Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26285390G>A | CA1239745812 | HADHB | c.1225-17G>A (n.1225-17G>A) c.856-17G>A (n.856-17G>A) n.2172-17G>A c.1180-17G>A (n.1180-17G>A) c.1159-17G>A (n.1159-17G>A) c.1195-17G>A (n.1195-17G>A) | dbSNP gnomAD v4 |
2 | g.26285390G= | CA1239745811 | HADHB | c.1225-17G= (n.1225-17G=) c.856-17G= (n.856-17G=) n.2172-17G= c.1180-17G= (n.1180-17G=) c.1159-17G= (n.1159-17G=) c.1195-17G= (n.1195-17G=) | |
2 | g.26285392C>G | CA2580066170 | HADHB | c.1225-15C>G (n.1225-15C>G) c.856-15C>G (n.856-15C>G) n.2172-15C>G c.1180-15C>G (n.1180-15C>G) c.1159-15C>G (n.1159-15C>G) c.1195-15C>G (n.1195-15C>G) | ClinVar |
2 | g.26285392C>T | CA2576697590 | HADHB | c.1225-15C>T (n.1225-15C>T) c.856-15C>T (n.856-15C>T) n.2172-15C>T c.1180-15C>T (n.1180-15C>T) c.1159-15C>T (n.1159-15C>T) c.1195-15C>T (n.1195-15C>T) | gnomAD v4 |
2 | g.26285392_26285393delinsCT | CA1239745813 | HADHB | c.1225-15_1225-14delinsCT (n.1225-15_1225-14delinsCT) c.856-15_856-14delinsCT (n.856-15_856-14delinsCT) n.2172-15_2172-14delinsCT c.1180-15_1180-14delinsCT (n.1180-15_1180-14delinsCT) c.1159-15_1159-14delinsCT (n.1159-15_1159-14delinsCT) c.1195-15_1195-14delinsCT (n.1195-15_1195-14delinsCT) | |
2 | g.26285393T>C | CA767291684 | HADHB | c.1225-14T>C (n.1225-14T>C) c.856-14T>C (n.856-14T>C) n.2172-14T>C c.1180-14T>C (n.1180-14T>C) c.1159-14T>C (n.1159-14T>C) c.1195-14T>C (n.1195-14T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285393T= | CA1239745814 | HADHB | c.1225-14T= (n.1225-14T=) c.856-14T= (n.856-14T=) n.2172-14T= c.1180-14T= (n.1180-14T=) c.1159-14T= (n.1159-14T=) c.1195-14T= (n.1195-14T=) | |
2 | g.26285395dup | CA2658218243 | HADHB | c.1225-12dup (n.1225-12dup) c.856-12dup (n.856-12dup) n.2172-12dup c.1180-12dup (n.1180-12dup) c.1159-12dup (n.1159-12dup) c.1195-12dup (n.1195-12dup) | gnomAD v4 |
2 | g.26285395del | CA1560501 | HADHB | c.1225-12del (n.1225-12del) c.856-12del (n.856-12del) n.2172-12del c.1180-12del (n.1180-12del) c.1159-12del (n.1159-12del) c.1195-12del (n.1195-12del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26285396G>A | CA531395126 | HADHB | c.1225-11G>A (n.1225-11G>A) c.856-11G>A (n.856-11G>A) n.2172-11G>A c.1180-11G>A (n.1180-11G>A) c.1159-11G>A (n.1159-11G>A) c.1195-11G>A (n.1195-11G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285396G>C | CA2658218245 | HADHB | c.1225-11G>C (n.1225-11G>C) c.856-11G>C (n.856-11G>C) n.2172-11G>C c.1180-11G>C (n.1180-11G>C) c.1159-11G>C (n.1159-11G>C) c.1195-11G>C (n.1195-11G>C) | gnomAD v4 |
2 | g.26285396G= | CA1239745815 | HADHB | c.1225-11G= (n.1225-11G=) c.856-11G= (n.856-11G=) n.2172-11G= c.1180-11G= (n.1180-11G=) c.1159-11G= (n.1159-11G=) c.1195-11G= (n.1195-11G=) | |
2 | g.26285396G>T | CA531395125 | HADHB | c.1225-11G>T (n.1225-11G>T) c.856-11G>T (n.856-11G>T) n.2172-11G>T c.1180-11G>T (n.1180-11G>T) c.1159-11G>T (n.1159-11G>T) c.1195-11G>T (n.1195-11G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285400dup | CA2658218244 | HADHB | c.1225-7dup (n.1225-7dup) c.856-7dup (n.856-7dup) n.2172-7dup c.1180-7dup (n.1180-7dup) c.1159-7dup (n.1159-7dup) c.1195-7dup (n.1195-7dup) | gnomAD v4 |
2 | g.26285397G>C | CA2658218246 | HADHB | c.1225-10G>C (n.1225-10G>C) c.856-10G>C (n.856-10G>C) n.2172-10G>C c.1180-10G>C (n.1180-10G>C) c.1159-10G>C (n.1159-10G>C) c.1195-10G>C (n.1195-10G>C) | gnomAD v4 |
2 | g.26285397G>T | CA2658218247 | HADHB | c.1225-10G>T (n.1225-10G>T) c.856-10G>T (n.856-10G>T) n.2172-10G>T c.1180-10G>T (n.1180-10G>T) c.1159-10G>T (n.1159-10G>T) c.1195-10G>T (n.1195-10G>T) | gnomAD v4 |
2 | g.26285399G>A | CA531395127 | HADHB | c.1225-8G>A (n.1225-8G>A) c.856-8G>A (n.856-8G>A) n.2172-8G>A c.1180-8G>A (n.1180-8G>A) c.1159-8G>A (n.1159-8G>A) c.1195-8G>A (n.1195-8G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285399G= | CA1239745816 | HADHB | c.1225-8G= (n.1225-8G=) c.856-8G= (n.856-8G=) n.2172-8G= c.1180-8G= (n.1180-8G=) c.1159-8G= (n.1159-8G=) c.1195-8G= (n.1195-8G=) | |
2 | g.26285400G>T | CA2658218248 | HADHB | c.1225-7G>T (n.1225-7G>T) c.856-7G>T (n.856-7G>T) n.2172-7G>T c.1180-7G>T (n.1180-7G>T) c.1159-7G>T (n.1159-7G>T) c.1195-7G>T (n.1195-7G>T) | gnomAD v4 |
2 | g.26285401A>T | CA2739274159 | HADHB | c.1225-6A>T (n.1225-6A>T) c.856-6A>T (n.856-6A>T) n.2172-6A>T c.1180-6A>T (n.1180-6A>T) c.1159-6A>T (n.1159-6A>T) c.1195-6A>T (n.1195-6A>T) | ClinVar |
2 | g.26285402G>A | CA531395129 | HADHB | c.1225-5G>A (n.1225-5G>A) c.856-5G>A (n.856-5G>A) n.2172-5G>A c.1180-5G>A (n.1180-5G>A) c.1159-5G>A (n.1159-5G>A) c.1195-5G>A (n.1195-5G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26285402G= | CA1239745817 | HADHB | c.1225-5G= (n.1225-5G=) c.856-5G= (n.856-5G=) n.2172-5G= c.1180-5G= (n.1180-5G=) c.1159-5G= (n.1159-5G=) c.1195-5G= (n.1195-5G=) | |
