Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36222866_36222869delCA2695206256CLTA,GNEc.1634_1637del (p.Val545AlafsTer?)
c.1364_1367del (p.Val455AlafsTer?)
c.1541_1544del (p.Val514AlafsTer?)
c.1411+504_1411+507del (n.1411+504_1411+507del)
c.485+18687_485+18690del (n.485+18687_485+18690del)
c.1211_1214del (p.Val404AlafsTer?)
c.1526_1529del (p.Val509AlafsTer?)
c.1481_1484del (p.Val494AlafsTer?)
c.1388_1391del (p.Val463AlafsTer?)
9g.36222869A=CA1846333439CLTA,GNEc.1634T= (p.Val545=)
c.1364T= (p.Val455=)
c.1541T= (p.Val514=)
c.1411+504T= (n.1411+504T=)
c.485+18690A= (n.485+18690A=)
c.1211T= (p.Val404=)
c.1526T= (p.Val509=)
c.1481T= (p.Val494=)
c.1388T= (p.Val463=)
9g.36222869A>CCA373426388CLTA,GNEc.1634T>G (p.Val545Gly)
c.1364T>G (p.Val455Gly)
c.1541T>G (p.Val514Gly)
c.1411+504T>G (n.1411+504T>G)
c.485+18690A>C (n.485+18690A>C)
c.1211T>G (p.Val404Gly)
c.1526T>G (p.Val509Gly)
c.1481T>G (p.Val494Gly)
c.1388T>G (p.Val463Gly)
9g.36222869A>GCA373426390CLTA,GNEc.1634T>C (p.Val545Ala)
c.1364T>C (p.Val455Ala)
c.1541T>C (p.Val514Ala)
c.1411+504T>C (n.1411+504T>C)
c.485+18690A>G (n.485+18690A>G)
c.1211T>C (p.Val404Ala)
c.1526T>C (p.Val509Ala)
c.1481T>C (p.Val494Ala)
c.1388T>C (p.Val463Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222869A>TCA373426392CLTA,GNEc.1634T>A (p.Val545Glu)
c.1364T>A (p.Val455Glu)
c.1541T>A (p.Val514Glu)
c.1411+504T>A (n.1411+504T>A)
c.485+18690A>T (n.485+18690A>T)
c.1211T>A (p.Val404Glu)
c.1526T>A (p.Val509Glu)
c.1481T>A (p.Val494Glu)
c.1388T>A (p.Val463Glu)
9g.36222870C>ACA373426397CLTA,GNEc.1633G>T (p.Val545Leu)
c.1363G>T (p.Val455Leu)
c.1540G>T (p.Val514Leu)
c.1411+503G>T (n.1411+503G>T)
c.485+18691C>A (n.485+18691C>A)
c.1210G>T (p.Val404Leu)
c.1525G>T (p.Val509Leu)
c.1480G>T (p.Val494Leu)
c.1387G>T (p.Val463Leu)
9g.36222870C>GCA373426396CLTA,GNEc.1633G>C (p.Val545Leu)
c.1363G>C (p.Val455Leu)
c.1540G>C (p.Val514Leu)
c.1411+503G>C (n.1411+503G>C)
c.485+18691C>G (n.485+18691C>G)
c.1210G>C (p.Val404Leu)
c.1525G>C (p.Val509Leu)
c.1480G>C (p.Val494Leu)
c.1387G>C (p.Val463Leu)
9g.36222870C>TCA373426394CLTA,GNEc.1633G>A (p.Val545Ile)
c.1363G>A (p.Val455Ile)
c.1540G>A (p.Val514Ile)
c.1411+503G>A (n.1411+503G>A)
c.485+18691C>T (n.485+18691C>T)
c.1210G>A (p.Val404Ile)
c.1525G>A (p.Val509Ile)
c.1480G>A (p.Val494Ile)
c.1387G>A (p.Val463Ile)
9g.36222871C>ACA373426399CLTA,GNEc.1632G>T (p.Trp544Cys)
c.1362G>T (p.Trp454Cys)
c.1539G>T (p.Trp513Cys)
