Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36246347A>C | CA373419716 | CLTA,GNE | c.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) | |
9 | g.36246347A>G | CA464620001 | CLTA,GNE | c.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=) | |
9 | g.36246347A>T | CA373419717 | CLTA,GNE | c.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) | |
9 | g.36246348T>A | CA373419720 | CLTA,GNE | c.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) | |
9 | g.36246348T>C | CA373419718 | CLTA,GNE | c.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) | |
9 | g.36246348T>G | CA373419719 | CLTA,GNE | c.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) | |
9 | g.36246349T>A | CA373419721 | CLTA,GNE | c.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) | |
9 | g.36246349T>C | CA373419722 | CLTA,GNE | c.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) | |
9 | g.36246349T>G | CA373419723 | CLTA,GNE | c.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) | |
9 | g.36246350A= | CA1846321000 | CLTA,GNE | c.390T= (p.Leu130=) c.120T= (p.Leu40=) c.297T= (p.Leu99=) c.486-16848A= (n.486-16848A=) c.282T= (p.Leu94=) | |
9 | g.36246350A>C | CA10606154 | CLTA,GNE | c.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 |
9 | g.36246350A>G | CA5056740 | CLTA,GNE | c.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 |
9 | g.36246350A>T | CA464620011 | CLTA,GNE | c.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=) | |
9 | g.36246351A= | CA1846321010 | CLTA,GNE | c.389T= (p.Leu130=) c.119T= (p.Leu40=) c.296T= (p.Leu99=) c.486-16847A= (n.486-16847A=) c.281T= (p.Leu94=) | |
9 | g.36246351A>C | CA373419724 | CLTA,GNE | c.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) | |
9 | g.36246351A>G | CA373419726 | CLTA,GNE | c.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 |
9 | g.36246351A>T | CA373419725 | CLTA,GNE | c.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) | |
9 | g.36246352G>A | CA373419727 | CLTA,GNE | c.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) | |
9 | g.36246352G>C | CA373419729 | CLTA,GNE | c.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 |
9 | g.36246352G= | CA1846321016 | CLTA,GNE | c.388C= (p.Leu130=) c.118C= (p.Leu40=) c.295C= (p.Leu99=) c.486-16846G= (n.486-16846G=) c.280C= (p.Leu94=) | |
9 | g.36246352G>T | CA373419730 | CLTA,GNE | c.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) | |
9 | g.36246353G>A | CA464620018 | CLTA,GNE | c.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 |
9 | g.36246353G>C | CA464620019 | CLTA,GNE | c.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=) | |
9 | g.36246353G= | CA1846321021 | CLTA,GNE | c.387C= (p.Val129=) c.117C= (p.Val39=) c.294C= (p.Val98=) c.486-16845G= (n.486-16845G=) c.279C= (p.Val93=) | |
9 | g.36246353G>T | CA464620020 | CLTA,GNE | c.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=) | |
9 | g.36246354A>C | CA373419731 | CLTA,GNE | c.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) | |
9 | g.36246354A>G | CA373419732 | CLTA,GNE | c.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) | |
9 | g.36246354A>T | CA373419733 | CLTA,GNE | c.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) | |
9 | g.36246355C>A | CA373419734 | CLTA,GNE | c.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) | |
9 | g.36246355C>G | CA373419735 | CLTA,GNE | c.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) | |
9 | g.36246355C>T | CA373419736 | CLTA,GNE | c.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) | |
9 | g.36246356A= | CA1846321026 | CLTA,GNE | c.384T= (p.Asp128=) c.114T= (p.Asp38=) c.291T= (p.Asp97=) c.486-16842A= (n.486-16842A=) c.276T= (p.Asp92=) | |
9 | g.36246356A>C | CA373419737 | CLTA,GNE | c.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) | |
9 | g.36246356A>G | CA464620030 | CLTA,GNE | c.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 |
9 | g.36246356A>T | CA373419738 | CLTA,GNE | c.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) | |
9 | g.36246357T>A | CA373419741 | CLTA,GNE | c.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) | |
9 | g.36246357T>C | CA373419740 | CLTA,GNE | c.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) | |
9 | g.36246357T>G | CA373419739 | CLTA,GNE | c.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) | |
9 | g.36246358C>A | CA373419742 | CLTA,GNE | c.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) | |
9 | g.36246358C>G | CA373419744 | CLTA,GNE | c.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) | |
9 | g.36246358C>T | CA373419743 | CLTA,GNE | c.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 |
9 | g.36246359T>A | CA464620036 | CLTA,GNE | c.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=) | |
9 | g.36246359T>C | CA464620037 | CLTA,GNE | c.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 |