2 | g.26285402G>T | CA2658218249 | HADHB | c.1225-5G>T (n.1225-5G>T) c.856-5G>T (n.856-5G>T) n.2172-5G>T c.1180-5G>T (n.1180-5G>T) c.1159-5G>T (n.1159-5G>T) c.1195-5G>T (n.1195-5G>T) | gnomAD v4 |
2 | g.26285405A>C | CA346096198 | HADHB | c.1225-2A>C (n.1225-2A>C) c.856-2A>C (n.856-2A>C) n.2172-2A>C c.1180-2A>C (n.1180-2A>C) c.1159-2A>C (n.1159-2A>C) c.1195-2A>C (n.1195-2A>C) | |
2 | g.26285405A>G | CA346096199 | HADHB | c.1225-2A>G (n.1225-2A>G) c.856-2A>G (n.856-2A>G) n.2172-2A>G c.1180-2A>G (n.1180-2A>G) c.1159-2A>G (n.1159-2A>G) c.1195-2A>G (n.1195-2A>G) | |
2 | g.26285405A>T | CA346096200 | HADHB | c.1225-2A>T (n.1225-2A>T) c.856-2A>T (n.856-2A>T) n.2172-2A>T c.1180-2A>T (n.1180-2A>T) c.1159-2A>T (n.1159-2A>T) c.1195-2A>T (n.1195-2A>T) | |
2 | g.26285406G>A | CA346096201 | HADHB | c.1225-1G>A (n.1225-1G>A) c.856-1G>A (n.856-1G>A) n.2172-1G>A c.1180-1G>A (n.1180-1G>A) c.1159-1G>A (n.1159-1G>A) c.1195-1G>A (n.1195-1G>A) | ClinVar gnomAD v4 |
2 | g.26285406G>C | CA346096202 | HADHB | c.1225-1G>C (n.1225-1G>C) c.856-1G>C (n.856-1G>C) n.2172-1G>C c.1180-1G>C (n.1180-1G>C) c.1159-1G>C (n.1159-1G>C) c.1195-1G>C (n.1195-1G>C) | |
2 | g.26285406G>T | CA346096203 | HADHB | c.1225-1G>T (n.1225-1G>T) c.856-1G>T (n.856-1G>T) n.2172-1G>T c.1180-1G>T (n.1180-1G>T) c.1159-1G>T (n.1159-1G>T) c.1195-1G>T (n.1195-1G>T) | |
2 | g.26285407G>A | CA346096204 | HADHB | c.1225G>A (p.Val409Ile) c.856G>A (p.Val286Ile) n.2172G>A c.1180G>A (p.Val394Ile) c.1159G>A (p.Val387Ile) c.1195G>A (p.Val399Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26285407G>C | CA346096206 | HADHB | c.1225G>C (p.Val409Leu) c.856G>C (p.Val286Leu) n.2172G>C c.1180G>C (p.Val394Leu) c.1159G>C (p.Val387Leu) c.1195G>C (p.Val399Leu) | |
2 | g.26285407G= | CA1239745818 | HADHB | c.1225G= (p.Val409=) c.856G= (p.Val286=) n.2172G= c.1180G= (p.Val394=) c.1159G= (p.Val387=) c.1195G= (p.Val399=) | |
2 | g.26285407G>T | CA346096205 | HADHB | c.1225G>T (p.Val409Phe) c.856G>T (p.Val286Phe) n.2172G>T c.1180G>T (p.Val394Phe) c.1159G>T (p.Val387Phe) c.1195G>T (p.Val399Phe) | |
2 | g.26285408T>A | CA346096207 | HADHB | c.1226T>A (p.Val409Asp) c.857T>A (p.Val286Asp) n.2173T>A c.1181T>A (p.Val394Asp) c.1160T>A (p.Val387Asp) c.1196T>A (p.Val399Asp) | |
2 | g.26285408T>C | CA346096208 | HADHB | c.1226T>C (p.Val409Ala) c.857T>C (p.Val286Ala) n.2173T>C c.1181T>C (p.Val394Ala) c.1160T>C (p.Val387Ala) c.1196T>C (p.Val399Ala) | ClinVar gnomAD v4 |
2 | g.26285408T>G | CA346096209 | HADHB | c.1226T>G (p.Val409Gly) c.857T>G (p.Val286Gly) n.2173T>G c.1181T>G (p.Val394Gly) c.1160T>G (p.Val387Gly) c.1196T>G (p.Val399Gly) | |
2 | g.26285409T>A | CA425201968 | HADHB | c.1227T>A (p.Val409=) c.858T>A (p.Val286=) n.2174T>A c.1182T>A (p.Val394=) c.1161T>A (p.Val387=) c.1197T>A (p.Val399=) | |
2 | g.26285409T>C | CA425201969 | HADHB | c.1227T>C (p.Val409=) c.858T>C (p.Val286=) n.2174T>C c.1182T>C (p.Val394=) c.1161T>C (p.Val387=) c.1197T>C (p.Val399=) | |
2 | g.26285409T>G | CA425201970 | HADHB | c.1227T>G (p.Val409=) c.858T>G (p.Val286=) n.2174T>G c.1182T>G (p.Val394=) c.1161T>G (p.Val387=) c.1197T>G (p.Val399=) | |
2 | g.26285410G>A | CA346096210 | HADHB | c.1228G>A (p.Gly410Arg) c.859G>A (p.Gly287Arg) n.2175G>A c.1183G>A (p.Gly395Arg) c.1162G>A (p.Gly388Arg) c.1198G>A (p.Gly400Arg) | |
2 | g.26285410G>C | CA346096211 | HADHB | c.1228G>C (p.Gly410Arg) c.859G>C (p.Gly287Arg) n.2175G>C c.1183G>C (p.Gly395Arg) c.1162G>C (p.Gly388Arg) c.1198G>C (p.Gly400Arg) | |
2 | g.26285410G>T | CA346096212 | HADHB | c.1228G>T (p.Gly410Ter) c.859G>T (p.Gly287Ter) n.2175G>T c.1183G>T (p.Gly395Ter) c.1162G>T (p.Gly388Ter) c.1198G>T (p.Gly400Ter) | |
2 | g.26285411G>A | CA346096213 | HADHB | c.1229G>A (p.Gly410Glu) c.860G>A (p.Gly287Glu) n.2176G>A c.1184G>A (p.Gly395Glu) c.1163G>A (p.Gly388Glu) c.1199G>A (p.Gly400Glu) | |
2 | g.26285411G>C | CA346096214 | HADHB | c.1229G>C (p.Gly410Ala) c.860G>C (p.Gly287Ala) n.2176G>C c.1184G>C (p.Gly395Ala) c.1163G>C (p.Gly388Ala) c.1199G>C (p.Gly400Ala) | |
2 | g.26285411G>T | CA346096215 | HADHB | c.1229G>T (p.Gly410Val) c.860G>T (p.Gly287Val) n.2176G>T c.1184G>T (p.Gly395Val) c.1163G>T (p.Gly388Val) c.1199G>T (p.Gly400Val) | gnomAD v4 |
2 | g.26285412A>C | CA425201971 | HADHB | c.1230A>C (p.Gly410=) c.861A>C (p.Gly287=) n.2177A>C c.1185A>C (p.Gly395=) c.1164A>C (p.Gly388=) c.1200A>C (p.Gly400=) | |
2 | g.26285412A>G | CA425201972 | HADHB | c.1230A>G (p.Gly410=) c.861A>G (p.Gly287=) n.2177A>G c.1185A>G (p.Gly395=) c.1164A>G (p.Gly388=) c.1200A>G (p.Gly400=) | |
2 | g.26285412A>T | CA425201973 | HADHB | c.1230A>T (p.Gly410=) c.861A>T (p.Gly287=) n.2177A>T c.1185A>T (p.Gly395=) c.1164A>T (p.Gly388=) c.1200A>T (p.Gly400=) | |
2 | g.26285413T>A | CA346096216 | HADHB | c.1231T>A (p.Leu411Met) c.862T>A (p.Leu288Met) n.2178T>A c.1186T>A (p.Leu396Met) c.1165T>A (p.Leu389Met) c.1201T>A (p.Leu401Met) | |