c.1411+502G>T (n.1411+502G>T)
c.485+18692C>A (n.485+18692C>A)
c.1209G>T (p.Trp403Cys)
c.1524G>T (p.Trp508Cys)
c.1479G>T (p.Trp493Cys)
c.1386G>T (p.Trp462Cys)
9g.36222871C=CA1846333443CLTA,GNEc.1632G= (p.Trp544=)
c.1362G= (p.Trp454=)
c.1539G= (p.Trp513=)
c.1411+502G= (n.1411+502G=)
c.485+18692C= (n.485+18692C=)
c.1209G= (p.Trp403=)
c.1524G= (p.Trp508=)
c.1479G= (p.Trp493=)
c.1386G= (p.Trp462=)
9g.36222871C>GCA373426401CLTA,GNEc.1632G>C (p.Trp544Cys)
c.1362G>C (p.Trp454Cys)
c.1539G>C (p.Trp513Cys)
c.1411+502G>C (n.1411+502G>C)
c.485+18692C>G (n.485+18692C>G)
c.1209G>C (p.Trp403Cys)
c.1524G>C (p.Trp508Cys)
c.1479G>C (p.Trp493Cys)
c.1386G>C (p.Trp462Cys)
9g.36222871C>TCA373426403CLTA,GNEc.1632G>A (p.Trp544Ter)
c.1362G>A (p.Trp454Ter)
c.1539G>A (p.Trp513Ter)
c.1411+502G>A (n.1411+502G>A)
c.485+18692C>T (n.485+18692C>T)
c.1209G>A (p.Trp403Ter)
c.1524G>A (p.Trp508Ter)
c.1479G>A (p.Trp493Ter)
c.1386G>A (p.Trp462Ter)
ClinVar dbSNP gnomAD v4
9g.36222872C>ACA373426404CLTA,GNEc.1631G>T (p.Trp544Leu)
c.1361G>T (p.Trp454Leu)
c.1538G>T (p.Trp513Leu)
c.1411+501G>T (n.1411+501G>T)
c.485+18693C>A (n.485+18693C>A)
c.1208G>T (p.Trp403Leu)
c.1523G>T (p.Trp508Leu)
c.1478G>T (p.Trp493Leu)
c.1385G>T (p.Trp462Leu)
ClinVar dbSNP
9g.36222872C>GCA373426406CLTA,GNEc.1631G>C (p.Trp544Ser)
c.1361G>C (p.Trp454Ser)
c.1538G>C (p.Trp513Ser)
c.1411+501G>C (n.1411+501G>C)
c.485+18693C>G (n.485+18693C>G)
c.1208G>C (p.Trp403Ser)
c.1523G>C (p.Trp508Ser)
c.1478G>C (p.Trp493Ser)
c.1385G>C (p.Trp462Ser)
9g.36222872C>TCA373426408CLTA,GNEc.1631G>A (p.Trp544Ter)
c.1361G>A (p.Trp454Ter)
c.1538G>A (p.Trp513Ter)
c.1411+501G>A (n.1411+501G>A)
c.485+18693C>T (n.485+18693C>T)
c.1208G>A (p.Trp403Ter)
c.1523G>A (p.Trp508Ter)
c.1478G>A (p.Trp493Ter)
c.1385G>A (p.Trp462Ter)
9g.36222873A>CCA373426410CLTA,GNEc.1630T>G (p.Trp544Gly)
c.1360T>G (p.Trp454Gly)
c.1537T>G (p.Trp513Gly)
c.1411+500T>G (n.1411+500T>G)
c.485+18694A>C (n.485+18694A>C)
c.1207T>G (p.Trp403Gly)
c.1522T>G (p.Trp508Gly)
c.1477T>G (p.Trp493Gly)
c.1384T>G (p.Trp462Gly)
9g.36222873A>GCA373426411CLTA,GNEc.1630T>C (p.Trp544Arg)
c.1360T>C (p.Trp454Arg)
c.1537T>C (p.Trp513Arg)
c.1411+500T>C (n.1411+500T>C)
c.485+18694A>G (n.485+18694A>G)
c.1207T>C (p.Trp403Arg)
c.1522T>C (p.Trp508Arg)
c.1477T>C (p.Trp493Arg)
c.1384T>C (p.Trp462Arg)
9g.36222873A>TCA373426413CLTA,GNEc.1630T>A (p.Trp544Arg)
c.1360T>A (p.Trp454Arg)
c.1537T>A (p.Trp513Arg)
c.1411+500T>A (n.1411+500T>A)