9 | g.36246359T>G | CA464620038 | CLTA,GNE | c.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=) | |
9 | g.36246359T= | CA1846321034 | CLTA,GNE | c.381A= (p.Pro127=) c.111A= (p.Pro37=) c.288A= (p.Pro96=) c.486-16839T= (n.486-16839T=) c.273A= (p.Pro91=) | |
9 | g.36246359_36246360delinsTG | CA1846321031 | CLTA,GNE | c.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=) | |
9 | g.36246360G>A | CA373419745 | CLTA,GNE | c.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) | |
9 | g.36246360G>C | CA373419747 | CLTA,GNE | c.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) | |
9 | g.36246360G>T | CA373419746 | CLTA,GNE | c.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) | |
9 | g.36246361del | CA863602855 | CLTA,GNE | c.380del (p.Pro127GlnfsTer7) c.110del (p.Pro37GlnfsTer7) c.287del (p.Pro96GlnfsTer7) c.486-16837del (n.486-16837del) c.272del (p.Pro91GlnfsTer7) | dbSNP |
9 | g.36246361G>A | CA373419748 | CLTA,GNE | c.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) | |
9 | g.36246361G>C | CA373419749 | CLTA,GNE | c.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) | |
9 | g.36246361G>T | CA373419750 | CLTA,GNE | c.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) | |
9 | g.36246362C>A | CA464620047 | CLTA,GNE | c.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=) | |
9 | g.36246362C= | CA1846321042 | CLTA,GNE | c.378G= (p.Leu126=) c.108G= (p.Leu36=) c.285G= (p.Leu95=) c.486-16836C= (n.486-16836C=) c.270G= (p.Leu90=) | |
9 | g.36246362C>G | CA464620049 | CLTA,GNE | c.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=) | |
9 | g.36246362C>T | CA464620050 | CLTA,GNE | c.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 |
9 | g.36246363A>C | CA373419751 | CLTA,GNE | c.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) | |
9 | g.36246363A>G | CA373419752 | CLTA,GNE | c.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 |
9 | g.36246363A>T | CA373419753 | CLTA,GNE | c.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) | |
9 | g.36246364G>A | CA464620055 | CLTA,GNE | c.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=) | |
9 | g.36246364G>C | CA373419754 | CLTA,GNE | c.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) | |
9 | g.36246364G= | CA1846321044 | CLTA,GNE | c.376C= (p.Leu126=) c.106C= (p.Leu36=) c.283C= (p.Leu95=) c.486-16834G= (n.486-16834G=) c.268C= (p.Leu90=) | |
9 | g.36246364G>T | CA5056741 | CLTA,GNE | c.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 |
9 | g.36246365C>A | CA373419755 | CLTA,GNE | c.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) | |
9 | g.36246365C>G | CA373419756 | CLTA,GNE | c.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) | |
9 | g.36246365C>T | CA464620058 | CLTA,GNE | c.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=) | |
9 | g.36246366T>A | CA373419759 | CLTA,GNE | c.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) | |
9 | g.36246366T>C | CA373419757 | CLTA,GNE | c.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) | |
9 | g.36246366T>G | CA373419758 | CLTA,GNE | c.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) | |
9 | g.36246367T>A | CA373419760 | CLTA,GNE | c.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) | |
9 | g.36246367T>C | CA373419761 | CLTA,GNE | c.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) | |
9 | g.36246367T>G | CA373419762 | CLTA,GNE | c.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) | |
9 | g.36246368C>A | CA464620063 | CLTA,GNE | c.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=) | |
9 | g.36246368C>G | CA464620064 | CLTA,GNE | c.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=) | |
9 | g.36246368C>T | CA464620066 | CLTA,GNE | c.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=) | |
9 | g.36246369A>C | CA373419763 | CLTA,GNE | c.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) | |
9 | g.36246369A>G | CA373419764 | CLTA,GNE | c.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) | |
9 | g.36246369A>T | CA373419765 | CLTA,GNE | c.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) | |
9 | g.36246370C>A | CA373419766 | CLTA,GNE | c.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) | |
9 | g.36246370C>G | CA373419767 | CLTA,GNE | c.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) | |
9 | g.36246370C>T | CA373419768 | CLTA,GNE | c.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 |
9 | g.36246371T>A | CA464620068 | CLTA,GNE | c.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 |
9 | g.36246371T>C | CA464620071 | CLTA,GNE | c.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 |
9 | g.36246371T>G | CA5056742 | CLTA,GNE | c.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 |
