| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.26285513G>A | CA341341 | HADHB | c.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 |
| 2 | g.26285513G>C | CA346096873 | HADHB | c.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) | |
| 2 | g.26285513G= | CA1239745852 | HADHB | c.1331G= (p.Arg444=) c.962G= (p.Arg321=) n.2278G= c.1286G= (p.Arg429=) c.1265G= (p.Arg422=) c.1301G= (p.Arg434=) | |
| 2 | g.26285513G>T | CA346096874 | HADHB | c.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) | |
| 2 | g.26285514A= | CA1239745853 | HADHB | c.1332A= (p.Arg444=) c.963A= (p.Arg321=) n.2279A= c.1287A= (p.Arg429=) c.1266A= (p.Arg422=) c.1302A= (p.Arg434=) | |
| 2 | g.26285514A>C | CA346096875 | HADHB | c.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) | |
| 2 | g.26285514A>G | CA1560516 | HADHB | c.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 |
| 2 | g.26285514A>T | CA346096876 | HADHB | c.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) | |
| 2 | g.26285515T>A | CA346096877 | HADHB | c.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) | |
| 2 | g.26285515T>C | CA425202161 | HADHB | c.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=) | |
| 2 | g.26285515T>G | CA346096878 | HADHB | c.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) | |
| 2 | g.26285516T>A | CA346096881 | HADHB | c.1334T>A (p.Leu445Ter) c.965T>A (p.Leu322Ter) n.2281T>A c.1289T>A (p.Leu430Ter) c.1268T>A (p.Leu423Ter) c.1304T>A (p.Leu435Ter) | |
| 2 | g.26285516T>C | CA346096880 | HADHB | c.1334T>C (p.Leu445Ser) c.965T>C (p.Leu322Ser) n.2281T>C c.1289T>C (p.Leu430Ser) c.1268T>C (p.Leu423Ser) c.1304T>C (p.Leu435Ser) | |
| 2 | g.26285516T>G | CA346096879 | HADHB | c.1334T>G (p.Leu445Ter) c.965T>G (p.Leu322Ter) n.2281T>G c.1289T>G (p.Leu430Ter) c.1268T>G (p.Leu423Ter) c.1304T>G (p.Leu435Ter) | ClinVar |
| 2 | g.26285517A>C | CA346096882 | HADHB | c.1335A>C (p.Leu445Phe) c.966A>C (p.Leu322Phe) n.2282A>C c.1290A>C (p.Leu430Phe) c.1269A>C (p.Leu423Phe) c.1305A>C (p.Leu435Phe) | |
| 2 | g.26285517A>G | CA425202166 | HADHB | c.1335A>G (p.Leu445=) c.966A>G (p.Leu322=) n.2282A>G c.1290A>G (p.Leu430=) c.1269A>G (p.Leu423=) c.1305A>G (p.Leu435=) | |
| 2 | g.26285517A>T | CA346096883 | HADHB | c.1335A>T (p.Leu445Phe) c.966A>T (p.Leu322Phe) n.2282A>T c.1290A>T (p.Leu430Phe) c.1269A>T (p.Leu423Phe) c.1305A>T (p.Leu435Phe) | |
| 2 | g.26285518C>A | CA425202167 | HADHB | c.1336C>A (p.Arg446=) c.967C>A (p.Arg323=) n.2283C>A c.1291C>A (p.Arg431=) c.1270C>A (p.Arg424=) c.1306C>A (p.Arg436=) | |
| 2 | g.26285518C= | CA1239745854 | HADHB | c.1336C= (p.Arg446=) c.967C= (p.Arg323=) n.2283C= c.1291C= (p.Arg431=) c.1270C= (p.Arg424=) c.1306C= (p.Arg436=) | |