c.485+18694A>T (n.485+18694A>T)
c.1207T>A (p.Trp403Arg)
c.1522T>A (p.Trp508Arg)
c.1477T>A (p.Trp493Arg)
c.1384T>A (p.Trp462Arg)
9g.36222874C>ACA464495206CLTA,GNEc.1629G>T (p.Val543=)
c.1359G>T (p.Val453=)
c.1536G>T (p.Val512=)
c.1411+499G>T (n.1411+499G>T)
c.485+18695C>A (n.485+18695C>A)
c.1206G>T (p.Val402=)
c.1521G>T (p.Val507=)
c.1476G>T (p.Val492=)
c.1383G>T (p.Val461=)
9g.36222874C>GCA464495204CLTA,GNEc.1629G>C (p.Val543=)
c.1359G>C (p.Val453=)
c.1536G>C (p.Val512=)
c.1411+499G>C (n.1411+499G>C)
c.485+18695C>G (n.485+18695C>G)
c.1206G>C (p.Val402=)
c.1521G>C (p.Val507=)
c.1476G>C (p.Val492=)
c.1383G>C (p.Val461=)
9g.36222874C>TCA464495205CLTA,GNEc.1629G>A (p.Val543=)
c.1359G>A (p.Val453=)
c.1536G>A (p.Val512=)
c.1411+499G>A (n.1411+499G>A)
c.485+18695C>T (n.485+18695C>T)
c.1206G>A (p.Val402=)
c.1521G>A (p.Val507=)
c.1476G>A (p.Val492=)
c.1383G>A (p.Val461=)
gnomAD v4
9g.36222875A>CCA373426415CLTA,GNEc.1628T>G (p.Val543Gly)
c.1358T>G (p.Val453Gly)
c.1535T>G (p.Val512Gly)
c.1411+498T>G (n.1411+498T>G)
c.485+18696A>C (n.485+18696A>C)
c.1205T>G (p.Val402Gly)
c.1520T>G (p.Val507Gly)
c.1475T>G (p.Val492Gly)
c.1382T>G (p.Val461Gly)
9g.36222875A>GCA373426416CLTA,GNEc.1628T>C (p.Val543Ala)
c.1358T>C (p.Val453Ala)
c.1535T>C (p.Val512Ala)
c.1411+498T>C (n.1411+498T>C)
c.485+18696A>G (n.485+18696A>G)
c.1205T>C (p.Val402Ala)
c.1520T>C (p.Val507Ala)
c.1475T>C (p.Val492Ala)
c.1382T>C (p.Val461Ala)
9g.36222875A>TCA373426418CLTA,GNEc.1628T>A (p.Val543Glu)
c.1358T>A (p.Val453Glu)
c.1535T>A (p.Val512Glu)
c.1411+498T>A (n.1411+498T>A)
c.485+18696A>T (n.485+18696A>T)
c.1205T>A (p.Val402Glu)
c.1520T>A (p.Val507Glu)
c.1475T>A (p.Val492Glu)
c.1382T>A (p.Val461Glu)
9g.36222876C>ACA373426423CLTA,GNEc.1627G>T (p.Val543Leu)
c.1357G>T (p.Val453Leu)
c.1534G>T (p.Val512Leu)
c.1411+497G>T (n.1411+497G>T)
c.485+18697C>A (n.485+18697C>A)
c.1204G>T (p.Val402Leu)
c.1519G>T (p.Val507Leu)
c.1474G>T (p.Val492Leu)
c.1381G>T (p.Val461Leu)
ClinVar dbSNP gnomAD v4
9g.36222876C=CA1846333449CLTA,GNEc.1627G= (p.Val543=)
c.1357G= (p.Val453=)
c.1534G= (p.Val512=)
c.1411+497G= (n.1411+497G=)
c.485+18697C= (n.485+18697C=)
c.1204G= (p.Val402=)
c.1519G= (p.Val507=)
c.1474G= (p.Val492=)
c.1381G= (p.Val461=)
9g.36222876C>GCA373426425CLTA,GNEc.1627G>C (p.Val543Leu)
c.1357G>C (p.Val453Leu)
c.1534G>C (p.Val512Leu)
c.1411+497G>C (n.1411+497G>C)
c.485+18697C>G (n.485+18697C>G)
c.1204G>C (p.Val402Leu)
c.1519G>C (p.Val507Leu)
c.1474G>C (p.Val492Leu)
