Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26285415G>ACA425201975HADHBc.1233G>A (p.Leu411=)
c.864G>A (p.Leu288=)
n.2180G>A
c.1188G>A (p.Leu396=)
c.1167G>A (p.Leu389=)
c.1203G>A (p.Leu401=)
2g.26285415G>CCA346096221HADHBc.1233G>C (p.Leu411Phe)
c.864G>C (p.Leu288Phe)
n.2180G>C
c.1188G>C (p.Leu396Phe)
c.1167G>C (p.Leu389Phe)
c.1203G>C (p.Leu401Phe)
2g.26285415G>TCA346096222HADHBc.1233G>T (p.Leu411Phe)
c.864G>T (p.Leu288Phe)
n.2180G>T
c.1188G>T (p.Leu396Phe)
c.1167G>T (p.Leu389Phe)
c.1203G>T (p.Leu401Phe)
2g.26285416C>ACA346096223HADHBc.1234C>A (p.Pro412Thr)
c.865C>A (p.Pro289Thr)
n.2181C>A
c.1189C>A (p.Pro397Thr)
c.1168C>A (p.Pro390Thr)
c.1204C>A (p.Pro402Thr)
2g.26285416C>GCA346096224HADHBc.1234C>G (p.Pro412Ala)
c.865C>G (p.Pro289Ala)
n.2181C>G
c.1189C>G (p.Pro397Ala)
c.1168C>G (p.Pro390Ala)
c.1204C>G (p.Pro402Ala)
2g.26285416C>TCA346096225HADHBc.1234C>T (p.Pro412Ser)
c.865C>T (p.Pro289Ser)
n.2181C>T
c.1189C>T (p.Pro397Ser)
c.1168C>T (p.Pro390Ser)
c.1204C>T (p.Pro402Ser)
2g.26285417C>ACA346096226HADHBc.1235C>A (p.Pro412His)
c.866C>A (p.Pro289His)
n.2182C>A
c.1190C>A (p.Pro397His)
c.1169C>A (p.Pro390His)
c.1205C>A (p.Pro402His)
2g.26285417C=CA1239745819HADHBc.1235C= (p.Pro412=)
c.866C= (p.Pro289=)
n.2182C=
c.1190C= (p.Pro397=)
c.1169C= (p.Pro390=)
c.1205C= (p.Pro402=)
2g.26285417C>GCA346096227HADHBc.1235C>G (p.Pro412Arg)
c.866C>G (p.Pro289Arg)
n.2182C>G
c.1190C>G (p.Pro397Arg)
c.1169C>G (p.Pro390Arg)
c.1205C>G (p.Pro402Arg)
 COSMIC
2g.26285417C>TCA1560502HADHBc.1235C>T (p.Pro412Leu)
c.866C>T (p.Pro289Leu)
n.2182C>T
c.1190C>T (p.Pro397Leu)
c.1169C>T (p.Pro390Leu)
c.1205C>T (p.Pro402Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285418T>ACA425201976HADHBc.1236T>A (p.Pro412=)
c.867T>A (p.Pro289=)
n.2183T>A
c.1191T>A (p.Pro397=)
c.1170T>A (p.Pro390=)
c.1206T>A (p.Pro402=)
2g.26285418T>CCA425201978HADHBc.1236T>C (p.Pro412=)
c.867T>C (p.Pro289=)
n.2183T>C
c.1191T>C (p.Pro397=)
c.1170T>C (p.Pro390=)
c.1206T>C (p.Pro402=)
2g.26285418T>GCA425201977HADHBc.1236T>G (p.Pro412=)
c.867T>G (p.Pro289=)
n.2183T>G
c.1191T>G (p.Pro397=)
c.1170T>G (p.Pro390=)
c.1206T>G (p.Pro402=)
2g.26285419C>ACA346096228HADHBc.1237C>A (p.Pro413Thr)
c.868C>A (p.Pro290Thr)
n.2184C>A
c.1192C>A (p.Pro398Thr)
c.1171C>A (p.Pro391Thr)
c.1207C>A (p.Pro403Thr)
2g.26285419C=CA1239745820HADHBc.1237C= (p.Pro413=)
c.868C= (p.Pro290=)
n.2184C=
c.1192C= (p.Pro398=)
c.1171C= (p.Pro391=)
c.1207C= (p.Pro403=)
2g.26285419C>GCA346096229HADHBc.1237C>G (p.Pro413Ala)
c.868C>G (p.Pro290Ala)
n.2184C>G
c.1192C>G (p.Pro398Ala)
c.1171C>G (p.Pro391Ala)
c.1207C>G (p.Pro403Ala)
2g.26285419C>TCA346096230HADHBc.1237C>T (p.Pro413Ser)
c.868C>T (p.Pro290Ser)
n.2184C>T
c.1192C>T (p.Pro398Ser)
c.1171C>T (p.Pro391Ser)
c.1207C>T (p.Pro403Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.26285420C>ACA346096231HADHBc.1238C>A (p.Pro413His)
c.869C>A (p.Pro290His)
n.2185C>A
c.1193C>A (p.Pro398His)
c.1172C>A (p.Pro391His)
c.1208C>A (p.Pro403His)
2g.26285420C>GCA346096232HADHBc.1238C>G (p.Pro413Arg)
c.869C>G (p.Pro290Arg)
n.2185C>G
c.1193C>G (p.Pro398Arg)
c.1172C>G (p.Pro391Arg)
c.1208C>G (p.Pro403Arg)
2g.26285420C>TCA346096233HADHBc.1238C>T (p.Pro413Leu)
c.869C>T (p.Pro290Leu)
n.2185C>T
c.1193C>T (p.Pro398Leu)
c.1172C>T (p.Pro391Leu)
c.1208C>T (p.Pro403Leu)
 gnomAD v4 COSMIC
2g.26285421T>ACA425201979HADHBc.1239T>A (p.Pro413=)
c.870T>A (p.Pro290=)
n.2186T>A
c.1194T>A (p.Pro398=)
c.1173T>A (p.Pro391=)
c.1209T>A (p.Pro403=)
2g.26285421T>CCA425201980HADHBc.1239T>C (p.Pro413=)
c.870T>C (p.Pro290=)
n.2186T>C
c.1194T>C (p.Pro398=)
c.1173T>C (p.Pro391=)
c.1209T>C (p.Pro403=)
2g.26285421T>GCA425201981HADHBc.1239T>G (p.Pro413=)
c.870T>G (p.Pro290=)
n.2186T>G
c.1194T>G (p.Pro398=)
c.1173T>G (p.Pro391=)
c.1209T>G (p.Pro403=)
2g.26285423delCA2658218250HADHBc.1241del (p.Leu414TrpfsTer?)
c.872del (p.Leu291TrpfsTer?)
n.2188del
c.1196del (p.Leu399TrpfsTer?)
c.1175del (p.Leu392TrpfsTer?)
c.1211del (p.Leu404TrpfsTer?)
 gnomAD v4
2g.26285422T>ACA346096235HADHBc.1240T>A (p.Leu414Met)
c.871T>A (p.Leu291Met)
n.2187T>A
c.1195T>A (p.Leu399Met)
c.1174T>A (p.Leu392Met)
c.1210T>A (p.Leu404Met)
2g.26285422T>CCA425201982HADHBc.1240T>C (p.Leu414=)
c.871T>C (p.Leu291=)
n.2187T>C
c.1195T>C (p.Leu399=)
c.1174T>C (p.Leu392=)
c.1210T>C (p.Leu404=)
2g.26285422T>GCA346096234HADHBc.1240T>G (p.Leu414Val)
c.871T>G (p.Leu291Val)
n.2187T>G
c.1195T>G (p.Leu399Val)
c.1174T>G (p.Leu392Val)
c.1210T>G (p.Leu404Val)
2g.26285423T>ACA346096236HADHBc.1241T>A (p.Leu414Ter)
c.872T>A (p.Leu291Ter)
n.2188T>A
c.1196T>A (p.Leu399Ter)
c.1175T>A (p.Leu392Ter)
c.1211T>A (p.Leu404Ter)
2g.26285423T>CCA346096237HADHBc.1241T>C (p.Leu414Ser)
c.872T>C (p.Leu291Ser)
n.2188T>C
c.1196T>C (p.Leu399Ser)
c.1175T>C (p.Leu392Ser)
c.1211T>C (p.Leu404Ser)
2g.26285423T>GCA346096238HADHBc.1241T>G (p.Leu414Trp)
c.872T>G (p.Leu291Trp)
n.2188T>G
c.1196T>G (p.Leu399Trp)
c.1175T>G (p.Leu392Trp)
c.1211T>G (p.Leu404Trp)
2g.26285424G>ACA425201983HADHBc.1242G>A (p.Leu414=)
c.873G>A (p.Leu291=)
n.2189G>A
c.1197G>A (p.Leu399=)
c.1176G>A (p.Leu392=)
c.1212G>A (p.Leu404=)
2g.26285424G>CCA346096240HADHBc.1242G>C (p.Leu414Phe)
c.873G>C (p.Leu291Phe)
n.2189G>C
c.1197G>C (p.Leu399Phe)
c.1176G>C (p.Leu392Phe)
c.1212G>C (p.Leu404Phe)
2g.26285424G>TCA346096241HADHBc.1242G>T (p.Leu414Phe)
c.873G>T (p.Leu291Phe)
n.2189G>T
c.1197G>T (p.Leu399Phe)
c.1176G>T (p.Leu392Phe)
c.1212G>T (p.Leu404Phe)
2g.26285425G>ACA346096242HADHBc.1243G>A (p.Glu415Lys)
c.874G>A (p.Glu292Lys)
n.2190G>A
c.1198G>A (p.Glu400Lys)
c.1177G>A (p.Glu393Lys)
c.1213G>A (p.Glu405Lys)
 gnomAD v4
2g.26285425G>CCA346096243HADHBc.1243G>C (p.Glu415Gln)
c.874G>C (p.Glu292Gln)
n.2190G>C
c.1198G>C (p.Glu400Gln)
c.1177G>C (p.Glu393Gln)
c.1213G>C (p.Glu405Gln)
2g.26285425G>TCA346096244HADHBc.1243G>T (p.Glu415Ter)
c.874G>T (p.Glu292Ter)
n.2190G>T
c.1198G>T (p.Glu400Ter)
c.1177G>T (p.Glu393Ter)
c.1213G>T (p.Glu405Ter)
2g.26285426A=CA1239745821HADHBc.1244A= (p.Glu415=)
c.875A= (p.Glu292=)
n.2191A=
c.1199A= (p.Glu400=)
c.1178A= (p.Glu393=)
c.1214A= (p.Glu405=)
2g.26285426A>CCA346096245HADHBc.1244A>C (p.Glu415Ala)
c.875A>C (p.Glu292Ala)
n.2191A>C
c.1199A>C (p.Glu400Ala)
c.1178A>C (p.Glu393Ala)
c.1214A>C (p.Glu405Ala)
2g.26285426A>GCA44342832HADHBc.1244A>G (p.Glu415Gly)
c.875A>G (p.Glu292Gly)
n.2191A>G
c.1199A>G (p.Glu400Gly)
c.1178A>G (p.Glu393Gly)
c.1214A>G (p.Glu405Gly)
 ClinVar dbSNP gnomAD v4
2g.26285426A>TCA346096246HADHBc.1244A>T (p.Glu415Val)
c.875A>T (p.Glu292Val)
n.2191A>T
c.1199A>T (p.Glu400Val)
c.1178A>T (p.Glu393Val)
c.1214A>T (p.Glu405Val)
2g.26285427G>ACA425201984HADHBc.1245G>A (p.Glu415=)
c.876G>A (p.Glu292=)
n.2192G>A
c.1200G>A (p.Glu400=)
c.1179G>A (p.Glu393=)
c.1215G>A (p.Glu405=)
2g.26285427G>CCA346096247HADHBc.1245G>C (p.Glu415Asp)
c.876G>C (p.Glu292Asp)
n.2192G>C
c.1200G>C (p.Glu400Asp)
c.1179G>C (p.Glu393Asp)
c.1215G>C (p.Glu405Asp)
2g.26285427G>TCA346096248HADHBc.1245G>T (p.Glu415Asp)
c.876G>T (p.Glu292Asp)
n.2192G>T
c.1200G>T (p.Glu400Asp)
c.1179G>T (p.Glu393Asp)
c.1215G>T (p.Glu405Asp)
