Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.60975668A=CA2141037393TRMT5c.1251T= (p.His417=)
c.1335T= (p.His445=)
c.1332T= (p.His444=)
14g.60975668A>CCA389919086TRMT5c.1251T>G (p.His417Gln)
c.1335T>G (p.His445Gln)
c.1332T>G (p.His444Gln)
14g.60975668A>GCA7213741TRMT5c.1251T>C (p.His417=)
c.1335T>C (p.His445=)
c.1332T>C (p.His444=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975668A>TCA389919087TRMT5c.1251T>A (p.His417Gln)
c.1335T>A (p.His445Gln)
c.1332T>A (p.His444Gln)
14g.60975669T>ACA389919088TRMT5c.1250A>T (p.His417Leu)
c.1334A>T (p.His445Leu)
c.1331A>T (p.His444Leu)
14g.60975669T>CCA389919089TRMT5c.1250A>G (p.His417Arg)
c.1334A>G (p.His445Arg)
c.1331A>G (p.His444Arg)
 gnomAD v4
14g.60975669T>GCA389919090TRMT5c.1250A>C (p.His417Pro)
c.1334A>C (p.His445Pro)
c.1331A>C (p.His444Pro)
14g.60975670G>ACA389919091TRMT5c.1249C>T (p.His417Tyr)
c.1333C>T (p.His445Tyr)
c.1330C>T (p.His444Tyr)
14g.60975670G>CCA389919092TRMT5c.1249C>G (p.His417Asp)
c.1333C>G (p.His445Asp)
c.1330C>G (p.His444Asp)
14g.60975670G>TCA389919093TRMT5c.1249C>A (p.His417Asn)
c.1333C>A (p.His445Asn)
c.1330C>A (p.His444Asn)
14g.60975671C>ACA486956978TRMT5c.1248G>T (p.Val416=)
c.1332G>T (p.Val444=)
c.1329G>T (p.Val443=)
14g.60975671C>GCA486956979TRMT5c.1248G>C (p.Val416=)
c.1332G>C (p.Val444=)
c.1329G>C (p.Val443=)
14g.60975671C>TCA486956980TRMT5c.1248G>A (p.Val416=)
c.1332G>A (p.Val444=)
c.1329G>A (p.Val443=)
 gnomAD v4
14g.60975672A=CA2141037401TRMT5c.1247T= (p.Val416=)
c.1331T= (p.Val444=)
c.1328T= (p.Val443=)
14g.60975672A>CCA389919094TRMT5c.1247T>G (p.Val416Gly)
c.1331T>G (p.Val444Gly)
c.1328T>G (p.Val443Gly)
14g.60975672A>GCA7213742TRMT5c.1247T>C (p.Val416Ala)
c.1331T>C (p.Val444Ala)
c.1328T>C (p.Val443Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975672A>TCA389919095TRMT5c.1247T>A (p.Val416Glu)
c.1331T>A (p.Val444Glu)
c.1328T>A (p.Val443Glu)
 gnomAD v4
14g.60975673C>ACA389919096TRMT5c.1246G>T (p.Val416Leu)
c.1330G>T (p.Val444Leu)
c.1327G>T (p.Val443Leu)
 gnomAD v4
14g.60975673C>GCA389919097TRMT5c.1246G>C (p.Val416Leu)
c.1330G>C (p.Val444Leu)
c.1327G>C (p.Val443Leu)
14g.60975673C>TCA389919098TRMT5c.1246G>A (p.Val416Met)
c.1330G>A (p.Val444Met)
c.1327G>A (p.Val443Met)
14g.60975674T>ACA486956985TRMT5c.1245A>T (p.Ile415=)
c.1329A>T (p.Ile443=)
c.1326A>T (p.Ile442=)
14g.60975674T>CCA389919099TRMT5c.1245A>G (p.Ile415Met)
c.1329A>G (p.Ile443Met)
c.1326A>G (p.Ile442Met)
14g.60975674T>GCA486956988TRMT5c.1245A>C (p.Ile415=)
c.1329A>C (p.Ile443=)
c.1326A>C (p.Ile442=)
14g.60975675A=CA2141037404TRMT5c.1244T= (p.Ile415=)
c.1328T= (p.Ile443=)
c.1325T= (p.Ile442=)
14g.60975675A>CCA389919100TRMT5c.1244T>G (p.Ile415Arg)
c.1328T>G (p.Ile443Arg)
c.1325T>G (p.Ile442Arg)
14g.60975675A>GCA389919101TRMT5c.1244T>C (p.Ile415Thr)
c.1328T>C (p.Ile443Thr)
c.1325T>C (p.Ile442Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.60975675A>TCA389919102TRMT5c.1244T>A (p.Ile415Lys)
c.1328T>A (p.Ile443Lys)
c.1325T>A (p.Ile442Lys)
14g.60975676T>ACA389919103TRMT5c.1243A>T (p.Ile415Leu)
c.1327A>T (p.Ile443Leu)
c.1324A>T (p.Ile442Leu)
14g.60975676T>CCA7213743TRMT5c.1243A>G (p.Ile415Val)
c.1327A>G (p.Ile443Val)
c.1324A>G (p.Ile442Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975676T>GCA7213744TRMT5c.1243A>C (p.Ile415Leu)
c.1327A>C (p.Ile443Leu)
c.1324A>C (p.Ile442Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975676T=CA2141037409TRMT5c.1243A= (p.Ile415=)
c.1327A= (p.Ile443=)
c.1324A= (p.Ile442=)
14g.60975677G>ACA486956995TRMT5c.1242C>T (p.Pro414=)
c.1326C>T (p.Pro442=)
c.1323C>T (p.Pro441=)
14g.60975677G>CCA486956992TRMT5c.1242C>G (p.Pro414=)
c.1326C>G (p.Pro442=)
c.1323C>G (p.Pro441=)
14g.60975677G>TCA486956990TRMT5c.1242C>A (p.Pro414=)
c.1326C>A (p.Pro442=)
c.1323C>A (p.Pro441=)
14g.60975678G>ACA389919104TRMT5c.1241C>T (p.Pro414Leu)
c.1325C>T (p.Pro442Leu)
c.1322C>T (p.Pro441Leu)
 gnomAD v4
14g.60975678G>CCA389919105TRMT5c.1241C>G (p.Pro414Arg)
c.1325C>G (p.Pro442Arg)
c.1322C>G (p.Pro441Arg)
14g.60975678G=CA2141037411TRMT5c.1241C= (p.Pro414=)
c.1325C= (p.Pro442=)
c.1322C= (p.Pro441=)
14g.60975678G>TCA7213745TRMT5c.1241C>A (p.Pro414His)
c.1325C>A (p.Pro442His)
c.1322C>A (p.Pro441His)
 ClinVar dbSNP ExAC gnomAD v2
14g.60975682_60975685delCA2625138049TRMT5c.1238_1241del (p.Leu413ProfsTer2)
c.1322_1325del (p.Leu441ProfsTer2)
c.1319_1322del (p.Leu440ProfsTer2)
 gnomAD v4
14g.60975679G>ACA389919106TRMT5c.1240C>T (p.Pro414Ser)
c.1324C>T (p.Pro442Ser)
c.1321C>T (p.Pro441Ser)
 gnomAD v4
14g.60975679G>CCA389919107TRMT5c.1240C>G (p.Pro414Ala)
c.1324C>G (p.Pro442Ala)
c.1321C>G (p.Pro441Ala)
14g.60975679G>TCA389919108TRMT5c.1240C>A (p.Pro414Thr)
c.1324C>A (p.Pro442Thr)
c.1321C>A (p.Pro441Thr)
14g.60975680A>CCA486956996TRMT5c.1239T>G (p.Leu413=)
c.1323T>G (p.Leu441=)
c.1320T>G (p.Leu440=)