| 2 | g.26285518C>G | CA346096884 | HADHB | c.1336C>G (p.Arg446Gly) c.967C>G (p.Arg323Gly) n.2283C>G c.1291C>G (p.Arg431Gly) c.1270C>G (p.Arg424Gly) c.1306C>G (p.Arg436Gly) | gnomAD v4 |
| 2 | g.26285518C>T | CA1560517 | HADHB | c.1336C>T (p.Arg446Trp) c.967C>T (p.Arg323Trp) n.2283C>T c.1291C>T (p.Arg431Trp) c.1270C>T (p.Arg424Trp) c.1306C>T (p.Arg436Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26285519G>A | CA1560518 | HADHB | c.1337G>A (p.Arg446Gln) c.968G>A (p.Arg323Gln) n.2284G>A c.1292G>A (p.Arg431Gln) c.1271G>A (p.Arg424Gln) c.1307G>A (p.Arg436Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.26285519G>C | CA346096885 | HADHB | c.1337G>C (p.Arg446Pro) c.968G>C (p.Arg323Pro) n.2284G>C c.1292G>C (p.Arg431Pro) c.1271G>C (p.Arg424Pro) c.1307G>C (p.Arg436Pro) | |
| 2 | g.26285519G= | CA1239745855 | HADHB | c.1337G= (p.Arg446=) c.968G= (p.Arg323=) n.2284G= c.1292G= (p.Arg431=) c.1271G= (p.Arg424=) c.1307G= (p.Arg436=) | |
| 2 | g.26285519G>T | CA346096886 | HADHB | c.1337G>T (p.Arg446Leu) c.968G>T (p.Arg323Leu) n.2284G>T c.1292G>T (p.Arg431Leu) c.1271G>T (p.Arg424Leu) c.1307G>T (p.Arg436Leu) | |
| 2 | g.26285520G>A | CA425202171 | HADHB | c.1338G>A (p.Arg446=) c.969G>A (p.Arg323=) n.2285G>A c.1293G>A (p.Arg431=) c.1272G>A (p.Arg424=) c.1308G>A (p.Arg436=) | |
| 2 | g.26285520G>C | CA425202172 | HADHB | c.1338G>C (p.Arg446=) c.969G>C (p.Arg323=) n.2285G>C c.1293G>C (p.Arg431=) c.1272G>C (p.Arg424=) c.1308G>C (p.Arg436=) | |
| 2 | g.26285520G>T | CA425202173 | HADHB | c.1338G>T (p.Arg446=) c.969G>T (p.Arg323=) n.2285G>T c.1293G>T (p.Arg431=) c.1272G>T (p.Arg424=) c.1308G>T (p.Arg436=) | |
| 2 | g.26285521A= | CA1239745857 | HADHB | c.1339A= (p.Lys447=) c.970A= (p.Lys324=) n.2286A= c.1294A= (p.Lys432=) c.1273A= (p.Lys425=) c.1309A= (p.Lys437=) | |
| 2 | g.26285521A>C | CA346096887 | HADHB | c.1339A>C (p.Lys447Gln) c.970A>C (p.Lys324Gln) n.2286A>C c.1294A>C (p.Lys432Gln) c.1273A>C (p.Lys425Gln) c.1309A>C (p.Lys437Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26285521A>G | CA346096888 | HADHB | c.1339A>G (p.Lys447Glu) c.970A>G (p.Lys324Glu) n.2286A>G c.1294A>G (p.Lys432Glu) c.1273A>G (p.Lys425Glu) c.1309A>G (p.Lys437Glu) | |
| 2 | g.26285521A>T | CA346096889 | HADHB | c.1339A>T (p.Lys447Ter) c.970A>T (p.Lys324Ter) n.2286A>T c.1294A>T (p.Lys432Ter) c.1273A>T (p.Lys425Ter) c.1309A>T (p.Lys437Ter) | |
| 2 | g.26285521_26285524delinsAAAG | CA1239745856 | HADHB | c.1339_1342delinsAAAG (p.Lys447=) c.970_973delinsAAAG (p.Lys324=) n.2286_2289delinsAAAG c.1294_1297delinsAAAG (p.Lys432=) c.1273_1276delinsAAAG (p.Lys425=) c.1309_1312delinsAAAG (p.Lys437=) | |
| 2 | g.26285522A>C | CA346096890 | HADHB | c.1340A>C (p.Lys447Thr) c.971A>C (p.Lys324Thr) n.2287A>C c.1295A>C (p.Lys432Thr) c.1274A>C (p.Lys425Thr) c.1310A>C (p.Lys437Thr) | |