2 | g.26285413T>C | CA425201974 | HADHB | c.1231T>C (p.Leu411=) c.862T>C (p.Leu288=) n.2178T>C c.1186T>C (p.Leu396=) c.1165T>C (p.Leu389=) c.1201T>C (p.Leu401=) | |
2 | g.26285413T>G | CA346096217 | HADHB | c.1231T>G (p.Leu411Val) c.862T>G (p.Leu288Val) n.2178T>G c.1186T>G (p.Leu396Val) c.1165T>G (p.Leu389Val) c.1201T>G (p.Leu401Val) | |
2 | g.26285414T>A | CA346096218 | HADHB | c.1232T>A (p.Leu411Ter) c.863T>A (p.Leu288Ter) n.2179T>A c.1187T>A (p.Leu396Ter) c.1166T>A (p.Leu389Ter) c.1202T>A (p.Leu401Ter) | |
2 | g.26285414T>C | CA346096220 | HADHB | c.1232T>C (p.Leu411Ser) c.863T>C (p.Leu288Ser) n.2179T>C c.1187T>C (p.Leu396Ser) c.1166T>C (p.Leu389Ser) c.1202T>C (p.Leu401Ser) | |
2 | g.26285414T>G | CA346096219 | HADHB | c.1232T>G (p.Leu411Trp) c.863T>G (p.Leu288Trp) n.2179T>G c.1187T>G (p.Leu396Trp) c.1166T>G (p.Leu389Trp) c.1202T>G (p.Leu401Trp) | gnomAD v4 |
2 | g.26285415G>A | CA425201975 | HADHB | c.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=) | |
2 | g.26285415G>C | CA346096221 | HADHB | c.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) | |
2 | g.26285415G>T | CA346096222 | HADHB | c.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) | |
2 | g.26285416C>A | CA346096223 | HADHB | c.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) | |
2 | g.26285416C>G | CA346096224 | HADHB | c.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) | |
2 | g.26285416C>T | CA346096225 | HADHB | c.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) | |
2 | g.26285417C>A | CA346096226 | HADHB | c.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) | |
2 | g.26285417C= | CA1239745819 | HADHB | c.1235C= (p.Pro412=) c.866C= (p.Pro289=) n.2182C= c.1190C= (p.Pro397=) c.1169C= (p.Pro390=) c.1205C= (p.Pro402=) | |
2 | g.26285417C>G | CA346096227 | HADHB | c.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 |
2 | g.26285417C>T | CA1560502 | HADHB | c.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 |
2 | g.26285418T>A | CA425201976 | HADHB | c.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=) | |
2 | g.26285418T>C | CA425201978 | HADHB | c.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=) | |
2 | g.26285418T>G | CA425201977 | HADHB | c.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=) | |
2 | g.26285419C>A | CA346096228 | HADHB | c.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) | |
2 | g.26285419C= | CA1239745820 | HADHB | c.1237C= (p.Pro413=) c.868C= (p.Pro290=) n.2184C= c.1192C= (p.Pro398=) c.1171C= (p.Pro391=) c.1207C= (p.Pro403=) | |
2 | g.26285419C>G | CA346096229 | HADHB | c.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) | |
2 | g.26285419C>T | CA346096230 | HADHB | c.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 |
2 | g.26285420C>A | CA346096231 | HADHB | c.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) | |
2 | g.26285420C>G | CA346096232 | HADHB | c.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) | |
2 | g.26285420C>T | CA346096233 | HADHB | c.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 |
2 | g.26285421T>A | CA425201979 | HADHB | c.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=) | |
2 | g.26285421T>C | CA425201980 | HADHB | c.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=) | |
2 | g.26285421T>G | CA425201981 | HADHB | c.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=) | |
2 | g.26285423del | CA2658218250 | HADHB | c.1241del (p.Leu414TrpfsTer?) c.872del (p.Leu291TrpfsTer?) n.2188del c.1196del (p.Leu399TrpfsTer?) c.1175del (p.Leu392TrpfsTer?) c.1211del (p.Leu404TrpfsTer?) | gnomAD v4 |
2 | g.26285422T>A | CA346096235 | HADHB | c.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) | |
2 | g.26285422T>C | CA425201982 | HADHB | c.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=) | |
2 | g.26285422T>G | CA346096234 | HADHB | c.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) | |
2 | g.26285423T>A | CA346096236 | HADHB | c.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) | |
2 | g.26285423T>C | CA346096237 | HADHB | c.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) | |
2 | g.26285423T>G | CA346096238 | HADHB | c.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) | |
2 | g.26285424G>A | CA425201983 | HADHB | c.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=) | |
2 | g.26285424G>C | CA346096240 | HADHB | c.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) | |
2 | g.26285424G>T | CA346096241 | HADHB | c.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) | |
2 | g.26285425G>A | CA346096242 | HADHB | c.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 |
2 | g.26285425G>C | CA346096243 | HADHB | c.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) | |
2 | g.26285425G>T | CA346096244 | HADHB | c.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) | |