2g.26285428A>CCA346096249HADHBc.1246A>C (p.Lys416Gln)
c.877A>C (p.Lys293Gln)
n.2193A>C
c.1201A>C (p.Lys401Gln)
c.1180A>C (p.Lys394Gln)
c.1216A>C (p.Lys406Gln)
2g.26285428A>GCA346096251HADHBc.1246A>G (p.Lys416Glu)
c.877A>G (p.Lys293Glu)
n.2193A>G
c.1201A>G (p.Lys401Glu)
c.1180A>G (p.Lys394Glu)
c.1216A>G (p.Lys406Glu)
2g.26285428A>TCA346096250HADHBc.1246A>T (p.Lys416Ter)
c.877A>T (p.Lys293Ter)
n.2193A>T
c.1201A>T (p.Lys401Ter)
c.1180A>T (p.Lys394Ter)
c.1216A>T (p.Lys406Ter)
2g.26285429A>CCA346096252HADHBc.1247A>C (p.Lys416Thr)
c.878A>C (p.Lys293Thr)
n.2194A>C
c.1202A>C (p.Lys401Thr)
c.1181A>C (p.Lys394Thr)
c.1217A>C (p.Lys406Thr)
2g.26285429A>GCA346096253HADHBc.1247A>G (p.Lys416Arg)
c.878A>G (p.Lys293Arg)
n.2194A>G
c.1202A>G (p.Lys401Arg)
c.1181A>G (p.Lys394Arg)
c.1217A>G (p.Lys406Arg)
 gnomAD v4
2g.26285429A>TCA346096254HADHBc.1247A>T (p.Lys416Met)
c.878A>T (p.Lys293Met)
n.2194A>T
c.1202A>T (p.Lys401Met)
c.1181A>T (p.Lys394Met)
c.1217A>T (p.Lys406Met)
2g.26285430G>ACA425201985HADHBc.1248G>A (p.Lys416=)
c.879G>A (p.Lys293=)
n.2195G>A
c.1203G>A (p.Lys401=)
c.1182G>A (p.Lys394=)
c.1218G>A (p.Lys406=)
 gnomAD v4
2g.26285430G>CCA346096255HADHBc.1248G>C (p.Lys416Asn)
c.879G>C (p.Lys293Asn)
n.2195G>C
c.1203G>C (p.Lys401Asn)
c.1182G>C (p.Lys394Asn)
c.1218G>C (p.Lys406Asn)
2g.26285430G>TCA346096256HADHBc.1248G>T (p.Lys416Asn)
c.879G>T (p.Lys293Asn)
n.2195G>T
c.1203G>T (p.Lys401Asn)
c.1182G>T (p.Lys394Asn)
c.1218G>T (p.Lys406Asn)
 gnomAD v4
2g.26285431T>ACA346096257HADHBc.1249T>A (p.Phe417Ile)
c.880T>A (p.Phe294Ile)
n.2196T>A
c.1204T>A (p.Phe402Ile)
c.1183T>A (p.Phe395Ile)
c.1219T>A (p.Phe407Ile)
2g.26285431T>CCA346096258HADHBc.1249T>C (p.Phe417Leu)
c.880T>C (p.Phe294Leu)
n.2196T>C
c.1204T>C (p.Phe402Leu)
c.1183T>C (p.Phe395Leu)
c.1219T>C (p.Phe407Leu)
 dbSNP
2g.26285431T>GCA346096259HADHBc.1249T>G (p.Phe417Val)
c.880T>G (p.Phe294Val)
n.2196T>G
c.1204T>G (p.Phe402Val)
c.1183T>G (p.Phe395Val)
c.1219T>G (p.Phe407Val)
2g.26285432T>ACA346096260HADHBc.1250T>A (p.Phe417Tyr)
c.881T>A (p.Phe294Tyr)
n.2197T>A
c.1205T>A (p.Phe402Tyr)
c.1184T>A (p.Phe395Tyr)
c.1220T>A (p.Phe407Tyr)
2g.26285432T>CCA346096261HADHBc.1250T>C (p.Phe417Ser)
c.881T>C (p.Phe294Ser)
n.2197T>C
c.1205T>C (p.Phe402Ser)
c.1184T>C (p.Phe395Ser)
c.1220T>C (p.Phe407Ser)
2g.26285432T>GCA346096262HADHBc.1250T>G (p.Phe417Cys)
c.881T>G (p.Phe294Cys)
n.2197T>G
c.1205T>G (p.Phe402Cys)
c.1184T>G (p.Phe395Cys)
c.1220T>G (p.Phe407Cys)
2g.26285433T>ACA346096263HADHBc.1251T>A (p.Phe417Leu)
c.882T>A (p.Phe294Leu)
n.2198T>A
c.1206T>A (p.Phe402Leu)
c.1185T>A (p.Phe395Leu)
c.1221T>A (p.Phe407Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.26285433T>CCA425201986HADHBc.1251T>C (p.Phe417=)
c.882T>C (p.Phe294=)
n.2198T>C
c.1206T>C (p.Phe402=)
c.1185T>C (p.Phe395=)
c.1221T>C (p.Phe407=)
2g.26285433T>GCA1560503HADHBc.1251T>G (p.Phe417Leu)
c.882T>G (p.Phe294Leu)
n.2198T>G
c.1206T>G (p.Phe402Leu)
c.1185T>G (p.Phe395Leu)
c.1221T>G (p.Phe407Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285433T=CA1239745822HADHBc.1251T= (p.Phe417=)
c.882T= (p.Phe294=)
n.2198T=
c.1206T= (p.Phe402=)
c.1185T= (p.Phe395=)
c.1221T= (p.Phe407=)
2g.26285434A>CCA346096264HADHBc.1252A>C (p.Asn418His)
c.883A>C (p.Asn295His)
n.2199A>C
c.1207A>C (p.Asn403His)
c.1186A>C (p.Asn396His)
c.1222A>C (p.Asn408His)
2g.26285434A>GCA346096266HADHBc.1252A>G (p.Asn418Asp)
c.883A>G (p.Asn295Asp)
n.2199A>G
c.1207A>G (p.Asn403Asp)
c.1186A>G (p.Asn396Asp)
c.1222A>G (p.Asn408Asp)
 ClinVar
2g.26285434A>TCA346096265HADHBc.1252A>T (p.Asn418Tyr)
c.883A>T (p.Asn295Tyr)
n.2199A>T
c.1207A>T (p.Asn403Tyr)
c.1186A>T (p.Asn396Tyr)
c.1222A>T (p.Asn408Tyr)
2g.26285435A>CCA346096267HADHBc.1253A>C (p.Asn418Thr)
c.884A>C (p.Asn295Thr)
n.2200A>C
c.1208A>C (p.Asn403Thr)
c.1187A>C (p.Asn396Thr)
c.1223A>C (p.Asn408Thr)
2g.26285435A>GCA346096268HADHBc.1253A>G (p.Asn418Ser)
c.884A>G (p.Asn295Ser)
n.2200A>G
c.1208A>G (p.Asn403Ser)
c.1187A>G (p.Asn396Ser)
c.1223A>G (p.Asn408Ser)
2g.26285435A>TCA346096269HADHBc.1253A>T (p.Asn418Ile)
c.884A>T (p.Asn295Ile)
n.2200A>T
c.1208A>T (p.Asn403Ile)
c.1187A>T (p.Asn396Ile)
c.1223A>T (p.Asn408Ile)
2g.26285436T>ACA346096270HADHBc.1254T>A (p.Asn418Lys)
c.885T>A (p.Asn295Lys)
n.2201T>A
c.1209T>A (p.Asn403Lys)
c.1188T>A (p.Asn396Lys)
c.1224T>A (p.Asn408Lys)
2g.26285436T>CCA425201987HADHBc.1254T>C (p.Asn418=)
c.885T>C (p.Asn295=)
n.2201T>C
c.1209T>C (p.Asn403=)
c.1188T>C (p.Asn396=)
c.1224T>C (p.Asn408=)
 ClinVar
2g.26285436T>GCA346096271HADHBc.1254T>G (p.Asn418Lys)
c.885T>G (p.Asn295Lys)
n.2201T>G
c.1209T>G (p.Asn403Lys)
c.1188T>G (p.Asn396Lys)
c.1224T>G (p.Asn408Lys)
2g.26285437A>CCA346096272HADHBc.1255A>C (p.Asn419His)
c.886A>C (p.Asn296His)
n.2202A>C
c.1210A>C (p.Asn404His)
c.1189A>C (p.Asn397His)
c.1225A>C (p.Asn409His)
2g.26285437A>GCA346096273HADHBc.1255A>G (p.Asn419Asp)
c.886A>G (p.Asn296Asp)
n.2202A>G
c.1210A>G (p.Asn404Asp)
c.1189A>G (p.Asn397Asp)
c.1225A>G (p.Asn409Asp)
2g.26285437A>TCA346096274HADHBc.1255A>T (p.Asn419Tyr)
c.886A>T (p.Asn296Tyr)
n.2202A>T
c.1210A>T (p.Asn404Tyr)
c.1189A>T (p.Asn397Tyr)
c.1225A>T (p.Asn409Tyr)
2g.26285438A>CCA346096275HADHBc.1256A>C (p.Asn419Thr)
c.887A>C (p.Asn296Thr)
n.2203A>C
c.1211A>C (p.Asn404Thr)
c.1190A>C (p.Asn397Thr)
c.1226A>C (p.Asn409Thr)
2g.26285438A>GCA346096276HADHBc.1256A>G (p.Asn419Ser)
c.887A>G (p.Asn296Ser)
n.2203A>G
c.1211A>G (p.Asn404Ser)
c.1190A>G (p.Asn397Ser)
c.1226A>G (p.Asn409Ser)
2g.26285438A>TCA346096277HADHBc.1256A>T (p.Asn419Ile)
c.887A>T (p.Asn296Ile)
n.2203A>T
c.1211A>T (p.Asn404Ile)
c.1190A>T (p.Asn397Ile)
c.1226A>T (p.Asn409Ile)
2g.26285439C>ACA346096279HADHBc.1257C>A (p.Asn419Lys)
c.888C>A (p.Asn296Lys)
n.2204C>A
c.1212C>A (p.Asn404Lys)
c.1191C>A (p.Asn397Lys)
c.1227C>A (p.Asn409Lys)
2g.26285439C>GCA346096278HADHBc.1257C>G (p.Asn419Lys)
c.888C>G (p.Asn296Lys)
n.2204C>G
c.1212C>G (p.Asn404Lys)
c.1191C>G (p.Asn397Lys)
c.1227C>G (p.Asn409Lys)
2g.26285439C>TCA425201989HADHBc.1257C>T (p.Asn419=)
c.888C>T (p.Asn296=)
n.2204C>T
c.1212C>T (p.Asn404=)
c.1191C>T (p.Asn397=)
c.1227C>T (p.Asn409=)
2g.26285439_26285441delinsCTGCA1239745823HADHBc.1257_1259delinsCTG (p.Asn419=)
c.888_890delinsCTG (p.Asn296=)
n.2204_2206delinsCTG
c.1212_1214delinsCTG (p.Asn404=)
c.1191_1193delinsCTG (p.Asn397=)
c.1227_1229delinsCTG (p.Asn409=)
2g.26285440T>ACA346096280HADHBc.1258T>A (p.Trp420Arg)
c.889T>A (p.Trp297Arg)
n.2205T>A
c.1213T>A (p.Trp405Arg)
c.1192T>A (p.Trp398Arg)
c.1228T>A (p.Trp410Arg)
2g.26285440T>CCA346096281HADHBc.1258T>C (p.Trp420Arg)
c.889T>C (p.Trp297Arg)
n.2205T>C
c.1213T>C (p.Trp405Arg)
c.1192T>C (p.Trp398Arg)
c.1228T>C (p.Trp410Arg)
2g.26285440T>GCA346096282HADHBc.1258T>G (p.Trp420Gly)
c.889T>G (p.Trp297Gly)
n.2205T>G
c.1213T>G (p.Trp405Gly)
c.1192T>G (p.Trp398Gly)
c.1228T>G (p.Trp410Gly)
 ClinVar dbSNP
2g.26285440T=CA1239745824HADHBc.1258T= (p.Trp420=)
c.889T= (p.Trp297=)
n.2205T=
c.1213T= (p.Trp405=)
c.1192T= (p.Trp398=)
c.1228T= (p.Trp410=)
2g.26285440_26285441delCA1560504HADHBc.1258_1259del (p.Trp420GlyfsTer?)
