Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36246344G>ACA464619989CLTA,GNEc.396C>T (p.Arg132=)
c.126C>T (p.Arg42=)
c.303C>T (p.Arg101=)
c.486-16854G>A (n.486-16854G>A)
c.288C>T (p.Arg96=)
9g.36246344G>CCA464619991CLTA,GNEc.396C>G (p.Arg132=)
c.126C>G (p.Arg42=)
c.303C>G (p.Arg101=)
c.486-16854G>C (n.486-16854G>C)
c.288C>G (p.Arg96=)
 ClinVar gnomAD v4
9g.36246344G>TCA464619992CLTA,GNEc.396C>A (p.Arg132=)
c.126C>A (p.Arg42=)
c.303C>A (p.Arg101=)
c.486-16854G>T (n.486-16854G>T)
c.288C>A (p.Arg96=)
9g.36246345delCA2689947827CLTA,GNEc.395del (p.Arg132ProfsTer2)
c.125del (p.Arg42ProfsTer2)
c.302del (p.Arg101ProfsTer2)
c.486-16853del (n.486-16853del)
c.287del (p.Arg96ProfsTer2)
 gnomAD v4
9g.36246345C>ACA373419712CLTA,GNEc.395G>T (p.Arg132Leu)
c.125G>T (p.Arg42Leu)
c.302G>T (p.Arg101Leu)
c.486-16853C>A (n.486-16853C>A)
c.287G>T (p.Arg96Leu)
 gnomAD v4
9g.36246345C=CA1846320990CLTA,GNEc.395G= (p.Arg132=)
c.125G= (p.Arg42=)
c.302G= (p.Arg101=)
c.486-16853C= (n.486-16853C=)
c.287G= (p.Arg96=)
9g.36246345C>GCA373419713CLTA,GNEc.395G>C (p.Arg132Pro)
c.125G>C (p.Arg42Pro)
c.302G>C (p.Arg101Pro)
c.486-16853C>G (n.486-16853C>G)
c.287G>C (p.Arg96Pro)
 ClinVar
9g.36246345C>TCA5056738CLTA,GNEc.395G>A (p.Arg132His)
c.125G>A (p.Arg42His)
c.302G>A (p.Arg101His)
c.486-16853C>T (n.486-16853C>T)
c.287G>A (p.Arg96His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246346G>ACA5056739CLTA,GNEc.394C>T (p.Arg132Cys)
c.124C>T (p.Arg42Cys)
c.301C>T (p.Arg101Cys)
c.486-16852G>A (n.486-16852G>A)
c.286C>T (p.Arg96Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246346G>CCA373419714CLTA,GNEc.394C>G (p.Arg132Gly)
c.124C>G (p.Arg42Gly)
c.301C>G (p.Arg101Gly)
c.486-16852G>C (n.486-16852G>C)
c.286C>G (p.Arg96Gly)
9g.36246346G=CA1846320995CLTA,GNEc.394C= (p.Arg132=)
c.124C= (p.Arg42=)
c.301C= (p.Arg101=)
c.486-16852G= (n.486-16852G=)
c.286C= (p.Arg96=)
9g.36246346G>TCA373419715CLTA,GNEc.394C>A (p.Arg132Ser)
c.124C>A (p.Arg42Ser)
c.301C>A (p.Arg101Ser)
c.486-16852G>T (n.486-16852G>T)
c.286C>A (p.Arg96Ser)
9g.36246347A>CCA373419716CLTA,GNEc.393T>G (p.Asn131Lys)
c.123T>G (p.Asn41Lys)
c.300T>G (p.Asn100Lys)
c.486-16851A>C (n.486-16851A>C)
c.285T>G (p.Asn95Lys)
9g.36246347A>GCA464620001CLTA,GNEc.393T>C (p.Asn131=)
c.123T>C (p.Asn41=)
c.300T>C (p.Asn100=)
c.486-16851A>G (n.486-16851A>G)
c.285T>C (p.Asn95=)
9g.36246347A>TCA373419717CLTA,GNEc.393T>A (p.Asn131Lys)
c.123T>A (p.Asn41Lys)
c.300T>A (p.Asn100Lys)
c.486-16851A>T (n.486-16851A>T)
c.285T>A (p.Asn95Lys)
9g.36246348T>ACA373419720CLTA,GNEc.392A>T (p.Asn131Ile)
c.122A>T (p.Asn41Ile)
c.299A>T (p.Asn100Ile)
c.486-16850T>A (n.486-16850T>A)
c.284A>T (p.Asn95Ile)
9g.36246348T>CCA373419718CLTA,GNEc.392A>G (p.Asn131Ser)
c.122A>G (p.Asn41Ser)
c.299A>G (p.Asn100Ser)
c.486-16850T>C (n.486-16850T>C)
c.284A>G (p.Asn95Ser)
9g.36246348T>GCA373419719CLTA,GNEc.392A>C (p.Asn131Thr)
c.122A>C (p.Asn41Thr)
c.299A>C (p.Asn100Thr)
c.486-16850T>G (n.486-16850T>G)
c.284A>C (p.Asn95Thr)
9g.36246349T>ACA373419721CLTA,GNEc.391A>T (p.Asn131Tyr)
c.121A>T (p.Asn41Tyr)
c.298A>T (p.Asn100Tyr)
c.486-16849T>A (n.486-16849T>A)
c.283A>T (p.Asn95Tyr)
9g.36246349T>CCA373419722CLTA,GNEc.391A>G (p.Asn131Asp)
c.121A>G (p.Asn41Asp)
c.298A>G (p.Asn100Asp)
c.486-16849T>C (n.486-16849T>C)
c.283A>G (p.Asn95Asp)
9g.36246349T>GCA373419723CLTA,GNEc.391A>C (p.Asn131His)
c.121A>C (p.Asn41His)
c.298A>C (p.Asn100His)
c.486-16849T>G (n.486-16849T>G)
c.283A>C (p.Asn95His)
9g.36246350A=CA1846321000CLTA,GNEc.390T= (p.Leu130=)
c.120T= (p.Leu40=)
c.297T= (p.Leu99=)
c.486-16848A= (n.486-16848A=)
c.282T= (p.Leu94=)
9g.36246350A>CCA10606154CLTA,GNEc.390T>G (p.Leu130=)
c.120T>G (p.Leu40=)
c.297T>G (p.Leu99=)
c.486-16848A>C (n.486-16848A>C)
c.282T>G (p.Leu94=)
 ClinVar dbSNP
9g.36246350A>GCA5056740CLTA,GNEc.390T>C (p.Leu130=)
c.120T>C (p.Leu40=)
c.297T>C (p.Leu99=)
c.486-16848A>G (n.486-16848A>G)
c.282T>C (p.Leu94=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246350A>TCA464620011CLTA,GNEc.390T>A (p.Leu130=)
c.120T>A (p.Leu40=)
c.297T>A (p.Leu99=)
c.486-16848A>T (n.486-16848A>T)
c.282T>A (p.Leu94=)
9g.36246351A=CA1846321010CLTA,GNEc.389T= (p.Leu130=)
c.119T= (p.Leu40=)
c.296T= (p.Leu99=)
c.486-16847A= (n.486-16847A=)
c.281T= (p.Leu94=)
9g.36246351A>CCA373419724CLTA,GNEc.389T>G (p.Leu130Arg)
c.119T>G (p.Leu40Arg)
c.296T>G (p.Leu99Arg)
c.486-16847A>C (n.486-16847A>C)
c.281T>G (p.Leu94Arg)
9g.36246351A>GCA373419726CLTA,GNEc.389T>C (p.Leu130Pro)
c.119T>C (p.Leu40Pro)
c.296T>C (p.Leu99Pro)
c.486-16847A>G (n.486-16847A>G)
c.281T>C (p.Leu94Pro)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246351A>TCA373419725CLTA,GNEc.389T>A (p.Leu130His)
c.119T>A (p.Leu40His)
c.296T>A (p.Leu99His)
c.486-16847A>T (n.486-16847A>T)
c.281T>A (p.Leu94His)
9g.36246352G>ACA373419727CLTA,GNEc.388C>T (p.Leu130Phe)
c.118C>T (p.Leu40Phe)
c.295C>T (p.Leu99Phe)
c.486-16846G>A (n.486-16846G>A)
c.280C>T (p.Leu94Phe)
9g.36246352G>CCA373419729CLTA,GNEc.388C>G (p.Leu130Val)
c.118C>G (p.Leu40Val)
c.295C>G (p.Leu99Val)
c.486-16846G>C (n.486-16846G>C)
c.280C>G (p.Leu94Val)
 dbSNP gnomAD v3 gnomAD v4
9g.36246352G=CA1846321016CLTA,GNEc.388C= (p.Leu130=)
c.118C= (p.Leu40=)
c.295C= (p.Leu99=)
c.486-16846G= (n.486-16846G=)
c.280C= (p.Leu94=)
9g.36246352G>TCA373419730CLTA,GNEc.388C>A (p.Leu130Ile)
c.118C>A (p.Leu40Ile)
c.295C>A (p.Leu99Ile)
c.486-16846G>T (n.486-16846G>T)
c.280C>A (p.Leu94Ile)
9g.36246353G>ACA464620018CLTA,GNEc.387C>T (p.Val129=)
c.117C>T (p.Val39=)
c.294C>T (p.Val98=)
c.486-16845G>A (n.486-16845G>A)
c.279C>T (p.Val93=)
 dbSNP gnomAD v4
9g.36246353G>CCA464620019CLTA,GNEc.387C>G (p.Val129=)
c.117C>G (p.Val39=)
c.294C>G (p.Val98=)
c.486-16845G>C (n.486-16845G>C)
c.279C>G (p.Val93=)
9g.36246353G=CA1846321021CLTA,GNEc.387C= (p.Val129=)
c.117C= (p.Val39=)
c.294C= (p.Val98=)
c.486-16845G= (n.486-16845G=)
c.279C= (p.Val93=)
9g.36246353G>TCA464620020CLTA,GNEc.387C>A (p.Val129=)
c.117C>A (p.Val39=)
c.294C>A (p.Val98=)
c.486-16845G>T (n.486-16845G>T)
c.279C>A (p.Val93=)
9g.36246354A>CCA373419731CLTA,GNEc.386T>G (p.Val129Gly)
c.116T>G (p.Val39Gly)
c.293T>G (p.Val98Gly)
c.486-16844A>C (n.486-16844A>C)
c.278T>G (p.Val93Gly)
9g.36246354A>GCA373419732CLTA,GNEc.386T>C (p.Val129Ala)
c.116T>C (p.Val39Ala)
c.293T>C (p.Val98Ala)
c.486-16844A>G (n.486-16844A>G)
c.278T>C (p.Val93Ala)
9g.36246354A>TCA373419733CLTA,GNEc.386T>A (p.Val129Asp)
c.116T>A (p.Val39Asp)
c.293T>A (p.Val98Asp)
c.486-16844A>T (n.486-16844A>T)
c.278T>A (p.Val93Asp)
9g.36246355C>ACA373419734CLTA,GNEc.385G>T (p.Val129Phe)
c.115G>T (p.Val39Phe)
c.292G>T (p.Val98Phe)
c.486-16843C>A (n.486-16843C>A)
c.277G>T (p.Val93Phe)
9g.36246355C>GCA373419735CLTA,GNEc.385G>C (p.Val129Leu)
c.115G>C (p.Val39Leu)
c.292G>C (p.Val98Leu)
c.486-16843C>G (n.486-16843C>G)
c.277G>C (p.Val93Leu)
9g.36246355C>TCA373419736CLTA,GNEc.385G>A (p.Val129Ile)