2 | g.26285426A= | CA1239745821 | HADHB | c.1244A= (p.Glu415=) c.875A= (p.Glu292=) n.2191A= c.1199A= (p.Glu400=) c.1178A= (p.Glu393=) c.1214A= (p.Glu405=) | |
2 | g.26285426A>C | CA346096245 | HADHB | c.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) | |
2 | g.26285426A>G | CA44342832 | HADHB | c.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 |
2 | g.26285426A>T | CA346096246 | HADHB | c.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) | |
2 | g.26285427G>A | CA425201984 | HADHB | c.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=) | |
2 | g.26285427G>C | CA346096247 | HADHB | c.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) | |
2 | g.26285427G>T | CA346096248 | HADHB | c.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) | |
2 | g.26285428A>C | CA346096249 | HADHB | c.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) | |
2 | g.26285428A>G | CA346096251 | HADHB | c.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) | |
2 | g.26285428A>T | CA346096250 | HADHB | c.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) | |
2 | g.26285429A>C | CA346096252 | HADHB | c.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) | |
2 | g.26285429A>G | CA346096253 | HADHB | c.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 |
2 | g.26285429A>T | CA346096254 | HADHB | c.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) | |
2 | g.26285430G>A | CA425201985 | HADHB | c.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 |
2 | g.26285430G>C | CA346096255 | HADHB | c.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) | |
2 | g.26285430G>T | CA346096256 | HADHB | c.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 |
2 | g.26285431T>A | CA346096257 | HADHB | c.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) | |
2 | g.26285431T>C | CA346096258 | HADHB | c.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 |
2 | g.26285431T>G | CA346096259 | HADHB | c.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) | |
2 | g.26285432T>A | CA346096260 | HADHB | c.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) | |
2 | g.26285432T>C | CA346096261 | HADHB | c.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) | |
2 | g.26285432T>G | CA346096262 | HADHB | c.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) | |
2 | g.26285433T>A | CA346096263 | HADHB | c.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 |
2 | g.26285433T>C | CA425201986 | HADHB | c.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=) | |
2 | g.26285433T>G | CA1560503 | HADHB | c.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 |
2 | g.26285433T= | CA1239745822 | HADHB | c.1251T= (p.Phe417=) c.882T= (p.Phe294=) n.2198T= c.1206T= (p.Phe402=) c.1185T= (p.Phe395=) c.1221T= (p.Phe407=) | |
2 | g.26285434A>C | CA346096264 | HADHB | c.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) | |
2 | g.26285434A>G | CA346096266 | HADHB | c.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 |
2 | g.26285434A>T | CA346096265 | HADHB | c.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) | |
2 | g.26285435A>C | CA346096267 | HADHB | c.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) | |
2 | g.26285435A>G | CA346096268 | HADHB | c.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) | |
2 | g.26285435A>T | CA346096269 | HADHB | c.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) | |
2 | g.26285436T>A | CA346096270 | HADHB | c.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) | |
2 | g.26285436T>C | CA425201987 | HADHB | c.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 |
2 | g.26285436T>G | CA346096271 | HADHB | c.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) | |
2 | g.26285437A>C | CA346096272 | HADHB | c.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) | |
2 | g.26285437A>G | CA346096273 | HADHB | c.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) | |
2 | g.26285437A>T | CA346096274 | HADHB | c.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) | |
2 | g.26285438A>C | CA346096275 | HADHB | c.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) | |
2 | g.26285438A>G | CA346096276 | HADHB | c.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) | |
2 | g.26285438A>T | CA346096277 | HADHB | c.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) | |
2 | g.26285439C>A | CA346096279 | HADHB | c.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) | |
2 | g.26285439C>G | CA346096278 | HADHB | c.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) | |
2 | g.26285439C>T | CA425201989 | HADHB | c.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=) | |
2 | g.26285439_26285441delinsCTG | CA1239745823 | HADHB | c.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=) | |
2 | g.26285440T>A | CA346096280 | HADHB | c.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) | |