9 | g.36246371T= | CA1846321047 | CLTA,GNE | c.369A= (p.Leu123=) c.99A= (p.Leu33=) c.276A= (p.Leu92=) c.486-16827T= (n.486-16827T=) c.261A= (p.Leu87=) | |
9 | g.36246372A>C | CA373419770 | CLTA,GNE | c.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) | |
9 | g.36246372A>G | CA373419771 | CLTA,GNE | c.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 |
9 | g.36246372A>T | CA373419769 | CLTA,GNE | c.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) | |
9 | g.36246373G>A | CA464620075 | CLTA,GNE | c.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=) | |
9 | g.36246373G>C | CA373419772 | CLTA,GNE | c.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) | |
9 | g.36246373G>T | CA373419773 | CLTA,GNE | c.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 |
9 | g.36246374G>A | CA464620076 | CLTA,GNE | c.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 |
9 | g.36246374G>C | CA464620077 | CLTA,GNE | c.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=) | |
9 | g.36246374G>T | CA464620078 | CLTA,GNE | c.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=) | |
9 | g.36246375G>A | CA373419774 | CLTA,GNE | c.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) | |
9 | g.36246375G>C | CA373419775 | CLTA,GNE | c.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) | |
9 | g.36246375G>T | CA373419776 | CLTA,GNE | c.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 |
9 | g.36246376C>A | CA373419779 | CLTA,GNE | c.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) | |
9 | g.36246376C>G | CA373419777 | CLTA,GNE | c.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) | |
9 | g.36246376C>T | CA373419778 | CLTA,GNE | c.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) | |
9 | g.36246377C>A | CA464620084 | CLTA,GNE | c.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=) | |
9 | g.36246377C>G | CA464620083 | CLTA,GNE | c.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=) | |
9 | g.36246377C>T | CA464620082 | CLTA,GNE | c.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=) | |
9 | g.36246378A= | CA1846321051 | CLTA,GNE | c.362T= (p.Leu121=) c.92T= (p.Leu31=) c.269T= (p.Leu90=) c.486-16820A= (n.486-16820A=) c.254T= (p.Leu85=) | |
9 | g.36246378A>C | CA373419780 | CLTA,GNE | c.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) | |
9 | g.36246378A>G | CA373419781 | CLTA,GNE | c.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 |
9 | g.36246378A>T | CA373419782 | CLTA,GNE | c.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) | |
9 | g.36246379G>A | CA464620086 | CLTA,GNE | c.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=) | |
9 | g.36246379G>C | CA373419783 | CLTA,GNE | c.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) | |
9 | g.36246379G>T | CA373419784 | CLTA,GNE | c.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) | |
9 | g.36246380G>A | CA464620087 | CLTA,GNE | c.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 |
9 | g.36246380G>C | CA464620088 | CLTA,GNE | c.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 |
9 | g.36246380G>T | CA464620089 | CLTA,GNE | c.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=) | |
9 | g.36246381C>A | CA373419785 | CLTA,GNE | c.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 |
9 | g.36246381C>G | CA373419787 | CLTA,GNE | c.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) | |
9 | g.36246381C>T | CA373419786 | CLTA,GNE | c.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) | |
9 | g.36246382C>A | CA373419788 | CLTA,GNE | c.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) | |
9 | g.36246382C= | CA1846321055 | CLTA,GNE | c.358G= (p.Gly120=) c.88G= (p.Gly30=) c.265G= (p.Gly89=) c.486-16816C= (n.486-16816C=) c.250G= (p.Gly84=) | |
9 | g.36246382C>G | CA373419789 | CLTA,GNE | c.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) | |
9 | g.36246382C>T | CA373419790 | CLTA,GNE | c.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 |
9 | g.36246383T>A | CA464620093 | CLTA,GNE | c.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=) | |
9 | g.36246383T>C | CA464620094 | CLTA,GNE | c.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=) | |
9 | g.36246383T>G | CA464620095 | CLTA,GNE | c.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=) | |
9 | g.36246384A>C | CA373419791 | CLTA,GNE | c.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) | |
9 | g.36246384A>G | CA373419792 | CLTA,GNE | c.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) | |
9 | g.36246384A>T | CA373419793 | CLTA,GNE | c.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) | |
9 | g.36246385C>A | CA373419794 | CLTA,GNE | c.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) | |
9 | g.36246385C>G | CA373419795 | CLTA,GNE | c.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) | |