c.115G>A (p.Val39Ile)
c.292G>A (p.Val98Ile)
c.486-16843C>T (n.486-16843C>T)
c.277G>A (p.Val93Ile)
9g.36246356A=CA1846321026CLTA,GNEc.384T= (p.Asp128=)
c.114T= (p.Asp38=)
c.291T= (p.Asp97=)
c.486-16842A= (n.486-16842A=)
c.276T= (p.Asp92=)
9g.36246356A>CCA373419737CLTA,GNEc.384T>G (p.Asp128Glu)
c.114T>G (p.Asp38Glu)
c.291T>G (p.Asp97Glu)
c.486-16842A>C (n.486-16842A>C)
c.276T>G (p.Asp92Glu)
9g.36246356A>GCA464620030CLTA,GNEc.384T>C (p.Asp128=)
c.114T>C (p.Asp38=)
c.291T>C (p.Asp97=)
c.486-16842A>G (n.486-16842A>G)
c.276T>C (p.Asp92=)
 dbSNP
9g.36246356A>TCA373419738CLTA,GNEc.384T>A (p.Asp128Glu)
c.114T>A (p.Asp38Glu)
c.291T>A (p.Asp97Glu)
c.486-16842A>T (n.486-16842A>T)
c.276T>A (p.Asp92Glu)
9g.36246357T>ACA373419741CLTA,GNEc.383A>T (p.Asp128Val)
c.113A>T (p.Asp38Val)
c.290A>T (p.Asp97Val)
c.486-16841T>A (n.486-16841T>A)
c.275A>T (p.Asp92Val)
9g.36246357T>CCA373419740CLTA,GNEc.383A>G (p.Asp128Gly)
c.113A>G (p.Asp38Gly)
c.290A>G (p.Asp97Gly)
c.486-16841T>C (n.486-16841T>C)
c.275A>G (p.Asp92Gly)
9g.36246357T>GCA373419739CLTA,GNEc.383A>C (p.Asp128Ala)
c.113A>C (p.Asp38Ala)
c.290A>C (p.Asp97Ala)
c.486-16841T>G (n.486-16841T>G)
c.275A>C (p.Asp92Ala)
9g.36246358C>ACA373419742CLTA,GNEc.382G>T (p.Asp128Tyr)
c.112G>T (p.Asp38Tyr)
c.289G>T (p.Asp97Tyr)
c.486-16840C>A (n.486-16840C>A)
c.274G>T (p.Asp92Tyr)
9g.36246358C>GCA373419744CLTA,GNEc.382G>C (p.Asp128His)
c.112G>C (p.Asp38His)
c.289G>C (p.Asp97His)
c.486-16840C>G (n.486-16840C>G)
c.274G>C (p.Asp92His)
9g.36246358C>TCA373419743CLTA,GNEc.382G>A (p.Asp128Asn)
c.112G>A (p.Asp38Asn)
c.289G>A (p.Asp97Asn)
c.486-16840C>T (n.486-16840C>T)
c.274G>A (p.Asp92Asn)
 gnomAD v4
9g.36246359T>ACA464620036CLTA,GNEc.381A>T (p.Pro127=)
c.111A>T (p.Pro37=)
c.288A>T (p.Pro96=)
c.486-16839T>A (n.486-16839T>A)
c.273A>T (p.Pro91=)
9g.36246359T>CCA464620037CLTA,GNEc.381A>G (p.Pro127=)
c.111A>G (p.Pro37=)
c.288A>G (p.Pro96=)
c.486-16839T>C (n.486-16839T>C)
c.273A>G (p.Pro91=)
 dbSNP
9g.36246359T>GCA464620038CLTA,GNEc.381A>C (p.Pro127=)
c.111A>C (p.Pro37=)
c.288A>C (p.Pro96=)
c.486-16839T>G (n.486-16839T>G)
c.273A>C (p.Pro91=)
9g.36246359T=CA1846321034CLTA,GNEc.381A= (p.Pro127=)
c.111A= (p.Pro37=)
c.288A= (p.Pro96=)
c.486-16839T= (n.486-16839T=)
c.273A= (p.Pro91=)
9g.36246359_36246360delinsTGCA1846321031CLTA,GNEc.380_381delinsCA (p.Pro127=)
c.110_111delinsCA (p.Pro37=)
c.287_288delinsCA (p.Pro96=)
c.486-16839_486-16838delinsTG (n.486-16839_486-16838delinsTG)
c.272_273delinsCA (p.Pro91=)
9g.36246360G>ACA373419745CLTA,GNEc.380C>T (p.Pro127Leu)
c.110C>T (p.Pro37Leu)
c.287C>T (p.Pro96Leu)
c.486-16838G>A (n.486-16838G>A)
c.272C>T (p.Pro91Leu)
9g.36246360G>CCA373419747CLTA,GNEc.380C>G (p.Pro127Arg)
c.110C>G (p.Pro37Arg)
c.287C>G (p.Pro96Arg)
c.486-16838G>C (n.486-16838G>C)
c.272C>G (p.Pro91Arg)
9g.36246360G>TCA373419746CLTA,GNEc.380C>A (p.Pro127Gln)
c.110C>A (p.Pro37Gln)
c.287C>A (p.Pro96Gln)
c.486-16838G>T (n.486-16838G>T)
c.272C>A (p.Pro91Gln)
9g.36246361delCA863602855CLTA,GNEc.380del (p.Pro127GlnfsTer7)
c.110del (p.Pro37GlnfsTer7)
c.287del (p.Pro96GlnfsTer7)
c.486-16837del (n.486-16837del)
c.272del (p.Pro91GlnfsTer7)
 dbSNP
9g.36246361G>ACA373419748CLTA,GNEc.379C>T (p.Pro127Ser)
c.109C>T (p.Pro37Ser)
c.286C>T (p.Pro96Ser)
c.486-16837G>A (n.486-16837G>A)
c.271C>T (p.Pro91Ser)
9g.36246361G>CCA373419749CLTA,GNEc.379C>G (p.Pro127Ala)
c.109C>G (p.Pro37Ala)
c.286C>G (p.Pro96Ala)
c.486-16837G>C (n.486-16837G>C)
c.271C>G (p.Pro91Ala)
9g.36246361G>TCA373419750CLTA,GNEc.379C>A (p.Pro127Thr)
c.109C>A (p.Pro37Thr)
c.286C>A (p.Pro96Thr)
c.486-16837G>T (n.486-16837G>T)
c.271C>A (p.Pro91Thr)
9g.36246362C>ACA464620047CLTA,GNEc.378G>T (p.Leu126=)
c.108G>T (p.Leu36=)
c.285G>T (p.Leu95=)
c.486-16836C>A (n.486-16836C>A)
c.270G>T (p.Leu90=)
9g.36246362C=CA1846321042CLTA,GNEc.378G= (p.Leu126=)
c.108G= (p.Leu36=)
c.285G= (p.Leu95=)
c.486-16836C= (n.486-16836C=)
c.270G= (p.Leu90=)
9g.36246362C>GCA464620049CLTA,GNEc.378G>C (p.Leu126=)
c.108G>C (p.Leu36=)
c.285G>C (p.Leu95=)
c.486-16836C>G (n.486-16836C>G)
c.270G>C (p.Leu90=)
9g.36246362C>TCA464620050CLTA,GNEc.378G>A (p.Leu126=)
c.108G>A (p.Leu36=)
c.285G>A (p.Leu95=)
c.486-16836C>T (n.486-16836C>T)
c.270G>A (p.Leu90=)
 dbSNP gnomAD v3 gnomAD v4
9g.36246363A>CCA373419751CLTA,GNEc.377T>G (p.Leu126Arg)
c.107T>G (p.Leu36Arg)
c.284T>G (p.Leu95Arg)
c.486-16835A>C (n.486-16835A>C)
c.269T>G (p.Leu90Arg)
9g.36246363A>GCA373419752CLTA,GNEc.377T>C (p.Leu126Pro)
c.107T>C (p.Leu36Pro)
c.284T>C (p.Leu95Pro)
c.486-16835A>G (n.486-16835A>G)
c.269T>C (p.Leu90Pro)
 gnomAD v4
9g.36246363A>TCA373419753CLTA,GNEc.377T>A (p.Leu126Gln)
c.107T>A (p.Leu36Gln)
c.284T>A (p.Leu95Gln)
c.486-16835A>T (n.486-16835A>T)
c.269T>A (p.Leu90Gln)
9g.36246364G>ACA464620055CLTA,GNEc.376C>T (p.Leu126=)
c.106C>T (p.Leu36=)
c.283C>T (p.Leu95=)
c.486-16834G>A (n.486-16834G>A)
c.268C>T (p.Leu90=)
9g.36246364G>CCA373419754CLTA,GNEc.376C>G (p.Leu126Val)
c.106C>G (p.Leu36Val)
c.283C>G (p.Leu95Val)
c.486-16834G>C (n.486-16834G>C)
c.268C>G (p.Leu90Val)
9g.36246364G=CA1846321044CLTA,GNEc.376C= (p.Leu126=)
c.106C= (p.Leu36=)
c.283C= (p.Leu95=)
c.486-16834G= (n.486-16834G=)
c.268C= (p.Leu90=)
9g.36246364G>TCA5056741CLTA,GNEc.376C>A (p.Leu126Met)
c.106C>A (p.Leu36Met)
c.283C>A (p.Leu95Met)
c.486-16834G>T (n.486-16834G>T)
c.268C>A (p.Leu90Met)
 dbSNP ExAC gnomAD v2
9g.36246365C>ACA373419755CLTA,GNEc.375G>T (p.Lys125Asn)
c.105G>T (p.Lys35Asn)
c.282G>T (p.Lys94Asn)
c.486-16833C>A (n.486-16833C>A)
c.267G>T (p.Lys89Asn)
9g.36246365C>GCA373419756CLTA,GNEc.375G>C (p.Lys125Asn)
c.105G>C (p.Lys35Asn)
c.282G>C (p.Lys94Asn)
c.486-16833C>G (n.486-16833C>G)
c.267G>C (p.Lys89Asn)
9g.36246365C>TCA464620058CLTA,GNEc.375G>A (p.Lys125=)
c.105G>A (p.Lys35=)
c.282G>A (p.Lys94=)
c.486-16833C>T (n.486-16833C>T)
c.267G>A (p.Lys89=)
9g.36246366T>ACA373419759CLTA,GNEc.374A>T (p.Lys125Met)
c.104A>T (p.Lys35Met)
c.281A>T (p.Lys94Met)
c.486-16832T>A (n.486-16832T>A)
c.266A>T (p.Lys89Met)
9g.36246366T>CCA373419757CLTA,GNEc.374A>G (p.Lys125Arg)
c.104A>G (p.Lys35Arg)
c.281A>G (p.Lys94Arg)
c.486-16832T>C (n.486-16832T>C)
c.266A>G (p.Lys89Arg)
9g.36246366T>GCA373419758CLTA,GNEc.374A>C (p.Lys125Thr)
c.104A>C (p.Lys35Thr)
c.281A>C (p.Lys94Thr)
c.486-16832T>G (n.486-16832T>G)
c.266A>C (p.Lys89Thr)
9g.36246367T>ACA373419760CLTA,GNEc.373A>T (p.Lys125Ter)
c.103A>T (p.Lys35Ter)
c.280A>T (p.Lys94Ter)
c.486-16831T>A (n.486-16831T>A)
c.265A>T (p.Lys89Ter)
9g.36246367T>CCA373419761CLTA,GNEc.373A>G (p.Lys125Glu)
c.103A>G (p.Lys35Glu)
c.280A>G (p.Lys94Glu)
c.486-16831T>C (n.486-16831T>C)
c.265A>G (p.Lys89Glu)
9g.36246367T>GCA373419762CLTA,GNEc.373A>C (p.Lys125Gln)
c.103A>C (p.Lys35Gln)
c.280A>C (p.Lys94Gln)
c.486-16831T>G (n.486-16831T>G)
c.265A>C (p.Lys89Gln)
9g.36246368C>ACA464620063CLTA,GNEc.372G>T (p.Val124=)
c.102G>T (p.Val34=)
c.279G>T (p.Val93=)