c.889_890del (p.Trp297GlyfsTer?)
n.2205_2206del
c.1213_1214del (p.Trp405GlyfsTer?)
c.1192_1193del (p.Trp398GlyfsTer?)
c.1228_1229del (p.Trp410GlyfsTer?)
 dbSNP ExAC gnomAD v2
2g.26285441G>ACA346096284HADHBc.1259G>A (p.Trp420Ter)
c.890G>A (p.Trp297Ter)
n.2206G>A
c.1214G>A (p.Trp405Ter)
c.1193G>A (p.Trp398Ter)
c.1229G>A (p.Trp410Ter)
 gnomAD v4
2g.26285441G>CCA346096283HADHBc.1259G>C (p.Trp420Ser)
c.890G>C (p.Trp297Ser)
n.2206G>C
c.1214G>C (p.Trp405Ser)
c.1193G>C (p.Trp398Ser)
c.1229G>C (p.Trp410Ser)
2g.26285441G>TCA346096286HADHBc.1259G>T (p.Trp420Leu)
c.890G>T (p.Trp297Leu)
n.2206G>T
c.1214G>T (p.Trp405Leu)
c.1193G>T (p.Trp398Leu)
c.1229G>T (p.Trp410Leu)
2g.26285443_26285444delCA346096285HADHBc.1261_1262del (p.Gly421TrpfsTer?)
c.892_893del (p.Gly298TrpfsTer?)
n.2208_2209del
c.1216_1217del (p.Gly406TrpfsTer?)
c.1195_1196del (p.Gly399TrpfsTer?)
c.1231_1232del (p.Gly411TrpfsTer?)
2g.26285442G>ACA346096287HADHBc.1260G>A (p.Trp420Ter)
c.891G>A (p.Trp297Ter)
n.2207G>A
c.1215G>A (p.Trp405Ter)
c.1194G>A (p.Trp398Ter)
c.1230G>A (p.Trp410Ter)
2g.26285442G>CCA346096289HADHBc.1260G>C (p.Trp420Cys)
c.891G>C (p.Trp297Cys)
n.2207G>C
c.1215G>C (p.Trp405Cys)
c.1194G>C (p.Trp398Cys)
c.1230G>C (p.Trp410Cys)
2g.26285442G>TCA346096288HADHBc.1260G>T (p.Trp420Cys)
c.891G>T (p.Trp297Cys)
n.2207G>T
c.1215G>T (p.Trp405Cys)
c.1194G>T (p.Trp398Cys)
c.1230G>T (p.Trp410Cys)
2g.26285443G>ACA346096732HADHBc.1261G>A (p.Gly421Ser)
c.892G>A (p.Gly298Ser)
n.2208G>A
c.1216G>A (p.Gly406Ser)
c.1195G>A (p.Gly399Ser)
c.1231G>A (p.Gly411Ser)
2g.26285443G>CCA346096733HADHBc.1261G>C (p.Gly421Arg)
c.892G>C (p.Gly298Arg)
n.2208G>C
c.1216G>C (p.Gly406Arg)
c.1195G>C (p.Gly399Arg)
c.1231G>C (p.Gly411Arg)
2g.26285443G>TCA346096734HADHBc.1261G>T (p.Gly421Cys)
c.892G>T (p.Gly298Cys)
n.2208G>T
c.1216G>T (p.Gly406Cys)
c.1195G>T (p.Gly399Cys)
c.1231G>T (p.Gly411Cys)
2g.26285444G>ACA346096735HADHBc.1262G>A (p.Gly421Asp)
c.893G>A (p.Gly298Asp)
n.2209G>A
c.1217G>A (p.Gly406Asp)
c.1196G>A (p.Gly399Asp)
c.1232G>A (p.Gly411Asp)
2g.26285444G>CCA346096736HADHBc.1262G>C (p.Gly421Ala)
c.893G>C (p.Gly298Ala)
n.2209G>C
c.1217G>C (p.Gly406Ala)
c.1196G>C (p.Gly399Ala)
c.1232G>C (p.Gly411Ala)
2g.26285444G>TCA346096737HADHBc.1262G>T (p.Gly421Val)
c.893G>T (p.Gly298Val)
n.2209G>T
c.1217G>T (p.Gly406Val)
c.1196G>T (p.Gly399Val)
c.1232G>T (p.Gly411Val)
2g.26285445T>ACA425202016HADHBc.1263T>A (p.Gly421=)
c.894T>A (p.Gly298=)
n.2210T>A
c.1218T>A (p.Gly406=)
c.1197T>A (p.Gly399=)
c.1233T>A (p.Gly411=)
2g.26285445T>CCA425202018HADHBc.1263T>C (p.Gly421=)
c.894T>C (p.Gly298=)
n.2210T>C
c.1218T>C (p.Gly406=)
c.1197T>C (p.Gly399=)
c.1233T>C (p.Gly411=)
2g.26285445T>GCA425202021HADHBc.1263T>G (p.Gly421=)
c.894T>G (p.Gly298=)
n.2210T>G
c.1218T>G (p.Gly406=)
c.1197T>G (p.Gly399=)
c.1233T>G (p.Gly411=)
2g.26285446G>ACA346096738HADHBc.1264G>A (p.Gly422Arg)
c.895G>A (p.Gly299Arg)
n.2211G>A
c.1219G>A (p.Gly407Arg)
c.1198G>A (p.Gly400Arg)
c.1234G>A (p.Gly412Arg)
2g.26285446G>CCA346096739HADHBc.1264G>C (p.Gly422Arg)
c.895G>C (p.Gly299Arg)
n.2211G>C
c.1219G>C (p.Gly407Arg)
c.1198G>C (p.Gly400Arg)
c.1234G>C (p.Gly412Arg)
2g.26285446G>TCA346096740HADHBc.1264G>T (p.Gly422Ter)
c.895G>T (p.Gly299Ter)
n.2211G>T
c.1219G>T (p.Gly407Ter)
c.1198G>T (p.Gly400Ter)
c.1234G>T (p.Gly412Ter)
2g.26285447G>ACA346096741HADHBc.1265G>A (p.Gly422Glu)
c.896G>A (p.Gly299Glu)
n.2212G>A
c.1220G>A (p.Gly407Glu)
c.1199G>A (p.Gly400Glu)
c.1235G>A (p.Gly412Glu)
2g.26285447G>CCA346096742HADHBc.1265G>C (p.Gly422Ala)
c.896G>C (p.Gly299Ala)
n.2212G>C
c.1220G>C (p.Gly407Ala)
c.1199G>C (p.Gly400Ala)
c.1235G>C (p.Gly412Ala)
 gnomAD v4
2g.26285447G>TCA346096743HADHBc.1265G>T (p.Gly422Val)
c.896G>T (p.Gly299Val)
n.2212G>T
c.1220G>T (p.Gly407Val)
c.1199G>T (p.Gly400Val)
c.1235G>T (p.Gly412Val)
2g.26285448A>CCA425202023HADHBc.1266A>C (p.Gly422=)
c.897A>C (p.Gly299=)
n.2213A>C
c.1221A>C (p.Gly407=)
c.1200A>C (p.Gly400=)
c.1236A>C (p.Gly412=)
2g.26285448A>GCA425202024HADHBc.1266A>G (p.Gly422=)
c.897A>G (p.Gly299=)
n.2213A>G
c.1221A>G (p.Gly407=)
c.1200A>G (p.Gly400=)
c.1236A>G (p.Gly412=)
2g.26285448A>TCA425202025HADHBc.1266A>T (p.Gly422=)
c.897A>T (p.Gly299=)
n.2213A>T
c.1221A>T (p.Gly407=)
c.1200A>T (p.Gly400=)
c.1236A>T (p.Gly412=)
2g.26285449T>ACA346096744HADHBc.1267T>A (p.Ser423Thr)
c.898T>A (p.Ser300Thr)
n.2214T>A
c.1222T>A (p.Ser408Thr)
c.1201T>A (p.Ser401Thr)
c.1237T>A (p.Ser413Thr)
2g.26285449T>CCA346096746HADHBc.1267T>C (p.Ser423Pro)
c.898T>C (p.Ser300Pro)
n.2214T>C
c.1222T>C (p.Ser408Pro)
c.1201T>C (p.Ser401Pro)
c.1237T>C (p.Ser413Pro)
2g.26285449T>GCA346096745HADHBc.1267T>G (p.Ser423Ala)
c.898T>G (p.Ser300Ala)
n.2214T>G
c.1222T>G (p.Ser408Ala)
c.1201T>G (p.Ser401Ala)
c.1237T>G (p.Ser413Ala)
2g.26285450C>ACA346096747HADHBc.1268C>A (p.Ser423Tyr)
c.899C>A (p.Ser300Tyr)
n.2215C>A
c.1223C>A (p.Ser408Tyr)
c.1202C>A (p.Ser401Tyr)
c.1238C>A (p.Ser413Tyr)
2g.26285450C>GCA346096748HADHBc.1268C>G (p.Ser423Cys)
c.899C>G (p.Ser300Cys)
n.2215C>G
c.1223C>G (p.Ser408Cys)
c.1202C>G (p.Ser401Cys)
c.1238C>G (p.Ser413Cys)
2g.26285450C>TCA346096749HADHBc.1268C>T (p.Ser423Phe)
c.899C>T (p.Ser300Phe)
n.2215C>T
c.1223C>T (p.Ser408Phe)
c.1202C>T (p.Ser401Phe)
c.1238C>T (p.Ser413Phe)
2g.26285451T>ACA425202030HADHBc.1269T>A (p.Ser423=)
c.900T>A (p.Ser300=)
n.2216T>A
c.1224T>A (p.Ser408=)
c.1203T>A (p.Ser401=)
c.1239T>A (p.Ser413=)
2g.26285451T>CCA425202031HADHBc.1269T>C (p.Ser423=)
c.900T>C (p.Ser300=)
n.2216T>C
c.1224T>C (p.Ser408=)
c.1203T>C (p.Ser401=)
c.1239T>C (p.Ser413=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26285451T>GCA425202032HADHBc.1269T>G (p.Ser423=)
c.900T>G (p.Ser300=)
n.2216T>G
c.1224T>G (p.Ser408=)
c.1203T>G (p.Ser401=)
c.1239T>G (p.Ser413=)
2g.26285451T=CA1239745825HADHBc.1269T= (p.Ser423=)
c.900T= (p.Ser300=)
n.2216T=
c.1224T= (p.Ser408=)
c.1203T= (p.Ser401=)
c.1239T= (p.Ser413=)
2g.26285452C>ACA346096750HADHBc.1270C>A (p.Leu424Met)
c.901C>A (p.Leu301Met)
n.2217C>A
c.1225C>A (p.Leu409Met)
c.1204C>A (p.Leu402Met)
c.1240C>A (p.Leu414Met)
2g.26285452C=CA1239745826HADHBc.1270C= (p.Leu424=)
c.901C= (p.Leu301=)
n.2217C=
c.1225C= (p.Leu409=)
c.1204C= (p.Leu402=)
c.1240C= (p.Leu414=)
2g.26285452C>GCA346096751HADHBc.1270C>G (p.Leu424Val)
c.901C>G (p.Leu301Val)
n.2217C>G
c.1225C>G (p.Leu409Val)
c.1204C>G (p.Leu402Val)
c.1240C>G (p.Leu414Val)
 dbSNP
2g.26285452C>TCA425202036HADHBc.1270C>T (p.Leu424=)
c.901C>T (p.Leu301=)
n.2217C>T
c.1225C>T (p.Leu409=)
c.1204C>T (p.Leu402=)
c.1240C>T (p.Leu414=)
2g.26285453T>ACA346096752HADHBc.1271T>A (p.Leu424Gln)
c.902T>A (p.Leu301Gln)
n.2218T>A
c.1226T>A (p.Leu409Gln)
c.1205T>A (p.Leu402Gln)
c.1241T>A (p.Leu414Gln)
2g.26285453T>CCA346096753HADHBc.1271T>C (p.Leu424Pro)
c.902T>C (p.Leu301Pro)
n.2218T>C
c.1226T>C (p.Leu409Pro)
c.1205T>C (p.Leu402Pro)
c.1241T>C (p.Leu414Pro)
 gnomAD v4
2g.26285453T>GCA346096754HADHBc.1271T>G (p.Leu424Arg)
c.902T>G (p.Leu301Arg)
n.2218T>G
c.1226T>G (p.Leu409Arg)
c.1205T>G (p.Leu402Arg)
c.1241T>G (p.Leu414Arg)
2g.26285453_26285454delinsTGCA1239745827HADHBc.1271_1272delinsTG (p.Leu424=)
c.902_903delinsTG (p.Leu301=)
n.2218_2219delinsTG
c.1226_1227delinsTG (p.Leu409=)
c.1205_1206delinsTG (p.Leu402=)
c.1241_1242delinsTG (p.Leu414=)
2g.26285454delCA767291722HADHBc.1272del (p.Ser425ProfsTer?)