9 | g.36246385C>T | CA373419796 | CLTA,GNE | c.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 |
9 | g.36246386T>A | CA464620096 | CLTA,GNE | c.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=) | |
9 | g.36246386T>C | CA464620097 | CLTA,GNE | c.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=) | |
9 | g.36246386T>G | CA464620098 | CLTA,GNE | c.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=) | |
9 | g.36246387G>A | CA373419797 | CLTA,GNE | c.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) | |
9 | g.36246387G>C | CA373419798 | CLTA,GNE | c.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 |
9 | g.36246387G>T | CA373419799 | CLTA,GNE | c.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) | |
9 | g.36246388A>C | CA373419801 | CLTA,GNE | c.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) | |
9 | g.36246388A>G | CA373419802 | CLTA,GNE | c.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) | |
9 | g.36246388A>T | CA373419800 | CLTA,GNE | c.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) | |
9 | g.36246389C>A | CA373419804 | CLTA,GNE | c.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) | |
9 | g.36246389C>G | CA373419803 | CLTA,GNE | c.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 |
9 | g.36246389C>T | CA464620104 | CLTA,GNE | c.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=) | |
9 | g.36246390T>A | CA373419805 | CLTA,GNE | c.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) | |
9 | g.36246390T>C | CA373419806 | CLTA,GNE | c.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) | |
9 | g.36246390T>G | CA373419807 | CLTA,GNE | c.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 |
9 | g.36246391C>A | CA373419808 | CLTA,GNE | c.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) | |
9 | g.36246391C>G | CA373419809 | CLTA,GNE | c.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) | |
9 | g.36246391C>T | CA373419810 | CLTA,GNE | c.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) | |
9 | g.36246392C>A | CA464620106 | CLTA,GNE | c.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=) | |
9 | g.36246392C>G | CA464620107 | CLTA,GNE | c.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=) | |
9 | g.36246392C>T | CA464620108 | CLTA,GNE | c.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 |
9 | g.36246393A= | CA1846321064 | CLTA,GNE | c.347T= (p.Val116=) c.77T= (p.Val26=) c.254T= (p.Val85=) c.486-16805A= (n.486-16805A=) c.239T= (p.Val80=) | |
9 | g.36246393A>C | CA373419811 | CLTA,GNE | c.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 |
9 | g.36246393A>G | CA373419812 | CLTA,GNE | c.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) | |
9 | g.36246393A>T | CA373419813 | CLTA,GNE | c.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) | |
9 | g.36246394C>A | CA373419814 | CLTA,GNE | c.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) | |
9 | g.36246394C= | CA1846321069 | CLTA,GNE | c.346G= (p.Val116=) c.76G= (p.Val26=) c.253G= (p.Val85=) c.486-16804C= (n.486-16804C=) c.238G= (p.Val80=) | |
9 | g.36246394C>G | CA373419815 | CLTA,GNE | c.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) | |
9 | g.36246394C>T | CA373419816 | CLTA,GNE | c.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 |
9 | g.36246395C>A | CA373419819 | CLTA,GNE | c.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) | |
9 | g.36246395C>G | CA373419817 | CLTA,GNE | c.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) | |
9 | g.36246395C>T | CA373419818 | CLTA,GNE | c.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) | |
9 | g.36246396A>C | CA373419820 | CLTA,GNE | c.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) | |
9 | g.36246396A>G | CA373419821 | CLTA,GNE | c.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) | |
9 | g.36246396A>T | CA373419822 | CLTA,GNE | c.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) | |
9 | g.36246397T>A | CA373419823 | CLTA,GNE | c.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) | |
9 | g.36246397T>C | CA373419824 | CLTA,GNE | c.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 |
9 | g.36246397T>G | CA373419825 | CLTA,GNE | c.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) | |
9 | g.36246398G>A | CA464620115 | CLTA,GNE | c.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 |
9 | g.36246398G>C | CA464620117 | CLTA,GNE | c.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=) | |
9 | g.36246398G>T | CA464620116 | CLTA,GNE | c.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 |
9 | g.36246399G>A | CA373419826 | CLTA,GNE | c.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) | |
9 | g.36246399G>C | CA373419827 | CLTA,GNE | c.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) | |
9 | g.36246399G>T | CA373419828 | CLTA,GNE | c.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) | |
