599A>C | CA346136888 | OTOF | c.1255T>G (p.Phe419Val) c.1300T>G (p.Phe434Val) | |
2 | g.26483599A>G | CA346136891 | OTOF | c.1255T>C (p.Phe419Leu) c.1300T>C (p.Phe434Leu) | |
2 | g.26483599A>T | CA346136887 | OTOF | c.1255T>A (p.Phe419Ile) c.1300T>A (p.Phe434Ile) | |
2 | g.26483600C>A | CA425207179 | OTOF | c.1254G>T (p.Arg418=) c.1299G>T (p.Arg433=) | |
2 | g.26483600C>G | CA425207180 | OTOF | c.1254G>C (p.Arg418=) c.1299G>C (p.Arg433=) | |
2 | g.26483600C>T | CA425207181 | OTOF | c.1254G>A (p.Arg418=) c.1299G>A (p.Arg433=) | |
2 | g.26483601C>A | CA346136895 | OTOF | c.1253G>T (p.Arg418Leu) c.1298G>T (p.Arg433Leu) | gnomAD v4 |
2 | g.26483601C= | CA1239830439 | OTOF | c.1253G= (p.Arg418=) c.1298G= (p.Arg433=) | |
2 | g.26483601C>G | CA346136897 | OTOF | c.1253G>C (p.Arg418Pro) c.1298G>C (p.Arg433Pro) | |
2 | g.26483601C>T | CA1564324 | OTOF | c.1253G>A (p.Arg418Gln) c.1298G>A (p.Arg433Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483602G>A | CA1564325 | OTOF | c.1252C>T (p.Arg418Trp) c.1297C>T (p.Arg433Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483602G>C | CA346136904 | OTOF | c.1252C>G (p.Arg418Gly) c.1297C>G (p.Arg433Gly) | |
2 | g.26483602G= | CA1239830441 | OTOF | c.1252C= (p.Arg418=) c.1297C= (p.Arg433=) | |
2 | g.26483602G>T | CA425207182 | OTOF | c.1252C>A (p.Arg418=) c.1297C>A (p.Arg433=) | |
2 | g.26483603G>A | CA425207185 | OTOF | c.1251C>T (p.Ala417=) c.1296C>T (p.Ala432=) | gnomAD v4 |
2 | g.26483603G>C | CA425207184 | OTOF | c.1251C>G (p.Ala417=) c.1296C>G (p.Ala432=) | |
2 | g.26483603G>T | CA425207183 | OTOF | c.1251C>A (p.Ala417=) c.1296C>A (p.Ala432=) | dbSNP |
2 | g.26483604G>A | CA346136911 | OTOF | c.1250C>T (p.Ala417Val) c.1295C>T (p.Ala432Val) | |
2 | g.26483604G>C | CA346136909 | OTOF | c.1250C>G (p.Ala417Gly) c.1295C>G (p.Ala432Gly) | |
2 | g.26483604G>T | CA346136907 | OTOF | c.1250C>A (p.Ala417Asp) c.1295C>A (p.Ala432Asp) | gnomAD v4 |
2 | g.26483605C>A | CA1564326 | OTOF | c.1249G>T (p.Ala417Ser) c.1294G>T (p.Ala432Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483605C= | CA1239830443 | OTOF | c.1249G= (p.Ala417=) c.1294G= (p.Ala432=) | |
2 | g.26483605C>G | CA346136916 | OTOF | c.1249G>C (p.Ala417Pro) c.1294G>C (p.Ala432Pro) | |
2 | g.26483605C>T | CA346136919 | OTOF | c.1249G>A (p.Ala417Thr) c.1294G>A (p.Ala432Thr) | dbSNP |
2 | g.26483606C>A | CA346136922 | OTOF | c.1248G>T (p.Trp416Cys) c.1293G>T (p.Trp431Cys) | |
2 | g.26483606C>G | CA346136924 | OTOF | c.1248G>C (p.Trp416Cys) c.1293G>C (p.Trp431Cys) | |
2 | g.26483606C>T | CA346136926 | OTOF | c.1248G>A (p.Trp416Ter) c.1293G>A (p.Trp431Ter) | gnomAD v4 |
2 | g.26483607C>A | CA346136928 | OTOF | c.1247G>T (p.Trp416Leu) c.1292G>T (p.Trp431Leu) | |
2 | g.26483607C= | CA1239830444 | OTOF | c.1247G= (p.Trp416=) c.1292G= (p.Trp431=) | |
2 | g.26483607C>G | CA346136933 | OTOF | c.1247G>C (p.Trp416Ser) c.1292G>C (p.Trp431Ser) | |
