Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.34856859A= | CA1620651892 | BLTP3A | c.1361A= (p.Gln454=) c.203A= (p.Gln68=) c.1274A= (p.Gln425=) c.365A= (p.Gln122=) | |
6 | g.34856859A>C | CA363739167 | BLTP3A | c.1361A>C (p.Gln454Pro) c.203A>C (p.Gln68Pro) c.1274A>C (p.Gln425Pro) c.365A>C (p.Gln122Pro) | |
6 | g.34856859A>G | CA3766627 | BLTP3A | c.1361A>G (p.Gln454Arg) c.203A>G (p.Gln68Arg) c.1274A>G (p.Gln425Arg) c.365A>G (p.Gln122Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856859A>T | CA363739168 | BLTP3A | c.1361A>T (p.Gln454Leu) c.203A>T (p.Gln68Leu) c.1274A>T (p.Gln425Leu) c.365A>T (p.Gln122Leu) | dbSNP gnomAD v4 |
6 | g.34856860G>A | CA449918545 | BLTP3A | c.1362G>A (p.Gln454=) c.204G>A (p.Gln68=) c.1275G>A (p.Gln425=) c.366G>A (p.Gln122=) | gnomAD v4 |
6 | g.34856860G>C | CA363739171 | BLTP3A | c.1362G>C (p.Gln454His) c.204G>C (p.Gln68His) c.1275G>C (p.Gln425His) c.366G>C (p.Gln122His) | |
6 | g.34856860G= | CA1620651893 | BLTP3A | c.1362G= (p.Gln454=) c.204G= (p.Gln68=) c.1275G= (p.Gln425=) c.366G= (p.Gln122=) | |
6 | g.34856860G>T | CA363739173 | BLTP3A | c.1362G>T (p.Gln454His) c.204G>T (p.Gln68His) c.1275G>T (p.Gln425His) c.366G>T (p.Gln122His) | dbSNP |
6 | g.34856861C>A | CA363739175 | BLTP3A | c.1363C>A (p.Pro455Thr) c.205C>A (p.Pro69Thr) c.1276C>A (p.Pro426Thr) c.367C>A (p.Pro123Thr) | |
6 | g.34856861C>G | CA363739180 | BLTP3A | c.1363C>G (p.Pro455Ala) c.205C>G (p.Pro69Ala) c.1276C>G (p.Pro426Ala) c.367C>G (p.Pro123Ala) | |
6 | g.34856861C>T | CA363739182 | BLTP3A | c.1363C>T (p.Pro455Ser) c.205C>T (p.Pro69Ser) c.1276C>T (p.Pro426Ser) c.367C>T (p.Pro123Ser) | gnomAD v4 |
6 | g.34856862C>A | CA363739188 | BLTP3A | c.1364C>A (p.Pro455His) c.206C>A (p.Pro69His) c.1277C>A (p.Pro426His) c.368C>A (p.Pro123His) | |
6 | g.34856862C>G | CA363739185 | BLTP3A | c.1364C>G (p.Pro455Arg) c.206C>G (p.Pro69Arg) c.1277C>G (p.Pro426Arg) c.368C>G (p.Pro123Arg) | |
6 | g.34856862C>T | CA363739186 | BLTP3A | c.1364C>T (p.Pro455Leu) c.206C>T (p.Pro69Leu) c.1277C>T (p.Pro426Leu) c.368C>T (p.Pro123Leu) | |
6 | g.34856863T>A | CA449918553 | BLTP3A | c.1365T>A (p.Pro455=) c.207T>A (p.Pro69=) c.1278T>A (p.Pro426=) c.369T>A (p.Pro123=) | |
6 | g.34856863T>C | CA449918555 | BLTP3A | c.1365T>C (p.Pro455=) c.207T>C (p.Pro69=) c.1278T>C (p.Pro426=) c.369T>C (p.Pro123=) | |
6 | g.34856863T>G | CA449918557 | BLTP3A | c.1365T>G (p.Pro455=) c.207T>G (p.Pro69=) c.1278T>G (p.Pro426=) c.369T>G (p.Pro123=) | |
6 | g.34856864C>A | CA363739190 | BLTP3A | c.1366C>A (p.Pro456Thr) c.208C>A (p.Pro70Thr) c.1279C>A (p.Pro427Thr) c.370C>A (p.Pro124Thr) | |
6 | g.34856864C>G | CA363739191 | BLTP3A | c.1366C>G (p.Pro456Ala) c.208C>G (p.Pro70Ala) c.1279C>G (p.Pro427Ala) c.370C>G (p.Pro124Ala) | gnomAD v4 |
6 | g.34856864C>T | CA363739193 | BLTP3A | c.1366C>T (p.Pro456Ser) c.208C>T (p.Pro70Ser) c.1279C>T (p.Pro427Ser) c.370C>T (p.Pro124Ser) | |
6 | g.34856865C>A | CA363739196 | BLTP3A | c.1367C>A (p.Pro456Gln) c.209C>A (p.Pro70Gln) c.1280C>A (p.Pro427Gln) c.371C>A (p.Pro124Gln) | |
6 | g.34856865C>G | CA363739197 | BLTP3A | c.1367C>G (p.Pro456Arg) c.209C>G (p.Pro70Arg) c.1280C>G (p.Pro427Arg) c.371C>G (p.Pro124Arg) | |
6 | g.34856865C>T | CA363739199 | BLTP3A | c.1367C>T (p.Pro456Leu) c.209C>T (p.Pro70Leu) c.1280C>T (p.Pro427Leu) c.371C>T (p.Pro124Leu) | |
6 | g.34856866A>C | CA449918563 | BLTP3A | c.1368A>C (p.Pro456=) c.210A>C (p.Pro70=) c.1281A>C (p.Pro427=) c.372A>C (p.Pro124=) | gnomAD v4 |
6 | g.34856866A>G | CA449918564 | BLTP3A | c.1368A>G (p.Pro456=) c.210A>G (p.Pro70=) c.1281A>G (p.Pro427=) c.372A>G (p.Pro124=) | |
6 | g.34856866A>T | CA449918565 | BLTP3A | c.1368A>T (p.Pro456=) c.210A>T (p.Pro70=) c.1281A>T (p.Pro427=) c.372A>T (p.Pro124=) | |
6 | g.34856867G>A | CA363739203 | BLTP3A | c.1369G>A (p.Ala457Thr) c.211G>A (p.Ala71Thr) c.1282G>A (p.Ala428Thr) c.373G>A (p.Ala125Thr) | |
6 | g.34856867G>C | CA363739205 | BLTP3A | c.1369G>C (p.Ala457Pro) c.211G>C (p.Ala71Pro) c.1282G>C (p.Ala428Pro) c.373G>C (p.Ala125Pro) | |
6 | g.34856867G= | CA1620651894 | BLTP3A | c.1369G= (p.Ala457=) c.211G= (p.Ala71=) c.1282G= (p.Ala428=) c.373G= (p.Ala125=) | |
6 | g.34856867G>T | CA3766628 | BLTP3A | c.1369G>T (p.Ala457Ser) c.211G>T (p.Ala71Ser) c.1282G>T (p.Ala428Ser) c.373G>T (p.Ala125Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856868C>A | CA363739208 | BLTP3A | c.1370C>A (p.Ala457Glu) c.212C>A (p.Ala71Glu) c.1283C>A (p.Ala428Glu) c.374C>A (p.Ala125Glu) | gnomAD v4 |
6 | g.34856868C>G | CA363739210 | BLTP3A | c.1370C>G (p.Ala457Gly) c.212C>G (p.Ala71Gly) c.1283C>G (p.Ala428Gly) c.374C>G (p.Ala125Gly) | |
6 | g.34856868C>T | CA363739212 | BLTP3A | c.1370C>T (p.Ala457Val) c.212C>T (p.Ala71Val) c.1283C>T (p.Ala428Val) c.374C>T (p.Ala125Val) | |
6 | g.34856869A= | CA1620651895 | BLTP3A | c.1371A= (p.Ala457=) c.213A= (p.Ala71=) c.1284A= (p.Ala428=) c.375A= (p.Ala125=) | |
6 | g.34856869A>C | CA449918572 | BLTP3A | c.1371A>C (p.Ala457=) c.213A>C (p.Ala71=) c.1284A>C (p.Ala428=) c.375A>C (p.Ala125=) | |
6 | g.34856869A>G | CA449918574 | BLTP3A | c.1371A>G (p.Ala457=) c.213A>G (p.Ala71=) c.1284A>G (p.Ala428=) c.375A>G (p.Ala125=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.34856869A>T | CA449918576 | BLTP3A | c.1371A>T (p.Ala457=) c.213A>T (p.Ala71=) c.1284A>T (p.Ala428=) c.375A>T (p.Ala125=) | gnomAD v4 |