9 | g.36246400C>A | CA373419829 | CLTA,GNE | c.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) | |
9 | g.36246400C= | CA1846321072 | CLTA,GNE | c.340G= (p.Ala114=) c.70G= (p.Ala24=) c.247G= (p.Ala83=) c.486-16798C= (n.486-16798C=) c.232G= (p.Ala78=) | |
9 | g.36246400C>G | CA373419830 | CLTA,GNE | c.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) | |
9 | g.36246400C>T | CA373419831 | CLTA,GNE | c.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 |
9 | g.36246401T>A | CA464620121 | CLTA,GNE | c.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=) | |
9 | g.36246401T>C | CA464620123 | CLTA,GNE | c.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 |
9 | g.36246401T>G | CA464620124 | CLTA,GNE | c.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 |
9 | g.36246401dup | CA2689947828 | CLTA,GNE | c.339dup (p.Ala114SerfsTer18) c.69dup (p.Ala24SerfsTer18) c.246dup (p.Ala83SerfsTer18) c.486-16797dup (n.486-16797dup) c.231dup (p.Ala78SerfsTer18) | gnomAD v4 |
9 | g.36246402G>A | CA373419834 | CLTA,GNE | c.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) | |
9 | g.36246402G>C | CA373419833 | CLTA,GNE | c.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) | |
9 | g.36246402G>T | CA373419832 | CLTA,GNE | c.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) | |
9 | g.36246403C>A | CA373419835 | CLTA,GNE | c.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) | |
9 | g.36246403C>G | CA373419836 | CLTA,GNE | c.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) | |
9 | g.36246403C>T | CA373419837 | CLTA,GNE | c.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) | |
9 | g.36246404C>A | CA373419838 | CLTA,GNE | c.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) | |
9 | g.36246404C>G | CA373419839 | CLTA,GNE | c.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 |
9 | g.36246404C>T | CA464620126 | CLTA,GNE | c.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 |
9 | g.36246405T>A | CA373419841 | CLTA,GNE | c.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) | |
9 | g.36246405T>C | CA373419840 | CLTA,GNE | c.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 |
9 | g.36246405T>G | CA5056743 | CLTA,GNE | c.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 |
9 | g.36246405T= | CA1846321076 | CLTA,GNE | c.335A= (p.Glu112=) c.65A= (p.Glu22=) c.242A= (p.Glu81=) c.486-16793T= (n.486-16793T=) c.227A= (p.Glu76=) | |
9 | g.36246406C>A | CA373419842 | CLTA,GNE | c.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 |
9 | g.36246406C= | CA1846321080 | CLTA,GNE | c.334G= (p.Glu112=) c.64G= (p.Glu22=) c.241G= (p.Glu81=) c.486-16792C= (n.486-16792C=) c.226G= (p.Glu76=) | |
9 | g.36246406C>G | CA373419843 | CLTA,GNE | c.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) | |
9 | g.36246406C>T | CA373419844 | CLTA,GNE | c.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 |
9 | g.36246407A= | CA1846321084 | CLTA,GNE | c.333T= (p.Asp111=) c.63T= (p.Asp21=) c.240T= (p.Asp80=) c.486-16791A= (n.486-16791A=) c.225T= (p.Asp75=) | |
9 | g.36246407A>C | CA373419845 | CLTA,GNE | c.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) | |
9 | g.36246407A>G | CA5056744 | CLTA,GNE | c.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 |
9 | g.36246407A>T | CA373419846 | CLTA,GNE | c.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) | |
9 | g.36246408T>A | CA373419847 | CLTA,GNE | c.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) | |
9 | g.36246408T>C | CA373419849 | CLTA,GNE | c.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 |
9 | g.36246408T>G | CA373419848 | CLTA,GNE | c.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) | |
9 | g.36246411_36246413del | CA2580616200 | CLTA,GNE | c.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 |
9 | g.36246409C>A | CA373419850 | CLTA,GNE | c.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 |
9 | g.36246409C= | CA1846321087 | CLTA,GNE | c.331G= (p.Asp111=) c.61G= (p.Asp21=) c.238G= (p.Asp80=) c.486-16789C= (n.486-16789C=) c.223G= (p.Asp75=) | |
9 | g.36246409C>G | CA373419851 | CLTA,GNE | c.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) | |
9 | g.36246409C>T | CA373419852 | CLTA,GNE | c.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) | |
9 | g.36246410T>A | CA373419853 | CLTA,GNE | c.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) | |
9 | g.36246410T>C | CA464620133 | CLTA,GNE | c.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=) | |
9 | g.36246410T>G | CA373419854 | CLTA,GNE | c.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) | |
9 | g.36246411T>A | CA373419855 | CLTA,GNE | c.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) | |
9 | g.36246411T>C | CA373419856 | CLTA,GNE | c.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) | |