c.486-16830C>A (n.486-16830C>A)
c.264G>T (p.Val88=)
9g.36246368C>GCA464620064CLTA,GNEc.372G>C (p.Val124=)
c.102G>C (p.Val34=)
c.279G>C (p.Val93=)
c.486-16830C>G (n.486-16830C>G)
c.264G>C (p.Val88=)
9g.36246368C>TCA464620066CLTA,GNEc.372G>A (p.Val124=)
c.102G>A (p.Val34=)
c.279G>A (p.Val93=)
c.486-16830C>T (n.486-16830C>T)
c.264G>A (p.Val88=)
9g.36246369A>CCA373419763CLTA,GNEc.371T>G (p.Val124Gly)
c.101T>G (p.Val34Gly)
c.278T>G (p.Val93Gly)
c.486-16829A>C (n.486-16829A>C)
c.263T>G (p.Val88Gly)
9g.36246369A>GCA373419764CLTA,GNEc.371T>C (p.Val124Ala)
c.101T>C (p.Val34Ala)
c.278T>C (p.Val93Ala)
c.486-16829A>G (n.486-16829A>G)
c.263T>C (p.Val88Ala)
9g.36246369A>TCA373419765CLTA,GNEc.371T>A (p.Val124Glu)
c.101T>A (p.Val34Glu)
c.278T>A (p.Val93Glu)
c.486-16829A>T (n.486-16829A>T)
c.263T>A (p.Val88Glu)
9g.36246370C>ACA373419766CLTA,GNEc.370G>T (p.Val124Leu)
c.100G>T (p.Val34Leu)
c.277G>T (p.Val93Leu)
c.486-16828C>A (n.486-16828C>A)
c.262G>T (p.Val88Leu)
9g.36246370C>GCA373419767CLTA,GNEc.370G>C (p.Val124Leu)
c.100G>C (p.Val34Leu)
c.277G>C (p.Val93Leu)
c.486-16828C>G (n.486-16828C>G)
c.262G>C (p.Val88Leu)
9g.36246370C>TCA373419768CLTA,GNEc.370G>A (p.Val124Met)
c.100G>A (p.Val34Met)
c.277G>A (p.Val93Met)
c.486-16828C>T (n.486-16828C>T)
c.262G>A (p.Val88Met)
 gnomAD v4
9g.36246371T>ACA464620068CLTA,GNEc.369A>T (p.Leu123=)
c.99A>T (p.Leu33=)
c.276A>T (p.Leu92=)
c.486-16827T>A (n.486-16827T>A)
c.261A>T (p.Leu87=)
 gnomAD v3 gnomAD v4
9g.36246371T>CCA464620071CLTA,GNEc.369A>G (p.Leu123=)
c.99A>G (p.Leu33=)
c.276A>G (p.Leu92=)
c.486-16827T>C (n.486-16827T>C)
c.261A>G (p.Leu87=)
 gnomAD v4
9g.36246371T>GCA5056742CLTA,GNEc.369A>C (p.Leu123=)
c.99A>C (p.Leu33=)
c.276A>C (p.Leu92=)
c.486-16827T>G (n.486-16827T>G)
c.261A>C (p.Leu87=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246371T=CA1846321047CLTA,GNEc.369A= (p.Leu123=)
c.99A= (p.Leu33=)
c.276A= (p.Leu92=)
c.486-16827T= (n.486-16827T=)
c.261A= (p.Leu87=)
9g.36246372A>CCA373419770CLTA,GNEc.368T>G (p.Leu123Arg)
c.98T>G (p.Leu33Arg)
c.275T>G (p.Leu92Arg)
c.486-16826A>C (n.486-16826A>C)
c.260T>G (p.Leu87Arg)
9g.36246372A>GCA373419771CLTA,GNEc.368T>C (p.Leu123Pro)
c.98T>C (p.Leu33Pro)
c.275T>C (p.Leu92Pro)
c.486-16826A>G (n.486-16826A>G)
c.260T>C (p.Leu87Pro)
 gnomAD v4
9g.36246372A>TCA373419769CLTA,GNEc.368T>A (p.Leu123Gln)
c.98T>A (p.Leu33Gln)
c.275T>A (p.Leu92Gln)
c.486-16826A>T (n.486-16826A>T)
c.260T>A (p.Leu87Gln)
9g.36246373G>ACA464620075CLTA,GNEc.367C>T (p.Leu123=)
c.97C>T (p.Leu33=)
c.274C>T (p.Leu92=)
c.486-16825G>A (n.486-16825G>A)
c.259C>T (p.Leu87=)
9g.36246373G>CCA373419772CLTA,GNEc.367C>G (p.Leu123Val)
c.97C>G (p.Leu33Val)
c.274C>G (p.Leu92Val)
c.486-16825G>C (n.486-16825G>C)
c.259C>G (p.Leu87Val)
9g.36246373G>TCA373419773CLTA,GNEc.367C>A (p.Leu123Ile)
c.97C>A (p.Leu33Ile)
c.274C>A (p.Leu92Ile)
c.486-16825G>T (n.486-16825G>T)
c.259C>A (p.Leu87Ile)
 ClinVar
9g.36246374G>ACA464620076CLTA,GNEc.366C>T (p.Ala122=)
c.96C>T (p.Ala32=)
c.273C>T (p.Ala91=)
c.486-16824G>A (n.486-16824G>A)
c.258C>T (p.Ala86=)
 gnomAD v4
9g.36246374G>CCA464620077CLTA,GNEc.366C>G (p.Ala122=)
c.96C>G (p.Ala32=)
c.273C>G (p.Ala91=)
c.486-16824G>C (n.486-16824G>C)
c.258C>G (p.Ala86=)
9g.36246374G>TCA464620078CLTA,GNEc.366C>A (p.Ala122=)
c.96C>A (p.Ala32=)
c.273C>A (p.Ala91=)
c.486-16824G>T (n.486-16824G>T)
c.258C>A (p.Ala86=)
9g.36246375G>ACA373419774CLTA,GNEc.365C>T (p.Ala122Val)
c.95C>T (p.Ala32Val)
c.272C>T (p.Ala91Val)
c.486-16823G>A (n.486-16823G>A)
c.257C>T (p.Ala86Val)
9g.36246375G>CCA373419775CLTA,GNEc.365C>G (p.Ala122Gly)
c.95C>G (p.Ala32Gly)
c.272C>G (p.Ala91Gly)
c.486-16823G>C (n.486-16823G>C)
c.257C>G (p.Ala86Gly)
9g.36246375G>TCA373419776CLTA,GNEc.365C>A (p.Ala122Asp)
c.95C>A (p.Ala32Asp)
c.272C>A (p.Ala91Asp)
c.486-16823G>T (n.486-16823G>T)
c.257C>A (p.Ala86Asp)
 gnomAD v4
9g.36246376C>ACA373419779CLTA,GNEc.364G>T (p.Ala122Ser)
c.94G>T (p.Ala32Ser)
c.271G>T (p.Ala91Ser)
c.486-16822C>A (n.486-16822C>A)
c.256G>T (p.Ala86Ser)
9g.36246376C>GCA373419777CLTA,GNEc.364G>C (p.Ala122Pro)
c.94G>C (p.Ala32Pro)
c.271G>C (p.Ala91Pro)
c.486-16822C>G (n.486-16822C>G)
c.256G>C (p.Ala86Pro)
9g.36246376C>TCA373419778CLTA,GNEc.364G>A (p.Ala122Thr)
c.94G>A (p.Ala32Thr)
c.271G>A (p.Ala91Thr)
c.486-16822C>T (n.486-16822C>T)
c.256G>A (p.Ala86Thr)
9g.36246377C>ACA464620084CLTA,GNEc.363G>T (p.Leu121=)
c.93G>T (p.Leu31=)
c.270G>T (p.Leu90=)
c.486-16821C>A (n.486-16821C>A)
c.255G>T (p.Leu85=)
9g.36246377C>GCA464620083CLTA,GNEc.363G>C (p.Leu121=)
c.93G>C (p.Leu31=)
c.270G>C (p.Leu90=)
c.486-16821C>G (n.486-16821C>G)
c.255G>C (p.Leu85=)
9g.36246377C>TCA464620082CLTA,GNEc.363G>A (p.Leu121=)
c.93G>A (p.Leu31=)
c.270G>A (p.Leu90=)
c.486-16821C>T (n.486-16821C>T)
c.255G>A (p.Leu85=)
9g.36246378A=CA1846321051CLTA,GNEc.362T= (p.Leu121=)
c.92T= (p.Leu31=)
c.269T= (p.Leu90=)
c.486-16820A= (n.486-16820A=)
c.254T= (p.Leu85=)
9g.36246378A>CCA373419780CLTA,GNEc.362T>G (p.Leu121Arg)
c.92T>G (p.Leu31Arg)
c.269T>G (p.Leu90Arg)
c.486-16820A>C (n.486-16820A>C)
c.254T>G (p.Leu85Arg)
9g.36246378A>GCA373419781CLTA,GNEc.362T>C (p.Leu121Pro)
c.92T>C (p.Leu31Pro)
c.269T>C (p.Leu90Pro)
c.486-16820A>G (n.486-16820A>G)
c.254T>C (p.Leu85Pro)
 dbSNP
9g.36246378A>TCA373419782CLTA,GNEc.362T>A (p.Leu121Gln)
c.92T>A (p.Leu31Gln)
c.269T>A (p.Leu90Gln)
c.486-16820A>T (n.486-16820A>T)
c.254T>A (p.Leu85Gln)
9g.36246379G>ACA464620086CLTA,GNEc.361C>T (p.Leu121=)
c.91C>T (p.Leu31=)
c.268C>T (p.Leu90=)
c.486-16819G>A (n.486-16819G>A)
c.253C>T (p.Leu85=)
9g.36246379G>CCA373419783CLTA,GNEc.361C>G (p.Leu121Val)
c.91C>G (p.Leu31Val)
c.268C>G (p.Leu90Val)
c.486-16819G>C (n.486-16819G>C)
c.253C>G (p.Leu85Val)
9g.36246379G>TCA373419784CLTA,GNEc.361C>A (p.Leu121Met)
c.91C>A (p.Leu31Met)
c.268C>A (p.Leu90Met)
c.486-16819G>T (n.486-16819G>T)
c.253C>A (p.Leu85Met)
9g.36246380G>ACA464620087CLTA,GNEc.360C>T (p.Gly120=)
c.90C>T (p.Gly30=)
c.267C>T (p.Gly89=)
c.486-16818G>A (n.486-16818G>A)
c.252C>T (p.Gly84=)
 ClinVar
9g.36246380G>CCA464620088CLTA,GNEc.360C>G (p.Gly120=)
c.90C>G (p.Gly30=)
c.267C>G (p.Gly89=)
c.486-16818G>C (n.486-16818G>C)
c.252C>G (p.Gly84=)
 ClinVar gnomAD v4
9g.36246380G>TCA464620089CLTA,GNEc.360C>A (p.Gly120=)
c.90C>A (p.Gly30=)
c.267C>A (p.Gly89=)
c.486-16818G>T (n.486-16818G>T)
c.252C>A (p.Gly84=)
9g.36246381C>ACA373419785CLTA,GNEc.359G>T (p.Gly120Val)
c.89G>T (p.Gly30Val)
c.266G>T (p.Gly89Val)
c.486-16817C>A (n.486-16817C>A)
c.251G>T (p.Gly84Val)
 gnomAD v4
9g.36246381C>GCA373419787CLTA,GNEc.359G>C (p.Gly120Ala)
c.89G>C (p.Gly30Ala)
c.266G>C (p.Gly89Ala)
c.486-16817C>G (n.486-16817C>G)
c.251G>C (p.Gly84Ala)
9g.36246381C>TCA373419786CLTA,GNEc.359G>A (p.Gly120Asp)
c.89G>A (p.Gly30Asp)
c.266G>A (p.Gly89Asp)
c.486-16817C>T (n.486-16817C>T)
c.251G>A (p.Gly84Asp)
9g.36246382C>ACA373419788CLTA,GNEc.358G>T (p.Gly120Cys)
c.88G>T (p.Gly30Cys)
