Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26285490_26285513delCA2658218253HADHBc.1308_1331del (p.Leu437_Arg444del)
c.939_962del (p.Leu314_Arg321del)
n.2255_2278del
c.1263_1286del (p.Leu422_Arg429del)
c.1242_1265del (p.Leu415_Arg422del)
c.1278_1301del (p.Leu427_Arg434del)
 gnomAD v4
2g.26285513G>ACA341341HADHBc.1331G>A (p.Arg444Lys)
c.962G>A (p.Arg321Lys)
n.2278G>A
c.1286G>A (p.Arg429Lys)
c.1265G>A (p.Arg422Lys)
c.1301G>A (p.Arg434Lys)
 ClinVar dbSNP
2g.26285513G>CCA346096873HADHBc.1331G>C (p.Arg444Thr)
c.962G>C (p.Arg321Thr)
n.2278G>C
c.1286G>C (p.Arg429Thr)
c.1265G>C (p.Arg422Thr)
c.1301G>C (p.Arg434Thr)
2g.26285513G=CA1239745852HADHBc.1331G= (p.Arg444=)
c.962G= (p.Arg321=)
n.2278G=
c.1286G= (p.Arg429=)
c.1265G= (p.Arg422=)
c.1301G= (p.Arg434=)
2g.26285513G>TCA346096874HADHBc.1331G>T (p.Arg444Ile)
c.962G>T (p.Arg321Ile)
n.2278G>T
c.1286G>T (p.Arg429Ile)
c.1265G>T (p.Arg422Ile)
c.1301G>T (p.Arg434Ile)
2g.26285514A=CA1239745853HADHBc.1332A= (p.Arg444=)
c.963A= (p.Arg321=)
n.2279A=
c.1287A= (p.Arg429=)
c.1266A= (p.Arg422=)
c.1302A= (p.Arg434=)
2g.26285514A>CCA346096875HADHBc.1332A>C (p.Arg444Ser)
c.963A>C (p.Arg321Ser)
n.2279A>C
c.1287A>C (p.Arg429Ser)
c.1266A>C (p.Arg422Ser)
c.1302A>C (p.Arg434Ser)
2g.26285514A>GCA1560516HADHBc.1332A>G (p.Arg444=)
c.963A>G (p.Arg321=)
n.2279A>G
c.1287A>G (p.Arg429=)
c.1266A>G (p.Arg422=)
c.1302A>G (p.Arg434=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285514A>TCA346096876HADHBc.1332A>T (p.Arg444Ser)
c.963A>T (p.Arg321Ser)
n.2279A>T
c.1287A>T (p.Arg429Ser)
c.1266A>T (p.Arg422Ser)
c.1302A>T (p.Arg434Ser)
2g.26285515T>ACA346096877HADHBc.1333T>A (p.Leu445Ile)
c.964T>A (p.Leu322Ile)
n.2280T>A
c.1288T>A (p.Leu430Ile)
c.1267T>A (p.Leu423Ile)
c.1303T>A (p.Leu435Ile)
2g.26285515T>CCA425202161HADHBc.1333T>C (p.Leu445=)
c.964T>C (p.Leu322=)
n.2280T>C
c.1288T>C (p.Leu430=)
c.1267T>C (p.Leu423=)
c.1303T>C (p.Leu435=)
2g.26285515T>GCA346096878HADHBc.1333T>G (p.Leu445Val)
c.964T>G (p.Leu322Val)
n.2280T>G
c.1288T>G (p.Leu430Val)
c.1267T>G (p.Leu423Val)
c.1303T>G (p.Leu435Val)
2g.26285516T>ACA346096881HADHBc.1334T>A (p.Leu445Ter)
c.965T>A (p.Leu322Ter)
n.2281T>A
c.1289T>A (p.Leu430Ter)
c.1268T>A (p.Leu423Ter)
c.1304T>A (p.Leu435Ter)
2g.26285516T>CCA346096880HADHBc.1334T>C (p.Leu445Ser)
c.965T>C (p.Leu322Ser)
n.2281T>C
c.1289T>C (p.Leu430Ser)
c.1268T>C (p.Leu423Ser)
c.1304T>C (p.Leu435Ser)
2g.26285516T>GCA346096879HADHBc.1334T>G (p.Leu445Ter)
c.965T>G (p.Leu322Ter)
n.2281T>G
c.1289T>G (p.Leu430Ter)
c.1268T>G (p.Leu423Ter)
c.1304T>G (p.Leu435Ter)
 ClinVar
2g.26285517A>CCA346096882HADHBc.1335A>C (p.Leu445Phe)
c.966A>C (p.Leu322Phe)
n.2282A>C
c.1290A>C (p.Leu430Phe)
c.1269A>C (p.Leu423Phe)
c.1305A>C (p.Leu435Phe)
2g.26285517A>GCA425202166HADHBc.1335A>G (p.Leu445=)
c.966A>G (p.Leu322=)
n.2282A>G
c.1290A>G (p.Leu430=)
c.1269A>G (p.Leu423=)
c.1305A>G (p.Leu435=)
2g.26285517A>TCA346096883HADHBc.1335A>T (p.Leu445Phe)
c.966A>T (p.Leu322Phe)
n.2282A>T
c.1290A>T (p.Leu430Phe)
c.1269A>T (p.Leu423Phe)
c.1305A>T (p.Leu435Phe)
2g.26285518C>ACA425202167HADHBc.1336C>A (p.Arg446=)
c.967C>A (p.Arg323=)
n.2283C>A
c.1291C>A (p.Arg431=)
c.1270C>A (p.Arg424=)
c.1306C>A (p.Arg436=)
2g.26285518C=CA1239745854HADHBc.1336C= (p.Arg446=)
c.967C= (p.Arg323=)
n.2283C=
c.1291C= (p.Arg431=)
c.1270C= (p.Arg424=)
c.1306C= (p.Arg436=)
2g.26285518C>GCA346096884HADHBc.1336C>G (p.Arg446Gly)
c.967C>G (p.Arg323Gly)
n.2283C>G
c.1291C>G (p.Arg431Gly)
c.1270C>G (p.Arg424Gly)
c.1306C>G (p.Arg436Gly)
 gnomAD v4
2g.26285518C>TCA1560517HADHBc.1336C>T (p.Arg446Trp)
c.967C>T (p.Arg323Trp)
n.2283C>T
c.1291C>T (p.Arg431Trp)
c.1270C>T (p.Arg424Trp)
c.1306C>T (p.Arg436Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285519G>ACA1560518HADHBc.1337G>A (p.Arg446Gln)
c.968G>A (p.Arg323Gln)
n.2284G>A
c.1292G>A (p.Arg431Gln)
c.1271G>A (p.Arg424Gln)
c.1307G>A (p.Arg436Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.26285519G>CCA346096885HADHBc.1337G>C (p.Arg446Pro)
c.968G>C (p.Arg323Pro)
n.2284G>C
c.1292G>C (p.Arg431Pro)
c.1271G>C (p.Arg424Pro)
c.1307G>C (p.Arg436Pro)
2g.26285519G=CA1239745855HADHBc.1337G= (p.Arg446=)
c.968G= (p.Arg323=)
n.2284G=
c.1292G= (p.Arg431=)
c.1271G= (p.Arg424=)
c.1307G= (p.Arg436=)
2g.26285519G>TCA346096886HADHBc.1337G>T (p.Arg446Leu)
c.968G>T (p.Arg323Leu)
n.2284G>T
c.1292G>T (p.Arg431Leu)
c.1271G>T (p.Arg424Leu)
c.1307G>T (p.Arg436Leu)
2g.26285520G>ACA425202171HADHBc.1338G>A (p.Arg446=)
c.969G>A (p.Arg323=)
n.2285G>A
c.1293G>A (p.Arg431=)
c.1272G>A (p.Arg424=)
c.1308G>A (p.Arg436=)
2g.26285520G>CCA425202172HADHBc.1338G>C (p.Arg446=)
c.969G>C (p.Arg323=)
n.2285G>C
c.1293G>C (p.Arg431=)
c.1272G>C (p.Arg424=)
c.1308G>C (p.Arg436=)
2g.26285520G>TCA425202173HADHBc.1338G>T (p.Arg446=)
c.969G>T (p.Arg323=)
n.2285G>T
c.1293G>T (p.Arg431=)
c.1272G>T (p.Arg424=)
c.1308G>T (p.Arg436=)
2g.26285521A=CA1239745857HADHBc.1339A= (p.Lys447=)
c.970A= (p.Lys324=)
n.2286A=
c.1294A= (p.Lys432=)
c.1273A= (p.Lys425=)
c.1309A= (p.Lys437=)
2g.26285521A>CCA346096887HADHBc.1339A>C (p.Lys447Gln)
c.970A>C (p.Lys324Gln)
n.2286A>C
c.1294A>C (p.Lys432Gln)
c.1273A>C (p.Lys425Gln)
c.1309A>C (p.Lys437Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26285521A>GCA346096888HADHBc.1339A>G (p.Lys447Glu)
c.970A>G (p.Lys324Glu)
n.2286A>G
c.1294A>G (p.Lys432Glu)
c.1273A>G (p.Lys425Glu)
c.1309A>G (p.Lys437Glu)
2g.26285521A>TCA346096889HADHBc.1339A>T (p.Lys447Ter)
c.970A>T (p.Lys324Ter)
n.2286A>T
c.1294A>T (p.Lys432Ter)
c.1273A>T (p.Lys425Ter)
c.1309A>T (p.Lys437Ter)
2g.26285521_26285524delinsAAAGCA1239745856HADHBc.1339_1342delinsAAAG (p.Lys447=)
c.970_973delinsAAAG (p.Lys324=)
n.2286_2289delinsAAAG
c.1294_1297delinsAAAG (p.Lys432=)
c.1273_1276delinsAAAG (p.Lys425=)
c.1309_1312delinsAAAG (p.Lys437=)
2g.26285522A>CCA346096890HADHBc.1340A>C (p.Lys447Thr)
c.971A>C (p.Lys324Thr)
n.2287A>C
c.1295A>C (p.Lys432Thr)
c.1274A>C (p.Lys425Thr)
c.1310A>C (p.Lys437Thr)
2g.26285522A>GCA346096891HADHBc.1340A>G (p.Lys447Arg)
c.971A>G (p.Lys324Arg)
n.2287A>G
c.1295A>G (p.Lys432Arg)
c.1274A>G (p.Lys425Arg)
c.1310A>G (p.Lys437Arg)
 gnomAD v4
2g.26285522A>TCA346096892HADHBc.1340A>T (p.Lys447Ile)
c.971A>T (p.Lys324Ile)
n.2287A>T
c.1295A>T (p.Lys432Ile)
c.1274A>T (p.Lys425Ile)
c.1310A>T (p.Lys437Ile)
2g.26285525_26285527delCA531395192HADHBc.1343_1345del (p.Glu448del)