9 | g.36246411T>G | CA373419857 | CLTA,GNE | c.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) | |
9 | g.36246413_36246414del | CA1123252992 | CLTA,GNE | c.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 |
9 | g.36246412C>A | CA373419858 | CLTA,GNE | c.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) | |
9 | g.36246412C>G | CA373419859 | CLTA,GNE | c.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) | |
9 | g.36246412C>T | CA373419860 | CLTA,GNE | c.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) | |
9 | g.36246413T>A | CA464620136 | CLTA,GNE | c.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=) | |
9 | g.36246413T>C | CA464620137 | CLTA,GNE | c.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=) | |
9 | g.36246413T>G | CA464620138 | CLTA,GNE | c.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=) | |
9 | g.36246414C>A | CA373419862 | CLTA,GNE | c.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) | |
9 | g.36246414C= | CA1846321096 | CLTA,GNE | c.326G= (p.Gly109=) c.56G= (p.Gly19=) c.233G= (p.Gly78=) c.486-16784C= (n.486-16784C=) c.218G= (p.Gly73=) | |
9 | g.36246414C>G | CA373419861 | CLTA,GNE | c.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) | |
9 | g.36246414C>T | CA10605580 | CLTA,GNE | c.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 |
9 | g.36246415C>A | CA373419863 | CLTA,GNE | c.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) | |
9 | g.36246415C>G | CA373419865 | CLTA,GNE | c.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) | |
9 | g.36246415C>T | CA373419864 | CLTA,GNE | c.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) | |
9 | g.36246416C>A | CA192828409 | CLTA,GNE | c.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 |
9 | g.36246416C= | CA1846321099 | CLTA,GNE | c.324G= (p.Arg108=) c.54G= (p.Arg18=) c.231G= (p.Arg77=) c.486-16782C= (n.486-16782C=) c.216G= (p.Arg72=) | |
9 | g.36246416C>G | CA373419866 | CLTA,GNE | c.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) | |
9 | g.36246416C>T | CA464620142 | CLTA,GNE | c.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=) | |
9 | g.36246417C>A | CA373419867 | CLTA,GNE | c.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) | |
9 | g.36246417C>G | CA373419869 | CLTA,GNE | c.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) | |
9 | g.36246417C>T | CA373419868 | CLTA,GNE | c.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) | |
9 | g.36246418T>A | CA373419870 | CLTA,GNE | c.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) | |
9 | g.36246418T>C | CA373419871 | CLTA,GNE | c.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) | |
9 | g.36246418T>G | CA464620144 | CLTA,GNE | c.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=) | |
9 | g.36246419C>A | CA464620147 | CLTA,GNE | c.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=) | |
9 | g.36246419C>G | CA464620146 | CLTA,GNE | c.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 |
9 | g.36246419C>T | CA464620145 | CLTA,GNE | c.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=) | |
9 | g.36246419_36246422delinsCACA | CA1846321102 | CLTA,GNE | c.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=) | |
9 | g.36246419_36246420insTG | CA1123252996 | CLTA,GNE | c.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 |
9 | g.36246420A>C | CA373419872 | CLTA,GNE | c.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) | |
9 | g.36246420A>G | CA373419873 | CLTA,GNE | c.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) | |
9 | g.36246420A>T | CA373419874 | CLTA,GNE | c.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) | |
9 | g.36246421_36246423del | CA588147230 | CLTA,GNE | c.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 |
9 | g.36246421C>A | CA373419875 | CLTA,GNE | c.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) | |
9 | g.36246421C>G | CA373419876 | CLTA,GNE | c.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) | |
9 | g.36246421C>T | CA373419877 | CLTA,GNE | c.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) | |
9 | g.36246422A>C | CA373419878 | CLTA,GNE | c.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) | |
9 | g.36246422A>G | CA464620149 | CLTA,GNE | c.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=) | |
9 | g.36246422A>T | CA464620148 | CLTA,GNE | c.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=) | |
9 | g.36246423A>C | CA373419881 | CLTA,GNE | c.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) | |
9 | g.36246423A>G | CA373419880 | CLTA,GNE | c.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) | |
9 | g.36246423A>T | CA373419879 | CLTA,GNE | c.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) | |
9 | g.36246424T>A | CA373419882 | CLTA,GNE | c.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) | |