2 | g.26285440T>C | CA346096281 | HADHB | c.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) | |
2 | g.26285440T>G | CA346096282 | HADHB | c.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 |
2 | g.26285440T= | CA1239745824 | HADHB | c.1258T= (p.Trp420=) c.889T= (p.Trp297=) n.2205T= c.1213T= (p.Trp405=) c.1192T= (p.Trp398=) c.1228T= (p.Trp410=) | |
2 | g.26285440_26285441del | CA1560504 | HADHB | c.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 |
2 | g.26285441G>A | CA346096284 | HADHB | c.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 |
2 | g.26285441G>C | CA346096283 | HADHB | c.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) | |
2 | g.26285441G>T | CA346096286 | HADHB | c.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) | |
2 | g.26285443_26285444del | CA346096285 | HADHB | c.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?) | |
2 | g.26285442G>A | CA346096287 | HADHB | c.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) | |
2 | g.26285442G>C | CA346096289 | HADHB | c.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) | |
2 | g.26285442G>T | CA346096288 | HADHB | c.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) | |
2 | g.26285443G>A | CA346096732 | HADHB | c.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) | |
2 | g.26285443G>C | CA346096733 | HADHB | c.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) | |
2 | g.26285443G>T | CA346096734 | HADHB | c.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) | |
2 | g.26285444G>A | CA346096735 | HADHB | c.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) | |
2 | g.26285444G>C | CA346096736 | HADHB | c.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) | |
2 | g.26285444G>T | CA346096737 | HADHB | c.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) | |
2 | g.26285445T>A | CA425202016 | HADHB | c.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=) | |
2 | g.26285445T>C | CA425202018 | HADHB | c.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=) | |
2 | g.26285445T>G | CA425202021 | HADHB | c.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=) | |
2 | g.26285446G>A | CA346096738 | HADHB | c.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) | |
2 | g.26285446G>C | CA346096739 | HADHB | c.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) | |
2 | g.26285446G>T | CA346096740 | HADHB | c.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) | |
2 | g.26285447G>A | CA346096741 | HADHB | c.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) | |
2 | g.26285447G>C | CA346096742 | HADHB | c.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 |
2 | g.26285447G>T | CA346096743 | HADHB | c.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) | |
2 | g.26285448A>C | CA425202023 | HADHB | c.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=) | |
2 | g.26285448A>G | CA425202024 | HADHB | c.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=) | |
2 | g.26285448A>T | CA425202025 | HADHB | c.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=) | |
2 | g.26285449T>A | CA346096744 | HADHB | c.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) | |
2 | g.26285449T>C | CA346096746 | HADHB | c.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) | |
2 | g.26285449T>G | CA346096745 | HADHB | c.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) | |
2 | g.26285450C>A | CA346096747 | HADHB | c.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) | |
2 | g.26285450C>G | CA346096748 | HADHB | c.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) | |
2 | g.26285450C>T | CA346096749 | HADHB | c.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) | |
2 | g.26285451T>A | CA425202030 | HADHB | c.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=) | |
2 | g.26285451T>C | CA425202031 | HADHB | c.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 |
2 | g.26285451T>G | CA425202032 | HADHB | c.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=) | |
2 | g.26285451T= | CA1239745825 | HADHB | c.1269T= (p.Ser423=) c.900T= (p.Ser300=) n.2216T= c.1224T= (p.Ser408=) c.1203T= (p.Ser401=) c.1239T= (p.Ser413=) | |
2 | g.26285452C>A | CA346096750 | HADHB | c.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) | |
2 | g.26285452C= | CA1239745826 | HADHB | c.1270C= (p.Leu424=) c.901C= (p.Leu301=) n.2217C= c.1225C= (p.Leu409=) c.1204C= (p.Leu402=) c.1240C= (p.Leu414=) | |
2 | g.26285452C>G | CA346096751 | HADHB | c.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 |
2 | g.26285452C>T | CA425202036 | HADHB | c.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=) | |
2 | g.26285453T>A | CA346096752 | HADHB | c.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) | |
2 | g.26285453T>C | CA346096753 | HADHB | c.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 |