14g.60975680A>GCA486956998TRMT5c.1239T>C (p.Leu413=)
c.1323T>C (p.Leu441=)
c.1320T>C (p.Leu440=)
14g.60975680A>TCA486957001TRMT5c.1239T>A (p.Leu413=)
c.1323T>A (p.Leu441=)
c.1320T>A (p.Leu440=)
14g.60975681A>CCA389919109TRMT5c.1238T>G (p.Leu413Arg)
c.1322T>G (p.Leu441Arg)
c.1319T>G (p.Leu440Arg)
14g.60975681A>GCA389919110TRMT5c.1238T>C (p.Leu413Pro)
c.1322T>C (p.Leu441Pro)
c.1319T>C (p.Leu440Pro)
 dbSNP
14g.60975681A>TCA389919111TRMT5c.1238T>A (p.Leu413His)
c.1322T>A (p.Leu441His)
c.1319T>A (p.Leu440His)
14g.60975682G>ACA389919114TRMT5c.1237C>T (p.Leu413Phe)
c.1321C>T (p.Leu441Phe)
c.1318C>T (p.Leu440Phe)
 gnomAD v4
14g.60975682G>CCA389919112TRMT5c.1237C>G (p.Leu413Val)
c.1321C>G (p.Leu441Val)
c.1318C>G (p.Leu440Val)
 dbSNP gnomAD v2 gnomAD v4
14g.60975682G=CA2141037414TRMT5c.1237C= (p.Leu413=)
c.1321C= (p.Leu441=)
c.1318C= (p.Leu440=)
14g.60975682G>TCA389919113TRMT5c.1237C>A (p.Leu413Ile)
c.1321C>A (p.Leu441Ile)
c.1318C>A (p.Leu440Ile)
14g.60975683G>ACA486957003TRMT5c.1236C>T (p.Phe412=)
c.1320C>T (p.Phe440=)
c.1317C>T (p.Phe439=)
14g.60975683G>CCA389919115TRMT5c.1236C>G (p.Phe412Leu)
c.1320C>G (p.Phe440Leu)
c.1317C>G (p.Phe439Leu)
14g.60975683G>TCA389919116TRMT5c.1236C>A (p.Phe412Leu)
c.1320C>A (p.Phe440Leu)
c.1317C>A (p.Phe439Leu)
14g.60975684A>CCA389919117TRMT5c.1235T>G (p.Phe412Cys)
c.1319T>G (p.Phe440Cys)
c.1316T>G (p.Phe439Cys)
 gnomAD v4
14g.60975684A>GCA389919118TRMT5c.1235T>C (p.Phe412Ser)
c.1319T>C (p.Phe440Ser)
c.1316T>C (p.Phe439Ser)
14g.60975684A>TCA389919119TRMT5c.1235T>A (p.Phe412Tyr)
c.1319T>A (p.Phe440Tyr)
c.1316T>A (p.Phe439Tyr)
14g.60975685A>CCA389919122TRMT5c.1234T>G (p.Phe412Val)
c.1318T>G (p.Phe440Val)
c.1315T>G (p.Phe439Val)
14g.60975685A>GCA389919120TRMT5c.1234T>C (p.Phe412Leu)
c.1318T>C (p.Phe440Leu)
c.1315T>C (p.Phe439Leu)
 gnomAD v4
14g.60975685A>TCA389919121TRMT5c.1234T>A (p.Phe412Ile)
c.1318T>A (p.Phe440Ile)
c.1315T>A (p.Phe439Ile)
14g.60975686C>ACA389919123TRMT5c.1233G>T (p.Glu411Asp)
c.1317G>T (p.Glu439Asp)
c.1314G>T (p.Glu438Asp)
14g.60975686C>GCA389919124TRMT5c.1233G>C (p.Glu411Asp)
c.1317G>C (p.Glu439Asp)
c.1314G>C (p.Glu438Asp)
14g.60975686C>TCA486957005TRMT5c.1233G>A (p.Glu411=)
c.1317G>A (p.Glu439=)
c.1314G>A (p.Glu438=)
14g.60975687T>ACA389919125TRMT5c.1232A>T (p.Glu411Val)
c.1316A>T (p.Glu439Val)
c.1313A>T (p.Glu438Val)
14g.60975687T>CCA389919126TRMT5c.1232A>G (p.Glu411Gly)
c.1316A>G (p.Glu439Gly)
c.1313A>G (p.Glu438Gly)
14g.60975687T>GCA389919127TRMT5c.1232A>C (p.Glu411Ala)
c.1316A>C (p.Glu439Ala)
c.1313A>C (p.Glu438Ala)
14g.60975688C>ACA389919128TRMT5c.1231G>T (p.Glu411Ter)
c.1315G>T (p.Glu439Ter)
c.1312G>T (p.Glu438Ter)
14g.60975688C>GCA389919129TRMT5c.1231G>C (p.Glu411Gln)
c.1315G>C (p.Glu439Gln)
c.1312G>C (p.Glu438Gln)
14g.60975688C>TCA389919130TRMT5c.1231G>A (p.Glu411Lys)
c.1315G>A (p.Glu439Lys)
c.1312G>A (p.Glu438Lys)
 gnomAD v4
14g.60975689A=CA2141037440TRMT5c.1230T= (p.Ser410=)
c.1314T= (p.Ser438=)
c.1311T= (p.Ser437=)
14g.60975689A>CCA389919131TRMT5c.1230T>G (p.Ser410Arg)
c.1314T>G (p.Ser438Arg)
c.1311T>G (p.Ser437Arg)
 gnomAD v4
14g.60975689A>GCA486957010TRMT5c.1230T>C (p.Ser410=)
c.1314T>C (p.Ser438=)
c.1311T>C (p.Ser437=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.60975689A>TCA389919132TRMT5c.1230T>A (p.Ser410Arg)
c.1314T>A (p.Ser438Arg)
c.1311T>A (p.Ser437Arg)
14g.60975690C>ACA389919133TRMT5c.1229G>T (p.Ser410Ile)
c.1313G>T (p.Ser438Ile)
c.1310G>T (p.Ser437Ile)
14g.60975690C=CA2141037447TRMT5c.1229G= (p.Ser410=)
c.1313G= (p.Ser438=)
c.1310G= (p.Ser437=)
14g.60975690C>GCA389919134TRMT5c.1229G>C (p.Ser410Thr)
c.1313G>C (p.Ser438Thr)
c.1310G>C (p.Ser437Thr)
14g.60975690C>TCA389919135TRMT5c.1229G>A (p.Ser410Asn)
c.1313G>A (p.Ser438Asn)
c.1310G>A (p.Ser437Asn)
 dbSNP gnomAD v2 gnomAD v4
14g.60975691T>ACA389919136TRMT5c.1228A>T (p.Ser410Cys)
c.1312A>T (p.Ser438Cys)
c.1309A>T (p.Ser437Cys)
14g.60975691T>CCA389919138TRMT5c.1228A>G (p.Ser410Gly)
c.1312A>G (p.Ser438Gly)
c.1309A>G (p.Ser437Gly)
14g.60975691T>GCA389919137TRMT5c.1228A>C (p.Ser410Arg)
c.1312A>C (p.Ser438Arg)
c.1309A>C (p.Ser437Arg)
 dbSNP
14g.60975691T=CA2141037452TRMT5c.1228A= (p.Ser410=)
c.1312A= (p.Ser438=)
c.1309A= (p.Ser437=)
14g.60975692G>ACA486957015TRMT5c.1227C>T (p.Ser409=)
c.1311C>T (p.Ser437=)
c.1308C>T (p.Ser436=)
 dbSNP
14g.60975692G>CCA389919139TRMT5c.1227C>G (p.Ser409Arg)
c.1311C>G (p.Ser437Arg)
c.1308C>G (p.Ser436Arg)
14g.60975692G=CA2141037456TRMT5c.1227C= (p.Ser409=)
c.1311C= (p.Ser437=)
c.1308C= (p.Ser436=)
14g.60975692G>TCA7213746TRMT5c.1227C>A (p.Ser409Arg)
c.1311C>A (p.Ser437Arg)
c.1308C>A (p.Ser436Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975693C>ACA389919140TRMT5c.1226G>T (p.Ser409Ile)
c.1310G>T (p.Ser437Ile)
c.1307G>T (p.Ser436Ile)
14g.60975693C>GCA389919141TRMT5c.1226G>C (p.Ser409Thr)
c.1310G>C (p.Ser437Thr)
c.1307G>C (p.Ser436Thr)