c.1381G>C (p.Val461Leu)
9g.36222876C>TCA373426421CLTA,GNEc.1627G>A (p.Val543Met)
c.1357G>A (p.Val453Met)
c.1534G>A (p.Val512Met)
c.1411+497G>A (n.1411+497G>A)
c.485+18697C>T (n.485+18697C>T)
c.1204G>A (p.Val402Met)
c.1519G>A (p.Val507Met)
c.1474G>A (p.Val492Met)
c.1381G>A (p.Val461Met)
dbSNP gnomAD v4
9g.36222877A=CA1846333461CLTA,GNEc.1626T= (p.Pro542=)
c.1356T= (p.Pro452=)
c.1533T= (p.Pro511=)
c.1411+496T= (n.1411+496T=)
c.485+18698A= (n.485+18698A=)
c.1203T= (p.Pro401=)
c.1518T= (p.Pro506=)
c.1473T= (p.Pro491=)
c.1380T= (p.Pro460=)
9g.36222877A>CCA464495207CLTA,GNEc.1626T>G (p.Pro542=)
c.1356T>G (p.Pro452=)
c.1533T>G (p.Pro511=)
c.1411+496T>G (n.1411+496T>G)
c.485+18698A>C (n.485+18698A>C)
c.1203T>G (p.Pro401=)
c.1518T>G (p.Pro506=)
c.1473T>G (p.Pro491=)
c.1380T>G (p.Pro460=)
9g.36222877A>GCA464495208CLTA,GNEc.1626T>C (p.Pro542=)
c.1356T>C (p.Pro452=)
c.1533T>C (p.Pro511=)
c.1411+496T>C (n.1411+496T>C)
c.485+18698A>G (n.485+18698A>G)
c.1203T>C (p.Pro401=)
c.1518T>C (p.Pro506=)
c.1473T>C (p.Pro491=)
c.1380T>C (p.Pro460=)
9g.36222877A>TCA464495209CLTA,GNEc.1626T>A (p.Pro542=)
c.1356T>A (p.Pro452=)
c.1533T>A (p.Pro511=)
c.1411+496T>A (n.1411+496T>A)
c.485+18698A>T (n.485+18698A>T)
c.1203T>A (p.Pro401=)
c.1518T>A (p.Pro506=)
c.1473T>A (p.Pro491=)
c.1380T>A (p.Pro460=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222877_36222878delCA2579338370CLTA,GNEc.1625_1626del (p.Pro542ArgfsTer6)
c.1355_1356del (p.Pro452ArgfsTer6)
c.1532_1533del (p.Pro511ArgfsTer6)
c.1411+495_1411+496del (n.1411+495_1411+496del)
c.485+18698_485+18699del (n.485+18698_485+18699del)
c.1202_1203del (p.Pro401ArgfsTer6)
c.1517_1518del (p.Pro506ArgfsTer6)
c.1472_1473del (p.Pro491ArgfsTer6)
c.1379_1380del (p.Pro460ArgfsTer6)
gnomAD v4
9g.36222877_36222878delinsAGCA1846333457CLTA,GNEc.1625_1626delinsCT (p.Pro542=)
c.1355_1356delinsCT (p.Pro452=)
c.1532_1533delinsCT (p.Pro511=)
c.1411+495_1411+496delinsCT (n.1411+495_1411+496delinsCT)
c.485+18698_485+18699delinsAG (n.485+18698_485+18699delinsAG)
c.1202_1203delinsCT (p.Pro401=)
c.1517_1518delinsCT (p.Pro506=)
c.1472_1473delinsCT (p.Pro491=)
c.1379_1380delinsCT (p.Pro460=)
9g.36222877_36222878delinsTTCA1846333458CLTA,GNEc.1625_1626delinsAA (p.Pro542Gln)
c.1355_1356delinsAA (p.Pro452Gln)
c.1532_1533delinsAA (p.Pro511Gln)
c.1411+495_1411+496delinsAA (n.1411+495_1411+496delinsAA)
c.485+18698_485+18699delinsTT (n.485+18698_485+18699delinsTT)
