Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.92719342A>C | CA374038996 | BICD2 | c.1303T>G (p.Leu435Val) c.1384T>G (p.Leu462Val) | |
9 | g.92719342A>G | CA466343181 | BICD2 | c.1303T>C (p.Leu435=) c.1384T>C (p.Leu462=) | |
9 | g.92719342A>T | CA374038998 | BICD2 | c.1303T>A (p.Leu435Met) c.1384T>A (p.Leu462Met) | |
9 | g.92719343G>A | CA466343182 | BICD2 | c.1302C>T (p.Ile434=) c.1383C>T (p.Ile461=) | |
9 | g.92719343G>C | CA374038999 | BICD2 | c.1302C>G (p.Ile434Met) c.1383C>G (p.Ile461Met) | |
9 | g.92719343G>T | CA466343183 | BICD2 | c.1302C>A (p.Ile434=) c.1383C>A (p.Ile461=) | |
9 | g.92719344A>C | CA374039001 | BICD2 | c.1301T>G (p.Ile434Ser) c.1382T>G (p.Ile461Ser) | |
9 | g.92719344A>G | CA374039003 | BICD2 | c.1301T>C (p.Ile434Thr) c.1382T>C (p.Ile461Thr) | |
9 | g.92719344A>T | CA374039014 | BICD2 | c.1301T>A (p.Ile434Asn) c.1382T>A (p.Ile461Asn) | |
9 | g.92719345T>A | CA374039017 | BICD2 | c.1300A>T (p.Ile434Phe) c.1381A>T (p.Ile461Phe) | |
9 | g.92719345T>C | CA374039021 | BICD2 | c.1300A>G (p.Ile434Val) c.1381A>G (p.Ile461Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719345T>G | CA374039019 | BICD2 | c.1300A>C (p.Ile434Leu) c.1381A>C (p.Ile461Leu) | |
9 | g.92719345T= | CA1864362204 | BICD2 | c.1300A= (p.Ile434=) c.1381A= (p.Ile461=) | |
9 | g.92719346C>A | CA374039022 | BICD2 | c.1299G>T (p.Glu433Asp) c.1380G>T (p.Glu460Asp) | |
9 | g.92719346C>G | CA374039023 | BICD2 | c.1299G>C (p.Glu433Asp) c.1380G>C (p.Glu460Asp) | |
9 | g.92719346C>T | CA466343043 | BICD2 | c.1299G>A (p.Glu433=) c.1380G>A (p.Glu460=) | ClinVar |
9 | g.92719347T>A | CA374039027 | BICD2 | c.1298A>T (p.Glu433Val) c.1379A>T (p.Glu460Val) | |
9 | g.92719347T>C | CA374039030 | BICD2 | c.1298A>G (p.Glu433Gly) c.1379A>G (p.Glu460Gly) | |
9 | g.92719347T>G | CA374039032 | BICD2 | c.1298A>C (p.Glu433Ala) c.1379A>C (p.Glu460Ala) | |
9 | g.92719348C>A | CA374039034 | BICD2 | c.1297G>T (p.Glu433Ter) c.1378G>T (p.Glu460Ter) | |
9 | g.92719348C>G | CA374039035 | BICD2 | c.1297G>C (p.Glu433Gln) c.1378G>C (p.Glu460Gln) | |
9 | g.92719348C>T | CA374039036 | BICD2 | c.1297G>A (p.Glu433Lys) c.1378G>A (p.Glu460Lys) | |
9 | g.92719349A>C | CA466343045 | BICD2 | c.1296T>G (p.Pro432=) c.1377T>G (p.Pro459=) | |
9 | g.92719349A>G | CA466343046 | BICD2 | c.1296T>C (p.Pro432=) c.1377T>C (p.Pro459=) | |
9 | g.92719349A>T | CA466343047 | BICD2 | c.1296T>A (p.Pro432=) c.1377T>A (p.Pro459=) | |
9 | g.92719350G>A | CA374039037 | BICD2 | c.1295C>T (p.Pro432Leu) c.1376C>T (p.Pro459Leu) | ClinVar gnomAD v4 |
9 | g.92719350G>C | CA374039038 | BICD2 | c.1295C>G (p.Pro432Arg) c.1376C>G (p.Pro459Arg) | |
9 | g.92719350G>T | CA374039040 | BICD2 | c.1295C>A (p.Pro432His) c.1376C>A (p.Pro459His) | |
9 | g.92719351G>A | CA374039044 | BICD2 | c.1294C>T (p.Pro432Ser) c.1375C>T (p.Pro459Ser) | |
9 | g.92719351G>C | CA374039043 | BICD2 | c.1294C>G (p.Pro432Ala) c.1375C>G (p.Pro459Ala) | |
9 | g.92719351G>T | CA374039042 | BICD2 | c.1294C>A (p.Pro432Thr) c.1375C>A (p.Pro459Thr) | ClinVar |
9 | g.92719352C>A | CA466343051 | BICD2 | c.1293G>T (p.Gly431=) c.1374G>T (p.Gly458=) | |
9 | g.92719352C>G | CA466343052 | BICD2 | c.1293G>C (p.Gly431=) c.1374G>C (p.Gly458=) | |
9 | g.92719352C>T | CA466343053 | BICD2 | c.1293G>A (p.Gly431=) c.1374G>A (p.Gly458=) | |
9 | g.92719353C>A | CA374039045 | BICD2 | c.1292G>T (p.Gly431Val) c.1373G>T (p.Gly458Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719353C= | CA1864362206 | BICD2 | c.1292G= (p.Gly431=) c.1373G= (p.Gly458=) | |
9 | g.92719353C>G | CA374039046 | BICD2 | c.1292G>C (p.Gly431Ala) c.1373G>C (p.Gly458Ala) | |
9 | g.92719353C>T | CA374039047 | BICD2 | c.1292G>A (p.Gly431Glu) c.1373G>A (p.Gly458Glu) | |
9 | g.92719354C>A | CA374039049 | BICD2 | c.1291G>T (p.Gly431Trp) c.1372G>T (p.Gly458Trp) | |
9 | g.92719354C= | CA1864362209 | BICD2 | c.1291G= (p.Gly431=) c.1372G= (p.Gly458=) | |
9 | g.92719354C>G | CA374039051 | BICD2 | c.1291G>C (p.Gly431Arg) c.1372G>C (p.Gly458Arg) | gnomAD v4 |
9 | g.92719354C>T | CA5126590 | BICD2 | c.1291G>A (p.Gly431Arg) c.1372G>A (p.Gly458Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719355G>A | CA5126591 | BICD2 | c.1290C>T (p.Asn430=) c.1371C>T (p.Asn457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719355G>C | CA374039058 | BICD2 | c.1290C>G (p.Asn430Lys) c.1371C>G (p.Asn457Lys) | |
9 | g.92719355G= | CA1864362212 | BICD2 | c.1290C= (p.Asn430=) c.1371C= (p.Asn457=) | |
9 | g.92719355G>T | CA374039061 | BICD2 | c.1290C>A (p.Asn430Lys) c.1371C>A (p.Asn457Lys) | gnomAD v4 |