2 | g.26483607C>T | CA346136931 | OTOF | c.1247G>A (p.Trp416Ter) c.1292G>A (p.Trp431Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483608A= | CA1239830446 | OTOF | c.1246T= (p.Trp416=) c.1291T= (p.Trp431=) | |
2 | g.26483608A>C | CA346136936 | OTOF | c.1246T>G (p.Trp416Gly) c.1291T>G (p.Trp431Gly) | |
2 | g.26483608A>G | CA1564327 | OTOF | c.1246T>C (p.Trp416Arg) c.1291T>C (p.Trp431Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483608A>T | CA346136941 | OTOF | c.1246T>A (p.Trp416Arg) c.1291T>A (p.Trp431Arg) | |
2 | g.26483609C>A | CA346136945 | OTOF | c.1245G>T (p.Gln415His) c.1290G>T (p.Gln430His) | |
2 | g.26483609C= | CA1239830447 | OTOF | c.1245G= (p.Gln415=) c.1290G= (p.Gln430=) | |
2 | g.26483609C>G | CA346136947 | OTOF | c.1245G>C (p.Gln415His) c.1290G>C (p.Gln430His) | |
2 | g.26483609C>T | CA425207186 | OTOF | c.1245G>A (p.Gln415=) c.1290G>A (p.Gln430=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483610T>A | CA346136951 | OTOF | c.1244A>T (p.Gln415Leu) c.1289A>T (p.Gln430Leu) | |
2 | g.26483610T>C | CA346136953 | OTOF | c.1244A>G (p.Gln415Arg) c.1289A>G (p.Gln430Arg) | |
2 | g.26483610T>G | CA346136955 | OTOF | c.1244A>C (p.Gln415Pro) c.1289A>C (p.Gln430Pro) | gnomAD v4 |
2 | g.26483611G>A | CA346136959 | OTOF | c.1243C>T (p.Gln415Ter) c.1288C>T (p.Gln430Ter) | |
2 | g.26483611G>C | CA346136961 | OTOF | c.1243C>G (p.Gln415Glu) c.1288C>G (p.Gln430Glu) | |
2 | g.26483611G>T | CA346136963 | OTOF | c.1243C>A (p.Gln415Lys) c.1288C>A (p.Gln430Lys) | |
2 | g.26483612G>A | CA425207187 | OTOF | c.1242C>T (p.Arg414=) c.1287C>T (p.Arg429=) | |
2 | g.26483612G>C | CA425207189 | OTOF | c.1242C>G (p.Arg414=) c.1287C>G (p.Arg429=) | ClinVar |
2 | g.26483612G>T | CA425207188 | OTOF | c.1242C>A (p.Arg414=) c.1287C>A (p.Arg429=) | |
2 | g.26483613C>A | CA346136972 | OTOF | c.1241G>T (p.Arg414Leu) c.1286G>T (p.Arg429Leu) | |
2 | g.26483613C= | CA1239830448 | OTOF | c.1241G= (p.Arg414=) c.1286G= (p.Arg429=) | |
2 | g.26483613C>G | CA346136970 | OTOF | c.1241G>C (p.Arg414Pro) c.1286G>C (p.Arg429Pro) | |
2 | g.26483613C>T | CA44402414 | OTOF | c.1241G>A (p.Arg414His) c.1286G>A (p.Arg429His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.26483614G>A | CA1564328 | OTOF | c.1240C>T (p.Arg414Cys) c.1285C>T (p.Arg429Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483614G>C | CA346136980 | OTOF | c.1240C>G (p.Arg414Gly) c.1285C>G (p.Arg429Gly) | |
2 | g.26483614G= | CA1239830451 | OTOF | c.1240C= (p.Arg414=) c.1285C= (p.Arg429=) | |
2 | g.26483614G>T | CA346136978 | OTOF | c.1240C>A (p.Arg414Ser) c.1285C>A (p.Arg429Ser) | |
2 | g.26483615T>A | CA346136983 | OTOF | c.1239A>T (p.Glu413Asp) c.1284A>T (p.Glu428Asp) | |
2 | g.26483615T>C | CA425207190 | OTOF | c.1239A>G (p.Glu413=) c.1284A>G (p.Glu428=) | |
2 | g.26483615T>G | CA346136985 | OTOF | c.1239A>C (p.Glu413Asp) c.1284A>C (p.Glu428Asp) | |
2 | g.26483616T>A | CA346136989 | OTOF | c.1238A>T (p.Glu413Val) c.1283A>T (p.Glu428Val) | |
2 | g.26483616T>C | CA346136992 | OTOF | c.1238A>G (p.Glu413Gly) c.1283A>G (p.Glu428Gly) | |