| 2 | g.26285522A>G | CA346096891 | HADHB | c.1340A>G (p.Lys447Arg) c.971A>G (p.Lys324Arg) n.2287A>G c.1295A>G (p.Lys432Arg) c.1274A>G (p.Lys425Arg) c.1310A>G (p.Lys437Arg) | gnomAD v4 |
| 2 | g.26285522A>T | CA346096892 | HADHB | c.1340A>T (p.Lys447Ile) c.971A>T (p.Lys324Ile) n.2287A>T c.1295A>T (p.Lys432Ile) c.1274A>T (p.Lys425Ile) c.1310A>T (p.Lys437Ile) | |
| 2 | g.26285525_26285527del | CA531395192 | HADHB | c.1343_1345del (p.Glu448del) c.974_976del (p.Glu325del) n.2290_2292del c.1298_1300del (p.Glu433del) c.1277_1279del (p.Glu426del) c.1313_1315del (p.Glu438del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26285523A= | CA1239745858 | HADHB | c.1341A= (p.Lys447=) c.972A= (p.Lys324=) n.2288A= c.1296A= (p.Lys432=) c.1275A= (p.Lys425=) c.1311A= (p.Lys437=) | |
| 2 | g.26285523A>C | CA346096893 | HADHB | c.1341A>C (p.Lys447Asn) c.972A>C (p.Lys324Asn) n.2288A>C c.1296A>C (p.Lys432Asn) c.1275A>C (p.Lys425Asn) c.1311A>C (p.Lys437Asn) | |
| 2 | g.26285523A>G | CA425202176 | HADHB | c.1341A>G (p.Lys447=) c.972A>G (p.Lys324=) n.2288A>G c.1296A>G (p.Lys432=) c.1275A>G (p.Lys425=) c.1311A>G (p.Lys437=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26285523A>T | CA346096894 | HADHB | c.1341A>T (p.Lys447Asn) c.972A>T (p.Lys324Asn) n.2288A>T c.1296A>T (p.Lys432Asn) c.1275A>T (p.Lys425Asn) c.1311A>T (p.Lys437Asn) | |
| 2 | g.26285524G>A | CA346096895 | HADHB | c.1342G>A (p.Glu448Lys) c.973G>A (p.Glu325Lys) n.2289G>A c.1297G>A (p.Glu433Lys) c.1276G>A (p.Glu426Lys) c.1312G>A (p.Glu438Lys) | |
| 2 | g.26285524G>C | CA346096897 | HADHB | c.1342G>C (p.Glu448Gln) c.973G>C (p.Glu325Gln) n.2289G>C c.1297G>C (p.Glu433Gln) c.1276G>C (p.Glu426Gln) c.1312G>C (p.Glu438Gln) | |
| 2 | g.26285524G>T | CA346096896 | HADHB | c.1342G>T (p.Glu448Ter) c.973G>T (p.Glu325Ter) n.2289G>T c.1297G>T (p.Glu433Ter) c.1276G>T (p.Glu426Ter) c.1312G>T (p.Glu438Ter) | |
| 2 | g.26285525A= | CA1239745859 | HADHB | c.1343A= (p.Glu448=) c.974A= (p.Glu325=) n.2290A= c.1298A= (p.Glu433=) c.1277A= (p.Glu426=) c.1313A= (p.Glu438=) | |
| 2 | g.26285525A>C | CA346096898 | HADHB | c.1343A>C (p.Glu448Ala) c.974A>C (p.Glu325Ala) n.2290A>C c.1298A>C (p.Glu433Ala) c.1277A>C (p.Glu426Ala) c.1313A>C (p.Glu438Ala) | |
| 2 | g.26285525A>G | CA44342947 | HADHB | c.1343A>G (p.Glu448Gly) c.974A>G (p.Glu325Gly) n.2290A>G c.1298A>G (p.Glu433Gly) c.1277A>G (p.Glu426Gly) c.1313A>G (p.Glu438Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26285525A>T | CA346096899 | HADHB | c.1343A>T (p.Glu448Val) c.974A>T (p.Glu325Val) n.2290A>T c.1298A>T (p.Glu433Val) c.1277A>T (p.Glu426Val) c.1313A>T (p.Glu438Val) | |
| 2 | g.26285526A>C | CA346096900 | HADHB | c.1344A>C (p.Glu448Asp) c.975A>C (p.Glu325Asp) n.2291A>C c.1299A>C (p.Glu433Asp) c.1278A>C (p.Glu426Asp) c.1314A>C (p.Glu438Asp) |