9 | g.92719356T>A | CA374039063 | BICD2 | c.1289A>T (p.Asn430Ile) c.1370A>T (p.Asn457Ile) | COSMIC COSMIC |
9 | g.92719356T>C | CA374039064 | BICD2 | c.1289A>G (p.Asn430Ser) c.1370A>G (p.Asn457Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719356T>G | CA374039066 | BICD2 | c.1289A>C (p.Asn430Thr) c.1370A>C (p.Asn457Thr) | |
9 | g.92719356T= | CA1864362217 | BICD2 | c.1289A= (p.Asn430=) c.1370A= (p.Asn457=) | |
9 | g.92719357T>A | CA374039080 | BICD2 | c.1288A>T (p.Asn430Tyr) c.1369A>T (p.Asn457Tyr) | |
9 | g.92719357T>C | CA374039085 | BICD2 | c.1288A>G (p.Asn430Asp) c.1369A>G (p.Asn457Asp) | |
9 | g.92719357T>G | CA374039077 | BICD2 | c.1288A>C (p.Asn430His) c.1369A>C (p.Asn457His) | |
9 | g.92719358del | CA2690686271 | BICD2 | c.1287del (p.Asn430ThrfsTer?) c.1368del (p.Asn457ThrfsTer?) | gnomAD v4 |
9 | g.92719358G>A | CA466343061 | BICD2 | c.1287C>T (p.Ile429=) c.1368C>T (p.Ile456=) | dbSNP |
9 | g.92719358G>C | CA374039089 | BICD2 | c.1287C>G (p.Ile429Met) c.1368C>G (p.Ile456Met) | |
9 | g.92719358G= | CA1864362220 | BICD2 | c.1287C= (p.Ile429=) c.1368C= (p.Ile456=) | |
9 | g.92719358G>T | CA466343063 | BICD2 | c.1287C>A (p.Ile429=) c.1368C>A (p.Ile456=) | |
9 | g.92719359A>C | CA374039091 | BICD2 | c.1286T>G (p.Ile429Ser) c.1367T>G (p.Ile456Ser) | |
9 | g.92719359A>G | CA374039095 | BICD2 | c.1286T>C (p.Ile429Thr) c.1367T>C (p.Ile456Thr) | |
9 | g.92719359A>T | CA374039097 | BICD2 | c.1286T>A (p.Ile429Asn) c.1367T>A (p.Ile456Asn) | |
9 | g.92719360T>A | CA374039100 | BICD2 | c.1285A>T (p.Ile429Phe) c.1366A>T (p.Ile456Phe) | |
9 | g.92719360T>C | CA374039107 | BICD2 | c.1285A>G (p.Ile429Val) c.1366A>G (p.Ile456Val) | gnomAD v4 |
9 | g.92719360T>G | CA374039112 | BICD2 | c.1285A>C (p.Ile429Leu) c.1366A>C (p.Ile456Leu) | gnomAD v4 |
9 | g.92719361G>A | CA466343065 | BICD2 | c.1284C>T (p.Asp428=) c.1365C>T (p.Asp455=) | |
9 | g.92719361G>C | CA374039119 | BICD2 | c.1284C>G (p.Asp428Glu) c.1365C>G (p.Asp455Glu) | |
9 | g.92719361G>T | CA374039115 | BICD2 | c.1284C>A (p.Asp428Glu) c.1365C>A (p.Asp455Glu) | |
9 | g.92719362T>A | CA374039120 | BICD2 | c.1283A>T (p.Asp428Val) c.1364A>T (p.Asp455Val) | |
9 | g.92719362T>C | CA374039122 | BICD2 | c.1283A>G (p.Asp428Gly) c.1364A>G (p.Asp455Gly) | gnomAD v4 |
9 | g.92719362T>G | CA374039128 | BICD2 | c.1283A>C (p.Asp428Ala) c.1364A>C (p.Asp455Ala) | |
9 | g.92719363C>A | CA374039131 | BICD2 | c.1282G>T (p.Asp428Tyr) c.1363G>T (p.Asp455Tyr) | gnomAD v4 |
9 | g.92719363C>G | CA374039133 | BICD2 | c.1282G>C (p.Asp428His) c.1363G>C (p.Asp455His) | |
9 | g.92719363C>T | CA374039136 | BICD2 | c.1282G>A (p.Asp428Asn) c.1363G>A (p.Asp455Asn) | |
9 | g.92719364C>A | CA466343069 | BICD2 | c.1281G>T (p.Val427=) c.1362G>T (p.Val454=) | |
9 | g.92719364C= | CA1864362222 | BICD2 | c.1281G= (p.Val427=) c.1362G= (p.Val454=) | |
9 | g.92719364C>G | CA466343071 | BICD2 | c.1281G>C (p.Val427=) c.1362G>C (p.Val454=) | |
9 | g.92719364C>T | CA466343073 | BICD2 | c.1281G>A (p.Val427=) c.1362G>A (p.Val454=) | dbSNP gnomAD v4 |
9 | g.92719365A>C | CA374039138 | BICD2 | c.1280T>G (p.Val427Gly) c.1361T>G (p.Val454Gly) | |
9 | g.92719365A>G | CA374039142 | BICD2 | c.1280T>C (p.Val427Ala) c.1361T>C (p.Val454Ala) | |
9 | g.92719365A>T | CA374039140 | BICD2 | c.1280T>A (p.Val427Glu) c.1361T>A (p.Val454Glu) | |
9 | g.92719366C>A | CA374039144 | BICD2 | c.1279G>T (p.Val427Leu) c.1360G>T (p.Val454Leu) | |
9 | g.92719366C>G | CA374039145 | BICD2 | c.1279G>C (p.Val427Leu) c.1360G>C (p.Val454Leu) | |
9 | g.92719366C>T | CA374039146 | BICD2 | c.1279G>A (p.Val427Met) c.1360G>A (p.Val454Met) | |
9 | g.92719367C>A | CA374039148 | BICD2 | c.1278G>T (p.Glu426Asp) c.1359G>T (p.Glu453Asp) | |
9 | g.92719367C>G | CA374039149 | BICD2 | c.1278G>C (p.Glu426Asp) c.1359G>C (p.Glu453Asp) | gnomAD v4 |
9 | g.92719367C>T | CA466343076 | BICD2 | c.1278G>A (p.Glu426=) c.1359G>A (p.Glu453=) | |
9 | g.92719368T>A | CA374039159 | BICD2 | c.1277A>T (p.Glu426Val) c.1358A>T (p.Glu453Val) | |
9 | g.92719368T>C | CA374039161 | BICD2 | c.1277A>G (p.Glu426Gly) c.1358A>G (p.Glu453Gly) | |
9 | g.92719368T>G | CA374039163 | BICD2 | c.1277A>C (p.Glu426Ala) c.1358A>C (p.Glu453Ala) | |
9 | g.92719369C>A | CA374039165 | BICD2 | c.1276G>T (p.Glu426Ter) c.1357G>T (p.Glu453Ter) | |
9 | g.92719369C= | CA1864362227 | BICD2 | c.1276G= (p.Glu426=) c.1357G= (p.Glu453=) | |