c.974_976del (p.Glu325del)
n.2290_2292del
c.1298_1300del (p.Glu433del)
c.1277_1279del (p.Glu426del)
c.1313_1315del (p.Glu438del)
 dbSNP gnomAD v2 gnomAD v4
2g.26285523A=CA1239745858HADHBc.1341A= (p.Lys447=)
c.972A= (p.Lys324=)
n.2288A=
c.1296A= (p.Lys432=)
c.1275A= (p.Lys425=)
c.1311A= (p.Lys437=)
2g.26285523A>CCA346096893HADHBc.1341A>C (p.Lys447Asn)
c.972A>C (p.Lys324Asn)
n.2288A>C
c.1296A>C (p.Lys432Asn)
c.1275A>C (p.Lys425Asn)
c.1311A>C (p.Lys437Asn)
2g.26285523A>GCA425202176HADHBc.1341A>G (p.Lys447=)
c.972A>G (p.Lys324=)
n.2288A>G
c.1296A>G (p.Lys432=)
c.1275A>G (p.Lys425=)
c.1311A>G (p.Lys437=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26285523A>TCA346096894HADHBc.1341A>T (p.Lys447Asn)
c.972A>T (p.Lys324Asn)
n.2288A>T
c.1296A>T (p.Lys432Asn)
c.1275A>T (p.Lys425Asn)
c.1311A>T (p.Lys437Asn)
2g.26285524G>ACA346096895HADHBc.1342G>A (p.Glu448Lys)
c.973G>A (p.Glu325Lys)
n.2289G>A
c.1297G>A (p.Glu433Lys)
c.1276G>A (p.Glu426Lys)
c.1312G>A (p.Glu438Lys)
2g.26285524G>CCA346096897HADHBc.1342G>C (p.Glu448Gln)
c.973G>C (p.Glu325Gln)
n.2289G>C
c.1297G>C (p.Glu433Gln)
c.1276G>C (p.Glu426Gln)
c.1312G>C (p.Glu438Gln)
2g.26285524G>TCA346096896HADHBc.1342G>T (p.Glu448Ter)
c.973G>T (p.Glu325Ter)
n.2289G>T
c.1297G>T (p.Glu433Ter)
c.1276G>T (p.Glu426Ter)
c.1312G>T (p.Glu438Ter)
2g.26285525A=CA1239745859HADHBc.1343A= (p.Glu448=)
c.974A= (p.Glu325=)
n.2290A=
c.1298A= (p.Glu433=)
c.1277A= (p.Glu426=)
c.1313A= (p.Glu438=)
2g.26285525A>CCA346096898HADHBc.1343A>C (p.Glu448Ala)
c.974A>C (p.Glu325Ala)
n.2290A>C
c.1298A>C (p.Glu433Ala)
c.1277A>C (p.Glu426Ala)
c.1313A>C (p.Glu438Ala)
2g.26285525A>GCA44342947HADHBc.1343A>G (p.Glu448Gly)
c.974A>G (p.Glu325Gly)
n.2290A>G
c.1298A>G (p.Glu433Gly)
c.1277A>G (p.Glu426Gly)
c.1313A>G (p.Glu438Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26285525A>TCA346096899HADHBc.1343A>T (p.Glu448Val)
c.974A>T (p.Glu325Val)
n.2290A>T
c.1298A>T (p.Glu433Val)
c.1277A>T (p.Glu426Val)
c.1313A>T (p.Glu438Val)
2g.26285526A>CCA346096900HADHBc.1344A>C (p.Glu448Asp)
c.975A>C (p.Glu325Asp)
n.2291A>C
c.1299A>C (p.Glu433Asp)
c.1278A>C (p.Glu426Asp)
c.1314A>C (p.Glu438Asp)
2g.26285526A>GCA425202183HADHBc.1344A>G (p.Glu448=)
c.975A>G (p.Glu325=)
n.2291A>G
c.1299A>G (p.Glu433=)
c.1278A>G (p.Glu426=)
c.1314A>G (p.Glu438=)
 gnomAD v4
2g.26285526A>TCA346096901HADHBc.1344A>T (p.Glu448Asp)
c.975A>T (p.Glu325Asp)
n.2291A>T
c.1299A>T (p.Glu433Asp)
c.1278A>T (p.Glu426Asp)
c.1314A>T (p.Glu438Asp)
2g.26285527G>ACA346096902HADHBc.1345G>A (p.Gly449Arg)
c.976G>A (p.Gly326Arg)
n.2292G>A
c.1300G>A (p.Gly434Arg)
c.1279G>A (p.Gly427Arg)
c.1315G>A (p.Gly439Arg)
2g.26285527G>CCA346096903HADHBc.1345G>C (p.Gly449Arg)
c.976G>C (p.Gly326Arg)
n.2292G>C
c.1300G>C (p.Gly434Arg)
c.1279G>C (p.Gly427Arg)
c.1315G>C (p.Gly439Arg)
2g.26285527G>TCA346096904HADHBc.1345G>T (p.Gly449Ter)
c.976G>T (p.Gly326Ter)
n.2292G>T
c.1300G>T (p.Gly434Ter)
c.1279G>T (p.Gly427Ter)
c.1315G>T (p.Gly439Ter)
2g.26285528G>ACA346096905HADHBc.1346G>A (p.Gly449Glu)
c.977G>A (p.Gly326Glu)
n.2293G>A
c.1301G>A (p.Gly434Glu)
c.1280G>A (p.Gly427Glu)
c.1316G>A (p.Gly439Glu)
2g.26285528G>CCA346096906HADHBc.1346G>C (p.Gly449Ala)
c.977G>C (p.Gly326Ala)
n.2293G>C
c.1301G>C (p.Gly434Ala)
c.1280G>C (p.Gly427Ala)
c.1316G>C (p.Gly439Ala)
2g.26285528G>TCA346096907HADHBc.1346G>T (p.Gly449Val)
c.977G>T (p.Gly326Val)
n.2293G>T
c.1301G>T (p.Gly434Val)
c.1280G>T (p.Gly427Val)
c.1316G>T (p.Gly439Val)
2g.26285529A>CCA425202188HADHBc.1347A>C (p.Gly449=)
c.978A>C (p.Gly326=)
n.2294A>C
c.1302A>C (p.Gly434=)
c.1281A>C (p.Gly427=)
c.1317A>C (p.Gly439=)
2g.26285529A>GCA425202190HADHBc.1347A>G (p.Gly449=)
c.978A>G (p.Gly326=)
n.2294A>G
c.1302A>G (p.Gly434=)
c.1281A>G (p.Gly427=)
c.1317A>G (p.Gly439=)
2g.26285529A>TCA425202192HADHBc.1347A>T (p.Gly449=)
c.978A>T (p.Gly326=)
n.2294A>T
c.1302A>T (p.Gly434=)
c.1281A>T (p.Gly427=)
c.1317A>T (p.Gly439=)
2g.26285530G>ACA346096910HADHBc.1348G>A (p.Gly450Ser)
c.979G>A (p.Gly327Ser)
n.2295G>A
c.1303G>A (p.Gly435Ser)
c.1282G>A (p.Gly428Ser)
c.1318G>A (p.Gly440Ser)
 gnomAD v4
2g.26285530G>CCA346096908HADHBc.1348G>C (p.Gly450Arg)
c.979G>C (p.Gly327Arg)
n.2295G>C
c.1303G>C (p.Gly435Arg)
c.1282G>C (p.Gly428Arg)
c.1318G>C (p.Gly440Arg)
2g.26285530G>TCA346096909HADHBc.1348G>T (p.Gly450Cys)
c.979G>T (p.Gly327Cys)
n.2295G>T
c.1303G>T (p.Gly435Cys)
c.1282G>T (p.Gly428Cys)
c.1318G>T (p.Gly440Cys)
2g.26285531G>ACA44342952HADHBc.1349G>A (p.Gly450Asp)
c.980G>A (p.Gly327Asp)
n.2296G>A
c.1304G>A (p.Gly435Asp)
c.1283G>A (p.Gly428Asp)
c.1319G>A (p.Gly440Asp)
 dbSNP gnomAD v4
2g.26285531G>CCA346096911HADHBc.1349G>C (p.Gly450Ala)
c.980G>C (p.Gly327Ala)
n.2296G>C
c.1304G>C (p.Gly435Ala)
c.1283G>C (p.Gly428Ala)
c.1319G>C (p.Gly440Ala)
 gnomAD v4
2g.26285531G=CA1239745860HADHBc.1349G= (p.Gly450=)
c.980G= (p.Gly327=)
n.2296G=
c.1304G= (p.Gly435=)
c.1283G= (p.Gly428=)
c.1319G= (p.Gly440=)
2g.26285531G>TCA346096912HADHBc.1349G>T (p.Gly450Val)
c.980G>T (p.Gly327Val)
n.2296G>T
c.1304G>T (p.Gly435Val)
c.1283G>T (p.Gly428Val)
c.1319G>T (p.Gly440Val)
2g.26285532C>ACA425202198HADHBc.1350C>A (p.Gly450=)
c.981C>A (p.Gly327=)
n.2297C>A
c.1305C>A (p.Gly435=)
c.1284C>A (p.Gly428=)
c.1320C>A (p.Gly440=)
 ClinVar dbSNP gnomAD v4
2g.26285532C=CA1239745861HADHBc.1350C= (p.Gly450=)
c.981C= (p.Gly327=)
n.2297C=
c.1305C= (p.Gly435=)
c.1284C= (p.Gly428=)
c.1320C= (p.Gly440=)
2g.26285532C>GCA425202199HADHBc.1350C>G (p.Gly450=)
c.981C>G (p.Gly327=)
n.2297C>G
c.1305C>G (p.Gly435=)
c.1284C>G (p.Gly428=)
c.1320C>G (p.Gly440=)
2g.26285532C>TCA425202200HADHBc.1350C>T (p.Gly450=)
c.981C>T (p.Gly327=)
n.2297C>T
c.1305C>T (p.Gly435=)
c.1284C>T (p.Gly428=)
c.1320C>T (p.Gly440=)
2g.26285533C>ACA346096913HADHBc.1351C>A (p.Gln451Lys)
c.982C>A (p.Gln328Lys)
n.2298C>A
c.1306C>A (p.Gln436Lys)
c.1285C>A (p.Gln429Lys)
c.1321C>A (p.Gln441Lys)
2g.26285533C>GCA346096914HADHBc.1351C>G (p.Gln451Glu)
c.982C>G (p.Gln328Glu)
n.2298C>G
c.1306C>G (p.Gln436Glu)
c.1285C>G (p.Gln429Glu)
c.1321C>G (p.Gln441Glu)
2g.26285533C>TCA346096915HADHBc.1351C>T (p.Gln451Ter)
c.982C>T (p.Gln328Ter)
n.2298C>T
c.1306C>T (p.Gln436Ter)
c.1285C>T (p.Gln429Ter)
c.1321C>T (p.Gln441Ter)
2g.26285534A=CA1239745862HADHBc.1352A= (p.Gln451=)
c.983A= (p.Gln328=)
n.2299A=
c.1307A= (p.Gln436=)
c.1286A= (p.Gln429=)