2 | g.26285453T>G | CA346096754 | HADHB | c.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) | |
2 | g.26285453_26285454delinsTG | CA1239745827 | HADHB | c.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=) | |
2 | g.26285454del | CA767291722 | HADHB | c.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 |
2 | g.26285454G>A | CA425202037 | HADHB | c.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=) | |
2 | g.26285454G>C | CA425202039 | HADHB | c.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=) | |
2 | g.26285454G>T | CA425202041 | HADHB | c.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=) | |
2 | g.26285455T>A | CA346096757 | HADHB | c.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) | |
2 | g.26285455T>C | CA346096756 | HADHB | c.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) | |
2 | g.26285455T>G | CA346096755 | HADHB | c.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) | |
2 | g.26285456C>A | CA346096758 | HADHB | c.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) | |
2 | g.26285456C= | CA1239745828 | HADHB | c.1274C= (p.Ser425=) c.905C= (p.Ser302=) n.2221C= c.1229C= (p.Ser410=) c.1208C= (p.Ser403=) c.1244C= (p.Ser415=) | |
2 | g.26285456C>G | CA346096759 | HADHB | c.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) | |
2 | g.26285456C>T | CA346096760 | HADHB | c.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 |
2 | g.26285457C>A | CA425202044 | HADHB | c.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=) | |
2 | g.26285457C>G | CA425202045 | HADHB | c.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=) | |
2 | g.26285457C>T | CA425202047 | HADHB | c.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 |
2 | g.26285458C>A | CA346096761 | HADHB | c.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) | |
2 | g.26285458C= | CA1239745829 | HADHB | c.1276C= (p.Leu426=) c.907C= (p.Leu303=) n.2223C= c.1231C= (p.Leu411=) c.1210C= (p.Leu404=) c.1246C= (p.Leu416=) | |
2 | g.26285458C>G | CA346096762 | HADHB | c.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) | |
2 | g.26285458C>T | CA425202051 | HADHB | c.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 |
2 | g.26285459T>A | CA346096763 | HADHB | c.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) | |
2 | g.26285459T>C | CA346096764 | HADHB | c.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) | |
2 | g.26285459T>G | CA346096765 | HADHB | c.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) | |
2 | g.26285459_26285460delinsTG | CA1239745830 | HADHB | c.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=) | |
2 | g.26285460G>A | CA425202054 | HADHB | c.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=) | |
2 | g.26285460G>C | CA425202055 | HADHB | c.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=) | |
2 | g.26285460G>T | CA425202056 | HADHB | c.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=) | |
2 | g.26285462del | CA1560505 | HADHB | c.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 |
2 | g.26285461G>A | CA346096766 | HADHB | c.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 |
2 | g.26285461G>C | CA346096767 | HADHB | c.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) | |
2 | g.26285461G= | CA1239745831 | HADHB | c.1279G= (p.Gly427=) c.910G= (p.Gly304=) n.2226G= c.1234G= (p.Gly412=) c.1213G= (p.Gly405=) c.1249G= (p.Gly417=) | |
2 | g.26285461G>T | CA346096768 | HADHB | c.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 |
2 | g.26285462G>A | CA220470 | HADHB | c.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 |
2 | g.26285462G>C | CA346096769 | HADHB | c.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) | |
2 | g.26285462G= | CA1239745832 | HADHB | c.1280G= (p.Gly427=) c.911G= (p.Gly304=) n.2227G= c.1235G= (p.Gly412=) c.1214G= (p.Gly405=) c.1250G= (p.Gly417=) | |
2 | g.26285462G>T | CA346096770 | HADHB | c.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) | |
2 | g.26285463A>C | CA425202058 | HADHB | c.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=) | |
2 | g.26285463A>G | CA425202060 | HADHB | c.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=) | |
2 | g.26285463A>T | CA425202063 | HADHB | c.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=) | |
2 | g.26285464C>A | CA346096771 | HADHB | c.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) | |
2 | g.26285464C>G | CA346096772 | HADHB | c.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) | |
2 | g.26285464C>T | CA346096773 | HADHB | c.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 |
2 | g.26285465A>C | CA346096774 | HADHB | c.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) | |
2 | g.26285465A>G | CA346096775 | HADHB | c.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) | |