c.1202_1203delinsAA (p.Pro401Gln)
c.1517_1518delinsAA (p.Pro506Gln)
c.1472_1473delinsAA (p.Pro491Gln)
c.1379_1380delinsAA (p.Pro460Gln)
ClinVar dbSNP
9g.36222878G>ACA373426428CLTA,GNEc.1625C>T (p.Pro542Leu)
c.1355C>T (p.Pro452Leu)
c.1532C>T (p.Pro511Leu)
c.1411+495C>T (n.1411+495C>T)
c.485+18699G>A (n.485+18699G>A)
c.1202C>T (p.Pro401Leu)
c.1517C>T (p.Pro506Leu)
c.1472C>T (p.Pro491Leu)
c.1379C>T (p.Pro460Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222878G>CCA373426430CLTA,GNEc.1625C>G (p.Pro542Arg)
c.1355C>G (p.Pro452Arg)
c.1532C>G (p.Pro511Arg)
c.1411+495C>G (n.1411+495C>G)
c.485+18699G>C (n.485+18699G>C)
c.1202C>G (p.Pro401Arg)
c.1517C>G (p.Pro506Arg)
c.1472C>G (p.Pro491Arg)
c.1379C>G (p.Pro460Arg)
9g.36222878G=CA1846333472CLTA,GNEc.1625C= (p.Pro542=)
c.1355C= (p.Pro452=)
c.1532C= (p.Pro511=)
c.1411+495C= (n.1411+495C=)
c.485+18699G= (n.485+18699G=)
c.1202C= (p.Pro401=)
c.1517C= (p.Pro506=)
c.1472C= (p.Pro491=)
c.1379C= (p.Pro460=)
9g.36222878G>TCA373426432CLTA,GNEc.1625C>A (p.Pro542His)
c.1355C>A (p.Pro452His)
c.1532C>A (p.Pro511His)
c.1411+495C>A (n.1411+495C>A)
c.485+18699G>T (n.485+18699G>T)
c.1202C>A (p.Pro401His)
c.1517C>A (p.Pro506His)
c.1472C>A (p.Pro491His)
c.1379C>A (p.Pro460His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222879G>ACA192843515CLTA,GNEc.1624C>T (p.Pro542Ser)
c.1354C>T (p.Pro452Ser)
c.1531C>T (p.Pro511Ser)
c.1411+494C>T (n.1411+494C>T)
c.485+18700G>A (n.485+18700G>A)
c.1201C>T (p.Pro401Ser)
c.1516C>T (p.Pro506Ser)
c.1471C>T (p.Pro491Ser)
c.1378C>T (p.Pro460Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36222879G>CCA373426437CLTA,GNEc.1624C>G (p.Pro542Ala)
c.1354C>G (p.Pro452Ala)
c.1531C>G (p.Pro511Ala)
c.1411+494C>G (n.1411+494C>G)
c.485+18700G>C (n.485+18700G>C)
c.1201C>G (p.Pro401Ala)
c.1516C>G (p.Pro506Ala)
c.1471C>G (p.Pro491Ala)
c.1378C>G (p.Pro460Ala)
9g.36222879G=CA1846333486CLTA,GNEc.1624C= (p.Pro542=)
c.1354C= (p.Pro452=)
c.1531C= (p.Pro511=)
c.1411+494C= (n.1411+494C=)
c.485+18700G= (n.485+18700G=)
c.1201C= (p.Pro401=)
c.1516C= (p.Pro506=)
c.1471C= (p.Pro491=)
c.1378C= (p.Pro460=)
9g.36222879G>TCA373426438CLTA,GNEc.1624C>A (p.Pro542Thr)
c.1354C>A (p.Pro452Thr)
c.1531C>A (p.Pro511Thr)
c.1411+494C>A (n.1411+494C>A)
c.485+18700G>T (n.485+18700G>T)
c.1201C>A (p.Pro401Thr)
c.1516C>A (p.Pro506Thr)
c.1471C>A (p.Pro491Thr)
c.1378C>A (p.Pro460Thr)
9g.36222880G>ACA464495211CLTA,GNEc.1623C>T (p.Leu541=)
c.1353C>T (p.Leu451=)