c.1322A= (p.Gln441=)
2g.26285534A>CCA346096916HADHBc.1352A>C (p.Gln451Pro)
c.983A>C (p.Gln328Pro)
n.2299A>C
c.1307A>C (p.Gln436Pro)
c.1286A>C (p.Gln429Pro)
c.1322A>C (p.Gln441Pro)
2g.26285534A>GCA346096917HADHBc.1352A>G (p.Gln451Arg)
c.983A>G (p.Gln328Arg)
n.2299A>G
c.1307A>G (p.Gln436Arg)
c.1286A>G (p.Gln429Arg)
c.1322A>G (p.Gln441Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26285534A>TCA346096918HADHBc.1352A>T (p.Gln451Leu)
c.983A>T (p.Gln328Leu)
n.2299A>T
c.1307A>T (p.Gln436Leu)
c.1286A>T (p.Gln429Leu)
c.1322A>T (p.Gln441Leu)
 dbSNP gnomAD v4
2g.26285535G>ACA425202203HADHBc.1353G>A (p.Gln451=)
c.984G>A (p.Gln328=)
n.2300G>A
c.1308G>A (p.Gln436=)
c.1287G>A (p.Gln429=)
c.1323G>A (p.Gln441=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26285535G>CCA346096919HADHBc.1353G>C (p.Gln451His)
c.984G>C (p.Gln328His)
n.2300G>C
c.1308G>C (p.Gln436His)
c.1287G>C (p.Gln429His)
c.1323G>C (p.Gln441His)
2g.26285535G=CA1239745863HADHBc.1353G= (p.Gln451=)
c.984G= (p.Gln328=)
n.2300G=
c.1308G= (p.Gln436=)
c.1287G= (p.Gln429=)
c.1323G= (p.Gln441=)
2g.26285535G>TCA346096920HADHBc.1353G>T (p.Gln451His)
c.984G>T (p.Gln328His)
n.2300G>T
c.1308G>T (p.Gln436His)
c.1287G>T (p.Gln429His)
c.1323G>T (p.Gln441His)
2g.26285536T>ACA346096922HADHBc.1354T>A (p.Tyr452Asn)
c.985T>A (p.Tyr329Asn)
n.2301T>A
c.1309T>A (p.Tyr437Asn)
c.1288T>A (p.Tyr430Asn)
c.1324T>A (p.Tyr442Asn)
2g.26285536T>CCA346096923HADHBc.1354T>C (p.Tyr452His)
c.985T>C (p.Tyr329His)
n.2301T>C
c.1309T>C (p.Tyr437His)
c.1288T>C (p.Tyr430His)
c.1324T>C (p.Tyr442His)
2g.26285536T>GCA346096921HADHBc.1354T>G (p.Tyr452Asp)
c.985T>G (p.Tyr329Asp)
n.2301T>G
c.1309T>G (p.Tyr437Asp)
c.1288T>G (p.Tyr430Asp)
c.1324T>G (p.Tyr442Asp)
2g.26285537A>CCA346096924HADHBc.1355A>C (p.Tyr452Ser)
c.986A>C (p.Tyr329Ser)
n.2302A>C
c.1310A>C (p.Tyr437Ser)
c.1289A>C (p.Tyr430Ser)
c.1325A>C (p.Tyr442Ser)
2g.26285537A>GCA346096925HADHBc.1355A>G (p.Tyr452Cys)
c.986A>G (p.Tyr329Cys)
n.2302A>G
c.1310A>G (p.Tyr437Cys)
c.1289A>G (p.Tyr430Cys)
c.1325A>G (p.Tyr442Cys)
 gnomAD v4
2g.26285537A>TCA346096926HADHBc.1355A>T (p.Tyr452Phe)
c.986A>T (p.Tyr329Phe)
n.2302A>T
c.1310A>T (p.Tyr437Phe)
c.1289A>T (p.Tyr430Phe)
c.1325A>T (p.Tyr442Phe)
2g.26285538T>ACA346096927HADHBc.1356T>A (p.Tyr452Ter)
c.987T>A (p.Tyr329Ter)
n.2303T>A
c.1311T>A (p.Tyr437Ter)
c.1290T>A (p.Tyr430Ter)
c.1326T>A (p.Tyr442Ter)
2g.26285538T>CCA425202209HADHBc.1356T>C (p.Tyr452=)
c.987T>C (p.Tyr329=)
n.2303T>C
c.1311T>C (p.Tyr437=)
c.1290T>C (p.Tyr430=)
c.1326T>C (p.Tyr442=)
2g.26285538T>GCA346096928HADHBc.1356T>G (p.Tyr452Ter)
c.987T>G (p.Tyr329Ter)
n.2303T>G
c.1311T>G (p.Tyr437Ter)
c.1290T>G (p.Tyr430Ter)
c.1326T>G (p.Tyr442Ter)
2g.26285539G>ACA346096929HADHBc.1357G>A (p.Gly453Ser)
c.988G>A (p.Gly330Ser)
n.2304G>A
c.1312G>A (p.Gly438Ser)
c.1291G>A (p.Gly431Ser)
c.1327G>A (p.Gly443Ser)
 ClinVar gnomAD v4
2g.26285539G>CCA346096930HADHBc.1357G>C (p.Gly453Arg)
c.988G>C (p.Gly330Arg)
n.2304G>C
c.1312G>C (p.Gly438Arg)
c.1291G>C (p.Gly431Arg)
c.1327G>C (p.Gly443Arg)
2g.26285539G=CA1239745864HADHBc.1357G= (p.Gly453=)
c.988G= (p.Gly330=)
n.2304G=
c.1312G= (p.Gly438=)
c.1291G= (p.Gly431=)
c.1327G= (p.Gly443=)
2g.26285539G>TCA44342961HADHBc.1357G>T (p.Gly453Cys)
c.988G>T (p.Gly330Cys)
n.2304G>T
c.1312G>T (p.Gly438Cys)
c.1291G>T (p.Gly431Cys)
c.1327G>T (p.Gly443Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.26285540G>ACA346096931HADHBc.1358G>A (p.Gly453Asp)
c.989G>A (p.Gly330Asp)
n.2305G>A
c.1313G>A (p.Gly438Asp)
c.1292G>A (p.Gly431Asp)
c.1328G>A (p.Gly443Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.26285540G>CCA346096932HADHBc.1358G>C (p.Gly453Ala)
c.989G>C (p.Gly330Ala)
n.2305G>C
c.1313G>C (p.Gly438Ala)
c.1292G>C (p.Gly431Ala)
c.1328G>C (p.Gly443Ala)
2g.26285540G=CA1239745865HADHBc.1358G= (p.Gly453=)
c.989G= (p.Gly330=)
n.2305G=
c.1313G= (p.Gly438=)
c.1292G= (p.Gly431=)
c.1328G= (p.Gly443=)
2g.26285540G>TCA346096933HADHBc.1358G>T (p.Gly453Val)
c.989G>T (p.Gly330Val)
n.2305G>T
c.1313G>T (p.Gly438Val)
c.1292G>T (p.Gly431Val)
c.1328G>T (p.Gly443Val)
2g.26285541C>ACA425202214HADHBc.1359C>A (p.Gly453=)
c.990C>A (p.Gly330=)
n.2306C>A
c.1314C>A (p.Gly438=)
c.1293C>A (p.Gly431=)
c.1329C>A (p.Gly443=)
 gnomAD v4
2g.26285541C=CA1239745866HADHBc.1359C= (p.Gly453=)
c.990C= (p.Gly330=)
n.2306C=
c.1314C= (p.Gly438=)
c.1293C= (p.Gly431=)
c.1329C= (p.Gly443=)
2g.26285541C>GCA425202215HADHBc.1359C>G (p.Gly453=)
c.990C>G (p.Gly330=)
n.2306C>G
c.1314C>G (p.Gly438=)
c.1293C>G (p.Gly431=)
c.1329C>G (p.Gly443=)
2g.26285541C>TCA425202216HADHBc.1359C>T (p.Gly453=)
c.990C>T (p.Gly330=)
n.2306C>T
c.1314C>T (p.Gly438=)
c.1293C>T (p.Gly431=)
c.1329C>T (p.Gly443=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26285542T>ACA346096934HADHBc.1360T>A (p.Leu454Ile)
c.991T>A (p.Leu331Ile)
n.2307T>A
c.1315T>A (p.Leu439Ile)
c.1294T>A (p.Leu432Ile)
c.1330T>A (p.Leu444Ile)
2g.26285542T>CCA425202219HADHBc.1360T>C (p.Leu454=)
c.991T>C (p.Leu331=)
n.2307T>C
c.1315T>C (p.Leu439=)
c.1294T>C (p.Leu432=)
c.1330T>C (p.Leu444=)
2g.26285542T>GCA346096935HADHBc.1360T>G (p.Leu454Val)
c.991T>G (p.Leu331Val)
n.2307T>G
c.1315T>G (p.Leu439Val)
c.1294T>G (p.Leu432Val)
c.1330T>G (p.Leu444Val)
2g.26285543T>ACA346096938HADHBc.1361T>A (p.Leu454Ter)
c.992T>A (p.Leu331Ter)
n.2308T>A
c.1316T>A (p.Leu439Ter)
c.1295T>A (p.Leu432Ter)
c.1331T>A (p.Leu444Ter)
2g.26285543T>CCA346096937HADHBc.1361T>C (p.Leu454Ser)
c.992T>C (p.Leu331Ser)
n.2308T>C
c.1316T>C (p.Leu439Ser)
c.1295T>C (p.Leu432Ser)
c.1331T>C (p.Leu444Ser)
2g.26285543T>GCA346096936HADHBc.1361T>G (p.Leu454Ter)
c.992T>G (p.Leu331Ter)
n.2308T>G
c.1316T>G (p.Leu439Ter)
c.1295T>G (p.Leu432Ter)
c.1331T>G (p.Leu444Ter)
2g.26285544A=CA1239745867HADHBc.1362A= (p.Leu454=)
c.993A= (p.Leu331=)
n.2309A=
c.1317A= (p.Leu439=)
c.1296A= (p.Leu432=)
c.1332A= (p.Leu444=)
2g.26285544A>CCA346096939HADHBc.1362A>C (p.Leu454Phe)
c.993A>C (p.Leu331Phe)
n.2309A>C
c.1317A>C (p.Leu439Phe)
c.1296A>C (p.Leu432Phe)
c.1332A>C (p.Leu444Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.26285544A>GCA425202223HADHBc.1362A>G (p.Leu454=)
c.993A>G (p.Leu331=)
n.2309A>G
c.1317A>G (p.Leu439=)
c.1296A>G (p.Leu432=)
c.1332A>G (p.Leu444=)
2g.26285544A>TCA346096940HADHBc.1362A>T (p.Leu454Phe)
c.993A>T (p.Leu331Phe)
n.2309A>T
c.1317A>T (p.Leu439Phe)