2 | g.26285465A>T | CA346096776 | HADHB | c.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 |
2 | g.26285466C>A | CA346096777 | HADHB | c.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) | |
2 | g.26285466C>G | CA346096778 | HADHB | c.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 |
2 | g.26285466C>T | CA425202067 | HADHB | c.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 |
2 | g.26285467C>A | CA346096779 | HADHB | c.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) | |
2 | g.26285467C>G | CA346096780 | HADHB | c.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) | |
2 | g.26285467C>T | CA346096781 | HADHB | c.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) | |
2 | g.26285468C>A | CA346096783 | HADHB | c.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) | |
2 | g.26285468C>G | CA346096784 | HADHB | c.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 |
2 | g.26285468C>T | CA346096782 | HADHB | c.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) | |
2 | g.26285469A= | CA1239745833 | HADHB | c.1287A= (p.Pro429=) c.918A= (p.Pro306=) n.2234A= c.1242A= (p.Pro414=) c.1221A= (p.Pro407=) c.1257A= (p.Pro419=) | |
2 | g.26285469A>C | CA425202070 | HADHB | c.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=) | |
2 | g.26285469A>G | CA425202068 | HADHB | c.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 |
2 | g.26285469A>T | CA425202069 | HADHB | c.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=) | |
2 | g.26285470T>A | CA346096787 | HADHB | c.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) | |
2 | g.26285470T>C | CA346096785 | HADHB | c.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) | |
2 | g.26285470T>G | CA346096786 | HADHB | c.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) | |
2 | g.26285472del | CA2658218251 | HADHB | c.1290del (p.Phe430LeufsTer25) c.921del (p.Phe307LeufsTer25) n.2237del c.1245del (p.Phe415LeufsTer25) c.1224del (p.Phe408LeufsTer25) c.1260del (p.Phe420LeufsTer25) | gnomAD v4 |
2 | g.26285471T>A | CA346096788 | HADHB | c.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) | |
2 | g.26285471T>C | CA1560506 | HADHB | c.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 |
2 | g.26285471T>G | CA346096789 | HADHB | c.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) | |
2 | g.26285471T= | CA1239745834 | HADHB | c.1289T= (p.Phe430=) c.920T= (p.Phe307=) n.2236T= c.1244T= (p.Phe415=) c.1223T= (p.Phe408=) c.1259T= (p.Phe420=) | |
2 | g.26285472T>A | CA346096790 | HADHB | c.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) | |
2 | g.26285472T>C | CA425202072 | HADHB | c.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=) | |
2 | g.26285472T>G | CA346096791 | HADHB | c.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) | |
2 | g.26285473G>A | CA346096792 | HADHB | c.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) | |
2 | g.26285473G>C | CA346096793 | HADHB | c.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) | |
2 | g.26285473G>T | CA346096794 | HADHB | c.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) | |
2 | g.26285474G>A | CA346096795 | HADHB | c.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) | |
2 | g.26285474G>C | CA346096796 | HADHB | c.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 |
2 | g.26285474G>T | CA346096797 | HADHB | c.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) | |
2 | g.26285475A>C | CA425202079 | HADHB | c.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=) | |
2 | g.26285475A>G | CA425202083 | HADHB | c.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=) | |
2 | g.26285475A>T | CA425202081 | HADHB | c.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=) | |
2 | g.26285476G>A | CA346096798 | HADHB | c.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 |
2 | g.26285476G>C | CA346096800 | HADHB | c.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 |
2 | g.26285476G= | CA1239745835 | HADHB | c.1294G= (p.Ala432=) c.925G= (p.Ala309=) n.2241G= c.1249G= (p.Ala417=) c.1228G= (p.Ala410=) c.1264G= (p.Ala422=) | |
2 | g.26285476G>T | CA346096799 | HADHB | c.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) | |
2 | g.26285477C>A | CA346096801 | HADHB | c.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) | |
2 | g.26285477C= | CA1239745836 | HADHB | c.1295C= (p.Ala432=) c.926C= (p.Ala309=) n.2242C= c.1250C= (p.Ala417=) c.1229C= (p.Ala410=) c.1265C= (p.Ala422=) | |
2 | g.26285477C>G | CA346096802 | HADHB | c.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) | |
2 | g.26285477C>T | CA1560507 | HADHB | c.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 |
2 | g.26285478C>A | CA425202085 | HADHB | c.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=) | |