2 | g.26483616T>G | CA346136994 | OTOF | c.1238A>C (p.Glu413Ala) c.1283A>C (p.Glu428Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483616T= | CA1239830453 | OTOF | c.1238A= (p.Glu413=) c.1283A= (p.Glu428=) | |
2 | g.26483617C>A | CA346136998 | OTOF | c.1237G>T (p.Glu413Ter) c.1282G>T (p.Glu428Ter) | |
2 | g.26483617C= | CA1239830455 | OTOF | c.1237G= (p.Glu413=) c.1282G= (p.Glu428=) | |
2 | g.26483617C>G | CA346137001 | OTOF | c.1237G>C (p.Glu413Gln) c.1282G>C (p.Glu428Gln) | |
2 | g.26483617C>T | CA1564329 | OTOF | c.1237G>A (p.Glu413Lys) c.1282G>A (p.Glu428Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26483617_26483618delinsCG | CA1239830454 | OTOF | c.1236_1237delinsCG (p.Pro412=) c.1281_1282delinsCG (p.Pro427=) | |
2 | g.26483618G>A | CA1564331 | OTOF | c.1236C>T (p.Pro412=) c.1281C>T (p.Pro427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483618G>C | CA425207191 | OTOF | c.1236C>G (p.Pro412=) c.1281C>G (p.Pro427=) | |
2 | g.26483618G= | CA1239830458 | OTOF | c.1236C= (p.Pro412=) c.1281C= (p.Pro427=) | |
2 | g.26483618G>T | CA425207192 | OTOF | c.1236C>A (p.Pro412=) c.1281C>A (p.Pro427=) | |
2 | g.26483623dup | CA1564330 | OTOF | c.1236dup (p.Glu413ArgfsTer?) c.1281dup (p.Glu428ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483622_26483623dup | CA2749240847 | OTOF | c.1235_1236dup (p.Glu413ProfsTer10) c.1280_1281dup (p.Glu428ProfsTer10) | |
2 | g.26483623del | CA345086 | OTOF | c.1236del (p.Glu413AsnfsTer9) c.1281del (p.Glu428AsnfsTer9) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.26483619G>A | CA346137030 | OTOF | c.1235C>T (p.Pro412Leu) c.1280C>T (p.Pro427Leu) | |
2 | g.26483619G>C | CA346137027 | OTOF | c.1235C>G (p.Pro412Arg) c.1280C>G (p.Pro427Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483619G= | CA1239830462 | OTOF | c.1235C= (p.Pro412=) c.1280C= (p.Pro427=) | |
2 | g.26483619G>T | CA346137023 | OTOF | c.1235C>A (p.Pro412His) c.1280C>A (p.Pro427His) | |
2 | g.26483620G>A | CA346137034 | OTOF | c.1234C>T (p.Pro412Ser) c.1279C>T (p.Pro427Ser) | |
2 | g.26483620G>C | CA346137036 | OTOF | c.1234C>G (p.Pro412Ala) c.1279C>G (p.Pro427Ala) | |
2 | g.26483620G>T | CA346137039 | OTOF | c.1234C>A (p.Pro412Thr) c.1279C>A (p.Pro427Thr) | |
2 | g.26483621G>A | CA44402423 | OTOF | c.1233C>T (p.Pro411=) c.1278C>T (p.Pro426=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483621G>C | CA425207194 | OTOF | c.1233C>G (p.Pro411=) c.1278C>G (p.Pro426=) | dbSNP |
2 | g.26483621G= | CA1239830464 | OTOF | c.1233C= (p.Pro411=) c.1278C= (p.Pro426=) | |
2 | g.26483621G>T | CA425207193 | OTOF | c.1233C>A (p.Pro411=) c.1278C>A (p.Pro426=) | |
2 | g.26483622G>A | CA346137042 | OTOF | c.1232C>T (p.Pro411Leu) c.1277C>T (p.Pro426Leu) | |
2 | g.26483622G>C | CA346137044 | OTOF | c.1232C>G (p.Pro411Arg) c.1277C>G (p.Pro426Arg) | |
2 | g.26483622G>T | CA346137047 | OTOF | c.1232C>A (p.Pro411His) c.1277C>A (p.Pro426His) | |
2 | g.26483622_26483623insCCC | CA2749240848 | OTOF | c.1231_1232insGGG (p.Pro411delinsArgAla) c.1276_1277insGGG (p.Pro426delinsArgAla) | |