c.903del (p.Ser302ProfsTer?)
n.2219del
c.1227del (p.Ser410ProfsTer?)
c.1206del (p.Ser403ProfsTer?)
c.1242del (p.Ser415ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.26285454G>ACA425202037HADHBc.1272G>A (p.Leu424=)
c.903G>A (p.Leu301=)
n.2219G>A
c.1227G>A (p.Leu409=)
c.1206G>A (p.Leu402=)
c.1242G>A (p.Leu414=)
2g.26285454G>CCA425202039HADHBc.1272G>C (p.Leu424=)
c.903G>C (p.Leu301=)
n.2219G>C
c.1227G>C (p.Leu409=)
c.1206G>C (p.Leu402=)
c.1242G>C (p.Leu414=)
2g.26285454G>TCA425202041HADHBc.1272G>T (p.Leu424=)
c.903G>T (p.Leu301=)
n.2219G>T
c.1227G>T (p.Leu409=)
c.1206G>T (p.Leu402=)
c.1242G>T (p.Leu414=)
2g.26285455T>ACA346096757HADHBc.1273T>A (p.Ser425Thr)
c.904T>A (p.Ser302Thr)
n.2220T>A
c.1228T>A (p.Ser410Thr)
c.1207T>A (p.Ser403Thr)
c.1243T>A (p.Ser415Thr)
2g.26285455T>CCA346096756HADHBc.1273T>C (p.Ser425Pro)
c.904T>C (p.Ser302Pro)
n.2220T>C
c.1228T>C (p.Ser410Pro)
c.1207T>C (p.Ser403Pro)
c.1243T>C (p.Ser415Pro)
2g.26285455T>GCA346096755HADHBc.1273T>G (p.Ser425Ala)
c.904T>G (p.Ser302Ala)
n.2220T>G
c.1228T>G (p.Ser410Ala)
c.1207T>G (p.Ser403Ala)
c.1243T>G (p.Ser415Ala)
2g.26285456C>ACA346096758HADHBc.1274C>A (p.Ser425Tyr)
c.905C>A (p.Ser302Tyr)
n.2221C>A
c.1229C>A (p.Ser410Tyr)
c.1208C>A (p.Ser403Tyr)
c.1244C>A (p.Ser415Tyr)
2g.26285456C=CA1239745828HADHBc.1274C= (p.Ser425=)
c.905C= (p.Ser302=)
n.2221C=
c.1229C= (p.Ser410=)
c.1208C= (p.Ser403=)
c.1244C= (p.Ser415=)
2g.26285456C>GCA346096759HADHBc.1274C>G (p.Ser425Cys)
c.905C>G (p.Ser302Cys)
n.2221C>G
c.1229C>G (p.Ser410Cys)
c.1208C>G (p.Ser403Cys)
c.1244C>G (p.Ser415Cys)
2g.26285456C>TCA346096760HADHBc.1274C>T (p.Ser425Phe)
c.905C>T (p.Ser302Phe)
n.2221C>T
c.1229C>T (p.Ser410Phe)
c.1208C>T (p.Ser403Phe)
c.1244C>T (p.Ser415Phe)
 dbSNP gnomAD v2 COSMIC COSMIC
2g.26285457C>ACA425202044HADHBc.1275C>A (p.Ser425=)
c.906C>A (p.Ser302=)
n.2222C>A
c.1230C>A (p.Ser410=)
c.1209C>A (p.Ser403=)
c.1245C>A (p.Ser415=)
2g.26285457C>GCA425202045HADHBc.1275C>G (p.Ser425=)
c.906C>G (p.Ser302=)
n.2222C>G
c.1230C>G (p.Ser410=)
c.1209C>G (p.Ser403=)
c.1245C>G (p.Ser415=)
2g.26285457C>TCA425202047HADHBc.1275C>T (p.Ser425=)
c.906C>T (p.Ser302=)
n.2222C>T
c.1230C>T (p.Ser410=)
c.1209C>T (p.Ser403=)
c.1245C>T (p.Ser415=)
 gnomAD v4 COSMIC COSMIC
2g.26285458C>ACA346096761HADHBc.1276C>A (p.Leu426Met)
c.907C>A (p.Leu303Met)
n.2223C>A
c.1231C>A (p.Leu411Met)
c.1210C>A (p.Leu404Met)
c.1246C>A (p.Leu416Met)
2g.26285458C=CA1239745829HADHBc.1276C= (p.Leu426=)
c.907C= (p.Leu303=)
n.2223C=
c.1231C= (p.Leu411=)
c.1210C= (p.Leu404=)
c.1246C= (p.Leu416=)
2g.26285458C>GCA346096762HADHBc.1276C>G (p.Leu426Val)
c.907C>G (p.Leu303Val)
n.2223C>G
c.1231C>G (p.Leu411Val)
c.1210C>G (p.Leu404Val)
c.1246C>G (p.Leu416Val)
2g.26285458C>TCA425202051HADHBc.1276C>T (p.Leu426=)
c.907C>T (p.Leu303=)
n.2223C>T
c.1231C>T (p.Leu411=)
c.1210C>T (p.Leu404=)
c.1246C>T (p.Leu416=)
 dbSNP gnomAD v2 gnomAD v4
2g.26285459T>ACA346096763HADHBc.1277T>A (p.Leu426Gln)
c.908T>A (p.Leu303Gln)
n.2224T>A
c.1232T>A (p.Leu411Gln)
c.1211T>A (p.Leu404Gln)
c.1247T>A (p.Leu416Gln)
2g.26285459T>CCA346096764HADHBc.1277T>C (p.Leu426Pro)
c.908T>C (p.Leu303Pro)
n.2224T>C
c.1232T>C (p.Leu411Pro)
c.1211T>C (p.Leu404Pro)
c.1247T>C (p.Leu416Pro)
2g.26285459T>GCA346096765HADHBc.1277T>G (p.Leu426Arg)
c.908T>G (p.Leu303Arg)
n.2224T>G
c.1232T>G (p.Leu411Arg)
c.1211T>G (p.Leu404Arg)
c.1247T>G (p.Leu416Arg)
2g.26285459_26285460delinsTGCA1239745830HADHBc.1277_1278delinsTG (p.Leu426=)
c.908_909delinsTG (p.Leu303=)
n.2224_2225delinsTG
c.1232_1233delinsTG (p.Leu411=)
c.1211_1212delinsTG (p.Leu404=)
c.1247_1248delinsTG (p.Leu416=)
2g.26285460G>ACA425202054HADHBc.1278G>A (p.Leu426=)
c.909G>A (p.Leu303=)
n.2225G>A
c.1233G>A (p.Leu411=)
c.1212G>A (p.Leu404=)
c.1248G>A (p.Leu416=)
2g.26285460G>CCA425202055HADHBc.1278G>C (p.Leu426=)
c.909G>C (p.Leu303=)
n.2225G>C
c.1233G>C (p.Leu411=)
c.1212G>C (p.Leu404=)
c.1248G>C (p.Leu416=)
2g.26285460G>TCA425202056HADHBc.1278G>T (p.Leu426=)
c.909G>T (p.Leu303=)
n.2225G>T
c.1233G>T (p.Leu411=)
c.1212G>T (p.Leu404=)
c.1248G>T (p.Leu416=)
2g.26285462delCA1560505HADHBc.1280del (p.Gly427AspfsTer28)
c.911del (p.Gly304AspfsTer28)
n.2227del
c.1235del (p.Gly412AspfsTer28)
c.1214del (p.Gly405AspfsTer28)
c.1250del (p.Gly417AspfsTer28)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285461G>ACA346096766HADHBc.1279G>A (p.Gly427Arg)
c.910G>A (p.Gly304Arg)
n.2226G>A
c.1234G>A (p.Gly412Arg)
c.1213G>A (p.Gly405Arg)
c.1249G>A (p.Gly417Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26285461G>CCA346096767HADHBc.1279G>C (p.Gly427Arg)
c.910G>C (p.Gly304Arg)
n.2226G>C
c.1234G>C (p.Gly412Arg)
c.1213G>C (p.Gly405Arg)
c.1249G>C (p.Gly417Arg)
2g.26285461G=CA1239745831HADHBc.1279G= (p.Gly427=)
c.910G= (p.Gly304=)
n.2226G=
c.1234G= (p.Gly412=)
c.1213G= (p.Gly405=)
c.1249G= (p.Gly417=)
2g.26285461G>TCA346096768HADHBc.1279G>T (p.Gly427Ter)
c.910G>T (p.Gly304Ter)
n.2226G>T
c.1234G>T (p.Gly412Ter)
c.1213G>T (p.Gly405Ter)
c.1249G>T (p.Gly417Ter)
 ClinVar COSMIC
2g.26285462G>ACA220470HADHBc.1280G>A (p.Gly427Glu)
c.911G>A (p.Gly304Glu)
n.2227G>A
c.1235G>A (p.Gly412Glu)
c.1214G>A (p.Gly405Glu)
c.1250G>A (p.Gly417Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285462G>CCA346096769HADHBc.1280G>C (p.Gly427Ala)
c.911G>C (p.Gly304Ala)
n.2227G>C
c.1235G>C (p.Gly412Ala)
c.1214G>C (p.Gly405Ala)
c.1250G>C (p.Gly417Ala)
2g.26285462G=CA1239745832HADHBc.1280G= (p.Gly427=)
c.911G= (p.Gly304=)
n.2227G=
c.1235G= (p.Gly412=)
c.1214G= (p.Gly405=)
c.1250G= (p.Gly417=)
2g.26285462G>TCA346096770HADHBc.1280G>T (p.Gly427Val)
c.911G>T (p.Gly304Val)
n.2227G>T
c.1235G>T (p.Gly412Val)
c.1214G>T (p.Gly405Val)
c.1250G>T (p.Gly417Val)
2g.26285463A>CCA425202058HADHBc.1281A>C (p.Gly427=)
c.912A>C (p.Gly304=)
n.2228A>C
c.1236A>C (p.Gly412=)
c.1215A>C (p.Gly405=)
c.1251A>C (p.Gly417=)
2g.26285463A>GCA425202060HADHBc.1281A>G (p.Gly427=)
c.912A>G (p.Gly304=)
n.2228A>G
c.1236A>G (p.Gly412=)
c.1215A>G (p.Gly405=)
c.1251A>G (p.Gly417=)
2g.26285463A>TCA425202063HADHBc.1281A>T (p.Gly427=)
c.912A>T (p.Gly304=)
n.2228A>T
c.1236A>T (p.Gly412=)
c.1215A>T (p.Gly405=)
c.1251A>T (p.Gly417=)
2g.26285464C>ACA346096771HADHBc.1282C>A (p.His428Asn)
c.913C>A (p.His305Asn)
n.2229C>A
c.1237C>A (p.His413Asn)
c.1216C>A (p.His406Asn)
c.1252C>A (p.His418Asn)
2g.26285464C>GCA346096772HADHBc.1282C>G (p.His428Asp)
c.913C>G (p.His305Asp)
n.2229C>G
c.1237C>G (p.His413Asp)
c.1216C>G (p.His406Asp)
c.1252C>G (p.His418Asp)
2g.26285464C>TCA346096773HADHBc.1282C>T (p.His428Tyr)
c.913C>T (p.His305Tyr)
n.2229C>T
c.1237C>T (p.His413Tyr)
c.1216C>T (p.His406Tyr)
c.1252C>T (p.His418Tyr)
 gnomAD v4
2g.26285465A>CCA346096774HADHBc.1283A>C (p.His428Pro)
c.914A>C (p.His305Pro)
n.2230A>C
c.1238A>C (p.His413Pro)