6 | g.34856870T>A | CA363739215 | BLTP3A | c.1372T>A (p.Trp458Arg) c.214T>A (p.Trp72Arg) c.1285T>A (p.Trp429Arg) c.376T>A (p.Trp126Arg) | |
6 | g.34856870T>C | CA3766629 | BLTP3A | c.1372T>C (p.Trp458Arg) c.214T>C (p.Trp72Arg) c.1285T>C (p.Trp429Arg) c.376T>C (p.Trp126Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856870T>G | CA363739214 | BLTP3A | c.1372T>G (p.Trp458Gly) c.214T>G (p.Trp72Gly) c.1285T>G (p.Trp429Gly) c.376T>G (p.Trp126Gly) | gnomAD v4 |
6 | g.34856870T= | CA1620651896 | BLTP3A | c.1372T= (p.Trp458=) c.214T= (p.Trp72=) c.1285T= (p.Trp429=) c.376T= (p.Trp126=) | |
6 | g.34856871G>A | CA3766630 | BLTP3A | c.1373G>A (p.Trp458Ter) c.215G>A (p.Trp72Ter) c.1286G>A (p.Trp429Ter) c.377G>A (p.Trp126Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856871G>C | CA363739218 | BLTP3A | c.1373G>C (p.Trp458Ser) c.215G>C (p.Trp72Ser) c.1286G>C (p.Trp429Ser) c.377G>C (p.Trp126Ser) | |
6 | g.34856871G= | CA1620651897 | BLTP3A | c.1373G= (p.Trp458=) c.215G= (p.Trp72=) c.1286G= (p.Trp429=) c.377G= (p.Trp126=) | |
6 | g.34856871G>T | CA363739220 | BLTP3A | c.1373G>T (p.Trp458Leu) c.215G>T (p.Trp72Leu) c.1286G>T (p.Trp429Leu) c.377G>T (p.Trp126Leu) | |
6 | g.34856872G>A | CA363739222 | BLTP3A | c.1374G>A (p.Trp458Ter) c.216G>A (p.Trp72Ter) c.1287G>A (p.Trp429Ter) c.378G>A (p.Trp126Ter) | |
6 | g.34856872G>C | CA363739223 | BLTP3A | c.1374G>C (p.Trp458Cys) c.216G>C (p.Trp72Cys) c.1287G>C (p.Trp429Cys) c.378G>C (p.Trp126Cys) | |
6 | g.34856872G>T | CA363739224 | BLTP3A | c.1374G>T (p.Trp458Cys) c.216G>T (p.Trp72Cys) c.1287G>T (p.Trp429Cys) c.378G>T (p.Trp126Cys) | gnomAD v4 |
6 | g.34856873A>C | CA363739226 | BLTP3A | c.1375A>C (p.Asn459His) c.217A>C (p.Asn73His) c.1288A>C (p.Asn430His) c.379A>C (p.Asn127His) | |
6 | g.34856873A>G | CA363739229 | BLTP3A | c.1375A>G (p.Asn459Asp) c.217A>G (p.Asn73Asp) c.1288A>G (p.Asn430Asp) c.379A>G (p.Asn127Asp) | |
6 | g.34856873A>T | CA363739231 | BLTP3A | c.1375A>T (p.Asn459Tyr) c.217A>T (p.Asn73Tyr) c.1288A>T (p.Asn430Tyr) c.379A>T (p.Asn127Tyr) | |
6 | g.34856874A>C | CA363739233 | BLTP3A | c.1376A>C (p.Asn459Thr) c.218A>C (p.Asn73Thr) c.1289A>C (p.Asn430Thr) c.380A>C (p.Asn127Thr) | |
6 | g.34856874A>G | CA363739235 | BLTP3A | c.1376A>G (p.Asn459Ser) c.218A>G (p.Asn73Ser) c.1289A>G (p.Asn430Ser) c.380A>G (p.Asn127Ser) | |
6 | g.34856874A>T | CA363739237 | BLTP3A | c.1376A>T (p.Asn459Ile) c.218A>T (p.Asn73Ile) c.1289A>T (p.Asn430Ile) c.380A>T (p.Asn127Ile) | |
6 | g.34856875C>A | CA363739241 | BLTP3A | c.1377C>A (p.Asn459Lys) c.219C>A (p.Asn73Lys) c.1290C>A (p.Asn430Lys) c.381C>A (p.Asn127Lys) | |
6 | g.34856875C= | CA1620651898 | BLTP3A | c.1377C= (p.Asn459=) c.219C= (p.Asn73=) c.1290C= (p.Asn430=) c.381C= (p.Asn127=) | |
6 | g.34856875C>G | CA363739240 | BLTP3A | c.1377C>G (p.Asn459Lys) c.219C>G (p.Asn73Lys) c.1290C>G (p.Asn430Lys) c.381C>G (p.Asn127Lys) | |
6 | g.34856875C>T | CA3766631 | BLTP3A | c.1377C>T (p.Asn459=) c.219C>T (p.Asn73=) c.1290C>T (p.Asn430=) c.381C>T (p.Asn127=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856876C>A | CA363739242 | BLTP3A | c.1378C>A (p.Arg460Ser) c.220C>A (p.Arg74Ser) c.1291C>A (p.Arg431Ser) c.382C>A (p.Arg128Ser) | gnomAD v4 |
6 | g.34856876C= | CA1620651899 | BLTP3A | c.1378C= (p.Arg460=) c.220C= (p.Arg74=) c.1291C= (p.Arg431=) c.382C= (p.Arg128=) | |
6 | g.34856876C>G | CA363739244 | BLTP3A | c.1378C>G (p.Arg460Gly) c.220C>G (p.Arg74Gly) c.1291C>G (p.Arg431Gly) c.382C>G (p.Arg128Gly) | |
6 | g.34856876C>T | CA3766632 | BLTP3A | c.1378C>T (p.Arg460Cys) c.220C>T (p.Arg74Cys) c.1291C>T (p.Arg431Cys) c.382C>T (p.Arg128Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856877del | CA2678364168 | BLTP3A | c.1379del (p.Arg460ProfsTer?) c.221del (p.Arg74ProfsTer?) c.1292del (p.Arg431ProfsTer?) c.383del (p.Arg128ProfsTer?) | gnomAD v4 |
6 | g.34856877G>A | CA137221477 | BLTP3A | c.1379G>A (p.Arg460His) c.221G>A (p.Arg74His) c.1292G>A (p.Arg431His) c.383G>A (p.Arg128His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856877G>C | CA363739246 | BLTP3A | c.1379G>C (p.Arg460Pro) c.221G>C (p.Arg74Pro) c.1292G>C (p.Arg431Pro) c.383G>C (p.Arg128Pro) | |
6 | g.34856877G= | CA1620651900 | BLTP3A | c.1379G= (p.Arg460=) c.221G= (p.Arg74=) c.1292G= (p.Arg431=) c.383G= (p.Arg128=) | |
6 | g.34856877G>T | CA3766633 | BLTP3A | c.1379G>T (p.Arg460Leu) c.221G>T (p.Arg74Leu) c.1292G>T (p.Arg431Leu) c.383G>T (p.Arg128Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856878C>A | CA449918595 | BLTP3A | c.1380C>A (p.Arg460=) c.222C>A (p.Arg74=) c.1293C>A (p.Arg431=) c.384C>A (p.Arg128=) | |
6 | g.34856878C= | CA1620651901 | BLTP3A | c.1380C= (p.Arg460=) c.222C= (p.Arg74=) c.1293C= (p.Arg431=) c.384C= (p.Arg128=) | |
6 | g.34856878C>G | CA449918598 | BLTP3A | c.1380C>G (p.Arg460=) c.222C>G (p.Arg74=) c.1293C>G (p.Arg431=) c.384C>G (p.Arg128=) | |
6 | g.34856878C>T | CA449918597 | BLTP3A | c.1380C>T (p.Arg460=) c.222C>T (p.Arg74=) c.1293C>T (p.Arg431=) c.384C>T (p.Arg128=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856879T>A | CA363739247 | BLTP3A | c.1381T>A (p.Leu461Ile) c.223T>A (p.Leu75Ile) c.1294T>A (p.Leu432Ile) c.385T>A (p.Leu129Ile) | |