2 | g.26483623G>A | CA1564332 | OTOF | c.1231C>T (p.Pro411Ser) c.1276C>T (p.Pro426Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483623G>C | CA346137053 | OTOF | c.1231C>G (p.Pro411Ala) c.1276C>G (p.Pro426Ala) | gnomAD v4 |
2 | g.26483623G= | CA1239830466 | OTOF | c.1231C= (p.Pro411=) c.1276C= (p.Pro426=) | |
2 | g.26483623G>T | CA346137056 | OTOF | c.1231C>A (p.Pro411Thr) c.1276C>A (p.Pro426Thr) | |
2 | g.26483624C>A | CA425207195 | OTOF | c.1230G>T (p.Val410=) c.1275G>T (p.Val425=) | dbSNP gnomAD v2 |
2 | g.26483624C= | CA1239830468 | OTOF | c.1230G= (p.Val410=) c.1275G= (p.Val425=) | |
2 | g.26483624C>G | CA425207196 | OTOF | c.1230G>C (p.Val410=) c.1275G>C (p.Val425=) | |
2 | g.26483624C>T | CA425207197 | OTOF | c.1230G>A (p.Val410=) c.1275G>A (p.Val425=) | |
2 | g.26483625A= | CA1239830470 | OTOF | c.1229T= (p.Val410=) c.1274T= (p.Val425=) | |
2 | g.26483625A>C | CA346137058 | OTOF | c.1229T>G (p.Val410Gly) c.1274T>G (p.Val425Gly) | dbSNP |
2 | g.26483625A>G | CA346137060 | OTOF | c.1229T>C (p.Val410Ala) c.1274T>C (p.Val425Ala) | |
2 | g.26483625A>T | CA346137062 | OTOF | c.1229T>A (p.Val410Glu) c.1274T>A (p.Val425Glu) | |
2 | g.26483626C>A | CA346137070 | OTOF | c.1228G>T (p.Val410Leu) c.1273G>T (p.Val425Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483626C= | CA1239830473 | OTOF | c.1228G= (p.Val410=) c.1273G= (p.Val425=) | |
2 | g.26483626C>G | CA1564333 | OTOF | c.1228G>C (p.Val410Leu) c.1273G>C (p.Val425Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483626C>T | CA346137067 | OTOF | c.1228G>A (p.Val410Met) c.1273G>A (p.Val425Met) | gnomAD v4 |
2 | g.26483627C>A | CA425207198 | OTOF | c.1227G>T (p.Gly409=) c.1272G>T (p.Gly424=) | |
2 | g.26483627C= | CA1239830476 | OTOF | c.1227G= (p.Gly409=) c.1272G= (p.Gly424=) | |
2 | g.26483627C>G | CA10615100 | OTOF | c.1227G>C (p.Gly409=) c.1272G>C (p.Gly424=) | ClinVar dbSNP |
2 | g.26483627C>T | CA425207199 | OTOF | c.1227G>A (p.Gly409=) c.1272G>A (p.Gly424=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483628C>A | CA346137077 | OTOF | c.1226G>T (p.Gly409Val) c.1271G>T (p.Gly424Val) | |
2 | g.26483628C>G | CA346137079 | OTOF | c.1226G>C (p.Gly409Ala) c.1271G>C (p.Gly424Ala) | |
2 | g.26483628C>T | CA346137082 | OTOF | c.1226G>A (p.Gly409Glu) c.1271G>A (p.Gly424Glu) | |
2 | g.26483629C>A | CA346137085 | OTOF | c.1225G>T (p.Gly409Trp) c.1270G>T (p.Gly424Trp) | |
2 | g.26483629C>G | CA346137087 | OTOF | c.1225G>C (p.Gly409Arg) c.1270G>C (p.Gly424Arg) | |
2 | g.26483629C>T | CA346137090 | OTOF | c.1225G>A (p.Gly409Arg) c.1270G>A (p.Gly424Arg) | COSMIC |
2 | g.26483630C>A | CA346137094 | OTOF | c.1224G>T (p.Glu408Asp) c.1269G>T (p.Glu423Asp) | |
2 | g.26483630C>G | CA346137096 | OTOF | c.1224G>C (p.Glu408Asp) c.1269G>C (p.Glu423Asp) | gnomAD v4 |
2 | g.26483630C>T | CA425207200 | OTOF | c.1224G>A (p.Glu408=) c.1269G>A (p.Glu423=) | gnomAD v4 |