c.265G>T (p.Gly89Cys)
c.486-16816C>A (n.486-16816C>A)
c.250G>T (p.Gly84Cys)
9g.36246382C=CA1846321055CLTA,GNEc.358G= (p.Gly120=)
c.88G= (p.Gly30=)
c.265G= (p.Gly89=)
c.486-16816C= (n.486-16816C=)
c.250G= (p.Gly84=)
9g.36246382C>GCA373419789CLTA,GNEc.358G>C (p.Gly120Arg)
c.88G>C (p.Gly30Arg)
c.265G>C (p.Gly89Arg)
c.486-16816C>G (n.486-16816C>G)
c.250G>C (p.Gly84Arg)
9g.36246382C>TCA373419790CLTA,GNEc.358G>A (p.Gly120Ser)
c.88G>A (p.Gly30Ser)
c.265G>A (p.Gly89Ser)
c.486-16816C>T (n.486-16816C>T)
c.250G>A (p.Gly84Ser)
 ClinVar dbSNP gnomAD v4
9g.36246383T>ACA464620093CLTA,GNEc.357A>T (p.Val119=)
c.87A>T (p.Val29=)
c.264A>T (p.Val88=)
c.486-16815T>A (n.486-16815T>A)
c.249A>T (p.Val83=)
9g.36246383T>CCA464620094CLTA,GNEc.357A>G (p.Val119=)
c.87A>G (p.Val29=)
c.264A>G (p.Val88=)
c.486-16815T>C (n.486-16815T>C)
c.249A>G (p.Val83=)
9g.36246383T>GCA464620095CLTA,GNEc.357A>C (p.Val119=)
c.87A>C (p.Val29=)
c.264A>C (p.Val88=)
c.486-16815T>G (n.486-16815T>G)
c.249A>C (p.Val83=)
9g.36246384A>CCA373419791CLTA,GNEc.356T>G (p.Val119Gly)
c.86T>G (p.Val29Gly)
c.263T>G (p.Val88Gly)
c.486-16814A>C (n.486-16814A>C)
c.248T>G (p.Val83Gly)
9g.36246384A>GCA373419792CLTA,GNEc.356T>C (p.Val119Ala)
c.86T>C (p.Val29Ala)
c.263T>C (p.Val88Ala)
c.486-16814A>G (n.486-16814A>G)
c.248T>C (p.Val83Ala)
9g.36246384A>TCA373419793CLTA,GNEc.356T>A (p.Val119Glu)
c.86T>A (p.Val29Glu)
c.263T>A (p.Val88Glu)
c.486-16814A>T (n.486-16814A>T)
c.248T>A (p.Val83Glu)
9g.36246385C>ACA373419794CLTA,GNEc.355G>T (p.Val119Leu)
c.85G>T (p.Val29Leu)
c.262G>T (p.Val88Leu)
c.486-16813C>A (n.486-16813C>A)
c.247G>T (p.Val83Leu)
9g.36246385C>GCA373419795CLTA,GNEc.355G>C (p.Val119Leu)
c.85G>C (p.Val29Leu)
c.262G>C (p.Val88Leu)
c.486-16813C>G (n.486-16813C>G)
c.247G>C (p.Val83Leu)
9g.36246385C>TCA373419796CLTA,GNEc.355G>A (p.Val119Ile)
c.85G>A (p.Val29Ile)
c.262G>A (p.Val88Ile)
c.486-16813C>T (n.486-16813C>T)
c.247G>A (p.Val83Ile)
 gnomAD v4
9g.36246386T>ACA464620096CLTA,GNEc.354A>T (p.Ser118=)
c.84A>T (p.Ser28=)
c.261A>T (p.Ser87=)
c.486-16812T>A (n.486-16812T>A)
c.246A>T (p.Ser82=)
9g.36246386T>CCA464620097CLTA,GNEc.354A>G (p.Ser118=)
c.84A>G (p.Ser28=)
c.261A>G (p.Ser87=)
c.486-16812T>C (n.486-16812T>C)
c.246A>G (p.Ser82=)
9g.36246386T>GCA464620098CLTA,GNEc.354A>C (p.Ser118=)
c.84A>C (p.Ser28=)
c.261A>C (p.Ser87=)
c.486-16812T>G (n.486-16812T>G)
c.246A>C (p.Ser82=)
9g.36246387G>ACA373419797CLTA,GNEc.353C>T (p.Ser118Leu)
c.83C>T (p.Ser28Leu)
c.260C>T (p.Ser87Leu)
c.486-16811G>A (n.486-16811G>A)
c.245C>T (p.Ser82Leu)
9g.36246387G>CCA373419798CLTA,GNEc.353C>G (p.Ser118Ter)
c.83C>G (p.Ser28Ter)
c.260C>G (p.Ser87Ter)
c.486-16811G>C (n.486-16811G>C)
c.245C>G (p.Ser82Ter)
 gnomAD v4
9g.36246387G>TCA373419799CLTA,GNEc.353C>A (p.Ser118Ter)
c.83C>A (p.Ser28Ter)
c.260C>A (p.Ser87Ter)
c.486-16811G>T (n.486-16811G>T)
c.245C>A (p.Ser82Ter)
9g.36246388A>CCA373419801CLTA,GNEc.352T>G (p.Ser118Ala)
c.82T>G (p.Ser28Ala)
c.259T>G (p.Ser87Ala)
c.486-16810A>C (n.486-16810A>C)
c.244T>G (p.Ser82Ala)
9g.36246388A>GCA373419802CLTA,GNEc.352T>C (p.Ser118Pro)
c.82T>C (p.Ser28Pro)
c.259T>C (p.Ser87Pro)
c.486-16810A>G (n.486-16810A>G)
c.244T>C (p.Ser82Pro)
9g.36246388A>TCA373419800CLTA,GNEc.352T>A (p.Ser118Thr)
c.82T>A (p.Ser28Thr)
c.259T>A (p.Ser87Thr)
c.486-16810A>T (n.486-16810A>T)
c.244T>A (p.Ser82Thr)
9g.36246389C>ACA373419804CLTA,GNEc.351G>T (p.Glu117Asp)
c.81G>T (p.Glu27Asp)
c.258G>T (p.Glu86Asp)
c.486-16809C>A (n.486-16809C>A)
c.243G>T (p.Glu81Asp)
9g.36246389C>GCA373419803CLTA,GNEc.351G>C (p.Glu117Asp)
c.81G>C (p.Glu27Asp)
c.258G>C (p.Glu86Asp)
c.486-16809C>G (n.486-16809C>G)
c.243G>C (p.Glu81Asp)
 gnomAD v4
9g.36246389C>TCA464620104CLTA,GNEc.351G>A (p.Glu117=)
c.81G>A (p.Glu27=)
c.258G>A (p.Glu86=)
c.486-16809C>T (n.486-16809C>T)
c.243G>A (p.Glu81=)
9g.36246390T>ACA373419805CLTA,GNEc.350A>T (p.Glu117Val)
c.80A>T (p.Glu27Val)
c.257A>T (p.Glu86Val)
c.486-16808T>A (n.486-16808T>A)
c.242A>T (p.Glu81Val)
9g.36246390T>CCA373419806CLTA,GNEc.350A>G (p.Glu117Gly)
c.80A>G (p.Glu27Gly)
c.257A>G (p.Glu86Gly)
c.486-16808T>C (n.486-16808T>C)
c.242A>G (p.Glu81Gly)
9g.36246390T>GCA373419807CLTA,GNEc.350A>C (p.Glu117Ala)
c.80A>C (p.Glu27Ala)
c.257A>C (p.Glu86Ala)
c.486-16808T>G (n.486-16808T>G)
c.242A>C (p.Glu81Ala)
 ClinVar dbSNP
9g.36246391C>ACA373419808CLTA,GNEc.349G>T (p.Glu117Ter)
c.79G>T (p.Glu27Ter)
c.256G>T (p.Glu86Ter)
c.486-16807C>A (n.486-16807C>A)
c.241G>T (p.Glu81Ter)
9g.36246391C>GCA373419809CLTA,GNEc.349G>C (p.Glu117Gln)
c.79G>C (p.Glu27Gln)
c.256G>C (p.Glu86Gln)
c.486-16807C>G (n.486-16807C>G)
c.241G>C (p.Glu81Gln)
9g.36246391C>TCA373419810CLTA,GNEc.349G>A (p.Glu117Lys)
c.79G>A (p.Glu27Lys)
c.256G>A (p.Glu86Lys)
c.486-16807C>T (n.486-16807C>T)
c.241G>A (p.Glu81Lys)
9g.36246392C>ACA464620106CLTA,GNEc.348G>T (p.Val116=)
c.78G>T (p.Val26=)
c.255G>T (p.Val85=)
c.486-16806C>A (n.486-16806C>A)
c.240G>T (p.Val80=)
9g.36246392C>GCA464620107CLTA,GNEc.348G>C (p.Val116=)
c.78G>C (p.Val26=)
c.255G>C (p.Val85=)
c.486-16806C>G (n.486-16806C>G)
c.240G>C (p.Val80=)
9g.36246392C>TCA464620108CLTA,GNEc.348G>A (p.Val116=)
c.78G>A (p.Val26=)
c.255G>A (p.Val85=)
c.486-16806C>T (n.486-16806C>T)
c.240G>A (p.Val80=)
 ClinVar dbSNP
9g.36246393A=CA1846321064CLTA,GNEc.347T= (p.Val116=)
c.77T= (p.Val26=)
c.254T= (p.Val85=)
c.486-16805A= (n.486-16805A=)
c.239T= (p.Val80=)
9g.36246393A>CCA373419811CLTA,GNEc.347T>G (p.Val116Gly)
c.77T>G (p.Val26Gly)
c.254T>G (p.Val85Gly)
c.486-16805A>C (n.486-16805A>C)
c.239T>G (p.Val80Gly)
 dbSNP
9g.36246393A>GCA373419812CLTA,GNEc.347T>C (p.Val116Ala)
c.77T>C (p.Val26Ala)
c.254T>C (p.Val85Ala)
c.486-16805A>G (n.486-16805A>G)
c.239T>C (p.Val80Ala)
9g.36246393A>TCA373419813CLTA,GNEc.347T>A (p.Val116Glu)
c.77T>A (p.Val26Glu)
c.254T>A (p.Val85Glu)
c.486-16805A>T (n.486-16805A>T)
c.239T>A (p.Val80Glu)
9g.36246394C>ACA373419814CLTA,GNEc.346G>T (p.Val116Leu)
c.76G>T (p.Val26Leu)
c.253G>T (p.Val85Leu)
c.486-16804C>A (n.486-16804C>A)
c.238G>T (p.Val80Leu)
9g.36246394C=CA1846321069CLTA,GNEc.346G= (p.Val116=)
c.76G= (p.Val26=)
c.253G= (p.Val85=)
c.486-16804C= (n.486-16804C=)
c.238G= (p.Val80=)
9g.36246394C>GCA373419815CLTA,GNEc.346G>C (p.Val116Leu)
c.76G>C (p.Val26Leu)
c.253G>C (p.Val85Leu)
c.486-16804C>G (n.486-16804C>G)
c.238G>C (p.Val80Leu)
9g.36246394C>TCA373419816CLTA,GNEc.346G>A (p.Val116Met)
c.76G>A (p.Val26Met)
c.253G>A (p.Val85Met)
c.486-16804C>T (n.486-16804C>T)
c.238G>A (p.Val80Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246395C>ACA373419819CLTA,GNEc.345G>T (p.Met115Ile)
c.75G>T (p.Met25Ile)
c.252G>T (p.Met84Ile)
c.486-16803C>A (n.486-16803C>A)
c.237G>T (p.Met79Ile)
9g.36246395C>GCA373419817CLTA,GNEc.345G>C (p.Met115Ile)
c.75G>C (p.Met25Ile)
c.252G>C (p.Met84Ile)
c.486-16803C>G (n.486-16803C>G)
c.237G>C (p.Met79Ile)
9g.36246395C>TCA373419818CLTA,GNEc.345G>A (p.Met115Ile)
c.75G>A (p.Met25Ile)