6 | g.34856879T>C | CA449918601 | BLTP3A | c.1381T>C (p.Leu461=) c.223T>C (p.Leu75=) c.1294T>C (p.Leu432=) c.385T>C (p.Leu129=) | |
6 | g.34856879T>G | CA363739248 | BLTP3A | c.1381T>G (p.Leu461Val) c.223T>G (p.Leu75Val) c.1294T>G (p.Leu432Val) c.385T>G (p.Leu129Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856879T= | CA1620651902 | BLTP3A | c.1381T= (p.Leu461=) c.223T= (p.Leu75=) c.1294T= (p.Leu432=) c.385T= (p.Leu129=) | |
6 | g.34856880T>A | CA363739249 | BLTP3A | c.1382T>A (p.Leu461Ter) c.224T>A (p.Leu75Ter) c.1295T>A (p.Leu432Ter) c.386T>A (p.Leu129Ter) | |
6 | g.34856880T>C | CA363739250 | BLTP3A | c.1382T>C (p.Leu461Ser) c.224T>C (p.Leu75Ser) c.1295T>C (p.Leu432Ser) c.386T>C (p.Leu129Ser) | gnomAD v4 |
6 | g.34856880T>G | CA363739251 | BLTP3A | c.1382T>G (p.Leu461Ter) c.224T>G (p.Leu75Ter) c.1295T>G (p.Leu432Ter) c.386T>G (p.Leu129Ter) | |
6 | g.34856881A>C | CA363739252 | BLTP3A | c.1383A>C (p.Leu461Phe) c.225A>C (p.Leu75Phe) c.1296A>C (p.Leu432Phe) c.387A>C (p.Leu129Phe) | |
6 | g.34856881A>G | CA449918606 | BLTP3A | c.1383A>G (p.Leu461=) c.225A>G (p.Leu75=) c.1296A>G (p.Leu432=) c.387A>G (p.Leu129=) | gnomAD v4 |
6 | g.34856881A>T | CA363739253 | BLTP3A | c.1383A>T (p.Leu461Phe) c.225A>T (p.Leu75Phe) c.1296A>T (p.Leu432Phe) c.387A>T (p.Leu129Phe) | |
6 | g.34856882C>A | CA363739255 | BLTP3A | c.1384C>A (p.Arg462Ser) c.226C>A (p.Arg76Ser) c.1297C>A (p.Arg433Ser) c.388C>A (p.Arg130Ser) | |
6 | g.34856882C= | CA1620651903 | BLTP3A | c.1384C= (p.Arg462=) c.226C= (p.Arg76=) c.1297C= (p.Arg433=) c.388C= (p.Arg130=) | |
6 | g.34856882C>G | CA363739254 | BLTP3A | c.1384C>G (p.Arg462Gly) c.226C>G (p.Arg76Gly) c.1297C>G (p.Arg433Gly) c.388C>G (p.Arg130Gly) | |
6 | g.34856882C>T | CA3766634 | BLTP3A | c.1384C>T (p.Arg462Cys) c.226C>T (p.Arg76Cys) c.1297C>T (p.Arg433Cys) c.388C>T (p.Arg130Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856883G>A | CA363739260 | BLTP3A | c.1385G>A (p.Arg462His) c.227G>A (p.Arg76His) c.1298G>A (p.Arg433His) c.389G>A (p.Arg130His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.34856883G>C | CA363739263 | BLTP3A | c.1385G>C (p.Arg462Pro) c.227G>C (p.Arg76Pro) c.1298G>C (p.Arg433Pro) c.389G>C (p.Arg130Pro) | |
6 | g.34856883G= | CA1620651904 | BLTP3A | c.1385G= (p.Arg462=) c.227G= (p.Arg76=) c.1298G= (p.Arg433=) c.389G= (p.Arg130=) | |
6 | g.34856883G>T | CA363739265 | BLTP3A | c.1385G>T (p.Arg462Leu) c.227G>T (p.Arg76Leu) c.1298G>T (p.Arg433Leu) c.389G>T (p.Arg130Leu) | dbSNP gnomAD v2 |
6 | g.34856884C>A | CA449918614 | BLTP3A | c.1386C>A (p.Arg462=) c.228C>A (p.Arg76=) c.1299C>A (p.Arg433=) c.390C>A (p.Arg130=) | |
6 | g.34856884C>G | CA449918615 | BLTP3A | c.1386C>G (p.Arg462=) c.228C>G (p.Arg76=) c.1299C>G (p.Arg433=) c.390C>G (p.Arg130=) | gnomAD v4 |
6 | g.34856884C>T | CA449918617 | BLTP3A | c.1386C>T (p.Arg462=) c.228C>T (p.Arg76=) c.1299C>T (p.Arg433=) c.390C>T (p.Arg130=) | |
6 | g.34856885T>A | CA363739266 | BLTP3A | c.1387T>A (p.Ser463Thr) c.229T>A (p.Ser77Thr) c.1300T>A (p.Ser434Thr) c.391T>A (p.Ser131Thr) | |
6 | g.34856885T>C | CA363739268 | BLTP3A | c.1387T>C (p.Ser463Pro) c.229T>C (p.Ser77Pro) c.1300T>C (p.Ser434Pro) c.391T>C (p.Ser131Pro) | |
6 | g.34856885T>G | CA363739270 | BLTP3A | c.1387T>G (p.Ser463Ala) c.229T>G (p.Ser77Ala) c.1300T>G (p.Ser434Ala) c.391T>G (p.Ser131Ala) | |
6 | g.34856886C>A | CA363739271 | BLTP3A | c.1388C>A (p.Ser463Tyr) c.230C>A (p.Ser77Tyr) c.1301C>A (p.Ser434Tyr) c.392C>A (p.Ser131Tyr) | |
6 | g.34856886C= | CA1620651905 | BLTP3A | c.1388C= (p.Ser463=) c.230C= (p.Ser77=) c.1301C= (p.Ser434=) c.392C= (p.Ser131=) | |
6 | g.34856886C>G | CA3766635 | BLTP3A | c.1388C>G (p.Ser463Cys) c.230C>G (p.Ser77Cys) c.1301C>G (p.Ser434Cys) c.392C>G (p.Ser131Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856886C>T | CA363739272 | BLTP3A | c.1388C>T (p.Ser463Phe) c.230C>T (p.Ser77Phe) c.1301C>T (p.Ser434Phe) c.392C>T (p.Ser131Phe) | dbSNP |
6 | g.34856887T>A | CA449918623 | BLTP3A | c.1389T>A (p.Ser463=) c.231T>A (p.Ser77=) c.1302T>A (p.Ser434=) c.393T>A (p.Ser131=) | |
6 | g.34856887T>C | CA449918625 | BLTP3A | c.1389T>C (p.Ser463=) c.231T>C (p.Ser77=) c.1302T>C (p.Ser434=) c.393T>C (p.Ser131=) | |
6 | g.34856887T>G | CA449918627 | BLTP3A | c.1389T>G (p.Ser463=) c.231T>G (p.Ser77=) c.1302T>G (p.Ser434=) c.393T>G (p.Ser131=) | |
6 | g.34856888A= | CA1620651906 | BLTP3A | c.1390A= (p.Ser464=) c.232A= (p.Ser78=) c.1303A= (p.Ser435=) c.394A= (p.Ser132=) | |
6 | g.34856888A>C | CA363739275 | BLTP3A | c.1390A>C (p.Ser464Arg) c.232A>C (p.Ser78Arg) c.1303A>C (p.Ser435Arg) c.394A>C (p.Ser132Arg) | |
6 | g.34856888A>G | CA363739277 | BLTP3A | c.1390A>G (p.Ser464Gly) c.232A>G (p.Ser78Gly) c.1303A>G (p.Ser435Gly) c.394A>G (p.Ser132Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856888A>T | CA363739279 | BLTP3A | c.1390A>T (p.Ser464Cys) c.232A>T (p.Ser78Cys) c.1303A>T (p.Ser435Cys) c.394A>T (p.Ser132Cys) | |
6 | g.34856889G>A | CA363739284 | BLTP3A | c.1391G>A (p.Ser464Asn) c.233G>A (p.Ser78Asn) c.1304G>A (p.Ser435Asn) c.395G>A (p.Ser132Asn) | |
6 | g.34856889G>C | CA363739282 | BLTP3A | c.1391G>C (p.Ser464Thr) c.233G>C (p.Ser78Thr) c.1304G>C (p.Ser435Thr) c.395G>C (p.Ser132Thr) | |
6 | g.34856889G>T | CA363739281 | BLTP3A | c.1391G>T (p.Ser464Ile) c.233G>T (p.Ser78Ile) c.1304G>T (p.Ser435Ile) c.395G>T (p.Ser132Ile) | |