c.1217A>C (p.His406Pro)
c.1253A>C (p.His418Pro)
2g.26285465A>GCA346096775HADHBc.1283A>G (p.His428Arg)
c.914A>G (p.His305Arg)
n.2230A>G
c.1238A>G (p.His413Arg)
c.1217A>G (p.His406Arg)
c.1253A>G (p.His418Arg)
2g.26285465A>TCA346096776HADHBc.1283A>T (p.His428Leu)
c.914A>T (p.His305Leu)
n.2230A>T
c.1238A>T (p.His413Leu)
c.1217A>T (p.His406Leu)
c.1253A>T (p.His418Leu)
 gnomAD v4
2g.26285466C>ACA346096777HADHBc.1284C>A (p.His428Gln)
c.915C>A (p.His305Gln)
n.2231C>A
c.1239C>A (p.His413Gln)
c.1218C>A (p.His406Gln)
c.1254C>A (p.His418Gln)
2g.26285466C>GCA346096778HADHBc.1284C>G (p.His428Gln)
c.915C>G (p.His305Gln)
n.2231C>G
c.1239C>G (p.His413Gln)
c.1218C>G (p.His406Gln)
c.1254C>G (p.His418Gln)
 gnomAD v4
2g.26285466C>TCA425202067HADHBc.1284C>T (p.His428=)
c.915C>T (p.His305=)
n.2231C>T
c.1239C>T (p.His413=)
c.1218C>T (p.His406=)
c.1254C>T (p.His418=)
 ClinVar
2g.26285467C>ACA346096779HADHBc.1285C>A (p.Pro429Thr)
c.916C>A (p.Pro306Thr)
n.2232C>A
c.1240C>A (p.Pro414Thr)
c.1219C>A (p.Pro407Thr)
c.1255C>A (p.Pro419Thr)
2g.26285467C>GCA346096780HADHBc.1285C>G (p.Pro429Ala)
c.916C>G (p.Pro306Ala)
n.2232C>G
c.1240C>G (p.Pro414Ala)
c.1219C>G (p.Pro407Ala)
c.1255C>G (p.Pro419Ala)
2g.26285467C>TCA346096781HADHBc.1285C>T (p.Pro429Ser)
c.916C>T (p.Pro306Ser)
n.2232C>T
c.1240C>T (p.Pro414Ser)
c.1219C>T (p.Pro407Ser)
c.1255C>T (p.Pro419Ser)
2g.26285468C>ACA346096783HADHBc.1286C>A (p.Pro429Gln)
c.917C>A (p.Pro306Gln)
n.2233C>A
c.1241C>A (p.Pro414Gln)
c.1220C>A (p.Pro407Gln)
c.1256C>A (p.Pro419Gln)
2g.26285468C>GCA346096784HADHBc.1286C>G (p.Pro429Arg)
c.917C>G (p.Pro306Arg)
n.2233C>G
c.1241C>G (p.Pro414Arg)
c.1220C>G (p.Pro407Arg)
c.1256C>G (p.Pro419Arg)
 gnomAD v4
2g.26285468C>TCA346096782HADHBc.1286C>T (p.Pro429Leu)
c.917C>T (p.Pro306Leu)
n.2233C>T
c.1241C>T (p.Pro414Leu)
c.1220C>T (p.Pro407Leu)
c.1256C>T (p.Pro419Leu)
2g.26285469A=CA1239745833HADHBc.1287A= (p.Pro429=)
c.918A= (p.Pro306=)
n.2234A=
c.1242A= (p.Pro414=)
c.1221A= (p.Pro407=)
c.1257A= (p.Pro419=)
2g.26285469A>CCA425202070HADHBc.1287A>C (p.Pro429=)
c.918A>C (p.Pro306=)
n.2234A>C
c.1242A>C (p.Pro414=)
c.1221A>C (p.Pro407=)
c.1257A>C (p.Pro419=)
2g.26285469A>GCA425202068HADHBc.1287A>G (p.Pro429=)
c.918A>G (p.Pro306=)
n.2234A>G
c.1242A>G (p.Pro414=)
c.1221A>G (p.Pro407=)
c.1257A>G (p.Pro419=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26285469A>TCA425202069HADHBc.1287A>T (p.Pro429=)
c.918A>T (p.Pro306=)
n.2234A>T
c.1242A>T (p.Pro414=)
c.1221A>T (p.Pro407=)
c.1257A>T (p.Pro419=)
2g.26285470T>ACA346096787HADHBc.1288T>A (p.Phe430Ile)
c.919T>A (p.Phe307Ile)
n.2235T>A
c.1243T>A (p.Phe415Ile)
c.1222T>A (p.Phe408Ile)
c.1258T>A (p.Phe420Ile)
2g.26285470T>CCA346096785HADHBc.1288T>C (p.Phe430Leu)
c.919T>C (p.Phe307Leu)
n.2235T>C
c.1243T>C (p.Phe415Leu)
c.1222T>C (p.Phe408Leu)
c.1258T>C (p.Phe420Leu)
2g.26285470T>GCA346096786HADHBc.1288T>G (p.Phe430Val)
c.919T>G (p.Phe307Val)
n.2235T>G
c.1243T>G (p.Phe415Val)
c.1222T>G (p.Phe408Val)
c.1258T>G (p.Phe420Val)
2g.26285472delCA2658218251HADHBc.1290del (p.Phe430LeufsTer25)
c.921del (p.Phe307LeufsTer25)
n.2237del
c.1245del (p.Phe415LeufsTer25)
c.1224del (p.Phe408LeufsTer25)
c.1260del (p.Phe420LeufsTer25)
 gnomAD v4
2g.26285471T>ACA346096788HADHBc.1289T>A (p.Phe430Tyr)
c.920T>A (p.Phe307Tyr)
n.2236T>A
c.1244T>A (p.Phe415Tyr)
c.1223T>A (p.Phe408Tyr)
c.1259T>A (p.Phe420Tyr)
2g.26285471T>CCA1560506HADHBc.1289T>C (p.Phe430Ser)
c.920T>C (p.Phe307Ser)
n.2236T>C
c.1244T>C (p.Phe415Ser)
c.1223T>C (p.Phe408Ser)
c.1259T>C (p.Phe420Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285471T>GCA346096789HADHBc.1289T>G (p.Phe430Cys)
c.920T>G (p.Phe307Cys)
n.2236T>G
c.1244T>G (p.Phe415Cys)
c.1223T>G (p.Phe408Cys)
c.1259T>G (p.Phe420Cys)
2g.26285471T=CA1239745834HADHBc.1289T= (p.Phe430=)
c.920T= (p.Phe307=)
n.2236T=
c.1244T= (p.Phe415=)
c.1223T= (p.Phe408=)
c.1259T= (p.Phe420=)
2g.26285472T>ACA346096790HADHBc.1290T>A (p.Phe430Leu)
c.921T>A (p.Phe307Leu)
n.2237T>A
c.1245T>A (p.Phe415Leu)
c.1224T>A (p.Phe408Leu)
c.1260T>A (p.Phe420Leu)
2g.26285472T>CCA425202072HADHBc.1290T>C (p.Phe430=)
c.921T>C (p.Phe307=)
n.2237T>C
c.1245T>C (p.Phe415=)
c.1224T>C (p.Phe408=)
c.1260T>C (p.Phe420=)
2g.26285472T>GCA346096791HADHBc.1290T>G (p.Phe430Leu)
c.921T>G (p.Phe307Leu)
n.2237T>G
c.1245T>G (p.Phe415Leu)
c.1224T>G (p.Phe408Leu)
c.1260T>G (p.Phe420Leu)
2g.26285473G>ACA346096792HADHBc.1291G>A (p.Gly431Arg)
c.922G>A (p.Gly308Arg)
n.2238G>A
c.1246G>A (p.Gly416Arg)
c.1225G>A (p.Gly409Arg)
c.1261G>A (p.Gly421Arg)
2g.26285473G>CCA346096793HADHBc.1291G>C (p.Gly431Arg)
c.922G>C (p.Gly308Arg)
n.2238G>C
c.1246G>C (p.Gly416Arg)
c.1225G>C (p.Gly409Arg)
c.1261G>C (p.Gly421Arg)
2g.26285473G>TCA346096794HADHBc.1291G>T (p.Gly431Ter)
c.922G>T (p.Gly308Ter)
n.2238G>T
c.1246G>T (p.Gly416Ter)
c.1225G>T (p.Gly409Ter)
c.1261G>T (p.Gly421Ter)
2g.26285474G>ACA346096795HADHBc.1292G>A (p.Gly431Glu)
c.923G>A (p.Gly308Glu)
n.2239G>A
c.1247G>A (p.Gly416Glu)
c.1226G>A (p.Gly409Glu)
c.1262G>A (p.Gly421Glu)
2g.26285474G>CCA346096796HADHBc.1292G>C (p.Gly431Ala)
c.923G>C (p.Gly308Ala)
n.2239G>C
c.1247G>C (p.Gly416Ala)
c.1226G>C (p.Gly409Ala)
c.1262G>C (p.Gly421Ala)
 gnomAD v4
2g.26285474G>TCA346096797HADHBc.1292G>T (p.Gly431Val)
c.923G>T (p.Gly308Val)
n.2239G>T
c.1247G>T (p.Gly416Val)
c.1226G>T (p.Gly409Val)
c.1262G>T (p.Gly421Val)
2g.26285475A>CCA425202079HADHBc.1293A>C (p.Gly431=)
c.924A>C (p.Gly308=)
n.2240A>C
c.1248A>C (p.Gly416=)
c.1227A>C (p.Gly409=)
c.1263A>C (p.Gly421=)
2g.26285475A>GCA425202083HADHBc.1293A>G (p.Gly431=)
c.924A>G (p.Gly308=)
n.2240A>G
c.1248A>G (p.Gly416=)
c.1227A>G (p.Gly409=)
c.1263A>G (p.Gly421=)
2g.26285475A>TCA425202081HADHBc.1293A>T (p.Gly431=)
c.924A>T (p.Gly308=)
n.2240A>T
c.1248A>T (p.Gly416=)
c.1227A>T (p.Gly409=)
c.1263A>T (p.Gly421=)
2g.26285476G>ACA346096798HADHBc.1294G>A (p.Ala432Thr)
c.925G>A (p.Ala309Thr)
n.2241G>A
c.1249G>A (p.Ala417Thr)
c.1228G>A (p.Ala410Thr)
c.1264G>A (p.Ala422Thr)
 dbSNP
2g.26285476G>CCA346096800HADHBc.1294G>C (p.Ala432Pro)
c.925G>C (p.Ala309Pro)
n.2241G>C
c.1249G>C (p.Ala417Pro)
c.1228G>C (p.Ala410Pro)
c.1264G>C (p.Ala422Pro)
 dbSNP
2g.26285476G=CA1239745835HADHBc.1294G= (p.Ala432=)
c.925G= (p.Ala309=)
n.2241G=
c.1249G= (p.Ala417=)
c.1228G= (p.Ala410=)
c.1264G= (p.Ala422=)
2g.26285476G>TCA346096799HADHBc.1294G>T (p.Ala432Ser)
c.925G>T (p.Ala309Ser)
n.2241G>T
c.1249G>T (p.Ala417Ser)
c.1228G>T (p.Ala410Ser)
c.1264G>T (p.Ala422Ser)
2g.26285477C>ACA346096801HADHBc.1295C>A (p.Ala432Asp)
c.926C>A (p.Ala309Asp)
n.2242C>A
c.1250C>A (p.Ala417Asp)
c.1229C>A (p.Ala410Asp)
c.1265C>A (p.Ala422Asp)
2g.26285477C=CA1239745836HADHBc.1295C= (p.Ala432=)
c.926C= (p.Ala309=)
n.2242C=
c.1250C= (p.Ala417=)
c.1229C= (p.Ala410=)
c.1265C= (p.Ala422=)