9 | g.36246424T>C | CA373419883 | CLTA,GNE | c.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) | |
9 | g.36246424T>G | CA373419884 | CLTA,GNE | c.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) | |
9 | g.36246425T>A | CA464620152 | CLTA,GNE | c.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=) | |
9 | g.36246425T>C | CA464620154 | CLTA,GNE | c.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 |
9 | g.36246425T>G | CA464620153 | CLTA,GNE | c.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=) | |
9 | g.36246425T= | CA1846321107 | CLTA,GNE | c.315A= (p.Thr105=) c.45A= (p.Thr15=) c.222A= (p.Thr74=) c.486-16773T= (n.486-16773T=) c.207A= (p.Thr69=) | |
9 | g.36246430_36246431del | CA2580616201 | CLTA,GNE | c.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 |
9 | g.36246426G>A | CA373419885 | CLTA,GNE | c.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 |
9 | g.36246426G>C | CA373419886 | CLTA,GNE | c.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) | |
9 | g.36246426G>T | CA373419887 | CLTA,GNE | c.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) | |
9 | g.36246427T>A | CA373419888 | CLTA,GNE | c.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) | |
9 | g.36246427T>C | CA373419889 | CLTA,GNE | c.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) | |
9 | g.36246427T>G | CA192828413 | CLTA,GNE | c.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 |
9 | g.36246427T= | CA1846321114 | CLTA,GNE | c.313A= (p.Thr105=) c.43A= (p.Thr15=) c.220A= (p.Thr74=) c.486-16771T= (n.486-16771T=) c.205A= (p.Thr69=) | |
9 | g.36246428G>A | CA464620155 | CLTA,GNE | c.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=) | |
9 | g.36246428G>C | CA373419890 | CLTA,GNE | c.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) | |
9 | g.36246428G>T | CA373419891 | CLTA,GNE | c.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) | |
9 | g.36246429T>A | CA373419893 | CLTA,GNE | c.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) | |
9 | g.36246429T>C | CA373419894 | CLTA,GNE | c.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 |
9 | g.36246429T>G | CA373419892 | CLTA,GNE | c.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) | |
9 | g.36246429T= | CA1846321119 | CLTA,GNE | c.311A= (p.His104=) c.41A= (p.His14=) c.218A= (p.His73=) c.486-16769T= (n.486-16769T=) c.203A= (p.His68=) | |
9 | g.36246430G>A | CA373419895 | CLTA,GNE | c.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 |
9 | g.36246430G>C | CA373419896 | CLTA,GNE | c.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) | |
9 | g.36246430G>T | CA373419897 | CLTA,GNE | c.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) | |
9 | g.36246431T>A | CA464620156 | CLTA,GNE | c.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=) | |
9 | g.36246431T>C | CA464620157 | CLTA,GNE | c.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=) | |
9 | g.36246431T>G | CA464620158 | CLTA,GNE | c.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=) | |
9 | g.36246432A>C | CA373419898 | CLTA,GNE | c.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) | |
9 | g.36246432A>G | CA373419899 | CLTA,GNE | c.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) | |
9 | g.36246432A>T | CA373419900 | CLTA,GNE | c.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) | |
9 | g.36246433G>A | CA464620159 | CLTA,GNE | c.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=) | |
9 | g.36246433G>C | CA373419901 | CLTA,GNE | c.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) | |
9 | g.36246433G>T | CA373419902 | CLTA,GNE | c.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 |
9 | g.36246434C>A | CA192828424 | CLTA,GNE | c.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 |
9 | g.36246434C= | CA1846321120 | CLTA,GNE | c.306G= (p.Arg102=) c.36G= (p.Arg12=) c.213G= (p.Arg71=) c.486-16764C= (n.486-16764C=) c.198G= (p.Arg66=) | |
9 | g.36246434C>G | CA373419903 | CLTA,GNE | c.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) | |
9 | g.36246434C>T | CA464620160 | CLTA,GNE | c.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 |
9 | g.36246435C>A | CA373419904 | CLTA,GNE | c.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) | |
9 | g.36246435C= | CA1846321124 | CLTA,GNE | c.305G= (p.Arg102=) c.35G= (p.Arg12=) c.212G= (p.Arg71=) c.486-16763C= (n.486-16763C=) c.197G= (p.Arg66=) | |
9 | g.36246435C>G | CA373419905 | CLTA,GNE | c.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) | |
9 | g.36246435C>T | CA5056745 | CLTA,GNE | c.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 |
9 | g.36246436T>A | CA10606885 | CLTA,GNE | c.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 |
9 | g.36246436T>C | CA373419906 | CLTA,GNE | c.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) | |
