Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
9g.36222881A>CCA373426442CLTA,GNEc.1622T>G (p.Leu541Arg)
c.1352T>G (p.Leu451Arg)
c.1529T>G (p.Leu510Arg)
c.1411+492T>G (n.1411+492T>G)
c.485+18702A>C (n.485+18702A>C)
c.1199T>G (p.Leu400Arg)
c.1514T>G (p.Leu505Arg)
c.1469T>G (p.Leu490Arg)
c.1376T>G (p.Leu459Arg)
9g.36222881A>GCA373426444CLTA,GNEc.1622T>C (p.Leu541Pro)
c.1352T>C (p.Leu451Pro)
c.1529T>C (p.Leu510Pro)
c.1411+492T>C (n.1411+492T>C)
c.485+18702A>G (n.485+18702A>G)
c.1199T>C (p.Leu400Pro)
c.1514T>C (p.Leu505Pro)
c.1469T>C (p.Leu490Pro)
c.1376T>C (p.Leu459Pro)
9g.36222881A>TCA373426446CLTA,GNEc.1622T>A (p.Leu541His)
c.1352T>A (p.Leu451His)
c.1529T>A (p.Leu510His)
c.1411+492T>A (n.1411+492T>A)
c.485+18702A>T (n.485+18702A>T)
c.1199T>A (p.Leu400His)
c.1514T>A (p.Leu505His)
c.1469T>A (p.Leu490His)
c.1376T>A (p.Leu459His)
9g.36222881_36222883delCA588147071CLTA,GNEc.1620_1622del (p.Leu541del)
c.1350_1352del (p.Leu451del)
c.1527_1529del (p.Leu510del)
c.1411+490_1411+492del (n.1411+490_1411+492del)
c.485+18702_485+18704del (n.485+18702_485+18704del)
c.1197_1199del (p.Leu400del)
c.1512_1514del (p.Leu505del)
c.1467_1469del (p.Leu490del)
c.1374_1376del (p.Leu459del)
 dbSNP gnomAD v2 gnomAD v4
9g.36222881_36222910delinsTCA645369446CLTA,GNEc.1593_1622delinsA (p.Arg532ProfsTer7)
c.1323_1352delinsA (p.Arg442ProfsTer7)
c.1500_1529delinsA (p.Arg501ProfsTer7)
c.1411+463_1411+492delinsA (n.1411+463_1411+492delinsA)
c.485+18702_485+18731delinsT (n.485+18702_485+18731delinsT)
c.1170_1199delinsA (p.Arg391ProfsTer7)
c.1485_1514delinsA (p.Arg496ProfsTer7)
c.1440_1469delinsA (p.Arg481ProfsTer7)
c.1347_1376delinsA (p.Arg450ProfsTer7)
 ClinVar dbSNP
9g.36222882_36222910delCA2573144642CLTA,GNEc.1594_1622del (p.Arg532ProfsTer7)
c.1324_1352del (p.Arg442ProfsTer7)
c.1501_1529del (p.Arg501ProfsTer7)
c.1411+464_1411+492del (n.1411+464_1411+492del)
c.485+18703_485+18731del (n.485+18703_485+18731del)
c.1171_1199del (p.Arg391ProfsTer7)
c.1486_1514del (p.Arg496ProfsTer7)
c.1441_1469del (p.Arg481ProfsTer7)
c.1348_1376del (p.Arg450ProfsTer7)
 ClinVar dbSNP
9g.36222881_36222882insTCA918447924CLTA,GNEc.1621_1622insA (p.Leu541HisfsTer8)
c.1351_1352insA (p.Leu451HisfsTer8)
c.1528_1529insA (p.Leu510HisfsTer8)
c.1411+491_1411+492insA (n.1411+491_1411+492insA)
c.485+18702_485+18703insT (n.485+18702_485+18703insT)
c.1198_1199insA (p.Leu400HisfsTer8)
c.1513_1514insA (p.Leu505HisfsTer8)
c.1468_1469insA (p.Leu490HisfsTer8)
c.1375_1376insA (p.Leu459HisfsTer8)
 dbSNP
9g.36222882G>ACA373426448CLTA,GNEc.1621C>T (p.Leu541Phe)
c.1351C>T (p.Leu451Phe)
c.1528C>T (p.Leu510Phe)
c.1411+491C>T (n.1411+491C>T)
c.485+18703G>A (n.485+18703G>A)
c.1198C>T (p.Leu400Phe)
c.1513C>T (p.Leu505Phe)
c.1468C>T (p.Leu490Phe)
c.1375C>T (p.Leu459Phe)
9g.36222882G>CCA373426451CLTA,GNEc.1621C>G (p.Leu541Val)
c.1351C>G (p.Leu451Val)
c.1528C>G (p.Leu510Val)
c.1411+491C>G (n.1411+491C>G)
c.485+18703G>C (n.485+18703G>C)
c.1198C>G (p.Leu400Val)
c.1513C>G (p.Leu505Val)
c.1468C>G (p.Leu490Val)
c.1375C>G (p.Leu459Val)
9g.36222882G>TCA373426452CLTA,GNEc.1621C>A (p.Leu541Ile)
c.1351C>A (p.Leu451Ile)
c.1528C>A (p.Leu510Ile)
c.1411+491C>A (n.1411+491C>A)
c.485+18703G>T (n.485+18703G>T)
c.1198C>A (p.Leu400Ile)
c.1513C>A (p.Leu505Ile)
c.1468C>A (p.Leu490Ile)
c.1375C>A (p.Leu459Ile)
9g.36222883A>CCA373426455CLTA,GNEc.1620T>G (p.His540Gln)
c.1350T>G (p.His450Gln)
c.1527T>G (p.His509Gln)
c.1411+490T>G (n.1411+490T>G)
c.485+18704A>C (n.485+18704A>C)
c.1197T>G (p.His399Gln)
c.1512T>G (p.His504Gln)
c.1467T>G (p.His489Gln)
c.1374T>G (p.His458Gln)
9g.36222883A>GCA464495212CLTA,GNEc.1620T>C (p.His540=)
c.1350T>C (p.His450=)
c.1527T>C (p.His509=)
c.1411+490T>C (n.1411+490T>C)
c.485+18704A>G (n.485+18704A>G)
c.1197T>C (p.His399=)
c.1512T>C (p.His504=)
c.1467T>C (p.His489=)
c.1374T>C (p.His458=)
9g.36222883A>TCA373426453CLTA,GNEc.1620T>A (p.His540Gln)
c.1350T>A (p.His450Gln)
c.1527T>A (p.His509Gln)
c.1411+490T>A (n.1411+490T>A)
c.485+18704A>T (n.485+18704A>T)
c.1197T>A (p.His399Gln)
c.1512T>A (p.His504Gln)
c.1467T>A (p.His489Gln)
c.1374T>A (p.His458Gln)
9g.36222884T>ACA373426457CLTA,GNEc.1619A>T (p.His540Leu)
c.1349A>T (p.His450Leu)
c.1526A>T (p.His509Leu)
c.1411+489A>T (n.1411+489A>T)
c.485+18705T>A (n.485+18705T>A)
c.1196A>T (p.His399Leu)
c.1511A>T (p.His504Leu)
c.1466A>T (p.His489Leu)
c.1373A>T (p.His458Leu)
9g.36222884T>CCA5056470CLTA,GNEc.1619A>G (p.His540Arg)
c.1349A>G (p.His450Arg)
c.1526A>G (p.His509Arg)
c.1411+489A>G (n.1411+489A>G)
c.485+18705T>C (n.485+18705T>C)
c.1196A>G (p.His399Arg)
c.1511A>G (p.His504Arg)
c.1466A>G (p.His489Arg)
c.1373A>G (p.His458Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222884T>GCA373426459CLTA,GNEc.1619A>C (p.His540Pro)
c.1349A>C (p.His450Pro)
c.1526A>C (p.His509Pro)
c.1411+489A>C (n.1411+489A>C)
c.485+18705T>G (n.485+18705T>G)
c.1196A>C (p.His399Pro)
c.1511A>C (p.His504Pro)
c.1466A>C (p.His489Pro)
c.1373A>C (p.His458Pro)
 ClinVar dbSNP
9g.36222884T=CA1846333518CLTA,GNEc.1619A= (p.His540=)
c.1349A= (p.His450=)
c.1526A= (p.His509=)
c.1411+489A= (n.1411+489A=)
c.485+18705T= (n.485+18705T=)
c.1196A= (p.His399=)
c.1511A= (p.His504=)
c.1466A= (p.His489=)
c.1373A= (p.His458=)
9g.36222884_36222910delinsTGCAAAGTGTCAGAAAGGGGGGTCCTACA1846333519CLTA,GNEc.1593_1619delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu531=)
c.1323_1349delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu441=)
c.1500_1526delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu500=)
c.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA (n.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA)
c.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA)
c.1170_1196delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu390=)
c.1485_1511delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu495=)
c.1440_1466delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu480=)
c.1347_1373delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu449=)
9g.36222885G>ACA5056471CLTA,GNEc.1618C>T (p.His540Tyr)
c.1348C>T (p.His450Tyr)
c.1525C>T (p.His509Tyr)
c.1411+488C>T (n.1411+488C>T)
c.485+18706G>A (n.485+18706G>A)
c.1195C>T (p.His399Tyr)
c.1510C>T (p.His504Tyr)
c.1465C>T (p.His489Tyr)
c.1372C>T (p.His458Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222885G>CCA373426464CLTA,GNEc.1618C>G (p.His540Asp)
c.1348C>G (p.His450Asp)
c.1525C>G (p.His509Asp)
c.1411+488C>G (n.1411+488C>G)
c.485+18706G>C (n.485+18706G>C)
c.1195C>G (p.His399Asp)
c.1510C>G (p.His504Asp)
c.1465C>G (p.His489Asp)
c.1372C>G (p.His458Asp)
9g.36222885G=CA1846333536CLTA,GNEc.1618C= (p.His540=)
c.1348C= (p.His450=)
c.1525C= (p.His509=)
c.1411+488C= (n.1411+488C=)
c.485+18706G= (n.485+18706G=)
c.1195C= (p.His399=)
c.1510C= (p.His504=)
c.1465C= (p.His489=)
c.1372C= (p.His458=)

Number of alleles fetched