c.252G>A (p.Met84Ile)
c.486-16803C>T (n.486-16803C>T)
c.237G>A (p.Met79Ile)
9g.36246396A>CCA373419820CLTA,GNEc.344T>G (p.Met115Arg)
c.74T>G (p.Met25Arg)
c.251T>G (p.Met84Arg)
c.486-16802A>C (n.486-16802A>C)
c.236T>G (p.Met79Arg)
9g.36246396A>GCA373419821CLTA,GNEc.344T>C (p.Met115Thr)
c.74T>C (p.Met25Thr)
c.251T>C (p.Met84Thr)
c.486-16802A>G (n.486-16802A>G)
c.236T>C (p.Met79Thr)
9g.36246396A>TCA373419822CLTA,GNEc.344T>A (p.Met115Lys)
c.74T>A (p.Met25Lys)
c.251T>A (p.Met84Lys)
c.486-16802A>T (n.486-16802A>T)
c.236T>A (p.Met79Lys)
9g.36246397T>ACA373419823CLTA,GNEc.343A>T (p.Met115Leu)
c.73A>T (p.Met25Leu)
c.250A>T (p.Met84Leu)
c.486-16801T>A (n.486-16801T>A)
c.235A>T (p.Met79Leu)
9g.36246397T>CCA373419824CLTA,GNEc.343A>G (p.Met115Val)
c.73A>G (p.Met25Val)
c.250A>G (p.Met84Val)
c.486-16801T>C (n.486-16801T>C)
c.235A>G (p.Met79Val)
 gnomAD v4
9g.36246397T>GCA373419825CLTA,GNEc.343A>C (p.Met115Leu)
c.73A>C (p.Met25Leu)
c.250A>C (p.Met84Leu)
c.486-16801T>G (n.486-16801T>G)
c.235A>C (p.Met79Leu)
9g.36246398G>ACA464620115CLTA,GNEc.342C>T (p.Ala114=)
c.72C>T (p.Ala24=)
c.249C>T (p.Ala83=)
c.486-16800G>A (n.486-16800G>A)
c.234C>T (p.Ala78=)
 gnomAD v4
9g.36246398G>CCA464620117CLTA,GNEc.342C>G (p.Ala114=)
c.72C>G (p.Ala24=)
c.249C>G (p.Ala83=)
c.486-16800G>C (n.486-16800G>C)
c.234C>G (p.Ala78=)
9g.36246398G>TCA464620116CLTA,GNEc.342C>A (p.Ala114=)
c.72C>A (p.Ala24=)
c.249C>A (p.Ala83=)
c.486-16800G>T (n.486-16800G>T)
c.234C>A (p.Ala78=)
 gnomAD v4
9g.36246399G>ACA373419826CLTA,GNEc.341C>T (p.Ala114Val)
c.71C>T (p.Ala24Val)
c.248C>T (p.Ala83Val)
c.486-16799G>A (n.486-16799G>A)
c.233C>T (p.Ala78Val)
9g.36246399G>CCA373419827CLTA,GNEc.341C>G (p.Ala114Gly)
c.71C>G (p.Ala24Gly)
c.248C>G (p.Ala83Gly)
c.486-16799G>C (n.486-16799G>C)
c.233C>G (p.Ala78Gly)
9g.36246399G>TCA373419828CLTA,GNEc.341C>A (p.Ala114Asp)
c.71C>A (p.Ala24Asp)
c.248C>A (p.Ala83Asp)
c.486-16799G>T (n.486-16799G>T)
c.233C>A (p.Ala78Asp)
9g.36246400C>ACA373419829CLTA,GNEc.340G>T (p.Ala114Ser)
c.70G>T (p.Ala24Ser)
c.247G>T (p.Ala83Ser)
c.486-16798C>A (n.486-16798C>A)
c.232G>T (p.Ala78Ser)
9g.36246400C=CA1846321072CLTA,GNEc.340G= (p.Ala114=)
c.70G= (p.Ala24=)
c.247G= (p.Ala83=)
c.486-16798C= (n.486-16798C=)
c.232G= (p.Ala78=)
9g.36246400C>GCA373419830CLTA,GNEc.340G>C (p.Ala114Pro)
c.70G>C (p.Ala24Pro)
c.247G>C (p.Ala83Pro)
c.486-16798C>G (n.486-16798C>G)
c.232G>C (p.Ala78Pro)
9g.36246400C>TCA373419831CLTA,GNEc.340G>A (p.Ala114Thr)
c.70G>A (p.Ala24Thr)
c.247G>A (p.Ala83Thr)
c.486-16798C>T (n.486-16798C>T)
c.232G>A (p.Ala78Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246401T>ACA464620121CLTA,GNEc.339A>T (p.Ala113=)
c.69A>T (p.Ala23=)
c.246A>T (p.Ala82=)
c.486-16797T>A (n.486-16797T>A)
c.231A>T (p.Ala77=)
9g.36246401T>CCA464620123CLTA,GNEc.339A>G (p.Ala113=)
c.69A>G (p.Ala23=)
c.246A>G (p.Ala82=)
c.486-16797T>C (n.486-16797T>C)
c.231A>G (p.Ala77=)
 ClinVar dbSNP
9g.36246401T>GCA464620124CLTA,GNEc.339A>C (p.Ala113=)
c.69A>C (p.Ala23=)
c.246A>C (p.Ala82=)
c.486-16797T>G (n.486-16797T>G)
c.231A>C (p.Ala77=)
 gnomAD v4
9g.36246401dupCA2689947828CLTA,GNEc.339dup (p.Ala114SerfsTer18)
c.69dup (p.Ala24SerfsTer18)
c.246dup (p.Ala83SerfsTer18)
c.486-16797dup (n.486-16797dup)
c.231dup (p.Ala78SerfsTer18)
 gnomAD v4
9g.36246402G>ACA373419834CLTA,GNEc.338C>T (p.Ala113Val)
c.68C>T (p.Ala23Val)
c.245C>T (p.Ala82Val)
c.486-16796G>A (n.486-16796G>A)
c.230C>T (p.Ala77Val)
9g.36246402G>CCA373419833CLTA,GNEc.338C>G (p.Ala113Gly)
c.68C>G (p.Ala23Gly)
c.245C>G (p.Ala82Gly)
c.486-16796G>C (n.486-16796G>C)
c.230C>G (p.Ala77Gly)
9g.36246402G>TCA373419832CLTA,GNEc.338C>A (p.Ala113Glu)
c.68C>A (p.Ala23Glu)
c.245C>A (p.Ala82Glu)
c.486-16796G>T (n.486-16796G>T)
c.230C>A (p.Ala77Glu)
9g.36246403C>ACA373419835CLTA,GNEc.337G>T (p.Ala113Ser)
c.67G>T (p.Ala23Ser)
c.244G>T (p.Ala82Ser)
c.486-16795C>A (n.486-16795C>A)
c.229G>T (p.Ala77Ser)
9g.36246403C>GCA373419836CLTA,GNEc.337G>C (p.Ala113Pro)
c.67G>C (p.Ala23Pro)
c.244G>C (p.Ala82Pro)
c.486-16795C>G (n.486-16795C>G)
c.229G>C (p.Ala77Pro)
9g.36246403C>TCA373419837CLTA,GNEc.337G>A (p.Ala113Thr)
c.67G>A (p.Ala23Thr)
c.244G>A (p.Ala82Thr)
c.486-16795C>T (n.486-16795C>T)
c.229G>A (p.Ala77Thr)
9g.36246404C>ACA373419838CLTA,GNEc.336G>T (p.Glu112Asp)
c.66G>T (p.Glu22Asp)
c.243G>T (p.Glu81Asp)
c.486-16794C>A (n.486-16794C>A)
c.228G>T (p.Glu76Asp)
9g.36246404C>GCA373419839CLTA,GNEc.336G>C (p.Glu112Asp)
c.66G>C (p.Glu22Asp)
c.243G>C (p.Glu81Asp)
c.486-16794C>G (n.486-16794C>G)
c.228G>C (p.Glu76Asp)
 gnomAD v4
9g.36246404C>TCA464620126CLTA,GNEc.336G>A (p.Glu112=)
c.66G>A (p.Glu22=)
c.243G>A (p.Glu81=)
c.486-16794C>T (n.486-16794C>T)
c.228G>A (p.Glu76=)
 ClinVar
9g.36246405T>ACA373419841CLTA,GNEc.335A>T (p.Glu112Val)
c.65A>T (p.Glu22Val)
c.242A>T (p.Glu81Val)
c.486-16793T>A (n.486-16793T>A)
c.227A>T (p.Glu76Val)
9g.36246405T>CCA373419840CLTA,GNEc.335A>G (p.Glu112Gly)
c.65A>G (p.Glu22Gly)
c.242A>G (p.Glu81Gly)
c.486-16793T>C (n.486-16793T>C)
c.227A>G (p.Glu76Gly)
 gnomAD v4
9g.36246405T>GCA5056743CLTA,GNEc.335A>C (p.Glu112Ala)
c.65A>C (p.Glu22Ala)
c.242A>C (p.Glu81Ala)
c.486-16793T>G (n.486-16793T>G)
c.227A>C (p.Glu76Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246405T=CA1846321076CLTA,GNEc.335A= (p.Glu112=)
c.65A= (p.Glu22=)
c.242A= (p.Glu81=)
c.486-16793T= (n.486-16793T=)
c.227A= (p.Glu76=)
9g.36246406C>ACA373419842CLTA,GNEc.334G>T (p.Glu112Ter)
c.64G>T (p.Glu22Ter)
c.241G>T (p.Glu81Ter)
c.486-16792C>A (n.486-16792C>A)
c.226G>T (p.Glu76Ter)
 dbSNP
9g.36246406C=CA1846321080CLTA,GNEc.334G= (p.Glu112=)
c.64G= (p.Glu22=)
c.241G= (p.Glu81=)
c.486-16792C= (n.486-16792C=)
c.226G= (p.Glu76=)
9g.36246406C>GCA373419843CLTA,GNEc.334G>C (p.Glu112Gln)
c.64G>C (p.Glu22Gln)
c.241G>C (p.Glu81Gln)
c.486-16792C>G (n.486-16792C>G)
c.226G>C (p.Glu76Gln)
9g.36246406C>TCA373419844CLTA,GNEc.334G>A (p.Glu112Lys)
c.64G>A (p.Glu22Lys)
c.241G>A (p.Glu81Lys)
c.486-16792C>T (n.486-16792C>T)
c.226G>A (p.Glu76Lys)
 dbSNP
9g.36246407A=CA1846321084CLTA,GNEc.333T= (p.Asp111=)
c.63T= (p.Asp21=)
c.240T= (p.Asp80=)
c.486-16791A= (n.486-16791A=)
c.225T= (p.Asp75=)
9g.36246407A>CCA373419845CLTA,GNEc.333T>G (p.Asp111Glu)
c.63T>G (p.Asp21Glu)
c.240T>G (p.Asp80Glu)
c.486-16791A>C (n.486-16791A>C)
c.225T>G (p.Asp75Glu)
9g.36246407A>GCA5056744CLTA,GNEc.333T>C (p.Asp111=)
c.63T>C (p.Asp21=)
c.240T>C (p.Asp80=)
c.486-16791A>G (n.486-16791A>G)
c.225T>C (p.Asp75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246407A>TCA373419846CLTA,GNEc.333T>A (p.Asp111Glu)
c.63T>A (p.Asp21Glu)
c.240T>A (p.Asp80Glu)
c.486-16791A>T (n.486-16791A>T)
c.225T>A (p.Asp75Glu)
9g.36246408T>ACA373419847CLTA,GNEc.332A>T (p.Asp111Val)
c.62A>T (p.Asp21Val)
c.239A>T (p.Asp80Val)
c.486-16790T>A (n.486-16790T>A)
c.224A>T (p.Asp75Val)
9g.36246408T>CCA373419849CLTA,GNEc.332A>G (p.Asp111Gly)
c.62A>G (p.Asp21Gly)