6 | g.34856890C>A | CA363739286 | BLTP3A | c.1392C>A (p.Ser464Arg) c.234C>A (p.Ser78Arg) c.1305C>A (p.Ser435Arg) c.396C>A (p.Ser132Arg) | |
6 | g.34856890C= | CA1620651907 | BLTP3A | c.1392C= (p.Ser464=) c.234C= (p.Ser78=) c.1305C= (p.Ser435=) c.396C= (p.Ser132=) | |
6 | g.34856890C>G | CA363739288 | BLTP3A | c.1392C>G (p.Ser464Arg) c.234C>G (p.Ser78Arg) c.1305C>G (p.Ser435Arg) c.396C>G (p.Ser132Arg) | gnomAD v4 |
6 | g.34856890C>T | CA449918636 | BLTP3A | c.1392C>T (p.Ser464=) c.234C>T (p.Ser78=) c.1305C>T (p.Ser435=) c.396C>T (p.Ser132=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.34856891T>A | CA363739293 | BLTP3A | c.1393T>A (p.Cys465Ser) c.235T>A (p.Cys79Ser) c.1306T>A (p.Cys436Ser) c.397T>A (p.Cys133Ser) | |
6 | g.34856891T>C | CA363739296 | BLTP3A | c.1393T>C (p.Cys465Arg) c.235T>C (p.Cys79Arg) c.1306T>C (p.Cys436Arg) c.397T>C (p.Cys133Arg) | |
6 | g.34856891T>G | CA363739298 | BLTP3A | c.1393T>G (p.Cys465Gly) c.235T>G (p.Cys79Gly) c.1306T>G (p.Cys436Gly) c.397T>G (p.Cys133Gly) | |
6 | g.34856892G>A | CA363739299 | BLTP3A | c.1394G>A (p.Cys465Tyr) c.236G>A (p.Cys79Tyr) c.1307G>A (p.Cys436Tyr) c.398G>A (p.Cys133Tyr) | |
6 | g.34856892G>C | CA363739302 | BLTP3A | c.1394G>C (p.Cys465Ser) c.236G>C (p.Cys79Ser) c.1307G>C (p.Cys436Ser) c.398G>C (p.Cys133Ser) | |
6 | g.34856892G= | CA1620651908 | BLTP3A | c.1394G= (p.Cys465=) c.236G= (p.Cys79=) c.1307G= (p.Cys436=) c.398G= (p.Cys133=) | |
6 | g.34856892G>T | CA363739304 | BLTP3A | c.1394G>T (p.Cys465Phe) c.236G>T (p.Cys79Phe) c.1307G>T (p.Cys436Phe) c.398G>T (p.Cys133Phe) | dbSNP |
6 | g.34856893C>A | CA363739306 | BLTP3A | c.1395C>A (p.Cys465Ter) c.237C>A (p.Cys79Ter) c.1308C>A (p.Cys436Ter) c.399C>A (p.Cys133Ter) | |
6 | g.34856893C>G | CA363739308 | BLTP3A | c.1395C>G (p.Cys465Trp) c.237C>G (p.Cys79Trp) c.1308C>G (p.Cys436Trp) c.399C>G (p.Cys133Trp) | |
6 | g.34856893C>T | CA449918644 | BLTP3A | c.1395C>T (p.Cys465=) c.237C>T (p.Cys79=) c.1308C>T (p.Cys436=) c.399C>T (p.Cys133=) | |
6 | g.34856893dup | CA2678364169 | BLTP3A | c.1395dup (p.Met466HisfsTer7) c.237dup (p.Met80HisfsTer7) c.1308dup (p.Met437HisfsTer7) c.399dup (p.Met134HisfsTer7) | gnomAD v4 |
6 | g.34856894A>C | CA363739310 | BLTP3A | c.1396A>C (p.Met466Leu) c.238A>C (p.Met80Leu) c.1309A>C (p.Met437Leu) c.400A>C (p.Met134Leu) | |
6 | g.34856894A>G | CA363739312 | BLTP3A | c.1396A>G (p.Met466Val) c.238A>G (p.Met80Val) c.1309A>G (p.Met437Val) c.400A>G (p.Met134Val) | |
6 | g.34856894A>T | CA363739314 | BLTP3A | c.1396A>T (p.Met466Leu) c.238A>T (p.Met80Leu) c.1309A>T (p.Met437Leu) c.400A>T (p.Met134Leu) | |
6 | g.34856894_34856897delinsATGG | CA1620651909 | BLTP3A | c.1396_1399delinsATGG (p.Met466=) c.238_241delinsATGG (p.Met80=) c.1309_1312delinsATGG (p.Met437=) c.400_403delinsATGG (p.Met134=) | |
6 | g.34856894_34856906del | CA2570903396 | BLTP3A | c.1396_1408del (p.Met466TrpfsTer?) c.238_250del (p.Met80TrpfsTer?) c.1309_1321del (p.Met437TrpfsTer?) c.400_412del (p.Met134TrpfsTer?) | |
6 | g.34856895T>A | CA363739317 | BLTP3A | c.1397T>A (p.Met466Lys) c.239T>A (p.Met80Lys) c.1310T>A (p.Met437Lys) c.401T>A (p.Met134Lys) | |
6 | g.34856895T>C | CA363739318 | BLTP3A | c.1397T>C (p.Met466Thr) c.239T>C (p.Met80Thr) c.1310T>C (p.Met437Thr) c.401T>C (p.Met134Thr) | |
6 | g.34856895T>G | CA363739316 | BLTP3A | c.1397T>G (p.Met466Arg) c.239T>G (p.Met80Arg) c.1310T>G (p.Met437Arg) c.401T>G (p.Met134Arg) | |
6 | g.34856895dup | CA2711385593 | BLTP3A | c.1397dup (p.Met466IlefsTer7) c.239dup (p.Met80IlefsTer7) c.1310dup (p.Met437IlefsTer7) c.401dup (p.Met134IlefsTer7) | dbSNP |
6 | g.34856899_34856901del | CA3766636 | BLTP3A | c.1401_1403del (p.Val468del) c.243_245del (p.Val82del) c.1314_1316del (p.Val439del) c.405_407del (p.Val136del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856896G>A | CA363739321 | BLTP3A | c.1398G>A (p.Met466Ile) c.240G>A (p.Met80Ile) c.1311G>A (p.Met437Ile) c.402G>A (p.Met134Ile) | |
6 | g.34856896G>C | CA363739320 | BLTP3A | c.1398G>C (p.Met466Ile) c.240G>C (p.Met80Ile) c.1311G>C (p.Met437Ile) c.402G>C (p.Met134Ile) | |
6 | g.34856896G>T | CA363739324 | BLTP3A | c.1398G>T (p.Met466Ile) c.240G>T (p.Met80Ile) c.1311G>T (p.Met437Ile) c.402G>T (p.Met134Ile) | |
6 | g.34856897G>A | CA363739325 | BLTP3A | c.1399G>A (p.Val467Met) c.241G>A (p.Val81Met) c.1312G>A (p.Val438Met) c.403G>A (p.Val135Met) | dbSNP gnomAD v4 |
6 | g.34856897G>C | CA363739326 | BLTP3A | c.1399G>C (p.Val467Leu) c.241G>C (p.Val81Leu) c.1312G>C (p.Val438Leu) c.403G>C (p.Val135Leu) | |
6 | g.34856897G= | CA1620651910 | BLTP3A | c.1399G= (p.Val467=) c.241G= (p.Val81=) c.1312G= (p.Val438=) c.403G= (p.Val135=) | |
6 | g.34856897G>T | CA363739327 | BLTP3A | c.1399G>T (p.Val467Leu) c.241G>T (p.Val81Leu) c.1312G>T (p.Val438Leu) c.403G>T (p.Val135Leu) | gnomAD v4 |
6 | g.34856898T>A | CA363739329 | BLTP3A | c.1400T>A (p.Val467Glu) c.242T>A (p.Val81Glu) c.1313T>A (p.Val438Glu) c.404T>A (p.Val135Glu) | |
6 | g.34856898T>C | CA363739330 | BLTP3A | c.1400T>C (p.Val467Ala) c.242T>C (p.Val81Ala) c.1313T>C (p.Val438Ala) c.404T>C (p.Val135Ala) | |
6 | g.34856898T>G | CA363739332 | BLTP3A | c.1400T>G (p.Val467Gly) c.242T>G (p.Val81Gly) c.1313T>G (p.Val438Gly) c.404T>G (p.Val135Gly) | |