14g.60975693C>TCA389919142TRMT5c.1226G>A (p.Ser409Asn)
c.1310G>A (p.Ser437Asn)
c.1307G>A (p.Ser436Asn)
14g.60975694T>ACA389919143TRMT5c.1225A>T (p.Ser409Cys)
c.1309A>T (p.Ser437Cys)
c.1306A>T (p.Ser436Cys)
14g.60975694T>CCA7213749TRMT5c.1225A>G (p.Ser409Gly)
c.1309A>G (p.Ser437Gly)
c.1306A>G (p.Ser436Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975694T>GCA7213747TRMT5c.1225A>C (p.Ser409Arg)
c.1309A>C (p.Ser437Arg)
c.1306A>C (p.Ser436Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975694T=CA2141037467TRMT5c.1225A= (p.Ser409=)
c.1309A= (p.Ser437=)
c.1306A= (p.Ser436=)
14g.60975694_60975695delinsTGCA2141037463TRMT5c.1224_1225delinsCA (p.Cys408=)
c.1308_1309delinsCA (p.Cys436=)
c.1305_1306delinsCA (p.Cys435=)
14g.60975695delCA7213748TRMT5c.1224del (p.Cys408Ter)
c.1308del (p.Cys436Ter)
c.1305del (p.Cys435Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975695G>ACA486957026TRMT5c.1224C>T (p.Cys408=)
c.1308C>T (p.Cys436=)
c.1305C>T (p.Cys435=)
14g.60975695G>CCA389919144TRMT5c.1224C>G (p.Cys408Trp)
c.1308C>G (p.Cys436Trp)
c.1305C>G (p.Cys435Trp)
14g.60975695G>TCA389919145TRMT5c.1224C>A (p.Cys408Ter)
c.1308C>A (p.Cys436Ter)
c.1305C>A (p.Cys435Ter)
14g.60975696C>ACA389919146TRMT5c.1223G>T (p.Cys408Phe)
c.1307G>T (p.Cys436Phe)
c.1304G>T (p.Cys435Phe)
14g.60975696C>GCA389919147TRMT5c.1223G>C (p.Cys408Ser)
c.1307G>C (p.Cys436Ser)
c.1304G>C (p.Cys435Ser)
14g.60975696C>TCA389919148TRMT5c.1223G>A (p.Cys408Tyr)
c.1307G>A (p.Cys436Tyr)
c.1304G>A (p.Cys435Tyr)
14g.60975697A>CCA389919149TRMT5c.1222T>G (p.Cys408Gly)
c.1306T>G (p.Cys436Gly)
c.1303T>G (p.Cys435Gly)
 gnomAD v4
14g.60975697A>GCA389919151TRMT5c.1222T>C (p.Cys408Arg)
c.1306T>C (p.Cys436Arg)
c.1303T>C (p.Cys435Arg)
14g.60975697A>TCA389919150TRMT5c.1222T>A (p.Cys408Ser)
c.1306T>A (p.Cys436Ser)
c.1303T>A (p.Cys435Ser)
14g.60975698T>ACA486957030TRMT5c.1221A>T (p.Pro407=)
c.1305A>T (p.Pro435=)
c.1302A>T (p.Pro434=)
 gnomAD v4
14g.60975698T>CCA486957034TRMT5c.1221A>G (p.Pro407=)
c.1305A>G (p.Pro435=)
c.1302A>G (p.Pro434=)
 gnomAD v4
14g.60975698T>GCA486957031TRMT5c.1221A>C (p.Pro407=)
c.1305A>C (p.Pro435=)
c.1302A>C (p.Pro434=)
14g.60975699G>ACA389919152TRMT5c.1220C>T (p.Pro407Leu)
c.1304C>T (p.Pro435Leu)
c.1301C>T (p.Pro434Leu)
 gnomAD v4
14g.60975699G>CCA389919153TRMT5c.1220C>G (p.Pro407Arg)
c.1304C>G (p.Pro435Arg)
c.1301C>G (p.Pro434Arg)
14g.60975699G>TCA389919154TRMT5c.1220C>A (p.Pro407Gln)
c.1304C>A (p.Pro435Gln)
c.1301C>A (p.Pro434Gln)
14g.60975700G>ACA389919155TRMT5c.1219C>T (p.Pro407Ser)
c.1303C>T (p.Pro435Ser)
c.1300C>T (p.Pro434Ser)
 gnomAD v4
14g.60975700G>CCA389919156TRMT5c.1219C>G (p.Pro407Ala)
c.1303C>G (p.Pro435Ala)
c.1300C>G (p.Pro434Ala)
14g.60975700G>TCA389919157TRMT5c.1219C>A (p.Pro407Thr)
c.1303C>A (p.Pro435Thr)
c.1300C>A (p.Pro434Thr)
14g.60975701C>ACA389919158TRMT5c.1218G>T (p.Gln406His)
c.1302G>T (p.Gln434His)
c.1299G>T (p.Gln433His)
14g.60975701C=CA2141037474TRMT5c.1218G= (p.Gln406=)
c.1302G= (p.Gln434=)
c.1299G= (p.Gln433=)
14g.60975701C>GCA389919159TRMT5c.1218G>C (p.Gln406His)
c.1302G>C (p.Gln434His)
c.1299G>C (p.Gln433His)
 ClinVar dbSNP
14g.60975701C>TCA486957037TRMT5c.1218G>A (p.Gln406=)
c.1302G>A (p.Gln434=)
c.1299G>A (p.Gln433=)
14g.60975702T>ACA7213750TRMT5c.1217A>T (p.Gln406Leu)
c.1301A>T (p.Gln434Leu)
c.1298A>T (p.Gln433Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975702T>CCA389919160TRMT5c.1217A>G (p.Gln406Arg)
c.1301A>G (p.Gln434Arg)
c.1298A>G (p.Gln433Arg)
14g.60975702T>GCA389919161TRMT5c.1217A>C (p.Gln406Pro)
c.1301A>C (p.Gln434Pro)
c.1298A>C (p.Gln433Pro)
14g.60975702T=CA2141037485TRMT5c.1217A= (p.Gln406=)
c.1301A= (p.Gln434=)
c.1298A= (p.Gln433=)
14g.60975703G>ACA389919164TRMT5c.1216C>T (p.Gln406Ter)
c.1300C>T (p.Gln434Ter)
c.1297C>T (p.Gln433Ter)
 gnomAD v4
14g.60975703G>CCA389919163TRMT5c.1216C>G (p.Gln406Glu)
c.1300C>G (p.Gln434Glu)
c.1297C>G (p.Gln433Glu)
 gnomAD v4
14g.60975703G>TCA389919162TRMT5c.1216C>A (p.Gln406Lys)
c.1300C>A (p.Gln434Lys)
c.1297C>A (p.Gln433Lys)
 gnomAD v4
14g.60975704C>ACA486957042TRMT5c.1215G>T (p.Gly405=)
c.1299G>T (p.Gly433=)
c.1296G>T (p.Gly432=)
14g.60975704C>GCA486957043TRMT5c.1215G>C (p.Gly405=)
c.1299G>C (p.Gly433=)
c.1296G>C (p.Gly432=)
14g.60975704C>TCA486957044TRMT5c.1215G>A (p.Gly405=)
c.1299G>A (p.Gly433=)
c.1296G>A (p.Gly432=)
14g.60975705C>ACA389919167TRMT5c.1214G>T (p.Gly405Val)
c.1298G>T (p.Gly433Val)
c.1295G>T (p.Gly432Val)
14g.60975705C>GCA389919165TRMT5c.1214G>C (p.Gly405Ala)
c.1298G>C (p.Gly433Ala)
c.1295G>C (p.Gly432Ala)
14g.60975705C>TCA389919166TRMT5c.1214G>A (p.Gly405Glu)
c.1298G>A (p.Gly433Glu)
c.1295G>A (p.Gly432Glu)
14g.60975706C>ACA389919168TRMT5c.1213G>T (p.Gly405Trp)
c.1297G>T (p.Gly433Trp)
c.1294G>T (p.Gly432Trp)
14g.60975706C=CA2141037489TRMT5c.1213G= (p.Gly405=)
c.1297G= (p.Gly433=)