2 | g.26285478C= | CA1239745837 | HADHB | c.1296C= (p.Ala432=) c.927C= (p.Ala309=) n.2243C= c.1251C= (p.Ala417=) c.1230C= (p.Ala410=) c.1266C= (p.Ala422=) | |
2 | g.26285478C>G | CA425202086 | HADHB | c.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=) | |
2 | g.26285478C>T | CA44342849 | HADHB | c.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 |
2 | g.26285479A>C | CA346096803 | HADHB | c.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) | |
2 | g.26285479A>G | CA346096804 | HADHB | c.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) | |
2 | g.26285479A>T | CA346096805 | HADHB | c.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) | |
2 | g.26285480del | CA2658218252 | HADHB | c.1298del (p.Thr433MetfsTer22) c.929del (p.Thr310MetfsTer22) n.2245del c.1253del (p.Thr418MetfsTer22) c.1232del (p.Thr411MetfsTer22) c.1268del (p.Thr423MetfsTer22) | gnomAD v4 |
2 | g.26285480C>A | CA346096806 | HADHB | c.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) | |
2 | g.26285480C= | CA1239745838 | HADHB | c.1298C= (p.Thr433=) c.929C= (p.Thr310=) n.2245C= c.1253C= (p.Thr418=) c.1232C= (p.Thr411=) c.1268C= (p.Thr423=) | |
2 | g.26285480C>G | CA346096807 | HADHB | c.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 |
2 | g.26285480C>T | CA1560508 | HADHB | c.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 |
2 | g.26285481T>A | CA425202089 | HADHB | c.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=) | |
2 | g.26285481T>C | CA425202090 | HADHB | c.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=) | |
2 | g.26285481T>G | CA425202091 | HADHB | c.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=) | |
2 | g.26285482G>A | CA346096809 | HADHB | c.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) | |
2 | g.26285482G>C | CA346096810 | HADHB | c.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) | |
2 | g.26285482G>T | CA346096808 | HADHB | c.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) | |
2 | g.26285483G>A | CA346096811 | HADHB | c.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) | |
2 | g.26285483G>C | CA346096812 | HADHB | c.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) | |
2 | g.26285483G= | CA1239745839 | HADHB | c.1301G= (p.Gly434=) c.932G= (p.Gly311=) n.2248G= c.1256G= (p.Gly419=) c.1235G= (p.Gly412=) c.1271G= (p.Gly424=) | |
2 | g.26285483G>T | CA1560509 | HADHB | c.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 |
2 | g.26285484C>A | CA425202096 | HADHB | c.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=) | |
2 | g.26285484C= | CA1239745840 | HADHB | c.1302C= (p.Gly434=) c.933C= (p.Gly311=) n.2249C= c.1257C= (p.Gly419=) c.1236C= (p.Gly412=) c.1272C= (p.Gly424=) | |
2 | g.26285484C>G | CA425202097 | HADHB | c.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=) | |
2 | g.26285484C>T | CA1560510 | HADHB | c.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 |
2 | g.26285485T>A | CA346096813 | HADHB | c.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) | |
2 | g.26285485T>C | CA346096814 | HADHB | c.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) | |
2 | g.26285485T>G | CA346096815 | HADHB | c.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) | |
2 | g.26285486G>A | CA346096816 | HADHB | c.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 |
2 | g.26285486G>C | CA346096818 | HADHB | c.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) | |
2 | g.26285486G>T | CA346096817 | HADHB | c.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) | |
2 | g.26285487C>A | CA346096819 | HADHB | c.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) | |
2 | g.26285487C>G | CA346096820 | HADHB | c.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) | |
2 | g.26285487C>T | CA425202101 | HADHB | c.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=) | |
2 | g.26285490_26285513del | CA2658218253 | HADHB | c.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 |
2 | g.26285488A>C | CA425202102 | HADHB | c.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=) | |
2 | g.26285488A>G | CA346096821 | HADHB | c.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 |
2 | g.26285488A>T | CA346096822 | HADHB | c.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) | |
2 | g.26285489G>A | CA346096823 | HADHB | c.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 |
2 | g.26285489G>C | CA346096825 | HADHB | c.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) | |
2 | g.26285489G>T | CA346096824 | HADHB | c.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) | |
2 | g.26285490G>A | CA425202108 | HADHB | c.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=) | |
2 | g.26285490G>C | CA346096826 | HADHB | c.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) | |
2 | g.26285490G>T | CA346096827 | HADHB | c.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) |