9 | g.92719369C>G | CA5126593 | BICD2 | c.1276G>C (p.Glu426Gln) c.1357G>C (p.Glu453Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719369C>T | CA5126592 | BICD2 | c.1276G>A (p.Glu426Lys) c.1357G>A (p.Glu453Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719370G>A | CA196340956 | BICD2 | c.1275C>T (p.Tyr425=) c.1356C>T (p.Tyr452=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.92719370G>C | CA374039182 | BICD2 | c.1275C>G (p.Tyr425Ter) c.1356C>G (p.Tyr452Ter) | |
9 | g.92719370G= | CA1864362235 | BICD2 | c.1275C= (p.Tyr425=) c.1356C= (p.Tyr452=) | |
9 | g.92719370G>T | CA374039179 | BICD2 | c.1275C>A (p.Tyr425Ter) c.1356C>A (p.Tyr452Ter) | |
9 | g.92719371T>A | CA374039192 | BICD2 | c.1274A>T (p.Tyr425Phe) c.1355A>T (p.Tyr452Phe) | |
9 | g.92719371T>C | CA374039194 | BICD2 | c.1274A>G (p.Tyr425Cys) c.1355A>G (p.Tyr452Cys) | gnomAD v4 |
9 | g.92719371T>G | CA374039196 | BICD2 | c.1274A>C (p.Tyr425Ser) c.1355A>C (p.Tyr452Ser) | |
9 | g.92719372A= | CA1864362240 | BICD2 | c.1273T= (p.Tyr425=) c.1354T= (p.Tyr452=) | |
9 | g.92719372A>C | CA374039198 | BICD2 | c.1273T>G (p.Tyr425Asp) c.1354T>G (p.Tyr452Asp) | |
9 | g.92719372A>G | CA374039204 | BICD2 | c.1273T>C (p.Tyr425His) c.1354T>C (p.Tyr452His) | ClinVar dbSNP gnomAD v4 |
9 | g.92719372A>T | CA374039206 | BICD2 | c.1273T>A (p.Tyr425Asn) c.1354T>A (p.Tyr452Asn) | |
9 | g.92719373G>A | CA466343082 | BICD2 | c.1272C>T (p.Tyr424=) c.1353C>T (p.Tyr451=) | gnomAD v4 |
9 | g.92719373G>C | CA374039208 | BICD2 | c.1272C>G (p.Tyr424Ter) c.1353C>G (p.Tyr451Ter) | |
9 | g.92719373G>T | CA374039211 | BICD2 | c.1272C>A (p.Tyr424Ter) c.1353C>A (p.Tyr451Ter) | |
9 | g.92719374T>A | CA374039214 | BICD2 | c.1271A>T (p.Tyr424Phe) c.1352A>T (p.Tyr451Phe) | |
9 | g.92719374T>C | CA374039217 | BICD2 | c.1271A>G (p.Tyr424Cys) c.1352A>G (p.Tyr451Cys) | |
9 | g.92719374T>G | CA374039220 | BICD2 | c.1271A>C (p.Tyr424Ser) c.1352A>C (p.Tyr451Ser) | |
9 | g.92719375A= | CA1864362243 | BICD2 | c.1270T= (p.Tyr424=) c.1351T= (p.Tyr451=) | |
9 | g.92719375A>C | CA374039223 | BICD2 | c.1270T>G (p.Tyr424Asp) c.1351T>G (p.Tyr451Asp) | |
9 | g.92719375A>G | CA5126594 | BICD2 | c.1270T>C (p.Tyr424His) c.1351T>C (p.Tyr451His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719375A>T | CA374039224 | BICD2 | c.1270T>A (p.Tyr424Asn) c.1351T>A (p.Tyr451Asn) | |
9 | g.92719376G>A | CA466343095 | BICD2 | c.1269C>T (p.Asp423=) c.1350C>T (p.Asp450=) | |
9 | g.92719376G>C | CA374039227 | BICD2 | c.1269C>G (p.Asp423Glu) c.1350C>G (p.Asp450Glu) | |
9 | g.92719376G>T | CA374039225 | BICD2 | c.1269C>A (p.Asp423Glu) c.1350C>A (p.Asp450Glu) | |
9 | g.92719377T>A | CA374039230 | BICD2 | c.1268A>T (p.Asp423Val) c.1349A>T (p.Asp450Val) | |
9 | g.92719377T>C | CA374039231 | BICD2 | c.1268A>G (p.Asp423Gly) c.1349A>G (p.Asp450Gly) | gnomAD v4 |
9 | g.92719377T>G | CA374039232 | BICD2 | c.1268A>C (p.Asp423Ala) c.1349A>C (p.Asp450Ala) | |
9 | g.92719378C>A | CA374039234 | BICD2 | c.1267G>T (p.Asp423Tyr) c.1348G>T (p.Asp450Tyr) | |
9 | g.92719378C>G | CA374039236 | BICD2 | c.1267G>C (p.Asp423His) c.1348G>C (p.Asp450His) | |
9 | g.92719378C>T | CA374039238 | BICD2 | c.1267G>A (p.Asp423Asn) c.1348G>A (p.Asp450Asn) | |
9 | g.92719379C>A | CA466343100 | BICD2 | c.1266G>T (p.Gly422=) c.1347G>T (p.Gly449=) | |
9 | g.92719379C= | CA1864362246 | BICD2 | c.1266G= (p.Gly422=) c.1347G= (p.Gly449=) | |
9 | g.92719379C>G | CA466343101 | BICD2 | c.1266G>C (p.Gly422=) c.1347G>C (p.Gly449=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719379C>T | CA466343102 | BICD2 | c.1266G>A (p.Gly422=) c.1347G>A (p.Gly449=) | |
9 | g.92719380C>A | CA374039246 | BICD2 | c.1265G>T (p.Gly422Val) c.1346G>T (p.Gly449Val) | |
9 | g.92719380C>G | CA374039241 | BICD2 | c.1265G>C (p.Gly422Ala) c.1346G>C (p.Gly449Ala) | |
9 | g.92719380C>T | CA374039242 | BICD2 | c.1265G>A (p.Gly422Glu) c.1346G>A (p.Gly449Glu) | ClinVar dbSNP |
9 | g.92719381C>A | CA374039249 | BICD2 | c.1264G>T (p.Gly422Trp) c.1345G>T (p.Gly449Trp) | |
9 | g.92719381C>G | CA374039250 | BICD2 | c.1264G>C (p.Gly422Arg) c.1345G>C (p.Gly449Arg) | |
9 | g.92719381C>T | CA374039252 | BICD2 | c.1264G>A (p.Gly422Arg) c.1345G>A (p.Gly449Arg) | |
9 | g.92719382A>C | CA374039254 | BICD2 | c.1263T>G (p.Asp421Glu) c.1344T>G (p.Asp448Glu) | |
9 | g.92719382A>G | CA466343108 | BICD2 | c.1263T>C (p.Asp421=) c.1344T>C (p.Asp448=) | |
9 | g.92719382A>T | CA374039258 | BICD2 | c.1263T>A (p.Asp421Glu) c.1344T>A (p.Asp448Glu) | |
9 | g.92719383T>A | CA374039265 | BICD2 | c.1262A>T (p.Asp421Val) c.1343A>T (p.Asp448Val) | ClinVar gnomAD v4 |