c.1294G= (p.Gly432=)
14g.60975706C>GCA389919169TRMT5c.1213G>C (p.Gly405Arg)
c.1297G>C (p.Gly433Arg)
c.1294G>C (p.Gly432Arg)
14g.60975706C>TCA7213751TRMT5c.1213G>A (p.Gly405Arg)
c.1297G>A (p.Gly433Arg)
c.1294G>A (p.Gly432Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975707A>CCA389919170TRMT5c.1212T>G (p.Asp404Glu)
c.1296T>G (p.Asp432Glu)
c.1293T>G (p.Asp431Glu)
14g.60975707A>GCA486957048TRMT5c.1212T>C (p.Asp404=)
c.1296T>C (p.Asp432=)
c.1293T>C (p.Asp431=)
14g.60975707A>TCA389919171TRMT5c.1212T>A (p.Asp404Glu)
c.1296T>A (p.Asp432Glu)
c.1293T>A (p.Asp431Glu)
14g.60975708T>ACA389919174TRMT5c.1211A>T (p.Asp404Val)
c.1295A>T (p.Asp432Val)
c.1292A>T (p.Asp431Val)
 gnomAD v4
14g.60975708T>CCA389919172TRMT5c.1211A>G (p.Asp404Gly)
c.1295A>G (p.Asp432Gly)
c.1292A>G (p.Asp431Gly)
14g.60975708T>GCA389919173TRMT5c.1211A>C (p.Asp404Ala)
c.1295A>C (p.Asp432Ala)
c.1292A>C (p.Asp431Ala)
14g.60975709C>ACA389919175TRMT5c.1210G>T (p.Asp404Tyr)
c.1294G>T (p.Asp432Tyr)
c.1291G>T (p.Asp431Tyr)
14g.60975709C>GCA389919176TRMT5c.1210G>C (p.Asp404His)
c.1294G>C (p.Asp432His)
c.1291G>C (p.Asp431His)
14g.60975709C>TCA389919177TRMT5c.1210G>A (p.Asp404Asn)
c.1294G>A (p.Asp432Asn)
c.1291G>A (p.Asp431Asn)
14g.60975710T>ACA389919178TRMT5c.1209A>T (p.Leu403Phe)
c.1293A>T (p.Leu431Phe)
c.1290A>T (p.Leu430Phe)
14g.60975710T>CCA486957051TRMT5c.1209A>G (p.Leu403=)
c.1293A>G (p.Leu431=)
c.1290A>G (p.Leu430=)
 gnomAD v4
14g.60975710T>GCA261750319TRMT5c.1209A>C (p.Leu403Phe)
c.1293A>C (p.Leu431Phe)
c.1290A>C (p.Leu430Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.60975710T=CA2141037496TRMT5c.1209A= (p.Leu403=)
c.1293A= (p.Leu431=)
c.1290A= (p.Leu430=)
14g.60975711A>CCA389919181TRMT5c.1208T>G (p.Leu403Ter)
c.1292T>G (p.Leu431Ter)
c.1289T>G (p.Leu430Ter)
14g.60975711A>GCA389919179TRMT5c.1208T>C (p.Leu403Ser)
c.1292T>C (p.Leu431Ser)
c.1289T>C (p.Leu430Ser)
14g.60975711A>TCA389919180TRMT5c.1208T>A (p.Leu403Ter)
c.1292T>A (p.Leu431Ter)
c.1289T>A (p.Leu430Ter)
14g.60975712A>CCA389919182TRMT5c.1207T>G (p.Leu403Val)
c.1291T>G (p.Leu431Val)
c.1288T>G (p.Leu430Val)
14g.60975712A>GCA486957053TRMT5c.1207T>C (p.Leu403=)
c.1291T>C (p.Leu431=)
c.1288T>C (p.Leu430=)
14g.60975712A>TCA389919183TRMT5c.1207T>A (p.Leu403Ile)
c.1291T>A (p.Leu431Ile)
c.1288T>A (p.Leu430Ile)
14g.60975713A>CCA486957055TRMT5c.1206T>G (p.Leu402=)
c.1290T>G (p.Leu430=)
c.1287T>G (p.Leu429=)
14g.60975713A>GCA486957058TRMT5c.1206T>C (p.Leu402=)
c.1290T>C (p.Leu430=)
c.1287T>C (p.Leu429=)
14g.60975713A>TCA486957060TRMT5c.1206T>A (p.Leu402=)
c.1290T>A (p.Leu430=)
c.1287T>A (p.Leu429=)
14g.60975714A>CCA389919184TRMT5c.1205T>G (p.Leu402Arg)
c.1289T>G (p.Leu430Arg)
c.1286T>G (p.Leu429Arg)
14g.60975714A>GCA389919185TRMT5c.1205T>C (p.Leu402Pro)
c.1289T>C (p.Leu430Pro)
c.1286T>C (p.Leu429Pro)
14g.60975714A>TCA389919186TRMT5c.1205T>A (p.Leu402His)
c.1289T>A (p.Leu430His)
c.1286T>A (p.Leu429His)
14g.60975715G>ACA389919188TRMT5c.1204C>T (p.Leu402Phe)
c.1288C>T (p.Leu430Phe)
c.1285C>T (p.Leu429Phe)
14g.60975715G>CCA389919187TRMT5c.1204C>G (p.Leu402Val)
c.1288C>G (p.Leu430Val)
c.1285C>G (p.Leu429Val)
 dbSNP
14g.60975715G=CA2141037504TRMT5c.1204C= (p.Leu402=)
c.1288C= (p.Leu430=)
c.1285C= (p.Leu429=)
14g.60975715G>TCA261750324TRMT5c.1204C>A (p.Leu402Ile)
c.1288C>A (p.Leu430Ile)
c.1285C>A (p.Leu429Ile)
 dbSNP gnomAD v4
14g.60975715_60975716insTGCA2534400264TRMT5c.1204_1205insAC (p.Leu402HisfsTer3)
c.1288_1289insAC (p.Leu430HisfsTer3)
c.1285_1286insAC (p.Leu429HisfsTer3)
14g.60975716C>ACA389919189TRMT5c.1203G>T (p.Trp401Cys)
c.1287G>T (p.Trp429Cys)
c.1284G>T (p.Trp428Cys)
 gnomAD v4
14g.60975716C>GCA389919190TRMT5c.1203G>C (p.Trp401Cys)
c.1287G>C (p.Trp429Cys)
c.1284G>C (p.Trp428Cys)
14g.60975716C>TCA389919191TRMT5c.1203G>A (p.Trp401Ter)
c.1287G>A (p.Trp429Ter)
c.1284G>A (p.Trp428Ter)
14g.60975717C>ACA389919192TRMT5c.1202G>T (p.Trp401Leu)
c.1286G>T (p.Trp429Leu)
c.1283G>T (p.Trp428Leu)
14g.60975717C>GCA389919193TRMT5c.1202G>C (p.Trp401Ser)
c.1286G>C (p.Trp429Ser)
c.1283G>C (p.Trp428Ser)
 gnomAD v4
14g.60975717C>TCA389919194TRMT5c.1202G>A (p.Trp401Ter)
c.1286G>A (p.Trp429Ter)
c.1283G>A (p.Trp428Ter)
14g.60975718A=CA2141037517TRMT5c.1201T= (p.Trp401=)
c.1285T= (p.Trp429=)
c.1282T= (p.Trp428=)
14g.60975718A>CCA389919195TRMT5c.1201T>G (p.Trp401Gly)
c.1285T>G (p.Trp429Gly)
c.1282T>G (p.Trp428Gly)
 dbSNP
14g.60975718A>GCA389919197TRMT5c.1201T>C (p.Trp401Arg)
c.1285T>C (p.Trp429Arg)
c.1282T>C (p.Trp428Arg)
14g.60975718A>TCA389919196TRMT5c.1201T>A (p.Trp401Arg)
c.1285T>A (p.Trp429Arg)
c.1282T>A (p.Trp428Arg)
14g.60975719C>ACA389919198TRMT5c.1200G>T (p.Lys400Asn)
c.1284G>T (p.Lys428Asn)
c.1281G>T (p.Lys427Asn)
14g.60975719C=CA2141037525TRMT5c.1200G= (p.Lys400=)
c.1284G= (p.Lys428=)
c.1281G= (p.Lys427=)
14g.60975719C>GCA389919199TRMT5c.1200G>C (p.Lys400Asn)