6 | g.34856899G>A | CA449918660 | BLTP3A | c.1401G>A (p.Val467=) c.243G>A (p.Val81=) c.1314G>A (p.Val438=) c.405G>A (p.Val135=) | |
6 | g.34856899G>C | CA449918664 | BLTP3A | c.1401G>C (p.Val467=) c.243G>C (p.Val81=) c.1314G>C (p.Val438=) c.405G>C (p.Val135=) | |
6 | g.34856899G>T | CA449918662 | BLTP3A | c.1401G>T (p.Val467=) c.243G>T (p.Val81=) c.1314G>T (p.Val438=) c.405G>T (p.Val135=) | COSMIC |
6 | g.34856900G>A | CA3766637 | BLTP3A | c.1402G>A (p.Val468Ile) c.244G>A (p.Val82Ile) c.1315G>A (p.Val439Ile) c.406G>A (p.Val136Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856900G>C | CA363739335 | BLTP3A | c.1402G>C (p.Val468Leu) c.244G>C (p.Val82Leu) c.1315G>C (p.Val439Leu) c.406G>C (p.Val136Leu) | |
6 | g.34856900G= | CA1620651911 | BLTP3A | c.1402G= (p.Val468=) c.244G= (p.Val82=) c.1315G= (p.Val439=) c.406G= (p.Val136=) | |
6 | g.34856900G>T | CA363739337 | BLTP3A | c.1402G>T (p.Val468Leu) c.244G>T (p.Val82Leu) c.1315G>T (p.Val439Leu) c.406G>T (p.Val136Leu) | |
6 | g.34856901T>A | CA363739340 | BLTP3A | c.1403T>A (p.Val468Glu) c.245T>A (p.Val82Glu) c.1316T>A (p.Val439Glu) c.407T>A (p.Val136Glu) | |
6 | g.34856901T>C | CA363739342 | BLTP3A | c.1403T>C (p.Val468Ala) c.245T>C (p.Val82Ala) c.1316T>C (p.Val439Ala) c.407T>C (p.Val136Ala) | |
6 | g.34856901T>G | CA363739345 | BLTP3A | c.1403T>G (p.Val468Gly) c.245T>G (p.Val82Gly) c.1316T>G (p.Val439Gly) c.407T>G (p.Val136Gly) | |
6 | g.34856902A>C | CA449918672 | BLTP3A | c.1404A>C (p.Val468=) c.246A>C (p.Val82=) c.1317A>C (p.Val439=) c.408A>C (p.Val136=) | |
6 | g.34856902A>G | CA449918673 | BLTP3A | c.1404A>G (p.Val468=) c.246A>G (p.Val82=) c.1317A>G (p.Val439=) c.408A>G (p.Val136=) | |
6 | g.34856902A>T | CA449918675 | BLTP3A | c.1404A>T (p.Val468=) c.246A>T (p.Val82=) c.1317A>T (p.Val439=) c.408A>T (p.Val136=) | |
6 | g.34856903C>A | CA137221533 | BLTP3A | c.1405C>A (p.Arg469=) c.247C>A (p.Arg83=) c.1318C>A (p.Arg440=) c.409C>A (p.Arg137=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856903C= | CA1620651912 | BLTP3A | c.1405C= (p.Arg469=) c.247C= (p.Arg83=) c.1318C= (p.Arg440=) c.409C= (p.Arg137=) | |
6 | g.34856903C>G | CA363739348 | BLTP3A | c.1405C>G (p.Arg469Gly) c.247C>G (p.Arg83Gly) c.1318C>G (p.Arg440Gly) c.409C>G (p.Arg137Gly) | gnomAD v4 |
6 | g.34856903C>T | CA3766638 | BLTP3A | c.1405C>T (p.Arg469Trp) c.247C>T (p.Arg83Trp) c.1318C>T (p.Arg440Trp) c.409C>T (p.Arg137Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856904G>A | CA3766639 | BLTP3A | c.1406G>A (p.Arg469Gln) c.248G>A (p.Arg83Gln) c.1319G>A (p.Arg440Gln) c.410G>A (p.Arg137Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856904G>C | CA363739351 | BLTP3A | c.1406G>C (p.Arg469Pro) c.248G>C (p.Arg83Pro) c.1319G>C (p.Arg440Pro) c.410G>C (p.Arg137Pro) | |
6 | g.34856904G= | CA1620651913 | BLTP3A | c.1406G= (p.Arg469=) c.248G= (p.Arg83=) c.1319G= (p.Arg440=) c.410G= (p.Arg137=) | |
6 | g.34856904G>T | CA363739352 | BLTP3A | c.1406G>T (p.Arg469Leu) c.248G>T (p.Arg83Leu) c.1319G>T (p.Arg440Leu) c.410G>T (p.Arg137Leu) | gnomAD v4 |
6 | g.34856905G>A | CA449918681 | BLTP3A | c.1407G>A (p.Arg469=) c.249G>A (p.Arg83=) c.1320G>A (p.Arg440=) c.411G>A (p.Arg137=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856905G>C | CA449918683 | BLTP3A | c.1407G>C (p.Arg469=) c.249G>C (p.Arg83=) c.1320G>C (p.Arg440=) c.411G>C (p.Arg137=) | |
6 | g.34856905G= | CA1620651914 | BLTP3A | c.1407G= (p.Arg469=) c.249G= (p.Arg83=) c.1320G= (p.Arg440=) c.411G= (p.Arg137=) | |
6 | g.34856905G>T | CA449918685 | BLTP3A | c.1407G>T (p.Arg469=) c.249G>T (p.Arg83=) c.1320G>T (p.Arg440=) c.411G>T (p.Arg137=) | |
6 | g.34856906G>A | CA363739354 | BLTP3A | c.1408G>A (p.Val470Met) c.250G>A (p.Val84Met) c.1321G>A (p.Val441Met) c.412G>A (p.Val138Met) | |
6 | g.34856906G>C | CA363739355 | BLTP3A | c.1408G>C (p.Val470Leu) c.250G>C (p.Val84Leu) c.1321G>C (p.Val441Leu) c.412G>C (p.Val138Leu) | gnomAD v4 |
6 | g.34856906G>T | CA363739356 | BLTP3A | c.1408G>T (p.Val470Leu) c.250G>T (p.Val84Leu) c.1321G>T (p.Val441Leu) c.412G>T (p.Val138Leu) | |
6 | g.34856907T>A | CA363739357 | BLTP3A | c.1409T>A (p.Val470Glu) c.251T>A (p.Val84Glu) c.1322T>A (p.Val441Glu) c.413T>A (p.Val138Glu) | |
6 | g.34856907T>C | CA363739358 | BLTP3A | c.1409T>C (p.Val470Ala) c.251T>C (p.Val84Ala) c.1322T>C (p.Val441Ala) c.413T>C (p.Val138Ala) | |
6 | g.34856907T>G | CA363739359 | BLTP3A | c.1409T>G (p.Val470Gly) c.251T>G (p.Val84Gly) c.1322T>G (p.Val441Gly) c.413T>G (p.Val138Gly) | |
6 | g.34856908G>A | CA449919009 | BLTP3A | c.1410G>A (p.Val470=) c.252G>A (p.Val84=) c.1323G>A (p.Val441=) c.414G>A (p.Val138=) | gnomAD v4 |
6 | g.34856908G>C | CA449919013 | BLTP3A | c.1410G>C (p.Val470=) c.252G>C (p.Val84=) c.1323G>C (p.Val441=) c.414G>C (p.Val138=) | dbSNP |
6 | g.34856908G>T | CA449919021 | BLTP3A | c.1410G>T (p.Val470=) c.252G>T (p.Val84=) c.1323G>T (p.Val441=) c.414G>T (p.Val138=) | |
6 | g.34856909G>A | CA363739360 | BLTP3A | c.1411G>A (p.Asp471Asn) c.253G>A (p.Asp85Asn) c.1324G>A (p.Asp442Asn) c.415G>A (p.Asp139Asn) | |
6 | g.34856909G>C | CA363739362 | BLTP3A | c.1411G>C (p.Asp471His) c.253G>C (p.Asp85His) c.1324G>C (p.Asp442His) c.415G>C (p.Asp139His) | |
6 | g.34856909G>T | CA363739364 | BLTP3A | c.1411G>T (p.Asp471Tyr) c.253G>T (p.Asp85Tyr) c.1324G>T (p.Asp442Tyr) c.415G>T (p.Asp139Tyr) | |