9 | g.92719383T>C | CA374039262 | BICD2 | c.1262A>G (p.Asp421Gly) c.1343A>G (p.Asp448Gly) | |
9 | g.92719383T>G | CA374039261 | BICD2 | c.1262A>C (p.Asp421Ala) c.1343A>C (p.Asp448Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719383T= | CA1864362248 | BICD2 | c.1262A= (p.Asp421=) c.1343A= (p.Asp448=) | |
9 | g.92719384C>A | CA374039266 | BICD2 | c.1261G>T (p.Asp421Tyr) c.1342G>T (p.Asp448Tyr) | |
9 | g.92719384C>G | CA374039268 | BICD2 | c.1261G>C (p.Asp421His) c.1342G>C (p.Asp448His) | |
9 | g.92719384C>T | CA374039267 | BICD2 | c.1261G>A (p.Asp421Asn) c.1342G>A (p.Asp448Asn) | |
9 | g.92719385C>A | CA374039269 | BICD2 | c.1260G>T (p.Glu420Asp) c.1341G>T (p.Glu447Asp) | |
9 | g.92719385C>G | CA374039270 | BICD2 | c.1260G>C (p.Glu420Asp) c.1341G>C (p.Glu447Asp) | |
9 | g.92719385C>T | CA466343114 | BICD2 | c.1260G>A (p.Glu420=) c.1341G>A (p.Glu447=) | |
9 | g.92719386T>A | CA374039271 | BICD2 | c.1259A>T (p.Glu420Val) c.1340A>T (p.Glu447Val) | |
9 | g.92719386T>C | CA374039274 | BICD2 | c.1259A>G (p.Glu420Gly) c.1340A>G (p.Glu447Gly) | |
9 | g.92719386T>G | CA5126595 | BICD2 | c.1259A>C (p.Glu420Ala) c.1340A>C (p.Glu447Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719386T= | CA1864362253 | BICD2 | c.1259A= (p.Glu420=) c.1340A= (p.Glu447=) | |
9 | g.92719387C>A | CA374039275 | BICD2 | c.1258G>T (p.Glu420Ter) c.1339G>T (p.Glu447Ter) | |
9 | g.92719387C>G | CA374039286 | BICD2 | c.1258G>C (p.Glu420Gln) c.1339G>C (p.Glu447Gln) | |
9 | g.92719387C>T | CA374039279 | BICD2 | c.1258G>A (p.Glu420Lys) c.1339G>A (p.Glu447Lys) | |
9 | g.92719388A= | CA1864362259 | BICD2 | c.1257T= (p.His419=) c.1338T= (p.His446=) | |
9 | g.92719388A>C | CA196340968 | BICD2 | c.1257T>G (p.His419Gln) c.1338T>G (p.His446Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719388A>G | CA5126596 | BICD2 | c.1257T>C (p.His419=) c.1338T>C (p.His446=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719388A>T | CA374039294 | BICD2 | c.1257T>A (p.His419Gln) c.1338T>A (p.His446Gln) | |
9 | g.92719388_92719389del | CA1126797438 | BICD2 | c.1256_1257del (p.His419ArgfsTer14) c.1337_1338del (p.His446ArgfsTer14) | gnomAD v3 gnomAD v4 |
9 | g.92719389T>A | CA374039300 | BICD2 | c.1256A>T (p.His419Leu) c.1337A>T (p.His446Leu) | |
9 | g.92719389T>C | CA374039302 | BICD2 | c.1256A>G (p.His419Arg) c.1337A>G (p.His446Arg) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719389T>G | CA374039305 | BICD2 | c.1256A>C (p.His419Pro) c.1337A>C (p.His446Pro) | |
9 | g.92719389T= | CA1864362266 | BICD2 | c.1256A= (p.His419=) c.1337A= (p.His446=) | |
9 | g.92719390G>A | CA374039307 | BICD2 | c.1255C>T (p.His419Tyr) c.1336C>T (p.His446Tyr) | gnomAD v4 |
9 | g.92719390G>C | CA374039312 | BICD2 | c.1255C>G (p.His419Asp) c.1336C>G (p.His446Asp) | dbSNP |
9 | g.92719390G= | CA1864362269 | BICD2 | c.1255C= (p.His419=) c.1336C= (p.His446=) | |
9 | g.92719390G>T | CA374039313 | BICD2 | c.1255C>A (p.His419Asn) c.1336C>A (p.His446Asn) | |
9 | g.92719391G>A | CA5126597 | BICD2 | c.1254C>T (p.Ser418=) c.1335C>T (p.Ser445=) | dbSNP ExAC gnomAD v2 |
9 | g.92719391G>C | CA374039316 | BICD2 | c.1254C>G (p.Ser418Arg) c.1335C>G (p.Ser445Arg) | |
9 | g.92719391G= | CA1864362273 | BICD2 | c.1254C= (p.Ser418=) c.1335C= (p.Ser445=) | |
9 | g.92719391G>T | CA374039315 | BICD2 | c.1254C>A (p.Ser418Arg) c.1335C>A (p.Ser445Arg) | |
9 | g.92719392C>A | CA374039326 | BICD2 | c.1253G>T (p.Ser418Ile) c.1334G>T (p.Ser445Ile) | |
9 | g.92719392C>G | CA374039328 | BICD2 | c.1253G>C (p.Ser418Thr) c.1334G>C (p.Ser445Thr) | |
9 | g.92719392C>T | CA374039331 | BICD2 | c.1253G>A (p.Ser418Asn) c.1334G>A (p.Ser445Asn) | gnomAD v4 |
9 | g.92719393T>A | CA374039332 | BICD2 | c.1252A>T (p.Ser418Cys) c.1333A>T (p.Ser445Cys) | |
9 | g.92719393T>C | CA374039333 | BICD2 | c.1252A>G (p.Ser418Gly) c.1333A>G (p.Ser445Gly) | dbSNP |
9 | g.92719393T>G | CA374039334 | BICD2 | c.1252A>C (p.Ser418Arg) c.1333A>C (p.Ser445Arg) | |
9 | g.92719393T= | CA1864362275 | BICD2 | c.1252A= (p.Ser418=) c.1333A= (p.Ser445=) | |
9 | g.92719394G>A | CA196340987 | BICD2 | c.1251C>T (p.Asp417=) c.1332C>T (p.Asp444=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719394G>C | CA374039335 | BICD2 | c.1251C>G (p.Asp417Glu) c.1332C>G (p.Asp444Glu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719394G= | CA1864362278 | BICD2 | c.1251C= (p.Asp417=) c.1332C= (p.Asp444=) | |
9 | g.92719394G>T | CA374039341 | BICD2 | c.1251C>A (p.Asp417Glu) c.1332C>A (p.Asp444Glu) | |