c.1284G>C (p.Lys428Asn)
c.1281G>C (p.Lys427Asn)
14g.60975719C>TCA486957066TRMT5c.1200G>A (p.Lys400=)
c.1284G>A (p.Lys428=)
c.1281G>A (p.Lys427=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.60975720T>ACA389919200TRMT5c.1199A>T (p.Lys400Met)
c.1283A>T (p.Lys428Met)
c.1280A>T (p.Lys427Met)
14g.60975720T>CCA389919201TRMT5c.1199A>G (p.Lys400Arg)
c.1283A>G (p.Lys428Arg)
c.1280A>G (p.Lys427Arg)
 gnomAD v4
14g.60975720T>GCA389919202TRMT5c.1199A>C (p.Lys400Thr)
c.1283A>C (p.Lys428Thr)
c.1280A>C (p.Lys427Thr)
14g.60975721T>ACA389919203TRMT5c.1198A>T (p.Lys400Ter)
c.1282A>T (p.Lys428Ter)
c.1279A>T (p.Lys427Ter)
14g.60975721T>CCA389919204TRMT5c.1198A>G (p.Lys400Glu)
c.1282A>G (p.Lys428Glu)
c.1279A>G (p.Lys427Glu)
14g.60975721T>GCA389919205TRMT5c.1198A>C (p.Lys400Gln)
c.1282A>C (p.Lys428Gln)
c.1279A>C (p.Lys427Gln)
14g.60975722G>ACA486957071TRMT5c.1197C>T (p.Phe399=)
c.1281C>T (p.Phe427=)
c.1278C>T (p.Phe426=)
 gnomAD v4
14g.60975722G>CCA389919206TRMT5c.1197C>G (p.Phe399Leu)
c.1281C>G (p.Phe427Leu)
c.1278C>G (p.Phe426Leu)
14g.60975722G>TCA389919207TRMT5c.1197C>A (p.Phe399Leu)
c.1281C>A (p.Phe427Leu)
c.1278C>A (p.Phe426Leu)
14g.60975722_60975723delinsGACA2141037526TRMT5c.1196_1197delinsTC (p.Phe399=)
c.1280_1281delinsTC (p.Phe427=)
c.1277_1278delinsTC (p.Phe426=)
14g.60975723A>CCA389919208TRMT5c.1196T>G (p.Phe399Cys)
c.1280T>G (p.Phe427Cys)
c.1277T>G (p.Phe426Cys)
14g.60975723A>GCA389919209TRMT5c.1196T>C (p.Phe399Ser)
c.1280T>C (p.Phe427Ser)
c.1277T>C (p.Phe426Ser)
14g.60975723A>TCA389919210TRMT5c.1196T>A (p.Phe399Tyr)
c.1280T>A (p.Phe427Tyr)
c.1277T>A (p.Phe426Tyr)
14g.60975725delCA963756148TRMT5c.1196del (p.Phe399SerfsTer5)
c.1280del (p.Phe427SerfsTer5)
c.1277del (p.Phe426SerfsTer5)
 dbSNP gnomAD v3 gnomAD v4
14g.60975724A>CCA389919213TRMT5c.1195T>G (p.Phe399Val)
c.1279T>G (p.Phe427Val)
c.1276T>G (p.Phe426Val)
 gnomAD v4
14g.60975724A>GCA389919211TRMT5c.1195T>C (p.Phe399Leu)
c.1279T>C (p.Phe427Leu)
c.1276T>C (p.Phe426Leu)
14g.60975724A>TCA389919212TRMT5c.1195T>A (p.Phe399Ile)
c.1279T>A (p.Phe427Ile)
c.1276T>A (p.Phe426Ile)
14g.60975725A>CCA486957075TRMT5c.1194T>G (p.Ala398=)
c.1278T>G (p.Ala426=)
c.1275T>G (p.Ala425=)
14g.60975725A>GCA486957077TRMT5c.1194T>C (p.Ala398=)
c.1278T>C (p.Ala426=)
c.1275T>C (p.Ala425=)
14g.60975725A>TCA486957076TRMT5c.1194T>A (p.Ala398=)
c.1278T>A (p.Ala426=)
c.1275T>A (p.Ala425=)
14g.60975726G>ACA389919214TRMT5c.1193C>T (p.Ala398Val)
c.1277C>T (p.Ala426Val)
c.1274C>T (p.Ala425Val)
 dbSNP gnomAD v2 gnomAD v4
14g.60975726G>CCA389919215TRMT5c.1193C>G (p.Ala398Gly)
c.1277C>G (p.Ala426Gly)
c.1274C>G (p.Ala425Gly)
14g.60975726G=CA2141037530TRMT5c.1193C= (p.Ala398=)
c.1277C= (p.Ala426=)
c.1274C= (p.Ala425=)
14g.60975726G>TCA389919216TRMT5c.1193C>A (p.Ala398Asp)
c.1277C>A (p.Ala426Asp)
c.1274C>A (p.Ala425Asp)
14g.60975727C>ACA389919217TRMT5c.1192G>T (p.Ala398Ser)
c.1276G>T (p.Ala426Ser)
c.1273G>T (p.Ala425Ser)
14g.60975727C=CA2141037533TRMT5c.1192G= (p.Ala398=)
c.1276G= (p.Ala426=)
c.1273G= (p.Ala425=)
14g.60975727C>GCA389919218TRMT5c.1192G>C (p.Ala398Pro)
c.1276G>C (p.Ala426Pro)
c.1273G>C (p.Ala425Pro)
14g.60975727C>TCA7213752TRMT5c.1192G>A (p.Ala398Thr)
c.1276G>A (p.Ala426Thr)
c.1273G>A (p.Ala425Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975728A=CA2141037537TRMT5c.1191T= (p.Ser397=)
c.1275T= (p.Ser425=)
c.1272T= (p.Ser424=)
14g.60975728A>CCA389919219TRMT5c.1191T>G (p.Ser397Arg)
c.1275T>G (p.Ser425Arg)
c.1272T>G (p.Ser424Arg)
14g.60975728A>GCA261750327TRMT5c.1191T>C (p.Ser397=)
c.1275T>C (p.Ser425=)
c.1272T>C (p.Ser424=)
 dbSNP
14g.60975728A>TCA389919220TRMT5c.1191T>A (p.Ser397Arg)
c.1275T>A (p.Ser425Arg)
c.1272T>A (p.Ser424Arg)
14g.60975729C>ACA389919221TRMT5c.1190G>T (p.Ser397Ile)
c.1274G>T (p.Ser425Ile)
c.1271G>T (p.Ser424Ile)
14g.60975729C>GCA389919222TRMT5c.1190G>C (p.Ser397Thr)
c.1274G>C (p.Ser425Thr)
c.1271G>C (p.Ser424Thr)
14g.60975729C>TCA389919223TRMT5c.1190G>A (p.Ser397Asn)
c.1274G>A (p.Ser425Asn)
c.1271G>A (p.Ser424Asn)
14g.60975730T>ACA389919225TRMT5c.1189A>T (p.Ser397Cys)
c.1273A>T (p.Ser425Cys)
c.1270A>T (p.Ser424Cys)
14g.60975730T>CCA389919224TRMT5c.1189A>G (p.Ser397Gly)
c.1273A>G (p.Ser425Gly)
c.1270A>G (p.Ser424Gly)
 dbSNP gnomAD v3 gnomAD v4
14g.60975730T>GCA7213753TRMT5c.1189A>C (p.Ser397Arg)
c.1273A>C (p.Ser425Arg)
c.1270A>C (p.Ser424Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975730T=CA2141037543TRMT5c.1189A= (p.Ser397=)
c.1273A= (p.Ser425=)
c.1270A= (p.Ser424=)
14g.60975731A>CCA486957086TRMT5c.1188T>G (p.Leu396=)
c.1272T>G (p.Leu424=)
c.1269T>G (p.Leu423=)
14g.60975731A>GCA486957084TRMT5c.1188T>C (p.Leu396=)
c.1272T>C (p.Leu424=)
c.1269T>C (p.Leu423=)
 gnomAD v4
14g.60975731A>TCA486957085TRMT5c.1188T>A (p.Leu396=)
c.1272T>A (p.Leu424=)
c.1269T>A (p.Leu423=)
14g.60975732A>CCA389919226TRMT5c.1187T>G (p.Leu396Arg)