c.1296A>T (p.Leu432Phe)
c.1332A>T (p.Leu444Phe)
2g.26285545G>ACA44342982HADHBc.1363G>A (p.Val455Met)
c.994G>A (p.Val332Met)
n.2310G>A
c.1318G>A (p.Val440Met)
c.1297G>A (p.Val433Met)
c.1333G>A (p.Val445Met)
 dbSNP
2g.26285545G>CCA346096941HADHBc.1363G>C (p.Val455Leu)
c.994G>C (p.Val332Leu)
n.2310G>C
c.1318G>C (p.Val440Leu)
c.1297G>C (p.Val433Leu)
c.1333G>C (p.Val445Leu)
 gnomAD v4
2g.26285545G=CA1239745868HADHBc.1363G= (p.Val455=)
c.994G= (p.Val332=)
n.2310G=
c.1318G= (p.Val440=)
c.1297G= (p.Val433=)
c.1333G= (p.Val445=)
2g.26285545G>TCA346096942HADHBc.1363G>T (p.Val455Leu)
c.994G>T (p.Val332Leu)
n.2310G>T
c.1318G>T (p.Val440Leu)
c.1297G>T (p.Val433Leu)
c.1333G>T (p.Val445Leu)
2g.26285546T>ACA1560520HADHBc.1364T>A (p.Val455Glu)
c.995T>A (p.Val332Glu)
n.2311T>A
c.1319T>A (p.Val440Glu)
c.1298T>A (p.Val433Glu)
c.1334T>A (p.Val445Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285546T>CCA1560519HADHBc.1364T>C (p.Val455Ala)
c.995T>C (p.Val332Ala)
n.2311T>C
c.1319T>C (p.Val440Ala)
c.1298T>C (p.Val433Ala)
c.1334T>C (p.Val445Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285546T>GCA341344HADHBc.1364T>G (p.Val455Gly)
c.995T>G (p.Val332Gly)
n.2311T>G
c.1319T>G (p.Val440Gly)
c.1298T>G (p.Val433Gly)
c.1334T>G (p.Val445Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285546T=CA1239745869HADHBc.1364T= (p.Val455=)
c.995T= (p.Val332=)
n.2311T=
c.1319T= (p.Val440=)
c.1298T= (p.Val433=)
c.1334T= (p.Val445=)
2g.26285547G>ACA425202227HADHBc.1365G>A (p.Val455=)
c.996G>A (p.Val332=)
n.2312G>A
c.1320G>A (p.Val440=)
c.1299G>A (p.Val433=)
c.1335G>A (p.Val445=)
2g.26285547G>CCA425202229HADHBc.1365G>C (p.Val455=)
c.996G>C (p.Val332=)
n.2312G>C
c.1320G>C (p.Val440=)
c.1299G>C (p.Val433=)
c.1335G>C (p.Val445=)
2g.26285547G>TCA425202231HADHBc.1365G>T (p.Val455=)
c.996G>T (p.Val332=)
n.2312G>T
c.1320G>T (p.Val440=)
c.1299G>T (p.Val433=)
c.1335G>T (p.Val445=)
2g.26285548G>ACA346096943HADHBc.1366G>A (p.Ala456Thr)
c.997G>A (p.Ala333Thr)
n.2313G>A
c.1321G>A (p.Ala441Thr)
c.1300G>A (p.Ala434Thr)
c.1336G>A (p.Ala446Thr)
2g.26285548G>CCA346096944HADHBc.1366G>C (p.Ala456Pro)
c.997G>C (p.Ala333Pro)
n.2313G>C
c.1321G>C (p.Ala441Pro)
c.1300G>C (p.Ala434Pro)
c.1336G>C (p.Ala446Pro)
2g.26285548G>TCA346096945HADHBc.1366G>T (p.Ala456Ser)
c.997G>T (p.Ala333Ser)
n.2313G>T
c.1321G>T (p.Ala441Ser)
c.1300G>T (p.Ala434Ser)
c.1336G>T (p.Ala446Ser)
2g.26285549C>ACA346096946HADHBc.1367C>A (p.Ala456Asp)
c.998C>A (p.Ala333Asp)
n.2314C>A
c.1322C>A (p.Ala441Asp)
c.1301C>A (p.Ala434Asp)
c.1337C>A (p.Ala446Asp)
2g.26285549C>GCA346096947HADHBc.1367C>G (p.Ala456Gly)
c.998C>G (p.Ala333Gly)
n.2314C>G
c.1322C>G (p.Ala441Gly)
c.1301C>G (p.Ala434Gly)
c.1337C>G (p.Ala446Gly)
2g.26285549C>TCA346096948HADHBc.1367C>T (p.Ala456Val)
c.998C>T (p.Ala333Val)
n.2314C>T
c.1322C>T (p.Ala441Val)
c.1301C>T (p.Ala434Val)
c.1337C>T (p.Ala446Val)
2g.26285550T>ACA425202236HADHBc.1368T>A (p.Ala456=)
c.999T>A (p.Ala333=)
n.2315T>A
c.1323T>A (p.Ala441=)
c.1302T>A (p.Ala434=)
c.1338T>A (p.Ala446=)
2g.26285550T>CCA425202237HADHBc.1368T>C (p.Ala456=)
c.999T>C (p.Ala333=)
n.2315T>C
c.1323T>C (p.Ala441=)
c.1302T>C (p.Ala434=)
c.1338T>C (p.Ala446=)
 ClinVar
2g.26285550T>GCA425202239HADHBc.1368T>G (p.Ala456=)
c.999T>G (p.Ala333=)
n.2315T>G
c.1323T>G (p.Ala441=)
c.1302T>G (p.Ala434=)
c.1338T>G (p.Ala446=)
2g.26285550_26285559delCA2658218254HADHBc.1368_1377del (p.Ala457LeufsTer8)
c.999_1008del (p.Ala334LeufsTer8)
n.2315_2324del
c.1323_1332del (p.Ala442LeufsTer8)
c.1302_1311del (p.Ala435LeufsTer8)
c.1338_1347del (p.Ala447LeufsTer8)
 gnomAD v4
2g.26285551G>ACA44343052HADHBc.1369G>A (p.Ala457Thr)
c.1000G>A (p.Ala334Thr)
n.2316G>A
c.1324G>A (p.Ala442Thr)
c.1303G>A (p.Ala435Thr)
c.1339G>A (p.Ala447Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.26285551G>CCA346096950HADHBc.1369G>C (p.Ala457Pro)
c.1000G>C (p.Ala334Pro)
n.2316G>C
c.1324G>C (p.Ala442Pro)
c.1303G>C (p.Ala435Pro)
c.1339G>C (p.Ala447Pro)
2g.26285551G=CA1239745870HADHBc.1369G= (p.Ala457=)
c.1000G= (p.Ala334=)
n.2316G=
c.1324G= (p.Ala442=)
c.1303G= (p.Ala435=)
c.1339G= (p.Ala447=)
2g.26285551G>TCA346096949HADHBc.1369G>T (p.Ala457Ser)
c.1000G>T (p.Ala334Ser)
n.2316G>T
c.1324G>T (p.Ala442Ser)
c.1303G>T (p.Ala435Ser)
c.1339G>T (p.Ala447Ser)
2g.26285552C>ACA346096952HADHBc.1370C>A (p.Ala457Glu)
c.1001C>A (p.Ala334Glu)
n.2317C>A
c.1325C>A (p.Ala442Glu)
c.1304C>A (p.Ala435Glu)
c.1340C>A (p.Ala447Glu)
2g.26285552C=CA1239745871HADHBc.1370C= (p.Ala457=)
c.1001C= (p.Ala334=)
n.2317C=
c.1325C= (p.Ala442=)
c.1304C= (p.Ala435=)
c.1340C= (p.Ala447=)
2g.26285552C>GCA346096951HADHBc.1370C>G (p.Ala457Gly)
c.1001C>G (p.Ala334Gly)
n.2317C>G
c.1325C>G (p.Ala442Gly)
c.1304C>G (p.Ala435Gly)
c.1340C>G (p.Ala447Gly)
2g.26285552C>TCA1560521HADHBc.1370C>T (p.Ala457Val)
c.1001C>T (p.Ala334Val)
n.2317C>T
c.1325C>T (p.Ala442Val)
c.1304C>T (p.Ala435Val)
c.1340C>T (p.Ala447Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285553G>ACA1560522HADHBc.1371G>A (p.Ala457=)
c.1002G>A (p.Ala334=)
n.2318G>A
c.1326G>A (p.Ala442=)
c.1305G>A (p.Ala435=)
c.1341G>A (p.Ala447=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285553G>CCA425202241HADHBc.1371G>C (p.Ala457=)
c.1002G>C (p.Ala334=)
n.2318G>C
c.1326G>C (p.Ala442=)
c.1305G>C (p.Ala435=)
c.1341G>C (p.Ala447=)
 gnomAD v4
2g.26285553G=CA1239745872HADHBc.1371G= (p.Ala457=)
c.1002G= (p.Ala334=)
n.2318G=
c.1326G= (p.Ala442=)
c.1305G= (p.Ala435=)
c.1341G= (p.Ala447=)
2g.26285553G>TCA1560523HADHBc.1371G>T (p.Ala457=)
c.1002G>T (p.Ala334=)
n.2318G>T
c.1326G>T (p.Ala442=)
c.1305G>T (p.Ala435=)
c.1341G>T (p.Ala447=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285554T>ACA346096954HADHBc.1372T>A (p.Cys458Ser)
c.1003T>A (p.Cys335Ser)
n.2319T>A
c.1327T>A (p.Cys443Ser)
c.1306T>A (p.Cys436Ser)
c.1342T>A (p.Cys448Ser)
2g.26285554T>CCA346096956HADHBc.1372T>C (p.Cys458Arg)
c.1003T>C (p.Cys335Arg)
n.2319T>C
c.1327T>C (p.Cys443Arg)
c.1306T>C (p.Cys436Arg)
c.1342T>C (p.Cys448Arg)
2g.26285554T>GCA346096958HADHBc.1372T>G (p.Cys458Gly)
c.1003T>G (p.Cys335Gly)
n.2319T>G
c.1327T>G (p.Cys443Gly)
c.1306T>G (p.Cys436Gly)
c.1342T>G (p.Cys448Gly)
2g.26285555G>ACA346096960HADHBc.1373G>A (p.Cys458Tyr)
c.1004G>A (p.Cys335Tyr)
n.2320G>A
c.1328G>A (p.Cys443Tyr)
c.1307G>A (p.Cys436Tyr)
c.1343G>A (p.Cys448Tyr)