9 | g.92719395T>A | CA374039348 | BICD2 | c.1250A>T (p.Asp417Val) c.1331A>T (p.Asp444Val) | |
9 | g.92719395T>C | CA5126598 | BICD2 | c.1250A>G (p.Asp417Gly) c.1331A>G (p.Asp444Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719395T>G | CA374039356 | BICD2 | c.1250A>C (p.Asp417Ala) c.1331A>C (p.Asp444Ala) | dbSNP |
9 | g.92719395T= | CA1864362284 | BICD2 | c.1250A= (p.Asp417=) c.1331A= (p.Asp444=) | |
9 | g.92719396C>A | CA374039377 | BICD2 | c.1249G>T (p.Asp417Tyr) c.1330G>T (p.Asp444Tyr) | gnomAD v4 |
9 | g.92719396C= | CA1864362294 | BICD2 | c.1249G= (p.Asp417=) c.1330G= (p.Asp444=) | |
9 | g.92719396C>G | CA374039380 | BICD2 | c.1249G>C (p.Asp417His) c.1330G>C (p.Asp444His) | |
9 | g.92719396C>T | CA374039372 | BICD2 | c.1249G>A (p.Asp417Asn) c.1330G>A (p.Asp444Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719397A>C | CA466343133 | BICD2 | c.1248T>G (p.Arg416=) c.1329T>G (p.Arg443=) | |
9 | g.92719397A>G | CA466343132 | BICD2 | c.1248T>C (p.Arg416=) c.1329T>C (p.Arg443=) | |
9 | g.92719397A>T | CA466343131 | BICD2 | c.1248T>A (p.Arg416=) c.1329T>A (p.Arg443=) | |
9 | g.92719398C>A | CA374039384 | BICD2 | c.1247G>T (p.Arg416Leu) c.1328G>T (p.Arg443Leu) | |
9 | g.92719398C= | CA1864362297 | BICD2 | c.1247G= (p.Arg416=) c.1328G= (p.Arg443=) | |
9 | g.92719398C>G | CA374039386 | BICD2 | c.1247G>C (p.Arg416Pro) c.1328G>C (p.Arg443Pro) | |
9 | g.92719398C>T | CA374039394 | BICD2 | c.1247G>A (p.Arg416His) c.1328G>A (p.Arg443His) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719399G>A | CA374039399 | BICD2 | c.1246C>T (p.Arg416Cys) c.1327C>T (p.Arg443Cys) | ClinVar dbSNP gnomAD v4 |
9 | g.92719399G>C | CA374039402 | BICD2 | c.1246C>G (p.Arg416Gly) c.1327C>G (p.Arg443Gly) | |
9 | g.92719399G= | CA1864362301 | BICD2 | c.1246C= (p.Arg416=) c.1327C= (p.Arg443=) | |
9 | g.92719399G>T | CA374039404 | BICD2 | c.1246C>A (p.Arg416Ser) c.1327C>A (p.Arg443Ser) | |
9 | g.92719400G>A | CA466343136 | BICD2 | c.1245C>T (p.Asp415=) c.1326C>T (p.Asp442=) | |
9 | g.92719400G>C | CA374039409 | BICD2 | c.1245C>G (p.Asp415Glu) c.1326C>G (p.Asp442Glu) | |
9 | g.92719400G>T | CA374039410 | BICD2 | c.1245C>A (p.Asp415Glu) c.1326C>A (p.Asp442Glu) | |
9 | g.92719401T>A | CA374039411 | BICD2 | c.1244A>T (p.Asp415Val) c.1325A>T (p.Asp442Val) | |
9 | g.92719401T>C | CA374039412 | BICD2 | c.1244A>G (p.Asp415Gly) c.1325A>G (p.Asp442Gly) | dbSNP |
9 | g.92719401T>G | CA374039416 | BICD2 | c.1244A>C (p.Asp415Ala) c.1325A>C (p.Asp442Ala) | dbSNP |
9 | g.92719401T= | CA1864362304 | BICD2 | c.1244A= (p.Asp415=) c.1325A= (p.Asp442=) | |
9 | g.92719402C>A | CA374039424 | BICD2 | c.1243G>T (p.Asp415Tyr) c.1324G>T (p.Asp442Tyr) | |
9 | g.92719402C>G | CA374039428 | BICD2 | c.1243G>C (p.Asp415His) c.1324G>C (p.Asp442His) | |
9 | g.92719402C>T | CA374039420 | BICD2 | c.1243G>A (p.Asp415Asn) c.1324G>A (p.Asp442Asn) | |
9 | g.92719402_92719405delinsCCTT | CA1864362306 | BICD2 | c.1240_1243delinsAAGG (p.Lys414=) c.1321_1324delinsAAGG (p.Lys441=) | |
9 | g.92719403C>A | CA374039441 | BICD2 | c.1242G>T (p.Lys414Asn) c.1323G>T (p.Lys441Asn) | |
9 | g.92719403C>G | CA374039448 | BICD2 | c.1242G>C (p.Lys414Asn) c.1323G>C (p.Lys441Asn) | |
9 | g.92719403C>T | CA466343144 | BICD2 | c.1242G>A (p.Lys414=) c.1323G>A (p.Lys441=) | gnomAD v4 |
9 | g.92719405_92719407del | CA589579160 | BICD2 | c.1240_1242del (p.Lys414del) c.1321_1323del (p.Lys441del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719404T>A | CA374039453 | BICD2 | c.1241A>T (p.Lys414Met) c.1322A>T (p.Lys441Met) | |
9 | g.92719404T>C | CA374039470 | BICD2 | c.1241A>G (p.Lys414Arg) c.1322A>G (p.Lys441Arg) | |
9 | g.92719404T>G | CA374039474 | BICD2 | c.1241A>C (p.Lys414Thr) c.1322A>C (p.Lys441Thr) | |
9 | g.92719405T>A | CA374039484 | BICD2 | c.1240A>T (p.Lys414Ter) c.1321A>T (p.Lys441Ter) | |
9 | g.92719405T>C | CA374039475 | BICD2 | c.1240A>G (p.Lys414Glu) c.1321A>G (p.Lys441Glu) | |
9 | g.92719405T>G | CA374039478 | BICD2 | c.1240A>C (p.Lys414Gln) c.1321A>C (p.Lys441Gln) | |
9 | g.92719406C>A | CA374039495 | BICD2 | c.1239G>T (p.Glu413Asp) c.1320G>T (p.Glu440Asp) | |
9 | g.92719406C= | CA1864362311 | BICD2 | c.1239G= (p.Glu413=) c.1320G= (p.Glu440=) | |
9 | g.92719406C>G | CA374039498 | BICD2 | c.1239G>C (p.Glu413Asp) c.1320G>C (p.Glu440Asp) | |
9 | g.92719406C>T | CA466343149 | BICD2 | c.1239G>A (p.Glu413=) c.1320G>A (p.Glu440=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92719407T>A | CA374039501 | BICD2 | c.1238A>T (p.Glu413Val) c.1319A>T (p.Glu440Val) | |