c.1271T>G (p.Leu424Arg)
c.1268T>G (p.Leu423Arg)
14g.60975732A>GCA389919227TRMT5c.1187T>C (p.Leu396Pro)
c.1271T>C (p.Leu424Pro)
c.1268T>C (p.Leu423Pro)
14g.60975732A>TCA389919228TRMT5c.1187T>A (p.Leu396His)
c.1271T>A (p.Leu424His)
c.1268T>A (p.Leu423His)
14g.60975733_60975734delCA2575544457TRMT5c.1186_1187del (p.Leu396Ter)
c.1270_1271del (p.Leu424Ter)
c.1267_1268del (p.Leu423Ter)
14g.60975733G>ACA389919229TRMT5c.1186C>T (p.Leu396Phe)
c.1270C>T (p.Leu424Phe)
c.1267C>T (p.Leu423Phe)
14g.60975733G>CCA389919230TRMT5c.1186C>G (p.Leu396Val)
c.1270C>G (p.Leu424Val)
c.1267C>G (p.Leu423Val)
14g.60975733G=CA2141037547TRMT5c.1186C= (p.Leu396=)
c.1270C= (p.Leu424=)
c.1267C= (p.Leu423=)
14g.60975733G>TCA389919231TRMT5c.1186C>A (p.Leu396Ile)
c.1270C>A (p.Leu424Ile)
c.1267C>A (p.Leu423Ile)
14g.60975733_60975734insTGCTCA7213754TRMT5c.1185_1186insAGCA (p.Leu396SerfsTer3)
c.1269_1270insAGCA (p.Leu424SerfsTer3)
c.1266_1267insAGCA (p.Leu423SerfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975734A>CCA389919233TRMT5c.1185T>G (p.Phe395Leu)
c.1269T>G (p.Phe423Leu)
c.1266T>G (p.Phe422Leu)
14g.60975734A>GCA486957091TRMT5c.1185T>C (p.Phe395=)
c.1269T>C (p.Phe423=)
c.1266T>C (p.Phe422=)
14g.60975734A>TCA389919232TRMT5c.1185T>A (p.Phe395Leu)
c.1269T>A (p.Phe423Leu)
c.1266T>A (p.Phe422Leu)
14g.60975735A>CCA389919234TRMT5c.1184T>G (p.Phe395Cys)
c.1268T>G (p.Phe423Cys)
c.1265T>G (p.Phe422Cys)
 COSMIC
14g.60975735A>GCA389919235TRMT5c.1184T>C (p.Phe395Ser)
c.1268T>C (p.Phe423Ser)
c.1265T>C (p.Phe422Ser)
14g.60975735A>TCA389919236TRMT5c.1184T>A (p.Phe395Tyr)
c.1268T>A (p.Phe423Tyr)
c.1265T>A (p.Phe422Tyr)
14g.60975736A=CA2141037559TRMT5c.1183T= (p.Phe395=)
c.1267T= (p.Phe423=)
c.1264T= (p.Phe422=)
14g.60975736A>CCA389919237TRMT5c.1183T>G (p.Phe395Val)
c.1267T>G (p.Phe423Val)
c.1264T>G (p.Phe422Val)
14g.60975736A>GCA389919238TRMT5c.1183T>C (p.Phe395Leu)
c.1267T>C (p.Phe423Leu)
c.1264T>C (p.Phe422Leu)
14g.60975736A>TCA389919239TRMT5c.1183T>A (p.Phe395Ile)
c.1267T>A (p.Phe423Ile)
c.1264T>A (p.Phe422Ile)
14g.60975736_60975738delinsACTCA2141037562TRMT5c.1181_1183delinsAGT (p.Glu394=)
c.1265_1267delinsAGT (p.Glu422=)
c.1262_1264delinsAGT (p.Glu421=)
14g.60975736_60975737insAGCA7213755TRMT5c.1182_1183insCT (p.Phe395LeufsTer10)
c.1266_1267insCT (p.Phe423LeufsTer10)
c.1263_1264insCT (p.Phe422LeufsTer10)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975737C>ACA389919241TRMT5c.1182G>T (p.Glu394Asp)
c.1266G>T (p.Glu422Asp)
c.1263G>T (p.Glu421Asp)
14g.60975737C>GCA389919240TRMT5c.1182G>C (p.Glu394Asp)
c.1266G>C (p.Glu422Asp)
c.1263G>C (p.Glu421Asp)
14g.60975737C>TCA486957096TRMT5c.1182G>A (p.Glu394=)
c.1266G>A (p.Glu422=)
c.1263G>A (p.Glu421=)
14g.60975739_60975740delCA2141037572TRMT5c.1181_1182del (p.Glu394ValfsTer3)
c.1265_1266del (p.Glu422ValfsTer3)
c.1262_1263del (p.Glu421ValfsTer3)
 dbSNP gnomAD v4
14g.60975738T>ACA7213756TRMT5c.1181A>T (p.Glu394Val)
c.1265A>T (p.Glu422Val)
c.1262A>T (p.Glu421Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975738T>CCA389919242TRMT5c.1181A>G (p.Glu394Gly)
c.1265A>G (p.Glu422Gly)
c.1262A>G (p.Glu421Gly)
14g.60975738T>GCA389919243TRMT5c.1181A>C (p.Glu394Ala)
c.1265A>C (p.Glu422Ala)
c.1262A>C (p.Glu421Ala)
14g.60975738T=CA2141037574TRMT5c.1181A= (p.Glu394=)
c.1265A= (p.Glu422=)
c.1262A= (p.Glu421=)
14g.60975739C>ACA389919244TRMT5c.1180G>T (p.Glu394Ter)
c.1264G>T (p.Glu422Ter)
c.1261G>T (p.Glu421Ter)
14g.60975739C=CA2141037577TRMT5c.1180G= (p.Glu394=)
c.1264G= (p.Glu422=)
c.1261G= (p.Glu421=)
14g.60975739C>GCA7213757TRMT5c.1180G>C (p.Glu394Gln)
c.1264G>C (p.Glu422Gln)
c.1261G>C (p.Glu421Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975739C>TCA389919245TRMT5c.1180G>A (p.Glu394Lys)
c.1264G>A (p.Glu422Lys)
c.1261G>A (p.Glu421Lys)
14g.60975740T>ACA7213758TRMT5c.1179A>T (p.Ile393=)
c.1263A>T (p.Ile421=)
c.1260A>T (p.Ile420=)
 dbSNP ExAC gnomAD v2
14g.60975740T>CCA389919246TRMT5c.1179A>G (p.Ile393Met)
c.1263A>G (p.Ile421Met)
c.1260A>G (p.Ile420Met)
 gnomAD v4
14g.60975740T>GCA486957103TRMT5c.1179A>C (p.Ile393=)
c.1263A>C (p.Ile421=)
c.1260A>C (p.Ile420=)
14g.60975740T=CA2141037585TRMT5c.1179A= (p.Ile393=)
c.1263A= (p.Ile421=)
c.1260A= (p.Ile420=)
14g.60975741A=CA2141037593TRMT5c.1178T= (p.Ile393=)
c.1262T= (p.Ile421=)
c.1259T= (p.Ile420=)
14g.60975741A>CCA389919247TRMT5c.1178T>G (p.Ile393Arg)
c.1262T>G (p.Ile421Arg)
c.1259T>G (p.Ile420Arg)
 COSMIC
14g.60975741A>GCA389919248TRMT5c.1178T>C (p.Ile393Thr)
c.1262T>C (p.Ile421Thr)
c.1259T>C (p.Ile420Thr)
 dbSNP gnomAD v4
14g.60975741A>TCA389919249TRMT5c.1178T>A (p.Ile393Lys)
c.1262T>A (p.Ile421Lys)
c.1259T>A (p.Ile420Lys)
14g.60975741_60975742delinsATCA2141037597TRMT5c.1177_1178delinsAT (p.Ile393=)
c.1261_1262delinsAT (p.Ile421=)
c.1258_1259delinsAT (p.Ile420=)
14g.60975742delCA7213759TRMT5c.1177del (p.Ile393Ter)