2g.26285477C>GCA346096802HADHBc.1295C>G (p.Ala432Gly)
c.926C>G (p.Ala309Gly)
n.2242C>G
c.1250C>G (p.Ala417Gly)
c.1229C>G (p.Ala410Gly)
c.1265C>G (p.Ala422Gly)
2g.26285477C>TCA1560507HADHBc.1295C>T (p.Ala432Val)
c.926C>T (p.Ala309Val)
n.2242C>T
c.1250C>T (p.Ala417Val)
c.1229C>T (p.Ala410Val)
c.1265C>T (p.Ala422Val)
 dbSNP ExAC gnomAD v2
2g.26285478C>ACA425202085HADHBc.1296C>A (p.Ala432=)
c.927C>A (p.Ala309=)
n.2243C>A
c.1251C>A (p.Ala417=)
c.1230C>A (p.Ala410=)
c.1266C>A (p.Ala422=)
2g.26285478C=CA1239745837HADHBc.1296C= (p.Ala432=)
c.927C= (p.Ala309=)
n.2243C=
c.1251C= (p.Ala417=)
c.1230C= (p.Ala410=)
c.1266C= (p.Ala422=)
2g.26285478C>GCA425202086HADHBc.1296C>G (p.Ala432=)
c.927C>G (p.Ala309=)
n.2243C>G
c.1251C>G (p.Ala417=)
c.1230C>G (p.Ala410=)
c.1266C>G (p.Ala422=)
2g.26285478C>TCA44342849HADHBc.1296C>T (p.Ala432=)
c.927C>T (p.Ala309=)
n.2243C>T
c.1251C>T (p.Ala417=)
c.1230C>T (p.Ala410=)
c.1266C>T (p.Ala422=)
 ClinVar dbSNP gnomAD v4
2g.26285479A>CCA346096803HADHBc.1297A>C (p.Thr433Pro)
c.928A>C (p.Thr310Pro)
n.2244A>C
c.1252A>C (p.Thr418Pro)
c.1231A>C (p.Thr411Pro)
c.1267A>C (p.Thr423Pro)
2g.26285479A>GCA346096804HADHBc.1297A>G (p.Thr433Ala)
c.928A>G (p.Thr310Ala)
n.2244A>G
c.1252A>G (p.Thr418Ala)
c.1231A>G (p.Thr411Ala)
c.1267A>G (p.Thr423Ala)
2g.26285479A>TCA346096805HADHBc.1297A>T (p.Thr433Ser)
c.928A>T (p.Thr310Ser)
n.2244A>T
c.1252A>T (p.Thr418Ser)
c.1231A>T (p.Thr411Ser)
c.1267A>T (p.Thr423Ser)
2g.26285480delCA2658218252HADHBc.1298del (p.Thr433MetfsTer22)
c.929del (p.Thr310MetfsTer22)
n.2245del
c.1253del (p.Thr418MetfsTer22)
c.1232del (p.Thr411MetfsTer22)
c.1268del (p.Thr423MetfsTer22)
 gnomAD v4
2g.26285480C>ACA346096806HADHBc.1298C>A (p.Thr433Asn)
c.929C>A (p.Thr310Asn)
n.2245C>A
c.1253C>A (p.Thr418Asn)
c.1232C>A (p.Thr411Asn)
c.1268C>A (p.Thr423Asn)
2g.26285480C=CA1239745838HADHBc.1298C= (p.Thr433=)
c.929C= (p.Thr310=)
n.2245C=
c.1253C= (p.Thr418=)
c.1232C= (p.Thr411=)
c.1268C= (p.Thr423=)
2g.26285480C>GCA346096807HADHBc.1298C>G (p.Thr433Ser)
c.929C>G (p.Thr310Ser)
n.2245C>G
c.1253C>G (p.Thr418Ser)
c.1232C>G (p.Thr411Ser)
c.1268C>G (p.Thr423Ser)
 gnomAD v4
2g.26285480C>TCA1560508HADHBc.1298C>T (p.Thr433Ile)
c.929C>T (p.Thr310Ile)
n.2245C>T
c.1253C>T (p.Thr418Ile)
c.1232C>T (p.Thr411Ile)
c.1268C>T (p.Thr423Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285481T>ACA425202089HADHBc.1299T>A (p.Thr433=)
c.930T>A (p.Thr310=)
n.2246T>A
c.1254T>A (p.Thr418=)
c.1233T>A (p.Thr411=)
c.1269T>A (p.Thr423=)
2g.26285481T>CCA425202090HADHBc.1299T>C (p.Thr433=)
c.930T>C (p.Thr310=)
n.2246T>C
c.1254T>C (p.Thr418=)
c.1233T>C (p.Thr411=)
c.1269T>C (p.Thr423=)
2g.26285481T>GCA425202091HADHBc.1299T>G (p.Thr433=)
c.930T>G (p.Thr310=)
n.2246T>G
c.1254T>G (p.Thr418=)
c.1233T>G (p.Thr411=)
c.1269T>G (p.Thr423=)
2g.26285482G>ACA346096809HADHBc.1300G>A (p.Gly434Ser)
c.931G>A (p.Gly311Ser)
n.2247G>A
c.1255G>A (p.Gly419Ser)
c.1234G>A (p.Gly412Ser)
c.1270G>A (p.Gly424Ser)
2g.26285482G>CCA346096810HADHBc.1300G>C (p.Gly434Arg)
c.931G>C (p.Gly311Arg)
n.2247G>C
c.1255G>C (p.Gly419Arg)
c.1234G>C (p.Gly412Arg)
c.1270G>C (p.Gly424Arg)
2g.26285482G>TCA346096808HADHBc.1300G>T (p.Gly434Cys)
c.931G>T (p.Gly311Cys)
n.2247G>T
c.1255G>T (p.Gly419Cys)
c.1234G>T (p.Gly412Cys)
c.1270G>T (p.Gly424Cys)
2g.26285483G>ACA346096811HADHBc.1301G>A (p.Gly434Asp)
c.932G>A (p.Gly311Asp)
n.2248G>A
c.1256G>A (p.Gly419Asp)
c.1235G>A (p.Gly412Asp)
c.1271G>A (p.Gly424Asp)
2g.26285483G>CCA346096812HADHBc.1301G>C (p.Gly434Ala)
c.932G>C (p.Gly311Ala)
n.2248G>C
c.1256G>C (p.Gly419Ala)
c.1235G>C (p.Gly412Ala)
c.1271G>C (p.Gly424Ala)
2g.26285483G=CA1239745839HADHBc.1301G= (p.Gly434=)
c.932G= (p.Gly311=)
n.2248G=
c.1256G= (p.Gly419=)
c.1235G= (p.Gly412=)
c.1271G= (p.Gly424=)
2g.26285483G>TCA1560509HADHBc.1301G>T (p.Gly434Val)
c.932G>T (p.Gly311Val)
n.2248G>T
c.1256G>T (p.Gly419Val)
c.1235G>T (p.Gly412Val)
c.1271G>T (p.Gly424Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285484C>ACA425202096HADHBc.1302C>A (p.Gly434=)
c.933C>A (p.Gly311=)
n.2249C>A
c.1257C>A (p.Gly419=)
c.1236C>A (p.Gly412=)
c.1272C>A (p.Gly424=)
2g.26285484C=CA1239745840HADHBc.1302C= (p.Gly434=)
c.933C= (p.Gly311=)
n.2249C=
c.1257C= (p.Gly419=)
c.1236C= (p.Gly412=)
c.1272C= (p.Gly424=)
2g.26285484C>GCA425202097HADHBc.1302C>G (p.Gly434=)
c.933C>G (p.Gly311=)
n.2249C>G
c.1257C>G (p.Gly419=)
c.1236C>G (p.Gly412=)
c.1272C>G (p.Gly424=)
2g.26285484C>TCA1560510HADHBc.1302C>T (p.Gly434=)
c.933C>T (p.Gly311=)
n.2249C>T
c.1257C>T (p.Gly419=)
c.1236C>T (p.Gly412=)
c.1272C>T (p.Gly424=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285485T>ACA346096813HADHBc.1303T>A (p.Cys435Ser)
c.934T>A (p.Cys312Ser)
n.2250T>A
c.1258T>A (p.Cys420Ser)
c.1237T>A (p.Cys413Ser)
c.1273T>A (p.Cys425Ser)
2g.26285485T>CCA346096814HADHBc.1303T>C (p.Cys435Arg)
c.934T>C (p.Cys312Arg)
n.2250T>C
c.1258T>C (p.Cys420Arg)
c.1237T>C (p.Cys413Arg)
c.1273T>C (p.Cys425Arg)
2g.26285485T>GCA346096815HADHBc.1303T>G (p.Cys435Gly)
c.934T>G (p.Cys312Gly)
n.2250T>G
c.1258T>G (p.Cys420Gly)
c.1237T>G (p.Cys413Gly)
c.1273T>G (p.Cys425Gly)
2g.26285486G>ACA346096816HADHBc.1304G>A (p.Cys435Tyr)
c.935G>A (p.Cys312Tyr)
n.2251G>A
c.1259G>A (p.Cys420Tyr)
c.1238G>A (p.Cys413Tyr)
c.1274G>A (p.Cys425Tyr)
 gnomAD v4
2g.26285486G>CCA346096818HADHBc.1304G>C (p.Cys435Ser)
c.935G>C (p.Cys312Ser)
n.2251G>C
c.1259G>C (p.Cys420Ser)
c.1238G>C (p.Cys413Ser)
c.1274G>C (p.Cys425Ser)
2g.26285486G>TCA346096817HADHBc.1304G>T (p.Cys435Phe)
c.935G>T (p.Cys312Phe)
n.2251G>T
c.1259G>T (p.Cys420Phe)
c.1238G>T (p.Cys413Phe)
c.1274G>T (p.Cys425Phe)
2g.26285487C>ACA346096819HADHBc.1305C>A (p.Cys435Ter)
c.936C>A (p.Cys312Ter)
n.2252C>A
c.1260C>A (p.Cys420Ter)
c.1239C>A (p.Cys413Ter)
c.1275C>A (p.Cys425Ter)
2g.26285487C>GCA346096820HADHBc.1305C>G (p.Cys435Trp)
c.936C>G (p.Cys312Trp)
n.2252C>G
c.1260C>G (p.Cys420Trp)
c.1239C>G (p.Cys413Trp)
c.1275C>G (p.Cys425Trp)
2g.26285487C>TCA425202101HADHBc.1305C>T (p.Cys435=)
c.936C>T (p.Cys312=)
n.2252C>T
c.1260C>T (p.Cys420=)
c.1239C>T (p.Cys413=)
c.1275C>T (p.Cys425=)
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.26285488A>CCA425202102HADHBc.1306A>C (p.Arg436=)
c.937A>C (p.Arg313=)
n.2253A>C
c.1261A>C (p.Arg421=)
c.1240A>C (p.Arg414=)
c.1276A>C (p.Arg426=)
2g.26285488A>GCA346096821HADHBc.1306A>G (p.Arg436Gly)
c.937A>G (p.Arg313Gly)
n.2253A>G
c.1261A>G (p.Arg421Gly)
c.1240A>G (p.Arg414Gly)
c.1276A>G (p.Arg426Gly)
 gnomAD v4
2g.26285488A>TCA346096822HADHBc.1306A>T (p.Arg436Trp)
c.937A>T (p.Arg313Trp)
n.2253A>T
c.1261A>T (p.Arg421Trp)
c.1240A>T (p.Arg414Trp)
c.1276A>T (p.Arg426Trp)
2g.26285489G>ACA346096823HADHBc.1307G>A (p.Arg436Lys)
c.938G>A (p.Arg313Lys)
n.2254G>A
c.1262G>A (p.Arg421Lys)
c.1241G>A (p.Arg414Lys)