9 | g.92719407T>C | CA374039515 | BICD2 | c.1238A>G (p.Glu413Gly) c.1319A>G (p.Glu440Gly) | |
9 | g.92719407T>G | CA374039520 | BICD2 | c.1238A>C (p.Glu413Ala) c.1319A>C (p.Glu440Ala) | |
9 | g.92719408C>A | CA374039538 | BICD2 | c.1237G>T (p.Glu413Ter) c.1318G>T (p.Glu440Ter) | |
9 | g.92719408C= | CA1864362314 | BICD2 | c.1237G= (p.Glu413=) c.1318G= (p.Glu440=) | |
9 | g.92719408C>G | CA374039535 | BICD2 | c.1237G>C (p.Glu413Gln) c.1318G>C (p.Glu440Gln) | |
9 | g.92719408C>T | CA5126599 | BICD2 | c.1237G>A (p.Glu413Lys) c.1318G>A (p.Glu440Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719408_92719411delinsCGTT | CA1864362316 | BICD2 | c.1234_1237delinsAACG (p.Asn412=) c.1315_1318delinsAACG (p.Asn439=) | |
9 | g.92719409G>A | CA5126600 | BICD2 | c.1236C>T (p.Asn412=) c.1317C>T (p.Asn439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719409G>C | CA374039553 | BICD2 | c.1236C>G (p.Asn412Lys) c.1317C>G (p.Asn439Lys) | |
9 | g.92719409G= | CA1864362323 | BICD2 | c.1236C= (p.Asn412=) c.1317C= (p.Asn439=) | |
9 | g.92719409G>T | CA374039561 | BICD2 | c.1236C>A (p.Asn412Lys) c.1317C>A (p.Asn439Lys) | |
9 | g.92719411_92719413del | CA589579161 | BICD2 | c.1234_1236del (p.Asn412del) c.1315_1317del (p.Asn439del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719410T>A | CA374039564 | BICD2 | c.1235A>T (p.Asn412Ile) c.1316A>T (p.Asn439Ile) | |
9 | g.92719410T>C | CA374039576 | BICD2 | c.1235A>G (p.Asn412Ser) c.1316A>G (p.Asn439Ser) | gnomAD v4 |
9 | g.92719410T>G | CA374039580 | BICD2 | c.1235A>C (p.Asn412Thr) c.1316A>C (p.Asn439Thr) | |
9 | g.92719411T>A | CA374039609 | BICD2 | c.1234A>T (p.Asn412Tyr) c.1315A>T (p.Asn439Tyr) | |
9 | g.92719411T>C | CA374039596 | BICD2 | c.1234A>G (p.Asn412Asp) c.1315A>G (p.Asn439Asp) | |
9 | g.92719411T>G | CA374039602 | BICD2 | c.1234A>C (p.Asn412His) c.1315A>C (p.Asn439His) | |
9 | g.92719412G>A | CA466343157 | BICD2 | c.1233C>T (p.Asp411=) c.1314C>T (p.Asp438=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719412G>C | CA374039612 | BICD2 | c.1233C>G (p.Asp411Glu) c.1314C>G (p.Asp438Glu) | |
9 | g.92719412G= | CA1864362331 | BICD2 | c.1233C= (p.Asp411=) c.1314C= (p.Asp438=) | |
9 | g.92719412G>T | CA374039628 | BICD2 | c.1233C>A (p.Asp411Glu) c.1314C>A (p.Asp438Glu) | |
9 | g.92719413T>A | CA374039631 | BICD2 | c.1232A>T (p.Asp411Val) c.1313A>T (p.Asp438Val) | |
9 | g.92719413T>C | CA374039632 | BICD2 | c.1232A>G (p.Asp411Gly) c.1313A>G (p.Asp438Gly) | |
9 | g.92719413T>G | CA374039633 | BICD2 | c.1232A>C (p.Asp411Ala) c.1313A>C (p.Asp438Ala) | |
9 | g.92719414C>A | CA374039657 | BICD2 | c.1231G>T (p.Asp411Tyr) c.1312G>T (p.Asp438Tyr) | |
9 | g.92719414C= | CA1864362334 | BICD2 | c.1231G= (p.Asp411=) c.1312G= (p.Asp438=) | |
9 | g.92719414C>G | CA374039635 | BICD2 | c.1231G>C (p.Asp411His) c.1312G>C (p.Asp438His) | |
9 | g.92719414C>T | CA374039638 | BICD2 | c.1231G>A (p.Asp411Asn) c.1312G>A (p.Asp438Asn) | dbSNP |
9 | g.92719415C>A | CA466343160 | BICD2 | c.1230G>T (p.Leu410=) c.1311G>T (p.Leu437=) | |
9 | g.92719415C= | CA1864362337 | BICD2 | c.1230G= (p.Leu410=) c.1311G= (p.Leu437=) | |
9 | g.92719415C>G | CA466343161 | BICD2 | c.1230G>C (p.Leu410=) c.1311G>C (p.Leu437=) | |
9 | g.92719415C>T | CA466343162 | BICD2 | c.1230G>A (p.Leu410=) c.1311G>A (p.Leu437=) | ClinVar dbSNP |
9 | g.92719416A>C | CA374039660 | BICD2 | c.1229T>G (p.Leu410Arg) c.1310T>G (p.Leu437Arg) | |
9 | g.92719416A>G | CA374039675 | BICD2 | c.1229T>C (p.Leu410Pro) c.1310T>C (p.Leu437Pro) | |
9 | g.92719416A>T | CA374039694 | BICD2 | c.1229T>A (p.Leu410Gln) c.1310T>A (p.Leu437Gln) | |
9 | g.92719417G>A | CA466343165 | BICD2 | c.1228C>T (p.Leu410=) c.1309C>T (p.Leu437=) | |
9 | g.92719417G>C | CA5126601 | BICD2 | c.1228C>G (p.Leu410Val) c.1309C>G (p.Leu437Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719417G= | CA1864362339 | BICD2 | c.1228C= (p.Leu410=) c.1309C= (p.Leu437=) | |
9 | g.92719417G>T | CA374039703 | BICD2 | c.1228C>A (p.Leu410Met) c.1309C>A (p.Leu437Met) | |
9 | g.92719418G>A | CA466343168 | BICD2 | c.1227C>T (p.Ala409=) c.1308C>T (p.Ala436=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719418G>C | CA466343169 | BICD2 | c.1227C>G (p.Ala409=) c.1308C>G (p.Ala436=) | gnomAD v4 |
9 | g.92719418G= | CA1864362341 | BICD2 | c.1227C= (p.Ala409=) c.1308C= (p.Ala436=) | |
9 | g.92719418G>T | CA466343170 | BICD2 | c.1227C>A (p.Ala409=) c.1308C>A (p.Ala436=) | |
9 | g.92719419G>A | CA5126602 | BICD2 | c.1226C>T (p.Ala409Val) c.1307C>T (p.Ala436Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719419G>C | CA374039713 | BICD2 | c.1226C>G (p.Ala409Gly) c.1307C>G (p.Ala436Gly) | |