9 | g.36246436T>G | CA464620162 | CLTA,GNE | c.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=) | |
9 | g.36246436T= | CA1846321130 | CLTA,GNE | c.304A= (p.Arg102=) c.34A= (p.Arg12=) c.211A= (p.Arg71=) c.486-16762T= (n.486-16762T=) c.196A= (p.Arg66=) | |
9 | g.36246437G>A | CA5056746 | CLTA,GNE | c.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 |
9 | g.36246437G>C | CA464620163 | CLTA,GNE | c.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 |
9 | g.36246437G= | CA1846321138 | CLTA,GNE | c.303C= (p.Thr101=) c.33C= (p.Thr11=) c.210C= (p.Thr70=) c.486-16761G= (n.486-16761G=) c.195C= (p.Thr65=) | |
9 | g.36246437G>T | CA464620164 | CLTA,GNE | c.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=) | |
9 | g.36246438G>A | CA373419907 | CLTA,GNE | c.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 |
9 | g.36246438G>C | CA373419908 | CLTA,GNE | c.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 |
9 | g.36246438G= | CA1846321141 | CLTA,GNE | c.302C= (p.Thr101=) c.32C= (p.Thr11=) c.209C= (p.Thr70=) c.486-16760G= (n.486-16760G=) c.194C= (p.Thr65=) | |
9 | g.36246438G>T | CA373419909 | CLTA,GNE | c.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) | |
9 | g.36246439T>A | CA373419910 | CLTA,GNE | c.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 |
9 | g.36246439T>C | CA373419911 | CLTA,GNE | c.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 |
9 | g.36246439T>G | CA373419912 | CLTA,GNE | c.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) | |
9 | g.36246440G>A | CA5056747 | CLTA,GNE | c.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 |
9 | g.36246440G>C | CA373419913 | CLTA,GNE | c.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) | |
9 | g.36246440G= | CA1846321149 | CLTA,GNE | c.300C= (p.Asn100=) c.30C= (p.Asn10=) c.207C= (p.Asn69=) c.486-16758G= (n.486-16758G=) c.192C= (p.Asn64=) | |
9 | g.36246440G>T | CA373419914 | CLTA,GNE | c.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) | |
9 | g.36246441T>A | CA373419915 | CLTA,GNE | c.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) | |
9 | g.36246441T>C | CA373419916 | CLTA,GNE | c.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) | |
9 | g.36246441T>G | CA373419917 | CLTA,GNE | c.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) | |
9 | g.36246442T>A | CA373419919 | CLTA,GNE | c.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) | |
9 | g.36246442T>C | CA373419920 | CLTA,GNE | c.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) | |
9 | g.36246442T>G | CA373419918 | CLTA,GNE | c.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) | |
9 | g.36246443A>C | CA373419921 | CLTA,GNE | c.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) | |
9 | g.36246443A>G | CA464620167 | CLTA,GNE | c.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 |
9 | g.36246443A>T | CA464620168 | CLTA,GNE | c.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=) | |
9 | g.36246444A>C | CA373419922 | CLTA,GNE | c.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) | |
9 | g.36246444A>G | CA373419923 | CLTA,GNE | c.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 |
9 | g.36246444A>T | CA373419924 | CLTA,GNE | c.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) | |
9 | g.36246445T>A | CA373419925 | CLTA,GNE | c.295A>T (p.Ile99Phe) c.25A>T (p.Ile9Phe) c.202A>T (p.Ile68Phe) c.486-16753T>A (n.486-16753T>A) c.187A>T (p.Ile63Phe) | |
9 | g.36246445T>C | CA373419926 | CLTA,GNE | c.295A>G (p.Ile99Val) c.25A>G (p.Ile9Val) c.202A>G (p.Ile68Val) c.486-16753T>C (n.486-16753T>C) c.187A>G (p.Ile63Val) | |
9 | g.36246445T>G | CA373419927 | CLTA,GNE | c.295A>C (p.Ile99Leu) c.25A>C (p.Ile9Leu) c.202A>C (p.Ile68Leu) c.486-16753T>G (n.486-16753T>G) c.187A>C (p.Ile63Leu) | |
9 | g.36246446G>A | CA464620171 | CLTA,GNE | c.294C>T (p.Asp98=) c.24C>T (p.Asp8=) c.201C>T (p.Asp67=) c.486-16752G>A (n.486-16752G>A) c.186C>T (p.Asp62=) | |
9 | g.36246446G>C | CA373419928 | CLTA,GNE | c.294C>G (p.Asp98Glu) c.24C>G (p.Asp8Glu) c.201C>G (p.Asp67Glu) c.486-16752G>C (n.486-16752G>C) c.186C>G (p.Asp62Glu) | |
9 | g.36246446G>T | CA373419929 | CLTA,GNE | c.294C>A (p.Asp98Glu) c.24C>A (p.Asp8Glu) c.201C>A (p.Asp67Glu) c.486-16752G>T (n.486-16752G>T) c.186C>A (p.Asp62Glu) | |
9 | g.36246447T>A | CA373419930 | CLTA,GNE | c.293A>T (p.Asp98Val) c.23A>T (p.Asp8Val) c.200A>T (p.Asp67Val) c.486-16751T>A (n.486-16751T>A) c.185A>T (p.Asp62Val) | |
9 | g.36246447T>C | CA373419931 | CLTA,GNE | c.293A>G (p.Asp98Gly) c.23A>G (p.Asp8Gly) c.200A>G (p.Asp67Gly) c.486-16751T>C (n.486-16751T>C) c.185A>G (p.Asp62Gly) | |
9 | g.36246447T>G | CA373419932 | CLTA,GNE | c.293A>C (p.Asp98Ala) c.23A>C (p.Asp8Ala) c.200A>C (p.Asp67Ala) c.486-16751T>G (n.486-16751T>G) c.185A>C (p.Asp62Ala) |