2g.26285555G>CCA346096961HADHBc.1373G>C (p.Cys458Ser)
c.1004G>C (p.Cys335Ser)
n.2320G>C
c.1328G>C (p.Cys443Ser)
c.1307G>C (p.Cys436Ser)
c.1343G>C (p.Cys448Ser)
 gnomAD v4
2g.26285555G>TCA346096963HADHBc.1373G>T (p.Cys458Phe)
c.1004G>T (p.Cys335Phe)
n.2320G>T
c.1328G>T (p.Cys443Phe)
c.1307G>T (p.Cys436Phe)
c.1343G>T (p.Cys448Phe)
2g.26285556T>ACA346096965HADHBc.1374T>A (p.Cys458Ter)
c.1005T>A (p.Cys335Ter)
n.2321T>A
c.1329T>A (p.Cys443Ter)
c.1308T>A (p.Cys436Ter)
c.1344T>A (p.Cys448Ter)
2g.26285556T>CCA425202244HADHBc.1374T>C (p.Cys458=)
c.1005T>C (p.Cys335=)
n.2321T>C
c.1329T>C (p.Cys443=)
c.1308T>C (p.Cys436=)
c.1344T>C (p.Cys448=)
2g.26285556T>GCA346096967HADHBc.1374T>G (p.Cys458Trp)
c.1005T>G (p.Cys335Trp)
n.2321T>G
c.1329T>G (p.Cys443Trp)
c.1308T>G (p.Cys436Trp)
c.1344T>G (p.Cys448Trp)
2g.26285557G>ACA346096969HADHBc.1375G>A (p.Ala459Thr)
c.1006G>A (p.Ala336Thr)
n.2322G>A
c.1330G>A (p.Ala444Thr)
c.1309G>A (p.Ala437Thr)
c.1345G>A (p.Ala449Thr)
 ClinVar dbSNP gnomAD v2
2g.26285557G>CCA346096971HADHBc.1375G>C (p.Ala459Pro)
c.1006G>C (p.Ala336Pro)
n.2322G>C
c.1330G>C (p.Ala444Pro)
c.1309G>C (p.Ala437Pro)
c.1345G>C (p.Ala449Pro)
2g.26285557G=CA1239745873HADHBc.1375G= (p.Ala459=)
c.1006G= (p.Ala336=)
n.2322G=
c.1330G= (p.Ala444=)
c.1309G= (p.Ala437=)
c.1345G= (p.Ala449=)
2g.26285557G>TCA346096973HADHBc.1375G>T (p.Ala459Ser)
c.1006G>T (p.Ala336Ser)
n.2322G>T
c.1330G>T (p.Ala444Ser)
c.1309G>T (p.Ala437Ser)
c.1345G>T (p.Ala449Ser)
2g.26285558C>ACA1560524HADHBc.1376C>A (p.Ala459Glu)
c.1007C>A (p.Ala336Glu)
n.2323C>A
c.1331C>A (p.Ala444Glu)
c.1310C>A (p.Ala437Glu)
c.1346C>A (p.Ala449Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285558C=CA1239745874HADHBc.1376C= (p.Ala459=)
c.1007C= (p.Ala336=)
n.2323C=
c.1331C= (p.Ala444=)
c.1310C= (p.Ala437=)
c.1346C= (p.Ala449=)
2g.26285558C>GCA346096977HADHBc.1376C>G (p.Ala459Gly)
c.1007C>G (p.Ala336Gly)
n.2323C>G
c.1331C>G (p.Ala444Gly)
c.1310C>G (p.Ala437Gly)
c.1346C>G (p.Ala449Gly)
2g.26285558C>TCA346096975HADHBc.1376C>T (p.Ala459Val)
c.1007C>T (p.Ala336Val)
n.2323C>T
c.1331C>T (p.Ala444Val)
c.1310C>T (p.Ala437Val)
c.1346C>T (p.Ala449Val)
 gnomAD v4
2g.26285559A>CCA425202251HADHBc.1377A>C (p.Ala459=)
c.1008A>C (p.Ala336=)
n.2324A>C
c.1332A>C (p.Ala444=)
c.1311A>C (p.Ala437=)
c.1347A>C (p.Ala449=)
 ClinVar
2g.26285559A>GCA425202252HADHBc.1377A>G (p.Ala459=)
c.1008A>G (p.Ala336=)
n.2324A>G
c.1332A>G (p.Ala444=)
c.1311A>G (p.Ala437=)
c.1347A>G (p.Ala449=)
2g.26285559A>TCA425202254HADHBc.1377A>T (p.Ala459=)
c.1008A>T (p.Ala336=)
n.2324A>T
c.1332A>T (p.Ala444=)
c.1311A>T (p.Ala437=)
c.1347A>T (p.Ala449=)
2g.26285560G>ACA346096980HADHBc.1378G>A (p.Ala460Thr)
c.1009G>A (p.Ala337Thr)
n.2325G>A
c.1333G>A (p.Ala445Thr)
c.1312G>A (p.Ala438Thr)
c.1348G>A (p.Ala450Thr)
 dbSNP
2g.26285560G>CCA346096981HADHBc.1378G>C (p.Ala460Pro)
c.1009G>C (p.Ala337Pro)
n.2325G>C
c.1333G>C (p.Ala445Pro)
c.1312G>C (p.Ala438Pro)
c.1348G>C (p.Ala450Pro)
2g.26285560G=CA1239745875HADHBc.1378G= (p.Ala460=)
c.1009G= (p.Ala337=)
n.2325G=
c.1333G= (p.Ala445=)
c.1312G= (p.Ala438=)
c.1348G= (p.Ala450=)
2g.26285560G>TCA346096983HADHBc.1378G>T (p.Ala460Ser)
c.1009G>T (p.Ala337Ser)
n.2325G>T
c.1333G>T (p.Ala445Ser)
c.1312G>T (p.Ala438Ser)
c.1348G>T (p.Ala450Ser)
2g.26285561C>ACA346096985HADHBc.1379C>A (p.Ala460Asp)
c.1010C>A (p.Ala337Asp)
n.2326C>A
c.1334C>A (p.Ala445Asp)
c.1313C>A (p.Ala438Asp)
c.1349C>A (p.Ala450Asp)
2g.26285561C>GCA346096987HADHBc.1379C>G (p.Ala460Gly)
c.1010C>G (p.Ala337Gly)
n.2326C>G
c.1334C>G (p.Ala445Gly)
c.1313C>G (p.Ala438Gly)
c.1349C>G (p.Ala450Gly)
2g.26285561C>TCA346096989HADHBc.1379C>T (p.Ala460Val)
c.1010C>T (p.Ala337Val)
n.2326C>T
c.1334C>T (p.Ala445Val)
c.1313C>T (p.Ala438Val)
c.1349C>T (p.Ala450Val)
 COSMIC
2g.26285562T>ACA425202257HADHBc.1380T>A (p.Ala460=)
c.1011T>A (p.Ala337=)
n.2327T>A
c.1335T>A (p.Ala445=)
c.1314T>A (p.Ala438=)
c.1350T>A (p.Ala450=)
2g.26285562T>CCA425202259HADHBc.1380T>C (p.Ala460=)
c.1011T>C (p.Ala337=)
n.2327T>C
c.1335T>C (p.Ala445=)
c.1314T>C (p.Ala438=)
c.1350T>C (p.Ala450=)
2g.26285562T>GCA425202260HADHBc.1380T>G (p.Ala460=)
c.1011T>G (p.Ala337=)
n.2327T>G
c.1335T>G (p.Ala445=)
c.1314T>G (p.Ala438=)
c.1350T>G (p.Ala450=)
2g.26285563G>ACA346096991HADHBc.1381G>A (p.Gly461Arg)
c.1012G>A (p.Gly338Arg)
n.2328G>A
c.1336G>A (p.Gly446Arg)
c.1315G>A (p.Gly439Arg)
c.1351G>A (p.Gly451Arg)
2g.26285563G>CCA346096992HADHBc.1381G>C (p.Gly461Arg)
c.1012G>C (p.Gly338Arg)
n.2328G>C
c.1336G>C (p.Gly446Arg)
c.1315G>C (p.Gly439Arg)
c.1351G>C (p.Gly451Arg)
2g.26285563G>TCA346096993HADHBc.1381G>T (p.Gly461Ter)
c.1012G>T (p.Gly338Ter)
n.2328G>T
c.1336G>T (p.Gly446Ter)
c.1315G>T (p.Gly439Ter)
c.1351G>T (p.Gly451Ter)
2g.26285564G>ACA346096995HADHBc.1382G>A (p.Gly461Glu)
c.1013G>A (p.Gly338Glu)
n.2329G>A
c.1337G>A (p.Gly446Glu)
c.1316G>A (p.Gly439Glu)
c.1352G>A (p.Gly451Glu)
2g.26285564G>CCA346096996HADHBc.1382G>C (p.Gly461Ala)
c.1013G>C (p.Gly338Ala)
n.2329G>C
c.1337G>C (p.Gly446Ala)
c.1316G>C (p.Gly439Ala)
c.1352G>C (p.Gly451Ala)
 gnomAD v4
2g.26285564G>TCA346096998HADHBc.1382G>T (p.Gly461Val)
c.1013G>T (p.Gly338Val)
n.2329G>T
c.1337G>T (p.Gly446Val)
c.1316G>T (p.Gly439Val)
c.1352G>T (p.Gly451Val)
2g.26285565A=CA1239745876HADHBc.1383A= (p.Gly461=)
c.1014A= (p.Gly338=)
n.2330A=
c.1338A= (p.Gly446=)
c.1317A= (p.Gly439=)
c.1353A= (p.Gly451=)
2g.26285565A>CCA425202267HADHBc.1383A>C (p.Gly461=)
c.1014A>C (p.Gly338=)
n.2330A>C
c.1338A>C (p.Gly446=)
c.1317A>C (p.Gly439=)
c.1353A>C (p.Gly451=)
2g.26285565A>GCA425202265HADHBc.1383A>G (p.Gly461=)
c.1014A>G (p.Gly338=)
n.2330A>G
c.1338A>G (p.Gly446=)
c.1317A>G (p.Gly439=)
c.1353A>G (p.Gly451=)
2g.26285565A>TCA425202263HADHBc.1383A>T (p.Gly461=)
c.1014A>T (p.Gly338=)
n.2330A>T
c.1338A>T (p.Gly446=)
c.1317A>T (p.Gly439=)
c.1353A>T (p.Gly451=)
 dbSNP gnomAD v3 gnomAD v4
2g.26285566G>ACA1560525HADHBc.1384G>A (p.Gly462Arg)
c.1015G>A (p.Gly339Arg)
n.2331G>A
c.1339G>A (p.Gly447Arg)
c.1318G>A (p.Gly440Arg)
c.1354G>A (p.Gly452Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285566G>CCA346097004HADHBc.1384G>C (p.Gly462Arg)
c.1015G>C (p.Gly339Arg)
n.2331G>C
c.1339G>C (p.Gly447Arg)
c.1318G>C (p.Gly440Arg)
c.1354G>C (p.Gly452Arg)
2g.26285566G=CA1239745877HADHBc.1384G= (p.Gly462=)
c.1015G= (p.Gly339=)
n.2331G=
c.1339G= (p.Gly447=)