c.1261del (p.Ile421Ter)
c.1258del (p.Ile420Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975742T>ACA389919251TRMT5c.1177A>T (p.Ile393Leu)
c.1261A>T (p.Ile421Leu)
c.1258A>T (p.Ile420Leu)
14g.60975742T>CCA7213760TRMT5c.1177A>G (p.Ile393Val)
c.1261A>G (p.Ile421Val)
c.1258A>G (p.Ile420Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975742T>GCA389919250TRMT5c.1177A>C (p.Ile393Leu)
c.1261A>C (p.Ile421Leu)
c.1258A>C (p.Ile420Leu)
14g.60975742T=CA2141037604TRMT5c.1177A= (p.Ile393=)
c.1261A= (p.Ile421=)
c.1258A= (p.Ile420=)
14g.60975743A>CCA486957108TRMT5c.1176T>G (p.Ala392=)
c.1260T>G (p.Ala420=)
c.1257T>G (p.Ala419=)
14g.60975743A>GCA486957109TRMT5c.1176T>C (p.Ala392=)
c.1260T>C (p.Ala420=)
c.1257T>C (p.Ala419=)
 gnomAD v4
14g.60975743A>TCA486957110TRMT5c.1176T>A (p.Ala392=)
c.1260T>A (p.Ala420=)
c.1257T>A (p.Ala419=)
14g.60975744G>ACA389919252TRMT5c.1175C>T (p.Ala392Val)
c.1259C>T (p.Ala420Val)
c.1256C>T (p.Ala419Val)
14g.60975744G>CCA389919253TRMT5c.1175C>G (p.Ala392Gly)
c.1259C>G (p.Ala420Gly)
c.1256C>G (p.Ala419Gly)
14g.60975744G>TCA389919254TRMT5c.1175C>A (p.Ala392Asp)
c.1259C>A (p.Ala420Asp)
c.1256C>A (p.Ala419Asp)
14g.60975745C>ACA389919255TRMT5c.1174G>T (p.Ala392Ser)
c.1258G>T (p.Ala420Ser)
c.1255G>T (p.Ala419Ser)
14g.60975745C>GCA389919256TRMT5c.1174G>C (p.Ala392Pro)
c.1258G>C (p.Ala420Pro)
c.1255G>C (p.Ala419Pro)
14g.60975745C>TCA389919257TRMT5c.1174G>A (p.Ala392Thr)
c.1258G>A (p.Ala420Thr)
c.1255G>A (p.Ala419Thr)
14g.60975746T>ACA389919259TRMT5c.1173A>T (p.Lys391Asn)
c.1257A>T (p.Lys419Asn)
c.1254A>T (p.Lys418Asn)
 gnomAD v4
14g.60975746T>CCA486957112TRMT5c.1173A>G (p.Lys391=)
c.1257A>G (p.Lys419=)
c.1254A>G (p.Lys418=)
14g.60975746T>GCA389919258TRMT5c.1173A>C (p.Lys391Asn)
c.1257A>C (p.Lys419Asn)
c.1254A>C (p.Lys418Asn)
 dbSNP
14g.60975746T=CA2141037612TRMT5c.1173A= (p.Lys391=)
c.1257A= (p.Lys419=)
c.1254A= (p.Lys418=)
14g.60975747T>ACA389919260TRMT5c.1172A>T (p.Lys391Ile)
c.1256A>T (p.Lys419Ile)
c.1253A>T (p.Lys418Ile)
14g.60975747T>CCA389919261TRMT5c.1172A>G (p.Lys391Arg)
c.1256A>G (p.Lys419Arg)
c.1253A>G (p.Lys418Arg)
14g.60975747T>GCA389919262TRMT5c.1172A>C (p.Lys391Thr)
c.1256A>C (p.Lys419Thr)
c.1253A>C (p.Lys418Thr)
14g.60975748T>ACA389919263TRMT5c.1171A>T (p.Lys391Ter)
c.1255A>T (p.Lys419Ter)
c.1252A>T (p.Lys418Ter)
14g.60975748T>CCA389919264TRMT5c.1171A>G (p.Lys391Glu)
c.1255A>G (p.Lys419Glu)
c.1252A>G (p.Lys418Glu)
 ClinVar
14g.60975748T>GCA389919265TRMT5c.1171A>C (p.Lys391Gln)
c.1255A>C (p.Lys419Gln)
c.1252A>C (p.Lys418Gln)
14g.60975749T>ACA486957114TRMT5c.1170A>T (p.Ala390=)
c.1254A>T (p.Ala418=)
c.1251A>T (p.Ala417=)
14g.60975749T>CCA486957115TRMT5c.1170A>G (p.Ala390=)
c.1254A>G (p.Ala418=)
c.1251A>G (p.Ala417=)
14g.60975749T>GCA486957116TRMT5c.1170A>C (p.Ala390=)
c.1254A>C (p.Ala418=)
c.1251A>C (p.Ala417=)
14g.60975750G>ACA389919266TRMT5c.1169C>T (p.Ala390Val)
c.1253C>T (p.Ala418Val)
c.1250C>T (p.Ala417Val)
14g.60975750G>CCA389919268TRMT5c.1169C>G (p.Ala390Gly)
c.1253C>G (p.Ala418Gly)
c.1250C>G (p.Ala417Gly)
14g.60975750G>TCA389919267TRMT5c.1169C>A (p.Ala390Glu)
c.1253C>A (p.Ala418Glu)
c.1250C>A (p.Ala417Glu)
14g.60975751C>ACA389919269TRMT5c.1168G>T (p.Ala390Ser)
c.1252G>T (p.Ala418Ser)
c.1249G>T (p.Ala417Ser)
14g.60975751C>GCA389919270TRMT5c.1168G>C (p.Ala390Pro)
c.1252G>C (p.Ala418Pro)
c.1249G>C (p.Ala417Pro)
14g.60975751C>TCA389919271TRMT5c.1168G>A (p.Ala390Thr)
c.1252G>A (p.Ala418Thr)
c.1249G>A (p.Ala417Thr)
14g.60975752T>ACA486957118TRMT5c.1167A>T (p.Pro389=)
c.1251A>T (p.Pro417=)
c.1248A>T (p.Pro416=)
14g.60975752T>CCA486957119TRMT5c.1167A>G (p.Pro389=)
c.1251A>G (p.Pro417=)
c.1248A>G (p.Pro416=)
14g.60975752T>GCA486957120TRMT5c.1167A>C (p.Pro389=)
c.1251A>C (p.Pro417=)
c.1248A>C (p.Pro416=)
14g.60975753G>ACA389919272TRMT5c.1166C>T (p.Pro389Leu)
c.1250C>T (p.Pro417Leu)
c.1247C>T (p.Pro416Leu)
14g.60975753G>CCA389919273TRMT5c.1166C>G (p.Pro389Arg)
c.1250C>G (p.Pro417Arg)
c.1247C>G (p.Pro416Arg)
14g.60975753G>TCA389919274TRMT5c.1166C>A (p.Pro389Gln)
c.1250C>A (p.Pro417Gln)
c.1247C>A (p.Pro416Gln)
14g.60975754G>ACA389919275TRMT5c.1165C>T (p.Pro389Ser)
c.1249C>T (p.Pro417Ser)
c.1246C>T (p.Pro416Ser)
14g.60975754G>CCA389919276TRMT5c.1165C>G (p.Pro389Ala)
c.1249C>G (p.Pro417Ala)
c.1246C>G (p.Pro416Ala)
14g.60975754G>TCA389919277TRMT5c.1165C>A (p.Pro389Thr)
c.1249C>A (p.Pro417Thr)
c.1246C>A (p.Pro416Thr)
14g.60975755C>ACA389919278TRMT5c.1164G>T (p.Leu388Phe)
c.1248G>T (p.Leu416Phe)
c.1245G>T (p.Leu415Phe)
 COSMIC
14g.60975755C=CA2141037615TRMT5c.1164G= (p.Leu388=)
c.1248G= (p.Leu416=)
c.1245G= (p.Leu415=)
14g.60975755C>GCA7213761TRMT5c.1164G>C (p.Leu388Phe)
c.1248G>C (p.Leu416Phe)
c.1245G>C (p.Leu415Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975755C>TCA486957124TRMT5c.1164G>A (p.Leu388=)
c.1248G>A (p.Leu416=)