2 | g.26483631T>A | CA346137099 | OTOF | c.1223A>T (p.Glu408Val) c.1268A>T (p.Glu423Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483631T>C | CA346137101 | OTOF | c.1223A>G (p.Glu408Gly) c.1268A>G (p.Glu423Gly) | |
2 | g.26483631T>G | CA346137104 | OTOF | c.1223A>C (p.Glu408Ala) c.1268A>C (p.Glu423Ala) | |
2 | g.26483631T= | CA1239830478 | OTOF | c.1223A= (p.Glu408=) c.1268A= (p.Glu423=) | |
2 | g.26483632C>A | CA346137114 | OTOF | c.1222G>T (p.Glu408Ter) c.1267G>T (p.Glu423Ter) | |
2 | g.26483632C= | CA1239830479 | OTOF | c.1222G= (p.Glu408=) c.1267G= (p.Glu423=) | |
2 | g.26483632C>G | CA346137111 | OTOF | c.1222G>C (p.Glu408Gln) c.1267G>C (p.Glu423Gln) | gnomAD v4 |
2 | g.26483632C>T | CA1564334 | OTOF | c.1222G>A (p.Glu408Lys) c.1267G>A (p.Glu423Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26483632_26483633delinsCG | CA1239830481 | OTOF | c.1221_1222delinsCG (p.Pro407=) c.1266_1267delinsCG (p.Pro422=) | |
2 | g.26483633G>A | CA183969 | OTOF | c.1221C>T (p.Pro407=) c.1266C>T (p.Pro422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483633G>C | CA425207201 | OTOF | c.1221C>G (p.Pro407=) c.1266C>G (p.Pro422=) | |
2 | g.26483633G= | CA1239830483 | OTOF | c.1221C= (p.Pro407=) c.1266C= (p.Pro422=) | |
2 | g.26483633G>T | CA425207202 | OTOF | c.1221C>A (p.Pro407=) c.1266C>A (p.Pro422=) | |
2 | g.26483636del | CA916496232 | OTOF | c.1221del (p.Glu408ArgfsTer14) c.1266del (p.Glu423ArgfsTer14) | dbSNP |
2 | g.26483634G>A | CA346137120 | OTOF | c.1220C>T (p.Pro407Leu) c.1265C>T (p.Pro422Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483634G>C | CA346137124 | OTOF | c.1220C>G (p.Pro407Arg) c.1265C>G (p.Pro422Arg) | |
2 | g.26483634G= | CA1239830485 | OTOF | c.1220C= (p.Pro407=) c.1265C= (p.Pro422=) | |
2 | g.26483634G>T | CA346137126 | OTOF | c.1220C>A (p.Pro407His) c.1265C>A (p.Pro422His) | |
2 | g.26483635G>A | CA44402439 | OTOF | c.1219C>T (p.Pro407Ser) c.1264C>T (p.Pro422Ser) | dbSNP gnomAD v4 |
2 | g.26483635G>C | CA346137130 | OTOF | c.1219C>G (p.Pro407Ala) c.1264C>G (p.Pro422Ala) | |
2 | g.26483635G= | CA1239830488 | OTOF | c.1219C= (p.Pro407=) c.1264C= (p.Pro422=) | |
2 | g.26483635G>T | CA346137131 | OTOF | c.1219C>A (p.Pro407Thr) c.1264C>A (p.Pro422Thr) | |
2 | g.26483636G>A | CA425207203 | OTOF | c.1218C>T (p.Leu406=) c.1263C>T (p.Leu421=) | |
2 | g.26483636G>C | CA425207204 | OTOF | c.1218C>G (p.Leu406=) c.1263C>G (p.Leu421=) | |
2 | g.26483636G>T | CA425207205 | OTOF | c.1218C>A (p.Leu406=) c.1263C>A (p.Leu421=) | gnomAD v4 |
2 | g.26483637A>C | CA346137135 | OTOF | c.1217T>G (p.Leu406Arg) c.1262T>G (p.Leu421Arg) | |
2 | g.26483637A>G | CA346137136 | OTOF | c.1217T>C (p.Leu406Pro) c.1262T>C (p.Leu421Pro) | |
2 | g.26483637A>T | CA346137137 | OTOF | c.1217T>A (p.Leu406His) c.1262T>A (p.Leu421His) | |
2 | g.26483638G>A | CA346137138 | OTOF | c.1216C>T (p.Leu406Phe) c.1261C>T (p.Leu421Phe) | gnomAD v4 |
2 | g.26483638G>C | CA346137139 | OTOF | c.1216C>G (p.Leu406Val) c.1261C>G (p.Leu421Val) | |
2 | g.26483638G>T | CA346137140 | OTOF | c.1216C>A (p.Leu406Ile) c.1261C>A (p.Leu421Ile) | |