c.239A>G (p.Asp80Gly)
c.486-16790T>C (n.486-16790T>C)
c.224A>G (p.Asp75Gly)
 gnomAD v4
9g.36246408T>GCA373419848CLTA,GNEc.332A>C (p.Asp111Ala)
c.62A>C (p.Asp21Ala)
c.239A>C (p.Asp80Ala)
c.486-16790T>G (n.486-16790T>G)
c.224A>C (p.Asp75Ala)
9g.36246411_36246413delCA2580616200CLTA,GNEc.330_332del (p.Glu110del)
c.60_62del (p.Glu20del)
c.237_239del (p.Glu79del)
c.486-16787_486-16785del (n.486-16787_486-16785del)
c.222_224del (p.Glu74del)
 ClinVar gnomAD v4
9g.36246409C>ACA373419850CLTA,GNEc.331G>T (p.Asp111Tyr)
c.61G>T (p.Asp21Tyr)
c.238G>T (p.Asp80Tyr)
c.486-16789C>A (n.486-16789C>A)
c.223G>T (p.Asp75Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246409C=CA1846321087CLTA,GNEc.331G= (p.Asp111=)
c.61G= (p.Asp21=)
c.238G= (p.Asp80=)
c.486-16789C= (n.486-16789C=)
c.223G= (p.Asp75=)
9g.36246409C>GCA373419851CLTA,GNEc.331G>C (p.Asp111His)
c.61G>C (p.Asp21His)
c.238G>C (p.Asp80His)
c.486-16789C>G (n.486-16789C>G)
c.223G>C (p.Asp75His)
9g.36246409C>TCA373419852CLTA,GNEc.331G>A (p.Asp111Asn)
c.61G>A (p.Asp21Asn)
c.238G>A (p.Asp80Asn)
c.486-16789C>T (n.486-16789C>T)
c.223G>A (p.Asp75Asn)
9g.36246410T>ACA373419853CLTA,GNEc.330A>T (p.Glu110Asp)
c.60A>T (p.Glu20Asp)
c.237A>T (p.Glu79Asp)
c.486-16788T>A (n.486-16788T>A)
c.222A>T (p.Glu74Asp)
9g.36246410T>CCA464620133CLTA,GNEc.330A>G (p.Glu110=)
c.60A>G (p.Glu20=)
c.237A>G (p.Glu79=)
c.486-16788T>C (n.486-16788T>C)
c.222A>G (p.Glu74=)
9g.36246410T>GCA373419854CLTA,GNEc.330A>C (p.Glu110Asp)
c.60A>C (p.Glu20Asp)
c.237A>C (p.Glu79Asp)
c.486-16788T>G (n.486-16788T>G)
c.222A>C (p.Glu74Asp)
9g.36246411T>ACA373419855CLTA,GNEc.329A>T (p.Glu110Val)
c.59A>T (p.Glu20Val)
c.236A>T (p.Glu79Val)
c.486-16787T>A (n.486-16787T>A)
c.221A>T (p.Glu74Val)
9g.36246411T>CCA373419856CLTA,GNEc.329A>G (p.Glu110Gly)
c.59A>G (p.Glu20Gly)
c.236A>G (p.Glu79Gly)
c.486-16787T>C (n.486-16787T>C)
c.221A>G (p.Glu74Gly)
9g.36246411T>GCA373419857CLTA,GNEc.329A>C (p.Glu110Ala)
c.59A>C (p.Glu20Ala)
c.236A>C (p.Glu79Ala)
c.486-16787T>G (n.486-16787T>G)
c.221A>C (p.Glu74Ala)
9g.36246413_36246414delCA1123252992CLTA,GNEc.328_329del (p.Glu110ArgfsTer2)
c.58_59del (p.Glu20ArgfsTer2)
c.235_236del (p.Glu79ArgfsTer2)
c.486-16785_486-16784del (n.486-16785_486-16784del)
c.220_221del (p.Glu74ArgfsTer2)
 gnomAD v3 gnomAD v4
9g.36246412C>ACA373419858CLTA,GNEc.328G>T (p.Glu110Ter)
c.58G>T (p.Glu20Ter)
c.235G>T (p.Glu79Ter)
c.486-16786C>A (n.486-16786C>A)
c.220G>T (p.Glu74Ter)
9g.36246412C>GCA373419859CLTA,GNEc.328G>C (p.Glu110Gln)
c.58G>C (p.Glu20Gln)
c.235G>C (p.Glu79Gln)
c.486-16786C>G (n.486-16786C>G)
c.220G>C (p.Glu74Gln)
9g.36246412C>TCA373419860CLTA,GNEc.328G>A (p.Glu110Lys)
c.58G>A (p.Glu20Lys)
c.235G>A (p.Glu79Lys)
c.486-16786C>T (n.486-16786C>T)
c.220G>A (p.Glu74Lys)
9g.36246413T>ACA464620136CLTA,GNEc.327A>T (p.Gly109=)
c.57A>T (p.Gly19=)
c.234A>T (p.Gly78=)
c.486-16785T>A (n.486-16785T>A)
c.219A>T (p.Gly73=)
9g.36246413T>CCA464620137CLTA,GNEc.327A>G (p.Gly109=)
c.57A>G (p.Gly19=)
c.234A>G (p.Gly78=)
c.486-16785T>C (n.486-16785T>C)
c.219A>G (p.Gly73=)
9g.36246413T>GCA464620138CLTA,GNEc.327A>C (p.Gly109=)
c.57A>C (p.Gly19=)
c.234A>C (p.Gly78=)
c.486-16785T>G (n.486-16785T>G)
c.219A>C (p.Gly73=)
9g.36246414C>ACA373419862CLTA,GNEc.326G>T (p.Gly109Val)
c.56G>T (p.Gly19Val)
c.233G>T (p.Gly78Val)
c.486-16784C>A (n.486-16784C>A)
c.218G>T (p.Gly73Val)
9g.36246414C=CA1846321096CLTA,GNEc.326G= (p.Gly109=)
c.56G= (p.Gly19=)
c.233G= (p.Gly78=)
c.486-16784C= (n.486-16784C=)
c.218G= (p.Gly73=)
9g.36246414C>GCA373419861CLTA,GNEc.326G>C (p.Gly109Ala)
c.56G>C (p.Gly19Ala)
c.233G>C (p.Gly78Ala)
c.486-16784C>G (n.486-16784C>G)
c.218G>C (p.Gly73Ala)
9g.36246414C>TCA10605580CLTA,GNEc.326G>A (p.Gly109Glu)
c.56G>A (p.Gly19Glu)
c.233G>A (p.Gly78Glu)
c.486-16784C>T (n.486-16784C>T)
c.218G>A (p.Gly73Glu)
 ClinVar dbSNP gnomAD v4
9g.36246415C>ACA373419863CLTA,GNEc.325G>T (p.Gly109Ter)
c.55G>T (p.Gly19Ter)
c.232G>T (p.Gly78Ter)
c.486-16783C>A (n.486-16783C>A)
c.217G>T (p.Gly73Ter)
9g.36246415C>GCA373419865CLTA,GNEc.325G>C (p.Gly109Arg)
c.55G>C (p.Gly19Arg)
c.232G>C (p.Gly78Arg)
c.486-16783C>G (n.486-16783C>G)
c.217G>C (p.Gly73Arg)
9g.36246415C>TCA373419864CLTA,GNEc.325G>A (p.Gly109Arg)
c.55G>A (p.Gly19Arg)
c.232G>A (p.Gly78Arg)
c.486-16783C>T (n.486-16783C>T)
c.217G>A (p.Gly73Arg)
9g.36246416C>ACA192828409CLTA,GNEc.324G>T (p.Arg108Ser)
c.54G>T (p.Arg18Ser)
c.231G>T (p.Arg77Ser)
c.486-16782C>A (n.486-16782C>A)
c.216G>T (p.Arg72Ser)
 dbSNP
9g.36246416C=CA1846321099CLTA,GNEc.324G= (p.Arg108=)
c.54G= (p.Arg18=)
c.231G= (p.Arg77=)
c.486-16782C= (n.486-16782C=)
c.216G= (p.Arg72=)
9g.36246416C>GCA373419866CLTA,GNEc.324G>C (p.Arg108Ser)
c.54G>C (p.Arg18Ser)
c.231G>C (p.Arg77Ser)
c.486-16782C>G (n.486-16782C>G)
c.216G>C (p.Arg72Ser)
9g.36246416C>TCA464620142CLTA,GNEc.324G>A (p.Arg108=)
c.54G>A (p.Arg18=)
c.231G>A (p.Arg77=)
c.486-16782C>T (n.486-16782C>T)
c.216G>A (p.Arg72=)
9g.36246417C>ACA373419867CLTA,GNEc.323G>T (p.Arg108Met)
c.53G>T (p.Arg18Met)
c.230G>T (p.Arg77Met)
c.486-16781C>A (n.486-16781C>A)
c.215G>T (p.Arg72Met)
9g.36246417C>GCA373419869CLTA,GNEc.323G>C (p.Arg108Thr)
c.53G>C (p.Arg18Thr)
c.230G>C (p.Arg77Thr)
c.486-16781C>G (n.486-16781C>G)
c.215G>C (p.Arg72Thr)
9g.36246417C>TCA373419868CLTA,GNEc.323G>A (p.Arg108Lys)
c.53G>A (p.Arg18Lys)
c.230G>A (p.Arg77Lys)
c.486-16781C>T (n.486-16781C>T)
c.215G>A (p.Arg72Lys)
9g.36246418T>ACA373419870CLTA,GNEc.322A>T (p.Arg108Trp)
c.52A>T (p.Arg18Trp)
c.229A>T (p.Arg77Trp)
c.486-16780T>A (n.486-16780T>A)
c.214A>T (p.Arg72Trp)
9g.36246418T>CCA373419871CLTA,GNEc.322A>G (p.Arg108Gly)
c.52A>G (p.Arg18Gly)
c.229A>G (p.Arg77Gly)
c.486-16780T>C (n.486-16780T>C)
c.214A>G (p.Arg72Gly)
9g.36246418T>GCA464620144CLTA,GNEc.322A>C (p.Arg108=)
c.52A>C (p.Arg18=)
c.229A>C (p.Arg77=)
c.486-16780T>G (n.486-16780T>G)
c.214A>C (p.Arg72=)
9g.36246419C>ACA464620147CLTA,GNEc.321G>T (p.Val107=)
c.51G>T (p.Val17=)
c.228G>T (p.Val76=)
c.486-16779C>A (n.486-16779C>A)
c.213G>T (p.Val71=)
9g.36246419C>GCA464620146CLTA,GNEc.321G>C (p.Val107=)
c.51G>C (p.Val17=)
c.228G>C (p.Val76=)
c.486-16779C>G (n.486-16779C>G)
c.213G>C (p.Val71=)
 COSMIC COSMIC COSMIC
9g.36246419C>TCA464620145CLTA,GNEc.321G>A (p.Val107=)
c.51G>A (p.Val17=)
c.228G>A (p.Val76=)
c.486-16779C>T (n.486-16779C>T)
c.213G>A (p.Val71=)
9g.36246419_36246422delinsCACACA1846321102CLTA,GNEc.318_321delinsTGTG (p.Ile106=)
c.48_51delinsTGTG (p.Ile16=)
c.225_228delinsTGTG (p.Ile75=)
c.486-16779_486-16776delinsCACA (n.486-16779_486-16776delinsCACA)
c.210_213delinsTGTG (p.Ile70=)
9g.36246419_36246420insTGCA1123252996CLTA,GNEc.320_321insCA (p.Asp111LysfsTer10)
c.50_51insCA (p.Asp21LysfsTer10)
c.227_228insCA (p.Asp80LysfsTer10)
c.486-16779_486-16778insTG (n.486-16779_486-16778insTG)
c.212_213insCA (p.Asp75LysfsTer10)
 gnomAD v3 gnomAD v4
9g.36246420A>CCA373419872CLTA,GNEc.320T>G (p.Val107Gly)