9 | g.92719419G= | CA1864362344 | BICD2 | c.1226C= (p.Ala409=) c.1307C= (p.Ala436=) | |
9 | g.92719419G>T | CA374039720 | BICD2 | c.1226C>A (p.Ala409Asp) c.1307C>A (p.Ala436Asp) | |
9 | g.92719420C>A | CA374039724 | BICD2 | c.1225G>T (p.Ala409Ser) c.1306G>T (p.Ala436Ser) | |
9 | g.92719420C>G | CA374039729 | BICD2 | c.1225G>C (p.Ala409Pro) c.1306G>C (p.Ala436Pro) | |
9 | g.92719420C>T | CA374039736 | BICD2 | c.1225G>A (p.Ala409Thr) c.1306G>A (p.Ala436Thr) | |
9 | g.92719421T>A | CA466343177 | BICD2 | c.1224A>T (p.Thr408=) c.1305A>T (p.Thr435=) | |
9 | g.92719421T>C | CA5126603 | BICD2 | c.1224A>G (p.Thr408=) c.1305A>G (p.Thr435=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719421T>G | CA466343178 | BICD2 | c.1224A>C (p.Thr408=) c.1305A>C (p.Thr435=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719421T= | CA1864362347 | BICD2 | c.1224A= (p.Thr408=) c.1305A= (p.Thr435=) | |
9 | g.92719422G>A | CA374039737 | BICD2 | c.1223C>T (p.Thr408Ile) c.1304C>T (p.Thr435Ile) | |
9 | g.92719422G>C | CA374039746 | BICD2 | c.1223C>G (p.Thr408Arg) c.1304C>G (p.Thr435Arg) | |
9 | g.92719422G>T | CA374039740 | BICD2 | c.1223C>A (p.Thr408Lys) c.1304C>A (p.Thr435Lys) | |
9 | g.92719423T>A | CA374039749 | BICD2 | c.1222A>T (p.Thr408Ser) c.1303A>T (p.Thr435Ser) | |
9 | g.92719423T>C | CA374039754 | BICD2 | c.1222A>G (p.Thr408Ala) c.1303A>G (p.Thr435Ala) | gnomAD v4 |
9 | g.92719423T>G | CA374039758 | BICD2 | c.1222A>C (p.Thr408Pro) c.1303A>C (p.Thr435Pro) | |
9 | g.92719423_92719441delinsTCTGCCGCTCCTTGCTGGC | CA1864362350 | BICD2 | c.1204_1222delinsGCCAGCAAGGAGCGGCAGA (p.Ala402=) c.1285_1303delinsGCCAGCAAGGAGCGGCAGA (p.Ala429=) | |
9 | g.92719424C>A | CA374039761 | BICD2 | c.1221G>T (p.Gln407His) c.1302G>T (p.Gln434His) | |
9 | g.92719424C>G | CA374039766 | BICD2 | c.1221G>C (p.Gln407His) c.1302G>C (p.Gln434His) | |
9 | g.92719424C>T | CA466343184 | BICD2 | c.1221G>A (p.Gln407=) c.1302G>A (p.Gln434=) | ClinVar gnomAD v4 |
9 | g.92719428_92719445del | CA589579162 | BICD2 | c.1204_1221del (p.Ala402_Gln407del) c.1285_1302del (p.Ala429_Gln434del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719425T>A | CA374039768 | BICD2 | c.1220A>T (p.Gln407Leu) c.1301A>T (p.Gln434Leu) | |
9 | g.92719425T>C | CA374039774 | BICD2 | c.1220A>G (p.Gln407Arg) c.1301A>G (p.Gln434Arg) | COSMIC COSMIC |
9 | g.92719425T>G | CA374039777 | BICD2 | c.1220A>C (p.Gln407Pro) c.1301A>C (p.Gln434Pro) | |
9 | g.92719426G>A | CA374039781 | BICD2 | c.1219C>T (p.Gln407Ter) c.1300C>T (p.Gln434Ter) | |
9 | g.92719426G>C | CA374039782 | BICD2 | c.1219C>G (p.Gln407Glu) c.1300C>G (p.Gln434Glu) | |
9 | g.92719426G>T | CA374039783 | BICD2 | c.1219C>A (p.Gln407Lys) c.1300C>A (p.Gln434Lys) | |
9 | g.92719427C>A | CA466343188 | BICD2 | c.1218G>T (p.Arg406=) c.1299G>T (p.Arg433=) | |
9 | g.92719427C= | CA1864362354 | BICD2 | c.1218G= (p.Arg406=) c.1299G= (p.Arg433=) | |
9 | g.92719427C>G | CA466343189 | BICD2 | c.1218G>C (p.Arg406=) c.1299G>C (p.Arg433=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719427C>T | CA5126604 | BICD2 | c.1218G>A (p.Arg406=) c.1299G>A (p.Arg433=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719428C>A | CA374039787 | BICD2 | c.1217G>T (p.Arg406Leu) c.1298G>T (p.Arg433Leu) | |
9 | g.92719428C= | CA1864362357 | BICD2 | c.1217G= (p.Arg406=) c.1298G= (p.Arg433=) | |
9 | g.92719428C>G | CA374039785 | BICD2 | c.1217G>C (p.Arg406Pro) c.1298G>C (p.Arg433Pro) | |
9 | g.92719428C>T | CA5126605 | BICD2 | c.1217G>A (p.Arg406Gln) c.1298G>A (p.Arg433Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719429del | CA2690686272 | BICD2 | c.1216del (p.Arg406GlyfsTer?) c.1297del (p.Arg433GlyfsTer?) | gnomAD v4 |
9 | g.92719429G>A | CA374039789 | BICD2 | c.1216C>T (p.Arg406Trp) c.1297C>T (p.Arg433Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719429G>C | CA374039791 | BICD2 | c.1216C>G (p.Arg406Gly) c.1297C>G (p.Arg433Gly) | gnomAD v4 |
9 | g.92719429G= | CA1864362362 | BICD2 | c.1216C= (p.Arg406=) c.1297C= (p.Arg433=) | |
9 | g.92719429G>T | CA466343193 | BICD2 | c.1216C>A (p.Arg406=) c.1297C>A (p.Arg433=) | |
9 | g.92719430C>A | CA374039793 | BICD2 | c.1215G>T (p.Glu405Asp) c.1296G>T (p.Glu432Asp) | |
9 | g.92719430C>G | CA374039795 | BICD2 | c.1215G>C (p.Glu405Asp) c.1296G>C (p.Glu432Asp) | |
9 | g.92719430C>T | CA466343194 | BICD2 | c.1215G>A (p.Glu405=) c.1296G>A (p.Glu432=) | |