c.1277G>A (p.Arg426Lys)
 gnomAD v4
2g.26285489G>CCA346096825HADHBc.1307G>C (p.Arg436Thr)
c.938G>C (p.Arg313Thr)
n.2254G>C
c.1262G>C (p.Arg421Thr)
c.1241G>C (p.Arg414Thr)
c.1277G>C (p.Arg426Thr)
2g.26285489G>TCA346096824HADHBc.1307G>T (p.Arg436Met)
c.938G>T (p.Arg313Met)
n.2254G>T
c.1262G>T (p.Arg421Met)
c.1241G>T (p.Arg414Met)
c.1277G>T (p.Arg426Met)
2g.26285490G>ACA425202108HADHBc.1308G>A (p.Arg436=)
c.939G>A (p.Arg313=)
n.2255G>A
c.1263G>A (p.Arg421=)
c.1242G>A (p.Arg414=)
c.1278G>A (p.Arg426=)
2g.26285490G>CCA346096826HADHBc.1308G>C (p.Arg436Ser)
c.939G>C (p.Arg313Ser)
n.2255G>C
c.1263G>C (p.Arg421Ser)
c.1242G>C (p.Arg414Ser)
c.1278G>C (p.Arg426Ser)
2g.26285490G>TCA346096827HADHBc.1308G>T (p.Arg436Ser)
c.939G>T (p.Arg313Ser)
n.2255G>T
c.1263G>T (p.Arg421Ser)
c.1242G>T (p.Arg414Ser)
c.1278G>T (p.Arg426Ser)
2g.26285491T>ACA346096828HADHBc.1309T>A (p.Leu437Met)
c.940T>A (p.Leu314Met)
n.2256T>A
c.1264T>A (p.Leu422Met)
c.1243T>A (p.Leu415Met)
c.1279T>A (p.Leu427Met)
2g.26285491T>CCA425202113HADHBc.1309T>C (p.Leu437=)
c.940T>C (p.Leu314=)
n.2256T>C
c.1264T>C (p.Leu422=)
c.1243T>C (p.Leu415=)
c.1279T>C (p.Leu427=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26285491T>GCA346096829HADHBc.1309T>G (p.Leu437Val)
c.940T>G (p.Leu314Val)
n.2256T>G
c.1264T>G (p.Leu422Val)
c.1243T>G (p.Leu415Val)
c.1279T>G (p.Leu427Val)
 dbSNP
2g.26285491T=CA1239745841HADHBc.1309T= (p.Leu437=)
c.940T= (p.Leu314=)
n.2256T=
c.1264T= (p.Leu422=)
c.1243T= (p.Leu415=)
c.1279T= (p.Leu427=)
2g.26285492T>ACA346096830HADHBc.1310T>A (p.Leu437Ter)
c.941T>A (p.Leu314Ter)
n.2257T>A
c.1265T>A (p.Leu422Ter)
c.1244T>A (p.Leu415Ter)
c.1280T>A (p.Leu427Ter)
2g.26285492T>CCA346096831HADHBc.1310T>C (p.Leu437Ser)
c.941T>C (p.Leu314Ser)
n.2257T>C
c.1265T>C (p.Leu422Ser)
c.1244T>C (p.Leu415Ser)
c.1280T>C (p.Leu427Ser)
2g.26285492T>GCA346096832HADHBc.1310T>G (p.Leu437Trp)
c.941T>G (p.Leu314Trp)
n.2257T>G
c.1265T>G (p.Leu422Trp)
c.1244T>G (p.Leu415Trp)
c.1280T>G (p.Leu427Trp)
2g.26285493G>ACA425202115HADHBc.1311G>A (p.Leu437=)
c.942G>A (p.Leu314=)
n.2258G>A
c.1266G>A (p.Leu422=)
c.1245G>A (p.Leu415=)
c.1281G>A (p.Leu427=)
2g.26285493G>CCA346096833HADHBc.1311G>C (p.Leu437Phe)
c.942G>C (p.Leu314Phe)
n.2258G>C
c.1266G>C (p.Leu422Phe)
c.1245G>C (p.Leu415Phe)
c.1281G>C (p.Leu427Phe)
2g.26285493G>TCA346096834HADHBc.1311G>T (p.Leu437Phe)
c.942G>T (p.Leu314Phe)
n.2258G>T
c.1266G>T (p.Leu422Phe)
c.1245G>T (p.Leu415Phe)
c.1281G>T (p.Leu427Phe)
2g.26285494G>ACA346096835HADHBc.1312G>A (p.Val438Ile)
c.943G>A (p.Val315Ile)
n.2259G>A
c.1267G>A (p.Val423Ile)
c.1246G>A (p.Val416Ile)
c.1282G>A (p.Val428Ile)
 gnomAD v4
2g.26285494G>CCA346096836HADHBc.1312G>C (p.Val438Leu)
c.943G>C (p.Val315Leu)
n.2259G>C
c.1267G>C (p.Val423Leu)
c.1246G>C (p.Val416Leu)
c.1282G>C (p.Val428Leu)
2g.26285494G=CA1239745842HADHBc.1312G= (p.Val438=)
c.943G= (p.Val315=)
n.2259G=
c.1267G= (p.Val423=)
c.1246G= (p.Val416=)
c.1282G= (p.Val428=)
2g.26285494G>TCA1560511HADHBc.1312G>T (p.Val438Phe)
c.943G>T (p.Val315Phe)
n.2259G>T
c.1267G>T (p.Val423Phe)
c.1246G>T (p.Val416Phe)
c.1282G>T (p.Val428Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285495T>ACA346096838HADHBc.1313T>A (p.Val438Asp)
c.944T>A (p.Val315Asp)
n.2260T>A
c.1268T>A (p.Val423Asp)
c.1247T>A (p.Val416Asp)
c.1283T>A (p.Val428Asp)
2g.26285495T>CCA346096839HADHBc.1313T>C (p.Val438Ala)
c.944T>C (p.Val315Ala)
n.2260T>C
c.1268T>C (p.Val423Ala)
c.1247T>C (p.Val416Ala)
c.1283T>C (p.Val428Ala)
2g.26285495T>GCA346096837HADHBc.1313T>G (p.Val438Gly)
c.944T>G (p.Val315Gly)
n.2260T>G
c.1268T>G (p.Val423Gly)
c.1247T>G (p.Val416Gly)
c.1283T>G (p.Val428Gly)
2g.26285496C>ACA425202125HADHBc.1314C>A (p.Val438=)
c.945C>A (p.Val315=)
n.2261C>A
c.1269C>A (p.Val423=)
c.1248C>A (p.Val416=)
c.1284C>A (p.Val428=)
 gnomAD v4
2g.26285496C>GCA425202123HADHBc.1314C>G (p.Val438=)
c.945C>G (p.Val315=)
n.2261C>G
c.1269C>G (p.Val423=)
c.1248C>G (p.Val416=)
c.1284C>G (p.Val428=)
2g.26285496C>TCA425202122HADHBc.1314C>T (p.Val438=)
c.945C>T (p.Val315=)
n.2261C>T
c.1269C>T (p.Val423=)
c.1248C>T (p.Val416=)
c.1284C>T (p.Val428=)
2g.26285497A=CA1239745843HADHBc.1315A= (p.Met439=)
c.946A= (p.Met316=)
n.2262A=
c.1270A= (p.Met424=)
c.1249A= (p.Met417=)
c.1285A= (p.Met429=)
2g.26285497A>CCA346096841HADHBc.1315A>C (p.Met439Leu)
c.946A>C (p.Met316Leu)
n.2262A>C
c.1270A>C (p.Met424Leu)
c.1249A>C (p.Met417Leu)
c.1285A>C (p.Met429Leu)
2g.26285497A>GCA346096840HADHBc.1315A>G (p.Met439Val)
c.946A>G (p.Met316Val)
n.2262A>G
c.1270A>G (p.Met424Val)
c.1249A>G (p.Met417Val)
c.1285A>G (p.Met429Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26285497A>TCA346096842HADHBc.1315A>T (p.Met439Leu)
c.946A>T (p.Met316Leu)
n.2262A>T
c.1270A>T (p.Met424Leu)
c.1249A>T (p.Met417Leu)
c.1285A>T (p.Met429Leu)
2g.26285498T>ACA346096843HADHBc.1316T>A (p.Met439Lys)
c.947T>A (p.Met316Lys)
n.2263T>A
c.1271T>A (p.Met424Lys)
c.1250T>A (p.Met417Lys)
c.1286T>A (p.Met429Lys)
2g.26285498T>CCA346096844HADHBc.1316T>C (p.Met439Thr)
c.947T>C (p.Met316Thr)
n.2263T>C
c.1271T>C (p.Met424Thr)
c.1250T>C (p.Met417Thr)
c.1286T>C (p.Met429Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.26285498T>GCA346096845HADHBc.1316T>G (p.Met439Arg)
c.947T>G (p.Met316Arg)
n.2263T>G
c.1271T>G (p.Met424Arg)
c.1250T>G (p.Met417Arg)
c.1286T>G (p.Met429Arg)
2g.26285498T=CA1239745844HADHBc.1316T= (p.Met439=)
c.947T= (p.Met316=)
n.2263T=
c.1271T= (p.Met424=)
c.1250T= (p.Met417=)
c.1286T= (p.Met429=)
2g.26285499G>ACA346096846HADHBc.1317G>A (p.Met439Ile)
c.948G>A (p.Met316Ile)
n.2264G>A
c.1272G>A (p.Met424Ile)
c.1251G>A (p.Met417Ile)
c.1287G>A (p.Met429Ile)
2g.26285499G>CCA346096847HADHBc.1317G>C (p.Met439Ile)
c.948G>C (p.Met316Ile)
n.2264G>C
c.1272G>C (p.Met424Ile)
c.1251G>C (p.Met417Ile)
c.1287G>C (p.Met429Ile)
2g.26285499G>TCA346096848HADHBc.1317G>T (p.Met439Ile)
c.948G>T (p.Met316Ile)
n.2264G>T
c.1272G>T (p.Met424Ile)
c.1251G>T (p.Met417Ile)
c.1287G>T (p.Met429Ile)
2g.26285500G>ACA346096849HADHBc.1318G>A (p.Ala440Thr)
c.949G>A (p.Ala317Thr)
n.2265G>A
c.1273G>A (p.Ala425Thr)
c.1252G>A (p.Ala418Thr)
c.1288G>A (p.Ala430Thr)
2g.26285500G>CCA346096850HADHBc.1318G>C (p.Ala440Pro)
c.949G>C (p.Ala317Pro)
n.2265G>C
c.1273G>C (p.Ala425Pro)
c.1252G>C (p.Ala418Pro)
c.1288G>C (p.Ala430Pro)
2g.26285500G>TCA346096851HADHBc.1318G>T (p.Ala440Ser)
c.949G>T (p.Ala317Ser)
n.2265G>T
c.1273G>T (p.Ala425Ser)
c.1252G>T (p.Ala418Ser)
c.1288G>T (p.Ala430Ser)
2g.26285501C>ACA346096852HADHBc.1319C>A (p.Ala440Asp)
c.950C>A (p.Ala317Asp)
n.2266C>A
c.1274C>A (p.Ala425Asp)
c.1253C>A (p.Ala418Asp)
c.1289C>A (p.Ala430Asp)
2g.26285501C=CA1239745845HADHBc.1319C= (p.Ala440=)
c.950C= (p.Ala317=)
n.2266C=
c.1274C= (p.Ala425=)
c.1253C= (p.Ala418=)
c.1289C= (p.Ala430=)