c.50T>G (p.Val17Gly)
c.227T>G (p.Val76Gly)
c.486-16778A>C (n.486-16778A>C)
c.212T>G (p.Val71Gly)
9g.36246420A>GCA373419873CLTA,GNEc.320T>C (p.Val107Ala)
c.50T>C (p.Val17Ala)
c.227T>C (p.Val76Ala)
c.486-16778A>G (n.486-16778A>G)
c.212T>C (p.Val71Ala)
9g.36246420A>TCA373419874CLTA,GNEc.320T>A (p.Val107Glu)
c.50T>A (p.Val17Glu)
c.227T>A (p.Val76Glu)
c.486-16778A>T (n.486-16778A>T)
c.212T>A (p.Val71Glu)
9g.36246421_36246423delCA588147230CLTA,GNEc.318_320del (p.Ile106_Val107delinsMet)
c.48_50del (p.Ile16_Val17delinsMet)
c.225_227del (p.Ile75_Val76delinsMet)
c.486-16777_486-16775del (n.486-16777_486-16775del)
c.210_212del (p.Ile70_Val71delinsMet)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246421C>ACA373419875CLTA,GNEc.319G>T (p.Val107Leu)
c.49G>T (p.Val17Leu)
c.226G>T (p.Val76Leu)
c.486-16777C>A (n.486-16777C>A)
c.211G>T (p.Val71Leu)
9g.36246421C>GCA373419876CLTA,GNEc.319G>C (p.Val107Leu)
c.49G>C (p.Val17Leu)
c.226G>C (p.Val76Leu)
c.486-16777C>G (n.486-16777C>G)
c.211G>C (p.Val71Leu)
9g.36246421C>TCA373419877CLTA,GNEc.319G>A (p.Val107Met)
c.49G>A (p.Val17Met)
c.226G>A (p.Val76Met)
c.486-16777C>T (n.486-16777C>T)
c.211G>A (p.Val71Met)
9g.36246422A>CCA373419878CLTA,GNEc.318T>G (p.Ile106Met)
c.48T>G (p.Ile16Met)
c.225T>G (p.Ile75Met)
c.486-16776A>C (n.486-16776A>C)
c.210T>G (p.Ile70Met)
9g.36246422A>GCA464620149CLTA,GNEc.318T>C (p.Ile106=)
c.48T>C (p.Ile16=)
c.225T>C (p.Ile75=)
c.486-16776A>G (n.486-16776A>G)
c.210T>C (p.Ile70=)
9g.36246422A>TCA464620148CLTA,GNEc.318T>A (p.Ile106=)
c.48T>A (p.Ile16=)
c.225T>A (p.Ile75=)
c.486-16776A>T (n.486-16776A>T)
c.210T>A (p.Ile70=)
9g.36246423A>CCA373419881CLTA,GNEc.317T>G (p.Ile106Ser)
c.47T>G (p.Ile16Ser)
c.224T>G (p.Ile75Ser)
c.486-16775A>C (n.486-16775A>C)
c.209T>G (p.Ile70Ser)
9g.36246423A>GCA373419880CLTA,GNEc.317T>C (p.Ile106Thr)
c.47T>C (p.Ile16Thr)
c.224T>C (p.Ile75Thr)
c.486-16775A>G (n.486-16775A>G)
c.209T>C (p.Ile70Thr)
9g.36246423A>TCA373419879CLTA,GNEc.317T>A (p.Ile106Asn)
c.47T>A (p.Ile16Asn)
c.224T>A (p.Ile75Asn)
c.486-16775A>T (n.486-16775A>T)
c.209T>A (p.Ile70Asn)
9g.36246424T>ACA373419882CLTA,GNEc.316A>T (p.Ile106Phe)
c.46A>T (p.Ile16Phe)
c.223A>T (p.Ile75Phe)
c.486-16774T>A (n.486-16774T>A)
c.208A>T (p.Ile70Phe)
9g.36246424T>CCA373419883CLTA,GNEc.316A>G (p.Ile106Val)
c.46A>G (p.Ile16Val)
c.223A>G (p.Ile75Val)
c.486-16774T>C (n.486-16774T>C)
c.208A>G (p.Ile70Val)
9g.36246424T>GCA373419884CLTA,GNEc.316A>C (p.Ile106Leu)
c.46A>C (p.Ile16Leu)
c.223A>C (p.Ile75Leu)
c.486-16774T>G (n.486-16774T>G)
c.208A>C (p.Ile70Leu)
9g.36246425T>ACA464620152CLTA,GNEc.315A>T (p.Thr105=)
c.45A>T (p.Thr15=)
c.222A>T (p.Thr74=)
c.486-16773T>A (n.486-16773T>A)
c.207A>T (p.Thr69=)
9g.36246425T>CCA464620154CLTA,GNEc.315A>G (p.Thr105=)
c.45A>G (p.Thr15=)
c.222A>G (p.Thr74=)
c.486-16773T>C (n.486-16773T>C)
c.207A>G (p.Thr69=)
 dbSNP gnomAD v2
9g.36246425T>GCA464620153CLTA,GNEc.315A>C (p.Thr105=)
c.45A>C (p.Thr15=)
c.222A>C (p.Thr74=)
c.486-16773T>G (n.486-16773T>G)
c.207A>C (p.Thr69=)
9g.36246425T=CA1846321107CLTA,GNEc.315A= (p.Thr105=)
c.45A= (p.Thr15=)
c.222A= (p.Thr74=)
c.486-16773T= (n.486-16773T=)
c.207A= (p.Thr69=)
9g.36246430_36246431delCA2580616201CLTA,GNEc.314_315del (p.Thr105AsnfsTer7)
c.44_45del (p.Thr15AsnfsTer7)
c.221_222del (p.Thr74AsnfsTer7)
c.486-16768_486-16767del (n.486-16768_486-16767del)
c.206_207del (p.Thr69AsnfsTer7)
 ClinVar dbSNP
9g.36246426G>ACA373419885CLTA,GNEc.314C>T (p.Thr105Ile)
c.44C>T (p.Thr15Ile)
c.221C>T (p.Thr74Ile)
c.486-16772G>A (n.486-16772G>A)
c.206C>T (p.Thr69Ile)
 COSMIC COSMIC COSMIC
9g.36246426G>CCA373419886CLTA,GNEc.314C>G (p.Thr105Arg)
c.44C>G (p.Thr15Arg)
c.221C>G (p.Thr74Arg)
c.486-16772G>C (n.486-16772G>C)
c.206C>G (p.Thr69Arg)
9g.36246426G>TCA373419887CLTA,GNEc.314C>A (p.Thr105Lys)
c.44C>A (p.Thr15Lys)
c.221C>A (p.Thr74Lys)
c.486-16772G>T (n.486-16772G>T)
c.206C>A (p.Thr69Lys)
9g.36246427T>ACA373419888CLTA,GNEc.313A>T (p.Thr105Ser)
c.43A>T (p.Thr15Ser)
c.220A>T (p.Thr74Ser)
c.486-16771T>A (n.486-16771T>A)
c.205A>T (p.Thr69Ser)
9g.36246427T>CCA373419889CLTA,GNEc.313A>G (p.Thr105Ala)
c.43A>G (p.Thr15Ala)
c.220A>G (p.Thr74Ala)
c.486-16771T>C (n.486-16771T>C)
c.205A>G (p.Thr69Ala)
9g.36246427T>GCA192828413CLTA,GNEc.313A>C (p.Thr105Pro)
c.43A>C (p.Thr15Pro)
c.220A>C (p.Thr74Pro)
c.486-16771T>G (n.486-16771T>G)
c.205A>C (p.Thr69Pro)
 dbSNP
9g.36246427T=CA1846321114CLTA,GNEc.313A= (p.Thr105=)
c.43A= (p.Thr15=)
c.220A= (p.Thr74=)
c.486-16771T= (n.486-16771T=)
c.205A= (p.Thr69=)
9g.36246428G>ACA464620155CLTA,GNEc.312C>T (p.His104=)
c.42C>T (p.His14=)
c.219C>T (p.His73=)
c.486-16770G>A (n.486-16770G>A)
c.204C>T (p.His68=)
9g.36246428G>CCA373419890CLTA,GNEc.312C>G (p.His104Gln)
c.42C>G (p.His14Gln)
c.219C>G (p.His73Gln)
c.486-16770G>C (n.486-16770G>C)
c.204C>G (p.His68Gln)
9g.36246428G>TCA373419891CLTA,GNEc.312C>A (p.His104Gln)
c.42C>A (p.His14Gln)
c.219C>A (p.His73Gln)
c.486-16770G>T (n.486-16770G>T)
c.204C>A (p.His68Gln)
9g.36246429T>ACA373419893CLTA,GNEc.311A>T (p.His104Leu)
c.41A>T (p.His14Leu)
c.218A>T (p.His73Leu)
c.486-16769T>A (n.486-16769T>A)
c.203A>T (p.His68Leu)
9g.36246429T>CCA373419894CLTA,GNEc.311A>G (p.His104Arg)
c.41A>G (p.His14Arg)
c.218A>G (p.His73Arg)
c.486-16769T>C (n.486-16769T>C)
c.203A>G (p.His68Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.36246429T>GCA373419892CLTA,GNEc.311A>C (p.His104Pro)
c.41A>C (p.His14Pro)
c.218A>C (p.His73Pro)
c.486-16769T>G (n.486-16769T>G)
c.203A>C (p.His68Pro)
9g.36246429T=CA1846321119CLTA,GNEc.311A= (p.His104=)
c.41A= (p.His14=)
c.218A= (p.His73=)
c.486-16769T= (n.486-16769T=)
c.203A= (p.His68=)
9g.36246430G>ACA373419895CLTA,GNEc.310C>T (p.His104Tyr)
c.40C>T (p.His14Tyr)
c.217C>T (p.His73Tyr)
c.486-16768G>A (n.486-16768G>A)
c.202C>T (p.His68Tyr)
 gnomAD v4
9g.36246430G>CCA373419896CLTA,GNEc.310C>G (p.His104Asp)
c.40C>G (p.His14Asp)
c.217C>G (p.His73Asp)
c.486-16768G>C (n.486-16768G>C)
c.202C>G (p.His68Asp)
9g.36246430G>TCA373419897CLTA,GNEc.310C>A (p.His104Asn)
c.40C>A (p.His14Asn)
c.217C>A (p.His73Asn)
c.486-16768G>T (n.486-16768G>T)
c.202C>A (p.His68Asn)
9g.36246431T>ACA464620156CLTA,GNEc.309A>T (p.Leu103=)
c.39A>T (p.Leu13=)
c.216A>T (p.Leu72=)
c.486-16767T>A (n.486-16767T>A)
c.201A>T (p.Leu67=)
9g.36246431T>CCA464620157CLTA,GNEc.309A>G (p.Leu103=)
c.39A>G (p.Leu13=)
c.216A>G (p.Leu72=)
c.486-16767T>C (n.486-16767T>C)
c.201A>G (p.Leu67=)
9g.36246431T>GCA464620158CLTA,GNEc.309A>C (p.Leu103=)
c.39A>C (p.Leu13=)
c.216A>C (p.Leu72=)
c.486-16767T>G (n.486-16767T>G)
c.201A>C (p.Leu67=)
9g.36246432A>CCA373419898CLTA,GNEc.308T>G (p.Leu103Arg)
c.38T>G (p.Leu13Arg)
c.215T>G (p.Leu72Arg)
c.486-16766A>C (n.486-16766A>C)
c.200T>G (p.Leu67Arg)
9g.36246432A>GCA373419899CLTA,GNEc.308T>C (p.Leu103Pro)
c.38T>C (p.Leu13Pro)
c.215T>C (p.Leu72Pro)
c.486-16766A>G (n.486-16766A>G)