9 | g.92719431T>A | CA374039797 | BICD2 | c.1214A>T (p.Glu405Val) c.1295A>T (p.Glu432Val) | |
9 | g.92719431T>C | CA374039798 | BICD2 | c.1214A>G (p.Glu405Gly) c.1295A>G (p.Glu432Gly) | gnomAD v4 |
9 | g.92719431T>G | CA374039802 | BICD2 | c.1214A>C (p.Glu405Ala) c.1295A>C (p.Glu432Ala) | |
9 | g.92719432C>A | CA374039808 | BICD2 | c.1213G>T (p.Glu405Ter) c.1294G>T (p.Glu432Ter) | |
9 | g.92719432C= | CA1864362367 | BICD2 | c.1213G= (p.Glu405=) c.1294G= (p.Glu432=) | |
9 | g.92719432C>G | CA196341022 | BICD2 | c.1213G>C (p.Glu405Gln) c.1294G>C (p.Glu432Gln) | dbSNP |
9 | g.92719432C>T | CA374039812 | BICD2 | c.1213G>A (p.Glu405Lys) c.1294G>A (p.Glu432Lys) | |
9 | g.92719433C>A | CA374039818 | BICD2 | c.1212G>T (p.Lys404Asn) c.1293G>T (p.Lys431Asn) | |
9 | g.92719433C= | CA1864362374 | BICD2 | c.1212G= (p.Lys404=) c.1293G= (p.Lys431=) | |
9 | g.92719433C>G | CA374039820 | BICD2 | c.1212G>C (p.Lys404Asn) c.1293G>C (p.Lys431Asn) | |
9 | g.92719433C>T | CA196341023 | BICD2 | c.1212G>A (p.Lys404=) c.1293G>A (p.Lys431=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719434T>A | CA374039830 | BICD2 | c.1211A>T (p.Lys404Met) c.1292A>T (p.Lys431Met) | |
9 | g.92719434T>C | CA5126606 | BICD2 | c.1211A>G (p.Lys404Arg) c.1292A>G (p.Lys431Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719434T>G | CA374039825 | BICD2 | c.1211A>C (p.Lys404Thr) c.1292A>C (p.Lys431Thr) | |
9 | g.92719434T= | CA1864362380 | BICD2 | c.1211A= (p.Lys404=) c.1292A= (p.Lys431=) | |
9 | g.92719435T>A | CA374039835 | BICD2 | c.1210A>T (p.Lys404Ter) c.1291A>T (p.Lys431Ter) | |
9 | g.92719435T>C | CA374039842 | BICD2 | c.1210A>G (p.Lys404Glu) c.1291A>G (p.Lys431Glu) | |
9 | g.92719435T>G | CA374039845 | BICD2 | c.1210A>C (p.Lys404Gln) c.1291A>C (p.Lys431Gln) | |
9 | g.92719436G>A | CA466343197 | BICD2 | c.1209C>T (p.Ser403=) c.1290C>T (p.Ser430=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719436G>C | CA196341024 | BICD2 | c.1209C>G (p.Ser403Arg) c.1290C>G (p.Ser430Arg) | dbSNP |
9 | g.92719436G= | CA1864362384 | BICD2 | c.1209C= (p.Ser403=) c.1290C= (p.Ser430=) | |
9 | g.92719436G>T | CA374039850 | BICD2 | c.1209C>A (p.Ser403Arg) c.1290C>A (p.Ser430Arg) | |
9 | g.92719437C>A | CA374039865 | BICD2 | c.1208G>T (p.Ser403Ile) c.1289G>T (p.Ser430Ile) | |
9 | g.92719437C>G | CA374039858 | BICD2 | c.1208G>C (p.Ser403Thr) c.1289G>C (p.Ser430Thr) | |
9 | g.92719437C>T | CA374039856 | BICD2 | c.1208G>A (p.Ser403Asn) c.1289G>A (p.Ser430Asn) | |
9 | g.92719438T>A | CA374039872 | BICD2 | c.1207A>T (p.Ser403Cys) c.1288A>T (p.Ser430Cys) | |
9 | g.92719438T>C | CA374039880 | BICD2 | c.1207A>G (p.Ser403Gly) c.1288A>G (p.Ser430Gly) | |
9 | g.92719438T>G | CA196341026 | BICD2 | c.1207A>C (p.Ser403Arg) c.1288A>C (p.Ser430Arg) | dbSNP |
9 | g.92719438T= | CA1864362387 | BICD2 | c.1207A= (p.Ser403=) c.1288A= (p.Ser430=) | |
9 | g.92719439G>A | CA466343201 | BICD2 | c.1206C>T (p.Ala402=) c.1287C>T (p.Ala429=) | |
9 | g.92719439G>C | CA466343199 | BICD2 | c.1206C>G (p.Ala402=) c.1287C>G (p.Ala429=) | |
9 | g.92719439G>T | CA466343200 | BICD2 | c.1206C>A (p.Ala402=) c.1287C>A (p.Ala429=) | |
9 | g.92719440G>A | CA5126607 | BICD2 | c.1205C>T (p.Ala402Val) c.1286C>T (p.Ala429Val) | dbSNP ExAC gnomAD v2 |
9 | g.92719440G>C | CA374039902 | BICD2 | c.1205C>G (p.Ala402Gly) c.1286C>G (p.Ala429Gly) | |
9 | g.92719440G= | CA1864362391 | BICD2 | c.1205C= (p.Ala402=) c.1286C= (p.Ala429=) | |
9 | g.92719440G>T | CA374039905 | BICD2 | c.1205C>A (p.Ala402Asp) c.1286C>A (p.Ala429Asp) | |
9 | g.92719442_92719454del | CA2690686273 | BICD2 | c.1193_1205del (p.Arg398ProfsTer?) c.1274_1286del (p.Arg425ProfsTer?) | gnomAD v4 |
9 | g.92719441C>A | CA374039910 | BICD2 | c.1204G>T (p.Ala402Ser) c.1285G>T (p.Ala429Ser) | gnomAD v4 |
9 | g.92719441C= | CA1864362393 | BICD2 | c.1204G= (p.Ala402=) c.1285G= (p.Ala429=) | |
9 | g.92719441C>G | CA374039908 | BICD2 | c.1204G>C (p.Ala402Pro) c.1285G>C (p.Ala429Pro) | |
9 | g.92719441C>T | CA374039909 | BICD2 | c.1204G>A (p.Ala402Thr) c.1285G>A (p.Ala429Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719442C>A | CA5126608 | BICD2 | c.1203G>T (p.Gln401His) c.1284G>T (p.Gln428His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719442C= | CA1864362397 | BICD2 | c.1203G= (p.Gln401=) c.1284G= (p.Gln428=) | |
9 | g.92719442C>G | CA374039911 | BICD2 | c.1203G>C (p.Gln401His) c.1284G>C (p.Gln428His) | |
9 | g.92719442C>T | CA466343203 | BICD2 | c.1203G>A (p.Gln401=) c.1284G>A (p.Gln428=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |