Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115035232A>CCA374626450TNCc.3848T>G (p.Val1283Gly)
c.4670T>G (p.Val1557Gly)
c.2702T>G (p.Val901Gly)
c.1358T>G (p.Val453Gly)
c.4717T>G
c.5759T>G (p.Val1920Gly)
c.5213T>G (p.Val1738Gly)
c.4940T>G (p.Val1647Gly)
n.341T>G
c.1446T>G
c.5486T>G (p.Val1829Gly)
c.4667T>G (p.Val1556Gly)
c.4121T>G (p.Val1374Gly)
c.6035T>G (p.Val2012Gly)
c.5762T>G (p.Val1921Gly)
c.5216T>G (p.Val1739Gly)
c.4943T>G (p.Val1648Gly)
c.4394T>G (p.Val1465Gly)
c.6308T>G (p.Val2103Gly)
c.6032T>G (p.Val2011Gly)
9g.115035232A>GCA374626451TNCc.3848T>C (p.Val1283Ala)
c.4670T>C (p.Val1557Ala)
c.2702T>C (p.Val901Ala)
c.1358T>C (p.Val453Ala)
c.4717T>C
c.5759T>C (p.Val1920Ala)
c.5213T>C (p.Val1738Ala)
c.4940T>C (p.Val1647Ala)
n.341T>C
c.1446T>C
c.5486T>C (p.Val1829Ala)
c.4667T>C (p.Val1556Ala)
c.4121T>C (p.Val1374Ala)
c.6035T>C (p.Val2012Ala)
c.5762T>C (p.Val1921Ala)
c.5216T>C (p.Val1739Ala)
c.4943T>C (p.Val1648Ala)
c.4394T>C (p.Val1465Ala)
c.6308T>C (p.Val2103Ala)
c.6032T>C (p.Val2011Ala)
9g.115035232A>TCA374626452TNCc.3848T>A (p.Val1283Asp)
c.4670T>A (p.Val1557Asp)
c.2702T>A (p.Val901Asp)
c.1358T>A (p.Val453Asp)
c.4717T>A
c.5759T>A (p.Val1920Asp)
c.5213T>A (p.Val1738Asp)
c.4940T>A (p.Val1647Asp)
n.341T>A
c.1446T>A
c.5486T>A (p.Val1829Asp)
c.4667T>A (p.Val1556Asp)
c.4121T>A (p.Val1374Asp)
c.6035T>A (p.Val2012Asp)
c.5762T>A (p.Val1921Asp)
c.5216T>A (p.Val1739Asp)
c.4943T>A (p.Val1648Asp)
c.4394T>A (p.Val1465Asp)
c.6308T>A (p.Val2103Asp)
c.6032T>A (p.Val2011Asp)
9g.115035233C>ACA5207543TNCc.3847G>T (p.Val1283Phe)
c.4669G>T (p.Val1557Phe)
c.2701G>T (p.Val901Phe)
c.1357G>T (p.Val453Phe)
c.4716G>T
c.5758G>T (p.Val1920Phe)
c.5212G>T (p.Val1738Phe)
c.4939G>T (p.Val1647Phe)
n.340G>T
c.1445G>T
c.5485G>T (p.Val1829Phe)
c.4666G>T (p.Val1556Phe)
c.4120G>T (p.Val1374Phe)
c.6034G>T (p.Val2012Phe)
c.5761G>T (p.Val1921Phe)
c.5215G>T (p.Val1739Phe)
c.4942G>T (p.Val1648Phe)
c.4393G>T (p.Val1465Phe)
c.6307G>T (p.Val2103Phe)
c.6031G>T (p.Val2011Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035233C=CA1874113736TNCc.3847G= (p.Val1283=)
c.4669G= (p.Val1557=)
c.2701G= (p.Val901=)
c.1357G= (p.Val453=)
c.4716G=
c.5758G= (p.Val1920=)
c.5212G= (p.Val1738=)
c.4939G= (p.Val1647=)
n.340G=
c.1445G=
c.5485G= (p.Val1829=)
c.4666G= (p.Val1556=)
c.4120G= (p.Val1374=)
c.6034G= (p.Val2012=)
c.5761G= (p.Val1921=)
c.5215G= (p.Val1739=)
c.4942G= (p.Val1648=)
c.4393G= (p.Val1465=)
c.6307G= (p.Val2103=)
c.6031G= (p.Val2011=)
9g.115035233C>GCA374626454TNCc.3847G>C (p.Val1283Leu)
c.4669G>C (p.Val1557Leu)
c.2701G>C (p.Val901Leu)
c.1357G>C (p.Val453Leu)
c.4716G>C
c.5758G>C (p.Val1920Leu)
c.5212G>C (p.Val1738Leu)
c.4939G>C (p.Val1647Leu)
n.340G>C
c.1445G>C
c.5485G>C (p.Val1829Leu)
c.4666G>C (p.Val1556Leu)
c.4120G>C (p.Val1374Leu)
c.6034G>C (p.Val2012Leu)
c.5761G>C (p.Val1921Leu)
c.5215G>C (p.Val1739Leu)
c.4942G>C (p.Val1648Leu)
c.4393G>C (p.Val1465Leu)
c.6307G>C (p.Val2103Leu)
c.6031G>C (p.Val2011Leu)
 dbSNP gnomAD v4
9g.115035233C>TCA374626453TNCc.3847G>A (p.Val1283Ile)
c.4669G>A (p.Val1557Ile)
c.2701G>A (p.Val901Ile)
c.1357G>A (p.Val453Ile)
c.4716G>A
c.5758G>A (p.Val1920Ile)
c.5212G>A (p.Val1738Ile)
c.4939G>A (p.Val1647Ile)
n.340G>A
c.1445G>A
c.5485G>A (p.Val1829Ile)
c.4666G>A (p.Val1556Ile)
c.4120G>A (p.Val1374Ile)
c.6034G>A (p.Val2012Ile)
c.5761G>A (p.Val1921Ile)
c.5215G>A (p.Val1739Ile)
c.4942G>A (p.Val1648Ile)
c.4393G>A (p.Val1465Ile)
c.6307G>A (p.Val2103Ile)
c.6031G>A (p.Val2011Ile)
 gnomAD v4
9g.115035234C>ACA466790014TNCc.3846G>T (p.Leu1282=)
c.4668G>T (p.Leu1556=)
c.2700G>T (p.Leu900=)
c.1356G>T (p.Leu452=)
c.4715G>T
c.5757G>T (p.Leu1919=)
c.5211G>T (p.Leu1737=)
c.4938G>T (p.Leu1646=)
n.339G>T
c.1444G>T
c.5484G>T (p.Leu1828=)
c.4665G>T (p.Leu1555=)
c.4119G>T (p.Leu1373=)
c.6033G>T (p.Leu2011=)
c.5760G>T (p.Leu1920=)
c.5214G>T (p.Leu1738=)
c.4941G>T (p.Leu1647=)
c.4392G>T (p.Leu1464=)
c.6306G>T (p.Leu2102=)
c.6030G>T (p.Leu2010=)
 dbSNP gnomAD v4
9g.115035234C=CA1874113737TNCc.3846G= (p.Leu1282=)
c.4668G= (p.Leu1556=)
c.2700G= (p.Leu900=)
c.1356G= (p.Leu452=)
c.4715G=
c.5757G= (p.Leu1919=)
c.5211G= (p.Leu1737=)
c.4938G= (p.Leu1646=)
n.339G=
c.1444G=
c.5484G= (p.Leu1828=)
c.4665G= (p.Leu1555=)
c.4119G= (p.Leu1373=)
c.6033G= (p.Leu2011=)
c.5760G= (p.Leu1920=)
c.5214G= (p.Leu1738=)
c.4941G= (p.Leu1647=)
c.4392G= (p.Leu1464=)
c.6306G= (p.Leu2102=)
c.6030G= (p.Leu2010=)
9g.115035234C>GCA466790015TNCc.3846G>C (p.Leu1282=)
c.4668G>C (p.Leu1556=)
c.2700G>C (p.Leu900=)
c.1356G>C (p.Leu452=)
c.4715G>C
c.5757G>C (p.Leu1919=)
c.5211G>C (p.Leu1737=)
c.4938G>C (p.Leu1646=)
n.339G>C
c.1444G>C
c.5484G>C (p.Leu1828=)
c.4665G>C (p.Leu1555=)
c.4119G>C (p.Leu1373=)
c.6033G>C (p.Leu2011=)
c.5760G>C (p.Leu1920=)
c.5214G>C (p.Leu1738=)
c.4941G>C (p.Leu1647=)
c.4392G>C (p.Leu1464=)
c.6306G>C (p.Leu2102=)
c.6030G>C (p.Leu2010=)
9g.115035234C>TCA466790016TNCc.3846G>A (p.Leu1282=)
c.4668G>A (p.Leu1556=)
c.2700G>A (p.Leu900=)
c.1356G>A (p.Leu452=)
c.4715G>A
c.5757G>A (p.Leu1919=)
c.5211G>A (p.Leu1737=)
c.4938G>A (p.Leu1646=)
n.339G>A
c.1444G>A
c.5484G>A (p.Leu1828=)
c.4665G>A (p.Leu1555=)
c.4119G>A (p.Leu1373=)
c.6033G>A (p.Leu2011=)
c.5760G>A (p.Leu1920=)
c.5214G>A (p.Leu1738=)
c.4941G>A (p.Leu1647=)
c.4392G>A (p.Leu1464=)
c.6306G>A (p.Leu2102=)
c.6030G>A (p.Leu2010=)
 dbSNP
9g.115035235A>CCA374626455TNCc.3845T>G (p.Leu1282Arg)
c.4667T>G (p.Leu1556Arg)
c.2699T>G (p.Leu900Arg)
c.1355T>G (p.Leu452Arg)
c.4714T>G
c.5756T>G (p.Leu1919Arg)
c.5210T>G (p.Leu1737Arg)
c.4937T>G (p.Leu1646Arg)
n.338T>G
c.1443T>G
c.5483T>G (p.Leu1828Arg)
c.4664T>G (p.Leu1555Arg)
c.4118T>G (p.Leu1373Arg)
c.6032T>G (p.Leu2011Arg)
c.5759T>G (p.Leu1920Arg)
c.5213T>G (p.Leu1738Arg)
c.4940T>G (p.Leu1647Arg)
c.4391T>G (p.Leu1464Arg)
c.6305T>G (p.Leu2102Arg)
c.6029T>G (p.Leu2010Arg)
9g.115035235A>GCA374626456TNCc.3845T>C (p.Leu1282Pro)
c.4667T>C (p.Leu1556Pro)
c.2699T>C (p.Leu900Pro)
c.1355T>C (p.Leu452Pro)
c.4714T>C
c.5756T>C (p.Leu1919Pro)
c.5210T>C (p.Leu1737Pro)
c.4937T>C (p.Leu1646Pro)
n.338T>C
c.1443T>C
c.5483T>C (p.Leu1828Pro)
c.4664T>C (p.Leu1555Pro)
c.4118T>C (p.Leu1373Pro)
c.6032T>C (p.Leu2011Pro)
c.5759T>C (p.Leu1920Pro)
c.5213T>C (p.Leu1738Pro)
c.4940T>C (p.Leu1647Pro)
c.4391T>C (p.Leu1464Pro)
c.6305T>C (p.Leu2102Pro)
c.6029T>C (p.Leu2010Pro)
9g.115035235A>TCA374626457TNCc.3845T>A (p.Leu1282Gln)
c.4667T>A (p.Leu1556Gln)
c.2699T>A (p.Leu900Gln)
c.1355T>A (p.Leu452Gln)
c.4714T>A
c.5756T>A (p.Leu1919Gln)
c.5210T>A (p.Leu1737Gln)
c.4937T>A (p.Leu1646Gln)
n.338T>A
c.1443T>A
c.5483T>A (p.Leu1828Gln)
c.4664T>A (p.Leu1555Gln)
c.4118T>A (p.Leu1373Gln)
c.6032T>A (p.Leu2011Gln)
c.5759T>A (p.Leu1920Gln)
c.5213T>A (p.Leu1738Gln)
c.4940T>A (p.Leu1647Gln)
c.4391T>A (p.Leu1464Gln)
c.6305T>A (p.Leu2102Gln)
c.6029T>A (p.Leu2010Gln)
9g.115035236G>ACA466790017TNCc.3844C>T (p.Leu1282=)
c.4666C>T (p.Leu1556=)
c.2698C>T (p.Leu900=)
c.1354C>T (p.Leu452=)
c.4713C>T
c.5755C>T (p.Leu1919=)
c.5209C>T (p.Leu1737=)
c.4936C>T (p.Leu1646=)
n.337C>T
c.1442C>T
c.5482C>T (p.Leu1828=)
c.4663C>T (p.Leu1555=)
c.4117C>T (p.Leu1373=)
c.6031C>T (p.Leu2011=)
c.5758C>T (p.Leu1920=)
c.5212C>T (p.Leu1738=)
c.4939C>T (p.Leu1647=)
c.4390C>T (p.Leu1464=)
c.6304C>T (p.Leu2102=)
c.6028C>T (p.Leu2010=)
9g.115035236G>CCA374626458TNCc.3844C>G (p.Leu1282Val)
c.4666C>G (p.Leu1556Val)
c.2698C>G (p.Leu900Val)
c.1354C>G (p.Leu452Val)
c.4713C>G
c.5755C>G (p.Leu1919Val)
c.5209C>G (p.Leu1737Val)
c.4936C>G (p.Leu1646Val)
n.337C>G
c.1442C>G
c.5482C>G (p.Leu1828Val)
c.4663C>G (p.Leu1555Val)
c.4117C>G (p.Leu1373Val)
c.6031C>G (p.Leu2011Val)
c.5758C>G (p.Leu1920Val)
c.5212C>G (p.Leu1738Val)
c.4939C>G (p.Leu1647Val)
c.4390C>G (p.Leu1464Val)
c.6304C>G (p.Leu2102Val)
c.6028C>G (p.Leu2010Val)
9g.115035236G>TCA374626459TNCc.3844C>A (p.Leu1282Met)
c.4666C>A (p.Leu1556Met)
c.2698C>A (p.Leu900Met)
c.1354C>A (p.Leu452Met)
c.4713C>A
c.5755C>A (p.Leu1919Met)
c.5209C>A (p.Leu1737Met)
c.4936C>A (p.Leu1646Met)
n.337C>A
c.1442C>A
c.5482C>A (p.Leu1828Met)
c.4663C>A (p.Leu1555Met)
c.4117C>A (p.Leu1373Met)
c.6031C>A (p.Leu2011Met)
c.5758C>A (p.Leu1920Met)
c.5212C>A (p.Leu1738Met)
c.4939C>A (p.Leu1647Met)
c.4390C>A (p.Leu1464Met)
c.6304C>A (p.Leu2102Met)
c.6028C>A (p.Leu2010Met)
9g.115035237C>ACA466790020TNCc.3843G>T (p.Leu1281=)
c.4665G>T (p.Leu1555=)
c.2697G>T (p.Leu899=)
c.1353G>T (p.Leu451=)
c.4712G>T
c.5754G>T (p.Leu1918=)
c.5208G>T (p.Leu1736=)
c.4935G>T (p.Leu1645=)
n.336G>T
c.1441G>T
c.5481G>T (p.Leu1827=)
c.4662G>T (p.Leu1554=)
c.4116G>T (p.Leu1372=)
c.6030G>T (p.Leu2010=)
c.5757G>T (p.Leu1919=)
c.5211G>T (p.Leu1737=)
c.4938G>T (p.Leu1646=)
c.4389G>T (p.Leu1463=)
c.6303G>T (p.Leu2101=)
c.6027G>T (p.Leu2009=)
9g.115035237C>GCA466790018TNCc.3843G>C (p.Leu1281=)
c.4665G>C (p.Leu1555=)
c.2697G>C (p.Leu899=)
c.1353G>C (p.Leu451=)
c.4712G>C
c.5754G>C (p.Leu1918=)
c.5208G>C (p.Leu1736=)
c.4935G>C (p.Leu1645=)
n.336G>C
c.1441G>C
c.5481G>C (p.Leu1827=)
c.4662G>C (p.Leu1554=)
c.4116G>C (p.Leu1372=)
c.6030G>C (p.Leu2010=)
c.5757G>C (p.Leu1919=)
c.5211G>C (p.Leu1737=)
c.4938G>C (p.Leu1646=)
c.4389G>C (p.Leu1463=)
c.6303G>C (p.Leu2101=)
c.6027G>C (p.Leu2009=)
9g.115035237C>TCA466790019TNCc.3843G>A (p.Leu1281=)
c.4665G>A (p.Leu1555=)
c.2697G>A (p.Leu899=)
c.1353G>A (p.Leu451=)
c.4712G>A
c.5754G>A (p.Leu1918=)
c.5208G>A (p.Leu1736=)
c.4935G>A (p.Leu1645=)
n.336G>A
c.1441G>A
c.5481G>A (p.Leu1827=)
c.4662G>A (p.Leu1554=)
c.4116G>A (p.Leu1372=)
c.6030G>A (p.Leu2010=)
c.5757G>A (p.Leu1919=)
c.5211G>A (p.Leu1737=)
c.4938G>A (p.Leu1646=)
c.4389G>A (p.Leu1463=)
c.6303G>A (p.Leu2101=)
c.6027G>A (p.Leu2009=)
9g.115035238A=CA1874113738TNCc.3842T= (p.Leu1281=)
c.4664T= (p.Leu1555=)
c.2696T= (p.Leu899=)
c.1352T= (p.Leu451=)
c.4711T=
c.5753T= (p.Leu1918=)
c.5207T= (p.Leu1736=)
c.4934T= (p.Leu1645=)
n.335T=
c.1440T=
c.5480T= (p.Leu1827=)
c.4661T= (p.Leu1554=)
c.4115T= (p.Leu1372=)
c.6029T= (p.Leu2010=)
c.5756T= (p.Leu1919=)
c.5210T= (p.Leu1737=)
c.4937T= (p.Leu1646=)
c.4388T= (p.Leu1463=)
c.6302T= (p.Leu2101=)
c.6026T= (p.Leu2009=)
9g.115035238A>CCA374626460TNCc.3842T>G (p.Leu1281Arg)
c.4664T>G (p.Leu1555Arg)
c.2696T>G (p.Leu899Arg)
c.1352T>G (p.Leu451Arg)
c.4711T>G
c.5753T>G (p.Leu1918Arg)
c.5207T>G (p.Leu1736Arg)
c.4934T>G (p.Leu1645Arg)
n.335T>G
c.1440T>G
c.5480T>G (p.Leu1827Arg)
c.4661T>G (p.Leu1554Arg)
c.4115T>G (p.Leu1372Arg)
c.6029T>G (p.Leu2010Arg)
c.5756T>G (p.Leu1919Arg)
c.5210T>G (p.Leu1737Arg)
c.4937T>G (p.Leu1646Arg)
c.4388T>G (p.Leu1463Arg)
c.6302T>G (p.Leu2101Arg)
c.6026T>G (p.Leu2009Arg)
9g.115035238A>GCA374626461TNCc.3842T>C (p.Leu1281Pro)
c.4664T>C (p.Leu1555Pro)
c.2696T>C (p.Leu899Pro)
c.1352T>C (p.Leu451Pro)
c.4711T>C
c.5753T>C (p.Leu1918Pro)
c.5207T>C (p.Leu1736Pro)
c.4934T>C (p.Leu1645Pro)
n.335T>C
c.1440T>C
c.5480T>C (p.Leu1827Pro)
c.4661T>C (p.Leu1554Pro)
c.4115T>C (p.Leu1372Pro)
c.6029T>C (p.Leu2010Pro)
c.5756T>C (p.Leu1919Pro)
c.5210T>C (p.Leu1737Pro)
c.4937T>C (p.Leu1646Pro)
c.4388T>C (p.Leu1463Pro)
c.6302T>C (p.Leu2101Pro)
c.6026T>C (p.Leu2009Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115035238A>TCA374626462TNCc.3842T>A (p.Leu1281Gln)
c.4664T>A (p.Leu1555Gln)
c.2696T>A (p.Leu899Gln)
c.1352T>A (p.Leu451Gln)
c.4711T>A
c.5753T>A (p.Leu1918Gln)
c.5207T>A (p.Leu1736Gln)
c.4934T>A (p.Leu1645Gln)
n.335T>A
c.1440T>A
c.5480T>A (p.Leu1827Gln)
c.4661T>A (p.Leu1554Gln)
c.4115T>A (p.Leu1372Gln)
c.6029T>A (p.Leu2010Gln)
c.5756T>A (p.Leu1919Gln)
c.5210T>A (p.Leu1737Gln)
c.4937T>A (p.Leu1646Gln)
c.4388T>A (p.Leu1463Gln)
c.6302T>A (p.Leu2101Gln)
c.6026T>A (p.Leu2009Gln)
9g.115035239G>ACA466790021TNCc.3841C>T (p.Leu1281=)
c.4663C>T (p.Leu1555=)
c.2695C>T (p.Leu899=)
c.1351C>T (p.Leu451=)
c.4710C>T
c.5752C>T (p.Leu1918=)
c.5206C>T (p.Leu1736=)
c.4933C>T (p.Leu1645=)
n.334C>T
c.1439C>T
c.5479C>T (p.Leu1827=)
c.4660C>T (p.Leu1554=)
c.4114C>T (p.Leu1372=)
c.6028C>T (p.Leu2010=)
c.5755C>T (p.Leu1919=)
c.5209C>T (p.Leu1737=)
c.4936C>T (p.Leu1646=)
c.4387C>T (p.Leu1463=)
c.6301C>T (p.Leu2101=)
c.6025C>T (p.Leu2009=)
 dbSNP
9g.115035239G>CCA374626463TNCc.3841C>G (p.Leu1281Val)
c.4663C>G (p.Leu1555Val)
c.2695C>G (p.Leu899Val)
c.1351C>G (p.Leu451Val)
c.4710C>G
c.5752C>G (p.Leu1918Val)
c.5206C>G (p.Leu1736Val)
c.4933C>G (p.Leu1645Val)
n.334C>G
c.1439C>G
c.5479C>G (p.Leu1827Val)
c.4660C>G (p.Leu1554Val)
c.4114C>G (p.Leu1372Val)
c.6028C>G (p.Leu2010Val)
c.5755C>G (p.Leu1919Val)
c.5209C>G (p.Leu1737Val)
c.4936C>G (p.Leu1646Val)
c.4387C>G (p.Leu1463Val)
c.6301C>G (p.Leu2101Val)
c.6025C>G (p.Leu2009Val)
9g.115035239G=CA1874113739TNCc.3841C= (p.Leu1281=)
c.4663C= (p.Leu1555=)
c.2695C= (p.Leu899=)
c.1351C= (p.Leu451=)
c.4710C=
c.5752C= (p.Leu1918=)
c.5206C= (p.Leu1736=)
c.4933C= (p.Leu1645=)
n.334C=
c.1439C=
c.5479C= (p.Leu1827=)
c.4660C= (p.Leu1554=)
c.4114C= (p.Leu1372=)
c.6028C= (p.Leu2010=)
c.5755C= (p.Leu1919=)
c.5209C= (p.Leu1737=)
c.4936C= (p.Leu1646=)
c.4387C= (p.Leu1463=)
c.6301C= (p.Leu2101=)
c.6025C= (p.Leu2009=)
9g.115035239G>TCA374626464TNCc.3841C>A (p.Leu1281Met)
c.4663C>A (p.Leu1555Met)
c.2695C>A (p.Leu899Met)
c.1351C>A (p.Leu451Met)
c.4710C>A
c.5752C>A (p.Leu1918Met)
c.5206C>A (p.Leu1736Met)
c.4933C>A (p.Leu1645Met)
n.334C>A
c.1439C>A
c.5479C>A (p.Leu1827Met)
c.4660C>A (p.Leu1554Met)
c.4114C>A (p.Leu1372Met)
c.6028C>A (p.Leu2010Met)
c.5755C>A (p.Leu1919Met)
c.5209C>A (p.Leu1737Met)
c.4936C>A (p.Leu1646Met)
c.4387C>A (p.Leu1463Met)
c.6301C>A (p.Leu2101Met)
c.6025C>A (p.Leu2009Met)
9g.115035240G>ACA466790022TNCc.3840C>T (p.Tyr1280=)
c.4662C>T (p.Tyr1554=)
c.2694C>T (p.Tyr898=)
c.1350C>T (p.Tyr450=)
c.4709C>T
c.5751C>T (p.Tyr1917=)
c.5205C>T (p.Tyr1735=)
c.4932C>T (p.Tyr1644=)
n.333C>T
c.1438C>T
c.5478C>T (p.Tyr1826=)
c.4659C>T (p.Tyr1553=)
c.4113C>T (p.Tyr1371=)
c.6027C>T (p.Tyr2009=)
c.5754C>T (p.Tyr1918=)
c.5208C>T (p.Tyr1736=)
c.4935C>T (p.Tyr1645=)
c.4386C>T (p.Tyr1462=)
c.6300C>T (p.Tyr2100=)
c.6024C>T (p.Tyr2008=)
 dbSNP
9g.115035240G>CCA374626465TNCc.3840C>G (p.Tyr1280Ter)
c.4662C>G (p.Tyr1554Ter)
c.2694C>G (p.Tyr898Ter)
c.1350C>G (p.Tyr450Ter)
c.4709C>G
c.5751C>G (p.Tyr1917Ter)
c.5205C>G (p.Tyr1735Ter)
c.4932C>G (p.Tyr1644Ter)
n.333C>G
c.1438C>G
c.5478C>G (p.Tyr1826Ter)
c.4659C>G (p.Tyr1553Ter)
c.4113C>G (p.Tyr1371Ter)
c.6027C>G (p.Tyr2009Ter)
c.5754C>G (p.Tyr1918Ter)
c.5208C>G (p.Tyr1736Ter)
c.4935C>G (p.Tyr1645Ter)
c.4386C>G (p.Tyr1462Ter)
c.6300C>G (p.Tyr2100Ter)
c.6024C>G (p.Tyr2008Ter)
9g.115035240G=CA1874113740TNCc.3840C= (p.Tyr1280=)
c.4662C= (p.Tyr1554=)
c.2694C= (p.Tyr898=)
c.1350C= (p.Tyr450=)
c.4709C=
c.5751C= (p.Tyr1917=)
c.5205C= (p.Tyr1735=)
c.4932C= (p.Tyr1644=)
n.333C=
c.1438C=
c.5478C= (p.Tyr1826=)
c.4659C= (p.Tyr1553=)
c.4113C= (p.Tyr1371=)
c.6027C= (p.Tyr2009=)
c.5754C= (p.Tyr1918=)
c.5208C= (p.Tyr1736=)
c.4935C= (p.Tyr1645=)
c.4386C= (p.Tyr1462=)
c.6300C= (p.Tyr2100=)
c.6024C= (p.Tyr2008=)
9g.115035240G>TCA374626466TNCc.3840C>A (p.Tyr1280Ter)
c.4662C>A (p.Tyr1554Ter)
c.2694C>A (p.Tyr898Ter)
c.1350C>A (p.Tyr450Ter)
c.4709C>A
c.5751C>A (p.Tyr1917Ter)
c.5205C>A (p.Tyr1735Ter)
c.4932C>A (p.Tyr1644Ter)
n.333C>A
c.1438C>A
c.5478C>A (p.Tyr1826Ter)
c.4659C>A (p.Tyr1553Ter)
c.4113C>A (p.Tyr1371Ter)
c.6027C>A (p.Tyr2009Ter)
c.5754C>A (p.Tyr1918Ter)
c.5208C>A (p.Tyr1736Ter)
c.4935C>A (p.Tyr1645Ter)
c.4386C>A (p.Tyr1462Ter)
c.6300C>A (p.Tyr2100Ter)
c.6024C>A (p.Tyr2008Ter)
9g.115035241T>ACA374626468TNCc.3839A>T (p.Tyr1280Phe)
c.4661A>T (p.Tyr1554Phe)
c.2693A>T (p.Tyr898Phe)
c.1349A>T (p.Tyr450Phe)
c.4708A>T
c.5750A>T (p.Tyr1917Phe)
c.5204A>T (p.Tyr1735Phe)
c.4931A>T (p.Tyr1644Phe)
n.332A>T
c.1437A>T
c.5477A>T (p.Tyr1826Phe)
c.4658A>T (p.Tyr1553Phe)
c.4112A>T (p.Tyr1371Phe)
c.6026A>T (p.Tyr2009Phe)
c.5753A>T (p.Tyr1918Phe)
c.5207A>T (p.Tyr1736Phe)
c.4934A>T (p.Tyr1645Phe)
c.4385A>T (p.Tyr1462Phe)
c.6299A>T (p.Tyr2100Phe)
c.6023A>T (p.Tyr2008Phe)
9g.115035241T>CCA374626469TNCc.3839A>G (p.Tyr1280Cys)
c.4661A>G (p.Tyr1554Cys)
c.2693A>G (p.Tyr898Cys)
c.1349A>G (p.Tyr450Cys)
c.4708A>G
c.5750A>G (p.Tyr1917Cys)
c.5204A>G (p.Tyr1735Cys)
c.4931A>G (p.Tyr1644Cys)
n.332A>G
c.1437A>G
c.5477A>G (p.Tyr1826Cys)
c.4658A>G (p.Tyr1553Cys)
c.4112A>G (p.Tyr1371Cys)
c.6026A>G (p.Tyr2009Cys)
c.5753A>G (p.Tyr1918Cys)
c.5207A>G (p.Tyr1736Cys)
c.4934A>G (p.Tyr1645Cys)
c.4385A>G (p.Tyr1462Cys)
c.6299A>G (p.Tyr2100Cys)
c.6023A>G (p.Tyr2008Cys)
9g.115035241T>GCA374626467TNCc.3839A>C (p.Tyr1280Ser)
c.4661A>C (p.Tyr1554Ser)
c.2693A>C (p.Tyr898Ser)
c.1349A>C (p.Tyr450Ser)
c.4708A>C
c.5750A>C (p.Tyr1917Ser)
c.5204A>C (p.Tyr1735Ser)
c.4931A>C (p.Tyr1644Ser)
n.332A>C
c.1437A>C
c.5477A>C (p.Tyr1826Ser)
c.4658A>C (p.Tyr1553Ser)
c.4112A>C (p.Tyr1371Ser)
c.6026A>C (p.Tyr2009Ser)
c.5753A>C (p.Tyr1918Ser)
c.5207A>C (p.Tyr1736Ser)
c.4934A>C (p.Tyr1645Ser)
c.4385A>C (p.Tyr1462Ser)
c.6299A>C (p.Tyr2100Ser)
c.6023A>C (p.Tyr2008Ser)
9g.115035242A>CCA374626470TNCc.3838T>G (p.Tyr1280Asp)
c.4660T>G (p.Tyr1554Asp)
c.2692T>G (p.Tyr898Asp)
c.1348T>G (p.Tyr450Asp)
c.4707T>G
c.5749T>G (p.Tyr1917Asp)
c.5203T>G (p.Tyr1735Asp)
c.4930T>G (p.Tyr1644Asp)
n.331T>G
c.1436T>G
c.5476T>G (p.Tyr1826Asp)
c.4657T>G (p.Tyr1553Asp)
c.4111T>G (p.Tyr1371Asp)
c.6025T>G (p.Tyr2009Asp)
c.5752T>G (p.Tyr1918Asp)
c.5206T>G (p.Tyr1736Asp)
c.4933T>G (p.Tyr1645Asp)
c.4384T>G (p.Tyr1462Asp)
c.6298T>G (p.Tyr2100Asp)
c.6022T>G (p.Tyr2008Asp)
9g.115035242A>GCA374626471TNCc.3838T>C (p.Tyr1280His)
c.4660T>C (p.Tyr1554His)
c.2692T>C (p.Tyr898His)
c.1348T>C (p.Tyr450His)
c.4707T>C
c.5749T>C (p.Tyr1917His)
c.5203T>C (p.Tyr1735His)
c.4930T>C (p.Tyr1644His)
n.331T>C
c.1436T>C
c.5476T>C (p.Tyr1826His)
c.4657T>C (p.Tyr1553His)
c.4111T>C (p.Tyr1371His)
c.6025T>C (p.Tyr2009His)
c.5752T>C (p.Tyr1918His)
c.5206T>C (p.Tyr1736His)
c.4933T>C (p.Tyr1645His)
c.4384T>C (p.Tyr1462His)
c.6298T>C (p.Tyr2100His)
c.6022T>C (p.Tyr2008His)
9g.115035242A>TCA374626472TNCc.3838T>A (p.Tyr1280Asn)
c.4660T>A (p.Tyr1554Asn)
c.2692T>A (p.Tyr898Asn)
c.1348T>A (p.Tyr450Asn)
c.4707T>A
c.5749T>A (p.Tyr1917Asn)
c.5203T>A (p.Tyr1735Asn)
c.4930T>A (p.Tyr1644Asn)
n.331T>A
c.1436T>A
c.5476T>A (p.Tyr1826Asn)
c.4657T>A (p.Tyr1553Asn)
c.4111T>A (p.Tyr1371Asn)
c.6025T>A (p.Tyr2009Asn)
c.5752T>A (p.Tyr1918Asn)
c.5206T>A (p.Tyr1736Asn)
c.4933T>A (p.Tyr1645Asn)
c.4384T>A (p.Tyr1462Asn)
c.6298T>A (p.Tyr2100Asn)
c.6022T>A (p.Tyr2008Asn)
9g.115035243A>CCA466790023TNCc.3837T>G (p.Gly1279=)
c.4659T>G (p.Gly1553=)
c.2691T>G (p.Gly897=)
c.1347T>G (p.Gly449=)
c.4706T>G
c.5748T>G (p.Gly1916=)
c.5202T>G (p.Gly1734=)
c.4929T>G (p.Gly1643=)
n.330T>G
c.1435T>G
c.5475T>G (p.Gly1825=)
c.4656T>G (p.Gly1552=)
c.4110T>G (p.Gly1370=)
c.6024T>G (p.Gly2008=)
c.5751T>G (p.Gly1917=)
c.5205T>G (p.Gly1735=)
c.4932T>G (p.Gly1644=)
c.4383T>G (p.Gly1461=)
c.6297T>G (p.Gly2099=)
c.6021T>G (p.Gly2007=)
9g.115035243A>GCA466790025TNCc.3837T>C (p.Gly1279=)
c.4659T>C (p.Gly1553=)
c.2691T>C (p.Gly897=)
c.1347T>C (p.Gly449=)
c.4706T>C
c.5748T>C (p.Gly1916=)
c.5202T>C (p.Gly1734=)
c.4929T>C (p.Gly1643=)
n.330T>C
c.1435T>C
c.5475T>C (p.Gly1825=)
c.4656T>C (p.Gly1552=)
c.4110T>C (p.Gly1370=)
c.6024T>C (p.Gly2008=)
c.5751T>C (p.Gly1917=)
c.5205T>C (p.Gly1735=)
c.4932T>C (p.Gly1644=)
c.4383T>C (p.Gly1461=)
c.6297T>C (p.Gly2099=)
c.6021T>C (p.Gly2007=)
9g.115035243A>TCA466790024TNCc.3837T>A (p.Gly1279=)
c.4659T>A (p.Gly1553=)
c.2691T>A (p.Gly897=)
c.1347T>A (p.Gly449=)
c.4706T>A
c.5748T>A (p.Gly1916=)
c.5202T>A (p.Gly1734=)
c.4929T>A (p.Gly1643=)
n.330T>A
c.1435T>A
c.5475T>A (p.Gly1825=)
c.4656T>A (p.Gly1552=)
c.4110T>A (p.Gly1370=)
c.6024T>A (p.Gly2008=)
c.5751T>A (p.Gly1917=)
c.5205T>A (p.Gly1735=)
c.4932T>A (p.Gly1644=)
c.4383T>A (p.Gly1461=)
c.6297T>A (p.Gly2099=)
c.6021T>A (p.Gly2007=)
9g.115035244C>ACA374626473TNCc.3836G>T (p.Gly1279Val)
c.4658G>T (p.Gly1553Val)
c.2690G>T (p.Gly897Val)
c.1346G>T (p.Gly449Val)
c.4705G>T
c.5747G>T (p.Gly1916Val)
c.5201G>T (p.Gly1734Val)
c.4928G>T (p.Gly1643Val)
n.329G>T
c.1434G>T
c.5474G>T (p.Gly1825Val)
c.4655G>T (p.Gly1552Val)
c.4109G>T (p.Gly1370Val)
c.6023G>T (p.Gly2008Val)
c.5750G>T (p.Gly1917Val)
c.5204G>T (p.Gly1735Val)
c.4931G>T (p.Gly1644Val)
c.4382G>T (p.Gly1461Val)
c.6296G>T (p.Gly2099Val)
c.6020G>T (p.Gly2007Val)
9g.115035244C>GCA374626474TNCc.3836G>C (p.Gly1279Ala)
c.4658G>C (p.Gly1553Ala)
c.2690G>C (p.Gly897Ala)
c.1346G>C (p.Gly449Ala)
c.4705G>C
c.5747G>C (p.Gly1916Ala)
c.5201G>C (p.Gly1734Ala)
c.4928G>C (p.Gly1643Ala)
n.329G>C
c.1434G>C
c.5474G>C (p.Gly1825Ala)
c.4655G>C (p.Gly1552Ala)
c.4109G>C (p.Gly1370Ala)
c.6023G>C (p.Gly2008Ala)
c.5750G>C (p.Gly1917Ala)
c.5204G>C (p.Gly1735Ala)
c.4931G>C (p.Gly1644Ala)
c.4382G>C (p.Gly1461Ala)
c.6296G>C (p.Gly2099Ala)
c.6020G>C (p.Gly2007Ala)
9g.115035244C>TCA374626475TNCc.3836G>A (p.Gly1279Asp)
c.4658G>A (p.Gly1553Asp)
c.2690G>A (p.Gly897Asp)
c.1346G>A (p.Gly449Asp)
c.4705G>A
c.5747G>A (p.Gly1916Asp)
c.5201G>A (p.Gly1734Asp)
c.4928G>A (p.Gly1643Asp)
n.329G>A
c.1434G>A
c.5474G>A (p.Gly1825Asp)
c.4655G>A (p.Gly1552Asp)
c.4109G>A (p.Gly1370Asp)
c.6023G>A (p.Gly2008Asp)
c.5750G>A (p.Gly1917Asp)
c.5204G>A (p.Gly1735Asp)
c.4931G>A (p.Gly1644Asp)
c.4382G>A (p.Gly1461Asp)
c.6296G>A (p.Gly2099Asp)
c.6020G>A (p.Gly2007Asp)
9g.115035245C>ACA374626477TNCc.3835G>T (p.Gly1279Cys)
c.4657G>T (p.Gly1553Cys)
c.2689G>T (p.Gly897Cys)
c.1345G>T (p.Gly449Cys)
c.4704G>T
c.5746G>T (p.Gly1916Cys)
c.5200G>T (p.Gly1734Cys)
c.4927G>T (p.Gly1643Cys)
n.328G>T
c.1433G>T
c.5473G>T (p.Gly1825Cys)
c.4654G>T (p.Gly1552Cys)
c.4108G>T (p.Gly1370Cys)
c.6022G>T (p.Gly2008Cys)
c.5749G>T (p.Gly1917Cys)
c.5203G>T (p.Gly1735Cys)
c.4930G>T (p.Gly1644Cys)
c.4381G>T (p.Gly1461Cys)
c.6295G>T (p.Gly2099Cys)
c.6019G>T (p.Gly2007Cys)
9g.115035245C=CA1874113741TNCc.3835G= (p.Gly1279=)
c.4657G= (p.Gly1553=)
c.2689G= (p.Gly897=)
c.1345G= (p.Gly449=)
c.4704G=
c.5746G= (p.Gly1916=)
c.5200G= (p.Gly1734=)
c.4927G= (p.Gly1643=)
n.328G=
c.1433G=
c.5473G= (p.Gly1825=)
c.4654G= (p.Gly1552=)
c.4108G= (p.Gly1370=)
c.6022G= (p.Gly2008=)
c.5749G= (p.Gly1917=)
c.5203G= (p.Gly1735=)
c.4930G= (p.Gly1644=)
c.4381G= (p.Gly1461=)
c.6295G= (p.Gly2099=)
c.6019G= (p.Gly2007=)
9g.115035245C>GCA374626476TNCc.3835G>C (p.Gly1279Arg)
c.4657G>C (p.Gly1553Arg)
c.2689G>C (p.Gly897Arg)
c.1345G>C (p.Gly449Arg)
c.4704G>C
c.5746G>C (p.Gly1916Arg)
c.5200G>C (p.Gly1734Arg)
c.4927G>C (p.Gly1643Arg)
n.328G>C
c.1433G>C
c.5473G>C (p.Gly1825Arg)
c.4654G>C (p.Gly1552Arg)
c.4108G>C (p.Gly1370Arg)
c.6022G>C (p.Gly2008Arg)
c.5749G>C (p.Gly1917Arg)
c.5203G>C (p.Gly1735Arg)
c.4930G>C (p.Gly1644Arg)
c.4381G>C (p.Gly1461Arg)
c.6295G>C (p.Gly2099Arg)
c.6019G>C (p.Gly2007Arg)
9g.115035245C>TCA5207544TNCc.3835G>A (p.Gly1279Ser)
c.4657G>A (p.Gly1553Ser)
c.2689G>A (p.Gly897Ser)
c.1345G>A (p.Gly449Ser)
c.4704G>A
c.5746G>A (p.Gly1916Ser)
c.5200G>A (p.Gly1734Ser)
c.4927G>A (p.Gly1643Ser)
n.328G>A
c.1433G>A
c.5473G>A (p.Gly1825Ser)
c.4654G>A (p.Gly1552Ser)
c.4108G>A (p.Gly1370Ser)
c.6022G>A (p.Gly2008Ser)
c.5749G>A (p.Gly1917Ser)
c.5203G>A (p.Gly1735Ser)
c.4930G>A (p.Gly1644Ser)
c.4381G>A (p.Gly1461Ser)
c.6295G>A (p.Gly2099Ser)
c.6019G>A (p.Gly2007Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115035246G>ACA5207546TNCc.3834C>T (p.Thr1278=)
c.4656C>T (p.Thr1552=)
c.2688C>T (p.Thr896=)
c.1344C>T (p.Thr448=)
c.4703C>T
c.5745C>T (p.Thr1915=)
c.5199C>T (p.Thr1733=)
c.4926C>T (p.Thr1642=)
n.327C>T
c.1432C>T
c.5472C>T (p.Thr1824=)
c.4653C>T (p.Thr1551=)
c.4107C>T (p.Thr1369=)
c.6021C>T (p.Thr2007=)
c.5748C>T (p.Thr1916=)
c.5202C>T (p.Thr1734=)
c.4929C>T (p.Thr1643=)
c.4380C>T (p.Thr1460=)
c.6294C>T (p.Thr2098=)
c.6018C>T (p.Thr2006=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035246G>CCA466790026TNCc.3834C>G (p.Thr1278=)
c.4656C>G (p.Thr1552=)
c.2688C>G (p.Thr896=)
c.1344C>G (p.Thr448=)
c.4703C>G
c.5745C>G (p.Thr1915=)
c.5199C>G (p.Thr1733=)
c.4926C>G (p.Thr1642=)
n.327C>G
c.1432C>G
c.5472C>G (p.Thr1824=)
c.4653C>G (p.Thr1551=)
c.4107C>G (p.Thr1369=)
c.6021C>G (p.Thr2007=)
c.5748C>G (p.Thr1916=)
c.5202C>G (p.Thr1734=)
c.4929C>G (p.Thr1643=)
c.4380C>G (p.Thr1460=)
c.6294C>G (p.Thr2098=)
c.6018C>G (p.Thr2006=)
9g.115035246G=CA1874113742TNCc.3834C= (p.Thr1278=)
c.4656C= (p.Thr1552=)
c.2688C= (p.Thr896=)
c.1344C= (p.Thr448=)
c.4703C=
c.5745C= (p.Thr1915=)
c.5199C= (p.Thr1733=)
c.4926C= (p.Thr1642=)
n.327C=
c.1432C=
c.5472C= (p.Thr1824=)
c.4653C= (p.Thr1551=)
c.4107C= (p.Thr1369=)
c.6021C= (p.Thr2007=)
c.5748C= (p.Thr1916=)
c.5202C= (p.Thr1734=)
c.4929C= (p.Thr1643=)
c.4380C= (p.Thr1460=)
c.6294C= (p.Thr2098=)
c.6018C= (p.Thr2006=)
9g.115035246G>TCA5207545TNCc.3834C>A (p.Thr1278=)
c.4656C>A (p.Thr1552=)
c.2688C>A (p.Thr896=)
c.1344C>A (p.Thr448=)
c.4703C>A
c.5745C>A (p.Thr1915=)
c.5199C>A (p.Thr1733=)
c.4926C>A (p.Thr1642=)
n.327C>A
c.1432C>A
c.5472C>A (p.Thr1824=)
c.4653C>A (p.Thr1551=)
c.4107C>A (p.Thr1369=)
c.6021C>A (p.Thr2007=)
c.5748C>A (p.Thr1916=)
c.5202C>A (p.Thr1734=)
c.4929C>A (p.Thr1643=)
c.4380C>A (p.Thr1460=)
c.6294C>A (p.Thr2098=)
c.6018C>A (p.Thr2006=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035247G>ACA374626478TNCc.3833C>T (p.Thr1278Ile)
c.4655C>T (p.Thr1552Ile)
c.2687C>T (p.Thr896Ile)
c.1343C>T (p.Thr448Ile)
c.4702C>T
c.5744C>T (p.Thr1915Ile)
c.5198C>T (p.Thr1733Ile)
c.4925C>T (p.Thr1642Ile)
n.326C>T
c.1431C>T
c.5471C>T (p.Thr1824Ile)
c.4652C>T (p.Thr1551Ile)
c.4106C>T (p.Thr1369Ile)
c.6020C>T (p.Thr2007Ile)
c.5747C>T (p.Thr1916Ile)
c.5201C>T (p.Thr1734Ile)
c.4928C>T (p.Thr1643Ile)
c.4379C>T (p.Thr1460Ile)
c.6293C>T (p.Thr2098Ile)
c.6017C>T (p.Thr2006Ile)
9g.115035247G>CCA374626479TNCc.3833C>G (p.Thr1278Ser)
c.4655C>G (p.Thr1552Ser)
c.2687C>G (p.Thr896Ser)
c.1343C>G (p.Thr448Ser)
c.4702C>G
c.5744C>G (p.Thr1915Ser)
c.5198C>G (p.Thr1733Ser)
c.4925C>G (p.Thr1642Ser)
n.326C>G
c.1431C>G
c.5471C>G (p.Thr1824Ser)
c.4652C>G (p.Thr1551Ser)
c.4106C>G (p.Thr1369Ser)
c.6020C>G (p.Thr2007Ser)
c.5747C>G (p.Thr1916Ser)
c.5201C>G (p.Thr1734Ser)
c.4928C>G (p.Thr1643Ser)
c.4379C>G (p.Thr1460Ser)
c.6293C>G (p.Thr2098Ser)
c.6017C>G (p.Thr2006Ser)
9g.115035247G>TCA374626480TNCc.3833C>A (p.Thr1278Asn)
c.4655C>A (p.Thr1552Asn)
c.2687C>A (p.Thr896Asn)
c.1343C>A (p.Thr448Asn)
c.4702C>A
c.5744C>A (p.Thr1915Asn)
c.5198C>A (p.Thr1733Asn)
c.4925C>A (p.Thr1642Asn)
n.326C>A
c.1431C>A
c.5471C>A (p.Thr1824Asn)
c.4652C>A (p.Thr1551Asn)
c.4106C>A (p.Thr1369Asn)
c.6020C>A (p.Thr2007Asn)
c.5747C>A (p.Thr1916Asn)
c.5201C>A (p.Thr1734Asn)
c.4928C>A (p.Thr1643Asn)
c.4379C>A (p.Thr1460Asn)
c.6293C>A (p.Thr2098Asn)
c.6017C>A (p.Thr2006Asn)
9g.115035248T>ACA374626483TNCc.3832A>T (p.Thr1278Ser)
c.4654A>T (p.Thr1552Ser)
c.2686A>T (p.Thr896Ser)
c.1342A>T (p.Thr448Ser)
c.4701A>T
c.5743A>T (p.Thr1915Ser)
c.5197A>T (p.Thr1733Ser)
c.4924A>T (p.Thr1642Ser)
n.325A>T
c.1430A>T
c.5470A>T (p.Thr1824Ser)
c.4651A>T (p.Thr1551Ser)
c.4105A>T (p.Thr1369Ser)
c.6019A>T (p.Thr2007Ser)
c.5746A>T (p.Thr1916Ser)
c.5200A>T (p.Thr1734Ser)
c.4927A>T (p.Thr1643Ser)
c.4378A>T (p.Thr1460Ser)
c.6292A>T (p.Thr2098Ser)
c.6016A>T (p.Thr2006Ser)
9g.115035248T>CCA374626482TNCc.3832A>G (p.Thr1278Ala)
c.4654A>G (p.Thr1552Ala)
c.2686A>G (p.Thr896Ala)
c.1342A>G (p.Thr448Ala)
c.4701A>G
c.5743A>G (p.Thr1915Ala)
c.5197A>G (p.Thr1733Ala)
c.4924A>G (p.Thr1642Ala)
n.325A>G
c.1430A>G
c.5470A>G (p.Thr1824Ala)
c.4651A>G (p.Thr1551Ala)
c.4105A>G (p.Thr1369Ala)
c.6019A>G (p.Thr2007Ala)
c.5746A>G (p.Thr1916Ala)
c.5200A>G (p.Thr1734Ala)
c.4927A>G (p.Thr1643Ala)
c.4378A>G (p.Thr1460Ala)
c.6292A>G (p.Thr2098Ala)
c.6016A>G (p.Thr2006Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.115035248T>GCA374626481TNCc.3832A>C (p.Thr1278Pro)
c.4654A>C (p.Thr1552Pro)
c.2686A>C (p.Thr896Pro)
c.1342A>C (p.Thr448Pro)
c.4701A>C
c.5743A>C (p.Thr1915Pro)
c.5197A>C (p.Thr1733Pro)
c.4924A>C (p.Thr1642Pro)
n.325A>C
c.1430A>C
c.5470A>C (p.Thr1824Pro)
c.4651A>C (p.Thr1551Pro)
c.4105A>C (p.Thr1369Pro)
c.6019A>C (p.Thr2007Pro)
c.5746A>C (p.Thr1916Pro)
c.5200A>C (p.Thr1734Pro)
c.4927A>C (p.Thr1643Pro)
c.4378A>C (p.Thr1460Pro)
c.6292A>C (p.Thr2098Pro)
c.6016A>C (p.Thr2006Pro)
9g.115035248T=CA1874113743TNCc.3832A= (p.Thr1278=)
c.4654A= (p.Thr1552=)
c.2686A= (p.Thr896=)
c.1342A= (p.Thr448=)
c.4701A=
c.5743A= (p.Thr1915=)
c.5197A= (p.Thr1733=)
c.4924A= (p.Thr1642=)
n.325A=
c.1430A=
c.5470A= (p.Thr1824=)
c.4651A= (p.Thr1551=)
c.4105A= (p.Thr1369=)
c.6019A= (p.Thr2007=)
c.5746A= (p.Thr1916=)
c.5200A= (p.Thr1734=)
c.4927A= (p.Thr1643=)
c.4378A= (p.Thr1460=)
c.6292A= (p.Thr2098=)
c.6016A= (p.Thr2006=)
9g.115035249G>ACA466790027TNCc.3831C>T (p.Val1277=)
c.4653C>T (p.Val1551=)
c.2685C>T (p.Val895=)
c.1341C>T (p.Val447=)
c.4700C>T
c.5742C>T (p.Val1914=)
c.5196C>T (p.Val1732=)
c.4923C>T (p.Val1641=)
n.324C>T
c.1429C>T
c.5469C>T (p.Val1823=)
c.4650C>T (p.Val1550=)
c.4104C>T (p.Val1368=)
c.6018C>T (p.Val2006=)
c.5745C>T (p.Val1915=)
c.5199C>T (p.Val1733=)
c.4926C>T (p.Val1642=)
c.4377C>T (p.Val1459=)
c.6291C>T (p.Val2097=)
c.6015C>T (p.Val2005=)
9g.115035249G>CCA466790028TNCc.3831C>G (p.Val1277=)
c.4653C>G (p.Val1551=)
c.2685C>G (p.Val895=)
c.1341C>G (p.Val447=)
c.4700C>G
c.5742C>G (p.Val1914=)
c.5196C>G (p.Val1732=)
c.4923C>G (p.Val1641=)
n.324C>G
c.1429C>G
c.5469C>G (p.Val1823=)
c.4650C>G (p.Val1550=)
c.4104C>G (p.Val1368=)
c.6018C>G (p.Val2006=)
c.5745C>G (p.Val1915=)
c.5199C>G (p.Val1733=)
c.4926C>G (p.Val1642=)
c.4377C>G (p.Val1459=)
c.6291C>G (p.Val2097=)
c.6015C>G (p.Val2005=)
9g.115035249G>TCA466790029TNCc.3831C>A (p.Val1277=)
c.4653C>A (p.Val1551=)
c.2685C>A (p.Val895=)
c.1341C>A (p.Val447=)
c.4700C>A
c.5742C>A (p.Val1914=)
c.5196C>A (p.Val1732=)
c.4923C>A (p.Val1641=)
n.324C>A
c.1429C>A
c.5469C>A (p.Val1823=)
c.4650C>A (p.Val1550=)
c.4104C>A (p.Val1368=)
c.6018C>A (p.Val2006=)
c.5745C>A (p.Val1915=)
c.5199C>A (p.Val1733=)
c.4926C>A (p.Val1642=)
c.4377C>A (p.Val1459=)
c.6291C>A (p.Val2097=)
c.6015C>A (p.Val2005=)
9g.115035250A>CCA374626484TNCc.3830T>G (p.Val1277Gly)
c.4652T>G (p.Val1551Gly)
c.2684T>G (p.Val895Gly)
c.1340T>G (p.Val447Gly)
c.4699T>G
c.5741T>G (p.Val1914Gly)
c.5195T>G (p.Val1732Gly)
c.4922T>G (p.Val1641Gly)
n.323T>G
c.1428T>G
c.5468T>G (p.Val1823Gly)
c.4649T>G (p.Val1550Gly)
c.4103T>G (p.Val1368Gly)
c.6017T>G (p.Val2006Gly)
c.5744T>G (p.Val1915Gly)
c.5198T>G (p.Val1733Gly)
c.4925T>G (p.Val1642Gly)
c.4376T>G (p.Val1459Gly)
c.6290T>G (p.Val2097Gly)
c.6014T>G (p.Val2005Gly)
9g.115035250A>GCA374626486TNCc.3830T>C (p.Val1277Ala)
c.4652T>C (p.Val1551Ala)
c.2684T>C (p.Val895Ala)
c.1340T>C (p.Val447Ala)
c.4699T>C
c.5741T>C (p.Val1914Ala)
c.5195T>C (p.Val1732Ala)
c.4922T>C (p.Val1641Ala)
n.323T>C
c.1428T>C
c.5468T>C (p.Val1823Ala)
c.4649T>C (p.Val1550Ala)
c.4103T>C (p.Val1368Ala)
c.6017T>C (p.Val2006Ala)
c.5744T>C (p.Val1915Ala)
c.5198T>C (p.Val1733Ala)
c.4925T>C (p.Val1642Ala)
c.4376T>C (p.Val1459Ala)
c.6290T>C (p.Val2097Ala)
c.6014T>C (p.Val2005Ala)
9g.115035250A>TCA374626485TNCc.3830T>A (p.Val1277Asp)
c.4652T>A (p.Val1551Asp)
c.2684T>A (p.Val895Asp)
c.1340T>A (p.Val447Asp)
c.4699T>A
c.5741T>A (p.Val1914Asp)
c.5195T>A (p.Val1732Asp)
c.4922T>A (p.Val1641Asp)
n.323T>A
c.1428T>A
c.5468T>A (p.Val1823Asp)
c.4649T>A (p.Val1550Asp)
c.4103T>A (p.Val1368Asp)
c.6017T>A (p.Val2006Asp)
c.5744T>A (p.Val1915Asp)
c.5198T>A (p.Val1733Asp)
c.4925T>A (p.Val1642Asp)
c.4376T>A (p.Val1459Asp)
c.6290T>A (p.Val2097Asp)
c.6014T>A (p.Val2005Asp)
9g.115035251C>ACA374626487TNCc.3829G>T (p.Val1277Phe)
c.4651G>T (p.Val1551Phe)
c.2683G>T (p.Val895Phe)
c.1339G>T (p.Val447Phe)
c.4698G>T
c.5740G>T (p.Val1914Phe)
c.5194G>T (p.Val1732Phe)
c.4921G>T (p.Val1641Phe)
n.322G>T
c.1427G>T
c.5467G>T (p.Val1823Phe)
c.4648G>T (p.Val1550Phe)
c.4102G>T (p.Val1368Phe)
c.6016G>T (p.Val2006Phe)
c.5743G>T (p.Val1915Phe)
c.5197G>T (p.Val1733Phe)
c.4924G>T (p.Val1642Phe)
c.4375G>T (p.Val1459Phe)
c.6289G>T (p.Val2097Phe)
c.6013G>T (p.Val2005Phe)
9g.115035251C>GCA374626488TNCc.3829G>C (p.Val1277Leu)
c.4651G>C (p.Val1551Leu)
c.2683G>C (p.Val895Leu)
c.1339G>C (p.Val447Leu)
c.4698G>C
c.5740G>C (p.Val1914Leu)
c.5194G>C (p.Val1732Leu)
c.4921G>C (p.Val1641Leu)
n.322G>C
c.1427G>C
c.5467G>C (p.Val1823Leu)
c.4648G>C (p.Val1550Leu)
c.4102G>C (p.Val1368Leu)
c.6016G>C (p.Val2006Leu)
c.5743G>C (p.Val1915Leu)
c.5197G>C (p.Val1733Leu)
c.4924G>C (p.Val1642Leu)
c.4375G>C (p.Val1459Leu)
c.6289G>C (p.Val2097Leu)
c.6013G>C (p.Val2005Leu)
9g.115035251C>TCA374626489TNCc.3829G>A (p.Val1277Ile)
c.4651G>A (p.Val1551Ile)
c.2683G>A (p.Val895Ile)
c.1339G>A (p.Val447Ile)
c.4698G>A
c.5740G>A (p.Val1914Ile)
c.5194G>A (p.Val1732Ile)
c.4921G>A (p.Val1641Ile)
n.322G>A
c.1427G>A
c.5467G>A (p.Val1823Ile)
c.4648G>A (p.Val1550Ile)
c.4102G>A (p.Val1368Ile)
c.6016G>A (p.Val2006Ile)
c.5743G>A (p.Val1915Ile)
c.5197G>A (p.Val1733Ile)
c.4924G>A (p.Val1642Ile)
c.4375G>A (p.Val1459Ile)
c.6289G>A (p.Val2097Ile)
c.6013G>A (p.Val2005Ile)
9g.115035252T>ACA466790031TNCc.3828A>T (p.Ser1276=)
c.4650A>T (p.Ser1550=)
c.2682A>T (p.Ser894=)
c.1338A>T (p.Ser446=)
c.4697A>T
c.5739A>T (p.Ser1913=)
c.5193A>T (p.Ser1731=)
c.4920A>T (p.Ser1640=)
n.321A>T
c.1426A>T
c.5466A>T (p.Ser1822=)
c.4647A>T (p.Ser1549=)
c.4101A>T (p.Ser1367=)
c.6015A>T (p.Ser2005=)
c.5742A>T (p.Ser1914=)
c.5196A>T (p.Ser1732=)
c.4923A>T (p.Ser1641=)
c.4374A>T (p.Ser1458=)
c.6288A>T (p.Ser2096=)
c.6012A>T (p.Ser2004=)
9g.115035252T>CCA466790032TNCc.3828A>G (p.Ser1276=)
c.4650A>G (p.Ser1550=)
c.2682A>G (p.Ser894=)
c.1338A>G (p.Ser446=)
c.4697A>G
c.5739A>G (p.Ser1913=)
c.5193A>G (p.Ser1731=)
c.4920A>G (p.Ser1640=)
n.321A>G
c.1426A>G
c.5466A>G (p.Ser1822=)
c.4647A>G (p.Ser1549=)
c.4101A>G (p.Ser1367=)
c.6015A>G (p.Ser2005=)
c.5742A>G (p.Ser1914=)
c.5196A>G (p.Ser1732=)
c.4923A>G (p.Ser1641=)
c.4374A>G (p.Ser1458=)
c.6288A>G (p.Ser2096=)
c.6012A>G (p.Ser2004=)
9g.115035252T>GCA466790030TNCc.3828A>C (p.Ser1276=)
c.4650A>C (p.Ser1550=)
c.2682A>C (p.Ser894=)
c.1338A>C (p.Ser446=)
c.4697A>C
c.5739A>C (p.Ser1913=)
c.5193A>C (p.Ser1731=)
c.4920A>C (p.Ser1640=)
n.321A>C
c.1426A>C
c.5466A>C (p.Ser1822=)
c.4647A>C (p.Ser1549=)
c.4101A>C (p.Ser1367=)
c.6015A>C (p.Ser2005=)
c.5742A>C (p.Ser1914=)
c.5196A>C (p.Ser1732=)
c.4923A>C (p.Ser1641=)
c.4374A>C (p.Ser1458=)
c.6288A>C (p.Ser2096=)
c.6012A>C (p.Ser2004=)
 COSMIC
9g.115035253G>ACA374626490TNCc.3827C>T (p.Ser1276Leu)
c.4649C>T (p.Ser1550Leu)
c.2681C>T (p.Ser894Leu)
c.1337C>T (p.Ser446Leu)
c.4696C>T
c.5738C>T (p.Ser1913Leu)
c.5192C>T (p.Ser1731Leu)
c.4919C>T (p.Ser1640Leu)
n.320C>T
c.1425C>T
c.5465C>T (p.Ser1822Leu)
c.4646C>T (p.Ser1549Leu)
c.4100C>T (p.Ser1367Leu)
c.6014C>T (p.Ser2005Leu)
c.5741C>T (p.Ser1914Leu)
c.5195C>T (p.Ser1732Leu)
c.4922C>T (p.Ser1641Leu)
c.4373C>T (p.Ser1458Leu)
c.6287C>T (p.Ser2096Leu)
c.6011C>T (p.Ser2004Leu)
9g.115035253G>CCA374626491TNCc.3827C>G (p.Ser1276Ter)
c.4649C>G (p.Ser1550Ter)
c.2681C>G (p.Ser894Ter)
c.1337C>G (p.Ser446Ter)
c.4696C>G
c.5738C>G (p.Ser1913Ter)
c.5192C>G (p.Ser1731Ter)
c.4919C>G (p.Ser1640Ter)
n.320C>G
c.1425C>G
c.5465C>G (p.Ser1822Ter)
c.4646C>G (p.Ser1549Ter)
c.4100C>G (p.Ser1367Ter)
c.6014C>G (p.Ser2005Ter)
c.5741C>G (p.Ser1914Ter)
c.5195C>G (p.Ser1732Ter)
c.4922C>G (p.Ser1641Ter)
c.4373C>G (p.Ser1458Ter)
c.6287C>G (p.Ser2096Ter)
c.6011C>G (p.Ser2004Ter)
9g.115035253G>TCA374626492TNCc.3827C>A (p.Ser1276Ter)
c.4649C>A (p.Ser1550Ter)
c.2681C>A (p.Ser894Ter)
c.1337C>A (p.Ser446Ter)
c.4696C>A
c.5738C>A (p.Ser1913Ter)
c.5192C>A (p.Ser1731Ter)
c.4919C>A (p.Ser1640Ter)
n.320C>A
c.1425C>A
c.5465C>A (p.Ser1822Ter)
c.4646C>A (p.Ser1549Ter)
c.4100C>A (p.Ser1367Ter)
c.6014C>A (p.Ser2005Ter)
c.5741C>A (p.Ser1914Ter)
c.5195C>A (p.Ser1732Ter)
c.4922C>A (p.Ser1641Ter)
c.4373C>A (p.Ser1458Ter)
c.6287C>A (p.Ser2096Ter)
c.6011C>A (p.Ser2004Ter)
9g.115035254A>CCA374626493TNCc.3826T>G (p.Ser1276Ala)
c.4648T>G (p.Ser1550Ala)
c.2680T>G (p.Ser894Ala)
c.1336T>G (p.Ser446Ala)
c.4695T>G
c.5737T>G (p.Ser1913Ala)
c.5191T>G (p.Ser1731Ala)
c.4918T>G (p.Ser1640Ala)
n.319T>G
c.1424T>G
c.5464T>G (p.Ser1822Ala)
c.4645T>G (p.Ser1549Ala)
c.4099T>G (p.Ser1367Ala)
c.6013T>G (p.Ser2005Ala)
c.5740T>G (p.Ser1914Ala)
c.5194T>G (p.Ser1732Ala)
c.4921T>G (p.Ser1641Ala)
c.4372T>G (p.Ser1458Ala)
c.6286T>G (p.Ser2096Ala)
c.6010T>G (p.Ser2004Ala)
9g.115035254A>GCA374626494TNCc.3826T>C (p.Ser1276Pro)
c.4648T>C (p.Ser1550Pro)
c.2680T>C (p.Ser894Pro)
c.1336T>C (p.Ser446Pro)
c.4695T>C
c.5737T>C (p.Ser1913Pro)
c.5191T>C (p.Ser1731Pro)
c.4918T>C (p.Ser1640Pro)
n.319T>C
c.1424T>C
c.5464T>C (p.Ser1822Pro)
c.4645T>C (p.Ser1549Pro)
c.4099T>C (p.Ser1367Pro)
c.6013T>C (p.Ser2005Pro)
c.5740T>C (p.Ser1914Pro)
c.5194T>C (p.Ser1732Pro)
c.4921T>C (p.Ser1641Pro)
c.4372T>C (p.Ser1458Pro)
c.6286T>C (p.Ser2096Pro)
c.6010T>C (p.Ser2004Pro)
9g.115035254A>TCA374626495TNCc.3826T>A (p.Ser1276Thr)
c.4648T>A (p.Ser1550Thr)
c.2680T>A (p.Ser894Thr)
c.1336T>A (p.Ser446Thr)
c.4695T>A
c.5737T>A (p.Ser1913Thr)
c.5191T>A (p.Ser1731Thr)
c.4918T>A (p.Ser1640Thr)
n.319T>A
c.1424T>A
c.5464T>A (p.Ser1822Thr)
c.4645T>A (p.Ser1549Thr)
c.4099T>A (p.Ser1367Thr)
c.6013T>A (p.Ser2005Thr)
c.5740T>A (p.Ser1914Thr)
c.5194T>A (p.Ser1732Thr)
c.4921T>A (p.Ser1641Thr)
c.4372T>A (p.Ser1458Thr)
c.6286T>A (p.Ser2096Thr)
c.6010T>A (p.Ser2004Thr)
9g.115035255T>ACA466790033TNCc.3825A>T (p.Ala1275=)
c.4647A>T (p.Ala1549=)
c.2679A>T (p.Ala893=)
c.1335A>T (p.Ala445=)
c.4694A>T
c.5736A>T (p.Ala1912=)
c.5190A>T (p.Ala1730=)
c.4917A>T (p.Ala1639=)
n.318A>T
c.1423A>T
c.5463A>T (p.Ala1821=)
c.4644A>T (p.Ala1548=)
c.4098A>T (p.Ala1366=)
c.6012A>T (p.Ala2004=)
c.5739A>T (p.Ala1913=)
c.5193A>T (p.Ala1731=)
c.4920A>T (p.Ala1640=)
c.4371A>T (p.Ala1457=)
c.6285A>T (p.Ala2095=)
c.6009A>T (p.Ala2003=)
9g.115035255T>CCA466790034TNCc.3825A>G (p.Ala1275=)
c.4647A>G (p.Ala1549=)
c.2679A>G (p.Ala893=)
c.1335A>G (p.Ala445=)
c.4694A>G
c.5736A>G (p.Ala1912=)
c.5190A>G (p.Ala1730=)
c.4917A>G (p.Ala1639=)
n.318A>G
c.1423A>G
c.5463A>G (p.Ala1821=)
c.4644A>G (p.Ala1548=)
c.4098A>G (p.Ala1366=)
c.6012A>G (p.Ala2004=)
c.5739A>G (p.Ala1913=)
c.5193A>G (p.Ala1731=)
c.4920A>G (p.Ala1640=)
c.4371A>G (p.Ala1457=)
c.6285A>G (p.Ala2095=)
c.6009A>G (p.Ala2003=)
9g.115035255T>GCA466790035TNCc.3825A>C (p.Ala1275=)
c.4647A>C (p.Ala1549=)
c.2679A>C (p.Ala893=)
c.1335A>C (p.Ala445=)
c.4694A>C
c.5736A>C (p.Ala1912=)
c.5190A>C (p.Ala1730=)
c.4917A>C (p.Ala1639=)
n.318A>C
c.1423A>C
c.5463A>C (p.Ala1821=)
c.4644A>C (p.Ala1548=)
c.4098A>C (p.Ala1366=)
c.6012A>C (p.Ala2004=)
c.5739A>C (p.Ala1913=)
c.5193A>C (p.Ala1731=)
c.4920A>C (p.Ala1640=)
c.4371A>C (p.Ala1457=)
c.6285A>C (p.Ala2095=)
c.6009A>C (p.Ala2003=)
9g.115035256G>ACA374626496TNCc.3824C>T (p.Ala1275Val)
c.4646C>T (p.Ala1549Val)
c.2678C>T (p.Ala893Val)
c.1334C>T (p.Ala445Val)
c.4693C>T
c.5735C>T (p.Ala1912Val)
c.5189C>T (p.Ala1730Val)
c.4916C>T (p.Ala1639Val)
n.317C>T
c.1422C>T
c.5462C>T (p.Ala1821Val)
c.4643C>T (p.Ala1548Val)
c.4097C>T (p.Ala1366Val)
c.6011C>T (p.Ala2004Val)
c.5738C>T (p.Ala1913Val)
c.5192C>T (p.Ala1731Val)
c.4919C>T (p.Ala1640Val)
c.4370C>T (p.Ala1457Val)
c.6284C>T (p.Ala2095Val)
c.6008C>T (p.Ala2003Val)
 dbSNP gnomAD v4
9g.115035256G>CCA374626497TNCc.3824C>G (p.Ala1275Gly)
c.4646C>G (p.Ala1549Gly)
c.2678C>G (p.Ala893Gly)
c.1334C>G (p.Ala445Gly)
c.4693C>G
c.5735C>G (p.Ala1912Gly)
c.5189C>G (p.Ala1730Gly)
c.4916C>G (p.Ala1639Gly)
n.317C>G
c.1422C>G
c.5462C>G (p.Ala1821Gly)
c.4643C>G (p.Ala1548Gly)
c.4097C>G (p.Ala1366Gly)
c.6011C>G (p.Ala2004Gly)
c.5738C>G (p.Ala1913Gly)
c.5192C>G (p.Ala1731Gly)
c.4919C>G (p.Ala1640Gly)
c.4370C>G (p.Ala1457Gly)
c.6284C>G (p.Ala2095Gly)
c.6008C>G (p.Ala2003Gly)
9g.115035256G=CA1874113744TNCc.3824C= (p.Ala1275=)
c.4646C= (p.Ala1549=)
c.2678C= (p.Ala893=)
c.1334C= (p.Ala445=)
c.4693C=
c.5735C= (p.Ala1912=)
c.5189C= (p.Ala1730=)
c.4916C= (p.Ala1639=)
n.317C=
c.1422C=
c.5462C= (p.Ala1821=)
c.4643C= (p.Ala1548=)
c.4097C= (p.Ala1366=)
c.6011C= (p.Ala2004=)
c.5738C= (p.Ala1913=)
c.5192C= (p.Ala1731=)
c.4919C= (p.Ala1640=)
c.4370C= (p.Ala1457=)
c.6284C= (p.Ala2095=)
c.6008C= (p.Ala2003=)
9g.115035256G>TCA374626498TNCc.3824C>A (p.Ala1275Glu)
c.4646C>A (p.Ala1549Glu)
c.2678C>A (p.Ala893Glu)
c.1334C>A (p.Ala445Glu)
c.4693C>A
c.5735C>A (p.Ala1912Glu)
c.5189C>A (p.Ala1730Glu)
c.4916C>A (p.Ala1639Glu)
n.317C>A
c.1422C>A
c.5462C>A (p.Ala1821Glu)
c.4643C>A (p.Ala1548Glu)
c.4097C>A (p.Ala1366Glu)
c.6011C>A (p.Ala2004Glu)
c.5738C>A (p.Ala1913Glu)
c.5192C>A (p.Ala1731Glu)
c.4919C>A (p.Ala1640Glu)
c.4370C>A (p.Ala1457Glu)
c.6284C>A (p.Ala2095Glu)
c.6008C>A (p.Ala2003Glu)
9g.115035257C>ACA374626499TNCc.3823G>T (p.Ala1275Ser)
c.4645G>T (p.Ala1549Ser)
c.2677G>T (p.Ala893Ser)
c.1333G>T (p.Ala445Ser)
c.4692G>T
c.5734G>T (p.Ala1912Ser)
c.5188G>T (p.Ala1730Ser)
c.4915G>T (p.Ala1639Ser)
n.316G>T
c.1421G>T
c.5461G>T (p.Ala1821Ser)
c.4642G>T (p.Ala1548Ser)
c.4096G>T (p.Ala1366Ser)
c.6010G>T (p.Ala2004Ser)
c.5737G>T (p.Ala1913Ser)
c.5191G>T (p.Ala1731Ser)
c.4918G>T (p.Ala1640Ser)
c.4369G>T (p.Ala1457Ser)
c.6283G>T (p.Ala2095Ser)
c.6007G>T (p.Ala2003Ser)
 gnomAD v4
9g.115035257C>GCA374626501TNCc.3823G>C (p.Ala1275Pro)
c.4645G>C (p.Ala1549Pro)
c.2677G>C (p.Ala893Pro)
c.1333G>C (p.Ala445Pro)
c.4692G>C
c.5734G>C (p.Ala1912Pro)
c.5188G>C (p.Ala1730Pro)
c.4915G>C (p.Ala1639Pro)
n.316G>C
c.1421G>C
c.5461G>C (p.Ala1821Pro)
c.4642G>C (p.Ala1548Pro)
c.4096G>C (p.Ala1366Pro)
c.6010G>C (p.Ala2004Pro)
c.5737G>C (p.Ala1913Pro)
c.5191G>C (p.Ala1731Pro)
c.4918G>C (p.Ala1640Pro)
c.4369G>C (p.Ala1457Pro)
c.6283G>C (p.Ala2095Pro)
c.6007G>C (p.Ala2003Pro)
9g.115035257C>TCA374626500TNCc.3823G>A (p.Ala1275Thr)
c.4645G>A (p.Ala1549Thr)
c.2677G>A (p.Ala893Thr)
c.1333G>A (p.Ala445Thr)
c.4692G>A
c.5734G>A (p.Ala1912Thr)
c.5188G>A (p.Ala1730Thr)
c.4915G>A (p.Ala1639Thr)
n.316G>A
c.1421G>A
c.5461G>A (p.Ala1821Thr)
c.4642G>A (p.Ala1548Thr)
c.4096G>A (p.Ala1366Thr)
c.6010G>A (p.Ala2004Thr)
c.5737G>A (p.Ala1913Thr)
c.5191G>A (p.Ala1731Thr)
c.4918G>A (p.Ala1640Thr)
c.4369G>A (p.Ala1457Thr)
c.6283G>A (p.Ala2095Thr)
c.6007G>A (p.Ala2003Thr)
9g.115035258C>ACA466790047TNCc.3822G>T (p.Arg1274=)
c.4644G>T (p.Arg1548=)
c.2676G>T (p.Arg892=)
c.1332G>T (p.Arg444=)
c.4691G>T
c.5733G>T (p.Arg1911=)
c.5187G>T (p.Arg1729=)
c.4914G>T (p.Arg1638=)
n.315G>T
c.1420G>T
c.5460G>T (p.Arg1820=)
c.4641G>T (p.Arg1547=)
c.4095G>T (p.Arg1365=)
c.6009G>T (p.Arg2003=)
c.5736G>T (p.Arg1912=)
c.5190G>T (p.Arg1730=)
c.4917G>T (p.Arg1639=)
c.4368G>T (p.Arg1456=)
c.6282G>T (p.Arg2094=)
c.6006G>T (p.Arg2002=)
9g.115035258C=CA1874113745TNCc.3822G= (p.Arg1274=)
c.4644G= (p.Arg1548=)
c.2676G= (p.Arg892=)
c.1332G= (p.Arg444=)
c.4691G=
c.5733G= (p.Arg1911=)
c.5187G= (p.Arg1729=)
c.4914G= (p.Arg1638=)
n.315G=
c.1420G=
c.5460G= (p.Arg1820=)
c.4641G= (p.Arg1547=)
c.4095G= (p.Arg1365=)
c.6009G= (p.Arg2003=)
c.5736G= (p.Arg1912=)
c.5190G= (p.Arg1730=)
c.4917G= (p.Arg1639=)
c.4368G= (p.Arg1456=)
c.6282G= (p.Arg2094=)
c.6006G= (p.Arg2002=)
9g.115035258C>GCA466790049TNCc.3822G>C (p.Arg1274=)
c.4644G>C (p.Arg1548=)
c.2676G>C (p.Arg892=)
c.1332G>C (p.Arg444=)
c.4691G>C
c.5733G>C (p.Arg1911=)
c.5187G>C (p.Arg1729=)
c.4914G>C (p.Arg1638=)
n.315G>C
c.1420G>C
c.5460G>C (p.Arg1820=)
c.4641G>C (p.Arg1547=)
c.4095G>C (p.Arg1365=)
c.6009G>C (p.Arg2003=)
c.5736G>C (p.Arg1912=)
c.5190G>C (p.Arg1730=)
c.4917G>C (p.Arg1639=)
c.4368G>C (p.Arg1456=)
c.6282G>C (p.Arg2094=)
c.6006G>C (p.Arg2002=)
 dbSNP gnomAD v2 gnomAD v4
9g.115035258C>TCA466790050TNCc.3822G>A (p.Arg1274=)
c.4644G>A (p.Arg1548=)
c.2676G>A (p.Arg892=)
c.1332G>A (p.Arg444=)
c.4691G>A
c.5733G>A (p.Arg1911=)
c.5187G>A (p.Arg1729=)
c.4914G>A (p.Arg1638=)
n.315G>A
c.1420G>A
c.5460G>A (p.Arg1820=)
c.4641G>A (p.Arg1547=)
c.4095G>A (p.Arg1365=)
c.6009G>A (p.Arg2003=)
c.5736G>A (p.Arg1912=)
c.5190G>A (p.Arg1730=)
c.4917G>A (p.Arg1639=)
c.4368G>A (p.Arg1456=)
c.6282G>A (p.Arg2094=)
c.6006G>A (p.Arg2002=)
9g.115035259C>ACA374626502TNCc.3821G>T (p.Arg1274Leu)
c.4643G>T (p.Arg1548Leu)
c.2675G>T (p.Arg892Leu)
c.1331G>T (p.Arg444Leu)
c.4690G>T
c.5732G>T (p.Arg1911Leu)
c.5186G>T (p.Arg1729Leu)
c.4913G>T (p.Arg1638Leu)
n.314G>T
c.1419G>T
c.5459G>T (p.Arg1820Leu)
c.4640G>T (p.Arg1547Leu)
c.4094G>T (p.Arg1365Leu)
c.6008G>T (p.Arg2003Leu)
c.5735G>T (p.Arg1912Leu)
c.5189G>T (p.Arg1730Leu)
c.4916G>T (p.Arg1639Leu)
c.4367G>T (p.Arg1456Leu)
c.6281G>T (p.Arg2094Leu)
c.6005G>T (p.Arg2002Leu)
9g.115035259C=CA1874113746TNCc.3821G= (p.Arg1274=)
c.4643G= (p.Arg1548=)
c.2675G= (p.Arg892=)
c.1331G= (p.Arg444=)
c.4690G=
c.5732G= (p.Arg1911=)
c.5186G= (p.Arg1729=)
c.4913G= (p.Arg1638=)
n.314G=
c.1419G=
c.5459G= (p.Arg1820=)
c.4640G= (p.Arg1547=)
c.4094G= (p.Arg1365=)
c.6008G= (p.Arg2003=)
c.5735G= (p.Arg1912=)
c.5189G= (p.Arg1730=)
c.4916G= (p.Arg1639=)
c.4367G= (p.Arg1456=)
c.6281G= (p.Arg2094=)
c.6005G= (p.Arg2002=)
9g.115035259C>GCA374626503TNCc.3821G>C (p.Arg1274Pro)
c.4643G>C (p.Arg1548Pro)
c.2675G>C (p.Arg892Pro)
c.1331G>C (p.Arg444Pro)
c.4690G>C
c.5732G>C (p.Arg1911Pro)
c.5186G>C (p.Arg1729Pro)
c.4913G>C (p.Arg1638Pro)
n.314G>C
c.1419G>C
c.5459G>C (p.Arg1820Pro)
c.4640G>C (p.Arg1547Pro)
c.4094G>C (p.Arg1365Pro)
c.6008G>C (p.Arg2003Pro)
c.5735G>C (p.Arg1912Pro)
c.5189G>C (p.Arg1730Pro)
c.4916G>C (p.Arg1639Pro)
c.4367G>C (p.Arg1456Pro)
c.6281G>C (p.Arg2094Pro)
c.6005G>C (p.Arg2002Pro)
9g.115035259C>TCA5207547TNCc.3821G>A (p.Arg1274Gln)
c.4643G>A (p.Arg1548Gln)
c.2675G>A (p.Arg892Gln)
c.1331G>A (p.Arg444Gln)
c.4690G>A
c.5732G>A (p.Arg1911Gln)
c.5186G>A (p.Arg1729Gln)
c.4913G>A (p.Arg1638Gln)
n.314G>A
c.1419G>A
c.5459G>A (p.Arg1820Gln)
c.4640G>A (p.Arg1547Gln)
c.4094G>A (p.Arg1365Gln)
c.6008G>A (p.Arg2003Gln)
c.5735G>A (p.Arg1912Gln)
c.5189G>A (p.Arg1730Gln)
c.4916G>A (p.Arg1639Gln)
c.4367G>A (p.Arg1456Gln)
c.6281G>A (p.Arg2094Gln)
c.6005G>A (p.Arg2002Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035260G>ACA5207549TNCc.3820C>T (p.Arg1274Trp)
c.4642C>T (p.Arg1548Trp)
c.2674C>T (p.Arg892Trp)
c.1330C>T (p.Arg444Trp)
c.4689C>T
c.5731C>T (p.Arg1911Trp)
c.5185C>T (p.Arg1729Trp)
c.4912C>T (p.Arg1638Trp)
n.313C>T
c.1418C>T
c.5458C>T (p.Arg1820Trp)
c.4639C>T (p.Arg1547Trp)
c.4093C>T (p.Arg1365Trp)
c.6007C>T (p.Arg2003Trp)
c.5734C>T (p.Arg1912Trp)
c.5188C>T (p.Arg1730Trp)
c.4915C>T (p.Arg1639Trp)
c.4366C>T (p.Arg1456Trp)
c.6280C>T (p.Arg2094Trp)
c.6004C>T (p.Arg2002Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035260G>CCA198682427TNCc.3820C>G (p.Arg1274Gly)
c.4642C>G (p.Arg1548Gly)
c.2674C>G (p.Arg892Gly)
c.1330C>G (p.Arg444Gly)
c.4689C>G
c.5731C>G (p.Arg1911Gly)
c.5185C>G (p.Arg1729Gly)
c.4912C>G (p.Arg1638Gly)
n.313C>G
c.1418C>G
c.5458C>G (p.Arg1820Gly)
c.4639C>G (p.Arg1547Gly)
c.4093C>G (p.Arg1365Gly)
c.6007C>G (p.Arg2003Gly)
c.5734C>G (p.Arg1912Gly)
c.5188C>G (p.Arg1730Gly)
c.4915C>G (p.Arg1639Gly)
c.4366C>G (p.Arg1456Gly)
c.6280C>G (p.Arg2094Gly)
c.6004C>G (p.Arg2002Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.115035260G=CA1874113747TNCc.3820C= (p.Arg1274=)
c.4642C= (p.Arg1548=)
c.2674C= (p.Arg892=)
c.1330C= (p.Arg444=)
c.4689C=
c.5731C= (p.Arg1911=)
c.5185C= (p.Arg1729=)
c.4912C= (p.Arg1638=)
n.313C=
c.1418C=
c.5458C= (p.Arg1820=)
c.4639C= (p.Arg1547=)
c.4093C= (p.Arg1365=)
c.6007C= (p.Arg2003=)
c.5734C= (p.Arg1912=)
c.5188C= (p.Arg1730=)
c.4915C= (p.Arg1639=)
c.4366C= (p.Arg1456=)
c.6280C= (p.Arg2094=)
c.6004C= (p.Arg2002=)
9g.115035260G>TCA5207548TNCc.3820C>A (p.Arg1274=)
c.4642C>A (p.Arg1548=)
c.2674C>A (p.Arg892=)
c.1330C>A (p.Arg444=)
c.4689C>A
c.5731C>A (p.Arg1911=)
c.5185C>A (p.Arg1729=)
c.4912C>A (p.Arg1638=)
n.313C>A
c.1418C>A
c.5458C>A (p.Arg1820=)
c.4639C>A (p.Arg1547=)
c.4093C>A (p.Arg1365=)
c.6007C>A (p.Arg2003=)
c.5734C>A (p.Arg1912=)
c.5188C>A (p.Arg1730=)
c.4915C>A (p.Arg1639=)
c.4366C>A (p.Arg1456=)
c.6280C>A (p.Arg2094=)
c.6004C>A (p.Arg2002=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035266dupCA590154615TNCc.3820dup (p.Arg1274ProfsTer12)
c.4642dup (p.Arg1548ProfsTer12)
c.2674dup (p.Arg892ProfsTer12)
c.1330dup (p.Arg444ProfsTer12)
c.4689dup
c.5731dup (p.Arg1911ProfsTer12)
c.5185dup (p.Arg1729ProfsTer12)
c.4912dup (p.Arg1638ProfsTer12)
n.313dup
c.1418dup
c.5458dup (p.Arg1820ProfsTer12)
c.4639dup (p.Arg1547ProfsTer12)
c.4093dup (p.Arg1365ProfsTer12)
c.6007dup (p.Arg2003ProfsTer12)
c.5734dup (p.Arg1912ProfsTer12)
c.5188dup (p.Arg1730ProfsTer12)
c.4915dup (p.Arg1639ProfsTer12)
c.4366dup (p.Arg1456ProfsTer12)
c.6280dup (p.Arg2094ProfsTer12)
c.6004dup (p.Arg2002ProfsTer12)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.115035266delCA466790061TNCc.3820del (p.Arg1274GlyfsTer?)
c.4642del (p.Arg1548GlyfsTer?)
c.2674del (p.Arg892GlyfsTer?)
c.1330del (p.Arg444GlyfsTer?)
c.4689del
c.5731del (p.Arg1911GlyfsTer?)
c.5185del (p.Arg1729GlyfsTer?)
c.4912del (p.Arg1638GlyfsTer?)
n.313del
c.1418del
c.5458del (p.Arg1820GlyfsTer?)
c.4639del (p.Arg1547GlyfsTer?)
c.4093del (p.Arg1365GlyfsTer?)
c.6007del (p.Arg2003GlyfsTer?)
c.5734del (p.Arg1912GlyfsTer?)
c.5188del (p.Arg1730GlyfsTer?)
c.4915del (p.Arg1639GlyfsTer?)
c.4366del (p.Arg1456GlyfsTer?)
c.6280del (p.Arg2094GlyfsTer?)
c.6004del (p.Arg2002GlyfsTer?)
 gnomAD v2 gnomAD v4 COSMIC
9g.115035261G>ACA5207550TNCc.3819C>T (p.Pro1273=)
c.4641C>T (p.Pro1547=)
c.2673C>T (p.Pro891=)
c.1329C>T (p.Pro443=)
c.4688C>T
c.5730C>T (p.Pro1910=)
c.5184C>T (p.Pro1728=)
c.4911C>T (p.Pro1637=)
n.312C>T
c.1417C>T
c.5457C>T (p.Pro1819=)
c.4638C>T (p.Pro1546=)
c.4092C>T (p.Pro1364=)
c.6006C>T (p.Pro2002=)
c.5733C>T (p.Pro1911=)
c.5187C>T (p.Pro1729=)
c.4914C>T (p.Pro1638=)
c.4365C>T (p.Pro1455=)
c.6279C>T (p.Pro2093=)
c.6003C>T (p.Pro2001=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.115035261G>CCA466790072TNCc.3819C>G (p.Pro1273=)
c.4641C>G (p.Pro1547=)
c.2673C>G (p.Pro891=)
c.1329C>G (p.Pro443=)
c.4688C>G
c.5730C>G (p.Pro1910=)
c.5184C>G (p.Pro1728=)
c.4911C>G (p.Pro1637=)
n.312C>G
c.1417C>G
c.5457C>G (p.Pro1819=)
c.4638C>G (p.Pro1546=)
c.4092C>G (p.Pro1364=)
c.6006C>G (p.Pro2002=)
c.5733C>G (p.Pro1911=)
c.5187C>G (p.Pro1729=)
c.4914C>G (p.Pro1638=)
c.4365C>G (p.Pro1455=)
c.6279C>G (p.Pro2093=)
c.6003C>G (p.Pro2001=)
9g.115035261G=CA1874113748TNCc.3819C= (p.Pro1273=)
c.4641C= (p.Pro1547=)
c.2673C= (p.Pro891=)
c.1329C= (p.Pro443=)
c.4688C=
c.5730C= (p.Pro1910=)
c.5184C= (p.Pro1728=)
c.4911C= (p.Pro1637=)
n.312C=
c.1417C=
c.5457C= (p.Pro1819=)
c.4638C= (p.Pro1546=)
c.4092C= (p.Pro1364=)
c.6006C= (p.Pro2002=)
c.5733C= (p.Pro1911=)
c.5187C= (p.Pro1729=)
c.4914C= (p.Pro1638=)
c.4365C= (p.Pro1455=)
c.6279C= (p.Pro2093=)
c.6003C= (p.Pro2001=)
9g.115035261G>TCA466790075TNCc.3819C>A (p.Pro1273=)
c.4641C>A (p.Pro1547=)
c.2673C>A (p.Pro891=)
c.1329C>A (p.Pro443=)
c.4688C>A
c.5730C>A (p.Pro1910=)
c.5184C>A (p.Pro1728=)
c.4911C>A (p.Pro1637=)
n.312C>A
c.1417C>A
c.5457C>A (p.Pro1819=)
c.4638C>A (p.Pro1546=)
c.4092C>A (p.Pro1364=)
c.6006C>A (p.Pro2002=)
c.5733C>A (p.Pro1911=)
c.5187C>A (p.Pro1729=)
c.4914C>A (p.Pro1638=)
c.4365C>A (p.Pro1455=)
c.6279C>A (p.Pro2093=)
c.6003C>A (p.Pro2001=)
9g.115035262G>ACA5207551TNCc.3818C>T (p.Pro1273Leu)
c.4640C>T (p.Pro1547Leu)
c.2672C>T (p.Pro891Leu)
c.1328C>T (p.Pro443Leu)
c.4687C>T
c.5729C>T (p.Pro1910Leu)
c.5183C>T (p.Pro1728Leu)
c.4910C>T (p.Pro1637Leu)
n.311C>T
c.1416C>T
c.5456C>T (p.Pro1819Leu)
c.4637C>T (p.Pro1546Leu)
c.4091C>T (p.Pro1364Leu)
c.6005C>T (p.Pro2002Leu)
c.5732C>T (p.Pro1911Leu)
c.5186C>T (p.Pro1729Leu)
c.4913C>T (p.Pro1638Leu)
c.4364C>T (p.Pro1455Leu)
c.6278C>T (p.Pro2093Leu)
c.6002C>T (p.Pro2001Leu)
 dbSNP ExAC gnomAD v2
9g.115035262G>CCA5207552TNCc.3818C>G (p.Pro1273Arg)
c.4640C>G (p.Pro1547Arg)
c.2672C>G (p.Pro891Arg)
c.1328C>G (p.Pro443Arg)
c.4687C>G
c.5729C>G (p.Pro1910Arg)
c.5183C>G (p.Pro1728Arg)
c.4910C>G (p.Pro1637Arg)
n.311C>G
c.1416C>G
c.5456C>G (p.Pro1819Arg)
c.4637C>G (p.Pro1546Arg)
c.4091C>G (p.Pro1364Arg)
c.6005C>G (p.Pro2002Arg)
c.5732C>G (p.Pro1911Arg)
c.5186C>G (p.Pro1729Arg)
c.4913C>G (p.Pro1638Arg)
c.4364C>G (p.Pro1455Arg)
c.6278C>G (p.Pro2093Arg)
c.6002C>G (p.Pro2001Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035262G=CA1874113749TNCc.3818C= (p.Pro1273=)
c.4640C= (p.Pro1547=)
c.2672C= (p.Pro891=)
c.1328C= (p.Pro443=)
c.4687C=
c.5729C= (p.Pro1910=)
c.5183C= (p.Pro1728=)
c.4910C= (p.Pro1637=)
n.311C=
c.1416C=
c.5456C= (p.Pro1819=)
c.4637C= (p.Pro1546=)
c.4091C= (p.Pro1364=)
c.6005C= (p.Pro2002=)
c.5732C= (p.Pro1911=)
c.5186C= (p.Pro1729=)
c.4913C= (p.Pro1638=)
c.4364C= (p.Pro1455=)
c.6278C= (p.Pro2093=)
c.6002C= (p.Pro2001=)
9g.115035262G>TCA374626504TNCc.3818C>A (p.Pro1273His)
c.4640C>A (p.Pro1547His)
c.2672C>A (p.Pro891His)
c.1328C>A (p.Pro443His)
c.4687C>A
c.5729C>A (p.Pro1910His)
c.5183C>A (p.Pro1728His)
c.4910C>A (p.Pro1637His)
n.311C>A
c.1416C>A
c.5456C>A (p.Pro1819His)
c.4637C>A (p.Pro1546His)
c.4091C>A (p.Pro1364His)
c.6005C>A (p.Pro2002His)
c.5732C>A (p.Pro1911His)
c.5186C>A (p.Pro1729His)
c.4913C>A (p.Pro1638His)
c.4364C>A (p.Pro1455His)
c.6278C>A (p.Pro2093His)
c.6002C>A (p.Pro2001His)
9g.115035263G>ACA374626506TNCc.3817C>T (p.Pro1273Ser)
c.4639C>T (p.Pro1547Ser)
c.2671C>T (p.Pro891Ser)
c.1327C>T (p.Pro443Ser)
c.4686C>T
c.5728C>T (p.Pro1910Ser)
c.5182C>T (p.Pro1728Ser)
c.4909C>T (p.Pro1637Ser)
n.310C>T
c.1415C>T
c.5455C>T (p.Pro1819Ser)
c.4636C>T (p.Pro1546Ser)
c.4090C>T (p.Pro1364Ser)
c.6004C>T (p.Pro2002Ser)
c.5731C>T (p.Pro1911Ser)
c.5185C>T (p.Pro1729Ser)
c.4912C>T (p.Pro1638Ser)
c.4363C>T (p.Pro1455Ser)
c.6277C>T (p.Pro2093Ser)
c.6001C>T (p.Pro2001Ser)
 gnomAD v4
9g.115035263G>CCA374626507TNCc.3817C>G (p.Pro1273Ala)
c.4639C>G (p.Pro1547Ala)
c.2671C>G (p.Pro891Ala)
c.1327C>G (p.Pro443Ala)
c.4686C>G
c.5728C>G (p.Pro1910Ala)
c.5182C>G (p.Pro1728Ala)
c.4909C>G (p.Pro1637Ala)
n.310C>G
c.1415C>G
c.5455C>G (p.Pro1819Ala)
c.4636C>G (p.Pro1546Ala)
c.4090C>G (p.Pro1364Ala)
c.6004C>G (p.Pro2002Ala)
c.5731C>G (p.Pro1911Ala)
c.5185C>G (p.Pro1729Ala)
c.4912C>G (p.Pro1638Ala)
c.4363C>G (p.Pro1455Ala)
c.6277C>G (p.Pro2093Ala)
c.6001C>G (p.Pro2001Ala)
9g.115035263G>TCA374626505TNCc.3817C>A (p.Pro1273Thr)
c.4639C>A (p.Pro1547Thr)
c.2671C>A (p.Pro891Thr)
c.1327C>A (p.Pro443Thr)
c.4686C>A
c.5728C>A (p.Pro1910Thr)
c.5182C>A (p.Pro1728Thr)
c.4909C>A (p.Pro1637Thr)
n.310C>A
c.1415C>A
c.5455C>A (p.Pro1819Thr)
c.4636C>A (p.Pro1546Thr)
c.4090C>A (p.Pro1364Thr)
c.6004C>A (p.Pro2002Thr)
c.5731C>A (p.Pro1911Thr)
c.5185C>A (p.Pro1729Thr)
c.4912C>A (p.Pro1638Thr)
c.4363C>A (p.Pro1455Thr)
c.6277C>A (p.Pro2093Thr)
c.6001C>A (p.Pro2001Thr)
9g.115035264G>ACA466790091TNCc.3816C>T (p.Pro1272=)
c.4638C>T (p.Pro1546=)
c.2670C>T (p.Pro890=)
c.1326C>T (p.Pro442=)
c.4685C>T
c.5727C>T (p.Pro1909=)
c.5181C>T (p.Pro1727=)
c.4908C>T (p.Pro1636=)
n.309C>T
c.1414C>T
c.5454C>T (p.Pro1818=)
c.4635C>T (p.Pro1545=)
c.4089C>T (p.Pro1363=)
c.6003C>T (p.Pro2001=)
c.5730C>T (p.Pro1910=)
c.5184C>T (p.Pro1728=)
c.4911C>T (p.Pro1637=)
c.4362C>T (p.Pro1454=)
c.6276C>T (p.Pro2092=)
c.6000C>T (p.Pro2000=)
9g.115035264G>CCA466790095TNCc.3816C>G (p.Pro1272=)
c.4638C>G (p.Pro1546=)
c.2670C>G (p.Pro890=)
c.1326C>G (p.Pro442=)
c.4685C>G
c.5727C>G (p.Pro1909=)
c.5181C>G (p.Pro1727=)
c.4908C>G (p.Pro1636=)
n.309C>G
c.1414C>G
c.5454C>G (p.Pro1818=)
c.4635C>G (p.Pro1545=)
c.4089C>G (p.Pro1363=)
c.6003C>G (p.Pro2001=)
c.5730C>G (p.Pro1910=)
c.5184C>G (p.Pro1728=)
c.4911C>G (p.Pro1637=)
c.4362C>G (p.Pro1454=)
c.6276C>G (p.Pro2092=)
c.6000C>G (p.Pro2000=)
 gnomAD v4
9g.115035264G=CA1874113750TNCc.3816C= (p.Pro1272=)
c.4638C= (p.Pro1546=)
c.2670C= (p.Pro890=)
c.1326C= (p.Pro442=)
c.4685C=
c.5727C= (p.Pro1909=)
c.5181C= (p.Pro1727=)
c.4908C= (p.Pro1636=)
n.309C=
c.1414C=
c.5454C= (p.Pro1818=)
c.4635C= (p.Pro1545=)
c.4089C= (p.Pro1363=)
c.6003C= (p.Pro2001=)
c.5730C= (p.Pro1910=)
c.5184C= (p.Pro1728=)
c.4911C= (p.Pro1637=)
c.4362C= (p.Pro1454=)
c.6276C= (p.Pro2092=)
c.6000C= (p.Pro2000=)
9g.115035264G>TCA5207553TNCc.3816C>A (p.Pro1272=)
c.4638C>A (p.Pro1546=)
c.2670C>A (p.Pro890=)
c.1326C>A (p.Pro442=)
c.4685C>A
c.5727C>A (p.Pro1909=)
c.5181C>A (p.Pro1727=)
c.4908C>A (p.Pro1636=)
n.309C>A
c.1414C>A
c.5454C>A (p.Pro1818=)
c.4635C>A (p.Pro1545=)
c.4089C>A (p.Pro1363=)
c.6003C>A (p.Pro2001=)
c.5730C>A (p.Pro1910=)
c.5184C>A (p.Pro1728=)
c.4911C>A (p.Pro1637=)
c.4362C>A (p.Pro1454=)
c.6276C>A (p.Pro2092=)
c.6000C>A (p.Pro2000=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035265G>ACA5207554TNCc.3815C>T (p.Pro1272Leu)
c.4637C>T (p.Pro1546Leu)
c.2669C>T (p.Pro890Leu)
c.1325C>T (p.Pro442Leu)
c.4684C>T
c.5726C>T (p.Pro1909Leu)
c.5180C>T (p.Pro1727Leu)
c.4907C>T (p.Pro1636Leu)
n.308C>T
c.1413C>T
c.5453C>T (p.Pro1818Leu)
c.4634C>T (p.Pro1545Leu)
c.4088C>T (p.Pro1363Leu)
c.6002C>T (p.Pro2001Leu)
c.5729C>T (p.Pro1910Leu)
c.5183C>T (p.Pro1728Leu)
c.4910C>T (p.Pro1637Leu)
c.4361C>T (p.Pro1454Leu)
c.6275C>T (p.Pro2092Leu)
c.5999C>T (p.Pro2000Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035265G>CCA374626508TNCc.3815C>G (p.Pro1272Arg)
c.4637C>G (p.Pro1546Arg)
c.2669C>G (p.Pro890Arg)
c.1325C>G (p.Pro442Arg)
c.4684C>G
c.5726C>G (p.Pro1909Arg)
c.5180C>G (p.Pro1727Arg)
c.4907C>G (p.Pro1636Arg)
n.308C>G
c.1413C>G
c.5453C>G (p.Pro1818Arg)
c.4634C>G (p.Pro1545Arg)
c.4088C>G (p.Pro1363Arg)
c.6002C>G (p.Pro2001Arg)
c.5729C>G (p.Pro1910Arg)
c.5183C>G (p.Pro1728Arg)
c.4910C>G (p.Pro1637Arg)
c.4361C>G (p.Pro1454Arg)
c.6275C>G (p.Pro2092Arg)
c.5999C>G (p.Pro2000Arg)
9g.115035265G=CA1874113751TNCc.3815C= (p.Pro1272=)
c.4637C= (p.Pro1546=)
c.2669C= (p.Pro890=)
c.1325C= (p.Pro442=)
c.4684C=
c.5726C= (p.Pro1909=)
c.5180C= (p.Pro1727=)
c.4907C= (p.Pro1636=)
n.308C=
c.1413C=
c.5453C= (p.Pro1818=)
c.4634C= (p.Pro1545=)
c.4088C= (p.Pro1363=)
c.6002C= (p.Pro2001=)
c.5729C= (p.Pro1910=)
c.5183C= (p.Pro1728=)
c.4910C= (p.Pro1637=)
c.4361C= (p.Pro1454=)
c.6275C= (p.Pro2092=)
c.5999C= (p.Pro2000=)
9g.115035265G>TCA374626509TNCc.3815C>A (p.Pro1272His)
c.4637C>A (p.Pro1546His)
c.2669C>A (p.Pro890His)
c.1325C>A (p.Pro442His)
c.4684C>A
c.5726C>A (p.Pro1909His)
c.5180C>A (p.Pro1727His)
c.4907C>A (p.Pro1636His)
n.308C>A
c.1413C>A
c.5453C>A (p.Pro1818His)
c.4634C>A (p.Pro1545His)
c.4088C>A (p.Pro1363His)
c.6002C>A (p.Pro2001His)
c.5729C>A (p.Pro1910His)
c.5183C>A (p.Pro1728His)
c.4910C>A (p.Pro1637His)
c.4361C>A (p.Pro1454His)
c.6275C>A (p.Pro2092His)
c.5999C>A (p.Pro2000His)
 ClinVar dbSNP
9g.115035266G>ACA374626510TNCc.3814C>T (p.Pro1272Ser)
c.4636C>T (p.Pro1546Ser)
c.2668C>T (p.Pro890Ser)
c.1324C>T (p.Pro442Ser)
c.4683C>T
c.5725C>T (p.Pro1909Ser)
c.5179C>T (p.Pro1727Ser)
c.4906C>T (p.Pro1636Ser)
n.307C>T
c.1412C>T
c.5452C>T (p.Pro1818Ser)
c.4633C>T (p.Pro1545Ser)
c.4087C>T (p.Pro1363Ser)
c.6001C>T (p.Pro2001Ser)
c.5728C>T (p.Pro1910Ser)
c.5182C>T (p.Pro1728Ser)
c.4909C>T (p.Pro1637Ser)
c.4360C>T (p.Pro1454Ser)
c.6274C>T (p.Pro2092Ser)
c.5998C>T (p.Pro2000Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.115035266G>CCA374626511TNCc.3814C>G (p.Pro1272Ala)
c.4636C>G (p.Pro1546Ala)
c.2668C>G (p.Pro890Ala)
c.1324C>G (p.Pro442Ala)
c.4683C>G
c.5725C>G (p.Pro1909Ala)
c.5179C>G (p.Pro1727Ala)
c.4906C>G (p.Pro1636Ala)
n.307C>G
c.1412C>G
c.5452C>G (p.Pro1818Ala)
c.4633C>G (p.Pro1545Ala)
c.4087C>G (p.Pro1363Ala)
c.6001C>G (p.Pro2001Ala)
c.5728C>G (p.Pro1910Ala)
c.5182C>G (p.Pro1728Ala)
c.4909C>G (p.Pro1637Ala)
c.4360C>G (p.Pro1454Ala)
c.6274C>G (p.Pro2092Ala)
c.5998C>G (p.Pro2000Ala)
9g.115035266G=CA1874113752TNCc.3814C= (p.Pro1272=)
c.4636C= (p.Pro1546=)
c.2668C= (p.Pro890=)
c.1324C= (p.Pro442=)
c.4683C=
c.5725C= (p.Pro1909=)
c.5179C= (p.Pro1727=)
c.4906C= (p.Pro1636=)
n.307C=
c.1412C=
c.5452C= (p.Pro1818=)
c.4633C= (p.Pro1545=)
c.4087C= (p.Pro1363=)
c.6001C= (p.Pro2001=)
c.5728C= (p.Pro1910=)
c.5182C= (p.Pro1728=)
c.4909C= (p.Pro1637=)
c.4360C= (p.Pro1454=)
c.6274C= (p.Pro2092=)
c.5998C= (p.Pro2000=)
9g.115035266G>TCA374626512TNCc.3814C>A (p.Pro1272Thr)
c.4636C>A (p.Pro1546Thr)
c.2668C>A (p.Pro890Thr)
c.1324C>A (p.Pro442Thr)
c.4683C>A
c.5725C>A (p.Pro1909Thr)
c.5179C>A (p.Pro1727Thr)
c.4906C>A (p.Pro1636Thr)
n.307C>A
c.1412C>A
c.5452C>A (p.Pro1818Thr)
c.4633C>A (p.Pro1545Thr)
c.4087C>A (p.Pro1363Thr)
c.6001C>A (p.Pro2001Thr)
c.5728C>A (p.Pro1910Thr)
c.5182C>A (p.Pro1728Thr)
c.4909C>A (p.Pro1637Thr)
c.4360C>A (p.Pro1454Thr)
c.6274C>A (p.Pro2092Thr)
c.5998C>A (p.Pro2000Thr)
 gnomAD v4
9g.115035267T>ACA5207555TNCc.3813A>T (p.Arg1271=)
c.4635A>T (p.Arg1545=)
c.2667A>T (p.Arg889=)
c.1323A>T (p.Arg441=)
c.4682A>T
c.5724A>T (p.Arg1908=)
c.5178A>T (p.Arg1726=)
c.4905A>T (p.Arg1635=)
n.306A>T
c.1411A>T
c.5451A>T (p.Arg1817=)
c.4632A>T (p.Arg1544=)
c.4086A>T (p.Arg1362=)
c.6000A>T (p.Arg2000=)
c.5727A>T (p.Arg1909=)
c.5181A>T (p.Arg1727=)
c.4908A>T (p.Arg1636=)
c.4359A>T (p.Arg1453=)
c.6273A>T (p.Arg2091=)
c.5997A>T (p.Arg1999=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115035267T>CCA466790110TNCc.3813A>G (p.Arg1271=)
c.4635A>G (p.Arg1545=)
c.2667A>G (p.Arg889=)
c.1323A>G (p.Arg441=)
c.4682A>G
c.5724A>G (p.Arg1908=)
c.5178A>G (p.Arg1726=)
c.4905A>G (p.Arg1635=)
n.306A>G
c.1411A>G
c.5451A>G (p.Arg1817=)
c.4632A>G (p.Arg1544=)
c.4086A>G (p.Arg1362=)
c.6000A>G (p.Arg2000=)
c.5727A>G (p.Arg1909=)
c.5181A>G (p.Arg1727=)
c.4908A>G (p.Arg1636=)
c.4359A>G (p.Arg1453=)
c.6273A>G (p.Arg2091=)
c.5997A>G (p.Arg1999=)
9g.115035267T>GCA466790112TNCc.3813A>C (p.Arg1271=)
c.4635A>C (p.Arg1545=)
c.2667A>C (p.Arg889=)
c.1323A>C (p.Arg441=)
c.4682A>C
c.5724A>C (p.Arg1908=)
c.5178A>C (p.Arg1726=)
c.4905A>C (p.Arg1635=)
n.306A>C
c.1411A>C
c.5451A>C (p.Arg1817=)
c.4632A>C (p.Arg1544=)
c.4086A>C (p.Arg1362=)
c.6000A>C (p.Arg2000=)
c.5727A>C (p.Arg1909=)
c.5181A>C (p.Arg1727=)
c.4908A>C (p.Arg1636=)
c.4359A>C (p.Arg1453=)
c.6273A>C (p.Arg2091=)
c.5997A>C (p.Arg1999=)
9g.115035267T=CA1874113753TNCc.3813A= (p.Arg1271=)
c.4635A= (p.Arg1545=)
c.2667A= (p.Arg889=)
c.1323A= (p.Arg441=)
c.4682A=
c.5724A= (p.Arg1908=)
c.5178A= (p.Arg1726=)
c.4905A= (p.Arg1635=)
n.306A=
c.1411A=
c.5451A= (p.Arg1817=)
c.4632A= (p.Arg1544=)
c.4086A= (p.Arg1362=)
c.6000A= (p.Arg2000=)
c.5727A= (p.Arg1909=)
c.5181A= (p.Arg1727=)
c.4908A= (p.Arg1636=)
c.4359A= (p.Arg1453=)
c.6273A= (p.Arg2091=)
c.5997A= (p.Arg1999=)
9g.115035268C>ACA374626513TNCc.3812G>T (p.Arg1271Leu)
c.4634G>T (p.Arg1545Leu)
c.2666G>T (p.Arg889Leu)
c.1322G>T (p.Arg441Leu)
c.4681G>T
c.5723G>T (p.Arg1908Leu)
c.5177G>T (p.Arg1726Leu)
c.4904G>T (p.Arg1635Leu)
n.305G>T
c.1410G>T
c.5450G>T (p.Arg1817Leu)
c.4631G>T (p.Arg1544Leu)
c.4085G>T (p.Arg1362Leu)
c.5999G>T (p.Arg2000Leu)
c.5726G>T (p.Arg1909Leu)
c.5180G>T (p.Arg1727Leu)
c.4907G>T (p.Arg1636Leu)
c.4358G>T (p.Arg1453Leu)
c.6272G>T (p.Arg2091Leu)
c.5996G>T (p.Arg1999Leu)
 dbSNP
9g.115035268C=CA1874113754TNCc.3812G= (p.Arg1271=)
c.4634G= (p.Arg1545=)
c.2666G= (p.Arg889=)
c.1322G= (p.Arg441=)
c.4681G=
c.5723G= (p.Arg1908=)
c.5177G= (p.Arg1726=)
c.4904G= (p.Arg1635=)
n.305G=
c.1410G=
c.5450G= (p.Arg1817=)
c.4631G= (p.Arg1544=)
c.4085G= (p.Arg1362=)
c.5999G= (p.Arg2000=)
c.5726G= (p.Arg1909=)
c.5180G= (p.Arg1727=)
c.4907G= (p.Arg1636=)
c.4358G= (p.Arg1453=)
c.6272G= (p.Arg2091=)
c.5996G= (p.Arg1999=)
9g.115035268C>GCA374626514TNCc.3812G>C (p.Arg1271Pro)
c.4634G>C (p.Arg1545Pro)
c.2666G>C (p.Arg889Pro)
c.1322G>C (p.Arg441Pro)
c.4681G>C
c.5723G>C (p.Arg1908Pro)
c.5177G>C (p.Arg1726Pro)
c.4904G>C (p.Arg1635Pro)
n.305G>C
c.1410G>C
c.5450G>C (p.Arg1817Pro)
c.4631G>C (p.Arg1544Pro)
c.4085G>C (p.Arg1362Pro)
c.5999G>C (p.Arg2000Pro)
c.5726G>C (p.Arg1909Pro)
c.5180G>C (p.Arg1727Pro)
c.4907G>C (p.Arg1636Pro)
c.4358G>C (p.Arg1453Pro)
c.6272G>C (p.Arg2091Pro)
c.5996G>C (p.Arg1999Pro)
9g.115035268C>TCA198682450TNCc.3812G>A (p.Arg1271Gln)
c.4634G>A (p.Arg1545Gln)
c.2666G>A (p.Arg889Gln)
c.1322G>A (p.Arg441Gln)
c.4681G>A
c.5723G>A (p.Arg1908Gln)
c.5177G>A (p.Arg1726Gln)
c.4904G>A (p.Arg1635Gln)
n.305G>A
c.1410G>A
c.5450G>A (p.Arg1817Gln)
c.4631G>A (p.Arg1544Gln)
c.4085G>A (p.Arg1362Gln)
c.5999G>A (p.Arg2000Gln)
c.5726G>A (p.Arg1909Gln)
c.5180G>A (p.Arg1727Gln)
c.4907G>A (p.Arg1636Gln)
c.4358G>A (p.Arg1453Gln)
c.6272G>A (p.Arg2091Gln)
c.5996G>A (p.Arg1999Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115035269G>ACA198682454TNCc.3811C>T (p.Arg1271Ter)
c.4633C>T (p.Arg1545Ter)
c.2665C>T (p.Arg889Ter)
c.1321C>T (p.Arg441Ter)
c.4680C>T
c.5722C>T (p.Arg1908Ter)
c.5176C>T (p.Arg1726Ter)
c.4903C>T (p.Arg1635Ter)
n.304C>T
c.1409C>T
c.5449C>T (p.Arg1817Ter)
c.4630C>T (p.Arg1544Ter)
c.4084C>T (p.Arg1362Ter)
c.5998C>T (p.Arg2000Ter)
c.5725C>T (p.Arg1909Ter)
c.5179C>T (p.Arg1727Ter)
c.4906C>T (p.Arg1636Ter)
c.4357C>T (p.Arg1453Ter)
c.6271C>T (p.Arg2091Ter)
c.5995C>T (p.Arg1999Ter)
 dbSNP gnomAD v2 gnomAD v4
9g.115035269G>CCA374626515TNCc.3811C>G (p.Arg1271Gly)
c.4633C>G (p.Arg1545Gly)
c.2665C>G (p.Arg889Gly)
c.1321C>G (p.Arg441Gly)
c.4680C>G
c.5722C>G (p.Arg1908Gly)
c.5176C>G (p.Arg1726Gly)
c.4903C>G (p.Arg1635Gly)
n.304C>G
c.1409C>G
c.5449C>G (p.Arg1817Gly)
c.4630C>G (p.Arg1544Gly)
c.4084C>G (p.Arg1362Gly)
c.5998C>G (p.Arg2000Gly)
c.5725C>G (p.Arg1909Gly)
c.5179C>G (p.Arg1727Gly)
c.4906C>G (p.Arg1636Gly)
c.4357C>G (p.Arg1453Gly)
c.6271C>G (p.Arg2091Gly)
c.5995C>G (p.Arg1999Gly)
9g.115035269G=CA1874113755TNCc.3811C= (p.Arg1271=)
c.4633C= (p.Arg1545=)
c.2665C= (p.Arg889=)
c.1321C= (p.Arg441=)
c.4680C=
c.5722C= (p.Arg1908=)
c.5176C= (p.Arg1726=)
c.4903C= (p.Arg1635=)
n.304C=
c.1409C=
c.5449C= (p.Arg1817=)
c.4630C= (p.Arg1544=)
c.4084C= (p.Arg1362=)
c.5998C= (p.Arg2000=)
c.5725C= (p.Arg1909=)
c.5179C= (p.Arg1727=)
c.4906C= (p.Arg1636=)
c.4357C= (p.Arg1453=)
c.6271C= (p.Arg2091=)
c.5995C= (p.Arg1999=)
9g.115035269G>TCA5207556TNCc.3811C>A (p.Arg1271=)
c.4633C>A (p.Arg1545=)
c.2665C>A (p.Arg889=)
c.1321C>A (p.Arg441=)
c.4680C>A
c.5722C>A (p.Arg1908=)
c.5176C>A (p.Arg1726=)
c.4903C>A (p.Arg1635=)
n.304C>A
c.1409C>A
c.5449C>A (p.Arg1817=)
c.4630C>A (p.Arg1544=)
c.4084C>A (p.Arg1362=)
c.5998C>A (p.Arg2000=)
c.5725C>A (p.Arg1909=)
c.5179C>A (p.Arg1727=)
c.4906C>A (p.Arg1636=)
c.4357C>A (p.Arg1453=)
c.6271C>A (p.Arg2091=)
c.5995C>A (p.Arg1999=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035270C>ACA374626516TNCc.3810G>T (p.Trp1270Cys)
c.4632G>T (p.Trp1544Cys)
c.2664G>T (p.Trp888Cys)
c.1320G>T (p.Trp440Cys)
c.4679G>T
c.5721G>T (p.Trp1907Cys)
c.5175G>T (p.Trp1725Cys)
c.4902G>T (p.Trp1634Cys)
n.303G>T
c.1408G>T
c.5448G>T (p.Trp1816Cys)
c.4629G>T (p.Trp1543Cys)
c.4083G>T (p.Trp1361Cys)
c.5997G>T (p.Trp1999Cys)
c.5724G>T (p.Trp1908Cys)
c.5178G>T (p.Trp1726Cys)
c.4905G>T (p.Trp1635Cys)
c.4356G>T (p.Trp1452Cys)
c.6270G>T (p.Trp2090Cys)
c.5994G>T (p.Trp1998Cys)
9g.115035270C>GCA374626518TNCc.3810G>C (p.Trp1270Cys)
c.4632G>C (p.Trp1544Cys)
c.2664G>C (p.Trp888Cys)
c.1320G>C (p.Trp440Cys)
c.4679G>C
c.5721G>C (p.Trp1907Cys)
c.5175G>C (p.Trp1725Cys)
c.4902G>C (p.Trp1634Cys)
n.303G>C
c.1408G>C
c.5448G>C (p.Trp1816Cys)
c.4629G>C (p.Trp1543Cys)
c.4083G>C (p.Trp1361Cys)
c.5997G>C (p.Trp1999Cys)
c.5724G>C (p.Trp1908Cys)
c.5178G>C (p.Trp1726Cys)
c.4905G>C (p.Trp1635Cys)
c.4356G>C (p.Trp1452Cys)
c.6270G>C (p.Trp2090Cys)
c.5994G>C (p.Trp1998Cys)
9g.115035270C>TCA374626517TNCc.3810G>A (p.Trp1270Ter)
c.4632G>A (p.Trp1544Ter)
c.2664G>A (p.Trp888Ter)
c.1320G>A (p.Trp440Ter)
c.4679G>A
c.5721G>A (p.Trp1907Ter)
c.5175G>A (p.Trp1725Ter)
c.4902G>A (p.Trp1634Ter)
n.303G>A
c.1408G>A
c.5448G>A (p.Trp1816Ter)
c.4629G>A (p.Trp1543Ter)
c.4083G>A (p.Trp1361Ter)
c.5997G>A (p.Trp1999Ter)
c.5724G>A (p.Trp1908Ter)
c.5178G>A (p.Trp1726Ter)
c.4905G>A (p.Trp1635Ter)
c.4356G>A (p.Trp1452Ter)
c.6270G>A (p.Trp2090Ter)
c.5994G>A (p.Trp1998Ter)
9g.115035271C>ACA374626519TNCc.3809G>T (p.Trp1270Leu)
c.4631G>T (p.Trp1544Leu)
c.2663G>T (p.Trp888Leu)
c.1319G>T (p.Trp440Leu)
c.4678G>T
c.5720G>T (p.Trp1907Leu)
c.5174G>T (p.Trp1725Leu)
c.4901G>T (p.Trp1634Leu)
n.302G>T
c.1407G>T
c.5447G>T (p.Trp1816Leu)
c.4628G>T (p.Trp1543Leu)
c.4082G>T (p.Trp1361Leu)
c.5996G>T (p.Trp1999Leu)
c.5723G>T (p.Trp1908Leu)
c.5177G>T (p.Trp1726Leu)
c.4904G>T (p.Trp1635Leu)
c.4355G>T (p.Trp1452Leu)
c.6269G>T (p.Trp2090Leu)
c.5993G>T (p.Trp1998Leu)
9g.115035271C>GCA374626520TNCc.3809G>C (p.Trp1270Ser)
c.4631G>C (p.Trp1544Ser)
c.2663G>C (p.Trp888Ser)
c.1319G>C (p.Trp440Ser)
c.4678G>C
c.5720G>C (p.Trp1907Ser)
c.5174G>C (p.Trp1725Ser)
c.4901G>C (p.Trp1634Ser)
n.302G>C
c.1407G>C
c.5447G>C (p.Trp1816Ser)
c.4628G>C (p.Trp1543Ser)
c.4082G>C (p.Trp1361Ser)
c.5996G>C (p.Trp1999Ser)
c.5723G>C (p.Trp1908Ser)
c.5177G>C (p.Trp1726Ser)
c.4904G>C (p.Trp1635Ser)
c.4355G>C (p.Trp1452Ser)
c.6269G>C (p.Trp2090Ser)
c.5993G>C (p.Trp1998Ser)
9g.115035271C>TCA374626521TNCc.3809G>A (p.Trp1270Ter)
c.4631G>A (p.Trp1544Ter)
c.2663G>A (p.Trp888Ter)
c.1319G>A (p.Trp440Ter)
c.4678G>A
c.5720G>A (p.Trp1907Ter)
c.5174G>A (p.Trp1725Ter)
c.4901G>A (p.Trp1634Ter)
n.302G>A
c.1407G>A
c.5447G>A (p.Trp1816Ter)
c.4628G>A (p.Trp1543Ter)
c.4082G>A (p.Trp1361Ter)
c.5996G>A (p.Trp1999Ter)
c.5723G>A (p.Trp1908Ter)
c.5177G>A (p.Trp1726Ter)
c.4904G>A (p.Trp1635Ter)
c.4355G>A (p.Trp1452Ter)
c.6269G>A (p.Trp2090Ter)
c.5993G>A (p.Trp1998Ter)
9g.115035272A>CCA374626522TNCc.3808T>G (p.Trp1270Gly)
c.4630T>G (p.Trp1544Gly)
c.2662T>G (p.Trp888Gly)
c.1318T>G (p.Trp440Gly)
c.4677T>G
c.5719T>G (p.Trp1907Gly)
c.5173T>G (p.Trp1725Gly)
c.4900T>G (p.Trp1634Gly)
n.301T>G
c.1406T>G
c.5446T>G (p.Trp1816Gly)
c.4627T>G (p.Trp1543Gly)
c.4081T>G (p.Trp1361Gly)
c.5995T>G (p.Trp1999Gly)
c.5722T>G (p.Trp1908Gly)
c.5176T>G (p.Trp1726Gly)
c.4903T>G (p.Trp1635Gly)
c.4354T>G (p.Trp1452Gly)
c.6268T>G (p.Trp2090Gly)
c.5992T>G (p.Trp1998Gly)
9g.115035272A>GCA374626523TNCc.3808T>C (p.Trp1270Arg)
c.4630T>C (p.Trp1544Arg)
c.2662T>C (p.Trp888Arg)
c.1318T>C (p.Trp440Arg)
c.4677T>C
c.5719T>C (p.Trp1907Arg)
c.5173T>C (p.Trp1725Arg)
c.4900T>C (p.Trp1634Arg)
n.301T>C
c.1406T>C
c.5446T>C (p.Trp1816Arg)
c.4627T>C (p.Trp1543Arg)
c.4081T>C (p.Trp1361Arg)
c.5995T>C (p.Trp1999Arg)
c.5722T>C (p.Trp1908Arg)
c.5176T>C (p.Trp1726Arg)
c.4903T>C (p.Trp1635Arg)
c.4354T>C (p.Trp1452Arg)
c.6268T>C (p.Trp2090Arg)
c.5992T>C (p.Trp1998Arg)
9g.115035272A>TCA374626524TNCc.3808T>A (p.Trp1270Arg)
c.4630T>A (p.Trp1544Arg)
c.2662T>A (p.Trp888Arg)
c.1318T>A (p.Trp440Arg)
c.4677T>A
c.5719T>A (p.Trp1907Arg)
c.5173T>A (p.Trp1725Arg)
c.4900T>A (p.Trp1634Arg)
n.301T>A
c.1406T>A
c.5446T>A (p.Trp1816Arg)
c.4627T>A (p.Trp1543Arg)
c.4081T>A (p.Trp1361Arg)
c.5995T>A (p.Trp1999Arg)
c.5722T>A (p.Trp1908Arg)
c.5176T>A (p.Trp1726Arg)
c.4903T>A (p.Trp1635Arg)
c.4354T>A (p.Trp1452Arg)
c.6268T>A (p.Trp2090Arg)
c.5992T>A (p.Trp1998Arg)
9g.115035273G>ACA466790142TNCc.3807C>T (p.Thr1269=)
c.4629C>T (p.Thr1543=)
c.2661C>T (p.Thr887=)
c.1317C>T (p.Thr439=)
c.4676C>T
c.5718C>T (p.Thr1906=)
c.5172C>T (p.Thr1724=)
c.4899C>T (p.Thr1633=)
n.300C>T
c.1405C>T
c.5445C>T (p.Thr1815=)
c.4626C>T (p.Thr1542=)
c.4080C>T (p.Thr1360=)
c.5994C>T (p.Thr1998=)
c.5721C>T (p.Thr1907=)
c.5175C>T (p.Thr1725=)
c.4902C>T (p.Thr1634=)
c.4353C>T (p.Thr1451=)
c.6267C>T (p.Thr2089=)
c.5991C>T (p.Thr1997=)
9g.115035273G>CCA466790144TNCc.3807C>G (p.Thr1269=)
c.4629C>G (p.Thr1543=)
c.2661C>G (p.Thr887=)
c.1317C>G (p.Thr439=)
c.4676C>G
c.5718C>G (p.Thr1906=)
c.5172C>G (p.Thr1724=)
c.4899C>G (p.Thr1633=)
n.300C>G
c.1405C>G
c.5445C>G (p.Thr1815=)
c.4626C>G (p.Thr1542=)
c.4080C>G (p.Thr1360=)
c.5994C>G (p.Thr1998=)
c.5721C>G (p.Thr1907=)
c.5175C>G (p.Thr1725=)
c.4902C>G (p.Thr1634=)
c.4353C>G (p.Thr1451=)
c.6267C>G (p.Thr2089=)
c.5991C>G (p.Thr1997=)
9g.115035273G>TCA466790140TNCc.3807C>A (p.Thr1269=)
c.4629C>A (p.Thr1543=)
c.2661C>A (p.Thr887=)
c.1317C>A (p.Thr439=)
c.4676C>A
c.5718C>A (p.Thr1906=)
c.5172C>A (p.Thr1724=)
c.4899C>A (p.Thr1633=)
n.300C>A
c.1405C>A
c.5445C>A (p.Thr1815=)
c.4626C>A (p.Thr1542=)
c.4080C>A (p.Thr1360=)
c.5994C>A (p.Thr1998=)
c.5721C>A (p.Thr1907=)
c.5175C>A (p.Thr1725=)
c.4902C>A (p.Thr1634=)
c.4353C>A (p.Thr1451=)
c.6267C>A (p.Thr2089=)
c.5991C>A (p.Thr1997=)
9g.115035274G>ACA374626525TNCc.3806C>T (p.Thr1269Ile)
c.4628C>T (p.Thr1543Ile)
c.2660C>T (p.Thr887Ile)
c.1316C>T (p.Thr439Ile)
c.4675C>T
c.5717C>T (p.Thr1906Ile)
c.5171C>T (p.Thr1724Ile)
c.4898C>T (p.Thr1633Ile)
n.299C>T
c.1404C>T
c.5444C>T (p.Thr1815Ile)
c.4625C>T (p.Thr1542Ile)
c.4079C>T (p.Thr1360Ile)
c.5993C>T (p.Thr1998Ile)
c.5720C>T (p.Thr1907Ile)
c.5174C>T (p.Thr1725Ile)
c.4901C>T (p.Thr1634Ile)
c.4352C>T (p.Thr1451Ile)
c.6266C>T (p.Thr2089Ile)
c.5990C>T (p.Thr1997Ile)
9g.115035274G>CCA374626526TNCc.3806C>G (p.Thr1269Ser)
c.4628C>G (p.Thr1543Ser)
c.2660C>G (p.Thr887Ser)
c.1316C>G (p.Thr439Ser)
c.4675C>G
c.5717C>G (p.Thr1906Ser)
c.5171C>G (p.Thr1724Ser)
c.4898C>G (p.Thr1633Ser)
n.299C>G
c.1404C>G
c.5444C>G (p.Thr1815Ser)
c.4625C>G (p.Thr1542Ser)
c.4079C>G (p.Thr1360Ser)
c.5993C>G (p.Thr1998Ser)
c.5720C>G (p.Thr1907Ser)
c.5174C>G (p.Thr1725Ser)
c.4901C>G (p.Thr1634Ser)
c.4352C>G (p.Thr1451Ser)
c.6266C>G (p.Thr2089Ser)
c.5990C>G (p.Thr1997Ser)
9g.115035274G>TCA374626527TNCc.3806C>A (p.Thr1269Asn)
c.4628C>A (p.Thr1543Asn)
c.2660C>A (p.Thr887Asn)
c.1316C>A (p.Thr439Asn)
c.4675C>A
c.5717C>A (p.Thr1906Asn)
c.5171C>A (p.Thr1724Asn)
c.4898C>A (p.Thr1633Asn)
n.299C>A
c.1404C>A
c.5444C>A (p.Thr1815Asn)
c.4625C>A (p.Thr1542Asn)
c.4079C>A (p.Thr1360Asn)
c.5993C>A (p.Thr1998Asn)
c.5720C>A (p.Thr1907Asn)
c.5174C>A (p.Thr1725Asn)
c.4901C>A (p.Thr1634Asn)
c.4352C>A (p.Thr1451Asn)
c.6266C>A (p.Thr2089Asn)
c.5990C>A (p.Thr1997Asn)
9g.115035275T>ACA374626528TNCc.3805A>T (p.Thr1269Ser)
c.4627A>T (p.Thr1543Ser)
c.2659A>T (p.Thr887Ser)
c.1315A>T (p.Thr439Ser)
c.4674A>T
c.5716A>T (p.Thr1906Ser)
c.5170A>T (p.Thr1724Ser)
c.4897A>T (p.Thr1633Ser)
n.298A>T
c.1403A>T
c.5443A>T (p.Thr1815Ser)
c.4624A>T (p.Thr1542Ser)
c.4078A>T (p.Thr1360Ser)
c.5992A>T (p.Thr1998Ser)
c.5719A>T (p.Thr1907Ser)
c.5173A>T (p.Thr1725Ser)
c.4900A>T (p.Thr1634Ser)
c.4351A>T (p.Thr1451Ser)
c.6265A>T (p.Thr2089Ser)
c.5989A>T (p.Thr1997Ser)
9g.115035275T>CCA374626529TNCc.3805A>G (p.Thr1269Ala)
c.4627A>G (p.Thr1543Ala)
c.2659A>G (p.Thr887Ala)
c.1315A>G (p.Thr439Ala)
c.4674A>G
c.5716A>G (p.Thr1906Ala)
c.5170A>G (p.Thr1724Ala)
c.4897A>G (p.Thr1633Ala)
n.298A>G
c.1403A>G
c.5443A>G (p.Thr1815Ala)
c.4624A>G (p.Thr1542Ala)
c.4078A>G (p.Thr1360Ala)
c.5992A>G (p.Thr1998Ala)
c.5719A>G (p.Thr1907Ala)
c.5173A>G (p.Thr1725Ala)
c.4900A>G (p.Thr1634Ala)
c.4351A>G (p.Thr1451Ala)
c.6265A>G (p.Thr2089Ala)
c.5989A>G (p.Thr1997Ala)
 gnomAD v4
9g.115035275T>GCA374626530TNCc.3805A>C (p.Thr1269Pro)
c.4627A>C (p.Thr1543Pro)
c.2659A>C (p.Thr887Pro)
c.1315A>C (p.Thr439Pro)
c.4674A>C
c.5716A>C (p.Thr1906Pro)
c.5170A>C (p.Thr1724Pro)
c.4897A>C (p.Thr1633Pro)
n.298A>C
c.1403A>C
c.5443A>C (p.Thr1815Pro)
c.4624A>C (p.Thr1542Pro)
c.4078A>C (p.Thr1360Pro)
c.5992A>C (p.Thr1998Pro)
c.5719A>C (p.Thr1907Pro)
c.5173A>C (p.Thr1725Pro)
c.4900A>C (p.Thr1634Pro)
c.4351A>C (p.Thr1451Pro)
c.6265A>C (p.Thr2089Pro)
c.5989A>C (p.Thr1997Pro)
9g.115035276A>CCA466790155TNCc.3804T>G (p.Leu1268=)
c.4626T>G (p.Leu1542=)
c.2658T>G (p.Leu886=)
c.1314T>G (p.Leu438=)
c.4673T>G
c.5715T>G (p.Leu1905=)
c.5169T>G (p.Leu1723=)
c.4896T>G (p.Leu1632=)
n.297T>G
c.1402T>G
c.5442T>G (p.Leu1814=)
c.4623T>G (p.Leu1541=)
c.4077T>G (p.Leu1359=)
c.5991T>G (p.Leu1997=)
c.5718T>G (p.Leu1906=)
c.5172T>G (p.Leu1724=)
c.4899T>G (p.Leu1633=)
c.4350T>G (p.Leu1450=)
c.6264T>G (p.Leu2088=)
c.5988T>G (p.Leu1996=)
9g.115035276A>GCA466790157TNCc.3804T>C (p.Leu1268=)
c.4626T>C (p.Leu1542=)
c.2658T>C (p.Leu886=)
c.1314T>C (p.Leu438=)
c.4673T>C
c.5715T>C (p.Leu1905=)
c.5169T>C (p.Leu1723=)
c.4896T>C (p.Leu1632=)
n.297T>C
c.1402T>C
c.5442T>C (p.Leu1814=)
c.4623T>C (p.Leu1541=)
c.4077T>C (p.Leu1359=)
c.5991T>C (p.Leu1997=)
c.5718T>C (p.Leu1906=)
c.5172T>C (p.Leu1724=)
c.4899T>C (p.Leu1633=)
c.4350T>C (p.Leu1450=)
c.6264T>C (p.Leu2088=)
c.5988T>C (p.Leu1996=)
9g.115035276A>TCA466790160TNCc.3804T>A (p.Leu1268=)
c.4626T>A (p.Leu1542=)
c.2658T>A (p.Leu886=)
c.1314T>A (p.Leu438=)
c.4673T>A
c.5715T>A (p.Leu1905=)
c.5169T>A (p.Leu1723=)
c.4896T>A (p.Leu1632=)
n.297T>A
c.1402T>A
c.5442T>A (p.Leu1814=)
c.4623T>A (p.Leu1541=)
c.4077T>A (p.Leu1359=)
c.5991T>A (p.Leu1997=)
c.5718T>A (p.Leu1906=)
c.5172T>A (p.Leu1724=)
c.4899T>A (p.Leu1633=)
c.4350T>A (p.Leu1450=)
c.6264T>A (p.Leu2088=)
c.5988T>A (p.Leu1996=)
9g.115035277A>CCA374626533TNCc.3803T>G (p.Leu1268Arg)
c.4625T>G (p.Leu1542Arg)
c.2657T>G (p.Leu886Arg)
c.1313T>G (p.Leu438Arg)
c.4672T>G
c.5714T>G (p.Leu1905Arg)
c.5168T>G (p.Leu1723Arg)
c.4895T>G (p.Leu1632Arg)
n.296T>G
c.1401T>G
c.5441T>G (p.Leu1814Arg)
c.4622T>G (p.Leu1541Arg)
c.4076T>G (p.Leu1359Arg)
c.5990T>G (p.Leu1997Arg)
c.5717T>G (p.Leu1906Arg)
c.5171T>G (p.Leu1724Arg)
c.4898T>G (p.Leu1633Arg)
c.4349T>G (p.Leu1450Arg)
c.6263T>G (p.Leu2088Arg)
c.5987T>G (p.Leu1996Arg)
9g.115035277A>GCA374626532TNCc.3803T>C (p.Leu1268Pro)
c.4625T>C (p.Leu1542Pro)
c.2657T>C (p.Leu886Pro)
c.1313T>C (p.Leu438Pro)
c.4672T>C
c.5714T>C (p.Leu1905Pro)
c.5168T>C (p.Leu1723Pro)
c.4895T>C (p.Leu1632Pro)
n.296T>C
c.1401T>C
c.5441T>C (p.Leu1814Pro)
c.4622T>C (p.Leu1541Pro)
c.4076T>C (p.Leu1359Pro)
c.5990T>C (p.Leu1997Pro)
c.5717T>C (p.Leu1906Pro)
c.5171T>C (p.Leu1724Pro)
c.4898T>C (p.Leu1633Pro)
c.4349T>C (p.Leu1450Pro)
c.6263T>C (p.Leu2088Pro)
c.5987T>C (p.Leu1996Pro)
9g.115035277A>TCA374626531TNCc.3803T>A (p.Leu1268His)
c.4625T>A (p.Leu1542His)
c.2657T>A (p.Leu886His)
c.1313T>A (p.Leu438His)
c.4672T>A
c.5714T>A (p.Leu1905His)
c.5168T>A (p.Leu1723His)
c.4895T>A (p.Leu1632His)
n.296T>A
c.1401T>A
c.5441T>A (p.Leu1814His)
c.4622T>A (p.Leu1541His)
c.4076T>A (p.Leu1359His)
c.5990T>A (p.Leu1997His)
c.5717T>A (p.Leu1906His)
c.5171T>A (p.Leu1724His)
c.4898T>A (p.Leu1633His)
c.4349T>A (p.Leu1450His)
c.6263T>A (p.Leu2088His)
c.5987T>A (p.Leu1996His)
9g.115035278G>ACA5207557TNCc.3802C>T (p.Leu1268Phe)
c.4624C>T (p.Leu1542Phe)
c.2656C>T (p.Leu886Phe)
c.1312C>T (p.Leu438Phe)
c.4671C>T
c.5713C>T (p.Leu1905Phe)
c.5167C>T (p.Leu1723Phe)
c.4894C>T (p.Leu1632Phe)
n.295C>T
c.1400C>T
c.5440C>T (p.Leu1814Phe)
c.4621C>T (p.Leu1541Phe)
c.4075C>T (p.Leu1359Phe)
c.5989C>T (p.Leu1997Phe)
c.5716C>T (p.Leu1906Phe)
c.5170C>T (p.Leu1724Phe)
c.4897C>T (p.Leu1633Phe)
c.4348C>T (p.Leu1450Phe)
c.6262C>T (p.Leu2088Phe)
c.5986C>T (p.Leu1996Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035278G>CCA374626535TNCc.3802C>G (p.Leu1268Val)
c.4624C>G (p.Leu1542Val)
c.2656C>G (p.Leu886Val)
c.1312C>G (p.Leu438Val)
c.4671C>G
c.5713C>G (p.Leu1905Val)
c.5167C>G (p.Leu1723Val)
c.4894C>G (p.Leu1632Val)
n.295C>G
c.1400C>G
c.5440C>G (p.Leu1814Val)
c.4621C>G (p.Leu1541Val)
c.4075C>G (p.Leu1359Val)
c.5989C>G (p.Leu1997Val)
c.5716C>G (p.Leu1906Val)
c.5170C>G (p.Leu1724Val)
c.4897C>G (p.Leu1633Val)
c.4348C>G (p.Leu1450Val)
c.6262C>G (p.Leu2088Val)
c.5986C>G (p.Leu1996Val)
9g.115035278G=CA1874113756TNCc.3802C= (p.Leu1268=)
c.4624C= (p.Leu1542=)
c.2656C= (p.Leu886=)
c.1312C= (p.Leu438=)
c.4671C=
c.5713C= (p.Leu1905=)
c.5167C= (p.Leu1723=)
c.4894C= (p.Leu1632=)
n.295C=
c.1400C=
c.5440C= (p.Leu1814=)
c.4621C= (p.Leu1541=)
c.4075C= (p.Leu1359=)
c.5989C= (p.Leu1997=)
c.5716C= (p.Leu1906=)
c.5170C= (p.Leu1724=)
c.4897C= (p.Leu1633=)
c.4348C= (p.Leu1450=)
c.6262C= (p.Leu2088=)
c.5986C= (p.Leu1996=)
9g.115035278G>TCA374626534TNCc.3802C>A (p.Leu1268Ile)
c.4624C>A (p.Leu1542Ile)
c.2656C>A (p.Leu886Ile)
c.1312C>A (p.Leu438Ile)
c.4671C>A
c.5713C>A (p.Leu1905Ile)
c.5167C>A (p.Leu1723Ile)
c.4894C>A (p.Leu1632Ile)
n.295C>A
c.1400C>A
c.5440C>A (p.Leu1814Ile)
c.4621C>A (p.Leu1541Ile)
c.4075C>A (p.Leu1359Ile)
c.5989C>A (p.Leu1997Ile)
c.5716C>A (p.Leu1906Ile)
c.5170C>A (p.Leu1724Ile)
c.4897C>A (p.Leu1633Ile)
c.4348C>A (p.Leu1450Ile)
c.6262C>A (p.Leu2088Ile)
c.5986C>A (p.Leu1996Ile)
9g.115035279G>ACA466790176TNCc.3801C>T (p.Leu1267=)
c.4623C>T (p.Leu1541=)
c.2655C>T (p.Leu885=)
c.1311C>T (p.Leu437=)
c.4670C>T
c.5712C>T (p.Leu1904=)
c.5166C>T (p.Leu1722=)
c.4893C>T (p.Leu1631=)
n.294C>T
c.1399C>T
c.5439C>T (p.Leu1813=)
c.4620C>T (p.Leu1540=)
c.4074C>T (p.Leu1358=)
c.5988C>T (p.Leu1996=)
c.5715C>T (p.Leu1905=)
c.5169C>T (p.Leu1723=)
c.4896C>T (p.Leu1632=)
c.4347C>T (p.Leu1449=)
c.6261C>T (p.Leu2087=)
c.5985C>T (p.Leu1995=)
9g.115035279G>CCA466790178TNCc.3801C>G (p.Leu1267=)
c.4623C>G (p.Leu1541=)
c.2655C>G (p.Leu885=)
c.1311C>G (p.Leu437=)
c.4670C>G
c.5712C>G (p.Leu1904=)
c.5166C>G (p.Leu1722=)
c.4893C>G (p.Leu1631=)
n.294C>G
c.1399C>G
c.5439C>G (p.Leu1813=)
c.4620C>G (p.Leu1540=)
c.4074C>G (p.Leu1358=)
c.5988C>G (p.Leu1996=)
c.5715C>G (p.Leu1905=)
c.5169C>G (p.Leu1723=)
c.4896C>G (p.Leu1632=)
c.4347C>G (p.Leu1449=)
c.6261C>G (p.Leu2087=)
c.5985C>G (p.Leu1995=)
9g.115035279G>TCA466790181TNCc.3801C>A (p.Leu1267=)
c.4623C>A (p.Leu1541=)
c.2655C>A (p.Leu885=)
c.1311C>A (p.Leu437=)
c.4670C>A
c.5712C>A (p.Leu1904=)
c.5166C>A (p.Leu1722=)
c.4893C>A (p.Leu1631=)
n.294C>A
c.1399C>A
c.5439C>A (p.Leu1813=)
c.4620C>A (p.Leu1540=)
c.4074C>A (p.Leu1358=)
c.5988C>A (p.Leu1996=)
c.5715C>A (p.Leu1905=)
c.5169C>A (p.Leu1723=)
c.4896C>A (p.Leu1632=)
c.4347C>A (p.Leu1449=)
c.6261C>A (p.Leu2087=)
c.5985C>A (p.Leu1995=)
9g.115035280A>CCA374626536TNCc.3800T>G (p.Leu1267Arg)
c.4622T>G (p.Leu1541Arg)
c.2654T>G (p.Leu885Arg)
c.1310T>G (p.Leu437Arg)
c.4669T>G
c.5711T>G (p.Leu1904Arg)
c.5165T>G (p.Leu1722Arg)
c.4892T>G (p.Leu1631Arg)
n.293T>G
c.1398T>G
c.5438T>G (p.Leu1813Arg)
c.4619T>G (p.Leu1540Arg)
c.4073T>G (p.Leu1358Arg)
c.5987T>G (p.Leu1996Arg)
c.5714T>G (p.Leu1905Arg)
c.5168T>G (p.Leu1723Arg)
c.4895T>G (p.Leu1632Arg)
c.4346T>G (p.Leu1449Arg)
c.6260T>G (p.Leu2087Arg)
c.5984T>G (p.Leu1995Arg)
9g.115035280A>GCA374626538TNCc.3800T>C (p.Leu1267Pro)
c.4622T>C (p.Leu1541Pro)
c.2654T>C (p.Leu885Pro)
c.1310T>C (p.Leu437Pro)
c.4669T>C
c.5711T>C (p.Leu1904Pro)
c.5165T>C (p.Leu1722Pro)
c.4892T>C (p.Leu1631Pro)
n.293T>C
c.1398T>C
c.5438T>C (p.Leu1813Pro)
c.4619T>C (p.Leu1540Pro)
c.4073T>C (p.Leu1358Pro)
c.5987T>C (p.Leu1996Pro)
c.5714T>C (p.Leu1905Pro)
c.5168T>C (p.Leu1723Pro)
c.4895T>C (p.Leu1632Pro)
c.4346T>C (p.Leu1449Pro)
c.6260T>C (p.Leu2087Pro)
c.5984T>C (p.Leu1995Pro)
9g.115035280A>TCA374626537TNCc.3800T>A (p.Leu1267His)
c.4622T>A (p.Leu1541His)
c.2654T>A (p.Leu885His)
c.1310T>A (p.Leu437His)
c.4669T>A
c.5711T>A (p.Leu1904His)
c.5165T>A (p.Leu1722His)
c.4892T>A (p.Leu1631His)
n.293T>A
c.1398T>A
c.5438T>A (p.Leu1813His)
c.4619T>A (p.Leu1540His)
c.4073T>A (p.Leu1358His)
c.5987T>A (p.Leu1996His)
c.5714T>A (p.Leu1905His)
c.5168T>A (p.Leu1723His)
c.4895T>A (p.Leu1632His)
c.4346T>A (p.Leu1449His)
c.6260T>A (p.Leu2087His)
c.5984T>A (p.Leu1995His)
9g.115035281G>ACA5207558TNCc.3799C>T (p.Leu1267Phe)
c.4621C>T (p.Leu1541Phe)
c.2653C>T (p.Leu885Phe)
c.1309C>T (p.Leu437Phe)
c.4668C>T
c.5710C>T (p.Leu1904Phe)
c.5164C>T (p.Leu1722Phe)
c.4891C>T (p.Leu1631Phe)
n.292C>T
c.1397C>T
c.5437C>T (p.Leu1813Phe)
c.4618C>T (p.Leu1540Phe)
c.4072C>T (p.Leu1358Phe)
c.5986C>T (p.Leu1996Phe)
c.5713C>T (p.Leu1905Phe)
c.5167C>T (p.Leu1723Phe)
c.4894C>T (p.Leu1632Phe)
c.4345C>T (p.Leu1449Phe)
c.6259C>T (p.Leu2087Phe)
c.5983C>T (p.Leu1995Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115035281G>CCA374626539TNCc.3799C>G (p.Leu1267Val)
c.4621C>G (p.Leu1541Val)
c.2653C>G (p.Leu885Val)
c.1309C>G (p.Leu437Val)
c.4668C>G
c.5710C>G (p.Leu1904Val)
c.5164C>G (p.Leu1722Val)
c.4891C>G (p.Leu1631Val)
n.292C>G
c.1397C>G
c.5437C>G (p.Leu1813Val)
c.4618C>G (p.Leu1540Val)
c.4072C>G (p.Leu1358Val)
c.5986C>G (p.Leu1996Val)
c.5713C>G (p.Leu1905Val)
c.5167C>G (p.Leu1723Val)
c.4894C>G (p.Leu1632Val)
c.4345C>G (p.Leu1449Val)
c.6259C>G (p.Leu2087Val)
c.5983C>G (p.Leu1995Val)
9g.115035281G=CA1874113757TNCc.3799C= (p.Leu1267=)
c.4621C= (p.Leu1541=)
c.2653C= (p.Leu885=)
c.1309C= (p.Leu437=)
c.4668C=
c.5710C= (p.Leu1904=)
c.5164C= (p.Leu1722=)
c.4891C= (p.Leu1631=)
n.292C=
c.1397C=
c.5437C= (p.Leu1813=)
c.4618C= (p.Leu1540=)
c.4072C= (p.Leu1358=)
c.5986C= (p.Leu1996=)
c.5713C= (p.Leu1905=)
c.5167C= (p.Leu1723=)
c.4894C= (p.Leu1632=)
c.4345C= (p.Leu1449=)
c.6259C= (p.Leu2087=)
c.5983C= (p.Leu1995=)
9g.115035281G>TCA374626540TNCc.3799C>A (p.Leu1267Ile)
c.4621C>A (p.Leu1541Ile)
c.2653C>A (p.Leu885Ile)
c.1309C>A (p.Leu437Ile)
c.4668C>A
c.5710C>A (p.Leu1904Ile)
c.5164C>A (p.Leu1722Ile)
c.4891C>A (p.Leu1631Ile)
n.292C>A
c.1397C>A
c.5437C>A (p.Leu1813Ile)
c.4618C>A (p.Leu1540Ile)
c.4072C>A (p.Leu1358Ile)
c.5986C>A (p.Leu1996Ile)
c.5713C>A (p.Leu1905Ile)
c.5167C>A (p.Leu1723Ile)
c.4894C>A (p.Leu1632Ile)
c.4345C>A (p.Leu1449Ile)
c.6259C>A (p.Leu2087Ile)
c.5983C>A (p.Leu1995Ile)
9g.115035282G>ACA5207559TNCc.3798C>T (p.Ala1266=)
c.4620C>T (p.Ala1540=)
c.2652C>T (p.Ala884=)
c.1308C>T (p.Ala436=)
c.4667C>T
c.5709C>T (p.Ala1903=)
c.5163C>T (p.Ala1721=)
c.4890C>T (p.Ala1630=)
n.291C>T
c.1396C>T
c.5436C>T (p.Ala1812=)
c.4617C>T (p.Ala1539=)
c.4071C>T (p.Ala1357=)
c.5985C>T (p.Ala1995=)
c.5712C>T (p.Ala1904=)
c.5166C>T (p.Ala1722=)
c.4893C>T (p.Ala1631=)
c.4344C>T (p.Ala1448=)
c.6258C>T (p.Ala2086=)
c.5982C>T (p.Ala1994=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035282G>CCA466790197TNCc.3798C>G (p.Ala1266=)
c.4620C>G (p.Ala1540=)
c.2652C>G (p.Ala884=)
c.1308C>G (p.Ala436=)
c.4667C>G
c.5709C>G (p.Ala1903=)
c.5163C>G (p.Ala1721=)
c.4890C>G (p.Ala1630=)
n.291C>G
c.1396C>G
c.5436C>G (p.Ala1812=)
c.4617C>G (p.Ala1539=)
c.4071C>G (p.Ala1357=)
c.5985C>G (p.Ala1995=)
c.5712C>G (p.Ala1904=)
c.5166C>G (p.Ala1722=)
c.4893C>G (p.Ala1631=)
c.4344C>G (p.Ala1448=)
c.6258C>G (p.Ala2086=)
c.5982C>G (p.Ala1994=)
9g.115035282G=CA1874113758TNCc.3798C= (p.Ala1266=)
c.4620C= (p.Ala1540=)
c.2652C= (p.Ala884=)
c.1308C= (p.Ala436=)
c.4667C=
c.5709C= (p.Ala1903=)
c.5163C= (p.Ala1721=)
c.4890C= (p.Ala1630=)
n.291C=
c.1396C=
c.5436C= (p.Ala1812=)
c.4617C= (p.Ala1539=)
c.4071C= (p.Ala1357=)
c.5985C= (p.Ala1995=)
c.5712C= (p.Ala1904=)
c.5166C= (p.Ala1722=)
c.4893C= (p.Ala1631=)
c.4344C= (p.Ala1448=)
c.6258C= (p.Ala2086=)
c.5982C= (p.Ala1994=)
9g.115035282G>TCA466790199TNCc.3798C>A (p.Ala1266=)
c.4620C>A (p.Ala1540=)
c.2652C>A (p.Ala884=)
c.1308C>A (p.Ala436=)
c.4667C>A
c.5709C>A (p.Ala1903=)
c.5163C>A (p.Ala1721=)
c.4890C>A (p.Ala1630=)
n.291C>A
c.1396C>A
c.5436C>A (p.Ala1812=)
c.4617C>A (p.Ala1539=)
c.4071C>A (p.Ala1357=)
c.5985C>A (p.Ala1995=)
c.5712C>A (p.Ala1904=)
c.5166C>A (p.Ala1722=)
c.4893C>A (p.Ala1631=)
c.4344C>A (p.Ala1448=)
c.6258C>A (p.Ala2086=)
c.5982C>A (p.Ala1994=)
9g.115035283G>ACA374626541TNCc.3797C>T (p.Ala1266Val)
c.4619C>T (p.Ala1540Val)
c.2651C>T (p.Ala884Val)
c.1307C>T (p.Ala436Val)
c.4666C>T
c.5708C>T (p.Ala1903Val)
c.5162C>T (p.Ala1721Val)
c.4889C>T (p.Ala1630Val)
n.290C>T
c.1395C>T
c.5435C>T (p.Ala1812Val)
c.4616C>T (p.Ala1539Val)
c.4070C>T (p.Ala1357Val)
c.5984C>T (p.Ala1995Val)
c.5711C>T (p.Ala1904Val)
c.5165C>T (p.Ala1722Val)
c.4892C>T (p.Ala1631Val)
c.4343C>T (p.Ala1448Val)
c.6257C>T (p.Ala2086Val)
c.5981C>T (p.Ala1994Val)
 dbSNP gnomAD v2 gnomAD v4
9g.115035283G>CCA374626542TNCc.3797C>G (p.Ala1266Gly)
c.4619C>G (p.Ala1540Gly)
c.2651C>G (p.Ala884Gly)
c.1307C>G (p.Ala436Gly)
c.4666C>G
c.5708C>G (p.Ala1903Gly)
c.5162C>G (p.Ala1721Gly)
c.4889C>G (p.Ala1630Gly)
n.290C>G
c.1395C>G
c.5435C>G (p.Ala1812Gly)
c.4616C>G (p.Ala1539Gly)
c.4070C>G (p.Ala1357Gly)
c.5984C>G (p.Ala1995Gly)
c.5711C>G (p.Ala1904Gly)
c.5165C>G (p.Ala1722Gly)
c.4892C>G (p.Ala1631Gly)
c.4343C>G (p.Ala1448Gly)
c.6257C>G (p.Ala2086Gly)
c.5981C>G (p.Ala1994Gly)
9g.115035283G=CA1874113759TNCc.3797C= (p.Ala1266=)
c.4619C= (p.Ala1540=)
c.2651C= (p.Ala884=)
c.1307C= (p.Ala436=)
c.4666C=
c.5708C= (p.Ala1903=)
c.5162C= (p.Ala1721=)
c.4889C= (p.Ala1630=)
n.290C=
c.1395C=
c.5435C= (p.Ala1812=)
c.4616C= (p.Ala1539=)
c.4070C= (p.Ala1357=)
c.5984C= (p.Ala1995=)
c.5711C= (p.Ala1904=)
c.5165C= (p.Ala1722=)
c.4892C= (p.Ala1631=)
c.4343C= (p.Ala1448=)
c.6257C= (p.Ala2086=)
c.5981C= (p.Ala1994=)
9g.115035283G>TCA374626543TNCc.3797C>A (p.Ala1266Asp)
c.4619C>A (p.Ala1540Asp)
c.2651C>A (p.Ala884Asp)
c.1307C>A (p.Ala436Asp)
c.4666C>A
c.5708C>A (p.Ala1903Asp)
c.5162C>A (p.Ala1721Asp)
c.4889C>A (p.Ala1630Asp)
n.290C>A
c.1395C>A
c.5435C>A (p.Ala1812Asp)
c.4616C>A (p.Ala1539Asp)
c.4070C>A (p.Ala1357Asp)
c.5984C>A (p.Ala1995Asp)
c.5711C>A (p.Ala1904Asp)
c.5165C>A (p.Ala1722Asp)
c.4892C>A (p.Ala1631Asp)
c.4343C>A (p.Ala1448Asp)
c.6257C>A (p.Ala2086Asp)
c.5981C>A (p.Ala1994Asp)
9g.115035284C>ACA198682468TNCc.3796G>T (p.Ala1266Ser)
c.4618G>T (p.Ala1540Ser)
c.2650G>T (p.Ala884Ser)
c.1306G>T (p.Ala436Ser)
c.4665G>T
c.5707G>T (p.Ala1903Ser)
c.5161G>T (p.Ala1721Ser)
c.4888G>T (p.Ala1630Ser)
n.289G>T
c.1394G>T
c.5434G>T (p.Ala1812Ser)
c.4615G>T (p.Ala1539Ser)
c.4069G>T (p.Ala1357Ser)
c.5983G>T (p.Ala1995Ser)
c.5710G>T (p.Ala1904Ser)
c.5164G>T (p.Ala1722Ser)
c.4891G>T (p.Ala1631Ser)
c.4342G>T (p.Ala1448Ser)
c.6256G>T (p.Ala2086Ser)
c.5980G>T (p.Ala1994Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.115035284C=CA1874113760TNCc.3796G= (p.Ala1266=)
c.4618G= (p.Ala1540=)
c.2650G= (p.Ala884=)
c.1306G= (p.Ala436=)
c.4665G=
c.5707G= (p.Ala1903=)
c.5161G= (p.Ala1721=)
c.4888G= (p.Ala1630=)
n.289G=
c.1394G=
c.5434G= (p.Ala1812=)
c.4615G= (p.Ala1539=)
c.4069G= (p.Ala1357=)
c.5983G= (p.Ala1995=)
c.5710G= (p.Ala1904=)
c.5164G= (p.Ala1722=)
c.4891G= (p.Ala1631=)
c.4342G= (p.Ala1448=)
c.6256G= (p.Ala2086=)
c.5980G= (p.Ala1994=)
9g.115035284C>GCA374626544TNCc.3796G>C (p.Ala1266Pro)
c.4618G>C (p.Ala1540Pro)
c.2650G>C (p.Ala884Pro)
c.1306G>C (p.Ala436Pro)
c.4665G>C
c.5707G>C (p.Ala1903Pro)
c.5161G>C (p.Ala1721Pro)
c.4888G>C (p.Ala1630Pro)
n.289G>C
c.1394G>C
c.5434G>C (p.Ala1812Pro)
c.4615G>C (p.Ala1539Pro)
c.4069G>C (p.Ala1357Pro)
c.5983G>C (p.Ala1995Pro)
c.5710G>C (p.Ala1904Pro)
c.5164G>C (p.Ala1722Pro)
c.4891G>C (p.Ala1631Pro)
c.4342G>C (p.Ala1448Pro)
c.6256G>C (p.Ala2086Pro)
c.5980G>C (p.Ala1994Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115035284C>TCA374626545TNCc.3796G>A (p.Ala1266Thr)
c.4618G>A (p.Ala1540Thr)
c.2650G>A (p.Ala884Thr)
c.1306G>A (p.Ala436Thr)
c.4665G>A
c.5707G>A (p.Ala1903Thr)
c.5161G>A (p.Ala1721Thr)
c.4888G>A (p.Ala1630Thr)
n.289G>A
c.1394G>A
c.5434G>A (p.Ala1812Thr)
c.4615G>A (p.Ala1539Thr)
c.4069G>A (p.Ala1357Thr)
c.5983G>A (p.Ala1995Thr)
c.5710G>A (p.Ala1904Thr)
c.5164G>A (p.Ala1722Thr)
c.4891G>A (p.Ala1631Thr)
c.4342G>A (p.Ala1448Thr)
c.6256G>A (p.Ala2086Thr)
c.5980G>A (p.Ala1994Thr)
 gnomAD v4
9g.115035285A=CA1874113761TNCc.3795T= (p.Thr1265=)
c.4617T= (p.Thr1539=)
c.2649T= (p.Thr883=)
c.1305T= (p.Thr435=)
c.4664T=
c.5706T= (p.Thr1902=)
c.5160T= (p.Thr1720=)
c.4887T= (p.Thr1629=)
n.288T=
c.1393T=
c.5433T= (p.Thr1811=)
c.4614T= (p.Thr1538=)
c.4068T= (p.Thr1356=)
c.5982T= (p.Thr1994=)
c.5709T= (p.Thr1903=)
c.5163T= (p.Thr1721=)
c.4890T= (p.Thr1630=)
c.4341T= (p.Thr1447=)
c.6255T= (p.Thr2085=)
c.5979T= (p.Thr1993=)
9g.115035285A>CCA466790215TNCc.3795T>G (p.Thr1265=)
c.4617T>G (p.Thr1539=)
c.2649T>G (p.Thr883=)
c.1305T>G (p.Thr435=)
c.4664T>G
c.5706T>G (p.Thr1902=)
c.5160T>G (p.Thr1720=)
c.4887T>G (p.Thr1629=)
n.288T>G
c.1393T>G
c.5433T>G (p.Thr1811=)
c.4614T>G (p.Thr1538=)
c.4068T>G (p.Thr1356=)
c.5982T>G (p.Thr1994=)
c.5709T>G (p.Thr1903=)
c.5163T>G (p.Thr1721=)
c.4890T>G (p.Thr1630=)
c.4341T>G (p.Thr1447=)
c.6255T>G (p.Thr2085=)
c.5979T>G (p.Thr1993=)
 dbSNP
9g.115035285A>GCA466790218TNCc.3795T>C (p.Thr1265=)
c.4617T>C (p.Thr1539=)
c.2649T>C (p.Thr883=)
c.1305T>C (p.Thr435=)
c.4664T>C
c.5706T>C (p.Thr1902=)
c.5160T>C (p.Thr1720=)
c.4887T>C (p.Thr1629=)
n.288T>C
c.1393T>C
c.5433T>C (p.Thr1811=)
c.4614T>C (p.Thr1538=)
c.4068T>C (p.Thr1356=)
c.5982T>C (p.Thr1994=)
c.5709T>C (p.Thr1903=)
c.5163T>C (p.Thr1721=)
c.4890T>C (p.Thr1630=)
c.4341T>C (p.Thr1447=)
c.6255T>C (p.Thr2085=)
c.5979T>C (p.Thr1993=)
9g.115035285A>TCA466790220TNCc.3795T>A (p.Thr1265=)
c.4617T>A (p.Thr1539=)
c.2649T>A (p.Thr883=)
c.1305T>A (p.Thr435=)
c.4664T>A
c.5706T>A (p.Thr1902=)
c.5160T>A (p.Thr1720=)
c.4887T>A (p.Thr1629=)
n.288T>A
c.1393T>A
c.5433T>A (p.Thr1811=)
c.4614T>A (p.Thr1538=)
c.4068T>A (p.Thr1356=)
c.5982T>A (p.Thr1994=)
c.5709T>A (p.Thr1903=)
c.5163T>A (p.Thr1721=)
c.4890T>A (p.Thr1630=)
c.4341T>A (p.Thr1447=)
c.6255T>A (p.Thr2085=)
c.5979T>A (p.Thr1993=)
9g.115035286G>ACA374626548TNCc.3794C>T (p.Thr1265Ile)
c.4616C>T (p.Thr1539Ile)
c.2648C>T (p.Thr883Ile)
c.1304C>T (p.Thr435Ile)
c.4663C>T
c.5705C>T (p.Thr1902Ile)
c.5159C>T (p.Thr1720Ile)
c.4886C>T (p.Thr1629Ile)
n.287C>T
c.1392C>T
c.5432C>T (p.Thr1811Ile)
c.4613C>T (p.Thr1538Ile)
c.4067C>T (p.Thr1356Ile)
c.5981C>T (p.Thr1994Ile)
c.5708C>T (p.Thr1903Ile)
c.5162C>T (p.Thr1721Ile)
c.4889C>T (p.Thr1630Ile)
c.4340C>T (p.Thr1447Ile)
c.6254C>T (p.Thr2085Ile)
c.5978C>T (p.Thr1993Ile)
 gnomAD v4
9g.115035286G>CCA374626547TNCc.3794C>G (p.Thr1265Ser)
c.4616C>G (p.Thr1539Ser)
c.2648C>G (p.Thr883Ser)
c.1304C>G (p.Thr435Ser)
c.4663C>G
c.5705C>G (p.Thr1902Ser)
c.5159C>G (p.Thr1720Ser)
c.4886C>G (p.Thr1629Ser)
n.287C>G
c.1392C>G
c.5432C>G (p.Thr1811Ser)
c.4613C>G (p.Thr1538Ser)
c.4067C>G (p.Thr1356Ser)
c.5981C>G (p.Thr1994Ser)
c.5708C>G (p.Thr1903Ser)
c.5162C>G (p.Thr1721Ser)
c.4889C>G (p.Thr1630Ser)
c.4340C>G (p.Thr1447Ser)
c.6254C>G (p.Thr2085Ser)
c.5978C>G (p.Thr1993Ser)
9g.115035286G>TCA374626546TNCc.3794C>A (p.Thr1265Asn)
c.4616C>A (p.Thr1539Asn)
c.2648C>A (p.Thr883Asn)
c.1304C>A (p.Thr435Asn)
c.4663C>A
c.5705C>A (p.Thr1902Asn)
c.5159C>A (p.Thr1720Asn)
c.4886C>A (p.Thr1629Asn)
n.287C>A
c.1392C>A
c.5432C>A (p.Thr1811Asn)
c.4613C>A (p.Thr1538Asn)
c.4067C>A (p.Thr1356Asn)
c.5981C>A (p.Thr1994Asn)
c.5708C>A (p.Thr1903Asn)
c.5162C>A (p.Thr1721Asn)
c.4889C>A (p.Thr1630Asn)
c.4340C>A (p.Thr1447Asn)
c.6254C>A (p.Thr2085Asn)
c.5978C>A (p.Thr1993Asn)
9g.115035287T>ACA374626549TNCc.3793A>T (p.Thr1265Ser)
c.4615A>T (p.Thr1539Ser)
c.2647A>T (p.Thr883Ser)
c.1303A>T (p.Thr435Ser)
c.4662A>T
c.5704A>T (p.Thr1902Ser)
c.5158A>T (p.Thr1720Ser)
c.4885A>T (p.Thr1629Ser)
n.286A>T
c.1391A>T
c.5431A>T (p.Thr1811Ser)
c.4612A>T (p.Thr1538Ser)
c.4066A>T (p.Thr1356Ser)
c.5980A>T (p.Thr1994Ser)
c.5707A>T (p.Thr1903Ser)
c.5161A>T (p.Thr1721Ser)
c.4888A>T (p.Thr1630Ser)
c.4339A>T (p.Thr1447Ser)
c.6253A>T (p.Thr2085Ser)
c.5977A>T (p.Thr1993Ser)
9g.115035287T>CCA374626550TNCc.3793A>G (p.Thr1265Ala)
c.4615A>G (p.Thr1539Ala)
c.2647A>G (p.Thr883Ala)
c.1303A>G (p.Thr435Ala)
c.4662A>G
c.5704A>G (p.Thr1902Ala)
c.5158A>G (p.Thr1720Ala)
c.4885A>G (p.Thr1629Ala)
n.286A>G
c.1391A>G
c.5431A>G (p.Thr1811Ala)
c.4612A>G (p.Thr1538Ala)
c.4066A>G (p.Thr1356Ala)
c.5980A>G (p.Thr1994Ala)
c.5707A>G (p.Thr1903Ala)
c.5161A>G (p.Thr1721Ala)
c.4888A>G (p.Thr1630Ala)
c.4339A>G (p.Thr1447Ala)
c.6253A>G (p.Thr2085Ala)
c.5977A>G (p.Thr1993Ala)
9g.115035287T>GCA374626551TNCc.3793A>C (p.Thr1265Pro)
c.4615A>C (p.Thr1539Pro)
c.2647A>C (p.Thr883Pro)
c.1303A>C (p.Thr435Pro)
c.4662A>C
c.5704A>C (p.Thr1902Pro)
c.5158A>C (p.Thr1720Pro)
c.4885A>C (p.Thr1629Pro)
n.286A>C
c.1391A>C
c.5431A>C (p.Thr1811Pro)
c.4612A>C (p.Thr1538Pro)
c.4066A>C (p.Thr1356Pro)
c.5980A>C (p.Thr1994Pro)
c.5707A>C (p.Thr1903Pro)
c.5161A>C (p.Thr1721Pro)
c.4888A>C (p.Thr1630Pro)
c.4339A>C (p.Thr1447Pro)
c.6253A>C (p.Thr2085Pro)
c.5977A>C (p.Thr1993Pro)
9g.115035288T>ACA374626552TNCc.3792A>T (p.Glu1264Asp)
c.4614A>T (p.Glu1538Asp)
c.2646A>T (p.Glu882Asp)
c.1302A>T (p.Glu434Asp)
c.4661A>T
c.5703A>T (p.Glu1901Asp)
c.5157A>T (p.Glu1719Asp)
c.4884A>T (p.Glu1628Asp)
n.285A>T
c.1390A>T
c.5430A>T (p.Glu1810Asp)
c.4611A>T (p.Glu1537Asp)
c.4065A>T (p.Glu1355Asp)
c.5979A>T (p.Glu1993Asp)
c.5706A>T (p.Glu1902Asp)
c.5160A>T (p.Glu1720Asp)
c.4887A>T (p.Glu1629Asp)
c.4338A>T (p.Glu1446Asp)
c.6252A>T (p.Glu2084Asp)
c.5976A>T (p.Glu1992Asp)
9g.115035288T>CCA466790235TNCc.3792A>G (p.Glu1264=)
c.4614A>G (p.Glu1538=)
c.2646A>G (p.Glu882=)
c.1302A>G (p.Glu434=)
c.4661A>G
c.5703A>G (p.Glu1901=)
c.5157A>G (p.Glu1719=)
c.4884A>G (p.Glu1628=)
n.285A>G
c.1390A>G
c.5430A>G (p.Glu1810=)
c.4611A>G (p.Glu1537=)
c.4065A>G (p.Glu1355=)
c.5979A>G (p.Glu1993=)
c.5706A>G (p.Glu1902=)
c.5160A>G (p.Glu1720=)
c.4887A>G (p.Glu1629=)
c.4338A>G (p.Glu1446=)
c.6252A>G (p.Glu2084=)
c.5976A>G (p.Glu1992=)
9g.115035288T>GCA374626553TNCc.3792A>C (p.Glu1264Asp)
c.4614A>C (p.Glu1538Asp)
c.2646A>C (p.Glu882Asp)
c.1302A>C (p.Glu434Asp)
c.4661A>C
c.5703A>C (p.Glu1901Asp)
c.5157A>C (p.Glu1719Asp)
c.4884A>C (p.Glu1628Asp)
n.285A>C
c.1390A>C
c.5430A>C (p.Glu1810Asp)
c.4611A>C (p.Glu1537Asp)
c.4065A>C (p.Glu1355Asp)
c.5979A>C (p.Glu1993Asp)
c.5706A>C (p.Glu1902Asp)
c.5160A>C (p.Glu1720Asp)
c.4887A>C (p.Glu1629Asp)
c.4338A>C (p.Glu1446Asp)
c.6252A>C (p.Glu2084Asp)
c.5976A>C (p.Glu1992Asp)
9g.115035289T>ACA374626554TNCc.3791A>T (p.Glu1264Val)
c.4613A>T (p.Glu1538Val)
c.2645A>T (p.Glu882Val)
c.1301A>T (p.Glu434Val)
c.4660A>T
c.5702A>T (p.Glu1901Val)
c.5156A>T (p.Glu1719Val)
c.4883A>T (p.Glu1628Val)
n.284A>T
c.1389A>T
c.5429A>T (p.Glu1810Val)
c.4610A>T (p.Glu1537Val)
c.4064A>T (p.Glu1355Val)
c.5978A>T (p.Glu1993Val)
c.5705A>T (p.Glu1902Val)
c.5159A>T (p.Glu1720Val)
c.4886A>T (p.Glu1629Val)
c.4337A>T (p.Glu1446Val)
c.6251A>T (p.Glu2084Val)
c.5975A>T (p.Glu1992Val)
9g.115035289T>CCA374626555TNCc.3791A>G (p.Glu1264Gly)
c.4613A>G (p.Glu1538Gly)
c.2645A>G (p.Glu882Gly)
c.1301A>G (p.Glu434Gly)
c.4660A>G
c.5702A>G (p.Glu1901Gly)
c.5156A>G (p.Glu1719Gly)
c.4883A>G (p.Glu1628Gly)
n.284A>G
c.1389A>G
c.5429A>G (p.Glu1810Gly)
c.4610A>G (p.Glu1537Gly)
c.4064A>G (p.Glu1355Gly)
c.5978A>G (p.Glu1993Gly)
c.5705A>G (p.Glu1902Gly)
c.5159A>G (p.Glu1720Gly)
c.4886A>G (p.Glu1629Gly)
c.4337A>G (p.Glu1446Gly)
c.6251A>G (p.Glu2084Gly)
c.5975A>G (p.Glu1992Gly)
9g.115035289T>GCA374626556TNCc.3791A>C (p.Glu1264Ala)
c.4613A>C (p.Glu1538Ala)
c.2645A>C (p.Glu882Ala)
c.1301A>C (p.Glu434Ala)
c.4660A>C
c.5702A>C (p.Glu1901Ala)
c.5156A>C (p.Glu1719Ala)
c.4883A>C (p.Glu1628Ala)
n.284A>C
c.1389A>C
c.5429A>C (p.Glu1810Ala)
c.4610A>C (p.Glu1537Ala)
c.4064A>C (p.Glu1355Ala)
c.5978A>C (p.Glu1993Ala)
c.5705A>C (p.Glu1902Ala)
c.5159A>C (p.Glu1720Ala)
c.4886A>C (p.Glu1629Ala)
c.4337A>C (p.Glu1446Ala)
c.6251A>C (p.Glu2084Ala)
c.5975A>C (p.Glu1992Ala)
9g.115035290C>ACA374626557TNCc.3790G>T (p.Glu1264Ter)
c.4612G>T (p.Glu1538Ter)
c.2644G>T (p.Glu882Ter)
c.1300G>T (p.Glu434Ter)
c.4659G>T
c.5701G>T (p.Glu1901Ter)
c.5155G>T (p.Glu1719Ter)
c.4882G>T (p.Glu1628Ter)
n.283G>T
c.1388G>T
c.5428G>T (p.Glu1810Ter)
c.4609G>T (p.Glu1537Ter)
c.4063G>T (p.Glu1355Ter)
c.5977G>T (p.Glu1993Ter)
c.5704G>T (p.Glu1902Ter)
c.5158G>T (p.Glu1720Ter)
c.4885G>T (p.Glu1629Ter)
c.4336G>T (p.Glu1446Ter)
c.6250G>T (p.Glu2084Ter)
c.5974G>T (p.Glu1992Ter)
9g.115035290C>GCA374626558TNCc.3790G>C (p.Glu1264Gln)
c.4612G>C (p.Glu1538Gln)
c.2644G>C (p.Glu882Gln)
c.1300G>C (p.Glu434Gln)
c.4659G>C
c.5701G>C (p.Glu1901Gln)
c.5155G>C (p.Glu1719Gln)
c.4882G>C (p.Glu1628Gln)
n.283G>C
c.1388G>C
c.5428G>C (p.Glu1810Gln)
c.4609G>C (p.Glu1537Gln)
c.4063G>C (p.Glu1355Gln)
c.5977G>C (p.Glu1993Gln)
c.5704G>C (p.Glu1902Gln)
c.5158G>C (p.Glu1720Gln)
c.4885G>C (p.Glu1629Gln)
c.4336G>C (p.Glu1446Gln)
c.6250G>C (p.Glu2084Gln)
c.5974G>C (p.Glu1992Gln)
9g.115035290C>TCA374626559TNCc.3790G>A (p.Glu1264Lys)
c.4612G>A (p.Glu1538Lys)
c.2644G>A (p.Glu882Lys)
c.1300G>A (p.Glu434Lys)
c.4659G>A
c.5701G>A (p.Glu1901Lys)
c.5155G>A (p.Glu1719Lys)
c.4882G>A (p.Glu1628Lys)
n.283G>A
c.1388G>A
c.5428G>A (p.Glu1810Lys)
c.4609G>A (p.Glu1537Lys)
c.4063G>A (p.Glu1355Lys)
c.5977G>A (p.Glu1993Lys)
c.5704G>A (p.Glu1902Lys)
c.5158G>A (p.Glu1720Lys)
c.4885G>A (p.Glu1629Lys)
c.4336G>A (p.Glu1446Lys)
c.6250G>A (p.Glu2084Lys)
c.5974G>A (p.Glu1992Lys)
9g.115035291C>ACA466790250TNCc.3789G>T (p.Ser1263=)
c.4611G>T (p.Ser1537=)
c.2643G>T (p.Ser881=)
c.1299G>T (p.Ser433=)
c.4658G>T
c.5700G>T (p.Ser1900=)
c.5154G>T (p.Ser1718=)
c.4881G>T (p.Ser1627=)
n.282G>T
c.1387G>T
c.5427G>T (p.Ser1809=)
c.4608G>T (p.Ser1536=)
c.4062G>T (p.Ser1354=)
c.5976G>T (p.Ser1992=)
c.5703G>T (p.Ser1901=)
c.5157G>T (p.Ser1719=)
c.4884G>T (p.Ser1628=)
c.4335G>T (p.Ser1445=)
c.6249G>T (p.Ser2083=)
c.5973G>T (p.Ser1991=)
9g.115035291C=CA1874113762TNCc.3789G= (p.Ser1263=)
c.4611G= (p.Ser1537=)
c.2643G= (p.Ser881=)
c.1299G= (p.Ser433=)
c.4658G=
c.5700G= (p.Ser1900=)
c.5154G= (p.Ser1718=)
c.4881G= (p.Ser1627=)
n.282G=
c.1387G=
c.5427G= (p.Ser1809=)
c.4608G= (p.Ser1536=)
c.4062G= (p.Ser1354=)
c.5976G= (p.Ser1992=)
c.5703G= (p.Ser1901=)
c.5157G= (p.Ser1719=)
c.4884G= (p.Ser1628=)
c.4335G= (p.Ser1445=)
c.6249G= (p.Ser2083=)
c.5973G= (p.Ser1991=)
9g.115035291C>GCA466790253TNCc.3789G>C (p.Ser1263=)
c.4611G>C (p.Ser1537=)
c.2643G>C (p.Ser881=)
c.1299G>C (p.Ser433=)
c.4658G>C
c.5700G>C (p.Ser1900=)
c.5154G>C (p.Ser1718=)
c.4881G>C (p.Ser1627=)
n.282G>C
c.1387G>C
c.5427G>C (p.Ser1809=)
c.4608G>C (p.Ser1536=)
c.4062G>C (p.Ser1354=)
c.5976G>C (p.Ser1992=)
c.5703G>C (p.Ser1901=)
c.5157G>C (p.Ser1719=)
c.4884G>C (p.Ser1628=)
c.4335G>C (p.Ser1445=)
c.6249G>C (p.Ser2083=)
c.5973G>C (p.Ser1991=)
9g.115035291C>TCA5207560TNCc.3789G>A (p.Ser1263=)
c.4611G>A (p.Ser1537=)
c.2643G>A (p.Ser881=)
c.1299G>A (p.Ser433=)
c.4658G>A
c.5700G>A (p.Ser1900=)
c.5154G>A (p.Ser1718=)
c.4881G>A (p.Ser1627=)
n.282G>A
c.1387G>A
c.5427G>A (p.Ser1809=)
c.4608G>A (p.Ser1536=)
c.4062G>A (p.Ser1354=)
c.5976G>A (p.Ser1992=)
c.5703G>A (p.Ser1901=)
c.5157G>A (p.Ser1719=)
c.4884G>A (p.Ser1628=)
c.4335G>A (p.Ser1445=)
c.6249G>A (p.Ser2083=)
c.5973G>A (p.Ser1991=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035292G>ACA5207562TNCc.3788C>T (p.Ser1263Leu)
c.4610C>T (p.Ser1537Leu)
c.2642C>T (p.Ser881Leu)
c.1298C>T (p.Ser433Leu)
c.4657C>T
c.5699C>T (p.Ser1900Leu)
c.5153C>T (p.Ser1718Leu)
c.4880C>T (p.Ser1627Leu)
n.281C>T
c.1386C>T
c.5426C>T (p.Ser1809Leu)
c.4607C>T (p.Ser1536Leu)
c.4061C>T (p.Ser1354Leu)
c.5975C>T (p.Ser1992Leu)
c.5702C>T (p.Ser1901Leu)
c.5156C>T (p.Ser1719Leu)
c.4883C>T (p.Ser1628Leu)
c.4334C>T (p.Ser1445Leu)
c.6248C>T (p.Ser2083Leu)
c.5972C>T (p.Ser1991Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035292G>CCA374626560TNCc.3788C>G (p.Ser1263Trp)
c.4610C>G (p.Ser1537Trp)
c.2642C>G (p.Ser881Trp)
c.1298C>G (p.Ser433Trp)
c.4657C>G
c.5699C>G (p.Ser1900Trp)
c.5153C>G (p.Ser1718Trp)
c.4880C>G (p.Ser1627Trp)
n.281C>G
c.1386C>G
c.5426C>G (p.Ser1809Trp)
c.4607C>G (p.Ser1536Trp)
c.4061C>G (p.Ser1354Trp)
c.5975C>G (p.Ser1992Trp)
c.5702C>G (p.Ser1901Trp)
c.5156C>G (p.Ser1719Trp)
c.4883C>G (p.Ser1628Trp)
c.4334C>G (p.Ser1445Trp)
c.6248C>G (p.Ser2083Trp)
c.5972C>G (p.Ser1991Trp)
 dbSNP
9g.115035292G=CA1874113763TNCc.3788C= (p.Ser1263=)
c.4610C= (p.Ser1537=)
c.2642C= (p.Ser881=)
c.1298C= (p.Ser433=)
c.4657C=
c.5699C= (p.Ser1900=)
c.5153C= (p.Ser1718=)
c.4880C= (p.Ser1627=)
n.281C=
c.1386C=
c.5426C= (p.Ser1809=)
c.4607C= (p.Ser1536=)
c.4061C= (p.Ser1354=)
c.5975C= (p.Ser1992=)
c.5702C= (p.Ser1901=)
c.5156C= (p.Ser1719=)
c.4883C= (p.Ser1628=)
c.4334C= (p.Ser1445=)
c.6248C= (p.Ser2083=)
c.5972C= (p.Ser1991=)
9g.115035292G>TCA5207561TNCc.3788C>A (p.Ser1263Ter)
c.4610C>A (p.Ser1537Ter)
c.2642C>A (p.Ser881Ter)
c.1298C>A (p.Ser433Ter)
c.4657C>A
c.5699C>A (p.Ser1900Ter)
c.5153C>A (p.Ser1718Ter)
c.4880C>A (p.Ser1627Ter)
n.281C>A
c.1386C>A
c.5426C>A (p.Ser1809Ter)
c.4607C>A (p.Ser1536Ter)
c.4061C>A (p.Ser1354Ter)
c.5975C>A (p.Ser1992Ter)
c.5702C>A (p.Ser1901Ter)
c.5156C>A (p.Ser1719Ter)
c.4883C>A (p.Ser1628Ter)
c.4334C>A (p.Ser1445Ter)
c.6248C>A (p.Ser2083Ter)
c.5972C>A (p.Ser1991Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115035293A>CCA374626563TNCc.3787T>G (p.Ser1263Ala)
c.4609T>G (p.Ser1537Ala)
c.2641T>G (p.Ser881Ala)
c.1297T>G (p.Ser433Ala)
c.4656T>G
c.5698T>G (p.Ser1900Ala)
c.5152T>G (p.Ser1718Ala)
c.4879T>G (p.Ser1627Ala)
n.280T>G
c.1385T>G
c.5425T>G (p.Ser1809Ala)
c.4606T>G (p.Ser1536Ala)
c.4060T>G (p.Ser1354Ala)
c.5974T>G (p.Ser1992Ala)
c.5701T>G (p.Ser1901Ala)
c.5155T>G (p.Ser1719Ala)
c.4882T>G (p.Ser1628Ala)
c.4333T>G (p.Ser1445Ala)
c.6247T>G (p.Ser2083Ala)
c.5971T>G (p.Ser1991Ala)
9g.115035293A>GCA374626561TNCc.3787T>C (p.Ser1263Pro)
c.4609T>C (p.Ser1537Pro)
c.2641T>C (p.Ser881Pro)
c.1297T>C (p.Ser433Pro)
c.4656T>C
c.5698T>C (p.Ser1900Pro)
c.5152T>C (p.Ser1718Pro)
c.4879T>C (p.Ser1627Pro)
n.280T>C
c.1385T>C
c.5425T>C (p.Ser1809Pro)
c.4606T>C (p.Ser1536Pro)
c.4060T>C (p.Ser1354Pro)
c.5974T>C (p.Ser1992Pro)
c.5701T>C (p.Ser1901Pro)
c.5155T>C (p.Ser1719Pro)
c.4882T>C (p.Ser1628Pro)
c.4333T>C (p.Ser1445Pro)
c.6247T>C (p.Ser2083Pro)
c.5971T>C (p.Ser1991Pro)
9g.115035293A>TCA374626562TNCc.3787T>A (p.Ser1263Thr)
c.4609T>A (p.Ser1537Thr)
c.2641T>A (p.Ser881Thr)
c.1297T>A (p.Ser433Thr)
c.4656T>A
c.5698T>A (p.Ser1900Thr)
c.5152T>A (p.Ser1718Thr)
c.4879T>A (p.Ser1627Thr)
n.280T>A
c.1385T>A
c.5425T>A (p.Ser1809Thr)
c.4606T>A (p.Ser1536Thr)
c.4060T>A (p.Ser1354Thr)
c.5974T>A (p.Ser1992Thr)
c.5701T>A (p.Ser1901Thr)
c.5155T>A (p.Ser1719Thr)
c.4882T>A (p.Ser1628Thr)
c.4333T>A (p.Ser1445Thr)
c.6247T>A (p.Ser2083Thr)
c.5971T>A (p.Ser1991Thr)
9g.115035294C>ACA5207563TNCc.3786G>T (p.Gln1262His)
c.4608G>T (p.Gln1536His)
c.2640G>T (p.Gln880His)
c.1296G>T (p.Gln432His)
c.4655G>T
c.5697G>T (p.Gln1899His)
c.5151G>T (p.Gln1717His)
c.4878G>T (p.Gln1626His)
n.279G>T
c.1384G>T
c.5424G>T (p.Gln1808His)
c.4605G>T (p.Gln1535His)
c.4059G>T (p.Gln1353His)
c.5973G>T (p.Gln1991His)
c.5700G>T (p.Gln1900His)
c.5154G>T (p.Gln1718His)
c.4881G>T (p.Gln1627His)
c.4332G>T (p.Gln1444His)
c.6246G>T (p.Gln2082His)
c.5970G>T (p.Gln1990His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035294C=CA1874113764TNCc.3786G= (p.Gln1262=)
c.4608G= (p.Gln1536=)
c.2640G= (p.Gln880=)
c.1296G= (p.Gln432=)
c.4655G=
c.5697G= (p.Gln1899=)
c.5151G= (p.Gln1717=)
c.4878G= (p.Gln1626=)
n.279G=
c.1384G=
c.5424G= (p.Gln1808=)
c.4605G= (p.Gln1535=)
c.4059G= (p.Gln1353=)
c.5973G= (p.Gln1991=)
c.5700G= (p.Gln1900=)
c.5154G= (p.Gln1718=)
c.4881G= (p.Gln1627=)
c.4332G= (p.Gln1444=)
c.6246G= (p.Gln2082=)
c.5970G= (p.Gln1990=)
9g.115035294C>GCA374626564TNCc.3786G>C (p.Gln1262His)
c.4608G>C (p.Gln1536His)
c.2640G>C (p.Gln880His)
c.1296G>C (p.Gln432His)
c.4655G>C
c.5697G>C (p.Gln1899His)
c.5151G>C (p.Gln1717His)
c.4878G>C (p.Gln1626His)
n.279G>C
c.1384G>C
c.5424G>C (p.Gln1808His)
c.4605G>C (p.Gln1535His)
c.4059G>C (p.Gln1353His)
c.5973G>C (p.Gln1991His)
c.5700G>C (p.Gln1900His)
c.5154G>C (p.Gln1718His)
c.4881G>C (p.Gln1627His)
c.4332G>C (p.Gln1444His)
c.6246G>C (p.Gln2082His)
c.5970G>C (p.Gln1990His)
9g.115035294C>TCA5207564TNCc.3786G>A (p.Gln1262=)
c.4608G>A (p.Gln1536=)
c.2640G>A (p.Gln880=)
c.1296G>A (p.Gln432=)
c.4655G>A
c.5697G>A (p.Gln1899=)
c.5151G>A (p.Gln1717=)
c.4878G>A (p.Gln1626=)
n.279G>A
c.1384G>A
c.5424G>A (p.Gln1808=)
c.4605G>A (p.Gln1535=)
c.4059G>A (p.Gln1353=)
c.5973G>A (p.Gln1991=)
c.5700G>A (p.Gln1900=)
c.5154G>A (p.Gln1718=)
c.4881G>A (p.Gln1627=)
c.4332G>A (p.Gln1444=)
c.6246G>A (p.Gln2082=)
c.5970G>A (p.Gln1990=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115035295T>ACA5207565TNCc.3785A>T (p.Gln1262Leu)
c.4607A>T (p.Gln1536Leu)
c.2639A>T (p.Gln880Leu)
c.1295A>T (p.Gln432Leu)
c.4654A>T
c.5696A>T (p.Gln1899Leu)
c.5150A>T (p.Gln1717Leu)
c.4877A>T (p.Gln1626Leu)
n.278A>T
c.1383A>T
c.5423A>T (p.Gln1808Leu)
c.4604A>T (p.Gln1535Leu)
c.4058A>T (p.Gln1353Leu)
c.5972A>T (p.Gln1991Leu)
c.5699A>T (p.Gln1900Leu)
c.5153A>T (p.Gln1718Leu)
c.4880A>T (p.Gln1627Leu)
c.4331A>T (p.Gln1444Leu)
c.6245A>T (p.Gln2082Leu)
c.5969A>T (p.Gln1990Leu)
 dbSNP ExAC gnomAD v2
9g.115035295T>CCA374626566TNCc.3785A>G (p.Gln1262Arg)
c.4607A>G (p.Gln1536Arg)
c.2639A>G (p.Gln880Arg)
c.1295A>G (p.Gln432Arg)
c.4654A>G
c.5696A>G (p.Gln1899Arg)
c.5150A>G (p.Gln1717Arg)
c.4877A>G (p.Gln1626Arg)
n.278A>G
c.1383A>G
c.5423A>G (p.Gln1808Arg)
c.4604A>G (p.Gln1535Arg)
c.4058A>G (p.Gln1353Arg)
c.5972A>G (p.Gln1991Arg)
c.5699A>G (p.Gln1900Arg)
c.5153A>G (p.Gln1718Arg)
c.4880A>G (p.Gln1627Arg)
c.4331A>G (p.Gln1444Arg)
c.6245A>G (p.Gln2082Arg)
c.5969A>G (p.Gln1990Arg)
9g.115035295T>GCA374626565TNCc.3785A>C (p.Gln1262Pro)
c.4607A>C (p.Gln1536Pro)
c.2639A>C (p.Gln880Pro)
c.1295A>C (p.Gln432Pro)
c.4654A>C
c.5696A>C (p.Gln1899Pro)
c.5150A>C (p.Gln1717Pro)
c.4877A>C (p.Gln1626Pro)
n.278A>C
c.1383A>C
c.5423A>C (p.Gln1808Pro)
c.4604A>C (p.Gln1535Pro)
c.4058A>C (p.Gln1353Pro)
c.5972A>C (p.Gln1991Pro)
c.5699A>C (p.Gln1900Pro)
c.5153A>C (p.Gln1718Pro)
c.4880A>C (p.Gln1627Pro)
c.4331A>C (p.Gln1444Pro)
c.6245A>C (p.Gln2082Pro)
c.5969A>C (p.Gln1990Pro)
9g.115035295T=CA1874113765TNCc.3785A= (p.Gln1262=)
c.4607A= (p.Gln1536=)
c.2639A= (p.Gln880=)
c.1295A= (p.Gln432=)
c.4654A=
c.5696A= (p.Gln1899=)
c.5150A= (p.Gln1717=)
c.4877A= (p.Gln1626=)
n.278A=
c.1383A=
c.5423A= (p.Gln1808=)
c.4604A= (p.Gln1535=)
c.4058A= (p.Gln1353=)
c.5972A= (p.Gln1991=)
c.5699A= (p.Gln1900=)
c.5153A= (p.Gln1718=)
c.4880A= (p.Gln1627=)
c.4331A= (p.Gln1444=)
c.6245A= (p.Gln2082=)
c.5969A= (p.Gln1990=)
9g.115035296G>ACA374626567TNCc.3784C>T (p.Gln1262Ter)
c.4606C>T (p.Gln1536Ter)
c.2638C>T (p.Gln880Ter)
c.1294C>T (p.Gln432Ter)
c.4653C>T
c.5695C>T (p.Gln1899Ter)
c.5149C>T (p.Gln1717Ter)
c.4876C>T (p.Gln1626Ter)
n.277C>T
c.1382C>T
c.5422C>T (p.Gln1808Ter)
c.4603C>T (p.Gln1535Ter)
c.4057C>T (p.Gln1353Ter)
c.5971C>T (p.Gln1991Ter)
c.5698C>T (p.Gln1900Ter)
c.5152C>T (p.Gln1718Ter)
c.4879C>T (p.Gln1627Ter)
c.4330C>T (p.Gln1444Ter)
c.6244C>T (p.Gln2082Ter)
c.5968C>T (p.Gln1990Ter)
9g.115035296G>CCA374626568TNCc.3784C>G (p.Gln1262Glu)
c.4606C>G (p.Gln1536Glu)
c.2638C>G (p.Gln880Glu)
c.1294C>G (p.Gln432Glu)
c.4653C>G
c.5695C>G (p.Gln1899Glu)
c.5149C>G (p.Gln1717Glu)
c.4876C>G (p.Gln1626Glu)
n.277C>G
c.1382C>G
c.5422C>G (p.Gln1808Glu)
c.4603C>G (p.Gln1535Glu)
c.4057C>G (p.Gln1353Glu)
c.5971C>G (p.Gln1991Glu)
c.5698C>G (p.Gln1900Glu)
c.5152C>G (p.Gln1718Glu)
c.4879C>G (p.Gln1627Glu)
c.4330C>G (p.Gln1444Glu)
c.6244C>G (p.Gln2082Glu)
c.5968C>G (p.Gln1990Glu)
9g.115035296G>TCA374626569TNCc.3784C>A (p.Gln1262Lys)
c.4606C>A (p.Gln1536Lys)
c.2638C>A (p.Gln880Lys)
c.1294C>A (p.Gln432Lys)
c.4653C>A
c.5695C>A (p.Gln1899Lys)
c.5149C>A (p.Gln1717Lys)
c.4876C>A (p.Gln1626Lys)
n.277C>A
c.1382C>A
c.5422C>A (p.Gln1808Lys)
c.4603C>A (p.Gln1535Lys)
c.4057C>A (p.Gln1353Lys)
c.5971C>A (p.Gln1991Lys)
c.5698C>A (p.Gln1900Lys)
c.5152C>A (p.Gln1718Lys)
c.4879C>A (p.Gln1627Lys)
c.4330C>A (p.Gln1444Lys)
c.6244C>A (p.Gln2082Lys)
c.5968C>A (p.Gln1990Lys)
9g.115035297A>CCA466790283TNCc.3783T>G (p.Val1261=)
c.4605T>G (p.Val1535=)
c.2637T>G (p.Val879=)
c.1293T>G (p.Val431=)
c.4652T>G
c.5694T>G (p.Val1898=)
c.5148T>G (p.Val1716=)
c.4875T>G (p.Val1625=)
n.276T>G
c.1381T>G
c.5421T>G (p.Val1807=)
c.4602T>G (p.Val1534=)
c.4056T>G (p.Val1352=)
c.5970T>G (p.Val1990=)
c.5697T>G (p.Val1899=)
c.5151T>G (p.Val1717=)
c.4878T>G (p.Val1626=)
c.4329T>G (p.Val1443=)
c.6243T>G (p.Val2081=)
c.5967T>G (p.Val1989=)
9g.115035297A>GCA466790284TNCc.3783T>C (p.Val1261=)
c.4605T>C (p.Val1535=)
c.2637T>C (p.Val879=)
c.1293T>C (p.Val431=)
c.4652T>C
c.5694T>C (p.Val1898=)
c.5148T>C (p.Val1716=)
c.4875T>C (p.Val1625=)
n.276T>C
c.1381T>C
c.5421T>C (p.Val1807=)
c.4602T>C (p.Val1534=)
c.4056T>C (p.Val1352=)
c.5970T>C (p.Val1990=)
c.5697T>C (p.Val1899=)
c.5151T>C (p.Val1717=)
c.4878T>C (p.Val1626=)
c.4329T>C (p.Val1443=)
c.6243T>C (p.Val2081=)
c.5967T>C (p.Val1989=)
9g.115035297A>TCA466790285TNCc.3783T>A (p.Val1261=)
c.4605T>A (p.Val1535=)
c.2637T>A (p.Val879=)
c.1293T>A (p.Val431=)
c.4652T>A
c.5694T>A (p.Val1898=)
c.5148T>A (p.Val1716=)
c.4875T>A (p.Val1625=)
n.276T>A
c.1381T>A
c.5421T>A (p.Val1807=)
c.4602T>A (p.Val1534=)
c.4056T>A (p.Val1352=)
c.5970T>A (p.Val1990=)
c.5697T>A (p.Val1899=)
c.5151T>A (p.Val1717=)
c.4878T>A (p.Val1626=)
c.4329T>A (p.Val1443=)
c.6243T>A (p.Val2081=)
c.5967T>A (p.Val1989=)
9g.115035298A=CA1874113766TNCc.3782T= (p.Val1261=)
c.4604T= (p.Val1535=)
c.2636T= (p.Val879=)
c.1292T= (p.Val431=)
c.4651T=
c.5693T= (p.Val1898=)
c.5147T= (p.Val1716=)
c.4874T= (p.Val1625=)
n.275T=
c.1380T=
c.5420T= (p.Val1807=)
c.4601T= (p.Val1534=)
c.4055T= (p.Val1352=)
c.5969T= (p.Val1990=)
c.5696T= (p.Val1899=)
c.5150T= (p.Val1717=)
c.4877T= (p.Val1626=)
c.4328T= (p.Val1443=)
c.6242T= (p.Val2081=)
c.5966T= (p.Val1989=)
9g.115035298A>CCA374626570TNCc.3782T>G (p.Val1261Gly)
c.4604T>G (p.Val1535Gly)
c.2636T>G (p.Val879Gly)
c.1292T>G (p.Val431Gly)
c.4651T>G
c.5693T>G (p.Val1898Gly)
c.5147T>G (p.Val1716Gly)
c.4874T>G (p.Val1625Gly)
n.275T>G
c.1380T>G
c.5420T>G (p.Val1807Gly)
c.4601T>G (p.Val1534Gly)
c.4055T>G (p.Val1352Gly)
c.5969T>G (p.Val1990Gly)
c.5696T>G (p.Val1899Gly)
c.5150T>G (p.Val1717Gly)
c.4877T>G (p.Val1626Gly)
c.4328T>G (p.Val1443Gly)
c.6242T>G (p.Val2081Gly)
c.5966T>G (p.Val1989Gly)
9g.115035298A>GCA374626571TNCc.3782T>C (p.Val1261Ala)
c.4604T>C (p.Val1535Ala)
c.2636T>C (p.Val879Ala)
c.1292T>C (p.Val431Ala)
c.4651T>C
c.5693T>C (p.Val1898Ala)
c.5147T>C (p.Val1716Ala)
c.4874T>C (p.Val1625Ala)
n.275T>C
c.1380T>C
c.5420T>C (p.Val1807Ala)
c.4601T>C (p.Val1534Ala)
c.4055T>C (p.Val1352Ala)
c.5969T>C (p.Val1990Ala)
c.5696T>C (p.Val1899Ala)
c.5150T>C (p.Val1717Ala)
c.4877T>C (p.Val1626Ala)
c.4328T>C (p.Val1443Ala)
c.6242T>C (p.Val2081Ala)
c.5966T>C (p.Val1989Ala)
9g.115035298A>TCA374626572TNCc.3782T>A (p.Val1261Asp)
c.4604T>A (p.Val1535Asp)
c.2636T>A (p.Val879Asp)
c.1292T>A (p.Val431Asp)
c.4651T>A
c.5693T>A (p.Val1898Asp)
c.5147T>A (p.Val1716Asp)
c.4874T>A (p.Val1625Asp)
n.275T>A
c.1380T>A
c.5420T>A (p.Val1807Asp)
c.4601T>A (p.Val1534Asp)
c.4055T>A (p.Val1352Asp)
c.5969T>A (p.Val1990Asp)
c.5696T>A (p.Val1899Asp)
c.5150T>A (p.Val1717Asp)
c.4877T>A (p.Val1626Asp)
c.4328T>A (p.Val1443Asp)
c.6242T>A (p.Val2081Asp)
c.5966T>A (p.Val1989Asp)
 dbSNP gnomAD v4
9g.115035299C>ACA374626573TNCc.3781G>T (p.Val1261Phe)
c.4603G>T (p.Val1535Phe)
c.2635G>T (p.Val879Phe)
c.1291G>T (p.Val431Phe)
c.4650G>T
c.5692G>T (p.Val1898Phe)
c.5146G>T (p.Val1716Phe)
c.4873G>T (p.Val1625Phe)
n.274G>T
c.1379G>T
c.5419G>T (p.Val1807Phe)
c.4600G>T (p.Val1534Phe)
c.4054G>T (p.Val1352Phe)
c.5968G>T (p.Val1990Phe)
c.5695G>T (p.Val1899Phe)
c.5149G>T (p.Val1717Phe)
c.4876G>T (p.Val1626Phe)
c.4327G>T (p.Val1443Phe)
c.6241G>T (p.Val2081Phe)
c.5965G>T (p.Val1989Phe)
9g.115035299C>GCA374626575TNCc.3781G>C (p.Val1261Leu)
c.4603G>C (p.Val1535Leu)
c.2635G>C (p.Val879Leu)
c.1291G>C (p.Val431Leu)
c.4650G>C
c.5692G>C (p.Val1898Leu)
c.5146G>C (p.Val1716Leu)
c.4873G>C (p.Val1625Leu)
n.274G>C
c.1379G>C
c.5419G>C (p.Val1807Leu)
c.4600G>C (p.Val1534Leu)
c.4054G>C (p.Val1352Leu)
c.5968G>C (p.Val1990Leu)
c.5695G>C (p.Val1899Leu)
c.5149G>C (p.Val1717Leu)
c.4876G>C (p.Val1626Leu)
c.4327G>C (p.Val1443Leu)
c.6241G>C (p.Val2081Leu)
c.5965G>C (p.Val1989Leu)
9g.115035299C>TCA374626574TNCc.3781G>A (p.Val1261Ile)
c.4603G>A (p.Val1535Ile)
c.2635G>A (p.Val879Ile)
c.1291G>A (p.Val431Ile)
c.4650G>A
c.5692G>A (p.Val1898Ile)
c.5146G>A (p.Val1716Ile)
c.4873G>A (p.Val1625Ile)
n.274G>A
c.1379G>A
c.5419G>A (p.Val1807Ile)
c.4600G>A (p.Val1534Ile)
c.4054G>A (p.Val1352Ile)
c.5968G>A (p.Val1990Ile)
c.5695G>A (p.Val1899Ile)
c.5149G>A (p.Val1717Ile)
c.4876G>A (p.Val1626Ile)
c.4327G>A (p.Val1443Ile)
c.6241G>A (p.Val2081Ile)
c.5965G>A (p.Val1989Ile)
 ClinVar gnomAD v4 COSMIC
9g.115035300C>ACA374626576TNCc.3780G>T (p.Glu1260Asp)
c.4602G>T (p.Glu1534Asp)
c.2634G>T (p.Glu878Asp)
c.1290G>T (p.Glu430Asp)
c.4649G>T
c.5691G>T (p.Glu1897Asp)
c.5145G>T (p.Glu1715Asp)
c.4872G>T (p.Glu1624Asp)
n.273G>T
c.1378G>T
c.5418G>T (p.Glu1806Asp)
c.4599G>T (p.Glu1533Asp)
c.4053G>T (p.Glu1351Asp)
c.5967G>T (p.Glu1989Asp)
c.5694G>T (p.Glu1898Asp)
c.5148G>T (p.Glu1716Asp)
c.4875G>T (p.Glu1625Asp)
c.4326G>T (p.Glu1442Asp)
c.6240G>T (p.Glu2080Asp)
c.5964G>T (p.Glu1988Asp)
9g.115035300C=CA1874113767TNCc.3780G= (p.Glu1260=)
c.4602G= (p.Glu1534=)
c.2634G= (p.Glu878=)
c.1290G= (p.Glu430=)
c.4649G=
c.5691G= (p.Glu1897=)
c.5145G= (p.Glu1715=)
c.4872G= (p.Glu1624=)
n.273G=
c.1378G=
c.5418G= (p.Glu1806=)
c.4599G= (p.Glu1533=)
c.4053G= (p.Glu1351=)
c.5967G= (p.Glu1989=)
c.5694G= (p.Glu1898=)
c.5148G= (p.Glu1716=)
c.4875G= (p.Glu1625=)
c.4326G= (p.Glu1442=)
c.6240G= (p.Glu2080=)
c.5964G= (p.Glu1988=)
9g.115035300C>GCA374626577TNCc.3780G>C (p.Glu1260Asp)
c.4602G>C (p.Glu1534Asp)
c.2634G>C (p.Glu878Asp)
c.1290G>C (p.Glu430Asp)
c.4649G>C
c.5691G>C (p.Glu1897Asp)
c.5145G>C (p.Glu1715Asp)
c.4872G>C (p.Glu1624Asp)
n.273G>C
c.1378G>C
c.5418G>C (p.Glu1806Asp)
c.4599G>C (p.Glu1533Asp)
c.4053G>C (p.Glu1351Asp)
c.5967G>C (p.Glu1989Asp)
c.5694G>C (p.Glu1898Asp)
c.5148G>C (p.Glu1716Asp)
c.4875G>C (p.Glu1625Asp)
c.4326G>C (p.Glu1442Asp)
c.6240G>C (p.Glu2080Asp)
c.5964G>C (p.Glu1988Asp)
 COSMIC
9g.115035300C>TCA466790299TNCc.3780G>A (p.Glu1260=)
c.4602G>A (p.Glu1534=)
c.2634G>A (p.Glu878=)
c.1290G>A (p.Glu430=)
c.4649G>A
c.5691G>A (p.Glu1897=)
c.5145G>A (p.Glu1715=)
c.4872G>A (p.Glu1624=)
n.273G>A
c.1378G>A
c.5418G>A (p.Glu1806=)
c.4599G>A (p.Glu1533=)
c.4053G>A (p.Glu1351=)
c.5967G>A (p.Glu1989=)
c.5694G>A (p.Glu1898=)
c.5148G>A (p.Glu1716=)
c.4875G>A (p.Glu1625=)
c.4326G>A (p.Glu1442=)
c.6240G>A (p.Glu2080=)
c.5964G>A (p.Glu1988=)
 dbSNP
9g.115035301T>ACA374626578TNCc.3779A>T (p.Glu1260Val)
c.4601A>T (p.Glu1534Val)
c.2633A>T (p.Glu878Val)
c.1289A>T (p.Glu430Val)
c.4648A>T
c.5690A>T (p.Glu1897Val)
c.5144A>T (p.Glu1715Val)
c.4871A>T (p.Glu1624Val)
n.272A>T
c.1377A>T
c.5417A>T (p.Glu1806Val)
c.4598A>T (p.Glu1533Val)
c.4052A>T (p.Glu1351Val)
c.5966A>T (p.Glu1989Val)
c.5693A>T (p.Glu1898Val)
c.5147A>T (p.Glu1716Val)
c.4874A>T (p.Glu1625Val)
c.4325A>T (p.Glu1442Val)
c.6239A>T (p.Glu2080Val)
c.5963A>T (p.Glu1988Val)
9g.115035301T>CCA374626579TNCc.3779A>G (p.Glu1260Gly)
c.4601A>G (p.Glu1534Gly)
c.2633A>G (p.Glu878Gly)
c.1289A>G (p.Glu430Gly)
c.4648A>G
c.5690A>G (p.Glu1897Gly)
c.5144A>G (p.Glu1715Gly)
c.4871A>G (p.Glu1624Gly)
n.272A>G
c.1377A>G
c.5417A>G (p.Glu1806Gly)
c.4598A>G (p.Glu1533Gly)
c.4052A>G (p.Glu1351Gly)
c.5966A>G (p.Glu1989Gly)
c.5693A>G (p.Glu1898Gly)
c.5147A>G (p.Glu1716Gly)
c.4874A>G (p.Glu1625Gly)
c.4325A>G (p.Glu1442Gly)
c.6239A>G (p.Glu2080Gly)
c.5963A>G (p.Glu1988Gly)
9g.115035301T>GCA374626580TNCc.3779A>C (p.Glu1260Ala)
c.4601A>C (p.Glu1534Ala)
c.2633A>C (p.Glu878Ala)
c.1289A>C (p.Glu430Ala)
c.4648A>C
c.5690A>C (p.Glu1897Ala)
c.5144A>C (p.Glu1715Ala)
c.4871A>C (p.Glu1624Ala)
n.272A>C
c.1377A>C
c.5417A>C (p.Glu1806Ala)
c.4598A>C (p.Glu1533Ala)
c.4052A>C (p.Glu1351Ala)
c.5966A>C (p.Glu1989Ala)
c.5693A>C (p.Glu1898Ala)
c.5147A>C (p.Glu1716Ala)
c.4874A>C (p.Glu1625Ala)
c.4325A>C (p.Glu1442Ala)
c.6239A>C (p.Glu2080Ala)
c.5963A>C (p.Glu1988Ala)
9g.115035302C>ACA374626581TNCc.3778G>T (p.Glu1260Ter)
c.4600G>T (p.Glu1534Ter)
c.2632G>T (p.Glu878Ter)
c.1288G>T (p.Glu430Ter)
c.4647G>T
c.5689G>T (p.Glu1897Ter)
c.5143G>T (p.Glu1715Ter)
c.4870G>T (p.Glu1624Ter)
n.271G>T
c.1376G>T
c.5416G>T (p.Glu1806Ter)
c.4597G>T (p.Glu1533Ter)
c.4051G>T (p.Glu1351Ter)
c.5965G>T (p.Glu1989Ter)
c.5692G>T (p.Glu1898Ter)
c.5146G>T (p.Glu1716Ter)
c.4873G>T (p.Glu1625Ter)
c.4324G>T (p.Glu1442Ter)
c.6238G>T (p.Glu2080Ter)
c.5962G>T (p.Glu1988Ter)
9g.115035302C>GCA374626582TNCc.3778G>C (p.Glu1260Gln)
c.4600G>C (p.Glu1534Gln)
c.2632G>C (p.Glu878Gln)
c.1288G>C (p.Glu430Gln)
c.4647G>C
c.5689G>C (p.Glu1897Gln)
c.5143G>C (p.Glu1715Gln)
c.4870G>C (p.Glu1624Gln)
n.271G>C
c.1376G>C
c.5416G>C (p.Glu1806Gln)
c.4597G>C (p.Glu1533Gln)
c.4051G>C (p.Glu1351Gln)
c.5965G>C (p.Glu1989Gln)
c.5692G>C (p.Glu1898Gln)
c.5146G>C (p.Glu1716Gln)
c.4873G>C (p.Glu1625Gln)
c.4324G>C (p.Glu1442Gln)
c.6238G>C (p.Glu2080Gln)
c.5962G>C (p.Glu1988Gln)
9g.115035302C>TCA374626583TNCc.3778G>A (p.Glu1260Lys)
c.4600G>A (p.Glu1534Lys)
c.2632G>A (p.Glu878Lys)
c.1288G>A (p.Glu430Lys)
c.4647G>A
c.5689G>A (p.Glu1897Lys)
c.5143G>A (p.Glu1715Lys)
c.4870G>A (p.Glu1624Lys)
n.271G>A
c.1376G>A
c.5416G>A (p.Glu1806Lys)
c.4597G>A (p.Glu1533Lys)
c.4051G>A (p.Glu1351Lys)
c.5965G>A (p.Glu1989Lys)
c.5692G>A (p.Glu1898Lys)
c.5146G>A (p.Glu1716Lys)
c.4873G>A (p.Glu1625Lys)
c.4324G>A (p.Glu1442Lys)
c.6238G>A (p.Glu2080Lys)
c.5962G>A (p.Glu1988Lys)
 COSMIC
9g.115035303A=CA1874113768TNCc.3777T= (p.Thr1259=)
c.4599T= (p.Thr1533=)
c.2631T= (p.Thr877=)
c.1287T= (p.Thr429=)
c.4646T=
c.5688T= (p.Thr1896=)
c.5142T= (p.Thr1714=)
c.4869T= (p.Thr1623=)
n.270T=
c.1375T=
c.5415T= (p.Thr1805=)
c.4596T= (p.Thr1532=)
c.4050T= (p.Thr1350=)
c.5964T= (p.Thr1988=)
c.5691T= (p.Thr1897=)
c.5145T= (p.Thr1715=)
c.4872T= (p.Thr1624=)
c.4323T= (p.Thr1441=)
c.6237T= (p.Thr2079=)
c.5961T= (p.Thr1987=)
9g.115035303A>CCA466790314TNCc.3777T>G (p.Thr1259=)
c.4599T>G (p.Thr1533=)
c.2631T>G (p.Thr877=)
c.1287T>G (p.Thr429=)
c.4646T>G
c.5688T>G (p.Thr1896=)
c.5142T>G (p.Thr1714=)
c.4869T>G (p.Thr1623=)
n.270T>G
c.1375T>G
c.5415T>G (p.Thr1805=)
c.4596T>G (p.Thr1532=)
c.4050T>G (p.Thr1350=)
c.5964T>G (p.Thr1988=)
c.5691T>G (p.Thr1897=)
c.5145T>G (p.Thr1715=)
c.4872T>G (p.Thr1624=)
c.4323T>G (p.Thr1441=)
c.6237T>G (p.Thr2079=)
c.5961T>G (p.Thr1987=)
 dbSNP gnomAD v3 gnomAD v4
9g.115035303A>GCA466790316TNCc.3777T>C (p.Thr1259=)
c.4599T>C (p.Thr1533=)
c.2631T>C (p.Thr877=)
c.1287T>C (p.Thr429=)
c.4646T>C
c.5688T>C (p.Thr1896=)
c.5142T>C (p.Thr1714=)
c.4869T>C (p.Thr1623=)
n.270T>C
c.1375T>C
c.5415T>C (p.Thr1805=)
c.4596T>C (p.Thr1532=)
c.4050T>C (p.Thr1350=)
c.5964T>C (p.Thr1988=)
c.5691T>C (p.Thr1897=)
c.5145T>C (p.Thr1715=)
c.4872T>C (p.Thr1624=)
c.4323T>C (p.Thr1441=)
c.6237T>C (p.Thr2079=)
c.5961T>C (p.Thr1987=)
 dbSNP
9g.115035303A>TCA466790318TNCc.3777T>A (p.Thr1259=)
c.4599T>A (p.Thr1533=)
c.2631T>A (p.Thr877=)
c.1287T>A (p.Thr429=)
c.4646T>A
c.5688T>A (p.Thr1896=)
c.5142T>A (p.Thr1714=)
c.4869T>A (p.Thr1623=)
n.270T>A
c.1375T>A
c.5415T>A (p.Thr1805=)
c.4596T>A (p.Thr1532=)
c.4050T>A (p.Thr1350=)
c.5964T>A (p.Thr1988=)
c.5691T>A (p.Thr1897=)
c.5145T>A (p.Thr1715=)
c.4872T>A (p.Thr1624=)
c.4323T>A (p.Thr1441=)
c.6237T>A (p.Thr2079=)
c.5961T>A (p.Thr1987=)
9g.115035304G>ACA374626584TNCc.3776C>T (p.Thr1259Ile)
c.4598C>T (p.Thr1533Ile)
c.2630C>T (p.Thr877Ile)
c.1286C>T (p.Thr429Ile)
c.4645C>T
c.5687C>T (p.Thr1896Ile)
c.5141C>T (p.Thr1714Ile)
c.4868C>T (p.Thr1623Ile)
n.269C>T
c.1374C>T
c.5414C>T (p.Thr1805Ile)
c.4595C>T (p.Thr1532Ile)
c.4049C>T (p.Thr1350Ile)
c.5963C>T (p.Thr1988Ile)
c.5690C>T (p.Thr1897Ile)
c.5144C>T (p.Thr1715Ile)
c.4871C>T (p.Thr1624Ile)
c.4322C>T (p.Thr1441Ile)
c.6236C>T (p.Thr2079Ile)
c.5960C>T (p.Thr1987Ile)
9g.115035304G>CCA374626585TNCc.3776C>G (p.Thr1259Ser)
c.4598C>G (p.Thr1533Ser)
c.2630C>G (p.Thr877Ser)
c.1286C>G (p.Thr429Ser)
c.4645C>G
c.5687C>G (p.Thr1896Ser)
c.5141C>G (p.Thr1714Ser)
c.4868C>G (p.Thr1623Ser)
n.269C>G
c.1374C>G
c.5414C>G (p.Thr1805Ser)
c.4595C>G (p.Thr1532Ser)
c.4049C>G (p.Thr1350Ser)
c.5963C>G (p.Thr1988Ser)
c.5690C>G (p.Thr1897Ser)
c.5144C>G (p.Thr1715Ser)
c.4871C>G (p.Thr1624Ser)
c.4322C>G (p.Thr1441Ser)
c.6236C>G (p.Thr2079Ser)
c.5960C>G (p.Thr1987Ser)
9g.115035304G>TCA374626586TNCc.3776C>A (p.Thr1259Asn)
c.4598C>A (p.Thr1533Asn)
c.2630C>A (p.Thr877Asn)
c.1286C>A (p.Thr429Asn)
c.4645C>A
c.5687C>A (p.Thr1896Asn)
c.5141C>A (p.Thr1714Asn)
c.4868C>A (p.Thr1623Asn)
n.269C>A
c.1374C>A
c.5414C>A (p.Thr1805Asn)
c.4595C>A (p.Thr1532Asn)
c.4049C>A (p.Thr1350Asn)
c.5963C>A (p.Thr1988Asn)
c.5690C>A (p.Thr1897Asn)
c.5144C>A (p.Thr1715Asn)
c.4871C>A (p.Thr1624Asn)
c.4322C>A (p.Thr1441Asn)
c.6236C>A (p.Thr2079Asn)
c.5960C>A (p.Thr1987Asn)
 gnomAD v4
9g.115035305T>ACA374626588TNCc.3775A>T (p.Thr1259Ser)
c.4597A>T (p.Thr1533Ser)
c.2629A>T (p.Thr877Ser)
c.1285A>T (p.Thr429Ser)
c.4644A>T
c.5686A>T (p.Thr1896Ser)
c.5140A>T (p.Thr1714Ser)
c.4867A>T (p.Thr1623Ser)
n.268A>T
c.1373A>T
c.5413A>T (p.Thr1805Ser)
c.4594A>T (p.Thr1532Ser)
c.4048A>T (p.Thr1350Ser)
c.5962A>T (p.Thr1988Ser)
c.5689A>T (p.Thr1897Ser)
c.5143A>T (p.Thr1715Ser)
c.4870A>T (p.Thr1624Ser)
c.4321A>T (p.Thr1441Ser)
c.6235A>T (p.Thr2079Ser)
c.5959A>T (p.Thr1987Ser)
9g.115035305T>CCA374626589TNCc.3775A>G (p.Thr1259Ala)
c.4597A>G (p.Thr1533Ala)
c.2629A>G (p.Thr877Ala)
c.1285A>G (p.Thr429Ala)
c.4644A>G
c.5686A>G (p.Thr1896Ala)
c.5140A>G (p.Thr1714Ala)
c.4867A>G (p.Thr1623Ala)
n.268A>G
c.1373A>G
c.5413A>G (p.Thr1805Ala)
c.4594A>G (p.Thr1532Ala)
c.4048A>G (p.Thr1350Ala)
c.5962A>G (p.Thr1988Ala)
c.5689A>G (p.Thr1897Ala)
c.5143A>G (p.Thr1715Ala)
c.4870A>G (p.Thr1624Ala)
c.4321A>G (p.Thr1441Ala)
c.6235A>G (p.Thr2079Ala)
c.5959A>G (p.Thr1987Ala)
9g.115035305T>GCA374626587TNCc.3775A>C (p.Thr1259Pro)
c.4597A>C (p.Thr1533Pro)
c.2629A>C (p.Thr877Pro)
c.1285A>C (p.Thr429Pro)
c.4644A>C
c.5686A>C (p.Thr1896Pro)
c.5140A>C (p.Thr1714Pro)
c.4867A>C (p.Thr1623Pro)
n.268A>C
c.1373A>C
c.5413A>C (p.Thr1805Pro)
c.4594A>C (p.Thr1532Pro)
c.4048A>C (p.Thr1350Pro)
c.5962A>C (p.Thr1988Pro)
c.5689A>C (p.Thr1897Pro)
c.5143A>C (p.Thr1715Pro)
c.4870A>C (p.Thr1624Pro)
c.4321A>C (p.Thr1441Pro)
c.6235A>C (p.Thr2079Pro)
c.5959A>C (p.Thr1987Pro)
9g.115035306A=CA1874113769TNCc.3774T= (p.Ala1258=)
c.4596T= (p.Ala1532=)
c.2628T= (p.Ala876=)
c.1284T= (p.Ala428=)
c.4643T=
c.5685T= (p.Ala1895=)
c.5139T= (p.Ala1713=)
c.4866T= (p.Ala1622=)
n.267T=
c.1372T=
c.5412T= (p.Ala1804=)
c.4593T= (p.Ala1531=)
c.4047T= (p.Ala1349=)
c.5961T= (p.Ala1987=)
c.5688T= (p.Ala1896=)
c.5142T= (p.Ala1714=)
c.4869T= (p.Ala1623=)
c.4320T= (p.Ala1440=)
c.6234T= (p.Ala2078=)
c.5958T= (p.Ala1986=)
9g.115035306A>CCA466790331TNCc.3774T>G (p.Ala1258=)
c.4596T>G (p.Ala1532=)
c.2628T>G (p.Ala876=)
c.1284T>G (p.Ala428=)
c.4643T>G
c.5685T>G (p.Ala1895=)
c.5139T>G (p.Ala1713=)
c.4866T>G (p.Ala1622=)
n.267T>G
c.1372T>G
c.5412T>G (p.Ala1804=)
c.4593T>G (p.Ala1531=)
c.4047T>G (p.Ala1349=)
c.5961T>G (p.Ala1987=)
c.5688T>G (p.Ala1896=)
c.5142T>G (p.Ala1714=)
c.4869T>G (p.Ala1623=)
c.4320T>G (p.Ala1440=)
c.6234T>G (p.Ala2078=)
c.5958T>G (p.Ala1986=)
9g.115035306A>GCA5207566TNCc.3774T>C (p.Ala1258=)
c.4596T>C (p.Ala1532=)
c.2628T>C (p.Ala876=)
c.1284T>C (p.Ala428=)
c.4643T>C
c.5685T>C (p.Ala1895=)
c.5139T>C (p.Ala1713=)
c.4866T>C (p.Ala1622=)
n.267T>C
c.1372T>C
c.5412T>C (p.Ala1804=)
c.4593T>C (p.Ala1531=)
c.4047T>C (p.Ala1349=)
c.5961T>C (p.Ala1987=)
c.5688T>C (p.Ala1896=)
c.5142T>C (p.Ala1714=)
c.4869T>C (p.Ala1623=)
c.4320T>C (p.Ala1440=)
c.6234T>C (p.Ala2078=)
c.5958T>C (p.Ala1986=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035306A>TCA466790335TNCc.3774T>A (p.Ala1258=)
c.4596T>A (p.Ala1532=)
c.2628T>A (p.Ala876=)
c.1284T>A (p.Ala428=)
c.4643T>A
c.5685T>A (p.Ala1895=)
c.5139T>A (p.Ala1713=)
c.4866T>A (p.Ala1622=)
n.267T>A
c.1372T>A
c.5412T>A (p.Ala1804=)
c.4593T>A (p.Ala1531=)
c.4047T>A (p.Ala1349=)
c.5961T>A (p.Ala1987=)
c.5688T>A (p.Ala1896=)
c.5142T>A (p.Ala1714=)
c.4869T>A (p.Ala1623=)
c.4320T>A (p.Ala1440=)
c.6234T>A (p.Ala2078=)
c.5958T>A (p.Ala1986=)
9g.115035307G>ACA374626592TNCc.3773C>T (p.Ala1258Val)
c.4595C>T (p.Ala1532Val)
c.2627C>T (p.Ala876Val)
c.1283C>T (p.Ala428Val)
c.4642C>T
c.5684C>T (p.Ala1895Val)
c.5138C>T (p.Ala1713Val)
c.4865C>T (p.Ala1622Val)
n.266C>T
c.1371C>T
c.5411C>T (p.Ala1804Val)
c.4592C>T (p.Ala1531Val)
c.4046C>T (p.Ala1349Val)
c.5960C>T (p.Ala1987Val)
c.5687C>T (p.Ala1896Val)
c.5141C>T (p.Ala1714Val)
c.4868C>T (p.Ala1623Val)
c.4319C>T (p.Ala1440Val)
c.6233C>T (p.Ala2078Val)
c.5957C>T (p.Ala1986Val)
9g.115035307G>CCA374626590TNCc.3773C>G (p.Ala1258Gly)
c.4595C>G (p.Ala1532Gly)
c.2627C>G (p.Ala876Gly)
c.1283C>G (p.Ala428Gly)
c.4642C>G
c.5684C>G (p.Ala1895Gly)
c.5138C>G (p.Ala1713Gly)
c.4865C>G (p.Ala1622Gly)
n.266C>G
c.1371C>G
c.5411C>G (p.Ala1804Gly)
c.4592C>G (p.Ala1531Gly)
c.4046C>G (p.Ala1349Gly)
c.5960C>G (p.Ala1987Gly)
c.5687C>G (p.Ala1896Gly)
c.5141C>G (p.Ala1714Gly)
c.4868C>G (p.Ala1623Gly)
c.4319C>G (p.Ala1440Gly)
c.6233C>G (p.Ala2078Gly)
c.5957C>G (p.Ala1986Gly)
9g.115035307G>TCA374626591TNCc.3773C>A (p.Ala1258Asp)
c.4595C>A (p.Ala1532Asp)
c.2627C>A (p.Ala876Asp)
c.1283C>A (p.Ala428Asp)
c.4642C>A
c.5684C>A (p.Ala1895Asp)
c.5138C>A (p.Ala1713Asp)
c.4865C>A (p.Ala1622Asp)
n.266C>A
c.1371C>A
c.5411C>A (p.Ala1804Asp)
c.4592C>A (p.Ala1531Asp)
c.4046C>A (p.Ala1349Asp)
c.5960C>A (p.Ala1987Asp)
c.5687C>A (p.Ala1896Asp)
c.5141C>A (p.Ala1714Asp)
c.4868C>A (p.Ala1623Asp)
c.4319C>A (p.Ala1440Asp)
c.6233C>A (p.Ala2078Asp)
c.5957C>A (p.Ala1986Asp)
 gnomAD v4
9g.115035308C>ACA374626593TNCc.3772G>T (p.Ala1258Ser)
c.4594G>T (p.Ala1532Ser)
c.2626G>T (p.Ala876Ser)
c.1282G>T (p.Ala428Ser)
c.4641G>T
c.5683G>T (p.Ala1895Ser)
c.5137G>T (p.Ala1713Ser)
c.4864G>T (p.Ala1622Ser)
n.265G>T
c.1370G>T
c.5410G>T (p.Ala1804Ser)
c.4591G>T (p.Ala1531Ser)
c.4045G>T (p.Ala1349Ser)
c.5959G>T (p.Ala1987Ser)
c.5686G>T (p.Ala1896Ser)
c.5140G>T (p.Ala1714Ser)
c.4867G>T (p.Ala1623Ser)
c.4318G>T (p.Ala1440Ser)
c.6232G>T (p.Ala2078Ser)
c.5956G>T (p.Ala1986Ser)
9g.115035308C>GCA374626594TNCc.3772G>C (p.Ala1258Pro)
c.4594G>C (p.Ala1532Pro)
c.2626G>C (p.Ala876Pro)
c.1282G>C (p.Ala428Pro)
c.4641G>C
c.5683G>C (p.Ala1895Pro)
c.5137G>C (p.Ala1713Pro)
c.4864G>C (p.Ala1622Pro)
n.265G>C
c.1370G>C
c.5410G>C (p.Ala1804Pro)
c.4591G>C (p.Ala1531Pro)
c.4045G>C (p.Ala1349Pro)
c.5959G>C (p.Ala1987Pro)
c.5686G>C (p.Ala1896Pro)
c.5140G>C (p.Ala1714Pro)
c.4867G>C (p.Ala1623Pro)
c.4318G>C (p.Ala1440Pro)
c.6232G>C (p.Ala2078Pro)
c.5956G>C (p.Ala1986Pro)
9g.115035308C>TCA374626595TNCc.3772G>A (p.Ala1258Thr)
c.4594G>A (p.Ala1532Thr)
c.2626G>A (p.Ala876Thr)
c.1282G>A (p.Ala428Thr)
c.4641G>A
c.5683G>A (p.Ala1895Thr)
c.5137G>A (p.Ala1713Thr)
c.4864G>A (p.Ala1622Thr)
n.265G>A
c.1370G>A
c.5410G>A (p.Ala1804Thr)
c.4591G>A (p.Ala1531Thr)
c.4045G>A (p.Ala1349Thr)
c.5959G>A (p.Ala1987Thr)
c.5686G>A (p.Ala1896Thr)
c.5140G>A (p.Ala1714Thr)
c.4867G>A (p.Ala1623Thr)
c.4318G>A (p.Ala1440Thr)
c.6232G>A (p.Ala2078Thr)
c.5956G>A (p.Ala1986Thr)
9g.115035309A>CCA466790353TNCc.3771T>G (p.Thr1257=)
c.4593T>G (p.Thr1531=)
c.2625T>G (p.Thr875=)
c.1281T>G (p.Thr427=)
c.4640T>G
c.5682T>G (p.Thr1894=)
c.5136T>G (p.Thr1712=)
c.4863T>G (p.Thr1621=)
n.264T>G
c.1369T>G
c.5409T>G (p.Thr1803=)
c.4590T>G (p.Thr1530=)
c.4044T>G (p.Thr1348=)
c.5958T>G (p.Thr1986=)
c.5685T>G (p.Thr1895=)
c.5139T>G (p.Thr1713=)
c.4866T>G (p.Thr1622=)
c.4317T>G (p.Thr1439=)
c.6231T>G (p.Thr2077=)
c.5955T>G (p.Thr1985=)
9g.115035309A>GCA466790355TNCc.3771T>C (p.Thr1257=)
c.4593T>C (p.Thr1531=)
c.2625T>C (p.Thr875=)
c.1281T>C (p.Thr427=)
c.4640T>C
c.5682T>C (p.Thr1894=)
c.5136T>C (p.Thr1712=)
c.4863T>C (p.Thr1621=)
n.264T>C
c.1369T>C
c.5409T>C (p.Thr1803=)
c.4590T>C (p.Thr1530=)
c.4044T>C (p.Thr1348=)
c.5958T>C (p.Thr1986=)
c.5685T>C (p.Thr1895=)
c.5139T>C (p.Thr1713=)
c.4866T>C (p.Thr1622=)
c.4317T>C (p.Thr1439=)
c.6231T>C (p.Thr2077=)
c.5955T>C (p.Thr1985=)
 dbSNP
9g.115035309A>TCA466790358TNCc.3771T>A (p.Thr1257=)
c.4593T>A (p.Thr1531=)
c.2625T>A (p.Thr875=)
c.1281T>A (p.Thr427=)
c.4640T>A
c.5682T>A (p.Thr1894=)
c.5136T>A (p.Thr1712=)
c.4863T>A (p.Thr1621=)
n.264T>A
c.1369T>A
c.5409T>A (p.Thr1803=)
c.4590T>A (p.Thr1530=)
c.4044T>A (p.Thr1348=)
c.5958T>A (p.Thr1986=)
c.5685T>A (p.Thr1895=)
c.5139T>A (p.Thr1713=)
c.4866T>A (p.Thr1622=)
c.4317T>A (p.Thr1439=)
c.6231T>A (p.Thr2077=)
c.5955T>A (p.Thr1985=)
9g.115035310G>ACA374626596TNCc.3770C>T (p.Thr1257Ile)
c.4592C>T (p.Thr1531Ile)
c.2624C>T (p.Thr875Ile)
c.1280C>T (p.Thr427Ile)
c.4639C>T
c.5681C>T (p.Thr1894Ile)
c.5135C>T (p.Thr1712Ile)
c.4862C>T (p.Thr1621Ile)
n.263C>T
c.1368C>T
c.5408C>T (p.Thr1803Ile)
c.4589C>T (p.Thr1530Ile)
c.4043C>T (p.Thr1348Ile)
c.5957C>T (p.Thr1986Ile)
c.5684C>T (p.Thr1895Ile)
c.5138C>T (p.Thr1713Ile)
c.4865C>T (p.Thr1622Ile)
c.4316C>T (p.Thr1439Ile)
c.6230C>T (p.Thr2077Ile)
c.5954C>T (p.Thr1985Ile)
9g.115035310G>CCA374626597TNCc.3770C>G (p.Thr1257Ser)
c.4592C>G (p.Thr1531Ser)
c.2624C>G (p.Thr875Ser)
c.1280C>G (p.Thr427Ser)
c.4639C>G
c.5681C>G (p.Thr1894Ser)
c.5135C>G (p.Thr1712Ser)
c.4862C>G (p.Thr1621Ser)
n.263C>G
c.1368C>G
c.5408C>G (p.Thr1803Ser)
c.4589C>G (p.Thr1530Ser)
c.4043C>G (p.Thr1348Ser)
c.5957C>G (p.Thr1986Ser)
c.5684C>G (p.Thr1895Ser)
c.5138C>G (p.Thr1713Ser)
c.4865C>G (p.Thr1622Ser)
c.4316C>G (p.Thr1439Ser)
c.6230C>G (p.Thr2077Ser)
c.5954C>G (p.Thr1985Ser)
 dbSNP
9g.115035310G=CA1874113770TNCc.3770C= (p.Thr1257=)
c.4592C= (p.Thr1531=)
c.2624C= (p.Thr875=)
c.1280C= (p.Thr427=)
c.4639C=
c.5681C= (p.Thr1894=)
c.5135C= (p.Thr1712=)
c.4862C= (p.Thr1621=)
n.263C=
c.1368C=
c.5408C= (p.Thr1803=)
c.4589C= (p.Thr1530=)
c.4043C= (p.Thr1348=)
c.5957C= (p.Thr1986=)
c.5684C= (p.Thr1895=)
c.5138C= (p.Thr1713=)
c.4865C= (p.Thr1622=)
c.4316C= (p.Thr1439=)
c.6230C= (p.Thr2077=)
c.5954C= (p.Thr1985=)
9g.115035310G>TCA374626598TNCc.3770C>A (p.Thr1257Asn)
c.4592C>A (p.Thr1531Asn)
c.2624C>A (p.Thr875Asn)
c.1280C>A (p.Thr427Asn)
c.4639C>A
c.5681C>A (p.Thr1894Asn)
c.5135C>A (p.Thr1712Asn)
c.4862C>A (p.Thr1621Asn)
n.263C>A
c.1368C>A
c.5408C>A (p.Thr1803Asn)
c.4589C>A (p.Thr1530Asn)
c.4043C>A (p.Thr1348Asn)
c.5957C>A (p.Thr1986Asn)
c.5684C>A (p.Thr1895Asn)
c.5138C>A (p.Thr1713Asn)
c.4865C>A (p.Thr1622Asn)
c.4316C>A (p.Thr1439Asn)
c.6230C>A (p.Thr2077Asn)
c.5954C>A (p.Thr1985Asn)
9g.115035311T>ACA374626599TNCc.3769A>T (p.Thr1257Ser)
c.4591A>T (p.Thr1531Ser)
c.2623A>T (p.Thr875Ser)
c.1279A>T (p.Thr427Ser)
c.4638A>T
c.5680A>T (p.Thr1894Ser)
c.5134A>T (p.Thr1712Ser)
c.4861A>T (p.Thr1621Ser)
n.262A>T
c.1367A>T
c.5407A>T (p.Thr1803Ser)
c.4588A>T (p.Thr1530Ser)
c.4042A>T (p.Thr1348Ser)
c.5956A>T (p.Thr1986Ser)
c.5683A>T (p.Thr1895Ser)
c.5137A>T (p.Thr1713Ser)
c.4864A>T (p.Thr1622Ser)
c.4315A>T (p.Thr1439Ser)
c.6229A>T (p.Thr2077Ser)
c.5953A>T (p.Thr1985Ser)
9g.115035311T>CCA374626600TNCc.3769A>G (p.Thr1257Ala)
c.4591A>G (p.Thr1531Ala)
c.2623A>G (p.Thr875Ala)
c.1279A>G (p.Thr427Ala)
c.4638A>G
c.5680A>G (p.Thr1894Ala)
c.5134A>G (p.Thr1712Ala)
c.4861A>G (p.Thr1621Ala)
n.262A>G
c.1367A>G
c.5407A>G (p.Thr1803Ala)
c.4588A>G (p.Thr1530Ala)
c.4042A>G (p.Thr1348Ala)
c.5956A>G (p.Thr1986Ala)
c.5683A>G (p.Thr1895Ala)
c.5137A>G (p.Thr1713Ala)
c.4864A>G (p.Thr1622Ala)
c.4315A>G (p.Thr1439Ala)
c.6229A>G (p.Thr2077Ala)
c.5953A>G (p.Thr1985Ala)
9g.115035311T>GCA374626601TNCc.3769A>C (p.Thr1257Pro)
c.4591A>C (p.Thr1531Pro)
c.2623A>C (p.Thr875Pro)
c.1279A>C (p.Thr427Pro)
c.4638A>C
c.5680A>C (p.Thr1894Pro)
c.5134A>C (p.Thr1712Pro)
c.4861A>C (p.Thr1621Pro)
n.262A>C
c.1367A>C
c.5407A>C (p.Thr1803Pro)
c.4588A>C (p.Thr1530Pro)
c.4042A>C (p.Thr1348Pro)
c.5956A>C (p.Thr1986Pro)
c.5683A>C (p.Thr1895Pro)
c.5137A>C (p.Thr1713Pro)
c.4864A>C (p.Thr1622Pro)
c.4315A>C (p.Thr1439Pro)
c.6229A>C (p.Thr2077Pro)
c.5953A>C (p.Thr1985Pro)
9g.115035312C>ACA374626602TNCc.3768G>T (p.Leu1256Phe)
c.4590G>T (p.Leu1530Phe)
c.2622G>T (p.Leu874Phe)
c.1278G>T (p.Leu426Phe)
c.4637G>T
c.5679G>T (p.Leu1893Phe)
c.5133G>T (p.Leu1711Phe)
c.4860G>T (p.Leu1620Phe)
n.261G>T
c.1366G>T
c.5406G>T (p.Leu1802Phe)
c.4587G>T (p.Leu1529Phe)
c.4041G>T (p.Leu1347Phe)
c.5955G>T (p.Leu1985Phe)
c.5682G>T (p.Leu1894Phe)
c.5136G>T (p.Leu1712Phe)
c.4863G>T (p.Leu1621Phe)
c.4314G>T (p.Leu1438Phe)
c.6228G>T (p.Leu2076Phe)
c.5952G>T (p.Leu1984Phe)
9g.115035312C>GCA374626603TNCc.3768G>C (p.Leu1256Phe)
c.4590G>C (p.Leu1530Phe)
c.2622G>C (p.Leu874Phe)
c.1278G>C (p.Leu426Phe)
c.4637G>C
c.5679G>C (p.Leu1893Phe)
c.5133G>C (p.Leu1711Phe)
c.4860G>C (p.Leu1620Phe)
n.261G>C
c.1366G>C
c.5406G>C (p.Leu1802Phe)
c.4587G>C (p.Leu1529Phe)
c.4041G>C (p.Leu1347Phe)
c.5955G>C (p.Leu1985Phe)
c.5682G>C (p.Leu1894Phe)
c.5136G>C (p.Leu1712Phe)
c.4863G>C (p.Leu1621Phe)
c.4314G>C (p.Leu1438Phe)
c.6228G>C (p.Leu2076Phe)
c.5952G>C (p.Leu1984Phe)
9g.115035312C>TCA466790371TNCc.3768G>A (p.Leu1256=)
c.4590G>A (p.Leu1530=)
c.2622G>A (p.Leu874=)
c.1278G>A (p.Leu426=)
c.4637G>A
c.5679G>A (p.Leu1893=)
c.5133G>A (p.Leu1711=)
c.4860G>A (p.Leu1620=)
n.261G>A
c.1366G>A
c.5406G>A (p.Leu1802=)
c.4587G>A (p.Leu1529=)
c.4041G>A (p.Leu1347=)
c.5955G>A (p.Leu1985=)
c.5682G>A (p.Leu1894=)
c.5136G>A (p.Leu1712=)
c.4863G>A (p.Leu1621=)
c.4314G>A (p.Leu1438=)
c.6228G>A (p.Leu2076=)
c.5952G>A (p.Leu1984=)
9g.115035313A>CCA374626604TNCc.3767T>G (p.Leu1256Trp)
c.4589T>G (p.Leu1530Trp)
c.2621T>G (p.Leu874Trp)
c.1277T>G (p.Leu426Trp)
c.4636T>G
c.5678T>G (p.Leu1893Trp)
c.5132T>G (p.Leu1711Trp)
c.4859T>G (p.Leu1620Trp)
n.260T>G
c.1365T>G
c.5405T>G (p.Leu1802Trp)
c.4586T>G (p.Leu1529Trp)
c.4040T>G (p.Leu1347Trp)
c.5954T>G (p.Leu1985Trp)
c.5681T>G (p.Leu1894Trp)
c.5135T>G (p.Leu1712Trp)
c.4862T>G (p.Leu1621Trp)
c.4313T>G (p.Leu1438Trp)
c.6227T>G (p.Leu2076Trp)
c.5951T>G (p.Leu1984Trp)
9g.115035313A>GCA374626606TNCc.3767T>C (p.Leu1256Ser)
c.4589T>C (p.Leu1530Ser)
c.2621T>C (p.Leu874Ser)
c.1277T>C (p.Leu426Ser)
c.4636T>C
c.5678T>C (p.Leu1893Ser)
c.5132T>C (p.Leu1711Ser)
c.4859T>C (p.Leu1620Ser)
n.260T>C
c.1365T>C
c.5405T>C (p.Leu1802Ser)
c.4586T>C (p.Leu1529Ser)
c.4040T>C (p.Leu1347Ser)
c.5954T>C (p.Leu1985Ser)
c.5681T>C (p.Leu1894Ser)
c.5135T>C (p.Leu1712Ser)
c.4862T>C (p.Leu1621Ser)
c.4313T>C (p.Leu1438Ser)
c.6227T>C (p.Leu2076Ser)
c.5951T>C (p.Leu1984Ser)
9g.115035313A>TCA374626605TNCc.3767T>A (p.Leu1256Ter)
c.4589T>A (p.Leu1530Ter)
c.2621T>A (p.Leu874Ter)
c.1277T>A (p.Leu426Ter)
c.4636T>A
c.5678T>A (p.Leu1893Ter)
c.5132T>A (p.Leu1711Ter)
c.4859T>A (p.Leu1620Ter)
n.260T>A
c.1365T>A
c.5405T>A (p.Leu1802Ter)
c.4586T>A (p.Leu1529Ter)
c.4040T>A (p.Leu1347Ter)
c.5954T>A (p.Leu1985Ter)
c.5681T>A (p.Leu1894Ter)
c.5135T>A (p.Leu1712Ter)
c.4862T>A (p.Leu1621Ter)
c.4313T>A (p.Leu1438Ter)
c.6227T>A (p.Leu2076Ter)
c.5951T>A (p.Leu1984Ter)
9g.115035314A>CCA374626607TNCc.3766T>G (p.Leu1256Val)
c.4588T>G (p.Leu1530Val)
c.2620T>G (p.Leu874Val)
c.1276T>G (p.Leu426Val)
c.4635T>G
c.5677T>G (p.Leu1893Val)
c.5131T>G (p.Leu1711Val)
c.4858T>G (p.Leu1620Val)
n.259T>G
c.1364T>G
c.5404T>G (p.Leu1802Val)
c.4585T>G (p.Leu1529Val)
c.4039T>G (p.Leu1347Val)
c.5953T>G (p.Leu1985Val)
c.5680T>G (p.Leu1894Val)
c.5134T>G (p.Leu1712Val)
c.4861T>G (p.Leu1621Val)
c.4312T>G (p.Leu1438Val)
c.6226T>G (p.Leu2076Val)
c.5950T>G (p.Leu1984Val)
 COSMIC
9g.115035314A>GCA466790383TNCc.3766T>C (p.Leu1256=)
c.4588T>C (p.Leu1530=)
c.2620T>C (p.Leu874=)
c.1276T>C (p.Leu426=)
c.4635T>C
c.5677T>C (p.Leu1893=)
c.5131T>C (p.Leu1711=)
c.4858T>C (p.Leu1620=)
n.259T>C
c.1364T>C
c.5404T>C (p.Leu1802=)
c.4585T>C (p.Leu1529=)
c.4039T>C (p.Leu1347=)
c.5953T>C (p.Leu1985=)
c.5680T>C (p.Leu1894=)
c.5134T>C (p.Leu1712=)
c.4861T>C (p.Leu1621=)
c.4312T>C (p.Leu1438=)
c.6226T>C (p.Leu2076=)
c.5950T>C (p.Leu1984=)
 gnomAD v4
9g.115035314A>TCA374626608TNCc.3766T>A (p.Leu1256Met)
c.4588T>A (p.Leu1530Met)
c.2620T>A (p.Leu874Met)
c.1276T>A (p.Leu426Met)
c.4635T>A
c.5677T>A (p.Leu1893Met)
c.5131T>A (p.Leu1711Met)
c.4858T>A (p.Leu1620Met)
n.259T>A
c.1364T>A
c.5404T>A (p.Leu1802Met)
c.4585T>A (p.Leu1529Met)
c.4039T>A (p.Leu1347Met)
c.5953T>A (p.Leu1985Met)
c.5680T>A (p.Leu1894Met)
c.5134T>A (p.Leu1712Met)
c.4861T>A (p.Leu1621Met)
c.4312T>A (p.Leu1438Met)
c.6226T>A (p.Leu2076Met)
c.5950T>A (p.Leu1984Met)
 dbSNP gnomAD v4
9g.115035315G>ACA466790386TNCc.3765C>T (p.Asp1255=)
c.4587C>T (p.Asp1529=)
c.2619C>T (p.Asp873=)
c.1275C>T (p.Asp425=)
c.4634C>T
c.5676C>T (p.Asp1892=)
c.5130C>T (p.Asp1710=)
c.4857C>T (p.Asp1619=)
n.258C>T
c.1363C>T
c.5403C>T (p.Asp1801=)
c.4584C>T (p.Asp1528=)
c.4038C>T (p.Asp1346=)
c.5952C>T (p.Asp1984=)
c.5679C>T (p.Asp1893=)
c.5133C>T (p.Asp1711=)
c.4860C>T (p.Asp1620=)
c.4311C>T (p.Asp1437=)
c.6225C>T (p.Asp2075=)
c.5949C>T (p.Asp1983=)
9g.115035315G>CCA374626609TNCc.3765C>G (p.Asp1255Glu)
c.4587C>G (p.Asp1529Glu)
c.2619C>G (p.Asp873Glu)
c.1275C>G (p.Asp425Glu)
c.4634C>G
c.5676C>G (p.Asp1892Glu)
c.5130C>G (p.Asp1710Glu)
c.4857C>G (p.Asp1619Glu)
n.258C>G
c.1363C>G
c.5403C>G (p.Asp1801Glu)
c.4584C>G (p.Asp1528Glu)
c.4038C>G (p.Asp1346Glu)
c.5952C>G (p.Asp1984Glu)
c.5679C>G (p.Asp1893Glu)
c.5133C>G (p.Asp1711Glu)
c.4860C>G (p.Asp1620Glu)
c.4311C>G (p.Asp1437Glu)
c.6225C>G (p.Asp2075Glu)
c.5949C>G (p.Asp1983Glu)
9g.115035315G>TCA374626610TNCc.3765C>A (p.Asp1255Glu)
c.4587C>A (p.Asp1529Glu)
c.2619C>A (p.Asp873Glu)
c.1275C>A (p.Asp425Glu)
c.4634C>A
c.5676C>A (p.Asp1892Glu)
c.5130C>A (p.Asp1710Glu)
c.4857C>A (p.Asp1619Glu)
n.258C>A
c.1363C>A
c.5403C>A (p.Asp1801Glu)
c.4584C>A (p.Asp1528Glu)
c.4038C>A (p.Asp1346Glu)
c.5952C>A (p.Asp1984Glu)
c.5679C>A (p.Asp1893Glu)
c.5133C>A (p.Asp1711Glu)
c.4860C>A (p.Asp1620Glu)
c.4311C>A (p.Asp1437Glu)
c.6225C>A (p.Asp2075Glu)
c.5949C>A (p.Asp1983Glu)
9g.115035315_115035316insGTATTTTAAGTATACA2514398963TNCc.3764_3765insTATACTTAAAATAC (p.Leu1256IlefsTer6)
c.4586_4587insTATACTTAAAATAC (p.Leu1530IlefsTer6)
c.2618_2619insTATACTTAAAATAC (p.Leu874IlefsTer6)
c.1274_1275insTATACTTAAAATAC (p.Leu426IlefsTer6)
c.4633_4634insTATACTTAAAATAC
c.5675_5676insTATACTTAAAATAC (p.Leu1893IlefsTer6)
c.5129_5130insTATACTTAAAATAC (p.Leu1711IlefsTer6)
c.4856_4857insTATACTTAAAATAC (p.Leu1620IlefsTer6)
n.257_258insTATACTTAAAATAC
c.1362_1363insTATACTTAAAATAC
c.5402_5403insTATACTTAAAATAC (p.Leu1802IlefsTer6)
c.4583_4584insTATACTTAAAATAC (p.Leu1529IlefsTer6)
c.4037_4038insTATACTTAAAATAC (p.Leu1347IlefsTer6)
c.5951_5952insTATACTTAAAATAC (p.Leu1985IlefsTer6)
c.5678_5679insTATACTTAAAATAC (p.Leu1894IlefsTer6)
c.5132_5133insTATACTTAAAATAC (p.Leu1712IlefsTer6)
c.4859_4860insTATACTTAAAATAC (p.Leu1621IlefsTer6)
c.4310_4311insTATACTTAAAATAC (p.Leu1438IlefsTer6)
c.6224_6225insTATACTTAAAATAC (p.Leu2076IlefsTer6)
c.5948_5949insTATACTTAAAATAC (p.Leu1984IlefsTer6)
9g.115035316T>ACA374626611TNCc.3764A>T (p.Asp1255Val)
c.4586A>T (p.Asp1529Val)
c.2618A>T (p.Asp873Val)
c.1274A>T (p.Asp425Val)
c.4633A>T
c.5675A>T (p.Asp1892Val)
c.5129A>T (p.Asp1710Val)
c.4856A>T (p.Asp1619Val)
n.257A>T
c.1362A>T
c.5402A>T (p.Asp1801Val)
c.4583A>T (p.Asp1528Val)
c.4037A>T (p.Asp1346Val)
c.5951A>T (p.Asp1984Val)
c.5678A>T (p.Asp1893Val)
c.5132A>T (p.Asp1711Val)
c.4859A>T (p.Asp1620Val)
c.4310A>T (p.Asp1437Val)
c.6224A>T (p.Asp2075Val)
c.5948A>T (p.Asp1983Val)
9g.115035316T>CCA374626612TNCc.3764A>G (p.Asp1255Gly)
c.4586A>G (p.Asp1529Gly)
c.2618A>G (p.Asp873Gly)
c.1274A>G (p.Asp425Gly)
c.4633A>G
c.5675A>G (p.Asp1892Gly)
c.5129A>G (p.Asp1710Gly)
c.4856A>G (p.Asp1619Gly)
n.257A>G
c.1362A>G
c.5402A>G (p.Asp1801Gly)
c.4583A>G (p.Asp1528Gly)
c.4037A>G (p.Asp1346Gly)
c.5951A>G (p.Asp1984Gly)
c.5678A>G (p.Asp1893Gly)
c.5132A>G (p.Asp1711Gly)
c.4859A>G (p.Asp1620Gly)
c.4310A>G (p.Asp1437Gly)
c.6224A>G (p.Asp2075Gly)
c.5948A>G (p.Asp1983Gly)
9g.115035316T>GCA374626613TNCc.3764A>C (p.Asp1255Ala)
c.4586A>C (p.Asp1529Ala)
c.2618A>C (p.Asp873Ala)
c.1274A>C (p.Asp425Ala)
c.4633A>C
c.5675A>C (p.Asp1892Ala)
c.5129A>C (p.Asp1710Ala)
c.4856A>C (p.Asp1619Ala)
n.257A>C
c.1362A>C
c.5402A>C (p.Asp1801Ala)
c.4583A>C (p.Asp1528Ala)
c.4037A>C (p.Asp1346Ala)
c.5951A>C (p.Asp1984Ala)
c.5678A>C (p.Asp1893Ala)
c.5132A>C (p.Asp1711Ala)
c.4859A>C (p.Asp1620Ala)
c.4310A>C (p.Asp1437Ala)
c.6224A>C (p.Asp2075Ala)
c.5948A>C (p.Asp1983Ala)
9g.115035317C>ACA374626614TNCc.3763G>T (p.Asp1255Tyr)
c.4585G>T (p.Asp1529Tyr)
c.2617G>T (p.Asp873Tyr)
c.1273G>T (p.Asp425Tyr)
c.4632G>T
c.5674G>T (p.Asp1892Tyr)
c.5128G>T (p.Asp1710Tyr)
c.4855G>T (p.Asp1619Tyr)
n.256G>T
c.1361G>T
c.5401G>T (p.Asp1801Tyr)
c.4582G>T (p.Asp1528Tyr)
c.4036G>T (p.Asp1346Tyr)
c.5950G>T (p.Asp1984Tyr)
c.5677G>T (p.Asp1893Tyr)
c.5131G>T (p.Asp1711Tyr)
c.4858G>T (p.Asp1620Tyr)
c.4309G>T (p.Asp1437Tyr)
c.6223G>T (p.Asp2075Tyr)
c.5947G>T (p.Asp1983Tyr)
9g.115035317C=CA1874113771TNCc.3763G= (p.Asp1255=)
c.4585G= (p.Asp1529=)
c.2617G= (p.Asp873=)
c.1273G= (p.Asp425=)
c.4632G=
c.5674G= (p.Asp1892=)
c.5128G= (p.Asp1710=)
c.4855G= (p.Asp1619=)
n.256G=
c.1361G=
c.5401G= (p.Asp1801=)
c.4582G= (p.Asp1528=)
c.4036G= (p.Asp1346=)
c.5950G= (p.Asp1984=)
c.5677G= (p.Asp1893=)
c.5131G= (p.Asp1711=)
c.4858G= (p.Asp1620=)
c.4309G= (p.Asp1437=)
c.6223G= (p.Asp2075=)
c.5947G= (p.Asp1983=)
9g.115035317C>GCA374626615TNCc.3763G>C (p.Asp1255His)
c.4585G>C (p.Asp1529His)
c.2617G>C (p.Asp873His)
c.1273G>C (p.Asp425His)
c.4632G>C
c.5674G>C (p.Asp1892His)
c.5128G>C (p.Asp1710His)
c.4855G>C (p.Asp1619His)
n.256G>C
c.1361G>C
c.5401G>C (p.Asp1801His)
c.4582G>C (p.Asp1528His)
c.4036G>C (p.Asp1346His)
c.5950G>C (p.Asp1984His)
c.5677G>C (p.Asp1893His)
c.5131G>C (p.Asp1711His)
c.4858G>C (p.Asp1620His)
c.4309G>C (p.Asp1437His)
c.6223G>C (p.Asp2075His)
c.5947G>C (p.Asp1983His)
9g.115035317C>TCA5207567TNCc.3763G>A (p.Asp1255Asn)
c.4585G>A (p.Asp1529Asn)
c.2617G>A (p.Asp873Asn)
c.1273G>A (p.Asp425Asn)
c.4632G>A
c.5674G>A (p.Asp1892Asn)
c.5128G>A (p.Asp1710Asn)
c.4855G>A (p.Asp1619Asn)
n.256G>A
c.1361G>A
c.5401G>A (p.Asp1801Asn)
c.4582G>A (p.Asp1528Asn)
c.4036G>A (p.Asp1346Asn)
c.5950G>A (p.Asp1984Asn)
c.5677G>A (p.Asp1893Asn)
c.5131G>A (p.Asp1711Asn)
c.4858G>A (p.Asp1620Asn)
c.4309G>A (p.Asp1437Asn)
c.6223G>A (p.Asp2075Asn)
c.5947G>A (p.Asp1983Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115035318T>ACA374626617TNCc.3762A>T (p.Arg1254Ser)
c.4584A>T (p.Arg1528Ser)
c.2616A>T (p.Arg872Ser)
c.1272A>T (p.Arg424Ser)
c.4631A>T
c.5673A>T (p.Arg1891Ser)
c.5127A>T (p.Arg1709Ser)
c.4854A>T (p.Arg1618Ser)
n.255A>T
c.1360A>T
c.5400A>T (p.Arg1800Ser)
c.4581A>T (p.Arg1527Ser)
c.4035A>T (p.Arg1345Ser)
c.5949A>T (p.Arg1983Ser)
c.5676A>T (p.Arg1892Ser)
c.5130A>T (p.Arg1710Ser)
c.4857A>T (p.Arg1619Ser)
c.4308A>T (p.Arg1436Ser)
c.6222A>T (p.Arg2074Ser)
c.5946A>T (p.Arg1982Ser)
9g.115035318T>CCA5207568TNCc.3762A>G (p.Arg1254=)
c.4584A>G (p.Arg1528=)
c.2616A>G (p.Arg872=)
c.1272A>G (p.Arg424=)
c.4631A>G
c.5673A>G (p.Arg1891=)
c.5127A>G (p.Arg1709=)
c.4854A>G (p.Arg1618=)
n.255A>G
c.1360A>G
c.5400A>G (p.Arg1800=)
c.4581A>G (p.Arg1527=)
c.4035A>G (p.Arg1345=)
c.5949A>G (p.Arg1983=)
c.5676A>G (p.Arg1892=)
c.5130A>G (p.Arg1710=)
c.4857A>G (p.Arg1619=)
c.4308A>G (p.Arg1436=)
c.6222A>G (p.Arg2074=)
c.5946A>G (p.Arg1982=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035318T>GCA374626616TNCc.3762A>C (p.Arg1254Ser)
c.4584A>C (p.Arg1528Ser)
c.2616A>C (p.Arg872Ser)
c.1272A>C (p.Arg424Ser)
c.4631A>C
c.5673A>C (p.Arg1891Ser)
c.5127A>C (p.Arg1709Ser)
c.4854A>C (p.Arg1618Ser)
n.255A>C
c.1360A>C
c.5400A>C (p.Arg1800Ser)
c.4581A>C (p.Arg1527Ser)
c.4035A>C (p.Arg1345Ser)
c.5949A>C (p.Arg1983Ser)
c.5676A>C (p.Arg1892Ser)
c.5130A>C (p.Arg1710Ser)
c.4857A>C (p.Arg1619Ser)
c.4308A>C (p.Arg1436Ser)
c.6222A>C (p.Arg2074Ser)
c.5946A>C (p.Arg1982Ser)
9g.115035318T=CA1874113772TNCc.3762A= (p.Arg1254=)
c.4584A= (p.Arg1528=)
c.2616A= (p.Arg872=)
c.1272A= (p.Arg424=)
c.4631A=
c.5673A= (p.Arg1891=)
c.5127A= (p.Arg1709=)
c.4854A= (p.Arg1618=)
n.255A=
c.1360A=
c.5400A= (p.Arg1800=)
c.4581A= (p.Arg1527=)
c.4035A= (p.Arg1345=)
c.5949A= (p.Arg1983=)
c.5676A= (p.Arg1892=)
c.5130A= (p.Arg1710=)
c.4857A= (p.Arg1619=)
c.4308A= (p.Arg1436=)
c.6222A= (p.Arg2074=)
c.5946A= (p.Arg1982=)
9g.115035319C>ACA374626618TNCc.3761G>T (p.Arg1254Ile)
c.4583G>T (p.Arg1528Ile)
c.2615G>T (p.Arg872Ile)
c.1271G>T (p.Arg424Ile)
c.4630G>T
c.5672G>T (p.Arg1891Ile)
c.5126G>T (p.Arg1709Ile)
c.4853G>T (p.Arg1618Ile)
n.254G>T
c.1359G>T
c.5399G>T (p.Arg1800Ile)
c.4580G>T (p.Arg1527Ile)
c.4034G>T (p.Arg1345Ile)
c.5948G>T (p.Arg1983Ile)
c.5675G>T (p.Arg1892Ile)
c.5129G>T (p.Arg1710Ile)
c.4856G>T (p.Arg1619Ile)
c.4307G>T (p.Arg1436Ile)
c.6221G>T (p.Arg2074Ile)
c.5945G>T (p.Arg1982Ile)
9g.115035319C=CA1874113773TNCc.3761G= (p.Arg1254=)
c.4583G= (p.Arg1528=)
c.2615G= (p.Arg872=)
c.1271G= (p.Arg424=)
c.4630G=
c.5672G= (p.Arg1891=)
c.5126G= (p.Arg1709=)
c.4853G= (p.Arg1618=)
n.254G=
c.1359G=
c.5399G= (p.Arg1800=)
c.4580G= (p.Arg1527=)
c.4034G= (p.Arg1345=)
c.5948G= (p.Arg1983=)
c.5675G= (p.Arg1892=)
c.5129G= (p.Arg1710=)
c.4856G= (p.Arg1619=)
c.4307G= (p.Arg1436=)
c.6221G= (p.Arg2074=)
c.5945G= (p.Arg1982=)
9g.115035319C>GCA374626619TNCc.3761G>C (p.Arg1254Thr)
c.4583G>C (p.Arg1528Thr)
c.2615G>C (p.Arg872Thr)
c.1271G>C (p.Arg424Thr)
c.4630G>C
c.5672G>C (p.Arg1891Thr)
c.5126G>C (p.Arg1709Thr)
c.4853G>C (p.Arg1618Thr)
n.254G>C
c.1359G>C
c.5399G>C (p.Arg1800Thr)
c.4580G>C (p.Arg1527Thr)
c.4034G>C (p.Arg1345Thr)
c.5948G>C (p.Arg1983Thr)
c.5675G>C (p.Arg1892Thr)
c.5129G>C (p.Arg1710Thr)
c.4856G>C (p.Arg1619Thr)
c.4307G>C (p.Arg1436Thr)
c.6221G>C (p.Arg2074Thr)
c.5945G>C (p.Arg1982Thr)
 gnomAD v4
9g.115035319C>TCA5207569TNCc.3761G>A (p.Arg1254Lys)
c.4583G>A (p.Arg1528Lys)
c.2615G>A (p.Arg872Lys)
c.1271G>A (p.Arg424Lys)
c.4630G>A
c.5672G>A (p.Arg1891Lys)
c.5126G>A (p.Arg1709Lys)
c.4853G>A (p.Arg1618Lys)
n.254G>A
c.1359G>A
c.5399G>A (p.Arg1800Lys)
c.4580G>A (p.Arg1527Lys)
c.4034G>A (p.Arg1345Lys)
c.5948G>A (p.Arg1983Lys)
c.5675G>A (p.Arg1892Lys)
c.5129G>A (p.Arg1710Lys)
c.4856G>A (p.Arg1619Lys)
c.4307G>A (p.Arg1436Lys)
c.6221G>A (p.Arg2074Lys)
c.5945G>A (p.Arg1982Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035320T>ACA374626620TNCc.3760A>T (p.Arg1254Ter)
c.4582A>T (p.Arg1528Ter)
c.2614A>T (p.Arg872Ter)
c.1270A>T (p.Arg424Ter)
c.4629A>T
c.5671A>T (p.Arg1891Ter)
c.5125A>T (p.Arg1709Ter)
c.4852A>T (p.Arg1618Ter)
n.253A>T
c.1358A>T
c.5398A>T (p.Arg1800Ter)
c.4579A>T (p.Arg1527Ter)
c.4033A>T (p.Arg1345Ter)
c.5947A>T (p.Arg1983Ter)
c.5674A>T (p.Arg1892Ter)
c.5128A>T (p.Arg1710Ter)
c.4855A>T (p.Arg1619Ter)
c.4306A>T (p.Arg1436Ter)
c.6220A>T (p.Arg2074Ter)
c.5944A>T (p.Arg1982Ter)
9g.115035320T>CCA374626621TNCc.3760A>G (p.Arg1254Gly)
c.4582A>G (p.Arg1528Gly)
c.2614A>G (p.Arg872Gly)
c.1270A>G (p.Arg424Gly)
c.4629A>G
c.5671A>G (p.Arg1891Gly)
c.5125A>G (p.Arg1709Gly)
c.4852A>G (p.Arg1618Gly)
n.253A>G
c.1358A>G
c.5398A>G (p.Arg1800Gly)
c.4579A>G (p.Arg1527Gly)
c.4033A>G (p.Arg1345Gly)
c.5947A>G (p.Arg1983Gly)
c.5674A>G (p.Arg1892Gly)
c.5128A>G (p.Arg1710Gly)
c.4855A>G (p.Arg1619Gly)
c.4306A>G (p.Arg1436Gly)
c.6220A>G (p.Arg2074Gly)
c.5944A>G (p.Arg1982Gly)
9g.115035320T>GCA466790388TNCc.3760A>C (p.Arg1254=)
c.4582A>C (p.Arg1528=)
c.2614A>C (p.Arg872=)
c.1270A>C (p.Arg424=)
c.4629A>C
c.5671A>C (p.Arg1891=)
c.5125A>C (p.Arg1709=)
c.4852A>C (p.Arg1618=)
n.253A>C
c.1358A>C
c.5398A>C (p.Arg1800=)
c.4579A>C (p.Arg1527=)
c.4033A>C (p.Arg1345=)
c.5947A>C (p.Arg1983=)
c.5674A>C (p.Arg1892=)
c.5128A>C (p.Arg1710=)
c.4855A>C (p.Arg1619=)
c.4306A>C (p.Arg1436=)
c.6220A>C (p.Arg2074=)
c.5944A>C (p.Arg1982=)
9g.115035321T>ACA466790391TNCc.3759A>T (p.Pro1253=)
c.4581A>T (p.Pro1527=)
c.2613A>T (p.Pro871=)
c.1269A>T (p.Pro423=)
c.4628A>T
c.5670A>T (p.Pro1890=)
c.5124A>T (p.Pro1708=)
c.4851A>T (p.Pro1617=)
n.252A>T
c.1357A>T
c.5397A>T (p.Pro1799=)
c.4578A>T (p.Pro1526=)
c.4032A>T (p.Pro1344=)
c.5946A>T (p.Pro1982=)
c.5673A>T (p.Pro1891=)
c.5127A>T (p.Pro1709=)
c.4854A>T (p.Pro1618=)
c.4305A>T (p.Pro1435=)
c.6219A>T (p.Pro2073=)
c.5943A>T (p.Pro1981=)
9g.115035321T>CCA466790389TNCc.3759A>G (p.Pro1253=)
c.4581A>G (p.Pro1527=)
c.2613A>G (p.Pro871=)
c.1269A>G (p.Pro423=)
c.4628A>G
c.5670A>G (p.Pro1890=)
c.5124A>G (p.Pro1708=)
c.4851A>G (p.Pro1617=)
n.252A>G
c.1357A>G
c.5397A>G (p.Pro1799=)
c.4578A>G (p.Pro1526=)
c.4032A>G (p.Pro1344=)
c.5946A>G (p.Pro1982=)
c.5673A>G (p.Pro1891=)
c.5127A>G (p.Pro1709=)
c.4854A>G (p.Pro1618=)
c.4305A>G (p.Pro1435=)
c.6219A>G (p.Pro2073=)
c.5943A>G (p.Pro1981=)
9g.115035321T>GCA466790390TNCc.3759A>C (p.Pro1253=)
c.4581A>C (p.Pro1527=)
c.2613A>C (p.Pro871=)
c.1269A>C (p.Pro423=)
c.4628A>C
c.5670A>C (p.Pro1890=)
c.5124A>C (p.Pro1708=)
c.4851A>C (p.Pro1617=)
n.252A>C
c.1357A>C
c.5397A>C (p.Pro1799=)
c.4578A>C (p.Pro1526=)
c.4032A>C (p.Pro1344=)