c.200T>C (p.Leu67Pro)
9g.36246432A>TCA373419900CLTA,GNEc.308T>A (p.Leu103Gln)
c.38T>A (p.Leu13Gln)
c.215T>A (p.Leu72Gln)
c.486-16766A>T (n.486-16766A>T)
c.200T>A (p.Leu67Gln)
9g.36246433G>ACA464620159CLTA,GNEc.307C>T (p.Leu103=)
c.37C>T (p.Leu13=)
c.214C>T (p.Leu72=)
c.486-16765G>A (n.486-16765G>A)
c.199C>T (p.Leu67=)
9g.36246433G>CCA373419901CLTA,GNEc.307C>G (p.Leu103Val)
c.37C>G (p.Leu13Val)
c.214C>G (p.Leu72Val)
c.486-16765G>C (n.486-16765G>C)
c.199C>G (p.Leu67Val)
9g.36246433G>TCA373419902CLTA,GNEc.307C>A (p.Leu103Ile)
c.37C>A (p.Leu13Ile)
c.214C>A (p.Leu72Ile)
c.486-16765G>T (n.486-16765G>T)
c.199C>A (p.Leu67Ile)
 gnomAD v4
9g.36246434C>ACA192828424CLTA,GNEc.306G>T (p.Arg102Ser)
c.36G>T (p.Arg12Ser)
c.213G>T (p.Arg71Ser)
c.486-16764C>A (n.486-16764C>A)
c.198G>T (p.Arg66Ser)
 dbSNP
9g.36246434C=CA1846321120CLTA,GNEc.306G= (p.Arg102=)
c.36G= (p.Arg12=)
c.213G= (p.Arg71=)
c.486-16764C= (n.486-16764C=)
c.198G= (p.Arg66=)
9g.36246434C>GCA373419903CLTA,GNEc.306G>C (p.Arg102Ser)
c.36G>C (p.Arg12Ser)
c.213G>C (p.Arg71Ser)
c.486-16764C>G (n.486-16764C>G)
c.198G>C (p.Arg66Ser)
9g.36246434C>TCA464620160CLTA,GNEc.306G>A (p.Arg102=)
c.36G>A (p.Arg12=)
c.213G>A (p.Arg71=)
c.486-16764C>T (n.486-16764C>T)
c.198G>A (p.Arg66=)
 ClinVar
9g.36246435C>ACA373419904CLTA,GNEc.305G>T (p.Arg102Met)
c.35G>T (p.Arg12Met)
c.212G>T (p.Arg71Met)
c.486-16763C>A (n.486-16763C>A)
c.197G>T (p.Arg66Met)
9g.36246435C=CA1846321124CLTA,GNEc.305G= (p.Arg102=)
c.35G= (p.Arg12=)
c.212G= (p.Arg71=)
c.486-16763C= (n.486-16763C=)
c.197G= (p.Arg66=)
9g.36246435C>GCA373419905CLTA,GNEc.305G>C (p.Arg102Thr)
c.35G>C (p.Arg12Thr)
c.212G>C (p.Arg71Thr)
c.486-16763C>G (n.486-16763C>G)
c.197G>C (p.Arg66Thr)
9g.36246435C>TCA5056745CLTA,GNEc.305G>A (p.Arg102Lys)
c.35G>A (p.Arg12Lys)
c.212G>A (p.Arg71Lys)
c.486-16763C>T (n.486-16763C>T)
c.197G>A (p.Arg66Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246436T>ACA10606885CLTA,GNEc.304A>T (p.Arg102Trp)
c.34A>T (p.Arg12Trp)
c.211A>T (p.Arg71Trp)
c.486-16762T>A (n.486-16762T>A)
c.196A>T (p.Arg66Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36246436T>CCA373419906CLTA,GNEc.304A>G (p.Arg102Gly)
c.34A>G (p.Arg12Gly)
c.211A>G (p.Arg71Gly)
c.486-16762T>C (n.486-16762T>C)
c.196A>G (p.Arg66Gly)
9g.36246436T>GCA464620162CLTA,GNEc.304A>C (p.Arg102=)
c.34A>C (p.Arg12=)
c.211A>C (p.Arg71=)
c.486-16762T>G (n.486-16762T>G)
c.196A>C (p.Arg66=)
9g.36246436T=CA1846321130CLTA,GNEc.304A= (p.Arg102=)
c.34A= (p.Arg12=)
c.211A= (p.Arg71=)
c.486-16762T= (n.486-16762T=)
c.196A= (p.Arg66=)
9g.36246437G>ACA5056746CLTA,GNEc.303C>T (p.Thr101=)
c.33C>T (p.Thr11=)
c.210C>T (p.Thr70=)
c.486-16761G>A (n.486-16761G>A)
c.195C>T (p.Thr65=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246437G>CCA464620163CLTA,GNEc.303C>G (p.Thr101=)
c.33C>G (p.Thr11=)
c.210C>G (p.Thr70=)
c.486-16761G>C (n.486-16761G>C)
c.195C>G (p.Thr65=)
 gnomAD v4
9g.36246437G=CA1846321138CLTA,GNEc.303C= (p.Thr101=)
c.33C= (p.Thr11=)
c.210C= (p.Thr70=)
c.486-16761G= (n.486-16761G=)
c.195C= (p.Thr65=)
9g.36246437G>TCA464620164CLTA,GNEc.303C>A (p.Thr101=)
c.33C>A (p.Thr11=)
c.210C>A (p.Thr70=)
c.486-16761G>T (n.486-16761G>T)
c.195C>A (p.Thr65=)
9g.36246438G>ACA373419907CLTA,GNEc.302C>T (p.Thr101Ile)
c.32C>T (p.Thr11Ile)
c.209C>T (p.Thr70Ile)
c.486-16760G>A (n.486-16760G>A)
c.194C>T (p.Thr65Ile)
 gnomAD v4
9g.36246438G>CCA373419908CLTA,GNEc.302C>G (p.Thr101Ser)
c.32C>G (p.Thr11Ser)
c.209C>G (p.Thr70Ser)
c.486-16760G>C (n.486-16760G>C)
c.194C>G (p.Thr65Ser)
 dbSNP
9g.36246438G=CA1846321141CLTA,GNEc.302C= (p.Thr101=)
c.32C= (p.Thr11=)
c.209C= (p.Thr70=)
c.486-16760G= (n.486-16760G=)
c.194C= (p.Thr65=)
9g.36246438G>TCA373419909CLTA,GNEc.302C>A (p.Thr101Asn)
c.32C>A (p.Thr11Asn)
c.209C>A (p.Thr70Asn)
c.486-16760G>T (n.486-16760G>T)
c.194C>A (p.Thr65Asn)
9g.36246439T>ACA373419910CLTA,GNEc.301A>T (p.Thr101Ser)
c.31A>T (p.Thr11Ser)
c.208A>T (p.Thr70Ser)
c.486-16759T>A (n.486-16759T>A)
c.193A>T (p.Thr65Ser)
 gnomAD v4
9g.36246439T>CCA373419911CLTA,GNEc.301A>G (p.Thr101Ala)
c.31A>G (p.Thr11Ala)
c.208A>G (p.Thr70Ala)
c.486-16759T>C (n.486-16759T>C)
c.193A>G (p.Thr65Ala)
 ClinVar
9g.36246439T>GCA373419912CLTA,GNEc.301A>C (p.Thr101Pro)
c.31A>C (p.Thr11Pro)
c.208A>C (p.Thr70Pro)
c.486-16759T>G (n.486-16759T>G)
c.193A>C (p.Thr65Pro)
9g.36246440G>ACA5056747CLTA,GNEc.300C>T (p.Asn100=)
c.30C>T (p.Asn10=)
c.207C>T (p.Asn69=)
c.486-16758G>A (n.486-16758G>A)
c.192C>T (p.Asn64=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246440G>CCA373419913CLTA,GNEc.300C>G (p.Asn100Lys)
c.30C>G (p.Asn10Lys)
c.207C>G (p.Asn69Lys)
c.486-16758G>C (n.486-16758G>C)
c.192C>G (p.Asn64Lys)
9g.36246440G=CA1846321149CLTA,GNEc.300C= (p.Asn100=)
c.30C= (p.Asn10=)
c.207C= (p.Asn69=)
c.486-16758G= (n.486-16758G=)
c.192C= (p.Asn64=)
9g.36246440G>TCA373419914CLTA,GNEc.300C>A (p.Asn100Lys)
c.30C>A (p.Asn10Lys)
c.207C>A (p.Asn69Lys)
c.486-16758G>T (n.486-16758G>T)
c.192C>A (p.Asn64Lys)
9g.36246441T>ACA373419915CLTA,GNEc.299A>T (p.Asn100Ile)
c.29A>T (p.Asn10Ile)
c.206A>T (p.Asn69Ile)
c.486-16757T>A (n.486-16757T>A)
c.191A>T (p.Asn64Ile)
9g.36246441T>CCA373419916CLTA,GNEc.299A>G (p.Asn100Ser)
c.29A>G (p.Asn10Ser)
c.206A>G (p.Asn69Ser)
c.486-16757T>C (n.486-16757T>C)
c.191A>G (p.Asn64Ser)
9g.36246441T>GCA373419917CLTA,GNEc.299A>C (p.Asn100Thr)
c.29A>C (p.Asn10Thr)
c.206A>C (p.Asn69Thr)
c.486-16757T>G (n.486-16757T>G)
c.191A>C (p.Asn64Thr)
9g.36246442T>ACA373419919CLTA,GNEc.298A>T (p.Asn100Tyr)
c.28A>T (p.Asn10Tyr)
c.205A>T (p.Asn69Tyr)
c.486-16756T>A (n.486-16756T>A)
c.190A>T (p.Asn64Tyr)
9g.36246442T>CCA373419920CLTA,GNEc.298A>G (p.Asn100Asp)
c.28A>G (p.Asn10Asp)
c.205A>G (p.Asn69Asp)
c.486-16756T>C (n.486-16756T>C)
c.190A>G (p.Asn64Asp)
9g.36246442T>GCA373419918CLTA,GNEc.298A>C (p.Asn100His)
c.28A>C (p.Asn10His)
c.205A>C (p.Asn69His)
c.486-16756T>G (n.486-16756T>G)
c.190A>C (p.Asn64His)
9g.36246443A>CCA373419921CLTA,GNEc.297T>G (p.Ile99Met)
c.27T>G (p.Ile9Met)
c.204T>G (p.Ile68Met)
c.486-16755A>C (n.486-16755A>C)
c.189T>G (p.Ile63Met)
9g.36246443A>GCA464620167CLTA,GNEc.297T>C (p.Ile99=)
c.27T>C (p.Ile9=)
c.204T>C (p.Ile68=)
c.486-16755A>G (n.486-16755A>G)
c.189T>C (p.Ile63=)
 ClinVar
9g.36246443A>TCA464620168CLTA,GNEc.297T>A (p.Ile99=)
c.27T>A (p.Ile9=)
c.204T>A (p.Ile68=)
c.486-16755A>T (n.486-16755A>T)
c.189T>A (p.Ile63=)
9g.36246444A>CCA373419922CLTA,GNEc.296T>G (p.Ile99Ser)
c.26T>G (p.Ile9Ser)
c.203T>G (p.Ile68Ser)
c.486-16754A>C (n.486-16754A>C)
c.188T>G (p.Ile63Ser)
9g.36246444A>GCA373419923CLTA,GNEc.296T>C (p.Ile99Thr)
c.26T>C (p.Ile9Thr)
c.203T>C (p.Ile68Thr)
c.486-16754A>G (n.486-16754A>G)
c.188T>C (p.Ile63Thr)
 COSMIC COSMIC COSMIC
9g.36246444A>TCA373419924CLTA,GNEc.296T>A (p.Ile99Asn)
c.26T>A (p.Ile9Asn)
c.203T>A (p.Ile68Asn)
c.486-16754A>T (n.486-16754A>T)
c.188T>A (p.Ile63Asn)

Number of alleles fetched