c.1318G= (p.Gly440=)
c.1354G= (p.Gly452=)
2g.26285566G>TCA346097001HADHBc.1384G>T (p.Gly462Trp)
c.1015G>T (p.Gly339Trp)
n.2331G>T
c.1339G>T (p.Gly447Trp)
c.1318G>T (p.Gly440Trp)
c.1354G>T (p.Gly452Trp)
2g.26285567G>ACA346097007HADHBc.1385G>A (p.Gly462Glu)
c.1016G>A (p.Gly339Glu)
n.2332G>A
c.1340G>A (p.Gly447Glu)
c.1319G>A (p.Gly440Glu)
c.1355G>A (p.Gly452Glu)
2g.26285567G>CCA346097009HADHBc.1385G>C (p.Gly462Ala)
c.1016G>C (p.Gly339Ala)
n.2332G>C
c.1340G>C (p.Gly447Ala)
c.1319G>C (p.Gly440Ala)
c.1355G>C (p.Gly452Ala)
2g.26285567G>TCA346097010HADHBc.1385G>T (p.Gly462Val)
c.1016G>T (p.Gly339Val)
n.2332G>T
c.1340G>T (p.Gly447Val)
c.1319G>T (p.Gly440Val)
c.1355G>T (p.Gly452Val)
2g.26285568G>ACA425202269HADHBc.1386G>A (p.Gly462=)
c.1017G>A (p.Gly339=)
n.2333G>A
c.1341G>A (p.Gly447=)
c.1320G>A (p.Gly440=)
c.1356G>A (p.Gly452=)
 ClinVar
2g.26285568G>CCA425202270HADHBc.1386G>C (p.Gly462=)
c.1017G>C (p.Gly339=)
n.2333G>C
c.1341G>C (p.Gly447=)
c.1320G>C (p.Gly440=)
c.1356G>C (p.Gly452=)
2g.26285568G>TCA425202273HADHBc.1386G>T (p.Gly462=)
c.1017G>T (p.Gly339=)
n.2333G>T
c.1341G>T (p.Gly447=)
c.1320G>T (p.Gly440=)
c.1356G>T (p.Gly452=)
2g.26285569C>ACA346097013HADHBc.1387C>A (p.Gln463Lys)
c.1018C>A (p.Gln340Lys)
n.2334C>A
c.1342C>A (p.Gln448Lys)
c.1321C>A (p.Gln441Lys)
c.1357C>A (p.Gln453Lys)
2g.26285569C>GCA346097015HADHBc.1387C>G (p.Gln463Glu)
c.1018C>G (p.Gln340Glu)
n.2334C>G
c.1342C>G (p.Gln448Glu)
c.1321C>G (p.Gln441Glu)
c.1357C>G (p.Gln453Glu)
 ClinVar
2g.26285569C>TCA346097017HADHBc.1387C>T (p.Gln463Ter)
c.1018C>T (p.Gln340Ter)
n.2334C>T
c.1342C>T (p.Gln448Ter)
c.1321C>T (p.Gln441Ter)
c.1357C>T (p.Gln453Ter)
2g.26285570A>CCA346097023HADHBc.1388A>C (p.Gln463Pro)
c.1019A>C (p.Gln340Pro)
n.2335A>C
c.1343A>C (p.Gln448Pro)
c.1322A>C (p.Gln441Pro)
c.1358A>C (p.Gln453Pro)
2g.26285570A>GCA346097019HADHBc.1388A>G (p.Gln463Arg)
c.1019A>G (p.Gln340Arg)
n.2335A>G
c.1343A>G (p.Gln448Arg)
c.1322A>G (p.Gln441Arg)
c.1358A>G (p.Gln453Arg)
 gnomAD v4
2g.26285570A>TCA346097021HADHBc.1388A>T (p.Gln463Leu)
c.1019A>T (p.Gln340Leu)
n.2335A>T
c.1343A>T (p.Gln448Leu)
c.1322A>T (p.Gln441Leu)
c.1358A>T (p.Gln453Leu)
2g.26285571G>ACA425202281HADHBc.1389G>A (p.Gln463=)
c.1020G>A (p.Gln340=)
n.2336G>A
c.1344G>A (p.Gln448=)
c.1323G>A (p.Gln441=)
c.1359G>A (p.Gln453=)
2g.26285571G>CCA346097031HADHBc.1389G>C (p.Gln463His)
c.1020G>C (p.Gln340His)
n.2336G>C
c.1344G>C (p.Gln448His)
c.1323G>C (p.Gln441His)
c.1359G>C (p.Gln453His)
2g.26285571G>TCA346097032HADHBc.1389G>T (p.Gln463His)
c.1020G>T (p.Gln340His)
n.2336G>T
c.1344G>T (p.Gln448His)
c.1323G>T (p.Gln441His)
c.1359G>T (p.Gln453His)
2g.26285572delCA2698919067HADHBc.1389+1del
c.1020+1del
n.2336+1del
c.1344+1del
c.1323+1del
c.1359+1del
 dbSNP
2g.26285572G>ACA346097033HADHBc.1389+1G>A (n.1389+1G>A)
c.1020+1G>A (n.1020+1G>A)
n.2336+1G>A
c.1344+1G>A (n.1344+1G>A)
c.1323+1G>A (n.1323+1G>A)
c.1359+1G>A (n.1359+1G>A)
 ClinVar COSMIC COSMIC
2g.26285572G>CCA346097034HADHBc.1389+1G>C (n.1389+1G>C)
c.1020+1G>C (n.1020+1G>C)
n.2336+1G>C
c.1344+1G>C (n.1344+1G>C)
c.1323+1G>C (n.1323+1G>C)
c.1359+1G>C (n.1359+1G>C)
2g.26285572G>TCA346097035HADHBc.1389+1G>T (n.1389+1G>T)
c.1020+1G>T (n.1020+1G>T)
n.2336+1G>T
c.1344+1G>T (n.1344+1G>T)
c.1323+1G>T (n.1323+1G>T)
c.1359+1G>T (n.1359+1G>T)
2g.26285572_26285573insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGCCA2749235095HADHBc.1389+1_1389+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1389+1_1389+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC)
c.1020+1_1020+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1020+1_1020+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC)
n.2336+1_2336+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC
c.1344+1_1344+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1344+1_1344+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC)
c.1323+1_1323+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1323+1_1323+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC)
c.1359+1_1359+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC (n.1359+1_1359+2insGCCATGCTATGATAGTGGAAGCTTATCCAAAATAATAGATCCAGAAGAAGTGACCTGAAGTTTCTGTGCAACACTCACACTAGGCAATGCCATTTCAATGCATTACTAAATGACATTTGTAGTTCCTAGC)
2g.26285573T>ACA346097037HADHBc.1389+2T>A (n.1389+2T>A)
c.1020+2T>A (n.1020+2T>A)
n.2336+2T>A
c.1344+2T>A (n.1344+2T>A)
c.1323+2T>A (n.1323+2T>A)
c.1359+2T>A (n.1359+2T>A)
2g.26285573T>CCA1560526HADHBc.1389+2T>C (n.1389+2T>C)
c.1020+2T>C (n.1020+2T>C)
n.2336+2T>C
c.1344+2T>C (n.1344+2T>C)
c.1323+2T>C (n.1323+2T>C)
c.1359+2T>C (n.1359+2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285573T>GCA346097039HADHBc.1389+2T>G (n.1389+2T>G)
c.1020+2T>G (n.1020+2T>G)
n.2336+2T>G
c.1344+2T>G (n.1344+2T>G)
c.1323+2T>G (n.1323+2T>G)
c.1359+2T>G (n.1359+2T>G)
 dbSNP
2g.26285573T=CA1239745878HADHBc.1389+2T= (n.1389+2T=)
c.1020+2T= (n.1020+2T=)
n.2336+2T=
c.1344+2T= (n.1344+2T=)
c.1323+2T= (n.1323+2T=)
c.1359+2T= (n.1359+2T=)
2g.26285574A>GCA2658218255HADHBc.1389+3A>G (n.1389+3A>G)
c.1020+3A>G (n.1020+3A>G)
n.2336+3A>G
c.1344+3A>G (n.1344+3A>G)
c.1323+3A>G (n.1323+3A>G)
c.1359+3A>G (n.1359+3A>G)
 gnomAD v4
2g.26285575C>ACA2658218256HADHBc.1389+4C>A (n.1389+4C>A)
c.1020+4C>A (n.1020+4C>A)
n.2336+4C>A
c.1344+4C>A (n.1344+4C>A)
c.1323+4C>A (n.1323+4C>A)
c.1359+4C>A (n.1359+4C>A)
 gnomAD v4
2g.26285575C=CA1239745879HADHBc.1389+4C= (n.1389+4C=)
c.1020+4C= (n.1020+4C=)
n.2336+4C=
c.1344+4C= (n.1344+4C=)
c.1323+4C= (n.1323+4C=)
c.1359+4C= (n.1359+4C=)
2g.26285575C>GCA1239745880HADHBc.1389+4C>G (n.1389+4C>G)
c.1020+4C>G (n.1020+4C>G)
n.2336+4C>G
c.1344+4C>G (n.1344+4C>G)
c.1323+4C>G (n.1323+4C>G)
c.1359+4C>G (n.1359+4C>G)
 ClinVar dbSNP gnomAD v4
2g.26285575C>TCA1560527HADHBc.1389+4C>T (n.1389+4C>T)
c.1020+4C>T (n.1020+4C>T)
n.2336+4C>T
c.1344+4C>T (n.1344+4C>T)
c.1323+4C>T (n.1323+4C>T)
c.1359+4C>T (n.1359+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285576G>ACA531395199HADHBc.1389+5G>A (n.1389+5G>A)
c.1020+5G>A (n.1020+5G>A)
n.2336+5G>A
c.1344+5G>A (n.1344+5G>A)
c.1323+5G>A (n.1323+5G>A)
c.1359+5G>A (n.1359+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.26285576G=CA1239745881HADHBc.1389+5G= (n.1389+5G=)
c.1020+5G= (n.1020+5G=)
n.2336+5G=
c.1344+5G= (n.1344+5G=)
c.1323+5G= (n.1323+5G=)
c.1359+5G= (n.1359+5G=)