6 | g.34856910A>C | CA363739375 | BLTP3A | c.1412A>C (p.Asp471Ala) c.254A>C (p.Asp85Ala) c.1325A>C (p.Asp442Ala) c.416A>C (p.Asp139Ala) | |
6 | g.34856910A>G | CA363739372 | BLTP3A | c.1412A>G (p.Asp471Gly) c.254A>G (p.Asp85Gly) c.1325A>G (p.Asp442Gly) c.416A>G (p.Asp139Gly) | |
6 | g.34856910A>T | CA363739371 | BLTP3A | c.1412A>T (p.Asp471Val) c.254A>T (p.Asp85Val) c.1325A>T (p.Asp442Val) c.416A>T (p.Asp139Val) | |
6 | g.34856911T>A | CA363739377 | BLTP3A | c.1413T>A (p.Asp471Glu) c.255T>A (p.Asp85Glu) c.1326T>A (p.Asp442Glu) c.417T>A (p.Asp139Glu) | |
6 | g.34856911T>C | CA449919031 | BLTP3A | c.1413T>C (p.Asp471=) c.255T>C (p.Asp85=) c.1326T>C (p.Asp442=) c.417T>C (p.Asp139=) | |
6 | g.34856911T>G | CA363739379 | BLTP3A | c.1413T>G (p.Asp471Glu) c.255T>G (p.Asp85Glu) c.1326T>G (p.Asp442Glu) c.417T>G (p.Asp139Glu) | |
6 | g.34856912G>A | CA3766640 | BLTP3A | c.1414G>A (p.Asp472Asn) c.256G>A (p.Asp86Asn) c.1327G>A (p.Asp443Asn) c.418G>A (p.Asp140Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856912G>C | CA363739386 | BLTP3A | c.1414G>C (p.Asp472His) c.256G>C (p.Asp86His) c.1327G>C (p.Asp443His) c.418G>C (p.Asp140His) | |
6 | g.34856912G= | CA1620651915 | BLTP3A | c.1414G= (p.Asp472=) c.256G= (p.Asp86=) c.1327G= (p.Asp443=) c.418G= (p.Asp140=) | |
6 | g.34856912G>T | CA363739394 | BLTP3A | c.1414G>T (p.Asp472Tyr) c.256G>T (p.Asp86Tyr) c.1327G>T (p.Asp443Tyr) c.418G>T (p.Asp140Tyr) | |
6 | g.34856913A>C | CA363739396 | BLTP3A | c.1415A>C (p.Asp472Ala) c.257A>C (p.Asp86Ala) c.1328A>C (p.Asp443Ala) c.419A>C (p.Asp140Ala) | |
6 | g.34856913A>G | CA363739398 | BLTP3A | c.1415A>G (p.Asp472Gly) c.257A>G (p.Asp86Gly) c.1328A>G (p.Asp443Gly) c.419A>G (p.Asp140Gly) | |
6 | g.34856913A>T | CA363739399 | BLTP3A | c.1415A>T (p.Asp472Val) c.257A>T (p.Asp86Val) c.1328A>T (p.Asp443Val) c.419A>T (p.Asp140Val) | |
6 | g.34856914C>A | CA363739403 | BLTP3A | c.1416C>A (p.Asp472Glu) c.258C>A (p.Asp86Glu) c.1329C>A (p.Asp443Glu) c.420C>A (p.Asp140Glu) | |
6 | g.34856914C= | CA1620651916 | BLTP3A | c.1416C= (p.Asp472=) c.258C= (p.Asp86=) c.1329C= (p.Asp443=) c.420C= (p.Asp140=) | |
6 | g.34856914C>G | CA3766641 | BLTP3A | c.1416C>G (p.Asp472Glu) c.258C>G (p.Asp86Glu) c.1329C>G (p.Asp443Glu) c.420C>G (p.Asp140Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856914C>T | CA449919050 | BLTP3A | c.1416C>T (p.Asp472=) c.258C>T (p.Asp86=) c.1329C>T (p.Asp443=) c.420C>T (p.Asp140=) | gnomAD v4 |
6 | g.34856915C>A | CA363739406 | BLTP3A | c.1417C>A (p.Leu473Met) c.259C>A (p.Leu87Met) c.1330C>A (p.Leu444Met) c.421C>A (p.Leu141Met) | |
6 | g.34856915C= | CA1620651917 | BLTP3A | c.1417C= (p.Leu473=) c.259C= (p.Leu87=) c.1330C= (p.Leu444=) c.421C= (p.Leu141=) | |
6 | g.34856915C>G | CA363739408 | BLTP3A | c.1417C>G (p.Leu473Val) c.259C>G (p.Leu87Val) c.1330C>G (p.Leu444Val) c.421C>G (p.Leu141Val) | dbSNP |
6 | g.34856915C>T | CA3766642 | BLTP3A | c.1417C>T (p.Leu473=) c.259C>T (p.Leu87=) c.1330C>T (p.Leu444=) c.421C>T (p.Leu141=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856916T>A | CA363739413 | BLTP3A | c.1418T>A (p.Leu473Gln) c.260T>A (p.Leu87Gln) c.1331T>A (p.Leu444Gln) c.422T>A (p.Leu141Gln) | |
6 | g.34856916T>C | CA363739414 | BLTP3A | c.1418T>C (p.Leu473Pro) c.260T>C (p.Leu87Pro) c.1331T>C (p.Leu444Pro) c.422T>C (p.Leu141Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.34856916T>G | CA363739412 | BLTP3A | c.1418T>G (p.Leu473Arg) c.260T>G (p.Leu87Arg) c.1331T>G (p.Leu444Arg) c.422T>G (p.Leu141Arg) | |
6 | g.34856916T= | CA1620651918 | BLTP3A | c.1418T= (p.Leu473=) c.260T= (p.Leu87=) c.1331T= (p.Leu444=) c.422T= (p.Leu141=) | |
6 | g.34856917G>A | CA449919057 | BLTP3A | c.1419G>A (p.Leu473=) c.261G>A (p.Leu87=) c.1332G>A (p.Leu444=) c.423G>A (p.Leu141=) | |
6 | g.34856917G>C | CA449919059 | BLTP3A | c.1419G>C (p.Leu473=) c.261G>C (p.Leu87=) c.1332G>C (p.Leu444=) c.423G>C (p.Leu141=) | |
6 | g.34856917G>T | CA449919060 | BLTP3A | c.1419G>T (p.Leu473=) c.261G>T (p.Leu87=) c.1332G>T (p.Leu444=) c.423G>T (p.Leu141=) | |
6 | g.34856918G>A | CA363739415 | BLTP3A | c.1420G>A (p.Asp474Asn) c.262G>A (p.Asp88Asn) c.1333G>A (p.Asp445Asn) c.424G>A (p.Asp142Asn) | |
6 | g.34856918G>C | CA363739417 | BLTP3A | c.1420G>C (p.Asp474His) c.262G>C (p.Asp88His) c.1333G>C (p.Asp445His) c.424G>C (p.Asp142His) | dbSNP gnomAD v2 |
6 | g.34856918G= | CA1620651919 | BLTP3A | c.1420G= (p.Asp474=) c.262G= (p.Asp88=) c.1333G= (p.Asp445=) c.424G= (p.Asp142=) | |
6 | g.34856918G>T | CA363739418 | BLTP3A | c.1420G>T (p.Asp474Tyr) c.262G>T (p.Asp88Tyr) c.1333G>T (p.Asp445Tyr) c.424G>T (p.Asp142Tyr) | |
6 | g.34856919A>C | CA363739419 | BLTP3A | c.1421A>C (p.Asp474Ala) c.263A>C (p.Asp88Ala) c.1334A>C (p.Asp445Ala) c.425A>C (p.Asp142Ala) | |
6 | g.34856919A>G | CA363739420 | BLTP3A | c.1421A>G (p.Asp474Gly) c.263A>G (p.Asp88Gly) c.1334A>G (p.Asp445Gly) c.425A>G (p.Asp142Gly) | |
6 | g.34856919A>T | CA363739422 | BLTP3A | c.1421A>T (p.Asp474Val) c.263A>T (p.Asp88Val) c.1334A>T (p.Asp445Val) c.425A>T (p.Asp142Val) | |
6 | g.34856920C>A | CA363739424 | BLTP3A | c.1422C>A (p.Asp474Glu) c.264C>A (p.Asp88Glu) c.1335C>A (p.Asp445Glu) c.426C>A (p.Asp142Glu) | |
6 | g.34856920C>G | CA363739426 | BLTP3A | c.1422C>G (p.Asp474Glu) c.264C>G (p.Asp88Glu) c.1335C>G (p.Asp445Glu) c.426C>G (p.Asp142Glu) | |