2 | g.26483639C>A | CA1564335 | OTOF | c.1215G>T (p.Leu405=) c.1260G>T (p.Leu420=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483639C= | CA1239830489 | OTOF | c.1215G= (p.Leu405=) c.1260G= (p.Leu420=) | |
2 | g.26483639C>G | CA425207206 | OTOF | c.1215G>C (p.Leu405=) c.1260G>C (p.Leu420=) | |
2 | g.26483639C>T | CA425207207 | OTOF | c.1215G>A (p.Leu405=) c.1260G>A (p.Leu420=) | |
2 | g.26483640A>C | CA346137142 | OTOF | c.1214T>G (p.Leu405Arg) c.1259T>G (p.Leu420Arg) | |
2 | g.26483640A>G | CA346137141 | OTOF | c.1214T>C (p.Leu405Pro) c.1259T>C (p.Leu420Pro) | |
2 | g.26483640A>T | CA346137143 | OTOF | c.1214T>A (p.Leu405Gln) c.1259T>A (p.Leu420Gln) | |
2 | g.26483641G>A | CA425207208 | OTOF | c.1213C>T (p.Leu405=) c.1258C>T (p.Leu420=) | |
2 | g.26483641G>C | CA346137144 | OTOF | c.1213C>G (p.Leu405Val) c.1258C>G (p.Leu420Val) | |
2 | g.26483641G>T | CA346137145 | OTOF | c.1213C>A (p.Leu405Met) c.1258C>A (p.Leu420Met) | |
2 | g.26483642C>A | CA346137146 | OTOF | c.1212G>T (p.Leu404Phe) c.1257G>T (p.Leu419Phe) | gnomAD v4 |
2 | g.26483642C>G | CA346137147 | OTOF | c.1212G>C (p.Leu404Phe) c.1257G>C (p.Leu419Phe) | |
2 | g.26483642C>T | CA425207209 | OTOF | c.1212G>A (p.Leu404=) c.1257G>A (p.Leu419=) | |
2 | g.26483643A>C | CA346137148 | OTOF | c.1211T>G (p.Leu404Trp) c.1256T>G (p.Leu419Trp) | |
2 | g.26483643A>G | CA346137149 | OTOF | c.1211T>C (p.Leu404Ser) c.1256T>C (p.Leu419Ser) | |
2 | g.26483643A>T | CA346137150 | OTOF | c.1211T>A (p.Leu404Ter) c.1256T>A (p.Leu419Ter) | |
2 | g.26483644A>C | CA346137154 | OTOF | c.1210T>G (p.Leu404Val) c.1255T>G (p.Leu419Val) | |
2 | g.26483644A>G | CA425207210 | OTOF | c.1210T>C (p.Leu404=) c.1255T>C (p.Leu419=) | |
2 | g.26483644A>T | CA346137155 | OTOF | c.1210T>A (p.Leu404Met) c.1255T>A (p.Leu419Met) | |
2 | g.26483645G>A | CA425207211 | OTOF | c.1209C>T (p.Asn403=) c.1254C>T (p.Asn418=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483645G>C | CA346137160 | OTOF | c.1209C>G (p.Asn403Lys) c.1254C>G (p.Asn418Lys) | |
2 | g.26483645G= | CA1239830491 | OTOF | c.1209C= (p.Asn403=) c.1254C= (p.Asn418=) | |
2 | g.26483645G>T | CA346137162 | OTOF | c.1209C>A (p.Asn403Lys) c.1254C>A (p.Asn418Lys) | |
2 | g.26483646T>A | CA346137165 | OTOF | c.1208A>T (p.Asn403Ile) c.1253A>T (p.Asn418Ile) | |
2 | g.26483646T>C | CA346137168 | OTOF | c.1208A>G (p.Asn403Ser) c.1253A>G (p.Asn418Ser) | gnomAD v4 |
2 | g.26483646T>G | CA346137170 | OTOF | c.1208A>C (p.Asn403Thr) c.1253A>C (p.Asn418Thr) | |
2 | g.26483647T>A | CA346137176 | OTOF | c.1207A>T (p.Asn403Tyr) c.1252A>T (p.Asn418Tyr) | |
2 | g.26483647T>C | CA346137175 | OTOF | c.1207A>G (p.Asn403Asp) c.1252A>G (p.Asn418Asp) | gnomAD v4 |
2 | g.26483647T>G | CA346137173 | OTOF | c.1207A>C (p.Asn403His) c.1252A>C (p.Asn418His) | |
2 | g.26483648C>A | CA425207212 | OTOF | c.1206G>T (p.Gly402=) c.1251G>T (p.Gly417=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483648C= | CA1239830493 | OTOF | c.1206G= (p.Gly402=) c.1251G= (p.Gly417=) | |