2g.26285501C>GCA1560512HADHBc.1319C>G (p.Ala440Gly)
c.950C>G (p.Ala317Gly)
n.2266C>G
c.1274C>G (p.Ala425Gly)
c.1253C>G (p.Ala418Gly)
c.1289C>G (p.Ala430Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285501C>TCA346096853HADHBc.1319C>T (p.Ala440Val)
c.950C>T (p.Ala317Val)
n.2266C>T
c.1274C>T (p.Ala425Val)
c.1253C>T (p.Ala418Val)
c.1289C>T (p.Ala430Val)
2g.26285502T>ACA425202135HADHBc.1320T>A (p.Ala440=)
c.951T>A (p.Ala317=)
n.2267T>A
c.1275T>A (p.Ala425=)
c.1254T>A (p.Ala418=)
c.1290T>A (p.Ala430=)
 dbSNP
2g.26285502T>CCA425202137HADHBc.1320T>C (p.Ala440=)
c.951T>C (p.Ala317=)
n.2267T>C
c.1275T>C (p.Ala425=)
c.1254T>C (p.Ala418=)
c.1290T>C (p.Ala430=)
2g.26285502T>GCA425202136HADHBc.1320T>G (p.Ala440=)
c.951T>G (p.Ala317=)
n.2267T>G
c.1275T>G (p.Ala425=)
c.1254T>G (p.Ala418=)
c.1290T>G (p.Ala430=)
2g.26285502T=CA1239745846HADHBc.1320T= (p.Ala440=)
c.951T= (p.Ala317=)
n.2267T=
c.1275T= (p.Ala425=)
c.1254T= (p.Ala418=)
c.1290T= (p.Ala430=)
2g.26285503G>ACA1560513HADHBc.1321G>A (p.Ala441Thr)
c.952G>A (p.Ala318Thr)
n.2268G>A
c.1276G>A (p.Ala426Thr)
c.1255G>A (p.Ala419Thr)
c.1291G>A (p.Ala431Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285503G>CCA346096855HADHBc.1321G>C (p.Ala441Pro)
c.952G>C (p.Ala318Pro)
n.2268G>C
c.1276G>C (p.Ala426Pro)
c.1255G>C (p.Ala419Pro)
c.1291G>C (p.Ala431Pro)
2g.26285503G=CA1239745847HADHBc.1321G= (p.Ala441=)
c.952G= (p.Ala318=)
n.2268G=
c.1276G= (p.Ala426=)
c.1255G= (p.Ala419=)
c.1291G= (p.Ala431=)
2g.26285503G>TCA346096854HADHBc.1321G>T (p.Ala441Ser)
c.952G>T (p.Ala318Ser)
n.2268G>T
c.1276G>T (p.Ala426Ser)
c.1255G>T (p.Ala419Ser)
c.1291G>T (p.Ala431Ser)
2g.26285504C>ACA346096856HADHBc.1322C>A (p.Ala441Asp)
c.953C>A (p.Ala318Asp)
n.2269C>A
c.1277C>A (p.Ala426Asp)
c.1256C>A (p.Ala419Asp)
c.1292C>A (p.Ala431Asp)
2g.26285504C=CA1239745848HADHBc.1322C= (p.Ala441=)
c.953C= (p.Ala318=)
n.2269C=
c.1277C= (p.Ala426=)
c.1256C= (p.Ala419=)
c.1292C= (p.Ala431=)
2g.26285504C>GCA346096857HADHBc.1322C>G (p.Ala441Gly)
c.953C>G (p.Ala318Gly)
n.2269C>G
c.1277C>G (p.Ala426Gly)
c.1256C>G (p.Ala419Gly)
c.1292C>G (p.Ala431Gly)
 dbSNP
2g.26285504C>TCA346096858HADHBc.1322C>T (p.Ala441Val)
c.953C>T (p.Ala318Val)
n.2269C>T
c.1277C>T (p.Ala426Val)
c.1256C>T (p.Ala419Val)
c.1292C>T (p.Ala431Val)
2g.26285505T>ACA425202140HADHBc.1323T>A (p.Ala441=)
c.954T>A (p.Ala318=)
n.2270T>A
c.1278T>A (p.Ala426=)
c.1257T>A (p.Ala419=)
c.1293T>A (p.Ala431=)
2g.26285505T>CCA425202142HADHBc.1323T>C (p.Ala441=)
c.954T>C (p.Ala318=)
n.2270T>C
c.1278T>C (p.Ala426=)
c.1257T>C (p.Ala419=)
c.1293T>C (p.Ala431=)
2g.26285505T>GCA425202144HADHBc.1323T>G (p.Ala441=)
c.954T>G (p.Ala318=)
n.2270T>G
c.1278T>G (p.Ala426=)
c.1257T>G (p.Ala419=)
c.1293T>G (p.Ala431=)
2g.26285506G>ACA346096859HADHBc.1324G>A (p.Ala442Thr)
c.955G>A (p.Ala319Thr)
n.2271G>A
c.1279G>A (p.Ala427Thr)
c.1258G>A (p.Ala420Thr)
c.1294G>A (p.Ala432Thr)
2g.26285506G>CCA346096860HADHBc.1324G>C (p.Ala442Pro)
c.955G>C (p.Ala319Pro)
n.2271G>C
c.1279G>C (p.Ala427Pro)
c.1258G>C (p.Ala420Pro)
c.1294G>C (p.Ala432Pro)
2g.26285506G>TCA346096861HADHBc.1324G>T (p.Ala442Ser)
c.955G>T (p.Ala319Ser)
n.2271G>T
c.1279G>T (p.Ala427Ser)
c.1258G>T (p.Ala420Ser)
c.1294G>T (p.Ala432Ser)
2g.26285507C>ACA346096862HADHBc.1325C>A (p.Ala442Asp)
c.956C>A (p.Ala319Asp)
n.2272C>A
c.1280C>A (p.Ala427Asp)
c.1259C>A (p.Ala420Asp)
c.1295C>A (p.Ala432Asp)
2g.26285507C>GCA346096863HADHBc.1325C>G (p.Ala442Gly)
c.956C>G (p.Ala319Gly)
n.2272C>G
c.1280C>G (p.Ala427Gly)
c.1259C>G (p.Ala420Gly)
c.1295C>G (p.Ala432Gly)
2g.26285507C>TCA346096864HADHBc.1325C>T (p.Ala442Val)
c.956C>T (p.Ala319Val)
n.2272C>T
c.1280C>T (p.Ala427Val)
c.1259C>T (p.Ala420Val)
c.1295C>T (p.Ala432Val)
2g.26285508C>ACA425202147HADHBc.1326C>A (p.Ala442=)
c.957C>A (p.Ala319=)
n.2273C>A
c.1281C>A (p.Ala427=)
c.1260C>A (p.Ala420=)
c.1296C>A (p.Ala432=)
2g.26285508C>GCA425202149HADHBc.1326C>G (p.Ala442=)
c.957C>G (p.Ala319=)
n.2273C>G
c.1281C>G (p.Ala427=)
c.1260C>G (p.Ala420=)
c.1296C>G (p.Ala432=)
2g.26285508C>TCA425202148HADHBc.1326C>T (p.Ala442=)
c.957C>T (p.Ala319=)
n.2273C>T
c.1281C>T (p.Ala427=)
c.1260C>T (p.Ala420=)
c.1296C>T (p.Ala432=)
2g.26285509A>CCA346096865HADHBc.1327A>C (p.Asn443His)
c.958A>C (p.Asn320His)
n.2274A>C
c.1282A>C (p.Asn428His)
c.1261A>C (p.Asn421His)
c.1297A>C (p.Asn433His)
2g.26285509A>GCA346096866HADHBc.1327A>G (p.Asn443Asp)
c.958A>G (p.Asn320Asp)
n.2274A>G
c.1282A>G (p.Asn428Asp)
c.1261A>G (p.Asn421Asp)
c.1297A>G (p.Asn433Asp)
2g.26285509A>TCA346096867HADHBc.1327A>T (p.Asn443Tyr)
c.958A>T (p.Asn320Tyr)
n.2274A>T
c.1282A>T (p.Asn428Tyr)
c.1261A>T (p.Asn421Tyr)
c.1297A>T (p.Asn433Tyr)
2g.26285510A=CA1239745849HADHBc.1328A= (p.Asn443=)
c.959A= (p.Asn320=)
n.2275A=
c.1283A= (p.Asn428=)
c.1262A= (p.Asn421=)
c.1298A= (p.Asn433=)
2g.26285510A>CCA346096870HADHBc.1328A>C (p.Asn443Thr)
c.959A>C (p.Asn320Thr)
n.2275A>C
c.1283A>C (p.Asn428Thr)
c.1262A>C (p.Asn421Thr)
c.1298A>C (p.Asn433Thr)
2g.26285510A>GCA346096869HADHBc.1328A>G (p.Asn443Ser)
c.959A>G (p.Asn320Ser)
n.2275A>G
c.1283A>G (p.Asn428Ser)
c.1262A>G (p.Asn421Ser)
c.1298A>G (p.Asn433Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26285510A>TCA346096868HADHBc.1328A>T (p.Asn443Ile)
c.959A>T (p.Asn320Ile)
n.2275A>T
c.1283A>T (p.Asn428Ile)
c.1262A>T (p.Asn421Ile)
c.1298A>T (p.Asn433Ile)
2g.26285511C>ACA346096871HADHBc.1329C>A (p.Asn443Lys)
c.960C>A (p.Asn320Lys)
n.2276C>A
c.1284C>A (p.Asn428Lys)
c.1263C>A (p.Asn421Lys)
c.1299C>A (p.Asn433Lys)
2g.26285511C=CA1239745850HADHBc.1329C= (p.Asn443=)
c.960C= (p.Asn320=)
n.2276C=
c.1284C= (p.Asn428=)
c.1263C= (p.Asn421=)
c.1299C= (p.Asn433=)
2g.26285511C>GCA1560514HADHBc.1329C>G (p.Asn443Lys)
c.960C>G (p.Asn320Lys)
n.2276C>G
c.1284C>G (p.Asn428Lys)
c.1263C>G (p.Asn421Lys)
c.1299C>G (p.Asn433Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26285511C>TCA425202153HADHBc.1329C>T (p.Asn443=)
c.960C>T (p.Asn320=)
n.2276C>T
c.1284C>T (p.Asn428=)
c.1263C>T (p.Asn421=)
c.1299C>T (p.Asn433=)
2g.26285512A=CA1239745851HADHBc.1330A= (p.Arg444=)
c.961A= (p.Arg321=)
n.2277A=
c.1285A= (p.Arg429=)
c.1264A= (p.Arg422=)
c.1300A= (p.Arg434=)
2g.26285512A>CCA425202156HADHBc.1330A>C (p.Arg444=)
c.961A>C (p.Arg321=)
n.2277A>C
c.1285A>C (p.Arg429=)
c.1264A>C (p.Arg422=)
c.1300A>C (p.Arg434=)
2g.26285512A>GCA1560515HADHBc.1330A>G (p.Arg444Gly)
c.961A>G (p.Arg321Gly)
n.2277A>G
c.1285A>G (p.Arg429Gly)
c.1264A>G (p.Arg422Gly)
c.1300A>G (p.Arg434Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26285512A>TCA346096872HADHBc.1330A>T (p.Arg444Ter)
c.961A>T (p.Arg321Ter)
n.2277A>T
c.1285A>T (p.Arg429Ter)
c.1264A>T (p.Arg422Ter)
c.1300A>T (p.Arg434Ter)
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)

Number of alleles fetched