c.1245G>A (p.Leu415=)
 gnomAD v4
14g.60975756A>CCA389919279TRMT5c.1163T>G (p.Leu388Trp)
c.1247T>G (p.Leu416Trp)
c.1244T>G (p.Leu415Trp)
14g.60975756A>GCA389919281TRMT5c.1163T>C (p.Leu388Ser)
c.1247T>C (p.Leu416Ser)
c.1244T>C (p.Leu415Ser)
14g.60975756A>TCA389919280TRMT5c.1163T>A (p.Leu388Ter)
c.1247T>A (p.Leu416Ter)
c.1244T>A (p.Leu415Ter)
14g.60975757A>CCA389919282TRMT5c.1162T>G (p.Leu388Val)
c.1246T>G (p.Leu416Val)
c.1243T>G (p.Leu415Val)
14g.60975757A>GCA486957129TRMT5c.1162T>C (p.Leu388=)
c.1246T>C (p.Leu416=)
c.1243T>C (p.Leu415=)
 gnomAD v4
14g.60975757A>TCA389919283TRMT5c.1162T>A (p.Leu388Met)
c.1246T>A (p.Leu416Met)
c.1243T>A (p.Leu415Met)
14g.60975758G>ACA486957130TRMT5c.1161C>T (p.Asn387=)
c.1245C>T (p.Asn415=)
c.1242C>T (p.Asn414=)
 gnomAD v4
14g.60975758G>CCA7213762TRMT5c.1161C>G (p.Asn387Lys)
c.1245C>G (p.Asn415Lys)
c.1242C>G (p.Asn414Lys)
 dbSNP ExAC gnomAD v2
14g.60975758G=CA2141037620TRMT5c.1161C= (p.Asn387=)
c.1245C= (p.Asn415=)
c.1242C= (p.Asn414=)
14g.60975758G>TCA389919284TRMT5c.1161C>A (p.Asn387Lys)
c.1245C>A (p.Asn415Lys)
c.1242C>A (p.Asn414Lys)
14g.60975759T>ACA389919285TRMT5c.1160A>T (p.Asn387Ile)
c.1244A>T (p.Asn415Ile)
c.1241A>T (p.Asn414Ile)
14g.60975759T>CCA389919286TRMT5c.1160A>G (p.Asn387Ser)
c.1244A>G (p.Asn415Ser)
c.1241A>G (p.Asn414Ser)
14g.60975759T>GCA389919287TRMT5c.1160A>C (p.Asn387Thr)
c.1244A>C (p.Asn415Thr)
c.1241A>C (p.Asn414Thr)
14g.60975760T>ACA389919288TRMT5c.1159A>T (p.Asn387Tyr)
c.1243A>T (p.Asn415Tyr)
c.1240A>T (p.Asn414Tyr)
14g.60975760T>CCA389919289TRMT5c.1159A>G (p.Asn387Asp)
c.1243A>G (p.Asn415Asp)
c.1240A>G (p.Asn414Asp)
14g.60975760T>GCA389919290TRMT5c.1159A>C (p.Asn387His)
c.1243A>C (p.Asn415His)
c.1240A>C (p.Asn414His)
14g.60975761C>ACA389919291TRMT5c.1158G>T (p.Met386Ile)
c.1242G>T (p.Met414Ile)
c.1239G>T (p.Met413Ile)
 COSMIC
14g.60975761C>GCA389919292TRMT5c.1158G>C (p.Met386Ile)
c.1242G>C (p.Met414Ile)
c.1239G>C (p.Met413Ile)
14g.60975761C>TCA389919293TRMT5c.1158G>A (p.Met386Ile)
c.1242G>A (p.Met414Ile)
c.1239G>A (p.Met413Ile)
14g.60975762A>CCA389919296TRMT5c.1157T>G (p.Met386Arg)
c.1241T>G (p.Met414Arg)
c.1238T>G (p.Met413Arg)
 gnomAD v4
14g.60975762A>GCA389919295TRMT5c.1157T>C (p.Met386Thr)
c.1241T>C (p.Met414Thr)
c.1238T>C (p.Met413Thr)
14g.60975762A>TCA389919294TRMT5c.1157T>A (p.Met386Lys)
c.1241T>A (p.Met414Lys)
c.1238T>A (p.Met413Lys)
14g.60975763T>ACA389919297TRMT5c.1156A>T (p.Met386Leu)
c.1240A>T (p.Met414Leu)
c.1237A>T (p.Met413Leu)
14g.60975763T>CCA16042261TRMT5c.1156A>G (p.Met386Val)
c.1240A>G (p.Met414Val)
c.1237A>G (p.Met413Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.60975763T>GCA389919298TRMT5c.1156A>C (p.Met386Leu)
c.1240A>C (p.Met414Leu)
c.1237A>C (p.Met413Leu)
 gnomAD v4
14g.60975763T=CA2141037629TRMT5c.1156A= (p.Met386=)
c.1240A= (p.Met414=)
c.1237A= (p.Met413=)
14g.60975764G>ACA486957131TRMT5c.1155C>T (p.Val385=)
c.1239C>T (p.Val413=)
c.1236C>T (p.Val412=)
14g.60975764G>CCA7213763TRMT5c.1155C>G (p.Val385=)
c.1239C>G (p.Val413=)
c.1236C>G (p.Val412=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60975764G=CA2141037639TRMT5c.1155C= (p.Val385=)
c.1239C= (p.Val413=)
c.1236C= (p.Val412=)
14g.60975764G>TCA486957132TRMT5c.1155C>A (p.Val385=)
c.1239C>A (p.Val413=)
c.1236C>A (p.Val412=)
14g.60975765A>CCA389919299TRMT5c.1154T>G (p.Val385Gly)
c.1238T>G (p.Val413Gly)
c.1235T>G (p.Val412Gly)
14g.60975765A>GCA389919300TRMT5c.1154T>C (p.Val385Ala)
c.1238T>C (p.Val413Ala)
c.1235T>C (p.Val412Ala)
14g.60975765A>TCA389919301TRMT5c.1154T>A (p.Val385Asp)
c.1238T>A (p.Val413Asp)
c.1235T>A (p.Val412Asp)
14g.60975766C>ACA389919302TRMT5c.1153G>T (p.Val385Phe)
c.1237G>T (p.Val413Phe)
c.1234G>T (p.Val412Phe)
14g.60975766C=CA2141037646TRMT5c.1153G= (p.Val385=)
c.1237G= (p.Val413=)
c.1234G= (p.Val412=)
14g.60975766C>GCA389919303TRMT5c.1153G>C (p.Val385Leu)
c.1237G>C (p.Val413Leu)
c.1234G>C (p.Val412Leu)
14g.60975766C>TCA7213764TRMT5c.1153G>A (p.Val385Ile)
c.1237G>A (p.Val413Ile)
c.1234G>A (p.Val412Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
14g.60975767A>CCA486957135TRMT5c.1152T>G (p.Val384=)
c.1236T>G (p.Val412=)
c.1233T>G (p.Val411=)
14g.60975767A>GCA486957136TRMT5c.1152T>C (p.Val384=)
c.1236T>C (p.Val412=)
c.1233T>C (p.Val411=)
14g.60975767A>TCA486957137TRMT5c.1152T>A (p.Val384=)
c.1236T>A (p.Val412=)
c.1233T>A (p.Val411=)
14g.60975768A=CA2141037656TRMT5c.1151T= (p.Val384=)
c.1235T= (p.Val412=)
c.1232T= (p.Val411=)
14g.60975768A>CCA389919304TRMT5c.1151T>G (p.Val384Gly)
c.1235T>G (p.Val412Gly)
c.1232T>G (p.Val411Gly)
14g.60975768A>GCA7213765TRMT5c.1151T>C (p.Val384Ala)
c.1235T>C (p.Val412Ala)
c.1232T>C (p.Val411Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60975768A>TCA389919305TRMT5c.1151T>A (p.Val384Asp)
c.1235T>A (p.Val412Asp)
c.1232T>A (p.Val411Asp)

Number of alleles fetched