6 | g.34856920C>T | CA449919072 | BLTP3A | c.1422C>T (p.Asp474=) c.264C>T (p.Asp88=) c.1335C>T (p.Asp445=) c.426C>T (p.Asp142=) | |
6 | g.34856921A>C | CA363739427 | BLTP3A | c.1423A>C (p.Ile475Leu) c.265A>C (p.Ile89Leu) c.1336A>C (p.Ile446Leu) c.427A>C (p.Ile143Leu) | |
6 | g.34856921A>G | CA363739429 | BLTP3A | c.1423A>G (p.Ile475Val) c.265A>G (p.Ile89Val) c.1336A>G (p.Ile446Val) c.427A>G (p.Ile143Val) | |
6 | g.34856921A>T | CA363739431 | BLTP3A | c.1423A>T (p.Ile475Phe) c.265A>T (p.Ile89Phe) c.1336A>T (p.Ile446Phe) c.427A>T (p.Ile143Phe) | |
6 | g.34856922T>A | CA363739433 | BLTP3A | c.1424T>A (p.Ile475Asn) c.266T>A (p.Ile89Asn) c.1337T>A (p.Ile446Asn) c.428T>A (p.Ile143Asn) | |
6 | g.34856922T>C | CA363739435 | BLTP3A | c.1424T>C (p.Ile475Thr) c.266T>C (p.Ile89Thr) c.1337T>C (p.Ile446Thr) c.428T>C (p.Ile143Thr) | |
6 | g.34856922T>G | CA363739437 | BLTP3A | c.1424T>G (p.Ile475Ser) c.266T>G (p.Ile89Ser) c.1337T>G (p.Ile446Ser) c.428T>G (p.Ile143Ser) | |
6 | g.34856923C>A | CA449919082 | BLTP3A | c.1425C>A (p.Ile475=) c.267C>A (p.Ile89=) c.1338C>A (p.Ile446=) c.429C>A (p.Ile143=) | |
6 | g.34856923C>G | CA363739438 | BLTP3A | c.1425C>G (p.Ile475Met) c.267C>G (p.Ile89Met) c.1338C>G (p.Ile446Met) c.429C>G (p.Ile143Met) | |
6 | g.34856923C>T | CA449919085 | BLTP3A | c.1425C>T (p.Ile475=) c.267C>T (p.Ile89=) c.1338C>T (p.Ile446=) c.429C>T (p.Ile143=) | |
6 | g.34856924C>A | CA363739443 | BLTP3A | c.1426C>A (p.His476Asn) c.268C>A (p.His90Asn) c.1339C>A (p.His447Asn) c.430C>A (p.His144Asn) | gnomAD v4 |
6 | g.34856924C= | CA1620651920 | BLTP3A | c.1426C= (p.His476=) c.268C= (p.His90=) c.1339C= (p.His447=) c.430C= (p.His144=) | |
6 | g.34856924C>G | CA363739442 | BLTP3A | c.1426C>G (p.His476Asp) c.268C>G (p.His90Asp) c.1339C>G (p.His447Asp) c.430C>G (p.His144Asp) | |
6 | g.34856924C>T | CA3766643 | BLTP3A | c.1426C>T (p.His476Tyr) c.268C>T (p.His90Tyr) c.1339C>T (p.His447Tyr) c.430C>T (p.His144Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.34856925A>C | CA363739444 | BLTP3A | c.1427A>C (p.His476Pro) c.269A>C (p.His90Pro) c.1340A>C (p.His447Pro) c.431A>C (p.His144Pro) | |
6 | g.34856925A>G | CA363739446 | BLTP3A | c.1427A>G (p.His476Arg) c.269A>G (p.His90Arg) c.1340A>G (p.His447Arg) c.431A>G (p.His144Arg) | |
6 | g.34856925A>T | CA363739445 | BLTP3A | c.1427A>T (p.His476Leu) c.269A>T (p.His90Leu) c.1340A>T (p.His447Leu) c.431A>T (p.His144Leu) | |
6 | g.34856926C>A | CA363739447 | BLTP3A | c.1428C>A (p.His476Gln) c.270C>A (p.His90Gln) c.1341C>A (p.His447Gln) c.432C>A (p.His144Gln) | |
6 | g.34856926C>G | CA363739448 | BLTP3A | c.1428C>G (p.His476Gln) c.270C>G (p.His90Gln) c.1341C>G (p.His447Gln) c.432C>G (p.His144Gln) | |
6 | g.34856926C>T | CA449919098 | BLTP3A | c.1428C>T (p.His476=) c.270C>T (p.His90=) c.1341C>T (p.His447=) c.432C>T (p.His144=) | |
6 | g.34856927C>A | CA363739449 | BLTP3A | c.1429C>A (p.Gln477Lys) c.271C>A (p.Gln91Lys) c.1342C>A (p.Gln448Lys) c.433C>A (p.Gln145Lys) | |
6 | g.34856927C= | CA1620651921 | BLTP3A | c.1429C= (p.Gln477=) c.271C= (p.Gln91=) c.1342C= (p.Gln448=) c.433C= (p.Gln145=) | |
6 | g.34856927C>G | CA3766644 | BLTP3A | c.1429C>G (p.Gln477Glu) c.271C>G (p.Gln91Glu) c.1342C>G (p.Gln448Glu) c.433C>G (p.Gln145Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856927C>T | CA363739450 | BLTP3A | c.1429C>T (p.Gln477Ter) c.271C>T (p.Gln91Ter) c.1342C>T (p.Gln448Ter) c.433C>T (p.Gln145Ter) | gnomAD v4 |
6 | g.34856928A>C | CA363739451 | BLTP3A | c.1430A>C (p.Gln477Pro) c.272A>C (p.Gln91Pro) c.1343A>C (p.Gln448Pro) c.434A>C (p.Gln145Pro) | |
6 | g.34856928A>G | CA363739452 | BLTP3A | c.1430A>G (p.Gln477Arg) c.272A>G (p.Gln91Arg) c.1343A>G (p.Gln448Arg) c.434A>G (p.Gln145Arg) | |
6 | g.34856928A>T | CA363739453 | BLTP3A | c.1430A>T (p.Gln477Leu) c.272A>T (p.Gln91Leu) c.1343A>T (p.Gln448Leu) c.434A>T (p.Gln145Leu) | |
6 | g.34856929G>A | CA449919109 | BLTP3A | c.1431G>A (p.Gln477=) c.273G>A (p.Gln91=) c.1344G>A (p.Gln448=) c.435G>A (p.Gln145=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856929G>C | CA363739454 | BLTP3A | c.1431G>C (p.Gln477His) c.273G>C (p.Gln91His) c.1344G>C (p.Gln448His) c.435G>C (p.Gln145His) | |
6 | g.34856929G= | CA1620651922 | BLTP3A | c.1431G= (p.Gln477=) c.273G= (p.Gln91=) c.1344G= (p.Gln448=) c.435G= (p.Gln145=) | |
6 | g.34856929G>T | CA363739455 | BLTP3A | c.1431G>T (p.Gln477His) c.273G>T (p.Gln91His) c.1344G>T (p.Gln448His) c.435G>T (p.Gln145His) | |
6 | g.34856930G>A | CA363739456 | BLTP3A | c.1431+1G>A (n.1431+1G>A) c.273+1G>A (n.273+1G>A) c.1344+1G>A (n.1344+1G>A) c.435+1G>A (n.435+1G>A) | |
6 | g.34856930G>C | CA363739457 | BLTP3A | c.1431+1G>C (n.1431+1G>C) c.273+1G>C (n.273+1G>C) c.1344+1G>C (n.1344+1G>C) c.435+1G>C (n.435+1G>C) | |
6 | g.34856930G>T | CA363739458 | BLTP3A | c.1431+1G>T (n.1431+1G>T) c.273+1G>T (n.273+1G>T) c.1344+1G>T (n.1344+1G>T) c.435+1G>T (n.435+1G>T) | |
6 | g.34856931T>A | CA363739459 | BLTP3A | c.1431+2T>A (n.1431+2T>A) c.273+2T>A (n.273+2T>A) c.1344+2T>A (n.1344+2T>A) c.435+2T>A (n.435+2T>A) | |
6 | g.34856931T>C | CA363739460 | BLTP3A | c.1431+2T>C (n.1431+2T>C) c.273+2T>C (n.273+2T>C) c.1344+2T>C (n.1344+2T>C) c.435+2T>C (n.435+2T>C) | |
6 | g.34856931T>G | CA363739461 | BLTP3A | c.1431+2T>G (n.1431+2T>G) c.273+2T>G (n.273+2T>G) c.1344+2T>G (n.1344+2T>G) c.435+2T>G (n.435+2T>G) | |