2g.26285576G>TCA2576697591HADHBc.1389+5G>T (n.1389+5G>T)
c.1020+5G>T (n.1020+5G>T)
n.2336+5G>T
c.1344+5G>T (n.1344+5G>T)
c.1323+5G>T (n.1323+5G>T)
c.1359+5G>T (n.1359+5G>T)
2g.26285578T=CA1239745882HADHBc.1389+7T= (n.1389+7T=)
c.1020+7T= (n.1020+7T=)
n.2336+7T=
c.1344+7T= (n.1344+7T=)
c.1323+7T= (n.1323+7T=)
c.1359+7T= (n.1359+7T=)
2g.26285579A=CA1239745883HADHBc.1389+8A= (n.1389+8A=)
c.1020+8A= (n.1020+8A=)
n.2336+8A=
c.1344+8A= (n.1344+8A=)
c.1323+8A= (n.1323+8A=)
c.1359+8A= (n.1359+8A=)
2g.26285579A>GCA44343110HADHBc.1389+8A>G (n.1389+8A>G)
c.1020+8A>G (n.1020+8A>G)
n.2336+8A>G
c.1344+8A>G (n.1344+8A>G)
c.1323+8A>G (n.1323+8A>G)
c.1359+8A>G (n.1359+8A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.26285579dupCA658657012HADHBc.1389+8dup (n.1389+8dup)
c.1020+8dup (n.1020+8dup)
n.2336+8dup
c.1344+8dup (n.1344+8dup)
c.1323+8dup (n.1323+8dup)
c.1359+8dup (n.1359+8dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26285579_26285584delCA2658218257HADHBc.1389+8_1389+13del (n.1389+8_1389+13del)
c.1020+8_1020+13del (n.1020+8_1020+13del)
n.2336+8_2336+13del
c.1344+8_1344+13del (n.1344+8_1344+13del)
c.1323+8_1323+13del (n.1323+8_1323+13del)
c.1359+8_1359+13del (n.1359+8_1359+13del)
 gnomAD v4
2g.26285580C>TCA2658218258HADHBc.1389+9C>T (n.1389+9C>T)
c.1020+9C>T (n.1020+9C>T)
n.2336+9C>T
c.1344+9C>T (n.1344+9C>T)
c.1323+9C>T (n.1323+9C>T)
c.1359+9C>T (n.1359+9C>T)
 gnomAD v4
2g.26285581A=CA1239745884HADHBc.1389+10A= (n.1389+10A=)
c.1020+10A= (n.1020+10A=)
n.2336+10A=
c.1344+10A= (n.1344+10A=)
c.1323+10A= (n.1323+10A=)
c.1359+10A= (n.1359+10A=)
2g.26285581A>CCA1239745885HADHBc.1389+10A>C (n.1389+10A>C)
c.1020+10A>C (n.1020+10A>C)
n.2336+10A>C
c.1344+10A>C (n.1344+10A>C)
c.1323+10A>C (n.1323+10A>C)
c.1359+10A>C (n.1359+10A>C)
 ClinVar dbSNP gnomAD v4
2g.26285581A>GCA2576697592HADHBc.1389+10A>G (n.1389+10A>G)
c.1020+10A>G (n.1020+10A>G)
n.2336+10A>G
c.1344+10A>G (n.1344+10A>G)
c.1323+10A>G (n.1323+10A>G)
c.1359+10A>G (n.1359+10A>G)
 ClinVar gnomAD v4
2g.26285582G>ACA2580066175HADHBc.1389+11G>A (n.1389+11G>A)
c.1020+11G>A (n.1020+11G>A)
n.2336+11G>A
c.1344+11G>A (n.1344+11G>A)
c.1323+11G>A (n.1323+11G>A)
c.1359+11G>A (n.1359+11G>A)
 ClinVar
2g.26285582G>TCA2658218259HADHBc.1389+11G>T (n.1389+11G>T)
c.1020+11G>T (n.1020+11G>T)
n.2336+11G>T
c.1344+11G>T (n.1344+11G>T)
c.1323+11G>T (n.1323+11G>T)
c.1359+11G>T (n.1359+11G>T)
 gnomAD v4
2g.26285585delCA2658218260HADHBc.1389+14del (n.1389+14del)
c.1020+14del (n.1020+14del)
n.2336+14del
c.1344+14del (n.1344+14del)
c.1323+14del (n.1323+14del)
c.1359+14del (n.1359+14del)
 gnomAD v4
2g.26285587G>ACA2658218261HADHBc.1389+16G>A (n.1389+16G>A)
c.1020+16G>A (n.1020+16G>A)
n.2336+16G>A
c.1344+16G>A (n.1344+16G>A)
c.1323+16G>A (n.1323+16G>A)
c.1359+16G>A (n.1359+16G>A)
 gnomAD v4
2g.26285589C>ACA2658218262HADHBc.1389+18C>A (n.1389+18C>A)
c.1020+18C>A (n.1020+18C>A)
n.2336+18C>A
c.1344+18C>A (n.1344+18C>A)
c.1323+18C>A (n.1323+18C>A)
c.1359+18C>A (n.1359+18C>A)
 gnomAD v4
2g.26285589C>TCA2576697593HADHBc.1389+18C>T (n.1389+18C>T)
c.1020+18C>T (n.1020+18C>T)
n.2336+18C>T
c.1344+18C>T (n.1344+18C>T)
c.1323+18C>T (n.1323+18C>T)
c.1359+18C>T (n.1359+18C>T)
 gnomAD v4
2g.26285590A=CA1239745886HADHBc.1389+19A= (n.1389+19A=)
c.1020+19A= (n.1020+19A=)
n.2336+19A=
c.1344+19A= (n.1344+19A=)
c.1323+19A= (n.1323+19A=)
c.1359+19A= (n.1359+19A=)
2g.26285590A>GCA1560528HADHBc.1389+19A>G (n.1389+19A>G)
c.1020+19A>G (n.1020+19A>G)
n.2336+19A>G
c.1344+19A>G (n.1344+19A>G)
c.1323+19A>G (n.1323+19A>G)
c.1359+19A>G (n.1359+19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285591T>CCA531395200HADHBc.1389+20T>C (n.1389+20T>C)
c.1020+20T>C (n.1020+20T>C)
n.2336+20T>C
c.1344+20T>C (n.1344+20T>C)
c.1323+20T>C (n.1323+20T>C)
c.1359+20T>C (n.1359+20T>C)
 dbSNP gnomAD v2
2g.26285591T=CA1239745887HADHBc.1389+20T= (n.1389+20T=)
c.1020+20T= (n.1020+20T=)
n.2336+20T=
c.1344+20T= (n.1344+20T=)
c.1323+20T= (n.1323+20T=)
c.1359+20T= (n.1359+20T=)
2g.26285592A>GCA2658218263HADHBc.1389+21A>G (n.1389+21A>G)
c.1020+21A>G (n.1020+21A>G)
n.2336+21A>G
c.1344+21A>G (n.1344+21A>G)
c.1323+21A>G (n.1323+21A>G)
c.1359+21A>G (n.1359+21A>G)
 gnomAD v4
2g.26285592_26285593delinsAGCA1239745888HADHBc.1389+21_1389+22delinsAG (n.1389+21_1389+22delinsAG)
c.1020+21_1020+22delinsAG (n.1020+21_1020+22delinsAG)
n.2336+21_2336+22delinsAG
c.1344+21_1344+22delinsAG (n.1344+21_1344+22delinsAG)
c.1323+21_1323+22delinsAG (n.1323+21_1323+22delinsAG)
c.1359+21_1359+22delinsAG (n.1359+21_1359+22delinsAG)
2g.26285593G>ACA1560529HADHBc.1389+22G>A (n.1389+22G>A)
c.1020+22G>A (n.1020+22G>A)
n.2336+22G>A
c.1344+22G>A (n.1344+22G>A)
c.1323+22G>A (n.1323+22G>A)
c.1359+22G>A (n.1359+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285593G=CA1239745889HADHBc.1389+22G= (n.1389+22G=)
c.1020+22G= (n.1020+22G=)
n.2336+22G=
c.1344+22G= (n.1344+22G=)
c.1323+22G= (n.1323+22G=)
c.1359+22G= (n.1359+22G=)
2g.26285593G>TCA2576697594HADHBc.1389+22G>T (n.1389+22G>T)
c.1020+22G>T (n.1020+22G>T)
n.2336+22G>T
c.1344+22G>T (n.1344+22G>T)
c.1323+22G>T (n.1323+22G>T)
c.1359+22G>T (n.1359+22G>T)
2g.26285594delCA1028608612HADHBc.1389+23del (n.1389+23del)
c.1020+23del (n.1020+23del)
n.2336+23del
c.1344+23del (n.1344+23del)
c.1323+23del (n.1323+23del)
c.1359+23del (n.1359+23del)
 dbSNP gnomAD v3 gnomAD v4
2g.26285595A=CA1239745891HADHBc.1389+24A= (n.1389+24A=)
c.1020+24A= (n.1020+24A=)
n.2336+24A=
c.1344+24A= (n.1344+24A=)
c.1323+24A= (n.1323+24A=)
c.1359+24A= (n.1359+24A=)
2g.26285595A>CCA1239745892HADHBc.1389+24A>C (n.1389+24A>C)
c.1020+24A>C (n.1020+24A>C)
n.2336+24A>C
c.1344+24A>C (n.1344+24A>C)
c.1323+24A>C (n.1323+24A>C)
c.1359+24A>C (n.1359+24A>C)
 dbSNP gnomAD v4
2g.26285595_26285596delinsACCA1239745890HADHBc.1389+24_1389+25delinsAC (n.1389+24_1389+25delinsAC)
c.1020+24_1020+25delinsAC (n.1020+24_1020+25delinsAC)
n.2336+24_2336+25delinsAC
c.1344+24_1344+25delinsAC (n.1344+24_1344+25delinsAC)
c.1323+24_1323+25delinsAC (n.1323+24_1323+25delinsAC)
c.1359+24_1359+25delinsAC (n.1359+24_1359+25delinsAC)
2g.26285596C>ACA2548130204HADHBc.1389+25C>A (n.1389+25C>A)
c.1020+25C>A (n.1020+25C>A)
n.2336+25C>A
c.1344+25C>A (n.1344+25C>A)
c.1323+25C>A (n.1323+25C>A)
c.1359+25C>A (n.1359+25C>A)
 gnomAD v4
2g.26285596C=CA1239745893HADHBc.1389+25C= (n.1389+25C=)