c.5946A>C (p.Pro1982=)
c.5673A>C (p.Pro1891=)
c.5127A>C (p.Pro1709=)
c.4854A>C (p.Pro1618=)
c.4305A>C (p.Pro1435=)
c.6219A>C (p.Pro2073=)
c.5943A>C (p.Pro1981=)
9g.115035322G>ACA374626622TNCc.3758C>T (p.Pro1253Leu)
c.4580C>T (p.Pro1527Leu)
c.2612C>T (p.Pro871Leu)
c.1268C>T (p.Pro423Leu)
c.4627C>T
c.5669C>T (p.Pro1890Leu)
c.5123C>T (p.Pro1708Leu)
c.4850C>T (p.Pro1617Leu)
n.251C>T
c.1356C>T
c.5396C>T (p.Pro1799Leu)
c.4577C>T (p.Pro1526Leu)
c.4031C>T (p.Pro1344Leu)
c.5945C>T (p.Pro1982Leu)
c.5672C>T (p.Pro1891Leu)
c.5126C>T (p.Pro1709Leu)
c.4853C>T (p.Pro1618Leu)
c.4304C>T (p.Pro1435Leu)
c.6218C>T (p.Pro2073Leu)
c.5942C>T (p.Pro1981Leu)
9g.115035322G>CCA374626623TNCc.3758C>G (p.Pro1253Arg)
c.4580C>G (p.Pro1527Arg)
c.2612C>G (p.Pro871Arg)
c.1268C>G (p.Pro423Arg)
c.4627C>G
c.5669C>G (p.Pro1890Arg)
c.5123C>G (p.Pro1708Arg)
c.4850C>G (p.Pro1617Arg)
n.251C>G
c.1356C>G
c.5396C>G (p.Pro1799Arg)
c.4577C>G (p.Pro1526Arg)
c.4031C>G (p.Pro1344Arg)
c.5945C>G (p.Pro1982Arg)
c.5672C>G (p.Pro1891Arg)
c.5126C>G (p.Pro1709Arg)
c.4853C>G (p.Pro1618Arg)
c.4304C>G (p.Pro1435Arg)
c.6218C>G (p.Pro2073Arg)
c.5942C>G (p.Pro1981Arg)
9g.115035322G>TCA374626624TNCc.3758C>A (p.Pro1253Gln)
c.4580C>A (p.Pro1527Gln)
c.2612C>A (p.Pro871Gln)
c.1268C>A (p.Pro423Gln)
c.4627C>A
c.5669C>A (p.Pro1890Gln)
c.5123C>A (p.Pro1708Gln)
c.4850C>A (p.Pro1617Gln)
n.251C>A
c.1356C>A
c.5396C>A (p.Pro1799Gln)
c.4577C>A (p.Pro1526Gln)
c.4031C>A (p.Pro1344Gln)
c.5945C>A (p.Pro1982Gln)
c.5672C>A (p.Pro1891Gln)
c.5126C>A (p.Pro1709Gln)
c.4853C>A (p.Pro1618Gln)
c.4304C>A (p.Pro1435Gln)
c.6218C>A (p.Pro2073Gln)
c.5942C>A (p.Pro1981Gln)
9g.115035323G>ACA374626625TNCc.3757C>T (p.Pro1253Ser)
c.4579C>T (p.Pro1527Ser)
c.2611C>T (p.Pro871Ser)
c.1267C>T (p.Pro423Ser)
c.4626C>T
c.5668C>T (p.Pro1890Ser)
c.5122C>T (p.Pro1708Ser)
c.4849C>T (p.Pro1617Ser)
n.250C>T
c.1355C>T
c.5395C>T (p.Pro1799Ser)
c.4576C>T (p.Pro1526Ser)
c.4030C>T (p.Pro1344Ser)
c.5944C>T (p.Pro1982Ser)
c.5671C>T (p.Pro1891Ser)
c.5125C>T (p.Pro1709Ser)
c.4852C>T (p.Pro1618Ser)
c.4303C>T (p.Pro1435Ser)
c.6217C>T (p.Pro2073Ser)
c.5941C>T (p.Pro1981Ser)
 gnomAD v4 COSMIC
9g.115035323G>CCA374626626TNCc.3757C>G (p.Pro1253Ala)
c.4579C>G (p.Pro1527Ala)
c.2611C>G (p.Pro871Ala)
c.1267C>G (p.Pro423Ala)
c.4626C>G
c.5668C>G (p.Pro1890Ala)
c.5122C>G (p.Pro1708Ala)
c.4849C>G (p.Pro1617Ala)
n.250C>G
c.1355C>G
c.5395C>G (p.Pro1799Ala)
c.4576C>G (p.Pro1526Ala)
c.4030C>G (p.Pro1344Ala)
c.5944C>G (p.Pro1982Ala)
c.5671C>G (p.Pro1891Ala)
c.5125C>G (p.Pro1709Ala)
c.4852C>G (p.Pro1618Ala)
c.4303C>G (p.Pro1435Ala)
c.6217C>G (p.Pro2073Ala)
c.5941C>G (p.Pro1981Ala)
9g.115035323G>TCA374626627TNCc.3757C>A (p.Pro1253Thr)
c.4579C>A (p.Pro1527Thr)
c.2611C>A (p.Pro871Thr)
c.1267C>A (p.Pro423Thr)
c.4626C>A
c.5668C>A (p.Pro1890Thr)
c.5122C>A (p.Pro1708Thr)
c.4849C>A (p.Pro1617Thr)
n.250C>A
c.1355C>A
c.5395C>A (p.Pro1799Thr)
c.4576C>A (p.Pro1526Thr)
c.4030C>A (p.Pro1344Thr)
c.5944C>A (p.Pro1982Thr)
c.5671C>A (p.Pro1891Thr)
c.5125C>A (p.Pro1709Thr)
c.4852C>A (p.Pro1618Thr)
c.4303C>A (p.Pro1435Thr)
c.6217C>A (p.Pro2073Thr)
c.5941C>A (p.Pro1981Thr)
 gnomAD v4
9g.115035324A=CA1874113774TNCc.3756T= (p.Ser1252=)
c.4578T= (p.Ser1526=)
c.2610T= (p.Ser870=)
c.1266T= (p.Ser422=)
c.4625T=
c.5667T= (p.Ser1889=)
c.5121T= (p.Ser1707=)
c.4848T= (p.Ser1616=)
n.249T=
c.1354T=
c.5394T= (p.Ser1798=)
c.4575T= (p.Ser1525=)
c.4029T= (p.Ser1343=)
c.5943T= (p.Ser1981=)
c.5670T= (p.Ser1890=)
c.5124T= (p.Ser1708=)
c.4851T= (p.Ser1617=)
c.4302T= (p.Ser1434=)
c.6216T= (p.Ser2072=)
c.5940T= (p.Ser1980=)
9g.115035324A>CCA466790392TNCc.3756T>G (p.Ser1252=)
c.4578T>G (p.Ser1526=)
c.2610T>G (p.Ser870=)
c.1266T>G (p.Ser422=)
c.4625T>G
c.5667T>G (p.Ser1889=)
c.5121T>G (p.Ser1707=)
c.4848T>G (p.Ser1616=)
n.249T>G
c.1354T>G
c.5394T>G (p.Ser1798=)
c.4575T>G (p.Ser1525=)
c.4029T>G (p.Ser1343=)
c.5943T>G (p.Ser1981=)
c.5670T>G (p.Ser1890=)
c.5124T>G (p.Ser1708=)
c.4851T>G (p.Ser1617=)
c.4302T>G (p.Ser1434=)
c.6216T>G (p.Ser2072=)
c.5940T>G (p.Ser1980=)
9g.115035324A>GCA5207570TNCc.3756T>C (p.Ser1252=)
c.4578T>C (p.Ser1526=)
c.2610T>C (p.Ser870=)
c.1266T>C (p.Ser422=)
c.4625T>C
c.5667T>C (p.Ser1889=)
c.5121T>C (p.Ser1707=)
c.4848T>C (p.Ser1616=)
n.249T>C
c.1354T>C
c.5394T>C (p.Ser1798=)
c.4575T>C (p.Ser1525=)
c.4029T>C (p.Ser1343=)
c.5943T>C (p.Ser1981=)
c.5670T>C (p.Ser1890=)
c.5124T>C (p.Ser1708=)
c.4851T>C (p.Ser1617=)
c.4302T>C (p.Ser1434=)
c.6216T>C (p.Ser2072=)
c.5940T>C (p.Ser1980=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115035324A>TCA466790393TNCc.3756T>A (p.Ser1252=)
c.4578T>A (p.Ser1526=)
c.2610T>A (p.Ser870=)
c.1266T>A (p.Ser422=)
c.4625T>A
c.5667T>A (p.Ser1889=)
c.5121T>A (p.Ser1707=)
c.4848T>A (p.Ser1616=)
n.249T>A
c.1354T>A
c.5394T>A (p.Ser1798=)
c.4575T>A (p.Ser1525=)
c.4029T>A (p.Ser1343=)
c.5943T>A (p.Ser1981=)
c.5670T>A (p.Ser1890=)
c.5124T>A (p.Ser1708=)
c.4851T>A (p.Ser1617=)
c.4302T>A (p.Ser1434=)
c.6216T>A (p.Ser2072=)
c.5940T>A (p.Ser1980=)
9g.115035325G>ACA374626629TNCc.3755C>T (p.Ser1252Phe)
c.4577C>T (p.Ser1526Phe)
c.2609C>T (p.Ser870Phe)
c.1265C>T (p.Ser422Phe)
c.4624C>T
c.5666C>T (p.Ser1889Phe)
c.5120C>T (p.Ser1707Phe)
c.4847C>T (p.Ser1616Phe)
n.248C>T
c.1353C>T
c.5393C>T (p.Ser1798Phe)
c.4574C>T (p.Ser1525Phe)
c.4028C>T (p.Ser1343Phe)
c.5942C>T (p.Ser1981Phe)
c.5669C>T (p.Ser1890Phe)
c.5123C>T (p.Ser1708Phe)
c.4850C>T (p.Ser1617Phe)
c.4301C>T (p.Ser1434Phe)
c.6215C>T (p.Ser2072Phe)
c.5939C>T (p.Ser1980Phe)
 COSMIC
9g.115035325G>CCA5207571TNCc.3755C>G (p.Ser1252Cys)
c.4577C>G (p.Ser1526Cys)
c.2609C>G (p.Ser870Cys)
c.1265C>G (p.Ser422Cys)
c.4624C>G
c.5666C>G (p.Ser1889Cys)
c.5120C>G (p.Ser1707Cys)
c.4847C>G (p.Ser1616Cys)
n.248C>G
c.1353C>G
c.5393C>G (p.Ser1798Cys)
c.4574C>G (p.Ser1525Cys)
c.4028C>G (p.Ser1343Cys)
c.5942C>G (p.Ser1981Cys)
c.5669C>G (p.Ser1890Cys)
c.5123C>G (p.Ser1708Cys)
c.4850C>G (p.Ser1617Cys)
c.4301C>G (p.Ser1434Cys)
c.6215C>G (p.Ser2072Cys)
c.5939C>G (p.Ser1980Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115035325G=CA1874113775TNCc.3755C= (p.Ser1252=)
c.4577C= (p.Ser1526=)
c.2609C= (p.Ser870=)
c.1265C= (p.Ser422=)
c.4624C=
c.5666C= (p.Ser1889=)
c.5120C= (p.Ser1707=)
c.4847C= (p.Ser1616=)
n.248C=
c.1353C=
c.5393C= (p.Ser1798=)
c.4574C= (p.Ser1525=)
c.4028C= (p.Ser1343=)
c.5942C= (p.Ser1981=)
c.5669C= (p.Ser1890=)
c.5123C= (p.Ser1708=)
c.4850C= (p.Ser1617=)
c.4301C= (p.Ser1434=)
c.6215C= (p.Ser2072=)
c.5939C= (p.Ser1980=)
9g.115035325G>TCA374626628TNCc.3755C>A (p.Ser1252Tyr)
c.4577C>A (p.Ser1526Tyr)
c.2609C>A (p.Ser870Tyr)
c.1265C>A (p.Ser422Tyr)
c.4624C>A
c.5666C>A (p.Ser1889Tyr)
c.5120C>A (p.Ser1707Tyr)
c.4847C>A (p.Ser1616Tyr)
n.248C>A
c.1353C>A
c.5393C>A (p.Ser1798Tyr)
c.4574C>A (p.Ser1525Tyr)
c.4028C>A (p.Ser1343Tyr)
c.5942C>A (p.Ser1981Tyr)
c.5669C>A (p.Ser1890Tyr)
c.5123C>A (p.Ser1708Tyr)
c.4850C>A (p.Ser1617Tyr)
c.4301C>A (p.Ser1434Tyr)
c.6215C>A (p.Ser2072Tyr)
c.5939C>A (p.Ser1980Tyr)
9g.115035326A=CA1874113776TNCc.3754T= (p.Ser1252=)
c.4576T= (p.Ser1526=)
c.2608T= (p.Ser870=)
c.1264T= (p.Ser422=)
c.4623T=
c.5665T= (p.Ser1889=)
c.5119T= (p.Ser1707=)
c.4846T= (p.Ser1616=)
n.247T=
c.1352T=
c.5392T= (p.Ser1798=)
c.4573T= (p.Ser1525=)
c.4027T= (p.Ser1343=)
c.5941T= (p.Ser1981=)
c.5668T= (p.Ser1890=)
c.5122T= (p.Ser1708=)
c.4849T= (p.Ser1617=)
c.4300T= (p.Ser1434=)
c.6214T= (p.Ser2072=)
c.5938T= (p.Ser1980=)
9g.115035326A>CCA374626630TNCc.3754T>G (p.Ser1252Ala)
c.4576T>G (p.Ser1526Ala)
c.2608T>G (p.Ser870Ala)
c.1264T>G (p.Ser422Ala)
c.4623T>G
c.5665T>G (p.Ser1889Ala)
c.5119T>G (p.Ser1707Ala)
c.4846T>G (p.Ser1616Ala)
n.247T>G
c.1352T>G
c.5392T>G (p.Ser1798Ala)
c.4573T>G (p.Ser1525Ala)
c.4027T>G (p.Ser1343Ala)
c.5941T>G (p.Ser1981Ala)
c.5668T>G (p.Ser1890Ala)
c.5122T>G (p.Ser1708Ala)
c.4849T>G (p.Ser1617Ala)
c.4300T>G (p.Ser1434Ala)
c.6214T>G (p.Ser2072Ala)
c.5938T>G (p.Ser1980Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.115035326A>GCA374626631TNCc.3754T>C (p.Ser1252Pro)
c.4576T>C (p.Ser1526Pro)
c.2608T>C (p.Ser870Pro)
c.1264T>C (p.Ser422Pro)
c.4623T>C
c.5665T>C (p.Ser1889Pro)
c.5119T>C (p.Ser1707Pro)
c.4846T>C (p.Ser1616Pro)
n.247T>C
c.1352T>C
c.5392T>C (p.Ser1798Pro)
c.4573T>C (p.Ser1525Pro)
c.4027T>C (p.Ser1343Pro)
c.5941T>C (p.Ser1981Pro)
c.5668T>C (p.Ser1890Pro)
c.5122T>C (p.Ser1708Pro)
c.4849T>C (p.Ser1617Pro)
c.4300T>C (p.Ser1434Pro)
c.6214T>C (p.Ser2072Pro)
c.5938T>C (p.Ser1980Pro)
9g.115035326A>TCA374626632TNCc.3754T>A (p.Ser1252Thr)
c.4576T>A (p.Ser1526Thr)
c.2608T>A (p.Ser870Thr)
c.1264T>A (p.Ser422Thr)
c.4623T>A
c.5665T>A (p.Ser1889Thr)
c.5119T>A (p.Ser1707Thr)
c.4846T>A (p.Ser1616Thr)
n.247T>A
c.1352T>A
c.5392T>A (p.Ser1798Thr)
c.4573T>A (p.Ser1525Thr)
c.4027T>A (p.Ser1343Thr)
c.5941T>A (p.Ser1981Thr)
c.5668T>A (p.Ser1890Thr)
c.5122T>A (p.Ser1708Thr)
c.4849T>A (p.Ser1617Thr)
c.4300T>A (p.Ser1434Thr)
c.6214T>A (p.Ser2072Thr)
c.5938T>A (p.Ser1980Thr)
9g.115035326_115035327insTAAAATGTCCTCAAGTCTTGTAAGCAGTGGTTCTTGATCTTGGCTGCCTCA2691395765TNCc.3753_3754insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1252ArgfsTer13)
c.4575_4576insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1526ArgfsTer13)
c.2607_2608insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser870ArgfsTer13)
c.1263_1264insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser422ArgfsTer13)
c.4622_4623insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA
c.5664_5665insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1889ArgfsTer13)
c.5118_5119insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1707ArgfsTer13)
c.4845_4846insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1616ArgfsTer13)
n.246_247insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA
c.1351_1352insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA
c.5391_5392insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1798ArgfsTer13)
c.4572_4573insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1525ArgfsTer13)
c.4026_4027insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1343ArgfsTer13)
c.5940_5941insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1981ArgfsTer13)
c.5667_5668insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1890ArgfsTer13)
c.5121_5122insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1708ArgfsTer13)
c.4848_4849insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1617ArgfsTer13)
c.4299_4300insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1434ArgfsTer13)
c.6213_6214insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser2072ArgfsTer13)
c.5937_5938insAGGCAGCCAAGATCAAGAACCACTGCTTACAAGACTTGAGGACATTTTA (p.Ser1980ArgfsTer13)
 gnomAD v4
9g.115035327A>CCA374626633TNCc.3753T>G (p.Asp1251Glu)
c.4575T>G (p.Asp1525Glu)
c.2607T>G (p.Asp869Glu)
c.1263T>G (p.Asp421Glu)
c.4622T>G
c.5664T>G (p.Asp1888Glu)
c.5118T>G (p.Asp1706Glu)
c.4845T>G (p.Asp1615Glu)
n.246T>G
c.1351T>G
c.5391T>G (p.Asp1797Glu)
c.4572T>G (p.Asp1524Glu)
c.4026T>G (p.Asp1342Glu)
c.5940T>G (p.Asp1980Glu)
c.5667T>G (p.Asp1889Glu)
c.5121T>G (p.Asp1707Glu)
c.4848T>G (p.Asp1616Glu)
c.4299T>G (p.Asp1433Glu)
c.6213T>G (p.Asp2071Glu)
c.5937T>G (p.Asp1979Glu)
9g.115035327A>GCA466790395TNCc.3753T>C (p.Asp1251=)
c.4575T>C (p.Asp1525=)
c.2607T>C (p.Asp869=)
c.1263T>C (p.Asp421=)
c.4622T>C
c.5664T>C (p.Asp1888=)
c.5118T>C (p.Asp1706=)
c.4845T>C (p.Asp1615=)
n.246T>C
c.1351T>C
c.5391T>C (p.Asp1797=)
c.4572T>C (p.Asp1524=)
c.4026T>C (p.Asp1342=)
c.5940T>C (p.Asp1980=)
c.5667T>C (p.Asp1889=)
c.5121T>C (p.Asp1707=)
c.4848T>C (p.Asp1616=)
c.4299T>C (p.Asp1433=)
c.6213T>C (p.Asp2071=)
c.5937T>C (p.Asp1979=)
9g.115035327A>TCA374626634TNCc.3753T>A (p.Asp1251Glu)
c.4575T>A (p.Asp1525Glu)
c.2607T>A (p.Asp869Glu)
c.1263T>A (p.Asp421Glu)
c.4622T>A
c.5664T>A (p.Asp1888Glu)
c.5118T>A (p.Asp1706Glu)
c.4845T>A (p.Asp1615Glu)
n.246T>A
c.1351T>A
c.5391T>A (p.Asp1797Glu)
c.4572T>A (p.Asp1524Glu)
c.4026T>A (p.Asp1342Glu)
c.5940T>A (p.Asp1980Glu)
c.5667T>A (p.Asp1889Glu)
c.5121T>A (p.Asp1707Glu)
c.4848T>A (p.Asp1616Glu)
c.4299T>A (p.Asp1433Glu)
c.6213T>A (p.Asp2071Glu)
c.5937T>A (p.Asp1979Glu)
9g.115035328T>ACA374626635TNCc.3752A>T (p.Asp1251Val)
c.4574A>T (p.Asp1525Val)
c.2606A>T (p.Asp869Val)
c.1262A>T (p.Asp421Val)
c.4621A>T
c.5663A>T (p.Asp1888Val)
c.5117A>T (p.Asp1706Val)
c.4844A>T (p.Asp1615Val)
n.245A>T
c.1350A>T
c.5390A>T (p.Asp1797Val)
c.4571A>T (p.Asp1524Val)
c.4025A>T (p.Asp1342Val)
c.5939A>T (p.Asp1980Val)
c.5666A>T (p.Asp1889Val)
c.5120A>T (p.Asp1707Val)
c.4847A>T (p.Asp1616Val)
c.4298A>T (p.Asp1433Val)
c.6212A>T (p.Asp2071Val)
c.5936A>T (p.Asp1979Val)
9g.115035328T>CCA374626636TNCc.3752A>G (p.Asp1251Gly)
c.4574A>G (p.Asp1525Gly)
c.2606A>G (p.Asp869Gly)
c.1262A>G (p.Asp421Gly)
c.4621A>G
c.5663A>G (p.Asp1888Gly)
c.5117A>G (p.Asp1706Gly)
c.4844A>G (p.Asp1615Gly)
n.245A>G
c.1350A>G
c.5390A>G (p.Asp1797Gly)
c.4571A>G (p.Asp1524Gly)
c.4025A>G (p.Asp1342Gly)
c.5939A>G (p.Asp1980Gly)
c.5666A>G (p.Asp1889Gly)
c.5120A>G (p.Asp1707Gly)
c.4847A>G (p.Asp1616Gly)
c.4298A>G (p.Asp1433Gly)
c.6212A>G (p.Asp2071Gly)
c.5936A>G (p.Asp1979Gly)
 gnomAD v4
9g.115035328T>GCA374626637TNCc.3752A>C (p.Asp1251Ala)
c.4574A>C (p.Asp1525Ala)
c.2606A>C (p.Asp869Ala)
c.1262A>C (p.Asp421Ala)
c.4621A>C
c.5663A>C (p.Asp1888Ala)
c.5117A>C (p.Asp1706Ala)
c.4844A>C (p.Asp1615Ala)
n.245A>C
c.1350A>C
c.5390A>C (p.Asp1797Ala)
c.4571A>C (p.Asp1524Ala)
c.4025A>C (p.Asp1342Ala)
c.5939A>C (p.Asp1980Ala)
c.5666A>C (p.Asp1889Ala)
c.5120A>C (p.Asp1707Ala)
c.4847A>C (p.Asp1616Ala)
c.4298A>C (p.Asp1433Ala)
c.6212A>C (p.Asp2071Ala)
c.5936A>C (p.Asp1979Ala)
9g.115035329C>ACA374626638TNCc.3751G>T (p.Asp1251Tyr)
c.4573G>T (p.Asp1525Tyr)
c.2605G>T (p.Asp869Tyr)
c.1261G>T (p.Asp421Tyr)
c.4620G>T
c.5662G>T (p.Asp1888Tyr)
c.5116G>T (p.Asp1706Tyr)
c.4843G>T (p.Asp1615Tyr)
n.244G>T
c.1349G>T
c.5389G>T (p.Asp1797Tyr)
c.4570G>T (p.Asp1524Tyr)
c.4024G>T (p.Asp1342Tyr)
c.5938G>T (p.Asp1980Tyr)
c.5665G>T (p.Asp1889Tyr)
c.5119G>T (p.Asp1707Tyr)
c.4846G>T (p.Asp1616Tyr)
c.4297G>T (p.Asp1433Tyr)
c.6211G>T (p.Asp2071Tyr)
c.5935G>T (p.Asp1979Tyr)
9g.115035329C=CA1874113777TNCc.3751G= (p.Asp1251=)
c.4573G= (p.Asp1525=)
c.2605G= (p.Asp869=)
c.1261G= (p.Asp421=)
c.4620G=
c.5662G= (p.Asp1888=)
c.5116G= (p.Asp1706=)
c.4843G= (p.Asp1615=)
n.244G=
c.1349G=
c.5389G= (p.Asp1797=)
c.4570G= (p.Asp1524=)
c.4024G= (p.Asp1342=)
c.5938G= (p.Asp1980=)
c.5665G= (p.Asp1889=)
c.5119G= (p.Asp1707=)
c.4846G= (p.Asp1616=)
c.4297G= (p.Asp1433=)
c.6211G= (p.Asp2071=)
c.5935G= (p.Asp1979=)
9g.115035329C>GCA374626639TNCc.3751G>C (p.Asp1251His)
c.4573G>C (p.Asp1525His)
c.2605G>C (p.Asp869His)
c.1261G>C (p.Asp421His)
c.4620G>C
c.5662G>C (p.Asp1888His)
c.5116G>C (p.Asp1706His)
c.4843G>C (p.Asp1615His)
n.244G>C
c.1349G>C
c.5389G>C (p.Asp1797His)
c.4570G>C (p.Asp1524His)
c.4024G>C (p.Asp1342His)
c.5938G>C (p.Asp1980His)
c.5665G>C (p.Asp1889His)
c.5119G>C (p.Asp1707His)
c.4846G>C (p.Asp1616His)
c.4297G>C (p.Asp1433His)
c.6211G>C (p.Asp2071His)
c.5935G>C (p.Asp1979His)
9g.115035329C>TCA5207572TNCc.3751G>A (p.Asp1251Asn)
c.4573G>A (p.Asp1525Asn)
c.2605G>A (p.Asp869Asn)
c.1261G>A (p.Asp421Asn)
c.4620G>A
c.5662G>A (p.Asp1888Asn)
c.5116G>A (p.Asp1706Asn)
c.4843G>A (p.Asp1615Asn)
n.244G>A
c.1349G>A
c.5389G>A (p.Asp1797Asn)
c.4570G>A (p.Asp1524Asn)
c.4024G>A (p.Asp1342Asn)
c.5938G>A (p.Asp1980Asn)
c.5665G>A (p.Asp1889Asn)
c.5119G>A (p.Asp1707Asn)
c.4846G>A (p.Asp1616Asn)
c.4297G>A (p.Asp1433Asn)
c.6211G>A (p.Asp2071Asn)
c.5935G>A (p.Asp1979Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035330G>ACA5207573TNCc.3750C>T (p.Leu1250=)
c.4572C>T (p.Leu1524=)
c.2604C>T (p.Leu868=)
c.1260C>T (p.Leu420=)
c.4619C>T
c.5661C>T (p.Leu1887=)
c.5115C>T (p.Leu1705=)
c.4842C>T (p.Leu1614=)
n.243C>T
c.1348C>T
c.5388C>T (p.Leu1796=)
c.4569C>T (p.Leu1523=)
c.4023C>T (p.Leu1341=)
c.5937C>T (p.Leu1979=)
c.5664C>T (p.Leu1888=)
c.5118C>T (p.Leu1706=)
c.4845C>T (p.Leu1615=)
c.4296C>T (p.Leu1432=)
c.6210C>T (p.Leu2070=)
c.5934C>T (p.Leu1978=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115035330G>CCA466790396TNCc.3750C>G (p.Leu1250=)
c.4572C>G (p.Leu1524=)
c.2604C>G (p.Leu868=)
c.1260C>G (p.Leu420=)
c.4619C>G
c.5661C>G (p.Leu1887=)
c.5115C>G (p.Leu1705=)
c.4842C>G (p.Leu1614=)
n.243C>G
c.1348C>G
c.5388C>G (p.Leu1796=)
c.4569C>G (p.Leu1523=)
c.4023C>G (p.Leu1341=)
c.5937C>G (p.Leu1979=)
c.5664C>G (p.Leu1888=)
c.5118C>G (p.Leu1706=)
c.4845C>G (p.Leu1615=)
c.4296C>G (p.Leu1432=)
c.6210C>G (p.Leu2070=)
c.5934C>G (p.Leu1978=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115035330G=CA1874113778TNCc.3750C= (p.Leu1250=)
c.4572C= (p.Leu1524=)
c.2604C= (p.Leu868=)
c.1260C= (p.Leu420=)
c.4619C=
c.5661C= (p.Leu1887=)
c.5115C= (p.Leu1705=)
c.4842C= (p.Leu1614=)
n.243C=
c.1348C=
c.5388C= (p.Leu1796=)
c.4569C= (p.Leu1523=)
c.4023C= (p.Leu1341=)
c.5937C= (p.Leu1979=)
c.5664C= (p.Leu1888=)
c.5118C= (p.Leu1706=)
c.4845C= (p.Leu1615=)
c.4296C= (p.Leu1432=)
c.6210C= (p.Leu2070=)
c.5934C= (p.Leu1978=)
9g.115035330G>TCA466790397TNCc.3750C>A (p.Leu1250=)
c.4572C>A (p.Leu1524=)
c.2604C>A (p.Leu868=)
c.1260C>A (p.Leu420=)
c.4619C>A
c.5661C>A (p.Leu1887=)
c.5115C>A (p.Leu1705=)
c.4842C>A (p.Leu1614=)
n.243C>A
c.1348C>A
c.5388C>A (p.Leu1796=)
c.4569C>A (p.Leu1523=)
c.4023C>A (p.Leu1341=)
c.5937C>A (p.Leu1979=)
c.5664C>A (p.Leu1888=)
c.5118C>A (p.Leu1706=)
c.4845C>A (p.Leu1615=)
c.4296C>A (p.Leu1432=)
c.6210C>A (p.Leu2070=)
c.5934C>A (p.Leu1978=)
9g.115035331A>CCA374626641TNCc.3749T>G (p.Leu1250Arg)
c.4571T>G (p.Leu1524Arg)
c.2603T>G (p.Leu868Arg)
c.1259T>G (p.Leu420Arg)
c.4618T>G
c.5660T>G (p.Leu1887Arg)
c.5114T>G (p.Leu1705Arg)
c.4841T>G (p.Leu1614Arg)
n.242T>G
c.1347T>G
c.5387T>G (p.Leu1796Arg)
c.4568T>G (p.Leu1523Arg)
c.4022T>G (p.Leu1341Arg)
c.5936T>G (p.Leu1979Arg)
c.5663T>G (p.Leu1888Arg)
c.5117T>G (p.Leu1706Arg)
c.4844T>G (p.Leu1615Arg)
c.4295T>G (p.Leu1432Arg)
c.6209T>G (p.Leu2070Arg)
c.5933T>G (p.Leu1978Arg)
9g.115035331A>GCA374626642TNCc.3749T>C (p.Leu1250Pro)
c.4571T>C (p.Leu1524Pro)
c.2603T>C (p.Leu868Pro)
c.1259T>C (p.Leu420Pro)
c.4618T>C
c.5660T>C (p.Leu1887Pro)
c.5114T>C (p.Leu1705Pro)
c.4841T>C (p.Leu1614Pro)
n.242T>C
c.1347T>C
c.5387T>C (p.Leu1796Pro)
c.4568T>C (p.Leu1523Pro)
c.4022T>C (p.Leu1341Pro)
c.5936T>C (p.Leu1979Pro)
c.5663T>C (p.Leu1888Pro)
c.5117T>C (p.Leu1706Pro)
c.4844T>C (p.Leu1615Pro)
c.4295T>C (p.Leu1432Pro)
c.6209T>C (p.Leu2070Pro)
c.5933T>C (p.Leu1978Pro)
 gnomAD v4
9g.115035331A>TCA374626640TNCc.3749T>A (p.Leu1250His)
c.4571T>A (p.Leu1524His)
c.2603T>A (p.Leu868His)
c.1259T>A (p.Leu420His)
c.4618T>A
c.5660T>A (p.Leu1887His)
c.5114T>A (p.Leu1705His)
c.4841T>A (p.Leu1614His)
n.242T>A
c.1347T>A
c.5387T>A (p.Leu1796His)
c.4568T>A (p.Leu1523His)
c.4022T>A (p.Leu1341His)
c.5936T>A (p.Leu1979His)
c.5663T>A (p.Leu1888His)
c.5117T>A (p.Leu1706His)
c.4844T>A (p.Leu1615His)
c.4295T>A (p.Leu1432His)
c.6209T>A (p.Leu2070His)
c.5933T>A (p.Leu1978His)
9g.115035332G>ACA374626644TNCc.3748C>T (p.Leu1250Phe)
c.4570C>T (p.Leu1524Phe)
c.2602C>T (p.Leu868Phe)
c.1258C>T (p.Leu420Phe)
c.4617C>T
c.5659C>T (p.Leu1887Phe)
c.5113C>T (p.Leu1705Phe)
c.4840C>T (p.Leu1614Phe)
n.241C>T
c.1346C>T
c.5386C>T (p.Leu1796Phe)
c.4567C>T (p.Leu1523Phe)
c.4021C>T (p.Leu1341Phe)
c.5935C>T (p.Leu1979Phe)
c.5662C>T (p.Leu1888Phe)
c.5116C>T (p.Leu1706Phe)
c.4843C>T (p.Leu1615Phe)
c.4294C>T (p.Leu1432Phe)
c.6208C>T (p.Leu2070Phe)
c.5932C>T (p.Leu1978Phe)
 gnomAD v4
9g.115035332G>CCA374626643TNCc.3748C>G (p.Leu1250Val)
c.4570C>G (p.Leu1524Val)
c.2602C>G (p.Leu868Val)
c.1258C>G (p.Leu420Val)
c.4617C>G
c.5659C>G (p.Leu1887Val)
c.5113C>G (p.Leu1705Val)
c.4840C>G (p.Leu1614Val)
n.241C>G
c.1346C>G
c.5386C>G (p.Leu1796Val)
c.4567C>G (p.Leu1523Val)
c.4021C>G (p.Leu1341Val)
c.5935C>G (p.Leu1979Val)
c.5662C>G (p.Leu1888Val)
c.5116C>G (p.Leu1706Val)
c.4843C>G (p.Leu1615Val)
c.4294C>G (p.Leu1432Val)
c.6208C>G (p.Leu2070Val)
c.5932C>G (p.Leu1978Val)
9g.115035332G>TCA374626645TNCc.3748C>A (p.Leu1250Ile)
c.4570C>A (p.Leu1524Ile)
c.2602C>A (p.Leu868Ile)
c.1258C>A (p.Leu420Ile)
c.4617C>A
c.5659C>A (p.Leu1887Ile)
c.5113C>A (p.Leu1705Ile)
c.4840C>A (p.Leu1614Ile)
n.241C>A
c.1346C>A
c.5386C>A (p.Leu1796Ile)
c.4567C>A (p.Leu1523Ile)
c.4021C>A (p.Leu1341Ile)
c.5935C>A (p.Leu1979Ile)
c.5662C>A (p.Leu1888Ile)
c.5116C>A (p.Leu1706Ile)
c.4843C>A (p.Leu1615Ile)
c.4294C>A (p.Leu1432Ile)
c.6208C>A (p.Leu2070Ile)
c.5932C>A (p.Leu1978Ile)

Number of alleles fetched