2 | g.26483648C>G | CA425207213 | OTOF | c.1206G>C (p.Gly402=) c.1251G>C (p.Gly417=) | |
2 | g.26483648C>T | CA425207214 | OTOF | c.1206G>A (p.Gly402=) c.1251G>A (p.Gly417=) | gnomAD v4 |
2 | g.26483649C>A | CA346137177 | OTOF | c.1206-1G>T (n.1206-1G>T) c.1251-1G>T (n.1251-1G>T) | |
2 | g.26483649C= | CA1239830494 | OTOF | c.1206-1G= (n.1206-1G=) c.1251-1G= (n.1251-1G=) | |
2 | g.26483649C>G | CA346137178 | OTOF | c.1206-1G>C (n.1206-1G>C) c.1251-1G>C (n.1251-1G>C) | |
2 | g.26483649C>T | CA346137179 | OTOF | c.1206-1G>A (n.1206-1G>A) c.1251-1G>A (n.1251-1G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.26483650T>A | CA346137182 | OTOF | c.1206-2A>T (n.1206-2A>T) c.1251-2A>T (n.1251-2A>T) | |
2 | g.26483650T>C | CA346137184 | OTOF | c.1206-2A>G (n.1206-2A>G) c.1251-2A>G (n.1251-2A>G) | |
2 | g.26483650T>G | CA346137186 | OTOF | c.1206-2A>C (n.1206-2A>C) c.1251-2A>C (n.1251-2A>C) | |
2 | g.26483651G>T | CA2658239495 | OTOF | c.1206-3C>A (n.1206-3C>A) c.1251-3C>A (n.1251-3C>A) | gnomAD v4 |
2 | g.26483652C>A | CA531396540 | OTOF | c.1206-4G>T (n.1206-4G>T) c.1251-4G>T (n.1251-4G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483652C= | CA1239830495 | OTOF | c.1206-4G= (n.1206-4G=) c.1251-4G= (n.1251-4G=) | |
2 | g.26483652C>G | CA2658239496 | OTOF | c.1206-4G>C (n.1206-4G>C) c.1251-4G>C (n.1251-4G>C) | gnomAD v4 |
2 | g.26483655G>C | CA2658239497 | OTOF | c.1206-7C>G (n.1206-7C>G) c.1251-7C>G (n.1251-7C>G) | gnomAD v4 |
2 | g.26483656C= | CA1239830497 | OTOF | c.1206-8G= (n.1206-8G=) c.1251-8G= (n.1251-8G=) | |
2 | g.26483656C>G | CA1564336 | OTOF | c.1206-8G>C (n.1206-8G>C) c.1251-8G>C (n.1251-8G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26483657A= | CA1239830499 | OTOF | c.1206-9T= (n.1206-9T=) c.1251-9T= (n.1251-9T=) | |
2 | g.26483657A>C | CA531396542 | OTOF | c.1206-9T>G (n.1206-9T>G) c.1251-9T>G (n.1251-9T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483658C>A | CA1564337 | OTOF | c.1206-10G>T (n.1206-10G>T) c.1251-10G>T (n.1251-10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483658C= | CA1239830501 | OTOF | c.1206-10G= (n.1206-10G=) c.1251-10G= (n.1251-10G=) | |
2 | g.26483658C>T | CA1564338 | OTOF | c.1206-10G>A (n.1206-10G>A) c.1251-10G>A (n.1251-10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483659A= | CA1239830502 | OTOF | c.1206-11T= (n.1206-11T=) c.1251-11T= (n.1251-11T=) | |
2 | g.26483659A>G | CA531396547 | OTOF | c.1206-11T>C (n.1206-11T>C) c.1251-11T>C (n.1251-11T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483660T>C | CA2576699752 | OTOF | c.1206-12A>G (n.1206-12A>G) c.1251-12A>G (n.1251-12A>G) | |
2 | g.26483661dup | CA2658239498 | OTOF | c.1206-13dup (n.1206-13dup) c.1251-13dup (n.1251-13dup) | gnomAD v4 |
2 | g.26483663A>T | CA2749240849 | OTOF | c.1206-15T>A (n.1206-15T>A) c.1251-15T>A (n.1251-15T>A) | |