c.1530C>T (p.Leu510=)
c.1411+493C>T (n.1411+493C>T)
c.485+18701G>A (n.485+18701G>A)
c.1200C>T (p.Leu400=)
c.1515C>T (p.Leu505=)
c.1470C>T (p.Leu490=)
c.1377C>T (p.Leu459=)
9g.36222880G>CCA464495210CLTA,GNEc.1623C>G (p.Leu541=)
c.1353C>G (p.Leu451=)
c.1530C>G (p.Leu510=)
c.1411+493C>G (n.1411+493C>G)
c.485+18701G>C (n.485+18701G>C)
c.1200C>G (p.Leu400=)
c.1515C>G (p.Leu505=)
c.1470C>G (p.Leu490=)
c.1377C>G (p.Leu459=)
9g.36222880G=CA1846333495CLTA,GNEc.1623C= (p.Leu541=)
c.1353C= (p.Leu451=)
c.1530C= (p.Leu510=)
c.1411+493C= (n.1411+493C=)
c.485+18701G= (n.485+18701G=)
c.1200C= (p.Leu400=)
c.1515C= (p.Leu505=)
c.1470C= (p.Leu490=)
c.1377C= (p.Leu459=)
9g.36222880G>TCA5056469CLTA,GNEc.1623C>A (p.Leu541=)
c.1353C>A (p.Leu451=)
c.1530C>A (p.Leu510=)
c.1411+493C>A (n.1411+493C>A)
c.485+18701G>T (n.485+18701G>T)
c.1200C>A (p.Leu400=)
c.1515C>A (p.Leu505=)
c.1470C>A (p.Leu490=)
c.1377C>A (p.Leu459=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222880_36222883delinsGAGACA1846333497CLTA,GNEc.1620_1623delinsTCTC (p.His540=)
c.1350_1353delinsTCTC (p.His450=)
c.1527_1530delinsTCTC (p.His509=)
c.1411+490_1411+493delinsTCTC (n.1411+490_1411+493delinsTCTC)
c.485+18701_485+18704delinsGAGA (n.485+18701_485+18704delinsGAGA)
c.1197_1200delinsTCTC (p.His399=)
c.1512_1515delinsTCTC (p.His504=)
c.1467_1470delinsTCTC (p.His489=)
c.1374_1377delinsTCTC (p.His458=)
9g.36222880_36222910delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTACA1846333496CLTA,GNEc.1593_1623delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu531=)
c.1323_1353delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu441=)
c.1500_1530delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu500=)
c.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (n.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC)
c.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA)
c.1170_1200delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu390=)
c.1485_1515delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu495=)
c.1440_1470delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu480=)
c.1347_1377delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu449=)
9g.36222881A=CA1846333509CLTA,GNEc.1622T= (p.Leu541=)
c.1352T= (p.Leu451=)
c.1529T= (p.Leu510=)
c.1411+492T= (n.1411+492T=)
c.485+18702A= (n.485+18702A=)
c.1199T= (p.Leu400=)
c.1514T= (p.Leu505=)
c.1469T= (p.Leu490=)
c.1376T= (p.Leu459=)

Number of alleles fetched