6 | g.34856934G>A | CA2526572030 | BLTP3A | c.1431+5G>A (n.1431+5G>A) c.273+5G>A (n.273+5G>A) c.1344+5G>A (n.1344+5G>A) c.435+5G>A (n.435+5G>A) | gnomAD v4 |
6 | g.34856934G= | CA1620651923 | BLTP3A | c.1431+5G= (n.1431+5G=) c.273+5G= (n.273+5G=) c.1344+5G= (n.1344+5G=) c.435+5G= (n.435+5G=) | |
6 | g.34856934G>T | CA1620651924 | BLTP3A | c.1431+5G>T (n.1431+5G>T) c.273+5G>T (n.273+5G>T) c.1344+5G>T (n.1344+5G>T) c.435+5G>T (n.435+5G>T) | dbSNP |
6 | g.34856936A>C | CA2678364170 | BLTP3A | c.1431+7A>C (n.1431+7A>C) c.273+7A>C (n.273+7A>C) c.1344+7A>C (n.1344+7A>C) c.435+7A>C (n.435+7A>C) | gnomAD v4 |
6 | g.34856938A= | CA1620651925 | BLTP3A | c.1431+9A= (n.1431+9A=) c.273+9A= (n.273+9A=) c.1344+9A= (n.1344+9A=) c.435+9A= (n.435+9A=) | |
6 | g.34856938A>G | CA3766645 | BLTP3A | c.1431+9A>G (n.1431+9A>G) c.273+9A>G (n.273+9A>G) c.1344+9A>G (n.1344+9A>G) c.435+9A>G (n.435+9A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856938A>T | CA3766646 | BLTP3A | c.1431+9A>T (n.1431+9A>T) c.273+9A>T (n.273+9A>T) c.1344+9A>T (n.1344+9A>T) c.435+9A>T (n.435+9A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856939del | CA2678364171 | BLTP3A | c.1431+10del (n.1431+10del) c.273+10del (n.273+10del) c.1344+10del (n.1344+10del) c.435+10del (n.435+10del) | gnomAD v4 |
6 | g.34856941A>G | CA2678364172 | BLTP3A | c.1431+12A>G (n.1431+12A>G) c.273+12A>G (n.273+12A>G) c.1344+12A>G (n.1344+12A>G) c.435+12A>G (n.435+12A>G) | dbSNP gnomAD v4 |
6 | g.34856942G>A | CA566464625 | BLTP3A | c.1431+13G>A (n.1431+13G>A) c.273+13G>A (n.273+13G>A) c.1344+13G>A (n.1344+13G>A) c.435+13G>A (n.435+13G>A) | dbSNP gnomAD v2 |
6 | g.34856942G= | CA1620651926 | BLTP3A | c.1431+13G= (n.1431+13G=) c.273+13G= (n.273+13G=) c.1344+13G= (n.1344+13G=) c.435+13G= (n.435+13G=) | |
6 | g.34856943G>A | CA824169186 | BLTP3A | c.1431+14G>A (n.1431+14G>A) c.273+14G>A (n.273+14G>A) c.1344+14G>A (n.1344+14G>A) c.435+14G>A (n.435+14G>A) | dbSNP gnomAD v4 |
6 | g.34856943G= | CA1620651927 | BLTP3A | c.1431+14G= (n.1431+14G=) c.273+14G= (n.273+14G=) c.1344+14G= (n.1344+14G=) c.435+14G= (n.435+14G=) | |
6 | g.34856943G>T | CA2678364173 | BLTP3A | c.1431+14G>T (n.1431+14G>T) c.273+14G>T (n.273+14G>T) c.1344+14G>T (n.1344+14G>T) c.435+14G>T (n.435+14G>T) | gnomAD v4 |
6 | g.34856949T>C | CA3766647 | BLTP3A | c.1431+20T>C (n.1431+20T>C) c.273+20T>C (n.273+20T>C) c.1344+20T>C (n.1344+20T>C) c.435+20T>C (n.435+20T>C) | dbSNP ExAC gnomAD v4 |
6 | g.34856949T= | CA1620651928 | BLTP3A | c.1431+20T= (n.1431+20T=) c.273+20T= (n.273+20T=) c.1344+20T= (n.1344+20T=) c.435+20T= (n.435+20T=) | |
6 | g.34856951G>A | CA1620651930 | BLTP3A | c.1431+22G>A (n.1431+22G>A) c.273+22G>A (n.273+22G>A) c.1344+22G>A (n.1344+22G>A) c.435+22G>A (n.435+22G>A) | dbSNP |
6 | g.34856951G= | CA1620651929 | BLTP3A | c.1431+22G= (n.1431+22G=) c.273+22G= (n.273+22G=) c.1344+22G= (n.1344+22G=) c.435+22G= (n.435+22G=) | |
6 | g.34856951G>T | CA3766648 | BLTP3A | c.1431+22G>T (n.1431+22G>T) c.273+22G>T (n.273+22G>T) c.1344+22G>T (n.1344+22G>T) c.435+22G>T (n.435+22G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856953T>G | CA566464626 | BLTP3A | c.1431+24T>G (n.1431+24T>G) c.273+24T>G (n.273+24T>G) c.1344+24T>G (n.1344+24T>G) c.435+24T>G (n.435+24T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.34856953T= | CA1620651931 | BLTP3A | c.1431+24T= (n.1431+24T=) c.273+24T= (n.273+24T=) c.1344+24T= (n.1344+24T=) c.435+24T= (n.435+24T=) | |
6 | g.34856954G>A | CA1620651933 | BLTP3A | c.1431+25G>A (n.1431+25G>A) c.273+25G>A (n.273+25G>A) c.1344+25G>A (n.1344+25G>A) c.435+25G>A (n.435+25G>A) | dbSNP |
6 | g.34856954G= | CA1620651932 | BLTP3A | c.1431+25G= (n.1431+25G=) c.273+25G= (n.273+25G=) c.1344+25G= (n.1344+25G=) c.435+25G= (n.435+25G=) | |
6 | g.34856954G>T | CA3766649 | BLTP3A | c.1431+25G>T (n.1431+25G>T) c.273+25G>T (n.273+25G>T) c.1344+25G>T (n.1344+25G>T) c.435+25G>T (n.435+25G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.34856955G= | CA1620651934 | BLTP3A | c.1431+26G= (n.1431+26G=) c.273+26G= (n.273+26G=) c.1344+26G= (n.1344+26G=) c.435+26G= (n.435+26G=) | |
6 | g.34856955G>T | CA2678364174 | BLTP3A | c.1431+26G>T (n.1431+26G>T) c.273+26G>T (n.273+26G>T) c.1344+26G>T (n.1344+26G>T) c.435+26G>T (n.435+26G>T) | gnomAD v4 |
6 | g.34856958dup | CA566464627 | BLTP3A | c.1431+29dup (n.1431+29dup) c.273+29dup (n.273+29dup) c.1344+29dup (n.1344+29dup) c.435+29dup (n.435+29dup) | dbSNP gnomAD v2 |
6 | g.34856958A= | CA1620651935 | BLTP3A | c.1431+29A= (n.1431+29A=) c.273+29A= (n.273+29A=) c.1344+29A= (n.1344+29A=) c.435+29A= (n.435+29A=) | |
6 | g.34856958A>C | CA1620651936 | BLTP3A | c.1431+29A>C (n.1431+29A>C) c.273+29A>C (n.273+29A>C) c.1344+29A>C (n.1344+29A>C) c.435+29A>C (n.435+29A>C) | dbSNP |
6 | g.34856958A>G | CA2678364175 | BLTP3A | c.1431+29A>G (n.1431+29A>G) c.273+29A>G (n.273+29A>G) c.1344+29A>G (n.1344+29A>G) c.435+29A>G (n.435+29A>G) | gnomAD v4 |
6 | g.34856959G>A | CA1620651938 | BLTP3A | c.1431+30G>A (n.1431+30G>A) c.273+30G>A (n.273+30G>A) c.1344+30G>A (n.1344+30G>A) c.435+30G>A (n.435+30G>A) | dbSNP |
6 | g.34856959G= | CA1620651937 | BLTP3A | c.1431+30G= (n.1431+30G=) c.273+30G= (n.273+30G=) c.1344+30G= (n.1344+30G=) c.435+30G= (n.435+30G=) |