2 | g.26483664G>C | CA531396548 | OTOF | c.1206-16C>G (n.1206-16C>G) c.1251-16C>G (n.1251-16C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483664G= | CA1239830504 | OTOF | c.1206-16C= (n.1206-16C=) c.1251-16C= (n.1251-16C=) | |
2 | g.26483664G>T | CA2658239499 | OTOF | c.1206-16C>A (n.1206-16C>A) c.1251-16C>A (n.1251-16C>A) | gnomAD v4 |
2 | g.26483665C= | CA1239830505 | OTOF | c.1206-17G= (n.1206-17G=) c.1251-17G= (n.1251-17G=) | |
2 | g.26483665C>T | CA531396549 | OTOF | c.1206-17G>A (n.1206-17G>A) c.1251-17G>A (n.1251-17G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483670_26483684del | CA2658239500 | OTOF | c.1206-31_1206-17del (n.1206-31_1206-17del) c.1251-31_1251-17del (n.1251-31_1251-17del) | gnomAD v4 |
2 | g.26483667A= | CA1239830507 | OTOF | c.1206-19T= (n.1206-19T=) c.1251-19T= (n.1251-19T=) | |
2 | g.26483668G>A | CA1564339 | OTOF | c.1206-20C>T (n.1206-20C>T) c.1251-20C>T (n.1251-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483668G= | CA1239830509 | OTOF | c.1206-20C= (n.1206-20C=) c.1251-20C= (n.1251-20C=) | |
2 | g.26483670dup | CA44402455 | OTOF | c.1206-20dup (n.1206-20dup) c.1251-20dup (n.1251-20dup) | dbSNP |
2 | g.26483669G>A | CA2658239501 | OTOF | c.1206-21C>T (n.1206-21C>T) c.1251-21C>T (n.1251-21C>T) | gnomAD v4 |
2 | g.26483670G= | CA1239830510 | OTOF | c.1206-22C= (n.1206-22C=) c.1251-22C= (n.1251-22C=) | |
2 | g.26483670G>T | CA1028611543 | OTOF | c.1206-22C>A (n.1206-22C>A) c.1251-22C>A (n.1251-22C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26483672C>T | CA2658239502 | OTOF | c.1206-24G>A (n.1206-24G>A) c.1251-24G>A (n.1251-24G>A) | gnomAD v4 |
2 | g.26483673A>G | CA2658239503 | OTOF | c.1206-25T>C (n.1206-25T>C) c.1251-25T>C (n.1251-25T>C) | gnomAD v4 |
2 | g.26483674T>C | CA1239830512 | OTOF | c.1206-26A>G (n.1206-26A>G) c.1251-26A>G (n.1251-26A>G) | dbSNP gnomAD v4 |
2 | g.26483674T= | CA1239830511 | OTOF | c.1206-26A= (n.1206-26A=) c.1251-26A= (n.1251-26A=) | |
2 | g.26483675G>A | CA1239830515 | OTOF | c.1206-27C>T (n.1206-27C>T) c.1251-27C>T (n.1251-27C>T) | dbSNP |
2 | g.26483675G= | CA1239830514 | OTOF | c.1206-27C= (n.1206-27C=) c.1251-27C= (n.1251-27C=) | |
2 | g.26483675G>T | CA2658239504 | OTOF | c.1206-27C>A (n.1206-27C>A) c.1251-27C>A (n.1251-27C>A) | gnomAD v4 |
2 | g.26483678C>A | CA2576699753 | OTOF | c.1206-30G>T (n.1206-30G>T) c.1251-30G>T (n.1251-30G>T) | gnomAD v4 |
2 | g.26483678C>T | CA2658239506 | OTOF | c.1206-30G>A (n.1206-30G>A) c.1251-30G>A (n.1251-30G>A) | gnomAD v4 |
2 | g.26483680C= | CA1239830516 | OTOF | c.1206-32G= (n.1206-32G=) c.1251-32G= (n.1251-32G=) | |
2 | g.26483680C>T | CA531396551 | OTOF | c.1206-32G>A (n.1206-32G>A) c.1251-32G>A (n.1251-32G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26483681C= | CA1239830518 | OTOF | c.1206-33G= (n.1206-33G=) c.1251-33G= (n.1251-33G=) | |
2 | g.26483681C>T | CA1564340 | OTOF | c.1206-33G>A (n.1206-33G>A) c.1251-33G>A (n.1251-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26483682A>G | CA2658239508 | OTOF | c.1206-34T>C (n.1206-34T>C) c.1251-34T>C (n.1251-34T>C) | gnomAD v4 |