c.1020+25C= (n.1020+25C=)
n.2336+25C=
c.1344+25C= (n.1344+25C=)
c.1323+25C= (n.1323+25C=)
c.1359+25C= (n.1359+25C=)
2g.26285596C>TCA1560530HADHBc.1389+25C>T (n.1389+25C>T)
c.1020+25C>T (n.1020+25C>T)
n.2336+25C>T
c.1344+25C>T (n.1344+25C>T)
c.1323+25C>T (n.1323+25C>T)
c.1359+25C>T (n.1359+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285598delCA531395201HADHBc.1389+27del (n.1389+27del)
c.1020+27del (n.1020+27del)
n.2336+27del
c.1344+27del (n.1344+27del)
c.1323+27del (n.1323+27del)
c.1359+27del (n.1359+27del)
 dbSNP gnomAD v2 gnomAD v4
2g.26285597C>ACA2658218264HADHBc.1389+26C>A (n.1389+26C>A)
c.1020+26C>A (n.1020+26C>A)
n.2336+26C>A
c.1344+26C>A (n.1344+26C>A)
c.1323+26C>A (n.1323+26C>A)
c.1359+26C>A (n.1359+26C>A)
 gnomAD v4
2g.26285597C>GCA2658218265HADHBc.1389+26C>G (n.1389+26C>G)
c.1020+26C>G (n.1020+26C>G)
n.2336+26C>G
c.1344+26C>G (n.1344+26C>G)
c.1323+26C>G (n.1323+26C>G)
c.1359+26C>G (n.1359+26C>G)
 gnomAD v4
2g.26285597_26285599delinsCCTCA1239745894HADHBc.1389+26_1389+28delinsCCT (n.1389+26_1389+28delinsCCT)
c.1020+26_1020+28delinsCCT (n.1020+26_1020+28delinsCCT)
n.2336+26_2336+28delinsCCT
c.1344+26_1344+28delinsCCT (n.1344+26_1344+28delinsCCT)
c.1323+26_1323+28delinsCCT (n.1323+26_1323+28delinsCCT)
c.1359+26_1359+28delinsCCT (n.1359+26_1359+28delinsCCT)
2g.26285598C>ACA2658218266HADHBc.1389+27C>A (n.1389+27C>A)
c.1020+27C>A (n.1020+27C>A)
n.2336+27C>A
c.1344+27C>A (n.1344+27C>A)
c.1323+27C>A (n.1323+27C>A)
c.1359+27C>A (n.1359+27C>A)
 gnomAD v4
2g.26285599_26285600delCA1560531HADHBc.1389+28_1389+29del (n.1389+28_1389+29del)
c.1020+28_1020+29del (n.1020+28_1020+29del)
n.2336+28_2336+29del
c.1344+28_1344+29del (n.1344+28_1344+29del)
c.1323+28_1323+29del (n.1323+28_1323+29del)
c.1359+28_1359+29del (n.1359+28_1359+29del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285599T>CCA2658218267HADHBc.1389+28T>C (n.1389+28T>C)
c.1020+28T>C (n.1020+28T>C)
n.2336+28T>C
c.1344+28T>C (n.1344+28T>C)
c.1323+28T>C (n.1323+28T>C)
c.1359+28T>C (n.1359+28T>C)
 gnomAD v4
2g.26285601delCA2658218268HADHBc.1389+30del (n.1389+30del)
c.1020+30del (n.1020+30del)
n.2336+30del
c.1344+30del (n.1344+30del)
c.1323+30del (n.1323+30del)
c.1359+30del (n.1359+30del)
 gnomAD v4
2g.26285601C>ACA2658218269HADHBc.1389+30C>A (n.1389+30C>A)
c.1020+30C>A (n.1020+30C>A)
n.2336+30C>A
c.1344+30C>A (n.1344+30C>A)
c.1323+30C>A (n.1323+30C>A)
c.1359+30C>A (n.1359+30C>A)
 gnomAD v4
2g.26285606_26285607delCA1028608615HADHBc.1389+35_1389+36del (n.1389+35_1389+36del)
c.1020+35_1020+36del (n.1020+35_1020+36del)
n.2336+35_2336+36del
c.1344+35_1344+36del (n.1344+35_1344+36del)
c.1323+35_1323+36del (n.1323+35_1323+36del)
c.1359+35_1359+36del (n.1359+35_1359+36del)
 gnomAD v3 gnomAD v4
2g.26285603G=CA1239745895HADHBc.1389+32G= (n.1389+32G=)
c.1020+32G= (n.1020+32G=)
n.2336+32G=
c.1344+32G= (n.1344+32G=)
c.1323+32G= (n.1323+32G=)
c.1359+32G= (n.1359+32G=)
2g.26285604A>GCA2658218270HADHBc.1389+33A>G (n.1389+33A>G)
c.1020+33A>G (n.1020+33A>G)
n.2336+33A>G
c.1344+33A>G (n.1344+33A>G)
c.1323+33A>G (n.1323+33A>G)
c.1359+33A>G (n.1359+33A>G)
 gnomAD v4
2g.26285604dupCA1560532HADHBc.1389+33dup (n.1389+33dup)
c.1020+33dup (n.1020+33dup)
n.2336+33dup
c.1344+33dup (n.1344+33dup)
c.1323+33dup (n.1323+33dup)
c.1359+33dup (n.1359+33dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285605G>ACA2576697595HADHBc.1389+34G>A (n.1389+34G>A)
c.1020+34G>A (n.1020+34G>A)
n.2336+34G>A
c.1344+34G>A (n.1344+34G>A)
c.1323+34G>A (n.1323+34G>A)
c.1359+34G>A (n.1359+34G>A)
 gnomAD v4
2g.26285605G>TCA2658218271HADHBc.1389+34G>T (n.1389+34G>T)
c.1020+34G>T (n.1020+34G>T)
n.2336+34G>T
c.1344+34G>T (n.1344+34G>T)
c.1323+34G>T (n.1323+34G>T)
c.1359+34G>T (n.1359+34G>T)
 gnomAD v4
2g.26285606A>GCA2576697596HADHBc.1389+35A>G (n.1389+35A>G)
c.1020+35A>G (n.1020+35A>G)
n.2336+35A>G
c.1344+35A>G (n.1344+35A>G)
c.1323+35A>G (n.1323+35A>G)
c.1359+35A>G (n.1359+35A>G)
2g.26285606A>TCA2658218272HADHBc.1389+35A>T (n.1389+35A>T)
c.1020+35A>T (n.1020+35A>T)
n.2336+35A>T
c.1344+35A>T (n.1344+35A>T)
c.1323+35A>T (n.1323+35A>T)
c.1359+35A>T (n.1359+35A>T)
 gnomAD v4
2g.26285607G>TCA2658218273HADHBc.1389+36G>T (n.1389+36G>T)
c.1020+36G>T (n.1020+36G>T)
n.2336+36G>T
c.1344+36G>T (n.1344+36G>T)
c.1323+36G>T (n.1323+36G>T)
c.1359+36G>T (n.1359+36G>T)
 gnomAD v4
2g.26285608T>ACA2658218274HADHBc.1389+37T>A (n.1389+37T>A)
c.1020+37T>A (n.1020+37T>A)
n.2336+37T>A
c.1344+37T>A (n.1344+37T>A)
c.1323+37T>A (n.1323+37T>A)
c.1359+37T>A (n.1359+37T>A)
 gnomAD v4
2g.26285608T>CCA2658218275HADHBc.1389+37T>C (n.1389+37T>C)
c.1020+37T>C (n.1020+37T>C)
n.2336+37T>C
c.1344+37T>C (n.1344+37T>C)
c.1323+37T>C (n.1323+37T>C)
c.1359+37T>C (n.1359+37T>C)
 gnomAD v4
2g.26285609C>ACA2658218276HADHBc.1389+38C>A (n.1389+38C>A)
c.1020+38C>A (n.1020+38C>A)
n.2336+38C>A
c.1344+38C>A (n.1344+38C>A)
c.1323+38C>A (n.1323+38C>A)
c.1359+38C>A (n.1359+38C>A)
 gnomAD v4
2g.26285610A>TCA1028608619HADHBc.1389+39A>T (n.1389+39A>T)
c.1020+39A>T (n.1020+39A>T)
n.2336+39A>T
c.1344+39A>T (n.1344+39A>T)
c.1323+39A>T (n.1323+39A>T)
c.1359+39A>T (n.1359+39A>T)
 gnomAD v3 gnomAD v4
2g.26285610_26285611delinsATCA1239745896HADHBc.1389+39_1389+40delinsAT (n.1389+39_1389+40delinsAT)
c.1020+39_1020+40delinsAT (n.1020+39_1020+40delinsAT)
n.2336+39_2336+40delinsAT
c.1344+39_1344+40delinsAT (n.1344+39_1344+40delinsAT)
c.1323+39_1323+40delinsAT (n.1323+39_1323+40delinsAT)
c.1359+39_1359+40delinsAT (n.1359+39_1359+40delinsAT)
2g.26285614delCA1239745897HADHBc.1389+43del (n.1389+43del)
c.1020+43del (n.1020+43del)
n.2336+43del
c.1344+43del (n.1344+43del)
c.1323+43del (n.1323+43del)
c.1359+43del (n.1359+43del)
 dbSNP gnomAD v4
2g.26285612T>CCA2576697597HADHBc.1389+41T>C (n.1389+41T>C)
c.1020+41T>C (n.1020+41T>C)
n.2336+41T>C
c.1344+41T>C (n.1344+41T>C)
c.1323+41T>C (n.1323+41T>C)
c.1359+41T>C (n.1359+41T>C)
2g.26285612_26285613insCCAAGAAAACA2658218277HADHBc.1389+41_1389+42insCCAAGAAAA (n.1389+41_1389+42insCCAAGAAAA)
c.1020+41_1020+42insCCAAGAAAA (n.1020+41_1020+42insCCAAGAAAA)
n.2336+41_2336+42insCCAAGAAAA
c.1344+41_1344+42insCCAAGAAAA (n.1344+41_1344+42insCCAAGAAAA)
c.1323+41_1323+42insCCAAGAAAA (n.1323+41_1323+42insCCAAGAAAA)
c.1359+41_1359+42insCCAAGAAAA (n.1359+41_1359+42insCCAAGAAAA)
 gnomAD v4

Number of alleles fetched